| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45990791G>A | CA410523366 | COL6A1 | c.1021G>A (p.Gly341Ser) | dbSNP |
| 21 | g.45990791G>T | CA10605376 | COL6A1 | c.1021G>T (p.Gly341Cys) | ClinVar dbSNP |
| 21 | g.45990791G>C | CA410523368 | COL6A1 | c.1021G>C (p.Gly341Arg) | ClinVar dbSNP |
| 21 | g.45990791G= | CA2392434442 | COL6A1 | c.1021G= (p.Gly341=) | dbSNP |