| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108568638G>A | CA258221 | COL4A5 | c.286G>A (p.Gly96Arg) n.470G>A c.-39G>A (n.-39G>A) c.301G>A (p.Gly101Arg) | ClinVar dbSNP |
| X | g.108568638G= | CA2450679221 | COL4A5 | c.286G= (p.Gly96=) n.470G= c.-39G= (n.-39G=) c.301G= (p.Gly101=) | dbSNP |