| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237381419G>A | CA257715 | COL6A3 | c.775C>T (p.Arg259Ter) n.166C>T c.1393C>T (p.Arg465Ter) c.172C>T (p.Arg58Ter) c.92-4075C>T (n.92-4075C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.237381419G>C | CA351218283 | COL6A3 | c.775C>G (p.Arg259Gly) n.166C>G c.1393C>G (p.Arg465Gly) c.172C>G (p.Arg58Gly) c.92-4075C>G (n.92-4075C>G) | dbSNP gnomAD v4 |
| 2 | g.237381419G= | CA1337627392 | COL6A3 | c.775C= (p.Arg259=) n.166C= c.1393C= (p.Arg465=) c.172C= (p.Arg58=) c.92-4075C= (n.92-4075C=) | dbSNP |