| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109803009G>A | CA204953 | TRPV4 | c.694C>T (p.Arg232Cys) n.725C>T c.592C>T (p.Arg198Cys) c.847C>T (p.Arg283Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109803009G>T | CA386656000 | TRPV4 | c.694C>A (p.Arg232Ser) n.725C>A c.592C>A (p.Arg198Ser) c.847C>A (p.Arg283Ser) | ClinVar dbSNP |
| 12 | g.109803009G= | CA2062577557 | TRPV4 | c.694C= (p.Arg232=) n.725C= c.592C= (p.Arg198=) c.847C= (p.Arg283=) | dbSNP |