| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107915522G>A | CA368856767 | DLD | c.701G>A (p.Arg234Lys) c.*375G>A (n.*375G>A) c.557G>A (p.Arg186Lys) c.632G>A (p.Arg211Lys) c.*444G>A (n.*444G>A) c.404G>A (p.Arg135Lys) | |
| 7 | g.107915522G>C | CA368856764 | DLD | c.701G>C (p.Arg234Thr) c.*375G>C (n.*375G>C) c.557G>C (p.Arg186Thr) c.632G>C (p.Arg211Thr) c.*444G>C (n.*444G>C) c.404G>C (p.Arg135Thr) | |
| 7 | g.107915522G>T | CA368856766 | DLD | c.701G>T (p.Arg234Ile) c.*375G>T (n.*375G>T) c.557G>T (p.Arg186Ile) c.632G>T (p.Arg211Ile) c.*444G>T (n.*444G>T) c.404G>T (p.Arg135Ile) | |
| 7 | g.107915523A>C | CA368856770 | DLD | c.702A>C (p.Arg234Ser) c.*376A>C (n.*376A>C) c.558A>C (p.Arg186Ser) c.633A>C (p.Arg211Ser) c.*445A>C (n.*445A>C) c.405A>C (p.Arg135Ser) | |
| 7 | g.107915523A>G | CA457108694 | DLD | c.702A>G (p.Arg234=) c.*376A>G (n.*376A>G) c.558A>G (p.Arg186=) c.633A>G (p.Arg211=) c.*445A>G (n.*445A>G) c.405A>G (p.Arg135=) | |
| 7 | g.107915523A>T | CA368856772 | DLD | c.702A>T (p.Arg234Ser) c.*376A>T (n.*376A>T) c.558A>T (p.Arg186Ser) c.633A>T (p.Arg211Ser) c.*445A>T (n.*445A>T) c.405A>T (p.Arg135Ser) | |
| 7 | g.107915524C>A | CA368856773 | DLD | c.703C>A (p.Leu235Ile) c.*377C>A (n.*377C>A) c.559C>A (p.Leu187Ile) c.634C>A (p.Leu212Ile) c.*446C>A (n.*446C>A) c.406C>A (p.Leu136Ile) | |
| 7 | g.107915524C= | CA1732859311 | DLD | c.703C= (p.Leu235=) c.*377C= (n.*377C=) c.559C= (p.Leu187=) c.634C= (p.Leu212=) c.*446C= (n.*446C=) c.406C= (p.Leu136=) | |
| 7 | g.107915524C>G | CA368856775 | DLD | c.703C>G (p.Leu235Val) c.*377C>G (n.*377C>G) c.559C>G (p.Leu187Val) c.634C>G (p.Leu212Val) c.*446C>G (n.*446C>G) c.406C>G (p.Leu136Val) | gnomAD v4 |
| 7 | g.107915524C>T | CA368856777 | DLD | c.703C>T (p.Leu235Phe) c.*377C>T (n.*377C>T) c.559C>T (p.Leu187Phe) c.634C>T (p.Leu212Phe) c.*446C>T (n.*446C>T) c.406C>T (p.Leu136Phe) | dbSNP gnomAD v4 |
| 7 | g.107915524_107915526delinsCTT | CA1732859310 | DLD | c.703_705delinsCTT (p.Leu235=) c.*377_*379delinsCTT (n.*377_*379delinsCTT) c.559_561delinsCTT (p.Leu187=) c.634_636delinsCTT (p.Leu212=) c.*446_*448delinsCTT (n.*446_*448delinsCTT) c.406_408delinsCTT (p.Leu136=) | |
| 7 | g.107915525T>A | CA368856783 | DLD | c.704T>A (p.Leu235His) c.*378T>A (n.*378T>A) c.560T>A (p.Leu187His) c.635T>A (p.Leu212His) c.*447T>A (n.*447T>A) c.407T>A (p.Leu136His) | |
