Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108620382G>A | CA413851575 | COL4A5 | c.2633G>A (p.Gly878Glu) n.2089G>A c.2309G>A (p.Gly770Glu) c.206G>A (p.Gly69Glu) c.2648G>A (p.Gly883Glu) c.968G>A (p.Gly323Glu) | ClinVar dbSNP COSMIC |
X | g.108620382G>T | CA258728 | COL4A5 | c.2633G>T (p.Gly878Val) n.2089G>T c.2309G>T (p.Gly770Val) c.206G>T (p.Gly69Val) c.2648G>T (p.Gly883Val) c.968G>T (p.Gly323Val) | dbSNP |