12 | g.49950918_49950941delinsTCTGCCCTCAACTGGCCACAGGCC | CA2035390385 | AQP2 | c.88_111delinsTCTGCCCTCAACTGGCCACAGGCC (p.Ser30=)
| |
12 | g.49950927_49950949del | CA6559143 | AQP2 | c.97_119del (p.Asn33CysfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950929C>A | CA384771729 | AQP2 | c.99C>A (p.Asn33Lys)
| |
12 | g.49950929C>G | CA384771731 | AQP2 | c.99C>G (p.Asn33Lys)
| |
12 | g.49950929C>T | CA479583796 | AQP2 | c.99C>T (p.Asn33=)
| ClinVar gnomAD v4 |
12 | g.49950930T>A | CA384771733 | AQP2 | c.100T>A (p.Trp34Arg)
| |
12 | g.49950930T>C | CA384771735 | AQP2 | c.100T>C (p.Trp34Arg)
| gnomAD v4 |
12 | g.49950930T>G | CA384771736 | AQP2 | c.100T>G (p.Trp34Gly)
| |
12 | g.49950931G>A | CA384771738 | AQP2 | c.101G>A (p.Trp34Ter)
| gnomAD v4 |
12 | g.49950931G>C | CA384771740 | AQP2 | c.101G>C (p.Trp34Ser)
| |
12 | g.49950931G>T | CA384771742 | AQP2 | c.101G>T (p.Trp34Leu)
| COSMIC |
12 | g.49950932G>A | CA6559145 | AQP2 | c.102G>A (p.Trp34Ter)
| dbSNP ExAC gnomAD v2 |
12 | g.49950932G>C | CA384771746 | AQP2 | c.102G>C (p.Trp34Cys)
| |
12 | g.49950932G= | CA2035390414 | AQP2 | c.102G= (p.Trp34=)
| |
12 | g.49950932G>T | CA384771744 | AQP2 | c.102G>T (p.Trp34Cys)
| gnomAD v4 |
12 | g.49950932_49950934del | CA2580086371 | AQP2 | c.102_104del (p.Trp34Ter)
| ClinVar |
12 | g.49950933C>A | CA6559146 | AQP2 | c.103C>A (p.Pro35Thr)
| dbSNP ExAC gnomAD v2 |
12 | g.49950933C= | CA2035390419 | AQP2 | c.103C= (p.Pro35=)
| |
12 | g.49950933C>G | CA384771748 | AQP2 | c.103C>G (p.Pro35Ala)
| gnomAD v4 |
12 | g.49950933C>T | CA384771749 | AQP2 | c.103C>T (p.Pro35Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950934C>A | CA384771751 | AQP2 | c.104C>A (p.Pro35Gln)
| |
12 | g.49950934C>G | CA384771753 | AQP2 | c.104C>G (p.Pro35Arg)
| |
12 | g.49950934C>T | CA384771755 | AQP2 | c.104C>T (p.Pro35Leu)
| |
12 | g.49950935A>C | CA479583813 | AQP2 | c.105A>C (p.Pro35=)
| |
12 | g.49950935A>G | CA479583815 | AQP2 | c.105A>G (p.Pro35=)
| |
12 | g.49950935A>T | CA479583817 | AQP2 | c.105A>T (p.Pro35=)
| |
12 | g.49950936C>A | CA384771759 | AQP2 | c.106C>A (p.Gln36Lys)
| |
12 | g.49950936C= | CA2035390426 | AQP2 | c.106C= (p.Gln36=)
| |
12 | g.49950936C>G | CA384771757 | AQP2 | c.106C>G (p.Gln36Glu)
| |
12 | g.49950936C>T | CA384771758 | AQP2 | c.106C>T (p.Gln36Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49950937A= | CA2035390430 | AQP2 | c.107A= (p.Gln36=)
| |
12 | g.49950937A>C | CA384771761 | AQP2 | c.107A>C (p.Gln36Pro)
| |
12 | g.49950937A>G | CA384771762 | AQP2 | c.107A>G (p.Gln36Arg)
| dbSNP gnomAD v4 |
12 | g.49950937A>T | CA384771764 | AQP2 | c.107A>T (p.Gln36Leu)
| |
12 | g.49950938G>A | CA479583826 | AQP2 | c.108G>A (p.Gln36=)
| |
12 | g.49950938G>C | CA384771766 | AQP2 | c.108G>C (p.Gln36His)
| |
12 | g.49950938G>T | CA384771767 | AQP2 | c.108G>T (p.Gln36His)
| |
12 | g.49950939G>A | CA384771769 | AQP2 | c.109G>A (p.Ala37Thr)
| |
12 | g.49950939G>C | CA384771772 | AQP2 | c.109G>C (p.Ala37Pro)
| |
12 | g.49950939G= | CA2035390433 | AQP2 | c.109G= (p.Ala37=)
