| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49954663C>G | CA384774611 | AQP2,AQP5-AS1 | c.559C>G (p.Arg187Gly) c.685C>G (p.Arg229Gly) n.257-315G>C n.118-2575G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.49954663C>T | CA127464 | AQP2,AQP5-AS1 | c.559C>T (p.Arg187Cys) c.685C>T (p.Arg229Cys) n.257-315G>A n.118-2575G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |