| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108625705G>A | CA413854394 | COL4A5 | c.3017G>A (p.Gly1006Asp) n.2473G>A c.250G>A c.2693G>A (p.Gly898Asp) c.590G>A (p.Gly197Asp) c.3032G>A (p.Gly1011Asp) c.1352G>A (p.Gly451Asp) | ClinVar dbSNP |
| X | g.108625705G>T | CA258792 | COL4A5 | c.3017G>T (p.Gly1006Val) n.2473G>T c.250G>T c.2693G>T (p.Gly898Val) c.590G>T (p.Gly197Val) c.3032G>T (p.Gly1011Val) c.1352G>T (p.Gly451Val) | ClinVar dbSNP |
| X | g.108625705G= | CA2450697886 | COL4A5 | c.3017G= (p.Gly1006=) n.2473G= c.250G= c.2693G= (p.Gly898=) c.590G= (p.Gly197=) c.3032G= (p.Gly1011=) c.1352G= (p.Gly451=) | dbSNP |