| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90708822del | CA261841 | ADGRV1 | c.8737del (p.Val2913TyrfsTer4) c.265+32613del (n.265+32613del) n.4196del c.2544del n.1881del c.6028del (p.Val2010TyrfsTer4) c.3466del c.1434del n.8750del c.8734del (p.Val2912TyrfsTer4) c.8656del (p.Val2886TyrfsTer4) c.6040del (p.Val2014TyrfsTer4) c.8758del (p.Val2920TyrfsTer4) c.8755del (p.Val2919TyrfsTer4) c.8677del (p.Val2893TyrfsTer4) c.8662del (p.Val2888TyrfsTer4) c.1876del (p.Val626TyrfsTer4) c.1855del (p.Val619TyrfsTer4) n.8753del | ClinVar dbSNP |
| 5 | g.90708822G= | CA1562866013 | ADGRV1 | c.8737G= (p.Val2913=) c.265+32613G= (n.265+32613G=) n.4196G= c.2544G= n.1881G= c.6028G= (p.Val2010=) c.3466G= c.1434G= n.8750G= c.8734G= (p.Val2912=) c.8656G= (p.Val2886=) c.6040G= (p.Val2014=) c.8758G= (p.Val2920=) c.8755G= (p.Val2919=) c.8677G= (p.Val2893=) c.8662G= (p.Val2888=) c.1876G= (p.Val626=) c.1855G= (p.Val619=) n.8753G= | dbSNP dbSNP |