| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109798823G>C | CA386654876 | TRPV4 | c.943C>G (p.Arg315Gly) c.*30C>G (n.*30C>G) n.974C>G c.841C>G (p.Arg281Gly) c.802C>G (p.Arg268Gly) c.1096C>G (p.Arg366Gly) c.955C>G (p.Arg319Gly) | ClinVar dbSNP |
| 12 | g.109798823G>A | CA117178 | TRPV4 | c.943C>T (p.Arg315Trp) c.*30C>T (n.*30C>T) n.974C>T c.841C>T (p.Arg281Trp) c.802C>T (p.Arg268Trp) c.1096C>T (p.Arg366Trp) c.955C>T (p.Arg319Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |