| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45992022G>A | CA410524654 | COL6A1 | c.1132G>A (p.Ala378Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45992022G>C | CA16043157 | COL6A1 | c.1132G>C (p.Ala378Pro) | ClinVar dbSNP |
| 21 | g.45992022G= | CA2392435298 | COL6A1 | c.1132G= (p.Ala378=) | dbSNP |