| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108582921G>A | CA255266 | COL4A5 | c.974G>A (p.Gly325Glu) n.430G>A c.650G>A (p.Gly217Glu) c.989G>A (p.Gly330Glu) c.-736G>A (n.-736G>A) | ClinVar dbSNP |
| X | g.108582921G= | CA2450683813 | COL4A5 | c.974G= (p.Gly325=) n.430G= c.650G= (p.Gly217=) c.989G= (p.Gly330=) c.-736G= (n.-736G=) | dbSNP |