| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45987638G>T | CA410520838 | COL6A1 | c.788G>T (p.Gly263Val) | ClinVar dbSNP |
| 21 | g.45987638G>A | CA10605416 | COL6A1 | c.788G>A (p.Gly263Asp) | ClinVar dbSNP |
| 21 | g.45987638G= | CA2392432153 | COL6A1 | c.788G= (p.Gly263=) | dbSNP |