| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108597524G>A | CA258530 | COL4A5 | c.1735G>A (p.Gly579Arg) n.1191G>A c.1411G>A (p.Gly471Arg) c.1750G>A (p.Gly584Arg) c.70G>A (p.Gly24Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108597524G= | CA2450688391 | COL4A5 | c.1735G= (p.Gly579=) n.1191G= c.1411G= (p.Gly471=) c.1750G= (p.Gly584=) c.70G= (p.Gly24=) | dbSNP |