| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108620346G>A | CA258717 | COL4A5 | c.2597G>A (p.Gly866Glu) n.2053G>A c.2273G>A (p.Gly758Glu) c.170G>A (p.Gly57Glu) c.2612G>A (p.Gly871Glu) c.932G>A (p.Gly311Glu) | ClinVar dbSNP |
| X | g.108620346G= | CA2450695964 | COL4A5 | c.2597G= (p.Gly866=) n.2053G= c.2273G= (p.Gly758=) c.170G= (p.Gly57=) c.2612G= (p.Gly871=) c.932G= (p.Gly311=) | dbSNP |