| 7 | g.107915525T>C | CA368856785 | DLD | c.704T>C (p.Leu235Pro) c.*378T>C (n.*378T>C) c.560T>C (p.Leu187Pro) c.635T>C (p.Leu212Pro) c.*447T>C (n.*447T>C) c.407T>C (p.Leu136Pro) | |
| 7 | g.107915525T>G | CA368856781 | DLD | c.704T>G (p.Leu235Arg) c.*378T>G (n.*378T>G) c.560T>G (p.Leu187Arg) c.635T>G (p.Leu212Arg) c.*447T>G (n.*447T>G) c.407T>G (p.Leu136Arg) | |
| 7 | g.107915525_107915526del | CA4434550 | DLD | c.704_705del (p.Leu235ArgfsTer8) c.*378_*379del (n.*378_*379del) c.560_561del (p.Leu187ArgfsTer8) c.635_636del (p.Leu212ArgfsTer8) c.*447_*448del (n.*447_*448del) c.407_408del (p.Leu136ArgfsTer8) | dbSNP ExAC gnomAD v2 |
| 7 | g.107915526T>A | CA457108699 | DLD | c.705T>A (p.Leu235=) c.*379T>A (n.*379T>A) c.561T>A (p.Leu187=) c.636T>A (p.Leu212=) c.*448T>A (n.*448T>A) c.408T>A (p.Leu136=) | |
| 7 | g.107915526T>C | CA457108700 | DLD | c.705T>C (p.Leu235=) c.*379T>C (n.*379T>C) c.561T>C (p.Leu187=) c.636T>C (p.Leu212=) c.*448T>C (n.*448T>C) c.408T>C (p.Leu136=) | |
| 7 | g.107915526T>G | CA457108702 | DLD | c.705T>G (p.Leu235=) c.*379T>G (n.*379T>G) c.561T>G (p.Leu187=) c.636T>G (p.Leu212=) c.*448T>G (n.*448T>G) c.408T>G (p.Leu136=) | |
| 7 | g.107915527G>A | CA368856788 | DLD | c.706G>A (p.Gly236Ser) c.*380G>A (n.*380G>A) c.562G>A (p.Gly188Ser) c.637G>A (p.Gly213Ser) c.*449G>A (n.*449G>A) c.409G>A (p.Gly137Ser) | |
| 7 | g.107915527G>C | CA368856787 | DLD | c.706G>C (p.Gly236Arg) c.*380G>C (n.*380G>C) c.562G>C (p.Gly188Arg) c.637G>C (p.Gly213Arg) c.*449G>C (n.*449G>C) c.409G>C (p.Gly137Arg) | |
| 7 | g.107915527G>T | CA368856791 | DLD | c.706G>T (p.Gly236Cys) c.*380G>T (n.*380G>T) c.562G>T (p.Gly188Cys) c.637G>T (p.Gly213Cys) c.*449G>T (n.*449G>T) c.409G>T (p.Gly137Cys) | COSMIC COSMIC |
| 7 | g.107915528G>A | CA368856793 | DLD | c.707G>A (p.Gly236Asp) c.*381G>A (n.*381G>A) c.563G>A (p.Gly188Asp) c.638G>A (p.Gly213Asp) c.*450G>A (n.*450G>A) c.410G>A (p.Gly137Asp) | |
| 7 | g.107915528G>C | CA368856794 | DLD | c.707G>C (p.Gly236Ala) c.*381G>C (n.*381G>C) c.563G>C (p.Gly188Ala) c.638G>C (p.Gly213Ala) c.*450G>C (n.*450G>C) c.410G>C (p.Gly137Ala) | |
| 7 | g.107915528G>T | CA368856795 | DLD | c.707G>T (p.Gly236Val) c.*381G>T (n.*381G>T) c.563G>T (p.Gly188Val) c.638G>T (p.Gly213Val) c.*450G>T (n.*450G>T) c.410G>T (p.Gly137Val) | |
