Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49951054G>ACA236731436AQP2c.224G>A (p.Cys75Tyr)
dbSNP gnomAD v3 gnomAD v4
12g.49951054G>CCA236731443AQP2c.224G>C (p.Cys75Ser)
dbSNP
12g.49951054G=CA2035390666AQP2c.224G= (p.Cys75=)
12g.49951054G>TCA384772145AQP2c.224G>T (p.Cys75Phe)
COSMIC
12g.49951055C>ACA384772146AQP2c.225C>A (p.Cys75Ter)
12g.49951055C=CA2035390668AQP2c.225C= (p.Cys75=)
12g.49951055C>GCA384772147AQP2c.225C>G (p.Cys75Trp)
12g.49951055C>TCA236731455AQP2c.225C>T (p.Cys75=)
dbSNP
12g.49951056C>ACA384772148AQP2c.226C>A (p.Leu76Met)
12g.49951056C>GCA384772149AQP2c.226C>G (p.Leu76Val)
12g.49951056C>TCA479584147AQP2c.226C>T (p.Leu76=)
12g.49951057T>ACA384772150AQP2c.227T>A (p.Leu76Gln)
12g.49951057T>CCA384772151AQP2c.227T>C (p.Leu76Pro)
12g.49951057T>GCA384772152AQP2c.227T>G (p.Leu76Arg)
12g.49951058G>ACA479584148AQP2c.228G>A (p.Leu76=)
gnomAD v4
12g.49951058G>CCA479584149AQP2c.228G>C (p.Leu76=)
gnomAD v4
12g.49951058G>TCA479584150AQP2c.228G>T (p.Leu76=)
12g.49951059G>ACA384772154AQP2c.229G>A (p.Val77Met)
gnomAD v4
12g.49951059G>CCA384772155AQP2c.229G>C (p.Val77Leu)
12g.49951059G>TCA384772156AQP2c.229G>T (p.Val77Leu)
COSMIC
12g.49951060T>ACA384772157AQP2c.230T>A (p.Val77Glu)
12g.49951060T>CCA384772158AQP2c.230T>C (p.Val77Ala)
12g.49951060T>GCA384772159AQP2c.230T>G (p.Val77Gly)
12g.49951061G>ACA479584152AQP2c.231G>A (p.Val77=)
dbSNP COSMIC
12g.49951061G>CCA479584153AQP2c.231G>C (p.Val77=)
12g.49951061G=CA2035390670AQP2c.231G= (p.Val77=)
12g.49951061G>TCA479584154AQP2c.231G>T (p.Val77=)
dbSNP
12g.49951062G>ACA6559170AQP2c.232G>A (p.Gly78Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951062G>CCA384772161AQP2c.232G>C (p.Gly78Arg)
gnomAD v4
12g.49951062G=CA2035390675AQP2c.232G= (p.Gly78=)
12g.49951062G>TCA384772160AQP2c.232G>T (p.Gly78Cys)
12g.49951063G>ACA384772162AQP2c.233G>A (p.Gly78Asp)
12g.49951063G>CCA384772164AQP2c.233G>C (p.Gly78Ala)
gnomAD v4
12g.49951063G>TCA384772163AQP2c.233G>T (p.Gly78Val)
12g.49951064C>ACA479584156AQP2c.234C>A (p.Gly78=)
ClinVar
12g.49951064C=CA2035390677AQP2c.234C= (p.Gly78=)
12g.49951064C>GCA479584157AQP2c.234C>G (p.Gly78=)
12g.49951064C>TCA236731461AQP2c.234C>T (p.Gly78=)
dbSNP gnomAD v3 gnomAD v4
12g.49951065T>ACA384772165AQP2c.235T>A (p.Cys79Ser)
12g.49951065T>CCA384772167AQP2c.235T>C (p.Cys79Arg)
12g.49951065T>GCA384772166AQP2c.235T>G (p.Cys79Gly)
12g.49951066G>ACA384772168AQP2c.236G>A (p.Cys79Tyr)
12g.49951066G>CCA384772169AQP2c.236G>C (p.Cys79Ser)
12g.49951066G>TCA384772170AQP2c.236G>T (p.Cys79Phe)
12g.49951067C>ACA384772171AQP2c.237C>A (p.Cys79Ter)
12g.49951067C=CA2035390682AQP2c.237C= (p.Cys79=)
12g.49951067C>GCA384772172AQP2c.237C>G (p.Cys79Trp)
12g.49951067C>TCA6559171AQP2c.237C>T (p.Cys79=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951068C>ACA384772173AQP2c.238C>A (p.His80Asn)
12g.49951068C>GCA384772174AQP2c.238C>G (p.His80Asp)
12g.49951068C>TCA384772175AQP2c.238C>T (p.His80Tyr)
12g.49951069A>CCA384772176AQP2c.239A>C (p.His80Pro)
12g.49951069A>GCA384772177AQP2c.239A>G (p.His80Arg)
gnomAD v4
12g.49951069A>TCA384772178AQP2c.239A>T (p.His80Leu)
gnomAD v4
12g.49951070delCA2580086375AQP2c.240del (p.His80GlnfsTer?)
