| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108666540G>A | CA258876 | COL4A5 | c.3499G>A (p.Gly1167Ser) c.3175G>A (p.Gly1059Ser) c.1072G>A (p.Gly358Ser) c.3514G>A (p.Gly1172Ser) c.1834G>A (p.Gly612Ser) | ClinVar dbSNP |
| X | g.108666540G= | CA2450712332 | COL4A5 | c.3499G= (p.Gly1167=) c.3175G= (p.Gly1059=) c.1072G= (p.Gly358=) c.3514G= (p.Gly1172=) c.1834G= (p.Gly612=) | dbSNP |