| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108620354G>A | CA258720 | COL4A5 | c.2605G>A (p.Gly869Arg) n.2061G>A c.2281G>A (p.Gly761Arg) c.178G>A (p.Gly60Arg) c.2620G>A (p.Gly874Arg) c.940G>A (p.Gly314Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108620354G= | CA2450695969 | COL4A5 | c.2605G= (p.Gly869=) n.2061G= c.2281G= (p.Gly761=) c.178G= (p.Gly60=) c.2620G= (p.Gly874=) c.940G= (p.Gly314=) | dbSNP |