ClinVar
12g.49951070C>ACA384772180AQP2c.240C>A (p.His80Gln)
gnomAD v4
12g.49951070C=CA2035390685AQP2c.240C= (p.His80=)
12g.49951070C>GCA384772179AQP2c.240C>G (p.His80Gln)
12g.49951070C>TCA6559172AQP2c.240C>T (p.His80=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951071delCA2575150911AQP2c.241del (p.Val81SerfsTer?)
12g.49951071G>ACA6559173AQP2c.241G>A (p.Val81Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49951071G>CCA384772181AQP2c.241G>C (p.Val81Leu)
12g.49951071G=CA2035390688AQP2c.241G= (p.Val81=)
12g.49951071G>TCA384772182AQP2c.241G>T (p.Val81Phe)
12g.49951072T>ACA384772183AQP2c.242T>A (p.Val81Asp)
gnomAD v4
12g.49951072T>CCA236731483AQP2c.242T>C (p.Val81Ala)
dbSNP gnomAD v2 gnomAD v4
12g.49951072T>GCA384772184AQP2c.242T>G (p.Val81Gly)
12g.49951072T=CA2035390691AQP2c.242T= (p.Val81=)
12g.49951073C>ACA479584164AQP2c.243C>A (p.Val81=)
12g.49951073C>GCA479584165AQP2c.243C>G (p.Val81=)
gnomAD v4
12g.49951073C>TCA479584166AQP2c.243C>T (p.Val81=)
12g.49951074T>ACA384772185AQP2c.244T>A (p.Ser82Thr)
12g.49951074T>CCA384772186AQP2c.244T>C (p.Ser82Pro)
12g.49951074T>GCA384772187AQP2c.244T>G (p.Ser82Ala)
12g.49951075C>ACA384772188AQP2c.245C>A (p.Ser82Tyr)
12g.49951075C=CA2035390695AQP2c.245C= (p.Ser82=)
12g.49951075C>GCA384772189AQP2c.245C>G (p.Ser82Cys)
12g.49951075C>TCA236731485AQP2c.245C>T (p.Ser82Phe)
dbSNP gnomAD v2 gnomAD v4
12g.49951076C>ACA479584167AQP2c.246C>A (p.Ser82=)
12g.49951076C=CA2035390698AQP2c.246C= (p.Ser82=)
12g.49951076C>GCA479584169AQP2c.246C>G (p.Ser82=)
ClinVar dbSNP
12g.49951076C>TCA6559174AQP2c.246C>T (p.Ser82=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49951077G>ACA6559175AQP2c.247G>A (p.Val83Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951077G>CCA384772190AQP2c.247G>C (p.Val83Leu)
gnomAD v4
12g.49951077G=CA2035390701AQP2c.247G= (p.Val83=)
12g.49951077G>TCA384772191AQP2c.247G>T (p.Val83Phe)
dbSNP
12g.49951078T>ACA384772192AQP2c.248T>A (p.Val83Asp)
12g.49951078T>CCA384772193AQP2c.248T>C (p.Val83Ala)
12g.49951078T>GCA384772194AQP2c.248T>G (p.Val83Gly)
12g.49951079T>ACA479584170AQP2c.249T>A (p.Val83=)
12g.49951079T>CCA479584171AQP2c.249T>C (p.Val83=)
12g.49951079T>GCA479584173AQP2c.249T>G (p.Val83=)
12g.49951080C>ACA384772195AQP2c.250C>A (p.Leu84Ile)
12g.49951080C>GCA384772196AQP2c.250C>G (p.Leu84Val)
12g.49951080C>TCA384772197AQP2c.250C>T (p.Leu84Phe)
12g.49951081T>ACA384772198AQP2c.251T>A (p.Leu84His)
12g.49951081T>CCA384772199AQP2c.251T>C (p.Leu84Pro)
12g.49951081T>GCA6559176AQP2c.251T>G (p.Leu84Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951081T=CA2035390704AQP2c.251T= (p.Leu84=)
