| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108667165G>A | CA258900 | COL4A5 | c.3586G>A (p.Gly1196Arg) c.3262G>A (p.Gly1088Arg) c.1159G>A (p.Gly387Arg) c.3601G>A (p.Gly1201Arg) c.1921G>A (p.Gly641Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108667165G= | CA2450712545 | COL4A5 | c.3586G= (p.Gly1196=) c.3262G= (p.Gly1088=) c.1159G= (p.Gly387=) c.3601G= (p.Gly1201=) c.1921G= (p.Gly641=) | dbSNP |