Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.54293045_54293131delCA2619129131NFE2c.367_453del (p.Pro123_Asn151del)
c.334_420del (p.Pro112_Asn140del)
c.64_150del (p.Pro22_Asn50del)
 gnomAD v4
12g.54293068T>ACA385109208NFE2c.428A>T (p.Glu143Val)
c.395A>T (p.Glu132Val)
c.125A>T (p.Glu42Val)
12g.54293068T>CCA385109209NFE2c.428A>G (p.Glu143Gly)
c.395A>G (p.Glu132Gly)
c.125A>G (p.Glu42Gly)
12g.54293068T>GCA385109210NFE2c.428A>C (p.Glu143Ala)
c.395A>C (p.Glu132Ala)
c.125A>C (p.Glu42Ala)
12g.54293069C>ACA385109212NFE2c.427G>T (p.Glu143Ter)
c.394G>T (p.Glu132Ter)
c.124G>T (p.Glu42Ter)
 COSMIC
12g.54293069C=CA2037367877NFE2c.427G= (p.Glu143=)
c.394G= (p.Glu132=)
c.124G= (p.Glu42=)
12g.54293069C>GCA385109213NFE2c.427G>C (p.Glu143Gln)
c.394G>C (p.Glu132Gln)
c.124G>C (p.Glu42Gln)
12g.54293069C>TCA385109211NFE2c.427G>A (p.Glu143Lys)
c.394G>A (p.Glu132Lys)
c.124G>A (p.Glu42Lys)
 dbSNP gnomAD v3 gnomAD v4
12g.54293070T>ACA480094428NFE2c.426A>T (p.Pro142=)
c.393A>T (p.Pro131=)
c.123A>T (p.Pro41=)
12g.54293070T>CCA480094429NFE2c.426A>G (p.Pro142=)
c.393A>G (p.Pro131=)
c.123A>G (p.Pro41=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.54293070T>GCA480094431NFE2c.426A>C (p.Pro142=)
c.393A>C (p.Pro131=)
c.123A>C (p.Pro41=)
12g.54293070T=CA2037367878NFE2c.426A= (p.Pro142=)
c.393A= (p.Pro131=)
c.123A= (p.Pro41=)
12g.54293071G>ACA6606584NFE2c.425C>T (p.Pro142Leu)
c.392C>T (p.Pro131Leu)
c.122C>T (p.Pro41Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293071G>CCA385109214NFE2c.425C>G (p.Pro142Arg)
c.392C>G (p.Pro131Arg)
c.122C>G (p.Pro41Arg)
12g.54293071G=CA2037367879NFE2c.425C= (p.Pro142=)
c.392C= (p.Pro131=)
c.122C= (p.Pro41=)
12g.54293071G>TCA385109215NFE2c.425C>A (p.Pro142Gln)
c.392C>A (p.Pro131Gln)
c.122C>A (p.Pro41Gln)
12g.54293072G>ACA385109216NFE2c.424C>T (p.Pro142Ser)
c.391C>T (p.Pro131Ser)
c.121C>T (p.Pro41Ser)
 dbSNP
12g.54293072G>CCA385109217NFE2c.424C>G (p.Pro142Ala)
c.391C>G (p.Pro131Ala)
c.121C>G (p.Pro41Ala)
12g.54293072G=CA2037367880NFE2c.424C= (p.Pro142=)
c.391C= (p.Pro131=)
c.121C= (p.Pro41=)
12g.54293072G>TCA385109218NFE2c.424C>A (p.Pro142Thr)
c.391C>A (p.Pro131Thr)
c.121C>A (p.Pro41Thr)
 gnomAD v4
12g.54293073G>ACA480094438NFE2c.423C>T (p.Asp141=)
c.390C>T (p.Asp130=)
c.120C>T (p.Asp40=)
 gnomAD v4
12g.54293073G>CCA385109219NFE2c.423C>G (p.Asp141Glu)
c.390C>G (p.Asp130Glu)
c.120C>G (p.Asp40Glu)
12g.54293073G>TCA385109220NFE2c.423C>A (p.Asp141Glu)
c.390C>A (p.Asp130Glu)
c.120C>A (p.Asp40Glu)
12g.54293074T>ACA237415231NFE2c.422A>T (p.Asp141Val)
c.389A>T (p.Asp130Val)
c.119A>T (p.Asp40Val)
 dbSNP
12g.54293074T>CCA385109221NFE2c.422A>G (p.Asp141Gly)
c.389A>G (p.Asp130Gly)
c.119A>G (p.Asp40Gly)
12g.54293074T>GCA385109222NFE2c.422A>C (p.Asp141Ala)
c.389A>C (p.Asp130Ala)
c.119A>C (p.Asp40Ala)
12g.54293074T=CA2037367881NFE2c.422A= (p.Asp141=)
c.389A= (p.Asp130=)
c.119A= (p.Asp40=)
12g.54293075C>ACA385109223NFE2c.421G>T (p.Asp141Tyr)
c.388G>T (p.Asp130Tyr)
c.118G>T (p.Asp40Tyr)
 gnomAD v4
12g.54293075C>GCA385109224NFE2c.421G>C (p.Asp141His)
c.388G>C (p.Asp130His)
c.118G>C (p.Asp40His)
12g.54293075C>TCA385109225NFE2c.421G>A (p.Asp141Asn)
c.388G>A (p.Asp130Asn)
c.118G>A (p.Asp40Asn)
12g.54293076T>ACA385109227NFE2c.420A>T (p.Glu140Asp)
c.387A>T (p.Glu129Asp)
c.117A>T (p.Glu39Asp)
12g.54293076T>CCA480094450NFE2c.420A>G (p.Glu140=)
c.387A>G (p.Glu129=)
c.117A>G (p.Glu39=)
12g.54293076T>GCA385109226NFE2c.420A>C (p.Glu140Asp)
c.387A>C (p.Glu129Asp)
c.117A>C (p.Glu39Asp)
 dbSNP
12g.54293076T=CA2037367882NFE2c.420A= (p.Glu140=)
c.387A= (p.Glu129=)
c.117A= (p.Glu39=)
12g.54293077T>ACA385109228NFE2c.419A>T (p.Glu140Val)
c.386A>T (p.Glu129Val)
c.116A>T (p.Glu39Val)
12g.54293077T>CCA385109229NFE2c.419A>G (p.Glu140Gly)
c.386A>G (p.Glu129Gly)
c.116A>G (p.Glu39Gly)
12g.54293077T>GCA385109230NFE2c.419A>C (p.Glu140Ala)
c.386A>C (p.Glu129Ala)
c.116A>C (p.Glu39Ala)
12g.54293078C>ACA385109231NFE2c.418G>T (p.Glu140Ter)
c.385G>T (p.Glu129Ter)
c.115G>T (p.Glu39Ter)
12g.54293078C>GCA385109232NFE2c.418G>C (p.Glu140Gln)
c.385G>C (p.Glu129Gln)
c.115G>C (p.Glu39Gln)
12g.54293078C>TCA385109233NFE2c.418G>A (p.Glu140Lys)
c.385G>A (p.Glu129Lys)
c.115G>A (p.Glu39Lys)
12g.54293079T>ACA385109235NFE2c.417A>T (p.Gln139His)
c.384A>T (p.Gln128His)
c.114A>T (p.Gln38His)
12g.54293079T>CCA6606585NFE2c.417A>G (p.Gln139=)
c.384A>G (p.Gln128=)
c.114A>G (p.Gln38=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293079T>GCA385109234NFE2c.417A>C (p.Gln139His)
c.384A>C (p.Gln128His)
c.114A>C (p.Gln38His)
12g.54293079T=CA2037367883NFE2c.417A= (p.Gln139=)
c.384A= (p.Gln128=)
c.114A= (p.Gln38=)
12g.54293080T>ACA385109236NFE2c.416A>T (p.Gln139Leu)
c.383A>T (p.Gln128Leu)
c.113A>T (p.Gln38Leu)
12g.54293080T>CCA385109237NFE2c.416A>G (p.Gln139Arg)
c.383A>G (p.Gln128Arg)
c.113A>G (p.Gln38Arg)
 gnomAD v4
12g.54293080T>GCA385109238NFE2c.416A>C (p.Gln139Pro)
c.383A>C (p.Gln128Pro)
c.113A>C (p.Gln38Pro)
12g.54293080_54293081delinsTGCA2037367884NFE2c.415_416delinsCA (p.Gln139=)
c.382_383delinsCA (p.Gln128=)
c.112_113delinsCA (p.Gln38=)
12g.54293081G>ACA385109239NFE2c.415C>T (p.Gln139Ter)
c.382C>T (p.Gln128Ter)
c.112C>T (p.Gln38Ter)
 COSMIC
12g.54293081G>CCA385109240NFE2c.415C>G (p.Gln139Glu)
c.382C>G (p.Gln128Glu)
c.112C>G (p.Gln38Glu)
12g.54293081G>TCA385109241NFE2c.415C>A (p.Gln139Lys)
c.382C>A (p.Gln128Lys)
c.112C>A (p.Gln38Lys)
 gnomAD v4
12g.54293084delCA919092029NFE2c.415del (p.Gln139LysfsTer?)
