| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109786827G>A | CA129251 | TRPV4 | c.2219C>T (p.Thr740Ile) c.*1306C>T (n.*1306C>T) n.2309C>T c.2117C>T (p.Thr706Ile) c.2039C>T (p.Thr680Ile) c.*602C>T (n.*602C>T) c.2078C>T (p.Thr693Ile) c.1898C>T (p.Thr633Ile) c.*49C>T (n.*49C>T) c.2372C>T (p.Thr791Ile) c.2231C>T (p.Thr744Ile) c.2192C>T (p.Thr731Ile) c.2051C>T (p.Thr684Ile) | ClinVar dbSNP |
| 12 | g.109786827G= | CA2062559419 | TRPV4 | c.2219C= (p.Thr740=) c.*1306C= (n.*1306C=) n.2309C= c.2117C= (p.Thr706=) c.2039C= (p.Thr680=) c.*602C= (n.*602C=) c.2078C= (p.Thr693=) c.1898C= (p.Thr633=) c.*49C= (n.*49C=) c.2372C= (p.Thr791=) c.2231C= (p.Thr744=) c.2192C= (p.Thr731=) c.2051C= (p.Thr684=) | dbSNP |