| |
12 | g.49950939G>T | CA384771771 | AQP2 | c.109G>T (p.Ala37Ser)
| dbSNP |
12 | g.49950940C>A | CA384771775 | AQP2 | c.110C>A (p.Ala37Asp)
| |
12 | g.49950940C= | CA2035390442 | AQP2 | c.110C= (p.Ala37=)
| |
12 | g.49950940C>G | CA384771776 | AQP2 | c.110C>G (p.Ala37Gly)
| |
12 | g.49950940C>T | CA384771777 | AQP2 | c.110C>T (p.Ala37Val)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49950942del | CA2618690854 | AQP2 | c.112del (p.Leu38CysfsTer25)
| gnomAD v4 |
12 | g.49950941C>A | CA6559147 | AQP2 | c.111C>A (p.Ala37=)
| dbSNP ExAC gnomAD v2 |
12 | g.49950941C= | CA2035390445 | AQP2 | c.111C= (p.Ala37=)
| |
12 | g.49950941C>G | CA479583838 | AQP2 | c.111C>G (p.Ala37=)
| |
12 | g.49950941C>T | CA479583836 | AQP2 | c.111C>T (p.Ala37=)
| ClinVar |
12 | g.49950942C>A | CA384771781 | AQP2 | c.112C>A (p.Leu38Met)
| |
12 | g.49950942C>G | CA384771783 | AQP2 | c.112C>G (p.Leu38Val)
| gnomAD v4 |
12 | g.49950942C>T | CA479583843 | AQP2 | c.112C>T (p.Leu38=)
| ClinVar |
12 | g.49950943T>A | CA384771784 | AQP2 | c.113T>A (p.Leu38Gln)
| |
12 | g.49950943T>C | CA384771786 | AQP2 | c.113T>C (p.Leu38Pro)
| |
12 | g.49950943T>G | CA384771787 | AQP2 | c.113T>G (p.Leu38Arg)
| |
12 | g.49950944G>A | CA6559148 | AQP2 | c.114G>A (p.Leu38=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.49950944G>C | CA479583851 | AQP2 | c.114G>C (p.Leu38=)
| |
12 | g.49950944G= | CA2035390447 | AQP2 | c.114G= (p.Leu38=)
| |
12 | g.49950944G>T | CA479583849 | AQP2 | c.114G>T (p.Leu38=)
| |
12 | g.49950945C>A | CA384771792 | AQP2 | c.115C>A (p.Pro39Thr)
| |
12 | g.49950945C>G | CA384771790 | AQP2 | c.115C>G (p.Pro39Ala)
| |
12 | g.49950945C>T | CA384771788 | AQP2 | c.115C>T (p.Pro39Ser)
| gnomAD v4 |
12 | g.49950946C>A | CA384771794 | AQP2 | c.116C>A (p.Pro39His)
| dbSNP gnomAD v4 |
12 | g.49950946C= | CA2035390450 | AQP2 | c.116C= (p.Pro39=)
| |
12 | g.49950946C>G | CA384771798 | AQP2 | c.116C>G (p.Pro39Arg)
| |
12 | g.49950946C>T | CA384771796 | AQP2 | c.116C>T (p.Pro39Leu)
| |
12 | g.49950947C>A | CA479583860 | AQP2 | c.117C>A (p.Pro39=)
| |
12 | g.49950947C>G | CA479583861 | AQP2 | c.117C>G (p.Pro39=)
| |
12 | g.49950947C>T | CA479583863 | AQP2 | c.117C>T (p.Pro39=)
| ClinVar dbSNP |
12 | g.49950948T>A | CA384771800 | AQP2 | c.118T>A (p.Ser40Thr)
| |
12 | g.49950948T>C | CA384771803 | AQP2 | c.118T>C (p.Ser40Pro)
| |
12 | g.49950948T>G | CA384771801 | AQP2 | c.118T>G (p.Ser40Ala)
| |
12 | g.49950949C>A | CA384771804 | AQP2 | c.119C>A (p.Ser40Tyr)
| |
12 | g.49950949C>G | CA384771807 | AQP2 | c.119C>G (p.Ser40Cys)
| ClinVar |
12 | g.49950949C>T | CA384771806 | AQP2 | c.119C>T (p.Ser40Phe)
| |
12 | g.49950950T>A | CA479583872 | AQP2 | c.120T>A (p.Ser40=)
| |
12 | g.49950950T>C | CA479583873 | AQP2 | c.120T>C (p.Ser40=)
| |
12 | g.49950950T>G | CA479583875 | AQP2 | c.120T>G (p.Ser40=)
| |
12 | g.49950951G>A | CA384771808 | AQP2 | c.121G>A (p.Val41Met)
| |
12 | g.49950951G>C | CA384771812 | AQP2 | c.121G>C (p.Val41Leu)
| dbSNP |
12 | g.49950951G= | CA2035390454 | AQP2 | c.121G= (p.Val41=)
