Gene name Mutation A1BG A137T A1BG A191T A1BG D187Y A1BG E339D A1BG P487H A1BG R245C A1BG R345H A1CF A383V A1CF E326G A1CF E34K A1CF E508K A1CF N287S A1CF R401Q A1CF R579Q A1CF_ENST00000373995 A391V A1CF_ENST00000373995 E334G A1CF_ENST00000373995 E42K A1CF_ENST00000373995 E516K A1CF_ENST00000373995 N295S A1CF_ENST00000373995 R409Q A2M A1151P A2M A88S A2M A90T A2M F1290L A2M G852R A2M H358Q A2M K664N A2M R1297H A2M R174H A2M R598C A2M R732Q A2M R945Q A2M S1026N A2M T1209A A2ML1 D287N A2ML1 D758Y A2ML1 F355V A2ML1 L1202F A2ML1 N1402D A2ML1 N349I A2ML1 R1345Q A2ML1 S840Y A2ML1 T523A A2ML1 V924E A2ML1 W737L A4GALT A335D A4GALT F186C A4GALT P305L A4GALT R147W AAAS L18I AACS G592R AADAC L173F AADAC L344I AADACL2 H89R AADACL2 L280I AADACL2_ENST00000356517 F15C AADACL2_ENST00000356517 H111R AADACL2_ENST00000356517 L302I AADACL3 D102Y AADACL3 R25H AADACL3 R268S AADACL3_ENST00000359318 D172Y AADACL3_ENST00000359318 R338S AADACL3_ENST00000359318 R95H AADACL3_ENST00000359318 V67I AADACL4 A266T AADACL4 V79M AADAT F48C AADAT K278N AADAT M302V AAK1 A592V AAK1 L656F AAK1 L665I AAK1 R141H AAK1_ENST00000409085 A592V AAK1_ENST00000409085 L656F AAK1_ENST00000409085 L665I AAK1_ENST00000409085 R141H AAMP C282S AAMP D281A AAMP S20R AARS A663S AARS I374N AARS R198W AARS2 A933S AARS2 E405K AARS2 R480W AARS2 T530A AARSD1 N272K AASDH A747V AASDH D554E AASDH S641G AASDH S641I AASS G158R AASS G361R AASS L133R AASS M689I AASS P749H AASS R267C AASS V28I AATF G148D AATF R516W AATK D464N AATK H747R AATK Q362P AATK R485H AATK R793S AATK T784M AATK Y372F AATK_ENST00000326724 D464N AATK_ENST00000326724 H747R AATK_ENST00000326724 Q362P AATK_ENST00000326724 R485H AATK_ENST00000326724 T784M AATK_ENST00000326724 Y372F ABAT A171T ABAT A226V ABAT R92Q ABAT S240F ABCA1 A1010V ABCA1 A1407T ABCA1 E210G ABCA1 L932M ABCA1 R1068H ABCA1 R1839H ABCA1 R2030Q ABCA1 R230H ABCA1 S689I ABCA1 S824L ABCA1 Y1126C ABCA10 E1168K ABCA10 T583I ABCA12 A2403S ABCA12 A2566V ABCA12 A833V ABCA12 D1986N ABCA12 E1677G ABCA12 E938G ABCA12 F1623L ABCA12 G88S ABCA12 I1732T ABCA12 I734S ABCA12 K508N ABCA12 L2455P ABCA12 P376T ABCA12 R1297Q ABCA12 R248I ABCA12 R404Q ABCA12 R411H ABCA12 S119N ABCA12 T1980I ABCA12 T335R ABCA12 V1303G ABCA12 V1751A ABCA13 A1207S ABCA13 A3359T ABCA13 A4068T ABCA13 D4078A ABCA13 E62D ABCA13 F2829L ABCA13 H4962R ABCA13 K1159T ABCA13 K1616N ABCA13 K3416N ABCA13 K4651N ABCA13 L2521F ABCA13 P334H ABCA13 Q1863H ABCA13 R3107Q ABCA13 R3434W ABCA13 R3442Q ABCA13 R3988H ABCA13 R4162C ABCA13 V1055I ABCA13 V3607I ABCA13 V4973A ABCA13_ENST00000435803 A3414T ABCA13_ENST00000435803 A4123T ABCA13_ENST00000435803 D4133A ABCA13_ENST00000435803 E117D ABCA13_ENST00000435803 F2884L ABCA13_ENST00000435803 H5017R ABCA13_ENST00000435803 K1214T ABCA13_ENST00000435803 K1671N ABCA13_ENST00000435803 K3471N ABCA13_ENST00000435803 K4706N ABCA13_ENST00000435803 L2576F ABCA13_ENST00000435803 P389H ABCA13_ENST00000435803 Q1918H ABCA13_ENST00000435803 R3162Q ABCA13_ENST00000435803 R3489W ABCA13_ENST00000435803 R3497Q ABCA13_ENST00000435803 R4043H ABCA13_ENST00000435803 R4217C ABCA13_ENST00000435803 V1110I ABCA13_ENST00000435803 V3662I ABCA13_ENST00000435803 V5028A ABCA2 P1865L ABCA2 R2073S ABCA2 T1626M ABCA3 G1452R ABCA3 G883C ABCA3 P612L ABCA3 R1035H ABCA3 R108C ABCA3 R1232C ABCA3 R1351Q ABCA4 A781D ABCA4 E684D ABCA4 G1803S ABCA4 L33S ABCA4 P1342L ABCA4 P87L ABCA4 R1055Q ABCA4 R1307S ABCA4 R511H ABCA4 S2213F ABCA4 V1828M ABCA5 D379Y ABCA5 K1431N ABCA5 L916P ABCA5 T1461I ABCA6 A398S ABCA6 E799K ABCA6 G499D ABCA6 K485E ABCA6 R1225I ABCA6 R1419I ABCA6 V560I ABCA7 A589V ABCA7 K1732N ABCA7 L1696V ABCA7 P723S ABCA7 R1754L ABCA7 R1754Q ABCA7 R1976H ABCA7 R2002W ABCA7 R770Q ABCA7 V1536I ABCA7 V541M ABCA7 Y750C ABCA8 A1132T ABCA8 A1329T ABCA8 A656T ABCA8 E1118K ABCA8 K620T ABCA8 P1208S ABCA8 R1088C ABCA8 R1088H ABCA8 R802Q ABCA8 R812C ABCA8 S348T ABCA8 V1034D ABCA8 V334M ABCA9 A1567T ABCA9 F563L ABCA9 L31S ABCA9 L416F ABCA9 R655Q ABCB1 F335L ABCB1 F759L ABCB1 I1266V ABCB1 K1076E ABCB1 K1076N ABCB1 R262I ABCB1 R286I ABCB1 R41H ABCB1 R467W ABCB10 G480V ABCB10 R267H ABCB10 R471I ABCB11 A1283V ABCB11 F1200C ABCB11 G344S ABCB11 R1050H ABCB11 R616C ABCB4 A578V ABCB4 G687E ABCB4 G90E ABCB4 K191N ABCB4 L1205P ABCB4 L158V ABCB4 M918L ABCB4 R545H ABCB4 V713M ABCB5 A432T ABCB5 A58V ABCB5 H285R ABCB5 Q359H ABCB5 R440H ABCB5 R582C ABCB5 T526M ABCB5 V27A ABCB5 V765I ABCB5_ENST00000404938 H730R ABCB5_ENST00000404938 R1027C ABCB5_ENST00000404938 R140Q ABCB5_ENST00000404938 T971M ABCB5_ENST00000404938 V1210I ABCB5_ENST00000404938 V472A ABCB5_ENST00000443026 V27A ABCB6 K569T ABCB6 M442I ABCB6 R638C ABCB6 R69S ABCB8 R328H ABCB8 R38C ABCB8 R522C ABCB8 R530W ABCB8 V167I ABCB9 A593T ABCB9 L30M ABCB9 V230A ABCB9 Y412C ABCC1 D787G ABCC1 G1509D ABCC1 R1148C ABCC1 R501Q ABCC10 L144P ABCC10 R957L ABCC10 T253I ABCC10 T496M ABCC11 A556V ABCC11 A597T ABCC11 A647T ABCC11 K678N ABCC11 L163F ABCC11 R1294H ABCC11 R428Q ABCC11 S294Y ABCC11 T256A ABCC12 A844T ABCC12 D1301Y ABCC12 D634N ABCC12 E918K ABCC12 E928D ABCC12 R1273H ABCC12 V249A ABCC12 V633M ABCC12 V867I ABCC2 A1450V ABCC2 A478V ABCC2 D1396N ABCC2 F5L ABCC2 R260W ABCC2 S789P ABCC2 S978L ABCC3 L351P ABCC3 P652L ABCC3_ENST00000427699 L351P ABCC4 A1203V ABCC4 A1279T ABCC4 G34D ABCC4 G770R ABCC4 T988M ABCC4_ENST00000376887 A1203V ABCC4_ENST00000376887 G34D ABCC4_ENST00000376887 T988M ABCC5 Q190H ABCC5 R1267Q ABCC5 R385C ABCC5 T1055M ABCC5_ENST00000382494 Q190H ABCC6 E253Q ABCC8 A1184V ABCC8 A1302T ABCC8 D1354G ABCC8 D1354N ABCC8 D424N ABCC8 E1399K ABCC8 R1393C ABCC9 F858L ABCC9 K506Q ABCC9 R1154W ABCC9 R1546C ABCC9 R1546H ABCC9 S51G ABCC9 S562R ABCC9 V19A ABCC9_ENST00000261201 F858L ABCC9_ENST00000261201 K506Q ABCC9_ENST00000261201 R1154W ABCC9_ENST00000261201 S51G ABCC9_ENST00000261201 S562R ABCC9_ENST00000261201 V19A ABCD1 R259W ABCD1 R401W ABCD2 A286T ABCD2 E374G ABCD2 M216T ABCD2 N394H ABCD2 T211M ABCD3 F142L ABCD3 M133V ABCD3 R390W ABCD3 R642S ABCD3 S360N ABCD3_ENST00000315713 F142L ABCD3_ENST00000315713 M133V ABCE1 E307V ABCF1 P9L ABCF1 S20N ABCF3 M460I ABCF3 M460V ABCF3 R591C ABCF3 T272I ABCG1 H488R ABCG1 R675W ABCG1 S526L ABCG1_ENST00000398457 H478R ABCG1_ENST00000398457 R665W ABCG1_ENST00000398457 S516L ABCG2 E190G ABCG2 N288T ABCG2 S88L ABCG2_ENST00000237612 E190G ABCG2_ENST00000237612 N288T ABCG2_ENST00000237612 S88L ABCG4 A334T ABCG4 C597Y ABCG4 P483L ABCG4 T513A ABCG5 P431L ABCG5 V233I ABCG8 I544M ABCG8 R184H ABCG8 V538G ABHD1 G11D ABHD10 K195R ABHD10 L290I ABHD12 G392S ABHD12 V289M ABHD12B E225D ABHD12B H74Q ABHD12B K203T ABHD12B L199P ABHD12B_ENST00000337334 E302D ABHD12B_ENST00000337334 K280T ABHD12B_ENST00000337334 K92N ABHD12B_ENST00000337334 L276P ABHD12_ENST00000339157 V289M ABHD13 S221N ABHD15 R413Q ABHD16B R133S ABHD2 D423N ABHD2 L240P ABHD2 R156W ABHD2 R254W ABHD2 R409C ABHD3 G374D ABHD3 L69I ABHD4 R305W ABHD5 D243N ABHD5 E128D ABHD5 I322M ABHD6 K334R ABHD8 F197L ABI1 R138W ABI2 F462L ABI2 L73R ABI2 R231I ABI2 S244G ABI3 G144D ABI3BP E1011K ABI3BP K999T ABI3BP P508L ABI3BP P673S ABI3BP R805L ABI3BP T643P ABI3BP Y389C ABI3BP_ENST00000383691 E964K ABI3BP_ENST00000383691 K952T ABI3BP_ENST00000383691 P626S ABI3BP_ENST00000383691 R342H ABI3BP_ENST00000383691 R758L ABI3BP_ENST00000383691 T596P ABI3BP_ENST00000471714 E1712K ABI3BP_ENST00000471714 K1700T ABI3BP_ENST00000471714 P1349S ABI3BP_ENST00000471714 P556L ABI3BP_ENST00000471714 R1506L ABI3BP_ENST00000471714 T1319P ABI3BP_ENST00000471714 Y438C ABL1 A397P ABL1 A399T ABL1 A433T ABL1 A56T ABL1 A922V ABL1 D276G ABL1 E255K ABL1 E255V ABL1 E279K ABL1 E282G ABL1 E292V ABL1 E352G ABL1 E355A ABL1 E355G ABL1 E450A ABL1 E450G ABL1 E453K ABL1 E459G ABL1 E459K ABL1 F311I ABL1 F311L ABL1 F317L ABL1 F317V ABL1 F359A ABL1 F359C ABL1 F359I ABL1 F359V ABL1 F359Y ABL1 F382L ABL1 F486S ABL1 F72V ABL1 G250E ABL1 G321E ABL1 G390W ABL1 H396P ABL1 H396R ABL1 I360S ABL1 I418V ABL1 L248V ABL1 L273M ABL1 L298V ABL1 L364I ABL1 L384M ABL1 L387M ABL1 M237I ABL1 M244V ABL1 M351T ABL1 M388L ABL1 P480L ABL1 P662L ABL1 P918L ABL1 Q252H ABL1 S417Y ABL1 T277A ABL1 T315A ABL1 T315I ABL1 V186I ABL1 V289F ABL1 V299L ABL1 V379I ABL1 Y253C ABL1 Y253F ABL1 Y253H ABL1 Y326H ABL1 Y353H ABL1_ENST00000372348 A75T ABL1_ENST00000372348 E478G ABL2 K799T ABL2 R342Q ABL2 R544Q ABL2 T717A ABL2 V432I ABL2_ENST00000502732 G24D ABL2_ENST00000502732 R580Q ABL2_ENST00000502732 V468I ABL2_ENST00000512653 R565Q ABL2_ENST00000512653 V453I ABLIM2 A110V ABLIM3 A669S ABLIM3 I260V ABLIM3 R513C ABLIM3 R534Q ABLIM3 V51L ABP1 A9T ABP1 C181Y ABP1 G171V ABP1 N641S ABP1 S137F ABR A124T ABR E405K ABR V510I ABT1 A178T ABT1 R150H ABT1 R164C ABT1 R170H ABT1 R204H ABT1 R244H ABT1 V121M ABTB1 D116N ABTB1 G383V ABTB1 R465W ABTB1 V117M ABTB2 K691T ABTB2 L582M ABTB2 R313G ABTB2 R829H ABTB2 S429P AC002472.13 L61M AC002472.13 Q206H AC013469_8-2 H323R AC013469_8-2 P135R AC013469_8-2 R53W AC013469_8-2 V98L AC079612.1 V122A AC092070_2 T119K AC097374_3 E49G AC097374_3 Q82K AC097374_3 R201Q AC127391_4 L252P AC129492.6 F89C AC129492.6_ENST00000399413 F89C AC142381_2_ENST00000356559 A23S ACAA1 M1I ACAA1 S124L ACACA A954T ACACA G168V ACACA G260E ACACA I1814N ACACA M1175V ACACA R1629Q ACACA R1673C ACACA R1673H ACACA R922Q ACACA V1019A ACACA_ENST00000353139 A1049T ACACA_ENST00000353139 G263V ACACA_ENST00000353139 I1909N ACACA_ENST00000353139 M1270V ACACA_ENST00000353139 R1017Q ACACA_ENST00000353139 R1724Q ACACA_ENST00000353139 R1768H ACACA_ENST00000353139 V1114A ACACB A603T ACACB G1792D ACACB G1981D ACACB G208D ACACB M1253I ACACB M1253V ACACB P583H ACACB R1365C ACACB R1487H ACACB R1543H ACACB R2360C ACACB R615W ACACB S715L ACACB V244M ACACB_ENST00000543201 G458D ACACB_ENST00000543201 G647D ACACB_ENST00000543201 R153H ACACB_ENST00000543201 R209H ACACB_ENST00000543201 R31C ACAD10 D268Y ACAD10 G601V ACAD10 H1057R ACAD10 P724L ACAD10 R939H ACAD11 K207Q ACAD8 G275R ACAD8 R389W ACAD9 F70L ACADL D211N ACADL R51I ACADL S210G ACADM F48C ACADM G195R ACADM I250N ACADM K256E ACADS R247C ACADS R330H ACADS S252R ACADSB A340T ACADSB E266K ACADSB E318D ACADSB T382M ACADVL D466G ACADVL N157D ACADVL P652L ACAN A1099T ACAN A248T ACAN D1964G ACAN E438D ACAN F361L ACAN G2365W ACAN G625S ACAN G950R ACAN L758R ACAN P775H ACAN Q1684K ACAN R2232H ACAN R93H ACAN R95W ACAN T1289A ACAN V328I ACAN V94M ACAP1 E505D ACAP1 K185T ACAP1 R129Q ACAP1 R148W ACAP1 R535H ACAP2 N111D ACAP2 N92H ACAP2 R349H ACAP2 V649A ACAP3 A608V ACAP3 G380S ACAP3 H409Q ACAP3 R602C ACAP3 T669M ACAP3 V61M ACAP3_ENST00000354700 A683V ACAP3_ENST00000354700 G422S ACAP3_ENST00000354700 H451Q ACAP3_ENST00000354700 R677C ACAP3_ENST00000354700 T744M ACAP3_ENST00000354700 V103M ACAT1 G341R ACAT1 R258C ACAT2 G161S ACAT2 I106M ACBD3 E233Q ACBD4 E83D ACBD4 N208H ACBD4_ENST00000431281 E83D ACBD5 E276K ACBD5_ENST00000396271 E311K ACBD6 D250G ACBD7 D22Y ACCN1 F460V ACCN1 R198H ACCN1_ENST00000359872 F409V ACCN1_ENST00000359872 R138W ACCN1_ENST00000359872 R30H ACCN1_ENST00000359872 R41W ACCN1_ENST00000359872 V50M ACCN2 C367W ACCN2 R190C ACCN2 T316M ACCN3 L299I ACCN3 L359P ACCN3 T201A ACCN3_ENST00000357922 L299I ACCN3_ENST00000357922 L359P ACCN3_ENST00000357922 T201A ACCN4 G40R ACCN4 L525M ACCN4 M555R ACCN4 R325H ACCN4 V643G ACCN5 G247V ACCN5 M104V ACCN5 P294H ACCS R370H ACCS S393L ACCS V202M ACCS V293M ACD L52I ACE A1252V ACE E788G ACE N413K ACE2 L450P ACE2 P284S ACE2 S47C ACER1 A145T ACER1 I173S ACER1 R258Q ACER1 R55C ACER1 Y75C ACE_ENST00000290863 A678V ACE_ENST00000290863 E214G ACHE P80S ACHE P81L ACHE_ENST00000412389 P80S ACHE_ENST00000412389 P81L ACIN1 R1034C ACIN1 R1160Q ACIN1_ENST00000338631 R307C ACLY A613V ACLY G664R ACLY T10M ACLY V741I ACMSD A162V ACMSD G24R ACN9 K28T ACO1 V768I ACO1 W782R ACO1_ENST00000379923 V768I ACO1_ENST00000379923 W782R ACO2 A106V ACO2 E289K ACO2 G240S ACO2 R56H ACO2 V643I ACOT1 T202M ACOT11 A319V ACOT11 G202C ACOT11 R184H ACOT11 R314H ACOT11_ENST00000371316 A319V ACOT11_ENST00000371316 G202C ACOT11_ENST00000371316 R184H ACOT11_ENST00000371316 R314H ACOT12 K114T ACOT7 A267T ACOT7 V202A ACOT7_ENST00000377842 A226T ACOT7_ENST00000377845 A247T ACOT8 R86W ACOT9 R41Q ACOT9 V280A ACOX1 E311V ACOX1_ENST00000301608 E311V ACOX2 L673P ACOX3 D507N ACOX3 E283K ACOX3 G43S ACOX3 M277L ACOX3 R328H ACOX3 R334H ACOX3 V567L ACOXL A101V ACOXL D504N ACOXL E107K ACOXL V160I ACOXL Y86S ACOXL_ENST00000439055 A101V ACOXL_ENST00000439055 D474N ACOXL_ENST00000439055 E107K ACOXL_ENST00000439055 V160I ACOXL_ENST00000439055 Y86S ACP2 F323L ACP2 R161C ACP2 R86C ACP6 K236E ACP6 R162H ACP6 V235A ACPL2 G343R ACPP K91Q ACPP P349T ACPP R105Q ACPP R28L ACPP R43W ACPP_ENST00000351273 K91Q ACPP_ENST00000351273 P349T ACPP_ENST00000351273 R105Q ACPP_ENST00000351273 R28L ACPP_ENST00000351273 R43W ACPT D110G ACPT V230I ACRBP H108Y ACRC A264V ACRC K308N ACRC R664C ACRC S186L ACRC S258N ACRC S285P ACRC S295P ACRV1 R257Q ACRV1 S260Y ACSBG1 E384K ACSBG1 K447N ACSBG1 L141R ACSBG1 R437C ACSBG1 R565H ACSBG1 Y138N ACSBG2 A225T ACSBG2 E79K ACSBG2 I283M ACSBG2 L386F ACSF2 A332T ACSF2 L27P ACSF3 A131V ACSF3 R318C ACSF3 R388H ACSL1 E131G ACSL1 F617C ACSL3 K720R ACSL3 R681C ACSL3 S226Y ACSL3 T188S ACSL3 V658A ACSL3_ENST00000357430 K720R ACSL3_ENST00000357430 R681C ACSL3_ENST00000357430 S226Y ACSL3_ENST00000357430 T188S ACSL3_ENST00000357430 V658A ACSL4 P239H ACSL4 R133H ACSL4 R45I ACSL4 Y394C ACSL5 G466D ACSL5 K444R ACSL6 D400N ACSL6 I611L ACSL6 N181K ACSL6 P462L ACSL6 R374H ACSL6 S635C ACSL6 V505I ACSL6_ENST00000379264 D400N ACSL6_ENST00000379264 I611L ACSL6_ENST00000379264 N181K ACSL6_ENST00000379264 P462L ACSL6_ENST00000379264 S635C ACSL6_ENST00000379264 V505I ACSM1 D435Y ACSM1 R133Q ACSM1 R28H ACSM1 V398I ACSM1_ENST00000219151 D86Y ACSM1_ENST00000219151 V17I ACSM2A D396Y ACSM2A D431N ACSM2A T249S ACSM2A T491M ACSM2B E490G ACSM2B P416A ACSM2B P486S ACSM3 V123I ACSM3_ENST00000440284 V123I ACSM4 D331Y ACSM4 E530D ACSM4 K531T ACSM4 R99Q ACSM4_ENST00000399422 D331Y ACSM4_ENST00000399422 E530D ACSM4_ENST00000399422 K531T ACSM4_ENST00000399422 R99Q ACSM5 A226P ACSM5 D449V ACSM5 Q148R ACSM5 R137W ACSM5 V497A ACSS1 A315P ACSS1 L497P ACSS1 V488M ACSS2 T264P ACSS3 A266V ACSS3 A338E ACSS3 K606R ACSS3 L294R ACSS3 P26L ACSS3 R652G ACTA1 R314H ACTA2 E109D ACTA2 P166A ACTA2 R97H ACTB V139A ACTB V287M ACTB Y91C ACTBL2 E215Q ACTBL2 F201L ACTBL2 H162N ACTBL2 R38C ACTBL2 V371I ACTC1 S241G ACTG1 D311N ACTG1 M190I ACTL6A L157F ACTL6B E385G ACTL6B H248Y ACTL6B K86N ACTL6B R338C ACTL7A A349T ACTL7B A410G ACTL7B D247N ACTL7B R354H ACTL8 A168T ACTL8 R365G ACTL8 R48H ACTL8 V157M ACTL8 V292A ACTL8 W328C ACTL9 F350L ACTL9 P298L ACTL9 R171H ACTL9 R190C ACTL9 R331H ACTL9 R400Q ACTL9 R400W ACTL9 S89L ACTN1 K198T ACTN1 N473S ACTN2 A257V ACTN2 A882T ACTN2 D693N ACTN2 E520A ACTN2 L104W ACTN2 R506I ACTN2 R852W ACTN4 E327K ACTN4 R339W ACTR10 R342Q ACTR1B F57L ACTR1B R199H ACTR2 Y325H ACTR3B G356R ACTR3B V377M ACTR5 A583T ACTR5 R12H ACTR5 R450Q ACTR5 R518W ACTR5 S389N ACTR6 R332L ACTR8 A4G ACTRT1 G302R ACTRT1 K316R ACTRT1 R231C ACTRT1 V38I ACTRT2 Y56C ACVR1 S290L ACVR1B D402E ACVR1B G214V ACVR1B G407S ACVR1B W275R ACVR1B_ENST00000541224 D443E ACVR1B_ENST00000541224 G214V ACVR1B_ENST00000541224 R530H ACVR1B_ENST00000541224 W316R ACVR1C A255T ACVR1C I319T ACVR1C R234C ACVR1C S78F ACVR2A I488V ACVR2A R400C ACVR2A R400H ACVR2B_ENST00000352511 E286K ACVR2B_ENST00000352511 E50K ACVR2B_ENST00000352511 K434N ACVR2B_ENST00000352511 V290A ACVRL1 R47Q ACVRL1 T277M ACY1 E103Q ACY1 Q26R ACY3 R159W ADA G360E ADA R253W ADAD1 A29V ADAD1 E85G ADAD1 K365N ADAD1 R508Q ADAD1 S11L ADAD1 S346Y ADAD1 T424A ADAD1 Y139C ADAD2 A48V ADAD2 G595W ADAD2 S62L ADAM10 G500E ADAM10 K714N ADAM10 R239Q ADAM11 M403V ADAM11 R140Q ADAM11 R284C ADAM11 R311W ADAM11_ENST00000200557 R284C ADAM11_ENST00000200557 R311W ADAM12 A303V ADAM12 D399G ADAM12 D51G ADAM12 H871R ADAM12 L792F ADAM12 R449C ADAM12 Y310H ADAM12_ENST00000368676 A303V ADAM12_ENST00000368676 D399G ADAM12_ENST00000368676 R449C ADAM12_ENST00000368676 Y310H ADAM12_ENST00000368679 A303V ADAM12_ENST00000368679 D399G ADAM12_ENST00000368679 H871R ADAM12_ENST00000368679 R449C ADAM12_ENST00000368679 Y310H ADAM15 G138W ADAM17 R725H ADAM18 E712K ADAM18 K409T ADAM18 K44N ADAM18 N172Y ADAM18 P170S ADAM18 P538T ADAM18 R543W ADAM18 T487A ADAM18 T583A ADAM19 E178K ADAM19 H350Q ADAM19 R134Q ADAM19 S850P ADAM19_ENST00000257527 E177K ADAM19_ENST00000257527 S849P ADAM2 E181D ADAM2 G424V ADAM2 K441E ADAM2 L650V ADAM20 C748R ADAM21 A676T ADAM21 F448Y ADAM21 S199F ADAM21_ENST00000267499 A676T ADAM21_ENST00000267499 F448Y ADAM21_ENST00000267499 S199F ADAM22 G341R ADAM22 G341V ADAM22 G361W ADAM22 M160V ADAM22_ENST00000265727 G341V ADAM22_ENST00000265727 M160V ADAM22_ENST00000315984 G341V ADAM22_ENST00000315984 G361W ADAM22_ENST00000315984 M160V ADAM23 A157T ADAM23 I794M ADAM23 R292C ADAM23 T712M ADAM23_ENST00000374416 R292C ADAM23_ENST00000374416 T712M ADAM28 D470G ADAM28 R578Q ADAM28 R578W ADAM29 C446Y ADAM29 C604Y ADAM29 D463Y ADAM29 G403D ADAM29 G589E ADAM29 G60S ADAM29 H641P ADAM29 I257F ADAM29 K537N ADAM29 P31L ADAM29 Q731H ADAM29 Q814H ADAM29 R213C ADAM29 R696Q ADAM29 S115F ADAM29 T746M ADAM29 V205I ADAM29 V69A ADAM30 F167V ADAM30 N462D ADAM30 P104L ADAM30 S314Y ADAM30 V159I ADAM30 V481I ADAM32 D332A ADAM32 E215K ADAM32 F367L ADAM32 P452L ADAM32 R511I ADAM32 R559Q ADAM32 W710C ADAM7 G302E ADAM7 P14S ADAM7 R31C ADAM9 R725I ADAM9 T593M ADAMTS1 C714F ADAMTS1 K771N ADAMTS1 L355I ADAMTS1 R190W ADAMTS1 R258H ADAMTS1 R52C ADAMTS1 R551I ADAMTS1 R812C ADAMTS1 S94G ADAMTS1 V652I ADAMTS10 A55T ADAMTS10 C1002Y ADAMTS10 E646K ADAMTS10 P176S ADAMTS10 R182H ADAMTS10 R768H ADAMTS10 S570Y ADAMTS12 A23T ADAMTS12 E302K ADAMTS12 E566D ADAMTS12 H402Y ADAMTS12 N494S ADAMTS12 Q325H ADAMTS12 R1398Q ADAMTS12 R604W ADAMTS12 R690H ADAMTS12 T1263M ADAMTS12 V465I ADAMTS12 V593I ADAMTS12_ENST00000515401 A23T ADAMTS13 A1145T ADAMTS13 D921G ADAMTS13 G316D ADAMTS13 R398H ADAMTS13 S1233Y ADAMTS13 V964M ADAMTS13 Y957H ADAMTS14 A956T ADAMTS14 C877W ADAMTS14 D297N ADAMTS14 G1206W ADAMTS14 G238C ADAMTS14 G721R ADAMTS14 G765S ADAMTS14 L174F ADAMTS14 R337H ADAMTS14 R879C ADAMTS14 S1004I ADAMTS14 V682I ADAMTS15 A765V ADAMTS15 A870T ADAMTS15 C555Y ADAMTS15 D189N ADAMTS15 D372A ADAMTS15 I54T ADAMTS15 Q770R ADAMTS15 R507I ADAMTS15 Y799F ADAMTS16 A947S ADAMTS16 C683R ADAMTS16 D817N ADAMTS16 G993R ADAMTS16 K130N ADAMTS16 L238I ADAMTS16 L344I ADAMTS16 N615K ADAMTS16 P921S ADAMTS16 R44H ADAMTS16 R71M ADAMTS16 V1011E ADAMTS16_ENST00000274181 A947S ADAMTS16_ENST00000274181 C683R ADAMTS16_ENST00000274181 D817N ADAMTS16_ENST00000274181 G993R ADAMTS16_ENST00000274181 K130N ADAMTS16_ENST00000274181 L238I ADAMTS16_ENST00000274181 L344I ADAMTS16_ENST00000274181 N615K ADAMTS16_ENST00000274181 P921S ADAMTS16_ENST00000274181 R44H ADAMTS16_ENST00000274181 R71M ADAMTS16_ENST00000274181 V1011E ADAMTS17 D434G ADAMTS17 G895D ADAMTS17 L748M ADAMTS17 P466L ADAMTS17 R1075H ADAMTS17 T900M ADAMTS18 A833V ADAMTS18 E678D ADAMTS18 F485S ADAMTS18 F750L ADAMTS18 G429D ADAMTS18 G448R ADAMTS18 G891E ADAMTS18 I540V ADAMTS18 K528N ADAMTS18 N905H ADAMTS18 P452S ADAMTS18 R1094Q ADAMTS18 R382G ADAMTS18 R382K ADAMTS18 R651W ADAMTS18 R664C ADAMTS18 R823H ADAMTS18 R902Q ADAMTS18 S367R ADAMTS18 T604A ADAMTS18 V896I ADAMTS19 A1028S ADAMTS19 I1112T ADAMTS19 I1112V ADAMTS19 K438N ADAMTS19 L360I ADAMTS19 M426I ADAMTS19 Q889R ADAMTS19 R656Q ADAMTS19 R969Q ADAMTS19 S1207G ADAMTS19 S1207R ADAMTS19 T238A ADAMTS2 A1005T ADAMTS2 A1020E ADAMTS2 A685T ADAMTS2 D617N ADAMTS2 E428K ADAMTS2 L849M ADAMTS2 R368Q ADAMTS2 R691H ADAMTS2 R941H ADAMTS2 S1147Y ADAMTS20 A95T ADAMTS20 C1648Y ADAMTS20 I1718S ADAMTS20 M228I ADAMTS20 N1781H ADAMTS20 N702T ADAMTS20 R598H ADAMTS20 R63Q ADAMTS20 T152M ADAMTS20 T550M ADAMTS20_ENST00000389420 A95T ADAMTS20_ENST00000389420 E1617D ADAMTS20_ENST00000389420 I1718S ADAMTS20_ENST00000389420 K1625N ADAMTS20_ENST00000389420 L1001R ADAMTS20_ENST00000389420 M228I ADAMTS20_ENST00000389420 N1542D ADAMTS20_ENST00000389420 N1781H ADAMTS20_ENST00000389420 N702T ADAMTS20_ENST00000389420 P1274L ADAMTS20_ENST00000389420 R1000C ADAMTS20_ENST00000389420 R1044W ADAMTS20_ENST00000389420 R598H ADAMTS20_ENST00000389420 R63Q ADAMTS20_ENST00000389420 R807I ADAMTS20_ENST00000389420 S1346P ADAMTS20_ENST00000389420 T152M ADAMTS20_ENST00000389420 V1166I ADAMTS3 A251V ADAMTS3 A336V ADAMTS3 A531P ADAMTS3 D223A ADAMTS3 F180L ADAMTS3 G226D ADAMTS3 K756N ADAMTS4 A232T ADAMTS4 A52T ADAMTS4 D320Y ADAMTS4 E769D ADAMTS4 Q483R ADAMTS4 R156W ADAMTS4 R760C ADAMTS4 V152M ADAMTS4_ENST00000367996 A232T ADAMTS4_ENST00000367996 A52T ADAMTS4_ENST00000367996 E769D ADAMTS4_ENST00000367996 Q483R ADAMTS4_ENST00000367996 R760C ADAMTS4_ENST00000367996 V152M ADAMTS5 I547N ADAMTS5 K759N ADAMTS5 L667V ADAMTS5 P205L ADAMTS5 P877L ADAMTS5 P919H ADAMTS5 R170C ADAMTS5 R257W ADAMTS5 R614H ADAMTS5 R614S ADAMTS5 S875L ADAMTS5 T607A ADAMTS5 T746I ADAMTS5 Y784C ADAMTS6 Q210R ADAMTS6 R192C ADAMTS6 T108M ADAMTS6_ENST00000381055 N838D ADAMTS6_ENST00000381055 Q1039R ADAMTS6_ENST00000381055 R1021C ADAMTS6_ENST00000381055 S210L ADAMTS6_ENST00000381055 T937M ADAMTS7 A636V ADAMTS7 A722T ADAMTS7 C1668Y ADAMTS7 D869A ADAMTS7 E1422K ADAMTS7 G115S ADAMTS7 N1071S ADAMTS7 R1666C ADAMTS8_ENST00000257359 R622H ADAMTS8_ENST00000414575 R651H ADAMTS9 E1432K ADAMTS9 E186D ADAMTS9 E1931D ADAMTS9 M1264I ADAMTS9 P1601L ADAMTS9 R1604C ADAMTS9 R177Q ADAMTS9 R1816Q ADAMTS9 R209C ADAMTS9 R209H ADAMTS9 S501Y ADAMTS9 T1535A ADAMTS9 V1272M ADAMTSL1 D87G ADAMTSL1_ENST00000380548 D87G ADAMTSL1_ENST00000380548 G1000R ADAMTSL1_ENST00000380548 S1026F ADAMTSL3 A1117V ADAMTSL3 H1400N ADAMTSL3 H415N ADAMTSL3 P1186L ADAMTSL3 Q23P ADAMTSL3 R1139W ADAMTSL3 R231W ADAMTSL3 R509H ADAMTSL3 R587H ADAMTSL3 R854W ADAMTSL3 R855C ADAMTSL3 R938G ADAMTSL3 V1317M ADAMTSL3 V979M ADAMTSL3 W81C ADAMTSL3 W81R ADAMTSL4 R455C ADAMTSL4 R519W ADAMTSL5 L240F ADAMTSL5 R357H ADAP1 A111D ADAP1 G305D ADAR F744L ADAR N857I ADAR R1026W ADAR R767L ADARB1 R244H ADARB1 S583L ADARB1 S639G ADARB1_ENST00000389863 R244H ADARB1_ENST00000389863 S583L ADARB1_ENST00000389863 S639G ADARB2 A303T ADARB2 A332T ADARB2 L595I ADARB2 R456Q ADARB2 T447M ADARB2 T692M ADAT1 A473V ADAT3 A183V ADAT3 D271N ADAT3 R261C ADC A360V ADCK1 D335Y ADCK1_ENST00000238561 D403Y ADCK2 P34S ADCK2 R509W ADCK3 D117N ADCK3_ENST00000366779 D396N ADCK4 A256V ADCK4 A86T ADCK4 H174R ADCK4 R518H ADCK4_ENST00000324464 A256V ADCK4_ENST00000324464 A86T ADCK4_ENST00000324464 H174R ADCK4_ENST00000324464 R518H ADCK5 L389R ADCK5 P474Q ADCK5 R17S ADCK5 R449C ADCY1 A991T ADCY1 D997N ADCY1 G359S ADCY1 N1004S ADCY1 R1008Q ADCY1 R1008W ADCY1 R345C ADCY1 R346C ADCY1 R672C ADCY1 S711L ADCY1 T401A ADCY10 A1157V ADCY10 F336L ADCY10 H1515Y ADCY10 P438L ADCY10 S607Y ADCY10 V676I ADCY2 F612V ADCY2 G385D ADCY2 K937R ADCY2 L665P ADCY2 M767I ADCY2 M848T ADCY2 P1016T ADCY2 P894L ADCY2 R480H ADCY2 S100T ADCY2 T687A ADCY2 V118F ADCY2 V784I ADCY2 V888I ADCY3 A160T ADCY3 E947V ADCY3 P131L ADCY3 Q150H ADCY4 A42T ADCY4 A68V ADCY4 P28L ADCY4 Q853R ADCY4 R450W ADCY4 T802I ADCY5 A1054T ADCY5 A363V ADCY5 A482V ADCY5 G623C ADCY5 M659I ADCY5 P222L ADCY5 R1117W ADCY5 R346C ADCY5 R661H ADCY6 R739W ADCY7 G435R ADCY7 R388H ADCY7 R495Q ADCY7 V927M ADCY8 A314V ADCY8 A992V ADCY8 F881L ADCY8 G422A ADCY8 L216M ADCY8 N854K ADCY8 P474L ADCY8 Q303E ADCY8 R179C ADCY8 R772Q ADCY8 R772W ADCY8 S705Y ADCY8 T1218A ADCY8 T555A ADCY8 V633M ADCY9 L833M ADCY9 M1197V ADCY9 S710L ADCY9 S900L ADCY9 V1215I ADCY9 V558M ADCY9 Y1184H ADCYAP1 E45K ADCYAP1 R172Q ADCYAP1R1 G341R ADCYAP1R1 H182L ADCYAP1R1 R288I ADCYAP1R1 S222P ADCYAP1R1 T286M ADD1 D96Y ADD2 R432G ADD2_ENST00000264436 R432G ADD2_ENST00000264436 S686L ADD2_ENST00000264436 T675M ADD2_ENST00000430656 R448G ADD3 E30A ADD3 F689V ADD3 R434H ADGB A1470V ADGB S568P ADH1A K19N ADH1B S194P ADH4 F324I ADH4 L272I ADH4 V259G ADH5 R369Q ADH6 K232E ADH6_ENST00000394899 K232E ADH7 F210L ADH7_ENST00000476959 F218L ADHFE1 R259M ADHFE1 S165L ADHFE1_ENST00000396623 A2T ADHFE1_ENST00000396623 R307M ADHFE1_ENST00000396623 S213L ADI1 K144E ADIPOQ D59Y ADIPOQ E89K ADIPOQ G34E ADK G108V ADK V301A ADM M9L ADNP A529T ADNP I247V ADNP K266N ADNP P993L ADNP2 H233D ADNP2 I1102V ADNP2 V355A ADORA1 E170G ADORA1 P73S ADORA1 P86L ADORA1 S50L ADORA2A M211T ADORA2B L310P ADORA3 A105T ADORA3 F80L ADORA3 R111W ADORA3_ENST00000369716 F80L ADORA3_ENST00000369716 G190V ADORA3_ENST00000369716 R289H ADORA3_ENST00000369717 R208H ADPGK L176I ADPRHL2 A17S ADRA1A K372N ADRA1A_ENST00000354550 K372N ADRA1A_ENST00000380573 K372N ADRA1A_ENST00000380582 K372N ADRA1B L283R ADRA1B R77W ADRA1D A324T ADRA2B A140T ADRA2B E86K ADRA2B V142I ADRA2B_ENST00000409345 A140T ADRA2B_ENST00000409345 E86K ADRA2B_ENST00000409345 V142I ADRA2C A144V ADRA2C L109V ADRB1 R165H ADRB2 N398S ADRB2 S396G ADRB3 A107T ADRB3 A392V ADRB3 R155W ADRBK1 F452L ADRBK1 M229V ADRBK1 R173W ADRBK2 D500E ADRBK2 R104G ADRBK2 R578H ADRBK2 S168C ADRM1 A256V ADSL I106T ADSL P24L ADSL T354M ADSL_ENST00000216194 P24L ADSL_ENST00000216194 T354M ADSSL1 E437D AEBP1 A776V AEBP1 A923T AEBP1 D559Y AEBP1 K140N AEBP1 K753N AEBP1 P142L AEBP1 P322L AEBP1 P349T AEBP1 T866I AES L25R AFAP1 A158T AFAP1 A492V AFAP1 A597V AFAP1 K163N AFAP1 R361H AFAP1 S124P AFAP1L1 R170S AFAP1L1 R285H AFAP1L1 R436H AFAP1L1 V711M AFAP1L2 A38V AFAP1L2 D149G AFAP1L2 L172P AFAP1L2 P642H AFAP1L2_ENST00000541919 A56V AFAP1L2_ENST00000541919 D167G AFAP1L2_ENST00000541919 L190P AFAP1_ENST00000420658 A158T AFAP1_ENST00000420658 A492V AFAP1_ENST00000420658 K163N AFAP1_ENST00000420658 P572T AFAP1_ENST00000420658 R361H AFAP1_ENST00000420658 S124P AFF1_ENST00000395146 A696T AFF1_ENST00000395146 L999P AFF1_ENST00000395146 Q1212R AFF1_ENST00000395146 R809S AFF1_ENST00000395146 T898I AFF2 A1244S AFF2 A134T AFF2 A248V AFF2 K868T AFF2 N165T AFF2 P239L AFF2 P252S AFF2 P605T AFF2 Q14R AFF2 Q529H AFF2 R1305L AFF2 R926H AFF2 R927C AFF2 S393L AFF2_ENST00000286437 A885S AFF2_ENST00000286437 R567H AFF2_ENST00000286437 R568C AFF2_ENST00000370460 A1244S AFF2_ENST00000370460 A248V AFF2_ENST00000370460 N165T AFF2_ENST00000370460 P239L AFF2_ENST00000370460 P252S AFF2_ENST00000370460 Q14R AFF2_ENST00000370460 R926H AFF2_ENST00000370460 R927C AFF3 D1117N AFF3 R59I AFF3 S923Y AFF3 T220I AFF3 V44A AFF4 G539E AFF4 K747T AFF4 R17Q AFF4 R560K AFF4 R831Q AFF4 S636F AFF4 S757P AFF4 S757T AFG3L2 R283Q AFG3L2 R711I AFG3L2 R783Q AFM G225V AFM G225W AFM L158I AFM T281M AFMID E24D AFMID E250K AFP A317V AFP L179I AFP R337I AFP T210A AFP Y60D AFTPH K333T AFTPH R54H AFTPH R736Q AFTPH_ENST00000238855 K333T AFTPH_ENST00000238855 R54H AFTPH_ENST00000238855 R736Q AGA I112V AGAP1 A139T AGAP1 A195V AGAP1 D296N AGAP1 D541N AGAP1 G542S AGAP1 K527N AGAP1 M432T AGAP1 T414M AGAP10 H228R AGAP10 S223I AGAP10_ENST00000413193 H228R AGAP10_ENST00000413193 S223I AGAP2 A339T AGAP2 K107N AGAP2_ENST00000547588 K443N AGAP3 A661T AGAP3 G271R AGAP3 N491H AGAP3 P343T AGAP3 R481H AGAP3 R513C AGAP3 R763C AGAP3 S305L AGAP3 V311M AGAP3 W742L AGAP3_ENST00000473312 G271R AGAP3_ENST00000473312 P343T AGAP3_ENST00000473312 S305L AGAP3_ENST00000473312 V311M AGAP4 V627A AGAP4 V627I AGAP5 C8R AGAP6 A82G AGAP6 H132R AGAP6 K295N AGAP6 R137C AGAP6 S220P AGBL1 G167V AGBL1 T719M AGBL2 E800D AGBL2 G635R AGBL2 K808T AGBL2 K858R AGBL3 D139N AGBL3 D458E AGBL3 F29C AGBL3 R319W AGBL3 R441Q AGBL3 R825M AGBL3 T891A AGBL4 A353T AGBL4 I160S AGBL4 M15V AGBL4 N84T AGBL4 S236P AGBL4 S282F AGBL4 V311I AGBL5 A240T AGBL5 M764L AGBL5 R699Q AGBL5 S425N AGBL5 S664F AGBL5 S682F AGBL5 V695I AGBL5_ENST00000323064 A240T AGBL5_ENST00000323064 S425N AGBL5_ENST00000323064 V695I AGC1 A248T AGC1 D1964G AGC1 E438D AGC1 F361L AGC1 G2365W AGC1 G625S AGC1 L758R AGC1 Q1684K AGC1 R2232H AGC1 R93H AGC1 R95W AGC1 V328I AGFG1 G340R AGFG1 K523R AGFG1_ENST00000409979 G364R AGFG1_ENST00000409979 K545R AGFG2 R143G AGFG2 R143K AGGF1 K583N AGGF1 K646N AGGF1 R688Q AGK R9Q AGL D489G AGL L1059I AGL R1097C AGL R1487Q AGL V210I AGMAT L195P AGMAT V313M AGPAT2 R121W AGPAT2 R90C AGPAT4 A212T AGPAT6 A411V AGPAT6 I31T AGPAT6 R43H AGPAT9 G429S AGPHD1 A267T AGPS A276V AGPS D180V AGPS K143T AGR2 P126H AGR3 Y143S AGRN A1506V AGRN C540R AGRN D1865H AGRN R1308C AGRN R339H AGRN S330R AGT A479S AGT D156H AGT D64Y AGT E423A AGT M268T AGT P71T AGTPBP1 G761W AGTPBP1 L520P AGTPBP1 R262W AGTPBP1 R545I AGTR1 R137C AGTR1 R140C AGTR1 R167Q AGTR2 K76E AGTR2 L218I AGTR2 R350Q AGTR2 R350W AGTR2 V184I AGTRAP M109V AGXT A186V AGXT A294V AGXT I46F AGXT2 F108L AGXT2 L342V AGXT2 T79M AGXT2L1 R468K AGXT2L1 V236A AGXT2L2 R195H AGXT2L2_ENST00000308158 R195H AHCTF1 G1460S AHCTF1 G192C AHCTF1 L1411P AHCTF1 L671I AHCTF1 N178T AHCTF1 R581C AHCTF1 T1909A AHCY R233Q AHCYL1 D405A AHCYL1 R365W AHCYL2 A488V AHCYL2 D287G AHCYL2_ENST00000474594 A385V AHDC1 A709V AHDC1 H1455R AHDC1 R743L AHDC1 Y1002C AHI1 E795V AHI1 L71P AHI1 P508S AHI1 Q294R AHI1 T1034A AHI1 T850A AHNAK A3200V AHNAK E3455K AHNAK F4073C AHNAK F5768L AHNAK G1840W AHNAK G90W AHNAK H2125N AHNAK I2702T AHNAK I3214S AHNAK K1652T AHNAK K2141E AHNAK K5022T AHNAK K730N AHNAK L2105F AHNAK L2241P AHNAK L4394S AHNAK M1067V AHNAK M1857V AHNAK N1026T AHNAK P2656L AHNAK P3859H AHNAK P4127A AHNAK P5276A AHNAK P5445S AHNAK V1940A AHNAK V4051A AHNAK2 E650G AHNAK2 N621S AHNAK2 P367A AHNAK2_ENST00000333244 A3792T AHNAK2_ENST00000333244 D4773G AHNAK2_ENST00000333244 E5680G AHNAK2_ENST00000333244 F4963C AHNAK2_ENST00000333244 G2494R AHNAK2_ENST00000333244 G2891S AHNAK2_ENST00000333244 G3250D AHNAK2_ENST00000333244 K2170R AHNAK2_ENST00000333244 K3847N AHNAK2_ENST00000333244 L3729V AHNAK2_ENST00000333244 M3891T AHNAK2_ENST00000333244 N5651S AHNAK2_ENST00000333244 P3227S AHNAK2_ENST00000333244 P902L AHNAK2_ENST00000333244 R321W AHNAK2_ENST00000333244 S2207T AHNAK2_ENST00000333244 S4966Y AHNAK2_ENST00000333244 T114M AHNAK2_ENST00000333244 V1186A AHNAK2_ENST00000333244 V3889M AHNAK2_ENST00000333244 V4034M AHNAK_ENST00000257247 G90W AHR D132N AHR M348V AHR T821A AHR V660M AHRR A301V AHRR R72H AHSA2 M86T AHSA2 M86V AHSA2_ENST00000430934 M249V AHSG A285T AHSG P269T AHSG V128A AHSP D9Y AHSP R71W AICDA A111T AICDA L180I AICDA R128W AICDA R131G AIFM1 D87G AIFM1 K589N AIFM1 K589R AIFM2 G231D AIFM3 T226M AIFM3 V337I AIM1 A73S AIM1 E498G AIM1 I1639M AIM1 Y925C AIM1L D226G AIM1L E414K AIM1L_ENST00000527815 D397G AIM1L_ENST00000527815 E585K AIM2 Q137R AIM2 Q141K AIM2 T333S AIMP2 R65C AIMP2 T314M AIP D45N AIP R323W AIP Y261H AIPL1 P113S AIPL1 R302H AIPL1 V269M AJAP1 A218T AJAP1 E179A AJAP1 N387T AJAP1 R15C AK1 K131E AK2 D112N AK2_ENST00000373449 D112N AK4 L209P AK5 G146D AK5 R13M AK5 R257H AK5 R93W AK7 R640C AK7 R681I AK8 D243A AK8 V297F AKAP1 L11W AKAP1 S828N AKAP11 C837G AKAP11 K1227T AKAP11 K629Q AKAP11 R1608G AKAP11 S285P AKAP11 S589P AKAP12 E1282K AKAP12 E1311A AKAP12 E147K AKAP12 E164K AKAP12 E240K AKAP12 G983V AKAP12 K1734E AKAP12 L243P AKAP12 R671H AKAP12 R814Q AKAP12 S850P AKAP13 G1510R AKAP13 K2759N AKAP13 K809E AKAP13 M1278I AKAP13 R2015H AKAP13 S2198R AKAP13 Y33N AKAP13_ENST00000394518 G1510R AKAP13_ENST00000426424 R91H AKAP13_ENST00000426424 S274R AKAP14 S110N AKAP14 V128I AKAP2 A139D AKAP3 F354L AKAP3 H325R AKAP3 I598F AKAP3 K433N AKAP3 R255G AKAP3 S356L AKAP3 S571Y AKAP3_ENST00000545990 F354L AKAP3_ENST00000545990 H325R AKAP3_ENST00000545990 I598F AKAP3_ENST00000545990 K433N AKAP3_ENST00000545990 R255G 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I2828N AKAP9_ENST00000356239 L3482I AKAP9_ENST00000356239 P1381L AKAP9_ENST00000356239 Q1162R AKAP9_ENST00000356239 R3310W AKAP9_ENST00000356239 R3758C AKAP9_ENST00000356239 S2485Y AKAP9_ENST00000356239 T211A AKAP9_ENST00000356239 T2701N AKAP9_ENST00000356239 V1101A AKD1 R48H AKD1 R58H AKD1 R58S AKD1_ENST00000424296 N1301I AKD1_ENST00000424296 R48H AKD1_ENST00000424296 R58H AKIRIN1 R143C AKIRIN2 K86T AKNA A1315V AKNA A1331V AKNA D278Y AKNA D552G AKNA E611A AKNA E930G AKNA L231M AKNA P1046T AKNA R1198W AKNA S375I AKNAD1 C654Y AKNAD1 E478D AKNAD1 S780P AKR1B1 A35T AKR1B1 F116S AKR1B10 G119V AKR1B15 Q230H AKR1B15_ENST00000423958 Q184H AKR1B15_ENST00000457545 Q212H AKR1C1 V151M AKR1C2 M151V AKR1C3 D300Y AKR1C3 F15L AKR1C4 E149G AKR1C4 F89L AKR1C4 R7C AKR1C4 S162P AKR1C4 T127M AKR1C4 V150I AKR1C4 V228A AKR1D1 A153V AKR1D1 H93R AKR1D1 S31L AKR7A2 G95V AKT1 E17K AKT1 K39N AKT1 L52R AKT1 R121W AKT3 E17K AKT3 F207L AKT3 K172Q AKT3_ENST00000336199 F207L AKT3_ENST00000366539 F207L AL445989.1 F92Y AL445989.1_ENST00000453638 F92Y AL512274_9 T37A ALAD L356P ALAD_ENST00000409155 L327P ALAS1 D188A ALAS1 M342I ALAS1 R429W ALAS1 S311P ALAS2 R368Q ALAS2 R411C ALAS2_ENST00000330807 R368Q ALAS2_ENST00000330807 R411C ALAS2_ENST00000396198 R355Q ALAS2_ENST00000396198 R398C ALB F173V ALB H312R ALB P523S ALB R24Q ALB S294L ALCAM A69T ALCAM E460G ALCAM H330N ALCAM V184L ALCAM Y470C ALDH16A1 A581V ALDH16A1 A782G ALDH16A1 E755K ALDH16A1 R329W ALDH16A1 R334Q ALDH16A1 R726W ALDH18A1 A80T ALDH18A1 R456C ALDH18A1 R514Q ALDH18A1 R55H ALDH18A1 R64H ALDH1A2 D107G ALDH1A2 D107N ALDH1A2 E416D ALDH1A2 I295T ALDH1A2 V509M ALDH1A3 A194T ALDH1A3 A470T ALDH1A3 S86L ALDH1A3 V503A ALDH1B1 N333I ALDH1B1 R18C ALDH1B1 T283I ALDH1L1 A266V ALDH1L1 A504V ALDH1L1 A870T ALDH1L1 T441I ALDH1L1 W536G ALDH1L2 D491Y ALDH1L2 M600I ALDH1L2 R714Q ALDH1L2 V720L ALDH2 A120V ALDH2 L189P ALDH2 V57I ALDH2_ENST00000261733 A120V ALDH2_ENST00000261733 L189P ALDH2_ENST00000261733 V57I ALDH3A1 F271L ALDH3A2 G408R ALDH3A2 I371V ALDH3A2 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Y1278S ALK Y262H ALKBH3 N168T ALKBH3 P260S ALKBH4 A248T ALKBH5 L340V ALKBH5 R327C ALKBH7 P161L ALKBH8_ENST00000417449 S315R ALKBH8_ENST00000428149 A383T ALKBH8_ENST00000428149 S315R ALKBH8_ENST00000428149 W657C ALLC M138I ALLC R176Q ALLC T83M ALMS1 A3390V ALMS1 D3857G ALMS1 E2022D ALMS1 K1121N ALMS1 L1058F ALMS1 L1423V ALMS1 L313S ALMS1 N359H ALMS1 Q1061R ALMS1 S290R ALMS1 S513P ALOX12 E184Q ALOX12 R599C ALOX12 R599S ALOX12 T405A ALOX12B K241T ALOX12B M105I ALOX15 E398D ALOX15 P299S ALOX15 R466W ALOX15 V100M ALOX15B A236T ALOX15B A239T ALOX15B L289V ALOX15B Y149C ALOX15B Y256C ALOX5 E274D ALOX5 L267M ALOX5 R652H ALOX5 V51M ALOX5AP F92C ALOX5AP R117H ALOXE3 G557S ALOXE3 R56H ALOXE3 S81A ALOXE3 V591L ALOXE3_ENST00000318227 G689S ALOXE3_ENST00000318227 R188H ALOXE3_ENST00000318227 S213A ALPI A350V ALPI A460V ALPI P305T ALPI T293M ALPK1 A144S ALPK1 A86T ALPK1 I1124M ALPK1 K1125E ALPK1 V296M ALPK2 A1098V ALPK2 A360D ALPK2 A655E ALPK2 A68V ALPK2 E270G ALPK2 E41G ALPK2 K837E ALPK2 K837R ALPK2 Q463R ALPK2 S187Y ALPK2 T1471A ALPK2_ENST00000361673 A1294E ALPK2_ENST00000361673 A1737V ALPK2_ENST00000361673 A702V ALPK2_ENST00000361673 A994D ALPK2_ENST00000361673 E478K ALPK2_ENST00000361673 E675G ALPK2_ENST00000361673 E904G ALPK2_ENST00000361673 K1476E ALPK2_ENST00000361673 K1476R ALPK2_ENST00000361673 N545K ALPK2_ENST00000361673 Q1102R ALPK2_ENST00000361673 S821Y ALPK2_ENST00000361673 T2110A ALPK2_ENST00000361673 T514A ALPK2_ENST00000361673 T514M ALPK3 A1436V ALPK3 E1461D ALPK3 P1299L ALPK3 P949S ALPK3 Q433E ALPK3 R1254C ALPK3 R642Q ALPK3 S698N ALPK3_ENST00000258888 A1436V ALPK3_ENST00000258888 E1461D ALPK3_ENST00000258888 P1299L ALPK3_ENST00000258888 R1254C ALPK3_ENST00000258888 R642Q ALPK3_ENST00000258888 S698N ALPP A198T ALPP P4S ALPPL2 A97S ALPPL2 P509R ALPPL2 S99T ALS2 F792V ALS2 P258Q ALS2 Q1303R ALS2 R350W ALS2 S492F ALS2CL A257T ALS2CL F406L ALS2CL R134W ALS2CL R607W ALS2CL S650N ALS2CR11 R135C ALS2CR11_ENST00000439140 K951I ALS2CR11_ENST00000439140 R135C ALS2CR11_ENST00000439140 S1210Y ALS2CR11_ENST00000439140 S1427A ALS2CR11_ENST00000439140 S659Y ALS2CR11_ENST00000450242 R135C ALS2CR12 K259N ALS2CR12 N373K ALS2CR12 N74Y ALS2CR12 R30C ALS2CR8 P256L ALS2CR8 R292K ALS2CR8 R484S ALS2CR8 S615T ALS2_ENST00000467448 P258Q ALS2_ENST00000467448 R350W ALX1 A95S ALX1 P276S ALX1 Q198H ALX1 R312Q ALX4 A64T ALX4 M364T ALX4 R218Q ALX4 R244Q AMAC1 A312G AMAC1 R335K AMAC1L2 T184I AMAC1L2 V140L AMAC1L2 W103R AMACR H308Y AMACR V9M AMBN L21M AMBN S73Y AMBP K88T AMBP R349C AMBP W114L AMBRA1 R250S AMBRA1 R662H AMBRA1 S982N AMBRA1 T460P AMBRA1_ENST00000458649 R250S AMBRA1_ENST00000458649 R752H AMBRA1_ENST00000458649 S1072N AMBRA1_ENST00000458649 T550P AMDHD1 A107T AMDHD1 R141Q AMDHD1 V172M AMDHD1 V58F AMDHD2 A218V AMDHD2 K120E AMDHD2 V413M AMFR L110V AMFR R352Q AMFR R596H AMHR2 A366T AMHR2 R463H AMICA1 I84N AMICA1 R73H AMIGO2 H268N AMIGO3 D477N AMIGO3 E168K AMIGO3 L50V AMIGO3 Q316H AMIGO3 R15H AMIGO3 V454I AMMECR1 R173C AMMECR1L R229H AMN1 M19V AMOT R37Q AMOT R62C AMOT Y190S AMOTL1 P376S AMOTL1 P418Q AMOTL1 R568Q AMOTL1 R676Q AMOTL1 V56E AMOTL2 A695T AMOTL2 G198A AMOT_ENST00000371959 R446Q AMOT_ENST00000371959 R471C AMOT_ENST00000371959 S175G AMOT_ENST00000371959 Y599S AMPD1 D293Y AMPD1 D703N AMPD1 E681K AMPD1 K469N AMPD1 L598F AMPD1 R196Q AMPD1 V130A AMPD1 V444I AMPD1_ENST00000520113 D326Y AMPD1_ENST00000520113 D736N AMPD1_ENST00000520113 L631F AMPD1_ENST00000520113 R229Q AMPD1_ENST00000520113 V163A AMPD2_ENST00000393689 E550G AMPD2_ENST00000393689 R377H AMPD2_ENST00000393689 R457W AMPD2_ENST00000393689 R546H AMPD2_ENST00000393689 R854H AMPD2_ENST00000393689 V222A AMPD3 L724M AMPD3 R171Q AMPD3 R91W AMPH F183L AMPH L255F AMPH P601T AMPH R292W AMY2A G53E AMY2B A239E AMY2B T463A AMZ2 P280L ANAPC1 K543T ANAPC1 M347T ANAPC1 P222A ANAPC1 Q910R ANAPC1 T416M ANAPC1 T537A ANAPC2 K625E ANAPC2 R323C ANAPC4 V220A ANAPC5 A734V ANAPC5 N91H ANAPC5 Q617H ANAPC5 Y358C ANAPC7 L240M ANG V7I ANGEL1 A669T ANGEL1 E639D ANGEL1 R585H ANGEL2 H448R ANGEL2 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Q202L ANKRD13C T452M ANKRD13D A136V ANKRD13D A302T ANKRD13D D344N ANKRD13D R191H ANKRD13D_ENST00000511455 A223V ANKRD13D_ENST00000511455 A389T ANKRD13D_ENST00000511455 D431N ANKRD13D_ENST00000511455 R278H ANKRD16 P74H ANKRD17 A572V ANKRD17 K1505N ANKRD17 L1237M ANKRD17 L677P ANKRD17 Q2313R ANKRD17 S2255G ANKRD17 S2255R ANKRD17 S792N ANKRD18A A108V ANKRD18A A759V ANKRD18A N723D ANKRD18A T85A ANKRD18B R556H ANKRD2 R127W ANKRD20A1 K256N ANKRD20A2 D45N ANKRD20A4 V483L ANKRD24 L655I ANKRD24 R593Q ANKRD24 S118G ANKRD24 T499M ANKRD24_ENST00000262970 H451Y ANKRD24_ENST00000262970 L1222I ANKRD24_ENST00000262970 S316G ANKRD24_ENST00000262970 T723M ANKRD24_ENST00000262970 V1061M ANKRD24_ENST00000318934 H361Y ANKRD24_ENST00000318934 L1132I ANKRD24_ENST00000318934 R1028Q ANKRD24_ENST00000318934 S226G ANKRD24_ENST00000318934 T633M ANKRD24_ENST00000318934 V971M ANKRD26 A892T ANKRD26 E1205Q ANKRD26 E890K ANKRD26 F5C ANKRD26 K1300N ANKRD26 K894Q ANKRD26 M1522I ANKRD26 M358V ANKRD26 Q287R ANKRD26 V516G ANKRD27 C88R ANKRD28 D276H ANKRD28 G118E ANKRD28 I115S ANKRD28 P458R ANKRD28_ENST00000383777 D842H ANKRD28_ENST00000383777 I681S ANKRD28_ENST00000383777 P1024R ANKRD28_ENST00000383777 R208C ANKRD28_ENST00000383777 R401C ANKRD28_ENST00000383777 R401H ANKRD29 G112W ANKRD30A A353P ANKRD30A H1283N ANKRD30A I327T ANKRD30A I327V ANKRD30A K437N ANKRD30A K449N ANKRD30A K468E ANKRD30A L1017P ANKRD30A N454H ANKRD30A P319A ANKRD30A P818H ANKRD30A P854S ANKRD30A R429W ANKRD30A T306M ANKRD30A T608A ANKRD30A T768A ANKRD30A V276E ANKRD30A V79I ANKRD30BL A170T ANKRD30BL A178V ANKRD30BL S230C ANKRD30BL T247M ANKRD30BL_ENST00000409867 A170T ANKRD30BL_ENST00000409867 A178V ANKRD30BL_ENST00000409867 S230C ANKRD30BL_ENST00000409867 T247M ANKRD31 D702N ANKRD31 E490D ANKRD31_ENST00000274361 D702N ANKRD31_ENST00000274361 E490D ANKRD31_ENST00000274361 G1211D ANKRD31_ENST00000274361 N1060T ANKRD32 S67P ANKRD32 T363N ANKRD32_ENST00000265140 L335S ANKRD32_ENST00000265140 P443H ANKRD32_ENST00000265140 S703P ANKRD32_ENST00000265140 T334A ANKRD32_ENST00000265140 T999N ANKRD34A A458V ANKRD34A T420M ANKRD34A T79M ANKRD34B A140D ANKRD34B R24H ANKRD34B R362I ANKRD34C E45K ANKRD34C K367N ANKRD35 A512D ANKRD35 R245W ANKRD36 K978N ANKRD36 W1084G ANKRD36C H662R ANKRD36C L540I ANKRD36C_ENST00000420871 H662R ANKRD36C_ENST00000420871 L540I ANKRD36_ENST00000420699 D1014Y ANKRD36_ENST00000420699 H203L ANKRD36_ENST00000420699 K1148N ANKRD36_ENST00000420699 T998S ANKRD36_ENST00000420699 W1280G ANKRD37 E9K ANKRD40 D99E ANKRD40 R177W ANKRD42 L325P ANKRD42 R266C ANKRD43 D377N ANKRD44 A820V ANKRD44 D410G ANKRD44 P545S ANKRD44_ENST00000409153 D435G ANKRD44_ENST00000424317 A660V ANKRD44_ENST00000424317 D250G ANKRD44_ENST00000424317 P385S ANKRD45 V48I ANKRD49 R91W ANKRD49 S43G ANKRD5 R186C ANKRD5 S248L ANKRD50 A469V ANKRD50 C36Y ANKRD50 F224L ANKRD50 K32E ANKRD50 L121F ANKRD50 Q1230R ANKRD50 R324C ANKRD50 R918Q ANKRD52 A297V ANKRD52 A868T ANKRD52 R103Q ANKRD52 R389C ANKRD52 T1045M ANKRD53 V181I ANKRD53_ENST00000360589 L523P ANKRD53_ENST00000360589 V181I ANKRD54 H69R ANKRD54 P12Q ANKRD55 D491N ANKRD55 P591S ANKRD55 R48W ANKRD55 T144M ANKRD57 G260C ANKRD6 D293Y ANKRD6 R479C ANKRD7 N2T ANKRD7 Q63H ANKRD7 R66I ANKRD9 E142K ANKRD9 Q268H ANKRD9 R66H ANKS1A A1073V ANKS1A L1131H ANKS1A Q1112K ANKS1A R884H ANKS1A_ENST00000373990 A399V ANKS1A_ENST00000373990 L490H ANKS1A_ENST00000373990 Q471K ANKS1A_ENST00000373990 R210H ANKS1B D301N ANKS1B G172R ANKS1B K1151R ANKS1B K663R ANKS1B L263F ANKS1B P116Q ANKS1B Y745H ANKS1B_ENST00000549493 K401R ANKS3 A404T ANKS3 L635M ANKS4B A398D ANKS4B N75S ANKS6 A871V ANKS6 F615C ANKS6 G236V ANKS6 R541Q ANKUB1 G251D ANKZF1 R146Q ANKZF1 R164Q ANKZF1 R303Q ANKZF1 R320Q ANKZF1 R617W ANLN L461Q ANLN Q649R ANLN R1040C ANLN T294S ANO1 R246W ANO10 A572V ANO10 E133Q ANO10 K606R ANO10 M373V ANO1_ENST00000355303 R246W ANO2 D656N ANO2 F198S ANO2 G356V ANO2 I824N ANO2 N161I ANO2 N246S ANO2 N401T ANO2 R569H ANO2 S832C ANO2 S891L ANO2 S993Y ANO2 T709I ANO2_ENST00000327087 D656N ANO2_ENST00000327087 F198S ANO2_ENST00000327087 G356V ANO2_ENST00000327087 I824N ANO2_ENST00000327087 N161I ANO2_ENST00000327087 N246S ANO2_ENST00000327087 N401T ANO2_ENST00000327087 R569H ANO2_ENST00000327087 S891L ANO2_ENST00000327087 S993Y ANO2_ENST00000327087 T709I ANO3 F708L ANO3 R514H ANO3 R727Q ANO3 R799W ANO3 V2G ANO4 D877Y ANO4 F717C ANO4 F861C ANO4 G581R ANO4 R373M ANO4 R446W ANO4 R69I ANO4 R763H ANO4 S350G ANO4 S6P ANO4 T573I ANO4 Y736H ANO5 F568V ANO5 G347D ANO5 L113I ANO5 L695P ANO5 M352I ANO5 N567H ANO5 Q679P ANO5 R127I ANO6 Q413R ANO6 R253C ANO6 R712C ANO6 R862C ANO6_ENST00000425752 Q413R ANO6_ENST00000425752 R253C ANO6_ENST00000425752 R712C ANO7 A130T ANO7 A183T ANO7 A204V ANO7 A431T ANO7 A538T ANO7 D874G ANO7 G269D ANO7 G763D ANO7 L411Q ANO7 R149C ANO7 R336H ANO7 R451H ANO7 R578H ANO7 S65I ANO8 L474P ANO8 R1036Q ANO8 R140C ANO8 R711Q ANO9 R42C ANO9 S85G ANP32A L228F ANP32A S158L ANP32C L11P ANP32C T122A ANP32E E33D ANP32E R67Q ANPEP P95H ANPEP R218Q ANPEP R576H ANPEP V109I ANTXR1 A173V ANTXR1 A192V ANTXR1 K451N ANTXR1 R551S ANTXR1_ENST00000409829 A173V ANTXR1_ENST00000409829 A192V ANTXR2 K161T ANTXR2_ENST00000403729 K161T ANTXR2_ENST00000403729 R484Q ANXA1 R72Q ANXA10 M83V ANXA13 A133T ANXA3 E172K ANXA3 K101T ANXA3 R260Q ANXA6 A150V ANXA6 G140C ANXA6_ENST00000354546 A98V ANXA6_ENST00000354546 G88C ANXA7 G104E ANXA7 I223S ANXA7 Q77H ANXA9 A23T AOAH L17M AOC2 G463S AOC2 S311L AOC3 E457K AOC3 G454D AOC3 G508R AOC3 H525Y AOC3 N375D AOC3 V539I AOX1 A507V AOX1 A664V AOX1 D555Y AOX1 D862N AOX1 K1237E AOX1 K949E AOX1 K949N AOX1 R290K AP001011.2_ENST00000261598 D184G AP001011.2_ENST00000261598 K1456E AP001011.3_ENST00000320876 D184G AP001011.3_ENST00000320876 K1456E AP1AR S174A AP1B1 G638C AP1B1 N904S AP1B1 R114C AP1B1 S798G AP1B1 T849I AP1B1 V326M AP1G1 D507N AP1G1 I107T AP1G1 I508S AP1G1 M745T AP1G1 S149F AP1G2 A522V AP1G2 D43N AP1G2 G286R AP1G2 K109N AP1G2 R167W AP1G2 R346Q AP1G2 R760H AP1G2 S78F AP1M1 H288P AP1M1 R303W AP1M2 R19C AP1M2 V110I AP2A1 A489T AP2A1 F864L AP2A1 G335D AP2A1 K61E AP2A1 K6N AP2A1 N509D AP2A1 R464H AP2A1 R959C AP2A1 S179L AP2A1 V373I AP2A1_ENST00000359032 A489T AP2A1_ENST00000359032 F864L AP2A1_ENST00000359032 G335D AP2A1_ENST00000359032 K61E AP2A1_ENST00000359032 K6N AP2A1_ENST00000359032 N509D AP2A1_ENST00000359032 R464H AP2A1_ENST00000359032 R959C AP2A1_ENST00000359032 V373I AP2A2 A799V AP2A2 R632Q AP2A2 T189A AP2A2 V382M AP3B1 A884T AP3B1 E275K AP3B1 R104Q AP3B1 R227H AP3B1 T835I AP3B2 A579V AP3B2 E717G AP3B2 E924K AP3B2 G271S AP3B2 G710S AP3B2 L809F AP3B2 S849L AP3D1 E209K AP3D1 E863A AP3D1 S471R AP3M1 R263H AP3M2 S287F AP3S2 V124A AP4B1 A660V AP4B1 A76D AP4B1 R276W AP4B1 R290C AP4B1 R290H AP4B1 T733A AP4E1 E164K AP4E1 L90P AP4E1 S987R AP4M1 G39R AP4M1 K184N AP4M1 N132S AP4S1 E75D AP4S1_ENST00000542754 E75D AP4S1_ENST00000542754 L138I APAF1 D825A APAF1 E146G APAF1 K131M APAF1 K131R APAF1 L140F APBA1 A296T APBA1 A427V APBA1 D474G APBA1 E373K APBA1 E624K APBA1 K498I APBA1 K730N APBA1 R492M APBA1 S568P APBA2 A57V APBA2 E316Q APBA2 E95G APBA2 P168L APBA2 R102H APBA2 R214H APBA2 R608H APBA2 R695L APBA2 V174D APBA3 R358W APBA3 T178M APBB1 E565K APBB1 G136D APBB1 G513V APBB1 P64S APBB1IP A487V APBB1IP H183R APBB1IP N363D APBB1IP N363S APBB1IP P270S APBB1IP R335W APBB2 S402Y APBB3 I76L APBB3 S248R APBB3 T73M APC A1296E APC A1305E APC A1366V APC A465T APC D67G APC E1151G APC E1286V APC E1306K APC E1317Q APC E1345G APC E1353D APC E1353V APC E1374K APC E1451G APC E1461G APC E1552G APC E1554G APC E1645Q APC E771G APC E853G APC E853V APC F1197L APC F1197S APC G1120E APC G1339A APC G1339D APC G1499R APC H1009R APC H1009Y APC H1375Y APC H464R APC I1307K APC I1307V APC I880T APC K1308E APC K1310R APC K1454E APC K1551E APC K792R APC L1129S APC L1488F APC L852S APC M1431T APC M2047V APC N1290K APC N813S APC N942D APC P1319L APC P1319T APC P1361L APC P1369H APC P1420L APC P1432H APC P1453S APC P1609L APC Q1067R APC Q1406R APC Q1477R APC Q1541R APC Q264R APC Q625R APC R1105W APC R141S APC R1463G APC R2816Q APC R653K APC R653M APC R876Q APC R919S APC S1276L APC S1278P APC S1281P APC S130G APC S1315P APC S1321G APC S1327P APC S1341R APC S1355P APC S1355Y APC S1364G APC S1395C APC S1398G APC S1400L APC S1400P APC S1434R APC S1495G APC S1495I APC S1545L APC S1842L APC S1861Y APC S2307L APC S2631P APC S596L APC T1301S APC T1313A APC T1537A APC T1537K APC T1705A APC V1326A APC V1326M APC V1414G APC Y1102C APC2 L96M APC2 V1684M APC2 Y1795C APCDD1 R125W APCDD1 R303H APCDD1 R513H APCDD1 V366L APCDD1L A3S APCDD1L A49V APCDD1L E417K APCDD1L F462L APCDD1L R180W APCDD1L R346C APCDD1L R444H APCDD1L T340M APCDD1L V145I APCS E155G APCS L133F APEH F356L APEH L645H APEX1 A273T APEX1 R193C APEX1 R221H APEX2 R173C APH1A R31C APH1A Y91C APH1B K69T APH1B T27I API5 A120V API5 L141P API5_ENST00000531273 A120V APIP A104D APITD1 S43N APITD1_ENST00000309048 S43N APLF D334N APLF F63L APLF R41I APLF S164Y APLNR R317H APLP1 M329V APLP1 V380I APLP2 A253V APLP2 E226D APLP2 R320G APLP2 R494Q APOA1 V10M APOA2 A5T APOA4 A183T APOA4 E344K APOA5 A195T APOA5 R204H APOB A2045V APOB A43V APOB A4481V APOB A913V APOB D1722N APOB E1976G APOB E1976K APOB E2802K APOB G1181C APOB G210R APOB G3716C APOB G724C APOB H2067N APOB K1661R APOB K2195R APOB K3627N APOB K859N APOB L1527P APOB L4299I APOB N2035S APOB P4200S APOB Q1789P APOB R1388C APOB R1513Q APOB R3136C APOB R50W APOB S2980F APOB S3036Y APOB S3503L APOB V2997M APOBEC1 D75N APOBEC1 E41K APOBEC2 D26N APOBEC3A G8R APOBEC3B I118T APOBEC3C A109V APOBEC3C R44H APOBEC3C R45C APOBEC3D_ENST00000381568 F267S APOBEC3F R121H APOBEC3G F204L APOBEC3G Y340H APOBEC3G_ENST00000407997 F204L APOBEC3G_ENST00000407997 Y340H APOBEC3H E152D APOBEC3H N15K APOBEC4 Q328K APOBEC4 S74Y APOBEC4 T144M APOBR E352D APOBR S341L APOD I172T APOE R258H APOE R56C APOE S147N APOF P319T APOH S3Y APOL1 E108G APOL1 I204V APOL1 R319H APOL3 A125T APOL3_ENST00000349314 A196T APOL4_ENST00000352371 A142T APOL4_ENST00000352371 L326P APOL5 G216R APOL5 M256V APOM H152Y APOO R113I APOO T81M APP G68D APP L28P APP R359Q APP R469H APPBP2 E569D APPL1 P264H APPL1 R505Q APPL1 R539H APPL1 R668W APPL1 S496Y APPL2 I83T APPL2 K573N APPL2 K613T APPL2 R497W APPL2 T561N APRT D35G APRT_ENST00000378364 D35G APRT_ENST00000426324 D35G APTX R43C APTX R56G APTX_ENST00000379813 E334K APTX_ENST00000379813 R42G AQP10 G138D AQP10 P101T AQP10 P150T AQP10 V92I AQP12A A70V AQP12B A38T AQP12B T129M AQP2 H177N AQP2 N68T AQP3 F220V AQP4 A192T AQP5 G191D AQP6 F39L AQP7 A188T AQP7 G180R AQP7 L231P AQP7 Y266S AQP8 A143T AQP8 R213H AQP8 T254A AQP8_ENST00000219660 A143T AQP8_ENST00000219660 R213H AQP8_ENST00000219660 T254A AQP9 E287D AQP9 T26P AQR A668V AQR P746L AQR R1288H AQR R905I AQR V15A AQR W197C AR F814V AR H875Y AR L57Q AR L702H AR Q58L AR Q75L AR S244L AR T878A AR V478A ARAF Q383H ARAF V522L ARAP1 L363M ARAP1_ENST00000393609 L608M ARAP1_ENST00000393609 R76H ARAP2 G294V ARAP2 I1380V ARAP2 K1496N ARAP2 Y139H ARAP3 A1045V ARAP3 D1420V ARAP3 I1085M ARAP3 I1085T ARAP3 P4H ARAP3 R308H ARAP3 R37Q ARAP3 R471W ARAP3 T1428P ARC Q243H ARC V68I ARC W253C ARCN1 R435Q ARF1 R19C ARF4 R149H ARF4 W78G ARFGAP1 A158T ARFGAP1 P153Q ARFGAP2 R109Q ARFGAP3 E290G ARFGEF1 D1632N ARFGEF1 E1374G ARFGEF1 E1449K ARFGEF1 E294G ARFGEF1 M725I ARFGEF1 N584H ARFGEF1 Q1001R ARFGEF1 Q1490R ARFGEF1 S1593P ARFGEF1 S495L ARFGEF2 E73K ARFGEF2 K1727R ARFGEF2 K794E ARFGEF2 P27H ARFGEF2 R1109C ARFGEF2 R1348Q ARFGEF2 R379H ARFGEF2 S1213T ARFGEF2 S1266P ARFGEF2 S218F ARFGEF2 T1597M ARFIP2 F182L ARG1 C45Y ARG1 F15L ARG1 R71M ARG1 V24L ARGFX K134N ARGFX N106T ARGFX S84Y ARGLU1 A186T ARHGAP10 E180K ARHGAP10 F538L ARHGAP10 F558L ARHGAP10 K299R ARHGAP10 P281L ARHGAP10 P677T ARHGAP10 R400I ARHGAP10 V348I ARHGAP10 V406I ARHGAP10 V520D ARHGAP11A E605K ARHGAP11A I688V ARHGAP11A K152N ARHGAP11A M614I ARHGAP11A N978I ARHGAP11A R436C ARHGAP11A R839H ARHGAP11B P233L ARHGAP12 G279V ARHGAP12 K484N ARHGAP12 R208I ARHGAP12 R74H ARHGAP12 S516P ARHGAP15 D48N ARHGAP15 R200I ARHGAP15 R27I ARHGAP15 V408F ARHGAP17 D471V ARHGAP17 E236K ARHGAP17_ENST00000289968 D471V ARHGAP17_ENST00000289968 E236K ARHGAP18 D640V ARHGAP19 K78E ARHGAP19_ENST00000358531 K259E ARHGAP20 A1077V ARHGAP20 D1019G ARHGAP20 D452G ARHGAP20 D709N ARHGAP20 D987Y ARHGAP20 K816R ARHGAP20 Q892K ARHGAP20 S802Y ARHGAP20 Y665C ARHGAP20 Y806H ARHGAP21 E1462K ARHGAP21 E1811K ARHGAP21 I806V ARHGAP21 K640T ARHGAP21 L310F ARHGAP21 R1767W ARHGAP21 S1508K ARHGAP21 S1508T ARHGAP21 T1551A ARHGAP21 V1146I ARHGAP21 V1814I ARHGAP22 A351T ARHGAP22 E667G ARHGAP22 R433Q ARHGAP22 R594H ARHGAP23 A1335T ARHGAP23 P1163L ARHGAP24 S276N ARHGAP24_ENST00000395184 S369N ARHGAP25 A258V ARHGAP25 M132T ARHGAP25 P506S ARHGAP25_ENST00000409202 A265V ARHGAP25_ENST00000409202 M139T ARHGAP26 A383T ARHGAP26 A512P ARHGAP26 L145S ARHGAP26 R501W ARHGAP27 A305V ARHGAP27 M523V ARHGAP28 A343V ARHGAP28 L226R ARHGAP28 L277R ARHGAP28_ENST00000400091 A502V ARHGAP28_ENST00000400091 A71T ARHGAP28_ENST00000400091 E407Q ARHGAP28_ENST00000400091 L385R ARHGAP28_ENST00000400091 L436R ARHGAP29 A1150T ARHGAP29 A959V ARHGAP29 D933G ARHGAP29 D988N ARHGAP29 E1254K ARHGAP29 G1040E ARHGAP29 L598I ARHGAP29 M792T ARHGAP29 R13C ARHGAP29 S552C ARHGAP29 V1202M ARHGAP30 R304H ARHGAP30 R445H ARHGAP30 V345G ARHGAP31 A926V ARHGAP31 F861V ARHGAP31 L1387V ARHGAP31 P673S ARHGAP31 R1231M ARHGAP31 S17N ARHGAP31 S526Y ARHGAP31 S688L ARHGAP32 A1026T ARHGAP32 A63V ARHGAP32 E904K ARHGAP32 F21L ARHGAP32 N1647S ARHGAP32 P1002T ARHGAP32 P999S ARHGAP32 R353H ARHGAP32 S533P ARHGAP32 V214I ARHGAP32_ENST00000310343 A1375T ARHGAP32_ENST00000310343 A412V ARHGAP32_ENST00000310343 E1253K ARHGAP32_ENST00000310343 F370L ARHGAP32_ENST00000310343 N1996S ARHGAP32_ENST00000310343 P1348S ARHGAP32_ENST00000310343 P1351T ARHGAP32_ENST00000310343 Q141H ARHGAP32_ENST00000310343 R190Q ARHGAP32_ENST00000310343 R702H ARHGAP32_ENST00000310343 S882P ARHGAP32_ENST00000310343 V563I ARHGAP33 G1039S ARHGAP33 R772C ARHGAP33 R941H ARHGAP36 A147V ARHGAP36 A27S ARHGAP36 L472P ARHGAP36 P21H ARHGAP36 R128C ARHGAP36 R170W ARHGAP36 R45H ARHGAP36 R463H ARHGAP36 R483W ARHGAP39 D326N ARHGAP39 G446R ARHGAP39 G774C ARHGAP39 P1055S ARHGAP39 R737W ARHGAP39 R933C ARHGAP39 R94W ARHGAP39 V59I ARHGAP4 E209A ARHGAP40 E227K ARHGAP40 K252T ARHGAP40_ENST00000373345 E456K ARHGAP40_ENST00000373345 K481T ARHGAP40_ENST00000373345 R608C ARHGAP40_ENST00000373345 V219M ARHGAP42 Q702R ARHGAP4_ENST00000370028 E209A ARHGAP5 A808S ARHGAP5 F276C ARHGAP5 K220N ARHGAP5 K254N ARHGAP5 V474A ARHGAP6 E221G ARHGAP6 R58W ARHGAP8 G290W ARHGAP8 L151V ARHGAP9 P720S ARHGAP9 Q643P ARHGAP9 R445G ARHGAP9 R560Q ARHGAP9 R66C ARHGAP9 S300L ARHGDIB K49N ARHGEF1 F467V ARHGEF1 G100C ARHGEF1 R247W ARHGEF1 R579W ARHGEF1 R69W ARHGEF1 V555M ARHGEF10 F646C ARHGEF10 R721C ARHGEF10 S28L ARHGEF10 T468M ARHGEF10L A96V ARHGEF10L L526I ARHGEF10L P1155S ARHGEF10L T1102I ARHGEF10L_ENST00000361221 L526I ARHGEF10L_ENST00000361221 P1155S ARHGEF10L_ENST00000361221 T1102I ARHGEF10_ENST00000398564 E164G ARHGEF10_ENST00000398564 E189D ARHGEF10_ENST00000398564 F869C ARHGEF10_ENST00000398564 R944C ARHGEF10_ENST00000398564 S251L ARHGEF10_ENST00000398564 T691M ARHGEF11 A787T ARHGEF11 G1505C ARHGEF11 M897V ARHGEF11 R1081W ARHGEF11 R1140W ARHGEF11 R1314L ARHGEF11 R1452H ARHGEF11 R246S ARHGEF11 R46C ARHGEF12 D862N ARHGEF12 M1368I ARHGEF12 P1423L ARHGEF12 S745N ARHGEF15 A74V ARHGEF15 P72H ARHGEF15 R48Q ARHGEF15 R572H ARHGEF15 R613W ARHGEF15 R633W ARHGEF16 E56K ARHGEF16 N178S ARHGEF16 Q154H ARHGEF16_ENST00000378378 A157T ARHGEF16_ENST00000378378 A79T ARHGEF16_ENST00000378378 A94D ARHGEF16_ENST00000378378 E344K ARHGEF16_ENST00000378378 N466S ARHGEF16_ENST00000378378 Q442H ARHGEF16_ENST00000413250 E48K ARHGEF16_ENST00000413250 N170S ARHGEF16_ENST00000413250 Q146H ARHGEF17 A1240V ARHGEF17 I1360T ARHGEF18 S610R ARHGEF18 S640L ARHGEF18_ENST00000359920 P51L ARHGEF18_ENST00000359920 S768R ARHGEF18_ENST00000359920 S798L ARHGEF19 E259D ARHGEF19 R685W ARHGEF2 A861T ARHGEF2 G918D ARHGEF2 M1I ARHGEF2 S494L ARHGEF25 K258R ARHGEF25 R200Q ARHGEF25 R202H ARHGEF25 S144P 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V1610A ASPM V1610D ASPM V2362I ASPN A25T ASPN K252N ASPN K276T ASPN R370K ASPN R84Q ASPN S348R ASPRV1 D232N ASPRV1 E240D ASPRV1 G162W ASPRV1 G203V ASPRV1 V102I ASPSCR1_ENST00000306729 L202F ASPSCR1_ENST00000306729 R299W ASTE1 Q307H ASTE1 V316I ASTL P105H ASTN1 A1019V ASTN1 D589N ASTN1 N1196H ASTN1 N608S ASTN1 P1100L ASTN1 R1004Q ASTN1 R1132W ASTN1 R1208Q ASTN1 R1245H ASTN1 R184H ASTN1 R842C ASTN1 S782L ASTN1 T1123M ASTN1 W871C ASTN1 Y203C ASTN2 A489T ASTN2 D476N ASTN2 F681V ASTN2 G987W ASTN2 Q741K ASTN2 R232C ASTN2 R602C ASTN2 V1242L ASTN2_ENST00000361477 G90W ASXL1 A1248V ASXL1 A1312V ASXL1 A158V ASXL1 D1127G ASXL1 D756N ASXL1 D799Y ASXL1 E1102D ASXL1 F81L ASXL1 G1397S ASXL1 L1107F ASXL1 L1395V ASXL1 L857P ASXL1 L890F ASXL1 N986S ASXL1 P1322R ASXL1 Q588R ASXL1 Q592R ASXL1 R302C ASXL1 R786G ASXL1 S1341N ASXL1 S25L ASXL1 S846N ASXL1 T957S ASXL2_ENST00000435504 S1081L ASXL2_ENST00000435504 S114N ASXL3 D491Y ASXL3 I6S ASXL3 P55L ASXL3 R640W ASXL3 R759M ASXL3 S942F ASXL3 V575I ASXL3_ENST00000269197 A52V ASXL3_ENST00000269197 D106Y ASXL3_ENST00000269197 D784Y ASXL3_ENST00000269197 I299S ASXL3_ENST00000269197 L102F ASXL3_ENST00000269197 P348L ASXL3_ENST00000269197 Q1286H ASXL3_ENST00000269197 R1052M ASXL3_ENST00000269197 R933W ASXL3_ENST00000269197 S1235F ASXL3_ENST00000269197 V868I ASZ1 A5V ASZ1 K208T ATAD1 H256N ATAD1 P186S ATAD1 V107A ATAD2 L185V ATAD2 L938I ATAD2 Q1377R ATAD2 R1367C ATAD2 R156Q ATAD2 R792Q ATAD2 S1275P ATAD2 S1275T ATAD2 T1311A ATAD2B_ENST00000238789 A621T ATAD2B_ENST00000238789 M497T ATAD2B_ENST00000238789 R112L ATAD2B_ENST00000238789 R355G ATAD3A A264S ATAD3A D378N ATAD3A K313N ATAD3B P639S ATAD3B R342W ATAD5 K1453Q ATAD5 K425T ATAD5 R1448H ATCAY A148T ATCAY V13M ATCAY_ENST00000450849 A148T ATCAY_ENST00000450849 V13M ATE1 R56Q ATE1_ENST00000224652 R56Q ATF1_ENST00000262053 D70Y ATF2 D352G ATF3 R156Q ATF5 R70Q ATF6 E346G ATF6 G18E ATF6 H488Y ATF6 V102F ATF6B A623V ATF6B P170L ATF6B S8N ATF7 P410L ATF7IP G46D ATF7IP P159A ATF7IP R696K ATF7IP2_ENST00000396560 A361S ATF7IP2_ENST00000396560 G510C ATF7IP2_ENST00000396560 V57A ATF7_ENST00000328463 P410L ATG12 L166V ATG16L1 A582V ATG16L1 G530V ATG16L1 K41I ATG16L1 K444E ATG16L1 K490N ATG16L1 R286C ATG16L1 R422Q ATG16L1 T445A ATG16L1_ENST00000334050 G189V ATG16L1_ENST00000334050 K149N ATG16L1_ENST00000334050 R241W ATG16L1_ENST00000334050 R81Q ATG16L1_ENST00000334050 T104A ATG2A P1550L ATG2A P321T ATG2A P656S ATG2A R400H ATG2A R574C ATG2B A1715V ATG2B K1374T ATG2B L1052I ATG3 G281W ATG4A G232D ATG4A R187L ATG4A_ENST00000372232 G232D ATG4A_ENST00000372232 R187L ATG4B D159N ATG4C R192Q ATG4C_ENST00000317868 R192Q ATG4D E432K ATG4D R102H ATG4D R339Q ATG5 K58R ATG7 K667N ATG9A R758H ATG9A V87M ATIC_ENST00000236959 C241Y ATIC_ENST00000236959 G439R ATIC_ENST00000236959 G62R ATIC_ENST00000236959 L131V ATIC_ENST00000236959 L384P ATIC_ENST00000236959 R172H ATIC_ENST00000236959 S475L ATIC_ENST00000236959 T182M ATIC_ENST00000236959 V153M ATL1 R55Q ATL2 K417Q ATL2 R104C ATL3 K330T ATL3 N427T ATM A1309T ATM A1742P ATM A2062V ATM A2626V ATM A3006T ATM A3006V ATM A350T ATM C977Y ATM D1208G ATM D1682H ATM D1682Y ATM D1853G ATM D1853N ATM D2725V ATM D479Y ATM E1991G ATM E2014G ATM E2039K ATM E2164K ATM E2164Q ATM E2423G ATM E848Q ATM F1445C ATM F1463L ATM F1463S ATM F570L ATM F570S ATM F858L ATM G138R ATM G2023R ATM G2695A ATM G2867E ATM G449V ATM H2125R ATM H996R ATM I1681T ATM I1681V ATM I2888T ATM I323R ATM I352N ATM K1994R ATM K24T ATM L1718V ATM L1826V ATM L2004P ATM L2033V ATM L2417M ATM L2417P ATM L2427P ATM L2427R ATM L2890V ATM M1040T ATM M1916V ATM N1739S ATM N2875S ATM P2699S ATM P2699T ATM P604S ATM Q1128R ATM Q1537L ATM Q2414R ATM Q2442P ATM Q2593R ATM R13H ATM R1466Q ATM R23Q ATM R2443Q ATM R248L ATM R2832C ATM