| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109784385C>T | CA117195 | TRPV4 | c.2389G>A (p.Glu797Lys) c.*1476G>A (n.*1476G>A) c.2287G>A (p.Glu763Lys) c.2209G>A (p.Glu737Lys) c.*772G>A (n.*772G>A) c.2248G>A (p.Glu750Lys) c.2068G>A (p.Glu690Lys) c.2542G>A (p.Glu848Lys) c.2401G>A (p.Glu801Lys) c.2362G>A (p.Glu788Lys) c.2221G>A (p.Glu741Lys) | ClinVar dbSNP |
| 12 | g.109784385C= | CA2062557952 | TRPV4 | c.2389G= (p.Glu797=) c.*1476G= (n.*1476G=) c.2287G= (p.Glu763=) c.2209G= (p.Glu737=) c.*772G= (n.*772G=) c.2248G= (p.Glu750=) c.2068G= (p.Glu690=) c.2542G= (p.Glu848=) c.2401G= (p.Glu801=) c.2362G= (p.Glu788=) c.2221G= (p.Glu741=) | dbSNP |