Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49089927C>ACA384714032DHHc.1123G>T (p.Val375Phe)
c.982G>T (p.Val328Phe)
c.781G>T (p.Val261Phe)
12g.49089927C>GCA384714033DHHc.1123G>C (p.Val375Leu)
c.982G>C (p.Val328Leu)
c.781G>C (p.Val261Leu)
12g.49089927C>TCA384714034DHHc.1123G>A (p.Val375Ile)
c.982G>A (p.Val328Ile)
c.781G>A (p.Val261Ile)
 gnomAD v4
12g.49089928G>ACA479715767DHHc.1122C>T (p.Ala374=)
c.981C>T (p.Ala327=)
c.780C>T (p.Ala260=)
 gnomAD v4
12g.49089928G>CCA479715768DHHc.1122C>G (p.Ala374=)
c.981C>G (p.Ala327=)
c.780C>G (p.Ala260=)
 gnomAD v4
12g.49089928G>TCA479715769DHHc.1122C>A (p.Ala374=)
c.981C>A (p.Ala327=)
c.780C>A (p.Ala260=)
12g.49089929G>ACA384714036DHHc.1121C>T (p.Ala374Val)
c.980C>T (p.Ala327Val)
c.779C>T (p.Ala260Val)
 gnomAD v4
12g.49089929G>CCA384714038DHHc.1121C>G (p.Ala374Gly)
c.980C>G (p.Ala327Gly)
c.779C>G (p.Ala260Gly)
12g.49089929G>TCA384714044DHHc.1121C>A (p.Ala374Asp)
c.980C>A (p.Ala327Asp)
c.779C>A (p.Ala260Asp)
 gnomAD v4
12g.49089930C>ACA384714047DHHc.1120G>T (p.Ala374Ser)
c.979G>T (p.Ala327Ser)
c.778G>T (p.Ala260Ser)
 gnomAD v4
12g.49089930C>GCA384714062DHHc.1120G>C (p.Ala374Pro)
c.979G>C (p.Ala327Pro)
c.778G>C (p.Ala260Pro)
12g.49089930C>TCA384714065DHHc.1120G>A (p.Ala374Thr)
c.979G>A (p.Ala327Thr)
c.778G>A (p.Ala260Thr)
 gnomAD v4
12g.49089931C>ACA479715773DHHc.1119G>T (p.Gly373=)
c.978G>T (p.Gly326=)
c.777G>T (p.Gly259=)
12g.49089931C=CA2034981914DHHc.1119G= (p.Gly373=)
c.978G= (p.Gly326=)
c.777G= (p.Gly259=)
12g.49089931C>GCA479715774DHHc.1119G>C (p.Gly373=)
c.978G>C (p.Gly326=)
c.777G>C (p.Gly259=)
 dbSNP gnomAD v2 gnomAD v4
12g.49089931C>TCA479715775DHHc.1119G>A (p.Gly373=)
c.978G>A (p.Gly326=)
c.777G>A (p.Gly259=)
 gnomAD v4
12g.49089932C>ACA384714071DHHc.1118G>T (p.Gly373Val)
c.977G>T (p.Gly326Val)
c.776G>T (p.Gly259Val)
 gnomAD v4
12g.49089932C>GCA384714074DHHc.1118G>C (p.Gly373Ala)
c.977G>C (p.Gly326Ala)
c.776G>C (p.Gly259Ala)
12g.49089932C>TCA384714073DHHc.1118G>A (p.Gly373Glu)
c.977G>A (p.Gly326Glu)
c.776G>A (p.Gly259Glu)
12g.49089933C>ACA384714078DHHc.1117G>T (p.Gly373Trp)
c.976G>T (p.Gly326Trp)
c.775G>T (p.Gly259Trp)
 gnomAD v4
12g.49089933C>GCA384714082DHHc.1117G>C (p.Gly373Arg)
c.976G>C (p.Gly326Arg)
c.775G>C (p.Gly259Arg)
 gnomAD v4
12g.49089933C>TCA384714086DHHc.1117G>A (p.Gly373Arg)
c.976G>A (p.Gly326Arg)
c.775G>A (p.Gly259Arg)
 gnomAD v4
12g.49089934G>ACA479715777DHHc.1116C>T (p.Gly372=)
c.975C>T (p.Gly325=)
c.774C>T (p.Gly258=)
 gnomAD v4
12g.49089934G>CCA236651373DHHc.1116C>G (p.Gly372=)
c.975C>G (p.Gly325=)
c.774C>G (p.Gly258=)
 dbSNP
12g.49089934G=CA2034981915DHHc.1116C= (p.Gly372=)
c.975C= (p.Gly325=)
c.774C= (p.Gly258=)
12g.49089934G>TCA479715778DHHc.1116C>A (p.Gly372=)
c.975C>A (p.Gly325=)
c.774C>A (p.Gly258=)
 gnomAD v4
12g.49089935C>ACA384714087DHHc.1115G>T (p.Gly372Val)
c.974G>T (p.Gly325Val)
c.773G>T (p.Gly258Val)
12g.49089935C=CA2034981916DHHc.1115G= (p.Gly372=)
c.974G= (p.Gly325=)
c.773G= (p.Gly258=)
12g.49089935C>GCA6549079DHHc.1115G>C (p.Gly372Ala)
c.974G>C (p.Gly325Ala)
c.773G>C (p.Gly258Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49089935C>TCA384714091DHHc.1115G>A (p.Gly372Asp)
c.974G>A (p.Gly325Asp)
c.773G>A (p.Gly258Asp)
 gnomAD v4
12g.49089936C>ACA384714096DHHc.1114G>T (p.Gly372Cys)
c.973G>T (p.Gly325Cys)
c.772G>T (p.Gly258Cys)
 gnomAD v3 gnomAD v4
12g.49089936C=CA2034981917DHHc.1114G= (p.Gly372=)
c.973G= (p.Gly325=)
c.772G= (p.Gly258=)
12g.49089936C>GCA384714100DHHc.1114G>C (p.Gly372Arg)
c.973G>C (p.Gly325Arg)
c.772G>C (p.Gly258Arg)
 gnomAD v4
12g.49089936C>TCA384714101DHHc.1114G>A (p.Gly372Ser)
c.973G>A (p.Gly325Ser)
c.772G>A (p.Gly258Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.49089937G>ACA479715780DHHc.1113C>T (p.Pro371=)
c.972C>T (p.Pro324=)
c.771C>T (p.Pro257=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49089937G>CCA479715782DHHc.1113C>G (p.Pro371=)
c.972C>G (p.Pro324=)
c.771C>G (p.Pro257=)
 gnomAD v4
12g.49089937G=CA2034981918DHHc.1113C= (p.Pro371=)
c.972C= (p.Pro324=)
c.771C= (p.Pro257=)
12g.49089937G>TCA479715781DHHc.1113C>A (p.Pro371=)
c.972C>A (p.Pro324=)
c.771C>A (p.Pro257=)
 dbSNP gnomAD v3 gnomAD v4
12g.49089938G>ACA384714104DHHc.1112C>T (p.Pro371Leu)
c.971C>T (p.Pro324Leu)
c.770C>T (p.Pro257Leu)
 gnomAD v4 COSMIC
12g.49089938G>CCA384714105DHHc.1112C>G (p.Pro371Arg)
c.971C>G (p.Pro324Arg)
c.770C>G (p.Pro257Arg)
12g.49089938G>TCA384714106DHHc.1112C>A (p.Pro371His)
c.971C>A (p.Pro324His)
c.770C>A (p.Pro257His)
 gnomAD v4
12g.49089939G>ACA384714133DHHc.1111C>T (p.Pro371Ser)
c.970C>T (p.Pro324Ser)
c.769C>T (p.Pro257Ser)
 gnomAD v4
12g.49089939G>CCA384714126DHHc.1111C>G (p.Pro371Ala)
c.970C>G (p.Pro324Ala)
c.769C>G (p.Pro257Ala)
12g.49089939G>TCA384714130DHHc.1111C>A (p.Pro371Thr)
c.970C>A (p.Pro324Thr)
