| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90705508C>A | CA215127 | ADGRV1 | c.8495C>A (p.Ser2832Ter) c.265+29299C>A (n.265+29299C>A) n.3954C>A c.2302C>A n.1639C>A c.5786C>A (p.Ser1929Ter) c.3224C>A c.1192C>A n.8508C>A c.8492C>A (p.Ser2831Ter) c.8414C>A (p.Ser2805Ter) c.5798C>A (p.Ser1933Ter) c.8516C>A (p.Ser2839Ter) c.8513C>A (p.Ser2838Ter) c.8435C>A (p.Ser2812Ter) c.8420C>A (p.Ser2807Ter) c.1634C>A (p.Ser545Ter) c.1613C>A (p.Ser538Ter) n.8511C>A | ClinVar dbSNP |
| 5 | g.90705508C= | CA1562864640 | ADGRV1 | c.8495C= (p.Ser2832=) c.265+29299C= (n.265+29299C=) n.3954C= c.2302C= n.1639C= c.5786C= (p.Ser1929=) c.3224C= c.1192C= n.8508C= c.8492C= (p.Ser2831=) c.8414C= (p.Ser2805=) c.5798C= (p.Ser1933=) c.8516C= (p.Ser2839=) c.8513C= (p.Ser2838=) c.8435C= (p.Ser2812=) c.8420C= (p.Ser2807=) c.1634C= (p.Ser545=) c.1613C= (p.Ser538=) n.8511C= | dbSNP |