Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108598730G>T | CA258549 | COL4A5 | c.1808G>T (p.Gly603Val) n.1264G>T c.1484G>T (p.Gly495Val) c.1823G>T (p.Gly608Val) c.143G>T (p.Gly48Val) | ClinVar dbSNP |
X | g.108598730G>A | CA413845661 | COL4A5 | c.1808G>A (p.Gly603Asp) n.1264G>A c.1484G>A (p.Gly495Asp) c.1823G>A (p.Gly608Asp) c.143G>A (p.Gly48Asp) | ClinVar dbSNP |