12g.49951082C>ACA479584176AQP2c.252C>A (p.Leu84=)
12g.49951082C>GCA479584177AQP2c.252C>G (p.Leu84=)
12g.49951082C>TCA479584178AQP2c.252C>T (p.Leu84=)
COSMIC
12g.49951083C>ACA479584180AQP2c.253C>A (p.Arg85=)
12g.49951083C=CA2035390709AQP2c.253C= (p.Arg85=)
12g.49951083C>GCA384772200AQP2c.253C>G (p.Arg85Gly)
12g.49951083C>TCA6559177AQP2c.253C>T (p.Arg85Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.49951084G>ACA384772203AQP2c.254G>A (p.Arg85Gln)
dbSNP gnomAD v3 gnomAD v4
12g.49951084G>CCA384772201AQP2c.254G>C (p.Arg85Pro)
12g.49951084G=CA2035390711AQP2c.254G= (p.Arg85=)
12g.49951084G>TCA384772202AQP2c.254G>T (p.Arg85Leu)
12g.49951085A=CA2035390715AQP2c.255A= (p.Arg85=)
12g.49951085A>CCA479584181AQP2c.255A>C (p.Arg85=)
12g.49951085A>GCA479584182AQP2c.255A>G (p.Arg85=)
ClinVar dbSNP
12g.49951085A>TCA6559178AQP2c.255A>T (p.Arg85=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951086G>ACA6559179AQP2c.256G>A (p.Ala86Thr)
dbSNP ExAC gnomAD v2
12g.49951086G>CCA384772204AQP2c.256G>C (p.Ala86Pro)
12g.49951086G=CA2035390719AQP2c.256G= (p.Ala86=)
12g.49951086G>TCA384772205AQP2c.256G>T (p.Ala86Ser)
12g.49951087C>ACA384772206AQP2c.257C>A (p.Ala86Asp)
12g.49951087C=CA2035390721AQP2c.257C= (p.Ala86=)
12g.49951087C>GCA384772207AQP2c.257C>G (p.Ala86Gly)
12g.49951087C>TCA384772208AQP2c.257C>T (p.Ala86Val)
dbSNP gnomAD v2 gnomAD v4
12g.49951088C>ACA479584186AQP2c.258C>A (p.Ala86=)
12g.49951088C=CA2035390725AQP2c.258C= (p.Ala86=)
12g.49951088C>GCA479584187AQP2c.258C>G (p.Ala86=)
12g.49951088C>TCA6559180AQP2c.258C>T (p.Ala86=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951088_49951111delinsCGCCTTCTACGTGGCTGCCCAGCTCA2035390726AQP2c.258_281delinsCGCCTTCTACGTGGCTGCCCAGCT (p.Ala86=)
12g.49951089G>ACA6559181AQP2c.259G>A (p.Ala87Thr)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.49951089G>CCA384772209AQP2c.259G>C (p.Ala87Pro)
12g.49951089G=CA2035390733AQP2c.259G= (p.Ala87=)
12g.49951089G>TCA384772210AQP2c.259G>T (p.Ala87Ser)
12g.49951091_49951113delCA689626206AQP2c.261_283del (p.Phe88GlyfsTer11)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49951090C>ACA384772211AQP2c.260C>A (p.Ala87Asp)
12g.49951090C=CA2035390737AQP2c.260C= (p.Ala87=)
12g.49951090C>GCA384772213AQP2c.260C>G (p.Ala87Gly)
12g.49951090C>TCA384772212AQP2c.260C>T (p.Ala87Val)
dbSNP gnomAD v3 gnomAD v4
12g.49951091C>ACA479584188AQP2c.261C>A (p.Ala87=)
12g.49951091C>GCA479584189AQP2c.261C>G (p.Ala87=)
12g.49951091C>TCA479584190AQP2c.261C>T (p.Ala87=)
12g.49951092T>ACA384772214AQP2c.262T>A (p.Phe88Ile)
12g.49951092T>CCA384772215AQP2c.262T>C (p.Phe88Leu)
