| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108595566G>A | CA258484 | COL4A5 | c.1481G>A (p.Gly494Asp) n.937G>A c.1157G>A (p.Gly386Asp) c.1496G>A (p.Gly499Asp) c.-185G>A (n.-185G>A) | ClinVar dbSNP |
| X | g.108595566G= | CA2450687749 | COL4A5 | c.1481G= (p.Gly494=) n.937G= c.1157G= (p.Gly386=) c.1496G= (p.Gly499=) c.-185G= (n.-185G=) | dbSNP |