12 | g.49951040C>A | CA479584132 | AQP2 | c.210C>A (p.Ala70=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951040C= | CA2035390640 | AQP2 | c.210C= (p.Ala70=)
| |
12 | g.49951040C>G | CA479584133 | AQP2 | c.210C>G (p.Ala70=)
| |
12 | g.49951040C>T | CA6559169 | AQP2 | c.210C>T (p.Ala70=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951041G>A | CA236731400 | AQP2 | c.211G>A (p.Val71Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951041G>C | CA384772121 | AQP2 | c.211G>C (p.Val71Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951041G= | CA2035390645 | AQP2 | c.211G= (p.Val71=)
| |
12 | g.49951041G>T | CA384772120 | AQP2 | c.211G>T (p.Val71Leu)
| |
12 | g.49951042T>A | CA384772122 | AQP2 | c.212T>A (p.Val71Glu)
| |
12 | g.49951042T>C | CA384772123 | AQP2 | c.212T>C (p.Val71Ala)
| dbSNP |
12 | g.49951042T>G | CA384772124 | AQP2 | c.212T>G (p.Val71Gly)
| |
12 | g.49951042T= | CA2035390650 | AQP2 | c.212T= (p.Val71=)
| |
12 | g.49951043G>A | CA479584134 | AQP2 | c.213G>A (p.Val71=)
| |
12 | g.49951043G>C | CA479584135 | AQP2 | c.213G>C (p.Val71=)
| |
12 | g.49951043G>T | CA479584136 | AQP2 | c.213G>T (p.Val71=)
| gnomAD v4 |
12 | g.49951044A>C | CA384772125 | AQP2 | c.214A>C (p.Thr72Pro)
| |
12 | g.49951044A>G | CA384772126 | AQP2 | c.214A>G (p.Thr72Ala)
| |
12 | g.49951044A>T | CA384772127 | AQP2 | c.214A>T (p.Thr72Ser)
| |
12 | g.49951045C>A | CA384772128 | AQP2 | c.215C>A (p.Thr72Asn)
| |
12 | g.49951045C>G | CA384772129 | AQP2 | c.215C>G (p.Thr72Ser)
| |
12 | g.49951045C>T | CA384772130 | AQP2 | c.215C>T (p.Thr72Ile)
| |
12 | g.49951045_49951047delinsCTG | CA2035390652 | AQP2 | c.215_217delinsCTG (p.Thr72=)
| |
12 | g.49951046T>A | CA479584137 | AQP2 | c.216T>A (p.Thr72=)
| |
12 | g.49951046T>C | CA479584139 | AQP2 | c.216T>C (p.Thr72=)
| |
12 | g.49951046T>G | CA479584138 | AQP2 | c.216T>G (p.Thr72=)
| |
12 | g.49951048_49951049del | CA689626086 | AQP2 | c.218_219del (p.Val73GlyfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951047G>A | CA384772133 | AQP2 | c.217G>A (p.Val73Met)
| |
12 | g.49951047G>C | CA384772132 | AQP2 | c.217G>C (p.Val73Leu)
| |
12 | g.49951047G>T | CA384772131 | AQP2 | c.217G>T (p.Val73Leu)
| |
12 | g.49951048T>A | CA384772134 | AQP2 | c.218T>A (p.Val73Glu)
| |
12 | g.49951048T>C | CA384772135 | AQP2 | c.218T>C (p.Val73Ala)
| |
12 | g.49951048T>G | CA384772136 | AQP2 | c.218T>G (p.Val73Gly)
| |
12 | g.49951049G>A | CA479584140 | AQP2 | c.219G>A (p.Val73=)
| gnomAD v4 |
12 | g.49951049G>C | CA479584141 | AQP2 | c.219G>C (p.Val73=)
| |
12 | g.49951049G>T | CA479584142 | AQP2 | c.219G>T (p.Val73=)
| |
12 | g.49951050G>A | CA384772137 | AQP2 | c.220G>A (p.Ala74Thr)
| gnomAD v4 |
12 | g.49951050G>C | CA384772138 | AQP2 | c.220G>C (p.Ala74Pro)
| |
12 | g.49951050G>T | CA384772139 | AQP2 | c.220G>T (p.Ala74Ser)
| |
12 | g.49951051C>A | CA384772140 | AQP2 | c.221C>A (p.Ala74Asp)
| |
12 | g.49951051C>G | CA384772141 | AQP2 | c.221C>G (p.Ala74Gly)
| |
12 | g.49951051C>T | CA384772142 | AQP2 | c.221C>T (p.Ala74Val)
| |
12 | g.49951052C>A | CA479584143 | AQP2 | c.222C>A (p.Ala74=)
| |
12 | g.49951052C>G | CA479584144 | AQP2 | c.222C>G (p.Ala74=)
| |
12 | g.49951052C>T | CA479584145 | AQP2 | c.222C>T (p.Ala74=)
| ClinVar gnomAD v4 |
12 | g.49951053T>A | CA384772143 | AQP2 | c.223T>A (p.Cys75Ser)
| |
12 | g.49951053T>C | CA384772144 | AQP2 | c.223T>C (p.Cys75Arg)
| |
12 | g.49951053T>G | CA260118 | AQP2 | c.223T>G (p.Cys75Gly)
| ClinVar dbSNP |
12 | g.49951053T= | CA2035390659 | AQP2 | c.223T= (p.Cys75=)
| |
12 | g.49951054G>A | CA236731436 | AQP2 | c.224G>A (p.Cys75Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951054G>C | CA236731443 | AQP2 | c.224G>C (p.Cys75Ser)
| dbSNP |
12 | g.49951054G= | CA2035390666 | AQP2 | c.224G= (p.Cys75=)
