| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94413129G>C | CA368222081 | COL1A2 | c.1550G>C (p.Gly517Ala) c.1544G>C (p.Gly515Ala) | dbSNP |
| 7 | g.94413129G>A | CA10654776 | COL1A2 | c.1550G>A (p.Gly517Asp) c.1544G>A (p.Gly515Asp) | ClinVar dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94413129G>C | CA368222081 | COL1A2 | c.1550G>C (p.Gly517Ala) c.1544G>C (p.Gly515Ala) | dbSNP |
| 7 | g.94413129G>A | CA10654776 | COL1A2 | c.1550G>A (p.Gly517Asp) c.1544G>A (p.Gly515Asp) | ClinVar dbSNP |