| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.52383437G>A | CA129049 | ORC1 | c.1996C>T (p.Arg666Trp) c.1981C>T (p.Arg661Trp) c.916C>T (p.Arg306Trp) c.1888C>T (p.Arg630Trp) c.1258C>T (p.Arg420Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.52383437G= | CA1143470646 | ORC1 | c.1996C= (p.Arg666=) c.1981C= (p.Arg661=) c.916C= (p.Arg306=) c.1888C= (p.Arg630=) c.1258C= (p.Arg420=) | dbSNP |