| |
12 | g.49951054G>T | CA384772145 | AQP2 | c.224G>T (p.Cys75Phe)
| COSMIC |
12 | g.49951055C>A | CA384772146 | AQP2 | c.225C>A (p.Cys75Ter)
| |
12 | g.49951055C= | CA2035390668 | AQP2 | c.225C= (p.Cys75=)
| |
12 | g.49951055C>G | CA384772147 | AQP2 | c.225C>G (p.Cys75Trp)
| |
12 | g.49951055C>T | CA236731455 | AQP2 | c.225C>T (p.Cys75=)
| dbSNP |
12 | g.49951056C>A | CA384772148 | AQP2 | c.226C>A (p.Leu76Met)
| |
12 | g.49951056C>G | CA384772149 | AQP2 | c.226C>G (p.Leu76Val)
| |
12 | g.49951056C>T | CA479584147 | AQP2 | c.226C>T (p.Leu76=)
| |
12 | g.49951057T>A | CA384772150 | AQP2 | c.227T>A (p.Leu76Gln)
| |
12 | g.49951057T>C | CA384772151 | AQP2 | c.227T>C (p.Leu76Pro)
| |
12 | g.49951057T>G | CA384772152 | AQP2 | c.227T>G (p.Leu76Arg)
| |
12 | g.49951058G>A | CA479584148 | AQP2 | c.228G>A (p.Leu76=)
| gnomAD v4 |
12 | g.49951058G>C | CA479584149 | AQP2 | c.228G>C (p.Leu76=)
| gnomAD v4 |
12 | g.49951058G>T | CA479584150 | AQP2 | c.228G>T (p.Leu76=)
| |
12 | g.49951059G>A | CA384772154 | AQP2 | c.229G>A (p.Val77Met)
| gnomAD v4 |
12 | g.49951059G>C | CA384772155 | AQP2 | c.229G>C (p.Val77Leu)
| |
12 | g.49951059G>T | CA384772156 | AQP2 | c.229G>T (p.Val77Leu)
| COSMIC |
12 | g.49951060T>A | CA384772157 | AQP2 | c.230T>A (p.Val77Glu)
| |
12 | g.49951060T>C | CA384772158 | AQP2 | c.230T>C (p.Val77Ala)
| |
12 | g.49951060T>G | CA384772159 | AQP2 | c.230T>G (p.Val77Gly)
| |
12 | g.49951061G>A | CA479584152 | AQP2 | c.231G>A (p.Val77=)
| dbSNP COSMIC |
12 | g.49951061G>C | CA479584153 | AQP2 | c.231G>C (p.Val77=)
| |
12 | g.49951061G= | CA2035390670 | AQP2 | c.231G= (p.Val77=)
| |
12 | g.49951061G>T | CA479584154 | AQP2 | c.231G>T (p.Val77=)
| dbSNP |
12 | g.49951062G>A | CA6559170 | AQP2 | c.232G>A (p.Gly78Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951062G>C | CA384772161 | AQP2 | c.232G>C (p.Gly78Arg)
| gnomAD v4 |
12 | g.49951062G= | CA2035390675 | AQP2 | c.232G= (p.Gly78=)
| |
12 | g.49951062G>T | CA384772160 | AQP2 | c.232G>T (p.Gly78Cys)
| |
12 | g.49951063G>A | CA384772162 | AQP2 | c.233G>A (p.Gly78Asp)
| |
12 | g.49951063G>C | CA384772164 | AQP2 | c.233G>C (p.Gly78Ala)
| gnomAD v4 |
12 | g.49951063G>T | CA384772163 | AQP2 | c.233G>T (p.Gly78Val)
| |
12 | g.49951064C>A | CA479584156 | AQP2 | c.234C>A (p.Gly78=)
| ClinVar |
12 | g.49951064C= | CA2035390677 | AQP2 | c.234C= (p.Gly78=)
| |
12 | g.49951064C>G | CA479584157 | AQP2 | c.234C>G (p.Gly78=)
| |
12 | g.49951064C>T | CA236731461 | AQP2 | c.234C>T (p.Gly78=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951065T>A | CA384772165 | AQP2 | c.235T>A (p.Cys79Ser)
| |
12 | g.49951065T>C | CA384772167 | AQP2 | c.235T>C (p.Cys79Arg)
| |
12 | g.49951065T>G | CA384772166 | AQP2 | c.235T>G (p.Cys79Gly)
| |
12 | g.49951066G>A | CA384772168 | AQP2 | c.236G>A (p.Cys79Tyr)
| |
12 | g.49951066G>C | CA384772169 | AQP2 | c.236G>C (p.Cys79Ser)
| |
12 | g.49951066G>T | CA384772170 | AQP2 | c.236G>T (p.Cys79Phe)
| |
12 | g.49951067C>A | CA384772171 | AQP2 | c.237C>A (p.Cys79Ter)
| |
12 | g.49951067C= | CA2035390682 | AQP2 | c.237C= (p.Cys79=)
| |
12 | g.49951067C>G | CA384772172 | AQP2 | c.237C>G (p.Cys79Trp)
| |
12 | g.49951067C>T | CA6559171 | AQP2 | c.237C>T (p.Cys79=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951068C>A | CA384772173 | AQP2 | c.238C>A (p.His80Asn)
| |
12 | g.49951068C>G | CA384772174 | AQP2 | c.238C>G (p.His80Asp)
| |
12 | g.49951068C>T | CA384772175 | AQP2 | c.238C>T (p.His80Tyr)
| |
12 | g.49951069A>C | CA384772176 | AQP2 | c.239A>C (p.His80Pro)
| |
12 | g.49951069A>G | CA384772177 | AQP2 | c.239A>G (p.His80Arg)
| gnomAD v4 |
12 | g.49951069A>T | CA384772178 | AQP2 | c.239A>T (p.His80Leu)
| gnomAD v4 |
12 | g.49951070del | CA2580086375 | AQP2 | c.240del (p.His80GlnfsTer?)
