| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108620304G>A | CA258709 | COL4A5 | c.2555G>A (p.Gly852Glu) n.2011G>A c.2231G>A (p.Gly744Glu) c.128G>A (p.Gly43Glu) c.2570G>A (p.Gly857Glu) c.890G>A (p.Gly297Glu) | ClinVar dbSNP |
| X | g.108620304G= | CA2450695943 | COL4A5 | c.2555G= (p.Gly852=) n.2011G= c.2231G= (p.Gly744=) c.128G= (p.Gly43=) c.2570G= (p.Gly857=) c.890G= (p.Gly297=) | dbSNP |