c.382del (p.Gln128LysfsTer?)
c.112del (p.Gln38LysfsTer?)
 dbSNP
12g.54293082G>ACA480094473NFE2c.414C>T (p.Pro138=)
c.381C>T (p.Pro127=)
c.111C>T (p.Pro37=)
 COSMIC
12g.54293082G>CCA480094475NFE2c.414C>G (p.Pro138=)
c.381C>G (p.Pro127=)
c.111C>G (p.Pro37=)
12g.54293082G>TCA480094477NFE2c.414C>A (p.Pro138=)
c.381C>A (p.Pro127=)
c.111C>A (p.Pro37=)
12g.54293083G>ACA6606586NFE2c.413C>T (p.Pro138Leu)
c.380C>T (p.Pro127Leu)
c.110C>T (p.Pro37Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293083G>CCA385109242NFE2c.413C>G (p.Pro138Arg)
c.380C>G (p.Pro127Arg)
c.110C>G (p.Pro37Arg)
 gnomAD v4
12g.54293083G=CA2037367885NFE2c.413C= (p.Pro138=)
c.380C= (p.Pro127=)
c.110C= (p.Pro37=)
12g.54293083G>TCA385109243NFE2c.413C>A (p.Pro138His)
c.380C>A (p.Pro127His)
c.110C>A (p.Pro37His)
 gnomAD v4
12g.54293084G>ACA385109244NFE2c.412C>T (p.Pro138Ser)
c.379C>T (p.Pro127Ser)
c.109C>T (p.Pro37Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.54293084G>CCA385109245NFE2c.412C>G (p.Pro138Ala)
c.379C>G (p.Pro127Ala)
c.109C>G (p.Pro37Ala)
12g.54293084G=CA2037367886NFE2c.412C= (p.Pro138=)
c.379C= (p.Pro127=)
c.109C= (p.Pro37=)
12g.54293084G>TCA385109246NFE2c.412C>A (p.Pro138Thr)
c.379C>A (p.Pro127Thr)
c.109C>A (p.Pro37Thr)
12g.54293085C>ACA385109247NFE2c.411G>T (p.Lys137Asn)
c.378G>T (p.Lys126Asn)
c.108G>T (p.Lys36Asn)
 gnomAD v4
12g.54293085C>GCA385109248NFE2c.411G>C (p.Lys137Asn)
c.378G>C (p.Lys126Asn)
c.108G>C (p.Lys36Asn)
12g.54293085C>TCA480094487NFE2c.411G>A (p.Lys137=)
c.378G>A (p.Lys126=)
c.108G>A (p.Lys36=)
12g.54293086T>ACA385109250NFE2c.410A>T (p.Lys137Met)
c.377A>T (p.Lys126Met)
c.107A>T (p.Lys36Met)
12g.54293086T>CCA385109249NFE2c.410A>G (p.Lys137Arg)
c.377A>G (p.Lys126Arg)
c.107A>G (p.Lys36Arg)
12g.54293086T>GCA6606587NFE2c.410A>C (p.Lys137Thr)
c.377A>C (p.Lys126Thr)
c.107A>C (p.Lys36Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293086T=CA2037367887NFE2c.410A= (p.Lys137=)
c.377A= (p.Lys126=)
c.107A= (p.Lys36=)
12g.54293087T>ACA385109251NFE2c.409A>T (p.Lys137Ter)
c.376A>T (p.Lys126Ter)
c.106A>T (p.Lys36Ter)
12g.54293087T>CCA385109252NFE2c.409A>G (p.Lys137Glu)
c.376A>G (p.Lys126Glu)
c.106A>G (p.Lys36Glu)
 dbSNP gnomAD v4
12g.54293087T>GCA385109253NFE2c.409A>C (p.Lys137Gln)
c.376A>C (p.Lys126Gln)
c.106A>C (p.Lys36Gln)
12g.54293087T=CA2037367888NFE2c.409A= (p.Lys137=)
c.376A= (p.Lys126=)
c.106A= (p.Lys36=)
12g.54293088A>CCA480094501NFE2c.408T>G (p.Pro136=)
c.375T>G (p.Pro125=)
c.105T>G (p.Pro35=)
12g.54293088A>GCA480094502NFE2c.408T>C (p.Pro136=)
c.375T>C (p.Pro125=)
c.105T>C (p.Pro35=)
12g.54293088A>TCA480094506NFE2c.408T>A (p.Pro136=)
c.375T>A (p.Pro125=)
c.105T>A (p.Pro35=)
 COSMIC
12g.54293089G>ACA385109254NFE2c.407C>T (p.Pro136Leu)
c.374C>T (p.Pro125Leu)
c.104C>T (p.Pro35Leu)
12g.54293089G>CCA385109255NFE2c.407C>G (p.Pro136Arg)
c.374C>G (p.Pro125Arg)
c.104C>G (p.Pro35Arg)
12g.54293089G>TCA385109256NFE2c.407C>A (p.Pro136His)
c.374C>A (p.Pro125His)
c.104C>A (p.Pro35His)
12g.54293090G>ACA385109257NFE2c.406C>T (p.Pro136Ser)
c.373C>T (p.Pro125Ser)
c.103C>T (p.Pro35Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.54293090G>CCA385109259NFE2c.406C>G (p.Pro136Ala)
c.373C>G (p.Pro125Ala)
c.103C>G (p.Pro35Ala)
12g.54293090G=CA2037367889NFE2c.406C= (p.Pro136=)
c.373C= (p.Pro125=)
c.103C= (p.Pro35=)
12g.54293090G>TCA385109258NFE2c.406C>A (p.Pro136Thr)
c.373C>A (p.Pro125Thr)
c.103C>A (p.Pro35Thr)
12g.54293090_54293099delCA645593836NFE2c.397_406del (p.Ala133LeufsTer?)
c.364_373del (p.Ala122LeufsTer?)
c.94_103del (p.Ala32LeufsTer?)