| |
12 | g.49950951G>T | CA384771810 | AQP2 | c.121G>T (p.Val41Leu)
| |
12 | g.49950952T>A | CA384771814 | AQP2 | c.122T>A (p.Val41Glu)
| |
12 | g.49950952T>C | CA384771818 | AQP2 | c.122T>C (p.Val41Ala)
| |
12 | g.49950952T>G | CA384771816 | AQP2 | c.122T>G (p.Val41Gly)
| |
12 | g.49950953G>A | CA479583883 | AQP2 | c.123G>A (p.Val41=)
| gnomAD v4 |
12 | g.49950953G>C | CA479583885 | AQP2 | c.123G>C (p.Val41=)
| |
12 | g.49950953G>T | CA479583886 | AQP2 | c.123G>T (p.Val41=)
| |
12 | g.49950954C>A | CA384771820 | AQP2 | c.124C>A (p.Leu42Ile)
| |
12 | g.49950954C= | CA2035390461 | AQP2 | c.124C= (p.Leu42=)
| |
12 | g.49950954C>G | CA384771822 | AQP2 | c.124C>G (p.Leu42Val)
| dbSNP |
12 | g.49950954C>T | CA479583890 | AQP2 | c.124C>T (p.Leu42=)
| |
12 | g.49950955T>A | CA384771824 | AQP2 | c.125T>A (p.Leu42Gln)
| |
12 | g.49950955T>C | CA6559149 | AQP2 | c.125T>C (p.Leu42Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950955T>G | CA384771825 | AQP2 | c.125T>G (p.Leu42Arg)
| |
12 | g.49950955T= | CA2035390464 | AQP2 | c.125T= (p.Leu42=)
| |
12 | g.49950955_49950957delinsTAC | CA2035390465 | AQP2 | c.125_127delinsTAC (p.Leu42=)
| |
12 | g.49950956A= | CA2035390468 | AQP2 | c.126A= (p.Leu42=)
| |
12 | g.49950956A>C | CA479583897 | AQP2 | c.126A>C (p.Leu42=)
| |
12 | g.49950956A>G | CA479583899 | AQP2 | c.126A>G (p.Leu42=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950956A>T | CA479583901 | AQP2 | c.126A>T (p.Leu42=)
| |
12 | g.49950957_49950958del | CA604909796 | AQP2 | c.127_128del (p.Gln43AspfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950957C>A | CA384771827 | AQP2 | c.127C>A (p.Gln43Lys)
| |
12 | g.49950957C= | CA2035390473 | AQP2 | c.127C= (p.Gln43=)
| |
12 | g.49950957C>G | CA384771828 | AQP2 | c.127C>G (p.Gln43Glu)
| gnomAD v4 |
12 | g.49950957C>T | CA384771830 | AQP2 | c.127C>T (p.Gln43Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950958A= | CA2035390477 | AQP2 | c.128A= (p.Gln43=)
| |
12 | g.49950958A>C | CA6559150 | AQP2 | c.128A>C (p.Gln43Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950958A>G | CA6559151 | AQP2 | c.128A>G (p.Gln43Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950958A>T | CA384771834 | AQP2 | c.128A>T (p.Gln43Leu)
| |
12 | g.49950959G>A | CA479583910 | AQP2 | c.129G>A (p.Gln43=)
| ClinVar dbSNP |
12 | g.49950959G>C | CA384771835 | AQP2 | c.129G>C (p.Gln43His)
| |
12 | g.49950959G>T | CA384771837 | AQP2 | c.129G>T (p.Gln43His)
| |
12 | g.49950960A>C | CA384771958 | AQP2 | c.130A>C (p.Ile44Leu)
| |
12 | g.49950960A>G | CA384771956 | AQP2 | c.130A>G (p.Ile44Val)
| |
12 | g.49950960A>T | CA384771957 | AQP2 | c.130A>T (p.Ile44Phe)
| |
12 | g.49950961T>A | CA384771959 | AQP2 | c.131T>A (p.Ile44Asn)
| |
12 | g.49950961T>C | CA384771960 | AQP2 | c.131T>C (p.Ile44Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950961T>G | CA384771961 | AQP2 | c.131T>G (p.Ile44Ser)
| |
12 | g.49950961T= | CA2035390481 | AQP2 | c.131T= (p.Ile44=)
| |
12 | g.49950962dup | CA2839646210 | AQP2 | c.132dup (p.Ala45CysfsTer?)
