| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237347812G>A | CA10605124 | COL6A3 | c.6406C>T (p.Arg2136Ter) c.7024C>T (p.Arg2342Ter) c.5203C>T (p.Arg1735Ter) n.1278C>T c.6424C>T (p.Arg2142Ter) c.5803C>T (p.Arg1935Ter) c.6523C>T (p.Arg2175Ter) c.7021C>T (p.Arg2341Ter) c.4618C>T (p.Arg1540Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237347812G>C | CA351207018 | COL6A3 | c.6406C>G (p.Arg2136Gly) c.7024C>G (p.Arg2342Gly) c.5203C>G (p.Arg1735Gly) n.1278C>G c.6424C>G (p.Arg2142Gly) c.5803C>G (p.Arg1935Gly) c.6523C>G (p.Arg2175Gly) c.7021C>G (p.Arg2341Gly) c.4618C>G (p.Arg1540Gly) | dbSNP |
| 2 | g.237347812G= | CA1337612310 | COL6A3 | c.6406C= (p.Arg2136=) c.7024C= (p.Arg2342=) c.5203C= (p.Arg1735=) n.1278C= c.6424C= (p.Arg2142=) c.5803C= (p.Arg1935=) c.6523C= (p.Arg2175=) c.7021C= (p.Arg2341=) c.4618C= (p.Arg1540=) | dbSNP |