| ClinVar |
12 | g.49951070C>A | CA384772180 | AQP2 | c.240C>A (p.His80Gln)
| gnomAD v4 |
12 | g.49951070C= | CA2035390685 | AQP2 | c.240C= (p.His80=)
| |
12 | g.49951070C>G | CA384772179 | AQP2 | c.240C>G (p.His80Gln)
| |
12 | g.49951070C>T | CA6559172 | AQP2 | c.240C>T (p.His80=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951071del | CA2575150911 | AQP2 | c.241del (p.Val81SerfsTer?)
| |
12 | g.49951071G>A | CA6559173 | AQP2 | c.241G>A (p.Val81Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49951071G>C | CA384772181 | AQP2 | c.241G>C (p.Val81Leu)
| |
12 | g.49951071G= | CA2035390688 | AQP2 | c.241G= (p.Val81=)
| |
12 | g.49951071G>T | CA384772182 | AQP2 | c.241G>T (p.Val81Phe)
| |
12 | g.49951072T>A | CA384772183 | AQP2 | c.242T>A (p.Val81Asp)
| gnomAD v4 |
12 | g.49951072T>C | CA236731483 | AQP2 | c.242T>C (p.Val81Ala)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951072T>G | CA384772184 | AQP2 | c.242T>G (p.Val81Gly)
| |
12 | g.49951072T= | CA2035390691 | AQP2 | c.242T= (p.Val81=)
| |
12 | g.49951073C>A | CA479584164 | AQP2 | c.243C>A (p.Val81=)
| |
12 | g.49951073C>G | CA479584165 | AQP2 | c.243C>G (p.Val81=)
| gnomAD v4 |
12 | g.49951073C>T | CA479584166 | AQP2 | c.243C>T (p.Val81=)
| |
12 | g.49951074T>A | CA384772185 | AQP2 | c.244T>A (p.Ser82Thr)
| |
12 | g.49951074T>C | CA384772186 | AQP2 | c.244T>C (p.Ser82Pro)
| |
12 | g.49951074T>G | CA384772187 | AQP2 | c.244T>G (p.Ser82Ala)
| |
12 | g.49951075C>A | CA384772188 | AQP2 | c.245C>A (p.Ser82Tyr)
| |
12 | g.49951075C= | CA2035390695 | AQP2 | c.245C= (p.Ser82=)
| |
12 | g.49951075C>G | CA384772189 | AQP2 | c.245C>G (p.Ser82Cys)
| |
12 | g.49951075C>T | CA236731485 | AQP2 | c.245C>T (p.Ser82Phe)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951076C>A | CA479584167 | AQP2 | c.246C>A (p.Ser82=)
| |
12 | g.49951076C= | CA2035390698 | AQP2 | c.246C= (p.Ser82=)
| |
12 | g.49951076C>G | CA479584169 | AQP2 | c.246C>G (p.Ser82=)
| ClinVar dbSNP |
12 | g.49951076C>T | CA6559174 | AQP2 | c.246C>T (p.Ser82=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49951077G>A | CA6559175 | AQP2 | c.247G>A (p.Val83Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951077G>C | CA384772190 | AQP2 | c.247G>C (p.Val83Leu)
| gnomAD v4 |
12 | g.49951077G= | CA2035390701 | AQP2 | c.247G= (p.Val83=)
| |
12 | g.49951077G>T | CA384772191 | AQP2 | c.247G>T (p.Val83Phe)
| dbSNP |
12 | g.49951078T>A | CA384772192 | AQP2 | c.248T>A (p.Val83Asp)
| |
12 | g.49951078T>C | CA384772193 | AQP2 | c.248T>C (p.Val83Ala)
| |
12 | g.49951078T>G | CA384772194 | AQP2 | c.248T>G (p.Val83Gly)
| |
12 | g.49951079T>A | CA479584170 | AQP2 | c.249T>A (p.Val83=)
| |
12 | g.49951079T>C | CA479584171 | AQP2 | c.249T>C (p.Val83=)
| |
12 | g.49951079T>G | CA479584173 | AQP2 | c.249T>G (p.Val83=)
| |
12 | g.49951080C>A | CA384772195 | AQP2 | c.250C>A (p.Leu84Ile)
| |
12 | g.49951080C>G | CA384772196 | AQP2 | c.250C>G (p.Leu84Val)
| |
12 | g.49951080C>T | CA384772197 | AQP2 | c.250C>T (p.Leu84Phe)
| |
12 | g.49951081T>A | CA384772198 | AQP2 | c.251T>A (p.Leu84His)
| |
12 | g.49951081T>C | CA384772199 | AQP2 | c.251T>C (p.Leu84Pro)
| |
12 | g.49951081T>G | CA6559176 | AQP2 | c.251T>G (p.Leu84Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951081T= | CA2035390704 | AQP2 | c.251T= (p.Leu84=)
