Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.50188131C>A | CA291543019 | COL1A1 | c.3226G>T (p.Gly1076Cys) n.424G>T n.550G>T c.2956G>T (p.Gly986Cys) c.2308G>T (p.Gly770Cys) c.3028G>T (p.Gly1010Cys) | dbSNP |
17 | g.50188131C>T | CA291543018 | COL1A1 | c.3226G>A (p.Gly1076Ser) n.424G>A n.550G>A c.2956G>A (p.Gly986Ser) c.2308G>A (p.Gly770Ser) c.3028G>A (p.Gly1010Ser) | ClinVar dbSNP |