| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237344754G>A | CA10575974 | COL6A3 | c.6646C>T (p.Arg2216Ter) c.7264C>T (p.Arg2422Ter) c.5440C>T (p.Arg1814Ter) c.5443C>T (p.Arg1815Ter) n.1518C>T c.6664C>T (p.Arg2222Ter) c.6043C>T (p.Arg2015Ter) c.6763C>T (p.Arg2255Ter) c.7261C>T (p.Arg2421Ter) c.4858C>T (p.Arg1620Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237344754G>C | CA10606750 | COL6A3 | c.6646C>G (p.Arg2216Gly) c.7264C>G (p.Arg2422Gly) c.5440C>G (p.Arg1814Gly) c.5443C>G (p.Arg1815Gly) n.1518C>G c.6664C>G (p.Arg2222Gly) c.6043C>G (p.Arg2015Gly) c.6763C>G (p.Arg2255Gly) c.7261C>G (p.Arg2421Gly) c.4858C>G (p.Arg1620Gly) | ClinVar dbSNP |