Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49950954C>ACA384771820AQP2c.124C>A (p.Leu42Ile)
12g.49950954C=CA2035390461AQP2c.124C= (p.Leu42=)
12g.49950954C>GCA384771822AQP2c.124C>G (p.Leu42Val)
dbSNP
12g.49950954C>TCA479583890AQP2c.124C>T (p.Leu42=)
12g.49950955T>ACA384771824AQP2c.125T>A (p.Leu42Gln)
12g.49950955T>CCA6559149AQP2c.125T>C (p.Leu42Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950955T>GCA384771825AQP2c.125T>G (p.Leu42Arg)
12g.49950955T=CA2035390464AQP2c.125T= (p.Leu42=)
12g.49950955_49950957delinsTACCA2035390465AQP2c.125_127delinsTAC (p.Leu42=)
12g.49950956A=CA2035390468AQP2c.126A= (p.Leu42=)
12g.49950956A>CCA479583897AQP2c.126A>C (p.Leu42=)
12g.49950956A>GCA479583899AQP2c.126A>G (p.Leu42=)
dbSNP gnomAD v2 gnomAD v4
12g.49950956A>TCA479583901AQP2c.126A>T (p.Leu42=)
12g.49950957_49950958delCA604909796AQP2c.127_128del (p.Gln43AspfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49950957C>ACA384771827AQP2c.127C>A (p.Gln43Lys)
12g.49950957C=CA2035390473AQP2c.127C= (p.Gln43=)
12g.49950957C>GCA384771828AQP2c.127C>G (p.Gln43Glu)
gnomAD v4
12g.49950957C>TCA384771830AQP2c.127C>T (p.Gln43Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49950958A=CA2035390477AQP2c.128A= (p.Gln43=)
12g.49950958A>CCA6559150AQP2c.128A>C (p.Gln43Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950958A>GCA6559151AQP2c.128A>G (p.Gln43Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950958A>TCA384771834AQP2c.128A>T (p.Gln43Leu)
12g.49950959G>ACA479583910AQP2c.129G>A (p.Gln43=)
ClinVar dbSNP
12g.49950959G>CCA384771835AQP2c.129G>C (p.Gln43His)
12g.49950959G>TCA384771837AQP2c.129G>T (p.Gln43His)
12g.49950960A>CCA384771958AQP2c.130A>C (p.Ile44Leu)
12g.49950960A>GCA384771956AQP2c.130A>G (p.Ile44Val)
12g.49950960A>TCA384771957AQP2c.130A>T (p.Ile44Phe)
12g.49950961T>ACA384771959AQP2c.131T>A (p.Ile44Asn)
12g.49950961T>CCA384771960AQP2c.131T>C (p.Ile44Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49950961T>GCA384771961AQP2c.131T>G (p.Ile44Ser)
12g.49950961T=CA2035390481AQP2c.131T= (p.Ile44=)
12g.49950962T>ACA479584081AQP2c.132T>A (p.Ile44=)
12g.49950962T>CCA479584082AQP2c.132T>C (p.Ile44=)
12g.49950962T>GCA384771962AQP2c.132T>G (p.Ile44Met)
12g.49950963G>ACA384771963AQP2c.133G>A (p.Ala45Thr)
dbSNP gnomAD v4
12g.49950963G>CCA384771964AQP2c.133G>C (p.Ala45Pro)
12g.49950963G=CA2035390486AQP2c.133G= (p.Ala45=)
12g.49950963G>TCA384771965AQP2c.133G>T (p.Ala45Ser)
12g.49950964C>ACA384771966AQP2c.134C>A (p.Ala45Asp)
12g.49950964C=CA2035390489AQP2c.134C= (p.Ala45=)
12g.49950964C>GCA384771967AQP2c.134C>G (p.Ala45Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49950964C>TCA384771968AQP2c.134C>T (p.Ala45Val)
12g.49950965C>ACA479584083AQP2c.135C>A (p.Ala45=)
12g.49950965C=CA2035390493AQP2c.135C= (p.Ala45=)
12g.49950965C>GCA479584084AQP2c.135C>G (p.Ala45=)
12g.49950965C>TCA479584085AQP2c.135C>T (p.Ala45=)
ClinVar dbSNP
12g.49950966A=CA2035390496AQP2c.136A= (p.Met46=)
12g.49950966A>CCA384771969AQP2c.136A>C (p.Met46Leu)
12g.49950966A>GCA384771970AQP2c.136A>G (p.Met46Val)
12g.49950966A>TCA6559152AQP2c.136A>T (p.Met46Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950967T>ACA384771971AQP2c.137T>A (p.Met46Lys)
12g.49950967T>CCA384771972AQP2c.137T>C (p.Met46Thr)
12g.49950967T>GCA384771973AQP2c.137T>G (p.Met46Arg)
