| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45990284G>A | CA512713111 | COL6A1 | c.957G>A (p.Lys319=) | ClinVar dbSNP |
| 21 | g.45990284G>T | CA16608092 | COL6A1 | c.957G>T (p.Lys319Asn) | ClinVar dbSNP |
| 21 | g.45990284G= | CA2392434050 | COL6A1 | c.957G= (p.Lys319=) | dbSNP |