12g.49951092T>GCA6559182AQP2c.262T>G (p.Phe88Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951092T=CA2035390739AQP2c.262T= (p.Phe88=)
12g.49951093T>ACA384772216AQP2c.263T>A (p.Phe88Tyr)
12g.49951093T>CCA384772217AQP2c.263T>C (p.Phe88Ser)
12g.49951093T>GCA384772218AQP2c.263T>G (p.Phe88Cys)
COSMIC
12g.49951094C>ACA384772219AQP2c.264C>A (p.Phe88Leu)
12g.49951094C>GCA384772220AQP2c.264C>G (p.Phe88Leu)
12g.49951094C>TCA479584193AQP2c.264C>T (p.Phe88=)
12g.49951095T>ACA384772221AQP2c.265T>A (p.Tyr89Asn)
dbSNP gnomAD v3 gnomAD v4
12g.49951095T>CCA384772222AQP2c.265T>C (p.Tyr89His)
12g.49951095T>GCA384772223AQP2c.265T>G (p.Tyr89Asp)
12g.49951095T=CA2035390741AQP2c.265T= (p.Tyr89=)
12g.49951096A=CA2035390745AQP2c.266A= (p.Tyr89=)
12g.49951096A>CCA384772224AQP2c.266A>C (p.Tyr89Ser)
12g.49951096A>GCA236731571AQP2c.266A>G (p.Tyr89Cys)
dbSNP gnomAD v4
12g.49951096A>TCA384772225AQP2c.266A>T (p.Tyr89Phe)
12g.49951097C>ACA384772226AQP2c.267C>A (p.Tyr89Ter)
COSMIC
12g.49951097C=CA2035390749AQP2c.267C= (p.Tyr89=)
12g.49951097C>GCA384772227AQP2c.267C>G (p.Tyr89Ter)
12g.49951097C>TCA6559183AQP2c.267C>T (p.Tyr89=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951098G>ACA6559184AQP2c.268G>A (p.Val90Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49951098G>CCA384772228AQP2c.268G>C (p.Val90Leu)
12g.49951098G=CA2035390752AQP2c.268G= (p.Val90=)
12g.49951098G>TCA384772229AQP2c.268G>T (p.Val90Leu)
12g.49951099T>ACA384772230AQP2c.269T>A (p.Val90Glu)
12g.49951099T>CCA6559185AQP2c.269T>C (p.Val90Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951099T>GCA384772231AQP2c.269T>G (p.Val90Gly)
12g.49951099T=CA2035390753AQP2c.269T= (p.Val90=)
12g.49951100G>ACA479584198AQP2c.270G>A (p.Val90=)
12g.49951100G>CCA479584200AQP2c.270G>C (p.Val90=)
12g.49951100G=CA2035390754AQP2c.270G= (p.Val90=)
12g.49951100G>TCA479584199AQP2c.270G>T (p.Val90=)
dbSNP gnomAD v4
12g.49951101G>ACA384772232AQP2c.271G>A (p.Ala91Thr)
gnomAD v4
12g.49951101G>CCA384772233AQP2c.271G>C (p.Ala91Pro)
12g.49951101G>TCA384772234AQP2c.271G>T (p.Ala91Ser)
gnomAD v4 COSMIC
12g.49951102C>ACA384772236AQP2c.272C>A (p.Ala91Asp)
12g.49951102C=CA2035390756AQP2c.272C= (p.Ala91=)
12g.49951102C>GCA384772237AQP2c.272C>G (p.Ala91Gly)
12g.49951102C>TCA384772235AQP2c.272C>T (p.Ala91Val)
dbSNP gnomAD v4
12g.49951103T>ACA479584205AQP2c.273T>A (p.Ala91=)
dbSNP gnomAD v3 gnomAD v4
12g.49951103T>CCA479584206AQP2c.273T>C (p.Ala91=)
ClinVar dbSNP
12g.49951103T>GCA6559186AQP2c.273T>G (p.Ala91=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951103T=CA2035390759AQP2c.273T= (p.Ala91=)
