| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.5997388_5997393delinsCTTCACACACA | CA012703 | PMS2 | c.*299+1715_*299+1720delinsTGTGTGTGAAG (n.*299+1715_*299+1720delinsTGTGTGTGAAG) c.733_738delinsTGTGTGTGAAG (p.Pro245CysfsTer3) c.628_633delinsTGTGTGTGAAG (p.Pro210CysfsTer3) c.736_741delinsTGTGTGTGAAG (p.Pro246CysfsTer3) c.*330_*335delinsTGTGTGTGAAG (n.*330_*335delinsTGTGTGTGAAG) c.*135_*140delinsTGTGTGTGAAG (n.*135_*140delinsTGTGTGTGAAG) c.705+1715_705+1720delinsTGTGTGTGAAG (n.705+1715_705+1720delinsTGTGTGTGAAG) c.*323_*328delinsTGTGTGTGAAG (n.*323_*328delinsTGTGTGTGAAG) c.185_190delinsTGTGTGTGAAG (p.Ala62ValfsTer?) c.449_454delinsTGTGTGTGAAG (p.Ala150ValfsTer?) n.808_813delinsTGTGTGTGAAG c.418_423delinsTGTGTGTGAAG (p.Pro140CysfsTer3) c.331_336delinsTGTGTGTGAAG (p.Pro111CysfsTer3) c.163_168delinsTGTGTGTGAAG (p.Pro55CysfsTer3) n.849_854delinsTGTGTGTGAAG c.526+1715_526+1720delinsTGTGTGTGAAG c.*237_*242delinsTGTGTGTGAAG (n.*237_*242delinsTGTGTGTGAAG) c.269_274delinsTGTGTGTGAAG (p.Ala90ValfsTer25) c.*188_*193delinsTGTGTGTGAAG (n.*188_*193delinsTGTGTGTGAAG) c.*239_*244delinsTGTGTGTGAAG (n.*239_*244delinsTGTGTGTGAAG) c.568_573delinsTGTGTGTGAAG (p.Pro190CysfsTer3) n.648_653delinsTGTGTGTGAAG n.1019_1024delinsTGTGTGTGAAG n.816_821delinsTGTGTGTGAAG c.*636_*641delinsTGTGTGTGAAG (n.*636_*641delinsTGTGTGTGAAG) c.922_927delinsTGTGTGTGAAG (p.Pro308CysfsTer3) c.284_289delinsTGTGTGTGAAG (p.Ala95ValfsTer?) c.*185_*190delinsTGTGTGTGAAG (n.*185_*190delinsTGTGTGTGAAG) c.*372_*377delinsTGTGTGTGAAG (n.*372_*377delinsTGTGTGTGAAG) c.*104+1715_*104+1720delinsTGTGTGTGAAG (n.*104+1715_*104+1720delinsTGTGTGTGAAG) n.847_852delinsTGTGTGTGAAG n.736_741delinsTGTGTGTGAAG n.62+8600_62+8605delinsTGTGTGTGAAG n.818_823delinsTGTGTGTGAAG c.730_735delinsTGTGTGTGAAG (p.Pro244CysfsTer3) c.781_786delinsTGTGTGTGAAG (p.Pro261CysfsTer3) c.-198_-193delinsTGTGTGTGAAG (n.-198_-193delinsTGTGTGTGAAG) c.427_432delinsTGTGTGTGAAG (p.Pro143CysfsTer3) n.823_828delinsTGTGTGTGAAG c.-98_-93delinsTGTGTGTGAAG (n.-98_-93delinsTGTGTGTGAAG) | ClinVar dbSNP |
| 7 | g.5997388_5997393delinsCTTCACAAC | CA658657646 | PMS2 | c.*299+1715_*299+1720delinsGTTGTGAAG (n.*299+1715_*299+1720delinsGTTGTGAAG) c.733_738delinsGTTGTGAAG (p.Pro245_Pro246delinsValValLys) c.628_633delinsGTTGTGAAG (p.Pro210_Pro211delinsValValLys) c.736_741delinsGTTGTGAAG (p.Pro246_Pro247delinsValValLys) c.*330_*335delinsGTTGTGAAG (n.*330_*335delinsGTTGTGAAG) c.*135_*140delinsGTTGTGAAG (n.*135_*140delinsGTTGTGAAG) c.705+1715_705+1720delinsGTTGTGAAG (n.705+1715_705+1720delinsGTTGTGAAG) c.*323_*328delinsGTTGTGAAG (n.*323_*328delinsGTTGTGAAG) c.185_190delinsGTTGTGAAG (p.Ala62_Ter64delinsGlyCysGluGlu) c.449_454delinsGTTGTGAAG (p.Ala150_Ter152delinsGlyCysGluGlu) n.808_813delinsGTTGTGAAG c.418_423delinsGTTGTGAAG (p.Pro140_Pro141delinsValValLys) c.331_336delinsGTTGTGAAG (p.Pro111_Pro112delinsValValLys) c.163_168delinsGTTGTGAAG (p.Pro55_Pro56delinsValValLys) n.849_854delinsGTTGTGAAG c.526+1715_526+1720delinsGTTGTGAAG c.*237_*242delinsGTTGTGAAG (n.*237_*242delinsGTTGTGAAG) c.269_274delinsGTTGTGAAG (p.Ala90_Ter92delinsGlyCysGluGlu) c.*188_*193delinsGTTGTGAAG (n.*188_*193delinsGTTGTGAAG) c.*239_*244delinsGTTGTGAAG (n.*239_*244delinsGTTGTGAAG) c.568_573delinsGTTGTGAAG (p.Pro190_Pro191delinsValValLys) n.648_653delinsGTTGTGAAG n.1019_1024delinsGTTGTGAAG n.816_821delinsGTTGTGAAG c.*636_*641delinsGTTGTGAAG (n.*636_*641delinsGTTGTGAAG) c.922_927delinsGTTGTGAAG (p.Pro308_Pro309delinsValValLys) c.284_289delinsGTTGTGAAG (p.Ala95_Ter97delinsGlyCysGluGlu) c.*185_*190delinsGTTGTGAAG (n.*185_*190delinsGTTGTGAAG) c.*372_*377delinsGTTGTGAAG (n.*372_*377delinsGTTGTGAAG) c.*104+1715_*104+1720delinsGTTGTGAAG (n.*104+1715_*104+1720delinsGTTGTGAAG) n.847_852delinsGTTGTGAAG n.736_741delinsGTTGTGAAG n.62+8600_62+8605delinsGTTGTGAAG n.818_823delinsGTTGTGAAG c.730_735delinsGTTGTGAAG (p.Pro244_Pro245delinsValValLys) c.781_786delinsGTTGTGAAG (p.Pro261_Pro262delinsValValLys) c.-198_-193delinsGTTGTGAAG (n.-198_-193delinsGTTGTGAAG) c.427_432delinsGTTGTGAAG (p.Pro143_Pro144delinsValValLys) n.823_828delinsGTTGTGAAG c.-98_-93delinsGTTGTGAAG (n.-98_-93delinsGTTGTGAAG) | ClinVar dbSNP |