R2912K ATM R3008C ATM R3008H ATM R3047Q ATM R337C ATM R337H ATM R337S ATM R717L ATM R717W ATM R982C ATM S1905L ATM S2375G ATM S2394P ATM S707P ATM T1743A ATM T1953A ATM T2666A ATM T2947S ATM T915A ATM T935A ATM V1941L ATM V245A ATM V410A ATM V734A ATM Y2124C ATM Y2404D ATM Y2817C ATM Y2954C ATMIN N750H ATMIN Q385R ATM_ENST00000278616 C977Y ATM_ENST00000278616 D1208G ATM_ENST00000278616 D1853G ATM_ENST00000278616 E1991G ATM_ENST00000278616 E2423G ATM_ENST00000278616 F1445C ATM_ENST00000278616 F570L ATM_ENST00000278616 F570S ATM_ENST00000278616 G138R ATM_ENST00000278616 G449V ATM_ENST00000278616 H996R ATM_ENST00000278616 I1681T ATM_ENST00000278616 I352N ATM_ENST00000278616 K1994R ATM_ENST00000278616 K24T ATM_ENST00000278616 L1826V ATM_ENST00000278616 L2004P ATM_ENST00000278616 L2417M ATM_ENST00000278616 L2417P ATM_ENST00000278616 L2427P ATM_ENST00000278616 M1040T ATM_ENST00000278616 M1916V ATM_ENST00000278616 N1739S ATM_ENST00000278616 N2875S ATM_ENST00000278616 P2699T ATM_ENST00000278616 Q1537L ATM_ENST00000278616 Q2414R ATM_ENST00000278616 Q2593R ATM_ENST00000278616 R13H ATM_ENST00000278616 R1466Q ATM_ENST00000278616 R248L ATM_ENST00000278616 R2832C ATM_ENST00000278616 R3008H ATM_ENST00000278616 R3047Q ATM_ENST00000278616 R337C ATM_ENST00000278616 R337H ATM_ENST00000278616 R717L ATM_ENST00000278616 R982C ATM_ENST00000278616 S2375G ATM_ENST00000278616 S2394P ATM_ENST00000278616 T1743A ATM_ENST00000278616 T915A ATM_ENST00000278616 T935A ATM_ENST00000278616 V245A ATM_ENST00000278616 V410A ATM_ENST00000278616 V734A ATM_ENST00000278616 Y2124C ATM_ENST00000278616 Y2404D ATM_ENST00000278616 Y2817C ATN1 D104N ATN1 Q498H ATN1 R884H ATOH7 E146D ATOH8 P137H ATOH8 T241R ATP10A A1042V ATP10A A1211T ATP10A A1250V ATP10A A1284T ATP10A A1401V ATP10A A804V ATP10A D1271E ATP10A D975N ATP10A E221K ATP10A E401K ATP10A E696D ATP10A F1300S ATP10A F572L ATP10A F954L ATP10A R590Q ATP10A R793W ATP10A R850C ATP10A R968H ATP10A R977K ATP10A V230M ATP10A Y390C ATP10B D1223G ATP10B F1136S ATP10B M371T ATP10B P1388H ATP10B Q1146H ATP10B Q894H ATP10B R1023Q ATP10B R835H ATP10B R850Q ATP10B R977H ATP10B T836I ATP10D A1123T ATP10D N304S ATP10D Q790H ATP10D R311H ATP10D R897C ATP10D S905F ATP10D Y1131H ATP11A A602T ATP11A G491S ATP11A N340D ATP11A R963H ATP11A T269M ATP11A T733M ATP11A Y233D ATP11A_ENST00000375630 A602T ATP11A_ENST00000375630 G491S ATP11A_ENST00000375630 N340D ATP11A_ENST00000375630 T269M ATP11A_ENST00000375630 T733M ATP11A_ENST00000375630 Y233D ATP11B D341Y ATP11B E659D ATP11B K532E ATP11B K532R ATP11B L348V ATP11B L462S ATP11C D637N ATP11C H747Y ATP11C K52E ATP11C Q931R ATP11C R284H ATP11C S570L ATP11C T157A ATP11C T157I ATP11C_ENST00000361648 H747Y ATP11C_ENST00000361648 K52E ATP11C_ENST00000361648 Q931R ATP11C_ENST00000361648 R284H ATP11C_ENST00000361648 S570L ATP11C_ENST00000361648 T157A ATP12A D587G ATP12A G561S ATP12A K460T ATP12A N250T ATP12A R662H ATP12A T194A ATP13A1 E924K ATP13A1 F209C ATP13A2 D715Y ATP13A2 P79S ATP13A3 A774S ATP13A3 A894T ATP13A3 F911L ATP13A3 I838M ATP13A3 R138C ATP13A3 T169M ATP13A4 E698D ATP13A4 L909M ATP13A5 A39T ATP13A5 H513L ATP13A5 L536P ATP13A5 P389H ATP13A5 Q988R ATP13A5 R27Q ATP13A5 V256M ATP13A5 V368I ATP13A5 V758M ATP1A1 A510T ATP1A1 R607Q ATP1A1 S40A ATP1A2 D744N ATP1A2 D750A ATP1A2 R443Q ATP1A2 R510H ATP1A3 I61F ATP1A3 K619R ATP1A3 R877W ATP1A3 R995C ATP1A4 E192G ATP1A4 F401L ATP1A4 F872L ATP1A4 G343W ATP1A4 G891C ATP1A4 R212W ATP1A4 R358H ATP1B1 T67I ATP1B2 R286C ATP1B4 A156T ATP1B4 T142M ATP2A1 A547V ATP2A1 V726M ATP2A2 R491K ATP2A2 S178L ATP2A2 V687I ATP2A3 D456N ATP2A3 L49P ATP2A3 R328H ATP2A3 T247M ATP2B1 M640I ATP2B1 R744Q ATP2B1 T30M ATP2B1_ENST00000359142 M640I ATP2B1_ENST00000359142 R744Q ATP2B1_ENST00000359142 T30M ATP2B2 A697T ATP2B2 D1169N ATP2B2 N13D ATP2B2 T1175M ATP2B2_ENST00000360273 A742T ATP2B2_ENST00000360273 T1220M ATP2B3 A128V ATP2B3 A32V ATP2B3 L535I ATP2B3 R1099M ATP2B3_ENST00000263519 A128V ATP2B3_ENST00000263519 A32V ATP2B3_ENST00000263519 L535I ATP2B3_ENST00000263519 R1099M ATP2B3_ENST00000263519 V1164M ATP2B3_ENST00000349466 A128V ATP2B3_ENST00000349466 A32V ATP2B3_ENST00000349466 L535I ATP2B3_ENST00000349466 R1099M ATP2B3_ENST00000349466 V1164M ATP2B3_ENST00000370186 A128V ATP2B3_ENST00000370186 A32V ATP2B3_ENST00000370186 L521I ATP2B3_ENST00000370186 R1085M ATP2B4 A854V ATP2B4 E1152G ATP2B4 E335G ATP2B4 I933V ATP2B4 P202S ATP2B4 R587C ATP2B4 R729W ATP2B4 T660I ATP2B4_ENST00000367218 A854V ATP2B4_ENST00000367218 E335G ATP2B4_ENST00000367218 I933V ATP2B4_ENST00000367218 P202S ATP2B4_ENST00000367218 R587C ATP2B4_ENST00000367218 R729W ATP2B4_ENST00000367218 T660I ATP2C1 A319G ATP2C1 E690K ATP2C1 E903K ATP2C1 T684I ATP2C2 E403K ATP2C2 G271R ATP2C2 Q900P ATP4A A120T ATP4A A76V ATP4A A969T ATP4A D21G ATP4A F317L ATP4A G379D ATP4A K487R ATP4A R668H ATP4A R703C ATP4A V971M ATP4A W901R ATP4B R19H ATP5A1 R322H ATP5A1 S106Y ATP5J2 W29R ATP5L2 T85M ATP5L2_ENST00000505920 T85M ATP6AP1 A185V ATP6AP1 G429E ATP6AP1 L288P ATP6AP1 R330C ATP6AP1L F45L ATP6AP1L P78Q ATP6V0A1 C191F ATP6V0A1 M355I ATP6V0A2 R578G ATP6V0A4 L345P ATP6V0A4 N74H ATP6V0A4 R191Q ATP6V0A4 R449C ATP6V0D1 F294L ATP6V1A L10P ATP6V1A Q494R ATP6V1B1 A276V ATP6V1B1 P116L ATP6V1B1 R124Q ATP6V1B1 S169Y ATP6V1B1 V493M ATP6V1B2 R494I ATP6V1C1 N324S ATP6V1C1 V183I ATP6V1C1 Y367C ATP6V1C2 R230Q ATP6V1C2_ENST00000272238 R230Q ATP6V1D E242G ATP6V1D E242K ATP6V1D K208N ATP6V1E1 G213R ATP6V1E2 R135C ATP6V1E2 R135H ATP6V1F A80T ATP6V1F N46T ATP6V1G1 E39A ATP6V1H E25D ATP6V1H_ENST00000359530 E25D ATP7A F1359S ATP7A G552E ATP7A I537T ATP7A L206Q ATP7A R1295W ATP7A R986Q ATP7A_ENST00000341514 F1359S ATP7A_ENST00000341514 G552E ATP7A_ENST00000341514 I537T ATP7A_ENST00000341514 L206Q ATP7A_ENST00000341514 R1295W ATP7A_ENST00000341514 R986Q ATP7B A753V ATP7B I945V ATP7B K164N ATP7B Q383H ATP7B R1151C ATP7B R1156H ATP7B R1411W ATP8A1 A1010V ATP8A1 A1016T ATP8A1 P1033L ATP8A1 Q468H ATP8A1 R14H ATP8A1 R292W ATP8A1 R581Q ATP8A1 R735W ATP8A1_ENST00000264449 A1001T ATP8A1_ENST00000264449 P1018L ATP8A1_ENST00000264449 Q453H ATP8A1_ENST00000264449 R14H ATP8A1_ENST00000264449 R566Q ATP8A1_ENST00000264449 R720W ATP8A2 A855T ATP8A2 D398N ATP8A2 E698K ATP8A2 F961L ATP8A2 I1003S ATP8A2 I126V ATP8A2 K151E ATP8A2 K345N ATP8A2 L264I ATP8A2 R216C ATP8A2 R588W ATP8A2 S260I ATP8A2 V506M ATP8B1 A482V ATP8B1 D379N ATP8B1 F124V ATP8B1 F673C ATP8B1 R628W ATP8B1 R882M ATP8B1 T317A ATP8B1 T456A ATP8B1 V1202M ATP8B1 Y924D ATP8B2 A179V ATP8B2 A212V ATP8B2 L460F ATP8B2 R1193H ATP8B2 R338H ATP8B2 R576W ATP8B2 S1194P ATP8B2 T427M ATP8B2_ENST00000368487 A146V ATP8B2_ENST00000368487 A179V ATP8B2_ENST00000368487 R305H ATP8B3 H410P ATP8B3 L185P ATP8B3 L334H ATP8B3 R562W ATP8B3 R566C ATP8B3 V1090I ATP8B4 A484T ATP8B4 A796S ATP8B4 L1173V ATP9A A592T ATP9A E489K ATP9A G394D ATP9A K1031E ATP9A N285Y ATP9A R201Q ATP9A R455H ATP9A R519Q ATP9A S184L ATP9A S244N ATP9A V800M ATP9B G271V ATP9B G678R ATP9B I1015V ATP9B R265Q ATP9B Y216H ATPIF1 E51D ATR A2002G ATR E2128D ATR E2438G ATR E2537G ATR G2618E ATR G481D ATR L1361V ATR Q1334E ATR R1025C ATR R1886Q ATR S756F ATRIP E573K ATRIP R709M ATRN A583T ATRN F174C ATRN I194M ATRN P29S ATRN R551Q ATRNL1 G630R ATRNL1 R814H ATRNL1 S1063N ATRNL1 S226P ATRNL1 S724G ATRNL1 T120A ATRNL1 T787K ATRX D1398G ATRX D1971Y ATRX E2277K ATRX I2026L ATRX K1867N ATRX K2359R ATRX K46T ATRX L192F ATRX Q2330R ATRX R2028P ATRX R2197C ATRX V1653A ATRX_ENST00000373344 A224V ATRX_ENST00000373344 D1398G ATRX_ENST00000373344 D1971Y ATRX_ENST00000373344 I2026L ATRX_ENST00000373344 K1867N ATRX_ENST00000373344 K2359R ATRX_ENST00000373344 K46T ATRX_ENST00000373344 Q2330R ATRX_ENST00000373344 R2197C ATRX_ENST00000373344 V1653A ATRX_ENST00000373344 W222C ATXN1 A505V ATXN1 E357K ATXN1 H211Q ATXN1 K307R ATXN1 Q210H ATXN1 Q212H ATXN1 Q215H ATXN10 L307P ATXN10 T303K ATXN1L G433D ATXN1L T560M ATXN2 A1199V ATXN2 H1062R ATXN2 H1229L ATXN2L D240N ATXN2L P1020S ATXN2L R301Q ATXN2L_ENST00000395547 D240N ATXN2L_ENST00000395547 P1020S ATXN2L_ENST00000395547 P1071L ATXN2L_ENST00000395547 R301Q ATXN3L E312G ATXN3L E312K ATXN3L I181T ATXN3L R237H ATXN3L T146I ATXN7 A214T ATXN7 G778A ATXN7 N881S ATXN7 S803F ATXN7L1_ENST00000419735 K779R ATXN7L2 A693V ATXN7L2 A707T ATXN7L2 H103R ATXN7L2 P219S ATXN7L2 R623Q ATXN7L2 S602L ATXN7_ENST00000398590 A214T ATXN7_ENST00000398590 G778A ATXN7_ENST00000398590 N881S ATXN7_ENST00000398590 P942Q ATXN7_ENST00000398590 S803F AUH F238L AUH S201F AUP1 H48R AURKA S155G AURKAIP1 R154W AURKB_ENST00000316199 H133Y AURKC E136G AURKC G18E AURKC L40I AURKC R3H AURKC S227P AURKC_ENST00000302804 E170G AURKC_ENST00000302804 L74I AURKC_ENST00000302804 R37H AURKC_ENST00000302804 S261P AUTS2 E347G AUTS2 E894G AUTS2 P417S AUTS2 R1230C AUTS2 R199W AUTS2 V769I AVEN L145I AVEN S132I AVIL C621Y AVIL K340N AVL9 M596V AVP L13R AVPI1 A41G AVPI1 R130H AVPR1A A164T AVPR1A A63T AVPR1A Q311R AVPR1B A109V AVPR1B A188E AVPR1B R351H AVPR1B T129M AVPR2 A63T AVPR2 R252Q AWAT1 G261A AWAT1 L348Q AWAT1 R280H AWAT1_ENST00000374521 L268Q AWAT1_ENST00000374521 R200H AXDND1 A915D AXDND1 E930D AXDND1 E994Q AXDND1 R414I AXIN1 A740T AXIN1 A76T AXIN1 A76V AXIN1 G233D AXIN1 G572R AXIN1 G802S AXIN1 I149T AXIN1 K161T AXIN1 P218S AXIN1 P23S AXIN1 P661L AXIN1 P693S AXIN1 R395C AXIN1 S43N AXIN1 S75G AXIN1 S77F AXIN1 T213I AXIN1 T649P AXIN1 T79I AXIN1 Y42C AXIN2 A758V AXIN2 D434E AXIN2 F805L AXIN2 M120I AXIN2 P65L AXIN2 R714W AXIN2 S296N AXL A273V AXL G46V AXL G508S AXL Q293K AXL R295W AXL V289M AZGP1 A46T AZGP1 D55Y AZI1 A271D AZI1 A510V AZI1 L401P AZI1 R305Q AZI1 R32H AZI1 R374L AZI1 R886H AZI1 T498I AZI1 V161M AZI1_ENST00000450824 A271D AZI1_ENST00000450824 A510V AZI1_ENST00000450824 L401P AZI1_ENST00000450824 R305Q AZI1_ENST00000450824 R32H AZI1_ENST00000450824 R374L AZI1_ENST00000450824 R922H AZI1_ENST00000450824 T498I AZI1_ENST00000450824 V161M AZU1 R181H AZU1 V62M B2M F76C B2M I66N B2M M1I B2M M1K B2M M1L B2M M1R B2M M1T B2M M1V B2M R3C B3GALNT1 A130T B3GALNT1 R145Q B3GALNT1 S106Y B3GALNT2 D357E B3GALNT2 N203S B3GALT1 S237L B3GALT2 A408T B3GALT2 R284Q B3GALT2 R336H B3GALT4 R233H B3GALT4 V180A B3GALT5 F160L B3GALT5 M85I B3GALT5 R115Q B3GAT1 P247T B3GAT1 R125L B3GAT1 V11I B3GAT1 V89L B3GAT3 A257V B3GAT3 R45L B3GAT3 V8A B3GNT2 H205Y B3GNT3 V235M B3GNT4 A56T B3GNT4 L242P B3GNT4 N227D B3GNT6 G282S B3GNT6 P347S B3GNT6 R351C B3GNT9 N238K B3GNT9 P159H B3GNT9 V135M B3GNTL1 P90T B3GNTL1 S114L B4GALNT1 A30T B4GALNT1 A498T B4GALNT1 R228Q B4GALNT1 R239W B4GALNT1 R5C B4GALNT1 S314I B4GALNT2 G383D B4GALNT2 L340F B4GALNT2 R303C B4GALNT2 R494Q B4GALNT2 V224I B4GALNT3 G553D B4GALNT3 M906V B4GALNT3 R121H B4GALNT4 A238T B4GALNT4 R114W B4GALNT4 R756H B4GALNT4 R815C B4GALNT4 R850C B4GALNT4 R878H B4GALNT4 R881W B4GALNT4 V870L B4GALT2 F254L B4GALT3 R3Q B4GALT3 S49Y B4GALT4 D154N B4GALT4 G218D B4GALT5 H176Y B4GALT6 E125K B4GALT6 I60V B4GALT6 S124R B4GALT7 A273T B7 E27G B9D2 R75G BAAT L406I BAAT R297H BACE1 G395V BACE1 T164I BACE2 A300V BACH1 L87F BACH1 N342H BACH1 N529S BACH1 R142I BACH1 R538Q BACH2 D38N BACH2 E834K BACH2 F253C BACH2 G594R BACH2 P320S BACH2 R31Q BACH2_ENST00000257749 E834K BACH2_ENST00000257749 F253C BACH2_ENST00000257749 R31Q BAD P101S BAG1 A141V BAG1 D125G BAG1 D125N BAG3 K534T BAG3 R261W BAG3 Y205C BAG4 L411P BAG4 P315L BAG4 Y321H BAG5 D439N BAG6 A629V BAG6 P90S BAG6 S417L BAHCC1 A1400T BAHCC1 A2542V BAHCC1 G528D BAHCC1 K1729N BAHCC1 P1963L BAHCC1 R1684H BAHCC1 R2430W BAHCC1 R319C BAHCC1 V1911I BAHD1 A702T BAHD1 R172W BAHD1 R533H BAI1 A596V BAI1 D1173N BAI1 E671D BAI1 F553L BAI1 G1321S BAI1 L108P BAI1 N607K BAI1 P75L BAI1 R490H BAI1 T1124M BAI1 T1542M BAI1 T950M BAI1 V405M BAI2 G1055A BAI2 P1425L BAI2 P1556S BAI2 R847C BAI2 R965C BAI2 T507M BAI3 A633V BAI3 D1122Y BAI3 D755G BAI3 D755N BAI3 E621G BAI3 F611L BAI3 F73I BAI3 G1027R BAI3 I108V BAI3 I805V BAI3 K1046R BAI3 R1197Q BAI3 R1452W BAI3 S408L BAI3 T1073M BAI3 T369P BAI3 T428I BAI3 V995A BAI3 W661L BAI3 Y1343C BAIAP2 L393I BAIAP2L1 G488R BAIAP2L1 N152H BAIAP2L1 T458M BAIAP2L2 N412K BAIAP2L2 N412T BAIAP2L2 R228H BAIAP2L2 V169M BAIAP2L2 V93M BAIAP2_ENST00000321300 L393I BAIAP3 A1185V BAIAP3 D577N BAMBI G108W BANK1 E46K BANK1 F580I BANK1 R730M BANP A407T BANP V198A BANP_ENST00000393207 A457T BANP_ENST00000393207 V229A BAP1 A95D BAP1 C91W BAP1 F170V BAP1 F81L BAP1 G13V BAP1 H169Q BAP1 K658R BAP1 M1I BAP1 N78S BAP1 R227C BAP1 R227H BAP1 S172R BAP1 S63C BAP1 S63P BARD1 H324N BARD1 P24S BARD1 S162A BARD1_ENST00000260947 H324N BARD1_ENST00000260947 P24S BARHL1 D10N BARHL1 D169G BARHL2 A238T BARHL2 E187K BARX1 R124H BASP1 E34G BAT2D1 E364K BAT2D1 F2032S BAT2D1 R2825Q BAT2D1 R55H BAT2D1 S880P BAT2D1_ENST00000392078 E364K BAT2D1_ENST00000392078 F2032S BAT2D1_ENST00000392078 R2825Q BAT2D1_ENST00000392078 R55H BAT2D1_ENST00000392078 S880P BATF R37C BATF S24F BAX L113P BAX L125M BAX_ENST00000345358 L113P BAX_ENST00000345358 L125M BAZ1A K575N BAZ1A K940T BAZ1A R1511H BAZ1A S1119Y BAZ1B K799E BAZ1B L1034V BAZ1B R1238H BAZ1B R1452M BAZ1B R199Q BAZ1B R899H BAZ1B V1167M BAZ2A P158T BAZ2A R1479Q BAZ2A R1528M BAZ2A R1829W BAZ2A_ENST00000379441 P122T BAZ2A_ENST00000379441 R1443Q BAZ2A_ENST00000379441 R1492M BAZ2A_ENST00000379441 R1793W BAZ2A_ENST00000551812 P122T BAZ2A_ENST00000551812 R1443Q BAZ2A_ENST00000551812 R1492M BAZ2A_ENST00000551812 R1793W BAZ2B A1743T BAZ2B A293S BAZ2B G563W BAZ2B G764W BAZ2B R1288C BAZ2B R1384C BAZ2B R1938Q BAZ2B S247R BAZ2B S604Y BAZ2B T577A BBOX1 A100V BBOX1 F176V BBS10 N543S BBS12 D687G BBS12 F544L BBS12 R368C BBS12 R431Q BBS2 G375D BBS2 N671S BBS2 R272Q BBS2 R315W BBS4 A504V BBS4 N375H BBS5 N112H BBS5 R312C BBS7 I649V BBS7 R496I BBS9 A135V BBS9 A257T BBS9 I451L BBS9 R173I BBS9_ENST00000242067 I451L BBS9_ENST00000242067 R173I BBX E849K BBX F409S BBX V17I BCAM A239T BCAN G51S BCAN R599W BCAN S704P BCAN T430M BCAN T714A BCAN_ENST00000361588 G51S BCAN_ENST00000361588 R599W BCAN_ENST00000361588 T430M BCAP29 K261R BCAP29 K34N BCAP29 L64I BCAP29 R119C BCAR1 G276C BCAR1 H303R BCAR1 R566W BCAR1 S407T BCAR1 V511I BCAR1_ENST00000393420 G276C BCAR1_ENST00000393420 H303R BCAR1_ENST00000393420 R584W BCAR1_ENST00000393420 V529I BCAR1_ENST00000418647 G322C BCAR1_ENST00000418647 H349R BCAR1_ENST00000418647 R612W BCAR1_ENST00000418647 V557I BCAR3 L684P BCAR3 R800I BCAR3 R80W BCAS1 A73V BCAS1 F556L BCAS1 T153A BCAS2 N139S BCAS3 D779E BCAS3 P521L BCAS3 R195W BCAS4 L136F BCAS4_ENST00000358791 L136F BCAS4_ENST00000371608 L136F BCAS4_ENST00000371608 R201W BCAT1 G14R BCAT1 I141T BCAT1 K107T BCAT1 R364H BCAT2 W75L BCCIP D36N BCCIP R151C BCCIP V162A BCCIP_ENST00000278100 D36N BCCIP_ENST00000278100 R151C BCCIP_ENST00000278100 V162A BCDIN3D S77P BCHE K208T BCHE L244F BCHE L478M BCHE M465I BCHE M465V BCHE S100I BCHE V232G BCHE V322M BCKDHA A246T BCKDHA R124Q BCKDHA R200H BCKDHA Y345C BCKDHB A5T BCKDK_ENST00000394951 A358T BCL11A A189T BCL11A A532V BCL11A F17L BCL11A G514S BCL11A P305S BCL11A P353S BCL11A R740C BCL11A S142F BCL11A S390N BCL11A S554F BCL11A V811M BCL11A_ENST00000356842 A532V BCL11A_ENST00000356842 F17L BCL11A_ENST00000356842 P353S BCL11A_ENST00000356842 R740C BCL11A_ENST00000359629 F17L BCL11B D857N BCL11B E535D BCL11B G415D BCL11B G83S BCL11B P268T BCL11B R472H BCL11B S358A BCL11B S468N BCL11B T845M BCL2 A131V BCL2 A2T BCL2 A60V BCL2 F104L BCL2 F49L BCL2 G47D BCL2 H20Q BCL2 K17N BCL2 P46A BCL2 P59L BCL2 R146K BCL2 S87N BCL2 T7I BCL2A1 A123V BCL2A1_ENST00000335661 A123V BCL2L10 L188M BCL2L10 W163C BCL2L11 P21L BCL2L11 R153P BCL2L11 R91Q BCL2L11_ENST00000337565 P21L BCL2L13 S99L BCL2L14 G261R BCL2_ENST00000398117 A131V BCL2_ENST00000398117 A60V BCL2_ENST00000398117 F49L BCL2_ENST00000398117 G47D BCL2_ENST00000398117 H20Q BCL2_ENST00000398117 P46A BCL2_ENST00000398117 P59S BCL2_ENST00000398117 S87N BCL2_ENST00000398117 T7I BCL3 C115Y BCL3 R264C BCL6 A410T BCL6 A587T BCL6 C354Y BCL6 D338G BCL6 R550H BCL6 R594Q BCL6 S359F BCL6 Y293F BCL6B_ENST00000293805 A369S BCL7A R44Q BCL7A T52M BCL7B D179Y BCL7B S62L BCL7B T52A BCL9L A385T BCL9L D261N BCL9L R419Q BCL9L R680W BCL9L_ENST00000392849 A385T BCL9L_ENST00000392849 D261N BCL9L_ENST00000392849 G980C BCL9L_ENST00000392849 R419Q BCL9_ENST00000234739 H869Y BCL9_ENST00000234739 P1201T BCLAF1 R429W BCLAF1_ENST00000531224 A306T BCLAF1_ENST00000531224 K483N BCLAF1_ENST00000531224 R39H BCLAF1_ENST00000531224 R429W BCLAF1_ENST00000531224 R69Q BCLAF1_ENST00000531224 R94I BCLAF1_ENST00000531224 S19F BCLAF1_ENST00000531224 S422R BCMO1 A303T BCMO1 I201T BCMO1 N374H BCO2 R139Q BCO2 R332W BCO2 R487Q BCOR E946D BCOR H1333R BCOR K1326R BCOR N784S BCOR R118I BCOR T329I BCOR V806I BCORL1 A1434T BCORL1 A1486V BCORL1 G832D BCORL1 G832S BCORL1 H993Y BCORL1 M1597T BCORL1 Q1191K BCORL1 R1224S BCORL1 T1111M BCORL1 T345M BCR E1270D BCR R364Q BCR S429L BCS1L N267T BCS1L V205I BDH1 A257T BDH1 E118K BDH2 T208M BDKRB1 F86V BDKRB1 N114I BDKRB1 R232W BDKRB2 R196Q BDKRB2 T128M BDNF E72K BDNF T157M BDNF T99M BDNF_ENST00000438929 E146K BDNF_ENST00000438929 T173M BDNF_ENST00000438929 T231M BDP1 E82D BDP1 G526D BDP1 R1830M BDP1 S33T BDP1 T1816A BDP1 V9G BEGAIN V178I BEND2 P341L BEND2 R264L BEND2 R453H BEND2 V49A BEND3 A161T BEND3 D507N BEND3 G183R BEND3 I701T BEND3 R644Q BEND3 R776W BEND4 G492S BEND4 R451C BEND4 S406Y BEND5 P97L BEND5 R100L BEND5 R29C BEND5_ENST00000371833 L97R BEND5_ENST00000371833 P266L BEND5_ENST00000371833 R269L BEND5_ENST00000371833 R29Q BEND7 A158V BEND7 K172T BEND7 R261I BEND7_ENST00000378605 A171V BEND7_ENST00000378605 K185T BEND7_ENST00000378605 R274I BEST1 D228G BEST1 V275A BEST1_ENST00000449131 D168G BEST1_ENST00000449131 V215A BEST2 E56K BEST3 R175Q BEST3 R175W BEST3_ENST00000330891 R388Q BEST3_ENST00000330891 R388W BET3L F103L BET3L_ENST00000368602 F103L BEX1 R56T BEX1_ENST00000372728 R56T BEX5 E74D BEX5 E74G BFAR Q416R BFAR S165G BFSP1 A220S BFSP1 A477V BFSP1 D433N BFSP1 R469Q BFSP2 D270N BFSP2 P263L BFSP2 R154Q BFSP2 Y210C BHLHA15 R70L BHLHA15 Y178C BHLHB9 K47N BHLHE22 A297V BHLHE22 G224S BHMT2 A244V BHMT2 M222I BICC1 A640V BICC1 E59K BICC1 G151D BICC1 K107T BICC1 K744N BICD1 A72V BICD1 M480V BICD1 P931L BICD1 R657Q BICD1 R657W BICD2 A814T BICD2 E220K BICD2 L257M BICD2 R162H BICD2 R398Q BID_ENST00000317361 A137T BID_ENST00000317361 K203N BIN1 D537Y BIN1 K542M BIN1 M219I BIN1 Q573H BIN1 V525L BIN1_ENST00000259238 D441Y BIN1_ENST00000259238 K446M BIN1_ENST00000259238 Q477H BIN1_ENST00000259238 V429L BIN2 D522N BIN2 F220L BIRC2 D79Y BIRC2 E422D BIRC2 E578D BIRC2 F583Y BIRC2 M575V BIRC2 W316R BIRC3 S123L BIRC3 S123P BIRC5 D70Y BIRC5_ENST00000301633 D70Y BIRC5_ENST00000374948 D70Y BIRC6 I667N BIRC6 K1272N BIRC6 L3687R BIRC6 M3008T BIRC6 N2010Y BIRC6 R1030H BIRC6 R3284H BIRC6 T374R BIRC6 T3864A BIRC6 Y1928F BIRC6_ENST00000421745 I667N BIRC6_ENST00000421745 K1272N BIRC6_ENST00000421745 M3008T BIRC6_ENST00000421745 N2010Y BIRC6_ENST00000421745 R1030H BIRC6_ENST00000421745 R3284H BIRC6_ENST00000421745 T2674S BIRC6_ENST00000421745 T374R BIRC6_ENST00000421745 T3864A BIRC6_ENST00000421745 Y1928F BIRC7 A71T BIRC8 R120Q BIVM R424I BLID S104T BLK A71T BLK L138F BLK S341L BLM H805Y BLM I1279V BLM P30L BLM T830M BLM Y519C BLMH S198G BLNK N185H BLNK P110T BLOC1S1 M105V BLOC1S1_ENST00000548925 M133V BLOC1S2 D82Y BLOC1S2 T38N BLVRA S44L BLVRA V141A BLZF1 A296S BLZF1 R159C BMF E8D BMI1 D119V BMI1 Q140K BMI1 S274N BMI1 T63A BMP1 K814T BMP1 R181Q BMP1 R508C BMP10 D403E BMP10 K174R BMP10 K91T BMP10 P117L BMP10 V255M BMP10 V418I BMP15 L293I BMP15 R8I BMP1_ENST00000306349 R181Q BMP2 F144V BMP2K V68L BMP2K V68M BMP2KL P251S BMP2K_ENST00000335016 D359G BMP2K_ENST00000335016 Q460H BMP2K_ENST00000335016 R1092C BMP2K_ENST00000335016 S580L BMP2K_ENST00000335016 V68L BMP2K_ENST00000335016 V68M BMP2K_ENST00000502871 D359G BMP2K_ENST00000502871 Q460H BMP2K_ENST00000502871 V68L BMP2K_ENST00000502871 V68M BMP3 K310T BMP3 R344W BMP3 S120L BMP4 R280W BMP4 R286Q BMP4 R68P BMP5 F68S BMP5 H454R BMP5 K284N BMP5 L424V BMP5 R181Q BMP5 R49W BMP6 A343D BMP6 A451T BMP6 H235R BMP6 P476L BMP6 R231H BMP6 R28Q BMP6 S85L BMP7 R69H BMP7 T390M BMP8A C334R BMP8B P280L BMPER A451V BMPER A578T BMPER E427K BMPER G362S BMPER L252M BMPER P640L BMPER R439H BMPER S184N BMPER T385M BMPR1A F58Y BMPR1A G434D BMPR1A I85L BMPR1A K102N BMPR1A K333Q BMPR1A R486L BMPR1A R486W BMPR1A_ENST00000224764 G434D BMPR1A_ENST00000224764 I85L BMPR1A_ENST00000224764 K102N BMPR1A_ENST00000224764 K333Q BMPR1A_ENST00000224764 R486L BMPR1A_ENST00000224764 R486W BMPR1B E154D BMPR1B G63W BMPR1B_ENST00000515059 E154D BMPR2 A35V BMPR2 E195K BMPR2 G311R BMPR2 H331Y BMPR2 L884P BMPR2 R179C BMPR2 R179H BMS1 M1046I BMS1 R1062Q BMS1 R1200H BMS1 R75Q BMS1 R887C BMS1 R939Q BMS1 T248A BMX R414K BMX R670W BMX R99Q BNC1 L779F BNC1 R107C BNC1 R114Q BNC1 R404H BNC1 R451M BNC1 R611C BNC1 V379I BNC2 A445V BNC2 E313K BNC2 F442L BNC2 F778C BNC2 R291H BNC2 R512W BNC2 R52T BNC2 S575R BNIP1 R55C BNIPL A184V BNIPL_ENST00000368931 A266V BOC A472T BOC D302N BOC I636L BOC P840L BOC R629C BOC V403I BOC V624M BOD1L A1619D BOD1L A2087T BOD1L A2425V BOD1L E231V BOD1L G1895E BOD1L K1650R BOD1L M1120I BOD1L M2584V BOD1L P1537S BOD1L Q1210R BOD1L R1141H BOD1L R2970C BOD1L R3024C BOD1L S1668N BOD1L S182F BOD1L S2167R BOD1L S2260L BOD1L T1647A BOD1L T2111A BOD1L T2245I BOLA1 A92V BOLA1 I36T BOLL L18S BOLL S166I BOLL S167P BOLL V78I BOLL_ENST00000321801 S178I BOLL_ENST00000321801 S179P BOLL_ENST00000321801 V90I BPGM G180S BPGM P153S BPI E3D BPIL1 A20V BPIL1 A255T BPIL1 F242C BPIL1 R103C BPIL2 F488V BPIL2 T3A BPIL3 F102L BPIL3 N151T BPIL3 N435S BPIL3 T16M BPIL3 Y183C BPIL3 Y366H BPNT1 G143E BPNT1 R52Q BPTF G543S BPTF K1250R BPTF K1365N BPTF K2635N BPTF R2058C BPTF R2523H BPTF R2878L BPTF S793L BPTF_ENST00000335221 G543S BPTF_ENST00000335221 K1376R BPTF_ENST00000335221 K1491N BPTF_ENST00000335221 K2618N BPTF_ENST00000335221 R2184C BPTF_ENST00000335221 R2861L BPTF_ENST00000335221 S919L BRAF A305V BRAF A598V BRAF A718V BRAF D587E BRAF D594E BRAF D594G BRAF D594K BRAF D594N BRAF D594V BRAF E586K BRAF F595L BRAF F595S BRAF G464E BRAF G464R BRAF G464V BRAF G466A BRAF G466E BRAF G466R BRAF G466V BRAF G469A BRAF G469E BRAF G469R BRAF G469S BRAF G469V BRAF G593D BRAF G596D BRAF G596R BRAF G606E BRAF G615R BRAF H608R BRAF I326T BRAF I582M BRAF I592M BRAF I592V BRAF I617T BRAF K475R BRAF K601E BRAF K601N BRAF K601Q BRAF K601R BRAF L584F BRAF L584P BRAF L597Q BRAF L597R BRAF L597S BRAF L597V BRAF L618S BRAF L618W BRAF M53T BRAF N581I BRAF N581S BRAF P453T BRAF Q609R BRAF Q636R BRAF R444L BRAF R444W BRAF R462I BRAF R462K BRAF R682Q BRAF S467L BRAF S467P BRAF S605F BRAF S605G BRAF S605N BRAF S614P BRAF S616F BRAF S616P BRAF S637P BRAF T589A BRAF T599I BRAF V471F BRAF V600A BRAF V600D BRAF V600E BRAF V600G BRAF V600K BRAF V600L BRAF V600M BRAF V600Q BRAF V600R BRAF W604G BRAF W619R BRAF Y472S BRAP A242D BRCA1 G1384W BRCA1 K1254T BRCA1 L30F BRCA1 S1009P BRCA1 S114P BRCA2 E187D BRCA2 E764K BRCA2 F701C BRCA2 G1840V BRCA2 I1017S BRCA2 I1017T BRCA2 K1638R BRCA2 K956T BRCA2 L1457S BRCA2 L951I BRCA2 P920S BRCA2 R18H BRCA2 R2678G BRCA2 R2787L BRCA2 R2888H BRCA2 R2896C BRCA2 S1682G BRCA2 S2243C BRCA2 S3332Y BRCA2 T1354A BRCA2 T1354M BRCA2 T1887M BRCA2 T630I BRCA2_ENST00000544455 E187D BRCA2_ENST00000544455 E764K BRCA2_ENST00000544455 F701C BRCA2_ENST00000544455 G1840V BRCA2_ENST00000544455 I1017T BRCA2_ENST00000544455 K1638R BRCA2_ENST00000544455 K956T BRCA2_ENST00000544455 L1457S BRCA2_ENST00000544455 L951I BRCA2_ENST00000544455 P920S BRCA2_ENST00000544455 R2678G BRCA2_ENST00000544455 R2787L BRCA2_ENST00000544455 R2888H BRCA2_ENST00000544455 R2896C BRCA2_ENST00000544455 S1682G BRCA2_ENST00000544455 S3332Y BRCA2_ENST00000544455 T1354A BRCA2_ENST00000544455 T1887M BRCC3 L291V BRCC3 P282S BRD1 A215T BRD1 A689V BRD1 E160K BRD1 E520D BRD1 R259H BRD1 R668H BRD1 R737Q BRD1 R802Q BRD1 T885M BRD1_ENST00000342989 A284V BRD1_ENST00000342989 E115D BRD1_ENST00000342989 R263H BRD1_ENST00000342989 R332Q BRD1_ENST00000342989 R528Q BRD2_ENST00000395289 D160Y BRD3_ENST00000303407 A373T BRD3_ENST00000303407 G649R BRD3_ENST00000303407 R586W BRD4 C125R BRD4 C125Y BRD4 N560K BRD4 P56H BRD4 R669C BRD4 T195M BRD4_ENST00000263377 C125R BRD4_ENST00000263377 C125Y BRD4_ENST00000263377 L1361I BRD4_ENST00000263377 N560K BRD4_ENST00000263377 P56H BRD4_ENST00000263377 R1060C BRD4_ENST00000263377 R669C BRD4_ENST00000263377 T195M BRD7 Q133R BRD7 R96W BRD8 D834Y BRD8 E219A BRD8 I364V BRD8 Q61H BRD8 R54H BRD8 R98W BRD8 S916R BRD8 V40I BRD8_ENST00000230901 D907Y BRD8_ENST00000230901 E292A BRD8_ENST00000230901 I437V BRD8_ENST00000230901 Q61H BRD8_ENST00000230901 R54H BRD8_ENST00000230901 R98W BRD8_ENST00000230901 V40I BRD9 A199T BRD9 R449W BRD9_ENST00000467963 A295T BRD9_ENST00000467963 D109G BRDT A89V BRDT D866N BRDT K286N BRDT M346L BRDT Q152H BRDT R841W BRDT V312I BRE D354N BRE F207V BRE I312V BRE R23Q BRE S182G BRE V21M BRE_ENST00000342045 D354N BRE_ENST00000342045 F207V BRE_ENST00000342045 I312V BRE_ENST00000342045 R23Q BRE_ENST00000342045 S182G BRE_ENST00000342045 V21M BRE_ENST00000379632 F207V BRE_ENST00000379632 I312V BRE_ENST00000379632 R23Q BRE_ENST00000379632 S182G BRE_ENST00000379632 V21M BRF1 I321L BRF1_ENST00000440513 I206L BRF2 A108V BRF2 A93T BRF2 D30N BRI3 F96Y BRI3BP A123T BRI3BP G14V BRI3BP R240L BRIP1 A453T BRIP1 A745T BRIP1 E671Q BRIP1 G1024R BRIP1 G290S BRIP1 K479T BRIP1 L358P BRIP1 P931S BRIP1 S624L BRIP1_ENST00000259008 A453T BRIP1_ENST00000259008 A745T BRIP1_ENST00000259008 E671Q BRIP1_ENST00000259008 G1024R BRIP1_ENST00000259008 G290S BRIP1_ENST00000259008 K479T BRIP1_ENST00000259008 L358P BRIP1_ENST00000259008 P931S BRIX1 I186L BRMS1 I121V BRMS1L K98N BRMS1_ENST00000425825 I121V BRP44 L75V BRP44L S108Y BRPF1 R66C BRPF1 R946C BRPF1 S460T BRPF1 T441S BRPF1 V1065M BRPF1 V987A BRPF3 A763T BRPF3 R6W BRPF3 R970H BRPF3 V1109I BRS3 A160V BRSK1 R303W BRSK1 S399F BRSK1 V433I BRSK1 V611M BRSK1 V656I BRSK1_ENST00000309383 R303W BRSK1_ENST00000309383 S399F BRSK1_ENST00000309383 V433I BRSK1_ENST00000309383 V611M BRSK1_ENST00000309383 V656I BRSK2_ENST00000308219 A128V BRSK2_ENST00000308219 R364H BRSK2_ENST00000308219 S455G BRWD1 E1647G BRWD1 K1749T BRWD1 L308F BRWD1 R1011Q BRWD1 R1074C BRWD1 S696N BRWD1 W395C BRWD1_ENST00000333229 E1647G BRWD1_ENST00000333229 K1749T BRWD1_ENST00000333229 L308F BRWD1_ENST00000333229 R1011Q BRWD1_ENST00000333229 R1074C BRWD1_ENST00000333229 S696N BRWD3 C112R BRWD3 R787C BRWD3 S1500L BRWD3 S1643C BRWD3 T362M BSDC1 L179F BSDC1 P125L BSDC1 Q80H BSDC1_ENST00000446293 L179F BSG R317C BSG R380S BSG_ENST00000346916 R137C BSG_ENST00000346916 R200S BSN A673V BSN D1685N BSN D805N BSN K3342R BSN K650E BSN L3785I BSN P1243S BSN P253L BSN R1023C BSN R1408C BSN R2942Q BSN R2959H BSN R3664W BSN R3676C BSN S3244N BSND A192T BSND F11L BSPRY E182A BST2 T4S BST2 V35M BSX R133C BTAF1 D1625N BTAF1 G1294V BTAF1 K1239N BTAF1 N210D BTAF1 S1319P BTBD1 G365D BTBD1 R326S BTBD1 R350Q BTBD10 K265T BTBD11 A185T BTBD11 A561V BTBD11 A833T BTBD11 D571G BTBD11 E427K BTBD11 E684K BTBD11 F1063L BTBD11 R434H BTBD11 R710C BTBD11 R831Q BTBD11 V613G BTBD11 V635A BTBD16 E216K BTBD16 R342W BTBD16 S394L BTBD17 D440N BTBD17 E37D BTBD17 F231L BTBD18 G624E BTBD18_ENST00000422652 G624E BTBD2 A252T BTBD2 R376H BTBD3 A151V BTBD3 G512R BTBD3 L175H BTBD3 R430Q BTBD3 T218A BTBD7 F973C BTBD7 S436L BTBD7 T667M BTBD8 K136R BTBD8 R216C BTBD9 C94R BTBD9 D133Y BTBD9 S252F BTBD9_ENST00000403056 C162R BTBD9_ENST00000403056 D201Y BTBD9_ENST00000403056 D37N BTBD9_ENST00000403056 S320F BTD A101T BTD F16Y BTD P133L BTD R209C BTF3L4 L43Q BTG1 Q36H BTG3 F65C BTG3 K90N BTG4_ENST00000356018 R221I BTK A508T BTK R288Q BTK R332H BTN1A1 A103T BTN1A1 A302T BTN1A1 A395V BTN2A1 A136T BTN2A1 L441P BTN2A1 Q309K BTN2A1_ENST00000265424 A136T BTN2A1_ENST00000265424 L427P BTN2A1_ENST00000265424 Q295K BTN2A1_ENST00000265424 Q498K BTN2A2 K294N BTN2A2 R143C BTN2A2_ENST00000432533 K200N BTN2A2_ENST00000432533 R143C BTN2A3 P3S BTN3A1 R442Q BTN3A3 E366G BTNL2 V224I BTNL3 A283S BTNL3 A448V BTNL3 G113R BTNL8 V21G BTNL8_ENST00000340184 V21G BTNL9 A112S BTNL9 S469P BTRC A47T BTRC M232V BTRC P66S BUB1 D937G BUB1 K566N BUB1 N534D BUB1 N534S BUB1 R244C BUB1 T461A BUB1B F996L BUB1B L151R BUB1B S588G BUB1B Y81C BUB3 A280T BUB3 C62G BUB3 L30M BUB3 R202L BUB3_ENST00000368865 C62G BUB3_ENST00000368865 L30M BUB3_ENST00000368865 R202L BUD13 H157R BUD13 P327L BUD13 R477C BVES L261I BZRAP1 A1140P BZRAP1 A601S BZRAP1 E1269K BZRAP1 R561Q BZRAP1 V1627I BZRAP1 W1555R BZRAP1_ENST00000355701 A1140P BZRAP1_ENST00000355701 A601S BZRAP1_ENST00000355701 E1269K BZRAP1_ENST00000355701 R136C BZRAP1_ENST00000355701 R561Q BZRAP1_ENST00000355701 V1627I BZRAP1_ENST00000355701 W1555R C10orf10 R4W C10orf105 P61L C10orf105_ENST00000441508 P61L C10orf107 F11V C10orf113 A5T C10orf113_ENST00000377118 A5T C10orf114 D122G C10orf118 E88D C10orf118 R685C C10orf12 D199E C10orf12 E487K C10orf12 N971I C10orf12 R207C C10orf12 V1039I C10orf122 R160I C10orf122 R76W C10orf122_ENST00000368821 R160I C10orf122_ENST00000368821 R76W C10orf128 N94T C10orf129 S62R C10orf129_ENST00000341686 R113P C10orf129_ENST00000341686 S217R C10orf137 A837T C10orf137 A880V C10orf137 E29K C10orf137 N45S C10orf137 R272W C10orf137 V143M C10orf140 D676N C10orf140 E444G C10orf140 F173V C10orf140 G429E C10orf140_ENST00000449193 D676N C10orf140_ENST00000449193 E444G C10orf140_ENST00000449193 F173V C10orf140_ENST00000449193 G429E C10orf18 G1024D C10orf18 R1579I C10orf18 R2278C C10orf18 S1225L C10orf2 E153K C10orf26 R290W C10orf27 A8D C10orf28 D154N C10orf28 G120E C10orf28 S54R C10orf35 P88L C10orf35 R17Q C10orf46 F252C C10orf53 G137C C10orf54 H126R C10orf55 S38L C10orf55_ENST00000409178 S38L C10orf6 R812Q C10orf6 S841G C10orf62 A149V C10orf62 R139W C10orf67 H146N C10orf67 I95K C10orf68 K12T C10orf68 L61I C10orf71_ENST00000323868 A426V C10orf71_ENST00000374144 A426V C10orf71_ENST00000374144 L236F C10orf71_ENST00000374144 P1394L C10orf71_ENST00000374144 S1314Y C10orf76 G245R C10orf76 G577D C10orf76 Q267K C10orf81 P277H C10orf81 R219Q C10orf81 V172I C10orf81_ENST00000369312 P189H C10orf81_ENST00000369312 R131Q C10orf90 A84T C10orf90 R619C C10orf93 A277V C11orf16 P286L C11orf2 D642Y C11orf30 F263L C11orf30 F263S C11orf30 K222R C11orf30 Q784H C11orf30 R1111C C11orf40 L63V C11orf41 P1042L C11orf41_ENST00000321505 R1501C C11orf47 R304W C11orf57 V279G C11orf63 G175R C11orf63 H762R C11orf63 R247W C11orf63 R37Q C11orf63 T671M C11orf66 R129W C11orf66 S18L C11orf82 N640S C11orf82 S60F C11orf83 G89S C11orf83 R48K C11orf87 P168L C11orf87 S59P C11orf9 R557Q C11orf9 V273M C12orf10 W272R C12orf11 N36D C12orf11 R114W C12orf11 R609H C12orf11 S227P C12orf4 R335Q C12orf40 C571R C12orf40 N285S C12orf40 N562D C12orf40 R314G C12orf40 T217A C12orf40 T481I C12orf42 A281V C12orf43 E28D C12orf5 R90G C12orf50 R391Q C12orf51_ENST00000377560 T3104P C12orf66 T225M C12orf69 S118L C12orf71 D200N C13orf16 R37Q C13orf23 S667G C13orf23 S667N C13orf26 T235A C13orf26 T77A C13orf27 R84W C14orf101 E295K C14orf102 A881T C14orf102 D115N C14orf102 S69G C14orf102 S69R C14orf102 W25R C14orf105 R100I C14orf118 D272G C14orf118 K354R C14orf118_ENST00000312858 D272G C14orf135 V741L C14orf147 I60M C14orf159 D461G C14orf166 D34G C14orf21 R542H C14orf21 R626Q C14orf38 I373T C14orf39 Q358R C14orf39 Q561R C14orf39 T545A C14orf49 A923V C14orf49 E56K C14orf49 G300R C15orf2 A80T C15orf2 P337L C15orf2 P674A C15orf2 S785Y C15orf2 V488I C15orf27 V30E C15orf33 D340N C15orf33 Y251H C15orf39 R903H C15orf42 D904Y C15orf42 V1485A C15orf52 E173Q C15orf54 Q82E C15orf55_ENST00000333756 P357T C15orf55_ENST00000333756 S116L C16orf45 T106N C16orf57 P37R C16orf62 V259I C16orf62_ENST00000438132 V348I C16orf71 A265V C16orf80 R100C C16orf87 R151I C16orf89 F295L C16orf93 D162N C17orf102 R88G C17orf104 F455L C17orf28 R331C C17orf38 P357T C17orf38 R126Q C17orf47 S417P C17orf53 R558Q C17orf53 T391P C17orf57 P252S C17orf63 A537D C17orf63_ENST00000341217 A537D C17orf64 K31M C17orf66 P53S C17orf67 R60Q C17orf80 K113N C17orf97 E56K C17orf97_ENST00000360127 E340K C17orf97_ENST00000360127 E56K C17orf97_ENST00000360127 F255I C17orf98 A45V C17orf98 P41L C18orf1 D43E C18orf1 R99C C18orf19 R82H C18orf19 V140A C18orf34 K328R C18orf34_ENST00000383096 K328R C18orf8 G298S C19orf18 K140R C19orf2 A501T C19orf2 E364G C19orf2 R413Q C19orf22 A162T C19orf26 T286P C19orf28 S305P C19orf43 D169N C19orf46 N107D C19orf51 E339G C19orf6 F179L C19orf75 A181T C19orf76 R26Q C1QL2 A245T C1QL3 S214G C1QTNF1 A4V C1QTNF1_ENST00000339142 A86V C1QTNF2 E291K C1QTNF4 V274M C1QTNF7 P87T C1R E319K C1R Q260P C1S A307V C1S G47R C1S N174Y C1S R686H C1orf101 D435Y C1orf101 Q204H C1orf101 T653I C1orf101_ENST00000366534 Q204H C1orf110 T245N C1orf111 E108G C1orf114 D114E C1orf116 R558C C1orf116 S236P C1orf124 R127Q C1orf127 L286I C1orf129 R386C C1orf135 L287V C1orf141 P273S C1orf158 R115C C1orf158 R115H C1orf158 R187P C1orf159 V37I C1orf162 A121V C1orf168 K637E C1orf168 K637R C1orf168 S563L C1orf168 S563P C1orf172 R312H C1orf173 A1038T C1orf173 A1185D C1orf173 A1252S C1orf173 G676E C1orf173 L224R C1orf173 L975I C1orf173 P124Q C1orf173 R837M C1orf173 R837S C1orf182 K15R C1orf200 A54T C1orf34 A313T C1orf49 R195W C1orf50 I112V C1orf65 E54K C1orf65 G329D C1orf65 R433Q C1orf65 R433W C1orf65 T28M C1orf68 V89A C1orf74 D254N C1orf74 R122H C1orf84 R31C C1orf85 S115N C1orf87 R220C C1orf88 K124R C1orf9 E52K C1orf9 I1130M C1orf94 P219L C1orf94 P351S C2 S720N C2 T200M C20orf103 V33A C20orf107 E118K C20orf12 A350S C20orf12 A694S C20orf12 R410H C20orf132_ENST00000400441 T463A C20orf141 G108R C20orf141 R34C C20orf151 R179W C20orf152 R139C C20orf160 S41L C20orf160_ENST00000300415 S41L C20orf177 Q11H C20orf177 R283G C20orf185 V88I C20orf186 A126V C20orf186 V172M C20orf191 G41R C20orf191 H33R C20orf194 G320S C20orf197 L62P C20orf26 L587F C20orf26 P704Q C20orf26 R1088Q C20orf26 V850M C20orf43 N173S C20orf54 A188T C20orf80 A41T C20orf80 A80P C20orf80 A83T C20orf80 D62V C20orf80 E159D C20orf80 H60Y C20orf80 H8Y C20orf80 I40T C20orf80 I64T C20orf80 I89V C20orf80 K43N C20orf80 L153P C20orf80 L35F C20orf80 L50P C20orf80 L82S C20orf80 M31T C20orf80 N85D C20orf80 P15S C20orf80 P72Q C20orf80 S101N C21orf119 A29P C21orf119_ENST00000534991 A29P C21orf34 D32G C21orf62 R126C C22orf25 A246V C22orf31 A261V C22orf42 L190P C22orf43 E198D C2CD2L A557V C2CD3 M1399I C2CD3 Q1462H C2CD3 V431A C2CD3 V431M C2CD3_ENST00000334126 M1399I C2CD3_ENST00000334126 Q1462H C2CD3_ENST00000334126 V431M C2orf16 L3V C2orf16 Q258K C2orf16 R1732K C2orf16 R1775H C2orf16_ENST00000408964 L3V C2orf16_ENST00000408964 Q258K C2orf16_ENST00000408964 R1732K C2orf16_ENST00000408964 R1775H C2orf27B E13D C2orf29 D217G C2orf29 G271R C2orf29 R194L C2orf29 R194P C2orf29 R194W C2orf3 R408Q C2orf44 G230A C2orf44 N291S C2orf51 P27L C2orf53 S52C C2orf56 I282T C2orf57 T265M C2orf65 G317R C2orf76 I46V C2orf76 R19H C2orf76 V40I C2orf80 R82C C2orf81 R411Q C3 R1134W C3 R1254H C3orf15 R245H C3orf20 R24H C3orf22 R109H C3orf28 T111M C3orf30 S237R C3orf30 V256I C3orf32 F97I C3orf32 M1I C3orf33 R36Q C3orf35 A29V C3orf36 T52M C3orf39 R333W C3orf58 A230S C3orf62 S124T C3orf63 D371G C3orf63 L340M C3orf67 V141D C3orf70 S6L C3orf77_ENST00000309765 S800Y C3orf79 L42I C4BPA R331C C4orf14 G629C C4orf14 P7Q C4orf21_ENST00000505019 H1307Y C4orf22 R117C C4orf3 D145N C4orf39 L111F C4orf41 R360W C4orf41 R568Q C4orf43 E110D C4orf43 Q65P C4orf47 E53A C4orf49 E218G C5 A1252V C5AR1 T62M C5orf22 L338P C5orf23 E12D C5orf30 D4N C5orf34 D628N C5orf34 S266G C5orf34 S266R C5orf4 R114Q C5orf41 R18Q C5orf42 H1910R C5orf42 L260V C5orf42 P1946S C5orf42 S1059Y C5orf42 S842L C5orf42 V88A C5orf42_ENST00000425232 H3012R C5orf42_ENST00000425232 L1379V C5orf42_ENST00000425232 P3048S C5orf42_ENST00000425232 S1962L C5orf42_ENST00000425232 V1207A C5orf44_ENST00000399438 E9Q C5orf49 K130T C5orf49 R105C C5orf49 Y66H C5orf60 V44I C6 R600C C6 S556Y C6orf103 S568P C6orf103 V457M C6orf103_ENST00000367488 A193V C6orf103_ENST00000367493 A415V C6orf118 A212T C6orf118 T18M C6orf118 T32M C6orf132 T37A C6orf132_ENST00000341865 T37A C6orf138 A301T C6orf138 E67K C6orf138 R317W C6orf138 S499L C6orf138 V563I C6orf165 E7K C6orf165_ENST00000369562 E7K C6orf165_ENST00000369562 R601H C6orf168 R215W C6orf170 K724T C6orf170 R152C C6orf170 R152H C6orf170 S157P C6orf174 A848T C6orf191 P112S C6orf191 V37M C6orf204 K660N C6orf213 D313G C6orf213 V278E C6orf213 V38A C6orf222 K146N C6orf222 R483W C6orf224 D306N C6orf25 R85H C6orf25_ENST00000375806 R85H C6orf62 L223I C6orf70 M353V C6orf70 P432L C6orf81 E303K C6orf81 T191M C6orf97 F56C C6orf97 S639Y C7_ENST00000313164 C702Y C7_ENST00000313164 V536I C7orf16 F81L C7orf16 F81S C7orf25 R134S C7orf30 E104K C7orf31 A158T C7orf49 P54L C7orf58 D151G C7orf58 L446P C7orf58 R10C C7orf58 R717G C7orf58 R717I C7orf58 R82K C7orf58 S290L C7orf60 D119G C7orf62 D198N C7orf63 A10T C7orf63 K125N C7orf63 L257F C7orf63_ENST00000389297 K125N C7orf63_ENST00000389297 L257F C7orf65 P16L C7orf66 L11P C7orf66 R23G C7orf70 K228N C8A R484C C8A R484H C8orf22 R18Q C8orf34 L119F C8orf34 R157C C8orf34_ENST00000518698 R182C C8orf45 R215H C8orf45 Y111F C8orf46 A133V C8orf47 R313Q C8orf85 A51T C9 D124N C9orf100_ENST00000378387 P260T C9orf102 M1V C9orf102 P7S C9orf102 R108Q C9orf103 E110V C9orf107 I14T C9orf107 R27K C9orf125 H247Q C9orf125 M302I C9orf125 R127W C9orf125 R229W C9orf150 C56G C9orf156 T116S C9orf167 A145V C9orf171 R161H C9orf171 R184C C9orf171 R294H C9orf174 R32Q C9orf174 R635C C9orf21 Q208H C9orf3_ENST00000375315 R476C C9orf43 K242N C9orf43 S367L C9orf46 Q46H C9orf7 A59T C9orf72 G169S C9orf79 D1202G C9orf79 P868L C9orf84 A421V C9orf84 K677R C9orf84_ENST00000374287 K716R C9orf93 L84V C9orf93 R520Q C9orf96 G139D C9orf98_ENST00000298545 D243A C9orf98_ENST00000298545 V297F CA10 L11I CA10 R268H CA13 R228C CA9 G91E CAB39L S306R CABIN1 D76E CABP1 D242N CABP1_ENST00000288616 A52T CABP1_ENST00000288616 D99N CABP5 R83H CABS1 D80H CABS1 D84N CABS1 E241K CABS1 S163P CABS1 S376Y CACHD1 R1132C CACHD1 R362W CACHD1 S720Y CACHD1 V1017L CACNA1A A110V CACNA1A_ENST00000325084 A110V CACNA1A_ENST00000357018 A110V CACNA1A_ENST00000357018 A405T CACNA1A_ENST00000357018 R369W CACNA1A_ENST00000357018 T666M CACNA1B E2281K CACNA1B E674K CACNA1B R477H CACNA1C A1753T CACNA1C A1811V CACNA1C E1978K CACNA1C G280R CACNA1C N1547S CACNA1C N378K CACNA1C T360M CACNA1C T930M CACNA1C V2082A CACNA1C_ENST00000344100 A1716T CACNA1C_ENST00000344100 A1774V CACNA1C_ENST00000344100 E1906K CACNA1C_ENST00000344100 G250R CACNA1C_ENST00000344100 N1491S CACNA1C_ENST00000344100 N348K CACNA1C_ENST00000344100 T330M CACNA1C_ENST00000344100 T900M CACNA1C_ENST00000347598 A1723T CACNA1C_ENST00000347598 A1781V CACNA1C_ENST00000347598 N1517S CACNA1C_ENST00000347598 S1300I CACNA1C_ENST00000347598 T330M CACNA1C_ENST00000399617 A1675T CACNA1C_ENST00000399617 A1733V CACNA1C_ENST00000399617 E1900K CACNA1C_ENST00000399617 N1469S CACNA1C_ENST00000399617 S1280I CACNA1C_ENST00000399617 T330M CACNA1D A105T CACNA1D A1278T CACNA1D Q82K CACNA1D R1339C CACNA1E D1207G CACNA1E E1066K CACNA1E E1095D CACNA1E R1594H CACNA1E R590W CACNA1E V1419A CACNA1E V1419L CACNA1E V1471M CACNA1E Y1296H CACNA1E_ENST00000367573 D1207G CACNA1E_ENST00000367573 E1095D CACNA1E_ENST00000367573 V1419A CACNA1F A890T CACNA1F D314N CACNA1F G174R CACNA1F R1314C CACNA1F V1271I CACNA1G V1604I CACNA1G_ENST00000354983 V1570I CACNA1G_ENST00000359106 V1604I CACNA1H_ENST00000358590 F244L CACNA1I D1700N CACNA1I I73T CACNA1I P1247T CACNA1I_ENST00000402142 I73T CACNA1S A1028V CACNA1S A818V CACNA1S E747K CACNA1S R1096H CACNA1S R594H CACNA2D1 A352E CACNA2D1 D757Y CACNA2D1 E198K CACNA2D1 G772E CACNA2D1 M849I CACNA2D1 R754G CACNA2D1 T326A CACNA2D2 E156K CACNA2D2 R736C CACNA2D3 A332T CACNA2D3 A774T CACNA2D3 I533V CACNA2D3 R391C CACNB2 R553H CACNB4_ENST00000539935 R220H CACNG2 L120H CACNG3 A138V CACNG3 G253S CACNG3 V134I CACNG3 V315I CACNG4 R105L CACNG4 S253L CACNG5 G121R CACNG6 R20W CACNG8 V146G CAD R1033Q CAD R1567W CAD R2122H CAD T1239A CAD T585S CADM1 A420T CADM1 L147M CADM1 L303Q CADM1 S190L CADM2 N8D CADM2 N8S CADM2 P319S CADM3 A239V CADM4 R132Q CADPS A1034T CADPS E1311K CADPS R687C CADPS T934M CADPS2 D1187Y CADPS_ENST00000383710 A1073T CADPS_ENST00000383710 E1350K CADPS_ENST00000383710 P1048L CADPS_ENST00000383710 R687C CADPS_ENST00000383710 T924M CALB2 R258C CALCA P80S CALCOCO1 M1I CALCOCO1 N27S CALCOCO2 P357L CALCR Q405H CALCR V42I CALCRL V315A CALD1 A26T CALD1 Q668K CALD1 R776Q CALD1 S743Y CALD1 T489K CALD1_ENST00000393118 T254K CALML4 R150Q CALML5 K74R CALML6 A115T CALU_ENST00000542996 F187L CAMK1 P182L CAMK1 T114M CAMK1D A236V CAMK1D_ENST00000378847 A236V CAMK1G R112W CAMK2B A365T CAMK2B G131V CAMK2B T623M CAMK4 E150G CAMK4 Q147K CAMK4 R95C CAMKV G182R CAMKV_ENST00000477224 G182R CAMKV_ENST00000477224 S364T CAMLG D289V CAMSAP1 A1525V CAMSAP1 D1245N CAMSAP1L1 C82R CAMSAP1L1 R754G CAMSAP1L1 R754M CAMSAP1L1 S370N CAMTA1 A385V CAMTA1 F939L CAMTA1 S44G CAMTA1 V274A CAND2 H562N CAP2 G368V CAP2 V136I CAPG E336D CAPN10 K66E CAPN10_ENST00000270364 K66E CAPN10_ENST00000391984 K66E CAPN11 M312I CAPN2 A371V CAPN2 R318W CAPN3 I760T CAPN5 E393K CAPN5 R341H CAPN6 G358R CAPN9 T326M CAPN9_ENST00000271971 T352M CAPRIN1 P525L CAPRIN1 W215R CAPRIN1_ENST00000389645 P525L CAPRIN1_ENST00000389645 W215R CAPRIN2 E13K CAPRIN2 R215Q CAPS2 K296E CAPS2 R162Q CAPS2 S152N CAPS2_ENST00000409445 K528E CAPS2_ENST00000409445 R394Q CAPS2_ENST00000409445 S384N CAPZA3 D40N CARD10 R749W CARD10 R838W CARD11 D230N CARD11 D357V CARD11 D401G CARD11 D401N CARD11 D401V CARD11 E162K CARD11 F115I CARD11 F115L CARD11 G126D CARD11 K215E CARD11 K215R CARD11 K244R CARD11 L251P CARD11 N191S CARD11 N237K CARD11 Q249P CARD11 R170H CARD11 R337Q CARD11 R423Q CARD11 R423W CARD11 R424W CARD11 S222G CARD11 T128M CARD6 A404S CARD6 A650S CARD6 L447Q CARD6 L638F CARD6 P1000L CARD8_ENST00000391898 E74V CARD9 S23L CARM1 V167M CARNS1 I136L CASC1 H264Y CASC1 L642F CASC1 R48Q CASC4 D301G CASC5 F1899L CASC5 I1880V CASC5 K1285E CASC5_ENST00000346991 I1880V CASD1 R496C CASKIN1 E343K CASKIN1_ENST00000382453 E172K CASP10 S366T CASP10 V252A CASP10_ENST00000272879 S366T CASP10_ENST00000272879 V252A CASP14 F195L CASP14 R5W CASP1_ENST00000533400 G85E CASP2 R361C CASP4 E351Q CASP4 I253T CASP4 K129R CASP5 D75N CASP5 E173G CASP5_ENST00000393141 E202G CASP5_ENST00000393141 L347V CASP8 G342D CASP8AP2 S1728Y CASP8_ENST00000358485 G384D CASQ1 E228G CASQ2 E159K CASR N996T CASR P923L CASR R1041W CASR R678H CASS4 R517W CASS4 S254G CAST A401V CAST D672N CAST T154M CAST V573E CASZ1 R528C CASZ1 T503M CAT R363S CATSPER1 D68N CATSPER1 F624L CATSPER1 H46Q CATSPER1 Q11H CATSPER1 T592P CATSPER1 V166M CATSPER2 H31R CATSPER4 T425A CATSPERB F1036L CATSPERB T223A CATSPERG G577R CATSPERG S768P CAV3 A134T CAV3 R126H CBFA2T3 A534V CBFB_ENST00000412916 E152K CBL C381R CBL C381Y CBL C384R CBL C384Y CBL C396R CBL C396Y CBL C401R CBL C401Y CBL C404R CBL C404S CBL C404Y CBL C416W CBL C416Y CBL C419R CBL E366K CBL E412K CBL F418L CBL F418S CBL G413R CBL G415S CBL H398R CBL K287R CBL K382E CBL L338S CBL L380P CBL M400T CBL P417A CBL P417L CBL P417R CBL P428L CBL Q367R CBL R420L CBL R420P CBL R420Q CBL S407P CBL S675C CBL V391I CBL W408C CBL W408R CBL W408S CBL Y371D CBL Y371H CBLB D759G CBLB R734W CBLN1 A106S CBLN4 L169P CBLN4 S74L CBR1 V144I CBS E104D CBX2 R137C CBX8 G317V CC2D1A A636T CC2D1A E588K CC2D2A R1176C CCAR1 K156E CCAR1 S137P CCAR1 S992P CCBL1 G169S CCBL1 P148L CCBL2 D233A CCBL2 G305C CCBL2 R331Q CCBL2_ENST00000260508 S341Y CCBL2_ENST00000370491 S307Y CCBP2 R79W CCDC101 A66T CCDC101 R56W CCDC101 R60C CCDC102A Q351E CCDC102B K298R CCDC102B L426P CCDC102B R278C CCDC106 D256N CCDC106 R242H CCDC108 P720S CCDC108 R1129C CCDC11 D326E CCDC11 S77G CCDC110 K393N CCDC111 G357R CCDC112 R72C CCDC117 M277I CCDC121 W235L CCDC121_ENST00000394775 W397L CCDC125 A274V CCDC126 T133M CCDC129 R190Q CCDC13 H82L CCDC135 L299Q CCDC135 R583W CCDC135 R615H CCDC136 D918N CCDC136_ENST00000297788 D918N CCDC137 R128H CCDC138 W431C CCDC141 E600G CCDC141 R384G CCDC141 R494G CCDC141_ENST00000420890 E1175G CCDC141_ENST00000420890 E1204V CCDC141_ENST00000420890 E807D CCDC141_ENST00000420890 R1069G CCDC141_ENST00000420890 R959G CCDC144B M803I CCDC144B V1408I CCDC144C V101A CCDC144C V244I CCDC144NL R9W CCDC146 M548I CCDC147 L307F CCDC147 R781L CCDC15 G529D CCDC15 H458P CCDC150 L542V CCDC151 E287Q CCDC151 Q217H CCDC151 V229M CCDC155 L531M CCDC157 R223H CCDC157 S647P CCDC157_ENST00000405659 R274H CCDC157_ENST00000405659 S698P CCDC158 E102D CCDC158 E668G CCDC158 R583Q CCDC158 R836C CCDC15_ENST00000344762 G529D CCDC15_ENST00000344762 H458P CCDC18 K733N CCDC18 R1200Q CCDC19 E426K CCDC27 A141D CCDC27 P132H CCDC3 E195G CCDC3 Q116R CCDC35 R880H CCDC37 R248T CCDC37 T177M CCDC39 I195L CCDC39_ENST00000442201 I111L CCDC40 I430M CCDC40 M920I CCDC40_ENST00000374877 I430M CCDC41 K208I CCDC41 R511Q CCDC42 A36V CCDC48 G9S CCDC48 S144L CCDC48_ENST00000480450 S581L CCDC51 Q323E CCDC51 R120Q CCDC54 S148F CCDC59 Q180K CCDC6 L217P CCDC60 E101K CCDC60 R230H CCDC62 R82I CCDC62_ENST00000253079 R82I CCDC63 A132T CCDC63 D456N CCDC63 G545R CCDC63 I182T CCDC63 R356Q CCDC63 V268I CCDC64 D533G CCDC64 R315C CCDC65 T392N CCDC69 E20G CCDC7 E99K CCDC7 K75N CCDC70 K56N CCDC71 D437V CCDC71 R310W CCDC73 P608T CCDC73 V505I CCDC74A G302R CCDC74B R280C CCDC77 E418Q CCDC77 V24I CCDC78 A172V CCDC78 E155K CCDC8 E370G CCDC80 R115C CCDC80 R131C CCDC80 S205N CCDC81 R169I CCDC81 R41W CCDC81_ENST00000445632 R41W CCDC82 V17M CCDC83 R117L CCDC85A V309M CCDC86 S102P CCDC87 E97K CCDC88A D1409G CCDC88A L189P CCDC88A P1590L CCDC88A R1201C CCDC88A R707Q CCDC88A_ENST00000336838 D1408G CCDC88A_ENST00000336838 L189P CCDC88A_ENST00000336838 P1617L CCDC88A_ENST00000336838 R1200C CCDC88C_ENST00000389857 R1255W CCDC89 Q167H CCDC89 R90C CCDC9 K13R CCDC91 E208K CCDC93 H315R CCDC93 R317G CCDC97 R112H CCDC99 L371P CCDC99 R264Q CCHCR1 R229W CCHCR1 T703I CCHCR1_ENST00000396268 R318W CCHCR1_ENST00000396268 T792I CCIN D83G CCKAR R283Q CCKAR R73Q CCKBR R356C CCKBR R396C CCKBR V236M CCKBR_ENST00000525462 R425C CCKBR_ENST00000525462 R465C CCL18 M15V CCL28 G122S CCL7 R61W CCM2 L374M CCM2 T95M CCNA1 A429V CCNA1 C452R CCNA1 V359I CCNB1 G298V CCNB3 P454H CCNB3 P525L CCNB3 Q899K CCNB3 S361F CCNB3 S944Y CCNB3 V680A CCNB3_ENST00000376042 P525L CCNB3_ENST00000376042 Q899K CCNB3_ENST00000376042 S361F CCNB3_ENST00000376042 S944Y CCNB3_ENST00000376042 V680A CCND1 P287S CCND1 R260C CCND1 T286I CCND1_ENST00000227507 R260C CCND3 I290K CCND3 P284L CCND3 P284S CCND3 S259A CCNDBP1 R305Q CCNE1 A410V CCNE1 P407L CCNF Q507K CCNF V705I CCNF_ENST00000397066 Q507K CCNG1 L227P CCNH L187F CCNH T201A CCNI N349Y CCNL1 N295I CCNT1 R633C CCR1 S262Y CCR2 C221F CCR2 I245T CCR2_ENST00000445132 I245T CCR3 F316S CCR3 V56A CCR5 A92D CCR5 A92T CCR5 F109Y CCR5 F78L CCR5 F85L CCR5 L104F CCR5 L161V CCR5 N57I CCR5 R168K CCR5 V130I CCR5 V83L CCR7 R54W CCR8 N232D CCR9 K245N CCRL1 F188S CCT4 E459D CCT4 E459G CCT6B E195D CCT6B R17Q CCT6B R217H CCT6B R396C CCT6B V235I CCT6B V87I CCT8L2 S237R CD101 D283Y CD101 Q223R CD101 R594Q CD109 N1065S CD109 R1114G CD163 R838H CD163 V1066I CD163L1 A764D CD163L1 R1249C CD163L1 R215C CD163L1 S651F CD1A A264T CD1A A270T CD1A F75V CD1A L131F CD1A L305V CD1A R279Q CD1E F85V CD1E K358N CD1E M243I CD200 F176L CD200R1 T78A CD207 M102T CD207 P36L CD209 Q106R CD209 Q212L CD209 R129Q CD209 R129W CD209 W152R CD209_ENST00000315599 Q106R CD209_ENST00000315599 Q212L CD209_ENST00000315599 R129Q CD209_ENST00000315599 R129W CD209_ENST00000315599 W152R CD22 A702S CD22 R802C CD226 A228T CD226 E232K CD226 K146N CD244 V269A CD244_ENST00000368033 V274A CD276 D45N CD28 D33N CD2BP2 E288G CD300A Q54H CD300E R117H CD300LB R132G CD300LG E110K CD33 R62Q CD34 V98L CD36 F135L CD36 F266L CD36 T92M CD36_ENST00000433696 F266L CD36_ENST00000433696 T92M CD36_ENST00000435819 T92M CD36_ENST00000447544 T92M CD38 S264L CD3D D54G CD40 G266D CD40LG H60N CD40LG R11Q CD47 S75P CD48 T233M CD5 R292S CD52 R3C CD55 L38P CD55_ENST00000314754 L38P CD5L A19V CD5L R150H CD5L R177W CD5L R298W CD5L R32H CD5L R36W CD5L V37G CD6 H367Y CD6 S52G CD63 R120W CD69 M1I CD6_ENST00000313421 H367Y CD6_ENST00000313421 S52G CD7 A167G CD70 R192C CD74 R10W CD74_ENST00000009530 R10W CD79A T161M CD79B Y196H CD80 V225A CD84 R84W CD8A F128L CD93 S253L CD93 V72I CD96 D479V CD96 N133S CDA V75A CDA V75I CDAN1 R863C CDC123 E293K CDC14A D493Y CDC14B R375C CDC16 R320G CDC20B E189K CDC23 V462M CDC25A R506Q CDC25B R241C CDC25B_ENST00000245960 R220C CDC27 A273G CDC27 A274D CDC27 D549E CDC27 F510C CDC27 G265D CDC27 G270A CDC27 I487V CDC27 N453S CDC27 S252T CDC27 S566L CDC27_ENST00000531206 A273G CDC27_ENST00000531206 A274D CDC27_ENST00000531206 D555E CDC27_ENST00000531206 F516C CDC27_ENST00000531206 I493V CDC27_ENST00000531206 N459S CDC27_ENST00000531206 S252T CDC27_ENST00000531206 S572L CDC37L1 H218R CDC42 S30L CDC42BPA E299G CDC42BPA I530V CDC42BPA P594T CDC42BPA R460K CDC42BPA S344G CDC42BPA_ENST00000366766 E299G CDC42BPA_ENST00000366766 I530V CDC42BPA_ENST00000366766 P675T CDC42BPA_ENST00000366766 S344G CDC42BPA_ENST00000366769 E299G CDC42BPA_ENST00000366769 I530V CDC42BPA_ENST00000366769 P675T CDC42BPA_ENST00000366769 S344G CDC42BPG_ENST00000342711 R1026C CDC42EP1 A256T CDC42EP1 S65N CDC42EP3 E212K CDC42EP3 N13K CDC42EP3 S115F CDC45 F10L CDC5L G479W CDC5L K264E CDC5L R750H CDC6 E153G CDC6 R445G CDC7 D62G CDC7 G119E CDC7 S148Y CDC73 L5P CDC73 R147C CDC73 T369N CDC73 Y54H CDC73 Y55C CDCA2 E845K CDCA7L E279D CDCA8 R176Q CDCP1 P716S CDCP1 S523R CDH1 A286T CDH1 A592T CDH1 A617T CDH1 A634V CDH1 D254N CDH1 D334H CDH1 D370H CDH1 D402N CDH1 D479G CDH1 D479Y CDH1 E353G CDH1 G571S CDH1 I300T CDH1 L581P CDH1 M282I CDH1 N315S CDH1 N369D CDH1 P245L CDH1 Q23R CDH1 R732Q CDH1 R74Q CDH1 S838G CDH1 T295I CDH1 T340A CDH1 T522A CDH1 T599A CDH1 V456A CDH1 W532R CDH10 D324G CDH10 E349K CDH10 G251W CDH10 K523N CDH10 K53E CDH10 Q538E CDH10 R472C CDH10 R687Q CDH10 S173P CDH10 T258A CDH10 T726A CDH10 V371E CDH11 A489V CDH11 D548Y CDH11 E646D CDH11 E646V CDH11 H464Y CDH11 I103V CDH11 P380H CDH11 R657C CDH11 V168M CDH11 V272I CDH12 A453V CDH12 D674N CDH12 E86K CDH12 K341N CDH12 P190T CDH12 R46W CDH12 T711P CDH12 V464I CDH13_ENST00000431540 A103V CDH13_ENST00000431540 I38M CDH13_ENST00000431540 V96I CDH15 R35H CDH17 K811R CDH17 S484G CDH18 A723V CDH18 G573S CDH18 G748V CDH18 R357C CDH18 R558Q CDH18 T757M CDH18 V33A CDH18 V374F CDH18_ENST00000507958 G573S CDH18_ENST00000507958 G748V CDH18_ENST00000507958 R558Q CDH18_ENST00000507958 T757M CDH18_ENST00000507958 V33A CDH19 Q640K CDH19 T581P CDH2 D547Y CDH2 F267L CDH2 I648V CDH2 L168V CDH2 R430W CDH20 A134V CDH20 R454Q CDH22 A483V CDH22 E337G CDH22 R124C CDH22 R488Q CDH22 R533H CDH22 V634I CDH23 A414V CDH23 E2049K CDH23 F182L CDH23 L224M CDH23 N3049S CDH23 R1145S CDH23 R431H CDH23 S2491R CDH23 S441N CDH23 V192I CDH23_ENST00000398809 A409V CDH23_ENST00000398809 F177L CDH23_ENST00000398809 L219M CDH23_ENST00000398809 V187I CDH24 E96G CDH24_ENST00000397359 E96G CDH26 E823D CDH26 G583E CDH26 S148C CDH26_ENST00000244047 S148C CDH3 D373G CDH3 E413K CDH4 D272N CDH4 L700V CDH4 R194W CDH4 R204W CDH4 R315W CDH5 A353T CDH5 N79D CDH5 V141D CDH6 E695K CDH6 E722K CDH6 E741K CDH6 F60L CDH6 G243S CDH6 G42R CDH6 R640Q CDH7 N528K CDH8 A623T CDH8 D196Y CDH8 G183C CDH8 I316T CDH8 I617N CDH8 K526Q CDH8 L291H CDH8 L323P CDH8 P389L CDH8 P481H CDH8 Y533H CDH9 D240Y CDH9 F316I CDH9 F523L CDH9 K129N CDH9 L163V CDH9 P535L CDH9 P772T CDH9 R137W CDHR1 R78G CDHR1_ENST00000332904 E722K CDHR2 P1004L CDHR2 P930T CDHR2 V1175M CDHR3 E128K CDHR3 E356K CDHR3 R633H CDHR3_ENST00000317716 E128K CDHR3_ENST00000317716 E356K CDHR3_ENST00000317716 R633H CDHR5 A443T CDHR5 E123K CDK11A D643E CDK12 A1174G CDK12 R890H CDK12 R912C CDK12 Y901C CDK13 F1344L CDK13 T670A CDK13 T876A CDK14 D319G CDK14 R407Q CDK14_ENST00000380050 D337G CDK15 F243L CDK15 V210M CDK16 D421N CDK16 M441I CDK16 R102C CDK16_ENST00000276052 D495N CDK16_ENST00000276052 M515I CDK17 L310S CDK17 R312G CDK19 D90G CDK19 R254W CDK1_ENST00000395284 R275Q CDK2 H125Y CDK2 P45L CDK5RAP1 D475Y CDK5RAP1 D542Y CDK5RAP1 E48G CDK5RAP2 K1028Q CDK5RAP2 T962A CDK5RAP2 T962S CDK8 V193G CDKAL1 G523R CDKL1_ENST00000395834 Q275E CDKL2 R149Q CDKL3_ENST00000265334 R464C CDKL4 I103T CDKL5 A374T CDKL5 D905G CDKL5 S603F CDKL5 Y433F CDKN2A A100P CDKN2A A100S CDKN2A A102E CDKN2A A102V CDKN2A A109V CDKN2A A132P CDKN2A A147T CDKN2A A20P CDKN2A A20T CDKN2A A21D CDKN2A A30V CDKN2A A34V CDKN2A A36T CDKN2A A40V CDKN2A A57P CDKN2A A57T CDKN2A A57V CDKN2A A5T CDKN2A A60V CDKN2A A68T CDKN2A A68V CDKN2A A76T CDKN2A A76V CDKN2A D108H CDKN2A D108N CDKN2A D108Y CDKN2A D116Y CDKN2A D125N CDKN2A D14E CDKN2A D74N CDKN2A D74V CDKN2A D74Y CDKN2A D84G CDKN2A D84H CDKN2A D84N CDKN2A D84V CDKN2A D84Y CDKN2A E119Q CDKN2A E120K CDKN2A E69V CDKN2A E88D CDKN2A E88K CDKN2A F90L CDKN2A G101W CDKN2A G111D CDKN2A G122D CDKN2A G122S CDKN2A G35E CDKN2A G35R CDKN2A G45D CDKN2A G67S CDKN2A G67V CDKN2A G89S CDKN2A H123Q CDKN2A H66R CDKN2A H83N CDKN2A H83P CDKN2A H83R CDKN2A H83Y CDKN2A H98R CDKN2A I49M CDKN2A L130P CDKN2A L130Q CDKN2A L130R CDKN2A L16P CDKN2A L63P CDKN2A L63V CDKN2A L65P CDKN2A L97P CDKN2A L97R CDKN2A M52I CDKN2A M52K CDKN2A M9I CDKN2A N71K CDKN2A P114H CDKN2A P114L CDKN2A P114S CDKN2A P48L CDKN2A P70L CDKN2A P75L CDKN2A P81H CDKN2A P81L CDKN2A R112G CDKN2A R124H CDKN2A R128Q CDKN2A R128W CDKN2A R131H CDKN2A R138I CDKN2A R22P CDKN2A R24P CDKN2A R80Q CDKN2A R87W CDKN2A R99Q CDKN2A R99W CDKN2A S43I CDKN2A T137A CDKN2A T79I CDKN2A V106M CDKN2A V115L CDKN2A V126F CDKN2A V51A CDKN2A V51I CDKN2A V82M CDKN2A V95L CDKN2A Y129C CDKN2A_ENST00000361570 G143V CDKN2A_ENST00000361570 P113L CDKN2A_ENST00000361570 P135L CDKN2A_ENST00000361570 R112H CDKN2A_ENST00000361570 R139L CDKN2A_ENST00000361570 R139Q CDKN2A_ENST00000446177 A57T CDKN2A_ENST00000446177 D108N CDKN2A_ENST00000446177 D108Y CDKN2A_ENST00000446177 D84N CDKN2A_ENST00000446177 D84Y CDKN2A_ENST00000446177 P114L CDKN2A_ENST00000446177 R124H CDO1 T148M CDR1 R151C CDR2 A247V CDRT15 R27Q CDS1 A215T CDS1 V162L CDS2 R382H CDT1 T406P CDX4 P79L CDX4 V164L CDYL S9P CDYL T2A CDYL2 L499V CDYL2 R248Q CEACAM1 C308R CEACAM3 A94T CEACAM3 S252F CEACAM4 P91T CEACAM4 V140I CEACAM5 L640I CEACAM5 T298M CEACAM6 P186L CEACAM8 P142S CEBPA A176V CEBPA A199L CEBPA E316K CEBPA G122E CEBPA G177F CEBPA G340S CEBPA L175V CEBPA L324Q CEBPA L335Q CEBPA P180H CEBPA P39S CEBPA Q305P CEBPA R297P CEBPA R300C CEBPA R300L CEBPA R306P CEBPA S21R CEBPA V314M CEBPZ W234S CECR1 A35V CECR2 F137L CECR2 G1011S CECR2 L319I CECR2 R1331Q CECR2 R309C CECR5 G321V CECR5 L212F CEL A725P CEL R156H CELA2A S195G CELF3 R182H CELF3 T73M CELF4 A308V CELF4 A354V CELF4 F251L CELF4 M33I CELSR1 F2518L CELSR1 P2600H CELSR1 R1649W CELSR1 R1924C CELSR1 V2703M CELSR1 W1958G CELSR2 V2498M CELSR3 G2803R CELSR3 L897P CELSR3 M758V CELSR3 Q2599H CELSR3 R2330H CENPE E170K CENPE R1429T CENPE R2592Q CENPE R967Q CENPE S810L CENPF E1568D CENPF G1514V CENPF K19R CENPF K306E CENPF M991I CENPF Q35R CENPF Q541R CENPF R2127H CENPF R2702W CENPF T1281A CENPF T1281I CENPF T2971M CENPH K138N CENPI K625N CENPJ E212D CENPJ R1023C CENPV R188H CEP104 V485I CEP112 I506F CEP112_ENST00000392769 I506F CEP128 A22D CEP128 R422Q CEP128 S108C CEP135 K749E CEP135 K749R CEP135 R290H CEP135 R790C CEP135 R924G CEP152 E21K CEP152 K379N CEP152 S1284R CEP164 P143H CEP164 R914W CEP170 R643Q CEP19 S159P CEP192 H638Y CEP192 R1522H CEP192 S1462L CEP192 S1598R CEP192 V888I CEP192_ENST00000506447 H1234Y CEP192_ENST00000506447 R2118H CEP192_ENST00000506447 S2058L CEP192_ENST00000506447 S2194R CEP250 E1887G CEP250 Q413E CEP250 S1187P CEP290 N1675D CEP290 N1675S CEP350 R1344C CEP350 R1740W CEP350 R656Q CEP350_ENST00000367607 A2491T CEP350_ENST00000367607 N612S CEP350_ENST00000367607 R1344C CEP350_ENST00000367607 R656Q CEP44 S253L CEP57 G341S CEP68 R655K CEP68 S656A CEP97 F619I CER1 A199T CER1 E174K CERCAM R402H CERCAM_ENST00000372838 R480H CERKL P531T CERKL_ENST00000339098 P557T CES1_ENST00000360526 K37T CES2 D224G CES3 A523V CES3 K326R CES4A G210R CES5A L271P CES5A S457P CES5A T73M CES5A V52A CES5A_ENST00000521992 L300P CES5A_ENST00000521992 S536P CES5A_ENST00000521992 T474M CETN2 M97I CETP G21S CETP R299C CETP V363A CFH G554S CFH P869S CFH R257H CFH R341H CFH R830W CFH S720T CFH V72I CFHR2_ENST00000367415 R132W CFHR4 A293P CFHR4 A309V CFHR4_ENST00000367416 A555V CFHR5 N216S CFHR5 Q399R CFHR5 V110I CFI H401N CFL2 I47M CFP R346H CGN E1137G CGN P5A CGNL1 P107L CHAD R312Q CHADL R656W CHAT R323H CHD1 D1680Y CHD1 R1189Q CHD1 R1574I CHD1 R900Q CHD2 F1146L CHD2 H620L CHD2 L1270F CHD3 A241P CHD3 P1775A CHD4 R975H CHD4_ENST00000309577 P904T CHD4_ENST00000309577 R1162Q CHD4_ENST00000309577 R1162W CHD4_ENST00000309577 R1905Q CHD4_ENST00000309577 R572Q CHD4_ENST00000309577 R957W CHD4_ENST00000309577 R975H CHD4_ENST00000357008 A1405V CHD4_ENST00000357008 R1162Q CHD4_ENST00000357008 R1338I CHD4_ENST00000357008 R1515C CHD4_ENST00000357008 R572Q CHD4_ENST00000357008 R975H CHD5_ENST00000262450 A772V CHD5_ENST00000262450 A801T CHD5_ENST00000262450 D81Y CHD5_ENST00000262450 R1306L CHD5_ENST00000262450 R667G CHD5_ENST00000262450 T536M CHD6 A345T CHD6 D2713V CHD6 E1918Q CHD6 E1954K CHD6 R440W CHD7 G358C CHD7 H1016Q CHD7 K1458E CHD7 R858Q CHD7 S2896P CHD7_ENST00000423902 G358C CHD7_ENST00000423902 K1458E CHD7_ENST00000423902 R858Q CHD8 A524T CHD8 H803R CHD8 R1092H CHD8_ENST00000430710 R813H CHD9 Q894E CHD9 S76A CHDH R251H CHEK1 N63H CHEK1 R160H CHEK2 K373E CHEK2 L363F CHEK2 