12g.49951104G>ACA384772238AQP2c.274G>A (p.Ala92Thr)
12g.49951104G>CCA384772239AQP2c.274G>C (p.Ala92Pro)
12g.49951104G>TCA384772240AQP2c.274G>T (p.Ala92Ser)
12g.49951105C>ACA384772241AQP2c.275C>A (p.Ala92Asp)
gnomAD v4
12g.49951105C=CA2035390761AQP2c.275C= (p.Ala92=)
12g.49951105C>GCA384772242AQP2c.275C>G (p.Ala92Gly)
12g.49951105C>TCA384772243AQP2c.275C>T (p.Ala92Val)
dbSNP gnomAD v2 gnomAD v4
12g.49951106C>ACA236731613AQP2c.276C>A (p.Ala92=)
ClinVar dbSNP
12g.49951106C=CA2035390766AQP2c.276C= (p.Ala92=)
12g.49951106C>GCA6559187AQP2c.276C>G (p.Ala92=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951106C>TCA479584209AQP2c.276C>T (p.Ala92=)
12g.49951107C>ACA384772244AQP2c.277C>A (p.Gln93Lys)
12g.49951107C=CA2035390771AQP2c.277C= (p.Gln93=)
12g.49951107C>GCA384772245AQP2c.277C>G (p.Gln93Glu)
12g.49951107C>TCA6559188AQP2c.277C>T (p.Gln93Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951108A>CCA384772248AQP2c.278A>C (p.Gln93Pro)
12g.49951108A>GCA384772246AQP2c.278A>G (p.Gln93Arg)
12g.49951108A>TCA384772247AQP2c.278A>T (p.Gln93Leu)
12g.49951109G>ACA479584213AQP2c.279G>A (p.Gln93=)
12g.49951109G>CCA384772249AQP2c.279G>C (p.Gln93His)
gnomAD v4
12g.49951109G>TCA384772250AQP2c.279G>T (p.Gln93His)
12g.49951110C>ACA384772251AQP2c.280C>A (p.Leu94Met)
dbSNP gnomAD v2
12g.49951110C=CA2035390774AQP2c.280C= (p.Leu94=)
12g.49951110C>GCA384772252AQP2c.280C>G (p.Leu94Val)
gnomAD v4
12g.49951110C>TCA479584215AQP2c.280C>T (p.Leu94=)
12g.49951111T>ACA384772253AQP2c.281T>A (p.Leu94Gln)
12g.49951111T>CCA384772254AQP2c.281T>C (p.Leu94Pro)
12g.49951111T>GCA384772255AQP2c.281T>G (p.Leu94Arg)
12g.49951112G>ACA479584218AQP2c.282G>A (p.Leu94=)
12g.49951112G>CCA479584219AQP2c.282G>C (p.Leu94=)
gnomAD v4
12g.49951112G>TCA479584220AQP2c.282G>T (p.Leu94=)
12g.49951113C>ACA384772256AQP2c.283C>A (p.Leu95Met)
12g.49951113C=CA2035390776AQP2c.283C= (p.Leu95=)
12g.49951113C>GCA384772257AQP2c.283C>G (p.Leu95Val)
dbSNP
12g.49951113C>TCA479584221AQP2c.283C>T (p.Leu95=)
12g.49951113_49951115delinsCTGCA2035390777AQP2c.283_285delinsCTG (p.Leu95=)
12g.49951114T>ACA384772258AQP2c.284T>A (p.Leu95Gln)
12g.49951114T>CCA384772259AQP2c.284T>C (p.Leu95Pro)
12g.49951114T>GCA384772260AQP2c.284T>G (p.Leu95Arg)
12g.49951114_49951115delCA6559189AQP2c.284_285del (p.Leu95ArgfsTer11)
dbSNP ExAC gnomAD v2
12g.49951115G>ACA479584223AQP2c.285G>A (p.Leu95=)
gnomAD v4
12g.49951115G>CCA479584224AQP2c.285G>C (p.Leu95=)
gnomAD v4
12g.49951115G>TCA479584225AQP2c.285G>T (p.Leu95=)
12g.49951119dupCA2618691151AQP2c.289dup (p.Ala97GlyfsTer10)
gnomAD v4
12g.49951119delCA2795926928AQP2c.289del (p.Ala97LeufsTer?)
