| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109792379C>T | CA347752 | TRPV4 | c.1875G>A (p.Met625Ile) c.*962G>A (n.*962G>A) n.1906G>A c.1773G>A (p.Met591Ile) c.1695G>A (p.Met565Ile) c.*258G>A (n.*258G>A) c.1734G>A (p.Met578Ile) c.1554G>A (p.Met518Ile) c.2028G>A (p.Met676Ile) c.1887G>A (p.Met629Ile) c.1848G>A (p.Met616Ile) c.1707G>A (p.Met569Ile) | ClinVar dbSNP |
| 12 | g.109792379C= | CA2062564212 | TRPV4 | c.1875G= (p.Met625=) c.*962G= (n.*962G=) n.1906G= c.1773G= (p.Met591=) c.1695G= (p.Met565=) c.*258G= (n.*258G=) c.1734G= (p.Met578=) c.1554G= (p.Met518=) c.2028G= (p.Met676=) c.1887G= (p.Met629=) c.1848G= (p.Met616=) c.1707G= (p.Met569=) | dbSNP |