M381V CHEK2 P536L CHEK2 P536Q CHEK2 R346C CHEK2 R346S CHEK2 R519G CHEK2 R519Q CHEK2 R521W CHEK2 R523H CHEK2 R523P CHEK2 R535H CHEK2 S398C CHEK2 Y390C CHEK2 Y404D CHERP G404S CHGA G148R CHGB A205S CHGB G170E CHGB R155C CHGB R258Q CHGB S93T CHI3L1 L127V CHIC2 R112Q CHIC2 R125G CHKB Q360R CHL1 A335V CHL1 I169V CHL1 I402N CHL1 L17F CHL1 R438H CHL1 S234G CHM F52L CHM R488W CHML R269L CHML R269Q CHML R269W CHML S342P CHML S514P CHMP2A R131Q CHMP4C G84C CHMP4C M123I CHMP6 A195V CHN1 D100N CHN2 D419E CHN2 I43M CHP2 V175M CHRAC1 I27T CHRD R734Q CHRD V505M CHRDL1 R224H CHRD_ENST00000342610 R447Q CHRD_ENST00000342610 V218M CHRM2 D253N CHRM2 I144V CHRM2 P437H CHRM2 R52H CHRM2 V95A CHRM3 K488E CHRM3 P428S CHRM3 V161A CHRM3 V443I CHRM5 R142C CHRNA1 I246T CHRNA1 M323I CHRNA1 V53M CHRNA10 D418Y CHRNA2 E418V CHRNA2 R61W CHRNA2 S4Y CHRNA3 E376K CHRNA3 S423P CHRNA4 P361L CHRNA4 R566Q CHRNA4 S396R CHRNA4 T324A CHRNA5 K209N CHRNA5 R248H CHRNA5 V441I CHRNA6 C28W CHRNA7 D111G CHRNA9 D437E CHRNB1 E32G CHRNB2 K156N CHRNB2 R365Q CHRNB2 V316M CHRNB3 L426F CHRND R243H CHRNG A259T CHRNG E123K CHST1 E358K CHST10 R229W CHST11 A159T CHST11 R221W CHST11 R42Q CHST15 H239N CHST15 S408L CHST15 W353L CHST15_ENST00000421115 H239N CHST15_ENST00000421115 S408L CHST15_ENST00000421115 W353L CHST2 A372T CHST2 K467N CHST2 R225H CHST2 R365H CHST4 D352N CHST4 R335H CHST5 A107V CHST5 T318M CHST6 A289T CHST8 D410Y CHST8 G6R CHST8 R307C CHST9 R398G CHST9_ENST00000284224 R313G CHSY1 Q729H CHSY3 G629R CHSY3 K619N CHTF18 Q812R CHTF18 T933M CHUK K237E CHUK K237R CIC R215Q CIC R215W CIDEA V191M CILP R1022H CILP R175H CIR1 E342G CISD1 R40Q CIT D772G CIT V112G CIT_ENST00000261833 D729G CIT_ENST00000392521 D771G CIZ1 V471A CIZ1 V638A CKAP2 N580S CKMT2 A365T CKMT2 A71T CLASP1 A635T CLASP1 A807V CLASP2 G199R CLASP2 Q759H CLASRP H44R CLASRP R275W CLC G86D CLCA1 A318V CLCA1 S581F CLCA2 A362G CLCA2 D355N CLCA4 A573V CLCA4 G682E CLCA4 K823N CLCN1 E291K CLCN1 E422K CLCN1 R338Q CLCN3 I107T CLCN4 R360C CLCN5 G333E CLCN5 R338C CLCN5 R554W CLCN5_ENST00000376088 R408C CLCN5_ENST00000376088 R624W CLCN7 R681C CLCNKA I524V CLCNKA R663G CLCNKB R438C CLCNKB V524I CLDN1 A170V CLDN10 F144L CLDN10 R62Q CLDN10_ENST00000299339 S16L CLDN11 A83T CLDN11 T101A CLDN12 T145S CLDN15 A98V CLDN17 E48D CLDN17 E48G CLDN17 T213M CLDN2 A137V CLDN24 V137I CLDN5 V85M CLDN6 I143V CLDN6 V220I CLDN9 L90V CLDND1 L198P CLDND1_ENST00000437922 L221P CLEC14A G254S CLEC18A T91I CLEC18B G332R CLEC18B T151M CLEC18C R423H CLEC1A G26A CLEC1A R123H CLEC1A S97P CLEC2A R17Q CLEC2D N19K CLEC2L A80T CLEC2L E145K CLEC3A R156C CLEC3A R188T CLEC4C A181V CLEC4C R179L CLEC4C S138Y CLEC4C V71I CLEC4F A231T CLEC4F E97G CLEC4F I390V CLEC4M S348L CLEC9A G46R CLEC9A S110N CLGN F220L CLIC2 R145H CLIC2 R222C CLIC6 M685I CLIP1 E1001K CLIP3 A271T CLIP3 R86C CLIP4 A254V CLIP4 W608L CLK4 R2L CLK4 R2W CLK4_ENST00000316308 R2L CLK4_ENST00000316308 R2W CLMN A934T CLN8 G22E CLN8 R129Q CLOCK F785L CLPS A11T CLPTM1 K172R CLPTM1L A353V CLPX I363V CLSPN C443Y CLSPN E441D CLSPN E441G CLSPN H439R CLSPN N437D CLSPN N437S CLSPN R491W CLSPN_ENST00000251195 C443Y CLSPN_ENST00000251195 E441D CLSPN_ENST00000251195 E441G CLSPN_ENST00000251195 H439R CLSPN_ENST00000251195 N437D CLSPN_ENST00000251195 N437S CLSTN1 C629G CLSTN1 R683H CLSTN2 A669T CLSTN2 R758C CLSTN2 R765Q CLSTN2 R777C CLSTN2 S193G CLSTN2 T170M CLSTN3 M785I CLSTN3 R779Q CLTCL1 L1471P CLTCL1 V846A CLU Q307H CLU R250W CLUAP1 E218K CLUL1 P298S CLVS1 I76T CLVS1 Q55R CLVS2 D313G CLVS2 V278E CLVS2 V38A CLYBL V231I CMAS Q332H CMAS R110Q CMBL V154I CMKLR1 R151C CMKLR1 R251H CMTM2 C157S CMTM3 A64T CMYA5 F1885L CMYA5 K813R CMYA5 R2677K CMYA5 T2592I CMYA5_ENST00000446378 F1885L CMYA5_ENST00000446378 K813R CMYA5_ENST00000446378 R2677K CNBD1 L396R CNBD1 R318H CNBD1_ENST00000518476 L396R CNBD1_ENST00000518476 R318H CNDP2 R334I CNGA1 A557S CNGA2 R617H CNGA2 R632C CNGA2 R97H CNGA2 T5N CNGA3 A619V CNGA3 A621V CNGA3 R569C CNGA3 R646C CNGA3 T245M CNGA3 V382A CNGA3 V529L CNGA4 V179I CNGB1 R199C CNGB3 D443H CNGB3 G107R CNGB3 R140C CNIH3 D118N CNIH4 N92D CNIH4 N92S CNKSR1 H687Y CNKSR2 E83D CNKSR2 L789M CNKSR2 T269I CNKSR2 T87N CNKSR2 Y30H CNKSR3 S296P CNN3 I62R CNNM1 Q311H CNNM1 R219W CNOT1 R1640Q CNOT1 R591H CNOT1 T1510A CNOT10 Q697R CNOT1_ENST00000441024 R591H CNOT2 R98H CNOT3 E20K CNOT3 E70K CNOT3 Q684R CNOT4 R44Q CNOT4_ENST00000262563 R44Q CNOT4_ENST00000315544 R44Q CNOT4_ENST00000541284 R44Q CNOT6L A386T CNOT6L V411I CNOT6L_ENST00000264903 A306V CNOT6L_ENST00000264903 A357T CNOT6L_ENST00000264903 V382I CNPY1 D40Y CNP_ENST00000393892 R7Q CNR1 E31K CNR1 M337I CNR1 N187Y CNR1 V285I CNRIP1 R102W CNRIP1_ENST00000409559 R102W CNTFR Y168H CNTN1 A728V CNTN1 R506Q CNTN1 T505M CNTN3 E701D CNTN3 K246E CNTN4 A274V CNTN4_ENST00000418658 A602V CNTN5 E1003K CNTN5 P307S CNTN5 R381C CNTN5 S23A CNTN5 S514F CNTN5 S94G CNTN5 V853I CNTN5_ENST00000524871 E1003K CNTN5_ENST00000524871 S23A CNTN5_ENST00000524871 S94G CNTN5_ENST00000524871 V853I CNTN6 G664V CNTN6 K777N CNTN6 L105H CNTN6 T108A CNTN6 V718I CNTNAP2 A1310T CNTNAP2 A674T CNTNAP2 R1016Q CNTNAP2 R389W CNTNAP2 R92Q CNTNAP2 S586R CNTNAP2 T648M CNTNAP2 V345I CNTNAP2 V786I CNTNAP3 D1083Y CNTNAP3 D496N CNTNAP3 R786H CNTNAP3B L652R CNTNAP3B M1247I CNTNAP4 C705G CNTNAP4 G689V CNTNAP4 L484V CNTNAP4 R374Q CNTNAP4 R647C CNTNAP4 R718W CNTNAP4 S691L CNTNAP4 V347L CNTNAP4 Y408S CNTNAP4_ENST00000307431 C729G CNTNAP4_ENST00000307431 L1065I CNTNAP4_ENST00000307431 L508V CNTNAP4_ENST00000307431 R742W CNTNAP4_ENST00000307431 V371L CNTNAP4_ENST00000307431 Y432S CNTNAP4_ENST00000478060 C657G CNTNAP4_ENST00000478060 G641V CNTNAP4_ENST00000478060 L436V CNTNAP4_ENST00000478060 L993I CNTNAP4_ENST00000478060 R599C CNTNAP4_ENST00000478060 R670W CNTNAP4_ENST00000478060 S643L CNTNAP4_ENST00000478060 V299L CNTNAP5 C544R CNTNAP5 C544Y CNTNAP5 F326V CNTNAP5 G511V CNTNAP5 K1275E CNTNAP5 K1275R CNTNAP5 K164N CNTNAP5 N791S CNTNAP5 P613S CNTNAP5 R276W CNTNAP5 R643W CNTNAP5 T397A CNTNAP5 T93M CNTNAP5 V1168I CNTNAP5 V793I CNTNAP5 V859A CNTNAP5 Y1263C CNTNAP5 Y1263H CNTRL_ENST00000373855 F2055V CNTROB K710N COASY L107F COBL A628P COBL K819R COBL R20P COBLL1 K732N COBRA1 T466M COCH P267S COE4_HUMAN D129N COG1 D384G COG1 P939L COG2 R111W COG3 R620C COG4 V689F COG5 L478V COL11A1 A1391G COL11A1 A1391V COL11A1 A1770V COL11A1 E342G COL11A1 E392K COL11A1 F1722V COL11A1 G1342C COL11A1 G1357C COL11A1 K1665N COL11A1 P1104L COL11A1 P839S COL11A1 S1739R COL11A1 V578I COL11A1_ENST00000370096 A1379G COL11A1_ENST00000370096 A1379V COL11A1_ENST00000370096 D270Y COL11A1_ENST00000370096 E330G COL11A1_ENST00000370096 E380K COL11A1_ENST00000370096 F1710V COL11A1_ENST00000370096 G1330C COL11A1_ENST00000370096 G1345C COL11A1_ENST00000370096 S1727R COL11A1_ENST00000370096 V566I COL12A1 D440N COL12A1 D910Y COL12A1 K1344N COL12A1 K831T COL12A1 N1849S COL12A1 R1742C COL12A1 R933H COL12A1 S395L COL12A1 S554P COL12A1 T2408M COL12A1 T2618M COL13A1_ENST00000398978 G149R COL14A1 A1591T COL14A1 D633N COL14A1 E931G COL14A1 E931K COL14A1 P277Q COL14A1 R1082I COL14A1 R1402Q COL14A1 R566Q COL15A1 G342S COL15A1 S37F COL16A1 D152N COL16A1 T85A COL16A1 T88M COL17A1 P1004L COL19A1 G804R COL19A1 K1019R COL19A1 L18F COL19A1 P538L COL1A1 P924L COL1A1 R244H COL1A2 G676C COL1A2 P522L COL1A2 R693Q COL1A2 R938H COL20A1 R641Q COL21A1 D402Y COL22A1 P1368L COL22A1 P1578S COL22A1 R227H COL22A1 R582C COL22A1 S1458Y COL22A1 V1179I COL22A1 V175M COL24A1 G714V COL24A1 L1678F COL24A1 R243H COL25A1 A7T COL25A1 D289N COL25A1 D430G COL25A1 D516E COL25A1 E437K COL25A1 E67K COL25A1 R218H COL25A1 R364W COL25A1_ENST00000399126 D289N COL25A1_ENST00000399126 D430G COL27A1 C1731R COL27A1 G1243R COL28A1 R200C COL28A1 R658H COL2A1 A416T COL2A1_ENST00000380518 A485T COL3A1 A341S COL3A1 C1197S COL3A1 G243E COL3A1 G420S COL3A1 G861S COL3A1 G879D COL3A1 R1434C COL3A1 R310Q COL4A1 G1186V COL4A1 R585C COL4A1 V1336I COL4A1_ENST00000375815 G829V COL4A1_ENST00000375815 V979I COL4A2 G413R COL4A3 C1551R COL4A4 P1315S COL4A4 R1677C COL4A4 R227P COL4A5 G21E COL4A5 P1359S COL4A5 R1466C COL4A5 R1625H COL4A5 R1674Q COL4A6 G539E COL4A6 L549I COL4A6 Q1367R COL4A6 R416C COL5A1 D418N COL5A1 G760R COL5A1 K627M COL5A1 P463L COL5A1 P917L COL5A1 R193H COL5A1 S884F COL5A2 R1453Q COL5A3 A1096T COL5A3 E1708K COL5A3 E561D COL5A3 G1187S COL5A3 P176L COL5A3 R1474H COL6A2 A558V COL6A3 A611T COL6A3 A622V COL6A3 D2792N COL6A3 D598N COL6A3 E2803K COL6A3 G2311R COL6A3 Q788R COL6A3 R1064W COL6A3 R1096C COL6A3 R1727W COL6A3 R2420W COL6A3 S521L COL6A3 T525M COL6A3_ENST00000392004 Q582R COL6A3_ENST00000392004 S315L COL6A5 D2275E COL6A5 E2501K COL6A5 F2153L COL6A5 K2152E COL6A5 K2152R COL6A5 P1632S COL6A5 R1972Q COL6A6 D920N COL6A6 D997N COL6A6 F84L COL6A6 G1467R COL6A6 G534R COL6A6 R658W COL6A6 R786C COL6A6 T1235A COL6A6 T932A COL6A6 T932M COL6A6_ENST00000358511 G1467R COL6A6_ENST00000358511 R658W COL6A6_ENST00000358511 T1235A COL6A6_ENST00000358511 T932A COL6A6_ENST00000358511 T932M COL7A1 E1466D COL7A1 R105C COL7A1 R1366W COL7A1 R1620Q COL7A1 R2424W COL7A1 R2485C COL8A2 G264E COL9A1 P389T COL9A1_ENST00000320755 P146T COLEC10 E217G COLEC10 V163M COLEC11 R78H COLEC11_ENST00000418971 A205T COLEC11_ENST00000418971 R95H COLEC12 Q172H COLEC12 Q266R COLEC12 T359M COLQ P140S COMMD2 L140F COMMD8 A175V COMP D475V COPA C254Y COPA P594L COPB1 R425C COPB2 G855R COPB2 G855W COPG D526G COPG R247C COPS6 A290T COPS7A G266V COQ5 G35W COQ5 R92H COQ9 P112S CORIN N343I CORIN P467R CORO1C P385L CORO1C P385S CORO1C T432R CORO1C W158L CORO2B R113Q CORO2B S396Y COX10 D308N COX10 L118F COX15 E115G COX15 L86I COX6A2 V87M COX6C R40H COX6C_ENST00000520468 R40H COX7B2 A41T CP E251K CP F393S CP R436Q CPA1 E283K CPA3 A56D CPA3 E34K CPA4 Q296K CPA6 R251Q CPA6 T374M CPAMD8 I133M CPAMD8 R605H CPB1 I394V CPB1 R237H CPB1 R291C CPB1 V6L CPD D697N CPE A284T CPE A72T CPE K347T CPEB1 D121H CPEB1_ENST00000568128 D196H CPEB3 D502N CPEB3 R571H CPLX4 D121Y CPN2 S321P CPN2 T350M CPNE1 R389C CPNE4 N279I CPNE6 V505M CPNE7 A472T CPNE7 P633L CPNE9 A486T CPNE9 R530C CPNE9 V459I CPO K273N CPO K273R CPOX L85V CPS1 A1180T CPS1 L94P CPS1 R1453Q CPS1 S1203L CPS1 S1203P CPS1 V221L CPS1_ENST00000430249 A1186T CPS1_ENST00000430249 L100P CPS1_ENST00000430249 S1209L CPS1_ENST00000430249 S1209P CPSF2 I4V CPSF3 D578N CPSF6 S430L CPSF6_ENST00000435070 S430L CPSF7 Q27H CPT1B A708T CPT1B R285H CPVL I151F CPXCR1 R206C CPXM1 R146W CPXM1 R662C CPXM2 D315E CPXM2 R272C CR1 F1608L CR1 I1799V CR1 M1758T CR1 R1392H CR1_ENST00000367049 F2058L CR1_ENST00000367049 I2249V CR1_ENST00000367049 M2208T CR1_ENST00000367049 R1842H CR2 A1025V CR2 T551M CRABP2 R60C CRABP2 R60H CRADD R168W CRAMP1L P937L CRAMP1L R213H CRAMP1L R218H CRAT A481P CRB1 A483T CRB1 A593T CRB1 F630V CRB1 G1103R CRB1 T745M CRB2 P999L CRBN T119A CREB3L4 C153Y CREB5 P374L CREB5 R152L CREBBP A1824T CREBBP A254T CREBBP D1435E CREBBP D1435G CREBBP G1411E CREBBP G2229S CREBBP H1487Y CREBBP I1483S CREBBP I1483T CREBBP I2101M CREBBP L1338S CREBBP L1499P CREBBP N984H CREBBP P688A CREBBP P858S CREBBP Q1079R CREBBP Q1500P CREBBP Q2199L CREBBP R1341L CREBBP R1446C CREBBP R1446H CREBBP R1446L CREBBP R1563G CREBBP R1664C CREBBP S1436N CREBBP S893L CREBBP S893P CREBBP V406L CREBBP W1502C CREBBP Y1482F CREBBP Y1482H CREBBP Y1503D CREBBP Y1503F CREBBP Y1503H CREG2 R279K CRELD1 G167R CRELD1 K84Q CRELD1_ENST00000383811 K84Q CREM R259H CRHBP E51D CRHR1 R66W CRHR1 T303M CRHR2 R399Q CRIM1 N474D CRIM1 Q846K CRIM1 R831W CRIPAK A147T CRIPAK A44T CRIPAK C143R CRIPAK C174R CRIPAK H132D CRIPAK M153T CRIPAK M48V CRIPAK P111R CRIPAK P173R CRIPAK R154W CRIPAK V164A CRISPLD1 L35R CRISPLD1 Q477H CRISPLD1 R222W CRISPLD1 R6W CRISPLD1 W99R CRLF1 R119H CRLF2 F232C CRLF3 D210Y CRMP1 A199V CRMP1 A496T CRMP1 P584S CRNKL1 R553G CRNN T21M CROCC A704T CROCC E318K CROCC R918W CROCC S602R CROT F321I CROT H207R CROT K375E CROT M333V CRTAC1 D273N CRTAC1 E658K CRTAC1 R436L CRTAC1 R451C CRTAM G189V CRTAP T365I CRX A260T CRY1 D201Y CRY1 R236G CRYAB R123Q CRYBA4 R95Q CRYBB1 R92H CRYBG3 R615Q CRYGB R32C CRYGC E18K CRYZ G214S CS R183Q CSAD R444C CSAG1 R63M CSAG4 L11F CSAG4 L22F CSF1R A960T CSF1R G413S CSF1R L301F CSF1R L301S CSF1R N302D CSF1R P693H CSF1R V279M CSF1R Y61H CSF1R Y969C CSF1R Y969F CSF1R Y969H CSF1R Y969N CSF1R_ENST00000286301 A960T CSF1R_ENST00000286301 N302D CSF1R_ENST00000286301 V279M CSF1R_ENST00000286301 Y61H CSF2RA R84C CSF3R E480K CSF3R T717M CSGALNACT1 D219G CSGALNACT2 L362F CSGALNACT2 Q416K CSH2_ENST00000392886 M196I CSH2_ENST00000392886 R160G CSMD1 A409S CSMD1 E616K CSMD1 Q2270R CSMD1 T1464R CSMD1_ENST00000318252 A2406S CSMD1_ENST00000318252 A368T CSMD1_ENST00000318252 D2003N CSMD1_ENST00000318252 D453N CSMD1_ENST00000318252 K3192N CSMD1_ENST00000318252 P1763T CSMD1_ENST00000318252 Q3247L CSMD1_ENST00000318252 R1131H CSMD1_ENST00000318252 R412S CSMD1_ENST00000318252 S510Y CSMD1_ENST00000318252 T1314N CSMD1_ENST00000318252 T1776M CSMD1_ENST00000318252 V1513M CSMD1_ENST00000318252 V2610M CSMD1_ENST00000318252 V725I CSMD1_ENST00000537824 A2677S CSMD1_ENST00000537824 A639T CSMD1_ENST00000537824 D2274N CSMD1_ENST00000537824 D724N CSMD1_ENST00000537824 K3463N CSMD1_ENST00000537824 Q3518L CSMD1_ENST00000537824 R1076H CSMD1_ENST00000537824 R1402H CSMD1_ENST00000537824 R683S CSMD1_ENST00000537824 S781Y CSMD1_ENST00000537824 T1585N CSMD1_ENST00000537824 T2047M CSMD1_ENST00000537824 T267M CSMD1_ENST00000537824 V1784M CSMD1_ENST00000537824 V996I CSMD2 D795E CSMD2 E1334G CSMD2 G1058C CSMD2 G2540A CSMD2 P1815Q CSMD2 R1327H CSMD2 R2456Q CSMD2 R2846H CSMD2 R3157C CSMD2 S2060G CSMD2 S2530F CSMD2 T188M CSMD2 V1547I CSMD2 V1892L CSMD2 V2306I CSMD2 V733I CSMD2_ENST00000373381 E1374G CSMD2_ENST00000373381 G1098C CSMD2_ENST00000373381 S2100G CSMD2_ENST00000373381 V1587I CSMD3 A1527V CSMD3 A2358T CSMD3 D2079G CSMD3 D3058N CSMD3 D666N CSMD3 E1838D CSMD3 E392K CSMD3 E531D CSMD3 G1705C CSMD3 G3275W CSMD3 G3594V CSMD3 G910E CSMD3 L1676F CSMD3 L2512H CSMD3 L2512P CSMD3 N1961D CSMD3 N3621H CSMD3 N409D CSMD3 P1084Q CSMD3 P2402H CSMD3 R1529H CSMD3 R2231L CSMD3 R2231Q CSMD3 R2601L CSMD3 R2601Q CSMD3 R3359L CSMD3 T2021M CSMD3 T3328A CSMD3 T3328I CSMD3 T3448A CSMD3 T3448K CSMD3 V2959A CSMD3 V3423I CSMD3 V3694E CSMD3 V575A CSMD3_ENST00000343508 E491D CSMD3_ENST00000343508 G1665C CSMD3_ENST00000343508 L2472H CSMD3_ENST00000343508 L2472P CSMD3_ENST00000343508 N1921D CSMD3_ENST00000343508 N3581H CSMD3_ENST00000343508 R2191L CSMD3_ENST00000343508 R2191Q CSMD3_ENST00000343508 R2561Q CSMD3_ENST00000343508 R3319L CSMD3_ENST00000343508 T1981M CSMD3_ENST00000343508 T3288A CSMD3_ENST00000343508 T3288I CSMD3_ENST00000343508 T3408A CSMD3_ENST00000343508 V2919A CSMD3_ENST00000343508 V3383I CSMD3_ENST00000343508 V535A CSN3 P104T CSN3 R110L CSN3 R96W CSNK1A1 A257V CSNK1A1 D140A CSNK1A1L E10K CSNK1A1_ENST00000515768 A285V CSNK1A1_ENST00000515768 D140A CSNK1D S97C CSNK1D S97P CSNK1D_ENST00000314028 S97P CSNK1D_ENST00000392334 S97P CSNK1E G415R CSNK1E N172D CSNK1E R256L CSNK1E R98H CSNK1E_ENST00000400206 N172D CSNK1E_ENST00000400206 R98H CSNK1E_ENST00000403904 N172D CSNK1E_ENST00000403904 R98H CSNK1G2 R263W CSNK1G3 Q262H CSNK2A1 H236R CSNK2A1 K76N CSNK2A2_ENST00000262506 R230G CSPG4 E1665K CSPG4 G1502S CSPG4 R247L CSPG4 R502H CSPG4 V1197I CSPG5 R365Q CSPG5 R458H CSPP1 K1019R CSPP1 R118W CSPP1 R512Q CSRNP2 R184W CSRNP3 P474L CST2 F84L CST2 L101V CST4 T77A CSTA L38F CSTF2 P255L CSTF2T R316H CT45A5 L137V CT45A5 Q120R CT45A5 R139Q CT47B1 Q77R CT62 S36F CTAG2 P183L CTAG2_ENST00000247306 P183L CTBP2 A966G CTBP2 V426M CTCF E291G CTCF K365T CTCF M1I CTCF P378L CTCF R377C CTCF R377H CTCFL D317N CTCFL D58G CTCFL E423K CTCFL P23S CTDNEP1 E126K CTDNEP1 T12A CTDSPL2 R373W CTGF E231Q CTGF V303L CTH T308R CTH V186M CTIF G318R CTNNA1 D813G CTNNA1 S770L CTNNA2 E587K CTNNA2 E87V CTNNA2 R175H CTNNA2 R328C CTNNA2 V338M CTNNA2_ENST00000466387 A586T CTNNA2_ENST00000466387 A745V CTNNA2_ENST00000466387 E87V CTNNA2_ENST00000466387 N426K CTNNA2_ENST00000466387 R175H CTNNA2_ENST00000466387 R328C CTNNA2_ENST00000466387 R538Q CTNNA2_ENST00000466387 V338M CTNNA3 D387E CTNNA3 E281G CTNNA3 E281K CTNNA3 K855E CTNNA3 R336C CTNNA3 R469T CTNNA3 T552M CTNNA3_ENST00000433211 D387E CTNNA3_ENST00000433211 E281G CTNNA3_ENST00000433211 E281K CTNNA3_ENST00000433211 K855E CTNNA3_ENST00000433211 R469T CTNNA3_ENST00000433211 T552M CTNNAL1 A401E CTNNAL1 R264H CTNNB1 A13T CTNNB1 A20V CTNNB1 A21T CTNNB1 A39G CTNNB1 A39T CTNNB1 A43P CTNNB1 A43T CTNNB1 A43V CTNNB1 A5V CTNNB1 C619Y CTNNB1 D32A CTNNB1 D32E CTNNB1 D32G CTNNB1 D32H CTNNB1 D32N CTNNB1 D32V CTNNB1 D32Y CTNNB1 D56G CTNNB1 D56N CTNNB1 D58N CTNNB1 D58Y CTNNB1 D6G CTNNB1 E15G CTNNB1 E15K CTNNB1 E53G CTNNB1 E53K CTNNB1 E54K CTNNB1 E55G CTNNB1 E55K CTNNB1 E65G CTNNB1 G245A CTNNB1 G245C CTNNB1 G245V CTNNB1 G34E CTNNB1 G34R CTNNB1 G34V CTNNB1 G38D CTNNB1 G38P CTNNB1 G48D CTNNB1 G48V CTNNB1 G50D CTNNB1 G50S CTNNB1 H36P CTNNB1 H36R CTNNB1 H36Y CTNNB1 I198T CTNNB1 I35K CTNNB1 I35S CTNNB1 I35T CTNNB1 K335I CTNNB1 K49E CTNNB1 K49R CTNNB1 L46P CTNNB1 M8I CTNNB1 N287S CTNNB1 N387K CTNNB1 N51D CTNNB1 N51S CTNNB1 P192S CTNNB1 P44A CTNNB1 P44L CTNNB1 P44S CTNNB1 P52L CTNNB1 Q61R CTNNB1 R486C CTNNB1 S23G CTNNB1 S23R CTNNB1 S29F CTNNB1 S33A CTNNB1 S33C CTNNB1 S33F CTNNB1 S33L CTNNB1 S33N CTNNB1 S33P CTNNB1 S33T CTNNB1 S33Y CTNNB1 S37A CTNNB1 S37C CTNNB1 S37F CTNNB1 S37P CTNNB1 S37Y CTNNB1 S45A CTNNB1 S45C CTNNB1 S45F CTNNB1 S45P CTNNB1 S45T CTNNB1 S45Y CTNNB1 S47G CTNNB1 S47N CTNNB1 S47T CTNNB1 S60P CTNNB1 T3S CTNNB1 T40A CTNNB1 T40I CTNNB1 T40S CTNNB1 T41A CTNNB1 T41I CTNNB1 T41N CTNNB1 T41P CTNNB1 T41S CTNNB1 T42I CTNNB1 T42R CTNNB1 T75A CTNNB1 V22A CTNNB1 V22G CTNNB1 V22I CTNNB1 V57A CTNNB1 V57M CTNNB1 W25L CTNNB1 W383G CTNNB1 W383R CTNNBL1 R29L CTNNBL1 R329H CTNNBL1 R38C CTNNBL1 R485C CTNNBL1 R522Q CTNND1 D898N CTNND1 E509K CTNND1 P361T CTNND2 A685V CTNND2 C910F CTNND2 K703R CTNND2 N1166K CTNND2 Q1175K CTR9 R664C CTR9 Y185C CTSG L248M CTSG R160L CTSH S97P CTSL1 D192G CTSL1 H36R CTSL1 V126M CTSL1 V298G CTSL2 K54N CTSO S249N CTSS Y132D CTSZ K284R CTTN T401M CTTNBP2 K1294R CTTNBP2 R1219C CTTNBP2 R164C CTTNBP2 S214P CTTNBP2NL E236Q CTTNBP2NL R174H CTTNBP2NL T611I CTTN_ENST00000301843 T401M CTTN_ENST00000376561 T364M CTXN3 I39F CUBN A2252V CUBN A2914V CUBN A3616T CUBN E304K CUBN I3189V CUBN N1307S CUBN R1775W CUBN R1810Q CUBN R520Q CUBN V2901I CUEDC2 D53N CUEDC2 R264L CUL1 D483N CUL1 E420V CUL1 E485K CUL2 A516V CUL3 K12N CUL4B R369Q CUL4B R91S CUL4B_ENST00000371322 R351Q CUL4B_ENST00000371322 R73S CUL7 R1222Q CUL9 A141T CUL9 P594L CUL9 R1348C CUL9 R1730C CUL9 R1730S CUL9 R1878C CUTC L140V CUTC P77L CUX1 L292F CUX1_ENST00000292538 L303F CUX1_ENST00000292538 R609C CUX2 A1427T CUX2 S152L CUZD1 D94G CUZD1 F144Y CUZD1 R355H CWC25 H13N CWC27 A295V CWF19L1 R399Q CWF19L1 T186M CWF19L2 K370T CWH43 H688N CWH43 L556I CWH43 Q300K CX3CR1 A351V CX3CR1_ENST00000358309 A383V CXCL3 A89T CXCL5 A41V CXCR1 R279H CXCR3 R167H CXCR5 D29N CXCR6 A277T CXCR7_ENST00000272928 E193K CXCR7_ENST00000272928 R161C CXCR7_ENST00000272928 R161H CXCR7_ENST00000272928 R251L CXCR7_ENST00000272928 R251Q CXCR7_ENST00000272928 R251W CXXC5 K285R CXorf21 G153D CXorf22 K485N CXorf22 S505L CXorf22 S505W CXorf22 T666S CXorf22 V611A CXorf22_ENST00000297866 K485N CXorf22_ENST00000297866 S505L CXorf22_ENST00000297866 T666S CXorf22_ENST00000297866 V611A CXorf23 R88G CXorf23_ENST00000379687 R523G CXorf26 S73F CXorf30 D616Y CXorf30_ENST00000378657 D22Y CXorf36_ENST00000398000 D204N CXorf38 E164G CXorf41 E9Q CXorf57 P315S CXorf57 R389Q CXorf58 F113L CXorf59 G64V CXorf59 R198M CXorf66 M18I CXorf67 A318V CYB5R4 L424P CYFIP1 P1235T CYFIP2_ENST00000318218 V745I CYFIP2_ENST00000442283 R500W CYLC1 E422G CYLC1 K396R CYLC1 S235P CYLC1 T211N CYLC1_ENST00000329312 E422G CYLC1_ENST00000329312 K396R CYLC1_ENST00000329312 S235P CYLC2 D216Y CYLC2 R5I CYLC2 R71C CYLD A289S CYLD E678G CYLD R397C CYP11A1 G86D CYP11B1 P363L CYP11B2 R123C CYP11B2 T326M CYP17A1 R496C CYP19A1 P8L CYP1A1 V482M CYP1A2 R356W CYP1A2 V483M CYP1B1 N453S CYP1B1 P321Q CYP20A1 S134F CYP21A2 C174Y CYP21A2 R103K CYP26B1 A266T CYP26B1 V479I CYP27B1 G290E CYP27B1 R252C CYP27C1 R316H CYP2A13 R485Q CYP2A13 T258M CYP2A6 L219P CYP2A6 R203S CYP2A6 R461H CYP2A7 A117V CYP2A7 L128R CYP2A7 R161Q CYP2A7 R381Q CYP2B6 F202L CYP2C18 M443I CYP2C18 R139G CYP2C18 R478H CYP2C18 S115G CYP2C19 R442H CYP2C19 S180F CYP2C8 R186Q CYP2C9 E444G CYP2D6 G42R CYP2D6 R278L CYP2D6 R329H CYP2D6_ENST00000360608 R329L CYP2D6_ENST00000360608 R380H CYP2F1 C267R CYP2F1 R433H CYP2S1 A265T CYP39A1 R462Q CYP3A4 F213I CYP3A4 M9V CYP3A43 A337T CYP3A43 M358L CYP3A7 R162Q CYP4A11 V185F CYP4A22 A313D CYP4A22 P157L CYP4A22 R505H CYP4B1 E433D CYP4F11 A187T CYP4F11 S462L CYP4F12 A259T CYP4F12 K177E CYP4F12 R276H CYP4F12 T89M CYP4F2 A483G CYP4F2 R149Q CYP4F2 R274W CYP4F2 R276H CYP4F2 R49W CYP4F22 M199I CYP4F22 P386H CYP4F3 F84L CYP4F8 R149C CYP4X1 H233R CYP51A1 R452H CYP7A1 A221E CYP7B1 R310Q CYP7B1 T426A CYP8B1 R28C CYP8B1 V437I CYSLTR1 I123T CYSLTR2 K327M CYSLTR2 K327N CYSLTR2 K327R CYSLTR2 T272M CYTH1 A386T CYTH3 N67S CYTL1 T129M DAAM1 F972L DAAM2 F956L DAAM2 R597H DAAM2 R989C DAAM2 T482M DAB1 E511D DAB1 R429H DAB1 S519G DAB2 D244N DAB2 S382P DACH1 T532I DACH2 G556V DACH2 P372Q DACH2 R195H DACH2 R539C DACH2_ENST00000373131 G543V DACH2_ENST00000373131 P359Q DACH2_ENST00000373131 R182H DACH2_ENST00000373131 R526C DACT1 P381Q DACT1 V578I DACT1 V810F DAGLB E623K DAK R397Q DAK R48W DALRD3 N36S DALRD3_ENST00000341949 N203S DAO G12R DAO R199W DAO R286H DAOA T148N DAP3 S215G DAPK1 D525N DAPK1 E847V DAPK1 I848V DAPK1 P721S DAPK1 Q1149R DAPK1 R1259W DAPK1_ENST00000408954 D525N DAPK1_ENST00000408954 E847V DAPK1_ENST00000408954 I848V DAPK1_ENST00000408954 Q1149R DAPK1_ENST00000408954 R1259W DAPK3 D161N DAPK3 P216S DAPP1_ENST00000512369 H43N DARC_ENST00000368121 F83S DARS2 D436H DAXX E448G DAXX E465G DAXX Q551R DAXX R371W DAXX R48G DAZAP2 N146S DBC1 A437T DBC1 P712L DBC1 V216I DBC1 V562A DBF4B_ENST00000315005 S254Y DBH R326I DBH V276I DBN1 E278G DBN1_ENST00000292385 E280G DBX1 S117F DBX2 L225I DCAF12L1 L443R DCAF12L1 R132H DCAF12L1 R354W DCAF12L1 S281F DCAF12L2 E156G DCAF12L2 L391P DCAF12L2 P134L DCAF12L2 P334L DCAF12L2 R137W DCAF12L2 R263H DCAF12L2 R337C DCAF12L2 R337H DCAF12L2 R378H DCAF12L2 V418L DCAF12L2 W196L DCAF4 S291P DCAF4L1 A189V DCAF4L1 A316T DCAF4L1 A79T DCAF4L1 R125Q DCAF4L1 V329M DCAF4L2 A150V DCAF4L2 A79V DCAF4L2 E324K DCAF4L2 L349F DCAF4L2 R125W DCAF4L2 R172C DCAF4L2 R254C DCAF4L2 R344H DCAF4L2 R371H DCAF4L2 R376Q DCAF4L2 R76C DCAF4L2 S129Y DCAF4L2 S342R DCAF4L2 T103N DCAF4L2 T338M DCAF4L2 V147L DCAF4L2 V213M DCAF4L2 V329M DCAF6 M742I DCAF6 M742V DCAF7 A330T DCAF8L1 E588K DCAF8L1 E80K DCAF8L1 K429R DCAF8L1 N272I DCAF8L1 V396A DCAF8L2 P597T DCBLD1 G230W DCC A25V DCC F1039L DCC F1039S DCC G55E DCC R443Q DCC R603C DCC V329F DCD D107G DCDC1 A212T DCDC1 T239M DCDC1 Y46N DCDC2 R257H DCDC5_ENST00000339794 G501W DCDC5_ENST00000339794 R42W DCHS1 D552N DCHS1 V1741G DCHS1 V2586M DCHS2 D1083E DCHS2 F2149L DCHS2 P1310S DCHS2 Q1585H DCHS2 S1205L DCLK1 R326C DCLK1 R510H DCLK1 R93Q DCLK1_ENST00000255448 R326C DCLK2 E594G DCLK2 E594K DCLK2 R153H DCLK2 S532Y DCLK2_ENST00000302176 E611G DCLK2_ENST00000302176 R153H DCLK2_ENST00000302176 S549Y DCLK3 E422G DCLK3 E422K DCLK3 R554C DCLK3 R592W DCLK3 S10I DCLRE1A H764R DCLRE1B R259L DCN Q217R DCP1B Q252H DCPS E300K DCST1 D418N DCT G305D DCT L322V DCT T31M DCTN4 S323I DCTN5 Q162R DCT_ENST00000446125 T31M DCUN1D3 Q188R DCUN1D5 E18G DCX R140H DCX R259C DCX T111N DCX_ENST00000356915 R178C DDAH1 G270R DDB1 E1002K DDB1 E535G DDB1 P721L DDB1 R1138Q DDB2 P290S DDHD2 F534L DDHD2 F557L DDHD2 R658H DDI1 I384S DDI1 Q270K DDI1 R275Q DDI1 R301H DDI1_ENST00000302259 Q270K DDI1_ENST00000302259 R275Q DDI1_ENST00000302259 R301H DDI2 K289N DDIT3 D32Y DDN E607G DDO V259I DDR1 G234D DDR1_ENST00000324771 R522H DDR1_ENST00000324771 R607Q DDR1_ENST00000376575 R522H DDR2 D854N DDR2 G104V DDR2 P815L DDR2 R105C DDR2_ENST00000367922 D854N DDR2_ENST00000367922 G104V DDR2_ENST00000367922 K616N DDR2_ENST00000367922 R105C DDR2_ENST00000367922 R332Q DDR2_ENST00000367922 R668C DDX1 E420K DDX11 A607P DDX11 E201K DDX11 G404C DDX11 R167T DDX11 R213G DDX11 V33A DDX11 V33G DDX11_ENST00000407793 A607P DDX11_ENST00000407793 E201K DDX11_ENST00000407793 G404C DDX11_ENST00000407793 V33A DDX12 G698S DDX12 P370S DDX12 R729H DDX12 S409R DDX12_ENST00000432996 D680A DDX12_ENST00000432996 G697V DDX12_ENST00000432996 M473T DDX12_ENST00000432996 N669T DDX12_ENST00000432996 P368S DDX12_ENST00000432996 S700P DDX17 D609N DDX18 G41R DDX20 A351S DDX20 E248K DDX20 E543K DDX23 D33G DDX23 R374C DDX23 S39P DDX24 L421F DDX27 D96G DDX27 R478C DDX28 E467D DDX31 K372N DDX31 R590W DDX39A R134H DDX3X D329V DDX3X D354G DDX3X D354V DDX3X D455Y DDX3X F357S DDX3X G530A DDX3X H527Y DDX3X I214S DDX3X M330K DDX3X P568L DDX3X R294T DDX3X R326C DDX3X R376S DDX3X R475C DDX3X R534S DDX3X R548M DDX3X S410F DDX3X S412F DDX3Y V494A DDX4 P48S DDX41_ENST00000507955 E122K DDX42 M671I DDX43 D396G DDX43 R583G DDX5 G533C DDX5 Y535C DDX5 Y535H DDX52 K73N DDX53 T561A DDX56 E167K DDX58 E758K DDX59 E288G DDX59 I381T DDX59_ENST00000331314 E288G DDX5_ENST00000540698 G533C DDX5_ENST00000540698 Y535H DDX6 R362Q DDX6 T255M DDX60 S102C DDX60L S647L DDX60_ENST00000393743 R737Q DDX60_ENST00000393743 S102C DEFA3 W90C DEFB104A T34I DEFB105B I4N DEFB112 V84M DEFB118 T91A DEFB119 T36M DEFB119_ENST00000376315 R48W DEFB129 P72S DEFB132 D86Y DEFB132 V7L DEFB136 F41L DEGS2 P281T DEK K348R DENND1A L596F DENND1B Q54E DENND2A E726G DENND2A E726K DENND2A S572Y DENND2C S412T DENND2C T287M DENND3 Y119D DENND4A P357H DENND4A R1202H DENND4A S597P DENND4A T155M DENND4A T1857A DENND4A_ENST00000443035 S597P DENND4A_ENST00000443035 T155M DENND4A_ENST00000443035 T1900A DENND4B F359L DENND4B R1319H DENND4B V49M DENND4B_ENST00000361217 R1431H DENND4C L161V DENND4C R1081Q DENND5A A325V DENND5A R848C DENND5B R1216C DEPDC1 I235T DEPDC1B R158G DEPDC1B V209I DEPDC5 E1018G DEPDC5 K118R DEPDC5 Y226N DEPDC5_ENST00000535622 E949G DEPDC5_ENST00000535622 K118R DEPDC5_ENST00000535622 Y226N DEPTOR K329N DERL1 S212N DES A237V DES F356I DES V459I DET1 A318V DET1 R329C DFFB E297D DFNB31 A823V DFNB31 S160L DGKB D528Y DGKB D592Y DGKB E638K DGKB P118T DGKB P568H DGKB R466H DGKB S13L DGKD R80Q DGKE E548K DGKE L99R DGKG E706K DGKG T372M DGKH R273C DGKH S1144G DGKH S1144N DGKI Q1051R DGKI R1006W DGKI R139Q DGKI R258Q DGKI_ENST00000288490 Q1051R DGKZ M138L DGKZ_ENST00000421244 M121L DGKZ_ENST00000454345 M310L DHDDS R159H DHDDS R159S DHFRL1 S77T DHRS12 M1I DHRS12_ENST00000280056 M1I DHRS2 A181V DHRS2 A272V DHRS2 R55H DHRS2_ENST00000344777 R55H DHRS4 A47V DHRS4 T102M DHRS4 T193N DHRS4L2 H89R DHRS7 M312I DHRS7 M312V DHTKD1 A16G DHTKD1 A783T DHTKD1 G566R DHTKD1 G810D DHTKD1 R163Q DHTKD1 R410Q DHTKD1 R417C DHTKD1 S845C DHTKD1 W145C DHX16 L408P DHX16_ENST00000376442 L408P DHX29 P520L DHX29 S529L DHX30 P668L DHX32 G111R DHX32 G654C DHX32 P209Q DHX32 P209R DHX33 Y333C DHX33 Y641S DHX34 I589T DHX34 L1115P DHX35 T225A DHX36 R196Q DHX36 R196W DHX36 Y197C DHX37 R249W DHX40 A681T DHX40 R620Q DHX57 A474V DHX57 S341Y DHX57 S462Y DHX8 R186Q DHX8 R365Q DHX9 V40G DIABLO T182N DIAPH1 A325V DIAPH2 A568V DIAPH2 E86G DIAPH2 K946R DIAPH2 L898P DIAPH2 P443L DIAPH2 R1075W DIAPH3 F997L DIAPH3 L845P DICER1 D1709N DICER1 E1813Q DICER1 N1741D DICER1 Q84E DICER1 R1703C DICER1 R790Q DICER1 S1747L DIDO1 R2199Q DIMT1L E85G DIO2 S85G DIP2B E294D DIP2B V1534I DIP2C I330V DIP2C R73C DIP2C V1264M DIRAS2 E102K DIRAS2 T39M DIRAS3 A100T DIS3 D268N DIS3 D488N DIS3L N517I DIS3L2 E473G DIS3L2 G249S DIS3L_ENST00000319212 N600I DISP1 D906Y DISP1 E1190Q DISP1 R763C DISP1 S1043L DISP1 S957L DKFZP434P1750 R350W DKK2 C127R DKK2 G65S DKK2 R112Q DKK2 R146Q DKK2 R230C DKK2 R230H DKK2 S222P DKK2 S222Y DKK2 T170A DKK2 V241I DKK4 R203Q DLC1 A350V DLC1 E222D DLC1 K237E DLC1 N251S DLC1 R1294C DLC1 R520L DLC1 S741T DLC1 S744T DLC1 V36A DLC1_ENST00000316609 A350V DLC1_ENST00000316609 E222D DLC1_ENST00000316609 K237E DLC1_ENST00000316609 N251S DLC1_ENST00000316609 R54C DLC1_ENST00000316609 V36A DLC1_ENST00000511869 K237E DLC1_ENST00000511869 R54C DLEC1 D215N DLEC1 P351L DLEC1 R872C DLEC1 V944I DLEC1_ENST00000346219 P351L DLEC1_ENST00000346219 V944I DLG2 V161I DLG2 V191I DLG2_ENST00000280241 V200I DLG2_ENST00000376104 V266I DLG2_ENST00000418306 V110I DLG3 D699N DLG3 R427H DLG3_ENST00000374355 D394N DLG4 R356Q DLG4_ENST00000302955 R310Q DLG5 V706M DLGAP1 T636M DLGAP1 V58M DLGAP2 R659Q DLGAP2 V278M DLGAP2_ENST00000356067 A272V DLGAP2_ENST00000356067 P227L DLGAP2_ENST00000356067 R637Q DLGAP2_ENST00000356067 V256M DLGAP4 R291W DLGAP5 C381Y DLK1 A249V DLK2 R219H DLL1 P224L DLL3 D318H DLL3 G325C DLX4 P120L DLX5 R167H DLX6 G212C DMBT1 S1809R DMBT1 S2263L DMBT1_ENST00000368909 E2391K DMBT1_ENST00000368909 S1809R DMBT1_ENST00000368909 S2263L DMBT1_ENST00000368915 R2107H DMBT1_ENST00000368915 S1938R DMBT1_ENST00000368915 S2392L DMBX1 A372V DMD A526V DMD R1066H DMD R1106C DMD R64H DMD R730Q DMD R735H DMD T91M DMD_ENST00000357033 K1772N DMD_ENST00000378677 A2982V DMD_ENST00000378677 A830T DMD_ENST00000378677 D906E DMD_ENST00000378677 K1768N DMD_ENST00000378677 R3186Q DMD_ENST00000378677 T2547M DMD_ENST00000378682 A1645V DMD_ENST00000378682 K431N DMD_ENST00000378682 R1849Q DMD_ENST00000378687 A2982V DMD_ENST00000378687 A830T DMD_ENST00000378687 D906E DMD_ENST00000378687 E1040Q DMD_ENST00000378687 K1768N DMD_ENST00000378687 L337M DMD_ENST00000378687 L893Q DMD_ENST00000378687 R1724H DMD_ENST00000378687 R2520H DMD_ENST00000378687 R3186Q DMD_ENST00000378687 R3191H DMD_ENST00000378687 R3522H DMD_ENST00000378687 R3562C DMD_ENST00000378687 T2547M DMD_ENST00000378723 R122Q DMGDH D708G DMKN A415V DMKN S276N DMKN V173F DMP1 E385K DMP1 W193C DMRT1 P229Q DMRT2_ENST00000302441 N301I DMRT2_ENST00000302441 R212H DMRT3 R428C DMRT3 V104A DMRT3 V418I DMRTB1 R194H DMTF1 P603T DMXL1 C1083F DMXL1 R1340W DMXL1 T2289M DMXL2 A838T DMXL2 F782L DMXL2 P1924S DNA2 Q271R DNA2 S316L DNA2L Q185R DNA2L S230L DNAAF1 L633S DNAH1 K2332N DNAH1 Y3510C DNAH10 R399Q DNAH10 R741W DNAH10 R855C DNAH10_ENST00000409039 A1616T DNAH10_ENST00000409039 E1432K DNAH10_ENST00000409039 R1037C DNAH10_ENST00000409039 R2744H DNAH10_ENST00000409039 R3645Q DNAH10_ENST00000409039 R3699H DNAH10_ENST00000409039 R581Q DNAH10_ENST00000409039 R923W DNAH10_ENST00000409039 S2203F DNAH10_ENST00000409039 T4065M DNAH10_same_name A208T DNAH10_same_name E24K DNAH10_same_name R1336H DNAH10_same_name R2237Q DNAH10_same_name R2291H DNAH10_same_name R2426H DNAH10_same_name S795F DNAH10_same_name T2657M DNAH11 A1281V DNAH11 E1522G DNAH11 K3887R DNAH11 K4003E DNAH11 R1562Q DNAH11 R2047H DNAH11 S2452L DNAH11 V1381I DNAH11 V848M DNAH12 R1207C DNAH12 W115L DNAH12L W115L DNAH14_ENST00000430092 R3234C DNAH14_ENST00000430092 S3858Y DNAH14_ENST00000430092 V1377G DNAH17 A4194V DNAH17 C3237Y DNAH17 F2711L DNAH17 R1318G DNAH17 R1516H DNAH17 R1919W DNAH17 R3750W DNAH17 R488H DNAH17 V4195A DNAH1_ENST00000420323 K2332N DNAH1_ENST00000420323 Y3446C DNAH2 A3376T DNAH2 E2307G DNAH2 F3317L DNAH2 V678I DNAH3 A1526T DNAH3 A2694V DNAH3 A3011T DNAH3 D2355N DNAH3 H1879Q DNAH3 M2246V DNAH3 R3077C DNAH3 S1608P DNAH3 T268M DNAH3 T669M DNAH3_ENST00000261383 A2694V DNAH3_ENST00000261383 A3011T DNAH3_ENST00000261383 D2355N DNAH3_ENST00000261383 H1879Q DNAH3_ENST00000261383 R3077C DNAH3_ENST00000261383 S1608P DNAH3_ENST00000261383 T268M DNAH3_ENST00000261383 T669M DNAH5 E4026K DNAH5 E54K DNAH5 G2710C DNAH5 H1691N DNAH5 K1104N DNAH5 K1406N DNAH5 R224Q DNAH5 R2909H DNAH5 R2943H DNAH5 R3096Q DNAH5 R3197Q DNAH5 R3197W DNAH5 R3743I DNAH5 R3767H DNAH5 R4592Q DNAH5 R529W DNAH5 R982H DNAH5 S2616G DNAH5 S2809L DNAH6 C1893Y DNAH6 P966T DNAH7 F3304C DNAH7 I2236M DNAH7 P2505T DNAH7 R2438C DNAH8 A1076D DNAH8 E821G DNAH8 F2298L DNAH8 G1445E DNAH8 K2467T DNAH8 M910I DNAH8 N1540I DNAH8 N2531S DNAH8 P11L DNAH8 Q2843K DNAH8 Q2843R DNAH8 R1085Q DNAH8 R2232H DNAH8 R2807Q DNAH8 T2226M DNAH8 V1157L DNAH8 Y1829C DNAH8_ENST00000359357 A1076D DNAH8_ENST00000359357 E821G DNAH8_ENST00000359357 F2298L DNAH8_ENST00000359357 K2467T DNAH8_ENST00000359357 N1540I DNAH8_ENST00000359357 N2531S DNAH8_ENST00000359357 P11L DNAH8_ENST00000359357 Q2843K DNAH8_ENST00000359357 Q2843R DNAH8_ENST00000359357 R2807Q DNAH8_ENST00000359357 V1157L DNAH8_ENST00000359357 Y1829C DNAH9 D1547N DNAH9 D3868Y DNAH9 G4212R DNAH9 L1016R DNAH9 P935L DNAH9 R2072C DNAH9 R2565Q DNAH9 R2965C DNAH9 R771H DNAH9 R803I DNAH9 S2993R DNAI2 G15R DNAI2 G15V DNAJA4 P152L DNAJA4_ENST00000446172 P125L DNAJB11 T120A DNAJB12_ENST00000338820 V15G DNAJB5 R164C DNAJB7 H110R DNAJC10 D727G DNAJC11 V465A DNAJC13 R899C DNAJC13_ENST00000260818 A462T DNAJC13_ENST00000260818 R1516C DNAJC14 P81S DNAJC14 S57C DNAJC16 M536V DNAJC18 D17G DNAJC2 K583N DNAJC24 E61K DNAJC28 T197M DNAJC5 R36W DNAJC5B A67T DNAJC5B E22K DNAJC6 A623G DNAJC6 E379G DNAJC7 L208P DNAJC7_ENST00000457167 L218P DNAJC9-AS1 G22E DNAPTP6 E123K DNASE1L3 G82R DNASE1L3 G82S DNASE2B A98T DNASE2B R62Q DNASE2B_ENST00000370665 A306T DNER E146K DNER T172M DNHD1 R2222H DNM1 A251T DNM1 V659L DNM1_ENST00000341179 A251T DNM3 L73R DNM3 R808H DNM3 V129M DNMBP R1154Q DNMBP V17I DNMT1 D1347N DNMT1 E1531Q DNMT1 E432K DNMT1 R958H DNMT1 S1382L DNMT3A A741V DNMT3A A910V DNMT3A E30A DNMT3A F414L DNMT3A F731L DNMT3A F752L DNMT3A F909C DNMT3A G543A DNMT3A G543C DNMT3A G550R DNMT3A G699D DNMT3A G890D DNMT3A K468R DNMT3A K829R DNMT3A L373P DNMT3A M880V DNMT3A N501S DNMT3A P718L DNMT3A P799R DNMT3A P904L DNMT3A R635W DNMT3A R729Q DNMT3A R729W DNMT3A R736H DNMT3A R749C DNMT3A R771Q DNMT3A R792H DNMT3A R803S DNMT3A R882C DNMT3A R882H DNMT3A R882P DNMT3A R882S DNMT3A S714C DNMT3A T503A DNMT3A T834I DNMT3A V636M DNMT3A W581R DNMT3A W795C DNMT3A W893S DNMT3A Y660C DNMT3A Y724C DNMT3A Y735C DNMT3A_ENST00000380746 F225L DNMT3A_ENST00000380746 R693H DNMT3B R92W DNTT R411H DNTTIP2 E282K DOC2A A65V DOCK1 D1665Y DOCK1 E1098G DOCK1 E1098V DOCK1 E1542K DOCK1 E843K DOCK1 K535E DOCK1 K535M DOCK1 P1850S DOCK1 S1250L DOCK1 V1201A DOCK1 V1201I DOCK10 A1532V DOCK10 A1828V DOCK10 R1962L DOCK10 R1962W DOCK10_ENST00000373702 A335V DOCK10_ENST00000373702 A72V DOCK10_ENST00000373702 R471L DOCK10_ENST00000373702 R471W DOCK11 R237H DOCK2 A1740T DOCK2 E1616V DOCK2 G170R DOCK2 K1058T DOCK2 L1097R DOCK2 R1696W DOCK2 S776F DOCK2 T93M DOCK2 V1175M DOCK2 V1485L DOCK3_ENST00000266037 C550S DOCK3_ENST00000266037 F236L DOCK3_ENST00000266037 F756L DOCK3_ENST00000266037 L610P DOCK3_ENST00000266037 Q597H DOCK3_ENST00000266037 R1183C DOCK3_ENST00000266037 R1623Q DOCK3_ENST00000266037 R1954Q DOCK3_ENST00000266037 R932W DOCK3_ENST00000266037 S791Y DOCK3_ENST00000266037 V805L DOCK4 D98N DOCK4 I850M DOCK4 T1114R DOCK4 T610A DOCK4 V758M DOCK5 E177K DOCK5 E84K DOCK5 I81V DOCK5 N850S DOCK5 P1447A DOCK6 P1926S DOCK6 R1967Q DOCK7 R118G DOCK8 D768G DOCK8 D768Y DOCK8 L994F DOCK8 R1320Q DOCK8_ENST00000453981 D836G DOCK8_ENST00000453981 L1062F DOCK8_ENST00000453981 R1388Q DOK1 G464R DOK2 R200W DOK2 R24C DOK3_ENST00000312943 L289F DOK3_ENST00000312943 L289R DOK5 R274W DOK5 R295Q DOK5 T191A DOK6 A267T DOK6 A267V DOK6 S262Y DONSON D372G DOPEY1 D1155G DOPEY1 H2141Y DOPEY1 R66C DOPEY1 T780A DOPEY2 W881C DOPEY2 Y2048S DOT1L G821A DOT1L Q537E DOT1L_ENST00000398665 G821A DOT1L_ENST00000398665 Q537E DPAGT1 F141S DPAGT1 M9I DPAGT1 R156H DPCD R95C DPCR1 T36S DPCR1_ENST00000450344 R138C DPCR1_ENST00000462446 R138C DPEP1 R130W DPEP1 V11L DPEP2 R110H DPEP3 R262S DPF2 P222L DPF3 R122C DPF3 R79H DPF3_ENST00000541685 R123C DPP10 L735P DPP10 M355T DPP10 M355V DPP10 R551Q DPP10 S145L DPP10 S238P DPP10 V172I DPP10 V408M DPP10 V666M DPP10_ENST00000410059 L742P DPP10_ENST00000410059 M362V DPP10_ENST00000410059 R558Q DPP10_ENST00000410059 S152L DPP10_ENST00000410059 S245P DPP10_ENST00000410059 V179I DPP10_ENST00000410059 V415M DPP10_ENST00000410059 V673M DPP3 Q145H DPP3 R490W DPP6 A253T DPP6 D71N DPP6 D728N DPP6 G205W DPP8 G149R DPPA2 G61C DPPA2 H244Y DPPA2 K200R DPPA3 E20K DPPA3 E35K DPY19L1 F378L DPY19L2 R514C DPY19L3 A400T DPY19L3 L561P DPY19L4 R209S DPY19L4 R613I DPYD C671G DPYD N457Y DPYD R410Q DPYD R561Q DPYD R867L DPYD S966Y DPYD V335M DPYS A224S DPYSL2 A193T DPYSL3 D71N DPYSL4 A382V DPYSL5 R444C DRD1 R23C DRD2 S364F DRD4 Q287P DRD5 D137G DRD5 D281N DRD5 F378V DRD5 I400M DRD5 S275R DRG1 R222H DROSHA R279C DROSHA T747M DRP2 A520V DRP2 D716N DRP2 V519A DSC1 D482G DSC1_ENST00000257198 D482G DSC2 K270E DSC2 R203C DSC2 R479H DSC2 R875Q DSC2_ENST00000251081 K270E DSC2_ENST00000251081 R479H DSC3 Q157R DSC3 R203C DSCAM E1512Q DSCAM E873G DSCAM L544F DSCAM N297K DSCAM P914T DSCAM R200W DSCAM R388C DSCAML1 P1175L DSCAML1 R1238S DSCAML1 R1820H DSCAML1 V130M DSCAML1 V1762A DSCAML1 V1762I DSCAML1 V179I DSCC1 E258K DSCC1_ENST00000313655 E258K DSCR4 R108G DSE F480S DSE G543E DSE P636S DSEL G5E DSEL K56R DSEL K970N DSEL L1071F DSEL R202Q DSEL R306H DSEL S701R DSG1 D31Y DSG1 I290V DSG1 N256S DSG1 S170Y DSG1 T220M DSG2 D509N DSG2 K275Q DSG3 A527T DSG3 E498K DSG3 G650V DSG3 S874Y DSG3 V538I DSG4 A601T DSG4 A601V DSG4 E966D DSG4 L11P DSG4 L310I DSG4 P509S DSG4 P523L DSG4 R967G DSG4_ENST00000359747 A601T DSG4_ENST00000359747 A601V DSG4_ENST00000359747 L11P DSG4_ENST00000359747 P509S DSG4_ENST00000359747 P523L DSG4_ENST00000359747 R986G DSP E527K DSP R451C DSPP D1143E DSPP E400G DSPP N1029D DSPP R354H DST D696G DST G1620C DST H1734R DST K597E DST L760P DST R22Q DST R689H DST R69G DSTN R21C DSTYK L335P DSTYK_ENST00000367162 L874P DST_ENST00000244364 D696G DST_ENST00000244364 E1393K DST_ENST00000244364 K597E DST_ENST00000244364 L760P DST_ENST00000244364 R22Q DST_ENST00000244364 R2769P DST_ENST00000244364 R69G DST_ENST00000244364 T2201A DST_ENST00000370754 K282R DST_ENST00000370754 R573G DST_ENST00000370765 D696G DST_ENST00000370765 G1620C DST_ENST00000370765 H1734R DST_ENST00000370765 K597E DST_ENST00000370765 L760P DST_ENST00000370765 R22Q DST_ENST00000370765 R69G DST_ENST00000370769 D1022G DST_ENST00000370769 E3807K DST_ENST00000370769 E5973Q DST_ENST00000370769 K923E DST_ENST00000370769 L1086P DST_ENST00000370769 Q6615L DST_ENST00000370769 R1015H DST_ENST00000370769 R395G DST_ENST00000370769 R5183P DST_ENST00000370769 T4615A DST_ENST00000370769 V5572F DTHD1 R497H DTHD1_ENST00000456874 R662H DTNA E374Q DTX1 C411Y DTX1 D122E DTX2 D118N DTX2 F244S DTX2 R365C DTX3 G301E DTX3L E79K DTX3L I350N DTX3L I350T DTX4 K145E DTX4_ENST00000227451 D98N DUOX1 C603R DUOX2 F880L DUOXA1 V431A DUS3L P125L DUSP1 V206A DUSP10 P168L DUSP19 S178P DUSP19 V180A DUSP2 T309A DUSP21 R167C DUSP21 R47C DUSP22 S95C DUSP22 V96M DUSP23 G119E DUSP27 A1063S DUSP27 E177K DUSP27 R1033Q DUSP27 R1043H DUSP27 R514M DUSP3 V122I DUSP6 S380F DUSP7 S345L DUSP7 S345P DUSP8 G23R DUSP9 N326S DUXA R105H DVL2 R246H DVL3 R216G DYM L202F DYNC1H1 L3761F DYNC1H1 R4638W DYNC1I1 E636K DYNC1I1 P77L DYNC1I1 R380W DYNC2H1 D174N DYNC2H1 G902R DYNC2H1_ENST00000398093 E65K DYNC2H1_ENST00000398093 G1729R DYNC2H1_ENST00000398093 Q1048R DYNC2H1_ENST00000398093 R1300Q DYRK1A E160K DYRK1A L164F DYRK1A R559C DYRK1A Y633C DYRK1B Q132R DYRK1B_ENST00000593685 Q132R DYRK2 R523H DYRK2 S471P DYRK4 E586G DYRK4 E586Q DYRK4 L623F DYRK4 R578C DYSF D974N DYSF G962R DYSF R1414L DYSF R462C DYSF R462H DYSF_ENST00000410020 D992N DYSF_ENST00000410020 G980R DYSF_ENST00000410020 R494H DZANK1 A350S DZANK1 A694S DZANK1 R410H DZIP1 K586T DZIP1 P687Q DZIP1 R576Q DZIP1L E750D DZIP1L R643W DZIP1_ENST00000347108 K605T DZIP3 I333T E2F1 R252C E2F2 L413P E2F2 R168H E2F5 L314P E2F6 R247G E2F7 C151R E2F7 S160G E2F7_ENST00000322886 C151R E2F7_ENST00000322886 S160G E4F1_ENST00000301727 A134T EAPP R155G EARS2 R190C EBAG9 E187K EBF1 A495T EBF1 D406N EBF2 P311T EBF2_ENST00000520164 A396T EBF2_ENST00000520164 P311T EBF3 D447N EBF3 T442M EBF3_ENST00000355311 D456N EBP A54V EBPL L189V EBPL Q196P ECE2 A408T ECE2 R438Q ECE2 S525N ECE2_ENST00000402825 A555T ECEL1 A455T ECEL1 P415L ECHDC2 R78C ECHS1 V11A ECM1 G524A ECM2 L12F ECM2 L12P ECM2_ENST00000444490 L12F ECM2_ENST00000444490 L12P ECOP A15V ECT2 E45G ECT2 P271L ECT2 P588S ECT2 T802A ECT2L R852Q EDA P118L EDAR C301Y EDARADD R208L EDC3 I222V EDC4 H1346N EDC4 P902L EDEM1 N198I EDG6 A296V EDG6 R228C EDIL3 Q187K EDIL3 T343M EDN1 E95D EDNRA R145C EDNRA R41C EDNRB L360R EDNRB L401V EDNRB P89L EDNRB R83H EDNRB T77M EDNRB_ENST00000377211 L491V EDNRB_ENST00000377211 P179L EEA1 I1195V EED K77R EED L196Q EEF1A1 G70A EEF1A1 R240H EEF1A2 A369T EEF1A2 Y418S EEF1B2 S43G EEF1D I377T EEF1D R477Q EEF1D R477W EEF2K R111C EEF2K S366F EEF2K T291A EEF2K_ENST00000263026 R111C EEF2K_ENST00000263026 S366F EEF2K_ENST00000263026 T291A EFCAB1 R54Q EFCAB4B L236P EFCAB4B_ENST00000440314 L236P EFCAB5 M238I EFCAB5 T1249M EFCAB6 R1207C EFCAB6 R379K EFCAB6 V1456I EFEMP1 G242R EFEMP1 R345W EFHA2 R316H EFHA2 R412C EFHA2 V462I EFHB_ENST00000295824 R726Q EFHC1 E357G EFHC1 G36C EFHC1 R281Q EFHC2 R133H EFHC2 V376A EFNA4 R196C EFNB1 R266C EFNB2 P261L EFR3A G390E EFR3A L782F EFR3A R161Q EFS R175W EFTUD1 A277T EFTUD2 A445T EFTUD2 D879N EFTUD2 M603I EFTUD2 M603T EFTUD2 R413C EFTUD2 R919C EGF P29S EGF Y1170H EGFL4 G348V EGFL6 L508F EGFLAM R368Q EGFLAM R800Q EGFLAM R802M EGFLAM_ENST00000354891 R368Q EGFLAM_ENST00000354891 R802M EGFR A1048V EGFR A289D EGFR A289T EGFR A289V EGFR A597P EGFR A698T EGFR A702S EGFR A722V EGFR A743S EGFR A743T EGFR A767V EGFR A839T EGFR A839V EGFR A859T EGFR A864T EGFR A871G EGFR A871T EGFR A871V EGFR C219R EGFR C326Y EGFR C620Y EGFR C775Y EGFR D1168N EGFR D256A EGFR D761G EGFR D761N EGFR D761Y EGFR D770N EGFR D807N EGFR D855N EGFR E114K EGFR E709A EGFR E709G EGFR E709H EGFR E709K EGFR E709V EGFR E711K EGFR E734D EGFR E734K EGFR E746K EGFR E746V EGFR E758G EGFR E804G EGFR E804K EGFR E829K EGFR E866G EGFR E866K EGFR E868G EGFR E884K EGFR F712L EGFR F712S EGFR F723L EGFR F795S EGFR F856L EGFR G598V EGFR G63R EGFR G719A EGFR G719C EGFR G719D EGFR G719S EGFR G721A EGFR G721S EGFR G724S EGFR G729E EGFR G735S EGFR G779F EGFR G779S EGFR G796A EGFR G796D EGFR G796S EGFR G810D EGFR G810S EGFR G857E EGFR G857R EGFR G863D EGFR G863S EGFR G873E EGFR G874S EGFR H773L EGFR H773R EGFR H773Y EGFR H805L EGFR H835L EGFR H850D EGFR H870R EGFR H870Y EGFR I706T EGFR I821T EGFR I91L EGFR K708E EGFR K708R EGFR K713F EGFR K745R EGFR K754E EGFR K754I EGFR K754R EGFR K806E EGFR K860I EGFR L62R EGFR L688P EGFR L692P EGFR L703P EGFR L703V EGFR L707S EGFR L718P EGFR L730F EGFR L747P EGFR L747S EGFR L792P EGFR L798H EGFR L799R EGFR L814P EGFR L833V EGFR L838P EGFR L858A EGFR L858M EGFR L858P EGFR L858Q EGFR L858R EGFR L861P EGFR L861Q EGFR L861R EGFR N700D EGFR N756S EGFR N842D EGFR P596L EGFR P691S EGFR P694L EGFR P733L EGFR P733S EGFR P741L EGFR P753L EGFR P753S EGFR P848L EGFR Q105H EGFR Q1164R EGFR Q849R EGFR R108K EGFR R222C EGFR R252C EGFR R324L EGFR R671C EGFR R677H EGFR R680G EGFR R748K EGFR R776C EGFR R776H EGFR R831C EGFR R831H EGFR R831L EGFR R832C EGFR R832H EGFR R836C EGFR R836S EGFR R841K EGFR S492R EGFR S695G EGFR S720F EGFR S720P EGFR S752P EGFR S768I EGFR S768N EGFR S784F EGFR S784P EGFR S811F EGFR S921R EGFR T263P EGFR T725A EGFR T725M EGFR T751I EGFR T783I EGFR T785I EGFR T790A EGFR T790M EGFR T847A EGFR T847I EGFR T854A EGFR V292L EGFR V323I EGFR V651M EGFR V689L EGFR V717A EGFR V738G EGFR V742A EGFR V765M EGFR V769L EGFR V769M EGFR V774M EGFR V786M EGFR V802A EGFR V802F EGFR V802I EGFR V819A EGFR V834A EGFR V834L EGFR V834M EGFR V843I EGFR V845A EGFR V851I EGFR V897I EGFR W731L EGFR Y727C EGFR Y727H EGFR Y801C EGFR Y801H EGFR Y813C EGFR_ENST00000344576 A289V EGFR_ENST00000344576 C219R EGFR_ENST00000344576 E114K EGFR_ENST00000344576 G598V EGFR_ENST00000344576 G63R EGFR_ENST00000344576 L62R EGFR_ENST00000344576 P596L EGFR_ENST00000344576 R108K EGFR_ENST00000344576 R222C EGFR_ENST00000344576 V323I EGLN1 A228T EGLN1 R344Q EGR2 E356K EGR2 H384N EGR2 R377H EHBP1 P429S EHBP1 R395G EHBP1 S477C EHBP1L1 R50H EHBP1L1 T164M EHD3 D117N EHD3 E44K EHD4 R130H EHHADH R318S EHHADH V480A EHMT1 G672E EHMT1 V249F EHMT1_ENST00000460843 V280F EID3 R185Q EIF2AK1 G202S EIF2AK2 L439V EIF2AK3 E300G EIF2AK3_ENST00000303236 D457G EIF2AK3_ENST00000303236 E300G EIF2AK3_ENST00000303236 M962V EIF2AK3_ENST00000303236 R541H EIF2AK4 E54K EIF2AK4 H939R EIF2AK4 I373V EIF2B2 L339P EIF2B3 K148E EIF2B3 V340A EIF2B5 S529G EIF2B5 T442M EIF2C1 R139Q EIF2C3 H817Y EIF2C3 R20I EIF2C3 R439Q EIF2C3 T358K EIF2D Y385C EIF2S1 P2S EIF2S3 R98W EIF3A R1061H EIF3B R294P EIF3D L105F EIF3E L205P EIF3L D524N EIF3L S217P EIF3M E80G EIF3M R201Q EIF4A1 S7F EIF4A1 T215K EIF4A2 V181A EIF4A2 V181L EIF4A3 I141L EIF4B R246C EIF4E1B K217E EIF4ENIF1 S349I EIF4G1 P696L EIF4G1 R650W EIF4G1 R893W EIF4G2 E736G EIF4G2 R714H EIF4G3 R669Q EIF4G3_ENST00000374937 R675Q EIF5A R26C EIF5B D1038N EIF5B Q900K ELANE Q194H ELAVL2 L215R ELAVL2 V346I ELAVL4 R362H ELAVL4 V175E ELAVL4_ENST00000357083 R365H ELAVL4_ENST00000357083 V192E ELF1 L51V ELF4 K291T ELF4 P360S ELFN1 R786W ELFN2 L311P ELK4_ENST00000289703 N383T ELL G426S ELL3 R320S ELMO1 A291V ELMO1 K312E ELMO3 G417S ELMOD1 L107M ELMOD1 R22C ELMOD1 R307C ELMOD1 V110I ELMOD2 T141M ELN G478R ELN G648R ELOVL1 R48H ELOVL2 Q238R ELOVL3 H252Y ELOVL4 I267V ELTD1 L515P EME1 D570H EME2 P130T EME2 Q301P EMID1 G305S EMID1 P243S EMILIN1 R27G EMILIN2 E598K EMILIN2 K759N EMILIN2 R651G EML1 D778N EML1 S314L EML4_ENST00000318522 V412A EML5 E1354D EMR1 A882T EMR1 M511I EMR2 R725Q EMR2 S674F EMR2 S75L EMR3 C335S EMR3 D190N EMR3 D261G EMR3 V617I ENAH R240W ENAM_ENST00000396073 R1078S ENAM_ENST00000396073 R373H ENAM_ENST00000396073 R763Q ENC1 T583A ENDOU F246L ENO2 I393M ENOX1 A300E ENOX1 N548H ENOX1 R315C ENOX1_ENST00000261488 A300E ENOX1_ENST00000261488 N548H ENOX1_ENST00000261488 R315C ENOX2 D176N ENOX2 R356W ENPEP P459T ENPP1 E854G ENPP1 R424Q ENPP1 R59C ENPP2 K357R ENPP2 N854D ENPP2 R373H ENPP2 S302L ENPP2_ENST00000522826 N827D ENPP3 W250R ENPP6 D245N ENPP6 E52D ENPP6 R82H ENPP7 A458T ENPP7 F373L ENPP7 R227Q ENPP7 R238C ENSA E30G ENSA_ENST00000339643 E34G ENSA_ENST00000503345 E34G ENSG00000091436 F170S ENSG00000091436 L60P ENSG00000103472 W375R ENSG00000113811 A89S ENSG00000121031 H1133R ENSG00000121031 K2258E ENSG00000121031 K2716E ENSG00000121031 M1879I ENSG00000121031 M1879V ENSG00000121031 M3845V ENSG00000121031 N1661I ENSG00000121031 N1661Y ENSG00000121031 R1446G ENSG00000121031 R2521Q ENSG00000121031 S3457P ENSG00000128422 R183Q ENSG00000148713 H140R ENSG00000161643 N133S ENSG00000161643 V132L ENSG00000161643 W65R ENSG00000162825 E3579G ENSG00000163612 H284R ENSG00000164236 A168V ENSG00000164236 A418V ENSG00000164236 R412Q ENSG00000164845 Q48R ENSG00000168038 K286T ENSG00000171101 P97S ENSG00000171841 S112W ENSG00000173780 Y471S ENSG00000174501 D626N ENSG00000174501 L1289I ENSG00000175267 R306C ENSG00000175267 V151I ENSG00000176900 M142I ENSG00000176900 M142V ENSG00000176900 P271Q ENSG00000176937 S114Y ENSG00000180715 D184G ENSG00000183704 E27K ENSG00000187600_ENST00000434431 R142Q ENSG00000187812 Q203R ENSG00000187812 R242Q ENSG00000187812 S190L ENSG00000188219 A82T ENSG00000188219 G973D ENSG00000188447 T70N ENSG00000188831 G106R ENSG00000188897 D279G ENSG00000188974 R88C ENSG00000188974 R88H ENSG00000188974 V436A ENSG00000196230 R105H ENSG00000196292 S221R ENSG00000196306 S50T ENSG00000197865 Q218P ENSG00000197865 T181M ENSG00000205454 D73N ENSG00000205631 G267S ENSG00000214394 C178R ENSG00000214944 R621Q ENSG00000215407 L66H ENSG00000221895 G311S ENSG00000226807 S190N ENSG00000227011 V110I ENSG00000230031 C184R ENSG00000232861 R394H ENSG00000236396 A274T ENSG00000236396 R51C ENSG00000250423 R523Q ENSG00000250423 S1136Y ENSG00000254381 D347N ENSG00000254381 L85F ENSG00000254381 M233V ENSG00000254381 R105H ENSG00000254381 R320H ENSG00000254381 R77H ENSG00000254381 S366T ENSG00000254381 V258A ENSG00000254809 A171V ENSG00000254809 D210V ENSG00000254809 R120C ENSG00000254809 R344H ENSG00000254809 S394Y ENSG00000254809 V86M ENSG00000255561 A105V ENSG00000257591 E216D ENTHD1 A560T ENTPD1 G76D ENTPD3 R479H ENTPD4 D76G ENTPD4 Y429C ENTPD7 E325K EOMES A322V EOMES E613G EP300 A1629V EP300 C1385F EP300 C1790G EP300 D1399N EP300 D1399Y EP300 E1013G EP300 E1014G EP300 K1570E EP300 K1570R EP300 P2221L EP300 R1599C EP300 R1627W EP300 R1680H EP300 R86Q EP300 S507G EP300 V390G EP400 A2487T EP400 A887T EP400 H1938P EP400 M1641I EP400 P2040L EP400 Q377R EP400 R1451W EP400 R1750C EP400 R2719K EP400 S49L EPAS1 E279V EPB41L1 A632T EPB41L1_ENST00000344237 A921T EPB41L2 P298S EPB41L2 R541H EPB41L2 T809I EPB41L3 G562R EPB41L3 K1071N EPB41L3 L145V EPB41L3 R129C EPB41L3 R425H EPB41L3 R432C EPB41L3 T1020M EPB41L3 V1002M EPB41L4A E568K EPB41L4A R246Q EPB41L4A R430H EPB41L4A R595Q EPB41L4A S614L EPB41L4A T68M EPB41L4A_ENST00000359109 E195K EPB41L4A_ENST00000359109 R222Q EPB41L4A_ENST00000359109 R57H EPB41L4A_ENST00000359109 R69Q EPB41L4B S481L EPB41L4B S481P EPB41L5 I42V EPC1 H732Y EPC1 N365S EPC1 R182G EPC1 W425G EPC2 E270G EPCAM C66Y EPDR1 P11L EPG5 D369N EPG5 L776P EPG5 R1454H EPG5 R2056Q EPG5 S188F EPHA1 S282N EPHA10 A157V EPHA10 E124K EPHA10 R139H EPHA10 R150H EPHA10 R775H EPHA10 V1007M EPHA1_ENST00000275815 S282N EPHA2 P147L EPHA3 A435S EPHA3 G187S EPHA3 L162P EPHA3 L642R EPHA3 N85S EPHA3 R728L EPHA3 R750Q EPHA3 R769H EPHA3 S229P EPHA3 S449F EPHA3 T166A EPHA3 T215M EPHA3 T393A EPHA3 T912S EPHA3 V226F EPHA3_ENST00000452448 G187S EPHA3_ENST00000452448 L162P EPHA3_ENST00000452448 N85S EPHA3_ENST00000452448 S229P EPHA3_ENST00000452448 T166A EPHA3_ENST00000452448 T393A EPHA4 E670G EPHA4 G370R EPHA4 L758V EPHA4 R728C EPHA4 S399P EPHA4_ENST00000281821 E670G EPHA4_ENST00000281821 G370R EPHA4_ENST00000281821 L758V EPHA4_ENST00000281821 R728C EPHA4_ENST00000281821 S399P EPHA5 E503G EPHA5 K131E EPHA5 L932F EPHA5 N1032S EPHA5 R191S EPHA5 R553Q EPHA5 R693H EPHA5 R896H EPHA5 S566P EPHA5 V475G EPHA6 E641K EPHA6 R174C EPHA6 R88C EPHA6 R88H EPHA6 V436A EPHA6_ENST00000389672 R182C EPHA6_ENST00000389672 V530A EPHA6_ENST00000502694 E127K EPHA7 E460K EPHA7 E482G EPHA7 E828K EPHA7 M738V EPHA7 R281C EPHA7 R281S EPHA7 R371W EPHA7 R880G EPHA7 S684I EPHA7 T566A EPHA8 G955R EPHA8 N123K EPHA8 R198L EPHA8 R367C EPHA8 T905P EPHA8 V97A EPHA8 V97I EPHA8 Y855N EPHA8_ENST00000374644 V97A EPHB1 A16V EPHB1 A176S EPHB1 A896T EPHB1 D771N EPHB1 N753S EPHB1 R364Q EPHB1 R368W EPHB1 R390C EPHB1 R79W EPHB1 S185P EPHB1 S670G EPHB1 S761P EPHB1 T387M EPHB1 V322I EPHB1 V760A EPHB1 V916M EPHB1_ENST00000398015 A16V EPHB1_ENST00000398015 A176S EPHB1_ENST00000398015 A896T EPHB1_ENST00000398015 D771N EPHB1_ENST00000398015 R364Q EPHB1_ENST00000398015 R368W EPHB1_ENST00000398015 R390C EPHB1_ENST00000398015 R79W EPHB1_ENST00000398015 S185P EPHB1_ENST00000398015 S670G EPHB1_ENST00000398015 S761P EPHB1_ENST00000398015 T387M EPHB1_ENST00000398015 V322I EPHB1_ENST00000398015 V760A EPHB1_ENST00000398015 V916M EPHB2 E615K EPHB2 R392H EPHB2 R79W EPHB3 R724Q EPHB4 P346L EPHB4 R312H EPHB4 R535W EPHB4 R866H EPHB4 R889Q EPHB4 T587A EPHB4 V689I EPHB6 K154R EPHB6 R719W EPHB6 S146F EPHB6 V491I EPHX2 A354V EPHX2 E444K EPHX2 T208M EPHX4 A308T EPM2AIP1 A267T EPO R177W EPOR E294Q EPPK1 D1670G EPPK1 D2378H EPPK1 G1307S EPPK1 R1785H EPPK1 R2239H EPPK1 R2364Q EPPK1 R636W EPS15L1 D618N EPS15L1 R430W EPS8 L149I EPS8 R434C EPS8L1 P410L EPS8L1_ENST00000245618 P283L EPS8L1_ENST00000310075 P392L EPX D343E EPX E174K EPX Q339E EPX R404C EPX S365L EPYC E275K EPYC E83K ERBB2 D1058A ERBB2 D769H ERBB2 D769Y ERBB2 E321G ERBB2 E914K ERBB2 E971G ERBB2 G776S ERBB2 G776V ERBB2 H878Y ERBB2 I767M ERBB2 L49H ERBB2 L755P ERBB2 L755S ERBB2 N319D ERBB2 N857S ERBB2 R678Q ERBB2 R896C ERBB2 R896H ERBB2 R970L ERBB2 R970W ERBB2 S310F ERBB2 T733I ERBB2 V777A ERBB2 V777L ERBB2 V842I ERBB2IP E170K ERBB2IP K560R ERBB2IP T1083P ERBB2IP V594A ERBB2IP V594I ERBB3 A232V ERBB3 D297Y ERBB3 M91I ERBB3 N101K ERBB3 S1046G ERBB3 V104M ERBB3 V438A ERBB3 V723A ERBB3_ENST00000267101 A232V ERBB3_ENST00000267101 A245V ERBB3_ENST00000267101 D297Y ERBB3_ENST00000267101 E332K ERBB3_ENST00000267101 E928G ERBB3_ENST00000267101 G216A ERBB3_ENST00000267101 G284R ERBB3_ENST00000267101 M60K ERBB3_ENST00000267101 M91I ERBB3_ENST00000267101 N101K ERBB3_ENST00000267101 S1046G ERBB3_ENST00000267101 S846I ERBB3_ENST00000267101 V104L ERBB3_ENST00000267101 V104M ERBB3_ENST00000267101 V438A ERBB3_ENST00000267101 V723A ERBB3_ENST00000411731 M60K ERBB3_ENST00000411731 M91I ERBB3_ENST00000411731 N101K ERBB3_ENST00000411731 V104M ERBB4 D595G ERBB4 E452K ERBB4 E563K ERBB4 E872K ERBB4 G936R ERBB4 K1002T ERBB4 K321N ERBB4 K935R ERBB4 L450P ERBB4 P700S ERBB4 R168W ERBB4 R306C ERBB4 S303F ERBB4 S341L ERBB4 T244A ERBB4 T475P ERBB4 V348M ERBB4 W638L ERC1 E296Q ERC2 A724V ERC2 R20H ERC2 R619Q ERC2_ENST00000288221 A724V ERC2_ENST00000288221 R20H ERC2_ENST00000288221 R619Q ERCC2_ENST00000391945 G47R ERCC3 I285T ERCC4 A583T ERCC5 D943G ERCC5 G78R ERCC5 I186T ERCC5 I186V ERCC5 L353M ERCC6 E1119G ERCC6 R1038G ERCC6 R1038T ERCC6 R652Q ERCC6 R735Q ERCC6 V780I ERCC6L P781L ERCC6L R505Q ERF W67G ERGIC1 S42P ERI2 S251L ERI2_ENST00000357967 I461R ERICH1 E193K ERMAP T98M ERN1 L474R ERN1 P336L ERN1_ENST00000433197 P336L ERN2_ENST00000256797 A350V ERN2_ENST00000256797 T731M ERO1L W155C ERO1LB D389N ERO1LB R286H ERP44 H95R ERP44 R148W ERRFI1 A421T ERRFI1 D166N ERVFRD-1 K27E ESCO1 I310V ESCO1 R248I ESCO1 R300Q ESCO2 P473S ESCO2 V438M ESF1 M218I ESM1 T150M ESR1 D538G ESR1 T563M ESR1 V533M ESR2 W80R ESR2_ENST00000554572 W80R ESRP1 R539Q ESRP1_ENST00000433389 R539Q ESRP2 E535G ESRP2_ENST00000473183 E535G ESRRB A315T ESRRB_ENST00000380887 A315T ESRRG K457N ESRRG S81L ESRRG T41M ESYT1 K671R ESYT1 R806W ETAA1 P17R ETAA1 R902G ETF1 E361Q ETF1 L126S ETF1 L82P ETNK1_ENST00000335148 T240A ETNK2 P10Q ETNK2 V291M ETNK2_ENST00000367202 P10Q ETNK2_ENST00000367202 V291M ETS1 A107T ETS1 L23F ETS1 M45V ETS1_ENST00000392668 G9E ETS1_ENST00000392668 M89V ETV1 F222S ETV1 V476M ETV1_ENST00000403527 F182S ETV1_ENST00000403527 V436M ETV3L A136V ETV3L K109N ETV3L V201I ETV3_ENST00000368192 G178D ETV5 A177T ETV5 Y445C ETV5_ENST00000306376 A177T ETV6 G375R ETV6 N228S ETV6 R105P ETV6 R369W ETV7 H285R ETV7 M274I EVC R678C EVC S835L EVC2 E1282D EVI2A F39L EVI2B S190R EVL P190L EVL P190T EVX2 A96T EXD2 D273G EXD2 I142V EXDL2 D148G EXDL2 I17V EXOC1 L75P EXOC1 P774S EXOC1 S464L EXOC3 R396Q EXOC3L4 T509M EXOC4 D643G EXOC4 R74H EXOC4 R87Q EXOC4 S220P EXOC4 S579G EXOC4 T485K EXOC6B G250C EXOC6B_ENST00000272427 R316Q EXOC7 R211P EXOSC2 E232G EXOSC9 E359K EXPH5 E26K EXPH5 F287L EXPH5 F287S EXPH5 G1663R EXPH5 P289L EXPH5 P289S EXPH5 Q1345L EXT1 C103Y EXT1 F729S EXT1 T568M EXT2 R417Q EXTL1 T526M EYA1 Q119L EYA1 R361L EYA1 S487L EYA1 S487P EYA1 T112A EYA2 T287M EYA2 V270A EYA3 K285N EYA4 D301N EYA4 L152P EYA4_ENST00000355167 D301N EYA4_ENST00000355167 L152P EYS A559D EYS E375D EYS H466N EYS N269H EYS R232I EYS_ENST00000370621 A559D EYS_ENST00000370621 E375D EYS_ENST00000370621 H466N EYS_ENST00000370621 N269H EYS_ENST00000370621 R232I EZH1 R686Q EZH2 A345T EZH2 A682G EZH2 D664E EZH2 D664Y EZH2 E169D EZH2 E249K EZH2 E725K EZH2 F145S EZH2 G159R EZH2 H297R EZH2 H694Y EZH2 I713V EZH2 K243E EZH2 L674V EZH2 N102S EZH2 N322S EZH2 N693K EZH2 P493S EZH2 P577L EZH2 Q328R EZH2 Q62R EZH2 R207Q EZH2 R288Q EZH2 R566H EZH2 R684C EZH2 R684H EZH2 R690C EZH2 R690H EZH2 T573I EZH2 V679M EZH2 Y646C EZH2 Y646F EZH2 Y646H EZH2 Y646N EZH2 Y646S EZH2_ENST00000350995 D620Y EZH2_ENST00000350995 E130D EZH2_ENST00000350995 E210K EZH2_ENST00000350995 E681K EZH2_ENST00000350995 I669V EZH2_ENST00000350995 K204E EZH2_ENST00000350995 Q284R EZH2_ENST00000350995 Q62R EZH2_ENST00000350995 R168Q EZH2_ENST00000350995 R640H EZH2_ENST00000350995 Y602F EZH2_ENST00000350995 Y602H EZH2_ENST00000350995 Y602N EZH2_ENST00000350995 Y602S EZR H554R EZR T25A EZR V333M F11R G120R F13A1 H460N F13A1 R172Q F13A1 T577M F13B T145A F13B V407A F2 R135H F2R H255R F2RL1 C226R F2RL2 C143F F2RL2 V196I F2RL3 R225H F5 L523P F5 R1580I F5 R345W F5 R647C F5 S775P F5 Y2149C F7 R364W F8 F1453S F8 S2269Y F8 W87R F8 Y365C F8_ENST00000360256 F1453S F8_ENST00000360256 S2269Y F8_ENST00000360256 W87R F8_ENST00000360256 Y365C F9 G421R F9 K109R F9 S156P FA2H R113Q FAAH2 R148S FABP1 G23S FABP2 D16H FADS2 F85L FADS2_ENST00000257261 F63L FADS3 A441T FAF2 R205G FAIM2 S72C FAM102A S181C FAM105B K233E FAM107A R132W FAM107B R237Q FAM107B R262W FAM108A1 L53S FAM109B W230R FAM110B A160V FAM110B L116M FAM110B P339L FAM111A R209C FAM111B A556V FAM113B R404C FAM114A2 R333I FAM115C C311R FAM116A R438H FAM116B D480N FAM117A S274F FAM118A R346H FAM118B D309N FAM118B R114H FAM120A W676G FAM120B A744V FAM120B S469P FAM120B T558P FAM120B V560G FAM120C F254L FAM122C N39Y FAM122C_ENST00000370784 N39Y FAM122C_ENST00000370784 T133A FAM123A P443L FAM123A R528C FAM123A T231S FAM123A_ENST00000515384 P562L FAM123B A29T FAM123B L99P FAM123B S45P FAM123B_ENST00000330258 L99P FAM123B_ENST00000330258 S45P FAM123C R197Q FAM123C R463Q FAM124A A77V FAM124A E484K FAM124B 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FGF13_ENST00000370603 Q33H FGF14 A236V FGF14_ENST00000376143 A231V FGF17 S59G FGF19 P176H FGF2 S288G FGF21 L174P FGF23 R176Q FGF23 R179Q FGF23 R245H FGF6 R125Q FGF6 R188W FGF6 R43H FGF7 I28T FGF8 E176K FGF8 T194M FGF9 R108Q FGFBP2 E204V FGFBP2 P90S FGFR1 G315E FGFR1 K656E FGFR1 N546K FGFR1 P150S FGFR1 S125L FGFR1 S125P FGFR1 S433F FGFR1 T141A FGFR1 V664L FGFR1_ENST00000335922 S117P FGFR1_ENST00000335922 T133A FGFR1_ENST00000425967 P61S FGFR1_ENST00000425967 S36P FGFR1_ENST00000425967 T52A FGFR1_ENST00000447712 K656E FGFR1_ENST00000447712 N546K FGFR1_ENST00000447712 