| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.40237664C>A | CA454832514 | SUGCT | c.514C>A (p.Arg172=) c.535C>A (p.Arg179=) c.519C>A c.424C>A (p.Arg142=) c.457C>A (p.Arg153=) c.412C>A (p.Arg138=) c.403C>A (p.Arg135=) | dbSNP COSMIC COSMIC |
| 7 | g.40237664C>T | CA115229 | SUGCT | c.514C>T (p.Arg172Ter) c.535C>T (p.Arg179Ter) c.519C>T c.424C>T (p.Arg142Ter) c.457C>T (p.Arg153Ter) c.412C>T (p.Arg138Ter) c.403C>T (p.Arg135Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |