| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109798822C>G | CA386654871 | TRPV4 | c.944G>C (p.Arg315Pro) c.*31G>C (n.*31G>C) n.975G>C c.842G>C (p.Arg281Pro) c.803G>C (p.Arg268Pro) c.1097G>C (p.Arg366Pro) c.956G>C (p.Arg319Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109798822C>T | CA16619427 | TRPV4 | c.944G>A (p.Arg315Gln) c.*31G>A (n.*31G>A) n.975G>A c.842G>A (p.Arg281Gln) c.803G>A (p.Arg268Gln) c.1097G>A (p.Arg366Gln) c.956G>A (p.Arg319Gln) | ClinVar dbSNP |