S125P FGFR1_ENST00000447712 T141A FGFR2 A648T FGFR2 C382R FGFR2 D471N FGFR2 E475G FGFR2 E475K FGFR2 G305R FGFR2 H544Q FGFR2 I547T FGFR2 I642V FGFR2 K310R FGFR2 K659E FGFR2 K659N FGFR2 M640I FGFR2 M640V FGFR2 N549K FGFR2 P253L FGFR2 P253R FGFR2 R203C FGFR2 R203H FGFR2 R251L FGFR2 S252W FGFR2 T370A FGFR2 W290C FGFR2 Y375C FGFR2_ENST00000351936 A646T FGFR2_ENST00000351936 C382R FGFR2_ENST00000351936 E473G FGFR2_ENST00000351936 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E322K FGFR3 F384L FGFR3 G370C FGFR3 G380R FGFR3 G697C FGFR3 H643R FGFR3 K650E FGFR3 K650M FGFR3 K650N FGFR3 K650Q FGFR3 K650T FGFR3 R248C FGFR3 S249C FGFR3 S371C FGFR3 T79S FGFR3 Y373C FGFR3_ENST00000340107 H645R FGFR3_ENST00000340107 R248C FGFR3_ENST00000340107 S249C FGFR4 E641K FGFR4 P672T FGFR4 R80W FGFR4 S732N FGFR4_ENST00000292408 E681K FGFR4_ENST00000292408 R80W FGG C24S FGG R8W FGGY D438G FGGY_ENST00000303721 R109Q FGL1 R38C FH G389W FH T457A FH V416A FHAD1_ENST00000375999 S1321C FHDC1 C6R FHDC1 K1001E FHDC1 R254W FHL1 S244P FHOD1 R376C FHOD3 A1220V FHOD3 A225T FHOD3 E319D FHOD3 E638K FHOD3 K943M FHOD3 P794L FHOD3 R1353C FHOD3 R92Q FHOD3 S366L FIG4 G219V FIG4 R244H FIGN S619L FIGNL1 F440L FIGNL1 Y18F FILIP1 G618R FILIP1 R711W FILIP1L K779Q FILIP1L R321H FILIP1L T941M FILIP1L_ENST00000354552 R321H FKBP1C R56C FKBP4 Q398H FKBP5 S309L FKBP5 V37A FKBP5_ENST00000542713 V37A FKBP8 A222G FKBP9 D72N FKBP9 I274L FKBP9 N417S FKBP9 P157L FKBP9 P336Q FKBP9 Q147R FKBP9 R107H FKBP9 R161Q FKBP9 R219H FKBP9 R301Q FKBP9_ENST00000490776 I42L FKBP9_ENST00000490776 N185S FKBP9_ENST00000490776 P104Q FKBP9_ENST00000490776 R69Q FKTN D225G FLG A3279T FLG D1324N FLG D2936G FLG D3492G FLG E171D FLG G2833E FLG K150E FLG K39N FLG K39R FLG R1236C FLG R2086C FLG R2086H FLG R3240H FLG R3483G FLG R3892Q FLG R42W FLG R782Q FLG R912C FLG S1215R FLG S1539R FLG S2157L FLG S2188R FLG S3662T FLG S3850L FLG S522L FLG Y1517S FLG2 D1776N FLG2 F1815V FLG2 G1119E FLG2 G1119R FLG2 G2205V FLG2 H925L FLG2 Q796R FLG2 S743A FLG2 T1494P FLG2 T1580S FLG2 T2248A FLG2 V2117G FLG2 Y559H FLI1 D163N FLI1 G94E FLI1 R68W FLII E1159K FLII T178M FLJ14775 P23S FLJ16165 R209L FLJ16331 M146I FLJ16360 Q370E FLJ20584 W145L FLJ35880 D314E FLJ35880 E540K FLJ35880 F192L FLJ35880 K191E FLJ35880 K191R FLJ35880 Q77R FLJ35880 R11Q FLJ38451 I109M FLJ39369 A17T FLJ39369 R375W FLJ43860 S190N FLJ44216 P348L FLJ44216 R40C FLJ44216 T33I FLJ90650 A309T FLJ90650 R332W FLNA A666T FLNA D2581G FLNA G603W FLNA_ENST00000369850 A666T FLNA_ENST00000369850 D2581G FLNA_ENST00000369850 E245D FLNA_ENST00000369850 V591I FLNB G2457S FLNB R2156Q FLNB_ENST00000490882 G2488S FLNB_ENST00000490882 R2187Q FLNC A280T FLNC P955H FLNC R1543W FLOT1 I249T FLRT2 D197N FLRT2 D43N FLRT2 T380S FLT1 E943K FLT1 F490S FLT1 G727C FLT1 I674T FLT1 K427R FLT1 L422P FLT1 N212D FLT1 R781Q FLT1 V1300I FLT1_ENST00000541932 F490S FLT1_ENST00000541932 I674T FLT1_ENST00000541932 K427R FLT1_ENST00000541932 L422P FLT1_ENST00000541932 N212D FLT3 A627T FLT3 A680V FLT3 D324N FLT3 D835A FLT3 D835E FLT3 D835F FLT3 D835H FLT3 D835N FLT3 D835V FLT3 D835Y FLT3 D839G FLT3 F594I FLT3 F594L FLT3 F691L FLT3 G831E FLT3 I836F FLT3 I836H FLT3 I836M FLT3 K614N FLT3 M737V FLT3 M837P FLT3 N841K FLT3 R834Q FLT3 S451F FLT3 T167A FLT3 V194M FLT3 V491L FLT3 V557A FLT3 V571I FLT3 V592A FLT3 Y572C FLT3 Y599F FLT3 Y842C FLT3LG T134I FLT4 S1289G FLT4_ENST00000261937 S1289G FLT4_ENST00000261937 Y1333H FLVCR2 S158L FLYWCH1 A413T FLYWCH1 E271K FMN1_ENST00000334528 R229H FMN2 A1544T FMN2 G1084A FMN2 G1247R FMN2 G1856V FMN2 I1765S FMN2 P1099L FMN2 Q1767H FMN2 Q952R FMN2 R589Q FMN2 S236F FMN2 S890F FMNL1 A712S FMNL2 P245S FMNL2 R191C FMNL2 R859G FMNL2 R859K FMNL3 R216H FMNL3 R560Q FMNL3_ENST00000335154 R560Q FMO1 A138V FMO1 R291C FMO3 F510L FMO5 D287N FMO5 T365P FMO5 V343I FMO5_ENST00000441068 D439N FMO5_ENST00000441068 V343I FMR1 E616D FMR1 R606H FMR1NB R235Q FMR1NB S165L FN1 C386F FN1 G1240S FN1 N104S FN1 P300S FN1 P363S FN1 R1120P FN1 R440I FN1_ENST00000354785 G1240S FN1_ENST00000354785 N104S FN1_ENST00000354785 R440I FN3KRP S242L FNBP1L R65W FNBP1L_ENST00000271234 R65W FNBP1_ENST00000372416 S490N FNDC1 L509S FNDC1 P608L FNDC1 R1413Q FNDC1 R526C FNDC1 R652H FNDC1 R682H FNDC1 R698W FNDC1 R809W FNDC1 R921Q FNDC1 T1477A FNDC3A A648V FNDC3A S841G FNDC3B F425L FNDC3B P103S FNDC4 R189C FNDC7 T380A FNDC7_ENST00000370017 T613A FNIP1 R291C FNIP1 R291H FNIP2 E319V FNIP2_ENST00000264433 E993V FNIP2_ENST00000264433 P595L FNTB A305V FNTB G369S FOLH1 G508D FOLH1B L360P FOLR2 H236N FOLR2 R119H FOLR2 S200G FOS L76P FOS R143Q FOSB L67F FOSL2 E150K FOSL2 R199Q FOXA1 D226N FOXA1 I176M FOXA1 M253K FOXA1 M253R FOXA2 Q173K FOXC2 H122N FOXD4 A41E FOXD4L1 I155V FOXD4L1 P9L FOXF1 R113W FOXG1 A375T FOXG1 L460F FOXG1 R230H FOXG1 R281W FOXI1 S129L FOXI1 S170F FOXJ2 E437Q FOXJ2 G279R FOXK1 R354W FOXK2 R314C FOXL1 N89K FOXL2 C134W FOXL2 T76M FOXM1 S681P FOXN1 R69H FOXO3 A98V FOXO3 G86R FOXP1 R514C FOXP1 S448L FOXP2 M304I FOXP4 A403T FOXR1 T126P FOXR2 D248G FOXR2 P60T FOXRED1 F119L FOXRED2 G375R FOXRED2 P574L FOXS1 R81C FPGT D77Y FPR1 A117T FPR1 R123H FPR1 S181L FPR1 V101L FPR1 V127I FPR2 R238H FPR3 R238H FPR3 T287R FRAS1 M1812V FRAS1 R491W FRAS1 T2902A FRAS1_ENST00000264895 G2391S FRAS1_ENST00000264895 M1812V FRAS1_ENST00000264895 R491W FRAS1_ENST00000264895 T2902A FRAS1_ENST00000325942 D44N FRAS1_ENST00000325942 F1279L FRAS1_ENST00000325942 M1812V FRAS1_ENST00000325942 R491W FREM1 F1205L FREM1 V1522M FREM2 A159V FREM2 A2709T FREM2 G1284R FREM2 Q2077E FREM2 R1408C FREM2 R1515C FREM2 R2278C FREM2 R2625C FREM2 V1893I FREM2 V968A FRG1 L150S FRG1 N153D FRG1 S228I FRG1 S26N FRG1 T98S FRG1B A41T FRG1B A80P FRG1B A83T FRG1B D62V FRG1B E159D FRG1B H60Y FRG1B H8Y FRG1B I40T FRG1B I64T FRG1B I89V FRG1B K43N FRG1B L153P FRG1B L35F FRG1B L50P FRG1B L82S FRG1B M31T FRG1B N85D FRG1B P15S FRG1B P72Q FRG1B S101N FRG2C R215W FRK R484C FRK S145G FRMD3 P116S FRMD3 S509L FRMD4A D152Y FRMD4B A879V FRMD4B G202C FRMD4B_ENST00000398540 G256C FRMD5 M509I FRMD6 A148T FRMD6 D538Y FRMD6 R396W FRMD6 S418L FRMPD1 D1238Y FRMPD1 Q849E FRMPD1 R1556H FRMPD1 R543C FRMPD1 V278M FRMPD2 R727L FRMPD2 S858F FRMPD4 N527K FRMPD4_ENST00000429478 E296K FRMPD4_ENST00000429478 K68N FRMPD4_ENST00000429478 T663A FRS3 P373S FRS3 R121C FRS3 R93Q FRY D2489G FRY E1204K FRY E1974K FRY L604I FRY Q584H FRY Q584R FRY R1143C FRY R2210Q FRY T2194M FRY V1724A FRYL A2703T FRYL F2952S FRYL R395Q FRYL V2450G FRZB Y259C FSCB A632S FSCB K63N FSCB S775L FSCB S775P FSCB V714I FSCN3 A226E FSCN3 K104E FSCN3 R285C FSD2 L354S FSHB G83S FSHB T43N FSHR A499E FSHR F590L FSHR K146N FSHR L200V FSHR N47D FSHR V556A FSIP1 C402R FSIP2 L190I FSIP2_ENST00000343098 L190I FSTL1 T239M FSTL4 L805H FSTL5 D252Y FSTL5 K139T FSTL5 L92P FSTL5 R404C FSTL5 S18P FSTL5 S401R FSTL5 V581L FTCD V498M FTH1P14 P126R FTHL17 D46N FTHL17 L107V FTHL17_ENST00000359202 D46N FTHL17_ENST00000359202 L107V FTSJD2 E370D FTSJD2 R133W FUBP1_ENST00000370768 R430C FUCA2 R159G FUK R235H FUNDC2 A162P FURIN A489V FURIN A574T FUS K312Q FUT1 D189N FUT1 V83F FUT10 K120N FUT10 L315P FUT6 R126W FUT9 G7E FUT9 R328Q FXR1 A233T FXR1 G582D FXYD5 L10V FXYD5 Q77K FXYD5_ENST00000541435 L10V FXYD5_ENST00000541435 Q77K FYCO1 A1278T FYN V243L FYTTD1 R42Q FZD1 R391C FZD1 R517H FZD10 R261H FZD10 W9C FZD2 C100R FZD2 V379M FZD3 D367N FZD3 K502N FZD6 I302S FZD6 I488T FZD6 R416Q FZD7 A390T FZD9 T573A FZR1 R445G G2E3 D535G G2E3 L527P G2E3 Q618E G2E3 R100Q G2E3 R161Q G3BP1 E289K G3BP2 E315K G3BP2 M446I G3BP2 R482H G3BP2 R78C G6PC K354N G6PD F501L G6PD P512H G6PD_ENST00000393562 P542H GAB1 D86Y GAB1 Y83C GAB2 P161L GAB2 P161T GAB2 R565C GAB2 S634P GABARAPL1 H69N GABARAPL2 N113D GABARAPL2 N113S GABBR1 G364E GABBR1 T115M GABBR1 T369A GABBR2 G492W GABPA A291V GABPA P353L GABPA Q97R GABRA1 L436V GABRA1 P280T GABRA1 R282G GABRA1 R94C GABRA1 R94H GABRA2 K408N GABRA2 T386A GABRA2 T393M GABRA2 T439A GABRA3 A420T GABRA3 R73H GABRA3 T108S GABRA4 R460Q GABRA4 S516G GABRA4 S516R GABRA5 C173Y GABRA5 S126N GABRA5 T301M GABRA6 D44N GABRA6 K173T GABRA6 K93T GABRA6 Q259R GABRA6 R84H GABRA6 T328I GABRA6 V314A GABRB1 D450G GABRB1 R142Q GABRB1 R405H GABRB1 R416C GABRB1 S181I GABRB2 R432C GABRB2_ENST00000274547 R387W GABRB2_ENST00000274547 R470C GABRB3 D444N GABRB3 R217S GABRE S101P GABRE_ENST00000370328 S214P GABRG1 R244Q GABRG1 T252M GABRG1 T48M GABRG2 A106T GABRG2 R125C GABRG2 R391H GABRG2 T165A GABRG2 Y452C GABRG3 A211V GABRG3 A330V GABRG3 R134C GABRP H416R GABRP H416Y GABRQ E481K GABRQ E56K GABRQ H489R GABRQ R359Q GABRR1 A292T GABRR2 A343V GABRR2 S193Y GABRR3 S91L GAD1 R90C GAD2 G447R GAD2 L285F GAD2 M415V GAD2 R448H GAD2 R580C GADD45GIP1 L163P GADL1 D58Y GADL1_ENST00000282538 D242Y GAGE12J R28Q GAGE2A Q59E GAGE2A_ENST00000362097 Q59E GAK A1129T GAL3ST2 G326S GAL3ST3 A221D GAL3ST3 A271S GAL3ST3 R252W GAL3ST3 T74M GAL3ST4 R375H GALK2 G392R GALK2 Y99C GALK2_ENST00000560031 G403R GALNT10 R427H GALNT11 E390K GALNT11 R177H GALNT11 R549W GALNT12 L153P GALNT13 E39G GALNT13 R181S GALNT13 R190H GALNT2 F395L GALNT2 L421P GALNT3 L209F GALNT3 P213S GALNT5 K257T GALNT5 L692F GALNT5 L692P GALNT5 R558W GALNT6 K70R GALNT8 H121Y GALNTL5 R262I GALNTL5 R411H GALNTL6 D320Y GALNTL6 M570L GALNTL6 R126C GALR1 A288T GALR3 V76A GALT F24L GAN I73T GAN S183Y GANAB C47R GAP43 E121D GAP43 K13R GAPT R40Q GAPVD1 L540P GARNL3 A445V GARNL3 G226R GAS2L2 D189A GAS2L2 D431N GAS2L2 G101R GAS2L2 G433W GAS2L2 R511H GAS2L2 R632C GAS2L3 Q538E GAS6_ENST00000327773 F479S GAS6_ENST00000327773 S447G GAS7 A283V GAS8 E108K GATA1 A227T GATA1 M1I GATA1 M1T GATA1 M1V GATA1 V74F GATA1 V74I GATA2 A164T GATA2 A318G GATA2 A318T GATA2 A318V GATA2 G320D GATA2 L321F GATA2 L321V GATA2 L359V GATA2 P304H GATA2 R308Q GATA2 R330Q GATA2 R361H GATA2 R362Q GATA3 A396T GATA3 L344P GATA3 M294K GATA3 P409H GATA3 R276Q GATA3 S403P GATA6 G158S GATA6 R456H GATAD2A R469H GATAD2A_ENST00000360315 R612H GATAD2B S586L GATM R189C GBA2 R210C GBA2 R630Q GBE1_ENST00000429644 V505D GBF1 A1243V GBF1 A1289V GBF1 T1286A GBP1 S428L GBP2 S113F GBP4 E114K GBP4 K121N GBP4 M264I GBP5 R396Q GBP6 P220L GBP6 R523H GC P53L GC S221P GCC2 V645E GCDH R243W GCDH_ENST00000457854 R243W GCFC1 G72R GCFC1 R252H GCFC1 V8G GCHFR R62H GCK E158K GCKR P185L GCKR R361H GCKR R361S GCLM E141K GCM1 L122F GCM1 L363V GCM2 L291P GCM2 P427A GCM2 R265I GCN1L1 R1794C GCN1L1 R2364C GCNT2 S15C GCNT2_ENST00000265012 F107S GCNT3 K266N GCNT3 K311N GCSH R51H GC_ENST00000504199 S240P GDA E439G GDAP1 R70C GDAP1 T307A GDAP2 D450V GDAP2 R187C GDA_ENST00000238018 E439G GDE1 L257P GDF10 T130M GDF11 T149M GDF2 E337K GDF3 E203K GDF3 G213R GDF3 R84C GDF5 R301Q GDF5 R387H GDF5OS R119W GDF5OS_ENST00000374375 R119W GDF9 L347I GDF9 M446T GDPD2 R230Q GDPD3 R316W GDPD5 A480T GDPD5 V473I GEM R268L GEMIN4 E593V GEMIN4_ENST00000319004 E593V GEMIN5 Q575K GEMIN5 R284C GEN1_ENST00000381254 D482N GEN1_ENST00000381254 S509L GFAP E254K GFI1 T363A GFI1 T417M GFI1B D318N GFI1B R315H GFI1B R321W GFOD2 S138L GFOD2 V205M GFRA1 R221L GFRA2 Q227K GFRA3 V195A GFRAL D195G GGA1 G239S GGA2 A63V GGCX R704Q GGN A356T GGN S267L GGNBP2 K134R GGT1 S428N GGT1 T117S GGT5 A195V GGT5 R362C GGTLA4 M31T GGTLC1 M31T GGTLC2 S94P GH2 A184V GH2 T93M GH2_ENST00000456543 T93M GHDC Q129R GHDC_ENST00000414034 Q129R GHR M206V GHRH N66K GIGYF1 S228F GIGYF2 E1116V GIGYF2 R205H GIGYF2 T405A GIGYF2 V469A GIGYF2 Y538N GIGYF2_ENST00000409451 E1137V GIGYF2_ENST00000409451 R227H GIGYF2_ENST00000409451 T426A GIGYF2_ENST00000409451 V490A GIGYF2_ENST00000409451 Y559N GIMAP8 D541G GIMAP8 E10K GIMAP8 G460W GIMAP8 R469W GIMAP8 W293R GIN1 R57G GIOT-1 R261W GIPC2 E115K GJA1 A323V GJA10 R428H GJA3 P126S GJA4 R243Q GJA5 T56M GJA8 A96V GJA8 K390N GJA8 K390R GJA8 P386L GJA8 V433I GJB3 H94N GJB4 F68L GJB5 R32H GJC3 D246N GJD2 R107C GJD2 R108C GK2 V507I GKN1 K118E GK_ENST00000378943 R499C GLB1 E287K GLB1 M609T GLB1L2 H255N GLB1L3 G146V GLB1L3_ENST00000431683 G485V GLCCI1 D154G GLCCI1 L506F GLDC D436H GLDC I933F GLDC R461W GLDN V463A GLDN V463I GLG1 M871V GLI1 A1051V GLI1 G819A GLI1 L88M GLI1 R637Q GLI1 S1094F GLI2 A188V GLI2 G1357V GLI2 P63L GLI2 P63Q GLI2 P63S GLI2 R479Q GLI2 S92G GLI3 A57T GLI3 A958V GLI3 D1157N GLI3 P169L GLI3 P653L GLI3 Q670H GLI3 R449W GLI3 T107M GLI3 T418M GLIPR1L2 R211Q GLIPR2 V26I GLIS1 R121L GLIS1 S126L GLP1R S432R GLP2R R210C GLRA1 R246W GLRA1 R93W GLRA2 A288T GLRA2 F26L GLRA2_ENST00000355020 F26L GLRA3 D45H GLRA3 F132L GLRA3 L454I GLRA3 T295M GLT25D2 P137Q GLT25D2 T560M GLT25D2 V475I GLT25D2 V482L GLT28D1 S52G GLT8D1 I229V GLTPD2 A24V GLTSCR2 A383V GLTSCR2 Q389P GLTSCR2 R163P GLTSCR2 R461C GLUD1 L530V GLYATL1 R305C GLYATL1_ENST00000317391 R274C GLYATL3 A118D GM2A V153A GMCL1 D109G GMCL1 E322G GMDS R64Q GMEB2 A505T GMFB R22H GMNN E104Q GMPR A234V GMPR G172R GMPR R39Q GMPS S181F GMPS V268A GNA11 Q209L GNA11 Q209P GNA11 R183C GNA14 R302G GNA14 R302K GNA15 E173K GNA15 R366C GNA15 V199M GNAI1 A101V GNAI1 D193N GNAI2 A114T GNAI2 R143H GNAI2 R179H GNAI2 Y155H GNAO1_ENST00000262494 G203R GNAQ Q209L GNAQ Q209P GNAQ Q209R GNAQ R183Q GNAQ T175S GNAQ T96S GNAS D141G GNAS Q227H GNAS Q227K GNAS Q227L GNAS Q227R GNAS R201C GNAS R201H GNAS R201L GNAS R201S GNAS_ENST00000371100 A548E GNAS_ENST00000371100 D784G GNAS_ENST00000371100 R844C GNAS_ENST00000371100 R844H GNAS_ENST00000371100 R844L GNAT1 A83T GNAT3_ENST00000398291 R129Q GNAZ D151N GNAZ G59C GNAZ R15W GNB1 I80T GNB2 M101V GNB4 P107L GNE R8Q GNG4 K24N GNG4 R66C GNL2 R530Q GNL3L R522C GNPAT R270G GNPAT V510A GNPAT V510I GNRHR R139C GNS S280Y GOLGA1 E662G GOLGA2 K48N GOLGA3 T934A GOLGA3 V453G GOLGA4 F1453V GOLGA4 Q1536H GOLGA4 R390H GOLGA5_ENST00000163416 E476G GOLGA5_ENST00000163416 E565K GOLGA5_ENST00000163416 E623K GOLGA6A R582W GOLGA6B K284E GOLGA6B V351A GOLGA6D C177S GOLGA6L1 L368Q GOLGA6L6 D570E GOLGA6L6 K609R GOLGA6L6 R520W GOLGA8C G385V GOLGA8C M238I GOLGA8C P218S GOLGA8F G449W GOLGA8IP R169C GOLGA8IP_ENST00000450802 R169C GOLGB1 A2789T GOLGB1 E1227D GOLGB1 E1989K GOLGB1 E2564G GOLGB1 Q1074R GOLGB1 S1155N GOLGB1 S2612Y GOLIM4 R665H GOLPH3L D120Y GON4L A784V GON4L H303R GON4L_ENST00000368331 A784V GON4L_ENST00000368331 D1620N GON4L_ENST00000368331 H303R GON4L_ENST00000437809 A784V GON4L_ENST00000437809 H303R GORAB R331C GORASP1 A182T GORASP1 R106S GORASP1 V100A GORASP2 I153T GOT1L1_ENST00000307599 V180I GOT2 R355W GP2 D490N GP2 G389E GP2 Q83H GP2 S41L GP6 K323T GPAA1 R484Q GPAT2 L779Q GPAT2 R692C GPATCH4 D131N GPATCH8 D321G GPBP1 S379P GPC2 D200N GPC5 E365G GPC5 F397L GPC6 A214T GPC6 C254F GPC6 P366S GPC6 T241A GPD1 V209G GPD2 R264H GPHB5 R53W GPHB5_ENST00000314140 R53W GPHB5_ENST00000314140 W60C GPLD1 I285T GPLD1 M254V GPLD1 R717Q GPM6A E3D GPM6A R163W GPM6A R178C GPM6A R273W GPM6B F98C GPM6B_ENST00000316715 F138C GPNMB A110V GPNMB G149S GPNMB N391S GPNMB N467K GPR1 H204Q GPR101 F256L GPR101 F443L GPR101 K230N GPR101 V423M GPR110 R426W GPR110_ENST00000371243 K211R GPR111 G387D GPR111 L378M GPR111 V490F GPR111_ENST00000296862 G455D GPR111_ENST00000296862 L446M GPR111_ENST00000296862 V558F GPR112 A1091V GPR112 A2866T GPR112 H2104D GPR112 L1957F GPR112 P1366S GPR112 R3017L GPR112 S2944N GPR112 S549L GPR113 A282V GPR113_ENST00000311519 A481V GPR115 E126G GPR115 Q274H GPR115 T397A GPR116 D495Y GPR116 R515I GPR119 G123R GPR123_ENST00000368577 T38I GPR125 A906T GPR125 F1031L GPR125 L107H GPR125 P350L GPR125 R113Q GPR125 R692Q GPR126 D709Y GPR126 F120L GPR126_ENST00000367609 D737Y GPR126_ENST00000367609 F120L GPR128 I34M GPR128 R5G GPR132 R156Q GPR132 R316C GPR133 R673C GPR135 R462H GPR135 T492P GPR139 R291W GPR139 T4M GPR141 K89E GPR141 R305C GPR141 R305H GPR141 R305L GPR141 R305S GPR141 Y265C GPR149 I314T GPR149 R542C GPR149 R542H GPR149 S84L GPR151 V293A GPR156 C763S GPR156 F754L GPR158 D566N GPR158 K1027R GPR158 N1103S GPR158 R1065C GPR158 R675Q GPR161 R90H GPR162 R115H GPR17 R263H GPR173 D68Y GPR173_ENST00000332582 D68Y GPR174 F248S GPR174 R116Q GPR174 S138I GPR176 R503K GPR179 R1976C GPR179 R2263Q GPR179 T2269A GPR182 V45M GPR183 A338V GPR19 D387Y GPR19 P170S GPR20 A58V GPR20 A7V GPR20 V300I GPR21 R216H GPR21 Y190C GPR22 V19A GPR26 D207N GPR26 V187M GPR31 A35V GPR32 T332P GPR35 L88Q GPR37 E592K GPR4 M316V GPR4 R44P GPR45 T221M GPR45 V285A GPR61 A62T GPR61 P193Q GPR61 P193S GPR63 K391T GPR63 W203L GPR75 D443G GPR77 E319K GPR84 R118C GPR85 G258C GPR85 T352A GPR87 D191N GPR97 R139Q GPR97 V201I GPR98 A2106V GPR98 A3178S GPR98 E2642G GPR98 E3855K GPR98 E3965D GPR98 L3032I GPR98 R2424G GPR98 R3147Q GPR98 R4142Q GPR98 R4142W GPR98 R4504K GPR98 R5277C GPR98 R5547H GPR98 S2200Y GPR98 T2017P GPR98 V1312M GPRASP1 A70E GPRASP1 C1147Y GPRASP1 F1111L GPRASP2 E400D GPRC5A R124W GPRC5A S110F GPRC5A V30I GPRC5B R80W GPRC5B T33S GPRC5C R226W GPRC5C R282C GPRC5C W67C GPRC5C_ENST00000392629 W34C GPRC6A D405Y GPRC6A M77I GPRC6A R908G GPRIN1 R372L GPRIN2 S328C GPRIN2 T100P GPRIN3 D506G GPS2 R272H GPSM2 D297G GPSM2 S567T GPX1 P77R GPX5 A47T GPX5 R197C GPX6 A71T GPX8 S61Y GRAMD1C L325P GRAP2 E69D GRAP2 S304P GRB10 T422M GRB10_ENST00000403097 Q2R GRB10_ENST00000403097 T416M GRB14 G497C GRB14 K67M GRB14 K67R GRB2 F9L GRB7 A137T GRB7 R435H GREB1 C157R GREB1L A1237V GREB1L D1619Y GREB1L R1889C GREB1L S257L GREB1_ENST00000263834 C157R GREB1_ENST00000381486 C157R GREB1_ENST00000381486 E1555K GREB1_ENST00000381486 E527K GREB1_ENST00000381486 L725V GREB1_ENST00000381486 Q941R GREB1_ENST00000381486 S1427L GREM2 A121T GRHL2 N399T GRHL3 R414C GRHL3 V266I GRIA1 D774E GRIA1 F585Y GRIA1 N425D GRIA1 R126C GRIA1 R208C GRIA1 R280Q GRIA1 R434H GRIA1 R455H GRIA1 T110M GRIA1_ENST00000544403 N425D GRIA1_ENST00000544403 R280Q GRIA1_ENST00000544403 T110M GRIA2 E879K GRIA2 K677E GRIA2 L10F GRIA2 L280M GRIA2 R845Q GRIA2_ENST00000264426 L10F GRIA2_ENST00000264426 L280M GRIA2_ENST00000264426 R845Q GRIA3 A723T GRIA3 K160T GRIA3_ENST00000264357 A723T GRIA3_ENST00000264357 K160T GRIA3_ENST00000371256 K160T GRIA4 E286G GRIA4 R368C GRIA4 S165L GRIA4 S165P GRIA4 S227G GRIA4 V780I GRIA4 W628R GRIA4_ENST00000393125 E286G GRIA4_ENST00000393125 S165L GRIA4_ENST00000393125 S165P GRIA4_ENST00000393125 S227G GRIA4_ENST00000393127 E286G GRIA4_ENST00000393127 R368C GRIA4_ENST00000393127 S165L GRIA4_ENST00000393127 S165P GRIA4_ENST00000393127 S227G GRIA4_ENST00000393127 W628R GRID1 A608T GRID1 I284T GRID1 L478Q GRID1 R384W GRID1 R535W GRID2 D173G GRID2 D173Y GRID2 H397Y GRID2 R297L GRID2 R942H GRID2 T537M GRID2 T853M GRID2IP R1097W GRID2IP_ENST00000457091 R1097W GRIK1 A734T GRIK1 R281Q GRIK1 S670L GRIK1_ENST00000399907 A749T GRIK1_ENST00000399907 S685L GRIK2 E187G GRIK2 E233K GRIK2 E723K GRIK2 E743K GRIK2 R15C GRIK2 R202C GRIK2 V552I GRIK2_ENST00000421544 E187G GRIK2_ENST00000421544 E233K GRIK2_ENST00000421544 E723K GRIK2_ENST00000421544 E743K GRIK2_ENST00000421544 R15C GRIK2_ENST00000421544 R202C GRIK2_ENST00000421544 V552I GRIK3 D733N GRIK3 R215H GRIK3 R361H GRIK3 R450W GRIK3 R636C GRIK4 A213T GRIK4 D196N GRIK4 R527H GRIK4 R683H GRIK4 R760Q GRIK5 G53R GRIK5 I85N GRIK5 R376H GRIK5 R41H GRIK5 Y130S GRIK5_ENST00000301218 G53R GRIK5_ENST00000301218 I85N GRIK5_ENST00000301218 R376H GRIN2A A302T GRIN2A E1073K GRIN2A E1175K GRIN2A E371K GRIN2A E962K GRIN2A F1191L GRIN2A F1191S GRIN2A M653I GRIN2A N886S GRIN2A R1114T GRIN2A R1169Q GRIN2A R1288C GRIN2A S278F GRIN2A S929F GRIN2B A109T GRIN2B A271V GRIN2B D403N GRIN2B G763V GRIN2B R519Q GRIN2B R540H GRIN2C G784R GRIN2C R1209S GRIN2C_ENST00000293190 R1209S GRIN2D E605K GRIN3A A299T GRIN3A F931L GRIN3A H103Y GRIN3A R225C GRINA L214P GRIP1 D326H GRIP1 S879L GRIP2 V360M GRIPAP1_ENST00000376423 R32C GRK4_ENST00000398052 R26C GRK5 A292V GRK5 D163G GRK5 V466I GRLF1 A435V GRLF1 C787S GRLF1 R1187Q GRLF1_ENST00000317082 A435V GRLF1_ENST00000317082 C787S GRLF1_ENST00000317082 I210V GRLF1_ENST00000317082 N1099S GRLF1_ENST00000317082 R1187Q GRM1 A184T GRM1 D862N GRM1 F13L GRM1 S626P GRM1 T548M GRM1 V308I GRM1_ENST00000392299 D862N GRM1_ENST00000392299 F13L GRM1_ENST00000392299 S626P GRM1_ENST00000392299 T548M GRM1_ENST00000392299 V308I GRM2 E754K GRM2 R183H GRM3 A176T GRM3 D77Y GRM3 E767K GRM3 G848E GRM3 L750V GRM3 R183C GRM3 R723W GRM3 S610L GRM3 T758M GRM3 V271I GRM4 R391H GRM4 R44H GRM4 R474C GRM4 R483C GRM4_ENST00000374177 A484T GRM4_ENST00000374177 R275H GRM4_ENST00000374177 R358C GRM4_ENST00000374177 R367C GRM4_ENST00000374181 A600T GRM4_ENST00000374181 R391H GRM4_ENST00000374181 R44H GRM4_ENST00000374181 R474C GRM4_ENST00000374181 R483C GRM5 A59V GRM5 A623S GRM5 A855T GRM5 P32L GRM5 R190S GRM5 R435W GRM5 R668H GRM5_ENST00000418177 A59V GRM5_ENST00000418177 A623S GRM5_ENST00000418177 A855T GRM5_ENST00000418177 R190S GRM5_ENST00000418177 R435W GRM6 A358T GRM6 V775M GRM7 L21V GRM7 R260H GRM7 R679Q GRM7 R859W GRM7 T377A GRM7 T377M GRM7 T700A GRM7 T700I GRM7 T824M GRM8 A597T GRM8 A808E GRM8 C64R GRM8 L626P GRM8 N480S GRM8 P643Q GRM8 R30I GRM8 R729W GRM8 R852C GRM8 S219L GRM8 T118I GRM8 V653L GRM8 W215C GRM8_ENST00000405249 C64R GRM8_ENST00000405249 R30I GRM8_ENST00000405249 S219L GRN V77I GRWD1 V446A GRXCR1 R150W GRXCR1 R262Q GSC L253F GSDMB D228G GSDMB_ENST00000418519 D250G GSDMC L499P GSG1 H184Y GSG1_ENST00000351606 H220Y GSG2_ENST00000325418 C762F GSK3A H400R GSK3B V361A GSK3B_ENST00000316626 V361A GSS D219G GSTA2 G144R GSTA2 I35L GSTA5 E215G GSTA5 L108V GSTM5 A160V GSTM5 D56Y GSTM5 L179P GSTM5 M166I GSTM5 M166V GSTM5 T154A GSTO2 P180L GSTZ1_ENST00000216465 F50I GTF2B R132Q GTF2B R137Q GTF2E1 D260N GTF2E1 R432H GTF2F2 L62I GTF2I N440S GTF2IRD1 D856N GTF2IRD1 R378W GTF2IRD2 T796A GTF2IRD2B K790E GTF3C1 A1922V GTF3C1 G733W GTF3C1 L1220P GTF3C1 R1245C GTF3C1 V1463I GTF3C2 A346T GTF3C2 R595Q GTF3C2 R595W GTF3C3 D387Y GTF3C3 D601G GTF3C3 R474G GTF3C3 S604P GTF3C5 R22Q GTPBP1 P433L GTPBP4 H538L GTPBP4 I280T GTPBP4 T32N GTSF1 A49T GUCA1C G33S GUCY1A2 E698V GUCY1A2 G423C GUCY1A2 L549M GUCY1A2 L732I GUCY1A2 P676L GUCY1A2 R728Q GUCY1A2 T551P GUCY1A2 Y572H GUCY1A3 C517F GUCY1A3 G137C GUCY1A3 G137S GUCY1A3 I371M GUCY1A3 L443R GUCY2D_ENST00000254854 R331P GUCY2F D64N GUCY2F E1055G GUCY2F K1052R GUCY2F R10P GUK1_ENST00000366719 P11Q GULP1 I220T GXYLT2 N119S GYG2 E428K GYLTL1B R267W GYLTL1B R699H GYPA G113C GYPA G113S GYPB E13A GYPC R82H GYPE A54V GYS2 A252T GYS2 R580H GZMA D164N H2AFJ E93G H2AFY A58V H2AFY2 T36M H2AFY_ENST00000312469 A58V H2BFWT R3H H3F3A G35R H3F3A G35V H3F3A K28M H3F3C E97K HACE1 A738V HACE1 V741A HADHA D434N HADHA E115A HADHA_ENST00000457468 E28A HAL R69Q HAO1 G251D HAO1 R145W HAO1 R172C HAO1 R4W HAO1 R84H HAO1 V367F HAO2 R336Q HAO2 R336W HAO2 R46H HAPLN1 R166Q HAPLN1 R333H HAPLN1 T149I HAPLN3 R143H HAPLN3 V119M HAPLN4 W213L HARS R375H HARS2 K144N HARS2 R168H HARS2 R363C HARS_ENST00000512655 R265H HAS1 R345H HAS2 G139D HAS3 A50T HAS3_ENST00000219322 A50T HAT1 S239R HAUS1 M276I HAUS1 M276V HAUS3 V553M HAUS4 R262C HAUS6 E543G HAUS6 R51C HAVCR1 V141I HAVCR2 A28V HAX1 S66G HBB F42L HBD G57D HBS1L_ENST00000367822 R516Q HCAR1 R130Q HCFC1 R425W HCFC1_ENST00000310441 R524W HCFC2 T458A HCFC2 T458M HCFC2 W330R HCK A392T HCK D378G HCK E389K HCK P477L HCK S162P HCK_ENST00000375852 A413T HCK_ENST00000375852 P498L HCK_ENST00000375852 S183P HCN1 M730I HCN1 P785T HCN1 R504Q HCN1 R715Q HCN1 T820M HCN1 V508L HCN1 V508M HCN3 S293L HCN4 E321G HCN4 P846L HCN4 R332W HCN4 R387C HCN4 R525H HCRTR2 L96V HCRTR2 R168Q HCRTR2 R170H HCRTR2 R248H HCST T20K HDAC1 E398K HDAC1 G25E HDAC11 E239G HDAC2 D175N HDAC2_ENST00000398283 D269N HDAC2_ENST00000398283 S81R HDAC4 A552T HDAC5 A1043T HDAC5 Q583R HDAC7 E342K HDAC9 A346P HDAC9 G738V HDAC9 L1043Q HDAC9 R628C HDAC9 R847H HDAC9 T932M HDAC9 V650I HDAC9_ENST00000262069 A346P HDAC9_ENST00000262069 G738V HDAC9_ENST00000262069 L1043Q HDAC9_ENST00000262069 R628C HDAC9_ENST00000262069 T932M HDAC9_ENST00000405010 A343P HDAC9_ENST00000417496 A341P HDDC2 R101P HDGFL1 N84D HDLBP E564G HDLBP G748D HDX D362E HDX E535D HDX T141P HEATR1 A746T HEATR1 A782V HEATR1 E574K HEATR1 K568N HEATR2 A683V HEATR3 H416Y HEATR3 Q212R HEATR3 S243F HEATR4 R177Q HEATR5A V393I HEATR5A_ENST00000389961 V393I HEATR6 A1144P HEATR6 C232F HEATR6 E954Q HEATR7B1 I901T HEATR7B2 A913V HEATR7B2 E1109K HEATR7B2 P1199S HEATR7B2 T456N HEATR8 E553K HEATR8_ENST00000421030 E553K HEBP1 R181H HECTD2 W357R HECTD3 R239C HECTD3_ENST00000372168 R133C HECW1 A1488T HECW1 A954V HECW1 H842R HECW1 I90V HECW1 K218T HECW1 L1391S HECW1 R1072Q HECW1 R1272Q HECW1 R1502Q HECW1 R381W HECW1 R557Q HECW1 R999H HECW1 S1271L HECW1_ENST00000395891 A954V HECW1_ENST00000395891 H842R HECW1_ENST00000395891 K218T HECW1_ENST00000395891 L1391S HECW1_ENST00000395891 R1502Q HECW1_ENST00000395891 R557Q HECW1_ENST00000395891 R999H HECW2 Q365H HECW2 R15Q HECW2 S60G HECW2 S939G HEG1 S381L HEG1 S646L HELB D399N HELB P407L HELB R671C HELQ L1046P HENMT1 N105D HENMT1 R200C HEPACAM2 G19E HEPACAM2 G19W HEPACAM2 R417K HEPACAM2_ENST00000394468 G31E HEPACAM2_ENST00000394468 G31W HEPACAM2_ENST00000394468 R429K HEPH E909G HEPH I47S HEPH L1139I HEPH L580P HEPH P556L HEPHL1 R1021Q HEPHL1 R219Q HEPHL1 R801Q HEPHL1 S1011G HERC1 R1912C HERC1 R883I HERC1 T241I HERC1 V3454I HERC1_ENST00000443617 R1912C HERC1_ENST00000443617 R883I HERC1_ENST00000443617 T241I HERC1_ENST00000443617 V3454I HERC2 A4634V HERC2 P2924A HERC2 R1056C HERC2 R1059H HERC2 R2216H HERC2 R2762G HERC2 T2353S HERC2 V3665I HERC3 G189E HERC3 R358C HERC5 G251D HERC5 R885L HERC5 R885W HERC5 S481P HERC6_ENST00000264346 T459M HERPUD1 V304I HERPUD2 E255G HERPUD2 R285Q HESX1 R159W HEXB R533H HEXDC T482P HEXIM2 R36H HEY1 I141T HEY2 A134V HEY2 R60H HFE A181S HFE2 D249G HFE2 R334H HFM1 P268L HFM1 S1120L HGD G205S HGF R424C HGF R468H HGF S467Y HGF Y619C HGS K51E HGS K51R HHATL D262N HHATL V480I HHIP A288T HHIP D513N HHIP G538S HHIP G64R HHIPL2 K303N HHIPL2 R250H HHIPL2 V262M HHLA2_ENST00000357759 I14V HIAT1 P259L HIATL1 R109G HIF1A D238N HIF1A E681D HIF1A K213Q HIF1A Q697E HIF1A S727P HIF1A V690M HIF3A S463F HIPK1 P766L HIPK1_ENST00000369558 P766L HIPK2 R802Q HIPK2 S604F HIPK2 T772A HIPK2 V85A HIPK2 V85I HIPK2_ENST00000406875 R802Q HIPK2_ENST00000406875 S604F HIPK2_ENST00000406875 T772A HIPK2_ENST00000406875 V85A HIPK3 R38I HIPK3 V1164A HIPK3 Y365D HIPK4_ENST00000291823 R280H HIST1H1B A137G HIST1H1B K143N HIST1H1B K27R HIST1H1D Q96H HIST1H1D S90N HIST1H1E A65P HIST1H1E S58P HIST1H1T G102S HIST1H1T S112G HIST1H2AA A70E HIST1H2AD E122Q HIST1H2AK N69D HIST1H2AM G8C HIST1H2BD E77K HIST1H2BF D69G HIST1H2BF E77K HIST1H2BH E114K HIST1H2BH E77K HIST1H2BH L103V HIST1H2BI E77K HIST1H2BJ E114K HIST1H2BJ G54D HIST1H2BL Y84C HIST1H2BO_ENST00000303806 E77K HIST1H2BO_ENST00000303806 I40M HIST1H3B E51Q HIST1H3B E74K HIST1H3B E98K HIST1H3B F105L HIST1H3B K28M HIST1H3B R135T HIST1H3C E98K HIST1H3C G14S HIST1H3C R41C HIST1H3D R27G HIST1H3F V72A HIST1H3H A128P HIST1H3I E106Q HIST1H4B R46Q HIST1H4L E64G HIST2H2AB L52M HIST2H2AC G5D HIST2H2AC K119E HIST2H2AC K125E HIST2H2AC Q25R HIST2H2BE F71L HIST2H2BE G54D HIST2H2BE P4L HIST2H2BE S37R HIST2H2BF G54D HIST2H3D S11L HIST3H2BB_ENST00000369160 G54D HIST4H4 G95S HIST4H4 R37C HIST4H4 R40Q HIVEP1 F1388L HIVEP1 R3Q HIVEP1 R862G HIVEP1 S1572C HIVEP1 S1612L HIVEP1 S1785L HIVEP1 V1644A HIVEP2 A1734V HIVEP2 L1693P HIVEP2 R1337Q HIVEP2 R882W HIVEP2 V1043I HIVEP3 R1749H HIVEP3 S1695F HIVEP3 V475M HJURP E444K HJURP L360I HK1 L87P HK1_ENST00000298649 L82P HK2 R42Q HK3 R475H HK3 R480W HK3_ENST00000292432 R475H HK3_ENST00000292432 R480W HKR1 M1I HLA-A A48S HLA-A Q120H HLA-A Q78R HLA-B A329T HLA-B A329V HLA-B R7G HLA-C E299G HLA-C L119I HLA-C T118I HLA-C W191S HLA-C_ENST00000383329 E299G HLA-C_ENST00000383329 L119I HLA-C_ENST00000383329 T118I HLA-DMA E84K HLA-DMB A166S HLA-DMB_ENST00000446948 A166S HLA-DOB R65H HLA-DPA1 A42V HLA-DPA1 R249H HLA-DQB2 A167T HLA-DRA R243H HLA-E D348N HLA-E W346S HLA-G A319G HLA-G A326V HLA-G D338Y HLA-G L303Q HLA-G L331M HLA-G M309V HLA-G T264I HLA-G V255L HLCS E362K HLCS F358L HLF_ENST00000226067 S258W HLTF E422V HLTF M839L HLTF N24S HLX T316M HM13 V174I HM13 W182R HM13_ENST00000398174 W182R HMBS R246H HMCN1 A2725V HMCN1 C5470R HMCN1 D3573H HMCN1 D5165G HMCN1 D5165Y HMCN1 E3043K HMCN1 E5478K HMCN1 G3473D HMCN1 K1027T HMCN1 K642N HMCN1 M296I HMCN1 P2103L HMCN1 P2509T HMCN1 P2677L HMCN1 R2533H HMCN1 R2926Q HMCN1 R3795L HMCN1 R4475H HMCN1 R4917C HMCN1 S2297I HMCN1 T1647M HMCN1 T226A HMCN1 T3811A HMCN1 V2760M HMCN1 V3731L HMCN1 V4990L HMG20A D346N HMG20A E248D HMGCLL1 A274V HMGCLL1 L335F HMGCS1 P186S HMHA1 M515I HMMR E203K HMOX1 D92G HMP19 R131H HNF1A G207D HNF1A K273E HNF1A N127Y HNF1A N237K HNF1A N237S HNF1A Q211P HNF1A Q250P HNF1A R114H HNF1A R131W HNF1A R168C HNF1A R203C HNF1A R244G HNF1A R263C HNF1A R272H HNF1A R272S HNF1A S574N HNF1A T260M HNF1A T525I HNF1A W165C HNF1A W165R HNF1A W206C HNF1A W206L HNF1B I245T HNF1B N302K HNF4A C418S HNF4A L393P HNF4A V402L HNF4G D166N HNMT M141I HNMT S201L HNMT T27M HNRNPA1 G110C HNRNPA1 M72I HNRNPA1_ENST00000340913 G110C HNRNPA1_ENST00000340913 M72I HNRNPCL1 V55I HNRNPF V113M HNRNPH1 K347Q HNRNPH1_ENST00000356731 K347Q HNRNPL D390H HNRNPUL2 R576S HNRPF V113M HNRPH1 K347Q HNRPL D257H HOMEZ_ENST00000357460 A302T HOMEZ_ENST00000357460 E17Q HOOK2 A274V HOOK3 Q221R HORMAD1 I157V HORMAD1 N134S HORMAD1 R255G HORMAD1 R255S HOXA1 A195T HOXA1 R233C HOXA2 S358G HOXA3 D42N HOXA9 T115R HOXB1 Y22H HOXB3 E81D HOXB6 E117K HOXB9 R236W HOXC10 A120V HOXC4 R208H HOXC4 Y136H HOXC5 G25E HOXC9 P45S HOXD10 E250G HOXD10 E250K HOXD10 S125L HOXD11_ENST00000249504 E6K HOXD13 K295N HOXD4 A41T HP1BP3 I188V HPCA D60G HPN I149M HPS1 E38K HPS3 E952G HPS3 N390D HPS3 N390S HPS3 R397Q HPS3 S468L HPS3 V631A HPS4 A271S HPS4_ENST00000398141 A284S HPS5 V821L HPSE D314N HPSE V268A HPSE V268I HPSE2 K58N HPSE2 R267Q HPSE2 R267W HPSE2 R494C HPSE2 R561H HPSE2 Y211H HPSE2_ENST00000370546 K58N HPSE2_ENST00000370546 R267Q HPSE2_ENST00000370546 R267W HPSE2_ENST00000370546 R494C HPSE2_ENST00000370546 Y211H HR C115W HR G396S HRAS A18V HRAS E62G HRAS G12A HRAS G12C HRAS G12D HRAS G12R HRAS G12S HRAS G12V HRAS G13C HRAS G13D HRAS G13R HRAS G13S HRAS G13V HRAS K117N HRAS Q61H HRAS Q61K HRAS Q61L HRAS Q61P HRAS Q61R HRASLS5 G202R HRASLS5 K118T HRASLS5 R246Q HRAS_ENST00000397594 G12D HRAS_ENST00000397594 G13R HRAS_ENST00000397594 G13V HRAS_ENST00000397594 K117N HRAS_ENST00000397594 Q61K HRAS_ENST00000397594 Q61L HRAS_ENST00000397594 Q61R HRAS_ENST00000397594 S158P HRC L152P HRCT1 H92P HRCT1 R63W HRG E303K HRG H340R HRG V458A HRH1 A23S HRH2 R330Q HRH3 A357D HRNR E971K HRNR G2173S HRNR G2539S HRNR G297S HRNR H1913R HRNR R1697C HRNR R2185H HRNR R2423Q HRNR R448Q HRSP12 R120Q HS3ST1 E287K HS3ST2 R205Q HS3ST2 V204A HS3ST4 S404G HS3ST4 S404N HS3ST4_ENST00000331351 S404G HS3ST5 R311H HS3ST5 R59H HS6ST1 D87E HS6ST2 V44L HS6ST3 H232P HS6ST3 Q339H HSCB L215F HSD11B1 G45V HSD17B11 S232G HSD17B12 R302Q HSD17B13 E136D HSD17B2 R131C HSD17B3 A56V HSD17B3 S184Y HSD17B4 I399T HSD17B7 S173N HSD3B7 E167K HSF5 G436V HSP90AA1 D854G HSP90AA1 E327G HSP90AA1 K180T HSP90AB2P P92S HSPA12A R1246H HSPA13 G255V HSPA14 A85V HSPA14 Y286H HSPA1L G623R HSPA1L K389N HSPA1L N113T HSPA1L S241N HSPA1L T224A HSPA2 S622G HSPA4 L751P HSPA4L P425H HSPA4L R634G HSPA5 Q343H HSPA8 A280G HSPA8 D206G HSPA8 D206Y HSPA8 E192Q HSPA8 E48K HSPA8 F245L HSPA8 G224R HSPA8 K159E HSPA8 N256S HSPA8 R262C HSPA8 R269H HSPA8 T226N HSPC159 E86K HSPG2 A291T HSPG2 L2965P HSPG2 R850H HSPG2 S1017F HSPG2 V2652M HSPH1 I807V HTATSF1 E617Q HTR1A A131T HTR1A A280T HTR1A R176H HTR1B A14T HTR1B P183L HTR1E R220W HTR1E S337Y HTR1E V146I HTR1E V75I HTR1F L114P HTR1F L230P HTR2A F186L HTR2A F186S HTR2A S10Y HTR2A S170P HTR2A T39A HTR2C L336F HTR2C P188L HTR2C R152W HTR2C R168W HTR2C R288Q HTR2C S310L HTR2C V215I HTR3A A390T HTR3A R93Q HTR3A V483M HTR3A W380C HTR3B M288T HTR3B R236C HTR3C R65H HTR3C V128M HTR3E A328T HTR3E R12H HTR4 T105M HTR4_ENST00000354217 T105M HTR4_ENST00000362016 T105M HTR5A A264T HTR5A C297F HTR5A R152C HTR5A R262C HTR5A V202M HTR5A V295M HTR6 A349S HTR7 A160T HTR7 D142N HTT D1548N HUMPPA G380R HUS1 F240L HUWE1 L3002Q HUWE1 R2961H HUWE1 R3670C HUWE1 R3853H HUWE1 R3972C HUWE1 R481G HUWE1 R946S HUWE1 V4097I HUWE1_ENST00000342160 L3112Q HUWE1_ENST00000342160 R3071H HUWE1_ENST00000342160 R3780C HUWE1_ENST00000342160 R4082C HUWE1_ENST00000342160 R481G HYAL4 Q114K HYDIN R224Q HYDIN R451Q HYDIN R939Q HYDIN_ENST00000316490 A2037T HYDIN_ENST00000316490 A3218V HYDIN_ENST00000316490 E2131K HYDIN_ENST00000316490 E3330K HYDIN_ENST00000316490 E4184K HYDIN_ENST00000316490 R1187C HYDIN_ENST00000316490 R224Q HYDIN_ENST00000316490 R2421G HYDIN_ENST00000316490 R2421M HYDIN_ENST00000316490 R451Q HYDIN_ENST00000316490 R939Q HYDIN_ENST00000316490 T3317I HYDIN_ENST00000316490 T3477M HYDIN_ENST00000393550 R224Q HYI R45Q HYI_ENST00000372425 R118Q HYOU1 E820K HYOU1 R158C IBA57 S130R IBSP R24Q IBTK C764Y IBTK D769G IBTK H624Y IBTK R469T ICA1 L218P ICAM5 E488G ICAM5 L140M ICOS D64N ID1 D100G ID2 M33I ID3 P56L ID3 P56S ID3 P95S IDE D698G IDH1 A134D IDH1 G123R IDH1 G70D IDH1 G97D IDH1 H133Q IDH1 I130M IDH1 I99M IDH1 R100Q IDH1 R132C IDH1 R132G IDH1 R132H IDH1 R132L IDH1 R132S IDH1 V178I IDH1 V71A IDH1 V71I IDH2 G171D IDH2 R140G IDH2 R140L IDH2 R140Q IDH2 R140W IDH2 R172G IDH2 R172K IDH2 R172M IDH2 R172S IDH2 R172T IDH2 R172W IDI1 E155K IDO1 T367A IDS V429I IFI16 E510D IFI27 A112V IFI27L2 S96Y IFI35 V173F IFI44 I77T IFI44 I77V IFI44L R7C IFIH1 K351E IFIH1 K351R IFIH1 R806H IFIT3 A179V IFIT3 R245C IFIT3 T341M IFITM1 H28R IFITM2 F115L IFITM2 I4T IFITM2 T69P IFITM3 F129L IFITM3 F129V IFITM3 G133R IFITM3 P70T IFITM3 T4I IFITM3 V123I IFITM3 Y132H IFLTD1 A210V IFLTD1 P90L IFLTD1 W285R IFLTD1_ENST00000458174 P111L IFLTD1_ENST00000458174 W306R IFNA1 R148L IFNA10 V79A IFNA2 S177P IFNA4 D25Y IFNAR1 M255I IFNG V15I IFRD1 M282I IFRD2 P152T IFT122 E727Q IFT122 F757L IFT122 R1284H IFT122 V819L IFT172 A1676V IFT172 A944V IFT52 Q422K IFT57 V349A IFT81 S307P IFT81_ENST00000242591 S307P IFT88 Q680K IFT88 R256I IGBP1 R188H IGDCC3 R132C IGDCC4 R491W IGDCC4 S235F IGF1R A1206T IGF1R A578T IGF1R F958L IGF1R R391H IGF1R V105A IGF2 A88T IGF2 P102L IGF2BP1 E334K IGF2BP1 R199W IGF2BP3 R181K IGF2R A1763T IGF2R A1763V IGF2R A2088T IGF2R A2124T IGF2R F1690L IGF2R F2246L IGF2R R1260W IGF2R R1949L IGF2R V1794I IGF2_ENST00000434045 A144T IGF2_ENST00000434045 P158L IGFBP3 K280M IGFBP3 R185C IGFBP3 R252C IGFBP6 R199W IGFBP7 G244E IGFN1 H712Y IGFN1_ENST00000335211 E329K IGFN1_ENST00000335211 H3552Y IGHMBP2 R286W IGHMBP2 R937C IGJ R61Q IGLL1 S45L IGLL5 A175V IGLL5 Y97S IGSF1 G1006V IGSF1 H1003Q IGSF1 V1334I IGSF1 Y1036C IGSF10 G1018R IGSF10 M1190K IGSF10 V2323M IGSF11 R202W IGSF11 R412Q IGSF11_ENST00000393775 R413Q IGSF21 A459T IGSF21 R55W IGSF21 T467M IGSF22 R435H IGSF22 T383M IGSF22_ENST00000513874 T383M IGSF3 M75T IGSF3 R21W IGSF3 T688A IGSF3_ENST00000369483 R21W IGSF5 R292H IGSF5 V216M IGSF8 R39L IGSF9 A367T IGSF9 G389R IGSF9 R645W IGSF9B K706T IGSF9B M146I IGSF9B P438L IGSF9B R108C IGSF9B V290M IGSF9B_ENST00000321016 K1250T IGSF9B_ENST00000321016 M690I IGSF9B_ENST00000321016 P982L IGSF9B_ENST00000321016 V834M IKBKAP A638V IKBKB A360S IKBKB_ENST00000520810 D639N IKBKB_ENST00000520810 P363R IKZF1 G158S IKZF1_ENST00000331340 G158S IKZF1_ENST00000331340 L166Q IKZF3 A8V IKZF3 L162R IKZF3 R279P IKZF4 A454T IKZF4 I351T IKZF4 R163C IKZF4_ENST00000262032 A495T IKZF4_ENST00000262032 D48E IKZF4_ENST00000262032 D48G IKZF4_ENST00000262032 I392T IKZF4_ENST00000262032 R204C IKZF5 T350P IK_ENST00000417647 R346H IL10 R125C IL10 V139M IL11RA_ENST00000555003 R416H IL12RB1 E207D IL12RB1_ENST00000430026 E207D IL12RB2 F99L IL12RB2 G82D IL12RB2 L253P IL13 F128C IL13RA2 D206G IL13RA2 D206V IL13RA2 D209N IL13RA2 N194S IL16 H500R IL16 S391F IL17A F133L IL17B R136C IL17F L22I IL17RA W320L IL17RD V334I IL17RD_ENST00000296318 V478I IL18BP S185P IL18R1 E50G IL18R1 E50K IL18R1 W56C IL18RAP R16Q IL18RAP T401M IL19 D161N IL1A T62S IL1F8 L71P IL1R1 V566M IL1RAPL1 K440E IL1RAPL1 K440R IL1RAPL1 P449Q IL1RAPL1 R428C IL1RAPL1 T614M IL1RAPL1 V347I IL1RAPL1_ENST00000378993 K440E IL1RAPL1_ENST00000378993 K440R IL1RAPL1_ENST00000378993 P449Q IL1RAPL1_ENST00000378993 R428C IL1RAPL1_ENST00000378993 V347I IL1RAPL2 F606L IL1RAPL2 R339Q IL1RAPL2 T647M IL1RL1 A161V IL1RL1 E294G IL1RL1 G215R IL1RL1_ENST00000233954 A161V IL1RL1_ENST00000233954 E294G IL1RL1_ENST00000233954 G215R IL1RL2 A187T IL1RL2 S236L IL1RN A90T IL1RN_ENST00000259206 A127T IL1RN_ENST00000259206 T26M IL20RA A412V IL20RB T297M IL20RB_ENST00000329582 T297M IL21 R40H IL21R_ENST00000395754 V270I IL22RA1 T325S IL23R A201T IL23R I437M IL27 E166D IL28A T105M IL2RA E204K IL2RA R176G IL3 A90T IL3 I118T IL33 A36P IL33 Q34K IL34 A208V IL36B L71P IL36B_ENST00000259213 L71P IL37_ENST00000311328 K19N IL4I1 E173K IL4I1 R119C IL4R S196F IL5RA L47I IL6 D62N IL6R_ENST00000368485 H280Y IL6ST I253K IL6ST S279C IL7R D134Y IL7R K395R IL7R Q171K IL7R S185C IL7R S384Y IL7R T244I IL7R T56A IL8 D79E IL8 L32P IL9 L122M ILF3 V240M ILKAP L241S ILK_ENST00000299421 F342L IMMT E120G IMMT E463K IMMT R525C IMP4 G63V IMP4 Y226H IMP5 R366H IMPDH1 G429V IMPDH2 D226G IMPG1 I185F IMPG1 K248E IMPG1 M51I IMPG1 Q148K IMPG1 R111Q IMPG1 T305M IMPG2 G834D IMPG2 K106E IMPG2 S1144R INA V458L INADL A1118T INADL H66Y ING1 D227Y ING1 W235R ING1_ENST00000338450 D183Y ING1_ENST00000375774 D370Y ING2 W253C ING3 R188Q ING4 G234R INHBA E139D INHBA G274V INHBA P36L INHBA R201G INHBA R379W INHBC Y329C INHBE P217S INMT R91W INO80 E1375K INO80 N151S INOC1 E1375K INOC1 N151S INPP1 C280R INPP1 R283C INPP4A A713S INPP4B R885H INPP4B W248S INPP5D_ENST00000359570 A416T INPP5D_ENST00000359570 R552Q INPP5D_ENST00000359570 V50I INPP5F N367K INPP5F S187F INPP5F_ENST00000369081 S91F INPP5J R314H INPP5J_ENST00000331075 R681H INPP5K R263C INPPL1 A1185D INPPL1 G864D INPPL1 R342Q INPPL1 R479C INPPL1 R486C INSC A531T INSC M467I INSC V358I INSIG2 N130S INSL5 R92H INSL6 R3W INSM2 G515V INSM2 P549L INSR N175K INSR N175S INSRR_ENST00000368195 L135P INSRR_ENST00000368195 L184P INSRR_ENST00000368195 R1075W INSRR_ENST00000368195 R835C INSRR_ENST00000368195 S353G INSRR_ENST00000368195 V698A INSR_ENST00000302850 N175S INTS1 C520R INTS1 V1251M INTS10 R676C INTS12 D113H INTS12 E110K INTS3 F285S INTS3 G118V INTS3 W802C INTS4 N421S INTS4 S345L INTS4 V184A INTS5 A597V INTS7 R144H INTS9 P166S INVS A10V INVS K310I IP6K1 R124W IP6K3_ENST00000451316 A240V IP6K3_ENST00000451316 R320H IPO11 H230D IPO11 P679L IPO13 R310H IPO13 R321Q IPO13 V713F IPO4 A262V IPO4 R958P IPO4 V680M IPO5 P757S IPO5 Y499H IPP M471I IPP R333Q IPP T360S IPPK S313L IPPK W230R IQCA1 R82H IQCA1_ENST00000409907 R82H IQCB1 E101D IQCB1 R384W IQCC R38Q IQCD E189G IQCE A424V IQCF1 R141C IQCF3 R45H IQCF3_ENST00000456080 R45H IQCH D592H IQCH I141K IQCH R652H IQCJ-SCHIP1 K438N IQGAP1 D1311G IQGAP1 Q904K IQGAP1 Q954R IQGAP1 S804P IQGAP2 A398T IQGAP2 D952G IQGAP2 R982H IQGAP3 E1295G IQSEC1 G425C IQSEC1 R884L IQUB A10S IQUB R563I IQUB R735H IQUB V126M IRAK1 L692F IRAK1 S690G IRAK2 V446M IRAK2_ENST00000256458 V446M IRAK3 D493N IRAK3 M314I IRAK3 R267Q IRAK3 V367A IRAK4_ENST00000448290 R12C IREB2 I93T IREB2 R419Q IREB2 V793L IRF2 R9C IRF2 W58R IRF2BPL H466N IRF4_ENST00000380956 G202S IRF4_ENST00000380956 S48R IRF6 E92K IRGQ R214H IRS1 G451C IRS1 P1205A IRS1 R1140H IRS1 V154M IRS4 A20V IRS4 A640D IRS4 A640G IRS4 A640V IRS4 E392K IRS4 G571R IRS4 G571S IRS4 P971L IRS4 R411Q IRX1 A480T IRX1 T113M IRX2 R169C IRX6 A44E IRX6 K176R IRX6 R203H ISG20L2 V325A ISL1 Q300H ISLR D183N ISOC2 E178K ISX C2F ISX Q74L ISX R86C ISYNA1 A478V ITCH E855K ITFG1 G54W ITFG1 R521H ITGA1 A251T ITGA1 A668V ITGA1 P970S ITGA10 L1139P ITGA10 R1117W ITGA10 V569G ITGA11 C668F ITGA11 M163I ITGA2 R553Q ITGA2B A164V ITGA2B R889L ITGA2_ENST00000296585 R553Q ITGA3 S235P ITGA4 F900L ITGA4 P11L ITGA4 R565W ITGA4 S831Y ITGA4 T673M ITGA5 V335I ITGA7 D489N ITGA7_ENST00000553804 D493N ITGA8 G616C ITGA8 P97T ITGA8 R895Q ITGA9 E1025G ITGA9 R750C ITGAD E1096K ITGAD F1005L ITGAD S899R ITGAD V653I ITGAE R704C ITGAL R144C ITGAL R613W ITGAM G649R ITGAM R844H ITGAV A415T ITGAV L23I ITGAV L339P ITGAV R775K ITGAX E410K ITGAX E932K ITGAX R520H ITGAX R550Q ITGAX R685C ITGAX R685H ITGAX R954K ITGAX Y511C ITGB1 N403D ITGB1BP2 K68E ITGB1_ENST00000396033 N403D ITGB2 R737C ITGB2 T708I ITGB2 V439M ITGB3 A776V ITGB3 G484E ITGB3 M144I ITGB3 R378C ITGB3 T629I ITGB3 V691I ITGB3_ENST00000435993 G437E ITGB3_ENST00000435993 M97I ITGB6 K404N ITGB8 C607R ITGB8 C607Y ITGB8 R185C ITGB8 R57M ITGB8_ENST00000222573 C607R ITGB8_ENST00000222573 R185C ITGB8_ENST00000222573 R57M ITGBL1 P257L ITGBL1 Y442F ITIH2 I417T ITIH2 I678V ITIH3 R28Q ITIH3_ENST00000449956 R28Q ITIH3_ENST00000449956 V869I ITIH4 G663R ITIH4 M712V ITIH4 R910C ITIH5 A912T ITIH5L R200C ITK E196K ITK K119E ITK P159L ITK R29L ITK R451W ITK R96H ITLN2 N184D ITPA V24I ITPKB T435A ITPKB_ENST00000429204 T909A ITPR1 A1223V ITPR1 A2054T ITPR1 A2304T ITPR1 E1835Q ITPR1 N2096D ITPR1 N2096S ITPR1 R1393C ITPR1 S421P ITPR1_ENST00000302640 A1232V ITPR1_ENST00000302640 E1883Q ITPR1_ENST00000302640 N2144D ITPR1_ENST00000302640 N2144S ITPR1_ENST00000302640 R1402C ITPR1_ENST00000302640 S421P ITPR1_ENST00000357086 A1238V ITPR1_ENST00000357086 E1850Q ITPR1_ENST00000357086 N2111D ITPR1_ENST00000357086 N2111S ITPR1_ENST00000357086 R1408C ITPR1_ENST00000357086 S436P ITPR2 D1051G ITPR2 I405V ITPR2 R558C ITPR2 T2157A ITPR2 V2350M ITPR3 A821T ITPR3 D2317N ITPR3 G2279E ITPR3 R2606Q ITPR3 R527C ITPR3 T2329A ITPR3_ENST00000374316 A821T ITPR3_ENST00000374316 G2279E ITPR3_ENST00000374316 T2329A ITPRIPL1 P103L ITPRIPL1 R214H ITPRIPL1 T85P ITSN1 L1487P ITSN1 R830C ITSN2 G1311R ITSN2 R1433W ITSN2 S330P ITSN2_ENST00000406921 S330P IVD H111Y IVD T55A IVL E227Q IVL K148T IVL M280V IVL P176Q IVL P236S IVL P560T IVNS1ABP C32R IVNS1ABP R383Q IZUMO1 K48T JAG1 A462T JAG1 N966K JAG1_ENST00000254958 A462T JAG1_ENST00000254958 N966K JAG2 D538N JAK1 A634D JAK1 M828T JAK1 R724H JAK1 S512L JAK1 S646F JAK1 S703T JAK1 T782M JAK1 V310I JAK1 V658F JAK1 Y652H JAK2 C618R JAK2 D620E JAK2 D873N JAK2 F537I JAK2 G571S JAK2 H538R JAK2 H587R JAK2 H606Q JAK2 I166T JAK2 I540T JAK2 I682F JAK2 I682T JAK2 K539E JAK2 K539L JAK2 L611S JAK2 L611V JAK2 L624P JAK2 N1108S JAK2 N533D JAK2 P933R JAK2 R1122P JAK2 R564L JAK2 R564Q JAK2 R683G JAK2 R683K JAK2 R683S JAK2 R683T JAK2 R867Q JAK2 T514A JAK2 T514M JAK2 T875N JAK2 V617F JAK3 A572V JAK3 A573V JAK3 E183G JAK3 G1101R JAK3 G62S JAK3 L527P JAK3 M511I JAK3 M511T JAK3 Q501H JAK3 R172Q JAK3 R172W JAK3 R657Q JAK3 S789P JAK3 V722I JAK3_ENST00000458235 E183G JAK3_ENST00000458235 M511I JAK3_ENST00000458235 M511T JAK3_ENST00000458235 R172W JAKMIP1 A375V JAKMIP1 A527T JAKMIP1 E13K JAKMIP1 E296G JAKMIP1 R362W JAKMIP1 R63Q JAKMIP1 R6W JAKMIP1_ENST00000409021 A527T JAKMIP1_ENST00000409021 E13K JAKMIP1_ENST00000409021 E296G JAKMIP1_ENST00000409021 R63Q JAKMIP1_ENST00000409021 R6W JAKMIP2 L645V JAKMIP2 R142Q JAKMIP2 R204W JAKMIP2 R317W JAKMIP3 E205K JAM3 R236H JAM3 V88E JARID2 R1221C JHDM1D D686G JKAMP_ENST00000356057 F171L JMJD1C E826V JMJD1C L807F JMJD1C N2195D JMJD1C N2195S JMJD1C Y1431C JMJD1C_ENST00000399262 E1045V JMJD1C_ENST00000399262 L1026F JMJD1C_ENST00000399262 N2432D JMJD1C_ENST00000399262 N2432S JMJD1C_ENST00000399262 Y1650C JMJD5 V402M JMJD5_ENST00000441782 V440M JMJD6 R62L JMJD6 R62W JMJD6_ENST00000445478 R62L JMJD6_ENST00000445478 R62W JOSD1 D102G JOSD1 V115I JPH1 A275T JPH1 G317D JPH1 S592P JPH2 G73D JPH2_ENST00000342272 G73D JPH3 A184V JPH3 G143S JSRP1 E9K JUN E112K JUNB R250L K0401_HUMAN R819H KAL1 V303I KALRN H294N KALRN R1125W KALRN R213W KALRN R313W KALRN T114M KALRN T352M KALRN V743D KALRN_ENST00000360013 H294N KALRN_ENST00000360013 R1125W KALRN_ENST00000360013 R2962H KALRN_ENST00000360013 R313W KALRN_ENST00000360013 T114M KALRN_ENST00000360013 T352M KALRN_ENST00000360013 V2585M KALRN_ENST00000360013 V743D KANK1 G471S KANK1 L960P KANK1 R468W KANK1_ENST00000382303 G629S KANK1_ENST00000382303 L1118P KANK1_ENST00000382303 R626W KANK3 L782Q KANK4 E177D KANK4 G981A KANK4 R71Q KANK4 S792L KARCA1 S171R KAT2A K124E KAT2B R490H KAT2B V153A KATNAL1 A464V KATNAL1 R290C KATNAL2 R264W KAZALD1 G280D KAZN R390C KBTBD10 N441S KBTBD3 F54L KBTBD3 P325S KBTBD5 N345S KBTBD6 P251A KBTBD6 T403K KBTBD8 V523I KCMF1_ENST00000409785 A224T KCNA1 A349V KCNA1 L435V KCNA1 N412S KCNA1 V388M KCNA10 R152W KCNA10 R200H KCNA10 R356C KCNA10 T61M KCNA10 V417I KCNA2 F241L KCNA3 A267T KCNA3 A415V KCNA3 G468S KCNA3 R105H KCNA4 E188K KCNA4 F566L KCNA4 L589F KCNA5 G300S KCNA5 T311K KCNA6 A177T KCNA6 A397T KCNA6 V179I KCNA6 V438M KCNAB1 G114A KCNAB1_ENST00000471742 A41V KCNB1 E561Q KCNB1 R294H KCNB1 T65M KCNB1 V446I KCNB2 A234E KCNB2 D168H KCNB2 E474K KCNB2 R231H KCNB2 R298C KCNB2 R330W KCNB2 R491W KCNB2 V450A KCNB2 V450I KCNC2 E193D KCNC2 L298F KCNC2 R18W KCNC2 R207C KCNC2_ENST00000549446 L298F KCNC2_ENST00000549446 R18W KCNC4 F235L KCNC4 R262H KCNC4 S336C KCNC4_ENST00000438661 F235L KCND1 P639H KCND2 A2V KCND2 A345T KCND2 P10H KCND2 R140H KCND2 R254H KCND3 R293C KCND3 S438L KCND3 T204M KCND3 T57M KCND3 V234I KCND3 V94M KCNE4 E35K KCNE4 G122V KCNG1 E376K KCNG1 P5L KCNG1 R346Q KCNG1 R64W KCNG4 G121W KCNG4 V308M KCNH1 K554N KCNH1 K554R KCNH1 L516P KCNH1 P733L KCNH1 S879L KCNH1 V798I KCNH1 V894M KCNH2 R744Q KCNH2 V630I KCNH2_ENST00000430723 V630I KCNH4 P505L KCNH4 R298H KCNH4 R340W KCNH4 R586H KCNH5 E886G KCNH5 E916K KCNH5 R160Q KCNH5 R673W KCNH5 R677C KCNH5 R691W KCNH5 T147M KCNH5 T202M KCNH6 A353T KCNH6 H969N KCNH7 E685G KCNH7 F470L KCNH7 L413R KCNH7 L828P KCNH7 R264K KCNH7 R543L KCNH7_ENST00000328032 E678G KCNH7_ENST00000328032 F463L KCNH8 E89D KCNH8 K90I KCNIP2 D94N KCNIP2_ENST00000348850 D34N KCNIP4 V45I KCNIP4_ENST00000382148 V41I KCNIP4_ENST00000382152 V66I KCNIP4_ENST00000447367 V32I KCNJ12 D247N KCNJ12 E378K KCNJ12 E56A KCNJ12 R356H KCNJ12 R356S KCNJ12 R43H KCNJ12 S343L KCNJ12 T354M KCNJ15 V29I KCNJ16 L83I KCNJ16 T232M KCNJ4 M43V KCNJ5 C363R KCNJ5 E45K KCNJ6 D79N KCNJ6 K299E KCNK1 V160A KCNK1 V160I KCNK10 P428L KCNK10 R232W KCNK10 T276M KCNK10_ENST00000312350 P433L KCNK10_ENST00000312350 R237W KCNK10_ENST00000312350 T281M KCNK10_ENST00000319231 P433L KCNK10_ENST00000319231 T281M KCNK13 V194M KCNK15 T121M KCNK18 R174H KCNK2 G155S KCNK2 L58V KCNK2_ENST00000444842 G170S KCNK2_ENST00000444842 L73V KCNK2_ENST00000444842 S6W KCNK5 A407T KCNK6 T266M KCNK9 A265T KCNK9 A288V KCNK9 P218L KCNK9 R137H KCNK9 R310C KCNK9 R310H KCNMA1 F213S KCNMA1 T834M KCNMA1_ENST00000406533 F213S KCNMA1_ENST00000406533 T896M KCNMB1 V146I KCNMB2 L200P KCNMB2 R232W KCNMB4 F209L KCNN1 V137I KCNN1_ENST00000222249 V137I KCNN2 A326T KCNN3 R362C KCNN3 R398L KCNN4 E45G KCNQ2 A707T KCNQ2 A825E KCNQ2 D563N KCNQ2 S352L KCNQ2 T274M KCNQ3 E283G KCNQ3 R188W KCNQ4 V248M KCNQ5 A704V KCNQ5 R244C KCNQ5 R244H KCNQ5 R632Q KCNQ5 T228M KCNQ5 T693M KCNQ5 V276A KCNS2 R301W KCNS2 R419C KCNS2 V269I KCNS3 D464G KCNS3 D464N KCNS3 R168L KCNS3 R168Q KCNS3 R168W KCNS3 V200M KCNT1 R365H KCNT1 T465A KCNT2 R1023G KCNT2 R1117Q KCNT2 T910R KCNT2 V33I KCNT2 V977A KCNT2 Y279N KCNU1 A239V KCNU1 E558K KCNU1 R713W KCNU1_ENST00000399881 A239V KCNU1_ENST00000399881 E558K KCNU1_ENST00000399881 R713W KCNV1 F498L KCNV1 L335F KCNV1 V355M KCNV2 A524T KCNV2 E56K KCNV2 G486R KCP C802R KCTD1 R244H KCTD1 T156M KCTD14 A206S KCTD16 E396G KCTD16 R191Q KCTD16 R217Q KCTD16 R344H KCTD18 R32H KCTD1_ENST00000417602 R852H KCTD21 A19V KCTD21 T122M KCTD21 V211L KCTD3 Q502R KCTD3 R117H KCTD3 R137H KCTD5 L202P KCTD8 P39H KCTD8 R407C KDELC1 G309V KDELC1 L447I KDELR1 T148P KDELR1 Y198C KDELR2 L203P KDELR2 V100I KDELR2_ENST00000490996 S119L KDELR2_ENST00000490996 S119P KDM1A E403K KDM2B A556T KDM2B C263Y KDM2B H438R KDM2B_ENST00000377071 A917T KDM2B_ENST00000377071 C624Y KDM2B_ENST00000377071 H799R KDM2B_ENST00000377071 N334K KDM2B_ENST00000377071 R158H KDM3A D187H KDM3A K490Q KDM3A S1124C KDM3A_ENST00000409556 K490Q KDM3B E460K KDM3B H83R KDM3B Q1675H KDM4C D396N KDM4C_ENST00000381306 D396N KDM4D K337R KDM4D V214L KDM4E R100H KDM4E_ENST00000450979 R100H KDM5A D920Y KDM5A E1384K KDM5A R604C KDM5A R696W KDM5A_ENST00000399788 D920Y KDM5A_ENST00000399788 E1384K KDM5A_ENST00000399788 R604C KDM5A_ENST00000399788 R696W KDM5B_ENST00000367265 E528K KDM5B_ENST00000367265 K1435R KDM5B_ENST00000367265 L741P KDM5B_ENST00000367265 R1245C KDM5B_ENST00000367265 R1253Q KDM5B_ENST00000367265 R1416G KDM5C C1188S KDM5C E1274K KDM5C R179C KDM5C R179H KDM5C S1222P KDM5C S643P KDM5C_ENST00000375401 R179C KDM5C_ENST00000375401 S1222P KDM5C_ENST00000375401 S643P KDM5C_ENST00000452825 R112C KDM5C_ENST00000452825 S1155P KDM5C_ENST00000452825 S576P KDM5D L1077I KDM5D S114N KDM6A G771D KDM6A L1106P KDM6A L1310P KDM6A L977I KDM6A L977P KDM6A R1074G KDM6A R1279Q KDM6A V607M KDM6B C1478G KDM6B H1137N KDR A973S KDR D1259N KDR D180G KDR D180N KDR G1015D KDR G1145R KDR R1032Q KDR R275L KDR T771R KDR V1041M KEAP1 E218Q KEAP1 G480W KEAP1 R470C KEAP1 V155F KEL A473S KEL D226G KEL M301I KEL W537C KERA R279Q KHDRBS2 A24V KHDRBS2 A266V KHDRBS2 H150R KHDRBS2 H150Y KHDRBS3 D285N KHDRBS3 R86C KHNYN M130I KHNYN P113H KIAA0090 F316L KIAA0090 S287F KIAA0146 P24S KIAA0182 R627W KIAA0196 R191L KIAA0226 R542W KIAA0226L E640K KIAA0226L R448Q KIAA0226_ENST00000273582 R497W KIAA0232 N253D KIAA0240 R811H KIAA0284_ENST00000414716 V1506M KIAA0317 E285K KIAA0317 H101R KIAA0319 Q169K KIAA0319 Q578R KIAA0319 R748I KIAA0355 P813H KIAA0408 G368C KIAA0408 T95M KIAA0415 P52L KIAA0415 R392H KIAA0415_ENST00000450194 P919L KIAA0415_ENST00000450194 R1259H KIAA0415_ENST00000450194 R332W KIAA0430 D1623N KIAA0430 F495L KIAA0467_ENST00000372442 R1977W KIAA0467_ENST00000372442 R1980C KIAA0467_ENST00000372442 R823H KIAA0513 R229L KIAA0528 F270L KIAA0528 R181Q KIAA0528 R183C KIAA0556 G564E KIAA0556 R1082W KIAA0556 R1184W KIAA0556 R1617L KIAA0556 S490P KIAA0556_ENST00000261588 G564E KIAA0556_ENST00000261588 R1082W KIAA0556_ENST00000261588 R1617L KIAA0556_ENST00000261588 S490P KIAA0564 R260Q KIAA0564 R664Q KIAA0701 T438A KIAA0701 T438I KIAA0748 D125G KIAA0748 D125N KIAA0748 R46Q KIAA0748_ENST00000449076 D263G KIAA0748_ENST00000449076 R184Q KIAA0753 E389K KIAA0753 E413Q KIAA0776 R535C KIAA0776 S413G KIAA0776 T531M KIAA0825 R305C KIAA0825_ENST00000513200 K545R KIAA0825_ENST00000513200 R305C KIAA0889 G680C KIAA0889 R603C KIAA0889_ENST00000279034 A441V KIAA0889_ENST00000279034 R365C KIAA0895 A282T KIAA0895 R354C KIAA0895_ENST00000338533 A269T KIAA0895_ENST00000338533 R341C KIAA0913 A754T KIAA0913 D81N KIAA0913_ENST00000398706 A1374T KIAA0913_ENST00000398706 D701N KIAA0913_ENST00000398706 R144W KIAA0913_ENST00000398706 V1313I KIAA0913_ENST00000412131 A1369T KIAA0913_ENST00000412131 D701N KIAA0913_ENST00000412131 R144W KIAA0922 S201Y KIAA0922_ENST00000409959 S349Y KIAA0947 E700K KIAA0947_ENST00000296564 E700K KIAA1009 S544L KIAA1024 G672R KIAA1024 Q495H KIAA1024 T852M KIAA1024 V73A KIAA1033 E1100G KIAA1033 M495V KIAA1033 R982Q KIAA1045 A248V KIAA1107 S773Y KIAA1109 A535T KIAA1109 F4223S KIAA1109 K1417N KIAA1109 P1460L KIAA1109 P1783T KIAA1109 R2491T KIAA1109 R806L KIAA1109 R994H KIAA1109 S4937Y KIAA1109 T1744M KIAA1147 A149V KIAA1161 R374C KIAA1199 G479R KIAA1210 R347Q KIAA1210 S960Y KIAA1217 R1188W KIAA1239 A1563T KIAA1244 E427K KIAA1244 Q41R KIAA1244_ENST00000251691 Q112R KIAA1267 A292T KIAA1267 E647K KIAA1267 T166A KIAA1274 E166K KIAA1274 G154R KIAA1328 A481V KIAA1328 D313N KIAA1370 I651M KIAA1370 R31Q KIAA1377 R963Q KIAA1377 S547Y KIAA1407 E246G KIAA1409 A2404T KIAA1409 D1092G KIAA1409 G1847R KIAA1409 P1506L KIAA1409 R391C KIAA1409 S3L KIAA1409 S901P KIAA1432 P619A KIAA1432 R1186W KIAA1462 A33V KIAA1468 Q579K KIAA1486 A459T KIAA1486 C292S KIAA1486 D32G KIAA1486 D32N KIAA1486 G126V KIAA1486 Q263E KIAA1486 R197Q KIAA1486 S648L KIAA1522 A277V KIAA1529 R136W KIAA1529 R171Q KIAA1529 R581H KIAA1529 R774C KIAA1529 T994I KIAA1539 G209V KIAA1539 N221S KIAA1543 D1224N KIAA1549_ENST00000242365 R1225Q KIAA1549_ENST00000422774 R1275Q KIAA1549_ENST00000422774 R617G KIAA1549_ENST00000422774 T364A KIAA1671 Q627H KIAA1683 Y354H KIAA1751 K97N KIAA1751 L63F KIAA1755 A705T KIAA1755 G1175D KIAA1755 G295D KIAA1755 R997H KIAA1772 S258L KIAA1797 A1572T KIAA1797 D3G KIAA1797 G792W KIAA1797 M1563I KIAA1797 P954L KIAA1797 S126G KIAA1804 R345W KIAA1804 R477W KIAA1804 V474M KIAA1853 T134M KIAA1913 S212Y KIAA1919 P381S KIAA1967 R203C KIAA2018 D911Y KIAA2018 E1171D KIAA2018 N1016H KIAA2018 Q1188L KIAA2018 R1788H KIAA2018 R2094Q KIAA2022 E1460G KIAA2022 E1468G KIAA2022 L429P KIAA2022 R1243H KIAA2022 R1449H KIAA2022 R547H KIAA2026 I1065N KIAA2026_ENST00000399933 I1890N KIAA2026_ENST00000399933 R574C KIDINS220 E1655K KIDINS220 R604I KIDINS220 V1040L KIF11 A37T KIF13A L610V KIF13A R1361Q KIF13A_ENST00000259711 L610V KIF13A_ENST00000259711 R1361Q KIF14 E1455G KIF14 P1552S KIF14 R1336T KIF14 R598Q KIF14 R699H KIF16B E1237K KIF16B K772E KIF16B K772R KIF16B M590L KIF16B R1014G KIF16B R145Q KIF16B T419A KIF16B_ENST00000408042 K772E KIF16B_ENST00000408042 K772R KIF16B_ENST00000408042 M590L KIF16B_ENST00000408042 R1014G KIF16B_ENST00000408042 T419A KIF17 E888K KIF17 R442C KIF17 S884P KIF17 V79I KIF18A R17C KIF19 A804T KIF1A D231E KIF1A R1158C KIF1A R1515W KIF1A R1529L KIF1A R1529W KIF1A S1590P KIF1B C853F KIF1B R675Q KIF1B_ENST00000377093 R1091C KIF1C D623N KIF20A R772C KIF20B E951K KIF21A A1043S KIF21A G898C KIF21A L722P KIF21A R1633Q KIF21A R408T KIF21A S296C KIF21B A118T KIF21B K373R KIF21B M1319I KIF21B R1619H KIF21B R958W KIF21B V1602I KIF23 E831K KIF23 R288H KIF25 M1L KIF25 W3R KIF26A R1227H KIF26B A517T KIF26B A776V KIF26B D2102N KIF26B R2024H KIF26B_ENST00000407071 A1114V KIF26B_ENST00000407071 A188T KIF26B_ENST00000407071 A517T KIF26B_ENST00000407071 A776V KIF26B_ENST00000407071 D2102N KIF26B_ENST00000407071 R2024H KIF27 R623Q KIF27 R939C KIF2B A112T KIF2B A537S KIF2B D579E KIF2B D608G KIF2B N261K KIF2B R110C KIF2B R174C KIF2B T113M KIF2B T320M KIF2B V216I KIF2C A614V KIF2C I56V KIF3A A556G KIF3A_ENST00000378735 A559G KIF3B Y292C KIF4A A13V KIF4A G1060D KIF4B R762H KIF4B_ENST00000435029 R762H KIF5A A261V KIF5A E597V KIF5A G568R KIF5A R144C KIF5A R718W KIF5A T767I KIF5C E627K KIF5C V387L KIF6 A386E KIF6 D714V KIF6 R292H KIF6 R292S KIF6_ENST00000287152 D714V KIF6_ENST00000287152 R292S KIF7 R328W KIF7_ENST00000394412 R841W KIF9 D572N KIFC2 S133G KIN K120R KIR2DL1 R71H KIR2DL1 R89H KIR2DL3 G188D KIR2DL3 P323S KIR2DL3 R318H KIR2DL4 L166R KIR2DL4 P126L KIR2DL4 R137H KIR2DL4_ENST00000345540 L166R KIR2DL4_ENST00000345540 R137H KIR2DS4 K156R KIR2DS4 R62K KIR3DL1_ENST00000391728 F150I KIR3DL1_ENST00000402254 F150I KIR3DL3 A174V KIR3DL3 F280L KIR3DX1 T186M KIRREL R450C KIRREL R462H KIRREL2 R111H KIRREL2 R149H KIRREL2 R336H KIRREL2 R361P KIRREL2 S234L KIRREL2_ENST00000262625 R111H KIRREL2_ENST00000262625 R149H KIRREL2_ENST00000262625 R361P KIRREL2_ENST00000262625 S234L KIRREL3 R187C KIRREL_ENST00000359209 R614C KIRREL_ENST00000359209 R626H KIRREL_ENST00000368173 R630C KIRREL_ENST00000368173 R642H KIT A599T KIT A814S KIT A829P KIT A829T KIT C809G KIT D419G KIT D496V KIT D52G KIT D52N KIT D572G KIT D572N KIT D579E KIT D579N KIT D816A KIT D816E KIT D816F KIT D816G KIT D816H KIT D816I KIT D816N KIT D816V KIT D816Y KIT D820A KIT D820E KIT D820G KIT D820H KIT D820N KIT D820V KIT D820Y KIT D910G KIT E338K KIT E53K KIT E554K KIT E561G KIT E561K KIT E562K KIT E562V KIT E583V KIT E73G KIT E839K KIT E861G KIT F469L KIT F504L KIT F506L KIT F584L KIT F584S KIT G565R KIT G664R KIT G961S KIT H580Y KIT H697R KIT H697Y KIT I817T KIT I817V KIT K509I KIT K509R KIT K550N KIT K550R KIT K558E KIT K558N KIT K558Q KIT K558R KIT K642E KIT K818R KIT L576F KIT L576P KIT L859P KIT M541I KIT M541L KIT M552I KIT M552L KIT M552T KIT M552V KIT N130S KIT N326S KIT N486D KIT N495I KIT N495S KIT N512D KIT N512S KIT N564S KIT N566D KIT N566S KIT N567H KIT N567K KIT N655K KIT N822H KIT N822I KIT N822K KIT N822S KIT N822Y KIT P31L KIT P456L KIT P456S KIT P551L KIT P573L KIT P577L KIT P577S KIT P627L KIT Q556H KIT Q556R KIT R49H KIT R796G KIT R804W KIT R888Q KIT R956Q KIT S476I KIT S590N KIT S639P KIT S821F KIT T574A KIT T632I KIT T670E KIT T670I KIT V50M KIT V530I KIT V555I KIT V559A KIT V559D KIT V559F KIT V559G KIT V559I KIT V560A KIT V560D KIT V560E KIT V560G KIT V569A KIT V569I KIT V643A KIT V654A KIT V654E KIT V825A KIT V825I KIT V833L KIT W557C KIT W557G KIT W557R KIT W557S KIT Y418N KIT Y553C KIT Y553N KIT Y568C KIT Y568D KIT Y568S KIT Y823C KIT Y823D KIT Y823N KL P954L KL R920H KLB F369L KLC2 A440S KLC3 T282A KLC4 R69W KLC4 W425R KLC4_ENST00000458460 R69W KLF10 A430V KLF11 F329L KLF12 K335R KLF15 S82T KLF15 V415M KLF17 Q242R KLF17_ENST00000372299 Q242R KLF3 C322F KLF3 P139L KLF3 R257W KLF3 R341H KLF4 K409Q KLF5 E419Q KLF5 M281I KLF5 P301S KLF8 R354H KLHDC1 G86R KLHDC4 R456C KLHDC5 G308E KLHDC7B L478F KLHDC9 R318H KLHDC9 S171R KLHL10 C129R KLHL10 C446R KLHL10 D268G KLHL10 D268N KLHL10 E580K KLHL10 R287H KLHL10 S252N KLHL11 Q237K KLHL13 A519V KLHL14 R452C KLHL14 V367I KLHL17 G196C KLHL20 S219C KLHL20 V453A KLHL21 R571C KLHL21 V509I KLHL22 S18P KLHL24 V527I KLHL26 K491Q KLHL26 R278H KLHL34 R68H KLHL36 R12Q KLHL38 A427T KLHL38 T526M KLHL4 M401I KLHL4 R57W KLHL5 R115Q KLHL5 R326C KLHL6 S607L KLHL6 T274M KLHL6 T64S KLK1 E260D KLK10 W268L KLK10 W268R KLK12 R87Q KLK13 R190H KLK2 P237S KLK2 P57T KLK3 E238K KLK7 K97T KLK8 P86L KLK8 R127C KLK8 V286I KLKB1 I199V KLKB1 R327H KLKB1 T520A KLKB1_ENST00000264690 I199V KLKB1_ENST00000264690 R327H KLKB1_ENST00000264690 T520A KLRAQ1 Q617L KLRAQ1 S472L KLRB1 L43R KLRB1 S225C KLRC3 I58V KLRC3 N149S KLRF1 K72R KLRG1 S175R KLRG2 G339A KMO L272P KMO M208I KMO S392L KNDC1 L1171P KNG1 L282M KNG1_ENST00000265023 L282M KNG1_ENST00000265023 L441I KNTC1 I736T KNTC1 V1287A KPNA2 