| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50196163C>T | CA257866 | COL1A1 | c.994G>A (p.Gly332Arg) n.319G>A c.957+151G>A (n.957+151G>A) | ClinVar dbSNP |
| 17 | g.50196163C= | CA2263919109 | COL1A1 | c.994G= (p.Gly332=) n.319G= c.957+151G= (n.957+151G=) | dbSNP |
| 17 | g.50196163C>G | CA400221256 | COL1A1 | c.994G>C (p.Gly332Arg) n.319G>C c.957+151G>C (n.957+151G>C) | dbSNP |