| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49954647C>T | CA6559293 | AQP2,AQP5-AS1 | c.543C>T (p.Cys181=) c.669C>T (p.Cys223=) n.257-299G>A n.118-2559G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49954647C>G | CA127484 | AQP2,AQP5-AS1 | c.543C>G (p.Cys181Trp) c.669C>G (p.Cys223Trp) n.257-299G>C n.118-2559G>C | ClinVar dbSNP |