c.769C>A (p.Pro257Thr)
12g.49089940G>ACA479715788DHHc.1110C>T (p.Leu370=)
c.969C>T (p.Leu323=)
c.768C>T (p.Leu256=)
 gnomAD v4 COSMIC
12g.49089940G>CCA479715789DHHc.1110C>G (p.Leu370=)
c.969C>G (p.Leu323=)
c.768C>G (p.Leu256=)
12g.49089940G>TCA479715790DHHc.1110C>A (p.Leu370=)
c.969C>A (p.Leu323=)
c.768C>A (p.Leu256=)
 gnomAD v4
12g.49089941A>CCA384714141DHHc.1109T>G (p.Leu370Arg)
c.968T>G (p.Leu323Arg)
c.767T>G (p.Leu256Arg)
12g.49089941A>GCA384714143DHHc.1109T>C (p.Leu370Pro)
c.968T>C (p.Leu323Pro)
c.767T>C (p.Leu256Pro)
12g.49089941A>TCA384714148DHHc.1109T>A (p.Leu370His)
c.968T>A (p.Leu323His)
c.767T>A (p.Leu256His)
12g.49089942G>ACA384714150DHHc.1108C>T (p.Leu370Phe)
c.967C>T (p.Leu323Phe)
c.766C>T (p.Leu256Phe)
 gnomAD v4
12g.49089942G>CCA384714170DHHc.1108C>G (p.Leu370Val)
c.967C>G (p.Leu323Val)
c.766C>G (p.Leu256Val)
12g.49089942G>TCA384714176DHHc.1108C>A (p.Leu370Ile)
c.967C>A (p.Leu323Ile)
c.766C>A (p.Leu256Ile)
 gnomAD v4
12g.49089943C>ACA479715793DHHc.1107G>T (p.Leu369=)
c.966G>T (p.Leu322=)
c.765G>T (p.Leu255=)
 gnomAD v4
12g.49089943C>GCA479715794DHHc.1107G>C (p.Leu369=)
c.966G>C (p.Leu322=)
c.765G>C (p.Leu255=)
12g.49089943C>TCA479715795DHHc.1107G>A (p.Leu369=)
c.966G>A (p.Leu322=)
c.765G>A (p.Leu255=)
12g.49089944A=CA2034981919DHHc.1106T= (p.Leu369=)
c.965T= (p.Leu322=)
c.764T= (p.Leu255=)
12g.49089944A>CCA6549080DHHc.1106T>G (p.Leu369Arg)
c.965T>G (p.Leu322Arg)
c.764T>G (p.Leu255Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49089944A>GCA384714181DHHc.1106T>C (p.Leu369Pro)
c.965T>C (p.Leu322Pro)
c.764T>C (p.Leu255Pro)
 dbSNP gnomAD v3 gnomAD v4
12g.49089944A>TCA384714183DHHc.1106T>A (p.Leu369Gln)
c.965T>A (p.Leu322Gln)
c.764T>A (p.Leu255Gln)
12g.49089945G>ACA479715797DHHc.1105C>T (p.Leu369=)
c.964C>T (p.Leu322=)
c.763C>T (p.Leu255=)
12g.49089945G>CCA384714184DHHc.1105C>G (p.Leu369Val)
c.964C>G (p.Leu322Val)
c.763C>G (p.Leu255Val)
12g.49089945G>TCA384714186DHHc.1105C>A (p.Leu369Met)
c.964C>A (p.Leu322Met)
c.763C>A (p.Leu255Met)
 gnomAD v4
12g.49089946C>ACA479715800DHHc.1104G>T (p.Ala368=)
c.963G>T (p.Ala321=)
c.762G>T (p.Ala254=)
 gnomAD v4
12g.49089946C=CA2034981920DHHc.1104G= (p.Ala368=)
c.963G= (p.Ala321=)
c.762G= (p.Ala254=)
12g.49089946C>GCA479715803DHHc.1104G>C (p.Ala368=)
c.963G>C (p.Ala321=)
c.762G>C (p.Ala254=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49089946C>TCA479715804DHHc.1104G>A (p.Ala368=)
c.963G>A (p.Ala321=)
c.762G>A (p.Ala254=)
 dbSNP gnomAD v2 gnomAD v4
12g.49089947G>ACA384714200DHHc.1103C>T (p.Ala368Val)
c.962C>T (p.Ala321Val)
c.761C>T (p.Ala254Val)
 dbSNP gnomAD v2 gnomAD v4
12g.49089947G>CCA384714193DHHc.1103C>G (p.Ala368Gly)
c.962C>G (p.Ala321Gly)
c.761C>G (p.Ala254Gly)
12g.49089947G=CA2034981921DHHc.1103C= (p.Ala368=)
c.962C= (p.Ala321=)
c.761C= (p.Ala254=)
12g.49089947G>TCA384714189DHHc.1103C>A (p.Ala368Glu)
c.962C>A (p.Ala321Glu)
c.761C>A (p.Ala254Glu)
 gnomAD v4 COSMIC
12g.49089948C>ACA384714202DHHc.1102G>T (p.Ala368Ser)
c.961G>T (p.Ala321Ser)
c.760G>T (p.Ala254Ser)
12g.49089948C=CA2034981922DHHc.1102G= (p.Ala368=)
c.961G= (p.Ala321=)
c.760G= (p.Ala254=)
12g.49089948C>GCA384714206DHHc.1102G>C (p.Ala368Pro)
c.961G>C (p.Ala321Pro)
c.760G>C (p.Ala254Pro)
12g.49089948C>TCA384714205DHHc.1102G>A (p.Ala368Thr)
c.961G>A (p.Ala321Thr)
c.760G>A (p.Ala254Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.49089951delCA2575145401DHHc.1102del (p.Ala368ArgfsTer23)
c.961del (p.Ala321ArgfsTer23)
c.760del (p.Ala254ArgfsTer23)
 gnomAD v4
12g.49089949C>ACA479715807DHHc.1101G>T (p.Gly367=)
c.960G>T (p.Gly320=)
c.759G>T (p.Gly253=)
12g.49089949C=CA2034981923DHHc.1101G= (p.Gly367=)
c.960G= (p.Gly320=)
c.759G= (p.Gly253=)
12g.49089949C>GCA479715809DHHc.1101G>C (p.Gly367=)
c.960G>C (p.Gly320=)
c.759G>C (p.Gly253=)
12g.49089949C>TCA479715811DHHc.1101G>A (p.Gly367=)
c.960G>A (p.Gly320=)
c.759G>A (p.Gly253=)
 dbSNP gnomAD v2 gnomAD v4
12g.49089950C>ACA384714209DHHc.1100G>T (p.Gly367Val)
c.959G>T (p.Gly320Val)
c.758G>T (p.Gly253Val)
 gnomAD v4
12g.49089950C>GCA384714212DHHc.1100G>C (p.Gly367Ala)
c.959G>C (p.Gly320Ala)
c.758G>C (p.Gly253Ala)
12g.49089950C>TCA384714214DHHc.1100G>A (p.Gly367Glu)
c.959G>A (p.Gly320Glu)
c.758G>A (p.Gly253Glu)
 gnomAD v4
12g.49089951C>ACA384714229DHHc.1099G>T (p.Gly367Trp)
c.958G>T (p.Gly320Trp)
c.757G>T (p.Gly253Trp)
 gnomAD v4
12g.49089951C>GCA384714232DHHc.1099G>C (p.Gly367Arg)
c.958G>C (p.Gly320Arg)
c.757G>C (p.Gly253Arg)
12g.49089951C>TCA384714234DHHc.1099G>A (p.Gly367Arg)
c.958G>A (p.Gly320Arg)
c.757G>A (p.Gly253Arg)
12g.49089952T>ACA479715817DHHc.1098A>T (p.Leu366=)
c.957A>T (p.Leu319=)
c.756A>T (p.Leu252=)
12g.49089952T>CCA479715819DHHc.1098A>G (p.Leu366=)
c.957A>G (p.Leu319=)
c.756A>G (p.Leu252=)
 dbSNP
12g.49089952T>GCA479715822DHHc.1098A>C (p.Leu366=)