12g.49950968G>ACA6559153AQP2c.138G>A (p.Met46Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950968G>CCA384771974AQP2c.138G>C (p.Met46Ile)
12g.49950968G=CA2035390500AQP2c.138G= (p.Met46=)
12g.49950968G>TCA384771975AQP2c.138G>T (p.Met46Ile)
12g.49950969G>ACA384771976AQP2c.139G>A (p.Ala47Thr)
12g.49950969G>CCA384771978AQP2c.139G>C (p.Ala47Pro)
12g.49950969G>TCA384771977AQP2c.139G>T (p.Ala47Ser)
12g.49950970C>ACA384771979AQP2c.140C>A (p.Ala47Glu)
dbSNP gnomAD v2 gnomAD v4
12g.49950970C=CA2035390505AQP2c.140C= (p.Ala47=)
12g.49950970C>GCA384771980AQP2c.140C>G (p.Ala47Gly)
12g.49950970C>TCA236731189AQP2c.140C>T (p.Ala47Val)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.49950971G>ACA6559154AQP2c.141G>A (p.Ala47=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950971G>CCA479584086AQP2c.141G>C (p.Ala47=)
12g.49950971G=CA2035390511AQP2c.141G= (p.Ala47=)
12g.49950971G>TCA479584087AQP2c.141G>T (p.Ala47=)
gnomAD v4
12g.49950972T>ACA384771981AQP2c.142T>A (p.Phe48Ile)
dbSNP gnomAD v2 gnomAD v4
12g.49950972T>CCA384771983AQP2c.142T>C (p.Phe48Leu)
12g.49950972T>GCA384771982AQP2c.142T>G (p.Phe48Val)
12g.49950972T=CA2035390514AQP2c.142T= (p.Phe48=)
12g.49950973T>ACA384771984AQP2c.143T>A (p.Phe48Tyr)
12g.49950973T>CCA384771985AQP2c.143T>C (p.Phe48Ser)
12g.49950973T>GCA384771986AQP2c.143T>G (p.Phe48Cys)
12g.49950973_49950976delinsTTGGCA2035390516AQP2c.143_146delinsTTGG (p.Phe48=)
12g.49950974T>ACA384771987AQP2c.144T>A (p.Phe48Leu)
12g.49950974T>CCA479584088AQP2c.144T>C (p.Phe48=)
12g.49950974T>GCA384771988AQP2c.144T>G (p.Phe48Leu)
12g.49950974_49950976delCA605235881AQP2c.144_146del (p.Gly49del)
dbSNP gnomAD v2 gnomAD v4
12g.49950975G>ACA384771989AQP2c.145G>A (p.Gly49Ser)
12g.49950975G>CCA384771990AQP2c.145G>C (p.Gly49Arg)
12g.49950975G>TCA384771991AQP2c.145G>T (p.Gly49Cys)
12g.49950976G>ACA384771992AQP2c.146G>A (p.Gly49Asp)
gnomAD v4
12g.49950976G>CCA384771993AQP2c.146G>C (p.Gly49Ala)
12g.49950976G>TCA384771994AQP2c.146G>T (p.Gly49Val)
12g.49950977C>ACA479584089AQP2c.147C>A (p.Gly49=)
12g.49950977C>GCA479584090AQP2c.147C>G (p.Gly49=)
12g.49950977C>TCA479584091AQP2c.147C>T (p.Gly49=)
12g.49950978T>ACA384771996AQP2c.148T>A (p.Leu50Met)
12g.49950978T>CCA479584092AQP2c.148T>C (p.Leu50=)
12g.49950978T>GCA384771995AQP2c.148T>G (p.Leu50Val)
12g.49950979T>ACA384771997AQP2c.149T>A (p.Leu50Ter)
12g.49950979T>CCA384771999AQP2c.149T>C (p.Leu50Ser)
12g.49950979T>GCA384771998AQP2c.149T>G (p.Leu50Trp)
12g.49950980G>ACA6559155AQP2c.150G>A (p.Leu50=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950980G>CCA384772000AQP2c.150G>C (p.Leu50Phe)
12g.49950980G=CA2035390520AQP2c.150G= (p.Leu50=)
12g.49950980G>TCA384772001AQP2c.150G>T (p.Leu50Phe)
COSMIC
12g.49950981G>ACA384772002AQP2c.151G>A (p.Gly51Ser)
gnomAD v4
12g.49950981G>CCA384772003AQP2c.151G>C (p.Gly51Arg)
12g.49950981G>TCA384772004AQP2c.151G>T (p.Gly51Cys)
gnomAD v4 COSMIC
12g.49950982G>ACA384772005AQP2c.152G>A (p.Gly51Asp)
12g.49950982G>CCA384772006AQP2c.152G>C (p.Gly51Ala)
12g.49950982G=CA2035390521AQP2c.152G= (p.Gly51=)
12g.49950982G>TCA384772007AQP2c.152G>T (p.Gly51Val)
gnomAD v4
12g.49950983T>ACA479584095AQP2c.153T>A (p.Gly51=)
12g.49950983T>CCA479584093AQP2c.153T>C (p.Gly51=)
12g.49950983T>GCA479584094AQP2c.153T>G (p.Gly51=)
dbSNP gnomAD v4
12g.49950983T=CA2035390526AQP2c.153T= (p.Gly51=)
12g.49950983dupCA916082357AQP2c.153dup (p.Ile52TyrfsTer?)
