| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109800754C>G | CA347747 | TRPV4 | c.717G>C (p.Gln239His) c.746G>C (p.Arg249Thr) n.748G>C c.615G>C (p.Gln205His) c.713-1842G>C (n.713-1842G>C) c.870G>C (p.Gln290His) c.866-1842G>C (n.866-1842G>C) | ClinVar dbSNP |
| 12 | g.109800754C= | CA2062574955 | TRPV4 | c.717G= (p.Gln239=) c.746G= (p.Arg249=) n.748G= c.615G= (p.Gln205=) c.713-1842G= (n.713-1842G=) c.870G= (p.Gln290=) c.866-1842G= (n.866-1842G=) | dbSNP |