| |
12 | g.49950962T>A | CA479584081 | AQP2 | c.132T>A (p.Ile44=)
| |
12 | g.49950962T>C | CA479584082 | AQP2 | c.132T>C (p.Ile44=)
| |
12 | g.49950962T>G | CA384771962 | AQP2 | c.132T>G (p.Ile44Met)
| |
12 | g.49950963G>A | CA384771963 | AQP2 | c.133G>A (p.Ala45Thr)
| dbSNP gnomAD v4 |
12 | g.49950963G>C | CA384771964 | AQP2 | c.133G>C (p.Ala45Pro)
| |
12 | g.49950963G= | CA2035390486 | AQP2 | c.133G= (p.Ala45=)
| |
12 | g.49950963G>T | CA384771965 | AQP2 | c.133G>T (p.Ala45Ser)
| |
12 | g.49950964C>A | CA384771966 | AQP2 | c.134C>A (p.Ala45Asp)
| |
12 | g.49950964C= | CA2035390489 | AQP2 | c.134C= (p.Ala45=)
| |
12 | g.49950964C>G | CA384771967 | AQP2 | c.134C>G (p.Ala45Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950964C>T | CA384771968 | AQP2 | c.134C>T (p.Ala45Val)
| |
12 | g.49950965C>A | CA479584083 | AQP2 | c.135C>A (p.Ala45=)
| |
12 | g.49950965C= | CA2035390493 | AQP2 | c.135C= (p.Ala45=)
| |
12 | g.49950965C>G | CA479584084 | AQP2 | c.135C>G (p.Ala45=)
| |
12 | g.49950965C>T | CA479584085 | AQP2 | c.135C>T (p.Ala45=)
| ClinVar dbSNP |
12 | g.49950966A= | CA2035390496 | AQP2 | c.136A= (p.Met46=)
| |
12 | g.49950966A>C | CA384771969 | AQP2 | c.136A>C (p.Met46Leu)
| |
12 | g.49950966A>G | CA384771970 | AQP2 | c.136A>G (p.Met46Val)
| |
12 | g.49950966A>T | CA6559152 | AQP2 | c.136A>T (p.Met46Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950967T>A | CA384771971 | AQP2 | c.137T>A (p.Met46Lys)
| |
12 | g.49950967T>C | CA384771972 | AQP2 | c.137T>C (p.Met46Thr)
| |
12 | g.49950967T>G | CA384771973 | AQP2 | c.137T>G (p.Met46Arg)
| |
12 | g.49950968G>A | CA6559153 | AQP2 | c.138G>A (p.Met46Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950968G>C | CA384771974 | AQP2 | c.138G>C (p.Met46Ile)
| |
12 | g.49950968G= | CA2035390500 | AQP2 | c.138G= (p.Met46=)
| |
12 | g.49950968G>T | CA384771975 | AQP2 | c.138G>T (p.Met46Ile)
| |
12 | g.49950969G>A | CA384771976 | AQP2 | c.139G>A (p.Ala47Thr)
| |
12 | g.49950969G>C | CA384771978 | AQP2 | c.139G>C (p.Ala47Pro)
| |
12 | g.49950969G>T | CA384771977 | AQP2 | c.139G>T (p.Ala47Ser)
| |
12 | g.49950970C>A | CA384771979 | AQP2 | c.140C>A (p.Ala47Glu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950970C= | CA2035390505 | AQP2 | c.140C= (p.Ala47=)
| |
12 | g.49950970C>G | CA384771980 | AQP2 | c.140C>G (p.Ala47Gly)
| |
12 | g.49950970C>T | CA236731189 | AQP2 | c.140C>T (p.Ala47Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.49950971G>A | CA6559154 | AQP2 | c.141G>A (p.Ala47=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950971G>C | CA479584086 | AQP2 | c.141G>C (p.Ala47=)
| |
12 | g.49950971G= | CA2035390511 | AQP2 | c.141G= (p.Ala47=)
| |
12 | g.49950971G>T | CA479584087 | AQP2 | c.141G>T (p.Ala47=)
| gnomAD v4 |
12 | g.49950972T>A | CA384771981 | AQP2 | c.142T>A (p.Phe48Ile)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950972T>C | CA384771983 | AQP2 | c.142T>C (p.Phe48Leu)
| |
12 | g.49950972T>G | CA384771982 | AQP2 | c.142T>G (p.Phe48Val)
| |
12 | g.49950972T= | CA2035390514 | AQP2 | c.142T= (p.Phe48=)
| |
12 | g.49950973T>A | CA384771984 | AQP2 | c.143T>A (p.Phe48Tyr)
| |
12 | g.49950973T>C | CA384771985 | AQP2 | c.143T>C (p.Phe48Ser)
| |
12 | g.49950973T>G | CA384771986 | AQP2 | c.143T>G (p.Phe48Cys)
| |
12 | g.49950973_49950976delinsTTGG | CA2035390516 | AQP2 | c.143_146delinsTTGG (p.Phe48=)
| |
12 | g.49950974T>A | CA384771987 | AQP2 | c.144T>A (p.Phe48Leu)
| |
12 | g.49950974T>C | CA479584088 | AQP2 | c.144T>C (p.Phe48=)
| |
12 | g.49950974T>G | CA384771988 | AQP2 | c.144T>G (p.Phe48Leu)
| |