ClinVar dbSNP
12g.49950984A>CCA384772008AQP2c.154A>C (p.Ile52Leu)
12g.49950984A>GCA384772009AQP2c.154A>G (p.Ile52Val)
12g.49950984A>TCA384772010AQP2c.154A>T (p.Ile52Phe)
12g.49950985T>ACA384772011AQP2c.155T>A (p.Ile52Asn)
12g.49950985T>CCA384772013AQP2c.155T>C (p.Ile52Thr)
ClinVar dbSNP gnomAD v4
12g.49950985T>GCA384772012AQP2c.155T>G (p.Ile52Ser)
12g.49950986T>ACA479584096AQP2c.156T>A (p.Ile52=)
12g.49950986T>CCA479584097AQP2c.156T>C (p.Ile52=)
dbSNP
12g.49950986T>GCA384772014AQP2c.156T>G (p.Ile52Met)
12g.49950986T=CA2035390530AQP2c.156T= (p.Ile52=)
12g.49950987G>ACA384772015AQP2c.157G>A (p.Gly53Ser)
12g.49950987G>CCA384772016AQP2c.157G>C (p.Gly53Arg)
12g.49950987G=CA2035390533AQP2c.157G= (p.Gly53=)
12g.49950987G>TCA384772017AQP2c.157G>T (p.Gly53Cys)
dbSNP
12g.49950988G>ACA384772018AQP2c.158G>A (p.Gly53Asp)
12g.49950988G>CCA384772019AQP2c.158G>C (p.Gly53Ala)
12g.49950988G>TCA384772020AQP2c.158G>T (p.Gly53Val)
12g.49950989C>ACA479584098AQP2c.159C>A (p.Gly53=)
gnomAD v4
12g.49950989C>GCA479584099AQP2c.159C>G (p.Gly53=)
12g.49950989C>TCA479584100AQP2c.159C>T (p.Gly53=)
COSMIC
12g.49950990A=CA2035390537AQP2c.160A= (p.Thr54=)
12g.49950990A>CCA384772021AQP2c.160A>C (p.Thr54Pro)
dbSNP
12g.49950990A>GCA384772022AQP2c.160A>G (p.Thr54Ala)
12g.49950990A>TCA384772023AQP2c.160A>T (p.Thr54Ser)
12g.49950991C>ACA384772025AQP2c.161C>A (p.Thr54Asn)
dbSNP
12g.49950991C=CA2035390540AQP2c.161C= (p.Thr54=)
12g.49950991C>GCA384772026AQP2c.161C>G (p.Thr54Ser)
12g.49950991C>TCA384772024AQP2c.161C>T (p.Thr54Ile)
dbSNP gnomAD v3 gnomAD v4
12g.49950992C>ACA479584101AQP2c.162C>A (p.Thr54=)
dbSNP gnomAD v4
12g.49950992C=CA2035390543AQP2c.162C= (p.Thr54=)
12g.49950992C>GCA6559156AQP2c.162C>G (p.Thr54=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950992C>TCA479584102AQP2c.162C>T (p.Thr54=)
ClinVar dbSNP gnomAD v3 gnomAD v4
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

Number of alleles fetched