| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50186895C>T | CA257860 | COL1A1 | c.3559G>A (p.Gly1187Ser) n.228G>A c.3289G>A (p.Gly1097Ser) c.2641G>A (p.Gly881Ser) c.3361G>A (p.Gly1121Ser) | ClinVar dbSNP |
| 17 | g.50186895C= | CA2263914419 | COL1A1 | c.3559G= (p.Gly1187=) n.228G= c.3289G= (p.Gly1097=) c.2641G= (p.Gly881=) c.3361G= (p.Gly1121=) | dbSNP |
| 17 | g.50186895C>A | CA400198281 | COL1A1 | c.3559G>T (p.Gly1187Cys) n.228G>T c.3289G>T (p.Gly1097Cys) c.2641G>T (p.Gly881Cys) c.3361G>T (p.Gly1121Cys) | ClinVar dbSNP |