| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237361150G>A | CA205930 | COL6A3 | c.5563C>T (p.Arg1855Ter) c.6181C>T (p.Arg2061Ter) c.4360C>T (p.Arg1454Ter) c.5581C>T (p.Arg1861Ter) c.4960C>T (p.Arg1654Ter) c.5680C>T (p.Arg1894Ter) c.6178C>T (p.Arg2060Ter) c.3775C>T (p.Arg1259Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.237361150G= | CA1337618651 | COL6A3 | c.5563C= (p.Arg1855=) c.6181C= (p.Arg2061=) c.4360C= (p.Arg1454=) c.5581C= (p.Arg1861=) c.4960C= (p.Arg1654=) c.5680C= (p.Arg1894=) c.6178C= (p.Arg2060=) c.3775C= (p.Arg1259=) | dbSNP |