Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.46705798G>ACA142254TMIEc.102G>A (p.Thr34=)
c.-58G>A (n.-58G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705798G>CCA433458603TMIEc.102G>C (p.Thr34=)
c.-58G>C (n.-58G>C)
3g.46705798G=CA1362233093TMIEc.102G= (p.Thr34=)
c.-58G= (n.-58G=)
3g.46705798G>TCA433458602TMIEc.102G>T (p.Thr34=)
c.-58G>T (n.-58G>T)
 dbSNP
3g.46705799G>ACA352478930TMIEc.103G>A (p.Ala35Thr)
c.-57G>A (n.-57G>A)
c.1G>A (p.Ala1Thr)
3g.46705799G>CCA352478932TMIEc.103G>C (p.Ala35Pro)
c.-57G>C (n.-57G>C)
c.1G>C (p.Ala1Pro)
3g.46705799G>TCA352478933TMIEc.103G>T (p.Ala35Ser)
c.-57G>T (n.-57G>T)
c.1G>T (p.Ala1Ser)
3g.46705800C>ACA352478934TMIEc.104C>A (p.Ala35Asp)
c.-56C>A (n.-56C>A)
c.2C>A (p.Ala1Asp)
3g.46705800C=CA1362233094TMIEc.104C= (p.Ala35=)
c.-56C= (n.-56C=)
c.2C= (p.Ala1=)
3g.46705800C>GCA73730238TMIEc.104C>G (p.Ala35Gly)
c.-56C>G (n.-56C>G)
c.2C>G (p.Ala1Gly)
 dbSNP
3g.46705800C>TCA352478936TMIEc.104C>T (p.Ala35Val)
c.-56C>T (n.-56C>T)
c.2C>T (p.Ala1Val)
 dbSNP gnomAD v2
3g.46705801C>ACA433458605TMIEc.105C>A (p.Ala35=)
c.-55C>A (n.-55C>A)
c.3C>A (p.Ala1=)
3g.46705801C>GCA433458607TMIEc.105C>G (p.Ala35=)
c.-55C>G (n.-55C>G)
c.3C>G (p.Ala1=)
3g.46705801C>TCA433458608TMIEc.105C>T (p.Ala35=)
c.-55C>T (n.-55C>T)
c.3C>T (p.Ala1=)
3g.46705802C>ACA352478940TMIEc.106C>A (p.Pro36Thr)
c.-54C>A (n.-54C>A)
c.4C>A (p.Pro2Thr)
3g.46705802C>GCA352478942TMIEc.106C>G (p.Pro36Ala)
c.-54C>G (n.-54C>G)
c.4C>G (p.Pro2Ala)
3g.46705802C>TCA352478938TMIEc.106C>T (p.Pro36Ser)
c.-54C>T (n.-54C>T)
c.4C>T (p.Pro2Ser)
 gnomAD v4
3g.46705803C>ACA352478944TMIEc.107C>A (p.Pro36Gln)
c.-53C>A (n.-53C>A)
c.5C>A (p.Pro2Gln)
3g.46705803C>GCA352478945TMIEc.107C>G (p.Pro36Arg)
c.-53C>G (n.-53C>G)
c.5C>G (p.Pro2Arg)
3g.46705803C>TCA352478947TMIEc.107C>T (p.Pro36Leu)
c.-53C>T (n.-53C>T)
c.5C>T (p.Pro2Leu)
3g.46705804A=CA1362233095TMIEc.108A= (p.Pro36=)
c.-52A= (n.-52A=)
c.6A= (p.Pro2=)
3g.46705804A>CCA433458609TMIEc.108A>C (p.Pro36=)
c.-52A>C (n.-52A>C)
c.6A>C (p.Pro2=)
 dbSNP gnomAD v4
3g.46705804A>GCA433458610TMIEc.108A>G (p.Pro36=)
c.-52A>G (n.-52A>G)
c.6A>G (p.Pro2=)
3g.46705804A>TCA433458611TMIEc.108A>T (p.Pro36=)
c.-52A>T (n.-52A>T)
c.6A>T (p.Pro2=)
3g.46705805C>ACA352478949TMIEc.109C>A (p.Pro37Thr)
c.-51C>A (n.-51C>A)
c.7C>A (p.Pro3Thr)
3g.46705805C>GCA352478950TMIEc.109C>G (p.Pro37Ala)
c.-51C>G (n.-51C>G)
c.7C>G (p.Pro3Ala)
3g.46705805C>TCA352478951TMIEc.109C>T (p.Pro37Ser)
c.-51C>T (n.-51C>T)
c.7C>T (p.Pro3Ser)
3g.46705806C>ACA352478954TMIEc.110C>A (p.Pro37His)
c.-50C>A (n.-50C>A)
c.8C>A (p.Pro3His)
3g.46705806C>GCA352478955TMIEc.110C>G (p.Pro37Arg)
c.-50C>G (n.-50C>G)
c.8C>G (p.Pro3Arg)
3g.46705806C>TCA352478956TMIEc.110C>T (p.Pro37Leu)
c.-50C>T (n.-50C>T)
c.8C>T (p.Pro3Leu)
3g.46705807C>ACA433458613TMIEc.111C>A (p.Pro37=)
c.-49C>A (n.-49C>A)
c.9C>A (p.Pro3=)
3g.46705807C>GCA433458614TMIEc.111C>G (p.Pro37=)
c.-49C>G (n.-49C>G)
c.9C>G (p.Pro3=)
 gnomAD v4
3g.46705807C>TCA433458615TMIEc.111C>T (p.Pro37=)
c.-49C>T (n.-49C>T)
c.9C>T (p.Pro3=)
3g.46705808A>CCA352478957TMIEc.112A>C (p.Lys38Gln)
c.-48A>C (n.-48A>C)
c.10A>C (p.Lys4Gln)
3g.46705808A>GCA352478958TMIEc.112A>G (p.Lys38Glu)
c.-48A>G (n.-48A>G)
c.10A>G (p.Lys4Glu)
3g.46705808A>TCA352478959TMIEc.112A>T (p.Lys38Ter)
c.-48A>T (n.-48A>T)
c.10A>T (p.Lys4Ter)
3g.46705809A=CA1362233096TMIEc.113A= (p.Lys38=)
c.-47A= (n.-47A=)
c.11A= (p.Lys4=)
3g.46705809A>CCA73730240TMIEc.113A>C (p.Lys38Thr)
c.-47A>C (n.-47A>C)
c.11A>C (p.Lys4Thr)
 dbSNP
3g.46705809A>GCA352478963TMIEc.113A>G (p.Lys38Arg)
c.-47A>G (n.-47A>G)
c.11A>G (p.Lys4Arg)
3g.46705809A>TCA352478961TMIEc.113A>T (p.Lys38Met)
c.-47A>T (n.-47A>T)
c.11A>T (p.Lys4Met)
3g.46705810G>ACA433458617TMIEc.114G>A (p.Lys38=)
c.-46G>A (n.-46G>A)
c.12G>A (p.Lys4=)
 gnomAD v4
3g.46705810G>CCA352478965TMIEc.114G>C (p.Lys38Asn)
c.-46G>C (n.-46G>C)
c.12G>C (p.Lys4Asn)
3g.46705810G>TCA352478967TMIEc.114G>T (p.Lys38Asn)
c.-46G>T (n.-46G>T)
c.12G>T (p.Lys4Asn)
3g.46705811C>ACA352478968TMIEc.115C>A (p.Pro39Thr)
c.-45C>A (n.-45C>A)
c.13C>A (p.Pro5Thr)
3g.46705811C>GCA352478970TMIEc.115C>G (p.Pro39Ala)
c.-45C>G (n.-45C>G)
c.13C>G (p.Pro5Ala)
3g.46705811C>TCA352478971TMIEc.115C>T (p.Pro39Ser)
c.-45C>T (n.-45C>T)
c.13C>T (p.Pro5Ser)
3g.46705812C>ACA352478976TMIEc.116C>A (p.Pro39His)
c.-44C>A (n.-44C>A)
c.14C>A (p.Pro5His)
3g.46705812C>GCA352478973TMIEc.116C>G (p.Pro39Arg)
c.-44C>G (n.-44C>G)
c.14C>G (p.Pro5Arg)
 gnomAD v4
3g.46705812C>TCA352478975TMIEc.116C>T (p.Pro39Leu)
c.-44C>T (n.-44C>T)
