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