| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90694162G>A | CA261839 | ADGRV1 | c.7406G>A (p.Trp2469Ter) c.265+17953G>A (n.265+17953G>A) n.2865G>A c.1213G>A n.550G>A c.4697G>A (p.Trp1566Ter) c.2135G>A c.103G>A n.7419G>A c.7403G>A (p.Trp2468Ter) c.7325G>A (p.Trp2442Ter) c.4709G>A (p.Trp1570Ter) c.7310G>A (p.Trp2437Ter) c.524G>A (p.Trp175Ter) n.7422G>A | ClinVar dbSNP |
| 5 | g.90694162G= | CA1562859883 | ADGRV1 | c.7406G= (p.Trp2469=) c.265+17953G= (n.265+17953G=) n.2865G= c.1213G= n.550G= c.4697G= (p.Trp1566=) c.2135G= c.103G= n.7419G= c.7403G= (p.Trp2468=) c.7325G= (p.Trp2442=) c.4709G= (p.Trp1570=) c.7310G= (p.Trp2437=) c.524G= (p.Trp175=) n.7422G= | dbSNP |