c.957A>C (p.Leu319=)
c.756A>C (p.Leu252=)
12g.49089952T=CA2034981924DHHc.1098A= (p.Leu366=)
c.957A= (p.Leu319=)
c.756A= (p.Leu252=)
12g.49089953A>CCA384714245DHHc.1097T>G (p.Leu366Arg)
c.956T>G (p.Leu319Arg)
c.755T>G (p.Leu252Arg)
12g.49089953A>GCA384714238DHHc.1097T>C (p.Leu366Pro)
c.956T>C (p.Leu319Pro)
c.755T>C (p.Leu252Pro)
12g.49089953A>TCA384714242DHHc.1097T>A (p.Leu366Gln)
c.956T>A (p.Leu319Gln)
c.755T>A (p.Leu252Gln)
12g.49089954G>ACA479715828DHHc.1096C>T (p.Leu366=)
c.955C>T (p.Leu319=)
c.754C>T (p.Leu252=)
12g.49089954G>CCA384714248DHHc.1096C>G (p.Leu366Val)
c.955C>G (p.Leu319Val)
c.754C>G (p.Leu252Val)
12g.49089954G>TCA384714250DHHc.1096C>A (p.Leu366Ile)
c.955C>A (p.Leu319Ile)
c.754C>A (p.Leu252Ile)
12g.49089955C>ACA479715830DHHc.1095G>T (p.Ala365=)
c.954G>T (p.Ala318=)
c.753G>T (p.Ala251=)
 dbSNP gnomAD v3 gnomAD v4
12g.49089955C=CA2034981925DHHc.1095G= (p.Ala365=)
c.954G= (p.Ala318=)
c.753G= (p.Ala251=)
12g.49089955C>GCA479715831DHHc.1095G>C (p.Ala365=)
c.954G>C (p.Ala318=)
c.753G>C (p.Ala251=)
12g.49089955C>TCA479715833DHHc.1095G>A (p.Ala365=)
c.954G>A (p.Ala318=)
c.753G>A (p.Ala251=)
 dbSNP gnomAD v3 gnomAD v4
12g.49089956G>ACA384714255DHHc.1094C>T (p.Ala365Val)
c.953C>T (p.Ala318Val)
c.752C>T (p.Ala251Val)
 gnomAD v4
12g.49089956G>CCA384714257DHHc.1094C>G (p.Ala365Gly)
c.953C>G (p.Ala318Gly)
c.752C>G (p.Ala251Gly)
12g.49089956G=CA2034981926DHHc.1094C= (p.Ala365=)
c.953C= (p.Ala318=)
c.752C= (p.Ala251=)
12g.49089956G>TCA236651394DHHc.1094C>A (p.Ala365Glu)
c.953C>A (p.Ala318Glu)
c.752C>A (p.Ala251Glu)
 dbSNP gnomAD v4
12g.49089957C>ACA384714265DHHc.1093G>T (p.Ala365Ser)
c.952G>T (p.Ala318Ser)
c.751G>T (p.Ala251Ser)
12g.49089957C=CA2034981927DHHc.1093G= (p.Ala365=)
c.952G= (p.Ala318=)
c.751G= (p.Ala251=)
12g.49089957C>GCA6549081DHHc.1093G>C (p.Ala365Pro)
c.952G>C (p.Ala318Pro)
c.751G>C (p.Ala251Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49089957C>TCA236651415DHHc.1093G>A (p.Ala365Thr)
c.952G>A (p.Ala318Thr)
c.751G>A (p.Ala251Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.49089958G>ACA479715839DHHc.1092C>T (p.His364=)
c.951C>T (p.His317=)
c.750C>T (p.His250=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.49089958G>CCA384714281DHHc.1092C>G (p.His364Gln)
c.951C>G (p.His317Gln)
c.750C>G (p.His250Gln)
 dbSNP gnomAD v2 gnomAD v4
12g.49089958G=CA2034981928DHHc.1092C= (p.His364=)
c.951C= (p.His317=)
c.750C= (p.His250=)
12g.49089958G>TCA384714283DHHc.1092C>A (p.His364Gln)
c.951C>A (p.His317Gln)
c.750C>A (p.His250Gln)
 gnomAD v4
12g.49089959T>ACA384714289DHHc.1091A>T (p.His364Leu)
c.950A>T (p.His317Leu)
c.749A>T (p.His250Leu)
12g.49089959T>CCA384714291DHHc.1091A>G (p.His364Arg)
c.950A>G (p.His317Arg)
c.749A>G (p.His250Arg)
 gnomAD v4
12g.49089959T>GCA384714304DHHc.1091A>C (p.His364Pro)
c.950A>C (p.His317Pro)
c.749A>C (p.His250Pro)
 gnomAD v4
12g.49089960G>ACA384714311DHHc.1090C>T (p.His364Tyr)
c.949C>T (p.His317Tyr)
c.748C>T (p.His250Tyr)
 gnomAD v4 COSMIC
12g.49089960G>CCA384714313DHHc.1090C>G (p.His364Asp)
c.949C>G (p.His317Asp)
c.748C>G (p.His250Asp)
12g.49089960G>TCA384714314DHHc.1090C>A (p.His364Asn)
c.949C>A (p.His317Asn)
c.748C>A (p.His250Asn)
12g.49089961C>ACA479715847DHHc.1089G>T (p.Leu363=)
c.948G>T (p.Leu316=)
c.747G>T (p.Leu249=)
 gnomAD v4
12g.49089961C>GCA479715842DHHc.1089G>C (p.Leu363=)
c.948G>C (p.Leu316=)
c.747G>C (p.Leu249=)
12g.49089961C>TCA479715844DHHc.1089G>A (p.Leu363=)
c.948G>A (p.Leu316=)
c.747G>A (p.Leu249=)
 gnomAD v4
12g.49089962A>CCA384714325DHHc.1088T>G (p.Leu363Arg)
c.947T>G (p.Leu316Arg)
c.746T>G (p.Leu249Arg)
12g.49089962A>GCA384714326DHHc.1088T>C (p.Leu363Pro)
c.947T>C (p.Leu316Pro)
c.746T>C (p.Leu249Pro)
12g.49089962A>TCA384714331DHHc.1088T>A (p.Leu363Gln)
c.947T>A (p.Leu316Gln)
c.746T>A (p.Leu249Gln)
12g.49089963G>ACA479715848DHHc.1087C>T (p.Leu363=)
c.946C>T (p.Leu316=)
c.745C>T (p.Leu249=)
 gnomAD v4
12g.49089963G>CCA384714336DHHc.1087C>G (p.Leu363Val)
c.946C>G (p.Leu316Val)
c.745C>G (p.Leu249Val)
12g.49089963G>TCA384714335DHHc.1087C>A (p.Leu363Met)
c.946C>A (p.Leu316Met)
c.745C>A (p.Leu249Met)
 gnomAD v4
12g.49089963_49089964delinsGCCA2034981929DHHc.1086_1087delinsGC (p.Leu362=)
c.945_946delinsGC (p.Leu315=)
c.744_745delinsGC (p.Leu248=)
12g.49089964delCA913187305DHHc.1086del (p.Leu363CysfsTer4)
c.945del (p.Leu316CysfsTer4)
c.744del (p.Leu249CysfsTer4)
 ClinVar dbSNP gnomAD v4
12g.49089964C>ACA479715851DHHc.1086G>T (p.Leu362=)
c.945G>T (p.Leu315=)
c.744G>T (p.Leu248=)
 gnomAD v4
12g.49089964C>GCA479715855DHHc.1086G>C (p.Leu362=)
c.945G>C (p.Leu315=)
c.744G>C (p.Leu248=)
12g.49089964C>TCA479715854DHHc.1086G>A (p.Leu362=)
c.945G>A (p.Leu315=)
c.744G>A (p.Leu248=)
12g.49089965A=CA2034981930DHHc.1085T= (p.Leu362=)
c.944T= (p.Leu315=)
c.743T= (p.Leu248=)