 COSMIC
12g.54293091T>ACA480094514NFE2c.405A>T (p.Pro135=)
c.372A>T (p.Pro124=)
c.102A>T (p.Pro34=)
12g.54293091T>CCA480094517NFE2c.405A>G (p.Pro135=)
c.372A>G (p.Pro124=)
c.102A>G (p.Pro34=)
12g.54293091T>GCA480094518NFE2c.405A>C (p.Pro135=)
c.372A>C (p.Pro124=)
c.102A>C (p.Pro34=)
12g.54293092G>ACA6606588NFE2c.404C>T (p.Pro135Leu)
c.371C>T (p.Pro124Leu)
c.101C>T (p.Pro34Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293092G>CCA385109260NFE2c.404C>G (p.Pro135Arg)
c.371C>G (p.Pro124Arg)
c.101C>G (p.Pro34Arg)
12g.54293092G=CA2037367890NFE2c.404C= (p.Pro135=)
c.371C= (p.Pro124=)
c.101C= (p.Pro34=)
12g.54293092G>TCA385109261NFE2c.404C>A (p.Pro135Gln)
c.371C>A (p.Pro124Gln)
c.101C>A (p.Pro34Gln)
12g.54293093G>ACA385109262NFE2c.403C>T (p.Pro135Ser)
c.370C>T (p.Pro124Ser)
c.100C>T (p.Pro34Ser)
 gnomAD v4
12g.54293093G>CCA385109263NFE2c.403C>G (p.Pro135Ala)
c.370C>G (p.Pro124Ala)
c.100C>G (p.Pro34Ala)
12g.54293093G>TCA385109264NFE2c.403C>A (p.Pro135Thr)
c.370C>A (p.Pro124Thr)
c.100C>A (p.Pro34Thr)
12g.54293094C>ACA480094529NFE2c.402G>T (p.Gly134=)
c.369G>T (p.Gly123=)
c.99G>T (p.Gly33=)
 gnomAD v4
12g.54293094C>GCA480094531NFE2c.402G>C (p.Gly134=)
c.369G>C (p.Gly123=)
c.99G>C (p.Gly33=)
12g.54293094C>TCA480094539NFE2c.402G>A (p.Gly134=)
c.369G>A (p.Gly123=)
c.99G>A (p.Gly33=)
 gnomAD v4
12g.54293095C>ACA385109267NFE2c.401G>T (p.Gly134Val)
c.368G>T (p.Gly123Val)
c.98G>T (p.Gly33Val)
 gnomAD v4
12g.54293095C>GCA385109266NFE2c.401G>C (p.Gly134Ala)
c.368G>C (p.Gly123Ala)
c.98G>C (p.Gly33Ala)
12g.54293095C>TCA385109265NFE2c.401G>A (p.Gly134Glu)
c.368G>A (p.Gly123Glu)
c.98G>A (p.Gly33Glu)
12g.54293096C>ACA385109268NFE2c.400G>T (p.Gly134Trp)
c.367G>T (p.Gly123Trp)
c.97G>T (p.Gly33Trp)
 gnomAD v4
12g.54293096C>GCA385109269NFE2c.400G>C (p.Gly134Arg)
c.367G>C (p.Gly123Arg)
c.97G>C (p.Gly33Arg)
12g.54293096C>TCA385109270NFE2c.400G>A (p.Gly134Arg)
c.367G>A (p.Gly123Arg)
c.97G>A (p.Gly33Arg)
 gnomAD v4
12g.54293097T>ACA480094548NFE2c.399A>T (p.Ala133=)
c.366A>T (p.Ala122=)
c.96A>T (p.Ala32=)
12g.54293097T>CCA480094547NFE2c.399A>G (p.Ala133=)
c.366A>G (p.Ala122=)
c.96A>G (p.Ala32=)
12g.54293097T>GCA480094544NFE2c.399A>C (p.Ala133=)
c.366A>C (p.Ala122=)
c.96A>C (p.Ala32=)
12g.54293098G>ACA385109271NFE2c.398C>T (p.Ala133Val)
c.365C>T (p.Ala122Val)
c.95C>T (p.Ala32Val)
 gnomAD v4
12g.54293098G>CCA385109272NFE2c.398C>G (p.Ala133Gly)
c.365C>G (p.Ala122Gly)
c.95C>G (p.Ala32Gly)
12g.54293098G>TCA385109273NFE2c.398C>A (p.Ala133Glu)
c.365C>A (p.Ala122Glu)
c.95C>A (p.Ala32Glu)
12g.54293099C>ACA385109274NFE2c.397G>T (p.Ala133Ser)
c.364G>T (p.Ala122Ser)
c.94G>T (p.Ala32Ser)
12g.54293099C>GCA385109276NFE2c.397G>C (p.Ala133Pro)
c.364G>C (p.Ala122Pro)
c.94G>C (p.Ala32Pro)
12g.54293099C>TCA385109275NFE2c.397G>A (p.Ala133Thr)
c.364G>A (p.Ala122Thr)
c.94G>A (p.Ala32Thr)
 gnomAD v4
12g.54293100T>ACA480094564NFE2c.396A>T (p.Pro132=)
c.363A>T (p.Pro121=)
c.93A>T (p.Pro31=)
12g.54293100T>CCA480094561NFE2c.396A>G (p.Pro132=)
c.363A>G (p.Pro121=)
c.93A>G (p.Pro31=)
 gnomAD v4
12g.54293100T>GCA480094560NFE2c.396A>C (p.Pro132=)
c.363A>C (p.Pro121=)
c.93A>C (p.Pro31=)
12g.54293101G>ACA385109277NFE2c.395C>T (p.Pro132Leu)
c.362C>T (p.Pro121Leu)
c.92C>T (p.Pro31Leu)
12g.54293101G>CCA385109278NFE2c.395C>G (p.Pro132Arg)
c.362C>G (p.Pro121Arg)
c.92C>G (p.Pro31Arg)
12g.54293101G>TCA385109279NFE2c.395C>A (p.Pro132Gln)
c.362C>A (p.Pro121Gln)
c.92C>A (p.Pro31Gln)
 gnomAD v4
12g.54293102_54293103insACATTGGGCA2796050821NFE2c.395_396insCAATGTCC (p.Ala133AsnfsTer?)
c.362_363insCAATGTCC (p.Ala122AsnfsTer?)
c.92_93insCAATGTCC (p.Ala32AsnfsTer?)