| |
12 | g.49951082C>A | CA479584176 | AQP2 | c.252C>A (p.Leu84=)
| |
12 | g.49951082C>G | CA479584177 | AQP2 | c.252C>G (p.Leu84=)
| |
12 | g.49951082C>T | CA479584178 | AQP2 | c.252C>T (p.Leu84=)
| COSMIC |
12 | g.49951083C>A | CA479584180 | AQP2 | c.253C>A (p.Arg85=)
| |
12 | g.49951083C= | CA2035390709 | AQP2 | c.253C= (p.Arg85=)
| |
12 | g.49951083C>G | CA384772200 | AQP2 | c.253C>G (p.Arg85Gly)
| |
12 | g.49951083C>T | CA6559177 | AQP2 | c.253C>T (p.Arg85Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.49951084G>A | CA384772203 | AQP2 | c.254G>A (p.Arg85Gln)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951084G>C | CA384772201 | AQP2 | c.254G>C (p.Arg85Pro)
| |
12 | g.49951084G= | CA2035390711 | AQP2 | c.254G= (p.Arg85=)
| |
12 | g.49951084G>T | CA384772202 | AQP2 | c.254G>T (p.Arg85Leu)
| |
12 | g.49951085A= | CA2035390715 | AQP2 | c.255A= (p.Arg85=)
| |
12 | g.49951085A>C | CA479584181 | AQP2 | c.255A>C (p.Arg85=)
| |
12 | g.49951085A>G | CA479584182 | AQP2 | c.255A>G (p.Arg85=)
| ClinVar dbSNP |
12 | g.49951085A>T | CA6559178 | AQP2 | c.255A>T (p.Arg85=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951086G>A | CA6559179 | AQP2 | c.256G>A (p.Ala86Thr)
| dbSNP ExAC gnomAD v2 |
12 | g.49951086G>C | CA384772204 | AQP2 | c.256G>C (p.Ala86Pro)
| |
12 | g.49951086G= | CA2035390719 | AQP2 | c.256G= (p.Ala86=)
| |
12 | g.49951086G>T | CA384772205 | AQP2 | c.256G>T (p.Ala86Ser)
| |
12 | g.49951087C>A | CA384772206 | AQP2 | c.257C>A (p.Ala86Asp)
| |
12 | g.49951087C= | CA2035390721 | AQP2 | c.257C= (p.Ala86=)
| |
12 | g.49951087C>G | CA384772207 | AQP2 | c.257C>G (p.Ala86Gly)
| |
12 | g.49951087C>T | CA384772208 | AQP2 | c.257C>T (p.Ala86Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951088C>A | CA479584186 | AQP2 | c.258C>A (p.Ala86=)
| |
12 | g.49951088C= | CA2035390725 | AQP2 | c.258C= (p.Ala86=)
| |
12 | g.49951088C>G | CA479584187 | AQP2 | c.258C>G (p.Ala86=)
| |
12 | g.49951088C>T | CA6559180 | AQP2 | c.258C>T (p.Ala86=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951088_49951111delinsCGCCTTCTACGTGGCTGCCCAGCT | CA2035390726 | AQP2 | c.258_281delinsCGCCTTCTACGTGGCTGCCCAGCT (p.Ala86=)
| |
12 | g.49951089G>A | CA6559181 | AQP2 | c.259G>A (p.Ala87Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.49951089G>C | CA384772209 | AQP2 | c.259G>C (p.Ala87Pro)
| |
12 | g.49951089G= | CA2035390733 | AQP2 | c.259G= (p.Ala87=)
| |
12 | g.49951089G>T | CA384772210 | AQP2 | c.259G>T (p.Ala87Ser)
| |
12 | g.49951091_49951113del | CA689626206 | AQP2 | c.261_283del (p.Phe88GlyfsTer11)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951090C>A | CA384772211 | AQP2 | c.260C>A (p.Ala87Asp)
| |
12 | g.49951090C= | CA2035390737 | AQP2 | c.260C= (p.Ala87=)
| |
12 | g.49951090C>G | CA384772213 | AQP2 | c.260C>G (p.Ala87Gly)
| |
12 | g.49951090C>T | CA384772212 | AQP2 | c.260C>T (p.Ala87Val)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951091C>A | CA479584188 | AQP2 | c.261C>A (p.Ala87=)
| |
12 | g.49951091C>G | CA479584189 | AQP2 | c.261C>G (p.Ala87=)
| |
12 | g.49951091C>T | CA479584190 | AQP2 | c.261C>T (p.Ala87=)
| |
12 | g.49951092T>A | CA384772214 | AQP2 | c.262T>A (p.Phe88Ile)
| |
12 | g.49951092T>C | CA384772215 | AQP2 | c.262T>C (p.Phe88Leu)
| |
