| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109798768T>C | CA117170 | TRPV4 | c.998A>G (p.Asp333Gly) c.*85A>G (n.*85A>G) n.1029A>G c.896A>G (p.Asp299Gly) c.857A>G (p.Asp286Gly) c.1151A>G (p.Asp384Gly) c.1010A>G (p.Asp337Gly) | ClinVar dbSNP |
| 12 | g.109798768T= | CA2062573027 | TRPV4 | c.998A= (p.Asp333=) c.*85A= (n.*85A=) n.1029A= c.896A= (p.Asp299=) c.857A= (p.Asp286=) c.1151A= (p.Asp384=) c.1010A= (p.Asp337=) | dbSNP |