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 |