| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109798775T>C | CA6780373 | TRPV4 | c.991A>G (p.Ile331Val) c.*78A>G (n.*78A>G) n.1022A>G c.889A>G (p.Ile297Val) c.850A>G (p.Ile284Val) c.1144A>G (p.Ile382Val) c.1003A>G (p.Ile335Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109798775T>A | CA117174 | TRPV4 | c.991A>T (p.Ile331Phe) c.*78A>T (n.*78A>T) n.1022A>T c.889A>T (p.Ile297Phe) c.850A>T (p.Ile284Phe) c.1144A>T (p.Ile382Phe) c.1003A>T (p.Ile335Phe) | ClinVar dbSNP |