| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108586644dup | CA258392 | COL4A5 | c.1062dup (p.Ile355TyrfsTer?) n.518dup c.738dup (p.Ile247TyrfsTer?) c.1077dup (p.Ile360TyrfsTer?) c.-648dup (n.-648dup) | dbSNP |
| X | g.108586644T= | CA2580701026 | COL4A5 | c.1062T= (p.Thr354=) n.518T= c.738T= (p.Thr246=) c.1077T= (p.Thr359=) c.-648T= (n.-648T=) | dbSNP |