c.14C>T (p.Pro5Leu)
3g.46705813C>ACA433458619TMIEc.117C>A (p.Pro39=)
c.-43C>A (n.-43C>A)
c.15C>A (p.Pro5=)
3g.46705813C>GCA433458620TMIEc.117C>G (p.Pro39=)
c.-43C>G (n.-43C>G)
c.15C>G (p.Pro5=)
3g.46705813C>TCA433458622TMIEc.117C>T (p.Pro39=)
c.-43C>T (n.-43C>T)
c.15C>T (p.Pro5=)
3g.46705814A>CCA352478979TMIEc.118A>C (p.Lys40Gln)
c.-42A>C (n.-42A>C)
c.16A>C (p.Lys6Gln)
3g.46705814A>GCA352478980TMIEc.118A>G (p.Lys40Glu)
c.-42A>G (n.-42A>G)
c.16A>G (p.Lys6Glu)
3g.46705814A>TCA352478981TMIEc.118A>T (p.Lys40Ter)
c.-42A>T (n.-42A>T)
c.16A>T (p.Lys6Ter)
3g.46705815A>CCA352478984TMIEc.119A>C (p.Lys40Thr)
c.-41A>C (n.-41A>C)
c.17A>C (p.Lys6Thr)
3g.46705815A>GCA352478985TMIEc.119A>G (p.Lys40Arg)
c.-41A>G (n.-41A>G)
c.17A>G (p.Lys6Arg)
 gnomAD v4
3g.46705815A>TCA352478987TMIEc.119A>T (p.Lys40Met)
c.-41A>T (n.-41A>T)
c.17A>T (p.Lys6Met)
3g.46705816G>ACA433458624TMIEc.120G>A (p.Lys40=)
c.-40G>A (n.-40G>A)
c.18G>A (p.Lys6=)
3g.46705816G>CCA352478989TMIEc.120G>C (p.Lys40Asn)
c.-40G>C (n.-40G>C)
c.18G>C (p.Lys6Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.46705816G=CA1362233098TMIEc.120G= (p.Lys40=)
c.-40G= (n.-40G=)
c.18G= (p.Lys6=)
3g.46705816G>TCA352478988TMIEc.120G>T (p.Lys40Asn)
c.-40G>T (n.-40G>T)
c.18G>T (p.Lys6Asn)
 dbSNP
3g.46705816_46705820delinsGCCGCCA1362233097TMIEc.120_124delinsGCCGC (p.Lys40=)
c.-40_-36delinsGCCGC (n.-40_-36delinsGCCGC)
c.18_22delinsGCCGC (p.Lys6=)
3g.46705817C>ACA352478990TMIEc.121C>A (p.Pro41Thr)
c.-39C>A (n.-39C>A)
c.19C>A (p.Pro7Thr)
3g.46705817C>GCA352478992TMIEc.121C>G (p.Pro41Ala)
c.-39C>G (n.-39C>G)
c.19C>G (p.Pro7Ala)
3g.46705817C>TCA352478994TMIEc.121C>T (p.Pro41Ser)
c.-39C>T (n.-39C>T)
c.19C>T (p.Pro7Ser)
 gnomAD v4 COSMIC
3g.46705818_46705821dupCA542720064TMIEc.122_125dup (p.Pro43AlafsTer?)
c.-38_-35dup (n.-38_-35dup)
c.20_23dup (p.Pro9AlafsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.46705818_46705821delCA10575478TMIEc.122_125del (p.Pro41LeufsTer3)
c.-38_-35del (n.-38_-35del)
c.20_23del (p.Pro7LeufsTer3)
 ClinVar dbSNP
3g.46705818C>ACA352478996TMIEc.122C>A (p.Pro41Gln)
c.-38C>A (n.-38C>A)
c.20C>A (p.Pro7Gln)
 dbSNP gnomAD v2 gnomAD v4
3g.46705818C=CA1362233099TMIEc.122C= (p.Pro41=)
c.-38C= (n.-38C=)
c.20C= (p.Pro7=)
3g.46705818C>GCA352478998TMIEc.122C>G (p.Pro41Arg)
c.-38C>G (n.-38C>G)
c.20C>G (p.Pro7Arg)
3g.46705818C>TCA2357932TMIEc.122C>T (p.Pro41Leu)
c.-38C>T (n.-38C>T)
c.20C>T (p.Pro7Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705819G>ACA2357933TMIEc.123G>A (p.Pro41=)
c.-37G>A (n.-37G>A)
c.21G>A (p.Pro7=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.46705819G>CCA433458632TMIEc.123G>C (p.Pro41=)
c.-37G>C (n.-37G>C)
c.21G>C (p.Pro7=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46705819G=CA1362233100TMIEc.123G= (p.Pro41=)
c.-37G= (n.-37G=)
c.21G= (p.Pro7=)
3g.46705819G>TCA433458631TMIEc.123G>T (p.Pro41=)
c.-37G>T (n.-37G>T)
c.21G>T (p.Pro7=)
 dbSNP gnomAD v2 gnomAD v4
3g.46705820C>ACA352479002TMIEc.124C>A (p.Pro42Thr)
c.-36C>A (n.-36C>A)
c.22C>A (p.Pro8Thr)
3g.46705820C=CA1362233101TMIEc.124C= (p.Pro42=)
c.-36C= (n.-36C=)
c.22C= (p.Pro8=)
3g.46705820C>GCA352479004TMIEc.124C>G (p.Pro42Ala)
c.-36C>G (n.-36C>G)
c.22C>G (p.Pro8Ala)
3g.46705820C>TCA352479003TMIEc.124C>T (p.Pro42Ser)
c.-36C>T (n.-36C>T)
c.22C>T (p.Pro8Ser)
 dbSNP gnomAD v4
3g.46705821C>ACA352479005TMIEc.125C>A (p.Pro42His)
c.-35C>A (n.-35C>A)
c.23C>A (p.Pro8His)
3g.46705821C=CA1362233102TMIEc.125C= (p.Pro42=)
c.-35C= (n.-35C=)
c.23C= (p.Pro8=)
3g.46705821C>GCA352479007TMIEc.125C>G (p.Pro42Arg)
c.-35C>G (n.-35C>G)
c.23C>G (p.Pro8Arg)
3g.46705821C>TCA352479009TMIEc.125C>T (p.Pro42Leu)
c.-35C>T (n.-35C>T)
c.23C>T (p.Pro8Leu)
 dbSNP
3g.46705822T>ACA433458636TMIEc.126T>A (p.Pro42=)
c.-34T>A (n.-34T>A)
c.24T>A (p.Pro8=)
3g.46705822T>CCA433458637TMIEc.126T>C (p.Pro42=)
c.-34T>C (n.-34T>C)
c.24T>C (p.Pro8=)
3g.46705822T>GCA2357934TMIEc.126T>G (p.Pro42=)
c.-34T>G (n.-34T>G)
c.24T>G (p.Pro8=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705822T=CA1362233103TMIEc.126T= (p.Pro42=)
c.-34T= (n.-34T=)
c.24T= (p.Pro8=)
3g.46705823C>ACA352479011TMIEc.127C>A (p.Pro43Thr)
c.-33C>A (n.-33C>A)
c.25C>A (p.Pro9Thr)
3g.46705823C=CA1362233104TMIEc.127C= (p.Pro43=)
c.-33C= (n.-33C=)
c.25C= (p.Pro9=)
3g.46705823C>GCA352479014TMIEc.127C>G (p.Pro43Ala)
c.-33C>G (n.-33C>G)
c.25C>G (p.Pro9Ala)
3g.46705823C>TCA352479013TMIEc.127C>T (p.Pro43Ser)
c.-33C>T (n.-33C>T)
c.25C>T (p.Pro9Ser)
 dbSNP
3g.46705824dupCA542720070TMIEc.128dup (p.Leu44AlafsTer?)