12g.49951116G>ACA384772262AQP2c.286G>A (p.Gly96Arg)
12g.49951116G>CCA384772263AQP2c.286G>C (p.Gly96Arg)
12g.49951116G=CA2035390781AQP2c.286G= (p.Gly96=)
12g.49951116G>TCA384772261AQP2c.286G>T (p.Gly96Trp)
dbSNP gnomAD v2
12g.49951117G>ACA384772266AQP2c.287G>A (p.Gly96Glu)
ClinVar
12g.49951117G>CCA384772264AQP2c.287G>C (p.Gly96Ala)
12g.49951117G>TCA384772265AQP2c.287G>T (p.Gly96Val)
12g.49951118G>ACA479584227AQP2c.288G>A (p.Gly96=)
12g.49951118G>CCA479584228AQP2c.288G>C (p.Gly96=)
gnomAD v4
12g.49951118G=CA2035390783AQP2c.288G= (p.Gly96=)
12g.49951118G>TCA6559190AQP2c.288G>T (p.Gly96=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951119G>ACA384772267AQP2c.289G>A (p.Ala97Thr)
12g.49951119G>CCA384772268AQP2c.289G>C (p.Ala97Pro)
12g.49951119G>TCA384772269AQP2c.289G>T (p.Ala97Ser)
gnomAD v4
12g.49951120delCA2618691158AQP2c.290del (p.Ala97ValfsTer?)
gnomAD v4
12g.49951120C>ACA384772270AQP2c.290C>A (p.Ala97Asp)
12g.49951120C>GCA384772271AQP2c.290C>G (p.Ala97Gly)
12g.49951120C>TCA384772272AQP2c.290C>T (p.Ala97Val)
12g.49951121T>ACA479584233AQP2c.291T>A (p.Ala97=)
12g.49951121T>CCA479584234AQP2c.291T>C (p.Ala97=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49951121T>GCA479584235AQP2c.291T>G (p.Ala97=)
12g.49951121T=CA2035390784AQP2c.291T= (p.Ala97=)
12g.49951122G>ACA6559191AQP2c.292G>A (p.Val98Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951122G>CCA384772273AQP2c.292G>C (p.Val98Leu)
12g.49951122G=CA2035390786AQP2c.292G= (p.Val98=)
12g.49951122G>TCA6559192AQP2c.292G>T (p.Val98Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951123T>ACA384772276AQP2c.293T>A (p.Val98Glu)
12g.49951123T>CCA384772274AQP2c.293T>C (p.Val98Ala)
12g.49951123T>GCA384772275AQP2c.293T>G (p.Val98Gly)
12g.49951124G>ACA479584241AQP2c.294G>A (p.Val98=)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49951124G>CCA479584238AQP2c.294G>C (p.Val98=)
12g.49951124G=CA2035390790AQP2c.294G= (p.Val98=)
12g.49951124G>TCA479584240AQP2c.294G>T (p.Val98=)
12g.49951125G>ACA236731640AQP2c.295G>A (p.Ala99Thr)
dbSNP gnomAD v4
12g.49951125G>CCA384772277AQP2c.295G>C (p.Ala99Pro)
12g.49951125G=CA2035390793AQP2c.295G= (p.Ala99=)
12g.49951125G>TCA384772278AQP2c.295G>T (p.Ala99Ser)
12g.49951126C>ACA384772279AQP2c.296C>A (p.Ala99Asp)
12g.49951126C>GCA384772280AQP2c.296C>G (p.Ala99Gly)
12g.49951126C>TCA384772281AQP2c.296C>T (p.Ala99Val)
gnomAD v4
12g.49951127C>ACA479584242AQP2c.297C>A (p.Ala99=)
ClinVar gnomAD v4
12g.49951127C=CA2035390798AQP2c.297C= (p.Ala99=)
12g.49951127C>GCA236731655AQP2c.297C>G (p.Ala99=)
ClinVar dbSNP gnomAD v4
12g.49951127C>TCA479584245AQP2c.297C>T (p.Ala99=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49951128G>ACA384772282AQP2c.298G>A (p.Gly100Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.49951128G>CCA384772283AQP2c.298G>C (p.Gly100Arg)
