| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108615024G>A | CA258700 | COL4A5 | c.2509G>A (p.Gly837Ser) n.1965G>A c.2185G>A (p.Gly729Ser) c.82G>A (p.Gly28Ser) c.2524G>A (p.Gly842Ser) c.844G>A (p.Gly282Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.108615024G= | CA2450694166 | COL4A5 | c.2509G= (p.Gly837=) n.1965G= c.2185G= (p.Gly729=) c.82G= (p.Gly28=) c.2524G= (p.Gly842=) c.844G= (p.Gly282=) | dbSNP |