| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109800652G>C | CA347706 | TRPV4 | c.819C>G (p.Phe273Leu) c.848C>G (p.Ser283Cys) n.850C>G c.717C>G (p.Phe239Leu) c.713-1740C>G (n.713-1740C>G) c.972C>G (p.Phe324Leu) c.866-1740C>G (n.866-1740C>G) | ClinVar dbSNP |
| 12 | g.109800652G= | CA2062574717 | TRPV4 | c.819C= (p.Phe273=) c.848C= (p.Ser283=) n.850C= c.717C= (p.Phe239=) c.713-1740C= (n.713-1740C=) c.972C= (p.Phe324=) c.866-1740C= (n.866-1740C=) | dbSNP |