12g.49089965A>CCA384714340DHHc.1085T>G (p.Leu362Arg)
c.944T>G (p.Leu315Arg)
c.743T>G (p.Leu248Arg)
12g.49089965A>GCA384714342DHHc.1085T>C (p.Leu362Pro)
c.944T>C (p.Leu315Pro)
c.743T>C (p.Leu248Pro)
 gnomAD v4
12g.49089965A>TCA236651423DHHc.1085T>A (p.Leu362Gln)
c.944T>A (p.Leu315Gln)
c.743T>A (p.Leu248Gln)
 dbSNP gnomAD v2 gnomAD v4
12g.49089966G>ACA479715857DHHc.1084C>T (p.Leu362=)
c.943C>T (p.Leu315=)
c.742C>T (p.Leu248=)
12g.49089966G>CCA384714345DHHc.1084C>G (p.Leu362Val)
c.943C>G (p.Leu315Val)
c.742C>G (p.Leu248Val)
12g.49089966G>TCA384714349DHHc.1084C>A (p.Leu362Met)
c.943C>A (p.Leu315Met)
c.742C>A (p.Leu248Met)
12g.49089967T>ACA384714351DHHc.1083A>T (p.Arg361Ser)
c.942A>T (p.Arg314Ser)
c.741A>T (p.Arg247Ser)
12g.49089967T>CCA236651431DHHc.1083A>G (p.Arg361=)
c.942A>G (p.Arg314=)
c.741A>G (p.Arg247=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49089967T>GCA384714354DHHc.1083A>C (p.Arg361Ser)
c.942A>C (p.Arg314Ser)
c.741A>C (p.Arg247Ser)
12g.49089967T=CA2034981931DHHc.1083A= (p.Arg361=)
c.942A= (p.Arg314=)
c.741A= (p.Arg247=)
12g.49089968C>ACA384714358DHHc.1082G>T (p.Arg361Ile)
c.941G>T (p.Arg314Ile)
c.740G>T (p.Arg247Ile)
 gnomAD v4
12g.49089968C>GCA384714365DHHc.1082G>C (p.Arg361Thr)
c.941G>C (p.Arg314Thr)
c.740G>C (p.Arg247Thr)
12g.49089968C>TCA384714360DHHc.1082G>A (p.Arg361Lys)
c.941G>A (p.Arg314Lys)
c.740G>A (p.Arg247Lys)
 gnomAD v4
12g.49089969T>ACA384714369DHHc.1081A>T (p.Arg361Ter)
c.940A>T (p.Arg314Ter)
c.739A>T (p.Arg247Ter)
12g.49089969T>CCA384714372DHHc.1081A>G (p.Arg361Gly)
c.940A>G (p.Arg314Gly)
c.739A>G (p.Arg247Gly)
12g.49089969T>GCA479715866DHHc.1081A>C (p.Arg361=)
c.940A>C (p.Arg314=)
c.739A>C (p.Arg247=)
12g.49089970C>ACA384714376DHHc.1080G>T (p.Leu360Phe)
c.939G>T (p.Leu313Phe)
c.738G>T (p.Leu246Phe)
 gnomAD v4
12g.49089970C>GCA384714379DHHc.1080G>C (p.Leu360Phe)
c.939G>C (p.Leu313Phe)
c.738G>C (p.Leu246Phe)
 COSMIC
12g.49089970C>TCA479715870DHHc.1080G>A (p.Leu360=)
c.939G>A (p.Leu313=)
c.738G>A (p.Leu246=)
12g.49089971A>CCA384714400DHHc.1079T>G (p.Leu360Trp)
c.938T>G (p.Leu313Trp)
c.737T>G (p.Leu246Trp)
12g.49089971A>GCA384714384DHHc.1079T>C (p.Leu360Ser)
c.938T>C (p.Leu313Ser)
c.737T>C (p.Leu246Ser)
12g.49089971A>TCA384714395DHHc.1079T>A (p.Leu360Ter)
c.938T>A (p.Leu313Ter)
c.737T>A (p.Leu246Ter)
12g.49089972dupCA2618613901DHHc.1079dup (p.Leu360PhefsTer?)
c.938dup (p.Leu313PhefsTer?)
c.737dup (p.Leu246PhefsTer?)
 gnomAD v4
12g.49089971_49089973delCA2618613902DHHc.1077_1079del (p.Leu360del)
c.936_938del (p.Leu313del)
c.735_737del (p.Leu246del)
 gnomAD v4
12g.49089972A=CA2034981932DHHc.1078T= (p.Leu360=)
c.937T= (p.Leu313=)
c.736T= (p.Leu246=)
12g.49089972A>CCA384714406DHHc.1078T>G (p.Leu360Val)
c.937T>G (p.Leu313Val)
c.736T>G (p.Leu246Val)
12g.49089972A>GCA6549082DHHc.1078T>C (p.Leu360=)
c.937T>C (p.Leu313=)
c.736T>C (p.Leu246=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49089972A>TCA384714412DHHc.1078T>A (p.Leu360Met)
c.937T>A (p.Leu313Met)
c.736T>A (p.Leu246Met)
12g.49089973G>ACA6549083DHHc.1077C>T (p.Pro359=)
c.936C>T (p.Pro312=)
c.735C>T (p.Pro245=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49089973G>CCA479715876DHHc.1077C>G (p.Pro359=)
c.936C>G (p.Pro312=)
c.735C>G (p.Pro245=)
 gnomAD v4
12g.49089973G=CA2034981933DHHc.1077C= (p.Pro359=)
c.936C= (p.Pro312=)
c.735C= (p.Pro245=)
12g.49089973G>TCA479715877DHHc.1077C>A (p.Pro359=)
c.936C>A (p.Pro312=)
c.735C>A (p.Pro245=)
 dbSNP gnomAD v4
12g.49089977dupCA2618613906DHHc.1077dup (p.Arg361GlufsTer?)
c.936dup (p.Arg314GlufsTer?)
c.735dup (p.Arg247GlufsTer?)
 gnomAD v4
12g.49089977delCA2618613908DHHc.1077del (p.Leu360Ter)
c.936del (p.Leu313Ter)
c.735del (p.Leu246Ter)
 gnomAD v4
12g.49089974G>ACA384714415DHHc.1076C>T (p.Pro359Leu)
c.935C>T (p.Pro312Leu)
c.734C>T (p.Pro245Leu)
 gnomAD v4
12g.49089974G>CCA384714419DHHc.1076C>G (p.Pro359Arg)
c.935C>G (p.Pro312Arg)
c.734C>G (p.Pro245Arg)
12g.49089974G>TCA384714421DHHc.1076C>A (p.Pro359His)
c.935C>A (p.Pro312His)
c.734C>A (p.Pro245His)
 gnomAD v4
12g.49089974_49089975delinsAACA236651451DHHc.1075_1076delinsTT (p.Pro359Phe)
c.934_935delinsTT (p.Pro312Phe)
c.733_734delinsTT (p.Pro245Phe)
 dbSNP
12g.49089974_49089975delinsGGCA2034981934DHHc.1075_1076delinsCC (p.Pro359=)
c.934_935delinsCC (p.Pro312=)
c.733_734delinsCC (p.Pro245=)
12g.49089975G>ACA384714423DHHc.1075C>T (p.Pro359Ser)
c.934C>T (p.Pro312Ser)
c.733C>T (p.Pro245Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.49089975G>CCA384714424DHHc.1075C>G (p.Pro359Ala)
c.934C>G (p.Pro312Ala)
c.733C>G (p.Pro245Ala)
12g.49089975G=CA2034981935DHHc.1075C= (p.Pro359=)
c.934C= (p.Pro312=)
c.733C= (p.Pro245=)
12g.49089975G>TCA384714427DHHc.1075C>A (p.Pro359Thr)
c.934C>A (p.Pro312Thr)
c.733C>A (p.Pro245Thr)
12g.49089976G>ACA479715881DHHc.1074C>T (p.Ala358=)