c.-32dup (n.-32dup)
c.26dup (p.Leu10AlafsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46705824C>ACA352479016TMIEc.128C>A (p.Pro43Gln)
c.-32C>A (n.-32C>A)
c.26C>A (p.Pro9Gln)
3g.46705824C=CA1362233105TMIEc.128C= (p.Pro43=)
c.-32C= (n.-32C=)
c.26C= (p.Pro9=)
3g.46705824C>GCA352479018TMIEc.128C>G (p.Pro43Arg)
c.-32C>G (n.-32C>G)
c.26C>G (p.Pro9Arg)
3g.46705824C>TCA2357935TMIEc.128C>T (p.Pro43Leu)
c.-32C>T (n.-32C>T)
c.26C>T (p.Pro9Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.46705825G>ACA2357936TMIEc.129G>A (p.Pro43=)
c.-31G>A (n.-31G>A)
c.27G>A (p.Pro9=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705825G>CCA433458639TMIEc.129G>C (p.Pro43=)
c.-31G>C (n.-31G>C)
c.27G>C (p.Pro9=)
 dbSNP
3g.46705825G=CA1362233106TMIEc.129G= (p.Pro43=)
c.-31G= (n.-31G=)
c.27G= (p.Pro9=)
3g.46705825G>TCA433458640TMIEc.129G>T (p.Pro43=)
c.-31G>T (n.-31G>T)
c.27G>T (p.Pro9=)
3g.46705826C>ACA352479021TMIEc.130C>A (p.Leu44Met)
c.-30C>A (n.-30C>A)
c.28C>A (p.Leu10Met)
 dbSNP gnomAD v3 gnomAD v4
3g.46705826C=CA1362233108TMIEc.130C= (p.Leu44=)
c.-30C= (n.-30C=)
c.28C= (p.Leu10=)
3g.46705826C>GCA352479023TMIEc.130C>G (p.Leu44Val)
c.-30C>G (n.-30C>G)
c.28C>G (p.Leu10Val)
 dbSNP
3g.46705826C>TCA433458641TMIEc.130C>T (p.Leu44=)
c.-30C>T (n.-30C>T)
c.28C>T (p.Leu10=)
3g.46705826_46705827delinsCTCA1362233107TMIEc.130_131delinsCT (p.Leu44=)
c.-30_-29delinsCT (n.-30_-29delinsCT)
c.28_29delinsCT (p.Leu10=)
3g.46705827delCA542720074TMIEc.131del (p.Leu44ArgfsTer?)
c.-29del (n.-29del)
c.29del (p.Leu10ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46705827T>ACA352479025TMIEc.131T>A (p.Leu44Gln)
c.-29T>A (n.-29T>A)
c.29T>A (p.Leu10Gln)
3g.46705827T>CCA352479027TMIEc.131T>C (p.Leu44Pro)
c.-29T>C (n.-29T>C)
c.29T>C (p.Leu10Pro)
 dbSNP
3g.46705827T>GCA352479028TMIEc.131T>G (p.Leu44Arg)
c.-29T>G (n.-29T>G)
c.29T>G (p.Leu10Arg)
3g.46705827T=CA1362233109TMIEc.131T= (p.Leu44=)
c.-29T= (n.-29T=)
c.29T= (p.Leu10=)
3g.46705828G>ACA433458643TMIEc.132G>A (p.Leu44=)
c.-28G>A (n.-28G>A)
c.30G>A (p.Leu10=)
 gnomAD v4
3g.46705828G>CCA433458644TMIEc.132G>C (p.Leu44=)
c.-28G>C (n.-28G>C)
c.30G>C (p.Leu10=)
3g.46705828G>TCA433458645TMIEc.132G>T (p.Leu44=)
c.-28G>T (n.-28G>T)
c.30G>T (p.Leu10=)
 gnomAD v4
3g.46705829A>CCA352479030TMIEc.133A>C (p.Thr45Pro)
c.-27A>C (n.-27A>C)
c.31A>C (p.Thr11Pro)
3g.46705829A>GCA352479032TMIEc.133A>G (p.Thr45Ala)
c.-27A>G (n.-27A>G)
c.31A>G (p.Thr11Ala)
3g.46705829A>TCA352479033TMIEc.133A>T (p.Thr45Ser)
c.-27A>T (n.-27A>T)
c.31A>T (p.Thr11Ser)
3g.46705830C>ACA352479037TMIEc.134C>A (p.Thr45Asn)
c.-26C>A (n.-26C>A)
c.32C>A (p.Thr11Asn)
3g.46705830C=CA1362233110TMIEc.134C= (p.Thr45=)
c.-26C= (n.-26C=)
c.32C= (p.Thr11=)
3g.46705830C>GCA352479035TMIEc.134C>G (p.Thr45Ser)
c.-26C>G (n.-26C>G)
c.32C>G (p.Thr11Ser)
3g.46705830C>TCA73730293TMIEc.134C>T (p.Thr45Ile)
c.-26C>T (n.-26C>T)
c.32C>T (p.Thr11Ile)
 dbSNP
3g.46705831C>ACA433458649TMIEc.135C>A (p.Thr45=)
c.-25C>A (n.-25C>A)
c.33C>A (p.Thr11=)
3g.46705831C=CA1362233111TMIEc.135C= (p.Thr45=)
c.-25C= (n.-25C=)
c.33C= (p.Thr11=)
3g.46705831C>GCA433458650TMIEc.135C>G (p.Thr45=)
c.-25C>G (n.-25C>G)
c.33C>G (p.Thr11=)
 dbSNP gnomAD v3 gnomAD v4
3g.46705831C>TCA433458651TMIEc.135C>T (p.Thr45=)
c.-25C>T (n.-25C>T)
c.33C>T (p.Thr11=)
3g.46705832A>CCA352479039TMIEc.136A>C (p.Lys46Gln)
c.-24A>C (n.-24A>C)
c.34A>C (p.Lys12Gln)
3g.46705832A>GCA352479040TMIEc.136A>G (p.Lys46Glu)
c.-24A>G (n.-24A>G)
c.34A>G (p.Lys12Glu)
3g.46705832A>TCA352479042TMIEc.136A>T (p.Lys46Ter)
c.-24A>T (n.-24A>T)
c.34A>T (p.Lys12Ter)
3g.46705833A>CCA352479044TMIEc.137A>C (p.Lys46Thr)
c.-23A>C (n.-23A>C)
c.35A>C (p.Lys12Thr)
3g.46705833A>GCA352479045TMIEc.137A>G (p.Lys46Arg)
c.-23A>G (n.-23A>G)
c.35A>G (p.Lys12Arg)
3g.46705833A>TCA352479046TMIEc.137A>T (p.Lys46Met)
c.-23A>T (n.-23A>T)
c.35A>T (p.Lys12Met)
3g.46705834G>ACA433458655TMIEc.138G>A (p.Lys46=)
c.-22G>A (n.-22G>A)
c.36G>A (p.Lys12=)
 dbSNP gnomAD v2 gnomAD v4
3g.46705834G>CCA352479047TMIEc.138G>C (p.Lys46Asn)
c.-22G>C (n.-22G>C)
c.36G>C (p.Lys12Asn)
3g.46705834G=CA1362233112TMIEc.138G= (p.Lys46=)
c.-22G= (n.-22G=)
c.36G= (p.Lys12=)
3g.46705834G>TCA352479048TMIEc.138G>T (p.Lys46Asn)
c.-22G>T (n.-22G>T)
c.36G>T (p.Lys12Asn)
3g.46705835G>ACA352479050TMIEc.139G>A (p.Glu47Lys)
c.-21G>A (n.-21G>A)
c.37G>A (p.Glu13Lys)
 gnomAD v4
3g.46705835G>CCA352479052TMIEc.139G>C (p.Glu47Gln)
c.-21G>C (n.-21G>C)
c.37G>C (p.Glu13Gln)
3g.46705835G=CA1362233113TMIEc.139G= (p.Glu47=)
c.-21G= (n.-21G=)
c.37G= (p.Glu13=)
3g.46705835G>TCA2357937TMIEc.139G>T (p.Glu47Ter)
c.-21G>T (n.-21G>T)
c.37G>T (p.Glu13Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46705836A=CA1362233114TMIEc.140A= (p.Glu47=)
c.-20A= (n.-20A=)
c.38A= (p.Glu13=)
3g.46705836A>CCA352479055TMIEc.140A>C (p.Glu47Ala)
