| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45987501C>A | CA16608563 | COL6A1 | c.741C>A (p.Cys247Ter) n.393C>A | ClinVar dbSNP gnomAD v4 |
| 21 | g.45987501C>T | CA512710448 | COL6A1 | c.741C>T (p.Cys247=) n.393C>T | ClinVar dbSNP |
| 21 | g.45987501C= | CA2392432061 | COL6A1 | c.741C= (p.Cys247=) n.393C= | dbSNP |