12 | g.49950974_49950976del | CA605235881 | AQP2 | c.144_146del (p.Gly49del)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950975G>A | CA384771989 | AQP2 | c.145G>A (p.Gly49Ser)
| |
12 | g.49950975G>C | CA384771990 | AQP2 | c.145G>C (p.Gly49Arg)
| |
12 | g.49950975G>T | CA384771991 | AQP2 | c.145G>T (p.Gly49Cys)
| |
12 | g.49950976G>A | CA384771992 | AQP2 | c.146G>A (p.Gly49Asp)
| gnomAD v4 |
12 | g.49950976G>C | CA384771993 | AQP2 | c.146G>C (p.Gly49Ala)
| |
12 | g.49950976G>T | CA384771994 | AQP2 | c.146G>T (p.Gly49Val)
| |
12 | g.49950977C>A | CA479584089 | AQP2 | c.147C>A (p.Gly49=)
| |
12 | g.49950977C>G | CA479584090 | AQP2 | c.147C>G (p.Gly49=)
| |
12 | g.49950977C>T | CA479584091 | AQP2 | c.147C>T (p.Gly49=)
| |
12 | g.49950978T>A | CA384771996 | AQP2 | c.148T>A (p.Leu50Met)
| |
12 | g.49950978T>C | CA479584092 | AQP2 | c.148T>C (p.Leu50=)
| |
12 | g.49950978T>G | CA384771995 | AQP2 | c.148T>G (p.Leu50Val)
| |
12 | g.49950979T>A | CA384771997 | AQP2 | c.149T>A (p.Leu50Ter)
| |
12 | g.49950979T>C | CA384771999 | AQP2 | c.149T>C (p.Leu50Ser)
| |
12 | g.49950979T>G | CA384771998 | AQP2 | c.149T>G (p.Leu50Trp)
| |
12 | g.49950980G>A | CA6559155 | AQP2 | c.150G>A (p.Leu50=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950980G>C | CA384772000 | AQP2 | c.150G>C (p.Leu50Phe)
| |
12 | g.49950980G= | CA2035390520 | AQP2 | c.150G= (p.Leu50=)
| |
12 | g.49950980G>T | CA384772001 | AQP2 | c.150G>T (p.Leu50Phe)
| COSMIC |
12 | g.49950981G>A | CA384772002 | AQP2 | c.151G>A (p.Gly51Ser)
| gnomAD v4 |
12 | g.49950981G>C | CA384772003 | AQP2 | c.151G>C (p.Gly51Arg)
| |
12 | g.49950981G>T | CA384772004 | AQP2 | c.151G>T (p.Gly51Cys)
| gnomAD v4 COSMIC |
12 | g.49950982G>A | CA384772005 | AQP2 | c.152G>A (p.Gly51Asp)
| |
12 | g.49950982G>C | CA384772006 | AQP2 | c.152G>C (p.Gly51Ala)
| |
12 | g.49950982G= | CA2035390521 | AQP2 | c.152G= (p.Gly51=)
| |
12 | g.49950982G>T | CA384772007 | AQP2 | c.152G>T (p.Gly51Val)
| gnomAD v4 |
12 | g.49950983T>A | CA479584095 | AQP2 | c.153T>A (p.Gly51=)
| |
12 | g.49950983T>C | CA479584093 | AQP2 | c.153T>C (p.Gly51=)
| |
12 | g.49950983T>G | CA479584094 | AQP2 | c.153T>G (p.Gly51=)
| dbSNP gnomAD v4 |
12 | g.49950983T= | CA2035390526 | AQP2 | c.153T= (p.Gly51=)
| |
12 | g.49950983dup | CA916082357 | AQP2 | c.153dup (p.Ile52TyrfsTer?)
| ClinVar dbSNP |
12 | g.49950984A>C | CA384772008 | AQP2 | c.154A>C (p.Ile52Leu)
| |
12 | g.49950984A>G | CA384772009 | AQP2 | c.154A>G (p.Ile52Val)
| |
12 | g.49950984A>T | CA384772010 | AQP2 | c.154A>T (p.Ile52Phe)
| |
12 | g.49950985T>A | CA384772011 | AQP2 | c.155T>A (p.Ile52Asn)
| |
12 | g.49950985T>C | CA384772013 | AQP2 | c.155T>C (p.Ile52Thr)
| ClinVar dbSNP gnomAD v4 |
12 | g.49950985T>G | CA384772012 | AQP2 | c.155T>G (p.Ile52Ser)
| |
12 | g.49950986T>A | CA479584096 | AQP2 | c.156T>A (p.Ile52=)
| |
12 | g.49950986T>C | CA479584097 | AQP2 | c.156T>C (p.Ile52=)
| dbSNP |
12 | g.49950986T>G | CA384772014 | AQP2 | c.156T>G (p.Ile52Met)
| |
12 | g.49950986T= | CA2035390530 | AQP2 | c.156T= (p.Ile52=)
| |
12 | g.49950987G>A | CA384772015 | AQP2 | c.157G>A (p.Gly53Ser)
| |
12 | g.49950987G>C | CA384772016 | AQP2 | c.157G>C (p.Gly53Arg)
| |
12 | g.49950987G= | CA2035390533 | AQP2 | c.157G= (p.Gly53=)
| |
12 | g.49950987G>T | CA384772017 | AQP2 | c.157G>T (p.Gly53Cys)
| dbSNP |
12 | g.49950988G>A | CA384772018 | AQP2 | c.158G>A (p.Gly53Asp)
| |
12 | g.49950988G>C | CA384772019 | AQP2 | c.158G>C (p.Gly53Ala)
| |
12 | g.49950988G>T | CA384772020 | AQP2 | c.158G>T (p.Gly53Val)
| |
12 | g.49950989C>A | CA479584098 | AQP2 | c.159C>A (p.Gly53=)