c.933C>T (p.Ala311=)
c.732C>T (p.Ala244=)
 dbSNP gnomAD v4
12g.49089976G>CCA479715883DHHc.1074C>G (p.Ala358=)
c.933C>G (p.Ala311=)
c.732C>G (p.Ala244=)
12g.49089976G>TCA479715885DHHc.1074C>A (p.Ala358=)
c.933C>A (p.Ala311=)
c.732C>A (p.Ala244=)
 gnomAD v4
12g.49089977G>ACA236651477DHHc.1073C>T (p.Ala358Val)
c.932C>T (p.Ala311Val)
c.731C>T (p.Ala244Val)
 dbSNP gnomAD v4
12g.49089977G>CCA384714445DHHc.1073C>G (p.Ala358Gly)
c.932C>G (p.Ala311Gly)
c.731C>G (p.Ala244Gly)
 gnomAD v4
12g.49089977G=CA2034981936DHHc.1073C= (p.Ala358=)
c.932C= (p.Ala311=)
c.731C= (p.Ala244=)
12g.49089977G>TCA384714446DHHc.1073C>A (p.Ala358Asp)
c.932C>A (p.Ala311Asp)
c.731C>A (p.Ala244Asp)
 gnomAD v4
12g.49089978C>ACA384714450DHHc.1072G>T (p.Ala358Ser)
c.931G>T (p.Ala311Ser)
c.730G>T (p.Ala244Ser)
 gnomAD v4
12g.49089978C>GCA384714448DHHc.1072G>C (p.Ala358Pro)
c.931G>C (p.Ala311Pro)
c.730G>C (p.Ala244Pro)
12g.49089978C>TCA384714449DHHc.1072G>A (p.Ala358Thr)
c.931G>A (p.Ala311Thr)
c.730G>A (p.Ala244Thr)
 gnomAD v4
12g.49089979A>CCA384714451DHHc.1071T>G (p.Phe357Leu)
c.930T>G (p.Phe310Leu)
c.729T>G (p.Phe243Leu)
12g.49089979A>GCA479715891DHHc.1071T>C (p.Phe357=)
c.930T>C (p.Phe310=)
c.729T>C (p.Phe243=)
 gnomAD v4
12g.49089979A>TCA384714452DHHc.1071T>A (p.Phe357Leu)
c.930T>A (p.Phe310Leu)
c.729T>A (p.Phe243Leu)
12g.49089982delCA2618613928DHHc.1071del (p.Phe357LeufsTer4)
c.930del (p.Phe310LeufsTer4)
c.729del (p.Phe243LeufsTer4)
 gnomAD v4
12g.49089980A>CCA384714455DHHc.1070T>G (p.Phe357Cys)
c.929T>G (p.Phe310Cys)
c.728T>G (p.Phe243Cys)
12g.49089980A>GCA384714457DHHc.1070T>C (p.Phe357Ser)
c.929T>C (p.Phe310Ser)
c.728T>C (p.Phe243Ser)
12g.49089980A>TCA384714459DHHc.1070T>A (p.Phe357Tyr)
c.929T>A (p.Phe310Tyr)
c.728T>A (p.Phe243Tyr)
12g.49089981A>CCA384714465DHHc.1069T>G (p.Phe357Val)
c.928T>G (p.Phe310Val)
c.727T>G (p.Phe243Val)
12g.49089981A>GCA384714475DHHc.1069T>C (p.Phe357Leu)
c.928T>C (p.Phe310Leu)
c.727T>C (p.Phe243Leu)
 gnomAD v4
12g.49089981A>TCA384714476DHHc.1069T>A (p.Phe357Ile)
c.928T>A (p.Phe310Ile)
c.727T>A (p.Phe243Ile)
12g.49089982A>CCA479715901DHHc.1068T>G (p.Ala356=)
c.927T>G (p.Ala309=)
c.726T>G (p.Ala242=)
12g.49089982A>GCA479715903DHHc.1068T>C (p.Ala356=)
c.927T>C (p.Ala309=)
c.726T>C (p.Ala242=)
 gnomAD v4
12g.49089982A>TCA479715902DHHc.1068T>A (p.Ala356=)
c.927T>A (p.Ala309=)
c.726T>A (p.Ala242=)
12g.49089983G>ACA384714477DHHc.1067C>T (p.Ala356Val)
c.926C>T (p.Ala309Val)
c.725C>T (p.Ala242Val)
 dbSNP gnomAD v3 gnomAD v4
12g.49089983G>CCA384714478DHHc.1067C>G (p.Ala356Gly)
c.926C>G (p.Ala309Gly)
c.725C>G (p.Ala242Gly)
12g.49089983G=CA2034981937DHHc.1067C= (p.Ala356=)
c.926C= (p.Ala309=)
c.725C= (p.Ala242=)
12g.49089983G>TCA384714479DHHc.1067C>A (p.Ala356Asp)
c.926C>A (p.Ala309Asp)
c.725C>A (p.Ala242Asp)
 gnomAD v4
12g.49089984C>ACA236651498DHHc.1066G>T (p.Ala356Ser)
c.925G>T (p.Ala309Ser)
c.724G>T (p.Ala242Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49089984C=CA2034981938DHHc.1066G= (p.Ala356=)
c.925G= (p.Ala309=)
c.724G= (p.Ala242=)
12g.49089984C>GCA384714484DHHc.1066G>C (p.Ala356Pro)
c.925G>C (p.Ala309Pro)
c.724G>C (p.Ala242Pro)
12g.49089984C>TCA384714488DHHc.1066G>A (p.Ala356Thr)
c.925G>A (p.Ala309Thr)
c.724G>A (p.Ala242Thr)
 gnomAD v4
12g.49089985G>ACA479715912DHHc.1065C>T (p.Arg355=)
c.924C>T (p.Arg308=)
c.723C>T (p.Arg241=)
 dbSNP gnomAD v4
12g.49089985G>CCA479715913DHHc.1065C>G (p.Arg355=)
c.924C>G (p.Arg308=)
c.723C>G (p.Arg241=)
12g.49089985G=CA2034981939DHHc.1065C= (p.Arg355=)
c.924C= (p.Arg308=)
c.723C= (p.Arg241=)
12g.49089985G>TCA479715914DHHc.1065C>A (p.Arg355=)
c.924C>A (p.Arg308=)
c.723C>A (p.Arg241=)
 gnomAD v4
12g.49089986C>ACA384714499DHHc.1064G>T (p.Arg355Leu)
c.923G>T (p.Arg308Leu)
c.722G>T (p.Arg241Leu)
 gnomAD v4
12g.49089986C=CA2034981940DHHc.1064G= (p.Arg355=)
c.923G= (p.Arg308=)
c.722G= (p.Arg241=)
12g.49089986C>GCA384714495DHHc.1064G>C (p.Arg355Pro)
c.923G>C (p.Arg308Pro)
c.722G>C (p.Arg241Pro)
12g.49089986C>TCA384714492DHHc.1064G>A (p.Arg355His)
c.923G>A (p.Arg308His)
c.722G>A (p.Arg241His)
 dbSNP gnomAD v2 gnomAD v4
12g.49089987G>ACA384714500DHHc.1063C>T (p.Arg355Cys)
c.922C>T (p.Arg308Cys)
c.721C>T (p.Arg241Cys)
 dbSNP gnomAD v3 gnomAD v4
12g.49089987G>CCA384714502DHHc.1063C>G (p.Arg355Gly)
c.922C>G (p.Arg308Gly)
c.721C>G (p.Arg241Gly)
 dbSNP gnomAD v4
12g.49089987G=CA2034981941DHHc.1063C= (p.Arg355=)
c.922C= (p.Arg308=)
c.721C= (p.Arg241=)
12g.49089987G>TCA384714504DHHc.1063C>A (p.Arg355Ser)
c.922C>A (p.Arg308Ser)
c.721C>A (p.Arg241Ser)
 dbSNP gnomAD v4
12g.49089988G>ACA479715920DHHc.1062C>T (p.His354=)
c.921C>T (p.His307=)
c.720C>T (p.His240=)
 dbSNP gnomAD v3 gnomAD v4
12g.49089988G>CCA384714505DHHc.1062C>G (p.His354Gln)
c.921C>G (p.His307Gln)
c.720C>G (p.His240Gln)
12g.49089988G=CA2034981942DHHc.1062C= (p.His354=)