c.-20A>C (n.-20A>C)
c.38A>C (p.Glu13Ala)
 gnomAD v4
3g.46705836A>GCA352479057TMIEc.140A>G (p.Glu47Gly)
c.-20A>G (n.-20A>G)
c.38A>G (p.Glu13Gly)
 dbSNP gnomAD v3 gnomAD v4
3g.46705836A>TCA352479058TMIEc.140A>T (p.Glu47Val)
c.-20A>T (n.-20A>T)
c.38A>T (p.Glu13Val)
3g.46705837G>ACA433458656TMIEc.141G>A (p.Glu47=)
c.-19G>A (n.-19G>A)
c.39G>A (p.Glu13=)
 gnomAD v4
3g.46705837G>CCA352479062TMIEc.141G>C (p.Glu47Asp)
c.-19G>C (n.-19G>C)
c.39G>C (p.Glu13Asp)
 gnomAD v4
3g.46705837G>TCA352479060TMIEc.141G>T (p.Glu47Asp)
c.-19G>T (n.-19G>T)
c.39G>T (p.Glu13Asp)
3g.46705838A=CA1362233115TMIEc.142A= (p.Thr48=)
c.-18A= (n.-18A=)
c.40A= (p.Thr14=)
3g.46705838A>CCA73730302TMIEc.142A>C (p.Thr48Pro)
c.-18A>C (n.-18A>C)
c.40A>C (p.Thr14Pro)
 dbSNP
3g.46705838A>GCA352479064TMIEc.142A>G (p.Thr48Ala)
c.-18A>G (n.-18A>G)
c.40A>G (p.Thr14Ala)
3g.46705838A>TCA352479065TMIEc.142A>T (p.Thr48Ser)
c.-18A>T (n.-18A>T)
c.40A>T (p.Thr14Ser)
3g.46705839C>ACA352479067TMIEc.143C>A (p.Thr48Lys)
c.-17C>A (n.-17C>A)
c.41C>A (p.Thr14Lys)
3g.46705839C=CA1362233116TMIEc.143C= (p.Thr48=)
c.-17C= (n.-17C=)
c.41C= (p.Thr14=)
3g.46705839C>GCA352479069TMIEc.143C>G (p.Thr48Arg)
c.-17C>G (n.-17C>G)
c.41C>G (p.Thr14Arg)
 ClinVar dbSNP gnomAD v4
3g.46705839C>TCA352479070TMIEc.143C>T (p.Thr48Ile)
c.-17C>T (n.-17C>T)
c.41C>T (p.Thr14Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.46705839_46705841delinsCAGCA1362233117TMIEc.143_145delinsCAG (p.Thr48=)
c.-17_-15delinsCAG (n.-17_-15delinsCAG)
c.41_43delinsCAG (p.Thr14=)
3g.46705840A=CA1362233119TMIEc.144A= (p.Thr48=)
c.-16A= (n.-16A=)
c.42A= (p.Thr14=)
3g.46705840A>CCA433458658TMIEc.144A>C (p.Thr48=)
c.-16A>C (n.-16A>C)
c.42A>C (p.Thr14=)
3g.46705840A>GCA10618723TMIEc.144A>G (p.Thr48=)
c.-16A>G (n.-16A>G)
c.42A>G (p.Thr14=)
 ClinVar dbSNP gnomAD v4
3g.46705840A>TCA433458659TMIEc.144A>T (p.Thr48=)
c.-16A>T (n.-16A>T)
c.42A>T (p.Thr14=)
3g.46705840_46705841delCA1362233118TMIEc.144_145del (p.Val49GlyfsTer?)
c.-16_-15del (n.-16_-15del)
c.42_43del (p.Val15GlyfsTer?)
 ClinVar dbSNP
3g.46705841G>ACA352479072TMIEc.145G>A (p.Val49Met)
c.-15G>A (n.-15G>A)
c.43G>A (p.Val15Met)
3g.46705841G>CCA352479073TMIEc.145G>C (p.Val49Leu)
c.-15G>C (n.-15G>C)
c.43G>C (p.Val15Leu)
3g.46705841G>TCA352479075TMIEc.145G>T (p.Val49Leu)
c.-15G>T (n.-15G>T)
c.43G>T (p.Val15Leu)
3g.46705842T>ACA352479076TMIEc.146T>A (p.Val49Glu)
c.-14T>A (n.-14T>A)
c.44T>A (p.Val15Glu)
3g.46705842T>CCA2357938TMIEc.146T>C (p.Val49Ala)
c.-14T>C (n.-14T>C)
c.44T>C (p.Val15Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705842T>GCA352479077TMIEc.146T>G (p.Val49Gly)
c.-14T>G (n.-14T>G)
c.44T>G (p.Val15Gly)
3g.46705842T=CA1362233120TMIEc.146T= (p.Val49=)
c.-14T= (n.-14T=)
c.44T= (p.Val15=)
3g.46705843G>ACA433458662TMIEc.147G>A (p.Val49=)
c.-13G>A (n.-13G>A)
c.45G>A (p.Val15=)
 gnomAD v4
3g.46705843G>CCA433458663TMIEc.147G>C (p.Val49=)
c.-13G>C (n.-13G>C)
c.45G>C (p.Val15=)
3g.46705843G>TCA433458664TMIEc.147G>T (p.Val49=)
c.-13G>T (n.-13G>T)
c.45G>T (p.Val15=)
3g.46705844G>ACA352479081TMIEc.148G>A (p.Val50Met)
c.-12G>A (n.-12G>A)
c.46G>A (p.Val16Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.46705844G>CCA352479078TMIEc.148G>C (p.Val50Leu)
c.-12G>C (n.-12G>C)
c.46G>C (p.Val16Leu)
3g.46705844G=CA1362233121TMIEc.148G= (p.Val50=)
c.-12G= (n.-12G=)
c.46G= (p.Val16=)
3g.46705844G>TCA2357939TMIEc.148G>T (p.Val50Leu)
c.-12G>T (n.-12G>T)
c.46G>T (p.Val16Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705845T>ACA352479083TMIEc.149T>A (p.Val50Glu)
c.-11T>A (n.-11T>A)
c.47T>A (p.Val16Glu)
3g.46705845T>CCA352479084TMIEc.149T>C (p.Val50Ala)
c.-11T>C (n.-11T>C)
c.47T>C (p.Val16Ala)
 COSMIC
3g.46705845T>GCA352479085TMIEc.149T>G (p.Val50Gly)
c.-11T>G (n.-11T>G)
c.47T>G (p.Val16Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.46705845T=CA1362233122TMIEc.149T= (p.Val50=)
c.-11T= (n.-11T=)
c.47T= (p.Val16=)
3g.46705846G>ACA433458666TMIEc.150G>A (p.Val50=)
c.-10G>A (n.-10G>A)
c.48G>A (p.Val16=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46705846G>CCA433458667TMIEc.150G>C (p.Val50=)
c.-10G>C (n.-10G>C)
c.48G>C (p.Val16=)
3g.46705846G=CA1362233123TMIEc.150G= (p.Val50=)
c.-10G= (n.-10G=)
c.48G= (p.Val16=)
3g.46705846G>TCA433458668TMIEc.150G>T (p.Val50=)
c.-10G>T (n.-10G>T)
c.48G>T (p.Val16=)
3g.46705847T>ACA352479087TMIEc.151T>A (p.Phe51Ile)
c.-9T>A (n.-9T>A)
c.49T>A (p.Phe17Ile)
3g.46705847T>CCA352479088TMIEc.151T>C (p.Phe51Leu)
c.-9T>C (n.-9T>C)
c.49T>C (p.Phe17Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46705847T>GCA352479090TMIEc.151T>G (p.Phe51Val)
c.-9T>G (n.-9T>G)
c.49T>G (p.Phe17Val)
3g.46705847T=CA1362233124TMIEc.151T= (p.Phe51=)
c.-9T= (n.-9T=)
c.49T= (p.Phe17=)
3g.46705848dupCA2841530149TMIEc.152dup (p.Trp52LeufsTer?)
c.-8dup (n.-8dup)
c.50dup (p.Trp18LeufsTer?)
