| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50194375C>A | CA291545243 | COL1A1 | c.1588G>T (p.Gly530Cys) n.532G>T c.958-1682G>T (n.958-1682G>T) c.1390G>T (p.Gly464Cys) | ClinVar dbSNP |
| 17 | g.50194375C>T | CA257887 | COL1A1 | c.1588G>A (p.Gly530Ser) n.532G>A c.958-1682G>A (n.958-1682G>A) c.1390G>A (p.Gly464Ser) | ClinVar dbSNP |
| 17 | g.50194375C= | CA2263918153 | COL1A1 | c.1588G= (p.Gly530=) n.532G= c.958-1682G= (n.958-1682G=) c.1390G= (p.Gly464=) | dbSNP |