| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90807650G>A | CA10576673 | ADGRV1 | c.14885G>A (p.Trp4962Ter) c.3839G>A (p.Trp1280Ter) n.2152G>A n.428-2583G>A c.265+131441G>A (n.265+131441G>A) c.1295G>A (p.Trp432Ter) c.1868G>A (p.Trp623Ter) n.581G>A n.14898G>A c.14882G>A (p.Trp4961Ter) c.14804G>A (p.Trp4935Ter) c.12188G>A (p.Trp4063Ter) c.14906G>A (p.Trp4969Ter) c.14903G>A (p.Trp4968Ter) c.14825G>A (p.Trp4942Ter) c.14810G>A (p.Trp4937Ter) c.14731G>A (p.Gly4911Arg) c.8024G>A (p.Trp2675Ter) c.8003G>A (p.Trp2668Ter) n.14901G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.90807650G= | CA1562910056 | ADGRV1 | c.14885G= (p.Trp4962=) c.3839G= (p.Trp1280=) n.2152G= n.428-2583G= c.265+131441G= (n.265+131441G=) c.1295G= (p.Trp432=) c.1868G= (p.Trp623=) n.581G= n.14898G= c.14882G= (p.Trp4961=) c.14804G= (p.Trp4935=) c.12188G= (p.Trp4063=) c.14906G= (p.Trp4969=) c.14903G= (p.Trp4968=) c.14825G= (p.Trp4942=) c.14810G= (p.Trp4937=) c.14731G= (p.Gly4911=) c.8024G= (p.Trp2675=) c.8003G= (p.Trp2668=) n.14901G= | dbSNP |