| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237354922G>A | CA351213744 | COL6A3 | c.5986C>T (p.Arg1996Ter) c.6604C>T (p.Arg2202Ter) c.4783C>T (p.Arg1595Ter) n.858C>T c.6004C>T (p.Arg2002Ter) c.5383C>T (p.Arg1795Ter) c.6103C>T (p.Arg2035Ter) c.6601C>T (p.Arg2201Ter) c.4198C>T (p.Arg1400Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237354922G>T | CA2188174 | COL6A3 | c.5986C>A (p.Arg1996=) c.6604C>A (p.Arg2202=) c.4783C>A (p.Arg1595=) n.858C>A c.6004C>A (p.Arg2002=) c.5383C>A (p.Arg1795=) c.6103C>A (p.Arg2035=) c.6601C>A (p.Arg2201=) c.4198C>A (p.Arg1400=) | dbSNP ExAC gnomAD v2 gnomAD v4 |