3g.46705848T>ACA352479092TMIEc.152T>A (p.Phe51Tyr)
c.-8T>A (n.-8T>A)
c.50T>A (p.Phe17Tyr)
3g.46705848T>CCA352479093TMIEc.152T>C (p.Phe51Ser)
c.-8T>C (n.-8T>C)
c.50T>C (p.Phe17Ser)
3g.46705848T>GCA352479094TMIEc.152T>G (p.Phe51Cys)
c.-8T>G (n.-8T>G)
c.50T>G (p.Phe17Cys)
3g.46705849C>ACA352479096TMIEc.153C>A (p.Phe51Leu)
c.-7C>A (n.-7C>A)
c.51C>A (p.Phe17Leu)
3g.46705849C>GCA352479097TMIEc.153C>G (p.Phe51Leu)
c.-7C>G (n.-7C>G)
c.51C>G (p.Phe17Leu)
3g.46705849C>TCA433458669TMIEc.153C>T (p.Phe51=)
c.-7C>T (n.-7C>T)
c.51C>T (p.Phe17=)
 gnomAD v4
3g.46705850T>ACA352479099TMIEc.154T>A (p.Trp52Arg)
c.-6T>A (n.-6T>A)
c.52T>A (p.Trp18Arg)
 gnomAD v4
3g.46705850T>CCA352479102TMIEc.154T>C (p.Trp52Arg)
c.-6T>C (n.-6T>C)
c.52T>C (p.Trp18Arg)
 gnomAD v4
3g.46705850T>GCA352479104TMIEc.154T>G (p.Trp52Gly)
c.-6T>G (n.-6T>G)
c.52T>G (p.Trp18Gly)
3g.46705851G>ACA352479109TMIEc.155G>A (p.Trp52Ter)
c.-5G>A (n.-5G>A)
c.53G>A (p.Trp18Ter)
3g.46705851G>CCA352479108TMIEc.155G>C (p.Trp52Ser)
c.-5G>C (n.-5G>C)
c.53G>C (p.Trp18Ser)
3g.46705851G>TCA352479106TMIEc.155G>T (p.Trp52Leu)
c.-5G>T (n.-5G>T)
c.53G>T (p.Trp18Leu)
3g.46705852G>ACA352479111TMIEc.156G>A (p.Trp52Ter)
c.-4G>A (n.-4G>A)
c.54G>A (p.Trp18Ter)
3g.46705852G>CCA352479113TMIEc.156G>C (p.Trp52Cys)
c.-4G>C (n.-4G>C)
c.54G>C (p.Trp18Cys)
3g.46705852G>TCA352479115TMIEc.156G>T (p.Trp52Cys)
c.-4G>T (n.-4G>T)
c.54G>T (p.Trp18Cys)
3g.46705853G>ACA352479116TMIEc.157G>A (p.Asp53Asn)
c.-3G>A (n.-3G>A)
c.55G>A (p.Asp19Asn)
3g.46705853G>CCA352479118TMIEc.157G>C (p.Asp53His)
c.-3G>C (n.-3G>C)
c.55G>C (p.Asp19His)
 gnomAD v4
3g.46705853G>TCA352479120TMIEc.157G>T (p.Asp53Tyr)
c.-3G>T (n.-3G>T)
c.55G>T (p.Asp19Tyr)
3g.46705854A=CA1362233125TMIEc.158A= (p.Asp53=)
c.-2A= (n.-2A=)
c.56A= (p.Asp19=)
3g.46705854A>CCA352479121TMIEc.158A>C (p.Asp53Ala)
c.-2A>C (n.-2A>C)
c.56A>C (p.Asp19Ala)
 gnomAD v4
3g.46705854A>GCA352479123TMIEc.158A>G (p.Asp53Gly)
c.-2A>G (n.-2A>G)
c.56A>G (p.Asp19Gly)
3g.46705854A>TCA2357940TMIEc.158A>T (p.Asp53Val)
c.-2A>T (n.-2A>T)
c.56A>T (p.Asp19Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705855C>ACA352479126TMIEc.159C>A (p.Asp53Glu)
c.-1C>A (n.-1C>A)
c.57C>A (p.Asp19Glu)
3g.46705855C=CA1362233126TMIEc.159C= (p.Asp53=)
c.-1C= (n.-1C=)
c.57C= (p.Asp19=)
3g.46705855C>GCA352479127TMIEc.159C>G (p.Asp53Glu)
c.-1C>G (n.-1C>G)
c.57C>G (p.Asp19Glu)
3g.46705855C>TCA433458671TMIEc.159C>T (p.Asp53=)
c.-1C>T (n.-1C>T)
c.57C>T (p.Asp19=)
 dbSNP gnomAD v2 gnomAD v4
3g.46705856A=CA1362233127TMIEc.160A= (p.Met54=)
c.1A= (p.Met1=)
c.58A= (p.Met20=)
3g.46705856A>CCA352479130TMIEc.160A>C (p.Met54Leu)
c.1A>C (p.Met1Leu)
c.58A>C (p.Met20Leu)
3g.46705856A>GCA352479131TMIEc.160A>G (p.Met54Val)
c.1A>G (p.Met1Val)
c.58A>G (p.Met20Val)
 dbSNP gnomAD v3 gnomAD v4
3g.46705856A>TCA352479133TMIEc.160A>T (p.Met54Leu)
c.1A>T (p.Met1Leu)
c.58A>T (p.Met20Leu)
3g.46705857T>ACA352479137TMIEc.161T>A (p.Met54Lys)
c.2T>A (p.Met1Lys)
c.59T>A (p.Met20Lys)
 gnomAD v4
3g.46705857T>CCA2357941TMIEc.161T>C (p.Met54Thr)
c.2T>C (p.Met1Thr)
c.59T>C (p.Met20Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.46705857T>GCA352479135TMIEc.161T>G (p.Met54Arg)
c.2T>G (p.Met1Arg)
c.59T>G (p.Met20Arg)
3g.46705857T=CA1362233128TMIEc.161T= (p.Met54=)
c.2T= (p.Met1=)
c.59T= (p.Met20=)
3g.46705857_46705859delinsTGCCA1362233129TMIEc.161_163delinsTGC (p.Met54=)
c.2_4delinsTGC (p.Met1=)
c.59_61delinsTGC (p.Met20=)
3g.46705858G>ACA2357942TMIEc.162G>A (p.Met54Ile)
c.3G>A (p.Met1Ile)
c.60G>A (p.Met20Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705858G>CCA352479140TMIEc.162G>C (p.Met54Ile)
c.3G>C (p.Met1Ile)
c.60G>C (p.Met20Ile)
3g.46705858G=CA1362233130TMIEc.162G= (p.Met54=)
c.3G= (p.Met1=)
c.60G= (p.Met20=)
3g.46705858G>TCA352479141TMIEc.162G>T (p.Met54Ile)
c.3G>T (p.Met1Ile)
c.60G>T (p.Met20Ile)
3g.46705860_46705861delCA542720087TMIEc.164_165del (p.Arg55ProfsTer?)
c.5_6del (p.Arg2ProfsTer?)
