Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.50191805C>T | CA291544042 | COL1A1 | c.2110G>A (p.Gly704Ser) n.459G>A c.1192G>A (p.Gly398Ser) c.1912G>A (p.Gly638Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.50191805C>A | CA257818 | COL1A1 | c.2110G>T (p.Gly704Cys) n.459G>T c.1192G>T (p.Gly398Cys) c.1912G>T (p.Gly638Cys) | ClinVar dbSNP gnomAD v4 |