| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237388145G>T | CA351224129 | COL6A3 | c.131C>A (p.Ser44Ter) n.86-6646C>A c.749C>A (p.Ser250Ter) c.92-6646C>A (n.92-6646C>A) c.91+8582C>A (n.91+8582C>A) | ClinVar dbSNP gnomAD v2 COSMIC |
| 2 | g.237388145G= | CA1337630342 | COL6A3 | c.131C= (p.Ser44=) n.86-6646C= c.749C= (p.Ser250=) c.92-6646C= (n.92-6646C=) c.91+8582C= (n.91+8582C=) | dbSNP |