| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.94418518G>T | CA368223021 | COL1A2 | c.1991G>T (p.Gly664Val) n.80G>T n.328G>T n.388G>T c.1985G>T (p.Gly662Val) | ClinVar dbSNP COSMIC |
| 7 | g.94418518G>A | CA260348 | COL1A2 | c.1991G>A (p.Gly664Asp) n.80G>A n.328G>A n.388G>A c.1985G>A (p.Gly662Asp) | ClinVar dbSNP |
| 7 | g.94418518G= | CA1726769054 | COL1A2 | c.1991G= (p.Gly664=) n.80G= n.328G= n.388G= c.1985G= (p.Gly662=) | dbSNP |