12g.54293102G>ACA385109280NFE2c.394C>T (p.Pro132Ser)
c.361C>T (p.Pro121Ser)
c.91C>T (p.Pro31Ser)
 gnomAD v4
12g.54293102G>CCA385109281NFE2c.394C>G (p.Pro132Ala)
c.361C>G (p.Pro121Ala)
c.91C>G (p.Pro31Ala)
12g.54293102G>TCA385109282NFE2c.394C>A (p.Pro132Thr)
c.361C>A (p.Pro121Thr)
c.91C>A (p.Pro31Thr)
12g.54293103C>ACA480094580NFE2c.393G>T (p.Leu131=)
c.360G>T (p.Leu120=)
c.90G>T (p.Leu30=)
12g.54293103C>GCA480094589NFE2c.393G>C (p.Leu131=)
c.360G>C (p.Leu120=)
c.90G>C (p.Leu30=)
12g.54293103C>TCA480094582NFE2c.393G>A (p.Leu131=)
c.360G>A (p.Leu120=)
c.90G>A (p.Leu30=)
 gnomAD v4
12g.54293104A=CA2037367891NFE2c.392T= (p.Leu131=)
c.359T= (p.Leu120=)
c.89T= (p.Leu30=)
12g.54293104A>CCA385109283NFE2c.392T>G (p.Leu131Arg)
c.359T>G (p.Leu120Arg)
c.89T>G (p.Leu30Arg)
12g.54293104A>GCA385109284NFE2c.392T>C (p.Leu131Pro)
c.359T>C (p.Leu120Pro)
c.89T>C (p.Leu30Pro)
 dbSNP
12g.54293104A>TCA385109285NFE2c.392T>A (p.Leu131Gln)
c.359T>A (p.Leu120Gln)
c.89T>A (p.Leu30Gln)
12g.54293105G>ACA480094594NFE2c.391C>T (p.Leu131=)
c.358C>T (p.Leu120=)
c.88C>T (p.Leu30=)
12g.54293105G>CCA385109286NFE2c.391C>G (p.Leu131Val)
c.358C>G (p.Leu120Val)
c.88C>G (p.Leu30Val)
12g.54293105G>TCA385109287NFE2c.391C>A (p.Leu131Met)
c.358C>A (p.Leu120Met)
c.88C>A (p.Leu30Met)
 gnomAD v4
12g.54293106C>ACA480094599NFE2c.390G>T (p.Gly130=)
c.357G>T (p.Gly119=)
c.87G>T (p.Gly29=)
12g.54293106C>GCA480094601NFE2c.390G>C (p.Gly130=)
c.357G>C (p.Gly119=)
c.87G>C (p.Gly29=)
12g.54293106C>TCA480094608NFE2c.390G>A (p.Gly130=)
c.357G>A (p.Gly119=)
c.87G>A (p.Gly29=)
 gnomAD v4
12g.54293107C>ACA385109288NFE2c.389G>T (p.Gly130Val)
c.356G>T (p.Gly119Val)
c.86G>T (p.Gly29Val)
 gnomAD v4
12g.54293107C=CA2037367892NFE2c.389G= (p.Gly130=)
c.356G= (p.Gly119=)
c.86G= (p.Gly29=)
12g.54293107C>GCA385109290NFE2c.389G>C (p.Gly130Ala)
c.356G>C (p.Gly119Ala)
c.86G>C (p.Gly29Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.54293107C>TCA385109289NFE2c.389G>A (p.Gly130Glu)
c.356G>A (p.Gly119Glu)
c.86G>A (p.Gly29Glu)
 gnomAD v4
12g.54293108C>ACA385109291NFE2c.388G>T (p.Gly130Trp)
c.355G>T (p.Gly119Trp)
c.85G>T (p.Gly29Trp)
12g.54293108C>GCA385109293NFE2c.388G>C (p.Gly130Arg)
c.355G>C (p.Gly119Arg)
c.85G>C (p.Gly29Arg)
12g.54293108C>TCA385109292NFE2c.388G>A (p.Gly130Arg)
c.355G>A (p.Gly119Arg)
c.85G>A (p.Gly29Arg)
12g.54293109A=CA2037367893NFE2c.387T= (p.Ile129=)
c.354T= (p.Ile118=)
c.84T= (p.Ile28=)
12g.54293109A>CCA385109294NFE2c.387T>G (p.Ile129Met)
c.354T>G (p.Ile118Met)
c.84T>G (p.Ile28Met)
12g.54293109A>GCA6606589NFE2c.387T>C (p.Ile129=)
c.354T>C (p.Ile118=)
c.84T>C (p.Ile28=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293109A>TCA480094629NFE2c.387T>A (p.Ile129=)
c.354T>A (p.Ile118=)
c.84T>A (p.Ile28=)
12g.54293110A=CA2037367894NFE2c.386T= (p.Ile129=)
c.353T= (p.Ile118=)
c.83T= (p.Ile28=)
12g.54293110A>CCA385109295NFE2c.386T>G (p.Ile129Ser)
c.353T>G (p.Ile118Ser)
c.83T>G (p.Ile28Ser)
 gnomAD v4
12g.54293110A>GCA385109296NFE2c.386T>C (p.Ile129Thr)
c.353T>C (p.Ile118Thr)
c.83T>C (p.Ile28Thr)
 dbSNP gnomAD v4
12g.54293110A>TCA385109297NFE2c.386T>A (p.Ile129Asn)
c.353T>A (p.Ile118Asn)
c.83T>A (p.Ile28Asn)
 dbSNP gnomAD v3 gnomAD v4
12g.54293111T>ACA6606590NFE2c.385A>T (p.Ile129Phe)
c.352A>T (p.Ile118Phe)
c.82A>T (p.Ile28Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293111T>CCA385109298NFE2c.385A>G (p.Ile129Val)
c.352A>G (p.Ile118Val)
c.82A>G (p.Ile28Val)
 gnomAD v4
12g.54293111T>GCA385109299NFE2c.385A>C (p.Ile129Leu)
c.352A>C (p.Ile118Leu)
c.82A>C (p.Ile28Leu)
12g.54293111T=CA2037367895NFE2c.385A= (p.Ile129=)
c.352A= (p.Ile118=)
c.82A= (p.Ile28=)
12g.54293112G>ACA480094639NFE2c.384C>T (p.Asp128=)
c.351C>T (p.Asp117=)
c.81C>T (p.Asp27=)
12g.54293112G>CCA385109300NFE2c.384C>G (p.Asp128Glu)
c.351C>G (p.Asp117Glu)
c.81C>G (p.Asp27Glu)
12g.54293112G>TCA385109301NFE2c.384C>A (p.Asp128Glu)
c.351C>A (p.Asp117Glu)
c.81C>A (p.Asp27Glu)
 gnomAD v4
12g.54293113T>ACA385109302NFE2c.383A>T (p.Asp128Val)
c.350A>T (p.Asp117Val)
c.80A>T (p.Asp27Val)
12g.54293113T>CCA385109303NFE2c.383A>G (p.Asp128Gly)
c.350A>G (p.Asp117Gly)
c.80A>G (p.Asp27Gly)
12g.54293113T>GCA385109304NFE2c.383A>C (p.Asp128Ala)
c.350A>C (p.Asp117Ala)
c.80A>C (p.Asp27Ala)
12g.54293114C>ACA385109305NFE2c.382G>T (p.Asp128Tyr)
c.349G>T (p.Asp117Tyr)
c.79G>T (p.Asp27Tyr)
12g.54293114C>GCA385109307NFE2c.382G>C (p.Asp128His)
c.349G>C (p.Asp117His)
c.79G>C (p.Asp27His)
 gnomAD v4
12g.54293114C>TCA385109306NFE2c.382G>A (p.Asp128Asn)
c.349G>A (p.Asp117Asn)
c.79G>A (p.Asp27Asn)
12g.54293115C>ACA480094659NFE2c.381G>T (p.Leu127=)
c.348G>T (p.Leu116=)
c.78G>T (p.Leu26=)
12g.54293115C>GCA480094664NFE2c.381G>C (p.Leu127=)
c.348G>C (p.Leu116=)
c.78G>C (p.Leu26=)