12 | g.49951092T>G | CA6559182 | AQP2 | c.262T>G (p.Phe88Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951092T= | CA2035390739 | AQP2 | c.262T= (p.Phe88=)
| |
12 | g.49951093T>A | CA384772216 | AQP2 | c.263T>A (p.Phe88Tyr)
| |
12 | g.49951093T>C | CA384772217 | AQP2 | c.263T>C (p.Phe88Ser)
| |
12 | g.49951093T>G | CA384772218 | AQP2 | c.263T>G (p.Phe88Cys)
| COSMIC |
12 | g.49951094C>A | CA384772219 | AQP2 | c.264C>A (p.Phe88Leu)
| |
12 | g.49951094C>G | CA384772220 | AQP2 | c.264C>G (p.Phe88Leu)
| |
12 | g.49951094C>T | CA479584193 | AQP2 | c.264C>T (p.Phe88=)
| |
12 | g.49951095T>A | CA384772221 | AQP2 | c.265T>A (p.Tyr89Asn)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951095T>C | CA384772222 | AQP2 | c.265T>C (p.Tyr89His)
| |
12 | g.49951095T>G | CA384772223 | AQP2 | c.265T>G (p.Tyr89Asp)
| |
12 | g.49951095T= | CA2035390741 | AQP2 | c.265T= (p.Tyr89=)
| |
12 | g.49951096A= | CA2035390745 | AQP2 | c.266A= (p.Tyr89=)
| |
12 | g.49951096A>C | CA384772224 | AQP2 | c.266A>C (p.Tyr89Ser)
| |
12 | g.49951096A>G | CA236731571 | AQP2 | c.266A>G (p.Tyr89Cys)
| dbSNP gnomAD v4 |
12 | g.49951096A>T | CA384772225 | AQP2 | c.266A>T (p.Tyr89Phe)
| |
12 | g.49951097C>A | CA384772226 | AQP2 | c.267C>A (p.Tyr89Ter)
| COSMIC |
12 | g.49951097C= | CA2035390749 | AQP2 | c.267C= (p.Tyr89=)
| |
12 | g.49951097C>G | CA384772227 | AQP2 | c.267C>G (p.Tyr89Ter)
| |
12 | g.49951097C>T | CA6559183 | AQP2 | c.267C>T (p.Tyr89=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951098G>A | CA6559184 | AQP2 | c.268G>A (p.Val90Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49951098G>C | CA384772228 | AQP2 | c.268G>C (p.Val90Leu)
| |
12 | g.49951098G= | CA2035390752 | AQP2 | c.268G= (p.Val90=)
| |
12 | g.49951098G>T | CA384772229 | AQP2 | c.268G>T (p.Val90Leu)
| |
12 | g.49951099T>A | CA384772230 | AQP2 | c.269T>A (p.Val90Glu)
| |
12 | g.49951099T>C | CA6559185 | AQP2 | c.269T>C (p.Val90Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951099T>G | CA384772231 | AQP2 | c.269T>G (p.Val90Gly)
| |
12 | g.49951099T= | CA2035390753 | AQP2 | c.269T= (p.Val90=)
| |
12 | g.49951100G>A | CA479584198 | AQP2 | c.270G>A (p.Val90=)
| |
12 | g.49951100G>C | CA479584200 | AQP2 | c.270G>C (p.Val90=)
| |
12 | g.49951100G= | CA2035390754 | AQP2 | c.270G= (p.Val90=)
| |
12 | g.49951100G>T | CA479584199 | AQP2 | c.270G>T (p.Val90=)
| dbSNP gnomAD v4 |
12 | g.49951101G>A | CA384772232 | AQP2 | c.271G>A (p.Ala91Thr)
| gnomAD v4 |
12 | g.49951101G>C | CA384772233 | AQP2 | c.271G>C (p.Ala91Pro)
| |
12 | g.49951101G>T | CA384772234 | AQP2 | c.271G>T (p.Ala91Ser)
| gnomAD v4 COSMIC |
12 | g.49951102C>A | CA384772236 | AQP2 | c.272C>A (p.Ala91Asp)
| |
12 | g.49951102C= | CA2035390756 | AQP2 | c.272C= (p.Ala91=)
| |
12 | g.49951102C>G | CA384772237 | AQP2 | c.272C>G (p.Ala91Gly)
| |
12 | g.49951102C>T | CA384772235 | AQP2 | c.272C>T (p.Ala91Val)
| dbSNP gnomAD v4 |
12 | g.49951103T>A | CA479584205 | AQP2 | c.273T>A (p.Ala91=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951103T>C | CA479584206 | AQP2 | c.273T>C (p.Ala91=)
| ClinVar dbSNP |
12 | g.49951103T>G | CA6559186 | AQP2 | c.273T>G (p.Ala91=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951103T= | CA2035390759 | AQP2 | c.273T= (p.Ala91=)
| |
12 | g.49951104G>A | CA384772238 | AQP2 | c.274G>A (p.Ala92Thr)
