| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237350158G>A | CA295314 | COL6A3 | c.6250C>T (p.Arg2084Cys) c.6868C>T (p.Arg2290Cys) c.5047C>T (p.Arg1683Cys) n.1122C>T c.6268C>T (p.Arg2090Cys) c.5647C>T (p.Arg1883Cys) c.6367C>T (p.Arg2123Cys) c.6865C>T (p.Arg2289Cys) c.4462C>T (p.Arg1488Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237350158G>C | CA351209056 | COL6A3 | c.6250C>G (p.Arg2084Gly) c.6868C>G (p.Arg2290Gly) c.5047C>G (p.Arg1683Gly) n.1122C>G c.6268C>G (p.Arg2090Gly) c.5647C>G (p.Arg1883Gly) c.6367C>G (p.Arg2123Gly) c.6865C>G (p.Arg2289Gly) c.4462C>G (p.Arg1488Gly) | dbSNP gnomAD v2 gnomAD v4 |