| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46001981C>T | CA10070706 | COL6A1 | n.376C>T c.103C>T c.1977C>T (p.Tyr659=) n.211C>T c.1971C>T (p.Tyr657=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46001981C>G | CA257740 | COL6A1 | n.376C>G c.103C>G c.1977C>G (p.Tyr659Ter) n.211C>G c.1971C>G (p.Tyr657Ter) | ClinVar dbSNP |