c.62_63del (p.Arg21ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4
3g.46705859C>ACA352479142TMIEc.163C>A (p.Arg55Ser)
c.4C>A (p.Arg2Ser)
c.61C>A (p.Arg21Ser)
3g.46705859C=CA1362233131TMIEc.163C= (p.Arg55=)
c.4C= (p.Arg2=)
c.61C= (p.Arg21=)
3g.46705859C>GCA352479144TMIEc.163C>G (p.Arg55Gly)
c.4C>G (p.Arg2Gly)
c.61C>G (p.Arg21Gly)
3g.46705859C>TCA2357943TMIEc.163C>T (p.Arg55Cys)
c.4C>T (p.Arg2Cys)
c.61C>T (p.Arg21Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.46705860G>ACA2357944TMIEc.164G>A (p.Arg55His)
c.5G>A (p.Arg2His)
c.62G>A (p.Arg21His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.46705860G>CCA352479147TMIEc.164G>C (p.Arg55Pro)
c.5G>C (p.Arg2Pro)
c.62G>C (p.Arg21Pro)
3g.46705860G=CA1362233132TMIEc.164G= (p.Arg55=)
c.5G= (p.Arg2=)
c.62G= (p.Arg21=)
3g.46705860G>TCA352479148TMIEc.164G>T (p.Arg55Leu)
c.5G>T (p.Arg2Leu)
c.62G>T (p.Arg21Leu)
 gnomAD v4
3g.46705861C>ACA433458673TMIEc.165C>A (p.Arg55=)
c.6C>A (p.Arg2=)
c.63C>A (p.Arg21=)
3g.46705861C=CA1362233133TMIEc.165C= (p.Arg55=)
c.6C= (p.Arg2=)
c.63C= (p.Arg21=)
3g.46705861C>GCA433458672TMIEc.165C>G (p.Arg55=)
c.6C>G (p.Arg2=)
c.63C>G (p.Arg21=)
3g.46705861C>TCA73730337TMIEc.165C>T (p.Arg55=)
c.6C>T (p.Arg2=)
c.63C>T (p.Arg21=)
 dbSNP gnomAD v3 gnomAD v4
3g.46705862C>ACA352479151TMIEc.166C>A (p.Leu56Met)
c.7C>A (p.Leu3Met)
c.64C>A (p.Leu22Met)
3g.46705862C=CA1362233134TMIEc.166C= (p.Leu56=)
c.7C= (p.Leu3=)
c.64C= (p.Leu22=)
3g.46705862C>GCA352479153TMIEc.166C>G (p.Leu56Val)
c.7C>G (p.Leu3Val)
c.64C>G (p.Leu22Val)
3g.46705862C>TCA433458674TMIEc.166C>T (p.Leu56=)
c.7C>T (p.Leu3=)
c.64C>T (p.Leu22=)
 dbSNP gnomAD v2 gnomAD v4
3g.46705863T>ACA352479157TMIEc.167T>A (p.Leu56Gln)
c.8T>A (p.Leu3Gln)
c.65T>A (p.Leu22Gln)
3g.46705863T>CCA352479155TMIEc.167T>C (p.Leu56Pro)
c.8T>C (p.Leu3Pro)
c.65T>C (p.Leu22Pro)
 gnomAD v4
3g.46705863T>GCA352479154TMIEc.167T>G (p.Leu56Arg)
c.8T>G (p.Leu3Arg)
c.65T>G (p.Leu22Arg)
3g.46705864G>ACA433458677TMIEc.168G>A (p.Leu56=)
c.9G>A (p.Leu3=)
c.66G>A (p.Leu22=)
 dbSNP gnomAD v4
3g.46705864G>CCA433458676TMIEc.168G>C (p.Leu56=)
c.9G>C (p.Leu3=)
c.66G>C (p.Leu22=)
3g.46705864G=CA1362233135TMIEc.168G= (p.Leu56=)
c.9G= (p.Leu3=)
c.66G= (p.Leu22=)
3g.46705864G>TCA433458675TMIEc.168G>T (p.Leu56=)
c.9G>T (p.Leu3=)
c.66G>T (p.Leu22=)
 gnomAD v4
3g.46705865T>ACA352479158TMIEc.169T>A (p.Trp57Arg)
c.10T>A (p.Trp4Arg)
c.67T>A (p.Trp23Arg)
3g.46705865T>CCA352479160TMIEc.169T>C (p.Trp57Arg)
c.10T>C (p.Trp4Arg)
c.67T>C (p.Trp23Arg)
3g.46705865T>GCA352479161TMIEc.169T>G (p.Trp57Gly)
c.10T>G (p.Trp4Gly)
c.67T>G (p.Trp23Gly)
3g.46705866G>ACA252748TMIEc.170G>A (p.Trp57Ter)
c.11G>A (p.Trp4Ter)
c.68G>A (p.Trp23Ter)
 ClinVar dbSNP gnomAD v4
3g.46705866G>CCA352479164TMIEc.170G>C (p.Trp57Ser)
c.11G>C (p.Trp4Ser)
c.68G>C (p.Trp23Ser)
3g.46705866G=CA1362233136TMIEc.170G= (p.Trp57=)
c.11G= (p.Trp4=)
c.68G= (p.Trp23=)
3g.46705866G>TCA352479165TMIEc.170G>T (p.Trp57Leu)
c.11G>T (p.Trp4Leu)
c.68G>T (p.Trp23Leu)
3g.46705867G>ACA2357945TMIEc.171G>A (p.Trp57Ter)
c.12G>A (p.Trp4Ter)
c.69G>A (p.Trp23Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705867G>CCA352479167TMIEc.171G>C (p.Trp57Cys)
c.12G>C (p.Trp4Cys)
c.69G>C (p.Trp23Cys)
3g.46705867G=CA1362233137TMIEc.171G= (p.Trp57=)
c.12G= (p.Trp4=)
c.69G= (p.Trp23=)
3g.46705867G>TCA352479169TMIEc.171G>T (p.Trp57Cys)
c.12G>T (p.Trp4Cys)
c.69G>T (p.Trp23Cys)
3g.46705868C>ACA352479171TMIEc.172C>A (p.His58Asn)
c.13C>A (p.His5Asn)
c.70C>A (p.His24Asn)
3g.46705868C=CA1362233138TMIEc.172C= (p.His58=)
c.13C= (p.His5=)
c.70C= (p.His24=)
3g.46705868C>GCA352479172TMIEc.172C>G (p.His58Asp)
c.13C>G (p.His5Asp)
c.70C>G (p.His24Asp)
3g.46705868C>TCA352479174TMIEc.172C>T (p.His58Tyr)
c.13C>T (p.His5Tyr)
c.70C>T (p.His24Tyr)
 dbSNP gnomAD v2 gnomAD v4
3g.46705869A>CCA352479176TMIEc.173A>C (p.His58Pro)
c.14A>C (p.His5Pro)
c.71A>C (p.His24Pro)
3g.46705869A>GCA352479178TMIEc.173A>G (p.His58Arg)
c.14A>G (p.His5Arg)
c.71A>G (p.His24Arg)
3g.46705869A>TCA352479177TMIEc.173A>T (p.His58Leu)
c.14A>T (p.His5Leu)
c.71A>T (p.His24Leu)
3g.46705870C>ACA352479180TMIEc.174C>A (p.His58Gln)
c.15C>A (p.His5Gln)
c.72C>A (p.His24Gln)
3g.46705870C=CA1362233139TMIEc.174C= (p.His58=)
c.15C= (p.His5=)
c.72C= (p.His24=)
3g.46705870C>GCA352479182TMIEc.174C>G (p.His58Gln)
c.15C>G (p.His5Gln)
c.72C>G (p.His24Gln)
3g.46705870C>TCA178228TMIEc.174C>T (p.His58=)
c.15C>T (p.His5=)
c.72C>T (p.His24=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705871G>ACA2357946TMIEc.175G>A (p.Val59Met)
c.16G>A (p.Val6Met)
c.73G>A (p.Val25Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705871G>CCA2357947TMIEc.175G>C (p.Val59Leu)
