| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94406295G>A | CA368220095 | COL1A2 | c.586G>A (p.Gly196Ser) c.580G>A (p.Gly194Ser) | ClinVar dbSNP |
| 7 | g.94406295G>T | CA16042602 | COL1A2 | c.586G>T (p.Gly196Cys) c.580G>T (p.Gly194Cys) | ClinVar dbSNP |
| 7 | g.94406295G= | CA1726792873 | COL1A2 | c.586G= (p.Gly196=) c.580G= (p.Gly194=) | dbSNP |
| 7 | g.94406295G>C | CA368220096 | COL1A2 | c.586G>C (p.Gly196Arg) c.580G>C (p.Gly194Arg) | ClinVar dbSNP |