| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109800666G>A | CA130778 | TRPV4 | c.805C>T (p.Arg269Cys) c.834C>T (p.Pro278=) n.836C>T c.703C>T (p.Arg235Cys) c.713-1754C>T (n.713-1754C>T) c.958C>T (p.Arg320Cys) c.866-1754C>T (n.866-1754C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800666G>T | CA386655325 | TRPV4 | c.805C>A (p.Arg269Ser) c.834C>A (p.Pro278=) n.836C>A c.703C>A (p.Arg235Ser) c.713-1754C>A (n.713-1754C>A) c.958C>A (p.Arg320Ser) c.866-1754C>A (n.866-1754C>A) | ClinVar dbSNP |