12g.49951128G=CA2035390800AQP2c.298G= (p.Gly100=)
12g.49951128G>TCA384772284AQP2c.298G>T (p.Gly100Ter)
12g.49951129G>ACA384772286AQP2c.299G>A (p.Gly100Glu)
12g.49951129G>CCA384772289AQP2c.299G>C (p.Gly100Ala)
gnomAD v4
12g.49951129G=CA2035390803AQP2c.299G= (p.Gly100=)
12g.49951129G>TCA127488AQP2c.299G>T (p.Gly100Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951130A=CA2035390808AQP2c.300A= (p.Gly100=)
12g.49951130A>CCA479584248AQP2c.300A>C (p.Gly100=)
12g.49951130A>GCA479584247AQP2c.300A>G (p.Gly100=)
dbSNP
12g.49951130A>TCA479584249AQP2c.300A>T (p.Gly100=)
12g.49951131G>ACA384772294AQP2c.301G>A (p.Ala101Thr)
dbSNP gnomAD v3 gnomAD v4
12g.49951131G>CCA384772293AQP2c.301G>C (p.Ala101Pro)
12g.49951131G=CA2035390810AQP2c.301G= (p.Ala101=)
12g.49951131G>TCA384772291AQP2c.301G>T (p.Ala101Ser)
12g.49951132C>ACA384772301AQP2c.302C>A (p.Ala101Asp)
12g.49951132C>GCA384772296AQP2c.302C>G (p.Ala101Gly)
12g.49951132C>TCA384772298AQP2c.302C>T (p.Ala101Val)
12g.49951133C>ACA479584251AQP2c.303C>A (p.Ala101=)
dbSNP gnomAD v2 gnomAD v4
12g.49951133C=CA2035390813AQP2c.303C= (p.Ala101=)
12g.49951133C>GCA479584252AQP2c.303C>G (p.Ala101=)
ClinVar dbSNP gnomAD v4
12g.49951133C>TCA6559193AQP2c.303C>T (p.Ala101=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951134G>ACA6559195AQP2c.304G>A (p.Ala102Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951134G>CCA384772305AQP2c.304G>C (p.Ala102Pro)
gnomAD v4
12g.49951134G=CA2035390817AQP2c.304G= (p.Ala102=)
12g.49951134G>TCA6559194AQP2c.304G>T (p.Ala102Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951135C>ACA384772308AQP2c.305C>A (p.Ala102Asp)
12g.49951135C>GCA384772310AQP2c.305C>G (p.Ala102Gly)
12g.49951135C>TCA384772312AQP2c.305C>T (p.Ala102Val)
12g.49951136T>ACA479584255AQP2c.306T>A (p.Ala102=)
dbSNP gnomAD v3 gnomAD v4
12g.49951136T>CCA479584256AQP2c.306T>C (p.Ala102=)
12g.49951136T>GCA479584257AQP2c.306T>G (p.Ala102=)
12g.49951136T=CA2035390821AQP2c.306T= (p.Ala102=)
12g.49951137C>ACA384772313AQP2c.307C>A (p.Leu103Met)
12g.49951137C=CA2035390823AQP2c.307C= (p.Leu103=)
12g.49951137C>GCA384772314AQP2c.307C>G (p.Leu103Val)
gnomAD v4
12g.49951137C>TCA479584258AQP2c.307C>T (p.Leu103=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49951138T>ACA384772317AQP2c.308T>A (p.Leu103Gln)
12g.49951138T>CCA384772319AQP2c.308T>C (p.Leu103Pro)
12g.49951138T>GCA384772320AQP2c.308T>G (p.Leu103Arg)
12g.49951139G>ACA479584259AQP2c.309G>A (p.Leu103=)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49951139G>CCA479584260AQP2c.309G>C (p.Leu103=)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49951139G=CA2035390825AQP2c.309G= (p.Leu103=)
12g.49951139G>TCA236731680AQP2c.309G>T (p.Leu103=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49951140C>ACA384772322AQP2c.310C>A (p.Leu104Ile)
gnomAD v4