c.16G>C (p.Val6Leu)
c.73G>C (p.Val25Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46705871G=CA1362233140TMIEc.175G= (p.Val59=)
c.16G= (p.Val6=)
c.73G= (p.Val25=)
3g.46705871G>TCA73730370TMIEc.175G>T (p.Val59Leu)
c.16G>T (p.Val6Leu)
c.73G>T (p.Val25Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.46705872T>ACA352479187TMIEc.176T>A (p.Val59Glu)
c.17T>A (p.Val6Glu)
c.74T>A (p.Val25Glu)
3g.46705872T>CCA352479191TMIEc.176T>C (p.Val59Ala)
c.17T>C (p.Val6Ala)
c.74T>C (p.Val25Ala)
 gnomAD v4
3g.46705872T>GCA352479189TMIEc.176T>G (p.Val59Gly)
c.17T>G (p.Val6Gly)
c.74T>G (p.Val25Gly)
3g.46705873G>ACA433458679TMIEc.177G>A (p.Val59=)
c.18G>A (p.Val6=)
c.75G>A (p.Val25=)
 gnomAD v4
3g.46705873G>CCA433458680TMIEc.177G>C (p.Val59=)
c.18G>C (p.Val6=)
c.75G>C (p.Val25=)
3g.46705873G>TCA433458681TMIEc.177G>T (p.Val59=)
c.18G>T (p.Val6=)
c.75G>T (p.Val25=)
3g.46705874G>ACA352479193TMIEc.178G>A (p.Val60Met)
c.19G>A (p.Val7Met)
c.76G>A (p.Val26Met)
 dbSNP gnomAD v3 gnomAD v4
3g.46705874G>CCA352479195TMIEc.178G>C (p.Val60Leu)
c.19G>C (p.Val7Leu)
c.76G>C (p.Val26Leu)
 gnomAD v4
3g.46705874G=CA1362233141TMIEc.178G= (p.Val60=)
c.19G= (p.Val7=)
c.76G= (p.Val26=)
3g.46705874G>TCA352479197TMIEc.178G>T (p.Val60Leu)
c.19G>T (p.Val7Leu)
c.76G>T (p.Val26Leu)
3g.46705875T>ACA352479199TMIEc.179T>A (p.Val60Glu)
c.20T>A (p.Val7Glu)
c.77T>A (p.Val26Glu)
3g.46705875T>CCA352479200TMIEc.179T>C (p.Val60Ala)
c.20T>C (p.Val7Ala)
c.77T>C (p.Val26Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.46705875T>GCA352479202TMIEc.179T>G (p.Val60Gly)
c.20T>G (p.Val7Gly)
c.77T>G (p.Val26Gly)
3g.46705875T=CA1362233142TMIEc.179T= (p.Val60=)
c.20T= (p.Val7=)
c.77T= (p.Val26=)
3g.46705876G>ACA433458682TMIEc.180G>A (p.Val60=)
c.21G>A (p.Val7=)
c.78G>A (p.Val26=)
 dbSNP
3g.46705876G>CCA433458683TMIEc.180G>C (p.Val60=)
c.21G>C (p.Val7=)
c.78G>C (p.Val26=)
3g.46705876G=CA1362233143TMIEc.180G= (p.Val60=)
c.21G= (p.Val7=)
c.78G= (p.Val26=)
3g.46705876G>TCA433458684TMIEc.180G>T (p.Val60=)
c.21G>T (p.Val7=)
c.78G>T (p.Val26=)
 gnomAD v4
3g.46705877G>ACA352479204TMIEc.181G>A (p.Gly61Ser)
c.22G>A (p.Gly8Ser)
c.79G>A (p.Gly27Ser)
3g.46705877G>CCA352479205TMIEc.181G>C (p.Gly61Arg)
c.22G>C (p.Gly8Arg)
c.79G>C (p.Gly27Arg)
3g.46705877G>TCA352479207TMIEc.181G>T (p.Gly61Cys)
c.22G>T (p.Gly8Cys)
c.79G>T (p.Gly27Cys)
3g.46705878G>ACA352479209TMIEc.182G>A (p.Gly61Asp)
c.23G>A (p.Gly8Asp)
c.80G>A (p.Gly27Asp)
 gnomAD v4
3g.46705878G>CCA352479211TMIEc.182G>C (p.Gly61Ala)
c.23G>C (p.Gly8Ala)
c.80G>C (p.Gly27Ala)
3g.46705878G>TCA352479213TMIEc.182G>T (p.Gly61Val)
c.23G>T (p.Gly8Val)
c.80G>T (p.Gly27Val)
3g.46705879C>ACA433458685TMIEc.183C>A (p.Gly61=)
c.24C>A (p.Gly8=)
c.81C>A (p.Gly27=)
3g.46705879C>GCA433458686TMIEc.183C>G (p.Gly61=)
c.24C>G (p.Gly8=)
c.81C>G (p.Gly27=)
3g.46705879C>TCA433458687TMIEc.183C>T (p.Gly61=)
c.24C>T (p.Gly8=)
c.81C>T (p.Gly27=)
3g.46705880A>CCA352479215TMIEc.184A>C (p.Ile62Leu)
c.25A>C (p.Ile9Leu)
c.82A>C (p.Ile28Leu)
3g.46705880A>GCA352479217TMIEc.184A>G (p.Ile62Val)
c.25A>G (p.Ile9Val)
c.82A>G (p.Ile28Val)
3g.46705880A>TCA352479216TMIEc.184A>T (p.Ile62Phe)
c.25A>T (p.Ile9Phe)
c.82A>T (p.Ile28Phe)
3g.46705881T>ACA352479220TMIEc.185T>A (p.Ile62Asn)
c.26T>A (p.Ile9Asn)
c.83T>A (p.Ile28Asn)
3g.46705881T>CCA352479222TMIEc.185T>C (p.Ile62Thr)
c.26T>C (p.Ile9Thr)
c.83T>C (p.Ile28Thr)
3g.46705881T>GCA352479223TMIEc.185T>G (p.Ile62Ser)
c.26T>G (p.Ile9Ser)
c.83T>G (p.Ile28Ser)
3g.46705882C>ACA433458688TMIEc.186C>A (p.Ile62=)
c.27C>A (p.Ile9=)
c.84C>A (p.Ile28=)
3g.46705882C>GCA352479224TMIEc.186C>G (p.Ile62Met)
c.27C>G (p.Ile9Met)
c.84C>G (p.Ile28Met)
3g.46705882C>TCA433458689TMIEc.186C>T (p.Ile62=)
c.27C>T (p.Ile9=)
c.84C>T (p.Ile28=)
 gnomAD v4
3g.46705883T>ACA352479225TMIEc.187T>A (p.Phe63Ile)
c.28T>A (p.Phe10Ile)
c.85T>A (p.Phe29Ile)
3g.46705883T>CCA352479227TMIEc.187T>C (p.Phe63Leu)
c.28T>C (p.Phe10Leu)
c.85T>C (p.Phe29Leu)
3g.46705883T>GCA352479229TMIEc.187T>G (p.Phe63Val)
c.28T>G (p.Phe10Val)
c.85T>G (p.Phe29Val)
3g.46705884T>ACA352479231TMIEc.188T>A (p.Phe63Tyr)
c.29T>A (p.Phe10Tyr)
c.86T>A (p.Phe29Tyr)
3g.46705884T>CCA352479232TMIEc.188T>C (p.Phe63Ser)
c.29T>C (p.Phe10Ser)
c.86T>C (p.Phe29Ser)
 gnomAD v4
3g.46705884T>GCA352479234TMIEc.188T>G (p.Phe63Cys)
c.29T>G (p.Phe10Cys)
c.86T>G (p.Phe29Cys)
3g.46705885T>ACA352479237TMIEc.189T>A (p.Phe63Leu)
c.30T>A (p.Phe10Leu)
c.87T>A (p.Phe29Leu)
3g.46705885T>CCA433458690TMIEc.189T>C (p.Phe63=)
c.30T>C (p.Phe10=)
c.87T>C (p.Phe29=)
3g.46705885T>GCA352479238TMIEc.189T>G (p.Phe63Leu)
c.30T>G (p.Phe10Leu)