| gnomAD v4 |
12 | g.49950989C>G | CA479584099 | AQP2 | c.159C>G (p.Gly53=)
| |
12 | g.49950989C>T | CA479584100 | AQP2 | c.159C>T (p.Gly53=)
| COSMIC |
12 | g.49950990A= | CA2035390537 | AQP2 | c.160A= (p.Thr54=)
| |
12 | g.49950990A>C | CA384772021 | AQP2 | c.160A>C (p.Thr54Pro)
| dbSNP |
12 | g.49950990A>G | CA384772022 | AQP2 | c.160A>G (p.Thr54Ala)
| |
12 | g.49950990A>T | CA384772023 | AQP2 | c.160A>T (p.Thr54Ser)
| |
12 | g.49950991C>A | CA384772025 | AQP2 | c.161C>A (p.Thr54Asn)
| dbSNP |
12 | g.49950991C= | CA2035390540 | AQP2 | c.161C= (p.Thr54=)
| |
12 | g.49950991C>G | CA384772026 | AQP2 | c.161C>G (p.Thr54Ser)
| |
12 | g.49950991C>T | CA384772024 | AQP2 | c.161C>T (p.Thr54Ile)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49950992C>A | CA479584101 | AQP2 | c.162C>A (p.Thr54=)
| dbSNP gnomAD v4 |
12 | g.49950992C= | CA2035390543 | AQP2 | c.162C= (p.Thr54=)
| |
12 | g.49950992C>G | CA6559156 | AQP2 | c.162C>G (p.Thr54=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950992C>T | CA479584102 | AQP2 | c.162C>T (p.Thr54=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49950993C>A | CA384772027 | AQP2 | c.163C>A (p.Leu55Met)
| |
12 | g.49950993C= | CA2035390547 | AQP2 | c.163C= (p.Leu55=)
| |
12 | g.49950993C>G | CA384772028 | AQP2 | c.163C>G (p.Leu55Val)
| |
12 | g.49950993C>T | CA6559157 | AQP2 | c.163C>T (p.Leu55=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950994T>A | CA384772029 | AQP2 | c.164T>A (p.Leu55Gln)
| |
12 | g.49950994T>C | CA384772030 | AQP2 | c.164T>C (p.Leu55Pro)
| gnomAD v4 |
12 | g.49950994T>G | CA384772031 | AQP2 | c.164T>G (p.Leu55Arg)
| |
12 | g.49950995G>A | CA479584103 | AQP2 | c.165G>A (p.Leu55=)
| |
12 | g.49950995G>C | CA479584104 | AQP2 | c.165G>C (p.Leu55=)
| |
12 | g.49950995G>T | CA479584105 | AQP2 | c.165G>T (p.Leu55=)
| |
12 | g.49950996G>A | CA384772032 | AQP2 | c.166G>A (p.Val56Ile)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950996G>C | CA384772033 | AQP2 | c.166G>C (p.Val56Leu)
| |
12 | g.49950996G= | CA2035390552 | AQP2 | c.166G= (p.Val56=)
| |
12 | g.49950996G>T | CA384772034 | AQP2 | c.166G>T (p.Val56Leu)
| COSMIC |
12 | g.49950997T>A | CA384772035 | AQP2 | c.167T>A (p.Val56Glu)
| |
12 | g.49950997T>C | CA384772036 | AQP2 | c.167T>C (p.Val56Ala)
| |
12 | g.49950997T>G | CA384772037 | AQP2 | c.167T>G (p.Val56Gly)
| |
12 | g.49950998A= | CA2035390557 | AQP2 | c.168A= (p.Val56=)
| |
12 | g.49950998A>C | CA479584106 | AQP2 | c.168A>C (p.Val56=)
| |
12 | g.49950998A>G | CA236731211 | AQP2 | c.168A>G (p.Val56=)
| ClinVar dbSNP gnomAD v4 |
12 | g.49950998A>T | CA479584107 | AQP2 | c.168A>T (p.Val56=)
| gnomAD v4 |
12 | g.49950999C>A | CA384772040 | AQP2 | c.169C>A (p.Gln57Lys)
| |
12 | g.49950999C>G | CA384772039 | AQP2 | c.169C>G (p.Gln57Glu)
| |
12 | g.49950999C>T | CA384772038 | AQP2 | c.169C>T (p.Gln57Ter)
| |
12 | g.49951000A= | CA2035390568 | AQP2 | c.170A= (p.Gln57=)
| |
12 | g.49951000A>C | CA127486 | AQP2 | c.170A>C (p.Gln57Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951000A>G | CA384772041 | AQP2 | c.170A>G (p.Gln57Arg)
| |
12 | g.49951000A>T | CA384772042 | AQP2 | c.170A>T (p.Gln57Leu)
| |
12 | g.49951001G>A | CA479584108 | AQP2 | c.171G>A (p.Gln57=)
| |
12 | g.49951001G>C | CA384772043 | AQP2 | c.171G>C (p.Gln57His)
| |
12 | g.49951001G>T | CA384772044 | AQP2 | c.171G>T (p.Gln57His)
| |
12 | g.49951002G>A | CA6559158 | AQP2 | c.172G>A (p.Ala58Thr)
| dbSNP ExAC gnomAD v4 |
12 | g.49951002G>C | CA384772045 | AQP2 | c.172G>C (p.Ala58Pro)
| |
12 | g.49951002G= | CA2035390572 | AQP2 | c.172G= (p.Ala58=)
| |
