| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108614938G>A | CA258680 | COL4A5 | c.2423G>A (p.Gly808Glu) n.1879G>A c.2099G>A (p.Gly700Glu) c.-5G>A (n.-5G>A) c.2438G>A (p.Gly813Glu) c.758G>A (p.Gly253Glu) | ClinVar dbSNP |
| X | g.108614938G= | CA2450694131 | COL4A5 | c.2423G= (p.Gly808=) n.1879G= c.2099G= (p.Gly700=) c.-5G= (n.-5G=) c.2438G= (p.Gly813=) c.758G= (p.Gly253=) | dbSNP |