12g.49951140C>GCA384772324AQP2c.310C>G (p.Leu104Val)
12g.49951140C>TCA384772326AQP2c.310C>T (p.Leu104Phe)
12g.49951141T>ACA384772327AQP2c.311T>A (p.Leu104His)
12g.49951141T>CCA384772329AQP2c.311T>C (p.Leu104Pro)
12g.49951141T>GCA384772331AQP2c.311T>G (p.Leu104Arg)
12g.49951142C>ACA479584262AQP2c.312C>A (p.Leu104=)
12g.49951142C=CA2035390827AQP2c.312C= (p.Leu104=)
12g.49951142C>GCA479584263AQP2c.312C>G (p.Leu104=)
12g.49951142C>TCA479584264AQP2c.312C>T (p.Leu104=)
ClinVar dbSNP
12g.49951143C>ACA384772333AQP2c.313C>A (p.His105Asn)
12g.49951143C>GCA384772335AQP2c.313C>G (p.His105Asp)
12g.49951143C>TCA384772336AQP2c.313C>T (p.His105Tyr)
12g.49951144A>CCA384772338AQP2c.314A>C (p.His105Pro)
12g.49951144A>GCA384772339AQP2c.314A>G (p.His105Arg)
gnomAD v4
12g.49951144A>TCA384772341AQP2c.314A>T (p.His105Leu)
12g.49951145T>ACA384772343AQP2c.315T>A (p.His105Gln)
12g.49951145T>CCA479584267AQP2c.315T>C (p.His105=)
ClinVar gnomAD v4
12g.49951145T>GCA384772345AQP2c.315T>G (p.His105Gln)
gnomAD v4
12g.49951146G>ACA384772349AQP2c.316G>A (p.Glu106Lys)
12g.49951146G>CCA384772350AQP2c.316G>C (p.Glu106Gln)
12g.49951146G>TCA384772347AQP2c.316G>T (p.Glu106Ter)
12g.49951147A>CCA384772353AQP2c.317A>C (p.Glu106Ala)
12g.49951147A>GCA384772357AQP2c.317A>G (p.Glu106Gly)
12g.49951147A>TCA384772355AQP2c.317A>T (p.Glu106Val)
12g.49951148G>ACA479584270AQP2c.318G>A (p.Glu106=)
12g.49951148G>CCA384772358AQP2c.318G>C (p.Glu106Asp)
12g.49951148G>TCA384772360AQP2c.318G>T (p.Glu106Asp)
12g.49951149A=CA2035390830AQP2c.319A= (p.Ile107=)
12g.49951149A>CCA6559196AQP2c.319A>C (p.Ile107Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49951149A>GCA384772362AQP2c.319A>G (p.Ile107Val)
12g.49951149A>TCA384772364AQP2c.319A>T (p.Ile107Phe)
12g.49951150T>ACA384772366AQP2c.320T>A (p.Ile107Asn)
12g.49951150T>CCA384772367AQP2c.320T>C (p.Ile107Thr)
dbSNP gnomAD v2 gnomAD v4
12g.49951150T>GCA384772369AQP2c.320T>G (p.Ile107Ser)
12g.49951150T=CA2035390833AQP2c.320T= (p.Ile107=)
12g.49951151C>ACA479584275AQP2c.321C>A (p.Ile107=)
12g.49951151C>GCA384772371AQP2c.321C>G (p.Ile107Met)
12g.49951151C>TCA479584276AQP2c.321C>T (p.Ile107=)
12g.49951152A>CCA384772373AQP2c.322A>C (p.Thr108Pro)
12g.49951152A>GCA384772375AQP2c.322A>G (p.Thr108Ala)
gnomAD v4
12g.49951152A>TCA384772377AQP2c.322A>T (p.Thr108Ser)
12g.49951153C>ACA384772379AQP2c.323C>A (p.Thr108Lys)
12g.49951153C=CA2035390835AQP2c.323C= (p.Thr108=)
12g.49951153C>GCA384772383AQP2c.323C>G (p.Thr108Arg)
12g.49951153C>TCA384772381AQP2c.323C>T (p.Thr108Met)
dbSNP gnomAD v2 gnomAD v4
12g.49951154G>ACA6559197AQP2c.324G>A (p.Thr108=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49951154G>CCA479584280AQP2c.324G>C (p.Thr108=)
12g.49951154G=CA2035390838AQP2c.324G= (p.Thr108=)
12g.49951154G>TCA479584282AQP2c.324G>T (p.Thr108=)

Number of alleles fetched