| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109784373T>C | CA16619425 | TRPV4 | c.2401A>G (p.Lys801Glu) c.*1488A>G (n.*1488A>G) c.2299A>G (p.Lys767Glu) c.2221A>G (p.Lys741Glu) c.*784A>G (n.*784A>G) c.2260A>G (p.Lys754Glu) c.2080A>G (p.Lys694Glu) c.2554A>G (p.Lys852Glu) c.2413A>G (p.Lys805Glu) c.2374A>G (p.Lys792Glu) c.2233A>G (p.Lys745Glu) | ClinVar dbSNP |
| 12 | g.109784373T= | CA2062557931 | TRPV4 | c.2401A= (p.Lys801=) c.*1488A= (n.*1488A=) c.2299A= (p.Lys767=) c.2221A= (p.Lys741=) c.*784A= (n.*784A=) c.2260A= (p.Lys754=) c.2080A= (p.Lys694=) c.2554A= (p.Lys852=) c.2413A= (p.Lys805=) c.2374A= (p.Lys792=) c.2233A= (p.Lys745=) | dbSNP |