R13H KPNA2 R29C KPNA4 R29Q KPNA5 F48L KPNA5 F48S KPNB1_ENST00000290158 L552F KPRP E116D KPRP R10C KPRP R312H KPRP R496H KPRP R554Q KPRP V150G KRAS A11P KRAS A11V KRAS A146P KRAS A146T KRAS A146V KRAS A18D KRAS A59E KRAS A59G KRAS A59T KRAS D57N KRAS D69G KRAS E63K KRAS G12A KRAS G12C KRAS G12D KRAS G12E KRAS G12F KRAS G12I KRAS G12L KRAS G12N KRAS G12R KRAS G12S KRAS G12V KRAS G12W KRAS G12Y KRAS G13A KRAS G13C KRAS G13D KRAS G13E KRAS G13N KRAS G13R KRAS G13S KRAS G13V KRAS G15S KRAS G60D KRAS I24N KRAS K117N KRAS K5N KRAS K5R KRAS L19F KRAS M72T KRAS M72V KRAS P34L KRAS Q22K KRAS Q22R KRAS Q61E KRAS Q61H KRAS Q61K KRAS Q61L KRAS Q61P KRAS Q61R KRAS R164Q KRAS R68S KRAS S17G KRAS T58I KRAS V14G KRAS V14I KRAS_ENST00000256078 A146T KRAS_ENST00000256078 D69G KRAS_ENST00000256078 G12A KRAS_ENST00000256078 G12C KRAS_ENST00000256078 G12D KRAS_ENST00000256078 G12R KRAS_ENST00000256078 G12S KRAS_ENST00000256078 G12V KRAS_ENST00000256078 G13C KRAS_ENST00000256078 G13D KRAS_ENST00000256078 K117N KRAS_ENST00000256078 K5R KRAS_ENST00000256078 L19F KRAS_ENST00000256078 M72T KRAS_ENST00000256078 M72V KRAS_ENST00000256078 Q61H KRAS_ENST00000256078 Q61K KRAS_ENST00000256078 Q61R KRAS_ENST00000256078 S17G KRCC1 N76S KREMEN1 A339S KREMEN1 G286R KREMEN1 S421F KRI1 R334G KRIT1 R382T KRIT1 V710E KRIT1 Y123F KRR1 R254C KRT1 D248G KRT1 D248N KRT1 E434K KRT1 I312T KRT1 R29C KRT10 R194H KRT12 R225C KRT13 A124T KRT13 A130T KRT13 R456C KRT13 R456H KRT13 V204M KRT14 Q348R KRT15 V205I KRT2 N400S KRT2 R341H KRT20 Q329L KRT20 R348C KRT222 R60C KRT23 E376G KRT24 R150C KRT25 L198P KRT27 A70V KRT28 A264V KRT31 R405H KRT31_ENST00000251645 R405H KRT33A A305D KRT34 A415T KRT34 A76V KRT34 A81T KRT35 K233N KRT38 T422M KRT4 R475C KRT5 G108S KRT5 R352H KRT6A V140I KRT6B R182W KRT72 G378W KRT72 V414M KRT73 P100L KRT73 R212H KRT73 R46Q KRT73 T196M KRT73 T248M KRT75 R452H KRT78 R288Q KRT79 F105L KRT8 R23C KRT8 S31A KRT81 A360D KRT81 R387S KRT81 S13R KRT82 R177Q KRT83 A365D KRT83 G69S KRT83 V88I KRT84 A352T KRT84 R32W KRT85 E430K KRT86 A404T KRT9 H375Y KRT9 R261W KRTAP1-1 Y86C KRTAP1-5 G92R KRTAP1-5 I88T KRTAP10-10 T55A KRTAP10-11 S166P KRTAP10-2 N15D KRTAP10-5 A55V KRTAP10-5 A80T KRTAP10-5 I228M KRTAP10-5 I228V KRTAP10-5 T66I KRTAP10-6 H268Q KRTAP10-6 S4C KRTAP10-6 V230M KRTAP10-8 P96A KRTAP11-1 R87P KRTAP12-3 S49P KRTAP13-1 E62D KRTAP13-1 E62G KRTAP13-3 M87V KRTAP13-3 N33S KRTAP15-1 L47I KRTAP19-4 R33C KRTAP19-4 T70M KRTAP19-5 G67R KRTAP19-5 R33C KRTAP20-1 S52L KRTAP20-1 S52P KRTAP21-1 G15S KRTAP21-1 Y58C KRTAP22-1 G12V KRTAP24-1 S82C KRTAP26-1 R172H KRTAP27-1 E96K KRTAP27-1 F70L KRTAP27-1 M124I KRTAP27-1 P183L KRTAP4-1 R123H KRTAP4-11 H136R KRTAP4-11 K86R KRTAP4-11 L161V KRTAP4-11 M93V KRTAP4-11 R121K KRTAP4-11 R51K KRTAP4-11 R68S KRTAP4-11 S140C KRTAP4-11 S48R KRTAP4-11 S83R KRTAP4-2 C35S KRTAP4-2 R102H KRTAP4-2_ENST00000458321 C152S KRTAP4-2_ENST00000458321 R119H KRTAP4-4 H62R KRTAP4-5 C61S KRTAP4-5 C79S KRTAP4-5 C91F KRTAP4-5 S134Y KRTAP4-5 S74C KRTAP4-6 R47K KRTAP4-6 R62H KRTAP4-6 S127P KRTAP4-6 V42M KRTAP4-7 L121V KRTAP4-7 M91V KRTAP4-7 S113C KRTAP4-7 S57P KRTAP4-8 C95S KRTAP4-8 R126H KRTAP4-8 S128R KRTAP4-8 S130C KRTAP4-8 V106M KRTAP4-8 Y40C KRTAP4-9 C30Y KRTAP4-9 D18V KRTAP4-9 E31Q KRTAP4-9 K136R KRTAP4-9 P97S KRTAP4-9 S65C KRTAP4-9_ENST00000377734 K124R KRTAP4-9_ENST00000377734 M82V KRTAP4-9_ENST00000377734 S57P KRTAP5-1 A166G KRTAP5-1 C162G KRTAP5-11 F137C KRTAP5-11 S72G KRTAP5-3 C17R KRTAP5-4 G112V KRTAP5-4 N210K KRTAP5-4 S166C KRTAP5-4 V92G KRTAP5-5 G61S KRTAP5-5 R17C KRTAP5-5 R17L KRTAP5-7 C120Y KRTAP6-2 G11S KRTAP6-3 G33R KRTAP9-4 R53H KRTAP9-9 S161Y KSR1 V676A KSR2 L465F KSR2 P221L KSR2 R429L KSR2 R855H KTN1_ENST00000416613 E113K KTN1_ENST00000416613 E687K KTN1_ENST00000416613 M1218L KTN1_ENST00000416613 M185I KYNU R28K KYNU_ENST00000375773 F305L KYNU_ENST00000375773 R28K L1CAM A123T L1CAM A164V L1CAM I97V L1CAM R386C L1CAM R473C L1CAM R971W L1CAM T186M L1CAM T595I L1CAM T627A L1CAM T851M L1TD1 E441G L1TD1 T86A L2HGDH Q169L L3MBTL1_ENST00000427442 A421S L3MBTL1_ENST00000427442 W507R L3MBTL2 E57K L3MBTL3 K506E L3MBTL3 S217L L3MBTL4 A212V L3MBTL4 R420C L3MBTL4 V43A LACTB M414I LAD1 R377W LAMA1 A2030V LAMA1 A208T LAMA1 A582V LAMA1 A74T LAMA1 D413G LAMA1 D413N LAMA1 E3061K LAMA1 G2995R LAMA1 K1723R LAMA1 P449S LAMA1 R2110H LAMA1 R549H LAMA1 S1916L LAMA2 D316Y LAMA2 E1764G LAMA2 E1980K LAMA2 R1687W LAMA2 R2786C LAMA3 C1465R LAMA3 D916V LAMA3 L2778S LAMA3 Q1950H LAMA3 R200W LAMA3_ENST00000269217 L1169S LAMA4 A551V LAMA4 H1451R LAMA4 L342I LAMA4 M1286I LAMA4 R1787C LAMA4 R214C LAMA5 R1573H LAMB1 A1440T LAMB1 I1521T LAMB1 R1769H LAMB2 R107H LAMB3 R245H LAMB3 R367H LAMB3 R450C LAMB3 R517H LAMB3 R598C LAMB4 C69Y LAMB4 D1219G LAMB4 G1239W LAMB4 N589K LAMB4 R281Q LAMB4 S185P LAMB4 T979A LAMC1 D835G LAMC1 K1594R LAMC1 P327R LAMC1 R1011C LAMC1 R1116C LAMC1 R255H LAMC1 R359C LAMC1 V549L LAMC2 R717W LAMC3 A1244T LAMC3 A435T LAMC3 R447C LAMC3 T1300M LAMP1 S335P LAMP1 S47C LAMP3 I48T LAMTOR1 R19W LANCL1 R41W LANCL2 D83H LANCL2 R392Q LANCL2 V219M LANCL3 Y302N LARGE A640T LARGE R9W LARP1 E412G LARP1B R70C LARP1B V631I LARP1_ENST00000336314 E335G LARP4 P465L LARP4 S660C LARP4B R444Q LARP4B R725H LARP6 A113T LARP7 R435G LARS2 T636M LAS1L R170H LAS1L S275L LAS1L T395A LASS3 D239G LASS3 D239N LASS3 D239Y LASS3 E84D LASS3 P280S LASS4 R116G LASS4 R76M LASS6 R275Q LAT2 R123W LATS1_ENST00000253339 R252G LATS1_ENST00000253339 R502C LATS1_ENST00000253339 T255A LATS1_ENST00000253339 V719A LATS1_ENST00000543571 R252G LATS1_ENST00000543571 R502C LATS1_ENST00000543571 T255A LATS1_ENST00000543571 V719A LAX1 S305G LBP L349P LBR A414T LBR F197V LBX1 R176W LCA5 K223N LCAP T313S LCE1C C33F LCE1C S6N LCE1C T17I LCE1F G107R LCE1F S54C LCE2B C110R LCE2C R85W LCE2D R79H LCE2D R85Q LCE3A P21Q LCE3D E49K LCE3D R64W LCE3D R65C LCE3E E49K LCE5A R75H LCK F163S LCK_ENST00000373564 F221S LCLAT1 R287W LCLAT1 R316C LCMT2 Y193C LCN1 E146G LCN9 V111A LCN9 V111I LCN9_ENST00000277526 V111A LCOR T13I LCP1 A471V LCT G1592V LCT H589Q LCT R1659Q LCT R1916Q LCT S1239L LCT S1387P LCT V716A LCTL G225V LDB1 R263Q LDB3 F605L LDB3_ENST00000429277 F610L LDHA T144A LDHA V209A LDHA_ENST00000396222 T144A LDHA_ENST00000396222 V209A LDHA_ENST00000540430 T173A LDHA_ENST00000540430 V238A LDHB D333Y LDHC R297Q LDHD W15C LDLR G636S LDLR N297S LDLRAD2 L148M LECT2 C25Y LEFTY2 T296P LELP1 C90F LELP1 P73A LELP1 R42C LELP1 S2L LEMD3 L703F LEMD3 P569H LEMD3 R735Q LENG1 R177H LENG8 A740T LEO1 D372N LEO1 D665E LEO1 R532H LEPRE1 A673T LEPRE1 D623G LEPRE1 G349E LEPRE1 G349R LEPRE1 N423S LEPRE1_ENST00000296388 A673T LEPRE1_ENST00000296388 D623G LEPRE1_ENST00000296388 G349R LEPRE1_ENST00000296388 N423S LEPREL1 D613G LEPREL1 E592G LEPREL2 R193C LEPREL2_ENST00000396725 R377C LGALS13 S29C LGALS14 S160F LGALS3BP A522T LGALS3BP D262G LGALS3BP R310K LGALS3BP S557F LGALS3BP T579I LGALS4 G151R LGALS8 V245I LGALS9C D27G LGI4 R124C LGR6 P928L LGSN A354V LHCGR A583T LHCGR D564G LHCGR D564N LHCGR I528L LHCGR I528T LHCGR M582I LHCGR M582T LHCGR R219H LHCGR T272M LHFP S191L LHFPL4 G79R LHX4 A324T LHX8 G320V LHX9 R40G LIFR E319K LIFR G817D LIFR R178C LIFR R508W LIFR R510C LIFR_ENST00000263409 E319K LIFR_ENST00000263409 R178C LIFR_ENST00000263409 R508W LIFR_ENST00000263409 R510C LIG1 K152E LIG1 K152R LIG1 S612L LILRA1 G24E LILRA2 I179V LILRA3 P25H LILRA4 A127T LILRA5 R77H LILRA6 R267G LILRA6 R367H LILRB1 D365G LILRB1 R95W LILRB2 R105W LILRB2 R483Q LILRB2 R570K LILRB3 M88I LILRB3 R143Q LILRB3 S590P LILRB5 A585S LILRB5 R495H LILRB5_ENST00000450632 R487H LIM2 S150T LIMA1 R9Q LIMA1 R9W LIMCH1 D367Y LIMCH1 R1061Q LIMCH1_ENST00000503057 D752Y LIMCH1_ENST00000503057 R1445Q LIMK1 R332H LIMK2 R203H LIMK2_ENST00000340552 R182H LIMS1 A18V LIN9 R306W LINC00470 A18S LINGO1 R284S LINGO1 V283I LINGO2 F149L LINGO2 R369Q LINGO2_ENST00000379992 F149L LINGO2_ENST00000379992 R369Q LINGO4 N70D LIPC G178S LIPG R315H LIPG R431C LIPG V269M LIPH D168N LIPI C289S LIPI R335G LIPM R91G LIPN R385Q LIPN Y364F LIX1 R186Q LIX1 R203C LIX1L K166N LL0XNC01-237H1_1 T168M LLGL1 G126C LLGL2 P759S LLGL2 R844W LLGL2 R944C LLGL2_ENST00000167462 P759S LLGL2_ENST00000167462 R844W LLPH D68G LMBR1 R44I LMBRD2 V317I LMCD1 G108V LMF1 R451Q LMF2 V621G LMO1 R95H LMO2 L87F LMO7 R415Q LMO7 R522H LMO7 T354A LMO7_ENST00000357063 R749Q LMO7_ENST00000357063 R856H LMO7_ENST00000465261 R571H LMOD1 E188G LMOD1 E311K LMOD2_ENST00000458573 R359H LMOD2_ENST00000458573 T281M LMOD3 D152E LMOD3_ENST00000420581 D152E LMTK2 A958T LMTK2 D484H LMTK2 P850L LMTK2 T840I LMTK2 V162A LMTK2_ENST00000297293 P850L LMTK2_ENST00000297293 T840I LMTK2_ENST00000297293 V162A LMTK3 G335E LMTK3 K385R LMTK3 L269P LMTK3 Y54C LMTK3_ENST00000270238 G349E LMTK3_ENST00000270238 K399R LMTK3_ENST00000270238 L283P LMX1A A102T LMX1A R194C LNPEP D372G LNPEP E40G LNPEP F403L LNPEP F974V LNPEP M493V LNPEP R515Q LNX1 A427T LNX1_ENST00000263925 A523T LNX2 E621G LOC148213 S436P LOC152485 R453C LOC165186 A129T LOC165186 K246T LOC223075 D255E LOC223075 F70Y LOC223075 R190Q LOC257106 R304H LOC257106 R445H LOC257106 V345G LOC284100 G43A LOC284100 T41N LOC286411 V7I LOC340578 E156G LOC340578 L391P LOC340578 P134L LOC340578 P334L LOC340578 R137W LOC340578 R263H LOC340578 R337C LOC340578 R337H LOC340578 R378H LOC401605 I90V LOC440345 D695N LOC440345 T655M LOC440345 V669L LOC441526 P29T LOC441526 V22L LOC442444 D576N LOC442444 G948W LOC442444 L778I LOC442444 N648D LOC442444 Q225E LOC442444 R367C LOC51059 L1116V LOC51059 R1211Q LOC51059 R1230Q LOC51059 R589S LOC51059 R701Q LOC51059 R884H LOC51059 T940M LOC51123 R3C LOC51123 R3P LOC51321 P338L LOC65121 P456L LOC65121 T53M LOC652153 A1989T LOC652153 A3170V LOC652153 E2083K LOC652153 E3282K LOC652153 E4136K LOC652153 H4221Y LOC652153 I2980F LOC652153 N2420S LOC652153 R1139C LOC652153 R224Q LOC652153 R2373G LOC652153 R2373M LOC652153 R451Q LOC652153 R939Q LOC652153 T2472P LOC652153 T3269I LOC652153 T3429M LOC652737 I586F LOC652737 N99S LOC652737 R52G LOC652737 R52M LOC652737 T151P LOC728194 R61H LOC728378 D124N LOC728378 K674N LOC728378 R66C LOC93081 R84W LOH12CR1 R45Q LOH12CR1 R45W LONRF2 R511Q LONRF3 A122G LOXHD1 G630S LOXHD1 L1697I LOXHD1 Q1203H LOXHD1 R685C LOXHD1_ENST00000398722 L1481I LOXHD1_ENST00000398722 Q925H LOXHD1_ENST00000398722 R407C LOXL2 G765W LOXL2 R690C LOXL3 T135M LOXL4 R521C LPA A868V LPA A912V LPA A977E LPA R1614W LPA R364T LPA T1349M LPA T1739M LPAR1 L215M LPAR4 D307Y LPAR4 L86F LPAR5 R49C LPAR6 S92F LPGAT1 L222F LPHN1 D273G LPHN1 E1421K LPHN1 R592W LPHN2 A1029T LPHN2 A158D LPHN2 F13L LPHN2 G272S LPHN2 P1328S LPHN2 R179C LPHN2 R196C LPHN2 T835S LPHN2_ENST00000370725 A158D LPHN2_ENST00000370725 R179C LPHN3 A665V LPHN3 F951L LPHN3 H806N LPHN3 K561N LPHN3 K626N LPHN3 P70H LPHN3 R1183Q LPHN3 W273R LPHN3_ENST00000512091 A665V LPHN3_ENST00000512091 H806N LPHN3_ENST00000512091 K626N LPHN3_ENST00000512091 R1183Q LPHN3_ENST00000514591 A665V LPHN3_ENST00000514591 F951L LPHN3_ENST00000514591 H806N LPHN3_ENST00000514591 K626N LPHN3_ENST00000514591 R1183Q LPIN1 S889L LPIN2 A808V LPIN2 K795N LPIN2 Q171R LPIN3 L827Q LPL E298Q LPL E38K LPO M592I LPPR2 T155M LPPR4 A119E LPPR4 F286L LPPR4 G511R LPPR4 R174L LPPR4 R419Q LPPR4 R431T LPP_ENST00000312675 K176R LRBA E2103K LRBA I2458V LRBA R1992W LRBA T2701A LRBA W2215R LRCH1 K244E LRCH1 R152Q LRCH3 D200Y LRCH3 D373G LRCH3 R350G LRFN1 G181R LRFN2 A140T LRFN2 G532S LRFN2 R424Q LRFN2 T788M LRFN3 S550L LRFN4 V340A LRFN5 D70N LRFN5 N339K LRFN5 R199Q LRFN5 R445C LRFN5 R681H LRFN5 S236G LRFN5 T498P LRFN5 T584M LRFN5 V63A LRGUK G426E LRGUK R545W LRGUK R552H LRIF1 G124R LRIG1 T283M LRIG1 V118I LRIG2 G773R LRIG3 D1051N LRIG3 E982K LRIG3 V811M LRIT1 V538I LRIT2 S3L LRMP R345G LRP1 E869K LRP1 P1058T LRP1 R1281C LRP1 R3760H LRP10 C374R LRP10 K272E LRP10 R305W LRP11 A299T LRP12 E235K LRP12 E445Q LRP12 R429H LRP1B A1555V LRP1B C2168F LRP1B C2530S LRP1B E145K LRP1B E2030G LRP1B E3458D LRP1B G1339S LRP1B G1764D LRP1B G304C LRP1B G418C LRP1B K1497T LRP1B K2623N LRP1B L4021H LRP1B P3432S LRP1B R1267C LRP1B R1987C LRP1B R2553Q LRP1B R2562S LRP1B R3069C LRP1B R3950M LRP1B R4020K LRP1B R855T LRP1B S3315P LRP1B S4254N LRP1B V3113I LRP1B W1749C LRP1B Y4399F LRP2 A1967V LRP2 A3412S LRP2 E3395G LRP2 Q751K LRP2 R2095Q LRP2 R3043C LRP2 R3343C LRP2 R3551H LRP2 R3646H LRP2 R4127H LRP2 R847H LRP2 S2042P LRP2 S2395P LRP2 S737L LRP2 S830L LRP2 V263A LRP2 V3050A LRP2 V3050I LRP5 A65V LRP5 A702T LRP5 E1293K LRP6 Q998R LRP6 R360C LRP6 R638Q LRP6 R675Q LRP6 S1613P LRP6 S1613Y LRP8 R444C LRPPRC D708G LRR1 R172C LRRC10 D248N LRRC14 E29K LRRC15 A109T LRRC15 I305T LRRC15 R296Q LRRC15 R98Q LRRC15 S554P LRRC15_ENST00000439944 I311T LRRC15_ENST00000439944 S560P LRRC16A R1156W LRRC16B H625R LRRC16B R1052H LRRC16B R787W LRRC17 R34W LRRC2 R335Q LRRC2 V229I LRRC23 E27G LRRC28 E184D LRRC31 A443S LRRC31 K23T LRRC31 N124S LRRC31 Q160K LRRC33 D564V LRRC33 G600V LRRC33 R566H LRRC33 T254M LRRC36 C72Y LRRC36 V745I LRRC37A3 R1306H LRRC37A3 V449I LRRC37A3 W1272S LRRC37B T833A LRRC39 F275L LRRC39 F275S LRRC4 D406N LRRC4 T579A LRRC40 L143P LRRC40 P305S LRRC41 L73F LRRC41 Q660E LRRC43 E178K LRRC46 R91H LRRC47 P567R LRRC47 R333W LRRC49 R573W LRRC4B A129T LRRC4B H111N LRRC4B R386H LRRC4B T561M LRRC4C P580L LRRC4C R156Q LRRC4C R402W LRRC52 L103H LRRC55 V307M LRRC6 D241G LRRC6 R11W LRRC66 M238I LRRC66 S705F LRRC7 A1122T LRRC7 A857T LRRC7 D436N LRRC7 D938Y LRRC7 E1045K LRRC7 R1389H LRRC7 R325W LRRC7 R5W LRRC7 S797L LRRC7 V1027F LRRC7 V1364E LRRC8A C643Y LRRC8A E775Q LRRC8C K233N LRRC8C P746Q LRRC8C R344H LRRC8D R671H LRRC8D T209M LRRC8E Y323C LRRCC1 A6V LRRCC1 R763S LRRCC1_ENST00000414626 R743S LRRFIP1 Q634K LRRFIP1_ENST00000392000 Q658K LRRFIP2 D390G LRRFIP2 R450Q LRRIQ1 H1234Y LRRIQ1 K1224T LRRIQ1_ENST00000393217 D1428N LRRIQ1_ENST00000393217 K1224T LRRIQ1_ENST00000393217 K1397E LRRIQ1_ENST00000393217 L1635F LRRIQ1_ENST00000393217 S1372Y LRRIQ3 H142Y LRRIQ3 L565V LRRIQ3 P357L LRRIQ3 R402Q LRRIQ3 R418Q LRRIQ3 S549G LRRK1 E1413G LRRK1 T148M LRRK1_ENST00000388948 E1401G LRRK2 C537Y LRRK2 E10K LRRK2 I1294V LRRK2 I2080V LRRK2 R1462H LRRK2 R1538H LRRK2 R1550Q LRRK2 R1550W LRRK2 R2453H LRRK2_ENST00000298910 D1756G LRRK2_ENST00000298910 I1294V LRRK2_ENST00000298910 L1776I LRRK2_ENST00000298910 R1462H LRRK2_ENST00000298910 R1538H LRRK2_ENST00000298910 R1550W LRRK2_ENST00000298910 R2446H LRRN1 R41H LRRN2 S106L LRRN3 E362K LRRN3 I241T LRRN3 L432I LRRN3 P199T LRRN3 S242C LRRTM1 P516H LRRTM1 R335H LRRTM1 T92M LRRTM1_ENST00000295057 R335H LRRTM1_ENST00000295057 T92M LRRTM3 D552H LRRTM3 E102K LRRTM3 S565R LRRTM3_ENST00000361320 D552H LRRTM3_ENST00000361320 E102K LRRTM4 R194Q LRRTM4 S243Y LRRTM4 T28M LRRTM4_ENST00000409093 R194Q LRRTM4_ENST00000409093 S243Y LRRTM4_ENST00000409093 T28M LRTM2 R106P LRTM2 S139L LRWD1 V582I LSAMP S226I LSG1 R517L LSM11 R303W LSM14A R272C LSM5 S10L LSR A310V LSS G86W LTA4H F107S LTBP1 A1575P LTBP1 G1240R LTBP1 P669S LTBP1 T1583M LTBP1 T213A LTF A481T LTF E85K LTF R49C LTK R617P LTK_ENST00000263800 R678P LTN1 D1104G LTN1 D1104N LTN1 T96A LUC7L3 R261W LUM E240K LUM F112L LUM P323T LUM R315H LUM Y326F LUZP2 M206I LUZP2 R241G LUZP2 R43C LXN A84T LY6G6F R169H LY6G6F R193S LY75 R1057H LY75 S1079F LY75 W1176F LY75 Y747D LY9 I69L LY9 V78I LY96 R90C LY9_ENST00000368039 I69L LY9_ENST00000368039 V160I LYN A119V LYPD5 M1L LYPD5_ENST00000377950 M44L LYST H1457P LYST I1838V LYST P594H LYST P837S LYST Q3162R LYST S1840L LYST Y3613C LZTR1 E571K LZTR1 G675R LZTR1 P281L LZTR1 R267H MAB21L1 E73K MACC1 S115P MACC1 S115T MACF1 E3368G MACF1 E4365G MACF1 E5006G MACF1 G4120R MACF1 L306Q MACF1 M3554V MACF1 R5459Q MACF1_ENST00000361689 E2866G MACF1_ENST00000361689 E3863G MACF1_ENST00000361689 E4504G MACF1_ENST00000361689 F722L MACF1_ENST00000361689 G3618R MACF1_ENST00000361689 M3052V MACF1_ENST00000361689 R4957Q MACF1_ENST00000361689 S1127I MACF1_ENST00000361689 S292L MACROD1 E292G MAD1L1 R576C MAD1L1 S671L MAD2L2 R93P MAD2L2_ENST00000376655 P89S MADCAM1 D234N MADD S1620F MAEL A303V MAEL R345C MAG A53T MAG L202M MAG T368M MAGEA1 I157V MAGEA1 K278E MAGEA1 S96P MAGEA10 E305K MAGEA10 H261Q MAGEA10 R7H MAGEA11_ENST00000355220 C12F MAGEA12 A114V MAGEA12 E37Q MAGEA12 E90Q MAGEA12 F130V MAGEA12 F143C MAGEA12 G296E MAGEA12 I140L MAGEA12 L109I MAGEA12 P217H MAGEA12 Q19R MAGEA12 Q248H MAGEA12 S294G MAGEA12 S81R MAGEA12 T247M MAGEA12 V107A MAGEA12 V167M MAGEA4 A39S MAGEA4 G153C MAGEA4 G153D MAGEA6 D187N MAGEA6 H174Q MAGEA6 V140I MAGEB1 A329V MAGEB1 L236F MAGEB10 A18S MAGEB10 E170K MAGEB10 P244T MAGEB18 E286G MAGEB18 L182F MAGEB2 A310V MAGEB2 G142C MAGEB2 R23L MAGEB2 R23Q MAGEB2 V132I MAGEB2_ENST00000378988 A310V MAGEB2_ENST00000378988 G142C MAGEB2_ENST00000378988 R23L MAGEB2_ENST00000378988 R23Q MAGEB2_ENST00000378988 V132I MAGEB3 R107H MAGEB4 E159K MAGEB4 R157C MAGEB4 S263R MAGEB6 P103L MAGEB6 T201M MAGEB6 Y229N MAGEC1 G993S MAGEC1 I1001T MAGEC1 K1046N MAGEC1 K844Q MAGEC1 L337P MAGEC1 L575M MAGEC1 P239S MAGEC1 Q32K MAGEC1 R1057L MAGEC1 S138Y MAGEC1 S857P MAGEC2 E247D MAGEC2 G6C MAGEC2 K276N MAGEC2 L141I MAGEC2 P131K MAGEC2 S110N MAGEC3 F524L MAGEC3 T219M MAGED2 E319K MAGEE1 L805R MAGEE1 R535Q MAGEE1 T664N MAGEE1 V380M MAGEE1 Y640F MAGEE1_ENST00000361470 L805R MAGEE1_ENST00000361470 R535Q MAGEE1_ENST00000361470 V380M MAGEE2 D73Y MAGEE2 T105M MAGEL2 N492K MAGEL2_ENST00000532292 R461S MAGI1 P789T MAGI1 R1225K MAGI1 R1227C MAGI1 R476Q MAGI1_ENST00000330909 R1224K MAGI1_ENST00000402939 K1288R MAGI1_ENST00000402939 P789T MAGI1_ENST00000402939 R1196K MAGI1_ENST00000402939 R1198C MAGI1_ENST00000402939 R476Q MAGI2 D644N MAGI2 G616S MAGI2 Q27H MAGI2 R215W MAGI2 R839C MAGI3 L1096V MAGI3 R766Q MAGI3 R808W MAGI3_ENST00000307546 R766Q MAGOH D43E MAGOH I137T MAGOHB E119G MAGOHB E119K MAGOHB R122Q MAG_ENST00000392213 A53T MAG_ENST00000392213 G603E MAK R272P MAK16 R82Q MALL S130L MALT1_ENST00000348428 E806G MALT1_ENST00000348428 V381F MAML2 M514V MAML2 M857I MAML2 S1081P MAML3 E855V MAML3_ENST00000509479 E855V MAMLD1 P271S MAMLD1_ENST00000370401 P344S MAMLD1_ENST00000432680 P319S MAN1A1 L638P MAN1B1 P694R MAN1C1 R200C MAN2A1 S591L MAN2A2 R444W MAN2B2 Y362C MANBA R734C MANBA W93R MAOA D15E MAOB E359K MAOB F274L MAP1A E1582D MAP1A R337W MAP1B D1370Y MAP1B E2046D MAP1B P1357T MAP1B R1948Q MAP1B S2281L MAP1B V2085M MAP2 A1655V MAP2 A937T MAP2 E754G MAP2 E837G MAP2 K530N MAP2 P705L MAP2 R1722H MAP2 R5W MAP2 T1224M MAP2K1 D67N MAP2K1 E203K MAP2K1 F129L MAP2K1 I111S MAP2K1 K57N MAP2K1 P124L MAP2K1 P124S MAP2K1 P264S MAP2K1 P387S MAP2K1 Q56P MAP2K1_ENST00000307102 E203K MAP2K1_ENST00000307102 F53L MAP2K1_ENST00000307102 K57N MAP2K1_ENST00000307102 P124S MAP2K1_ENST00000307102 P264S MAP2K1_ENST00000307102 Q56P MAP2K1_ENST00000307102 Y134C MAP2K2 E27K MAP2K2 Q60P MAP2K2_ENST00000262948 Q60P MAP2K4 A279T MAP2K4 G125R MAP2K4 G303V MAP2K4 P326L MAP2K4 R134W MAP2K4 R154W MAP2K4 R274G MAP2K4 R287H MAP2K4 S184L MAP2K4 S251I MAP2K4 V151L MAP2K5 I166M MAP2K5_ENST00000178640 I166M MAP2K7 A399V MAP2K7 D243N MAP2K7 R153L MAP2K7 R162C MAP2K7 T275M MAP2_ENST00000199940 A356V MAP2_ENST00000199940 R454H MAP3K11 H230Y MAP3K11 R147C MAP3K12 E409K MAP3K13 R459I MAP3K13 T892M MAP3K13 V317A MAP3K13_ENST00000424227 T892M MAP3K13_ENST00000424227 V317A MAP3K15 A778T MAP3K15 F533L MAP3K2 T464I MAP3K2_ENST00000409947 T464I MAP3K3 R597W MAP3K4 A1199V MAP3K4 D483N MAP3K4 D483Y MAP3K4 E967G MAP3K4 I797F MAP3K4 R275Q MAP3K4_ENST00000392142 A1199V MAP3K4_ENST00000392142 D483N MAP3K4_ENST00000392142 E967G MAP3K4_ENST00000392142 R275Q MAP3K6_ENST00000374040 N614K MAP3K6_ENST00000374040 R420C MAP3K6_ENST00000493901 N622K MAP3K7 R83C MAP3K7 Y558C MAP3K7_ENST00000369329 Y585C MAP3K8 P461L MAP3K9 R467C MAP4 P77L MAP4K1 R740W MAP4K1_ENST00000396857 R740W MAP4K3 E209D MAP4K3 E209G MAP4K3 T669A MAP4K3 V182A MAP4K4 N577K MAP4K4 S259L MAP6 T806M MAP7 E409K MAP7D1 Q795H MAP7D2 R446C MAP7D3 D1117G MAP7D3 R904C MAP9 D325G MAPK1 E322K MAPK1 L200F MAPK14 A51V MAPK14 N278S MAPK14_ENST00000229794 N278S MAPK4_ENST00000400384 R398C MAPK4_ENST00000400384 V100M MAPK6 G234C MAPK6 K489N MAPK6 L290P MAPK6 L290V MAPK6 R64C MAPK6 R64H MAPK7 A501D MAPK7 R326H MAPK8 R25Q MAPK8 T183M MAPK8IP2 A796V MAPK8IP3 G1296S MAPK8IP3 R494C MAPK8IP3 R550Q MAPK8_ENST00000374176 T183M MAPK9 G35R MAPK9 K56E MAPK9 K56R MAPK9 V91M MAPK9_ENST00000425491 K56E MAPK9_ENST00000425491 K56R MAPK9_ENST00000452135 K56E MAPK9_ENST00000452135 K56R MAPK9_ENST00000455781 K56E MAPK9_ENST00000455781 K56R MAPKAP1 D376G MAPKAP1_ENST00000265960 D412G MAPKAPK3_ENST00000446044 R148W MAPKAPK3_ENST00000446044 S337T MAPKBP1 A277D MAPKBP1 P775L MAPKBP1 R549Q MAPRE2 S72Y MARCH1 R81H MARCH10 S450Y MARCH1_ENST00000503008 R98H MARCH3 R98W MARCH4 Q172H MARCH5 D202Y MARCH5 R170C MARCH9 T48P MARCO E30K MARCO V520I MARK1 L250V MARK1 N355D MARK1 N355S MARK1 S403P MARK1 S447G MARK1 S447N MARK1 S699Y MARK1 V457A MARK1 V457L MARK1 Y233C MARK2 D160E MARK2 L328M MARK2 N57K MARK2 S164N MARK3 E120K MARK3 E344K MARK4 E521D MARK4 R410Q MARK4 R418H MARS C12W MARS G730D MARVELD2 E524G MAS1 R144H MAS1L P284L MAS1L V50I MASP1 K254N MASP1 T354K MASP1_ENST00000169293 R127C MASP1_ENST00000296280 K254N MASP1_ENST00000296280 R127C MASP1_ENST00000296280 T354K MAST1 A555V MAST1 S668L MAST1 V108I MAST1_ENST00000251472 A555V MAST1_ENST00000251472 S668L MAST1_ENST00000251472 V108I MAST2_ENST00000361297 K275R MAST2_ENST00000361297 R422H MAST2_ENST00000361297 Y625N MAST3 V600M MAST4 E2288D MAST4_ENST00000404260 L846S MAST4_ENST00000404260 S248P MAT2B H72R MATK A202V MATK D165N MATK_ENST00000395045 D166N MAX H28R MAX R60Q MAX_ENST00000246163 H28R MAX_ENST00000284165 H28R MAX_ENST00000284165 R60Q MAZ_ENST00000322945 A436V MB21D1 E481G MB21D2 Q311E MBD1 R214C MBD1 R375C MBD1_ENST00000269471 R214C MBD1_ENST00000339998 R214C MBD1_ENST00000339998 R375C MBD1_ENST00000457839 R214C MBD1_ENST00000457839 R400C MBD3L3 A130D MBD4 M473R MBD6 H281P MBD6 M1I MBNL1 S272L MBNL1 S62F MBNL1_ENST00000282488 R9W MBNL1_ENST00000282488 S62F MBNL1_ENST00000324196 R9W MBNL1_ENST00000324196 S62F MBNL3 R185C MBNL3_ENST00000370839 R185C MBOAT2 E147K MBOAT2 L323F MBOAT2 R43Q MBTD1 G249R MBTD1 Q392R MBTD1 T202I MBTPS1 G790R MBTPS1 R184W MBTPS1 T242M MC2R R137Q MC2R R279W MC3R N103S MC3R R344C MC3R R344H MC3R V330I MC5R T171M MC5R T239I MC5R V202G MCAM E607K MCAM R267H MCAM R311Q MCAM R311W MCART6 V51I MCC E142K MCC E429K MCC R38H MCC V88I MCCC1 A195T MCCC1 E592G MCCC1 K690E MCCC1 R66H MCCC2 A249V MCC_ENST00000408903 E332K MCC_ENST00000408903 E619K MCC_ENST00000408903 R228H MCC_ENST00000408903 V278I MCF2 M676I MCF2 R411Q MCF2 R724Q MCF2 V443A MCF2L2 E678K MCF2L2 L1039P MCF2L2 L254P MCF2L2 R864L MCF2L2 R926Q MCF2_ENST00000370573 R411Q MCF2_ENST00000370573 V443A MCF2_ENST00000519895 R471Q MCF2_ENST00000519895 R54W MCF2_ENST00000519895 R800Q MCF2_ENST00000519895 V503A MCHR1 R319W MCHR1 R388H MCHR2 E14K MCHR2 V253M MCL1 R187W MCM10_ENST00000361282 R254W MCM3AP E421K MCM3AP M1932I MCM4 D511N MCM5 L88F MCM6 V376I MCM7 G184R MCM7_ENST00000303887 G360R MCM8 L435F MCM8 L435P MCM8_ENST00000378896 L451P MCM9 S276L MCM9 S276P MCM9 V342A MCM9_ENST00000316316 S276P MCMBP A210V MCMBP F229V MCMBP M285I MCMBP N25S MCOLN2 L188P MCOLN2 M36V MCPH1_ENST00000344683 E550Q MCPH1_ENST00000344683 K178N MCRS1 R423W MCTP2 K755R MCTP2 R46H MCTP2 S51F MCTP2 W823C MCTS1 K8N MDC1 P1283T MDC1 P1964S MDC1_ENST00000376406 P1283T MDFI P89A MDFIC G221R MDGA1 E248K MDGA1 R518H MDGA1 T237M MDGA2 R156L MDGA2 R156Q MDGA2 R443Q MDGA2_ENST00000399232 R122W MDGA2_ENST00000399232 R454L MDGA2_ENST00000399232 R741Q MDGA2_ENST00000439988 R156L MDGA2_ENST00000439988 R443Q MDH1 K298R MDH1 V254F MDH1B R193C MDH1B R274C MDM1 D530N MDM1 R236I MDM1 R274C MDM1 S616L MDM1 T474M MDM2 L205Q MDM2 Y287H MDM4 S15R MDM4 S367L MDM4 T160S MDN1 E2201Q MDN1 F5405L MDN1 I619T MDN1 L2900V MDN1 Q1025H MDN1 Q5005R MDN1 R2722W MDN1 R3240C MDN1 R4238Q MDN1 Y1967C ME1 D80Y MECOM D928N MECOM R375K MECOM R750Q MECOM R781C MECOM S172L MED1 G955S MED1 P136L MED1 S673F MED1 T531I MED12 E33K MED12 G44A MED12 G44C MED12 G44D MED12 G44R MED12 G44S MED12 G44V MED12 L1224F MED12 L36R MED12 N1845T MED12 Q43P MED12 R521C MED12 R521H MED12 T1976I MED12 V1948A MED12L C1228R MED12L K758E MED12L K758R MED12L P332S MED12_ENST00000374080 E33K MED12_ENST00000374080 G44S MED12_ENST00000374080 L1224F MED12_ENST00000374080 L36R MED12_ENST00000374080 N1845T MED12_ENST00000374080 R521C MED12_ENST00000374080 R521H MED12_ENST00000374080 V1948A MED13 D1087G MED13 P1012T MED13 R2045W MED14 A1346V MED14 F1325L MED14 N1033S MED16 S562L MED17 E252G MED18 R40C MED20 I200V MED24 T712M MED27 P294L MED28 A169V MEF2A_ENST00000354410 H110Y MEF2A_ENST00000354410 P99S MEF2A_ENST00000354410 Y105C MEF2B D83V MEF2BNB-MEF2B D83V MEF2C E442K MEF2C V298I MEF2C_ENST00000424173 E432K MEF2C_ENST00000424173 I118N MEF2C_ENST00000424173 V288I MEFV R348H MEFV R377H MEFV R717H MEFV V704I MEFV_ENST00000541159 R166H MEGF11 G355R MEGF11_ENST00000409699 G430R MEGF6 R608H MEGF8 G807V MEGF8 T434M MEGF8_ENST00000334370 G740V MEGF8_ENST00000334370 T434M MEGF9 I399V MEI1 E25K MEIR5 S205G MEIS1 R340Q MEIS2 F283S MELK H514R MELK R504C MELK T316I MEMO1 M144T MEN1 A160D MEN1 A284P MEN1 E388G MEN1 F410L MEN1 G42S MEN1 H433P MEN1 L89R MEN1 P32R MEN1 R330P MEN1 S145R MEN1 S178P MEN1 S253L MEN1 S443P MEN1 T552A MEN1 T552S MEN1 V121D MEN1 V161F MEN1 W183R MEP1A A17V MEP1A S630L MEPCE R608C MEPE K42R MEPE N356K MEPE N356S MEPE R481Q MERTK I431V MERTK M790V MERTK S159F MERTK S159P MEST L157F MET A1209G MET C610Y MET D1246G MET E168D MET E221G MET G1260C MET H1112R MET H1112Y MET H1124D MET H1124R MET K1262R MET L1223W MET L1290P MET M1178I MET M1268I MET M1268T MET N375S MET Q978L MET R1166Q MET R266G MET T1010I MET Y1248C MET Y1253D METAP1 M329V METAP1 R289Q METTL13 R296W METTL14 R298P METTL14 S399L METTL15 D50Y METTL15_ENST00000407364 D50Y METTL16 R200Q METTL16_ENST00000263092 R200Q METTL17 N39S METTL17 R397C METTL21A R174Q METTL5 G61V METTL6 F56L METTL7A L157F METTL7A R235H METTL7B E169K METTL7B_ENST00000394252 E219K METTL9 S130P MFAP1 D350G MFAP3 L163P MFAP3L D119E MFAP3L R141H MFF L334F MFF R162C MFF R48S MFGE8 A280V MFGE8 L76M MFI2 G584S MFN1 D415G MFN1 E209G MFN1 F35Y MFN1 N574I MFN2 D540H MFN2 I88S MFN2 R564W MFN2_ENST00000376337 D238H MFRP V236I MFSD1 L433F MFSD11 A385T MFSD12 S305P MFSD2A G292C MFSD5 R173Q MFSD6 F188S MFSD9 G59V MFSD9 R317W MGA R1541C MGA R2484Q MGA T1969A MGA T2093A MGAM_ENST00000473011 A616V MGAM_ENST00000473011 L905I MGAM_ENST00000473011 R1097C MGAM_ENST00000473011 R834Q MGAM_ENST00000475668 L905I MGAM_ENST00000475668 R834Q MGAM_ENST00000549489 A616V MGAM_ENST00000549489 L905I MGAM_ENST00000549489 R1097C MGAT1 R187C MGAT2 D192N MGAT3 R293C MGAT3 V109M MGAT4B H427N MGAT4C F73L MGAT4C G370W MGAT4C R228Q MGAT4C R271C MGAT4C S122L MGAT4C T321M MGAT5 D105H MGAT5 Q563R MGAT5B S342N MGC33530 E160K MGC33530 G74V MGC33530 M164R MGC33530 R190Q MGC42105 F337L MGC42105 P333S MGC42105 R22H MGC99813 R268C MGEA5 E818G MGP R81C MIA Q131R MIA R3W MIA2 D437G MIA2 E559K MIA2 R208C MIA2 R252W MIA3 H1599Y MIA3 K605R MIA3 Q356H MIA3 S633P MIB1 E259K MIB2 V67M MICAL1 R332S MICAL2 A388G MICAL2 R160H MICALCL C114Y MICALCL R66W MICALL2 A180V MICALL2 Q527E MICB F168I MICB I121M MID1 H178Q MID1 R36C MIDN A276S MIOS P767R MIS12 G166C MIS18A E171K MITD1 K76N MITD1 M204I MITF N323D MITF R270L MITF_ENST00000352241 N424D MITF_ENST00000352241 R60C MITF_ENST00000352241 V100I MKI67 A1433V MKI67 L2956I MKI67 L2956P MKI67 P338S MKI67 T1775M MKI67 T2268A MKI67IP R153Q MKL1 E815G MKL1 R19W MKL2 D140N MKLN1 E226K MKLN1 H598D MKLN1 M392V MKLN1 P724T MKNK2 F149L MKNK2_ENST00000250896 F149L MKRN1 E446K MKRN2 R275Q MKRN3 A147V MKRN3 A201V MKRN3 P134L MKRN3 P448H MKRN3 R469Q MKRN3 W347C MKS1 R281Q MLANA R51Q MLC1 N344S MLF1_ENST00000392822 E229K MLF2 R138W MLH1 C233R MLH1 E172K MLH1 G54E MLH1 H543R MLH1 K618R MLH1 M587V MLH1 N158D MLH1 N158S MLH1 R226Q MLH1 R325Q MLH1 R522W MLH1 V384A MLH1 V384D MLH3 F491S MLH3 K256Q MLIP R335C MLIP S381L MLIP S404P MLIP S418P MLL E1464G MLL I960M MLL S680L MLL T2338S MLL2 E1456K MLL2 E4082G MLL2 E5164K MLL2 I5160T MLL2 K2849R MLL2 M3079T MLL2 P748S MLL2 Q1503R MLL2 Q3775R MLL2 R2519Q MLL2 R3968C MLL2 R5081L MLL2 R5119W MLL2 T973M MLL2_ENST00000301067 E1729K MLL2_ENST00000301067 E4352G MLL2_ENST00000301067 I5430T MLL2_ENST00000301067 K3119R MLL2_ENST00000301067 M3349T MLL2_ENST00000301067 P1021S MLL2_ENST00000301067 Q1773R MLL2_ENST00000301067 Q4045R MLL2_ENST00000301067 R5389W MLL2_ENST00000301067 T1246M MLL3 A251S MLL3 C347R MLL3 D400G MLL3 E1436D MLL3 G2479R MLL3 G315S MLL3 G4692S MLL3 G972E MLL3 H414Y MLL3 I4055V MLL3 K1396N MLL3 K4258N MLL3 N3686H MLL3 P309S MLL3 P3910S MLL3 R1292Q MLL3 R284Q MLL3 R380L MLL3 R4139Q MLL3 R4549C MLL3 S1308P MLL3 S990G MLL3 T1941A MLL3 T3698A MLL3 T3698M MLL3 V4338A MLL3 Y366H MLL3 Y4884C MLL3_ENST00000355193 A251S MLL3_ENST00000355193 C347R MLL3_ENST00000355193 D400G MLL3_ENST00000355193 E1436D MLL3_ENST00000355193 G2479R MLL3_ENST00000355193 G315S MLL3_ENST00000355193 G4749S MLL3_ENST00000355193 G972E MLL3_ENST00000355193 H414Y MLL3_ENST00000355193 I4112V MLL3_ENST00000355193 K1396N MLL3_ENST00000355193 K4315N MLL3_ENST00000355193 N3686H MLL3_ENST00000355193 P309S MLL3_ENST00000355193 P3967S MLL3_ENST00000355193 R1292Q MLL3_ENST00000355193 R284Q MLL3_ENST00000355193 R380L MLL3_ENST00000355193 R4196Q MLL3_ENST00000355193 R4606C MLL3_ENST00000355193 S1308P MLL3_ENST00000355193 S990G MLL3_ENST00000355193 T1941A MLL3_ENST00000355193 T3698A MLL3_ENST00000355193 T3698M MLL3_ENST00000355193 V4395A MLL3_ENST00000355193 Y366H MLL3_ENST00000355193 Y4941C MLL4 A1910V MLL4 P764L MLL4 R1599Q MLL4 R2334C MLL4 S1285N MLL4 T498N MLL5 D902N MLL5 K347N MLL5 V1421I MLLT1 S382G MLLT1 V114M MLLT10_ENST00000307729 V463E MLLT11_ENST00000368921 E86K MLLT3 A313T MLLT3 V36L MLLT4 I1344V MLLT6_ENST00000325718 A678T MLLT6_ENST00000325718 V635I MLL_ENST00000534358 S680L MLXIP E396G MMAA I275T MMAA I275V MMAA R326C MMD2 E100K MMD2_ENST00000404774 R165H MME D591N MME E585K MME R103H MME R293Q MME R395H MMEL1 R237W MMP1 A330S MMP1 V312I MMP10 E142G MMP11 P374L MMP11 R70L MMP13 D30G MMP13 R41C MMP13 V462A MMP14 P8S MMP15 G609R MMP15 R169H MMP15 T313P MMP16 F211L MMP16 G401R MMP16 P546T MMP16 R117Q MMP16 R301G MMP16 R369T MMP17 R125C MMP17_ENST00000360564 R453C MMP19 R345Q MMP2 P290L MMP2 R161Q MMP2 R310C MMP2 R98W MMP2 S644G MMP20 R39C MMP21 A509T MMP21 T297A MMP21 T297M MMP25 R105C MMP26 R63P MMP27 E25K MMP27 V373A MMP3 R316C MMP7 L6P MMP8 D425G MMP8 E314K MMP8 L291P MMP9 L35P MMP9 T466M MMPL1 R29C MMRN1 D768N MMRN1 E421K MMRN1 L9P MMRN1 P1049A MMRN1 T88R MMRN1 Y1109F MMS22L H218D MMS22L M945I MN1 R458H MN1 V1041M MNAT1 S56G MNDA A118T MNDA L175I MNDA L367V MNDA M404I MNDA S285P MNS1 I474T MNS1 R416H MOAP1 M15T MOBKL1A N54D MOBKL2A F16L MOBKL2B I129T MOBKL2B I129V MOBKL2C R190H MOBP C47W MOCOS R776H MOCS3 C365F MOCS3 T185I MOG A160V MOGAT2 A54V MOGS Q670E MOGS R535Q MON1B A499E MON2 D1183N MON2 I1302V MORC1 A233V MORC1 A697T MORC1 D113Y MORC1 E576K MORC1 P232L MORC1 R89W MORC1 S611P MORC2 R674W MORC2 R740H MORC3 R110H MORC4 R103H MORC4_ENST00000355610 R280H MOS A123T MOS S99Y MOSPD2 D464H MOV10 Q407R MOV10 S631L MOV10L1 A455S MOV10L1 A470E MOV10L1 R440Q MOV10L1 V570A MOV10L1_ENST00000540615 A435S MOV10L1_ENST00000540615 A450E MOV10L1_ENST00000540615 V550A MPDZ L804I MPDZ M1774I MPDZ M1774T MPDZ V1922A MPDZ_ENST00000541718 M1774T MPG E269K MPHOSPH10 I31S MPHOSPH10 K669E MPHOSPH10 K669R MPL A506T MPL A519T MPL R514M MPL S204P MPL S505N MPL V501A MPL W515A MPL W515K MPL W515L MPL W515R MPL W515S MPO R742G MPP1 G83R MPP3 R232H MPP5 N615D MPP5 T641M MPP6 T463M MPP6 T9M MPPED1 R91C MPPED1 T102M MPPED1 V95I MPPED2 G72C MPPED2 T266M MRC2 R1180H MRC2 R639W MRC2 R82Q MRE11A F237L MRE11A F237S MRE11A G285C MRE11A H302Y MRE11A_ENST00000323929 F237L MRE11A_ENST00000323929 F237S MRE11A_ENST00000323929 G285C MREG G15R MRGPRD Q3H MRGPRE T100M MRGPRX1 A46T MRGPRX1 V37I MRGPRX2 R141H MRGPRX3 D245N MRGPRX3 T34M MRGPRX4 R95H MRI1 Q18H MRI1_ENST00000319545 Q18H MRPL10 F126L MRPL13 L20P MRPL16 R192H MRPL18 R108H MRPL23 R18W MRPL30 M134I MRPL30 R33C MRPL35 P19S MRPL37 Y105C MRPL39 R44Q MRPL39_ENST00000352957 R44Q MRPL44 S251L MRPL47 L234I MRPS11 R118W MRPS15 E102D MRPS18B G132C MRPS22 L79P MRPS22 Y242C MRPS22 Y242N MRPS30 C33S MRPS30 R212C MRPS30_ENST00000507110 C33S MRPS30_ENST00000507110 R212C MRPS33 E21D MRPS5 R242C MRPS5 R300G MRPS5 R300M MRPS5 R300S MRPS6 E106G MRPS6 P110S MRPS9 R245Q MRRF N217S MRS2 V178I MRTO4 L102I MRTO4 R126Q MRVI1 P499H MS4A4A V80M MS4A4A_ENST00000337908 V99M MS4A5 L123R MS4A7 L135R MS4A8B S3L MSC N170S MSH2 C822F MSH2 E467G MSH2 G322D MSH2 G587C MSH2 G827W MSH2 L687P MSH2 P69T MSH2 R406L MSH2 R406Q MSH2 V821A MSH3 E1085D MSH4 E742G MSH4 K464N MSH4 L676F MSH4 N180K MSH6 D197G MSH6 D390N MSH6 D575G MSH6 E198G MSH6 E198K MSH6 E796K MSH6 G141S MSH6 G770V MSH6 K187E MSH6 R1076H MSH6 R1095H MSH6 R495Q MSH6 S1049F MSH6 T1008I MSH6 T1219I MSH6 V509A MSI1 A100T MSI1 C167Y MSI1 S229R MSL2 R466H MSL3 T392I MSLN R274C MSLNL A662T MSLNL R190S MSLNL T833A MSLN_ENST00000446427 R274C MSN E349G MSN K448N MSR1 P275A MSRB2 G165C MSRB2 R141C MSRB3 E169G MSRB3 E169K MSRB3 S154L MSRB3_ENST00000355192 E176G MSRB3_ENST00000355192 E176K MSRB3_ENST00000355192 R4G MSRB3_ENST00000355192 S161L MST1 G673S MST1 M364T MST1 P349L MST1 P416L MST1 R347W MST1 T546M MST1 W621C MST1 W621R MST1P9 G397R MST1P9 L309P MST1P9 W307R MST1R E1154K MST1R S1064P MST1R_ENST00000296474 E1154K MST1R_ENST00000296474 S1064P MST4 E382G MST4 R262S MSTO1 S315N MSX1 I218K MT-ATP6 I106T MT-ATP6_ENST00000361899 I106T MT-CO3 G46D MT-CO3 V142I MT-CO3_ENST00000362079 G46D MT-CO3_ENST00000362079 V142I MT-CYB G86D MT-CYB I138T MT-CYB_ENST00000361789 G86D MT-CYB_ENST00000361789 I138T MT-ND1 A128T MT-ND1 A226T MT-ND1 A74T MT-ND1 E204K MT-ND1 G210D MT-ND1 I273T MT-ND1_ENST00000361390 A128T MT-ND1_ENST00000361390 A226T MT-ND1_ENST00000361390 A74T MT-ND1_ENST00000361390 E204K MT-ND1_ENST00000361390 G210D MT-ND1_ENST00000361390 I273T MT-ND2 V151A MT-ND3 N83T MT-ND4 A318T MT-ND4_ENST00000361381 A318T MT-ND4_ENST00000361381 E123K MT-ND4_ENST00000361381 G156S MT-ND4_ENST00000361381 R245H MT-ND5 G146S MT-ND5 G344E MT-ND5 G361E MT-ND5 G376D MT-ND5 I126T MT-ND5 I359T MT-ND5 N447S MT-ND5 V132A MT-ND6 N117D MT-ND6 P139S MT-ND6 P25S MT-ND6 S84L MT-ND6_ENST00000361681 N117D MT-ND6_ENST00000361681 P139S MT-ND6_ENST00000361681 P25S MT-ND6_ENST00000361681 S84L MT1G E23K MT1G_ENST00000379811 E24K MT1H A53V MTA2 R103W MTAC2D1 N38S MTAC2D1 R143H MTAP Q122H MTBP E146G MTCP1_ENST00000369476 R76C MTDH T480A MTF1 G255E MTF1 R260Q MTF2 R20Q MTF2 R347Q MTHFD1 A893T MTHFD1 E220G MTHFD1L R339C MTHFD2L S27G MTHFR R363H MTIF2 D350G MTL5 G218S MTM1 P226S MTMR1 T301M MTMR11 R166Q MTMR11_ENST00000439741 R238Q MTMR14 Y205C MTMR3_ENST00000401950 V221I MTMR8 T147A MTMR8 W127R MTMR8_ENST00000453546 K384N MTMR8_ENST00000453546 R599L MTMR8_ENST00000453546 T147A MTNR1A F196L MTNR1B F102L MTO1 Q628H MTOR A1105T MTOR A1792V MTOR A41S MTOR C1483F MTOR E1799K MTOR I1973F MTOR L1433S MTOR L1460P MTOR M2011V MTOR R2505P MTOR R2505Q MTOR S2215Y MTOR T1977R MTOR V2417M MTPAP R503Q MTPAP_ENST00000358107 R633Q MTR K309N MTRR D439N MTRR M28I MTSS1 I189T MTSS1 I189V MTSS1 R640W MTSS1 R69C MTTP E766G MTTP Q872L MTUS1 Y243C MTUS2 R303Q MTUS2_ENST00000431530 A575V MTUS2_ENST00000431530 R1334Q MTUS2_ENST00000431530 R252C MTUS2_ENST00000431530 R81H MTUS2_ENST00000431530 S300L MTX3 M62I MUC1 R244H MUC12 I3082V MUC12 K3104I MUC12 P2652A MUC12 R1077C MUC12 R1077H MUC15 D276G MUC16 A2224T MUC16 A3670S MUC16 E2683G MUC16 E4050D MUC16 E4295K MUC16 L3262P MUC16 L4137V MUC16 M2821I MUC16 M8138V MUC16 M8192I MUC16 P1969T MUC16 Q6158R MUC16 R2782T MUC16 R8606H MUC16 S3694R MUC16 S3711Y MUC16 S6547C MUC16 S7000P MUC16 S7527Y MUC16 W5886S MUC16_ENST00000331986 A2087V MUC16_ENST00000331986 E7019D MUC16_ENST00000331986 I2368T MUC16_ENST00000331986 L6589P MUC16_ENST00000331986 M3771V MUC16_ENST00000331986 M3825I MUC16_ENST00000331986 P6320L MUC16_ENST00000331986 Q1791R MUC16_ENST00000331986 R4239H MUC16_ENST00000331986 S2180C MUC16_ENST00000331986 S2633P MUC16_ENST00000331986 S3160Y MUC16_ENST00000331986 V1230M MUC16_ENST00000331986 W1519S MUC16_ENST00000397910 A2224T MUC16_ENST00000397910 A3670S MUC16_ENST00000397910 E11386D MUC16_ENST00000397910 E2683G MUC16_ENST00000397910 E4295K MUC16_ENST00000397910 G13582S MUC16_ENST00000397910 L10956P MUC16_ENST00000397910 L3262P MUC16_ENST00000397910 M8138V MUC16_ENST00000397910 M8192I MUC16_ENST00000397910 P10687L MUC16_ENST00000397910 P1969T MUC16_ENST00000397910 Q6158R MUC16_ENST00000397910 R12305H MUC16_ENST00000397910 R12619C MUC16_ENST00000397910 R13242H MUC16_ENST00000397910 R8606H MUC16_ENST00000397910 S3694R MUC16_ENST00000397910 S3711Y MUC16_ENST00000397910 S7000P MUC16_ENST00000397910 S7527Y MUC16_ENST00000397910 W5886S MUC17 A1431T MUC17 A1616T MUC17 G3513S MUC17 H4206L MUC17 M3747I MUC17 P130H MUC17 P1849S MUC17 P3599S MUC17 R4415H MUC17 S1989C MUC17 S3984Y MUC17 S861G MUC17 S861T MUC17 T3350R MUC17 T3409M MUC17 T4027M MUC17 V2859A MUC1_ENST00000368392 R235H MUC1_ENST00000368395 P134A MUC1_ENST00000368395 R446H MUC2 G1578S MUC2 I1541S MUC2 P1407H MUC2 P1596T MUC2 P1642T MUC2 S1584T MUC2 T1490S MUC2 T1565S MUC2 T1569M MUC2 T1590I MUC2 T1590N MUC2 T1597A MUC2 T1664R MUC2 T1669S MUC2 T1695S MUC2 T1711M MUC2 T1717N MUC2 T1723N MUC2 T1725I MUC2 V1605G MUC20 G391S MUC20 P373L MUC20 P392L MUC20 T447M MUC20_ENST00000381954 P205L MUC21 A132V MUC21 A135V MUC21 A207V MUC21 E161G MUC21 G356E MUC21 S163G MUC21 S358G MUC21 S358N MUC2_ENST00000441003 E2542K MUC2_ENST00000441003 G1577S MUC2_ENST00000441003 G2157R MUC2_ENST00000441003 I1540S MUC2_ENST00000441003 L1769P MUC2_ENST00000441003 P1406H MUC2_ENST00000441003 P1629T MUC2_ENST00000441003 P1675T MUC2_ENST00000441003 Q1602H MUC2_ENST00000441003 S1583T MUC2_ENST00000441003 T1489S MUC2_ENST00000441003 T1564S MUC2_ENST00000441003 T1568M MUC2_ENST00000441003 T1589I MUC2_ENST00000441003 T1589N MUC2_ENST00000441003 T1630A MUC2_ENST00000441003 T1697R MUC2_ENST00000441003 T1702S MUC2_ENST00000441003 T1728S MUC2_ENST00000441003 T1744M MUC2_ENST00000441003 T1750N MUC2_ENST00000441003 T1756N MUC2_ENST00000441003 T1758I MUC2_ENST00000441003 V1638G MUC3B A755T MUC4 A860D MUC4_ENST00000405167 A4968D MUC4_ENST00000405167 P1680S MUC4_ENST00000463781 A1006T MUC4_ENST00000463781 A1065E MUC4_ENST00000463781 A1129V MUC4_ENST00000463781 A2169V MUC4_ENST00000463781 A2310P MUC4_ENST00000463781 A2390T MUC4_ENST00000463781 A2985T MUC4_ENST00000463781 A3902V MUC4_ENST00000463781 A3966T MUC4_ENST00000463781 A4206T MUC4_ENST00000463781 A5096D MUC4_ENST00000463781 D1125G MUC4_ENST00000463781 D1125N MUC4_ENST00000463781 D2309G MUC4_ENST00000463781 D2309N MUC4_ENST00000463781 D2405N MUC4_ENST00000463781 D2597E MUC4_ENST00000463781 D3317E MUC4_ENST00000463781 D3949H MUC4_ENST00000463781 D4213G MUC4_ENST00000463781 G1148A MUC4_ENST00000463781 G2467V MUC4_ENST00000463781 G2556S MUC4_ENST00000463781 H1133Q MUC4_ENST00000463781 H1661Q MUC4_ENST00000463781 H2381D MUC4_ENST00000463781 H3325Q MUC4_ENST00000463781 H3741Q MUC4_ENST00000463781 H3837Q MUC4_ENST00000463781 H3997Q MUC4_ENST00000463781 H4205D MUC4_ENST00000463781 H4205Q MUC4_ENST00000463781 I2837S MUC4_ENST00000463781 I4149S MUC4_ENST00000463781 L131P MUC4_ENST00000463781 L3314H MUC4_ENST00000463781 L4230F MUC4_ENST00000463781 L4230P MUC4_ENST00000463781 P1106H MUC4_ENST00000463781 P1168L MUC4_ENST00000463781 P1680S MUC4_ENST00000463781 P2080H MUC4_ENST00000463781 P2210H MUC4_ENST00000463781 P2352H MUC4_ENST00000463781 P2838T MUC4_ENST00000463781 P2976S MUC4_ENST00000463781 P3440S MUC4_ENST00000463781 P3458L MUC4_ENST00000463781 P3826L MUC4_ENST00000463781 P3952S MUC4_ENST00000463781 P4022T MUC4_ENST00000463781 P4050T MUC4_ENST00000463781 P4208S MUC4_ENST00000463781 P4226H MUC4_ENST00000463781 S1054T MUC4_ENST00000463781 S1653I MUC4_ENST00000463781 S1941I MUC4_ENST00000463781 S2858P MUC4_ENST00000463781 S3370T MUC4_ENST00000463781 S4199Y MUC4_ENST00000463781 S448C MUC4_ENST00000463781 S733P MUC4_ENST00000463781 T1022A MUC4_ENST00000463781 T1086S MUC4_ENST00000463781 T1142S MUC4_ENST00000463781 T1150A MUC4_ENST00000463781 T203M MUC4_ENST00000463781 T3467K MUC4_ENST00000463781 T3942P MUC4_ENST00000463781 T3950A MUC4_ENST00000463781 T4046A MUC4_ENST00000463781 T4118A MUC4_ENST00000463781 T4164S MUC4_ENST00000463781 T4198A MUC4_ENST00000463781 T4214A MUC4_ENST00000463781 V1001E MUC4_ENST00000463781 V2947D MUC4_ENST00000463781 V2963D MUC4_ENST00000463781 V3401A MUC4_ENST00000463781 V4195D MUC5AC E5637K MUC5AC G1228R MUC5AC G2591R MUC5AC G4140R MUC5AC G4531D MUC5AC I2224T MUC5AC P2042S MUC5AC P2055L MUC5AC P2638A MUC5AC S684G MUC5AC T2056S MUC5AC T4327M MUC5AC T4848M MUC5AC V3469G MUC5AC V4992I MUC5B E5682K MUC5B G1225R MUC5B G2588R MUC5B P2039S MUC5B P2052L MUC5B S681G MUC5B T2053S MUC5B V3490G MUC5B V5037I MUC6 V619M MUC6 Y1826D MUC6_ENST00000421673 V619M MUC6_ENST00000421673 Y1826D MUC7 A191V MUC7 P226L MUC7 S120Y MUC7 S173P MUC7 S242P MUC7 S62F MUDENG L135I MUM1L1 E426G MUM1L1 S200L MUM1L1 S412G MUM1L1 T532A MUM1L1_ENST00000337685 E426G MUM1L1_ENST00000337685 S200L MUM1L1_ENST00000337685 S412G MUM1L1_ENST00000337685 T532A MURC R272H MUS81 R483H MUS81_ENST00000308110 R483H MUSK N179S MUSK R836H MUT R369P MVK S150L MVK V132I MVP E412K MX1 R522C MX1 T651M MX2 G125R MX2 S106F MXD3_ENST00000423571 R225H MXRA5 D324Y MXRA5 E325G MXRA5 G2663R MXRA5 L1001P MXRA5 R2154W MXRA5 T2672M MXRA5 V1960I MXRA5 V758A MXRA5_ENST00000381114 D324Y MXRA5_ENST00000381114 E325G MXRA5_ENST00000381114 G2663R MXRA5_ENST00000381114 L1001P MXRA5_ENST00000381114 R2154W MXRA5_ENST00000381114 T2672M MXRA5_ENST00000381114 V758A MYB A224V MYB D334N MYBL1 K560N MYBL1 M307T MYBL2 R43S MYBPC1 A956T MYBPC1_ENST00000360610 A949T MYBPC2_ENST00000357701 A949T MYBPC2_ENST00000357701 R646H MYBPC2_ENST00000357701 V1058M MYBPC2_ENST00000357701 V53I MYBPC3 A1225S MYBPC3 R726C MYBPH R144H MYB_ENST00000341911 A224V MYB_ENST00000341911 D334N MYC E39D MYC F138S MYC P59L MYC T58P MYCBP2 C3976R MYCBP2 G2042R MYCBP2 R2242C MYCBP2 R2780Q MYCBP2_ENST00000357337 G2042R MYCBP2_ENST00000407578 F4014L MYCBP2_ENST00000407578 G2080R MYCBP2_ENST00000407578 R2280C MYCBP2_ENST00000407578 R2818Q MYCBPAP R166Q MYCL1_ENST00000397332 A366P MYCN P358L MYCN P44H MYCN P44L MYCN R302C MYCT1 R127H MYC_ENST00000377970 E54D MYC_ENST00000377970 F153S MYC_ENST00000377970 P74L MYC_ENST00000377970 T73P MYC_ENST00000377970 V7M MYD88 I220T MYD88 L265P MYD88 M232T MYD88 S219C MYD88 S222R MYD88 S243N MYD88 V217F MYEF2 D165G MYEF2 G92E MYEOV L307I MYF5 E136G MYF5 P149S MYF5 R129C MYF5 R95H MYF5 T112N MYF6 A90S MYF6 K156N MYH1 A1445T MYH1 D741N MYH1 D754G MYH1 F289L MYH1 G988C MYH1 H254Y MYH1 M93I MYH1 R1140H MYH1 R1341C MYH1 R1348W MYH1 R1638C MYH1 S1306L MYH1 S1306P MYH10 A914P MYH10 E1353Q MYH10 R1612W MYH11 K414R MYH11 R273H MYH11 R771Q MYH11 S339R MYH11 T280A MYH11_ENST00000396324 K421R MYH11_ENST00000396324 R280H MYH11_ENST00000396324 S346R MYH11_ENST00000396324 T287A MYH13 D311N MYH13 L1084F MYH13 R1901Q MYH13_ENST00000252172 D311N MYH13_ENST00000252172 R1901Q MYH14 Q794H MYH14 R1059C MYH14 R1131W MYH14_ENST00000262269 G1742V MYH14_ENST00000262269 Q835H MYH14_ENST00000262269 R1100C MYH14_ENST00000262269 R1172W MYH15 E85G MYH15 I1772T MYH15 K837R MYH15 R1832C MYH2 A34D MYH2 E1890V MYH2 E631V MYH2 E659D MYH2 H1934D MYH2 Q1634R MYH2 Q501K MYH2 Q698H MYH2 R1388H MYH2 R1506Q MYH2 R445H MYH3 K1061M MYH3 K568R MYH3 V587M MYH4 A1781T MYH4 E209D MYH4 L1866F MYH4 R1348W MYH4 R823C MYH6 A1819V MYH6 A446T MYH6 L1546P MYH6 T68M MYH6 T847M MYH7 A1394V MYH7 E1426K MYH7 E875D MYH7 R143W MYH7 R1608C MYH7 R1689C MYH7 R703H MYH7 S4L MYH7B I523M MYH7B I523T MYH7B R770W MYH7B S39N MYH8 E348D MYH8 H1006N MYH8 M880I MYH8 P155H MYH8 R1048Q MYH8 R1056Q MYH8 R26P MYH8 T127I MYH9 E530K MYH9 E925V MYH9 H686Y MYH9 R1730C MYH9 R1912H MYH9 R393H MYH9 S233F MYL10 R32L MYL2 G162R MYL6 R94W MYL6_ENST00000547649 R94W MYL7 F90L MYLIP N343S MYLK A1099T MYLK A350T MYLK E921K MYLK S287I MYLK V1075A MYLK2 S72N MYLK4 A78S MYLK4 E30G MYLK4 N276S MYLK4 P85L MYO10 A1141V MYO10 G1223R MYO15A A2884V MYO15A F2569S MYO15A R2588W MYO16 I1181T MYO16 K987N MYO16 Q696E MYO16 R34H MYO16 T128M MYO18A N941T MYO18A_ENST00000527372 N941T MYO18B A2317T MYO18B A869T MYO18B E584K MYO18B K2401R MYO18B L576V MYO18B R2231Q MYO1A E388K MYO1A T676A MYO1C Q791R MYO1D E246K MYO1D R588C MYO1D R622C MYO1E G333R MYO1E R700Q MYO1F K15R MYO1H A21T MYO3A D1347G MYO3A H1400Y MYO3A K90N MYO3A L394I MYO3A N525K MYO3A N525S MYO3A P1287S MYO3A R1013C MYO3A R331Q MYO3A R913C MYO3A R958H MYO3A S956N MYO3B C431R MYO3B C431S MYO3B D63G MYO3B E345G MYO3B E707K MYO3B R405C MYO3B S867P MYO3B T866M MYO3B_ENST00000408978 C431R MYO3B_ENST00000408978 D63G MYO3B_ENST00000408978 E345G MYO3B_ENST00000408978 E707K MYO3B_ENST00000408978 S867P MYO5A P1137L MYO5A R984W MYO5B A405V MYO5B V1703A MYO5C S170L MYO5C W1616C MYO6 D1180N MYO6 Q1167L MYO6 R980C MYO7A A1286T MYO7B D2052N MYO7B Q2349R MYO7B_ENST00000428314 D1808N MYO7B_ENST00000428314 Q2105R MYO9A E2517D MYO9A R167Q MYO9A R1921W MYO9A R2179Q MYO9A R2285C MYO9B E382D MYO9B G1455S MYO9B R874C MYO9B_ENST00000319396 E382D MYO9B_ENST00000319396 G1455S MYO9B_ENST00000319396 R874C MYOCD A468T MYOCD P912R MYOCD R386W MYOCD_ENST00000425538 R386W MYOG E31K MYOG G63R MYOM1 D1552N MYOM1 R212K MYOM1 R947C MYOM1 S1026R MYOM2 A314T MYOM2 R123H MYOM2 R1314H MYOM2 R1343H MYOM2 S693T MYOM3 V165I MYOT E5K MYOZ2 E251K MYOZ3 E5D MYPN S1038G MYSM1 T522M MYST1 E169D MYST1 R140H MYST1 R98W MYST2 R127Q MYST3 A1890T MYST3 E673D MYST3 G1974R MYST3 N456S MYST3 V585A MYST4 A1317T MYST4 D875N MYST4 E1373G MYST4 E705G MYST4 E705K MYST4 G1530E MYST4 R1254H MYT1 A386T MYT1 E226K MYT1 E665K MYT1L R631H MYT1L T442M N4BP1 I313V N4BP1_ENST00000262384 I266V N4BP2 E1564G N4BP2 K1074E N4BP2 N1091D N4BP2 P283A N4BP2L2 N479D N4BP2L2_ENST00000399396 N50D N4BP3 R163Q N6AMT1 A82P N6AMT2 F188C NAA10 D208G NAA11 G168R NAA15 T469A NAA16 K416N NAA25 E591Q NAA25 L607F NAA25 R728C NAA25 S789R NAA25 S807Y NAALAD2 A664T NAALADL1 E231K NAALADL1 V690I NAALADL2 E551D NAALADL2 G60D NAALADL2 V481I NAB1 L72F NACA2 T174R NACA3P R97W NACAD A1480T NACA_ENST00000550952 V433F NADK I90F NAE1 D405G NAG6 D1034N NALCN C207R NALCN D468E NALCN H464R NALCN K498N NALCN L1576P NALCN M1476I NALCN R1193H NALCN R1495W NALCN R1545L NALCN R1545W NALCN R372C NALCN R694C NALCN R989W NALCN R9K NALCN T1281M NALCN V853A NALP6 P244A NAMPT E263K NAMPT L176S NAMPTL S28C NANS S359F NAP1L1 K276R NAP1L2 G59V NAP1L4 G249R NAP1L4 G300V NAPA E43K NAPEPLD R166C NARFL R42H NARS2 R146K NARS2 Y412C NASP G409V NASP P374T NAT1 D142G NAT1_ENST00000545197 D204G NAT2 A54T NAT6 P267S NAV1 R1509H NAV2 A820T NAV2 T1810P NAV3 E552D NAV3 G1294S NAV3 K1839N NAV3 K471N NAV3 L2103I NAV3 P318S NAV3 P400Q NAV3 R770Q NBAS H1784Q NBAS I2150V NBAS L1262F NBAS Q847H NBAS V1220I NBEA H645R NBEA K250R NBEA M173V NBEA N363D NBEA R1325W NBEA R2412Q NBEA V2417I NBEAL1 I1060V NBEAL1_ENST00000449802 A152T NBEAL1_ENST00000449802 I2350V NBEAL2 A1364V NBEAL2 R1088H NBEAL2 R1961H NBEAL2 R72G NBEAL2_ENST00000450053 A1987V NBEAL2_ENST00000450053 R1711H NBEAL2_ENST00000450053 R2584H NBEAL2_ENST00000450053 R511G NBPF10 A179D NBPF10 D1168E NBPF10 D1168G NBPF10 D3466N NBPF10 E3455K NBPF10 G3070E NBPF10 I1165F NBPF10 L3037M NBPF10 L44V NBPF10 N1369D NBPF10 R296H NBPF10 S488P NBPF10 T23K NBPF10 V99F NBPF10 Y124N NBPF10_ENST00000369338 C373Y NBPF10_ENST00000369338 I389V NBPF10_ENST00000369338 R25H NBPF10_ENST00000369338 R394C NBPF10_ENST00000369338 S217P NBPF12_ENST00000442909 D137E NBPF12_ENST00000446760 D137E NBPF12_ENST00000446760 D179A NBPF14 E475Q NBPF14 K476Q NBPF14 L909P NBPF14 N333D NBPF14 S844I NBPF14_ENST00000310701 E481D NBPF16 T446I NBPF20 V3G NBPF20 V44L NBPF20 V99F NBPF3 D444E NBPF3 E413G NBPF3 V534M NBPF7 D273G NBPF9_ENST00000338347 G532S NBPF9_ENST00000338347 G549R NBPF9_ENST00000338347 N184D NBPF9_ENST00000338347 Q577E NBPF9_ENST00000338347 T252A NBPF9_ENST00000338347 Y584D NCAM1 Q487R NCAM1 R440W NCAM1_ENST00000316851 Q487R NCAM1_ENST00000316851 R440W NCAM1_ENST00000401611 Q496R NCAM2 P302S NCAM2 Q70L NCAM2 T694M NCAM2 T736P NCAM2 V69M NCAN H1287Q NCAN K41M NCAN P92S NCAN R231H NCAN T871M NCAN_ENST00000539499 K41M NCAN_ENST00000539499 P92S NCAPD2 E762K NCAPD2 R1173C NCAPD2 R698C NCAPD2 R698S NCAPD2 R71Q NCAPD3 E48G NCAPD3 E68K NCAPG M265T NCAPG M265V NCBP2 S130Y NCDN R394C NCDN R593Q NCDN V299M NCF1 E218K NCF2 P231R NCF2 W167C NCF4 R105Q NCF4 T337M NCK2 I6F NCK2 R279H NCK2_ENST00000233154 R279H NCKAP1 R349H NCKAP1L F375L NCKAP1L H544Y NCKAP1L K653T NCKAP1L L681I NCKAP1L R152Q NCKAP1L R223C NCKAP1L R491H NCKAP5 G1836R NCKAP5 K1614N NCKAP5 K183R NCKAP5 S172R NCKAP5 V937I NCKAP5_ENST00000405974 G356R NCKAP5_ENST00000405974 K22R NCKAP5_ENST00000405974 S11R NCL F617L NCOA1 R1073W NCOA2 G598V NCOA2 Q1032E NCOA2 V567F NCOA2 Y160C NCOA3 M891I NCOA3 P499H NCOA3 P499L NCOA4_ENST00000452682 N409K NCOA4_ENST00000452682 R331Q NCOA4_ENST00000452682 R40Q NCOA4_ENST00000452682 R578Q NCOA5 R335H NCOA6 P1060S NCOA6 R1323W NCOA6 S1709Y NCOA6 S1803P NCOA7 K584E NCOA7 P712S NCOA7 R793G NCOA7 T705A NCOA7_ENST00000438495 A87G NCOR1 G150R NCOR1 M967I NCOR1 M967V NCOR1 R1755C NCOR1 R66Q NCOR2 P2021L NCOR2 R1736L NCOR2 R224H NCOR2_ENST00000405201 A1886T NCOR2_ENST00000405201 R1729L NCOR2_ENST00000405201 R224H NCOR2_ENST00000405201 S2014L NCR1 A228S NCR1 G167R NCR1 L8M NCR2 V202I NCR3 D102G NCRNA00335 P75L NCSTN S683F NDC80 E533G NDN P88T NDNF R266H NDOR1 R30G NDOR1_ENST00000371521 R30G NDRG1 Q6R NDRG2 R62H NDST3 H264R NDST4 G317R NDUFA1 R53C NDUFA2 D50N NDUFA3 N62D NDUFA9 L214R NDUFAB1 G46R NDUFAF1 K224N NDUFAF1 K224R NDUFB10 Y58H NDUFB2 R43W NDUFS1 I623R NDUFS4 R29S NDUFS4 V172L NDUFV1 R224L NDUFV2 K129R NEB D5434N NEB E1214K NEB G6569R NEB K2504E NEB K866N NEB L1591I NEB R2079H NEB R2691H NEB R2799H NEB R3538Q NEB R3538W NEB R4588Q NEB R5265C NEB R5672L NEB R5672Q NEB R5672W NEB S3483N NEB T108A NEB T108I NEB V3397G NEB W3153L NEB W812L NEBL K60N NEB_ENST00000397345 G8425R NEB_ENST00000397345 K866N NEB_ENST00000397345 R2079H NEB_ENST00000397345 R2799H NEB_ENST00000397345 R3781W NEB_ENST00000397345 R6966C NEB_ENST00000397345 R7373L NEB_ENST00000397345 R7373W NEB_ENST00000397345 T108A NEB_ENST00000397345 V3640G NEB_ENST00000397345 W3396L NEB_ENST00000397345 W812L NEB_ENST00000427231 G8425R NEB_ENST00000427231 K866N NEB_ENST00000427231 R3781W NEB_ENST00000427231 R7373L NEB_ENST00000427231 R7373W NEB_ENST00000427231 T108A NEB_ENST00000427231 W3396L NECAB2 R307H NECAB2 R385Q NEDD4 D1050N NEDD4L E18Q NEDD4L G834S NEDD4L R875H NEDD4L_ENST00000400345 E18Q NEDD4_ENST00000435532 D703N NEDD8 R25Q NEDD9 A316T NEDD9 A728T NEDD9 A798T NEDD9_ENST00000379446 A316T NEDD9_ENST00000379446 A728T NEDD9_ENST00000379446 A798T NEDD9_ENST00000504387 A728T NEFH T732S NEFL R172H NEFM A213V NEGR1 K180Q NEIL1 R363Q NEIL3 K567R NEIL3 R38C NEK1 E25K NEK1 N181D NEK1 R608C NEK10 E379K NEK10 F50L NEK10 L308I NEK10_ENST00000341435 F50L NEK10_ENST00000341435 L308I NEK10_ENST00000429845 F50L NEK10_ENST00000429845 L308I NEK1_ENST00000507142 N181D NEK5 E517K NEK5_ENST00000355568 E460K NEK6 I99V NEK6_ENST00000373600 I140V NEK8 L621F NEK9 P870S NEK9 R786Q NELL1 G512R NELL1 I203T NELL1 K340N NELL2 D602N NELL2_ENST00000437801 D652N NES E676G NES G1475D NES L1507F NETO1 F298V NETO1 G181R NETO1 N474I NETO1 P156L NETO1 P158T NETO1 Q461L NETO1_ENST00000397929 P155L NEU2 R204C NEURL4 R1016C NEURL4 R366C NEURL4 R366H NEURL4_ENST00000315614 R1014C NEURL4_ENST00000315614 R366C NEURL4_ENST00000315614 R366H NEUROD1 K39R NEUROD1 R113H NEUROD4 R97Q NEXN D3N NEXN E130G NEXN R42G NEXN R42K NEXN R42M NEXN S243Y NF1 A1858T NF1 A2336T NF1 D176E NF1 D1849G NF1 E1919G NF1 E1919K NF1 E91G NF1 F2156L NF1 K1444E NF1 K1444N NF1 K1444R NF1 L1187P NF1 L194P NF1 L550P NF1 N1984S NF1 P1951L NF1 P2472H NF1 Q1447H NF1 Q1447K NF1 Q1520H NF1 Q519P NF1 Q519R NF1 R1276Q NF1 R1306L NF1 R1830C NF1 R2594P NF1 R914L NF1 R997M NF1 S2549P NF1 S2597P NF1 V1182A NF1 W1258R NF1 W1662L NF1 W2317L NF1 Y2285C NF1_ENST00000358273 A2336T NF1_ENST00000358273 D1849G NF1_ENST00000358273 E1919G NF1_ENST00000358273 E91G NF1_ENST00000358273 G2716E NF1_ENST00000358273 K1444N NF1_ENST00000358273 K1444R NF1_ENST00000358273 L1187P NF1_ENST00000358273 N1984S NF1_ENST00000358273 N2679D NF1_ENST00000358273 P1951L NF1_ENST00000358273 P2472H NF1_ENST00000358273 Q1447H NF1_ENST00000358273 Q1520H NF1_ENST00000358273 Q519R NF1_ENST00000358273 R1306L NF1_ENST00000358273 R1830C NF1_ENST00000358273 R997M NF1_ENST00000358273 S2549P NF1_ENST00000358273 S2597P NF1_ENST00000358273 T2017I NF1_ENST00000358273 V1182A NF1_ENST00000358273 W1258R NF1_ENST00000358273 W1662L NF1_ENST00000358273 W2317L NF1_ENST00000358273 Y2285C NF2 A211D NF2 E270D NF2 E463K NF2 K289R NF2 K387E NF2 K79E NF2 L46R NF2 Q111R NF2 Q298R NF2 Q324R NF2 R262Q NF2 S156G NF2 V146I NF2 V219A NF2 V219M NF2 W74R NF2 Y153C NF2 Y207C NF2_ENST00000403999 K289R NF2_ENST00000403999 Q111R NF2_ENST00000403999 Q298R NF2_ENST00000403999 Q324R NF2_ENST00000403999 R262Q NF2_ENST00000403999 S156G NF2_ENST00000403999 V219A NF2_ENST00000403999 W74R NF2_ENST00000403999 Y153C NF2_ENST00000403999 Y207C NFASC V659I NFASC V685I NFASC_ENST00000339876 V663I NFAT5 E120A NFATC1 V318I NFATC2 A59T NFATC2 I518T NFATC2 K506Q NFATC2 R478Q NFATC3 K474R NFATC3_ENST00000346183 K474R NFATC4 R580H NFE2L2 A124V NFE2L2 D29G NFE2L2 D29H NFE2L2 D29N NFE2L2 D29Y NFE2L2 D77A NFE2L2 D77G NFE2L2 D77V NFE2L2 E79K NFE2L2 E79Q NFE2L2 E82D NFE2L2 E82G NFE2L2 E82Q NFE2L2 G31A NFE2L2 G31R NFE2L2 G81D NFE2L2 G81S NFE2L2 G81V NFE2L2 L30F NFE2L2 L30R NFE2L2 Q75H NFE2L2 R34G NFE2L2 R34P NFE2L2 R34Q NFE2L2 T80K NFE2L2 T80P NFE2L2 V32G NFE2L2 W24C NFE2L3 C595Y NFE2L3 R537H NFE2L3 S297Y NFE2L3 S435C NFKB1 R335Q NFKB2 R261W NFKBIB Q69R NFKBIZ R572G NFRKB L303W NFRKB R37C NFRKB V602I NFS1 R434Q NFXL1 R815H NFYC I173V NFYC Q165H NGEF K445R NGEF R259Q NGEF R259W NGEF V30A NGEF_ENST00000264051 K445R NGEF_ENST00000264051 R259Q NGEF_ENST00000264051 R259W NGEF_ENST00000264051 V30A NGF R49C NGFRAP1 E9K NHEJ1 P270S NHLH1 M8T NHLRC2 M698V NHS L215P NHS R247H NHS R373Q NHS R714H NHS S1449L NHS S1553P NHS_ENST00000398097 R1443Q NHS_ENST00000398097 R558H NHS_ENST00000398097 R70H NHS_ENST00000398097 S1397P NID1 F1036L NID1 P87H NID1 V937M NID2 A289T NID2 R699C NID2 R839W NID2 V547M NID2 V984M NIF3L1 C186Y NIF3L1_ENST00000409020 C213Y NIN D389H NIN E1239Q NINL E1046G NINL R1366C NINL V228I NIN_ENST00000245441 E1239Q NIN_ENST00000382041 E1239Q NIP7 P158S NIPA1 V301I NIPAL4 P368L NIPBL K1690E NIPBL M264V NIPBL N141K NIPBL Q439H NIPBL R1894C NIPBL R45Q NIPBL T1918A NIPBL Y1750F NIPBL_ENST00000448238 K1690E NIPBL_ENST00000448238 M264V NIPBL_ENST00000448238 N141K NIPBL_ENST00000448238 Q439H NIPBL_ENST00000448238 R1894C NIPBL_ENST00000448238 R45Q NIPBL_ENST00000448238 Y1750F NIPSNAP3A R224W NIPSNAP3B R224Q NISCH R421Q NIT1_ENST00000368007 T2A NKAIN4 R110C NKAPL K190R NKAPL R79H NKD2 V175I NKTR R430L NKX3-1 A155T NKX3-1 R176C NKX3-1 Y177C NKX6-1 G351S NKX6-1 T201M NLE1 Q319K NLE1 V345G NLGN1 A86T NLGN1 R93L NLGN1 V129A NLGN1 V129I NLGN3 R450H NLGN3 R778C NLGN4X A130T NLGN4X A488V NLGN4X D345N NLGN4X D740N NLGN4X G214C NLGN4X G214S NLGN4X L773R NLGN4X S509I NLGN4X S520R NLGN4Y Q105K NLK A331T NLK M210I NLK P223L NLK P223S NLK_ENST00000407008 A343T NLK_ENST00000407008 M222I NLK_ENST00000407008 P235L NLK_ENST00000407008 P235S NLN A481V NLRC3 G454R NLRC4_ENST00000404025 D593N NLRC4_ENST00000404025 E409K NLRC4_ENST00000404025 H56N NLRC4_ENST00000404025 N539S NLRC4_ENST00000404025 R181Q NLRC4_ENST00000404025 R288W NLRC5 G1005S NLRP1 K655R NLRP1 P616R NLRP1 R890G NLRP1 R890K NLRP1 T729M NLRP10 G355D NLRP10 R492C NLRP10 S287F NLRP11 E190K NLRP11 L979M NLRP11 R534C NLRP11 R665C NLRP11 T824A NLRP12 L418V NLRP12 R722Q NLRP12 S702G NLRP12 V583F NLRP13 E506D NLRP13 E669K NLRP13 F299L NLRP13 M1027I NLRP13 M1027T NLRP13 N752K NLRP14 S779C NLRP1_ENST00000262467 K655R NLRP1_ENST00000262467 R890G NLRP1_ENST00000572272 K655R NLRP1_ENST00000572272 R890G NLRP2_ENST00000543010 A242V NLRP3 L919P NLRP3 R157H NLRP3 R172H NLRP3 R327G NLRP4 V229I NLRP4_ENST00000301295 E242K NLRP4_ENST00000301295 G638R NLRP4_ENST00000301295 P284L NLRP4_ENST00000301295 R420W NLRP4_ENST00000301295 R708H NLRP5 R392H NLRP5_ENST00000390649 A1052T NLRP5_ENST00000390649 P35Q NLRP5_ENST00000390649 R533H NLRP7 R909C NLRP7 R958I NLRP7 V500I NLRP7_ENST00000328092 R937C NLRP7_ENST00000328092 R986I NLRP8 E375V NLRP8_ENST00000291971 E615G NLRP8_ENST00000291971 N962S NLRP8_ENST00000291971 P355L NLRP8_ENST00000291971 S845L NLRP8_ENST00000291971 S967F NLRP9 D137G NLRP9 R288W NLRP9 R899H NLRP9 S305L NLRP9 T339M NLRX1 R707H NLRX1_ENST00000409265 R707H NMBR P148H NMBR R361H NMBR V56M NMD3 E210K NMD3 H192Y NME2P1 D133H NME7 G207S NMNAT2 G15C NMNAT2 G282S NMNAT3 E211D NMNAT3_ENST00000413939 E159D NMT1 L46F NMT2 I348T NMT2 R148C NMT2 R318I NMUR2 R108H NMUR2 T205M NNT A735T NNT K29Q NOBOX R302C NOBOX_ENST00000467773 R302C NOC3L R614H NOD1 S376G NOL11 L509F NOL4 G563E NOL4 V91I NOL8 E134K NOL8_ENST00000545558 D943G NOL8_ENST00000545558 E134K NOLC1 T418M NOM1 A170D NOMO1 M580V NOMO2 V738M NONO F213L NOP14 R329H NOP16 E178G NOP16_ENST00000341213 S153G NOP2 G366E NOP56 I262R NOS1 C1216S NOS1 E795Q NOS1 F745L NOS1 N296S NOS1 R1021C NOS1 R1203H NOS1 