12 | g.49951002G>T | CA384772046 | AQP2 | c.172G>T (p.Ala58Ser)
| |
12 | g.49951003C>A | CA384772047 | AQP2 | c.173C>A (p.Ala58Asp)
| gnomAD v4 |
12 | g.49951003C= | CA2035390579 | AQP2 | c.173C= (p.Ala58=)
| |
12 | g.49951003C>G | CA6559159 | AQP2 | c.173C>G (p.Ala58Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951003C>T | CA384772048 | AQP2 | c.173C>T (p.Ala58Val)
| |
12 | g.49951004T>A | CA479584109 | AQP2 | c.174T>A (p.Ala58=)
| |
12 | g.49951004T>C | CA479584110 | AQP2 | c.174T>C (p.Ala58=)
| |
12 | g.49951004T>G | CA479584111 | AQP2 | c.174T>G (p.Ala58=)
| |
12 | g.49951005C>A | CA384772049 | AQP2 | c.175C>A (p.Leu59Met)
| |
12 | g.49951005C>G | CA384772050 | AQP2 | c.175C>G (p.Leu59Val)
| |
12 | g.49951005C>T | CA479584112 | AQP2 | c.175C>T (p.Leu59=)
| gnomAD v4 |
12 | g.49951006T>A | CA384772053 | AQP2 | c.176T>A (p.Leu59Gln)
| |
12 | g.49951006T>C | CA384772052 | AQP2 | c.176T>C (p.Leu59Pro)
| |
12 | g.49951006T>G | CA384772051 | AQP2 | c.176T>G (p.Leu59Arg)
| |
12 | g.49951007G>A | CA479584115 | AQP2 | c.177G>A (p.Leu59=)
| ClinVar gnomAD v4 |
12 | g.49951007G>C | CA479584113 | AQP2 | c.177G>C (p.Leu59=)
| |
12 | g.49951007G>T | CA479584114 | AQP2 | c.177G>T (p.Leu59=)
| |
12 | g.49951008G>A | CA236731254 | AQP2 | c.178G>A (p.Gly60Ser)
| dbSNP COSMIC |
12 | g.49951008G>C | CA384772054 | AQP2 | c.178G>C (p.Gly60Arg)
| |
12 | g.49951008G= | CA2035390586 | AQP2 | c.178G= (p.Gly60=)
| |
12 | g.49951008G>T | CA384772055 | AQP2 | c.178G>T (p.Gly60Cys)
| |
12 | g.49951009G>A | CA384772056 | AQP2 | c.179G>A (p.Gly60Asp)
| gnomAD v4 |
12 | g.49951009G>C | CA384772057 | AQP2 | c.179G>C (p.Gly60Ala)
| gnomAD v4 |
12 | g.49951009G>T | CA384772058 | AQP2 | c.179G>T (p.Gly60Val)
| |
12 | g.49951010C>A | CA479584116 | AQP2 | c.180C>A (p.Gly60=)
| gnomAD v4 |
12 | g.49951010C= | CA2035390590 | AQP2 | c.180C= (p.Gly60=)
| |
12 | g.49951010C>G | CA479584117 | AQP2 | c.180C>G (p.Gly60=)
| |
12 | g.49951010C>T | CA6559160 | AQP2 | c.180C>T (p.Gly60=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951011C>A | CA384772061 | AQP2 | c.181C>A (p.His61Asn)
| |
12 | g.49951011C>G | CA384772059 | AQP2 | c.181C>G (p.His61Asp)
| |
12 | g.49951011C>T | CA384772060 | AQP2 | c.181C>T (p.His61Tyr)
| |
12 | g.49951012A>C | CA384772062 | AQP2 | c.182A>C (p.His61Pro)
| |
12 | g.49951012A>G | CA384772063 | AQP2 | c.182A>G (p.His61Arg)
| |
12 | g.49951012A>T | CA384772064 | AQP2 | c.182A>T (p.His61Leu)
| |
12 | g.49951013C>A | CA384772065 | AQP2 | c.183C>A (p.His61Gln)
| |
12 | g.49951013C>G | CA384772066 | AQP2 | c.183C>G (p.His61Gln)
| |
12 | g.49951013C>T | CA479584118 | AQP2 | c.183C>T (p.His61=)
| |
12 | g.49951014A= | CA2035390593 | AQP2 | c.184A= (p.Ile62=)
| |
12 | g.49951014A>C | CA6559161 | AQP2 | c.184A>C (p.Ile62Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951014A>G | CA384772067 | AQP2 | c.184A>G (p.Ile62Val)
| gnomAD v4 |
12 | g.49951014A>T | CA384772068 | AQP2 | c.184A>T (p.Ile62Leu)
| |
12 | g.49951015T>A | CA384772069 | AQP2 | c.185T>A (p.Ile62Lys)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951015T>C | CA384772070 | AQP2 | c.185T>C (p.Ile62Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951015T>G | CA384772071 | AQP2 | c.185T>G (p.Ile62Arg)
| |
12 | g.49951015T= | CA2035390595 | AQP2 | c.185T= (p.Ile62=)
| |
12 | g.49951016A>C | CA479584119 | AQP2 | c.186A>C (p.Ile62=)
| |
12 | g.49951016A>G | CA384772072 | AQP2 | c.186A>G (p.Ile62Met)
| |
12 | g.49951016A>T | CA479584120 | AQP2 | c.186A>T (p.Ile62=)
| ClinVar |
12 | g.49951017dup | CA2842437304 | AQP2 | c.187dup (p.Ser63LysfsTer?)
