| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237377336G>A | CA2189382 | COL6A3 | c.1888C>T (p.Arg630Ter) c.2506C>T (p.Arg836Ter) c.685C>T (p.Arg229Ter) c.1285C>T (p.Arg429Ter) c.1906C>T (p.Arg636Ter) c.100C>T (p.Arg34Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.237377336G= | CA1337625685 | COL6A3 | c.1888C= (p.Arg630=) c.2506C= (p.Arg836=) c.685C= (p.Arg229=) c.1285C= (p.Arg429=) c.1906C= (p.Arg636=) c.100C= (p.Arg34=) | dbSNP |
| 2 | g.237377336G>T | CA431712181 | COL6A3 | c.1888C>A (p.Arg630=) c.2506C>A (p.Arg836=) c.685C>A (p.Arg229=) c.1285C>A (p.Arg429=) c.1906C>A (p.Arg636=) c.100C>A (p.Arg34=) | dbSNP gnomAD v4 |