| |
12 | g.49951104G>C | CA384772239 | AQP2 | c.274G>C (p.Ala92Pro)
| |
12 | g.49951104G>T | CA384772240 | AQP2 | c.274G>T (p.Ala92Ser)
| |
12 | g.49951105C>A | CA384772241 | AQP2 | c.275C>A (p.Ala92Asp)
| gnomAD v4 |
12 | g.49951105C= | CA2035390761 | AQP2 | c.275C= (p.Ala92=)
| |
12 | g.49951105C>G | CA384772242 | AQP2 | c.275C>G (p.Ala92Gly)
| |
12 | g.49951105C>T | CA384772243 | AQP2 | c.275C>T (p.Ala92Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951106C>A | CA236731613 | AQP2 | c.276C>A (p.Ala92=)
| ClinVar dbSNP |
12 | g.49951106C= | CA2035390766 | AQP2 | c.276C= (p.Ala92=)
| |
12 | g.49951106C>G | CA6559187 | AQP2 | c.276C>G (p.Ala92=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951106C>T | CA479584209 | AQP2 | c.276C>T (p.Ala92=)
| |
12 | g.49951107C>A | CA384772244 | AQP2 | c.277C>A (p.Gln93Lys)
| |
12 | g.49951107C= | CA2035390771 | AQP2 | c.277C= (p.Gln93=)
| |
12 | g.49951107C>G | CA384772245 | AQP2 | c.277C>G (p.Gln93Glu)
| |
12 | g.49951107C>T | CA6559188 | AQP2 | c.277C>T (p.Gln93Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951108A>C | CA384772248 | AQP2 | c.278A>C (p.Gln93Pro)
| |
12 | g.49951108A>G | CA384772246 | AQP2 | c.278A>G (p.Gln93Arg)
| |
12 | g.49951108A>T | CA384772247 | AQP2 | c.278A>T (p.Gln93Leu)
| |
12 | g.49951109G>A | CA479584213 | AQP2 | c.279G>A (p.Gln93=)
| |
12 | g.49951109G>C | CA384772249 | AQP2 | c.279G>C (p.Gln93His)
| gnomAD v4 |
12 | g.49951109G>T | CA384772250 | AQP2 | c.279G>T (p.Gln93His)
| |
12 | g.49951110C>A | CA384772251 | AQP2 | c.280C>A (p.Leu94Met)
| dbSNP gnomAD v2 |
12 | g.49951110C= | CA2035390774 | AQP2 | c.280C= (p.Leu94=)
| |
12 | g.49951110C>G | CA384772252 | AQP2 | c.280C>G (p.Leu94Val)
| gnomAD v4 |
12 | g.49951110C>T | CA479584215 | AQP2 | c.280C>T (p.Leu94=)
| |
12 | g.49951111T>A | CA384772253 | AQP2 | c.281T>A (p.Leu94Gln)
| |
12 | g.49951111T>C | CA384772254 | AQP2 | c.281T>C (p.Leu94Pro)
| |
12 | g.49951111T>G | CA384772255 | AQP2 | c.281T>G (p.Leu94Arg)
| |
12 | g.49951112G>A | CA479584218 | AQP2 | c.282G>A (p.Leu94=)
| |
12 | g.49951112G>C | CA479584219 | AQP2 | c.282G>C (p.Leu94=)
| gnomAD v4 |
12 | g.49951112G>T | CA479584220 | AQP2 | c.282G>T (p.Leu94=)
| |
12 | g.49951113C>A | CA384772256 | AQP2 | c.283C>A (p.Leu95Met)
| |
12 | g.49951113C= | CA2035390776 | AQP2 | c.283C= (p.Leu95=)
| |
12 | g.49951113C>G | CA384772257 | AQP2 | c.283C>G (p.Leu95Val)
| dbSNP |
12 | g.49951113C>T | CA479584221 | AQP2 | c.283C>T (p.Leu95=)
| |
12 | g.49951113_49951115delinsCTG | CA2035390777 | AQP2 | c.283_285delinsCTG (p.Leu95=)
| |
12 | g.49951114T>A | CA384772258 | AQP2 | c.284T>A (p.Leu95Gln)
| |
12 | g.49951114T>C | CA384772259 | AQP2 | c.284T>C (p.Leu95Pro)
| |
12 | g.49951114T>G | CA384772260 | AQP2 | c.284T>G (p.Leu95Arg)
| |
12 | g.49951114_49951115del | CA6559189 | AQP2 | c.284_285del (p.Leu95ArgfsTer11)
| dbSNP ExAC gnomAD v2 |
12 | g.49951115G>A | CA479584223 | AQP2 | c.285G>A (p.Leu95=)
| gnomAD v4 |
12 | g.49951115G>C | CA479584224 | AQP2 | c.285G>C (p.Leu95=)
| gnomAD v4 |
12 | g.49951115G>T | CA479584225 | AQP2 | c.285G>T (p.Leu95=)
| |
12 | g.49951119dup | CA2618691151 | AQP2 | c.289dup (p.Ala97GlyfsTer10)
| gnomAD v4 |
12 | g.49951119del | CA2795926928 | AQP2 | c.289del (p.Ala97LeufsTer?)
