| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90694362G>T | CA10588925 | ADGRV1 | c.7606G>T (p.Glu2536Ter) c.265+18153G>T (n.265+18153G>T) n.3065G>T c.1413G>T n.750G>T c.4897G>T (p.Glu1633Ter) c.2335G>T c.303G>T n.7619G>T c.7603G>T (p.Glu2535Ter) c.7525G>T (p.Glu2509Ter) c.4909G>T (p.Glu1637Ter) c.7510G>T (p.Glu2504Ter) c.724G>T (p.Glu242Ter) n.7622G>T | ClinVar dbSNP |
| 5 | g.90694362G= | CA1562859961 | ADGRV1 | c.7606G= (p.Glu2536=) c.265+18153G= (n.265+18153G=) n.3065G= c.1413G= n.750G= c.4897G= (p.Glu1633=) c.2335G= c.303G= n.7619G= c.7603G= (p.Glu2535=) c.7525G= (p.Glu2509=) c.4909G= (p.Glu1637=) c.7510G= (p.Glu2504=) c.724G= (p.Glu242=) n.7622G= | dbSNP |