| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46132118C>G | CA410548631 | COL6A2 | c.2626C>G (p.Arg876Gly) n.2703C>G n.2710C>G | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.46132118C>T | CA10072955 | COL6A2 | c.2626C>T (p.Arg876Cys) n.2703C>T n.2710C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 21 | g.46132118C>A | CA259615 | COL6A2 | c.2626C>A (p.Arg876Ser) n.2703C>A n.2710C>A | ClinVar dbSNP gnomAD v4 |