| |
12 | g.49951116G>A | CA384772262 | AQP2 | c.286G>A (p.Gly96Arg)
| |
12 | g.49951116G>C | CA384772263 | AQP2 | c.286G>C (p.Gly96Arg)
| |
12 | g.49951116G= | CA2035390781 | AQP2 | c.286G= (p.Gly96=)
| |
12 | g.49951116G>T | CA384772261 | AQP2 | c.286G>T (p.Gly96Trp)
| dbSNP gnomAD v2 |
12 | g.49951117G>A | CA384772266 | AQP2 | c.287G>A (p.Gly96Glu)
| ClinVar |
12 | g.49951117G>C | CA384772264 | AQP2 | c.287G>C (p.Gly96Ala)
| |
12 | g.49951117G>T | CA384772265 | AQP2 | c.287G>T (p.Gly96Val)
| |
12 | g.49951118G>A | CA479584227 | AQP2 | c.288G>A (p.Gly96=)
| |
12 | g.49951118G>C | CA479584228 | AQP2 | c.288G>C (p.Gly96=)
| gnomAD v4 |
12 | g.49951118G= | CA2035390783 | AQP2 | c.288G= (p.Gly96=)
| |
12 | g.49951118G>T | CA6559190 | AQP2 | c.288G>T (p.Gly96=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951119G>A | CA384772267 | AQP2 | c.289G>A (p.Ala97Thr)
| |
12 | g.49951119G>C | CA384772268 | AQP2 | c.289G>C (p.Ala97Pro)
| |
12 | g.49951119G>T | CA384772269 | AQP2 | c.289G>T (p.Ala97Ser)
| gnomAD v4 |
12 | g.49951120del | CA2618691158 | AQP2 | c.290del (p.Ala97ValfsTer?)
| gnomAD v4 |
12 | g.49951120C>A | CA384772270 | AQP2 | c.290C>A (p.Ala97Asp)
| |
12 | g.49951120C>G | CA384772271 | AQP2 | c.290C>G (p.Ala97Gly)
| |
12 | g.49951120C>T | CA384772272 | AQP2 | c.290C>T (p.Ala97Val)
| |
12 | g.49951121T>A | CA479584233 | AQP2 | c.291T>A (p.Ala97=)
| |
12 | g.49951121T>C | CA479584234 | AQP2 | c.291T>C (p.Ala97=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951121T>G | CA479584235 | AQP2 | c.291T>G (p.Ala97=)
| |
12 | g.49951121T= | CA2035390784 | AQP2 | c.291T= (p.Ala97=)
| |
12 | g.49951122G>A | CA6559191 | AQP2 | c.292G>A (p.Val98Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951122G>C | CA384772273 | AQP2 | c.292G>C (p.Val98Leu)
| |
12 | g.49951122G= | CA2035390786 | AQP2 | c.292G= (p.Val98=)
| |
12 | g.49951122G>T | CA6559192 | AQP2 | c.292G>T (p.Val98Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951123T>A | CA384772276 | AQP2 | c.293T>A (p.Val98Glu)
| |
12 | g.49951123T>C | CA384772274 | AQP2 | c.293T>C (p.Val98Ala)
| |
12 | g.49951123T>G | CA384772275 | AQP2 | c.293T>G (p.Val98Gly)
| |
12 | g.49951124G>A | CA479584241 | AQP2 | c.294G>A (p.Val98=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951124G>C | CA479584238 | AQP2 | c.294G>C (p.Val98=)
| |
12 | g.49951124G= | CA2035390790 | AQP2 | c.294G= (p.Val98=)
| |
12 | g.49951124G>T | CA479584240 | AQP2 | c.294G>T (p.Val98=)
| |
12 | g.49951125dup | CA2842437305 | AQP2 | c.295dup (p.Ala99GlyfsTer8)
| |
12 | g.49951125G>A | CA236731640 | AQP2 | c.295G>A (p.Ala99Thr)
| dbSNP gnomAD v4 |
12 | g.49951125G>C | CA384772277 | AQP2 | c.295G>C (p.Ala99Pro)
| |
12 | g.49951125G= | CA2035390793 | AQP2 | c.295G= (p.Ala99=)
| |
12 | g.49951125G>T | CA384772278 | AQP2 | c.295G>T (p.Ala99Ser)
| |
12 | g.49951126C>A | CA384772279 | AQP2 | c.296C>A (p.Ala99Asp)
| |
12 | g.49951126C>G | CA384772280 | AQP2 | c.296C>G (p.Ala99Gly)
| |
12 | g.49951126C>T | CA384772281 | AQP2 | c.296C>T (p.Ala99Val)
| gnomAD v4 |
12 | g.49951127C>A | CA479584242 | AQP2 | c.297C>A (p.Ala99=)
| ClinVar gnomAD v4 |
12 | g.49951127C= | CA2035390798 | AQP2 | c.297C= (p.Ala99=)
| |
12 | g.49951127C>G | CA236731655 | AQP2 | c.297C>G (p.Ala99=)
| ClinVar dbSNP gnomAD v4 |
12 | g.49951127C>T | CA479584245 | AQP2 | c.297C>T (p.Ala99=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49951128G>A | CA384772282 | AQP2 | c.298G>A (p.Gly100Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.49951128G>C | CA384772283 | AQP2 | c.298G>C (p.Gly100Arg)
| |
12 | g.49951128G= | CA2035390800 | AQP2 | c.298G= (p.Gly100=)
