| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108597043G>A | CA258493 | COL4A5 | c.1562G>A (p.Gly521Asp) n.1018G>A c.1238G>A (p.Gly413Asp) c.1577G>A (p.Gly526Asp) c.-104G>A (n.-104G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.108597043G= | CA2450688221 | COL4A5 | c.1562G= (p.Gly521=) n.1018G= c.1238G= (p.Gly413=) c.1577G= (p.Gly526=) c.-104G= (n.-104G=) | dbSNP |