| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237344516C>T | CA200149 | COL6A3 | c.147G>A c.6884G>A (p.Arg2295His) c.7502G>A (p.Arg2501His) c.5678G>A (p.Arg1893His) c.5681G>A (p.Arg1894His) n.1756G>A c.6902G>A (p.Arg2301His) c.6281G>A (p.Arg2094His) c.7001G>A (p.Arg2334His) c.7499G>A (p.Arg2500His) c.5096G>A (p.Arg1699His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237344516C= | CA1337610914 | COL6A3 | c.147G= c.6884G= (p.Arg2295=) c.7502G= (p.Arg2501=) c.5678G= (p.Arg1893=) c.5681G= (p.Arg1894=) n.1756G= c.6902G= (p.Arg2301=) c.6281G= (p.Arg2094=) c.7001G= (p.Arg2334=) c.7499G= (p.Arg2500=) c.5096G= (p.Arg1699=) | dbSNP |