R1262Q NOS1 R415Q NOS1 R48C NOS1 S379F NOS1 S771L NOS1 V572M NOS1 Y796H NOS3 D386Y NOS3 H214L NOS3 R474C NOS3 R474H NOSTRIN F406L NOSTRIN_ENST00000444448 F463L NOTCH1 A1610T NOTCH1 A1635T NOTCH1 A1639T NOTCH1 A1650T NOTCH1 A1696D NOTCH1 A1701P NOTCH1 A1702P NOTCH1 A1936T NOTCH1 A2280V NOTCH1 C1692R NOTCH1 D1609V NOTCH1 D259N NOTCH1 F1540L NOTCH1 F1592S NOTCH1 F1593C NOTCH1 F1593S NOTCH1 G1215D NOTCH1 G1659D NOTCH1 G2153R NOTCH1 I1616N NOTCH1 I1617N NOTCH1 I1676T NOTCH1 I1680N NOTCH1 I1681M NOTCH1 I1681S NOTCH1 I1719T NOTCH1 I2550V NOTCH1 L1574P NOTCH1 L1575P NOTCH1 L1585P NOTCH1 L1585R NOTCH1 L1586P NOTCH1 L1586Q NOTCH1 L1593P NOTCH1 L1594P NOTCH1 L1596H NOTCH1 L1600P NOTCH1 L1600Q NOTCH1 L1601P NOTCH1 L1601Q NOTCH1 L1678P NOTCH1 L1678Q NOTCH1 L1679P NOTCH1 L1679Q NOTCH1 L1709P NOTCH1 P2271S NOTCH1 P2412T NOTCH1 P2512L NOTCH1 P2513L NOTCH1 R1587P NOTCH1 R1598P NOTCH1 R1599P NOTCH1 R2327W NOTCH1 R353C NOTCH1 R365C NOTCH1 S2407N NOTCH1 T2484M NOTCH1 T701P NOTCH1 V1577E NOTCH1 V1578A NOTCH1 V1579E NOTCH1 V1671I NOTCH1 V1672I NOTCH1 V1676D NOTCH1 V1722M NOTCH1 V2286I NOTCH1_ENST00000277541 A1936T NOTCH1_ENST00000277541 L1593P NOTCH1_ENST00000277541 L1600P NOTCH1_ENST00000277541 R2327W NOTCH1_ENST00000277541 R365C NOTCH1_ENST00000277541 T701P NOTCH2 A3V NOTCH2 D2125N NOTCH2 E990D NOTCH2 G601C NOTCH2 H1638Y NOTCH2 V2075M NOTCH2 Y790C NOTCH2NL S165F NOTCH2NL T39A NOTCH2NL_ENST00000362074 S165F NOTCH2NL_ENST00000362074 T39A NOTCH3 A1701V NOTCH3 A1927T NOTCH3 E1203K NOTCH3 E1937K NOTCH3 G1188D NOTCH3 G831E NOTCH3 P2074L NOTCH3 Q2318L NOTCH3_ENST00000263388 E1203K NOTCH3_ENST00000263388 E1937K NOTCH4 E1977Q NOTCH4 F611L NOTCH4 R1333C NOTCH4 T684M NOV K288R NOV P175S NOVA1 A256D NOVA1 T141I NOX1_ENST00000372966 A424S NOX3 F24L NOX4 G375E NOX5 T14N NOXA1 R241I NPAS2 Q136R NPAS3 I54F NPAS3 R34W NPAS3 T618M NPAS4 A319V NPAS4 E628G NPAS4 R595W NPAS4 S747F NPAT I672V NPBWR1 A49T NPBWR1 R325C NPBWR1 V272M NPBWR2 R161W NPBWR2 T78M NPBWR2 W203L NPC1 E451K NPC1L1 R693L NPC1L1 V229M NPC1L1 Y1011N NPEPL1 R474G NPFFR2 C455R NPFFR2 V239A NPFFR2 V353A NPHP1 Q360K NPHP1 S630L NPHP3 K319E NPHP4 V312L NPHP4 V944I NPHS1 M790I NPHS1 R743H NPHS1 R864H NPHS1 S1141F NPHS2 R196Q NPIPL2 A333T NPIPL2 G14E NPIPL2 H211R NPIPL2 R301S NPIPL2 R4C NPIPL2_ENST00000429990 A394T NPIPL2_ENST00000429990 R4C NPIP_ENST00000432470 A301V NPM1 W290G NPPA T6S NPPB R99W NPR1 G541S NPR1 R798C NPS Y37H NPSR1 F85L NPSR1 R235Q NPSR1_ENST00000359791 R235Q NPTN A230T NPTXR R326W NPVF G93W NPW D149A NPY L78F NPY2R P24T NPY2R R187W NPY2R V153I NP_001073948_1 R621Q NQO1 R211C NQO2 S108G NR0B1 T468A NR1D1 A148T NR1H2 N350I NR1H3 R226W NR1H4 G149C NR1H4 R353Q NR2C2 E543G NR2C2 R217L NR2E1 R274Q NR2F2 L172P NR2F2 L363R NR2F2 R108W NR3C1 L773P NR3C1 M605I NR3C2 R590Q NR4A1 L562M NR4A2 D144G NR4A2 R289H NR4A2 R314L NR4A2 R563H NR5A1 A340V NR5A1 A399T NR5A2 D175E NR5A2 L424I NRAP A571T NRAP D1499N NRAP D1605A NRAP E327K NRAP K374N NRAP R884C NRAP S600P NRAS A11T NRAS A146T NRAS A18T NRAS A59D NRAS A59T NRAS D92N NRAS G10E NRAS G12A NRAS G12C NRAS G12D NRAS G12N NRAS G12R NRAS G12S NRAS G12V NRAS G13A NRAS G13C NRAS G13D NRAS G13R NRAS G13S NRAS G13V NRAS G60E NRAS Q61E NRAS Q61H NRAS Q61K NRAS Q61L NRAS Q61P NRAS Q61R NRAS R68T NRAS S65C NRAS T50I NRAS T58I NRF1 T324M NRG1 C190G NRG1 R282H NRG1 V486M NRG1_ENST00000520407 C371G NRG1_ENST00000520502 C245G NRG1_ENST00000520502 G50E NRG1_ENST00000521670 C190G NRG1_ENST00000521670 R277H NRG2 T246M NRG2 V358I NRG2_ENST00000544729 T154M NRG3 C366F NRG3 D562H NRG3 E514K NRG3 F331C NRG3 L407P NRG3 R318W NRG3 S532N NRG3 T150M NRG3 T263P NRG3_ENST00000372142 C145F NRG3_ENST00000372142 E293K NRG3_ENST00000372142 F110C NRG3_ENST00000372142 R97W NRG3_ENST00000372142 S335N NRIP3 R77Q NRK A681E NRK S108P NRK S424C NRK S708P NRK_ENST00000428173 R142I NRK_ENST00000428173 R902W NRK_ENST00000428173 S108P NRK_ENST00000428173 S709P NRP1 G423S NRP1 L119I NRP2 K856N NRP2 R31H NRXN1 G347S NRXN1_ENST00000404971 M354I NRXN1_ENST00000406316 G1382S NRXN1_ENST00000406316 M321I NRXN1_ENST00000536085 G1114R NRXN1_ENST00000536085 G1452S NRXN1_ENST00000536085 M354I NRXN1_ENST00000536085 R1101W NRXN2 D1081N NRXN2 G962S NRXN2 P1693L NRXN2_ENST00000301894 P647L NRXN3 A17T NRXN3 E34G NRXN3 R103C NRXN3 R741W NRXN3_ENST00000428277 R109W NRXN3_ENST00000428277 T108M NR_002217_1 G142D NSA2 V135A NSD1 I2007T NSD1 T2029A NSD1 V1820M NSD1_ENST00000439151 I2007T NSD1_ENST00000439151 T2029A NSD1_ENST00000439151 V1820M NSF Q696R NSFL1C R199K NSFL1C R329W NSMAF T611A NSMAF_ENST00000427130 I17S NSMAF_ENST00000427130 T642A NSMCE1 R35C NSRP1 E441G NSUN2 L699P NSUN5P2 W47S NSUN6 E25G NSUN6 S47P NSUN7_ENST00000381782 R541W NT5C1B G514R NT5C1B R36C NT5C1B R392W NT5C3L N168T NT5DC1 V98L NT5DC2 R280W NT5DC3 R444Q NT5DC3 R444W NT5DC3 R48Q NT5DC3_ENST00000392876 R123Q NT5DC3_ENST00000392876 R519Q NT5DC3_ENST00000392876 R519W NT5E I343V NT5E R273W NT5E V300I NTF3 P102L NTF3 R138W NTF3 R238W NTF3 R241W NTF3 R94Q NTM R213W NTM R62W NTM R87H NTM T166M NTM_ENST00000374791 H9Y NTM_ENST00000374791 R213W NTM_ENST00000374791 R62W NTM_ENST00000374791 R87H NTM_ENST00000374791 T166M NTN3 A88D NTN3 D440N NTN4 E59K NTN4 P394L NTN5 V39M NTNG1 A230V NTNG1 M87T NTNG1 S289T NTNG1 V271I NTNG1_ENST00000370068 A230V NTNG1_ENST00000370068 C384R NTNG1_ENST00000370068 M87T NTNG1_ENST00000370068 S289T NTNG1_ENST00000370068 V271I NTNG1_ENST00000370071 M87T NTRK1 A107V NTRK1 A336E NTRK1 P695S NTRK1 P749L NTRK1 R342Q NTRK1 R508W NTRK1 V420M NTRK1 V683G NTRK1_ENST00000392302 A306E NTRK1_ENST00000392302 A5T NTRK1_ENST00000392302 A77V NTRK1_ENST00000392302 P659S NTRK1_ENST00000392302 P713L NTRK1_ENST00000392302 R312Q NTRK1_ENST00000392302 V647G NTRK2 A11V NTRK2 A199T NTRK2 A89T NTRK2 G261R NTRK2 K814R NTRK2 L138P NTRK2 V689M NTRK2_ENST00000304053 L138P NTRK2_ENST00000376214 A199T NTRK2_ENST00000376214 K814R NTRK2_ENST00000376214 L138P NTRK2_ENST00000376214 V689M NTRK3 E287D NTRK3 G608S NTRK3 H677Y NTRK3 K732T NTRK3 L248P NTRK3 L336P NTRK3 L336Q NTRK3 L760P NTRK3 L813F NTRK3 R721H NTRK3 R731L NTRK3 R731Q NTRK3 T332M NTRK3 V307L NTRK3 Y752C NTRK3_ENST00000317501 L248P NTRK3_ENST00000317501 L336P NTRK3_ENST00000317501 T332M NTRK3_ENST00000360948 L248P NTRK3_ENST00000360948 L336P NTRK3_ENST00000360948 L774P NTRK3_ENST00000360948 R745L NTRK3_ENST00000360948 T332M NTRK3_ENST00000360948 Y766C NTS R158I NTSR2 A327V NUAK1 D292N NUAK1_ENST00000261402 D292N NUB1 R349Q NUBP1 P201L NUBP1 R145G NUBP2 A268T NUBP2 T133M NUCKS1 H74Y NUDCD1 R521H NUDCD1 T283A NUDT1 T178M NUDT14 E177K NUDT15 S83Y NUDT17 L248I NUDT21 D72G NUDT6 R40Q NUDT8 V79L NUF2 L223S NUF2 S340L NUF2_ENST00000271452 L223S NUFIP2 R301W NUMA1 A1102T NUMA1 R1966H NUMA1 R692S NUMB T604A NUMBL R94W NUP107 E16K NUP133 G448R NUP133 M735I NUP133 S189R NUP153 A808T NUP160 A1140V NUP160 D1333G NUP160 D1333H NUP160 D1333Y NUP160 D993N NUP188 D307G NUP188 T601A NUP188 T601M NUP188 V200A NUP205 N887D NUP205 P657A NUP205 R154W NUP205 R1808L NUP205 R582H NUP205 V788A NUP210 G1052S NUP210 R984H NUP210 S308L NUP210L E1418G NUP210L S145L NUP214 A1392V NUP214 E1580G NUP214 E926D NUP214 I95N NUP54 A121V NUP54 M343I NUP54 M343T NUP54 M343V NUP62 A279T NUP62 S283T NUP88 A302V NUP88 M480V NUP93 E14K NUP93 G65R NUP93 R525Q NUP93 R525W NUP98 E1585D NUP98 G1652V NUP98 Y493F NUPL2 P216L NUSAP1 E7K NUTF2 A70V NWD1 A790T NWD1 R1132H NWD1 T1137M NWD1_ENST00000524140 T1272M NXF1 L212R NXF3 N211S NXF5 N289S NXF5 R50Q NXN R220Q NXPH1 K117E NXPH1 T171A NXPH2 G69S NXPH2 P64L NXPH2 R188H NXPH2 R196W NXPH4 P273L NXT1 E18G NXT2 R36Q NYX A291T O00434_HUMAN R94C O3FAR1 R369I O5AK3_HUMAN D70N O60411_HUMAN V105E OAS1 E175K OAS1 E176K OAS1 V262A OAS1 V262L OAS1_ENST00000202917 D358N OAS1_ENST00000202917 E175K OAS1_ENST00000202917 E176K OAS1_ENST00000202917 V262A OAS1_ENST00000452357 E175K OAS1_ENST00000452357 E176K OAS1_ENST00000452357 V262A OAS3 R469M OAT L58S OBFC1 H317Y OBFC2B P113S OBSCN A5093T OBSCN A5646V OBSCN A6358V OBSCN R2437W OBSCN R245C OBSCN R5140H OBSCN R5392Q OBSCN R5498W OBSCN R7331H OBSCN_ENST00000284548 G6317R OBSCN_ENST00000284548 Q5891E OBSCN_ENST00000284548 R2383W OBSCN_ENST00000284548 R4916W OBSCN_ENST00000359599 R245C OBSCN_ENST00000359599 R2666W OBSCN_ENST00000570156 Q6603E OBSCN_ENST00000570156 R2567W OBSCN_ENST00000570156 R5628W OBSCN_ENST00000570156 R7461H OBSL1_ENST00000404537 T1436M OC90 E255G OC90_ENST00000262283 E493G OCLN A81S OCM2 A90V OCRL L863P ODAM S25P ODC1 D10G ODC1 E7D ODC1 G411R ODC1 S456L ODC1 T396A ODF1 I125T ODF1 R242Q ODF2 A584V ODF2 Q328R ODF2 R338C ODF2L R448Q ODF2_ENST00000372796 G7D ODF2_ENST00000372796 Q352R ODZ1 A2258T ODZ1 A2258V ODZ1 C1110R ODZ1 D118G ODZ1 D1723H ODZ1 D477G ODZ1 F2269L ODZ1 K2167E ODZ1 L342F ODZ1 Q2235R ODZ1 R2376G ODZ1 R2376K ODZ1 R2500Q ODZ1 R2549W ODZ1 R2634L ODZ1 R2634W ODZ1 R395W ODZ1 S1222L ODZ1 S2288N ODZ1 S85P ODZ1 T671A ODZ1 V94I ODZ2 L991I ODZ2 R183H ODZ2 S1790A ODZ2 T2009M ODZ2 V132I ODZ2_ENST00000518659 L1158I ODZ2_ENST00000518659 R350H ODZ2_ENST00000518659 T2176M ODZ2_ENST00000518659 V299I ODZ2_ENST00000519204 R229H ODZ2_ENST00000519204 T2055M ODZ2_ENST00000519204 V178I ODZ3 A1177V ODZ3 R1195W ODZ3 R1196W ODZ3 R293I ODZ3 T2202M ODZ3 V690I ODZ4 R1212W ODZ4 S1902Y ODZ4_ENST00000278550 R1212W ODZ4_ENST00000278550 S1902Y ODZ4_ENST00000278550 V2647I OFD1 R644H OGDHL A400T OGDHL R247H OGDHL R30C OGDHL R347C OGFOD1 D74H OGFR E576K OGFR S557T OGFR S577T OGFRL1 E427K OGN I142K OGT F868L OGT I54M OGT R107C OGT_ENST00000373719 F878L OGT_ENST00000373719 I64M OGT_ENST00000373719 R117C OIT3 Q465P OIT3 R496L OIT3 R506H OLA1 E168Q OLAH G262V OLFM1 Q451K OLFM1 R254H OLFM1 T393M OLFM2 R213H OLFM2 R58Q OLFM4 G178V OLFM4 G4C OLFM4 K132N OLFM4 V77L OLFML1 E113K OLFML2B E260K OLFML2B E310D OLFML2B V530I OLFML2B V678I OLIG2 A309S OLIG3 R93H OLIG3 R95Q OLR1 L66P OMD Q95R OMG M104K ONECUT2 H184Q ONECUT2 R430H ONECUT2 V470I OPA1 E613Q OPA1 R38Q OPA3_ENST00000263275 R116C OPCML A204T OPCML E201K OPCML R71C OPCML T46M OPCML_ENST00000524381 A197T OPCML_ENST00000524381 T39M OPHN1 T682A OPLAH E647K OPLAH R31Q OPN1MW2 R268H OPN4 G227V OPN4 K304E OPN4 V348I OPRK1 C345R OPRK1 R252H OPRK1 S186L OPRK1 V285I OPRK1 V380E OPRL1 D255G OPRL1 T365M OPRM1 R260H OPRM1 R347Q OPRM1 R369C OPRM1_ENST00000360422 R260H OPRM1_ENST00000360422 R347Q OPRM1_ENST00000360422 R369C OPRM1_ENST00000434900 R353H OPRM1_ENST00000434900 R440Q OPRM1_ENST00000434900 R462C OPTC R167H OPTC R198C OPTN E324Q OR10A2 K250E OR10A3 S93Y OR10A4 A244T OR10A4 L33F OR10A4 M82V OR10A6 R293Q OR10A7 R261Q OR10A7 R261W OR10AG1 V115M OR10C1 P78S OR10C1 R63C OR10G4 P181Q OR10G4 R226W OR10G4 T279M OR10G7 M196I OR10G7 P128Q OR10G7 R226Q OR10G7 R233K OR10G7 T159A OR10G8 A159T OR10G8 C119Y OR10G8 F85S OR10G8 G107W OR10G8 K233R OR10G8 L177F OR10G8 P77T OR10G8 S133N OR10G8 S146G OR10G9 I28V OR10G9 V221I OR10H1 A224D OR10H1 V134M OR10H2 V75M OR10H3 G191E OR10H3 R54C OR10H3 R7S OR10H4 F179L OR10H4 L167F OR10H5 G41D OR10J1 I120T OR10J1 K318T OR10J1_ENST00000328408 I276T OR10J3 S268P OR10J5 R122C OR10K1 I126M OR10K1 R220H OR10K2 M288I OR10Q1 A280T OR10Q1 G150C OR10Q1 R241W OR10R2 R142C OR10R2 T295M OR10S1 R136C OR10T2 A183E OR10T2 L213M OR10T2 L28F OR10T2 Q81K OR10T2 Q81R OR10Z1 L205F OR11G2 D159Y OR11G2 G49D OR11G2 V199I OR11H1 Q7H OR11H1 V89A OR11H12 I141V OR11H12 K95E OR11H12 V89A OR11H4 C207R OR11H4 P89T OR11H4 S85P OR11H6 F119L OR11H6 R140Q OR11H6 S212Y OR11L1 H265Q OR11L1 T74K OR12D3 F250L OR12D3 T97I OR13A1 V212I OR13C3 Y253D OR13C4 K88N OR13C5 I295M OR13C5 M144I OR13C5 M144T OR13C5 R234I OR13C8 T246A OR13D1 F283L OR13D1 F44L OR13F1 A106D OR13F1 A264T OR13G1 H241Y OR13G1 R258H OR13G1 T237K OR13J1 R122H OR14A16 A36S OR14A16 C139S OR14A16 L4I OR14C36 E109V OR14C36 I212V OR14C36 L182M OR14C36 T222A OR14I1 K305N OR14J1 H173N OR1A1 R293W OR1A1 R54H OR1E1 K270N OR1I1 L32P OR1I1 T192A OR1J1 L317P OR1J2 D109N OR1J2 F61L OR1J2 F61S OR1J2 K270N OR1J2 R20W OR1K1 A149T OR1K1 M148I OR1L1 R25I OR1L1 V133A OR1L3 L66F OR1L6 R159Q OR1L8 M84V OR1L8_ENST00000304865 M84V OR1M1 R220H OR1Q1 M198I OR1Q1 R227W OR1S1 A313D OR1S1 G11S OR1S1 G17E OR1S1 G46S OR1S1 I147T OR1S1 I155T OR1S1 I268T OR1S1 K101N OR1S1 L148F OR1S1 L49V OR1S1 N78Y OR1S1 P151A OR1S1 R240G OR1S1 V260I OR1S1 Y133F OR1S2 A151P OR1S2 A34D OR1S2 D183N OR1S2 E17G OR1S2 F148L OR1S2 I66T OR1S2 M206L OR1S2 M298I OR1S2 S11G OR1S2 S31F OR1S2 T147I OR1S2 V122I OR1S2 V49L OR1S2 V53I OR1S2 Y78N OR2A12 S264G OR2A12 S264N OR2A12 V60D OR2A14 A123V OR2A14 E267Q OR2A14 M117L OR2A25 A71T OR2A5 R220H OR2A5 S279N OR2A5 T101A OR2AG1 R299G OR2AG1 T131K OR2AG2 Q270R OR2AG2 S264F OR2AK2 E195D OR2AK2 K154N OR2AK2 V45I OR2AT4 S152R OR2B11 T167M OR2B11 V252I OR2B3 F12S OR2B6 G96S OR2C3 L70Q OR2D2 A237T OR2D3 S177R OR2F1 D70V OR2F2 T75A OR2F2 V77I OR2G3 D52E OR2G3 F43V OR2G3 G2V OR2G3 H159N OR2G3 M59I OR2G6 P138H OR2G6 R172H OR2G6 Y278H OR2J2 Y279H OR2J3 K93N OR2L13 A107V OR2L13 F176L OR2L13 G212D OR2L13 G212V OR2L13 L264I OR2L13 R260W OR2L13_ENST00000366478 F176L OR2L13_ENST00000366478 G212D OR2L13_ENST00000366478 G212V OR2L13_ENST00000366478 R260W OR2L2 R260S OR2L2 R265Q OR2L2 S74Y OR2L2 T105A OR2L2 V198G OR2L3 G97A OR2L3 M1I OR2L3 M227I OR2L3 R260C OR2L3 R265Q OR2L8 G212A OR2L8 R260H OR2M2 F177L OR2M2 F209V OR2M2 F35I OR2M2 I105M OR2M2 M144I OR2M2 Q6R OR2M2 R234H OR2M3 E232K OR2M3 L246F OR2M3 N42K OR2M3 R235H OR2M3 T133A OR2M4 F18L OR2M4 I74F OR2M4 R293C OR2M4 T267M OR2M5 D191N OR2M5 E111K OR2M5 F35L OR2M5 H244N OR2M5 M45I OR2M5 R293H OR2M7 V281I OR2T11 G95V OR2T12 E194K OR2T12 F209L OR2T12 R227H OR2T12 V181M OR2T2 M82I OR2T2 T58K OR2T27 P24S OR2T27 S310P OR2T27 V260M OR2T3 A244T OR2T33 D82G OR2T33 E178K OR2T33 H317R OR2T33 M69V OR2T34 F183S OR2T34 H109Y OR2T34 L60P OR2T4 E212D OR2T5 P28S OR2T6 D52Y OR2T6 I40K OR2T6 L55P OR2T6 R139Q OR2T8 A80V OR2T8 D82G OR2V2 D122G OR2V2 L158F OR2V2 P134T OR2W3 V199I OR2W5 A211T OR2W5 R137C OR2W5 R253Q OR2W5 R258H OR2Y1 A189V OR2Y1 R268C OR2Z1 A255T OR3A1 Q189R OR3A1 R232C OR4A15 M31I OR4A15 R288M OR4A15 T66M OR4A16 L64S OR4A16 P282H OR4A16 T190A OR4A16 T36A OR4A47 M255L OR4A5 A62S OR4A5 G14C OR4A5 I213V OR4A5 L30V OR4A5 Q93H OR4B1 R224G OR4B1 T36M OR4C11 C176F OR4C12 T190A OR4C13 D119Y OR4C13 Y221H OR4C15 A317D OR4C15 E364D OR4C15 L116V OR4C15 P36L OR4C15 S295Y OR4C15 V299A OR4C15 V299I OR4C16 R31H OR4C46 V41A OR4C46 Y40N OR4C6 R231W OR4D1 L33F OR4D10 F100L OR4D10 F100S OR4D10 I74T OR4D10 V156M OR4D10_ENST00000530162 F102L OR4D10_ENST00000530162 F102S OR4D10_ENST00000530162 I76T OR4D10_ENST00000530162 V158M OR4D11 C179Y OR4D11 C97Y OR4D11 R64H OR4D2 V209A OR4D2 V209I OR4D5 A33D OR4D5 A33T OR4D5 L212P OR4D6 G230V OR4D9 L85I OR4E2 L301P OR4F15 F250L OR4F17 F113C OR4F6 R21W OR4K1 F26L OR4K1 F26S OR4K1 R89C OR4K1 V103I OR4K1 V153I OR4K1 V34L OR4K1 V9A OR4K1 W149C OR4K13 D52A OR4K13 M71I OR4K14 L167F OR4K14 R21Q OR4K14 R261W OR4K14 R305Q OR4K14 R306P OR4K15 L236I OR4K2 C254F OR4K2 K80N OR4K5 F102L OR4K5 M136I OR4K5 Y35F OR4L1 A145V OR4L1 K227N OR4L1 K228Q OR4L1 R302L OR4L1 R302W OR4M1 A238S OR4M2 A161S OR4M2 L62M OR4M2 V117L OR4N2 H105R OR4N2 R122C OR4N2 T207K OR4N4 L17P OR4N4 N283S OR4N4 R290H OR4N4 S87Y OR4N5 D175N OR4N5 P284H OR4N5 R290C OR4Q3 D269N OR4Q3 L141I OR4Q3 L40M OR4Q3 P168S OR4Q3 R132H OR4S1 K303T OR4S1 N289S OR4S1 R120C OR4S2 R120C OR4S2 R120H OR4S2 R136W OR4S2 S236Y OR4X1 V143M OR4X2 L55I OR51A4 C181Y OR51A4 C207R OR51A4 R124K OR51A7 L234P OR51A7 M81T OR51A7 P160S OR51B2 N265T OR51B2 V266M OR51B4 A226V OR51B6 G111C OR51D1 R144H OR51E1 R270C OR51E1 S180F OR51E1 V187A OR51E1 V244A OR51E2 A66G OR51E2 M1I OR51E2 R301L OR51E2 S88F OR51E2 T239A OR51F1 S179F OR51F2 R67P OR51G1 P287T OR51G1 S149R OR51I2 P160S OR51L1 R233L OR51M1 C201S OR51Q1 I208V OR51Q1 L73M OR51Q1 R52C OR51S1 R159Q OR51S1 R194C OR51T1 M169I OR51T1 M169V OR51T1 P298Q OR51V1 P263H OR51V1 V280M OR52A1 L47I OR52A5 L143V OR52A5 L75R OR52B2 A149S OR52B2_ENST00000530810 A149S OR52D1 E24G OR52E2 A192V OR52E4 P2S OR52E4 P81S OR52E4 T110S OR52H1 V219L OR52I2 A215V OR52I2 R164I OR52J3 E93K OR52J3 R167H OR52K1 R268H OR52K1 S219Y OR52K1 T136M OR52K2 L251F OR52K2 R92W OR52L1 E94K OR52M1 R168Q OR52N1 V227I OR52R1 S194Y OR52W1 R127H OR52W1 R133C OR56A1 F114Y OR56A3 A184V OR56A3 L79H OR56A3 V43L OR56B4 A145V OR5AC2 A198T OR5AC2 A245T OR5AC2 R263H OR5AK2 I196T OR5AK2 I196V OR5AN1 I104T OR5AN1 R123S OR5AN1 S244F OR5AP2 R267H OR5AR1 Q100K OR5AS1 M39I OR5AS1 P287T OR5AS1 R122C OR5AS1 R138S OR5AS1 S265G OR5AU1 R312H OR5AU1 R323H OR5B17 L210P OR5B17 M266I OR5B17 R163H OR5B2 K78N OR5B2 S262Y OR5B2 V248A OR5B2 V248I OR5B21 A123V OR5B21 V196M OR5C1 R24C OR5D13 F73V OR5D13 P23Q OR5D13 R124H OR5D13 R231Q OR5D13 R236H OR5D14 H246N OR5D14 R236H OR5D16 A118V OR5D16 V282L OR5D16 V282M OR5D18 A220V OR5D18 F182L OR5D18 F62L OR5D18 R235C OR5D18 R235H OR5F1 D271E OR5F1 L14I OR5F1 V13I OR5H1 M40I OR5H1 M40L OR5H1 W50R OR5H14 D309Y OR5H15 L255P OR5H6 C39R OR5H6 D285N OR5H6 R251Q OR5I1 E198G OR5I1 R22H OR5J2 A173G OR5J2 S167P OR5K2 T146A OR5K4 R143W OR5L1 G16V OR5L1 H244Q OR5L1 H310Y OR5L1 L199V OR5L1 M212I OR5L1 P182L OR5L1 R141H OR5L1 S146Y OR5L1 S186I OR5L1 T153M OR5L2 F12V OR5L2 F68S OR5L2 T110S OR5L2 V59M OR5M10 A180T OR5M10 A40S OR5M11 R130C OR5M1_ENST00000526538 A106T OR5M1_ENST00000526538 A33V OR5M3 A156T OR5M3 F166V OR5M3 T158A OR5M8 G241V OR5M9 R225C OR5M9 T244M OR5P2 M55T OR5P2 V109I OR5P2 V212I OR5R1 D121Y OR5R1 Q232H OR5R1 Q232R OR5T1 F322L OR5T1 S275R OR5T1 S276F OR5T3 M290I OR5V1 D296G OR5V1 G170S OR5V1 P129S OR5V1 R261Q OR5V1 S313F OR5W2 F101L OR5W2 K298N OR5W2 L32V OR5W2 R165H OR5W2 R261Q OR5W2 R261W OR6A2 R127C OR6A2 R266L OR6A2 R266W OR6A2 R298H OR6B1 A277T OR6B3 R91C OR6B3 W72R OR6C1 S169P OR6C1 V143A OR6C2 L31F OR6C4 R62W OR6C65 L104I OR6C70 M131I OR6C70 S308P OR6K2 L165M OR6K2 R262L OR6K3 E127D OR6K3 F44L OR6K3 R155W OR6K6 T29M OR6M1 S207F OR6M1 T55A OR6N1 D121N OR6N1 F245L OR6N1 I146V OR6N1 R165C OR6N2 F257V OR6N2 R261W OR6P1 L201R OR6S1 R296C OR6S1 V15I OR6T1 A223S OR6T1 R131L OR6T1 R54C OR6T1 S217Y OR6V1 G301W OR6V1_ENST00000418316 G301W OR6X1 A186T OR6Y1 A304E OR6Y1 V129L OR7A5 A204V OR7A5 R165W OR7C1 R122H OR7C2 T133A OR7C2 V225A OR7C2 V225I OR7D2 G152S OR7D4 E173K OR7D4 M81I OR7D4 M81T OR7D4 P175L OR7E24 P247T OR7G2 T286S OR7G2 V279M OR7G3 V49I OR8A1 S154P OR8B12 L65P OR8B12 R23W OR8B2 K271N OR8B8 S74F OR8D1 V248G OR8D2 K298N OR8D2 R306M OR8H1 T15M OR8H2 N7D OR8H3 F13V OR8H3 M163T OR8H3 R51L OR8I2 M101K OR8I2 T278M OR8J3 M39I OR8J3 R227M OR8J3 S160L OR8K1 F110V OR8K1 G28E OR8K1 L150Q OR8K1 N212K OR8K1 Q106H OR8K1 R128C OR8K1 R70K OR8K1 Y103C OR8K3 D180G OR8K3 K235N OR8K3 L112R OR8K3 L226P OR8K5 L140Q OR8K5 M136I OR8K5 M219I OR8S1 A99V OR8U1 A9V OR8U1 M108I OR9A4 F31L OR9A4 R307C OR9G4 D286G OR9G4 F76V OR9G4 R106H OR9Q1 A230T OR9Q1 A230V OR9Q1 L32F OR9Q1 V223M OR9Q2 C72R OR9Q2 G89S OR9Q2 Y73F ORAI2 R91Q ORAOV1 S118L ORC1 I317V ORC1 R134W ORC4 T409A OS9 A239G OS9 D420G OS9 R430Q OSBP2 E109Q OSBPL11 A109V OSBPL11 M463V OSBPL11 S184P OSBPL1A A660T OSBPL1A F248L OSBPL1A T285A OSBPL2 I298V OSBPL2 P100S OSBPL3 S202C OSBPL5 R605M OSBPL5 R807W OSBPL6 S462I OSBPL8 G534V OSBPL8 P215T OSCP1 T141A OSMR M949T OSMR P777S OSR1 T261A OSTM1 N216K OSTN R115Q OTC Q145K OTC Q270R OTOA A705T OTOA F444L OTOA T746M OTOF E1771G OTOF T388M OTOF_ENST00000361394 E1004G OTOF_ENST00000402415 P21L OTOGL_ENST00000458043 A2196V OTOGL_ENST00000458043 A2217E OTOGL_ENST00000458043 P773L OTOL1 D288N OTOL1 R399Q OTOL1 V431I OTOP1 L461F OTOP1 R232W OTOP1 S345L OTOP1 V71M OTOP2 A392V OTOP2 R548H OTOP3 P476L OTOP3 R64Q OTOR F57L OTOR P53L OTOR V97M OTUD1 P379S OTUD3 R277I OTUD4 R1024Q OTUD4 R905T OTUD4 T909I OTUD5 R274W OTUD5_ENST00000453548 R250W OTUD6A E276K OTUD6A T214M OTUD6A V211M OTUD7A V513M OTUD7B R270Q OTUD7B R832W OTX2 Q109P OTX2 Q109R OVCH1 L109P OVCH1 P859S OVCH1 P861Q OVCH1 R28C OVCH1 R862Q OVCH1 V102A OVGP1 E170D OVGP1 L662P OVGP1_ENST00000369728 E234D OVGP1_ENST00000369728 L726P OVOL2 T222M OXA1L H252L OXCT1 R110H OXGR1 V252I OXNAD1 E221K OXR1 S346L OXR1_ENST00000297447 S2C OXR1_ENST00000442977 S435L OXSM F106L OXSR1 P433S P2RX2 T135P P2RX2 V354A P2RX3 G244S P2RX7 F188L P2RX7 V104A P2RY1 A327V P2RY1 R195H P2RY10 L195F P2RY10 R146C P2RY11 V66D P2RY12 R256Q P2RY13 M291I P2RY13 M291T P2RY13 W197L P2RY13_ENST00000325602 M312I P2RY14 L140P P2RY2 A83T P2RY2 A83V P2RY2 R131L P2RY6 R100H P2RY6 R328H P2RY6 V271I P2RY8 A142S P2RY8 L220Q P4HA3 T445M PAAF1 M154I PABPC1 I195V PABPC1 T319I PABPC3 A217T PABPC3 G234R PABPC3 G234V PABPC3 R287G PABPC3 R374H PABPC4L R233Q PABPC4L_ENST00000529122 R233Q PABPC5 A157T PABPC5 V203I PABPCP2 N120T PABPN1 N155S PACRG R73Q PACS2 P710L PACSIN2 Q331H PADI1 D324G PADI1 R58S PADI1 W139C PADI2 F573L PADI3 G244R PADI3 G509R PADI4 A294V PAEP Q126K PAFAH1B2_ENST00000527958 I121V PAFAH2 E64K PAG1 R47Q PAGE2 E74G PAH E182G PAIP1 E461Q PAK2 E8G PAK2 E8K PAK2 S2C PAK2_ENST00000327134 E8G PAK2_ENST00000327134 S2C PAK3 D183Y PAK3 M138I PAK6 A75V PAK7 D214V PAK7 D421N PAK7 D508G PAK7 P351L PAK7 R483Q PAK7 S226P PAK7 S243R PAK7 S312P PAK7 T397K PAK7 T538A PALB2 D1168G PALB2 E15A PALB2 Q370R PALLD D947H PALLD H823R PALLD M230I PALLD P28L PALLD_ENST00000335742 D789H PALLD_ENST00000335742 H665R PALM2 E35K PALM2 T325M PALM2-AKAP2 A281D PALM2-AKAP2 E33K PALM2-AKAP2 R499H PALMD R115W PAMR1 A686V PAN2 N529S PAN3 A240T PAN3 S380N PANK3 E233G PANK3 F121C PANK3 I301F PANK3 R260I PANK4 A6G PANX3 A55T PANX3 R182Q PANX3 S344T PAOX H282R PAPD4 R90W PAPD7 K118N PAPOLA K736N PAPOLA R303M PAPOLG A44T PAPOLG V433I PAPPA A1360T PAPPA A873S PAPPA N165K PAPPA R1087W PAPPA T1015A PAPPA2 A175T PAPPA2 A775T PAPPA2 H939Y PAPPA2 R1305H PAPPA2 R205W PAPPA2 R901Q PAPPA2 T761K PAPPA2 V1689M PAPPA2_ENST00000367661 A175T PAPPA2_ENST00000367661 A775T PAPPA2_ENST00000367661 R526H PAPSS1 F153S PAPSS1 F343V PAPSS1 R386Q PAQR3 A188V PAQR5 I304V PAQR5 S98P PAQR9 A151T PAQR9 R243H PARD3 L108F PARD3 R1068Q PARD3 R910C PARD3B A951V PARD3B E791K PARD3B F622S PARD3B L231I PARD3B R426L PARD3B_ENST00000351153 A537T PARD3B_ENST00000351153 A944V PARD3B_ENST00000351153 E784K PARD3B_ENST00000351153 F684S PARD3B_ENST00000358768 A951V PARD3B_ENST00000358768 E791K PARD3B_ENST00000358768 F622S PARD6A R262C PARD6G A238T PARG A584T PARG T716A PARK2 Q347H PARK7_ENST00000493678 R48H PARN R505Q PARN_ENST00000437198 R505Q PARP1 A178V PARP1 A625T PARP1 K59N PARP1 M615T PARP1 M615V PARP10 A496V PARP11 K242R PARP14 R1411W PARP14 T912I PARP14_ENST00000474629 T1075I PARP15_ENST00000464300 I223S PARP16 F138C PARP16 K93M PARP4 I1039T PARP4 L1080F PARP4 L1475F PARP4 M1043I PARP4 V458I PARP8 E842D PARP8 F578L PARP8 P294L PARS2 S18R PARVA K323T PARVB V322F PASD1 S463F PASD1 S678P PASD1_ENST00000370357 S463F PASD1_ENST00000370357 S678P PASK E100K PASK R880H PASK_ENST00000234040 E100K PASK_ENST00000234040 R880H PATL1_ENST00000300146 P313Q PAX3 N125D PAX3 R236H PAX3 T424M PAX3 V463D PAX3_ENST00000258387 N125D PAX3_ENST00000409828 N125D PAX4 A290P PAX5 D53V PAX5 G24R PAX5 I139T PAX5 I301T PAX5 P80R PAX5 R197H PAX5 R59G PAX5 T75R PAX5 V151I PAX5 V26G PAXIP1 F457L PAXIP1 M979V PAXIP1 N341D PAXIP1 R449H PAXIP1_ENST00000397192 F491L PAXIP1_ENST00000397192 N375D PAXIP1_ENST00000397192 R483H PBRM1 E1287K PBRM1 G1231R PBRM1 P1048R PBRM1 R79I PBRM1_ENST00000296302 G1231R PBRM1_ENST00000356770 G1199R PBX2 E70K PBX4 E278G PBX4 T291M PC I740M PC M881I PCBP1 L100Q PCBP1 L102Q PCCA R230H PCCA S562L PCCA T117P PCDH1 R370C PCDH10 A830T PCDH10 V477M PCDH11X A1206T PCDH11X D188N PCDH11X D42G PCDH11X E177K PCDH11X N545Y PCDH11X R1188Q PCDH11X T1131N PCDH11X V17M PCDH11X Y919H PCDH11X_ENST00000395337 D188N PCDH11X_ENST00000395337 E177K PCDH11X_ENST00000395337 N545Y PCDH11X_ENST00000395337 V17M PCDH11X_ENST00000395337 Y919H PCDH11X_ENST00000504220 V17M PCDH11Y G91R PCDH11Y L445I PCDH11Y R250K PCDH12 A268T PCDH12 G599S PCDH15 D435N PCDH15 D847N PCDH15 E132V PCDH15 E829K PCDH15 G849R PCDH15 L725V PCDH15 L803I PCDH15 M264I PCDH15 R1350H PCDH15 R1545I PCDH15 R630M PCDH15_ENST00000395438 D435N PCDH15_ENST00000395438 L725V PCDH15_ENST00000395438 R630M PCDH15_ENST00000414778 D440N PCDH15_ENST00000414778 E834K PCDH15_ENST00000414778 G854R PCDH15_ENST00000414778 L730V PCDH15_ENST00000414778 R1355H PCDH15_ENST00000414778 R635M PCDH15_ENST00000417177 D440N PCDH15_ENST00000417177 D852N PCDH15_ENST00000417177 E137V PCDH15_ENST00000417177 E834K PCDH15_ENST00000417177 G854R PCDH15_ENST00000417177 L730V PCDH15_ENST00000417177 L808I PCDH15_ENST00000417177 M269I PCDH15_ENST00000417177 R1355H PCDH15_ENST00000417177 R1552I PCDH15_ENST00000417177 R635M PCDH17 E465K PCDH17 L1072V PCDH17 M780I PCDH17 N504K PCDH17 S514L PCDH17 V519M PCDH18 E1098K PCDH18 G977S PCDH18 M4I PCDH18 M790V PCDH18 R582C PCDH18 R582H PCDH18 T419P PCDH18 T585M PCDH19 E599K PCDH19 R286C PCDH19_NM_020766_1 E100K PCDH20 E235D PCDH20 V496A PCDH20 V496M PCDH20_ENST00000409186 V523A PCDH20_ENST00000409186 V523M PCDH7 D726N PCDH7_ENST00000361762 D773N PCDH8 A974T PCDH8 H611P PCDH8 K956R PCDH9 A21T PCDH9 E534K PCDH9 N1014S PCDH9 Q1224H PCDHA1 A519T PCDHA1 P206Q PCDHA1 R755W PCDHA1 T633M PCDHA10 A238T PCDHA10 A595V PCDHA10 D684E PCDHA10 G652S PCDHA10 R427W PCDHA10 R635W PCDHA10 T389M PCDHA10 V447M PCDHA10_ENST00000307360 A536V PCDHA10_ENST00000307360 A858V PCDHA10_ENST00000307360 G539A PCDHA10_ENST00000307360 R427W PCDHA10_ENST00000307360 R753Q PCDHA10_ENST00000307360 R898W PCDHA10_ENST00000307360 T389M PCDHA10_ENST00000307360 V447M PCDHA11_ENST00000398640 A743T PCDHA11_ENST00000398640 A859V PCDHA11_ENST00000398640 D948E PCDHA11_ENST00000398640 G916S PCDHA11_ENST00000398640 R227Q PCDHA11_ENST00000398640 R899W PCDHA11_ENST00000398640 T661M PCDHA12 A851V PCDHA12 D940E PCDHA12 E271K PCDHA12 G908S PCDHA12 R891W PCDHA12 V624M PCDHA13 A488T PCDHA13 A860V PCDHA13 D376Y PCDHA13 D949E PCDHA13 G917S PCDHA13 R900W PCDHA13 T662M PCDHA13 V35I PCDHA13 V418I PCDHA1_ENST00000504120 A519T PCDHA1_ENST00000504120 A860V PCDHA1_ENST00000504120 D949E PCDHA1_ENST00000504120 G917S PCDHA1_ENST00000504120 P206Q PCDHA1_ENST00000504120 R755W PCDHA1_ENST00000504120 R900W PCDHA1_ENST00000504120 T633M PCDHA2 A562T PCDHA2 A67V PCDHA2 A706V PCDHA2 E190K PCDHA2 R415H PCDHA2 R428W PCDHA2 R65W PCDHA2 V441M PCDHA2 V745M PCDHA2_ENST00000526136 A562T PCDHA2_ENST00000526136 A67V PCDHA2_ENST00000526136 A706V PCDHA2_ENST00000526136 A858V PCDHA2_ENST00000526136 D947E PCDHA2_ENST00000526136 E190K PCDHA2_ENST00000526136 G915S PCDHA2_ENST00000526136 R415H PCDHA2_ENST00000526136 R428W PCDHA2_ENST00000526136 R65W PCDHA2_ENST00000526136 R898W PCDHA2_ENST00000526136 V441M PCDHA2_ENST00000526136 V745M PCDHA3 A266T PCDHA3 A488T PCDHA3 G97R PCDHA3 R619C PCDHA3 V264I PCDHA3 V35I PCDHA3 V448M PCDHA3_ENST00000522353 A266T PCDHA3_ENST00000522353 A488T PCDHA3_ENST00000522353 A860V PCDHA3_ENST00000522353 D949E PCDHA3_ENST00000522353 G917S PCDHA3_ENST00000522353 G97R PCDHA3_ENST00000522353 R619C PCDHA3_ENST00000522353 R900W PCDHA3_ENST00000522353 V264I PCDHA3_ENST00000522353 V35I PCDHA3_ENST00000522353 V448M PCDHA4 A266T PCDHA4 E558K PCDHA4 N28S PCDHA4 S286L PCDHA4_ENST00000530339 A266T PCDHA4_ENST00000530339 A857V PCDHA4_ENST00000530339 D946E PCDHA4_ENST00000530339 E558K PCDHA4_ENST00000530339 G914S PCDHA4_ENST00000530339 N28S PCDHA4_ENST00000530339 R897W PCDHA5 A156V PCDHA5 A536T PCDHA5 A702T PCDHA5 A719T PCDHA5 E220K PCDHA5 H588N PCDHA5 R497Q PCDHA5 R88Q PCDHA5 S600L PCDHA5 V397A PCDHA5 V417M PCDHA5 V463M PCDHA5_ENST00000529859 A156V PCDHA5_ENST00000529859 A536T PCDHA5_ENST00000529859 A702T PCDHA5_ENST00000529859 A719T PCDHA5_ENST00000529859 A846V PCDHA5_ENST00000529859 D935E PCDHA5_ENST00000529859 G903S PCDHA5_ENST00000529859 H588N PCDHA5_ENST00000529859 R497Q PCDHA5_ENST00000529859 R886W PCDHA5_ENST00000529859 R88Q PCDHA5_ENST00000529859 S600L PCDHA5_ENST00000529859 V397A PCDHA5_ENST00000529859 V417M PCDHA5_ENST00000529859 V463M PCDHA6 D111E PCDHA6 E526K PCDHA6 K197N PCDHA6 V542M PCDHA6_ENST00000529310 A860V PCDHA6_ENST00000529310 D111E PCDHA6_ENST00000529310 D949E PCDHA6_ENST00000529310 E526K PCDHA6_ENST00000529310 G917S PCDHA6_ENST00000529310 K197N PCDHA6_ENST00000529310 R900W PCDHA6_ENST00000529310 V542M PCDHA7 A452T PCDHA7 P613L PCDHA7 R71H PCDHA7_ENST00000525929 A452T PCDHA7_ENST00000525929 A847V PCDHA7_ENST00000525929 D936E PCDHA7_ENST00000525929 G904S PCDHA7_ENST00000525929 P613L PCDHA7_ENST00000525929 R71H PCDHA7_ENST00000525929 R887W PCDHA8 A605V PCDHA8 E243K PCDHA8 G97R PCDHA8 K579E PCDHA8 P130A PCDHA8 V464M PCDHA8_ENST00000531613 A605V PCDHA8_ENST00000531613 A860V PCDHA8_ENST00000531613 D949E PCDHA8_ENST00000531613 E243K PCDHA8_ENST00000531613 G917S PCDHA8_ENST00000531613 G97R PCDHA8_ENST00000531613 K579E PCDHA8_ENST00000531613 P130A PCDHA8_ENST00000531613 R900W PCDHA8_ENST00000531613 S608L PCDHA8_ENST00000531613 V464M PCDHA9 L409M PCDHA9 R635H PCDHA9 R722W PCDHA9 S668L PCDHA9 T662M PCDHA9_ENST00000532602 A860V PCDHA9_ENST00000532602 D949E PCDHA9_ENST00000532602 G917S PCDHA9_ENST00000532602 L409M PCDHA9_ENST00000532602 R635H PCDHA9_ENST00000532602 R722W PCDHA9_ENST00000532602 R900W PCDHA9_ENST00000532602 T662M PCDHAC1 A873V PCDHAC1 D962E PCDHAC1 G930S PCDHAC1 R913W PCDHAC1 S52L PCDHAC2 A736V PCDHAC2 A917V PCDHAC2 D1006E PCDHAC2 G974S PCDHAC2 R733C PCDHAC2 R957W PCDHB1 A516T PCDHB1 N568K PCDHB1 R453Q PCDHB1 R773H PCDHB11 G532S PCDHB12 A26V PCDHB12 P564L PCDHB12 R62W PCDHB12 R65Q PCDHB12 V392M PCDHB13 A361V PCDHB13 E311K PCDHB13 G730C PCDHB13 P221L PCDHB13 V688I PCDHB14 V688I PCDHB15 E522G PCDHB15 S314L PCDHB15 T508M PCDHB16 R712W PCDHB16 S543R PCDHB18 E596G PCDHB2 T227M PCDHB3 E358D PCDHB3 E784K PCDHB3 F459L PCDHB3 F459S PCDHB3 F774V PCDHB4 A447T PCDHB4 A544V PCDHB4 R182Q PCDHB5 A64T PCDHB5 D51Y PCDHB5 P143Q PCDHB5 R789W PCDHB6 G530S PCDHB6 L743V PCDHB6 V238I PCDHB6 V263I PCDHB7 A305V PCDHB7 A484T PCDHB7 S543R PCDHB7 S79L PCDHB7 T318N PCDHB7 V228M PCDHB8 D235N PCDHB8 E311K PCDHB8 R180W PCDHB8 R184H PCDHB8 V334I PCDHB8 V474I PCDHGA1 A696V PCDHGA1 E463K PCDHGA1 K393E PCDHGA1 P101K PCDHGA10 A633V PCDHGA10 A91T PCDHGA10 V899A PCDHGA11 G259R PCDHGA11 N130Y PCDHGA11 V659I PCDHGA11 V898A PCDHGA12 A130V PCDHGA12 A534V PCDHGA12 A637V PCDHGA12 D128G PCDHGA12 V895A PCDHGA12_ENST00000252085 A130V PCDHGA12_ENST00000252085 A534V PCDHGA12_ENST00000252085 A637V PCDHGA12_ENST00000252085 D128G PCDHGA12_ENST00000252085 V895A PCDHGA1_ENST00000517417 A696V PCDHGA1_ENST00000517417 E463K PCDHGA1_ENST00000517417 K393E PCDHGA1_ENST00000517417 P101K PCDHGA1_ENST00000517417 V894A PCDHGA2 C96F PCDHGA2 K12N PCDHGA2 L642I PCDHGA2 P560T PCDHGA2 P565S PCDHGA2 T475M PCDHGA3_ENST00000253812 A559T PCDHGA3_ENST00000253812 N169K PCDHGA3_ENST00000253812 V505I PCDHGA3_ENST00000253812 V552L PCDHGA3_ENST00000253812 V703I PCDHGA3_ENST00000253812 V895A PCDHGA4 V894A PCDHGA4_ENST00000571252 V894A PCDHGA5 S289L PCDHGA5 V894A PCDHGA5_ENST00000518069 G377E PCDHGA5_ENST00000518069 S289L PCDHGA5_ENST00000518069 T72M PCDHGA5_ENST00000518069 V894A PCDHGA6_ENST00000517434 V895A PCDHGA7 F133L PCDHGA7 R151Q PCDHGA7 R718H PCDHGA7 V552M PCDHGA7 V662M PCDHGA7 V895A PCDHGA8 G599V PCDHGA8 R627H PCDHGA8 S336L PCDHGA8 V895A PCDHGA9 V895A PCDHGA9_ENST00000573521 V895A PCDHGB1 V890A PCDHGB1_ENST00000523390 V890A PCDHGB2 V894A PCDHGB2_ENST00000522605 R679P PCDHGB2_ENST00000522605 S435G PCDHGB2_ENST00000522605 V894A PCDHGB3 V892A PCDHGB3_ENST00000576222 V892A PCDHGB4 A327V PCDHGB4 D664N PCDHGB4 R620C PCDHGB4 V703M PCDHGB4 V886A PCDHGB6 A476T PCDHGB6 A70T PCDHGB6 G218R PCDHGB6 I394M PCDHGB6 R372W PCDHGB6 V893A PCDHGB7 R555C PCDHGB7 V420I PCDHGB7 V892A PCDHGC3 V897A PCDHGC3_ENST00000308177 V897A PCDHGC4 P452A PCDHGC4 R717C PCDHGC4 V901A PCDHGC5 T659P PCDHGC5 V907A PCDHGC5_ENST00000252087 T659P PCDHGC5_ENST00000252087 V907A PCDHG_cluster C96F PCDHG_cluster K12N PCDHG_cluster L642I PCDHG_cluster P560T PCDHG_cluster P565S PCDHG_cluster T475M PCDHG_cluster V895A PCGF2 E116K PCGF2 R64W PCGF6 R293G PCK1 A464V PCLO A4321T PCLO E2925D PCLO K4202N PCLO L1380R PCLO Q3918H PCLO S3608Y PCLO S496P PCLO_ENST00000333891 E2925D PCLO_ENST00000333891 E5018G PCLO_ENST00000333891 K4202N PCLO_ENST00000333891 L1107F PCLO_ENST00000333891 L1380R PCLO_ENST00000333891 L473R PCLO_ENST00000333891 Q3918H PCLO_ENST00000333891 S2556F PCLO_ENST00000333891 S3608Y PCLO_ENST00000333891 S496P PCMT1 D84V PCMT1_ENST00000464889 D142V PCMTD1 L295F PCMTD1 L343F PCMTD1 P274R PCMTD1 P342L PCMTD1 R162Q PCMTD1 R200Q PCMTD1 R253H PCMTD1 R271M PCMTD2 Q221H PCMTD2 R200H PCNA I88T PCNT A62T PCNT D848Y PCNT G2273R PCNT R208C PCNT S162G PCNX R1065C PCNX R377W PCNX R676Q PCNXL2 G232V PCNXL2 R135Q PCNXL2 R1984Q PCNXL2 R298Q PCNXL2 S1035L PCOLCE2 A348V PCOLCE2 M123I PCOLCE2 R87H PCOLCE2 S164P PCSK1 E106G PCSK1 R438Q PCSK1 R669Q PCSK2 D424N PCSK2 R419W PCSK2 T285M PCSK2 T340A PCSK5 E562G PCSK5 H652N PCSK5 R111Q PCSK5 R215H PCSK5_ENST00000376767 E562G PCSK5_ENST00000376767 R111Q PCSK5_ENST00000376767 R215H PCSK5_ENST00000545128 C1617R PCSK5_ENST00000545128 E562G PCSK5_ENST00000545128 H652N PCSK9 P404L PCSK9 R251C PCSK9 W461C PCTP Y100H PCYT1A A217V PCYT1B D82N PCYT1B R211C PCYT1B_ENST00000356768 D82N PCYT1B_ENST00000379145 D64N PDCD1 P89T PDCD1 V110M PDCD11 R1779L PDCD11 R1779W PDCD11 R826C PDCD5 E85D PDCD5 E85G PDCD5 E85K PDCD5 R55G PDCD8 D91G PDCD8 K593N PDCD8 K593R PDE10A M659I PDE11A A341V PDE12 K609N PDE12 P218L PDE12 R65C PDE1A R119W PDE1A R408W PDE1A R94W PDE1A_ENST00000410103 R119W PDE1A_ENST00000410103 R408W PDE1A_ENST00000410103 R94W PDE1B V478M PDE1C E271Q PDE1C R146Q PDE1C S497Y PDE1C T421P PDE1C_ENST00000396191 E271Q PDE1C_ENST00000396191 R146Q PDE1C_ENST00000396191 S497Y PDE1C_ENST00000396191 T421P PDE2A A867V PDE2A T224I PDE3A E352K PDE3A V349I PDE4B R669S PDE4B S417L PDE4B_ENST00000371045 R497S PDE4B_ENST00000371045 S245L PDE4B_ENST00000423207 R654S PDE4B_ENST00000423207 S402L PDE4C L457P PDE4C T561M PDE4D T499M PDE4DIP C1297R PDE4DIP E2223G PDE4DIP L1303P PDE4DIP R1226H PDE4DIP_ENST00000369348 P30S PDE4DIP_ENST00000369356 C1297R PDE4DIP_ENST00000369356 R1226H PDE4D_ENST00000340635 T635M PDE4D_ENST00000405755 T513M PDE4D_ENST00000502484 R31H PDE4D_ENST00000507116 T571M PDE5A K130N PDE5A R577W PDE6C L13V PDE6G E58Q PDE8B H688Y PDE8B R436C PDE9A E395K PDE9A G113C PDE9A R187H PDGFB R200Q PDGFB_ENST00000331163 R200Q PDGFB_ENST00000381551 R185Q PDGFC D198N PDGFC V109A PDGFC V163A PDGFD A207V PDGFD A28T PDGFD D202G PDGFD_ENST00000393158 A207V PDGFD_ENST00000393158 A28T PDGFD_ENST00000393158 D202G PDGFRA A210V PDGFRA C235Y PDGFRA D1071N PDGFRA D842I PDGFRA D842V PDGFRA D842Y PDGFRA D846Y PDGFRA F238L PDGFRA F808L PDGFRA K646E PDGFRA L819M PDGFRA N659K PDGFRA N659Y PDGFRA N848K PDGFRA N848S PDGFRA N870S PDGFRA P130H PDGFRA P581S PDGFRA P937L PDGFRA R822S PDGFRA S19I PDGFRA T674A PDGFRA T674I PDGFRA T873N PDGFRA V536E PDGFRA V561A PDGFRA V561D PDGFRA V824L PDGFRA W349C PDGFRA Y555C PDGFRA Y59C PDGFRA Y849C PDGFRA Y849S PDGFRB V84M PDHA1 L24P PDHA1_ENST00000379806 L62P PDHA2 L127R PDHA2 R376C PDHB N316T PDILT V561E PDK1 C421R PDK2 R74Q PDLIM3 R147C PDLIM5 D48Y PDLIM5_ENST00000380180 D48Y PDP2 E323G PDP2 R458K PDP2 R473W PDPK1 V12M PDPN E157K PDPN P104L PDPR R448H PDPR R791Q PDRG1 Q48R PDRG1 R92Q PDS5A S1232N PDS5B L999F PDS5B R289H PDSS2 V223A PDXDC1 E421K PDYN A141E PDYN G191W PDYN R174C PDYN R174H PDYN R180C PDYN R180H PDYN R215H PDYN R232H PDZD2 A210V PDZD2 E2402K PDZD2 R524W PDZD2 R774H PDZD2 T1911A PDZD2 V1896I PDZD4 R654W PDZD8 A759V PDZD8 L817F PDZD8 M1091V PDZK1 D373V PDZRN3 E1019K PDZRN3 S790C PDZRN4 D294G PDZRN4 E251D PDZRN4 R649Q PEAR1 R551C PEBP4 D98G PEG3 D1460G PEG3 E1405D PEG3 K413E PEG3 P240L PEG3 R107Q PEG3 R1548H PEG3 R393L PEG3 R504H PEG3 R604H PEG3 R675H PEG3 W165L PELI2 R281Q PELP1 S747L PENK E258G PENK R229W PER1 N985S PER1 R450C PER2 A1049T PER3 K998E PER3 R695Q PER3 T566A PEX1 R135L PEX10 V74I PEX12 K42N PEX12 R180Q PEX2 K136R PEX5L G521R PEX5L R543Q PEX6 R969Q PEX7 H284Y PF4V1 A66G PFAS D881Y PFAS P133L PFAS R760Q PFDN5 L12R PFKFB3 K67T PFKFB3_ENST00000379785 K67T PFKM I691M PFKP Q153K PFKP_ENST00000381075 Q145K PFN4 I24M PFN4 S2G PGA4_ENST00000422676 G263R PGA4_ENST00000422676 I266T PGA5_ENST00000312403 G263R PGA5_ENST00000312403 I266T PGAM1 R240H PGAM4 C240R PGAP1 F565C PGAP1 K638E PGAP2 F62L PGAP2 R171H PGAP3 R200W PGAP3 V296I PGBD1 R239W PGBD3 D415G PGBD4 I361F PGBD5 T195M PGBD5 V471M PGCP G10C PGF R127H PGK2 A102S PGLYRP2 M270K PGLYRP2 P241S PGLYRP2 R99Q PGLYRP2_ENST00000292609 M270K PGLYRP2_ENST00000292609 P241S PGLYRP2_ENST00000292609 R99Q PGLYRP3 A119T PGLYRP3 A293V PGM3 K112I PGM3 L157F PGM5 I193T PGM5 I98V PGM5 R410Q PGPEP1L V95M PGR R623H PGR R740Q PGRMC1 D141N PHACTR2_ENST00000440869 P164R PHACTR3 R335W PHACTR3 R49H PHACTR3 R73S PHC1 H199Y PHC1 R867H PHC1 S613P PHC1 V250L PHC2 A693V PHC2 Q119K PHC2 R761P PHC2 V57M PHEX Q383R PHF10 E104K PHF10 Y111D PHF10_ENST00000339209 E192K PHF14 L654P PHF16 A309S PHF2 P700L PHF2 T520M PHF20L1_ENST00000395386 R739H PHF21B A280T PHF21B A66V PHF21B R471H PHF3 D5G PHF3 D5Y PHF3 N99D PHF3 N99S PHF3 R1410I PHF6 C215F PHF6 C215Y PHF6 C242Y PHF6 G287V PHF6 H329R PHF6 M1K PHF6_ENST00000332070 M1K PHF8 D671H PHF8 R66C PHF8 R773H PHF8 V427I PHF8_ENST00000322659 R66C PHF8_ENST00000322659 R756H PHIP A705T PHIP D246G PHIP E1582G PHIP P1344L PHIP V469I PHKB A601V PHKB_ENST00000299167 A594V PHKB_ENST00000323584 A451T PHKB_ENST00000323584 A601V PHLDA1 Q190H PHLDA1 R392W PHLDB1 A241T PHLDB1 R328P PHLDB1 S44I PHLDB2 E228G PHLDB2 E707K PHLDB2 R934H PHLDB2_ENST00000393923 E255G PHLDB2_ENST00000431670 E228G PHLDB2_ENST00000431670 R977H PHLDB3 D227Y PHLPP M737T PHOX2B D136N PHTF1 F492L PHYH R82W PHYHIP A240V PHYHIPL Y272C PI15 A179T PI15 C245R PI15 C245S PI15 F257Y PI15 S9R PI16 V284I PI3 T17M PI4K2A V298M PI4K2B R305G PI4KAP2 I530L PIAS1 R245L PIAS1 V241L PIAS2 S519L PIBF1 K148E PIBF1 N416S PIEZO1 A2268V PIF1_ENST00000268043 D317E PIGC P25H PIGC P25S PIGG I873T PIGH L77F PIGK S278G PIGN I77V PIGO R1035C PIGQ C592R PIGQ V35F PIGR A580T PIGS D242G PIGS M159I PIGU S23R PIK3AP1 G618S PIK3C2A A916T PIK3C2A F1206L PIK3C2A F1206S PIK3C2A L1258R PIK3C2A M1183I PIK3C2A M1183V PIK3C2A N359S PIK3C2B E1144K PIK3C2B R1113H PIK3C2B R41G PIK3C2G D346N PIK3C2G L722S PIK3C2G N1014S PIK3C2G T7M PIK3C2G_ENST00000433979 N1014S PIK3C3 E711D PIK3C3 L330F PIK3C3 M187I PIK3C3 M187V PIK3C3 S699G PIK3CA A1020V PIK3CA A1035T PIK3CA A1035V PIK3CA A1046E PIK3CA A1046T PIK3CA A1046V PIK3CA A1066V PIK3CA A341V PIK3CA C378R PIK3CA C420R PIK3CA C604R PIK3CA C901F PIK3CA D1017G PIK3CA D1017H PIK3CA D1018N PIK3CA D1029H PIK3CA D1045N PIK3CA D1056N PIK3CA D350G PIK3CA D538N PIK3CA D549H PIK3CA D549N PIK3CA D939G PIK3CA E1012G PIK3CA E1012K PIK3CA E1034G PIK3CA E1037G PIK3CA E1037K PIK3CA E110K PIK3CA E365K PIK3CA E39K PIK3CA E418G PIK3CA E418K PIK3CA E453K PIK3CA E453Q PIK3CA E522K PIK3CA E525K PIK3CA E542A PIK3CA E542G PIK3CA E542K PIK3CA E542Q PIK3CA E542V PIK3CA E545A PIK3CA E545D PIK3CA E545G PIK3CA E545K PIK3CA E545Q PIK3CA E545V PIK3CA E547G PIK3CA E547K PIK3CA E726G PIK3CA E726K PIK3CA E81K PIK3CA E970K PIK3CA E982G PIK3CA F1016L PIK3CA F1039L PIK3CA F667L PIK3CA F667S PIK3CA F909L PIK3CA G1007D PIK3CA G1007R PIK3CA G1009E PIK3CA G1049A PIK3CA G1049D PIK3CA G1049R PIK3CA G1049S PIK3CA G1050D PIK3CA G1050S PIK3CA G106R PIK3CA G106V PIK3CA G118D PIK3CA G122D PIK3CA G12D PIK3CA G364R PIK3CA H1047L PIK3CA H1047Q PIK3CA H1047R PIK3CA H1047Y PIK3CA H1048R PIK3CA H1060R PIK3CA H1065L PIK3CA H510N PIK3CA H510Y PIK3CA H701P PIK3CA H701R PIK3CA I1019V PIK3CA I1058F PIK3CA I1062V PIK3CA I311T PIK3CA I311V PIK3CA I31M PIK3CA I543V PIK3CA K1024R PIK3CA K111E PIK3CA K111N PIK3CA K111R PIK3CA K179R PIK3CA K567R PIK3CA K594E PIK3CA K733R PIK3CA K986E PIK3CA K986N PIK3CA K986R PIK3CA L1001I PIK3CA L1036S PIK3CA L531P PIK3CA L866S PIK3CA L989I PIK3CA M1004I PIK3CA M1040I PIK3CA M1040T PIK3CA M1043I PIK3CA M1043T PIK3CA M1043V PIK3CA N1044D PIK3CA N1044K PIK3CA N1044S PIK3CA N1044Y PIK3CA N345D PIK3CA N345I PIK3CA N345K PIK3CA N345S PIK3CA N457D PIK3CA N457S PIK3CA N521D PIK3CA N521S PIK3CA P1011L PIK3CA P1011S PIK3CA P104L PIK3CA P124L PIK3CA P134S PIK3CA P449T PIK3CA P471A PIK3CA P471L PIK3CA P539R PIK3CA P539S PIK3CA Q530R PIK3CA Q546E PIK3CA Q546H PIK3CA Q546K PIK3CA Q546L PIK3CA Q546P PIK3CA Q546R PIK3CA Q661K PIK3CA R1023L PIK3CA R1023Q PIK3CA R108H PIK3CA R115L PIK3CA R310C PIK3CA R38C PIK3CA R38H PIK3CA R88Q PIK3CA R93Q PIK3CA R93W PIK3CA S1003P PIK3CA S1008F PIK3CA S1008P PIK3CA S1015F PIK3CA S1015P PIK3CA S405P PIK3CA T1025A PIK3CA T1025I PIK3CA T1025N PIK3CA T1025S PIK3CA T1052A PIK3CA T1052I PIK3CA T1052K PIK3CA T324I PIK3CA T544N PIK3CA V344A PIK3CA V344G PIK3CA V344M PIK3CA V638A PIK3CA W1057R PIK3CA W552G PIK3CA Y1021C PIK3CA Y1021H PIK3CA Y1021N PIK3CA_ENST00000263967 C378R PIK3CA_ENST00000263967 C420R PIK3CA_ENST00000263967 C604R PIK3CA_ENST00000263967 C901F PIK3CA_ENST00000263967 D1017G PIK3CA_ENST00000263967 D1018N PIK3CA_ENST00000263967 D350G PIK3CA_ENST00000263967 D939G PIK3CA_ENST00000263967 E1012G PIK3CA_ENST00000263967 E365K PIK3CA_ENST00000263967 E418G PIK3CA_ENST00000263967 E453Q PIK3CA_ENST00000263967 E542A PIK3CA_ENST00000263967 E542K PIK3CA_ENST00000263967 E542Q PIK3CA_ENST00000263967 E545A PIK3CA_ENST00000263967 E545D PIK3CA_ENST00000263967 E545G PIK3CA_ENST00000263967 E545K PIK3CA_ENST00000263967 E545Q PIK3CA_ENST00000263967 E547G PIK3CA_ENST00000263967 E726G PIK3CA_ENST00000263967 E726K PIK3CA_ENST00000263967 E81K PIK3CA_ENST00000263967 E970K PIK3CA_ENST00000263967 E982G PIK3CA_ENST00000263967 F1039L PIK3CA_ENST00000263967 F667S PIK3CA_ENST00000263967 F909L PIK3CA_ENST00000263967 G1007R PIK3CA_ENST00000263967 G1049D PIK3CA_ENST00000263967 G1049R PIK3CA_ENST00000263967 G1049S PIK3CA_ENST00000263967 G1050S PIK3CA_ENST00000263967 G118D PIK3CA_ENST00000263967 H1047L PIK3CA_ENST00000263967 H1047R PIK3CA_ENST00000263967 H1047Y PIK3CA_ENST00000263967 H1048R PIK3CA_ENST00000263967 H1060R PIK3CA_ENST00000263967 H510N PIK3CA_ENST00000263967 H510Y PIK3CA_ENST00000263967 H701R PIK3CA_ENST00000263967 I311T PIK3CA_ENST00000263967 K1024R PIK3CA_ENST00000263967 K111E PIK3CA_ENST00000263967 K111N PIK3CA_ENST00000263967 K179R PIK3CA_ENST00000263967 K594E PIK3CA_ENST00000263967 K733R PIK3CA_ENST00000263967 K986E PIK3CA_ENST00000263967 K986R PIK3CA_ENST00000263967 L531P PIK3CA_ENST00000263967 L866S PIK3CA_ENST00000263967 M1004I PIK3CA_ENST00000263967 M1043I PIK3CA_ENST00000263967 M1043T PIK3CA_ENST00000263967 M1043V PIK3CA_ENST00000263967 N1044K PIK3CA_ENST00000263967 N1044S PIK3CA_ENST00000263967 N1044Y PIK3CA_ENST00000263967 N345I PIK3CA_ENST00000263967 N345K PIK3CA_ENST00000263967 N457D PIK3CA_ENST00000263967 N457S PIK3CA_ENST00000263967 N521D PIK3CA_ENST00000263967 P471L PIK3CA_ENST00000263967 Q530R PIK3CA_ENST00000263967 Q546K PIK3CA_ENST00000263967 Q546P PIK3CA_ENST00000263967 Q546R PIK3CA_ENST00000263967 R108H PIK3CA_ENST00000263967 R115L PIK3CA_ENST00000263967 R38C PIK3CA_ENST00000263967 R38H PIK3CA_ENST00000263967 R88Q PIK3CA_ENST00000263967 R93Q PIK3CA_ENST00000263967 R93W PIK3CA_ENST00000263967 S1008P PIK3CA_ENST00000263967 S1015P PIK3CA_ENST00000263967 S405P PIK3CA_ENST00000263967 T1025A PIK3CA_ENST00000263967 V344A PIK3CA_ENST00000263967 V344G PIK3CA_ENST00000263967 V344M PIK3CA_ENST00000263967 Y1021C PIK3CA_ENST00000263967 Y1021H PIK3CB E1051K PIK3CB L832W PIK3CD E505K PIK3CD N39S PIK3CD R88C PIK3CG G966W PIK3CG L379I PIK3CG N979S PIK3CG P1004L PIK3CG R18Q PIK3CG T1024K PIK3CG V162I PIK3CG V282L PIK3IP1 V237M PIK3R1 A682V PIK3R1 D464G PIK3R1 D548G PIK3R1 D560G PIK3R1 D560Y PIK3R1 E666K PIK3R1 G376R PIK3R1 K459E PIK3R1 K567E PIK3R1 L570P PIK3R1 L573P PIK3R1 N285H PIK3R1 N285S PIK3R1 N527K PIK3R1 N564D PIK3R1 N564K PIK3R1 R301Q PIK3R1 R503Q PIK3R1 R543G PIK3R1 R543I PIK3R1 R574G PIK3R1 R574I PIK3R1 R574T PIK3R1 R649Q PIK3R1_ENST00000320694 D164G PIK3R1_ENST00000320694 D248G PIK3R1_ENST00000320694 D260G PIK3R1_ENST00000320694 K159E PIK3R1_ENST00000320694 K267E PIK3R1_ENST00000320694 L273P PIK3R1_ENST00000320694 N264K PIK3R1_ENST00000320694 R243G PIK3R1_ENST00000320694 R274G PIK3R1_ENST00000320694 R349Q PIK3R1_ENST00000336483 D194G PIK3R1_ENST00000336483 D278G PIK3R1_ENST00000336483 D290G PIK3R1_ENST00000336483 K189E PIK3R1_ENST00000336483 K297E PIK3R1_ENST00000336483 L303P PIK3R1_ENST00000336483 N294K PIK3R1_ENST00000336483 R273G PIK3R1_ENST00000336483 R304G PIK3R1_ENST00000336483 R379Q PIK3R2 G373R PIK3R3 L326R PIK3R4 E1094G PIK3R4 E1209K PIK3R4 I1255V PIK3R4 Q538H PIK3R4 R1189H PIK3R4 R846G PIK3R4 R936Q PIK3R5 R28C PIK3R5 R455W PIK3R5 R498H PIKFYVE E1697K PIKFYVE P964L PIKFYVE R1161I PIKFYVE R758W PILRA S170T PIM1 E79D PIM1 H157P PIM1 L164V PIM1 Q37H PIM1 R214C PIM1 S146R PIM1 S97N PINX1 R211S PINX1 R8W PIP4K2A R133H PIP4K2A R99H PIP4K2C R204H PIP5KL1 E90K PIPOX T185M PISD A200V PISD R129H PISD_ENST00000439502 A234V PITPNC1 L280F PITPNM1 E157G PITPNM2 R298H PITPNM3 T688I PITX1 R93H PIWIL1 F211L PIWIL1 R275Q PIWIL2 V138I PIWIL4 R224W PJA1_ENST00000361478 S107L PJA2 N506S PJA2 S511C PKD1 H2607L PKD1 L2696R PKD1 S2896F PKD1 T938M PKD1L1 E1698G PKD1L1 K1607N PKD1L1 P183S PKD1L1 R1288H PKD1L1 V608A PKD1L1 V670M PKD1L3 A103T PKD2 Q694L PKD2 R496C PKD2 Y486F PKD2L2 E556K PKD2L2 R448Q PKDREJ E867G PKDREJ F1697Y PKDREJ R1085C PKDREJ S925L PKDREJ T1875A PKDREJ T1875I PKHD1 A3123V PKHD1 G1651D PKHD1 H2520R PKHD1 L1096P PKHD1 L4044V PKHD1 N3904S PKHD1 R1624W PKHD1 R3620C PKHD1 T1742M PKHD1 T275A PKHD1 W2383C PKHD1L1 C1884Y PKHD1L1 C3810G PKHD1L1 D3358H PKHD1L1 E2612K PKHD1L1 F1858L PKHD1L1 G3713R PKHD1L1 L3226I PKHD1L1 R1885H PKHD1L1 S837C PKHD1L1 T122M PKHD1L1 T3958A PKHD1L1 V304I PKHD1_ENST00000340994 H2520R PKHD1_ENST00000340994 L1096P PKHD1_ENST00000340994 R1624W PKHD1_ENST00000340994 T275A PKIA G69R PKIA T17A PKLR G251S PKLR R289W PKN1 F873L PKN1 R185C PKN3 P11L PKNOX2 D126N PKP1 R168H PKP1 R340G PKP1_ENST00000263946 R168H PKP1_ENST00000263946 R340G PKP2 D829N PKP4 D252N PKP4 K171R PKP4 R193T PKP4 R286W PKP4 R869Q PKP4 S1164L PLA1A V343L PLA2G15 Y72C PLA2G2C S13L PLA2G3 R403C PLA2G3 S70A PLA2G3_ENST00000215885 S70A PLA2G4A E443K PLA2G4A H442Q PLA2G4C Q121H PLA2G4D R664L PLA2G4F S351R PLA2R1 G615D PLA2R1 R1342Q PLAC1L A48V PLAG1 M361I PLAG1_ENST00000316981 M361I PLAT L346P PLAT V66M PLAUR R159C PLAUR_ENST00000339082 R159C PLB1 P976L PLCB1 A907P PLCB1 P740S PLCB1 Q1013H PLCB1 Q1050R PLCB1 R101C PLCB1 R97H PLCB1_ENST00000378641 Q1013H PLCB1_ENST00000378641 Q1050R PLCB1_ENST00000378641 R97H PLCB2 K1044N PLCB2 K1044R PLCB2_ENST00000260402 K1044N PLCB2_ENST00000260402 K1044R PLCB3 R359H PLCB3 R44C PLCB3 R707W PLCB3 T909P PLCB4 F397S PLCB4 N1192H PLCB4 R586C PLCB4 R918W PLCB4 T898M PLCD1 R60W PLCE1 N912S PLCE1 T1264I PLCE1_ENST00000260766 G2034E PLCE1_ENST00000260766 R1434Q PLCE1_ENST00000260766 R1495Q PLCE1_ENST00000260766 R693H PLCE1_ENST00000371375 R1126Q PLCG1 A995P PLCG1 E289G PLCG1 S489C PLCG1 S489P PLCG1 V108A PLCG2 D754N PLCG2 D973N PLCG2 E544K PLCG2_ENST00000359376 D754N PLCG2_ENST00000359376 D973N PLCG2_ENST00000359376 E544K PLCH1 A67S PLCH1 G332S PLCH2 I273V PLCH2 K605R PLCH2_ENST00000378486 I426V PLCH2_ENST00000378486 K758R PLCL1 A661V PLCL1 R371Q PLCL1 R772W PLCL1 T248I PLCL1_ENST00000428675 A759V PLCL1_ENST00000428675 R870W PLCL1_ENST00000428675 T346I PLCL2 G71E PLCL2 S398P PLCZ1 R584C PLCZ1 R584H PLD1 H608R PLD3 Y216C PLD5 A121T PLD5 I250T PLD5 S231R PLD5 T115M PLD5_ENST00000536534 A213T PLD5_ENST00000536534 I342T PLD5_ENST00000536534 T207M PLEC S2791P PLEC_ENST00000345136 S2654P PLEC_ENST00000436759 S2681P PLEK F224L PLEKHA4 G642E PLEKHA4 P583L PLEKHA5 D803N PLEKHA5_ENST00000429027 D964N PLEKHA7 S485L PLEKHA8P1 A353V PLEKHB1 R90Q PLEKHB2 D74G PLEKHB2 N196K PLEKHB2_ENST00000404460 D74G PLEKHF2 D240G PLEKHF2 D240Y PLEKHF2 K139E PLEKHF2 K139R PLEKHG1 R765W PLEKHG2 L913F PLEKHG2 P442L PLEKHG2_ENST00000409794 L955F PLEKHG2_ENST00000458508 L896F PLEKHG3 R106C PLEKHG4B_ENST00000283426 E384K PLEKHG4B_ENST00000283426 R597H PLEKHH1 G331E PLEKHH1_ENST00000329153 A475T PLEKHH1_ENST00000329153 G292E PLEKHH1_ENST00000329153 R344C PLEKHH3 A653V PLEKHH3 G155S PLEKHM1 R606C PLEKHM3 E624Q PLEKHM3_ENST00000427836 E624Q PLG D177N PLG G195S PLG R242Q PLG R663Q PLG V444I PLIN2 S31L PLIN3 T415M PLIN4 A325G PLIN4 A655V PLIN4 V292M PLIN4 V426L PLIN4 V464I PLIN4 V831M PLIN4_ENST00000301286 V364M PLIN4_ENST00000301286 V536I PLK1 T199I PLK2 G92C PLK2 R446W PLK4 F12C PLOD2 R54Q PLP1 A115T PLP2 P134S PLS1 S4N PLS3 N290S PLSCR1 R224G PLSCR2 V151M PLSCR3_ENST00000324822 E77K PLSCR4 G102V PLSCR5 C196Y PLTP R385H PLUNC A154V PLUNC G136S PLVAP A321V PLVAP R332W PLXDC2 P208L PLXDC2 R493C PLXDC2 T179A PLXNA1 R1105C PLXNA1 R204H PLXNA1 T726P PLXNA2 C832G PLXNA2 E1480K PLXNA2 R1680Q PLXNA3 R1603L PLXNA4 A215T PLXNA4 A396V PLXNA4 A48T PLXNA4 S452R PLXNA4_ENST00000321063 A1102T PLXNA4_ENST00000321063 A215T PLXNA4_ENST00000321063 A48T PLXNA4_ENST00000321063 R1044W PLXNA4_ENST00000321063 S452R PLXNA4_ENST00000321063 T562M PLXNA4_ENST00000321063 V575M PLXNA4_ENST00000359827 A1102T PLXNA4_ENST00000359827 A215T PLXNA4_ENST00000359827 A396V PLXNA4_ENST00000359827 A48T PLXNA4_ENST00000359827 E1113K PLXNA4_ENST00000359827 R1044W PLXNA4_ENST00000359827 R1323W PLXNA4_ENST00000359827 S452R PLXNA4_ENST00000359827 T562M PLXNA4_ENST00000359827 V575M PLXNA4_ENST00000423507 A215T PLXNA4_ENST00000423507 A48T PLXNA4_ENST00000423507 S452R PLXNB1 R430S PLXNB2 E1312K PLXNB2 S1039I PLXNB3 A1464T PLXNB3 K503R PLXNC1 R819C PLXNC1 S462L PLXNC1 T847M PLXND1 A1793T PM20D2 R396W PMM2 D188V PMPCB V286L PMS2 G750C PMS2 V717M PMS2P11 M19V PMS2P11 P21S PNKD R222Q PNLIP I95M PNLIP R354C PNLIPRP1 R335S PNLIPRP3 K431T PNMA1 A210T PNMA3 A249S PNMA3 G211V PNMA3 P342L PNMA3_ENST00000447306 A249S PNMA3_ENST00000447306 G211V PNMA5 L6Q PNO1 R11G PNOC L13V PNPLA1 P432A PNPLA1 R11W PNPLA2 R163H PNPLA7 R401T PNPLA8 F778L PNPLA8 K240R PNPLA8 R187H PNPLA8 R293H PODN N197S PODN R32C PODXL Q282H PODXL Q494R POF1B I546T POFUT2 G285R POFUT2 V190I POFUT2_ENST00000349485 V190I POGZ L235P POGZ_ENST00000491586 L182P POGZ_ENST00000491586 P544S POLA1_ENST00000379059 D62G POLA1_ENST00000379059 P131L POLD1 S699T POLD3 K382R POLD3_ENST00000263681 K382R POLDIP3 R84Q POLDIP3_ENST00000339677 R84Q POLE D1165Y POLE D1516E POLE E719V POLE P286R POLE V1394A POLE3 R61W POLE_ENST00000320574 D1165Y POLE_ENST00000320574 E719V POLE_ENST00000320574 L424V POLE_ENST00000320574 P286R POLE_ENST00000320574 V1394A POLG2 M314I POLH G153D POLH R377C POLI D306G POLI K271E POLI_ENST00000217800 D15G POLI_ENST00000217800 D331G POLK M364T POLK_ENST00000241436 M364T POLM R175H POLQ I1594M POLQ R333H POLQ R995Q POLR1A G1703R POLR1A R1151H POLR1A R565C POLR1B L619P POLR1C V89G POLR1C_ENST00000304004 V89G POLR2A_ENST00000412468 H214R POLR2A_ENST00000412468 V305A POLR2J3 Q67H POLR3A P412S POLR3A T62M POLR3B L368F POLR3B L372F POLR3B R361Q POLR3B R550Q POLR3B V191M POLR3C R504H POM121 G767S POM121 H639P POM121 S367N POM121 T857A POM121L12 A270V POM121L12 P212H POM121L12 R159H POM121L12 S189R POM121L12 W151C POM121L2 P495T POM121_ENST00000395270 H639P POM121_ENST00000395270 T857A POMGNT1 H358Y POMGNT1 V101I POMGNT1_ENST00000371992 A661V POMGNT1_ENST00000371992 H358Y POMGNT1_ENST00000371992 V101I POMT1 S602L PON1 D231N PON1 L187R PON3 L205P PON3 R305H POP1 G669V POPDC3 M268I POSTN G543E POSTN L192S POSTN R508C POSTN T323M POT1 T12I POT1 Y223C POT1 Y36N POT1_ENST00000357628 M1L POT1_ENST00000357628 T12I POTE2_HUMAN A82T POTEA A135D POTEA K399N POTEB C221R POTEC D156G POTEC D156Y POTEC E130K POTEC K507E POTEC L311P POTEC L336I POTEC M129I POTEC M43V POTEC R477Q POTED C221R POTED P70S POTEF D124N POTEF E807K POTEF K674N POTEF R66C POTEF R737H POTEF R816H POTEG K97N POTEG L379S POTEH C139Y POTEH W71C POTEM V308A POTEM_ENST00000551509 V308A POU1F1 C171R POU1F1 R217Q POU1F1_ENST00000344265 C197R POU3F2 L316K POU3F3 S356P POU3F4 A305V POU3F4 R279C POU4F2 E361K POU4F2 R349H POU4F2 R369Q POU4F2 R390C POU4F2 V120I POU6F1 E266K POU6F1 V93M POU6F2 A508S POU6F2 V109M PPA1 D153N PPA2 G143D PPAN E216V PPAN L312V PPAN R119P PPAN-P2RY11 E216V PPAN-P2RY11 L312V PPAN-P2RY11 R119P PPAN-P2RY11 V486D PPAP2C A201V PPAP2C_ENST00000269812 A180V PPAPDC1A S176R PPARA K358R PPARD D344H PPARD H287Y PPARGC1A G348R PPARGC1A R282C PPARGC1A R797H PPARGC1A S759P PPARGC1B A91S PPARGC1B Q678L PPARGC1B R387H PPBP V92I PPEF1 I310M PPEF2 K259R PPFIA1 R137Q PPFIA2 H252N PPFIA2 K843E PPFIA2 R255H PPFIA2 R889W PPFIA3 E149D PPFIA4 D1216N PPFIA4 R856W PPFIA4 T779M PPFIA4_ENST00000272198 T148M PPFIBP1 D233G PPFIBP1_ENST00000318304 D264G PPFIBP2 L681F PPHLN1 E251A PPHLN1_ENST00000395568 E251A PPIAL4G A128V PPIG S527G PPL A892V PPL R505W PPM1D W154R PPM1E P660S PPM1E R311Q PPM1E S233L PPM1E S45P PPM1H R477C PPM1L D25Y PPM1L_ENST00000498165 D204Y PPP1CA R143H PPP1CA_ENST00000312989 R154H PPP1CA_ENST00000451458 R240H PPP1R10 E445K PPP1R10 L407P PPP1R12A Q767H PPP1R12A R428G PPP1R12A T646A PPP1R12B L588F PPP1R12B M775V PPP1R12B R279Q PPP1R12B R476Q PPP1R12B S434P PPP1R13B A558V PPP1R16B A438V PPP1R16B D443V PPP1R16B E264G PPP1R16B V70M PPP1R21 Q617L PPP1R3A A571T PPP1R3A D306G PPP1R3A D306Y PPP1R3A G413R PPP1R3A G554A PPP1R3A L1086R PPP1R3A L156F PPP1R3A L427I PPP1R3A R486Q PPP1R3A S494L PPP1R3A S87G PPP1R3A T948M PPP1R3A V1102A PPP1R3B M243V PPP1R3D A227T PPP1R7 S177G PPP1R9A A85S PPP1R9A P452S PPP1R9A R1280Q PPP1R9A R895C PPP1R9A_ENST00000433360 R1332Q PPP1R9A_ENST00000433360 R917C PPP2CA R206H PPP2R1A E64D PPP2R1A E64G PPP2R1A P179L PPP2R1A P179R PPP2R1A R182W PPP2R1A R183G PPP2R1A R183Q PPP2R1A R183W PPP2R1A R258H PPP2R1A S256F PPP2R1A S256Y PPP2R1A W257C PPP2R1A W257G PPP2R2B P271L PPP2R2B V398G PPP2R2B_ENST00000394409 P326L PPP2R2B_ENST00000394409 V453G PPP2R2B_ENST00000394413 V395G PPP2R2B_ENST00000508545 V384G PPP2R2D_ENST00000455566 R144Q PPP2R3A S723R PPP2R4 R134W PPP2R4 R41H PPP2R5B R241W PPP2R5C S259Y PPP2R5D G267S PPP2R5D R264H PPP4C L110Q PPP4R4 R548Q PPP4R4 T89M PPP6C H114Y PPP6C P259S PPP6C R264C PPP6C S270L PPP6C_ENST00000451402 R301C PPP6C_ENST00000451402 S307L PPP6R1_ENST00000412770 R616H PPP6R2 A805V PPP6R3 Y331C PPP6R3_ENST00000393801 R344W PPP6R3_ENST00000393801 Y382C PPPDE1 T151S PPRC1 R1400Q PPT2 F244L PPWD1 R85C PPWD1 T366A PQLC2 G173D PRADC1 R110W PRAM1 A177T PRAM1 A268T PRAM1 P97L PRAME R207H PRAME W7R PRAMEF1 P456L PRAMEF1 T53M PRAMEF11 C351S PRAMEF11 C84S PRAMEF11 H82R PRAMEF11 N341H PRAMEF12 E344G PRAMEF12 P139L PRAMEF14 S354N PRAMEF2 C138R PRAMEF2 T260S PRAMEF20 R47G PRAMEF4 M3I PRAMEF4 R248H PRAMEF6 K132T PRAMEF7 R319H PRB1 K117R PRB1 K67R PRB2 P267A PRB2 P60A PRB2 R153L PRB2_ENST00000389362 P288A PRB2_ENST00000389362 P81A PRB2_ENST00000389362 R174L PRB3 R137H PRB3 R200H PRB4 P50T PRB4 R40P PRDM1 P48Q PRDM10 R804Q PRDM10 S663L PRDM10 T1042M PRDM11 R450C PRDM11 V50L PRDM13 G54E PRDM14 C353F PRDM14 R505H PRDM14 S473P PRDM14 V328A PRDM14 V328I PRDM15 R1043C PRDM16 A1163T PRDM16 M468I PRDM16 N161D PRDM16 R173H PRDM2 A1475T PRDM2 E278D PRDM2 E282D PRDM2 R1683H PRDM2 V1168M PRDM5 E603K PRDM5 R509W PRDM6 G333R PRDM6 G540R PRDM7_ENST00000449207 M387L PRDM9 D759N PRDM9 E455D PRDM9 G307E PRDM9 G586V PRDM9 N843D PRDM9 P11T PRDM9 R113H PRDM9 R619W PRDM9 R657T PRDM9 R765S PRDM9 R786S PRDM9 S793R PRDM9 T597S PRDM9 T601R PRDM9 T827A PRDM9 Y276F PRELP P237S PREP R662H PREX1 E1246K PREX1 G215S PREX1 R1604W PREX1 R432Q PREX1 R78H PREX1 V731I PREX1_ENST00000396220 E1246K PREX1_ENST00000396220 G215S PREX1_ENST00000396220 R432Q PREX1_ENST00000396220 R78H PREX1_ENST00000396220 V731I PREX2 A1523V PREX2 G233C PREX2 G327R PREX2 I1102T PREX2 I396M PREX2 K1578N PREX2 K905T PREX2 L50V PREX2 R155Q PREX2 R297H PREX2 R363Q PREX2 R692Q PREX2 S565L PREX2 S926P PREX2 V537A PREX2 V537I PREX2_ENST00000354677 G233C PREX2_ENST00000354677 G327R PREX2_ENST00000354677 I396M PREX2_ENST00000354677 K905T PREX2_ENST00000354677 L50V PREX2_ENST00000354677 R155Q PREX2_ENST00000354677 R297H PREX2_ENST00000354677 R363Q PREX2_ENST00000354677 S565L PREX2_ENST00000354677 V537A PRF1 R385W PRG-3 N178S PRG3 R111H PRG4 A486T PRG4 C50Y PRG4 E473K PRG4 E79K PRG4 E950K PRG4 G300E PRG4 G809E PRG4 P122L PRG4 P1347S PRG4 P440T PRG4 P464T PRG4 S427P PRG4 S515A PRG4 T401P PRG4 T417P PRG4 T901A PRH2 I42L PRIC285 E1289Q PRIC285 P1898L PRICKLE1 L427P PRICKLE1 P2L PRICKLE1 R657Q PRIM1 F211C PRIM2 K397T PRKAA1 Q16R PRKAA2 P371T PRKAA2 S523G PRKAA2 T506A PRKAA2_ENST00000371244 D461N PRKAA2_ENST00000371244 R407Q PRKAA2_ENST00000371244 T506A PRKACA P102L PRKACB E32G PRKACB T300M PRKACB_ENST00000370685 A3S PRKACB_ENST00000370685 E79G PRKACB_ENST00000370685 T347M PRKACB_ENST00000370688 E32G PRKACB_ENST00000394838 E39G PRKACB_ENST00000394838 T307M PRKACG A299T PRKAG1 R299Q PRKAG2 Q337R PRKAG2 R456Q PRKAG2_ENST00000433631 Q212R PRKAG2_ENST00000433631 R331Q PRKAR2B S309L PRKCA D467N PRKCA P613S PRKCB E591K PRKCB R336Q PRKCB_ENST00000303531 D341N PRKCB_ENST00000303531 E591K PRKCB_ENST00000303531 G88D PRKCB_ENST00000303531 R336Q PRKCB_ENST00000303531 V522L PRKCB_ENST00000321728 D341N PRKCB_ENST00000321728 D631N PRKCB_ENST00000321728 E591K PRKCB_ENST00000321728 G88D PRKCB_ENST00000321728 R336Q PRKCB_ENST00000321728 V522L PRKCD E553G PRKCD R67C PRKCDBP L158P PRKCD_ENST00000394729 E553G PRKCE R150H PRKCG D193N PRKCG T208A PRKCG_ENST00000540413 E79K PRKCG_ENST00000540413 T208A PRKCH A85V PRKCH S465L PRKCH V390A PRKCI D463H PRKCI P118L PRKCI R272P PRKCI R480C PRKCI Y430C PRKCQ F406L PRKCQ G211E PRKCQ K240R PRKCQ R635W PRKCZ_ENST00000378567 R260C PRKD1 A717D PRKD1 A717V PRKD1 E857G PRKD1 G664V PRKD1 R172H PRKD1 R677M PRKD1 R732W PRKD1_ENST00000331968 A717D