12g.54293115C>TCA480094665NFE2c.381G>A (p.Leu127=)
c.348G>A (p.Leu116=)
c.78G>A (p.Leu26=)
12g.54293116A>CCA385109308NFE2c.380T>G (p.Leu127Arg)
c.347T>G (p.Leu116Arg)
c.77T>G (p.Leu26Arg)
12g.54293116A>GCA385109309NFE2c.380T>C (p.Leu127Pro)
c.347T>C (p.Leu116Pro)
c.77T>C (p.Leu26Pro)
 gnomAD v4
12g.54293116A>TCA385109310NFE2c.380T>A (p.Leu127Gln)
c.347T>A (p.Leu116Gln)
c.77T>A (p.Leu26Gln)
12g.54293117G>ACA480094673NFE2c.379C>T (p.Leu127=)
c.346C>T (p.Leu116=)
c.76C>T (p.Leu26=)
 gnomAD v4
12g.54293117G>CCA385109311NFE2c.379C>G (p.Leu127Val)
c.346C>G (p.Leu116Val)
c.76C>G (p.Leu26Val)
12g.54293117G>TCA385109312NFE2c.379C>A (p.Leu127Met)
c.346C>A (p.Leu116Met)
c.76C>A (p.Leu26Met)
 gnomAD v4
12g.54293118G>ACA480094683NFE2c.378C>T (p.Leu126=)
c.345C>T (p.Leu115=)
c.75C>T (p.Leu25=)
12g.54293118G>CCA480094684NFE2c.378C>G (p.Leu126=)
c.345C>G (p.Leu115=)
c.75C>G (p.Leu25=)
12g.54293118G>TCA480094686NFE2c.378C>A (p.Leu126=)
c.345C>A (p.Leu115=)
c.75C>A (p.Leu25=)
12g.54293119A>CCA385109313NFE2c.377T>G (p.Leu126Arg)
c.344T>G (p.Leu115Arg)
c.74T>G (p.Leu25Arg)
12g.54293119A>GCA385109314NFE2c.377T>C (p.Leu126Pro)
c.344T>C (p.Leu115Pro)
c.74T>C (p.Leu25Pro)
12g.54293119A>TCA385109315NFE2c.377T>A (p.Leu126His)
c.344T>A (p.Leu115His)
c.74T>A (p.Leu25His)
12g.54293120G>ACA237415274NFE2c.376C>T (p.Leu126Phe)
c.343C>T (p.Leu115Phe)
c.73C>T (p.Leu25Phe)
 dbSNP
12g.54293120G>CCA385109316NFE2c.376C>G (p.Leu126Val)
c.343C>G (p.Leu115Val)
c.73C>G (p.Leu25Val)
 gnomAD v4
12g.54293120G=CA2037367896NFE2c.376C= (p.Leu126=)
c.343C= (p.Leu115=)
c.73C= (p.Leu25=)
12g.54293120G>TCA385109317NFE2c.376C>A (p.Leu126Ile)
c.343C>A (p.Leu115Ile)
c.73C>A (p.Leu25Ile)
12g.54293121G>ACA6606591NFE2c.375C>T (p.Ala125=)
c.342C>T (p.Ala114=)
c.72C>T (p.Ala24=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293121G>CCA480094702NFE2c.375C>G (p.Ala125=)
c.342C>G (p.Ala114=)
c.72C>G (p.Ala24=)
12g.54293121G=CA2037367897NFE2c.375C= (p.Ala125=)
c.342C= (p.Ala114=)
c.72C= (p.Ala24=)
12g.54293121G>TCA480094704NFE2c.375C>A (p.Ala125=)
c.342C>A (p.Ala114=)
c.72C>A (p.Ala24=)
 gnomAD v4
12g.54293121_54293122delinsAACA645593837NFE2c.374_375delinsTT (p.Ala125Val)
c.341_342delinsTT (p.Ala114Val)
c.71_72delinsTT (p.Ala24Val)
 COSMIC
12g.54293122G>ACA385109320NFE2c.374C>T (p.Ala125Val)
c.341C>T (p.Ala114Val)
c.71C>T (p.Ala24Val)
12g.54293122G>CCA385109318NFE2c.374C>G (p.Ala125Gly)
c.341C>G (p.Ala114Gly)
c.71C>G (p.Ala24Gly)
 gnomAD v4
12g.54293122G>TCA385109319NFE2c.374C>A (p.Ala125Asp)
c.341C>A (p.Ala114Asp)
c.71C>A (p.Ala24Asp)
 gnomAD v4
12g.54293123C>ACA385109321NFE2c.373G>T (p.Ala125Ser)
c.340G>T (p.Ala114Ser)
c.70G>T (p.Ala24Ser)
12g.54293123C>GCA385109322NFE2c.373G>C (p.Ala125Pro)
c.340G>C (p.Ala114Pro)
c.70G>C (p.Ala24Pro)
12g.54293123C>TCA385109323NFE2c.373G>A (p.Ala125Thr)
c.340G>A (p.Ala114Thr)
c.70G>A (p.Ala24Thr)
12g.54293124T>ACA385109324NFE2c.372A>T (p.Leu124Phe)
c.339A>T (p.Leu113Phe)
c.69A>T (p.Leu23Phe)
12g.54293124T>CCA480094712NFE2c.372A>G (p.Leu124=)
c.339A>G (p.Leu113=)
c.69A>G (p.Leu23=)
 gnomAD v4
12g.54293124T>GCA385109325NFE2c.372A>C (p.Leu124Phe)
c.339A>C (p.Leu113Phe)
c.69A>C (p.Leu23Phe)
12g.54293125A=CA2037367898NFE2c.371T= (p.Leu124=)
c.338T= (p.Leu113=)
c.68T= (p.Leu23=)
12g.54293125A>CCA385109326NFE2c.371T>G (p.Leu124Ter)
c.338T>G (p.Leu113Ter)
c.68T>G (p.Leu23Ter)
12g.54293125A>GCA6606592NFE2c.371T>C (p.Leu124Ser)
c.338T>C (p.Leu113Ser)
c.68T>C (p.Leu23Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293125A>TCA385109327NFE2c.371T>A (p.Leu124Ter)
c.338T>A (p.Leu113Ter)
c.68T>A (p.Leu23Ter)
12g.54293126A=CA2037367899NFE2c.370T= (p.Leu124=)
c.337T= (p.Leu113=)
c.67T= (p.Leu23=)
12g.54293126A>CCA385109328NFE2c.370T>G (p.Leu124Val)
c.337T>G (p.Leu113Val)
c.67T>G (p.Leu23Val)
 dbSNP gnomAD v4
12g.54293126A>GCA480094726NFE2c.370T>C (p.Leu124=)
c.337T>C (p.Leu113=)
c.67T>C (p.Leu23=)
 gnomAD v4
12g.54293126A>TCA385109329NFE2c.370T>A (p.Leu124Ile)
c.337T>A (p.Leu113Ile)
c.67T>A (p.Leu23Ile)
12g.54293127G>ACA480094730NFE2c.369C>T (p.Pro123=)
c.336C>T (p.Pro112=)
c.66C>T (p.Pro22=)
12g.54293127G>CCA480094732NFE2c.369C>G (p.Pro123=)
c.336C>G (p.Pro112=)
c.66C>G (p.Pro22=)
12g.54293127G>TCA480094734NFE2c.369C>A (p.Pro123=)
c.336C>A (p.Pro112=)
c.66C>A (p.Pro22=)
12g.54293130delCA645593838NFE2c.369del (p.Leu124Ter)
c.336del (p.Leu113Ter)
c.66del (p.Leu23Ter)
 COSMIC
12g.54293128G>ACA385109331NFE2c.368C>T (p.Pro123Leu)
c.335C>T (p.Pro112Leu)
c.65C>T (p.Pro22Leu)
 gnomAD v4
12g.54293128G>CCA385109332NFE2c.368C>G (p.Pro123Arg)
c.335C>G (p.Pro112Arg)
c.65C>G (p.Pro22Arg)
 gnomAD v4
12g.54293128G>TCA385109330NFE2c.368C>A (p.Pro123His)
c.335C>A (p.Pro112His)
c.65C>A (p.Pro22His)
12g.54293129G>ACA385109333NFE2c.367C>T (p.Pro123Ser)
c.334C>T (p.Pro112Ser)
c.64C>T (p.Pro22Ser)
 gnomAD v4
12g.54293129G>CCA385109334NFE2c.367C>G (p.Pro123Ala)
c.334C>G (p.Pro112Ala)
c.64C>G (p.Pro22Ala)
12g.54293129G>TCA385109335NFE2c.367C>A (p.Pro123Thr)
c.334C>A (p.Pro112Thr)
c.64C>A (p.Pro22Thr)
12g.54293130G>ACA480094754NFE2c.366C>T (p.Asp122=)
c.333C>T (p.Asp111=)
c.63C>T (p.Asp21=)
12g.54293130G>CCA385109336NFE2c.366C>G (p.Asp122Glu)
c.333C>G (p.Asp111Glu)
c.63C>G (p.Asp21Glu)
12g.54293130G>TCA385109337NFE2c.366C>A (p.Asp122Glu)
c.333C>A (p.Asp111Glu)
c.63C>A (p.Asp21Glu)
 gnomAD v4
12g.54293131T>ACA385109340NFE2c.365A>T (p.Asp122Val)
c.332A>T (p.Asp111Val)
c.62A>T (p.Asp21Val)
12g.54293131T>CCA385109338NFE2c.365A>G (p.Asp122Gly)
c.332A>G (p.Asp111Gly)
c.62A>G (p.Asp21Gly)
12g.54293131T>GCA385109339NFE2c.365A>C (p.Asp122Ala)
c.332A>C (p.Asp111Ala)
c.62A>C (p.Asp21Ala)
 dbSNP
12g.54293131T=CA2037367900NFE2c.365A= (p.Asp122=)
c.332A= (p.Asp111=)
c.62A= (p.Asp21=)
12g.54293132C>ACA385109341NFE2c.364G>T (p.Asp122Tyr)
c.331G>T (p.Asp111Tyr)
c.61G>T (p.Asp21Tyr)
12g.54293132C>GCA385109342NFE2c.364G>C (p.Asp122His)
c.331G>C (p.Asp111His)
c.61G>C (p.Asp21His)
12g.54293132C>TCA385109343NFE2c.364G>A (p.Asp122Asn)
c.331G>A (p.Asp111Asn)
c.61G>A (p.Asp21Asn)
12g.54293133T>ACA385109344NFE2c.363A>T (p.Gln121His)
c.330A>T (p.Gln110His)
c.60A>T (p.Gln20His)
12g.54293133T>CCA480094768NFE2c.363A>G (p.Gln121=)
c.330A>G (p.Gln110=)
c.60A>G (p.Gln20=)
12g.54293133T>GCA385109345NFE2c.363A>C (p.Gln121His)
c.330A>C (p.Gln110His)
c.60A>C (p.Gln20His)
12g.54293134T>ACA385109346NFE2c.362A>T (p.Gln121Leu)
c.329A>T (p.Gln110Leu)
c.59A>T (p.Gln20Leu)
12g.54293134T>CCA385109348NFE2c.362A>G (p.Gln121Arg)
c.329A>G (p.Gln110Arg)
c.59A>G (p.Gln20Arg)
12g.54293134T>GCA385109347NFE2c.362A>C (p.Gln121Pro)
c.329A>C (p.Gln110Pro)
c.59A>C (p.Gln20Pro)
12g.54293135G>ACA385109349NFE2c.361C>T (p.Gln121Ter)
c.328C>T (p.Gln110Ter)
c.58C>T (p.Gln20Ter)
 dbSNP
12g.54293135G>CCA6606593NFE2c.361C>G (p.Gln121Glu)
c.328C>G (p.Gln110Glu)
c.58C>G (p.Gln20Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293135G=CA2037367901NFE2c.361C= (p.Gln121=)
c.328C= (p.Gln110=)
c.58C= (p.Gln20=)
12g.54293135G>TCA385109350NFE2c.361C>A (p.Gln121Lys)
c.328C>A (p.Gln110Lys)
c.58C>A (p.Gln20Lys)
12g.54293136G>ACA480094784NFE2c.360C>T (p.Leu120=)
c.327C>T (p.Leu109=)
c.57C>T (p.Leu19=)
 dbSNP gnomAD v2 gnomAD v4
12g.54293136G>CCA480094789NFE2c.360C>G (p.Leu120=)
c.327C>G (p.Leu109=)
c.57C>G (p.Leu19=)
12g.54293136G=CA2037367902NFE2c.360C= (p.Leu120=)
c.327C= (p.Leu109=)
c.57C= (p.Leu19=)
12g.54293136G>TCA480094787NFE2c.360C>A (p.Leu120=)
c.327C>A (p.Leu109=)
c.57C>A (p.Leu19=)
12g.54293137A>CCA385109351NFE2c.359T>G (p.Leu120Arg)
c.326T>G (p.Leu109Arg)
c.56T>G (p.Leu19Arg)
12g.54293137A>GCA385109352NFE2c.359T>C (p.Leu120Pro)
c.326T>C (p.Leu109Pro)
c.56T>C (p.Leu19Pro)
12g.54293137A>TCA385109353NFE2c.359T>A (p.Leu120His)
c.326T>A (p.Leu109His)
c.56T>A (p.Leu19His)
12g.54293138G>ACA385109354NFE2c.358C>T (p.Leu120Phe)
c.325C>T (p.Leu109Phe)
c.55C>T (p.Leu19Phe)
12g.54293138G>CCA385109355NFE2c.358C>G (p.Leu120Val)
c.325C>G (p.Leu109Val)
c.55C>G (p.Leu19Val)
12g.54293138G>TCA385109356NFE2c.358C>A (p.Leu120Ile)
c.325C>A (p.Leu109Ile)
c.55C>A (p.Leu19Ile)
12g.54293139C>ACA480094798NFE2c.357G>T (p.Pro119=)
c.324G>T (p.Pro108=)
c.54G>T (p.Pro18=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.54293139C=CA2037367903NFE2c.357G= (p.Pro119=)
c.324G= (p.Pro108=)
c.54G= (p.Pro18=)
12g.54293139C>GCA480094800NFE2c.357G>C (p.Pro119=)
c.324G>C (p.Pro108=)
c.54G>C (p.Pro18=)
12g.54293139C>TCA6606594NFE2c.357G>A (p.Pro119=)
c.324G>A (p.Pro108=)
c.54G>A (p.Pro18=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293140G>ACA385109359NFE2c.356C>T (p.Pro119Leu)
c.323C>T (p.Pro108Leu)
c.53C>T (p.Pro18Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.54293140G>CCA385109357NFE2c.356C>G (p.Pro119Arg)
c.323C>G (p.Pro108Arg)
c.53C>G (p.Pro18Arg)
12g.54293140G=CA2037367904NFE2c.356C= (p.Pro119=)
c.323C= (p.Pro108=)
c.53C= (p.Pro18=)
12g.54293140G>TCA385109358NFE2c.356C>A (p.Pro119Gln)
c.323C>A (p.Pro108Gln)
c.53C>A (p.Pro18Gln)
 dbSNP gnomAD v4
12g.54293146_54293167delCA2575178101NFE2c.335_356del (p.Leu112ArgfsTer6)
c.302_323del (p.Leu101ArgfsTer6)
c.32_53del (p.Leu11ArgfsTer6)
12g.54293141G>ACA385109360NFE2c.355C>T (p.Pro119Ser)
c.322C>T (p.Pro108Ser)
c.52C>T (p.Pro18Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.54293141G>CCA385109361NFE2c.355C>G (p.Pro119Ala)
c.322C>G (p.Pro108Ala)
c.52C>G (p.Pro18Ala)
12g.54293141G>TCA385109362NFE2c.355C>A (p.Pro119Thr)
c.322C>A (p.Pro108Thr)
c.52C>A (p.Pro18Thr)
