Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108668373G>T | CA413848553 | COL4A5 | c.3659G>T (p.Gly1220Val) c.3335G>T (p.Gly1112Val) c.1232G>T (p.Gly411Val) c.3674G>T (p.Gly1225Val) c.1994G>T (p.Gly665Val) | ClinVar dbSNP |
X | g.108668373G>A | CA258923 | COL4A5 | c.3659G>A (p.Gly1220Asp) c.3335G>A (p.Gly1112Asp) c.1232G>A (p.Gly411Asp) c.3674G>A (p.Gly1225Asp) c.1994G>A (p.Gly665Asp) | ClinVar dbSNP |