PRKD1_ENST00000331968 A717V PRKD1_ENST00000331968 E857G PRKD1_ENST00000331968 G664V PRKD1_ENST00000331968 R172H PRKD1_ENST00000331968 R732W PRKD2 A578E PRKD2 D411N PRKD2 E363G PRKD2 L662F PRKD3 R211C PRKD3 R211H PRKD3_ENST00000379066 R211H PRKDC G1228C PRKDC G2941A PRKDC H1133R PRKDC K2259E PRKDC K263N PRKDC K2717E PRKDC K2717R PRKDC M1880I PRKDC M1880V PRKDC M3846I PRKDC M3846V PRKDC N1662I PRKDC N1662Y PRKDC R1136H PRKDC R1447G PRKDC R2522Q PRKDC S3458P PRKDC Y3475C PRKG1 C610F PRKG1 I684T PRKG1_ENST00000401604 C595F PRKG2 L136M PRKG2 R27W PRKG2_ENST00000395578 R27W PRKRA K122N PRKRA L189F PRKRIR R557C PRKX V94I PRLHR R125H PRLR F501V PRLR R427K PRMT1 L150P PRMT10 R616H PRMT5 R49C PRMT5_ENST00000397441 R32C PRMT6 Y100C PRMT7 R266W PRMT8 I250T PRMT8 N301K PRMT8 R394C PRNP M129V PROCR R98L PRODH2 R525Q PRODH2 T420M PROK1 H61P PROK2 R101Q PROKR1 A298V PROKR1 V245M PROKR2 A175T PROKR2 K53N PROKR2 L95P PROKR2 R298C PROM1 A766S PROM1 A772P PROM1 N415S PROM1 R472Q PROM1 Y412N PROM2 M183I PROS1 D198Y PROSC S46N PROX1 K611N PROX1 R156H PROX1 R228Q PROX1 R251H PROX1 R596C PROX1 T522M PROX2 R184C PROX2_ENST00000445876 R184C PROZ E51K PRPF19 T287P PRPF39 Y48C PRPF4 L488Q PRPF4 V140I PRPF4B F147L PRPF4B W157C PRPF4B_ENST00000337659 W668C PRPF6 V915M PRPF8 E868K PRPF8 N1069D PRPH2 K154R PRPH2 V209I PRPS1 D203G PRPS1 D203H PRPS1 V219A PRPS1L1 N262T PRPS1L1 S58G PRPS1L1_ENST00000506618 N262T PRPSAP1 R250H PRR12_ENST00000418929 V188M PRR14L R17W PRR14L_ENST00000327423 E1339K PRR14L_ENST00000327423 R1864W PRR14L_ENST00000327423 S1415L PRR14L_ENST00000397493 E1339K PRR14L_ENST00000397493 E745K PRR14L_ENST00000397493 R1864W PRR14L_ENST00000397493 S1415L PRR15 P124H PRR15L N91Y PRR16 R206S PRR21 H323R PRR21 P135R PRR21 R53W PRR21 V98L PRR23B H245Q PRR23C A201V PRR4 R81H PRR5-ARHGAP8 G295W PRR5-ARHGAP8 L156V PRRC2A E32K PRRC2A R1152H PRRC2A R213H PRRC2B A1955T PRRC2B A441V PRRC2B D1005N PRRC2B R1067W PRRC2B R1455H PRRC2B V1673I PRRC2B_ENST00000357304 A1955T PRRC2B_ENST00000357304 A441V PRRC2B_ENST00000357304 D1005N PRRC2B_ENST00000357304 R1067W PRRC2B_ENST00000357304 R1455H PRRC2B_ENST00000357304 V1673I PRRG1 F60L PRRG1 R29G PRRG3 R124H PRRT2 A129T PRRT2 A214P PRRX1_ENST00000239461 R145Q PRRX1_ENST00000367760 R145Q PRSS1 W57C PRSS16 A421T PRSS16 A54E PRSS2 G208R PRSS23 R128W PRSS27 E219G PRSS38 V49M PRSS45 V171G PRSS48 A78T PRSS48 D60G PRSS48 F59L PRSS48 G254C PRSS48 G67C PRSS48 L74W PRSS48 N62S PRSS48 R50C PRSS48_ENST00000455694 A66T PRSS48_ENST00000455694 D48G PRSS48_ENST00000455694 F47L PRSS48_ENST00000455694 G245C PRSS48_ENST00000455694 G55C PRSS48_ENST00000455694 L62W PRSS48_ENST00000455694 N50S PRSS48_ENST00000455694 R38C PRSS48_ENST00000455694 V28I PRSS53 P406A PRSS54 E379K PRSS54 V32I PRSS55 A151T PRSS55 E188K PRSS57 E39Q PRSS58 T109A PRTG I648F PRTG V50A PRUNE E403D PRUNE H19Y PRUNE2_ENST00000376718 A2918G PRUNE2_ENST00000376718 R2151Q PRUNE2_ENST00000376718 S1436I PRX G877D PRX Q547E PSAP V52I PSAT1 A85P PSAT1 C80Y PSD C424Y PSD2 D599E PSD2 G84W PSD2 R320H PSD2 V518I PSD3 G375S PSD3 K406R PSD3_ENST00000440756 G909S PSD3_ENST00000440756 K940R PSENEN R39Q PSENEN R82W PSG2 R227C PSG2 R252H PSG3 D161G PSG3 R397C PSG3 T367A PSG4 R252H PSG4_ENST00000405312 R320H PSG4_ENST00000405312 R345H PSG5 A117T PSG6 K208R PSG6 R219W PSG8 A6V PSG8 G128D PSG8 R320C PSG8 R397C PSG8 Y322D PSKH2 A32T PSKH2 G312D PSKH2 R308H PSKH2 R338Q PSKH2 T252K PSMA7 D185Y PSMA8 G36E PSMB8 R212W PSMC3 K233N PSMC3 N207S PSMC6 E21D PSMC6 R291H PSMD11 L136S PSMD12 R201Q PSMD13 Q164K PSMD13_ENST00000431206 Q166K PSMD3 G383V PSMD3 L160V PSMD3 V171M PSMD6 E99G PSMD6 E99K PSME4 C405S PSME4 H970D PSME4 H970R PSME4_ENST00000404125 C519S PSME4_ENST00000404125 H1084R PSPC1 H313R PSPH V116I PSRC1 T145M PSTPIP1 R62Q PSTPIP1_ENST00000558012 R62Q PSTPIP2 G196D PSTPIP2 L114Q PSTPIP2_ENST00000409746 L114Q PTBP2 S34I PTCD1 E83D PTCD2 R105Q PTCD3 I152K PTCH1 A478V PTCH1 D857G PTCH1 D898N PTCH1 E1242K PTCH1 E165G PTCH1 E237K PTCH1 E680G PTCH1 F743L PTCH1 G1212S PTCH1 G484R PTCH1 G774R PTCH1 I791T PTCH1 L1016P PTCH1 L1315P PTCH1 L175P PTCH1 M561R PTCH1 P1315L PTCH1 P504Q PTCH1 P568L PTCH1 P681L PTCH1 P689L PTCH1 P702L PTCH1 P702S PTCH1 Q1284H PTCH1 Q160R PTCH1 Q184K PTCH1 Q365R PTCH1 Q688R PTCH1 R294C PTCH1 R682L PTCH1 S331F PTCH1 S616G PTCH1 T1195S PTCH1 T1214M PTCH1 T362A PTCH1 T416S PTCH1 T807A PTCH1 V1131M PTCH1 V474A PTCH1 W399R PTCH1 W844C PTCH1 Y955C PTCH1_ENST00000331920 D857G PTCH1_ENST00000331920 D898N PTCH1_ENST00000331920 E165G PTCH1_ENST00000331920 E680G PTCH1_ENST00000331920 F743L PTCH1_ENST00000331920 G774R PTCH1_ENST00000331920 L1016P PTCH1_ENST00000331920 L175P PTCH1_ENST00000331920 P702S PTCH1_ENST00000331920 Q160R PTCH1_ENST00000331920 Q184K PTCH1_ENST00000331920 Q365R PTCH1_ENST00000331920 Q688R PTCH1_ENST00000331920 S1425L PTCH1_ENST00000331920 S616G PTCH1_ENST00000331920 T362A PTCH1_ENST00000331920 T807A PTCH1_ENST00000331920 V1131M PTCH1_ENST00000331920 V474A PTCH1_ENST00000331920 W399R PTCH1_ENST00000331920 Y955C PTCH1_ENST00000375274 D856G PTCH1_ENST00000375274 D897N PTCH1_ENST00000375274 E164G PTCH1_ENST00000375274 E679G PTCH1_ENST00000375274 F742L PTCH1_ENST00000375274 G773R PTCH1_ENST00000375274 L1015P PTCH1_ENST00000375274 L174P PTCH1_ENST00000375274 P701S PTCH1_ENST00000375274 Q159R PTCH1_ENST00000375274 Q183K PTCH1_ENST00000375274 Q364R PTCH1_ENST00000375274 Q687R PTCH1_ENST00000375274 S1424L PTCH1_ENST00000375274 S615G PTCH1_ENST00000375274 T361A PTCH1_ENST00000375274 T806A PTCH1_ENST00000375274 V1130M PTCH1_ENST00000375274 V473A PTCH1_ENST00000375274 W398R PTCH1_ENST00000375274 Y954C PTCH1_ENST00000430669 D856G PTCH1_ENST00000430669 D897N PTCH1_ENST00000430669 E164G PTCH1_ENST00000430669 E679G PTCH1_ENST00000430669 F742L PTCH1_ENST00000430669 G773R PTCH1_ENST00000430669 L1015P PTCH1_ENST00000430669 L174P PTCH1_ENST00000430669 P701S PTCH1_ENST00000430669 Q159R PTCH1_ENST00000430669 Q183K PTCH1_ENST00000430669 Q364R PTCH1_ENST00000430669 Q687R PTCH1_ENST00000430669 S1424L PTCH1_ENST00000430669 S615G PTCH1_ENST00000430669 T361A PTCH1_ENST00000430669 T806A PTCH1_ENST00000430669 V473A PTCH1_ENST00000430669 W398R PTCH1_ENST00000430669 Y954C PTCH2 E83G PTCH2 G171A PTCH2 K240R PTCH2 R556W PTCH2 W293S PTCHD1 S609L PTCHD1 V568A PTCHD1 V576A PTCHD1 V576I PTCHD1_ENST00000379361 S714L PTCHD1_ENST00000379361 V681A PTCHD2 P438L PTCHD2 Q434H PTCHD2 R335C PTCHD2 R631C PTCHD2 R673C PTCHD2 R854Q PTCHD2 S1013N PTCHD2 V1237I PTCHD3 A256V PTCHD3 P21L PTCHD3 T277M PTDSS1 H411R PTDSS1 N226S PTDSS2 R151W PTEN A120T PTEN A121E PTEN A121P PTEN A126D PTEN A126P PTEN A126S PTEN A126T PTEN A126V PTEN A148T PTEN A151T PTEN A3D PTEN A79T PTEN A86P PTEN A86S PTEN C105F PTEN C105S PTEN C105W PTEN C105Y PTEN C124R PTEN C124S PTEN C136F PTEN C136R PTEN C136Y PTEN C71Y PTEN D107N PTEN D107Y PTEN D116G PTEN D153Y PTEN D162G PTEN D162H PTEN D162V PTEN D24E PTEN D24G PTEN D24N PTEN D24Y PTEN D252G PTEN D252Y PTEN D326G PTEN D331G PTEN D375N PTEN D52G PTEN D92E PTEN D92G PTEN D92H PTEN D92N PTEN D92V PTEN E114G PTEN E150G PTEN E256K PTEN E284G PTEN E288K PTEN E291G PTEN E291K PTEN E299G PTEN E307G PTEN E307K PTEN E352G PTEN E91G PTEN E91Q PTEN F154L PTEN F21S PTEN F238L PTEN F241L PTEN F241S PTEN F271L PTEN F271S PTEN F341V PTEN F37S PTEN F56V PTEN F81C PTEN F81L PTEN F90L PTEN G127E PTEN G127R PTEN G127V PTEN G129R PTEN G129V PTEN G132C PTEN G132D PTEN G132S PTEN G132V PTEN G156R PTEN G165E PTEN G165R PTEN G251C PTEN G251D PTEN G251V PTEN G36E PTEN G36R PTEN G36V PTEN G44D PTEN H123D PTEN H123R PTEN H123Y PTEN H141N PTEN H141R PTEN H272Y PTEN H397R PTEN H61R PTEN H93Q PTEN H93R PTEN H93Y PTEN I101T PTEN I122T PTEN I135K PTEN I135M PTEN I135V PTEN I253N PTEN I253T PTEN I28M PTEN I33S PTEN K125E PTEN K125N PTEN K128N PTEN K128R PTEN K13E PTEN K164R PTEN K254E PTEN K263R PTEN K342N PTEN K342R PTEN K344E PTEN K344R PTEN K66E PTEN K66N PTEN K6N PTEN K6R PTEN L108P PTEN L108R PTEN L112P PTEN L112Q PTEN L112V PTEN L139F PTEN L152P PTEN L182F PTEN L193P PTEN L23F PTEN L25F PTEN L318P PTEN L325H PTEN L325P PTEN L325R PTEN L345Q PTEN L42R PTEN L57S PTEN L57W PTEN M134I PTEN M134L PTEN M1T PTEN M205I PTEN M35V PTEN N276K PTEN N323K PTEN N48D PTEN N48I PTEN N82T PTEN N94S PTEN P103S PTEN P204T PTEN P213H PTEN P246L PTEN P339L PTEN P339S PTEN P38S PTEN P95L PTEN P95S PTEN P96L PTEN P96S PTEN Q110R PTEN Q171E PTEN Q171P PTEN R130G PTEN R130L PTEN R130P PTEN R130Q PTEN R142Q PTEN R142W PTEN R14G PTEN R159K PTEN R159S PTEN R15G PTEN R15I PTEN R15K PTEN R15S PTEN R161I PTEN R161K PTEN R173C PTEN R173H PTEN R234W PTEN R308C PTEN R47G PTEN R55G PTEN S10N PTEN S113G PTEN S170I PTEN S170N PTEN S227P PTEN S287L PTEN S287P PTEN S364C PTEN S59L PTEN T131A PTEN T160I PTEN T167A PTEN T167I PTEN T167S PTEN T26I PTEN T26P PTEN T277A PTEN T277I PTEN T348A PTEN T401I PTEN V119A PTEN V119F PTEN V119I PTEN V133I PTEN V216M PTEN V222A PTEN V255A PTEN V275L PTEN V85A PTEN W111R PTEN W274G PTEN W274L PTEN Y138C PTEN Y138D PTEN Y155C PTEN Y155H PTEN Y16C PTEN Y174D PTEN Y177C PTEN Y177F PTEN Y27C PTEN Y27D PTEN Y68C PTEN Y68H PTEN Y68N PTEN Y88C PTER L14P PTER R277I PTGDR R310Q PTGER3 M301I PTGER3_ENST00000356595 M301I PTGER3_ENST00000370924 M301I PTGES3 H66P PTGFR A253V PTGFRN R214H PTGFRN R454C PTGFRN S343L PTGFR_ENST00000370758 A253V PTGIR A98T PTGIS R373Q PTGS1_ENST00000362012 E404K PTGS1_ENST00000362012 M412I PTGS1_ENST00000362012 P541L PTGS2 R600H PTGS2_ENST00000367468 R600H PTH2 L22V PTH2R E527G PTHLH R142Q PTHLH S169L PTK2 F169L PTK2 F169S PTK2B E126K PTK2B_ENST00000544172 E126K PTK2_ENST00000395214 A247V PTK2_ENST00000395214 F57L PTK2_ENST00000395214 F57S PTK2_ENST00000395218 F147L PTK2_ENST00000395218 F147S PTK7 A933V PTK7 E743D PTK7 F34L PTK7 R48Q PTN K44T PTOV1 R392C PTPDC1 L726P PTPDC1 R428W PTPDC1_ENST00000375360 L674P PTPDC1_ENST00000375360 R376W PTPLA A223T PTPLAD1 K358N PTPMT1 F182L PTPN11 A72D PTPN11 A72T PTPN11 A72V PTPN11 D61G PTPN11 D61H PTPN11 D61N PTPN11 D61V PTPN11 D61Y PTPN11 E139D PTPN11 E139G PTPN11 E69G PTPN11 E69K PTPN11 E76A PTPN11 E76G PTPN11 E76K PTPN11 E76Q PTPN11 E76V PTPN11 F71K PTPN11 F71L PTPN11 G503A PTPN11 G503E PTPN11 G503V PTPN11 G60R PTPN11 G60V PTPN11 N308D PTPN11 N339S PTPN11 N58D PTPN11 N58Y PTPN11 P491L PTPN11 Q510H PTPN11 Q510K PTPN11 Q510L PTPN11 S502L PTPN11 S502P PTPN11 T507A PTPN11 T507K PTPN11 T52S PTPN11 T73I PTPN11 Y63C PTPN12 K428T PTPN12 R707Q PTPN12 R765Q PTPN12 T755A PTPN13 I1175T PTPN13 I2373T PTPN13 L514R PTPN13 S1754L PTPN13 S887L PTPN13 T673A PTPN14 E946G PTPN14 R24Q PTPN20C E96K PTPN20C_ENST00000316733 E96K PTPN20C_ENST00000455582 E99K PTPN21 R390H PTPN21 R76W PTPN22 Q475E PTPN23 P1258L PTPN3 T744M PTPN5 T392M PTPN5 T432M PTPN5_ENST00000358540 P170A PTPN5_ENST00000358540 T392M PTPN7 R115H PTPN9 S476L PTPRA D237N PTPRB A1023E PTPRB L412P PTPRB R1420K PTPRB R1677W PTPRB V1713M PTPRB_ENST00000261266 A1023E PTPRB_ENST00000261266 L412P PTPRB_ENST00000261266 V1713M PTPRB_ENST00000334414 A1241E PTPRB_ENST00000334414 L630P PTPRB_ENST00000334414 R1638K PTPRB_ENST00000334414 R1895W PTPRB_ENST00000334414 R86H PTPRB_ENST00000334414 V1931M PTPRC A1187V PTPRC E228A PTPRC E228G PTPRC G863R PTPRC P160L PTPRC R415K PTPRC R515H PTPRCAP_ENST00000326294 T155M PTPRD A1387T PTPRD D1162G PTPRD D154Y PTPRD L1053I PTPRD L289P PTPRD N1414S PTPRD P1257L PTPRD R1798Q PTPRD R1898C PTPRD R584S PTPRD S1431Y PTPRD T337I PTPRD_ENST00000346816 A858T PTPRD_ENST00000346816 D633G PTPRD_ENST00000346816 L289P PTPRD_ENST00000346816 P728L PTPRD_ENST00000346816 R1369C PTPRD_ENST00000346816 T337I PTPRD_ENST00000355233 D751G PTPRD_ENST00000355233 L289P PTPRD_ENST00000355233 P846L PTPRD_ENST00000355233 R1492C PTPRD_ENST00000381196 D1162G PTPRD_ENST00000381196 L289P PTPRD_ENST00000381196 P1257L PTPRD_ENST00000381196 R1898C PTPRD_ENST00000381196 R733H PTPRD_ENST00000381196 V892A PTPRE A652S PTPRE G89R PTPRE R374H PTPRE_ENST00000306042 A594S PTPRE_ENST00000306042 R316H PTPRF E1721K PTPRF R1584Q PTPRF R1788Q PTPRG E839K PTPRG R703S PTPRG R992C PTPRG S207C PTPRH H1111Q PTPRH S365F PTPRH T168A PTPRH T168I PTPRH T732M PTPRH V597I PTPRJ K1017N PTPRK P1423L PTPRK R1294Q PTPRK S1304P PTPRK_ENST00000368213 S1310P PTPRM A12V PTPRM A673V PTPRM D1436N PTPRM G543E PTPRM V161A PTPRM V869M PTPRN H259Y PTPRN R350C PTPRN R776Q PTPRN2 A355T PTPRN2 A757V PTPRN2 R522H PTPRN2 V558M PTPRO E854K PTPRO F938L PTPRO P960Q PTPRO S280Y PTPRO V230I PTPRR R624C PTPRR R77H PTPRR T541A PTPRS A1376T PTPRS T576M PTPRT A731T PTPRT E474K PTPRT E630K PTPRT E914K PTPRT F109L PTPRT H187Y PTPRT M1300I PTPRT P1235L PTPRT R1373C PTPRT R1406C PTPRT R1436H PTPRT R328C PTPRT R790I PTPRT R837C PTPRT S656F PTPRT S84F PTPRT T1314A PTPRT V1323L PTPRU A1392T PTPRU D1434N PTPRU R1166H PTPRU V1110I PTPRU_ENST00000356870 D1428N PTPRZ1 C2144F PTPRZ1 D1426G PTPRZ1 E612K PTPRZ1 H968Q PTPRZ1 K973T PTPRZ1 M1235V PTPRZ1 N1746D PTPRZ1 R205H PTPRZ1 R833C PTPRZ1 S647F PTPRZ1_ENST00000393386 D1426G PTPRZ1_ENST00000393386 E612K PTPRZ1_ENST00000393386 H968Q PTPRZ1_ENST00000393386 K973T PTPRZ1_ENST00000393386 M1235V PTPRZ1_ENST00000393386 N1746D PTPRZ1_ENST00000393386 R205H PTPRZ1_ENST00000393386 R833C PTRF A218T PTTG1IP G106V PTX3 A17V PUF60 V230M PUM1 N307S PUM1 S657G PUM2 D33N PUS1 D133N PUS7 R661C PUS7L A685V PVRIG G148E PVRL1 G162V PVRL1_ENST00000340882 G162V PVRL1_ENST00000341398 G162V PVRL4 I478T PXDN E1339G PXDN R1198W PXDN R674Q PXDNL A144T PXDNL A144V PXDNL A283V PXDNL_ENST00000356297 A1084V PXDNL_ENST00000356297 A945T PXDNL_ENST00000356297 D114Y PXDNL_ENST00000356297 F513Y PXDNL_ENST00000356297 L468F PXDNL_ENST00000356297 S233I PXDNL_ENST00000356297 T1312M PXMP2 Y91C PXMP4 R89C PYCRL K150N PYGB A108S PYGB A303S PYGM R816C PYGO1 R40H PYGO2 R46S PYHIN1 D32N PYHIN1 E146G PYHIN1 F451L PYHIN1 F451S PYHIN1 T341M PZP A387T PZP R1128H PZP W864L PZP_ENST00000381997 A256T Q13209_HUMAN F672C Q13209_HUMAN G440R Q13209_HUMAN P415L Q13209_HUMAN R25H Q13209_HUMAN W317R Q2VIK8_HUMAN L226R Q3ZCN4_HUMAN H139Q Q4G197_HUMAN A54T Q5I0X0_HUMAN F124L Q5JV89_HUMAN L285F Q5JV89_HUMAN V286I Q5TFB2_HUMAN C79R Q5VVH2_HUMAN R19C Q6NZ63_HUMAN I210T Q6YL47_HUMAN A1210T Q6YL47_HUMAN A1268V Q6YL47_HUMAN E1400K Q6YL47_HUMAN N1004S Q6YL47_HUMAN T103M Q6YL47_HUMAN T435M Q6YL47_HUMAN V1504A Q7Z2S2_HUMAN K656E Q7Z2S2_HUMAN N546K Q7Z2S2_HUMAN P150S Q7Z2S2_HUMAN S125P Q7Z2S2_HUMAN T141A Q86U10_HUMAN A223T Q86U10_HUMAN F204L Q86U10_HUMAN G386V Q86U10_HUMAN L448R Q86U10_HUMAN R210W Q86U10_HUMAN R270C Q86U89_HUMAN R713H Q8N800_HUMAN V721I Q8N8C9_HUMAN C396S Q8N8C9_HUMAN L371P Q8N8C9_HUMAN V380L Q8N8K0_HUMAN E1234G Q8N8K0_HUMAN F1450L Q8NGM6_HUMAN I125V Q8NGP7_HUMAN T87I Q8NH47_HUMAN S225I Q8NH47_HUMAN V188I Q96CK5_HUMAN R390W Q96M56_HUMAN Q274R Q99543-2 K567N Q9C0K3_HUMAN E3K Q9Y6V0-3 E2856D Q9Y6V0-3 L1311R Q9Y6V0-3 S2487F Q9Y6V0-3 S3539Y QARS R403Q QDPR K79N QKI R336Q QPRT R86K QRFPR E406K QRICH1 K637N QRICH2 A449G QRICH2 A449T QRICH2 G95R QRICH2 H581Q QRICH2 P1246L QRICH2 R572C QRICH2 R673H QRICH2 W1362C QRSL1 S226L QSER1 W1715R QSOX1 A559T QSOX2 F473L QSOX2 G347R R3HDM1 A896D R3HDM1 G829R R3HDM1 H241Q R3HDM2 A230V R3HDM2 R609C R3HDM2_ENST00000347140 A569V R3HDM2_ENST00000347140 R948C RAB11FIP1 R139Q RAB11FIP3 A696T RAB11FIP4 A624T RAB11FIP4 S596L RAB12 T161M RAB19 T128A RAB22A D60H RAB24_ENST00000303251 R107H RAB27B R184Q RAB28 D164G RAB28 R146Q RAB28_ENST00000330852 D164G RAB28_ENST00000330852 R146Q RAB32 T215N RAB33A S181L RAB36 R303Q RAB37_ENST00000392613 V63F RAB38 I26T RAB39 R119W RAB39B S200F RAB3B Y91C RAB3C D66N RAB3C E115G RAB3C R186C RAB3C R49H RAB3GAP1 R187Q RAB3GAP2 F713L RAB3GAP2 L616S RAB3GAP2 P299S RAB3GAP2 V235L RAB40AL T168M RAB40C G251S RAB41 I78R RAB4A R207H RAB5B Y145C RAB5C R40H RAB6C D190G RAB6C N235K RAB7L1 P117L RAB7L1 R79W RAB8A G20W RABEP1_ENST00000262477 R126C RABGAP1 K256N RABGAP1L A588T RABGAP1L K9R RABGEF1 A371T RABL3 R107C RAC1 A159V RAC1 P29S RAC1_ENST00000356142 A178V RAC1_ENST00000356142 P29S RAC2 P29L RAD18 E227K RAD18 R489G RAD21 Q474R RAD23B R289K RAD51AP2 D362N RAD51B R18C RAD51B_ENST00000487270 R18C RAD51B_ENST00000488612 R18C RAD51D G177V RAD54B S69C RAD54L R52Q RAD54L R716Q RAD54L2 V687I RAD9B K217T RAD9B_ENST00000392672 K375T RADIL K79Q RADIL L507I RAE1 A275V RAET1L M85L RAF1 Q335R RAF1 R215C RAF1 R495H RAF1 S257L RAG1 K621R RAG1 P42H RAG1 R699W RAG1 R759C RAG1 R897Q RAG2 G323E RAGE E272G RAI14 S805L RAI2 R351Q RAI2 V474M RALB G23V RALGAPA1 N1427S RALGAPA1 R398C RALGAPA1 R765C RALGAPA1_ENST00000307138 M2060V RALGAPA1_ENST00000307138 R765C RALGAPA2 R385Q RALGAPA2_ENST00000202677 R385Q RALGDS R496H RALGPS2 I266V RALY G248S RALYL R151H RALYL_ENST00000522455 R151H RAMP3 M75I RAMP3 V127I RANBP1 E16G RANBP17 E452G RANBP17 S276F RANBP17 T643M RANBP2 E937D RANBP2 H466Q RANBP2 N2383S RANBP2 Q2121R RANBP2 R1203C RANBP2 R1231C RANBP2 R428Q RANBP2_ENST00000283195 E937D RANBP2_ENST00000283195 H466Q RANBP2_ENST00000283195 N2383S RANBP2_ENST00000283195 Q2121R RANBP2_ENST00000283195 R1203C RANBP2_ENST00000283195 R1231C RANBP2_ENST00000283195 R428Q RANBP3L L189S RANBP6 E579K RANBP6 I984L RANBP6 K106R RANBP9 S548L RANBP9 S683G RANGAP1 A351V RANGAP1 V268G RAP1A G115D RAP1GDS1 L299V RAP2A D174G RAP2A M143I RAP2C V153M RAPGEF1 F39L RAPGEF1 F39S RAPGEF1 K940E RAPGEF2 A1237T RAPGEF2 A376T RAPGEF2 E882K RAPGEF2 H1377L RAPGEF2 K976E RAPGEF3 V230M RAPGEF4 N991H RAPGEF5 A432S RAPGEF5 R277Q RAPGEF5_ENST00000344041 A718S RAPGEF5_ENST00000344041 R563Q RAPGEF6 D1130G RAPGEF6 D1130H RAPGEF6_ENST00000307984 D1093G RAPGEF6_ENST00000308008 D1080G RAPGEF6_ENST00000509018 D1080G RAPH1 E400K RAPH1 G557R RAPH1 M376I RAPH1 R1175Q RAPH1_ENST00000308091 G609R RARA D256Y RARG G430S RARRES3 E7G RARS2 A564S RARS2 G175D RARS2 R6C RASA1 R391W RASA1_ENST00000456692 R17C RASA1_ENST00000456692 R214W RASA2 E759G RASA2 R760I RASA2 T136A RASA2_ENST00000286364 E759G RASA2_ENST00000286364 R760I RASA2_ENST00000286364 T136A RASAL1 D76Y RASAL1 R255C RASAL1 V11L RASAL2 E509D RASAL2 E509G RASAL2 F318L RASAL2 G1028R RASAL2_ENST00000367649 E527G RASAL2_ENST00000367649 F336L RASAL2_ENST00000367649 G1039R RASAL2_ENST00000462775 E379G RASEF H350R RASGEF1A A151T RASGEF1A A401T RASGEF1A V400I RASGEF1A_ENST00000395809 A204T RASGEF1A_ENST00000395809 A454T RASGEF1A_ENST00000395809 V453I RASGEF1C G293S RASGEF1C_ENST00000393371 G293S RASGRF1 Q163H RASGRF1 R947C RASGRF2 D538N RASGRF2 R114H RASGRF2 R244I RASGRP1 S314L RASGRP3_ENST00000403687 R549Q RASGRP3_ENST00000403687 R60Q RASL10B N142K RASL10B V52M RASSF2 R63H RASSF5_ENST00000304534 E16G RASSF6 R140H RASSF6_ENST00000307439 R108H RB1 C706F RB1 D718G RB1 D718N RB1 E323G RB1 E440K RB1 E51G RB1 E533G RB1 E533K RB1 E54G RB1 G865V RB1 I388T RB1 K715E RB1 L607P RB1 L688P RB1 N328D RB1 P515L RB1 Q444H RB1 Q702K RB1 R320L RB1 R451C RB1 R556Q RB1 R661W RB1 R698G RB1 R698W RB1 S612P RB1 S82P RB1 V654M RB1 V754G RB1 W563R RB1 Y659F RB1 Y659H RB1 Y728C RB1 Y756C RB1CC1 A361S RB1CC1 A683T RB1CC1 A771V RB1CC1 R776Q RB1_ENST00000267163 D718G RB1_ENST00000267163 E323G RB1_ENST00000267163 E440K RB1_ENST00000267163 E51G RB1_ENST00000267163 E533G RB1_ENST00000267163 E533K RB1_ENST00000267163 E54G RB1_ENST00000267163 G865V RB1_ENST00000267163 I388T RB1_ENST00000267163 K715E RB1_ENST00000267163 L607P RB1_ENST00000267163 N328D RB1_ENST00000267163 P515L RB1_ENST00000267163 R320L RB1_ENST00000267163 R556Q RB1_ENST00000267163 R698G RB1_ENST00000267163 S612P RB1_ENST00000267163 S82P RB1_ENST00000267163 W563R RB1_ENST00000267163 Y728C RB1_ENST00000267163 Y756C RBBP4 A82D RBBP4 E330K RBBP4 L40V RBBP5 R272W RBBP6 M1313T RBBP6 S539G RBBP6 S995T RBBP7 D198N RBBP7 E274K RBBP7 E313K RBBP7 F312L RBBP7 N276S RBBP7 R303H RBBP7 R340H RBBP8 E752Q RBBP8 G810V RBBP8_ENST00000399725 E752Q RBFOX1 A283T RBFOX1 A392V RBFOX1 E194D RBFOX1 P117L RBFOX1 R149W RBFOX1 V200M RBFOX1_ENST00000311745 A283T RBFOX1_ENST00000311745 Q404H RBFOX1_ENST00000311745 R149W RBFOX1_ENST00000311745 V200M RBFOX1_ENST00000550418 R129W RBFOX2 A266T RBKS Q230R RBKS V18G RBL1 G323R RBL1 H498N RBL1 N422S RBL1 V251A RBL1 V622A RBL1 W568C RBL2 P168L RBL2 R367G RBM10 E119D RBM10 R396H RBM11 R247Q RBM12 D355G RBM12 D355N RBM12 M395I RBM12B K399R RBM12B P815S RBM14 L608F RBM14 R585Q RBM15_ENST00000369784 G296D RBM15_ENST00000369784 L976P RBM15_ENST00000369784 R396C RBM19 D38N RBM19 E115K RBM19 V661A RBM22 R216W RBM22 R395W RBM25 K527R RBM27 D189N RBM27 S1022P RBM34_ENST00000408888 M6I RBM38 A19P RBM39 D151V RBM46 S385Y RBM5 S323L RBM6 P822S RBM7 Q167R RBMS2 A394T RBMX A78T RBMX D5Y RBMX P167A RBMX R187G RBMX R331Q RBMX T297A RBMX2 K169E RBMX2 K169R RBMX2 K172R RBMX2 K77R RBMX2 R69W RBMXL2 G287R RBMXL3 C662R RBMXL3 W620R RBMX_ENST00000431446 E79G RBP3 D84N RBP3 G967S RBP3 T471M RBP5 G68R RBPJ G30E RBPJ R23Q RBPJ V390I RBPJL C208R RBPJL T249M RBPJ_ENST00000348160 G31E RBPJ_ENST00000348160 V391I RC3H2 Y589H RCAN3 V54I RCBTB2 D451Y RCBTB2 Q214P RCBTB2 T19N RCC2 R374C RCCD1 R344C RCN1 K70N RCN1 R170H RCN2 R234T RCN3 R201W RCOR1 E263G RCOR2 R254Q RCOR3 N318S RCSD1 S219P RCSD1 S333G RDH12 R239W RDH12 R314Q RDH13 N21S RDH13_ENST00000415061 N92S RDH16 A237T REC8 E460Q RECK A715T RECK D891N RECQL A248T RECQL5 C805Y RECQL5 R845H REG1A C36R REG1A R110H REG1A R54S REG1A S69L REG1B H103Q REG1B W57L REG3G R93S REG4 E145K REL K135R RELA E127G RELN D368N RELN E331K RELN F1606I RELN F2722L RELN G111R RELN L2203I RELN L2203P RELN L3265P RELN M702T RELN M702V RELN P2875L RELN R1727W RELN R2192Q RELN R2292C RELN R2428W RELN R3397Q RELN R3450G RELN V3365A RELT E242G REPIN1 D456N REPIN1_ENST00000489432 D513N REPS1 R131H RERE E1173K REST H1012L REST I747M REST K184N REST M731I REST P752T REST Q622R RET A664D RET A883F RET A883S RET C611R RET C618R RET C618S RET C618Y RET C620R RET C630A RET C630R RET C630S RET C634R RET C634W RET C634Y RET E768D RET E768G RET E901K RET F1112L RET F555L RET G792R RET M918T RET R873W RET T278N RET V648I RETNLB T92P RETSAT R125C RETSAT R482L REV1 S417N REV1 T331K REV3L R1116Q REV3L R804H REV3L S1510R REV3L_ENST00000358835 R882H REV3L_ENST00000358835 S1588R REXO1 P351L RFC4 T354S RFPL2 F229L RFPL3 R251C RFTN1 G229E RFTN1 S255R RFX1 V736L RFX3 A580V RFX3 I519V RFX3_ENST00000382004 A580V RFX3_ENST00000382004 I519V RFX4 D627Y RFX4 R708C RFX4_ENST00000229387 R614C RFX4_ENST00000357881 D636Y RFX4_ENST00000357881 R717C RFX5 D610G RFX6 A561V RFX6 A745V RFX6 F779L RFX6 R525Q RFXANK D221N RFXAP E200G RG9MTD1 Y262C RG9MTD2 R69C RGAG1 E1198D RGAG4 R315H RGL1 Y209S RGL2 G314R RGN R264Q RGPD3 H1284R RGPD3 L812R RGPD3 N756D RGPD3 R816C RGPD3 S1660R RGPD3_ENST00000304514 H1284R RGPD3_ENST00000304514 L812R RGPD3_ENST00000304514 N756D RGPD3_ENST00000304514 R816C RGPD3_ENST00000304514 S1660R RGPD4 Q1169R RGPD8 E928K RGPD8 P1760A RGPD8_ENST00000302558 E928K RGPD8_ENST00000302558 P1760A RGS1 N79K RGS12 E162D RGS12 P1357L RGS12 V47I RGS13 R76L RGS16 T85S RGS18 E107G RGS18 R62H RGS21 N28S RGS22 V194A RGS22 V194I RGS22_ENST00000360863 P446L RGS22_ENST00000360863 V194A RGS22_ENST00000360863 V194I RGS3 I26T RGS3 R170W RGS3 R258W RGS3_ENST00000374140 I130T RGS3_ENST00000374140 R274W RGS4 L107Q RGS4 R166S RGS4_ENST00000421743 R263S RGS5 R172C RGS6 V314I RGS6 W366L RGS7 H244N RGS7 L360V RGS7 R273W RGS8_ENST00000483095 R161M RGS9 P476S RGS9 R515W RGS9 R577H RGS9 V482M RGSL1_ENST00000294854 L295P RGSL2 L330P RHAG I229V RHBDD1 D262G RHBDL3 M270I RHBDL3 R307W RHBG M301T RHO A260T RHOA D76G RHOA E40Q RHOA F106L RHOA R5Q RHOA R5W RHOB D13Y RHOBTB1 A404T RHOBTB1 P241L RHOBTB1 T464M RHOBTB3 D72H RHOJ D56E RHOQ_ENST00000238738 T167A RHPN2 A353T RHPN2 A353V RHPN2 H357L RHPN2 Q384R RHPN2 R406Q RHPN2 S548P RHPN2 V73M RIC8A E438K RIC8A F162L RIC8B L138P RICTOR D1435N RICTOR E372K RICTOR E643K RICTOR S703F RICTOR T1664I RICTOR T722A RIF1 D1955H RIF1 E1784K RIF1 I1511T RIF1 N1387D RIF1 P2153S RIF1 V2067F RILPL1 S358R RIMBP2 A310T RIMBP2 D723A RIMBP2 F1013V RIMBP2 G261R RIMBP2 R238W RIMBP3B R1484K RIMKLB T160M RIMS1 E1583G RIMS1 P1157L RIMS1 R136H RIMS1 R1387W RIMS1 R71G RIMS1 R927S RIMS2 A73T RIMS2 A907T RIMS2 D1102V RIMS2 L580P RIMS2 P813S RIMS2 P864T RIMS2 R142Q RIMS2 R385H RIMS2 R395H RIMS2 R613Q RIMS2 S292N RIMS2 S70L RIMS2 S957G RIMS2_ENST00000402998 A1160T RIMS2_ENST00000402998 A301T RIMS2_ENST00000402998 L855P RIMS2_ENST00000402998 P1117T RIMS2_ENST00000402998 R370Q RIMS2_ENST00000402998 R660H RIMS2_ENST00000402998 R670H RIMS2_ENST00000402998 R888Q RIMS2_ENST00000402998 S298L RIMS2_ENST00000406091 L788P RIMS2_ENST00000406091 R587H RIMS2_ENST00000406091 S262L RIMS2_ENST00000436393 A43T RIMS2_ENST00000436393 A833T RIMS2_ENST00000436393 D1306V RIMS2_ENST00000436393 L566P RIMS2_ENST00000436393 P799S RIMS2_ENST00000436393 R112Q RIMS2_ENST00000436393 R355H RIMS2_ENST00000436393 R365H RIMS2_ENST00000436393 R599Q RIMS2_ENST00000436393 S1161G RIMS2_ENST00000436393 S40L RIMS2_ENST00000507740 L580P RIMS2_ENST00000507740 R395H RIMS2_ENST00000507740 S70L RIMS3 P183L RIMS3 R105W RIMS4 E222G RIN1 E753Q RIN1 P686S RIN2 E754Q RIN3 S708L RINT1 P788L RINT1 S193P RIOK1 H348L RIOK1 V76A RIOK2 I216T RIOK2 V52L RIOK3 I306S RIOK3 S447L RIPK4 A478V RIPK4 G86V RIPK4_ENST00000352483 A526V RIPK4_ENST00000352483 G86V RIPPLY2 Q106K RIT1 M90I RIT1 R122L RLBP1 A72V RLBP1 D281N RLF E135K RLF K617N RLIM R387H RLIM S501L RLIM S501P RMI1 K419N RMI2 L125F RMND5A L57F RMND5A R211Q RMND5B R184H RMND5B R390H RNASE11 A134S RNASEH2A R291H RNASEH2A V133M RNASEL D687G RNASEL E676G RNASEL R310W RNASET2 A127V RND3 T155M RNF10 E364G RNF10 E364K RNF10 R560H RNF10 S261G RNF103 E305K RNF103 E94K RNF103 G61E RNF103 P496S RNF111 H954Y RNF113A A28T RNF113A R291H RNF113A R71C RNF113B E232D RNF113B E232G RNF113B E241K RNF123 R1209H RNF123 R406L RNF123 S1173L RNF130 D228N RNF130 E377K RNF130 R232C RNF134 R218G RNF139 R322H RNF14 Q259H RNF145 I567T RNF145 K24R RNF145 M169T RNF148 R272H RNF150 R145Q RNF150 S117L RNF150_ENST00000515673 R236Q RNF150_ENST00000515673 S208L RNF157 T1204M RNF168 S183R RNF168 S215R RNF169 I406V RNF169 T510R RNF175_ENST00000347063 V114I RNF17_ENST00000255324 S842Y RNF180 E391A RNF180 N325D RNF180_ENST00000389100 E391A RNF182 P58L RNF182 P58Q RNF182 V235A RNF182 V43A RNF185 R109C RNF19A D157N RNF19A T279A RNF20 A163T RNF20 E884G RNF20 N815D RNF20 N815S RNF207 G603A RNF207 V324I RNF212_ENST00000333673 R88Q RNF213 A2472T RNF213 C497W RNF213 D2513G RNF213 D80N RNF213 F144L RNF213 F144S RNF213 K499E RNF213 S1184R RNF213 S407N RNF213 T1336M RNF213 V2874I RNF213_ENST00000319921 A531V RNF213_ENST00000411702 A4448T RNF213_ENST00000411702 A580V RNF213_ENST00000411702 C2473W RNF213_ENST00000411702 D2056N RNF213_ENST00000411702 D4489G RNF213_ENST00000411702 F2120L RNF213_ENST00000411702 F2120S RNF213_ENST00000411702 K2475E RNF213_ENST00000411702 S2383N RNF213_ENST00000411702 S3160R RNF213_ENST00000411702 T3312M RNF213_ENST00000456466 A531V RNF214 K224N RNF215 T188A RNF216 F235L RNF216 R526H RNF216 R761G RNF217 R185H RNF219 K97N RNF219 Q399R RNF219 R235C RNF25 R258Q RNF25 R367H RNF38 A174G RNF38 Q254L RNF38 R365Q RNF41 T264A RNF43 S216L RNF43 S607L RNF44 P91S RNF8 F485L RNF8 K283N RNF8_ENST00000469731 K283N RNPC3 A70S RNPS1 R66C ROBO1 R1387C ROBO1_ENST00000305299 G208A ROBO1_ENST00000305299 P1484R ROBO1_ENST00000305299 R1387C ROBO1_ENST00000305299 V146F ROBO1_ENST00000305299 V331L ROBO1_ENST00000464233 A933V ROBO1_ENST00000464233 R1387C ROBO1_ENST00000495273 R1342C ROBO2 P765A ROBO2 Q569K ROBO2 R950H ROBO2 S450R ROBO2 T48M ROBO2 V310I ROBO2 V42I ROBO2 W870R ROBO2_ENST00000487694 P781A ROBO2_ENST00000487694 S466R ROBO2_ENST00000487694 T64M ROBO2_ENST00000487694 V58I ROBO4 R606C ROCK1_ENST00000399799 E270K ROCK2 D854V ROCK2 L1183F ROCK2 R339Q ROCK2_ENST00000315872 L1183F ROCK2_ENST00000315872 R339Q ROD1 S123I ROR1 F150L ROR1 G590R ROR1 R567G ROR1 T69M ROR2 D51E ROR2 D672N ROR2 G326V ROR2 P799S ROR2 P839L ROR2 R735Q ROR2 V542A RORA E14G RORA_ENST00000309157 E14G RORB_ENST00000376896 S160F ROS1 A1043S ROS1 F2138L ROS1 F2138S ROS1 I1399V ROS1 L933R ROS1 N1495S ROS1 N2234K ROS1 V1666I ROS1 Y1712S ROS1_ENST00000368508 A1043S ROS1_ENST00000368508 F2138L ROS1_ENST00000368508 N1495S ROS1_ENST00000368508 N2234K RP1 A135T RP1 A405T RP1 Q327K RP1 R87W RP1 S1975I RP1-21O18_1 R384C RP11-368J21.2 A521P RP11-368J21.2 K531N RP11-368J21.2_ENST00000424340 A521P RP11-368J21.2_ENST00000424340 K531N RP11-57A19.3 E286K RP11-57A19.3 T285P RP11-57A19.3_ENST00000532254 E286K RP11-57A19.3_ENST00000532254 T285P RP11-671M22.1 R443Q RP11-671M22.1_ENST00000510439 R443Q RP11-82O18.1 L290F RP11-82O18.1_ENST00000360151 L290F RP13-395E19.1 L426P RP13-996F3.4 E151Q RP13-996F3.4_ENST00000557886 E151Q RP1L1 G1809R RP1L1 G2285R RP1L1 Q2017H RP1L1 V1405I RP3-402G11_5 T318M RP9 P72R RPA1 R412H RPA1 R91S RPA3 G51R RPAP3 E9K RPAP3 L408R RPE65 N205S RPE65 V99I RPGRIP1 A19V RPGRIP1 E16K RPGRIP1 I892T RPGRIP1 Q260R RPGRIP1L G103V RPGRIP1L R1150W RPGRIP1_ENST00000400017 A403V RPGRIP1_ENST00000400017 E400K RPGRIP1_ENST00000400017 I1276T RPGRIP1_ENST00000400017 Q644R RPH3A A63D RPH3A C140R RPH3A R234C RPH3A R246Q RPL10L K156R RPL10L K187T RPL10L R162S RPL11 I125M RPL22L1 M1I RPL35A A48T RPL37A H56R RPL5 V125A RPL6 F193C RPL8 G153S RPN1 R263C RPN2 V567A RPP14 L111I RPP38 R10Q RPRD1A D146N RPS13 R99G RPS14 R84G RPS15 G129V RPS15 P73S RPS18 Y77C RPS19 A70V RPS2 R200G RPS6 R191C RPS6KA1_ENST00000531382 V49I RPS6KA2 E311K RPS6KA2 T222M RPS6KA2_ENST00000503859 T230M RPS6KA3 I416T RPS6KA3 I416V RPS6KA3 L381P RPS6KA3 R158H RPS6KA3 Y483C RPS6KA5 E166K RPS6KA5 R627Q RPS6KA5_ENST00000261991 E166K RPS6KA5_ENST00000261991 R627Q RPS6KA6 S258P RPS6KA6 S258T RPS6KB1 G289E RPS6KB2 R329W RPS6KB2 S356G RPS6KB2_ENST00000312629 R329W RPS6KC1 C1003Y RPS6KC1 E1022G RPS6KC1 E1022K RPS6KC1 G410S RPS9 L25H RPSAP58 Q111E RPSAP58_ENST00000496398 Q111E RPTN G296S RPTN P526T RPTN R154G RPTOR A666S RPTOR R813I RRAD A278E RRAGD R361W RRAS2 G24D RRAS2 Q72H RRAS2 Q72L RRAS2 V202A RRBP1 A255V RRBP1 E528Q RRBP1 E851K RRBP1_ENST00000377813 E1284K RRBP1_ENST00000377813 E961Q RREB1 G1384R RREB1 P1500L RREB1 P275L RREB1 R756L RREB1_ENST00000379938 G1439R RREB1_ENST00000379938 P275L RRH R302Q RRM2B F323L RRM2B S25G RRN3 E288K RRN3 P11S RRN3 R9C RRNAD1 R194C RRNAD1 R405H RRP12 D616N RRP12 E1174K RRP15 L214F RRP1B Q80H RRP7A N65S RRP9 K44R RS1 R191Q RS1 R3H RSAD2 R81H RSBN1L A777V RSBN1L L432V RSF1 S250G RSPH10B R92H RSPH10B2 R61H RSPH3 E390K RSPH4A R354H RSPO2 C141F RSPO2 G148C RSPO2 G148S RSPO2 R194G RSPO2 R28C RSPRY1 I522V RSRC2 S165L RSU1 D166G RSU1 N16D RTCD1 K339N RTCD1 S54F RTEL1 A301T RTKN2 R127C RTL1 E942K RTL1 R1242C RTL1 R936H RTN1 A423V RTN1 A577T RTN2 V377M RTN3 A989T RTN4 S642Y RTN4RL1 A263T RTN4RL2 A13T RTN4_ENST00000337526 S848Y RTP1 A220V RTP1 S226P RTP1 V123A RTP2 G193D RTP3 K94T RTP3 L33P RTTN A607P RTTN E437D RTTN Q231H RUFY1 L348P RUFY1 L348V RUFY1 T227A RUFY1_ENST00000319449 L456P RUFY1_ENST00000319449 T335A RUNDC2B I114N RUNDC2B M128V RUNX1 A149T RUNX1 D198G RUNX1 D198N RUNX1 D198V RUNX1 D75Y RUNX1 G165C RUNX1 G165D RUNX1 G165S RUNX1 G165V RUNX1 G168R RUNX1 G170R RUNX1 G199A RUNX1 G199R RUNX1 G69R RUNX1 H85N RUNX1 I177T RUNX1 K110N RUNX1 K110R RUNX1 L144P RUNX1 L175P RUNX1 L56S RUNX1 N146S RUNX1 N96S RUNX1 P113L RUNX1 R107C RUNX1 R107H RUNX1 R162G RUNX1 R162K RUNX1 R166G RUNX1 R166P RUNX1 R166Q RUNX1 R201Q RUNX1 R204Q RUNX1 R232W RUNX1 R320Q RUNX1 S141L RUNX1 S141P RUNX1 S167R RUNX1 V132L RUNX1 W106C RUNX1 Y281H RUNX1T1 A434V RUNX1T1 E201K RUNX1T1 R349L RUNX1T1 R349Q RUNX1T1 R349W RUNX1T1 R357W RUNX1T1 R483H RUNX1T1 R91S RUNX1T1_ENST00000265814 E238K RUNX1T1_ENST00000265814 R128S RUNX1T1_ENST00000265814 R386L RUNX1T1_ENST00000265814 R386Q RUNX1T1_ENST00000265814 R394W RUNX1T1_ENST00000265814 R520H RUNX1T1_ENST00000436581 R139S RUNX1T1_ENST00000436581 R397L RUNX1T1_ENST00000436581 R397Q RUNX1T1_ENST00000436581 R405W RUNX2 G411S RUSC1 Q221H RUVBL1 E431K RUVBL1 R117C RWDD2B R254H RWDD4 L100S RXFP1 E255K RXFP1 S269F RXFP2 N306K RXFP3 A356V RXFP3 R113C RXFP3 R81W RXFP3 V387I RXRA P231L RXRA S427F RXRG R176W RYR1 A1449V RYR1 A4040T RYR1 D4062Y RYR1 G2434R RYR1 R1015C RYR1 R1072H RYR1 R1827H RYR1 R1974W RYR1 R2084Q RYR1 R2435C RYR1 R4645Q RYR1 R830W RYR1 T4882M RYR2 A1490V RYR2 A266T RYR2 A4216V RYR2 G2459E RYR2 G3894W RYR2 G4181R RYR2 I4094V RYR2 K1745E RYR2 L730P RYR2 L748R RYR2 P4231T RYR2 R1100W RYR2 R1303H RYR2 R1482C RYR2 R1585H RYR2 R1919W RYR2 R2090W RYR2 R2127L RYR2 R2198H RYR2 R3260W RYR2 R3604Q RYR2 R3660I RYR2 S4006C RYR2 T2832A RYR2 V3045A RYR2 V3505E RYR2 V613A RYR3 A4127V RYR3 D4710N RYR3 D707G RYR3 D947N RYR3 E1701K RYR3 E663K RYR3 E826K RYR3 F3738L RYR3 G3329E RYR3 I191T RYR3 K2897E RYR3 L1203I RYR3 M1159I RYR3 P1670T RYR3 R2298S RYR3 R2705Q RYR3 R402C RYR3 R593W RYR3 R756H RYR3 R895L RYR3 V1909G RYR3 V2076M S100A2 N87D S100A2 N87S S100A7 K68N S100A7A A84T S100A8 K49R S100A9 S6L S100B F44L S1PR1 A267T S1PR1 D356Y S1PR1 F52L S1PR1 S44G S1PR3 A325T S1PR3 V285M S1PR4 A296V S1PR4 R228C S1PR5 V198M SAA2 K102E SAA2 R108K SACM1L D488N SACM1L F131S SACS A2411V SACS D3779N SACS E871G SACS E912Q SACS F4285L SACS K2607N SACS L3989R SACS M1648I SACS Q2182R SACS R2759Q SACS R3272H SACS R3641C SACS_ENST00000382298 E1018G SACS_ENST00000382298 K2754N SACS_ENST00000382298 L4136R SACS_ENST00000382298 R2906Q SACS_ENST00000382298 R3419H SAFB V144A SAFB V144I SAFB V487A SAGE1 H298Q SAGE1 R229C SAG_ENST00000409110 A352T SALL1 E83K SALL1 E859G SALL1 P577T SALL1 R498C SALL1 T1279K SALL1 T745M SALL1 V226I SALL2 A41T SALL2 P719S SALL3 R1285H SALL4 L712P SAMD3 Q206H SAMD4A A341T SAMD4B I668L SAMD7 R67L SAMD7 R67W SAMD9 G945E SAMD9 K1096R SAMD9 L440F SAMD9 L544I SAMD9 S702Y SAMD9L D54G SAMD9L K1158R SAMD9L L1310S SAMD9L R1107H SAMHD1 A441T SAMHD1 V133I SAMSN1 R31Q SARDH A364T SARDH R432C SART3 R623H SASH1 R723Q SATB1 D715N SATB1 E505K SATB1 N572S SATB2 A314T SATB2 P548L SBF1 V1359G SBF2 A1829T SBNO1 E888K SBNO1 I333L SBNO1 L294P SBNO1 P967L SBNO1 S996C SBNO1 S996P SBNO1 T633I SBNO1 T633S SBSN G154W SBSN_ENST00000452271 G497W SC5DL G252S SC5DL V120A SCAF1 E284D SCAF11 T602A SCAF4 D1062Y SCAF4 F50L SCAI K91R SCAI N503K SCAI Q155H SCAI R278H SCAI R581L SCAI R581Q SCAMP5_ENST00000361900 P83L SCAND3 S444R SCAP H196Y SCAPER K571E SCAPER Q793L SCAPER R701Q SCARA5 R43W SCARB1 M153V SCARF1 A425V SCCPDH S84L SCCPDH T67A SCD5 W97R SCD5_ENST00000273908 W97R SCEL D236Y SCEL R49H SCFD2 R545W SCG2 R284C SCGB1C1 C16Y SCGB1C1 E47D SCGN R135Q SCHIP1 K362N SCHIP1 S319N SCIN H61R SCIN P303S SCIN_ENST00000297029 H61R SCIN_ENST00000297029 P303S SCLT1 A582V SCLT1 E362G SCLT1 V91A SCLT1_ENST00000281142 A582V SCLT1_ENST00000281142 E362G SCLT1_ENST00000281142 V91A SCLY A223T SCLY R250C SCMH1 S321N SCMH1_ENST00000337495 S378N SCML1 R25H SCML4 R165Q SCN10A A856S SCN10A E825D SCN10A K1448T SCN10A R1268W SCN10A R302L SCN10A R478H SCN10A R498W SCN10A R534Q SCN10A R844H SCN10A R916W SCN10A T1570M SCN11A A1157V SCN11A A1652T SCN11A A1688T SCN11A A842V SCN11A K303N SCN11A R1421S SCN11A R248C SCN11A R370H SCN11A R747W SCN11A R763H SCN11A T1690N SCN11A V1289I SCN11A V566I SCN1A E694K SCN1A L258M SCN1A M447I SCN1A M923I SCN1A R1585C SCN1A R1922Q SCN1A S1445N SCN1A S1907P SCN1A_ENST00000303395 R1596C SCN1A_ENST00000303395 S1456N SCN1A_ENST00000303395 S1918P SCN2A E1373D SCN2A E498K SCN2A E518G SCN2A K809E SCN2A M778V SCN2A N1208Y SCN2A Q452R SCN2A Q461R SCN2A R15C SCN2A R36K SCN2A S576I SCN2A T155K SCN2A_ENST00000375437 E518G SCN2A_ENST00000375437 K809E SCN2A_ENST00000375437 M778V SCN2A_ENST00000375437 Q452R SCN2A_ENST00000375437 Q461R SCN2A_ENST00000375437 R36K SCN2A_ENST00000375437 S576I SCN2A_ENST00000375437 T155K SCN2B R137H SCN3A D1803N SCN3A E946G SCN3A K1476N SCN3A R1621L SCN3A R378Q SCN3A V1432A SCN3A_ENST00000409101 E897G SCN3A_ENST00000409101 K1427N SCN3A_ENST00000409101 R1572L SCN3A_ENST00000409101 V1383A SCN3B L10P SCN3B R132W SCN4A D1514N SCN4A R18H SCN4A R675W SCN4A T1192A SCN4A V1414I SCN4B E48D SCN5A A110T SCN5A Q998H SCN5A R1193W SCN5A R1195H SCN5A R1512W SCN5A R1929H SCN5A_ENST00000333535 Q998H SCN5A_ENST00000413689 Q998H SCN7A D1576N SCN7A R209I SCN7A R282I SCN7A R903H SCN7A T433A SCN7A_ENST00000409855 D1576N SCN7A_ENST00000409855 R209I SCN7A_ENST00000409855 R282I SCN7A_ENST00000409855 R903H SCN7A_ENST00000409855 T433A SCN8A R1866W SCN8A V671G SCN8A_ENST00000354534 R1866W SCN8A_ENST00000354534 V671G SCN8A_ENST00000354534 V755A SCN9A N365S SCN9A R277Q SCN9A R598H SCN9A T1342A SCN9A V195I SCNN1B Q15E SCNN1B R156W SCNN1G H280R SCO2 R171W SCO2_ENST00000543927 R171W SCRIB S700F SCRN1 P48L SCRN2 R189H SCRN2 R250W SCTR D196N SCUBE1 E509D SCUBE1 E509G SCUBE1 V263M SCUBE2 A891T SCUBE2 L22P SCUBE2 R110H SCUBE2 V342M SCUBE3 R139Q SCYL1 H495Y SCYL2 G355R SCYL2 Q715H SCYL2 Q859H SCYL2 Q859R SCYL2 R505H SCYL2 V749A SCYL3 Q567R SCYL3 R61C SCYL3_ENST00000367772 R61C SDAD1 N396S SDAD1 V269A SDC1 H154R SDC2 E125K SDC3 R410H SDCBP2 R106Q SDCBP2 R106W SDCBP2_ENST00000360779 R191W SDCBP2_ENST00000381812 R191W SDHA E240Q SDHAF2 L16P SDHAF2 R154C SDK1 A164D SDK1 E1302K SDK1 G1013S SDK1 R1969Q SDK1 R2069H SDK1 T1181M SDK1 V543I SDK2 P990T SDK2 T611M SDR9C7 R188H SDR9C7 R240C SDS A207T SDSL A127V SEC14L1 R168H SEC14L1 T192A SEC14L2 H280N SEC14L3 M333V SEC14L4 E332D SEC14L5 P489S SEC14L5 R187H SEC14L5 R563L SEC23A L637P SEC23A L743H SEC23A T379A SEC23B A2V SEC23B E109K SEC23IP G770R SEC23IP K746E SEC23IP R947Q SEC23IP S740P SEC24C K1057R SEC31A_ENST00000395310 E44Q SEC31A_ENST00000395310 M11I SEC31A_ENST00000395310 R254C SEC31A_ENST00000395310 R594S SEC31A_ENST00000432794 E44Q SEC31A_ENST00000432794 M11I SEC31A_ENST00000432794 R254C SEC31A_ENST00000432794 R594S SEC31B A1169S SEC31B R1134Q SECISBP2 K15R SECISBP2 K732E SECISBP2 Q110R SECISBP2L G917S SECISBP2L I50V SECISBP2L T478N SECISBP2L V966A SEL1L S421L SEL1L2 T267A SELE L7I SELE V84A SELP R63C SELPLG A332V SELPLG T147M SELPLG_ENST00000550948 A342V SELPLG_ENST00000550948 T157M SEMA3A A131T SEMA3A D81N SEMA3A R613Q SEMA3B_ENST00000316347 R347C SEMA3C E220K SEMA3D R572H SEMA3D R760Q SEMA3D T646M SEMA3D V453L SEMA3D Y551H SEMA3F R477C SEMA4A_ENST00000368285 R363C SEMA4D A130T SEMA4D P718S SEMA4D R252Q SEMA4F G168R SEMA4G E157Q SEMA5A A20T SEMA5A R493C SEMA5B A674V SEMA5B R273S SEMA5B R404H SEMA5B_ENST00000451055 A728V SEMA5B_ENST00000451055 R327S SEMA5B_ENST00000451055 R458H SEMA7A R261H SEMG1 R372S SEMG1 S64F SEMG2 R292H SENP1_ENST00000448372 D468Y SENP5 H373Y SENP5 R265Q SENP6 E281G SENP6 E281K SENP6 P783H SENP6 T297I SENP6_ENST00000447266 E281G SENP6_ENST00000447266 P783H SENP6_ENST00000447266 T297I SENP7 S761L SEPHS1 R362H SEPHS1 R371Q SEPHS1_ENST00000327347 R362H SEPHS2 G396R SEPP1 K181R SEPSECS R386Q SEPSECS_ENST00000382103 D47G SEPSECS_ENST00000382103 R465Q SEPT10 G160D SEPT10_ENST00000397712 G183D SEPT14 R157H SEPT14 R25C SEPT2 T186A SEPT4 R173Q SEPT6 K381R SEPT6 S190L SERINC1 V79A SERINC5 E70Q SERINC5_ENST00000507668 E70Q SERP2 W40C SERPINA10 E30K SERPINA10 E64K SERPINA10 L181F SERPINA12 A342T SERPINA12 L112P SERPINA12 N52D SERPINA12 Q142R SERPINA3 S302P SERPINA4 F321L SERPINA4 R300M SERPINA4 V205F SERPINA5 H23Q SERPINA6 R282L SERPINA6 R282Q SERPINA7 S373L SERPINA9 N185S SERPINA9 R75L SERPINA9_ENST00000337425 M414V SERPINA9_ENST00000337425 N185S SERPINA9_ENST00000337425 R75L SERPINB10 S3A SERPINB10 T119A SERPINB11 G2C SERPINB11_ENST00000544088 G2C SERPINB13 R145Q SERPINB13 V7I SERPINB3 T112A SERPINB4 F28L SERPINB5 D76N SERPINB5 M307T SERPINB5 M307V SERPINB7 G24R SERPINB9 E141D SERPINE1 A119V SERPINE1 L211H SERPINE2 K204N SERPINE2 R382Q SERPINE2 V114A SERPINE2 V114M SERPINE2_ENST00000447280 R393Q SERPINE2_ENST00000447280 V126A SERPINF1 A96V SERPINF2 E259K SERPING1 A46T SERPINI1 Y218C SERPINI2 L174V SERTAD3 R43C SERTAD4 K80R SERTAD4 R63G SERTAD4 S16L SESN2 P234S SESN3 R98C SESTD1 E656K SESTD1 P54S SESTD1 R268C SETBP1 D358Y SETBP1 E312K SETBP1 G816S SETBP1 R476Q SETBP1 R673L SETBP1_ENST00000282030 D412Y SETBP1_ENST00000282030 E366K SETBP1_ENST00000282030 G870S SETBP1_ENST00000282030 R530Q SETBP1_ENST00000282030 R727L SETD1A Y370C SETD1B_ENST00000267197 P7H SETD2 C1128Y SETD2 C998R SETD2 C998Y SETD2 D1113G SETD2 D1113N SETD2 D1113Y SETD2 E480G SETD2 G756V SETD2 H1126Y SETD2 R819Q SETD2 Y1673H SETD2_ENST00000409792 C1501R SETD2_ENST00000409792 C1501Y SETD2_ENST00000409792 D1616G SETD2_ENST00000409792 D1616Y SETD2_ENST00000409792 E983G SETD2_ENST00000409792 H1629Y SETD2_ENST00000409792 R1322Q SETD2_ENST00000409792 Y2176H SETD3 P498L SETD4 R90Q SETD5 E102K SETD5_ENST00000402198 E200K SETD7 A154T SETD7 D306N SETD7 T203S SETDB1 E124G SETDB1_ENST00000271640 E124G SETDB1_ENST00000271640 R923W SETX G1466C SETX R2287Q SEZ6L S207L SEZ6L V780M SEZ6L2 D518N SF1 E28G SF1 G181R SF1 G443D SF1 R102H SF1 R255Q SF1_ENST00000334944 E28G SF3A1 G478V SF3A1 R511W SF3A2 H373P SF3B1 A745P SF3B1 D586H SF3B1 D781G SF3B1 D894G SF3B1 E592K SF3B1 E622D SF3B1 E622V SF3B1 E862K SF3B1 G740E SF3B1 G742D SF3B1 H662D SF3B1 H662Q SF3B1 H662Y SF3B1 I704F SF3B1 I704N SF3B1 K666E SF3B1 K666M SF3B1 K666N SF3B1 K666Q SF3B1 K666R SF3B1 K666T SF3B1 K700E SF3B1 K741N SF3B1 N626D SF3B1 N626I SF3B1 N626S SF3B1 N626Y SF3B1 Q534P SF3B1 R1041H SF3B1 R625C SF3B1 R625G SF3B1 R625H SF3B1 R625L SF3B1 R625P SF3B1 R831Q SF3B1 T663I SF3B1 V701F SF3B1 Y623C SF3B2 A774V SF3B2 E832K SF3B2 T599A SF3B3 R463L SF3B3 S375P SF3B4 R374C SFMBT1 S412Y SFMBT2 A320V SFMBT2 R617W SFMBT2 R691W SFMBT2 S321L SFPQ E489K SFPQ R611Q SFRP1_ENST00000220772 V77L SFRP2 A255T SFRP2 D209H SFRP2 V259A SFRP4 R172C SFRP4 R232Q SFSWAP S617Y SFTPB L178P SFXN2 V206G SFXN3 R95H SG269_HUMAN E740K SG269_HUMAN H611N SG269_HUMAN H611R SG269_HUMAN H611Y SG269_HUMAN S1198N SGCA T27M SGCD A169V SGCD C282F SGCD R11Q SGCG A220V SGCG R79H SGCZ G95C SGCZ I41M SGCZ T23P SGIP1 A277D SGIP1 G544D SGIP1 I282S SGIP1 Q761K SGIP1_ENST00000371039 Q564K SGK1 K152E SGK1 P73S SGK1 P77S SGK1_ENST00000367857 K142E SGK1_ENST00000367858 K247E SGK1_ENST00000367858 P168S SGK1_ENST00000367858 P172S SGK1_ENST00000413996 K166E SGK1_ENST00000528577 K180E SGK2 E304K SGK3 H139R SGK3_ENST00000262211 H206R SGMS1 L60R SGMS2 H218Q SGPP1 P351S SGPP1 R403Q SGPP1 S315F SGPP2 R339C SGPP2 V81M SGSH P288L SGSH V220A SGSM1 F1062L SGSM3 E304G SGSM3 E304K SGSM3 R655H SH2B3 A215V SH2B3 D234N SH2D3A E265G SH2D3C N554I SH2D4B D12N SH2D4B I123T SH2D4B S64T SH2D6 S13P SH3D21 P308L SH3D21_ENST00000453908 P662L SH3GL1 R184C SH3GL2 E19V SH3GL2 G287A SH3GL2 P179L SH3GL3 T97M SH3KBP1 A569V SH3PXD2A A1053T SH3PXD2A R572W SH3PXD2B A377T SH3PXD2B V559M SH3RF1 E345K SH3RF3 R379C SH3RF3 T388M SH3TC2 E1232K SH3TC2 R272C SH3TC2 R89C SH3TC2_ENST00000394358 R157C SH3YL1 Y118C SHANK1 A845E SHANK1 D2102N SHANK1 E1819Q SHANK1 G587R SHANK1 R231Q SHANK2 K43E SHANK2 T683M SHANK2_ENST00000338508 K632E SHANK2_ENST00000338508 T1279M SHANK3_ENST00000262795 R181H SHB Y272C SHC2 G884C SHC2 P890H SHC2 V815M SHC3 P422T SHC4 P115S SHC4 S162L SHCBP1L E316K SHCBP1L R371H SHCBP1L V447A SHD A248V SHD N270S SHH F30V SHISA2 C207F SHMT2 E191G SHOC2 E100D SHOC2 K416N SHOX2 V57A SHPRH M710V SHPRH R776H SHQ1 R269S SHROOM2 D1245G SHROOM2 R1259H SHROOM4 G531V SHROOM4 K1129Q SHROOM4 R242C SI D1193N SI K206R SI R248I SI R250C SI R91T SI T1680I SI W1493C SIAH2 G286S SIDT1 E781K SIDT1 G474A SIDT1 M221I SIDT1 S84I SIDT2 A644S SIDT2 R710C SIDT2 V757M SIGIRR I100M SIGLEC1 R662C SIGLEC1 R929H SIGLEC1 V1045G SIGLEC1 V196I SIGLEC10 A388D SIGLEC10 R119W SIGLEC11 A147V SIGLEC11 G628C SIGLEC11 S145N SIGLEC11 S363F SIGLEC12 T89A SIGLEC12_ENST00000439889 A330D SIGLEC12_ENST00000439889 R119W SIGLEC14 Q218P SIGLEC14 T181M SIGLEC16 N133S SIGLEC16 V132L SIGLEC16 W65R SIGLEC6 V36I SIGLEC6_ENST00000425629 V47I SIGLEC8 E496K SIGLEC8 L375P SIGLEC8 R240H SIGLEC9 P235L SIGLEC9 R81W SIGLEC9 T76K SIK1 L68S SIK2 A635V SIK2 F166L SIK2 G497E SIK2 I595T SIK3 R666C SIL1 R111Q SIM1 E579G SIM1 E725K SIM1 S31L SIN3A A126V SIN3A K440N SIN3A Q422R SIN3A R1205H SIN3B F72L SIPA1L1 G987V SIPA1L1 R1063Q SIPA1L1 S1227Y SIPA1L2 D1115N SIPA1L3 A1088T SIRPA G75A SIRPA V230M SIRPA V233I SIRPA V302A SIRPB1 S299L SIRPD R133W SIRPD V180I SIRT2 V233I SIRT4 R156C SIRT6 G8E SIRT7 R348C SIX1 G259S SIX1 R64H SIX4 E723D SIX6 R68S SK681 F1105L SKAP1 D69H SKAP1 R163W SKAP1 R169Q SKAP2 R126C SKAP2 V240I SKI A510T SKIL T258A SKIP R187C SKIV2L M765V SKIV2L2 R200H SKIV2L2 V729A SKIV2L_ENST00000375394 M765V SKOR1 E830K SKOR1 G115C SLA R133C SLA R44H SLAMF1 R130H SLAMF6 N270S SLAMF7 Q64R SLAMF7 T144N SLAMF9 S157P SLA_ENST00000427060 R173C SLC10A2 T257M SLC10A3 D280N SLC10A3 G456S SLC11A1 V115M SLC12A1 S292L SLC12A2 R410Q SLC12A2 R878C SLC12A2 W714L SLC12A3 R243W SLC12A4 L158F SLC12A5 D280N SLC12A5 R777H SLC12A5 R780C SLC12A5 S376L SLC12A5 V114A SLC12A5 V114I SLC12A6 D929G SLC12A6 R329H SLC12A6_ENST00000558589 D971G SLC12A6_ENST00000558589 R371H SLC12A9 A544P SLC13A2 G92R SLC13A2 L335I SLC13A2 T200M SLC13A2_ENST00000444914 G141R SLC13A2_ENST00000444914 T249M SLC14A1 A118V SLC14A1 A183V SLC14A1 S225Y SLC14A1_ENST00000436407 A174V SLC14A1_ENST00000436407 A239V SLC14A1_ENST00000436407 S281Y SLC14A2 A880T SLC14A2 P885Q SLC15A1 E677D SLC15A2 S190F SLC15A3 I533T SLC15A3 V187G SLC16A1 C98R SLC16A1 G417E SLC16A12 A55T SLC16A2 C283Y SLC16A2 E582G SLC16A2 R445H SLC16A2 S107P SLC16A7 L181M SLC16A7 R312Q SLC16A7 Y271C SLC17A3 V392I SLC17A5 R364C SLC17A6 I427V SLC17A6 K469R SLC17A6 M98I SLC17A6 S23L SLC17A8 D524G SLC18A2 L462I SLC18A2 P272Q SLC18A3 D495Y SLC18A3 T117M SLC19A3 A119T SLC1A2 L175I SLC1A3 I465T SLC1A3 R226Q SLC1A3 R342W SLC1A3 R479W SLC1A3 R47W SLC1A6 D297N SLC1A6 P220L SLC1A6 R84H SLC1A6 T421M SLC1A6 V20G SLC1A6 V365I SLC1A7 R87C SLC20A1 K640N SLC20A1 R648C SLC20A2 V421M SLC20A2 W518C SLC22A1 A306T SLC22A10 F504L SLC22A10 R434C SLC22A10 S81P SLC22A11 A59V SLC22A12 E458K SLC22A12 T104M SLC22A13 S32P SLC22A14 K165N SLC22A14 R322W SLC22A15_ENST00000369503 S201L SLC22A17 P64L SLC22A20 M146I SLC22A23 G401S SLC22A23_ENST00000406686 G682S SLC22A25 I75T SLC22A3 V388M SLC22A4 A460V SLC22A5 S362L SLC22A6 R331C SLC22A8 R50C SLC22A9 M487I SLC22A9 N521S SLC23A3 E487K SLC24A1 A1060V SLC24A2 A134V SLC24A3 G273R SLC24A3 R82Q SLC24A3 R82W SLC24A3 T269A SLC24A4 F138I SLC24A4 S482N SLC24A4 V422I SLC24A5 I181V SLC25A12 E81K SLC25A13 N412S SLC25A13 P126S SLC25A13 R191C SLC25A14 R135C SLC25A15 A147T SLC25A17 H49L SLC25A19 R116W SLC25A2 A15V SLC25A2 D31N SLC25A31 A39V SLC25A32 G276S SLC25A32 Q83E SLC25A40 R96Q SLC25A44 Q264R SLC25A47 G87S SLC25A47 R267Q SLC25A47 T62M SLC25A5 G158S SLC25A5 R31W SLC26A1 T268M SLC26A11 P182L SLC26A3 S46F SLC26A3 V340I SLC26A4 A437V SLC26A4 G221V SLC26A4 G707R SLC26A4 L251I SLC26A4 V212L SLC26A5 E30G SLC26A5 Y578C SLC26A5_ENST00000339444 Y578C SLC26A6 A483S SLC26A7 E626D SLC26A7_ENST00000309536 E626D SLC26A8 R63H SLC26A8 R63L SLC26A9 S218L SLC26A9_ENST00000367134 S218L SLC27A2 D175G SLC27A2 R523C SLC27A3 T604K SLC27A6 A246E SLC28A1 R147C SLC28A2 A359T SLC28A2 K125R SLC28A2 S64G SLC28A2 S64N SLC28A2 V284A SLC29A4 D64N SLC2A1 F445L SLC2A1 R232C SLC2A10 G491D SLC2A11 R345H SLC2A13 P410L SLC2A13 Y436H SLC2A13_ENST00000280871 Y455H SLC2A14 F388S SLC2A14 G106R SLC2A14 R115H SLC2A14 S446P SLC2A14 T247M SLC2A2 A313T SLC2A2 S491F SLC2A3 A423T SLC2A3 E391K SLC2A3 G132V SLC2A3 P8S SLC2A3 S363G SLC2A5 P496T SLC2A6 A230D SLC2A7 A151T SLC2A7 A65T SLC2A7 E58K SLC2A9 G332V SLC2A9_ENST00000264784 G361V SLC30A3 V166I SLC30A3 V82I SLC30A4 R322Q SLC30A5 L423F SLC30A5 R683C SLC30A6 H356R SLC30A6 P360L SLC30A8 A187V SLC30A8 A64V SLC30A8 L315I SLC30A8 P31Q SLC30A8 V181I SLC30A8 V330A SLC30A9 R194H SLC32A1 A495T SLC32A1 Q332H SLC33A1 N282S SLC33A1 S542L SLC34A3 E513V SLC35A5 P381L SLC35A5 S288G SLC35B3 S341L SLC35B3 W113L SLC35C2 S111L SLC35D3 V288M SLC35E1 V175I SLC35F3 A280T SLC35F4_ENST00000339762 E48K SLC35F5 V48L SLC36A2 G317V SLC37A1 P245L SLC37A1 W491C SLC37A2 A434T SLC37A2 D341N SLC37A2 M376V SLC37A3 E260K SLC38A1 G419E SLC38A11 L99P SLC38A2 L344P SLC38A4 R292H SLC38A5 I404T SLC38A5_ENST00000376876 I404T SLC38A6 G62D SLC38A6 L418H SLC39A10 K8T SLC39A10 L736P SLC39A10 R177H SLC39A12 C591S SLC39A12 H284N SLC39A14 T197M SLC39A5 G293R SLC39A6 P158S SLC39A7 R382C SLC39A8 K160N SLC3A1 G487E SLC40A1 R371W SLC41A1 A194V SLC41A2 T91A SLC41A2_ENST00000258538 T174A SLC43A1 P133L SLC43A3 R203H SLC44A1 A132T SLC44A1 R437C SLC44A1 V258L SLC44A2 N389S SLC44A4 P403L SLC44A4 V464I SLC44A5 F584V SLC44A5 K198N SLC44A5 R146H SLC44A5_ENST00000370859 F584V SLC45A2 G399C SLC45A2 M342T SLC45A2 R348H SLC45A2 T403M SLC45A3 R272C SLC45A3 S73L SLC46A3 E63D SLC47A1 A193S SLC47A1 N485I SLC47A1 R333Q SLC47A1 T75M SLC4A1 M11T SLC4A1 M11V SLC4A10 E133K SLC4A10 K901E SLC4A10 K901R SLC4A10 P690L SLC4A10 Q220E SLC4A10 R380C SLC4A10 R769L SLC4A10 S585C SLC4A10 T897A SLC4A10_ENST00000446997 E133K SLC4A10_ENST00000446997 E306D SLC4A10_ENST00000446997 K931E SLC4A10_ENST00000446997 K931R SLC4A10_ENST00000446997 T927A SLC4A11 A648V SLC4A11 V691G SLC4A11_ENST00000380059 V718G SLC4A1AP A538V SLC4A2 G1029S SLC4A3 A833D SLC4A3 R580L SLC4A4 K360N SLC4A4 L794F SLC4A4 R397W SLC4A4 R899C SLC4A4 V726I SLC4A4 V74L SLC4A4 W781L SLC4A4_ENST00000425175 K404N SLC4A4_ENST00000425175 R943C SLC4A4_ENST00000425175 V118L SLC4A4_ENST00000425175 W825L SLC4A5 P30T SLC4A5 R290W SLC4A7 P896L SLC4A8 N1041D SLC4A9 S663G SLC4A9_ENST00000230993 S663G SLC4A9_ENST00000506757 S639G SLC50A1 W175L SLC50A1 W175R SLC5A10 T98M SLC5A2 R130C SLC5A4 A287T SLC5A4 I162V SLC5A4 R140P SLC5A4 S402I SLC5A5 C629F SLC5A5 G561E SLC5A5 R376Q SLC5A5 R569W SLC5A7 E73K SLC5A7 G442V SLC5A7 V378I SLC5A8 R128C SLC5A9 R528H SLC6A1 V342M SLC6A11 P566L SLC6A12 P351L SLC6A12 R277C SLC6A15 A30S SLC6A15 A30T SLC6A15_ENST00000450363 A30S SLC6A16 G693R SLC6A18 T212P SLC6A18 V434I SLC6A19 A329T SLC6A2 A562T SLC6A2 R301H SLC6A2 S354C SLC6A2 T580M SLC6A2 W80C SLC6A2_ENST00000219833 A562T SLC6A2_ENST00000219833 R301H SLC6A2_ENST00000219833 S354C SLC6A2_ENST00000219833 T580M SLC6A3 L138P SLC6A4 R234C SLC6A5 K342N SLC6A5 L478S SLC6A5 Q473E SLC6A5 S410A SLC6A5 V519I SLC6A6 G124S SLC6A6 R427C SLC7A1 R16W SLC7A13 S368L SLC7A14 G721D SLC7A14 R547W SLC7A14 V63I SLC7A2 A348T SLC7A2_ENST00000470360 A388T SLC7A3 R600H SLC7A6 G210V SLC7A6 L332F SLC7A6 L332P SLC7A6 R348Q SLC7A7 P413S SLC7A9 A182V SLC7A9 S373L SLC7A9 V346I SLC8A1 C55R SLC8A1 K56T SLC8A1 L150P SLC8A1 R267L SLC8A1 R365H SLC8A1 R431H SLC8A1 V839M SLC8A2 E706D SLC8A3 A2V SLC8A3 A358T SLC8A3 E612G SLC8A3 R266H SLC9A1 A781T SLC9A1 A781V SLC9A1 R500W SLC9A10 E643K SLC9A10 G114S SLC9A10 M234V SLC9A10 R429C SLC9A10 V86I SLC9A11 L84H SLC9A11 M563I SLC9A11 P293L SLC9A11 R398Q SLC9A11 R738C SLC9A11 S974F SLC9A2 V383M SLC9A3R2 R171W SLC9A3R2 R219Q SLC9A3R2 R240W SLC9A3R2_ENST00000424542 R171W SLC9A3R2_ENST00000424542 R219Q SLC9A4 A108V SLC9A5 V546I SLC9A7 E152K SLC9A7 P189S SLC9A9 I589V SLC9A9 T128A SLCO1B1 A153P SLCO1B1 I97T SLCO1B1 K160E SLCO1B1 P484H SLCO1B1 P565H SLCO1B1 T345A SLCO1B1 W171C SLCO1B3 M647I SLCO1B3 M647V SLCO1B3 R580K SLCO1B7 D629N SLCO1B7 E27K SLCO1B7 V510M SLCO1C1 D219G SLCO1C1 E33K SLCO1C1 R197C SLCO1C1_ENST00000381552 D219G SLCO1C1_ENST00000381552 T662N SLCO2B1 P506L SLCO4A1 P631T SLCO4A1 T297M SLCO4A1 V263I SLCO4C1 L465R SLCO4C1 S468R SLCO4C1 V515A SLCO5A1 Q772H SLCO6A1 A25T SLCO6A1 G62A SLCO6A1 R60G SLCO6A1 R656C SLCO6A1 R656H SLCO6A1 R65Q SLFN11 R489L SLFN11 R732C SLFN12 E261Q SLFN12L Y414C SLFN12L Y549S SLFN12L_ENST00000361112 Y412C SLFN12L_ENST00000361112 Y547S SLFN12L_ENST00000449046 N421K SLFN12L_ENST00000449046 Y414C SLFN12L_ENST00000449046 Y549S SLFN13 K591R SLFN5 S115Y SLFNL1 E18K SLIT2 G1306C SLIT2 N775S SLIT2 P1261T SLIT2 R2C SLIT2 T791M SLIT2 V999I SLIT3 A1174T SLIT3 G1440S SLIT3 R115C SLIT3 R599H SLITRK1 D348Y SLITRK1 E242K SLITRK1 E296D SLITRK1 E296G SLITRK1 R52H SLITRK1 T560M SLITRK2 A412T SLITRK2 E37G SLITRK2 E528D SLITRK2 L91I SLITRK3 E813K SLITRK3 L19I SLITRK3 L211I SLITRK3 S298L SLITRK3 T832M SLITRK4 P343L SLITRK4 V206I SLITRK5 R95H SLITRK6 E795K SLITRK6 L12P SLITRK6 L95I SLITRK6 P362T SLITRK6 S720G SLK_ENST00000369755 E912G SLTM M299I SLX4 D414N SLX4 I854M SLX4 R1060Q SLX4 R1366H SLX4 R237W SLX4 T697M SLX4 V1284M SLX4 V241A SLX4 W800R SMAD2 R120Q SMAD2 R321Q SMAD2 T220M SMAD3 E178D SMAD3 P393L SMAD3 R268C SMAD3 R268H SMAD3 V331I SMAD4 A118V SMAD4 A39E SMAD4 A39T SMAD4 A406T SMAD4 C25Y SMAD4 C363Y SMAD4 C499Y SMAD4 C523W SMAD4 D351G SMAD4 D351H SMAD4 D355G SMAD4 D493A SMAD4 D494G SMAD4 D537E SMAD4 D537H SMAD4 D537Y SMAD4 E330A SMAD4 E330K SMAD4 E330Q SMAD4 E337G SMAD4 E526K SMAD4 F310L SMAD4 F408L SMAD4 G352R SMAD4 G386D SMAD4 G386R SMAD4 G386V SMAD4 G419V SMAD4 G510V SMAD4 G86V SMAD4 H132N SMAD4 H132R SMAD4 I527V SMAD4 K340E SMAD4 K507E SMAD4 K507Q SMAD4 K507R SMAD4 L23W SMAD4 L43F SMAD4 L43S SMAD4 L540R SMAD4 M331T SMAD4 N263S SMAD4 P130L SMAD4 P203L SMAD4 P356L SMAD4 P356R SMAD4 P356S SMAD4 Q334R SMAD4 Q516R SMAD4 R100G SMAD4 R100T SMAD4 R100W SMAD4 R361C SMAD4 R361G SMAD4 R361H SMAD4 R441C SMAD4 R441S SMAD4 R496H SMAD4 R497H SMAD4 R502G SMAD4 R531Q SMAD4 R531W SMAD4 S144L SMAD4 S343P SMAD4 S504G SMAD4 S504R SMAD4 V126A SMAD4 V128A SMAD4 V492F SMAD4 W509R SMAD4 Y353C SMAD9 D179Y SMAD9 R97C SMAD9_ENST00000379826 D179Y SMAD9_ENST00000379826 R97C SMAP2 Q77H SMAP2 S180P SMARCA1 R525H SMARCA1 R753C SMARCA2 D1205Y SMARCA2 T920I SMARCA2_ENST00000349721 D1205Y SMARCA2_ENST00000349721 T920I SMARCA4 A1186V SMARCA4 D1177E SMARCA4 D1351N SMARCA4 E821K SMARCA4 F1102L SMARCA4 G1232S SMARCA4 K687E SMARCA4 P1424L SMARCA4 R1135W SMARCA4 R1157W SMARCA4 R1243W SMARCA4 R381Q SMARCA4 R885C SMARCA4 R885H SMARCA4 R966W SMARCA4 S767F SMARCA4 S85L SMARCA4 T910M SMARCA4 W764R SMARCA4_ENST00000358026 A1186V SMARCA4_ENST00000358026 D1351N SMARCA4_ENST00000358026 R885C SMARCA4_ENST00000358026 R885H SMARCA4_ENST00000358026 R966W SMARCA4_ENST00000358026 S85L SMARCA4_ENST00000358026 T910M SMARCA5 E153K SMARCA5 R144C SMARCA5 R501Q SMARCAD1 E22K SMARCAD1 I519V SMARCAD1 V888D SMARCAL1 A355V SMARCAL1 F886L SMARCAL1 L432V SMARCAL1 R387C SMARCB1 A203T SMARCB1 R201L SMARCB1 R374Q SMARCB1 R377H SMARCB1 S49P SMARCB1_ENST00000344921 A212T SMARCB1_ENST00000344921 S49P SMARCC1 N643I SMARCC1 N643S SMARCC1 R499C SMARCC2 E614K SMARCC2 I901M SMARCD1 R144Q SMARCD3 D161H SMARCD3 D338N SMARCD3 R267H SMARCD3 R282G SMARCD3_ENST00000262188 R280H SMARCD3_ENST00000262188 R295G SMC1A R353W SMC1A R626H SMC1A R711W SMC1A R790Q SMC1B S482G SMC1B_ENST00000357450 S482G SMC2 E923G SMC2 K815R SMC2L1 E923G SMC2L1 K815R SMC3 E343G SMC3 G662C SMC3 L210P SMC3 Q1045L SMC3 T373M SMC4 D150G SMC4 S1056L SMC5 D957N SMC5 S792P SMC6 A292V SMC6 L912S SMC6 R387L SMCHD1 K904E SMCR7L R169Q SMEK1 Q348E SMEK1_ENST00000417249 M597I SMEK1_ENST00000417249 N764Y SMEK1_ENST00000417249 Q348E SMG1 A745T SMG1 D1761Y SMG1 E733G SMG1 K3579Q SMG1 K3579R SMG1 S2167P SMG1 T3565A SMG1 V1511M SMG1_ENST00000446231 E737G SMG1_ENST00000446231 K3583R SMG1_ENST00000446231 S2171P SMG1_ENST00000446231 V1515M SMG5 P549L SMG5 R254Q SMG5 R280Q SMG5 R821Q SMG7 C345R SMG7 L105F SMG7_ENST00000507469 C345R SMG7_ENST00000507469 L105F SMG8 P370S SMG8 R533Q SMO A324T SMO A601V SMO L412F SMO R199W SMO R290S SMO R562Q SMO R726Q SMO S533G SMO T640A SMO V404M SMO W535L SMOC1 R96C SMOC2 A45V SMPD1 A346V SMPD1_ENST00000342245 A346V SMPD3 C397Y SMPDL3B S295G SMPDL3B V44M SMPDL3B_ENST00000373888 S295G SMR3A R88I SMTN R53H SMTN T373P SMTN_ENST00000358743 T373P SMTN_ENST00000404496 R45H SMTN_ENST00000404496 T365P SMURF1 E375K SMURF2 R187H SMYD1 G181R SMYD4 V248I SMYD5 E207Q SMYD5_ENST00000389501 E323Q SNAI1 R215C SNAI2 G209V SNAI3 L198P SNAP25 S154R SNAP47 R39H SNAP47 V300M SNAP91 T277M SNAP91_ENST00000439399 T277M SNAPC1 Q188H SNAPC4 H799Q SNAPC4 P1302S SNAPC4 R730C SNCAIP R621C SNCAIP_ENST00000379533 R668C SNCB E109K SNRK L60V SNRK R468C SNRK_ENST00000454177 R468C SNRNP200 D1155N SNRNP200 E76G SNRNP200 F1736L SNRNP200 K1213R SNRNP200 R1763H SNRNP200 R739W SNRNP27 R21W SNRNP35 R163Q SNRNP48 H304Q SNRPN P104T SNTB1 R401Q SNTG1 D34Y SNTG1_ENST00000518864 D34Y SNTG2 D174H SNTG2 S200L SNTN L127P SNX13 H429Y SNX13 L652F SNX13 N675S SNX13 P875S SNX14 P578S SNX15 F218L SNX15 R19S SNX19 A691V SNX2 L377S SNX25 G635R SNX25 L578F SNX27_ENST00000368843 N206D SNX31 G327E SNX31 P185S SNX32 D241N SNX32 R233C SNX4 D7N SNX5 R296Q SNX7 P159S SNX7 T168P SOAT2 F356L SOCS1 A16T SOCS1 A3T SOCS1 P198S SOCS1 Q210H SOCS5 S464L SOCS5 V158I SOCS6 R260C SOCS7 R431C SOGA1 R603C SOGA1_ENST00000237536 R603C SOHLH1 A193T SOHLH1 T303M SOHLH2 A356T SON A2413T SON R2037I SON S908L SON_ENST00000300278 R2037I SON_ENST00000300278 S908L SORBS1 F455L SORBS1 R32H SORBS1 V774M SORBS1_ENST00000371247 F570L SORBS1_ENST00000371247 R32H SORBS1_ENST00000371247 V1156M SORBS1_ENST00000371247 V923M SORBS2 G831S SORBS2 R431C SORCS1 D419Y SORCS1 D565E SORCS1 D872E SORCS1 E301K SORCS1 E616K SORCS1 G106C SORCS1 R126W SORCS1_ENST00000344440 D565E SORCS1_ENST00000344440 E301K SORCS1_ENST00000344440 E616K SORCS1_ENST00000344440 G106C SORCS1_ENST00000344440 R126W SORCS2 R170W SORCS2 T39M SORCS3 G943W SORCS3 P913H SORCS3 Q814H SORCS3 R724H SORCS3 R832L SORCS3 S764G SORL1 D1267N SORL1 D1434G SORL1 E436K SORL1 M1581L SORL1 N466S SORL1 R1473Q SOS1 E846K SOS1 N233Y SOS1 R552K SOS2 R824C SOS2_ENST00000216373 E507K SOS2_ENST00000216373 R824C SOSTDC1 F24L SOSTDC1 R153H SOX11 D428G SOX13 A178V SOX17 S403I SOX17 S52R SOX30 R512C SOX5 P418Q SOX5 R235H SOX5 R493Q SOX5 R547L SOX6 N94Y SOX6 R123H SOX6 R592C SOX6 R686W SOX6_ENST00000527619 N97Y SOX9 E75K SOX9 P479H SP100 D136N SP100_ENST00000340126 R713W SP110 M8T SP110 M8V SP110_ENST00000540870 M14T SP110_ENST00000540870 M14V SP140 L138V SP140L V49F SP140L_ENST00000415673 R289I SP3_ENST00000310015 Q770R SP4 D388G SPA17 S2L SPA17 V116A SPACA1 T224N SPACA1 V76I