| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94412593G>T | CA257768 | COL1A2 | c.1414G>T (p.Gly472Cys) c.1408G>T (p.Gly470Cys) | ClinVar dbSNP |
| 7 | g.94412593G>C | CA368221811 | COL1A2 | c.1414G>C (p.Gly472Arg) c.1408G>C (p.Gly470Arg) | ClinVar dbSNP |
| 7 | g.94412593G= | CA1726757998 | COL1A2 | c.1414G= (p.Gly472=) c.1408G= (p.Gly470=) | dbSNP |