| |
12 | g.49951128G>T | CA384772284 | AQP2 | c.298G>T (p.Gly100Ter)
| |
12 | g.49951129G>A | CA384772286 | AQP2 | c.299G>A (p.Gly100Glu)
| |
12 | g.49951129G>C | CA384772289 | AQP2 | c.299G>C (p.Gly100Ala)
| gnomAD v4 |
12 | g.49951129G= | CA2035390803 | AQP2 | c.299G= (p.Gly100=)
| |
12 | g.49951129G>T | CA127488 | AQP2 | c.299G>T (p.Gly100Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951130A= | CA2035390808 | AQP2 | c.300A= (p.Gly100=)
| |
12 | g.49951130A>C | CA479584248 | AQP2 | c.300A>C (p.Gly100=)
| |
12 | g.49951130A>G | CA479584247 | AQP2 | c.300A>G (p.Gly100=)
| dbSNP |
12 | g.49951130A>T | CA479584249 | AQP2 | c.300A>T (p.Gly100=)
| |
12 | g.49951131G>A | CA384772294 | AQP2 | c.301G>A (p.Ala101Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951131G>C | CA384772293 | AQP2 | c.301G>C (p.Ala101Pro)
| |
12 | g.49951131G= | CA2035390810 | AQP2 | c.301G= (p.Ala101=)
| |
12 | g.49951131G>T | CA384772291 | AQP2 | c.301G>T (p.Ala101Ser)
| |
12 | g.49951132C>A | CA384772301 | AQP2 | c.302C>A (p.Ala101Asp)
| |
12 | g.49951132C>G | CA384772296 | AQP2 | c.302C>G (p.Ala101Gly)
| |
12 | g.49951132C>T | CA384772298 | AQP2 | c.302C>T (p.Ala101Val)
| |
12 | g.49951133C>A | CA479584251 | AQP2 | c.303C>A (p.Ala101=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951133C= | CA2035390813 | AQP2 | c.303C= (p.Ala101=)
| |
12 | g.49951133C>G | CA479584252 | AQP2 | c.303C>G (p.Ala101=)
| ClinVar dbSNP gnomAD v4 |
12 | g.49951133C>T | CA6559193 | AQP2 | c.303C>T (p.Ala101=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951134G>A | CA6559195 | AQP2 | c.304G>A (p.Ala102Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951134G>C | CA384772305 | AQP2 | c.304G>C (p.Ala102Pro)
| gnomAD v4 |
12 | g.49951134G= | CA2035390817 | AQP2 | c.304G= (p.Ala102=)
| |
12 | g.49951134G>T | CA6559194 | AQP2 | c.304G>T (p.Ala102Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951135C>A | CA384772308 | AQP2 | c.305C>A (p.Ala102Asp)
| |
12 | g.49951135C>G | CA384772310 | AQP2 | c.305C>G (p.Ala102Gly)
| |
12 | g.49951135C>T | CA384772312 | AQP2 | c.305C>T (p.Ala102Val)
| |
12 | g.49951136T>A | CA479584255 | AQP2 | c.306T>A (p.Ala102=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951136T>C | CA479584256 | AQP2 | c.306T>C (p.Ala102=)
| |
12 | g.49951136T>G | CA479584257 | AQP2 | c.306T>G (p.Ala102=)
| |
12 | g.49951136T= | CA2035390821 | AQP2 | c.306T= (p.Ala102=)
| |
12 | g.49951137C>A | CA384772313 | AQP2 | c.307C>A (p.Leu103Met)
| |
12 | g.49951137C= | CA2035390823 | AQP2 | c.307C= (p.Leu103=)
| |
12 | g.49951137C>G | CA384772314 | AQP2 | c.307C>G (p.Leu103Val)
| gnomAD v4 |
12 | g.49951137C>T | CA479584258 | AQP2 | c.307C>T (p.Leu103=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951138T>A | CA384772317 | AQP2 | c.308T>A (p.Leu103Gln)
| |
12 | g.49951138T>C | CA384772319 | AQP2 | c.308T>C (p.Leu103Pro)
| |
12 | g.49951138T>G | CA384772320 | AQP2 | c.308T>G (p.Leu103Arg)
| |
12 | g.49951139G>A | CA479584259 | AQP2 | c.309G>A (p.Leu103=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951139G>C | CA479584260 | AQP2 | c.309G>C (p.Leu103=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951139G= | CA2035390825 | AQP2 | c.309G= (p.Leu103=)
| |
12 | g.49951139G>T | CA236731680 | AQP2 | c.309G>T (p.Leu103=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951140C>A | CA384772322 | AQP2 | c.310C>A (p.Leu104Ile)
| gnomAD v4 |
12 | g.49951140C>G | CA384772324 | AQP2 | c.310C>G (p.Leu104Val)
| |
12 | g.49951140C>T | CA384772326 | AQP2 | c.310C>T (p.Leu104Phe)
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