| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108624283del | CA258786 | COL4A5 | c.2965del (p.Asp989ThrfsTer7) n.2421del c.198del c.2641del (p.Asp881ThrfsTer7) c.538del (p.Asp180ThrfsTer7) c.2980del (p.Asp994ThrfsTer7) c.1300del (p.Asp434ThrfsTer7) | dbSNP |
| X | g.108624283G= | CA2580701032 | COL4A5 | c.2965G= (p.Asp989=) n.2421G= c.198G= c.2641G= (p.Asp881=) c.538G= (p.Asp180=) c.2980G= (p.Asp994=) c.1300G= (p.Asp434=) | dbSNP |