| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47800967del | CA011285 | FBXO11,MSH6 | c.2687del (p.Glu896GlyfsTer2) c.2984del (p.Glu995GlyfsTer2) n.3068del c.1606+1378del (n.1606+1378del) c.2990del (p.Glu997GlyfsTer2) c.628-2453del (n.628-2453del) c.2141del (p.Glu714GlyfsTer2) c.2594del (p.Glu865GlyfsTer2) c.169+7228del (n.169+7228del) c.*124+7027del (n.*124+7027del) c.*2331del (n.*2331del) c.2078del (p.Glu693GlyfsTer2) c.2981del (p.Glu994GlyfsTer2) c.-113del (n.-113del) c.2801del (p.Glu934GlyfsTer2) | ClinVar dbSNP |
| 2 | g.47800967A= | CA2496050013 | FBXO11,MSH6 | c.2687A= (p.Glu896=) c.2984A= (p.Glu995=) n.3068A= c.1606+1378A= (n.1606+1378A=) c.2990A= (p.Glu997=) c.628-2453A= (n.628-2453A=) c.2141A= (p.Glu714=) c.2594A= (p.Glu865=) c.169+7228T= (n.169+7228T=) c.*124+7027T= (n.*124+7027T=) c.*2331A= (n.*2331A=) c.2078A= (p.Glu693=) c.2981A= (p.Glu994=) c.-113A= (n.-113A=) c.2801A= (p.Glu934=) | dbSNP dbSNP |