Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | 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.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 |