| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108620374del | CA258727 | COL4A5 | c.2625del (p.Pro876LeufsTer25) n.2081del c.2301del (p.Pro768LeufsTer25) c.198del (p.Pro67LeufsTer25) c.2640del (p.Pro881LeufsTer25) c.960del (p.Pro321LeufsTer25) | dbSNP |
| X | g.108620374A= | CA2580701031 | COL4A5 | c.2625A= (p.Gly875=) n.2081A= c.2301A= (p.Gly767=) c.198A= (p.Gly66=) c.2640A= (p.Gly880=) c.960A= (p.Gly320=) | dbSNP |