12g.54293142C>ACA385109363NFE2c.354G>T (p.Glu118Asp)
c.321G>T (p.Glu107Asp)
c.51G>T (p.Glu17Asp)
 gnomAD v4
12g.54293142C>GCA385109364NFE2c.354G>C (p.Glu118Asp)
c.321G>C (p.Glu107Asp)
c.51G>C (p.Glu17Asp)
12g.54293142C>TCA480094809NFE2c.354G>A (p.Glu118=)
c.321G>A (p.Glu107=)
c.51G>A (p.Glu17=)
12g.54293143T>ACA385109365NFE2c.353A>T (p.Glu118Val)
c.320A>T (p.Glu107Val)
c.50A>T (p.Glu17Val)
12g.54293143T>CCA385109367NFE2c.353A>G (p.Glu118Gly)
c.320A>G (p.Glu107Gly)
c.50A>G (p.Glu17Gly)
12g.54293143T>GCA385109366NFE2c.353A>C (p.Glu118Ala)
c.320A>C (p.Glu107Ala)
c.50A>C (p.Glu17Ala)
12g.54293144C>ACA385109368NFE2c.352G>T (p.Glu118Ter)
c.319G>T (p.Glu107Ter)
c.49G>T (p.Glu17Ter)
 gnomAD v4
12g.54293144C>GCA385109369NFE2c.352G>C (p.Glu118Gln)
c.319G>C (p.Glu107Gln)
c.49G>C (p.Glu17Gln)
12g.54293144C>TCA385109370NFE2c.352G>A (p.Glu118Lys)
c.319G>A (p.Glu107Lys)
c.49G>A (p.Glu17Lys)
 gnomAD v4
12g.54293145A>CCA385109371NFE2c.351T>G (p.Ser117Arg)
c.318T>G (p.Ser106Arg)
c.48T>G (p.Ser16Arg)
12g.54293145A>GCA480094823NFE2c.351T>C (p.Ser117=)
c.318T>C (p.Ser106=)
c.48T>C (p.Ser16=)
 gnomAD v4 COSMIC
12g.54293145A>TCA385109372NFE2c.351T>A (p.Ser117Arg)
c.318T>A (p.Ser106Arg)
c.48T>A (p.Ser16Arg)
12g.54293146C>ACA385109373NFE2c.350G>T (p.Ser117Ile)
c.317G>T (p.Ser106Ile)
c.47G>T (p.Ser16Ile)
 gnomAD v4
12g.54293146C=CA2037367905NFE2c.350G= (p.Ser117=)
c.317G= (p.Ser106=)
c.47G= (p.Ser16=)
12g.54293146C>GCA385109374NFE2c.350G>C (p.Ser117Thr)
c.317G>C (p.Ser106Thr)
c.47G>C (p.Ser16Thr)
12g.54293146C>TCA6606595NFE2c.350G>A (p.Ser117Asn)
c.317G>A (p.Ser106Asn)
c.47G>A (p.Ser16Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293147T>ACA385109375NFE2c.349A>T (p.Ser117Cys)
c.316A>T (p.Ser106Cys)
c.46A>T (p.Ser16Cys)
12g.54293147T>CCA385109376NFE2c.349A>G (p.Ser117Gly)
c.316A>G (p.Ser106Gly)
c.46A>G (p.Ser16Gly)
12g.54293147T>GCA385109377NFE2c.349A>C (p.Ser117Arg)
c.316A>C (p.Ser106Arg)
c.46A>C (p.Ser16Arg)
12g.54293148G>ACA480094836NFE2c.348C>T (p.Leu116=)
c.315C>T (p.Leu105=)
c.45C>T (p.Leu15=)
 gnomAD v4 COSMIC
12g.54293148G>CCA480094837NFE2c.348C>G (p.Leu116=)
c.315C>G (p.Leu105=)
c.45C>G (p.Leu15=)
 dbSNP gnomAD v2 gnomAD v4
12g.54293148G=CA2037367906NFE2c.348C= (p.Leu116=)
c.315C= (p.Leu105=)
c.45C= (p.Leu15=)
12g.54293148G>TCA480094838NFE2c.348C>A (p.Leu116=)
c.315C>A (p.Leu105=)
c.45C>A (p.Leu15=)
 gnomAD v4
12g.54293149A>CCA385109378NFE2c.347T>G (p.Leu116Arg)
c.314T>G (p.Leu105Arg)
c.44T>G (p.Leu15Arg)
12g.54293149A>GCA385109380NFE2c.347T>C (p.Leu116Pro)
c.314T>C (p.Leu105Pro)
c.44T>C (p.Leu15Pro)
 gnomAD v4
12g.54293149A>TCA385109379NFE2c.347T>A (p.Leu116His)
c.314T>A (p.Leu105His)
c.44T>A (p.Leu15His)
12g.54293149_54293153delinsAGCAGCA2037367907NFE2c.343_347delinsCTGCT (p.Leu115=)
c.310_314delinsCTGCT (p.Leu104=)
c.40_44delinsCTGCT (p.Leu14=)
12g.54293150G>ACA385109381NFE2c.346C>T (p.Leu116Phe)
c.313C>T (p.Leu105Phe)
c.43C>T (p.Leu15Phe)
12g.54293150G>CCA385109382NFE2c.346C>G (p.Leu116Val)
c.313C>G (p.Leu105Val)
c.43C>G (p.Leu15Val)
12g.54293150G>TCA385109383NFE2c.346C>A (p.Leu116Ile)
c.313C>A (p.Leu105Ile)
c.43C>A (p.Leu15Ile)
12g.54293152_54293155delCA605245644NFE2c.343_346del (p.Leu115SerfsTer9)
c.310_313del (p.Leu104SerfsTer9)
c.40_43del (p.Leu14SerfsTer9)
 dbSNP gnomAD v2 gnomAD v4
12g.54293151C>ACA480094850NFE2c.345G>T (p.Leu115=)
c.312G>T (p.Leu104=)
c.42G>T (p.Leu14=)
 gnomAD v4
12g.54293151C=CA2037367908NFE2c.345G= (p.Leu115=)
c.312G= (p.Leu104=)
c.42G= (p.Leu14=)
12g.54293151C>GCA6606596NFE2c.345G>C (p.Leu115=)
c.312G>C (p.Leu104=)
c.42G>C (p.Leu14=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293151C>TCA480094855NFE2c.345G>A (p.Leu115=)
c.312G>A (p.Leu104=)
c.42G>A (p.Leu14=)
 gnomAD v4
12g.54293152A=CA2037367909NFE2c.344T= (p.Leu115=)
c.311T= (p.Leu104=)
c.41T= (p.Leu14=)
12g.54293152A>CCA385109384NFE2c.344T>G (p.Leu115Arg)
c.311T>G (p.Leu104Arg)
c.41T>G (p.Leu14Arg)
12g.54293152A>GCA385109385NFE2c.344T>C (p.Leu115Pro)
c.311T>C (p.Leu104Pro)
c.41T>C (p.Leu14Pro)
12g.54293152A>TCA385109386NFE2c.344T>A (p.Leu115Gln)
c.311T>A (p.Leu104Gln)
c.41T>A (p.Leu14Gln)
 dbSNP gnomAD v4
12g.54293153G>ACA480094864NFE2c.343C>T (p.Leu115=)
c.310C>T (p.Leu104=)
c.40C>T (p.Leu14=)
 dbSNP gnomAD v3 gnomAD v4
12g.54293153G>CCA6606597NFE2c.343C>G (p.Leu115Val)
c.310C>G (p.Leu104Val)
c.40C>G (p.Leu14Val)
 dbSNP ExAC gnomAD v2
12g.54293153G=CA2037367910NFE2c.343C= (p.Leu115=)
c.310C= (p.Leu104=)
c.40C= (p.Leu14=)
12g.54293153G>TCA385109387NFE2c.343C>A (p.Leu115Met)
c.310C>A (p.Leu104Met)
c.40C>A (p.Leu14Met)
12g.54293154G>ACA6606598NFE2c.342C>T (p.Gly114=)
c.309C>T (p.Gly103=)
c.39C>T (p.Gly13=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.54293154G>CCA6606599NFE2c.342C>G (p.Gly114=)