c.921C= (p.His307=)
c.720C= (p.His240=)
12g.49089988G>TCA384714506DHHc.1062C>A (p.His354Gln)
c.921C>A (p.His307Gln)
c.720C>A (p.His240Gln)
 gnomAD v4
12g.49089989T>ACA384714507DHHc.1061A>T (p.His354Leu)
c.920A>T (p.His307Leu)
c.719A>T (p.His240Leu)
12g.49089989T>CCA384714509DHHc.1061A>G (p.His354Arg)
c.920A>G (p.His307Arg)
c.719A>G (p.His240Arg)
 dbSNP gnomAD v4
12g.49089989T>GCA384714521DHHc.1061A>C (p.His354Pro)
c.920A>C (p.His307Pro)
c.719A>C (p.His240Pro)
12g.49089989T=CA2034981943DHHc.1061A= (p.His354=)
c.920A= (p.His307=)
c.719A= (p.His240=)
12g.49089990G>ACA384714525DHHc.1060C>T (p.His354Tyr)
c.919C>T (p.His307Tyr)
c.718C>T (p.His240Tyr)
12g.49089990G>CCA384714528DHHc.1060C>G (p.His354Asp)
c.919C>G (p.His307Asp)
c.718C>G (p.His240Asp)
12g.49089990G>TCA384714532DHHc.1060C>A (p.His354Asn)
c.919C>A (p.His307Asn)
c.718C>A (p.His240Asn)
12g.49089991C>ACA479715932DHHc.1059G>T (p.Ala353=)
c.918G>T (p.Ala306=)
c.717G>T (p.Ala239=)
 gnomAD v4
12g.49089991C=CA2034981944DHHc.1059G= (p.Ala353=)
c.918G= (p.Ala306=)
c.717G= (p.Ala239=)
12g.49089991C>GCA479715934DHHc.1059G>C (p.Ala353=)
c.918G>C (p.Ala306=)
c.717G>C (p.Ala239=)
 dbSNP
12g.49089991C>TCA479715936DHHc.1059G>A (p.Ala353=)
c.918G>A (p.Ala306=)
c.717G>A (p.Ala239=)
 dbSNP gnomAD v3 gnomAD v4
12g.49089992G>ACA384714537DHHc.1058C>T (p.Ala353Val)
c.917C>T (p.Ala306Val)
c.716C>T (p.Ala239Val)
 gnomAD v4
12g.49089992G>CCA384714541DHHc.1058C>G (p.Ala353Gly)
c.917C>G (p.Ala306Gly)
c.716C>G (p.Ala239Gly)
12g.49089992G>TCA384714543DHHc.1058C>A (p.Ala353Glu)
c.917C>A (p.Ala306Glu)
c.716C>A (p.Ala239Glu)
 gnomAD v4
12g.49089993C>ACA384714551DHHc.1057G>T (p.Ala353Ser)
c.916G>T (p.Ala306Ser)
c.715G>T (p.Ala239Ser)
 gnomAD v4
12g.49089993C>GCA384714553DHHc.1057G>C (p.Ala353Pro)
c.916G>C (p.Ala306Pro)
c.715G>C (p.Ala239Pro)
 gnomAD v4
12g.49089993C>TCA384714548DHHc.1057G>A (p.Ala353Thr)
c.916G>A (p.Ala306Thr)
c.715G>A (p.Ala239Thr)
 gnomAD v4
12g.49089994C>ACA384714555DHHc.1056G>T (p.Trp352Cys)
c.915G>T (p.Trp305Cys)
c.714G>T (p.Trp238Cys)
 gnomAD v4
12g.49089994C>GCA384714557DHHc.1056G>C (p.Trp352Cys)
c.915G>C (p.Trp305Cys)
c.714G>C (p.Trp238Cys)
12g.49089994C>TCA384714561DHHc.1056G>A (p.Trp352Ter)
c.915G>A (p.Trp305Ter)
c.714G>A (p.Trp238Ter)
 gnomAD v4
12g.49089995C>ACA384714565DHHc.1055G>T (p.Trp352Leu)
c.914G>T (p.Trp305Leu)
c.713G>T (p.Trp238Leu)
 gnomAD v4
12g.49089995C>GCA384714569DHHc.1055G>C (p.Trp352Ser)
c.914G>C (p.Trp305Ser)
c.713G>C (p.Trp238Ser)
 gnomAD v4
12g.49089995C>TCA384714574DHHc.1055G>A (p.Trp352Ter)
c.914G>A (p.Trp305Ter)
c.713G>A (p.Trp238Ter)
 gnomAD v4
12g.49089996A=CA2034981945DHHc.1054T= (p.Trp352=)
c.913T= (p.Trp305=)
c.712T= (p.Trp238=)
12g.49089996A>CCA384714584DHHc.1054T>G (p.Trp352Gly)
c.913T>G (p.Trp305Gly)
c.712T>G (p.Trp238Gly)
12g.49089996A>GCA384714577DHHc.1054T>C (p.Trp352Arg)
c.913T>C (p.Trp305Arg)
c.712T>C (p.Trp238Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49089996A>TCA384714581DHHc.1054T>A (p.Trp352Arg)
c.913T>A (p.Trp305Arg)
c.712T>A (p.Trp238Arg)
12g.49089997C>ACA384714588DHHc.1053G>T (p.Gln351His)
c.912G>T (p.Gln304His)
c.711G>T (p.Gln237His)
 gnomAD v4
12g.49089997C>GCA384714589DHHc.1053G>C (p.Gln351His)
c.912G>C (p.Gln304His)
c.711G>C (p.Gln237His)
12g.49089997C>TCA479715948DHHc.1053G>A (p.Gln351=)
c.912G>A (p.Gln304=)
c.711G>A (p.Gln237=)
 gnomAD v4
12g.49089998T>ACA384714590DHHc.1052A>T (p.Gln351Leu)
c.911A>T (p.Gln304Leu)
c.710A>T (p.Gln237Leu)
12g.49089998T>CCA384714591DHHc.1052A>G (p.Gln351Arg)
c.911A>G (p.Gln304Arg)
c.710A>G (p.Gln237Arg)
 gnomAD v4
12g.49089998T>GCA384714592DHHc.1052A>C (p.Gln351Pro)
c.911A>C (p.Gln304Pro)
c.710A>C (p.Gln237Pro)
12g.49089999G>ACA384714594DHHc.1051C>T (p.Gln351Ter)
c.910C>T (p.Gln304Ter)
c.709C>T (p.Gln237Ter)
 gnomAD v4
12g.49089999G>CCA384714599DHHc.1051C>G (p.Gln351Glu)
c.910C>G (p.Gln304Glu)
c.709C>G (p.Gln237Glu)
12g.49089999G>TCA384714597DHHc.1051C>A (p.Gln351Lys)
c.910C>A (p.Gln304Lys)
c.709C>A (p.Gln237Lys)
 gnomAD v4
12g.49090000delCA2618613967DHHc.1051del (p.Gln351SerfsTer10)
c.910del (p.Gln304SerfsTer10)
c.709del (p.Gln237SerfsTer10)
 gnomAD v4
12g.49090000G>ACA479715954DHHc.1050C>T (p.His350=)
c.909C>T (p.His303=)
c.708C>T (p.His236=)
12g.49090000G>CCA384714605DHHc.1050C>G (p.His350Gln)
c.909C>G (p.His303Gln)
c.708C>G (p.His236Gln)
12g.49090000G>TCA384714608DHHc.1050C>A (p.His350Gln)
c.909C>A (p.His303Gln)
c.708C>A (p.His236Gln)
12g.49090001T>ACA384714613DHHc.1049A>T (p.His350Leu)
c.908A>T (p.His303Leu)
c.707A>T (p.His236Leu)
12g.49090001T>CCA384714616DHHc.1049A>G (p.His350Arg)
c.908A>G (p.His303Arg)
c.707A>G (p.His236Arg)
 gnomAD v4
12g.49090001T>GCA384714617DHHc.1049A>C (p.His350Pro)
c.908A>C (p.His303Pro)
c.707A>C (p.His236Pro)
12g.49090002G>ACA384714618DHHc.1048C>T (p.His350Tyr)
