Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
12 | g.49951141T>A | CA384772327 | AQP2 | c.311T>A (p.Leu104His) | |
12 | g.49951141T>C | CA384772329 | AQP2 | c.311T>C (p.Leu104Pro) | |
12 | g.49951141T>G | CA384772331 | AQP2 | c.311T>G (p.Leu104Arg) | |
12 | g.49951142C>A | CA479584262 | AQP2 | c.312C>A (p.Leu104=) | |
12 | g.49951142C= | CA2035390827 | AQP2 | c.312C= (p.Leu104=) | |
12 | g.49951142C>G | CA479584263 | AQP2 | c.312C>G (p.Leu104=) |