c.309C>G (p.Gly103=)
c.39C>G (p.Gly13=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.54293154G=CA2037367911NFE2c.342C= (p.Gly114=)
c.309C= (p.Gly103=)
c.39C= (p.Gly13=)
12g.54293154G>TCA480094876NFE2c.342C>A (p.Gly114=)
c.309C>A (p.Gly103=)
c.39C>A (p.Gly13=)
12g.54293155C>ACA385109390NFE2c.341G>T (p.Gly114Val)
c.308G>T (p.Gly103Val)
c.38G>T (p.Gly13Val)
 gnomAD v4
12g.54293155C>GCA385109389NFE2c.341G>C (p.Gly114Ala)
c.308G>C (p.Gly103Ala)
c.38G>C (p.Gly13Ala)
12g.54293155C>TCA385109388NFE2c.341G>A (p.Gly114Asp)
c.308G>A (p.Gly103Asp)
c.38G>A (p.Gly13Asp)
12g.54293156C>ACA385109391NFE2c.340G>T (p.Gly114Cys)
c.307G>T (p.Gly103Cys)
c.37G>T (p.Gly13Cys)
12g.54293156C>GCA385109392NFE2c.340G>C (p.Gly114Arg)
c.307G>C (p.Gly103Arg)
c.37G>C (p.Gly13Arg)
12g.54293156C>TCA385109393NFE2c.340G>A (p.Gly114Ser)
c.307G>A (p.Gly103Ser)
c.37G>A (p.Gly13Ser)
12g.54293157T>ACA480094885NFE2c.339A>T (p.Ser113=)
c.306A>T (p.Ser102=)
c.36A>T (p.Ser12=)
12g.54293157T>CCA480094886NFE2c.339A>G (p.Ser113=)
c.306A>G (p.Ser102=)
c.36A>G (p.Ser12=)
 gnomAD v4
12g.54293157T>GCA480094887NFE2c.339A>C (p.Ser113=)
c.306A>C (p.Ser102=)
c.36A>C (p.Ser12=)
12g.54293158G>ACA385109394NFE2c.338C>T (p.Ser113Leu)
c.305C>T (p.Ser102Leu)
c.35C>T (p.Ser12Leu)
 gnomAD v4 COSMIC
12g.54293158G>CCA385109395NFE2c.338C>G (p.Ser113Ter)
c.305C>G (p.Ser102Ter)
c.35C>G (p.Ser12Ter)
 COSMIC
12g.54293158G>TCA385109396NFE2c.338C>A (p.Ser113Ter)
c.305C>A (p.Ser102Ter)
c.35C>A (p.Ser12Ter)
12g.54293159A>CCA385109397NFE2c.337T>G (p.Ser113Ala)
c.304T>G (p.Ser102Ala)
c.34T>G (p.Ser12Ala)
12g.54293159A>GCA385109398NFE2c.337T>C (p.Ser113Pro)
c.304T>C (p.Ser102Pro)
c.34T>C (p.Ser12Pro)
12g.54293159A>TCA385109399NFE2c.337T>A (p.Ser113Thr)
c.304T>A (p.Ser102Thr)
c.34T>A (p.Ser12Thr)
12g.54293160G>ACA480094894NFE2c.336C>T (p.Leu112=)
c.303C>T (p.Leu101=)
c.33C>T (p.Leu11=)
 gnomAD v4
12g.54293160G>CCA480094903NFE2c.336C>G (p.Leu112=)
c.303C>G (p.Leu101=)
c.33C>G (p.Leu11=)
12g.54293160G>TCA480094905NFE2c.336C>A (p.Leu112=)
c.303C>A (p.Leu101=)
c.33C>A (p.Leu11=)
12g.54293161A=CA2037367912NFE2c.335T= (p.Leu112=)
c.302T= (p.Leu101=)
c.32T= (p.Leu11=)
12g.54293161A>CCA385109400NFE2c.335T>G (p.Leu112Arg)
c.302T>G (p.Leu101Arg)
c.32T>G (p.Leu11Arg)
12g.54293161A>GCA385109401NFE2c.335T>C (p.Leu112Pro)
c.302T>C (p.Leu101Pro)
c.32T>C (p.Leu11Pro)
 dbSNP gnomAD v2 gnomAD v4
12g.54293161A>TCA385109402NFE2c.335T>A (p.Leu112His)
c.302T>A (p.Leu101His)
c.32T>A (p.Leu11His)
12g.54293162G>ACA385109405NFE2c.334C>T (p.Leu112Phe)
c.301C>T (p.Leu101Phe)
c.31C>T (p.Leu11Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.54293162G>CCA385109404NFE2c.334C>G (p.Leu112Val)
c.301C>G (p.Leu101Val)
c.31C>G (p.Leu11Val)
12g.54293162G=CA2037367913NFE2c.334C= (p.Leu112=)
c.301C= (p.Leu101=)
c.31C= (p.Leu11=)
12g.54293162G>TCA385109403NFE2c.334C>A (p.Leu112Ile)
c.301C>A (p.Leu101Ile)
c.31C>A (p.Leu11Ile)
12g.54293163G>ACA480094912NFE2c.333C>T (p.Ser111=)
c.300C>T (p.Ser100=)
c.30C>T (p.Ser10=)
12g.54293163G>CCA385109406NFE2c.333C>G (p.Ser111Arg)
c.300C>G (p.Ser100Arg)
c.30C>G (p.Ser10Arg)
12g.54293163G>TCA385109407NFE2c.333C>A (p.Ser111Arg)
c.300C>A (p.Ser100Arg)
c.30C>A (p.Ser10Arg)
 gnomAD v4
12g.54293164C>ACA385109408NFE2c.332G>T (p.Ser111Ile)
c.299G>T (p.Ser100Ile)
c.29G>T (p.Ser10Ile)
12g.54293164C>GCA385109409NFE2c.332G>C (p.Ser111Thr)
c.299G>C (p.Ser100Thr)
c.29G>C (p.Ser10Thr)
12g.54293164C>TCA385109410NFE2c.332G>A (p.Ser111Asn)
c.299G>A (p.Ser100Asn)
c.29G>A (p.Ser10Asn)
 gnomAD v4
12g.54293165T>ACA385109411NFE2c.331A>T (p.Ser111Cys)
c.298A>T (p.Ser100Cys)
c.28A>T (p.Ser10Cys)
12g.54293165T>CCA385109412NFE2c.331A>G (p.Ser111Gly)
c.298A>G (p.Ser100Gly)
c.28A>G (p.Ser10Gly)
12g.54293165T>GCA385109413NFE2c.331A>C (p.Ser111Arg)
c.298A>C (p.Ser100Arg)
c.28A>C (p.Ser10Arg)
12g.54293166C>ACA480094935NFE2c.330G>T (p.Leu110=)
c.297G>T (p.Leu99=)
c.27G>T (p.Leu9=)
12g.54293166C>GCA480094933NFE2c.330G>C (p.Leu110=)
c.297G>C (p.Leu99=)
c.27G>C (p.Leu9=)
12g.54293166C>TCA480094934NFE2c.330G>A (p.Leu110=)
c.297G>A (p.Leu99=)
c.27G>A (p.Leu9=)
12g.54293167A>CCA385109416NFE2c.329T>G (p.Leu110Arg)
c.296T>G (p.Leu99Arg)
c.26T>G (p.Leu9Arg)
12g.54293167A>GCA385109414NFE2c.329T>C (p.Leu110Pro)
c.296T>C (p.Leu99Pro)
c.26T>C (p.Leu9Pro)
12g.54293167A>TCA385109415NFE2c.329T>A (p.Leu110Gln)
c.296T>A (p.Leu99Gln)
c.26T>A (p.Leu9Gln)
12g.54293168G>ACA480094947NFE2c.328C>T (p.Leu110=)
c.295C>T (p.Leu99=)
c.25C>T (p.Leu9=)
12g.54293168G>CCA385109417NFE2c.328C>G (p.Leu110Val)
c.295C>G (p.Leu99Val)
c.25C>G (p.Leu9Val)
12g.54293168G>TCA385109418NFE2c.328C>A (p.Leu110Met)
c.295C>A (p.Leu99Met)
c.25C>A (p.Leu9Met)

Number of alleles fetched