c.907C>T (p.His303Tyr)
c.706C>T (p.His236Tyr)
 gnomAD v4
12g.49090002G>CCA384714646DHHc.1048C>G (p.His350Asp)
c.907C>G (p.His303Asp)
c.706C>G (p.His236Asp)
12g.49090002G>TCA384714648DHHc.1048C>A (p.His350Asn)
c.907C>A (p.His303Asn)
c.706C>A (p.His236Asn)
 gnomAD v4
12g.49090003A=CA2034981946DHHc.1047T= (p.Ser349=)
c.906T= (p.Ser302=)
c.705T= (p.Ser235=)
12g.49090003A>CCA384714651DHHc.1047T>G (p.Ser349Arg)
c.906T>G (p.Ser302Arg)
c.705T>G (p.Ser235Arg)
12g.49090003A>GCA479715966DHHc.1047T>C (p.Ser349=)
c.906T>C (p.Ser302=)
c.705T>C (p.Ser235=)
 dbSNP gnomAD v2 gnomAD v4
12g.49090003A>TCA384714652DHHc.1047T>A (p.Ser349Arg)
c.906T>A (p.Ser302Arg)
c.705T>A (p.Ser235Arg)
 gnomAD v4
12g.49090004C>ACA384714660DHHc.1046G>T (p.Ser349Ile)
c.905G>T (p.Ser302Ile)
c.704G>T (p.Ser235Ile)
 gnomAD v4
12g.49090004C>GCA384714665DHHc.1046G>C (p.Ser349Thr)
c.905G>C (p.Ser302Thr)
c.704G>C (p.Ser235Thr)
12g.49090004C>TCA384714663DHHc.1046G>A (p.Ser349Asn)
c.905G>A (p.Ser302Asn)
c.704G>A (p.Ser235Asn)
12g.49090005T>ACA384714671DHHc.1045A>T (p.Ser349Cys)
c.904A>T (p.Ser302Cys)
c.703A>T (p.Ser235Cys)
 gnomAD v4
12g.49090005T>CCA384714675DHHc.1045A>G (p.Ser349Gly)
c.904A>G (p.Ser302Gly)
c.703A>G (p.Ser235Gly)
 gnomAD v4
12g.49090005T>GCA384714674DHHc.1045A>C (p.Ser349Arg)
c.904A>C (p.Ser302Arg)
c.703A>C (p.Ser235Arg)
12g.49090006C>ACA236651505DHHc.1044G>T (p.Glu348Asp)
c.903G>T (p.Glu301Asp)
c.702G>T (p.Glu234Asp)
 dbSNP gnomAD v4
12g.49090006C=CA2034981947DHHc.1044G= (p.Glu348=)
c.903G= (p.Glu301=)
c.702G= (p.Glu234=)
12g.49090006C>GCA384714676DHHc.1044G>C (p.Glu348Asp)
c.903G>C (p.Glu301Asp)
c.702G>C (p.Glu234Asp)
12g.49090006C>TCA6549084DHHc.1044G>A (p.Glu348=)
c.903G>A (p.Glu301=)
c.702G>A (p.Glu234=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49090007T>ACA384714679DHHc.1043A>T (p.Glu348Val)
c.902A>T (p.Glu301Val)
c.701A>T (p.Glu234Val)
 dbSNP
12g.49090007T>CCA384714680DHHc.1043A>G (p.Glu348Gly)
c.902A>G (p.Glu301Gly)
c.701A>G (p.Glu234Gly)
 gnomAD v4
12g.49090007T>GCA384714684DHHc.1043A>C (p.Glu348Ala)
c.902A>C (p.Glu301Ala)
c.701A>C (p.Glu234Ala)
12g.49090007T=CA2034981948DHHc.1043A= (p.Glu348=)
c.902A= (p.Glu301=)
c.701A= (p.Glu234=)
12g.49090008C>ACA384714694DHHc.1042G>T (p.Glu348Ter)
c.901G>T (p.Glu301Ter)
c.700G>T (p.Glu234Ter)
 gnomAD v4
12g.49090008C>GCA384714686DHHc.1042G>C (p.Glu348Gln)
c.901G>C (p.Glu301Gln)
c.700G>C (p.Glu234Gln)
12g.49090008C>TCA384714690DHHc.1042G>A (p.Glu348Lys)
c.901G>A (p.Glu301Lys)
c.700G>A (p.Glu234Lys)
12g.49090009C>ACA479715981DHHc.1041G>T (p.Leu347=)
c.900G>T (p.Leu300=)
c.699G>T (p.Leu233=)
 gnomAD v4
12g.49090009C>GCA479715985DHHc.1041G>C (p.Leu347=)
c.900G>C (p.Leu300=)
c.699G>C (p.Leu233=)
 gnomAD v4
12g.49090009C>TCA479715983DHHc.1041G>A (p.Leu347=)
c.900G>A (p.Leu300=)
c.699G>A (p.Leu233=)
 gnomAD v4
12g.49090010A>CCA384714708DHHc.1040T>G (p.Leu347Arg)
c.899T>G (p.Leu300Arg)
c.698T>G (p.Leu233Arg)
12g.49090010A>GCA384714709DHHc.1040T>C (p.Leu347Pro)
c.899T>C (p.Leu300Pro)
c.698T>C (p.Leu233Pro)
 gnomAD v4
12g.49090010A>TCA384714713DHHc.1040T>A (p.Leu347Gln)
c.899T>A (p.Leu300Gln)
c.698T>A (p.Leu233Gln)
 gnomAD v4
12g.49090011G>ACA479715992DHHc.1039C>T (p.Leu347=)
c.898C>T (p.Leu300=)
c.697C>T (p.Leu233=)
 gnomAD v4
12g.49090011G>CCA384714717DHHc.1039C>G (p.Leu347Val)
c.898C>G (p.Leu300Val)
c.697C>G (p.Leu233Val)
12g.49090011G>TCA384714719DHHc.1039C>A (p.Leu347Met)
c.898C>A (p.Leu300Met)
c.697C>A (p.Leu233Met)
 gnomAD v4
12g.49090012A>CCA479716000DHHc.1038T>G (p.Val346=)
c.897T>G (p.Val299=)
c.696T>G (p.Val232=)
12g.49090012A>GCA479716001DHHc.1038T>C (p.Val346=)
c.897T>C (p.Val299=)
c.696T>C (p.Val232=)
 gnomAD v4
12g.49090012A>TCA479716004DHHc.1038T>A (p.Val346=)
c.897T>A (p.Val299=)
c.696T>A (p.Val232=)
12g.49090013A>CCA384714723DHHc.1037T>G (p.Val346Gly)
c.896T>G (p.Val299Gly)
c.695T>G (p.Val232Gly)
12g.49090013A>GCA384714721DHHc.1037T>C (p.Val346Ala)
c.896T>C (p.Val299Ala)
c.695T>C (p.Val232Ala)
12g.49090013A>TCA384714722DHHc.1037T>A (p.Val346Asp)
c.896T>A (p.Val299Asp)
c.695T>A (p.Val232Asp)
12g.49090014C>ACA384714724DHHc.1036G>T (p.Val346Phe)
c.895G>T (p.Val299Phe)
c.694G>T (p.Val232Phe)
 dbSNP gnomAD v3 gnomAD v4
12g.49090014C=CA2034981949DHHc.1036G= (p.Val346=)
c.895G= (p.Val299=)
c.694G= (p.Val232=)
12g.49090014C>GCA384714726DHHc.1036G>C (p.Val346Leu)
c.895G>C (p.Val299Leu)
c.694G>C (p.Val232Leu)
12g.49090014C>TCA384714728DHHc.1036G>A (p.Val346Ile)
c.895G>A (p.Val299Ile)
c.694G>A (p.Val232Ile)
 gnomAD v4
12g.49090015C>ACA479716013DHHc.1035G>T (p.Ala345=)
c.894G>T (p.Ala298=)
c.693G>T (p.Ala231=)
 gnomAD v4
12g.49090015C=CA2034981951DHHc.1035G= (p.Ala345=)
c.894G= (p.Ala298=)
c.693G= (p.Ala231=)
12g.49090015C>GCA479716014DHHc.1035G>C (p.Ala345=)
c.894G>C (p.Ala298=)