SPAG1 S581P SPAG16 D315Y SPAG16 W440L SPAG17 E1506Q SPAG17 K876N SPAG17 R1574S SPAG17 R1641S SPAG5 A187T SPAG6 V106A SPAG7 E39G SPAM1 E327K SPAM1 S487P SPAM1_ENST00000439500 E327K SPAM1_ENST00000439500 S487P SPANXA2 A7V SPANXA2 D17E SPANXA2 G8R SPANXA2 G9R SPANXA2 K3Q SPANXD N58I SPANXD S48L SPANXN2 D142Y SPANXN2 Q149K SPANXN3 L91I SPANXN3 S134P SPARC A127V SPARC A282T SPARCL1 R177G SPAST R499C SPAST V423A SPATA13 V531I SPATA16 R562Q SPATA16 V271M SPATA17 E321Q SPATA17 R254H SPATA18 R67C SPATA19 R13Q SPATA21 L383R SPATA22 S150L SPATA4 P269S SPATA5 N773I SPATA6 E427K SPATA6 R382L SPATA6 R382Q SPATA8 E18K SPATA8 S86F SPATS1 L265F SPATS2 A100T SPATS2 Y437S SPATS2L E123K SPATS2L_ENST00000409755 A406V SPATS2L_ENST00000409755 E153K SPC24 R106G SPC25 E5K SPC25 E95K SPCS2_ENST00000263672 F107L SPDEF D283H SPDEF P147R SPDYA N42K SPDYC A99T SPDYE1 G234R SPECC1L A1016T SPECC1_ENST00000261503 D330N SPECC1_ENST00000261503 R21Q SPECC1_ENST00000261503 R831H SPEF2 D279N SPEF2 E176G SPEF2 R122H SPEF2_ENST00000356031 D279N SPEF2_ENST00000356031 E176G SPEF2_ENST00000356031 K1791T SPEF2_ENST00000356031 R1115C SPEF2_ENST00000356031 R1366Q SPEG A259T SPEG A3191T SPEG A944V SPEG P2189L SPEG R206C SPEM1 R115Q SPEM1_ENST00000323383 R64Q SPEN D1236G SPEN D2905N SPEN Q1829R SPEN Q2849R SPEN R1488I SPEN S835C SPEN T907I SPERT V417M SPG11 K604R SPG11 S464F SPG20 D259N SPG20 E463D SPG20 V505I SPG7 R391W SPG7_ENST00000341316 R391W SPHK2 R260C SPHKAP A930T SPHKAP N1155K SPHKAP P67H SPHKAP R1229Q SPHKAP R49C SPHKAP S1386Y SPHKAP S56L SPHKAP T1007M SPHKAP V440A SPHKAP_ENST00000392056 P67H SPHKAP_ENST00000392056 R1229Q SPHKAP_ENST00000392056 R49C SPHKAP_ENST00000392056 S1386Y SPHKAP_ENST00000392056 T1007M SPIC A151S SPIC E152K SPIN3_ENST00000374919 D91Y SPIN4 Y171C SPINK13 K28Q SPINK2 R80Q SPINK5 K305N SPINK5_ENST00000359874 K305N SPINT4 C34Y SPINT4 E31D SPIRE2 V595I SPN A17T SPN P116T SPNS3 A507T SPNS3 V146M SPOCD1 S174Y SPOCK1 R209W SPOCK1 V420M SPOCK3 D102N SPOCK3 D424G SPOCK3 S249P SPOCK3 T227A SPON2 F56S SPOP E47K SPOP E50K SPOP F102C SPOP F133C SPOP F133L SPOP F133S SPOP F133V SPOP M117V SPOP R121Q SPOP W131G SPOP Y87C SPOP Y87N SPOP Y87S SPOPL L69P SPP2 D36N SPR K226R SPR V214M SPRED3 V71I SPRR1B P43A SPRR2B K66N SPRR2E K40R SPRR4 R8W SPRY2 V62A SPRY3_ENST00000302805 M225I SPRY3_ENST00000302805 P34L SPRY4 R53L SPRYD5 S269R SPRYD5_ENST00000327733 K57T SPRYD5_ENST00000327733 S428R SPRYD5_ENST00000327733 T46M SPRYD7 A58T SPTA1 A1172S SPTA1 A2011V SPTA1 A2226T SPTA1 E2033D SPTA1 K1732T SPTA1 K679E SPTA1 L2020F SPTA1 Q1982H SPTA1 Q966H SPTA1 R1045W SPTA1 R137C SPTA1 R1757C SPTA1 R250H SPTAN1 A1027T SPTAN1 G1409R SPTB A859T SPTB Q1036E SPTB R1682H SPTB R1895C SPTB R840H SPTB R86C SPTB T971M SPTB V337I SPTBN1 M1919I SPTBN1 R42W SPTBN1 R681W SPTBN1_ENST00000333896 M1906I SPTBN2 A1942T SPTBN2 E2047K SPTBN2 R1227W SPTBN2 R1995C SPTBN4 S2105G SPTBN4 V937I SPTBN5 Q1602H SPTBN5 T2713I SPTLC2 R450G SPTY2D1 R301C SPZ1 E351G SPZ1 Q191E SRBD1 R464W SRBD1 S532R SRCAP E327G SRCAP M1050T SRCAP Q1661E SRCAP R1007W SRCAP R362Q SRCRB4D D422N SRCRB4D G508S SRD5A3 S61L SREK1_ENST00000334121 A56T SRFBP1 S303L SRGAP1 D713N SRGAP1 G1070R SRGAP2_ENST00000414007 G379R SRGAP3 R107L SRGAP3 V126I SRGN R39C SRL E39K SRL G270V SRL P300L SRL S50P SRP68 R521Q SRP72 Y86C SRPK2 G243D SRPK2 G317S SRPR R95H SRR G59D SRRM1 P566H SRRM1 R570L SRRM1 T220A SRRM2 R181H SRRM2 R1932H SRRM2 R2087L SRRM2 R479C SRRM2 R682C SRRM2 T810M SRRM3 R210H SRRM4 T37M SRRM4_ENST00000267260 T37M SRRM5 C437R SRRM5 Y444N SRRT A389V SRRT G135D SRRT G207R SRSF11_ENST00000370950 R275W SRSF11_ENST00000370950 S212L SRSF12 R121Q SRSF2 H99L SRSF2 P107H SRSF2 P95A SRSF2 P95H SRSF2 P95L SRSF2 P95R SRSF2 P95T SRSF7 L18Q SSBP3 A258T SSBP3 R45Q SSBP3 V31I SSBP3_ENST00000371320 A285T SSBP3_ENST00000371320 R45Q SSBP3_ENST00000371320 V31I SSC5D H1324P SSFA2 A537S SSFA2 I602M SSFA2 V229E SSH1 S777L SSH1 T138A SSH1_ENST00000326470 T149A SSNA1 E52K SSR3 E106K SSRP1 T575A SSRP1 T575M SST R101H SSTR1 V173M SSTR4 R120H SSTR4 T80M SSTR4 V170M SSTR5 R113H SSTR5 V110I SSX2IP G245S SSX3 K23N SSX3 P132L SSX3 R169H SSX3_ENST00000376893 K23N SSX3_ENST00000376893 P132L SSX7 S132P ST13 E53K ST14 L75M ST14 R428C ST18 A92T ST18 A983S ST18 R557C ST20 L68V ST3GAL3 R190W ST3GAL6 I270V ST6GAL2 D318N ST6GAL2 G501R ST6GAL2 Q422H ST6GAL2 S346L ST6GAL2 S360L ST6GALNAC1 T179M ST6GALNAC2 S58F ST6GALNAC3 A147V ST6GALNAC3 R59Q ST6GALNAC3 R7I ST6GALNAC5 Q211K ST6GALNAC5 R290H ST7 E399K ST7 E467Q ST7 R137Q ST7L P325S ST8SIA1 K22R ST8SIA1 R193W ST8SIA4 E92G ST8SIA4 S100I ST8SIA5 L130P ST8SIA6 L267P ST8SIA6 T286M STAB1 A394V STAB1 A630T STAB1 R1796W STAB1 W2045C STAB2 N565D STAB2 S1288A STAB2 T1333M STAB2 T2417A STAB2 T2417M STAB2 V52A STAC G246R STAC R252C STAC2 A407T STAC2 K399M STAC3 K38N STAC3 N225T STAG1 A116T STAG1 D754G STAG1 R140Q STAG1 R377C STAG1 R958C STAG2 R252Q STAG2 R370W STAG2 V465F STAG2 Y479C STAG2_ENST00000218089 R252Q STAG2_ENST00000218089 Y479C STAG3 F660L STAG3 R232S STAG3 S1016F STAM2 N201S STAMBPL1 A318E STAMBPL1 R60W STAP1 E273K STARD10 A58T STARD13 G903V STARD3 E429Q STARD3 R117Q STARD3NL T130A STARD3NL T130M STARD6 M169T STARD8 G188S STARD8 R478W STARD8 R597C STARD8_ENST00000252336 R478W STARD8_ENST00000252336 R597C STARD8_ENST00000374599 R558W STARD8_ENST00000374599 R677C STARD9 M342L STAT1 E711K STAT1 P491A STAT3 A46V STAT3 D661V STAT3 D661Y STAT3 G402C STAT3 K658N STAT3 N647I STAT3 S614R STAT3 Y640F STAT4 E112G STAT4 E112Q STAT5A I28V STAT5A R673H STAT5B G592R STAT6 E112D STAU1 A242T STAU1 R196Q STAU2 A146T STAU2_ENST00000521210 A74T STAU2_ENST00000524300 A178T STBD1 D286G STC1 R215C STC1 V149I STC2 F9L STEAP1B I229T STEAP3 R207C STEAP3 V441I STEAP4 R171C STEAP4 R237C STIL N624K STIL N865T STIL S678N STIM2 R659Q STK10 E863G STK11 D194N STK11 D194Y STK11 F354L STK11 G171S STK11 G56V STK11 K78E STK11 P281L STK11 P314H STK11 Q152R STK11 Q170R STK11 R304G STK11 R304W STK11 R409Q STK11 S216F STK11 V66M STK11 W308L STK19 D89N STK19_ENST00000375333 D89N STK31 K634E STK31 S586G STK32B E314G STK32B R198T STK32B R27W STK33 G94D STK33 L160V STK33 T140M STK33 T79A STK33 V490A STK33_ENST00000447869 G94D STK33_ENST00000447869 T79A STK33_ENST00000447869 V490A STK35 K386R STK35 V387G STK36 L1147V STK36 Q1138K STK36 R1209W STK36 R40C STK36 S69C STK36 S767P STK36 S767Y STK38 A136G STK38L D146G STK38L E196G STK38L I36M STK39 Q435H STK39 Y182C STK39_ENST00000355999 Q435H STK39_ENST00000355999 Y182C STK4 A205T STK40 A358V STK40 M133V STK4_ENST00000372801 A205T STOML3 R149I STOML3 V279I STON1 R511Q STON1 R516H STON1-GTF2A1L A812G STON1-GTF2A1L D1109Y STON1-GTF2A1L E889G STON1-GTF2A1L R511Q STON1-GTF2A1L S784L STON1-GTF2A1L V932A STON2 A669V STON2 H395Y STOX1 L272I STOX1 L369F STOX1 R503Q STOX2_ENST00000308497 I697K STOX2_ENST00000308497 P575R STOX2_ENST00000308497 V799I STRA6 R233H STRADB G155E STRADB L175M STRBP S182L STRBP V658I STS A534V STS D124N STT3B D583Y STT3B D670N STX11 D155N STX12 E224K STX16 Q275R STX16 R217Q STX5 R89Q STX5 R91C STX6 I155T STX6 R142C STXBP1 A297T STXBP1_ENST00000373299 A297T STXBP5 A760T STXBP5L D774N STXBP5L R1138H STXBP5L R904Q STXBP5L Y521C STXBP5_ENST00000321680 A796T STXBP6 A194T STYK1 L316P SUB1 R75H SUCLA2 V348G SUCLG1 E241K SUGP1 L347F SUGP1 Q52R SULF1 E549K SULF1 F168L SULF1 R780C SULF2 D573G SULF2 D573N SULF2 I635T SULF2 R137Q SULF2 R263C SULF2 R394Q SULF2 R39H SULT1A1 F247L SULT1A1 P19L SULT1A1_ENST00000350842 F169L SULT1A2 R213H SULT1C2 E169G SULT1C2 S129P SULT1C2_ENST00000251481 S118P SULT1C4 H299Q SULT1C4 R85Q SULT1E1 S100Y SULT2A1 V236A SULT4A1 R32C SULT6B1 F186L SULT6B1 F186S SUN3 D180N SUN3 E128K SUN5 E178G SUPT16H E1007K SUPT16H R847W SUPT3H R144G SUPT3H S263I SUPT3H_ENST00000371459 R133G SUPT3H_ENST00000371459 S252I SUPT5H E362G SUPT5H R416Q SUPT5H R813H SUPT6H A957T SUPT6H D130Y SUPT6H D18G SUPT6H D18N SUPT6H E8K SUPT6H R715W SUPV3L1 A166T SURF1 N89K SURF5 S167L SURF6 R326W SUSD2 A91T SUSD3 S140T SUSD3 T42N SUSD4_ENST00000343846 T288P SUV39H1 I219M SUV39H2 D323H SUV39H2 R293Q SUV420H1 P583A SUV420H1 P631A SUV420H1 P670T SUV420H1 S552C SUZ12 G163D SUZ12 R103Q SV2A R419C SV2A S393P SV2A T399M SV2A V486M SV2A W454R SV2B V184I SV2C A205V SVEP1 C2440Y SVEP1 D1610N SVEP1 F2509L SVEP1 M1444L SVIL A1494V SVIL E147K SVIL L1374R SVIL M1259T SVIL T1612I SVIL V694L SVOPL L153M SVOPL_ENST00000419765 L305M SVOPL_ENST00000419765 R15Q SWAP70 R447Q SYAP1 R152C SYBU S148L SYCE1 R196H SYCE1L P210T SYCE1_ENST00000343131 R232H SYCP2 R251I SYCP2L T32M SYDE1 R537C SYK A330T SYMPK R709H SYN3 V146M SYNC D7H SYNCRIP Y469C SYNCRIP Y469N SYNDIG1 R119W SYNDIG1 V12L SYNE1 A1608V SYNE1 A5526T SYNE1 E1193D SYNE1 E2324K SYNE1 E268D SYNE1 E315D SYNE1 E4060D SYNE1 E4210G SYNE1 E819K SYNE1 G3659E SYNE1 I1249L SYNE1 K6901E SYNE1 K920R SYNE1 L5507P SYNE1 L5507R SYNE1 M4357I SYNE1 Q1395H SYNE1 Q5751R SYNE1 R170W SYNE1 R1835H SYNE1 R4223H SYNE1 R648Q SYNE1 R7507H SYNE1 R8117W SYNE1 R8202C SYNE1 R8468C SYNE1 R8468H SYNE1 R8495C SYNE1 S7697L SYNE1 T2359I SYNE1 T6205K SYNE1 T8414M SYNE1 V3671A SYNE1 V3671M SYNE1_ENST00000265368 A1608V SYNE1_ENST00000265368 E1193D SYNE1_ENST00000265368 E2324K SYNE1_ENST00000265368 E268D SYNE1_ENST00000265368 E315D SYNE1_ENST00000265368 E4060D SYNE1_ENST00000265368 E4210G SYNE1_ENST00000265368 E819K SYNE1_ENST00000265368 G6211S SYNE1_ENST00000265368 I1249L SYNE1_ENST00000265368 K6901E SYNE1_ENST00000265368 K920R SYNE1_ENST00000265368 L5507P SYNE1_ENST00000265368 M4357I SYNE1_ENST00000265368 Q1395H SYNE1_ENST00000265368 Q5751R SYNE1_ENST00000265368 R170W SYNE1_ENST00000265368 R1835H SYNE1_ENST00000265368 R3070Q SYNE1_ENST00000265368 R4223H SYNE1_ENST00000265368 R648Q SYNE1_ENST00000265368 R7507H SYNE1_ENST00000265368 R8117W SYNE1_ENST00000265368 R8202C SYNE1_ENST00000265368 R8468C SYNE1_ENST00000265368 R8468H SYNE1_ENST00000265368 R8495C SYNE1_ENST00000265368 S7697L SYNE1_ENST00000265368 T6205K SYNE1_ENST00000265368 T8414M SYNE1_ENST00000265368 V3671A SYNE1_ENST00000265368 V3671M SYNE1_ENST00000423061 E1200D SYNE1_ENST00000423061 E4139G SYNE1_ENST00000423061 G6140S SYNE1_ENST00000423061 K927R SYNE1_ENST00000423061 L5436P SYNE1_ENST00000423061 Q5680R SYNE1_ENST00000423061 R1842H SYNE1_ENST00000423061 R3077Q SYNE1_ENST00000423061 R4152H SYNE1_ENST00000423061 R8131C SYNE1_ENST00000423061 R8420C SYNE1_ENST00000423061 R8447C SYNE1_ENST00000423061 V3656A SYNE1_ENST00000423061 V3656M SYNE2 A6078P SYNE2 E464Q SYNE2 K3103N SYNE2 L2603P SYNE2 P5469Q SYNE2 Q6374H SYNE2 T5464A SYNE3 A923V SYNE3 E56K SYNE3_ENST00000334258 A923V SYNE3_ENST00000334258 E56K SYNGAP1 V747I SYNGAP1_ENST00000293748 V747I SYNGR2 C42Y SYNGR4 R169Q SYNJ1 L1328P SYNJ1 P1304Q SYNJ1_ENST00000433931 P1343Q SYNM_ENST00000336292 S1458L SYNPO2 S243L SYNPO2 S663L SYNPO2 S881L SYNPO2 T601S SYNPO2L R171C SYNPO2L T494A SYNPO2L_ENST00000394810 R395C SYNPO2L_ENST00000394810 T718A SYNPO2_ENST00000307142 S243L SYNPO2_ENST00000307142 S663L SYNPR A66S SYNRG D693N SYNRG S1021L SYP V222M SYT1 F77L SYT1 F77S SYT10 K352N SYT10 M393I SYT10 T493M SYT11 I290N SYT12 R236W SYT14 D137G SYT14 D137V SYT14 R344W SYT14 S392F SYT15 R247C SYT15_ENST00000374321 R150W SYT15_ENST00000374321 R195C SYT15_ENST00000416127 R150W SYT15_ENST00000416127 R195C SYT16 R416H SYT17 R28W SYT2 R197Q SYT2 T327A SYT3 D31N SYT3 G277W SYT5 P154L SYT6 R164H SYT7 T349M SYT7 W384R SYT9 A249T SYT9 D209Y SYT9 L99F SYTL2 G190E SYTL2 K126N SYTL5 R378H SZT2 G2119R SZT2 R1977W SZT2 R1980C SZT2 R823H SZT2_ENST00000562955 R1665H SZT2_ENST00000562955 R31C SgK085 A78S SgK085 E30G SgK085 P85L SgK269 E740K SgK269 H611N SgK269 H611R SgK269 H611Y SgK269 S1198N SgK495 A358V SgK495 M133V T A406T T P117L TAAR6 K258N TAAR6 P66Q TAB3 G344E TAB3 M185V TAB3 M574I TACC1 A171V TACC1 L688F TACC1 V149M TACC1_ENST00000317827 A171V TACC1_ENST00000317827 L688F TACC2 A1347S TACC3 A148V TACR1 S378P TACR3 D417N TACR3 F453S TACR3 T430M TACR3 V403M TADA2A R339Q TADA2A R339W TADA2A_ENST00000394395 R339Q TAF1 E651G TAF1 G626C TAF1 I1741V TAF1 R1068H TAF1 R1126W TAF1 R1376Q TAF1 R342C TAF1 R843Q TAF1 R843W TAF1L A869T TAF1L C965R TAF1L H1824Q TAF1L H625D TAF1L L750F TAF1L R1243W TAF1L R1396C TAF1L R636H TAF1_ENST00000276072 E672G TAF1_ENST00000276072 G647C TAF1_ENST00000276072 R1397Q TAF1_ENST00000276072 R864Q TAF1_ENST00000276072 R864W TAF2 A244V TAF2 L284P TAF2 L994M TAF2_ENST00000378164 L284P TAF3 R425I TAF4 R459Q TAF4 T1051A TAF4B K288M TAF4B L827F TAF6 L201P TAF6L A79T TAF6L R225H TAF7 D297H TAF7L C216W TAF7L K400E TAF8 T220P TAGAP R203Q TAGAP R203W TAGAP R567C TAGLN3 A187V TAGLN3 M122I TAGLN3_ENST00000540095 A187V TAGLN3_ENST00000540095 M122I TAL1 A157D TAL2_ENST00000334077 H83P TANC1 K1418R TANC1 L660P TANC2 D1680N TANC2_ENST00000389520 D1680N TANK A192V TANK S380L TAOK1 N639S TAOK1 R832H TAOK1 V891A TAOK1_ENST00000261716 R832H TAOK1_ENST00000261716 V891A TAOK2_ENST00000308893 V1077G TAOK3 P20T TAOK3 R146K TAOK3 R490C TAOK3 R490H TAOK3 S392P TAOK3_ENST00000419821 A647S TAOK3_ENST00000419821 R146K TAOK3_ENST00000419821 R490H TAOK3_ENST00000419821 S392P TAP1 R544C TAP2_ENST00000374897 V379I TAP2_ENST00000458336 V379I TAPBP V360A TAPBPL R186Q TAPBPL R460H TARBP1 L782V TARBP1 S912C TARDBP T153M TARS G43D TARS R131H TARS2 A575V TARS2 R304C TAS1R1 A453V TAS1R2 A369T TAS1R2 A658T TAS1R2 R256C TAS1R2 R270C TAS1R2 R554W TAS1R2 R707C TAS1R2 R707H TAS1R3 E301K TAS2R1 F183L TAS2R1 I140L TAS2R13 N149S TAS2R16 H209Y TAS2R16 V231I TAS2R19 H93R TAS2R3 H170Y TAS2R3 L251F TAS2R3 Y246F TAS2R30 A227V TAS2R39 A51E TAS2R43 H212R TAS2R43 W35S TAS2R46_ENST00000422992 W35S TAS2R60 M213I TAS2R60 P177H TAS2R8 R55K TAS2R9 E163Q TAS2R9 R290M TAT A430V TAT P3L TATDN2 F84S TAX1BP1 Q457R TAX1BP1 R680Q TBC1D1 A427V TBC1D1 E210K TBC1D10A R117W TBC1D10B R625W TBC1D10C A321V TBC1D10C Q142E TBC1D16 R482C TBC1D20 R261C TBC1D21 R113Q TBC1D24 V201M TBC1D25 Q88E TBC1D25_ENST00000376771 I139M TBC1D25_ENST00000376771 R649H TBC1D28 A110V TBC1D29 R124Q TBC1D2B D903N TBC1D2B_ENST00000300584 R920Q TBC1D3C Q526P TBC1D3E Q354K TBC1D3_ENST00000537432 Q354K TBC1D7 R110C TBC1D8B G1059V TBC1D8B K118R TBC1D8B L925I TBC1D8B P310S TBC1D8B Y815F TBC1D8B_ENST00000310452 K118R TBC1D8_ENST00000376840 H744P TBC1D9 P1233T TBC1D9B D980Y TBC1D9_ENST00000442267 P1233T TBCK F256L TBCK R503I TBK1 A535T TBK1 E109K TBK1 F663L TBK1 T79P TBK1_ENST00000331710 A535T TBK1_ENST00000331710 E109K TBK1_ENST00000331710 F663L TBK1_ENST00000331710 T79P TBL3 V352M TBPL1 S73R TBPL2 R31P TBR1 G275C TBRG4 A278V TBX10 R147H TBX15 S349L TBX18 G367R TBX18 R333C TBX18 R353W TBX18 S603Y TBX18 T564M TBX2 P627Q TBX21 K322N TBX22 R126W TBX22 T260M TBX5 A11V TBX5 L173P TBX5 P307T TBX5 R375W TBX5_ENST00000526441 A11V TBXAS1 M282T TBXAS1 R216H TBXAS1_ENST00000416849 M328T TBXAS1_ENST00000416849 R262H TC2N N38S TC2N R143H TC2N S156L TCEA1_ENST00000521604 E88K TCEAL3 P175Q TCEAL5 Q197R TCEB3 K262E TCEB3B A116T TCEB3B D105E TCEB3B G194R TCEB3B P541Q TCEB3B Q106R TCEB3B R498W TCEB3C L363P TCERG1 A293V TCERG1L A205T TCF12 R603Q TCF12_ENST00000343827 R409Q TCF12_ENST00000438423 R603Q TCF12_ENST00000452095 R295C TCF12_ENST00000452095 R599Q TCF12_ENST00000452095 R609H TCF25 I604M TCF7 E164K TCF7L1 M292T TCF7L2 A374V TCF7L2 G206R TCF7L2 P258T TCF7L2 R465C TCF7L2 R465H TCF7L2_ENST00000355717 A471T TCF7L2_ENST00000543371 A397V TCF7L2_ENST00000543371 G229R TCF7L2_ENST00000543371 G452R TCF7L2_ENST00000543371 R471C TCF7L2_ENST00000543371 R471H TCF7_ENST00000361590 E164K TCF7_ENST00000361590 H140P TCF7_ENST00000378560 H25P TCFL5 R348C TCHH E1364K TCHH E344Q TCHH E356Q TCHH Q451K TCHH R1125G TCHH R1789C TCHH T1070K TCHHL1 E506Q TCHHL1 K217R TCHP A371T TCL1A A33T TCN2 A388V TCP10 E19G TCP10 H104P TCP11L1 T325I TCTEX1D2 F140L TDG A328V TDO2 F222V TDP1 D6N TDRD1 N65K TDRD10 S322L TDRD3 A575T TDRD5 E555K TDRD5 F576L TDRD5 R925H TDRD6 E501K TDRD6 K1519N TDRD6 R336W TDRD7 R1041Q TDRD7 R720Q TDRD9_ENST00000409874 E258K TDRKH Y307F TEAD2 R113K TEAD2 R95Q TEC V234I TECPR1 R161Q TECPR2 K469R TECR A27T TECR R51H TECRL L26V TECRL R31I TECTA D1330Y TECTA D612N TECTA E110K TECTA E185K TECTA G525S TECTA N813S TECTA N886S TECTA R284H TECTA R491H TECTA T1891M TECTB H124N TECTB L29I TEDDM1 K89R TEK F203L TEK K117N TEK K117R TEK L760P TEKT1 R119G TEKT2 E48K TEKT3 R202Q TEKT3 V331L TEKT4 I212V TEKT4 R344L TEKT5 R401H TEK_ENST00000380036 E990K TEK_ENST00000380036 F203L TEK_ENST00000380036 K117R TEK_ENST00000380036 L760P TEK_ENST00000380036 R1076W TENC1 R170P TEP1 G2079R TEP1 H135D TEP1 R1145L TEP1 R396H TERF1_ENST00000276603 A303V TERF2 R192I TES E33K TESC D121N TESK1 A252S TESK1 H539Y TESK2 G11A TESK2 R362C TESK2 R379H TESK2 S33N TET1_ENST00000373644 H1706Y TET1_ENST00000373644 H385R TET1_ENST00000373644 K1269R TET1_ENST00000373644 P307H TET1_ENST00000373644 R81H TET1_ENST00000373644 V128F TET1_ENST00000373644 V2120M TET2 A1865G TET2 C1193F TET2 C1193W TET2 C1211Y TET2 C1271W TET2 C1273S TET2 C1289F TET2 C1289Y TET2 C1298Y TET2 C1396W TET2 C25R TET2 D1242V TET2 D1384H TET2 E1222G TET2 E1234G TET2 E1318G TET2 F868L TET2 G1256A TET2 G1275E TET2 G1282D TET2 G1361D TET2 G1913D TET2 H1380Y TET2 H1868Y TET2 H1881R TET2 H1904R TET2 I1871S TET2 I1873T TET2 K1197R TET2 K1299E TET2 L1151P TET2 L1248P TET2 L1322P TET2 L1340P TET2 L1872P TET2 L346P TET2 L34F TET2 L699M TET2 N1156I TET2 N1641I TET2 P1367S TET2 P1419R TET2 P1962L TET2 R1214W TET2 R1261C TET2 R1261L TET2 R1302G TET2 R1359C TET2 R1359H TET2 R1366H TET2 R1739I TET2 R2000K TET2 S1563F TET2 S1870L TET2 S1898F TET2 S282F TET2 T1884A TET2 V1417F TET2 V1718L TET2 W1291R TET2 Y867H TET3 R1658H TET3 R401H TEX11 F290S TEX11 M640T TEX11 M640V TEX11 S286F TEX12 M1I TEX12 T115A TEX13B G15R TEX14 A218V TEX14 P228Q TEX14 R335L TEX14 R6C TEX14_ENST00000240361 A224V TEX14_ENST00000240361 P234Q TEX14_ENST00000240361 R341L TEX14_ENST00000240361 R6C TEX15 F753L TEX15 I2278V TEX15 L1383P TEX15 L1822I TEX15 R2438T TEX15 S30Y TEX15 V42D TEX2 L803M TF D311Y TF D633Y TF E337Q TFAP2B S143L TFAP2C M351I TFAP2C M351V TFAP2D A340V TFAP2D L292F TFAP2D N191K TFAP2D P389L TFAP2D R141H TFAP4 R60H TFB1M R293C TFCP2 R339Q TFCP2L1 D224N TFDP1 G115D TFDP1 R168H TFEB N241S TFEC K208R TFIP11 R386Q TFPI2 R132Q TFPI2 R222H TFR2 R730H TFRC R155H TG C636F TG D1014N TG D418G TG K1153N TG Q780H TG R2379C TG S1407L TG S2116R TG V1511A TGDS V95A TGFA V16A TGFB1I1 E377D TGFB1I1_ENST00000394863 E394D TGFBI E576K TGFBR1 S241L TGFBR2 C393F TGFBR2 D446N TGFBR2 I95L TGFBR2 N490S TGFBR2 R528C TGFBR2 R528H TGFBR3 R165Q TGIF2 E140K TGIF2LX L109I TGIF2LX P143S TGM1 K177N TGM2 F622L TGM2 N177D TGM3 R201H TGM3 R608L TGM3 R608W TGM4 R431W TGM4 T639M TGM5 R274C TGM7 V584M TGOLN2_ENST00000377386 K83R TGS1 I790M TH A190S THAP10 Y247F THAP2 R41H THAP3 E160K THAP3 S173I THAP4 G225E THAP5 S125Y THAP9 E776G THBD A555V THBS1 D53N THBS2 L723V THBS2 R59C THBS2 R59H THBS3 R401H THBS4 Q954H THEMIS D580Y THEMIS M235I THEMIS R19M THG1L E67K THNSL1 Q399R THNSL1 V480I THOC1 R414W THOC5 T380A THOC6 V79A THOC6 V79I THOC7 E182K THOC7 L75P THPO L195P THRAP3 H642R THRB T48M THSD7A G995R THSD7A P1066R THSD7A R544C THSD7A S936R THSD7A T424M THSD7B E1348K THSD7B H140N THSD7B P1419H THSD7B P807H THSD7B R121H THSD7B R723Q THSD7B S1485P THSD7B_ENST00000413152 P1388H THSD7B_ENST00000413152 P776H THSD7B_ENST00000413152 S1454P THUMPD1 A292V THUMPD1 D231G THUMPD3 N160S TIA1 Q341L TIAL1 G361E TIAL1 T126A TIAL1 T126I TIAM1 A1004T TIAM1 D755E TIAM1 H847Y TIAM1 R1540Q TIAM1 R380H TIAM1 R678C TIAM1_ENST00000286827 A1004T TIAM1_ENST00000286827 D755E TIAM1_ENST00000286827 R1540Q TIAM1_ENST00000286827 R380H TIAM2 R300W TICAM1 M46V TICAM2 A62T TIE1 R427H TIE1 R461H TIE1 V765M TIF1 K968R TIF1 R339C TIF1 T543A TIFA S43P TIGD4 D28N TIMD4 A67V TIMD4 G374D TIMD4 T29M TIMELESS D1174N TIMELESS R277Q TIMM17A G43V TIMM17A R6P TINAG R191H TINAG R191L TINAG R299H TINAG R332W TINAGL1 A306V TINAGL1 R274C TIPARP R133Q TIRAP R215H TIRAP R81C TIRAP_ENST00000392678 R215H TJP1 E568G TJP1 E957V TK2 V118I TKT A404T TKTL1 C50R TKTL1 R176C TKTL2 C447S TKTL2 R475Q TLE1 E255A TLE3 A477T TLE4 R431H TLE4_ENST00000376520 R463H TLK2 K588N TLK2 R262Q TLK2_ENST00000326270 K610N TLK2_ENST00000326270 R262Q TLK2_ENST00000346027 R262Q TLL1 K642M TLL1 K642T TLL1 R317C TLL1 T153M TLL1 V239I TLL2 S872L TLN1 E384K TLN2 A1565T TLN2 D1644N TLN2 G1786R TLR1 R765H TLR2 D327V TLR3 L149V TLR3 R890H TLR4 N282S TLR4 R745C TLR4 R804G TLR4 S126L TLR5 N96K TLR6 P403S TLR6 R758Q TLR7 L15F TLR7 R296H TLR8 S633P TLR9 A164T TLR9 R216H TLR9 R247H TM2D1 E166K TM4SF1 R45C TM4SF2 F94S TM4SF20 A76V TM4SF4 R147Q TM7SF4 E413G TM7SF4 P24L TM7SF4 R416C TM7SF4 V196I TM9SF1 E70K TM9SF1 R221H TM9SF2 R91H TMBIM1 R310H TMBIM4 A184T TMC1 A166V TMC1 R604Q TMC2 N434S TMC3 E848K TMC4 E525K TMC4 R100I TMC4_ENST00000416963 E113K TMC5 R582W TMC5_ENST00000396229 R828W TMC6 V533G TMC7 A375P TMC7 W487R TMCC3 R110H TMCO1 R87Q TMCO3 R138C TMCO3 R47W TMCO3 R632Q TMED1 K117E TMED2 E75K TMED5 R183H TMEFF2 R34H TMEM104 G27S TMEM104 G41W TMEM106A V100M TMEM106C P108L TMEM117 R148Q TMEM119 R143W TMEM121 V41M TMEM123 M189V TMEM126A V60A TMEM126A V60M TMEM130 A65T TMEM130 I357T TMEM131 D1246N TMEM131 E1206Q TMEM131 K1272E TMEM131 K1272R TMEM131 S1143C TMEM131 V1278L TMEM131_ENST00000186436 E1319Q TMEM131_ENST00000186436 K1385E TMEM131_ENST00000186436 K1385R TMEM131_ENST00000186436 V1391L TMEM132A R1014C TMEM132A R481C TMEM132A V798G TMEM132B D719N TMEM132B G822E TMEM132B R930G TMEM132B T647M TMEM132D E953G TMEM132D P219L TMEM132D R578W TMEM132D S845Y TMEM132D V193M TMEM132D V304M TMEM132E P445H TMEM132E R317W TMEM132E R677Q TMEM138 R103C TMEM145 Y190F TMEM14B R108C TMEM150B L199F TMEM151B A254V TMEM161A R302C TMEM165 V307I TMEM168 L44V TMEM168 S247P TMEM169 R56C TMEM169 R56S TMEM169 T142M TMEM169 Y188C TMEM170A V132I TMEM171 R107C TMEM175 S128L TMEM176A F140I TMEM176A R78S TMEM176B S94R TMEM178 R151H TMEM180 R159H TMEM180 R222Q TMEM180 V331I TMEM182 S27L TMEM194A_ENST00000300128 S152N TMEM196 R23W TMEM196_ENST00000405764 R91W TMEM198 R268C TMEM2 R409W TMEM200A S212Y TMEM200C R154H TMEM201 A139T TMEM201_ENST00000340381 A139T TMEM204 A9V TMEM204 T180M TMEM206 K336R TMEM215 R84W TMEM215 V179I TMEM22 F69L TMEM225 M86I TMEM229B T90A TMEM25 V208L TMEM30A R307Q TMEM33 P247L TMEM37 S138F TMEM37 S138P TMEM38A A53V TMEM39A R179Q TMEM41A D47N TMEM41B A238T TMEM45A T222S TMEM5 G220V TMEM50B S113P TMEM52 M141T TMEM53 V248M TMEM55A R189Q TMEM55A R59H TMEM55B C214F TMEM62 G179C TMEM63B G783R TMEM63B P530R TMEM63C R60W TMEM63C R636H TMEM65 R202C TMEM67 A267S TMEM67 N89S TMEM67_ENST00000453321 N89S TMEM71 D83N TMEM71 R62H TMEM74 M1I TMEM74 R125Q TMEM74 R262Q TMEM74 T240M TMEM74 T286A TMEM74 V244I TMEM81 G14W TMEM82 S333L TMEM86A A194T TMEM87B I466V TMEM8B_ENST00000377988 R315C TMF1 H957Y TMIGD1 A147T TMLHE V74A TMOD1 A331T TMOD3 E19K TMOD4 T60M TMPPE A11T TMPRSS11A A199V TMPRSS11A R292C TMPRSS11A S288L TMPRSS11A T80M TMPRSS11D R6G TMPRSS11E R261Q TMPRSS11F S14P TMPRSS12 I304F TMPRSS15 A60V TMPRSS15 C354F TMPRSS15 D578N TMPRSS15 E419V TMPRSS15 G402E TMPRSS15 G598W TMPRSS15 N457S TMPRSS15 S8Y TMPRSS2_ENST00000332149 P369T TMPRSS2_ENST00000454499 E178K TMPRSS2_ENST00000454499 P369T TMPRSS3 S226L TMPRSS4 R175C TMPRSS6 A116T TMPRSS6 R223H TMPRSS7_ENST00000419127 R3C TMSB15B K12R TMTC1 E472K TMTC1 G278S TMTC1 R170W TMTC2 E765G TMTC2 K378E TMTC2 K614R TMTC4 A167E TMTC4 G449V TMTC4 L280F TMTC4 M674T TMTC4 M674V TMTC4 R611C TMTC4 V180A TMTC4 V180M TNC E1897K TNC G892D TNC R322W TNC R499H TNFAIP2 V442G TNFAIP3 A588G TNFAIP3 D117G TNFAIP3 L302P TNFAIP3 N102S TNFAIP3 N776S TNFAIP3 T155A TNFRSF10A K443R TNFRSF10C T199N TNFRSF10C T214N TNFRSF11B N3K TNFRSF11B R111C TNFRSF11B_ENST00000297350 N3K TNFRSF13B H56N TNFRSF13B V174I TNFRSF14 C42W TNFRSF14 M1I TNFRSF19 R223S TNFRSF21 D455N TNFRSF21 V589G TNFRSF8 P132L TNFRSF8 P215S TNFRSF8 T198P TNFRSF8 T331N TNFRSF9 A56V TNFRSF9 E250G TNFSF14 T70P TNFSF15 E164D TNFSF4 E68K TNFSF4 N96K TNFSF8 V186I TNIK D561E TNIK F1046L TNIK R1031W TNIK_ENST00000436636 D561E TNIK_ENST00000436636 R1031W TNIP1 Q329L TNIP1 R606Q TNIP2 A139T TNIP3 T18M TNK2 G694E TNK2 R34L TNK2 R742L TNK2 S450L TNK2_ENST00000333602 G694E TNK2_ENST00000333602 R742L TNK2_ENST00000381916 G772E TNK2_ENST00000381916 R445W TNK2_ENST00000381916 R820L TNK2_ENST00000381916 S513L TNKS T49A TNKS2 K136N TNKS2 M1115T TNKS2 P318A TNKS2 Q145R TNKS_ENST00000310430 T49A TNN D569G TNN P200L TNN P930L TNN R1297Q TNN S744F TNN T853M TNN V777L TNN W905L TNNI3K F636L TNNI3K G421A TNNI3K I489K TNNI3K M798I TNNI3K P170L TNNI3K P170T TNNI3K R354H TNNT2 R148W TNP2 R42H TNPO1 Q30H TNPO1 R883C TNR D1114N TNR E930K TNR G23S TNR L692I TNR N278S TNR P437T TNR P642T TNR R1007W TNR R234Q TNR T425M TNR T927A TNR V754I TNRC18_ENST00000399537 A811T TNRC18_ENST00000430969 A811T TNRC6A N1247D TNS1 R117Q TNS1_ENST00000446903 R242Q TNS3 G770V TNS3 L1004Q TNS3 V457M TNS4 G597E TNS4 G64D TNS4 R642C TNS4 S228F TNXB_ENST00000375247 E2896K TNXB_ENST00000375247 R1864H TNXB_ENST00000375247 R3127H TNXB_ENST00000375247 T1035M TOB1 K48E TOB1 K48N TOB1 K48R TOMM40L N154H TOMM70A K188E TONSL E294K TONSL_ENST00000409379 E453K TONSL_ENST00000409379 T104M TOP1 K326R TOP1 P560L TOP2A D1017H TOP2A E1109K TOP2A F190L TOP2A L1166F TOP2A V255A TOP2B R312G TOP2B R651H TOP3A R323W TOP3A R758M TOPBP1 E517G TOPBP1 G115R TOPBP1 L626F TOPBP1_ENST00000260810 E604G TOPORS_ENST00000360538 E922G TOPORS_ENST00000360538 H882Q TOPORS_ENST00000360538 T185A TOR1A G107D TOR1A M172T TOR1A V111I TOR1AIP1 F354L TOR1AIP1 V190L TOX A267T TOX S354L TOX3 E65K TOX3_ENST00000407228 E60K TOX4 A352T TP53 A129T TP53 A129V TP53 A138P TP53 A138T TP53 A138V TP53 A159D TP53 A159P TP53 A159S TP53 A159T TP53 A159V TP53 A161D TP53 A161T TP53 A161V TP53 A189G TP53 A189P TP53 A189T TP53 A189V TP53 A276D TP53 A276G TP53 A276P TP53 A276S TP53 A276T TP53 A276V TP53 A307T TP53 A347T TP53 A69G TP53 A74V TP53 A78V TP53 A79V TP53 A84G TP53 A84V TP53 C124G TP53 C124R TP53 C135F TP53 C135G TP53 C135R TP53 C135S TP53 C135W TP53 C135Y TP53 C141F TP53 C141G TP53 C141R TP53 C141S TP53 C141W TP53 C141Y TP53 C176F TP53 C176G TP53 C176R TP53 C176S TP53 C176W TP53 C176Y TP53 C182R TP53 C182S TP53 C182Y TP53 C229R TP53 C229S TP53 C229Y TP53 C238F TP53 C238G TP53 C238R TP53 C238S TP53 C238W TP53 C238Y TP53 C242F TP53 C242G TP53 C242R TP53 C242S TP53 C242W TP53 C242Y TP53 C275F TP53 C275G TP53 C275R TP53 C275S TP53 C275W TP53 C275Y TP53 C277F TP53 C277G TP53 C277S TP53 C277W TP53 C277Y TP53 D148E TP53 D148N TP53 D148V TP53 D184H TP53 D184N TP53 D184Y TP53 D186G TP53 D186H TP53 D186N TP53 D207G TP53 D208E TP53 D208G TP53 D208N TP53 D208V TP53 D228A TP53 D228E TP53 D228G TP53 D228N TP53 D228V TP53 D228Y TP53 D259E TP53 D259G TP53 D259N TP53 D259V TP53 D259Y TP53 D281A TP53 D281E TP53 D281G TP53 D281H TP53 D281N TP53 D281V TP53 D281Y TP53 D324E TP53 D49H TP53 D49Y TP53 D61N TP53 E11Q TP53 E171D TP53 E171G TP53 E171K TP53 E171Q TP53 E171V TP53 E180D TP53 E180K TP53 E198K TP53 E198Q TP53 E204D TP53 E204G TP53 E204K TP53 E221D TP53 E221G TP53 E221K TP53 E224D TP53 E224G TP53 E224K TP53 E258A TP53 E258D TP53 E258G TP53 E258K TP53 E258Q TP53 E258V TP53 E271D TP53 E271G TP53 E271K TP53 E271Q TP53 E271V TP53 E285A TP53 E285G TP53 E285K TP53 E285Q TP53 E285V TP53 E286A TP53 E286D TP53 E286G TP53 E286K TP53 E286Q TP53 E286V TP53 E287D TP53 E287G TP53 E287K TP53 E294D TP53 E294G TP53 E294K TP53 E294Q TP53 E298K TP53 E298V TP53 E349K TP53 E56K TP53 E68G TP53 F109C TP53 F109L TP53 F109S TP53 F113C TP53 F113L TP53 F113S TP53 F113V TP53 F134C TP53 F134L TP53 F134S TP53 F134V TP53 F212I TP53 F212L TP53 F212S TP53 F270C TP53 F270I TP53 F270L TP53 F270S TP53 F270V TP53 F270Y TP53 G105C TP53 G105D TP53 G105R TP53 G105S TP53 G117E TP53 G154C TP53 G154D TP53 G154I TP53 G154S TP53 G154V TP53 G187C TP53 G187D TP53 G187S TP53 G187V TP53 G199E TP53 G199R TP53 G199V TP53 G226A TP53 G226D TP53 G226S TP53 G226V TP53 G244A TP53 G244C TP53 G244D TP53 G244R TP53 G244S TP53 G244V TP53 G245A TP53 G245C TP53 G245D TP53 G245N TP53 G245R TP53 G245S TP53 G245V TP53 G262D TP53 G262S TP53 G262V TP53 G266A TP53 G266E TP53 G266R TP53 G266V TP53 G279E TP53 G279R TP53 G279V TP53 G279W TP53 G293R TP53 G302E TP53 G334V TP53 G334W TP53 G356W TP53 G59C TP53 H168L TP53 H168P TP53 H168R TP53 H168Y TP53 H178D TP53 H178N TP53 H178P TP53 H178Q TP53 H178Y TP53 H179D TP53 H179L TP53 H179N TP53 H179P TP53 H179Q TP53 H179R TP53 H179Y TP53 H193D TP53 H193L TP53 H193N TP53 H193P TP53 H193R TP53 H193Y TP53 H214D TP53 H214Q TP53 H214R TP53 H214Y TP53 H233D TP53 H233L TP53 H233Q TP53 H233Y TP53 H296L TP53 H296N TP53 H296Y TP53 H297Y TP53 I162F TP53 I162M TP53 I162N TP53 I162S TP53 I162V TP53 I195F TP53 I195N TP53 I195S TP53 I195T TP53 I232F TP53 I232N TP53 I232S TP53 I232T TP53 I232V TP53 I251F TP53 I251L TP53 I251N TP53 I251S TP53 I251T TP53 I251V TP53 I254D TP53 I254F TP53 I254N TP53 I254S TP53 I254T TP53 I254V TP53 I255F TP53 I255N TP53 I255S TP53 I255T TP53 I255V TP53 K101R TP53 K120E TP53 K120M TP53 K120R TP53 K132E TP53 K132M TP53 K132N TP53 K132Q TP53 K132R TP53 K132T TP53 K139E TP53 K139N TP53 K139Q TP53 K139R TP53 K164E TP53 K164M TP53 K164N TP53 K164Q TP53 K164T TP53 K291E TP53 K291N TP53 K291R TP53 K291T TP53 K292E TP53 K292N TP53 K292R TP53 K292T TP53 K305N TP53 K305R TP53 K319E TP53 K319N TP53 K319R TP53 K320N TP53 L111P TP53 L111Q TP53 L111R TP53 L130F TP53 L130H TP53 L130P TP53 L130R TP53 L130V TP53 L137M TP53 L137P TP53 L137Q TP53 L145P TP53 L145Q TP53 L145R TP53 L145V TP53 L194F TP53 L194H TP53 L194P TP53 L194R TP53 L201F TP53 L252F TP53 L252H TP53 L252P TP53 L257P TP53 L257Q TP53 L257V TP53 L264I TP53 L265M TP53 L265P TP53 L265R TP53 L289F TP53 L289P TP53 L308M TP53 L330H TP53 L330R TP53 L344P TP53 L344R TP53 L348F TP53 L35F TP53 L45P TP53 M133I TP53 M133K TP53 M133L TP53 M133R TP53 M133T TP53 M133V TP53 M160I TP53 M160K TP53 M160L TP53 M160V TP53 M169I TP53 M169T TP53 M169V TP53 M237I TP53 M237K TP53 M237L TP53 M237R TP53 M237T TP53 M237V TP53 M243I TP53 M243K TP53 M243L 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TP53 P250L TP53 P250N TP53 P250Q TP53 P250S TP53 P278A TP53 P278F TP53 P278H TP53 P278L TP53 P278R TP53 P278S TP53 P278T TP53 P295L TP53 P295S TP53 P300A TP53 P300L TP53 P300S TP53 P301S TP53 P309S TP53 P316L TP53 P318A TP53 P322L TP53 P322R TP53 P34L TP53 P47L TP53 P67S TP53 P72S TP53 P75R TP53 P77A TP53 P82L TP53 P85S TP53 P87Q TP53 P89S TP53 P98L TP53 P98S TP53 Q136E TP53 Q136H TP53 Q136P TP53 Q136R TP53 Q144H TP53 Q144K TP53 Q144L TP53 Q144P TP53 Q144R TP53 Q165L TP53 Q165P TP53 Q165R TP53 Q167H TP53 Q167L TP53 Q167R TP53 Q16L TP53 Q192H TP53 Q192K TP53 Q192R TP53 Q317K TP53 Q317R TP53 Q331H TP53 Q331P TP53 Q354R TP53 R110C TP53 R110H TP53 R110L TP53 R110P TP53 R156C TP53 R156G TP53 R156H TP53 R156L TP53 R156P TP53 R156S TP53 R158C TP53 R158G TP53 R158H TP53 R158L TP53 R158P TP53 R174K TP53 R174M TP53 R174S TP53 R174W TP53 R175C TP53 R175G TP53 R175H TP53 R175L TP53 R175P TP53 R175S TP53 R181C TP53 R181H TP53 R181L TP53 R181P TP53 R181Y TP53 R196P TP53 R196Q TP53 R202C TP53 R202H 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TP53_ENST00000413465 V173E TP53_ENST00000413465 V173L TP53_ENST00000413465 V173M TP53_ENST00000413465 V216G TP53_ENST00000413465 V216M TP53_ENST00000413465 Y107D TP53_ENST00000413465 Y126D TP53_ENST00000413465 Y163C TP53_ENST00000413465 Y163D TP53_ENST00000413465 Y205C TP53_ENST00000413465 Y205N TP53_ENST00000413465 Y220C TP53_ENST00000413465 Y220H TP53_ENST00000413465 Y234C TP53_ENST00000413465 Y234H TP53_ENST00000413465 Y236C TP53_ENST00000414315 A27P TP53_ENST00000414315 A27V TP53_ENST00000414315 A29D TP53_ENST00000414315 A29T TP53_ENST00000414315 A6V TP53_ENST00000414315 C3F TP53_ENST00000414315 C3W TP53_ENST00000414315 C3Y TP53_ENST00000414315 C44F TP53_ENST00000414315 C44G TP53_ENST00000414315 C44R TP53_ENST00000414315 C44Y TP53_ENST00000414315 C9R TP53_ENST00000414315 C9W TP53_ENST00000414315 C9Y TP53_ENST00000414315 D54G TP53_ENST00000414315 G22V TP53_ENST00000414315 G67V TP53_ENST00000414315 H47L TP53_ENST00000414315 H47Q TP53_ENST00000414315 H47R TP53_ENST00000414315 H47Y TP53_ENST00000414315 H61D TP53_ENST00000414315 H61L TP53_ENST00000414315 H61P TP53_ENST00000414315 H61R TP53_ENST00000414315 H61Y TP53_ENST00000414315 H82R TP53_ENST00000414315 I30N TP53_ENST00000414315 I63F TP53_ENST00000414315 I63S TP53_ENST00000414315 I63T TP53_ENST00000414315 K32E TP53_ENST00000414315 L62F TP53_ENST00000414315 L62R TP53_ENST00000414315 P19A TP53_ENST00000414315 P19H TP53_ENST00000414315 P19R TP53_ENST00000414315 P19S TP53_ENST00000414315 P20L TP53_ENST00000414315 R24P TP53_ENST00000414315 R26G TP53_ENST00000414315 R26H TP53_ENST00000414315 R26L TP53_ENST00000414315 R43C TP53_ENST00000414315 R43G TP53_ENST00000414315 R43H TP53_ENST00000414315 R49C TP53_ENST00000414315 R64P TP53_ENST00000414315 R77G TP53_ENST00000414315 R81L TP53_ENST00000414315 R81Q TP53_ENST00000414315 S83I TP53_ENST00000414315 S83R TP53_ENST00000414315 T23P TP53_ENST00000414315 T79I TP53_ENST00000414315 V11A TP53_ENST00000414315 V25F TP53_ENST00000414315 V40D TP53_ENST00000414315 V40F TP53_ENST00000414315 V41E TP53_ENST00000414315 V41L TP53_ENST00000414315 V41M TP53_ENST00000414315 V84G TP53_ENST00000414315 V84M TP53_ENST00000414315 Y31C TP53_ENST00000414315 Y31D TP53_ENST00000414315 Y73C TP53_ENST00000414315 Y73N TP53_ENST00000545858 A45V TP53_ENST00000545858 A66P TP53_ENST00000545858 A66V TP53_ENST00000545858 A68D TP53_ENST00000545858 A68T TP53_ENST00000545858 C145F TP53_ENST00000545858 C145G TP53_ENST00000545858 C145S TP53_ENST00000545858 C145Y TP53_ENST00000545858 C149F TP53_ENST00000545858 C149W TP53_ENST00000545858 C149Y TP53_ENST00000545858 C42F TP53_ENST00000545858 C42W TP53_ENST00000545858 C42Y TP53_ENST00000545858 C48R TP53_ENST00000545858 C48Y TP53_ENST00000545858 C83F TP53_ENST00000545858 C83G TP53_ENST00000545858 C83R TP53_ENST00000545858 C83Y TP53_ENST00000545858 D93G TP53_ENST00000545858 E131D TP53_ENST00000545858 G106V TP53_ENST00000545858 G151C TP53_ENST00000545858 G151D TP53_ENST00000545858 G151S TP53_ENST00000545858 G152C TP53_ENST00000545858 G152D TP53_ENST00000545858 G152S TP53_ENST00000545858 G152V TP53_ENST00000545858 G61V TP53_ENST00000545858 H100L TP53_ENST00000545858 H100P TP53_ENST00000545858 H100R TP53_ENST00000545858 H100Y TP53_ENST00000545858 H121R TP53_ENST00000545858 H140Y TP53_ENST00000545858 H86L TP53_ENST00000545858 H86Q TP53_ENST00000545858 H86R TP53_ENST00000545858 H86Y TP53_ENST00000545858 I102F TP53_ENST00000545858 I102S TP53_ENST00000545858 I102T TP53_ENST00000545858 I139F TP53_ENST00000545858 I139S TP53_ENST00000545858 I139T TP53_ENST00000545858 I69N TP53_ENST00000545858 K39N TP53_ENST00000545858 K39R TP53_ENST00000545858 K39T TP53_ENST00000545858 L101F TP53_ENST00000545858 L101R TP53_ENST00000545858 L37F TP53_ENST00000545858 L37V TP53_ENST00000545858 M144I TP53_ENST00000545858 M144L TP53_ENST00000545858 M144T TP53_ENST00000545858 M153I TP53_ENST00000545858 M153T TP53_ENST00000545858 M153V TP53_ENST00000545858 N146D TP53_ENST00000545858 N146S TP53_ENST00000545858 N154I TP53_ENST00000545858 P58A TP53_ENST00000545858 P58H TP53_ENST00000545858 P58S TP53_ENST00000545858 P59L TP53_ENST00000545858 Q16L TP53_ENST00000545858 R103P TP53_ENST00000545858 R116G TP53_ENST00000545858 R120L TP53_ENST00000545858 R120Q TP53_ENST00000545858 R155L TP53_ENST00000545858 R155P TP53_ENST00000545858 R155Q TP53_ENST00000545858 R155W TP53_ENST00000545858 R63P TP53_ENST00000545858 R65G TP53_ENST00000545858 R65H TP53_ENST00000545858 R65L TP53_ENST00000545858 R82C TP53_ENST00000545858 R82G TP53_ENST00000545858 R82H TP53_ENST00000545858 R88C TP53_ENST00000545858 S122I TP53_ENST00000545858 S122R TP53_ENST00000545858 S134P TP53_ENST00000545858 S148C TP53_ENST00000545858 S148F TP53_ENST00000545858 S34F TP53_ENST00000545858 S34P TP53_ENST00000545858 T118I TP53_ENST00000545858 T62P TP53_ENST00000545858 V123G TP53_ENST00000545858 V123M TP53_ENST00000545858 V50A TP53_ENST00000545858 V64F TP53_ENST00000545858 V79D TP53_ENST00000545858 V80E TP53_ENST00000545858 V80L TP53_ENST00000545858 V80M TP53_ENST00000545858 Y112C TP53_ENST00000545858 Y112N TP53_ENST00000545858 Y127C TP53_ENST00000545858 Y127H TP53_ENST00000545858 Y141C TP53_ENST00000545858 Y141H TP53_ENST00000545858 Y143C TP53_ENST00000545858 Y33D TP53_ENST00000545858 Y70C TP53_ENST00000545858 Y70D TP63 L74F TP63 M499I TP63 S365L TP73 P195L TPBG A118E TPBG A118G TPBG R410G TPCN1 V514M TPD52L1 G72S TPH2 E26K TPH2 R471H TPH2 V467A TPK1 C104R TPK1 G48C TPK1 I155V TPM4_ENST00000344824 E240K TPO A53T TPO A826T TPO D240N TPO E28K TPO N557D TPO N557S TPO R152S TPO R762H TPO S322L TPP1 R375C TPP2 G330E TPPP2 M149I TPR D1589N TPR K877E TPR K877N TPR K877R TPR S2155L TPR V779I TPRG1 R137Q TPRKB R30G TPRX1 S200P TPRX1 S216P TPR_ENST00000367478 D1589N TPR_ENST00000367478 K877N TPR_ENST00000367478 K877R TPSAB1 A85T TPSAB1 G23V TPSAB1 H51R TPSD1 P22T TPTE D155N TPTE D527N TPTE L219I TPTE R126Q TPTE R489W TPTE S405L TPTE2 E262K TPTE2 G79A TPTE2 K39E TPTE2 R100Q TPTE2 R181Q TPTE2 S26G TPTE2_ENST00000400230 G116A TPTE2_ENST00000400230 S40R TPTE_ENST00000361285 D173N TPTE_ENST00000361285 R144Q TRA2A R244C TRA2B R187C TRA2B R62G TRA2B R65Q TRABD S205C TRAD R1265H TRAD V888M TRAF1 I65V TRAF1 N379S TRAF2 L268P TRAF2 Q457L TRAF3IP3 L375I TRAF3IP3 Q353E TRAF5 R145Q TRAF5 T232M TRAF6 E369K TRAF7 V170M TRAIP R307Q TRAIP R401G TRAIP S91F TRAK1 D569N TRAK1 G500S TRAK1 S142L TRAK1_ENST00000396175 D569N TRAK1_ENST00000396175 S142L TRAK1_ENST00000543338 S200L TRAK2 G702S TRAM1L1 S279P TRANK1 E1241G TRANK1 F1457L TRANK1_ENST00000429976 F2007L TRAP1 R402Q TRAPPC10 G983D TRAPPC10 G983S TRAPPC8 R537L TRAPPC8 S237L TRAPPC8 S237P TRAPPC9 G122V TRAPPC9 R651Q TRDMT1 G155S TREM1 P202L TREM1 R97H TREML2 E94G TREML4 P48S TRERF1 D1164G TRERF1 D1164N TRERF1 E629K TRERF1 V1166D TRERF1 V992I TREX2 R156H TRH V148A TRHDE A335V TRHDE A526T TRHDE D500G TRHDE D500N TRHDE D500Y TRHDE R353Q TRHDE T318M TRHR F196V TRHR F363Y TRHR K344T TRIB1 F371L TRIB1 F371S TRIB1_ENST00000311922 F371S TRIB2 D211N TRIB3 R29H TRIM10 R281W TRIM10_ENST00000449742 R122W TRIM10_ENST00000449742 R281W TRIM13 Q195K TRIM16 D342G TRIM22 A75T TRIM22 D282N TRIM22 V371L TRIM23 H184R TRIM23 R289Q TRIM23 R396Q TRIM23 T442A TRIM24 K1002R TRIM24 R339C TRIM24 T577A TRIM24_ENST00000378381 R297C TRIM24_ENST00000378381 T501A TRIM25 K301R TRIM25 R315L TRIM29 F194I TRIM3 C736Y TRIM3 G371S TRIM31 P243L TRIM32 E547G TRIM33 A53P TRIM33 E811K TRIM33 P885S TRIM33 R272H TRIM36 P162L TRIM36_ENST00000282369 P162L TRIM39_ENST00000376656 K260Q TRIM41 W82G TRIM41_ENST00000351937 W82G TRIM42 N421S TRIM42 R217C TRIM42 R245C TRIM42 R303H TRIM42 S385R TRIM43 E207G TRIM43_ENST00000272395 E207G TRIM44 D331N TRIM46 E368D TRIM46 V609I TRIM47 R557C TRIM48 I95T TRIM48 P128H TRIM48 S33N TRIM48 Y176H TRIM48_ENST00000417545 I111T TRIM48_ENST00000417545 P144H TRIM48_ENST00000417545 S49N TRIM48_ENST00000417545 Y192H TRIM49 S327R TRIM49C S298N TRIM49C S327R TRIM49C_ENST00000448984 S298N TRIM49C_ENST00000448984 S327R TRIM5 A41T TRIM52 E66D TRIM54 H74R TRIM55 A437V TRIM55 K250R TRIM58 G361E TRIM58 P368Q TRIM58 R311C TRIM58 T374M TRIM58 V481I TRIM58 W3S TRIM5_ENST00000380034 A41T TRIM5_ENST00000396847 A41T TRIM6 L342I TRIM60 A398V TRIM63_ENST00000374272 E200K TRIM64B E96A TRIM64C V366A TRIM65 A173D TRIM65 H383N TRIM67 D606N TRIM67 G556W TRIM67 G574S TRIM67 N627S TRIM67 V719M TRIM67_ENST00000366653 D606N TRIM67_ENST00000366653 M679V TRIM67_ENST00000366653 N627S TRIM68 R315C TRIM68 R83H TRIM71 A357V TRIM71 R807C TRIM8 V512I TRIM9 R299H TRIM9_ENST00000360392 R548C TRIML1 F445I TRIML1 M7L TRIML2 A277T TRIO R1982H TRIO R2876C TRIO R661W TRIO T1317M TRIOBP P389S TRIOBP_ENST00000344404 D705N TRIOBP_ENST00000344404 D813G TRIOBP_ENST00000344404 N591S TRIOBP_ENST00000344404 P2102S TRIOBP_ENST00000344404 P443S TRIOBP_ENST00000344404 P994H TRIOBP_ENST00000344404 R511K TRIOBP_ENST00000344404 R679Q TRIOBP_ENST00000344404 R727W TRIOBP_ENST00000344404 T447A TRIOBP_ENST00000344404 T594A TRIOBP_ENST00000344404 T715I TRIP10 D260N TRIP10 L268P TRIP11 D160N TRIP11 L284P TRIP11 L546P TRIP12 A1583S TRIP12 A179T TRIP12 A968D TRIP12 K174E TRIP12 R1145H TRIP13 V249M TRIP6 Q278H TRIP6 R352W TRMT11 R66L TRMT5 G436R TRMT5 V385A TRMT5 V385I TRMT6 T193M TRMU D172H TRO R433W TROAP R4L TROAP Y592C TROVE2 R237C TRO_ENST00000173898 L1113F TRO_ENST00000173898 R433W TRPA1 D260N TRPA1 K491N TRPA1 K54N TRPA1 Q1000K TRPA1 T1055A TRPA1 T1055S TRPC1 F565L TRPC1 R114Q TRPC3 R101C TRPC3 R116H TRPC3 V710A TRPC4 G425R TRPC4 K792N TRPC4 R491H TRPC4 R694S TRPC4 T675A TRPC4AP I286T TRPC4_ENST00000379681 G425R TRPC4_ENST00000379681 K797N TRPC4_ENST00000379681 T675A TRPC5 E156K TRPC5 G689V TRPC5 R165Q TRPC5 S490L TRPC6 E927Q TRPC6 S270P TRPC6 S270Y TRPC7 A171V TRPC7 D210V TRPC7 R120C TRPC7 R344H TRPC7 S394Y TRPC7 V86M TRPM1 A165P TRPM1 A826T TRPM1 K950T TRPM1 L703M TRPM1 R1123H TRPM1 R473C TRPM2 R1330H TRPM2 R1336H TRPM2 V297M TRPM3 A1165T TRPM3 Q167K TRPM3 R855H TRPM3 V971A TRPM3_ENST00000377110 Q320K TRPM3_ENST00000377110 R117Q TRPM3_ENST00000377110 R983H TRPM3_ENST00000377110 V1099A TRPM3_ENST00000423814 A1297T TRPM3_ENST00000423814 Q322K TRPM3_ENST00000423814 R119Q TRPM3_ENST00000423814 R987H TRPM3_ENST00000423814 V1103A TRPM5 E566K TRPM6 E1150G TRPM6 R995H TRPM7 M830V TRPM7 R1862C TRPM7 R274I TRPM7 R843Q TRPM7 S1427P TRPM7 S1427Y TRPM7 T860M TRPM7 W758C TRPM8 A152T TRPS1 A619V TRPS1 P1138L TRPS1 R1125W TRPS1 R297P TRPS1 R902C TRPS1_ENST00000395715 A619V TRPV1 A631P TRPV1_ENST00000399756 A620P TRPV3 R733W TRPV4 R594H TRPV5 A124T TRPV5 R157H TRPV5 R359H TRPV5 R492H TRPV5 V348I TRRAP D2401H TRRAP G1024C TRRAP G3714E TRRAP K159E TRRAP P2008L TRRAP R1015W TRRAP R119C TRRAP R1216Q TRRAP R1651H TRRAP R2284W TRRAP R3270H TRRAP R3486W TRRAP R816W TRRAP R893H TRRAP S1084L TRRAP S722F TRRAP T2913M TRRAP T848A TRRAP V3329A TRRAP_ENST00000359863 D2419H TRRAP_ENST00000359863 G1024C TRRAP_ENST00000359863 G3743E TRRAP_ENST00000359863 K159E TRRAP_ENST00000359863 P2026L TRRAP_ENST00000359863 R1015W TRRAP_ENST00000359863 R1216Q TRRAP_ENST00000359863 R3515W TRRAP_ENST00000359863 R816W TRRAP_ENST00000359863 R893H TRRAP_ENST00000359863 S1084L TRRAP_ENST00000359863 S722F TRRAP_ENST00000359863 T848A TRRAP_ENST00000359863 V3358A TRUB1 R125Q TSC1 A659V TSC1 R1097C TSC1 S1043G TSC2 A1141T TSC2 L1216I TSC2 R901C TSC2 V472A TSC2 V472M TSC2_ENST00000219476 L1216I TSC2_ENST00000219476 R901C TSC2_ENST00000219476 V1500M TSC2_ENST00000219476 V472A TSEN15 G94C TSEN54 D451G TSGA10 R330C TSGA10 S290R TSGA10 V321A TSGA13 S14P TSHR A428V TSHR A623I TSHR A623S TSHR A623V TSHR D619G TSHR D633E TSHR D633H TSHR D633N TSHR D633Y TSHR F631I TSHR F631L TSHR F666L TSHR G336R TSHR G336V TSHR I486F TSHR I486M TSHR I568T TSHR I630L TSHR I630T TSHR I635V TSHR L417P TSHR L512Q TSHR L512R TSHR L629F TSHR L629S TSHR L677P TSHR M453T TSHR P162H TSHR P639Q TSHR P639S TSHR S281I TSHR S281N TSHR S281T TSHR S425G TSHR S425I TSHR S505N TSHR T632A TSHR T632I TSHR V656F TSHR V656I TSHR_ENST00000554435 P162H TSHZ1 D337H TSHZ1 R881M TSHZ1 S515F TSHZ1 S970L TSHZ2 A222T TSHZ2 A222V TSHZ2 E1022K TSHZ2 R329Q TSHZ2 R568Q TSHZ2 S519Y TSHZ2 T1016A TSHZ2 T837A TSHZ2 T910M TSHZ3 D58N TSHZ3 E124D TSHZ3 G184S TSHZ3 L255P TSHZ3 M566I TSHZ3 P402L TSHZ3 P632L TSHZ3 P885L TSHZ3 S211L TSHZ3_ENST00000240587 D241N TSHZ3_ENST00000240587 E307D TSHZ3_ENST00000240587 G367S TSHZ3_ENST00000240587 P1068L TSHZ3_ENST00000240587 P585L TSHZ3_ENST00000240587 P815L TSHZ3_ENST00000240587 S394L TSLP R149C TSN S142L TSNAXIP1 K446N TSNAXIP1 R208W TSPAN14 S129G TSPAN17 A246T TSPAN18 E216K TSPAN2 E158K TSPAN2 T200M TSPAN5 C80Y TSPAN7 F94S TSPEAR A166T TSPEAR D528N TSPEAR I380T TSPYL2 R289C TSPYL5 E390D TSR1 E437K TSSK1B_ENST00000390666 R232H TSSK1B_ENST00000390666 R237C TSSK6 L236V TSSK6 V195E TTBK1 A1010T TTBK1 A79V TTBK1 G510C TTBK1 P855S TTBK1 R214Q TTBK2 D635G TTBK2 R1173W TTC1 Y212C TTC12 M73L TTC13 R250W TTC13 S549P TTC14 D695N TTC15 E717G TTC15 L563P TTC15 M300V TTC15 S301G TTC15 T418P TTC16 R173H TTC17 R870C TTC18 E470K TTC21A G609S TTC21A S270Y TTC21B R981H TTC23L L144F TTC23L V172M TTC25 T227M TTC26 D18N TTC27 R528H TTC29 D92N TTC29 K339N TTC3 K1289R TTC3 R1999C TTC3 V1642G TTC30A D11N TTC30A P278S TTC30B G228D TTC30B Y357H TTC33 V33A TTC35 S235L TTC38 D197N TTC38 P211L TTC39A A376T TTC39A G148V TTC4 K213N TTC5 E101K TTC7B R271W TTC7B R539H TTC7B R79H TTC9B A188T TTF1 R401Q TTF1 R666C TTF1 S240P TTI1 A263V TTI1 L181V TTI1 L780P TTK R854G TTK T637A TTK_ENST00000369798 R854G TTK_ENST00000369798 T637A TTLL12 T125M TTLL2 G306W TTLL2 S459L TTLL2 V91I TTLL4 R1008Q TTLL5 E1234K TTLL5 E20K TTLL7 R669Q TTN A12045V TTN A12056T TTN A15377T TTN A16091S TTN A1868V TTN A63T TTN C14438G TTN C7070F TTN D26088N TTN D6342N TTN E18435K TTN E1926K TTN E23401K TTN E7766K TTN E8695D TTN F16528L TTN F6766Y TTN G10482E TTN G14372D TTN G2739R TTN G9524C TTN H15879Y TTN H22354R TTN I10447V TTN I11002T TTN I13860V TTN I18141T TTN I2725M TTN I2725T TTN I2725V TTN I8951V TTN K14359E TTN K18635E TTN K26228E TTN K3058N TTN K6268R TTN K7644R TTN L11636P TTN L15222P TTN L15314P TTN L18025P TTN L25159P TTN L26480P TTN L7304P TTN N6361D TTN N6361S TTN P11800S TTN P12826L TTN P17026S TTN P26166L TTN P3192L TTN Q369H TTN Q6446H TTN R11561Q TTN R11667G TTN R11749G TTN R11862H TTN R14835W TTN R14991H TTN R15784W TTN R16092L TTN R16298C TTN R1637L TTN R1637Q TTN R18151C TTN R20440C TTN R2074W TTN R2271H TTN R22968C TTN R24089H TTN R24401C TTN R24987W TTN R25021T TTN R25529C TTN R25818H TTN R3147Q TTN R328H TTN R6010G TTN R6043Q TTN R6405H TTN R762C TTN R7840H TTN R8131I TTN R8276Q TTN R8771H TTN R8771S TTN S2483C TTN S5398P TTN S8421N TTN T10524A TTN T10527N TTN T1687M TTN T1861A TTN T21494A TTN T23193A TTN T9780M TTN V10514A TTN V11411A TTN V2055A TTN V850I TTN V8658A TTN V865I TTN W11689C TTN Y18577C TTN Y18577N TTN Y7691H TTN Y8211C TTN_ENST00000342175 A12237V TTN_ENST00000342175 A12248T TTN_ENST00000342175 A63T TTN_ENST00000342175 C14630G TTN_ENST00000342175 C7262F TTN_ENST00000342175 D26280N TTN_ENST00000342175 D6534N TTN_ENST00000342175 E1926K TTN_ENST00000342175 E7958K TTN_ENST00000342175 E8887D 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USH2A W4464R USHBP1 M439V USHBP1 T121A USP1 P239L USP1 S575G USP1 S575R USP11 A286T USP13 S356N USP14 S241G USP15 C477S USP16 V503A USP19_ENST00000434032 R1380H USP20_ENST00000315480 R889H USP20_ENST00000372429 R889H USP21 A125V USP22 C283Y USP22 T532P USP24 A821V USP24 E944G USP24 F1516L USP24 R1368C USP24 S1087P USP24 T657A USP24_ENST00000294383 A904V USP24_ENST00000294383 F1599L USP24_ENST00000294383 R1451C USP24_ENST00000294383 S1170P USP24_ENST00000294383 T740A USP25 E600D USP25 G946R USP25 I957T USP25 L881P USP25 R1049Q USP25 T427M USP26 P317Q USP26 R861Q USP26 R874G USP26 S445Y USP26 T659M USP28 D684N USP28 E965K USP28 N48Y USP29 F81L USP29 L454P USP29 N209K USP29 S536G USP31 D391N USP31 E1291G USP31 G467V USP31 K1253T USP31 R350L USP31 R516C USP31 R584H USP31 T754M USP32 A1121V USP32 E793K USP32 K207N USP32 R935W USP32 V454L USP33 R36Q USP34 D624G USP34 F2275C USP34 F2924L USP34 K1061R USP34 Q282R USP34 R211H USP34 R2950G USP34 S1433G USP35 E643K USP35_ENST00000263311 E887K USP36 K956R USP36_ENST00000312010 K956R USP37 A918V USP38 D939G USP38 D939Y USP38 I175M USP38 R577H USP4 R501G USP4 R8C USP40 S851L USP40_ENST00000450966 S851L USP42 R661L USP42 R712H USP42 V301I USP42_ENST00000306177 R584H USP43 M961T USP44 R319G USP47 E1070V USP47 R286Q USP48 K940E USP48 M415V USP49 A54T USP49 L496P USP49 P476S USP49 V35M USP5 I784V USP53 D398G USP53 I337F USP53 R580Q USP54_ENST00000408019 A147V USP6 T72R USP6 V39I USP6NL A492T USP6NL A531T USP6NL G388R USP6_ENST00000250066 T72R USP6_ENST00000250066 V39I USP7 A27V USP7 D643N USP7 K934E USP8 F79L USP8 P720Q USP8 R54C USP9X D1905G USP9X D62N USP9X M1909V USP9X_ENST00000324545 D1912G USP9Y I1412V USP9Y K795E USPL1 S1028N UST D311G UST G130R UST I389N UTP11L R25Q UTP14A K258Q UTP14C S456P UTP15 V203I UTP20 A1114T UTP20 K1645R UTP20 R1866C UTP6 R74H UTRN E547K UTRN E726K UTS2R V90M UTY_ENST00000331397 S1018Y UVRAG D98N UVRAG I53V UVRAG N561K UVRAG V110A UXS1 V105L VAC14 I672F VAC14 R233C VANGL1 G308W VANGL1 R212Q VANGL1 R212W VASH1 F197L VASH1 V58I VASH1_ENST00000554237 V58I VASN E384A VAT1L V139I VAV1 D517E VAV1 E201K VAV1 R678Q VAV2 E706D VAV2 E706G VAV2 E706V VAV2 K638N VAV2_ENST00000371850 E716D VAV2_ENST00000371850 E716G VAV2_ENST00000371850 E716V VAV3 A52V VAV3 D374G VAV3 E685K VAV3 Q618R VAV3 R193Q VAV3_ENST00000415432 Q58R VAX1 Q160E VCAM1 P542L VCAM1 R435Q VCAM1 T72M VCAM1 V430M VCAN A2474P VCAN D203N VCAN E2624D VCAN G838E VCAN I493T VCAN K1723N VCAN Q915H VCAN R1125H VCAN S2864Y VCAN S727P VCAN T1763A VCAN V2685I VCPIP1 E1201K VCPIP1 M371V VCX A108T VCX E16D VCX3B M180V VCX3B V160M VDR R402P VEGFC E309K VEGFC V159I VEPH1 E789K VEPH1 P239S VEPH1 S333G VEPH1 S522P VEPH1 W646L VEZF1 R91C VEZF1 T332A VGLL1 R26Q VGLL3 A46V VGLL3 D311N VGLL4 T3M VHL A122E VHL A149T VHL A207T VHL A207V VHL C162F VHL C162R VHL C162W VHL C162Y VHL D121E VHL D121G VHL D121Y VHL D126G VHL D143E VHL D143G VHL E10G VHL E12K VHL E160K VHL E189K VHL E204G VHL E26G VHL E36K VHL E41V VHL E51Q VHL F119L VHL F136S VHL F136V VHL F148S VHL G106D VHL G114A VHL G114C VHL G114D VHL G114R VHL G114S VHL G144R VHL G39S VHL G49D VHL G93R VHL H110P VHL H115N VHL H115Y VHL I109N VHL I109S VHL I151F VHL I151M VHL I151N VHL I151S VHL I151T VHL I180N VHL K171N VHL L101P VHL L118P VHL L128H VHL L128P VHL L128R VHL L129P VHL L153P VHL L158P VHL L158Q VHL L158V VHL L163P VHL L169P VHL L184P VHL L184R VHL L188P VHL L188Q VHL L188R VHL L198P VHL L85P VHL L89H VHL L89P VHL L89R VHL M1I VHL N131K VHL N131S VHL N131Y VHL N78D VHL N78H VHL N78I VHL N78K VHL N78S VHL N78T VHL N78Y VHL N90I VHL P138R VHL P154L VHL P40S VHL P81S VHL P86H VHL P86L VHL P86S VHL P95R VHL Q132H VHL Q145R VHL Q164H VHL Q164P VHL Q195R VHL Q96P VHL R107P VHL R161P VHL R167G VHL R167Q VHL R167W VHL R200W VHL R82G VHL R82P VHL S111G VHL S111I VHL S111N VHL S111R VHL S139P VHL S38F VHL S65L VHL S65W VHL S68P VHL S68T VHL S80N VHL S80R VHL T157I VHL V130D VHL V130F VHL V130L VHL V155L VHL V155M VHL V165D VHL V166A VHL V166D VHL V166F VHL V166G VHL V166I VHL V170A VHL V170D VHL V194A VHL V74D VHL V84L VHL W117C VHL W117G VHL W117L VHL W117R VHL W88C VHL W88G VHL W88L VHL W88R VHL W88S VHL Y112D VHL Y175D VHL Y98F VHL Y98N VIL1 A6T VIL1 V445I VILL S618P VIM A232V VIM R381G VIPR1 R324W VIPR2 F217L VIPR2 F366L VIPR2 S187Y VIPR2 V200L VIT A88T VIT G344V VLDLR A799T VLDLR G795E VLDLR R231H VLDLR R448Q VMA21 S22L VMP1 E369Q VN1R1 H289D VN1R2 R387Q VN1R4 F23L VN1R4 I107V VN1R4 L78I VNN1 G385R VNN2 E448K VOPP1 R53W VPRBP D1009G VPRBP H25R VPRBP I77L VPRBP K1228Q VPS13A G2467S VPS13A K154T VPS13A K2065N VPS13A_ENST00000357409 G2467S VPS13A_ENST00000357409 K154T VPS13A_ENST00000357409 K2065N VPS13A_ENST00000376634 G2467S VPS13A_ENST00000376634 K154T VPS13A_ENST00000376634 K2065N VPS13B A1013S VPS13B A3628V VPS13B F2936L VPS13B H303R VPS13B R1411H VPS13B R2303W VPS13B R3530Q VPS13B R3530W VPS13B S1189P VPS13B S899P VPS13B T787N VPS13B_ENST00000357162 A1013S VPS13B_ENST00000357162 A3603V VPS13B_ENST00000357162 F2911L VPS13B_ENST00000357162 R2278W VPS13B_ENST00000357162 R3505Q VPS13B_ENST00000357162 S1189P VPS13B_ENST00000357162 S899P VPS13C D1359Y VPS13C E1810K VPS13C R2294Q VPS13C R3388Q VPS13C S1076T VPS13C T3732M VPS13C Y357C VPS13C_ENST00000395896 E1810K VPS13C_ENST00000395896 R3388Q VPS13D P2889A VPS16 C470Y VPS18 R48H VPS24 A187V VPS24 R28K VPS37A R294T VPS37B Y191S VPS39 A160V VPS52 S657G VPS72 I318V VPS8 P565S VRK2 R5I VRK2 Y187F VRK3 E150K VRK3 R461C VRTN A483E VRTN R194H VRTN V133M VSIG2 S212L VSNL1 E14G VSTM1 E18K VSTM2A G75V VSTM2L G66S VSTM4 A59V VSTM4 R100C VSTM4 R208W VSTM4_ENST00000298454 A59V VSTM4_ENST00000298454 R100C VTI1A L207P VTN R450H VWA1 D280N VWA2 L137P VWA2 S378C VWA3A R212C VWA3A V57I VWA3A_ENST00000389398 R1110C VWA3A_ENST00000389398 R682H VWA3A_ENST00000389398 V955I VWA3B N916D VWA5A K751N VWA5A L230P VWCE R919C VWF N2725S VWF R1597W VWF R2778W VWF V86M WAPAL M315I WAS G11R WASF3 A282V WASF3 D502N WASF3 R202C WASH3P G374S WASH3P G425R WASH3P L386V WBP1 T110A WBP11 D263G WBP11 H379Y WBP11 R86C WBP4 E219K WBP4 K113R WBP5 R96Q WBSCR17 E433D WBSCR17 E433K WBSCR17 G338S WBSCR17 L226M WBSCR17 P424L WBSCR17 R228C WBSCR17 R287Q WBSCR17 R287W WBSCR17 S329L WBSCR17 V161M WBSCR17 V172M WBSCR27 Q107R WDFY3 E998G WDFY4 R1009C WDFY4 R1091C WDFY4 R2211W WDFY4 R518Q WDFY4 V400I WDHD1 K1108Q WDPCP R227Q WDR1 G378V WDR11 Q1068R WDR11 V275L WDR13 R345H WDR13_ENST00000218056 R345H WDR16 A479T WDR17 I259V WDR1_ENST00000499869 G377V WDR23 G435R WDR24 R109H WDR24 R241H WDR24 R69H WDR24_ENST00000248142 R131H WDR24_ENST00000248142 R171H WDR3 E841K WDR31 T64A WDR33 K216T WDR33 R1196C WDR33 R1308Q WDR35 R470Q WDR37 S356P WDR4 R341C WDR4 R388W WDR44 E69D WDR44 G747R WDR44 R736G WDR44_ENST00000435384 E69D WDR44_ENST00000435384 G747R WDR45 R315H WDR45L P296L WDR46 R519Q WDR48 A93S WDR49 L454R WDR49 P624H WDR49 T299M WDR52 A157T WDR52 R585C WDR52_ENST00000393845 V375G WDR55 R248H WDR59 A807V WDR59 K630R WDR5B E288G WDR5B S240R WDR6 F390L WDR6 P435S WDR60 F267L WDR60 G754V WDR60 R84M WDR62 R1164H WDR63 L380I WDR66 E61K WDR66 L641I WDR66 V533A WDR66 Y293C WDR67 D638N WDR69 K253N WDR69 L341V WDR69 N400S WDR7 I1113N WDR7 I486V WDR7 P996L WDR70 V392A WDR72 L862V WDR72 R601Q WDR72 S894Y WDR75 D794G WDR77 V282M WDR78 A470T WDR78 A789S WDR78 D118G WDR78 D118Y WDR78 L741S WDR81 R179L WDR81 R360C WDR81_ENST00000409644 R1411C WDR81_ENST00000437219 R208C WDR81_ENST00000437219 R27L WDR87 A2537V WDR87 E1677D WDR87 K102N WDR87 R867Q WDR88 R343G WDR88 V438M WDR90 V537A WDR91 A731T WDR91 R258C WDR91 R329W WDR93 G316R WDR93 L263S WDR96 E1157G WDR96 E1157K WDR96 F340V WDR96 G107C WDR96 P1091L WDR96 S1001F WDR96 S296L WDR96 V446M WDR96 V477M WDR96 V70A WDR96 V70I WDTC1 D663N WEE1 K255E WEE1 K255R WEE1 R361L WEE2 N332S WEE2 R196I WFDC10B I41T WFDC10B I41V WFDC10B S49L WFDC5 P120H WFIKKN1 A143V WFIKKN2 L230P WFS1 P885S WFS1 R94G WHSC1 E1087G WHSC1 E1099K WHSC1L1_ENST00000317025 R1310Q WIF1 E342K WIF1_ENST00000286574 E342K WIPF1 A138V WIPF1 G132R WIPF2 A80S WIPF2 P251T WIPF2 R184W WIPF2 T168M WIPF3 A48V WIPI1 G313R WIPI2 E65G WISP1 R61H WISP2_ENST00000372868 R22H WISP3 K233T WNK1 I1172M WNK1 Q1799E WNK1 S2190P WNK1_ENST00000537687 R740C WNK1_ENST00000537687 S2450P WNK2 P1917R WNK3 E1408K WNK3 H1651Q WNK3 H928R WNK3 L1121P WNK3 L1533F WNK3 S1634P WNK3 S1771F WNK3 S854C WNK3 T489M WNK4 S1231R WNT11 A79D WNT11 C344Y WNT11 R221C WNT16 G35S WNT2 D226N WNT2B R101Q WNT2B R112H WNT2B V127I WNT3 R298W WNT3 T321M WNT3A E68K WNT6_ENST00000233948 R50W WNT7A M307I WNT7A T338M WNT7A V236I WNT8A A343S WNT8A V25A WNT8B_ENST00000343737 R79C WNT9A T134A WRN A796V WSB2 P390L WSCD2 R18H WT1 C282R WT1 C385Y WT1 D396N WT1 F154S WT1 G379V WT1 H373R WT1 H397Q WT1 K371E WT1 N266S WT1 R312Q WT1 R333K WT1 R366C WT1 R366H WT1 R394G WT1 R394P WT1 R394Q WT1 R394W WT1 R433C WT1 S273G WT1 T277I WT1 Y327H WT1_ENST00000379079 C138R WT1_ENST00000379079 C241Y WT1_ENST00000379079 H229R WT1_ENST00000379079 K227E WT1_ENST00000379079 R222H WT1_ENST00000379079 R250W WT1_ENST00000379079 S129G WWC1 Q1062R WWC3 A35T WWC3 S355G WWC3 V184I WWOX_ENST00000299644 S311P WWOX_ENST00000408984 V255I WWP1 A2T WWTR1 F299L WWTR1 F299S WWTR1 F299V XAB2 R577W XAF1 C112Y XCL2 R30G XCR1 A33T XCR1 I166V XCR1 R139H XDH N146H XDH T1033A XG M139T XG M139V XG V144M XIAP H178R XIRP1 D334G XIRP1 R1680K XIRP1 V890M XIRP2 A224V XIRP2 A3258T XIRP2 D688G XIRP2 E3260G XIRP2 E737K XIRP2 H700N XIRP2 L1917P XIRP2 L557M XIRP2 M666T XIRP2 P178H XIRP2 P2342T XIRP2 Q1158R XIRP2 R105H XIRP2 S2633L XIRP2 S748L XIRP2 T1858M XIRP2_ENST00000409728 A257V XIRP2_ENST00000409728 P178H XIRP2_ENST00000409728 R105H XIRP2_ENST00000409728 R461Q XK A348T XKR3 I219T XKR3 R59Q XKR4 G502S XKR6 R268Q XKR6 R291H XKR6 R576H XKR6 T555M XKR7 R382H XKR9 V19A XKRX F285L XKRX R443Q XPC D121G XPC Q742E XPNPEP1 A51P XPNPEP1 S299R XPNPEP2 T146N XPNPEP3 G453S XPO1 E571K XPO1 E571V XPO1 N735Y XPO1 Q821E XPO1 R749Q XPO5 E845V XPO6 G801E XPO6_ENST00000304658 G801E XPO7 R663Q XPO7 R97W XPOT C268S XPOT I848N XPOT R541W XPOT T115A XPOT V775A XRCC1 R246G XRCC4 I181F XRCC6 E418G XRN1 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P109T ZCCHC6 E1219K ZCCHC6 G900S ZCCHC9 P258L ZCWPW2 E267D ZCWPW2 S46G ZCWPW2 Y68C ZDBF2 E888K ZDBF2 R1729C ZDBF2 R2040W ZDBF2_ENST00000374423 R1729C ZDBF2_ENST00000374423 R2040W ZDHHC1 C153F ZDHHC1 L250R ZDHHC1 T224M ZDHHC11 A303D ZDHHC11_ENST00000424784 A303D ZDHHC11_ENST00000424784 M403I ZDHHC15 N99K ZDHHC15 T335M ZDHHC15 V40A ZDHHC16 R5Q ZDHHC17 W328L ZDHHC2 D256Y ZDHHC23 R236H ZDHHC4 P104S ZDHHC4 R300H ZDHHC5 P114S ZDHHC5 P2H ZDHHC8 R523H ZEB1 A1015V ZEB1 R181H ZEB1 T308A ZEB2 D983N ZEB2 E1094K ZEB2 E1183K ZEB2 L226P ZEB2 R156H ZEB2 R302Q ZER1 P38L ZFAND6 E133K ZFAND6 T127A ZFAT R162Q ZFAT R399H ZFAT V336A ZFAT V507A ZFAT_ENST00000377838 R174Q ZFAT_ENST00000377838 R411H ZFAT_ENST00000377838 V348A ZFAT_ENST00000377838 V519A ZFC3H1 G691V ZFC3H1 M533I ZFC3H1 M533V ZFHX3 A1099V ZFHX3 D959Y ZFHX3 E1065Q ZFHX3 L2350R ZFHX4 A2410T ZFHX4 A3418T ZFHX4 A3533V ZFHX4 D1666Y ZFHX4 E115K ZFHX4 E237D ZFHX4 F227L ZFHX4 G2928V ZFHX4 G3013R ZFHX4 L2865I ZFHX4 N949Y ZFHX4 P3095S ZFHX4 P670L ZFHX4 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