Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.50187050C>A | CA257857 | COL1A1 | c.3496G>T (p.Gly1166Cys) n.73G>T c.3226G>T (p.Gly1076Cys) c.2578G>T (p.Gly860Cys) c.3298G>T (p.Gly1100Cys) | ClinVar dbSNP |
17 | g.50187050C>T | CA400198666 | COL1A1 | c.3496G>A (p.Gly1166Ser) n.73G>A c.3226G>A (p.Gly1076Ser) c.2578G>A (p.Gly860Ser) c.3298G>A (p.Gly1100Ser) | ClinVar dbSNP |