| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108597525G>A | CA258532 | COL4A5 | c.1736G>A (p.Gly579Glu) n.1192G>A c.1412G>A (p.Gly471Glu) c.1751G>A (p.Gly584Glu) c.71G>A (p.Gly24Glu) | ClinVar dbSNP |
| X | g.108597525G= | CA2450688392 | COL4A5 | c.1736G= (p.Gly579=) n.1192G= c.1412G= (p.Gly471=) c.1751G= (p.Gly584=) c.71G= (p.Gly24=) | dbSNP |