Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49950993C>ACA384772027AQP2c.163C>A (p.Leu55Met)
12g.49950993C=CA2035390547AQP2c.163C= (p.Leu55=)
12g.49950993C>GCA384772028AQP2c.163C>G (p.Leu55Val)
12g.49950993C>TCA6559157AQP2c.163C>T (p.Leu55=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950994T>ACA384772029AQP2c.164T>A (p.Leu55Gln)
12g.49950994T>CCA384772030AQP2c.164T>C (p.Leu55Pro)
gnomAD v4
12g.49950994T>GCA384772031AQP2c.164T>G (p.Leu55Arg)
12g.49950995G>ACA479584103AQP2c.165G>A (p.Leu55=)
12g.49950995G>CCA479584104AQP2c.165G>C (p.Leu55=)
12g.49950995G>TCA479584105AQP2c.165G>T (p.Leu55=)
12g.49950996G>ACA384772032AQP2c.166G>A (p.Val56Ile)
dbSNP gnomAD v2 gnomAD v4
12g.49950996G>CCA384772033AQP2c.166G>C (p.Val56Leu)
12g.49950996G=CA2035390552AQP2c.166G= (p.Val56=)
12g.49950996G>TCA384772034AQP2c.166G>T (p.Val56Leu)
COSMIC
12g.49950997T>ACA384772035AQP2c.167T>A (p.Val56Glu)
12g.49950997T>CCA384772036AQP2c.167T>C (p.Val56Ala)
12g.49950997T>GCA384772037AQP2c.167T>G (p.Val56Gly)
12g.49950998A=CA2035390557AQP2c.168A= (p.Val56=)
12g.49950998A>CCA479584106AQP2c.168A>C (p.Val56=)
12g.49950998A>GCA236731211AQP2c.168A>G (p.Val56=)
ClinVar dbSNP gnomAD v4
12g.49950998A>TCA479584107AQP2c.168A>T (p.Val56=)
gnomAD v4
12g.49950999C>ACA384772040AQP2c.169C>A (p.Gln57Lys)
12g.49950999C>GCA384772039AQP2c.169C>G (p.Gln57Glu)
12g.49950999C>TCA384772038AQP2c.169C>T (p.Gln57Ter)
12g.49951000A=CA2035390568AQP2c.170A= (p.Gln57=)
12g.49951000A>CCA127486AQP2c.170A>C (p.Gln57Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951000A>GCA384772041AQP2c.170A>G (p.Gln57Arg)
12g.49951000A>TCA384772042AQP2c.170A>T (p.Gln57Leu)
12g.49951001G>ACA479584108AQP2c.171G>A (p.Gln57=)
12g.49951001G>CCA384772043AQP2c.171G>C (p.Gln57His)
12g.49951001G>TCA384772044AQP2c.171G>T (p.Gln57His)
12g.49951002G>ACA6559158AQP2c.172G>A (p.Ala58Thr)
dbSNP ExAC gnomAD v4
12g.49951002G>CCA384772045AQP2c.172G>C (p.Ala58Pro)
12g.49951002G=CA2035390572AQP2c.172G= (p.Ala58=)
12g.49951002G>TCA384772046AQP2c.172G>T (p.Ala58Ser)
12g.49951003C>ACA384772047AQP2c.173C>A (p.Ala58Asp)
gnomAD v4
12g.49951003C=CA2035390579AQP2c.173C= (p.Ala58=)
12g.49951003C>GCA6559159AQP2c.173C>G (p.Ala58Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951003C>TCA384772048AQP2c.173C>T (p.Ala58Val)
12g.49951004T>ACA479584109AQP2c.174T>A (p.Ala58=)
12g.49951004T>CCA479584110AQP2c.174T>C (p.Ala58=)
12g.49951004T>GCA479584111AQP2c.174T>G (p.Ala58=)
12g.49951005C>ACA384772049AQP2c.175C>A (p.Leu59Met)
12g.49951005C>GCA384772050AQP2c.175C>G (p.Leu59Val)
12g.49951005C>TCA479584112AQP2c.175C>T (p.Leu59=)
gnomAD v4
12g.49951006T>ACA384772053AQP2c.176T>A (p.Leu59Gln)
12g.49951006T>CCA384772052AQP2c.176T>C (p.Leu59Pro)
12g.49951006T>GCA384772051AQP2c.176T>G (p.Leu59Arg)
12g.49951007G>ACA479584115AQP2c.177G>A (p.Leu59=)
ClinVar gnomAD v4
12g.49951007G>CCA479584113AQP2c.177G>C (p.Leu59=)
12g.49951007G>TCA479584114AQP2c.177G>T (p.Leu59=)
12g.49951008G>ACA236731254AQP2c.178G>A (p.Gly60Ser)
dbSNP COSMIC
12g.49951008G>CCA384772054AQP2c.178G>C (p.Gly60Arg)
12g.49951008G=CA2035390586AQP2c.178G= (p.Gly60=)
12g.49951008G>TCA384772055AQP2c.178G>T (p.Gly60Cys)
12g.49951009G>ACA384772056AQP2c.179G>A (p.Gly60Asp)
gnomAD v4
12g.49951009G>CCA384772057AQP2c.179G>C (p.Gly60Ala)
gnomAD v4
12g.49951009G>TCA384772058AQP2c.179G>T (p.Gly60Val)
12g.49951010C>ACA479584116AQP2c.180C>A (p.Gly60=)
gnomAD v4
12g.49951010C=CA2035390590AQP2c.180C= (p.Gly60=)
12g.49951010C>GCA479584117AQP2c.180C>G (p.Gly60=)
12g.49951010C>TCA6559160AQP2c.180C>T (p.Gly60=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951011C>ACA384772061AQP2c.181C>A (p.His61Asn)
12g.49951011C>GCA384772059AQP2c.181C>G (p.His61Asp)
12g.49951011C>TCA384772060AQP2c.181C>T (p.His61Tyr)
12g.49951012A>CCA384772062AQP2c.182A>C (p.His61Pro)
12g.49951012A>GCA384772063AQP2c.182A>G (p.His61Arg)
12g.49951012A>TCA384772064AQP2c.182A>T (p.His61Leu)
12g.49951013C>ACA384772065AQP2c.183C>A (p.His61Gln)
12g.49951013C>GCA384772066AQP2c.183C>G (p.His61Gln)
12g.49951013C>TCA479584118AQP2c.183C>T (p.His61=)
12g.49951014A=CA2035390593AQP2c.184A= (p.Ile62=)
12g.49951014A>CCA6559161AQP2c.184A>C (p.Ile62Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951014A>GCA384772067AQP2c.184A>G (p.Ile62Val)
gnomAD v4
12g.49951014A>TCA384772068AQP2c.184A>T (p.Ile62Leu)
12g.49951015T>ACA384772069AQP2c.185T>A (p.Ile62Lys)
dbSNP gnomAD v3 gnomAD v4
12g.49951015T>CCA384772070AQP2c.185T>C (p.Ile62Thr)
dbSNP gnomAD v2 gnomAD v4
12g.49951015T>GCA384772071AQP2c.185T>G (p.Ile62Arg)
12g.49951015T=CA2035390595AQP2c.185T= (p.Ile62=)
12g.49951016A>CCA479584119AQP2c.186A>C (p.Ile62=)
12g.49951016A>GCA384772072AQP2c.186A>G (p.Ile62Met)
12g.49951016A>TCA479584120AQP2c.186A>T (p.Ile62=)
ClinVar
12g.49951017A>CCA384772073AQP2c.187A>C (p.Ser63Arg)
12g.49951017A>GCA384772074AQP2c.187A>G (p.Ser63Gly)
12g.49951017A>TCA384772075AQP2c.187A>T (p.Ser63Cys)
gnomAD v4
12g.49951018G>ACA6559162AQP2c.188G>A (p.Ser63Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951018G>CCA384772076AQP2c.188G>C (p.Ser63Thr)
12g.49951018G=CA2035390599AQP2c.188G= (p.Ser63=)
12g.49951018G>TCA384772077AQP2c.188G>T (p.Ser63Ile)
12g.49951019C>ACA384772078AQP2c.189C>A (p.Ser63Arg)
dbSNP gnomAD v2 gnomAD v4
12g.49951019C=CA2035390606AQP2c.189C= (p.Ser63=)
12g.49951019C>GCA384772079AQP2c.189C>G (p.Ser63Arg)
12g.49951019C>TCA6559163AQP2c.189C>T (p.Ser63=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951020G>ACA127468AQP2c.190G>A (p.Gly64Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951020G>CCA384772080AQP2c.190G>C (p.Gly64Arg)
12g.49951020G=CA2035390612AQP2c.190G= (p.Gly64=)
12g.49951020G>TCA384772081AQP2c.190G>T (p.Gly64Trp)
12g.49951021G>ACA384772082AQP2c.191G>A (p.Gly64Glu)
12g.49951021G>CCA384772083AQP2c.191G>C (p.Gly64Ala)
12g.49951021G>TCA384772084AQP2c.191G>T (p.Gly64Val)
gnomAD v4
12g.49951022G>ACA236731317AQP2c.192G>A (p.Gly64=)
dbSNP
12g.49951022G>CCA479584121AQP2c.192G>C (p.Gly64=)
12g.49951022G=CA2035390615AQP2c.192G= (p.Gly64=)
12g.49951022G>TCA479584122AQP2c.192G>T (p.Gly64=)
12g.49951023G>ACA6559165AQP2c.193G>A (p.Ala65Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951023G>CCA6559164AQP2c.193G>C (p.Ala65Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49951023G=CA2035390616AQP2c.193G= (p.Ala65=)
12g.49951023G>TCA384772085AQP2c.193G>T (p.Ala65Ser)
12g.49951024C>ACA384772086AQP2c.194C>A (p.Ala65Asp)
12g.49951024C=CA2035390619AQP2c.194C= (p.Ala65=)
12g.49951024C>GCA384772087AQP2c.194C>G (p.Ala65Gly)
12g.49951024C>TCA236731352AQP2c.194C>T (p.Ala65Val)
dbSNP gnomAD v3 gnomAD v4
12g.49951025C>ACA479584123AQP2c.195C>A (p.Ala65=)
12g.49951025C>GCA479584124AQP2c.195C>G (p.Ala65=)
12g.49951025C>TCA479584125AQP2c.195C>T (p.Ala65=)
12g.49951026C>ACA384772088AQP2c.196C>A (p.His66Asn)
12g.49951026C=CA2035390620AQP2c.196C= (p.His66=)
12g.49951026C>GCA384772089AQP2c.196C>G (p.His66Asp)
gnomAD v4
12g.49951026C>TCA384772090AQP2c.196C>T (p.His66Tyr)
dbSNP gnomAD v2 gnomAD v4
12g.49951027A>CCA384772093AQP2c.197A>C (p.His66Pro)
12g.49951027A>GCA384772091AQP2c.197A>G (p.His66Arg)
12g.49951027A>TCA384772092AQP2c.197A>T (p.His66Leu)
12g.49951028C>ACA384772094AQP2c.198C>A (p.His66Gln)
12g.49951028C>GCA384772095AQP2c.198C>G (p.His66Gln)
12g.49951028C>TCA479584126AQP2c.198C>T (p.His66=)
12g.49951029A>CCA384772096AQP2c.199A>C (p.Ile67Leu)
12g.49951029A>GCA384772097AQP2c.199A>G (p.Ile67Val)
12g.49951029A>TCA384772098AQP2c.199A>T (p.Ile67Phe)
12g.49951030T>ACA384772099AQP2c.200T>A (p.Ile67Asn)
12g.49951030T>CCA6559166AQP2c.200T>C (p.Ile67Thr)
dbSNP ExAC gnomAD v4
12g.49951030T>GCA384772100AQP2c.200T>G (p.Ile67Ser)
12g.49951030T=CA2035390625AQP2c.200T= (p.Ile67=)
12g.49951031C>ACA479584127AQP2c.201C>A (p.Ile67=)
12g.49951031C>GCA384772101AQP2c.201C>G (p.Ile67Met)
12g.49951031C>TCA479584128AQP2c.201C>T (p.Ile67=)
12g.49951032A>CCA384772102AQP2c.202A>C (p.Asn68His)
12g.49951032A>GCA384772103AQP2c.202A>G (p.Asn68Asp)
12g.49951032A>TCA384772104AQP2c.202A>T (p.Asn68Tyr)
12g.49951033A=CA2035390626AQP2c.203A= (p.Asn68=)
12g.49951033A>CCA6559167AQP2c.203A>C (p.Asn68Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951033A>GCA127474AQP2c.203A>G (p.Asn68Ser)
ClinVar dbSNP
12g.49951033A>TCA384772105AQP2c.203A>T (p.Asn68Ile)
12g.49951034C>ACA384772106AQP2c.204C>A (p.Asn68Lys)
gnomAD v4
12g.49951034C=CA2035390635AQP2c.204C= (p.Asn68=)
12g.49951034C>GCA384772107AQP2c.204C>G (p.Asn68Lys)
12g.49951034C>TCA6559168AQP2c.204C>T (p.Asn68=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951035C>ACA384772108AQP2c.205C>A (p.Pro69Thr)
12g.49951035C>GCA384772109AQP2c.205C>G (p.Pro69Ala)
12g.49951035C>TCA384772110AQP2c.205C>T (p.Pro69Ser)
12g.49951036C>ACA384772111AQP2c.206C>A (p.Pro69His)
12g.49951036C>GCA384772112AQP2c.206C>G (p.Pro69Arg)
12g.49951036C>TCA384772113AQP2c.206C>T (p.Pro69Leu)
gnomAD v4
12g.49951037T>ACA479584129AQP2c.207T>A (p.Pro69=)
gnomAD v4
12g.49951037T>CCA479584130AQP2c.207T>C (p.Pro69=)
dbSNP
12g.49951037T>GCA479584131AQP2c.207T>G (p.Pro69=)
12g.49951038G>ACA384772114AQP2c.208G>A (p.Ala70Thr)
12g.49951038G>CCA384772115AQP2c.208G>C (p.Ala70Pro)
12g.49951038G>TCA384772116AQP2c.208G>T (p.Ala70Ser)