| |
12 | g.49951017A>C | CA384772073 | AQP2 | c.187A>C (p.Ser63Arg)
| |
12 | g.49951017A>G | CA384772074 | AQP2 | c.187A>G (p.Ser63Gly)
| |
12 | g.49951017A>T | CA384772075 | AQP2 | c.187A>T (p.Ser63Cys)
| gnomAD v4 |
12 | g.49951018G>A | CA6559162 | AQP2 | c.188G>A (p.Ser63Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951018G>C | CA384772076 | AQP2 | c.188G>C (p.Ser63Thr)
| |
12 | g.49951018G= | CA2035390599 | AQP2 | c.188G= (p.Ser63=)
| |
12 | g.49951018G>T | CA384772077 | AQP2 | c.188G>T (p.Ser63Ile)
| |
12 | g.49951019C>A | CA384772078 | AQP2 | c.189C>A (p.Ser63Arg)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951019C= | CA2035390606 | AQP2 | c.189C= (p.Ser63=)
| |
12 | g.49951019C>G | CA384772079 | AQP2 | c.189C>G (p.Ser63Arg)
| |
12 | g.49951019C>T | CA6559163 | AQP2 | c.189C>T (p.Ser63=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951020G>A | CA127468 | AQP2 | c.190G>A (p.Gly64Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951020G>C | CA384772080 | AQP2 | c.190G>C (p.Gly64Arg)
| |
12 | g.49951020G= | CA2035390612 | AQP2 | c.190G= (p.Gly64=)
| |
12 | g.49951020G>T | CA384772081 | AQP2 | c.190G>T (p.Gly64Trp)
| |
12 | g.49951021G>A | CA384772082 | AQP2 | c.191G>A (p.Gly64Glu)
| |
12 | g.49951021G>C | CA384772083 | AQP2 | c.191G>C (p.Gly64Ala)
| |
12 | g.49951021G>T | CA384772084 | AQP2 | c.191G>T (p.Gly64Val)
| gnomAD v4 |
12 | g.49951022G>A | CA236731317 | AQP2 | c.192G>A (p.Gly64=)
| dbSNP |
12 | g.49951022G>C | CA479584121 | AQP2 | c.192G>C (p.Gly64=)
| |
12 | g.49951022G= | CA2035390615 | AQP2 | c.192G= (p.Gly64=)
| |
12 | g.49951022G>T | CA479584122 | AQP2 | c.192G>T (p.Gly64=)
| |
12 | g.49951023G>A | CA6559165 | AQP2 | c.193G>A (p.Ala65Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951023G>C | CA6559164 | AQP2 | c.193G>C (p.Ala65Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951023G= | CA2035390616 | AQP2 | c.193G= (p.Ala65=)
| |
12 | g.49951023G>T | CA384772085 | AQP2 | c.193G>T (p.Ala65Ser)
| |
12 | g.49951024C>A | CA384772086 | AQP2 | c.194C>A (p.Ala65Asp)
| |
12 | g.49951024C= | CA2035390619 | AQP2 | c.194C= (p.Ala65=)
| |
12 | g.49951024C>G | CA384772087 | AQP2 | c.194C>G (p.Ala65Gly)
| |
12 | g.49951024C>T | CA236731352 | AQP2 | c.194C>T (p.Ala65Val)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951025C>A | CA479584123 | AQP2 | c.195C>A (p.Ala65=)
| |
12 | g.49951025C>G | CA479584124 | AQP2 | c.195C>G (p.Ala65=)
| |
12 | g.49951025C>T | CA479584125 | AQP2 | c.195C>T (p.Ala65=)
| |
12 | g.49951026C>A | CA384772088 | AQP2 | c.196C>A (p.His66Asn)
| |
12 | g.49951026C= | CA2035390620 | AQP2 | c.196C= (p.His66=)
| |
12 | g.49951026C>G | CA384772089 | AQP2 | c.196C>G (p.His66Asp)
| gnomAD v4 |
12 | g.49951026C>T | CA384772090 | AQP2 | c.196C>T (p.His66Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951027A>C | CA384772093 | AQP2 | c.197A>C (p.His66Pro)
| |
12 | g.49951027A>G | CA384772091 | AQP2 | c.197A>G (p.His66Arg)
| |
12 | g.49951027A>T | CA384772092 | AQP2 | c.197A>T (p.His66Leu)
| |
12 | g.49951028C>A | CA384772094 | AQP2 | c.198C>A (p.His66Gln)
| |
12 | g.49951028C>G | CA384772095 | AQP2 | c.198C>G (p.His66Gln)
| |
12 | g.49951028C>T | CA479584126 | AQP2 | c.198C>T (p.His66=)
| |
12 | g.49951029A>C | CA384772096 | AQP2 | c.199A>C (p.Ile67Leu)
| |
12 | g.49951029A>G | CA384772097 | AQP2 | c.199A>G (p.Ile67Val)
| |
12 | g.49951029A>T | CA384772098 | AQP2 | c.199A>T (p.Ile67Phe)
| |