c.693G>C (p.Ala231=)
 dbSNP gnomAD v4
12g.49090015C>TCA479716016DHHc.1035G>A (p.Ala345=)
c.894G>A (p.Ala298=)
c.693G>A (p.Ala231=)
 gnomAD v4
12g.49090015_49090027delinsCGCGTAGCAAGAGCA2034981950DHHc.1023_1035delinsCTCTTGCTACGCG (p.Ala341=)
c.882_894delinsCTCTTGCTACGCG (p.Ala294=)
c.681_693delinsCTCTTGCTACGCG (p.Ala227=)
12g.49090016G>ACA384714731DHHc.1034C>T (p.Ala345Val)
c.893C>T (p.Ala298Val)
c.692C>T (p.Ala231Val)
 gnomAD v4
12g.49090016G>CCA384714735DHHc.1034C>G (p.Ala345Gly)
c.893C>G (p.Ala298Gly)
c.692C>G (p.Ala231Gly)
12g.49090016G>TCA384714741DHHc.1034C>A (p.Ala345Glu)
c.893C>A (p.Ala298Glu)
c.692C>A (p.Ala231Glu)
 gnomAD v4
12g.49090018_49090029delCA689553553DHHc.1023_1034del (p.Ser342_Ala345del)
c.882_893del (p.Ser295_Ala298del)
c.681_692del (p.Ser228_Ala231del)
 dbSNP gnomAD v3 gnomAD v4
12g.49090017C>ACA384714745DHHc.1033G>T (p.Ala345Ser)
c.892G>T (p.Ala298Ser)
c.691G>T (p.Ala231Ser)
 gnomAD v4
12g.49090017C=CA2034981952DHHc.1033G= (p.Ala345=)
c.892G= (p.Ala298=)
c.691G= (p.Ala231=)
12g.49090017C>GCA384714746DHHc.1033G>C (p.Ala345Pro)
c.892G>C (p.Ala298Pro)
c.691G>C (p.Ala231Pro)
 dbSNP gnomAD v2 gnomAD v4
12g.49090017C>TCA384714749DHHc.1033G>A (p.Ala345Thr)
c.892G>A (p.Ala298Thr)
c.691G>A (p.Ala231Thr)
 gnomAD v4
12g.49090018G>ACA6549085DHHc.1032C>T (p.Tyr344=)
c.891C>T (p.Tyr297=)
c.690C>T (p.Tyr230=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49090018G>CCA384714755DHHc.1032C>G (p.Tyr344Ter)
c.891C>G (p.Tyr297Ter)
c.690C>G (p.Tyr230Ter)
12g.49090018G=CA2034981953DHHc.1032C= (p.Tyr344=)
c.891C= (p.Tyr297=)
c.690C= (p.Tyr230=)
12g.49090018G>TCA384714758DHHc.1032C>A (p.Tyr344Ter)
c.891C>A (p.Tyr297Ter)
c.690C>A (p.Tyr230Ter)
 dbSNP gnomAD v3 gnomAD v4
12g.49090019T>ACA6549086DHHc.1031A>T (p.Tyr344Phe)
c.890A>T (p.Tyr297Phe)
c.689A>T (p.Tyr230Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49090019T>CCA384714762DHHc.1031A>G (p.Tyr344Cys)
c.890A>G (p.Tyr297Cys)
c.689A>G (p.Tyr230Cys)
 gnomAD v4
12g.49090019T>GCA384714761DHHc.1031A>C (p.Tyr344Ser)
c.890A>C (p.Tyr297Ser)
c.689A>C (p.Tyr230Ser)
12g.49090019T=CA2034981954DHHc.1031A= (p.Tyr344=)
c.890A= (p.Tyr297=)
c.689A= (p.Tyr230=)
12g.49090020A>CCA384714763DHHc.1030T>G (p.Tyr344Asp)
c.889T>G (p.Tyr297Asp)
c.688T>G (p.Tyr230Asp)
12g.49090020A>GCA384714766DHHc.1030T>C (p.Tyr344His)
c.889T>C (p.Tyr297His)
c.688T>C (p.Tyr230His)
12g.49090020A>TCA384714768DHHc.1030T>A (p.Tyr344Asn)
c.889T>A (p.Tyr297Asn)
c.688T>A (p.Tyr230Asn)
 gnomAD v4
12g.49090021G>ACA479716039DHHc.1029C>T (p.Cys343=)
c.888C>T (p.Cys296=)
c.687C>T (p.Cys229=)
 gnomAD v4
12g.49090021G>CCA384714770DHHc.1029C>G (p.Cys343Trp)
c.888C>G (p.Cys296Trp)
c.687C>G (p.Cys229Trp)
12g.49090021G>TCA384714772DHHc.1029C>A (p.Cys343Ter)
c.888C>A (p.Cys296Ter)
c.687C>A (p.Cys229Ter)
 gnomAD v4
12g.49090022C>ACA384714776DHHc.1028G>T (p.Cys343Phe)
c.887G>T (p.Cys296Phe)
c.686G>T (p.Cys229Phe)
 gnomAD v4
12g.49090022C>GCA384714777DHHc.1028G>C (p.Cys343Ser)
c.887G>C (p.Cys296Ser)
c.686G>C (p.Cys229Ser)
12g.49090022C>TCA384714778DHHc.1028G>A (p.Cys343Tyr)
c.887G>A (p.Cys296Tyr)
c.686G>A (p.Cys229Tyr)
 gnomAD v4
12g.49090023A=CA2034981955DHHc.1027T= (p.Cys343=)
c.886T= (p.Cys296=)
c.685T= (p.Cys229=)
12g.49090023A>CCA384714779DHHc.1027T>G (p.Cys343Gly)
c.886T>G (p.Cys296Gly)
c.685T>G (p.Cys229Gly)
 gnomAD v4
12g.49090023A>GCA10588818DHHc.1027T>C (p.Cys343Arg)
c.886T>C (p.Cys296Arg)
c.685T>C (p.Cys229Arg)
 ClinVar dbSNP gnomAD v4
12g.49090023A>TCA384714782DHHc.1027T>A (p.Cys343Ser)
c.886T>A (p.Cys296Ser)
c.685T>A (p.Cys229Ser)
12g.49090024A>CCA479716050DHHc.1026T>G (p.Ser342=)
c.885T>G (p.Ser295=)
c.684T>G (p.Ser228=)
12g.49090024A>GCA479716048DHHc.1026T>C (p.Ser342=)
c.885T>C (p.Ser295=)
c.684T>C (p.Ser228=)
 gnomAD v4
12g.49090024A>TCA479716049DHHc.1026T>A (p.Ser342=)
c.885T>A (p.Ser295=)
c.684T>A (p.Ser228=)
12g.49090025G>ACA384714787DHHc.1025C>T (p.Ser342Phe)
c.884C>T (p.Ser295Phe)
c.683C>T (p.Ser228Phe)
12g.49090025G>CCA384714786DHHc.1025C>G (p.Ser342Cys)
c.884C>G (p.Ser295Cys)
c.683C>G (p.Ser228Cys)
12g.49090025G>TCA384714785DHHc.1025C>A (p.Ser342Tyr)
c.884C>A (p.Ser295Tyr)
c.683C>A (p.Ser228Tyr)
 gnomAD v4
12g.49090026A>CCA384714788DHHc.1024T>G (p.Ser342Ala)
c.883T>G (p.Ser295Ala)
c.682T>G (p.Ser228Ala)
12g.49090026A>GCA384714789DHHc.1024T>C (p.Ser342Pro)
c.883T>C (p.Ser295Pro)
c.682T>C (p.Ser228Pro)
12g.49090026A>TCA384714790DHHc.1024T>A (p.Ser342Thr)
c.883T>A (p.Ser295Thr)
c.682T>A (p.Ser228Thr)
12g.49090027G>ACA479716060DHHc.1023C>T (p.Ala341=)
c.882C>T (p.Ala294=)
c.681C>T (p.Ala227=)
 gnomAD v4
12g.49090027G>CCA479716061DHHc.1023C>G (p.Ala341=)
c.882C>G (p.Ala294=)
c.681C>G (p.Ala227=)
12g.49090027G>TCA479716062DHHc.1023C>A (p.Ala341=)
c.882C>A (p.Ala294=)
c.681C>A (p.Ala227=)
 gnomAD v4

Number of alleles fetched