c.87T>G (p.Phe29Leu)
3g.46705886T>ACA352479240TMIEc.190T>A (p.Ser64Thr)
c.31T>A (p.Ser11Thr)
c.88T>A (p.Ser30Thr)
3g.46705886T>CCA352479242TMIEc.190T>C (p.Ser64Pro)
c.31T>C (p.Ser11Pro)
c.88T>C (p.Ser30Pro)
3g.46705886T>GCA352479243TMIEc.190T>G (p.Ser64Ala)
c.31T>G (p.Ser11Ala)
c.88T>G (p.Ser30Ala)
3g.46705887C>ACA352479245TMIEc.191C>A (p.Ser64Ter)
c.32C>A (p.Ser11Ter)
c.89C>A (p.Ser30Ter)
 dbSNP gnomAD v2 gnomAD v4
3g.46705887C=CA1362233144TMIEc.191C= (p.Ser64=)
c.32C= (p.Ser11=)
c.89C= (p.Ser30=)
3g.46705887C>GCA352479246TMIEc.191C>G (p.Ser64Trp)
c.32C>G (p.Ser11Trp)
c.89C>G (p.Ser30Trp)
3g.46705887C>TCA178230TMIEc.191C>T (p.Ser64Leu)
c.32C>T (p.Ser11Leu)
c.89C>T (p.Ser30Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705888G>ACA2357948TMIEc.192G>A (p.Ser64=)
c.33G>A (p.Ser11=)
c.90G>A (p.Ser30=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705888G>CCA433458692TMIEc.192G>C (p.Ser64=)
c.33G>C (p.Ser11=)
c.90G>C (p.Ser30=)
3g.46705888G=CA1362233145TMIEc.192G= (p.Ser64=)
c.33G= (p.Ser11=)
c.90G= (p.Ser30=)
3g.46705888G>TCA433458691TMIEc.192G>T (p.Ser64=)
c.33G>T (p.Ser11=)
c.90G>T (p.Ser30=)
3g.46705889C>ACA352479250TMIEc.193C>A (p.Leu65Ile)
c.34C>A (p.Leu12Ile)
c.91C>A (p.Leu31Ile)
3g.46705889C>GCA352479251TMIEc.193C>G (p.Leu65Val)
c.34C>G (p.Leu12Val)
c.91C>G (p.Leu31Val)
 gnomAD v4
3g.46705889C>TCA352479253TMIEc.193C>T (p.Leu65Phe)
c.34C>T (p.Leu12Phe)
c.91C>T (p.Leu31Phe)
 gnomAD v4
3g.46705890T>ACA352479255TMIEc.194T>A (p.Leu65His)
c.35T>A (p.Leu12His)
c.92T>A (p.Leu31His)
3g.46705890T>CCA352479257TMIEc.194T>C (p.Leu65Pro)
c.35T>C (p.Leu12Pro)
c.92T>C (p.Leu31Pro)
3g.46705890T>GCA352479258TMIEc.194T>G (p.Leu65Arg)
c.35T>G (p.Leu12Arg)
c.92T>G (p.Leu31Arg)
3g.46705891C>ACA433458693TMIEc.195C>A (p.Leu65=)
c.36C>A (p.Leu12=)
c.93C>A (p.Leu31=)
3g.46705891C=CA1362233146TMIEc.195C= (p.Leu65=)
c.36C= (p.Leu12=)
c.93C= (p.Leu31=)
3g.46705891C>GCA2357949TMIEc.195C>G (p.Leu65=)
c.36C>G (p.Leu12=)
c.93C>G (p.Leu31=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46705891C>TCA433458694TMIEc.195C>T (p.Leu65=)
c.36C>T (p.Leu12=)
c.93C>T (p.Leu31=)
3g.46705892T>ACA352479261TMIEc.196T>A (p.Phe66Ile)
c.37T>A (p.Phe13Ile)
c.94T>A (p.Phe32Ile)
3g.46705892T>CCA352479262TMIEc.196T>C (p.Phe66Leu)
c.37T>C (p.Phe13Leu)
c.94T>C (p.Phe32Leu)
3g.46705892T>GCA352479263TMIEc.196T>G (p.Phe66Val)
c.37T>G (p.Phe13Val)
c.94T>G (p.Phe32Val)
3g.46705893T>ACA352479265TMIEc.197T>A (p.Phe66Tyr)
c.38T>A (p.Phe13Tyr)
c.95T>A (p.Phe32Tyr)
3g.46705893T>CCA352479266TMIEc.197T>C (p.Phe66Ser)
c.38T>C (p.Phe13Ser)
c.95T>C (p.Phe32Ser)
3g.46705893T>GCA352479267TMIEc.197T>G (p.Phe66Cys)
c.38T>G (p.Phe13Cys)
c.95T>G (p.Phe32Cys)
3g.46705894C>ACA352479268TMIEc.198C>A (p.Phe66Leu)
c.39C>A (p.Phe13Leu)
c.96C>A (p.Phe32Leu)
3g.46705894C=CA1362233147TMIEc.198C= (p.Phe66=)
c.39C= (p.Phe13=)
c.96C= (p.Phe32=)
3g.46705894C>GCA352479270TMIEc.198C>G (p.Phe66Leu)
c.39C>G (p.Phe13Leu)
c.96C>G (p.Phe32Leu)
3g.46705894C>TCA2357950TMIEc.198C>T (p.Phe66=)
c.39C>T (p.Phe13=)
c.96C>T (p.Phe32=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.46705895G>ACA2357951TMIEc.199G>A (p.Val67Met)
c.40G>A (p.Val14Met)
c.97G>A (p.Val33Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46705895G>CCA352479272TMIEc.199G>C (p.Val67Leu)
c.40G>C (p.Val14Leu)
c.97G>C (p.Val33Leu)
3g.46705895G=CA1362233148TMIEc.199G= (p.Val67=)
c.40G= (p.Val14=)
c.97G= (p.Val33=)
3g.46705895G>TCA352479274TMIEc.199G>T (p.Val67Leu)
c.40G>T (p.Val14Leu)
c.97G>T (p.Val33Leu)
3g.46705896T>ACA352479276TMIEc.200T>A (p.Val67Glu)
c.41T>A (p.Val14Glu)
c.98T>A (p.Val33Glu)
3g.46705896T>CCA352479277TMIEc.200T>C (p.Val67Ala)
c.41T>C (p.Val14Ala)
c.98T>C (p.Val33Ala)
3g.46705896T>GCA352479275TMIEc.200T>G (p.Val67Gly)
c.41T>G (p.Val14Gly)
c.98T>G (p.Val33Gly)
3g.46705897delCA2586972487TMIEc.201del (p.Leu68CysfsTer?)
c.42del (p.Leu15CysfsTer?)
c.99del (p.Leu34CysfsTer?)
3g.46705897G>ACA433458695TMIEc.201G>A (p.Val67=)
c.42G>A (p.Val14=)
c.99G>A (p.Val33=)
 dbSNP gnomAD v4
3g.46705897G>CCA433458698TMIEc.201G>C (p.Val67=)
c.42G>C (p.Val14=)
c.99G>C (p.Val33=)
3g.46705897G=CA1362233149TMIEc.201G= (p.Val67=)
c.42G= (p.Val14=)
c.99G= (p.Val33=)
3g.46705897G>TCA433458696TMIEc.201G>T (p.Val67=)
c.42G>T (p.Val14=)
c.99G>T (p.Val33=)
3g.46705898T>ACA352479281TMIEc.202T>A (p.Leu68Met)
c.43T>A (p.Leu15Met)
c.100T>A (p.Leu34Met)
 gnomAD v4
3g.46705898T>CCA433458699TMIEc.202T>C (p.Leu68=)
c.43T>C (p.Leu15=)
c.100T>C (p.Leu34=)
3g.46705898T>GCA352479279TMIEc.202T>G (p.Leu68Val)
c.43T>G (p.Leu15Val)
c.100T>G (p.Leu34Val)

Number of alleles fetched