12g.49951039C>ACA384772117AQP2c.209C>A (p.Ala70Asp)
12g.49951039C>GCA384772118AQP2c.209C>G (p.Ala70Gly)
12g.49951039C>TCA384772119AQP2c.209C>T (p.Ala70Val)
COSMIC
12g.49951040C>ACA479584132AQP2c.210C>A (p.Ala70=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49951040C=CA2035390640AQP2c.210C= (p.Ala70=)
12g.49951040C>GCA479584133AQP2c.210C>G (p.Ala70=)
12g.49951040C>TCA6559169AQP2c.210C>T (p.Ala70=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49951041G>ACA236731400AQP2c.211G>A (p.Val71Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49951041G>CCA384772121AQP2c.211G>C (p.Val71Leu)
dbSNP gnomAD v3 gnomAD v4
12g.49951041G=CA2035390645AQP2c.211G= (p.Val71=)
12g.49951041G>TCA384772120AQP2c.211G>T (p.Val71Leu)
12g.49951042T>ACA384772122AQP2c.212T>A (p.Val71Glu)
12g.49951042T>CCA384772123AQP2c.212T>C (p.Val71Ala)
dbSNP
12g.49951042T>GCA384772124AQP2c.212T>G (p.Val71Gly)
12g.49951042T=CA2035390650AQP2c.212T= (p.Val71=)
12g.49951043G>ACA479584134AQP2c.213G>A (p.Val71=)
12g.49951043G>CCA479584135AQP2c.213G>C (p.Val71=)
12g.49951043G>TCA479584136AQP2c.213G>T (p.Val71=)
gnomAD v4
12g.49951044A>CCA384772125AQP2c.214A>C (p.Thr72Pro)
12g.49951044A>GCA384772126AQP2c.214A>G (p.Thr72Ala)
12g.49951044A>TCA384772127AQP2c.214A>T (p.Thr72Ser)
12g.49951045C>ACA384772128AQP2c.215C>A (p.Thr72Asn)
12g.49951045C>GCA384772129AQP2c.215C>G (p.Thr72Ser)
12g.49951045C>TCA384772130AQP2c.215C>T (p.Thr72Ile)
12g.49951045_49951047delinsCTGCA2035390652AQP2c.215_217delinsCTG (p.Thr72=)
12g.49951046T>ACA479584137AQP2c.216T>A (p.Thr72=)
12g.49951046T>CCA479584139AQP2c.216T>C (p.Thr72=)
12g.49951046T>GCA479584138AQP2c.216T>G (p.Thr72=)
12g.49951048_49951049delCA689626086AQP2c.218_219del (p.Val73GlyfsTer?)
dbSNP gnomAD v3 gnomAD v4
12g.49951047G>ACA384772133AQP2c.217G>A (p.Val73Met)
12g.49951047G>CCA384772132AQP2c.217G>C (p.Val73Leu)
12g.49951047G>TCA384772131AQP2c.217G>T (p.Val73Leu)
12g.49951048T>ACA384772134AQP2c.218T>A (p.Val73Glu)
12g.49951048T>CCA384772135AQP2c.218T>C (p.Val73Ala)
12g.49951048T>GCA384772136AQP2c.218T>G (p.Val73Gly)
12g.49951049G>ACA479584140AQP2c.219G>A (p.Val73=)
gnomAD v4
12g.49951049G>CCA479584141AQP2c.219G>C (p.Val73=)
12g.49951049G>TCA479584142AQP2c.219G>T (p.Val73=)
12g.49951050G>ACA384772137AQP2c.220G>A (p.Ala74Thr)
gnomAD v4
12g.49951050G>CCA384772138AQP2c.220G>C (p.Ala74Pro)
12g.49951050G>TCA384772139AQP2c.220G>T (p.Ala74Ser)
12g.49951051C>ACA384772140AQP2c.221C>A (p.Ala74Asp)
12g.49951051C>GCA384772141AQP2c.221C>G (p.Ala74Gly)
12g.49951051C>TCA384772142AQP2c.221C>T (p.Ala74Val)
12g.49951052C>ACA479584143AQP2c.222C>A (p.Ala74=)
12g.49951052C>GCA479584144AQP2c.222C>G (p.Ala74=)
12g.49951052C>TCA479584145AQP2c.222C>T (p.Ala74=)
ClinVar gnomAD v4
12g.49951053T>ACA384772143AQP2c.223T>A (p.Cys75Ser)
12g.49951053T>CCA384772144AQP2c.223T>C (p.Cys75Arg)
12g.49951053T>GCA260118AQP2c.223T>G (p.Cys75Gly)
ClinVar dbSNP
12g.49951053T=CA2035390659AQP2c.223T= (p.Cys75=)
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

Number of alleles fetched