| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109792407C>T | CA117164 | TRPV4 | c.1847G>A (p.Arg616Gln) c.*934G>A (n.*934G>A) n.1878G>A c.1745G>A (p.Arg582Gln) c.1667G>A (p.Arg556Gln) c.*230G>A (n.*230G>A) c.1706G>A (p.Arg569Gln) c.1526G>A (p.Arg509Gln) c.2000G>A (p.Arg667Gln) c.1859G>A (p.Arg620Gln) c.1820G>A (p.Arg607Gln) c.1679G>A (p.Arg560Gln) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109792407C= | CA2062564278 | TRPV4 | c.1847G= (p.Arg616=) c.*934G= (n.*934G=) n.1878G= c.1745G= (p.Arg582=) c.1667G= (p.Arg556=) c.*230G= (n.*230G=) c.1706G= (p.Arg569=) c.1526G= (p.Arg509=) c.2000G= (p.Arg667=) c.1859G= (p.Arg620=) c.1820G= (p.Arg607=) c.1679G= (p.Arg560=) | dbSNP |