| 7 | g.107915529T>A | CA457108707 | DLD | c.708T>A (p.Gly236=) c.*382T>A (n.*382T>A) c.564T>A (p.Gly188=) c.639T>A (p.Gly213=) c.*451T>A (n.*451T>A) c.411T>A (p.Gly137=) | |
| 7 | g.107915529T>C | CA457108708 | DLD | c.708T>C (p.Gly236=) c.*382T>C (n.*382T>C) c.564T>C (p.Gly188=) c.639T>C (p.Gly213=) c.*451T>C (n.*451T>C) c.411T>C (p.Gly137=) | |
| 7 | g.107915529T>G | CA457108709 | DLD | c.708T>G (p.Gly236=) c.*382T>G (n.*382T>G) c.564T>G (p.Gly188=) c.639T>G (p.Gly213=) c.*451T>G (n.*451T>G) c.411T>G (p.Gly137=) | |
| 7 | g.107915530G>A | CA368856797 | DLD | c.709G>A (p.Ala237Thr) c.*383G>A (n.*383G>A) c.565G>A (p.Ala189Thr) c.640G>A (p.Ala214Thr) c.*452G>A (n.*452G>A) c.412G>A (p.Ala138Thr) | |
| 7 | g.107915530G>C | CA368856798 | DLD | c.709G>C (p.Ala237Pro) c.*383G>C (n.*383G>C) c.565G>C (p.Ala189Pro) c.640G>C (p.Ala214Pro) c.*452G>C (n.*452G>C) c.412G>C (p.Ala138Pro) | |
| 7 | g.107915530G>T | CA368856800 | DLD | c.709G>T (p.Ala237Ser) c.*383G>T (n.*383G>T) c.565G>T (p.Ala189Ser) c.640G>T (p.Ala214Ser) c.*452G>T (n.*452G>T) c.412G>T (p.Ala138Ser) | |
| 7 | g.107915531C>A | CA368856802 | DLD | c.710C>A (p.Ala237Glu) c.*384C>A (n.*384C>A) c.566C>A (p.Ala189Glu) c.641C>A (p.Ala214Glu) c.*453C>A (n.*453C>A) c.413C>A (p.Ala138Glu) | |
| 7 | g.107915531C= | CA1732859312 | DLD | c.710C= (p.Ala237=) c.*384C= (n.*384C=) c.566C= (p.Ala189=) c.641C= (p.Ala214=) c.*453C= (n.*453C=) c.413C= (p.Ala138=) | |
| 7 | g.107915531C>G | CA368856804 | DLD | c.710C>G (p.Ala237Gly) c.*384C>G (n.*384C>G) c.566C>G (p.Ala189Gly) c.641C>G (p.Ala214Gly) c.*453C>G (n.*453C>G) c.413C>G (p.Ala138Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915531C>T | CA368856806 | DLD | c.710C>T (p.Ala237Val) c.*384C>T (n.*384C>T) c.566C>T (p.Ala189Val) c.641C>T (p.Ala214Val) c.*453C>T (n.*453C>T) c.413C>T (p.Ala138Val) | |
| 7 | g.107915532A>C | CA457108714 | DLD | c.711A>C (p.Ala237=) c.*385A>C (n.*385A>C) c.567A>C (p.Ala189=) c.642A>C (p.Ala214=) c.*454A>C (n.*454A>C) c.414A>C (p.Ala138=) | |
| 7 | g.107915532A>G | CA457108715 | DLD | c.711A>G (p.Ala237=) c.*385A>G (n.*385A>G) c.567A>G (p.Ala189=) c.642A>G (p.Ala214=) c.*454A>G (n.*454A>G) c.414A>G (p.Ala138=) | |
| 7 | g.107915532A>T | CA457108716 | DLD | c.711A>T (p.Ala237=) c.*385A>T (n.*385A>T) c.567A>T (p.Ala189=) c.642A>T (p.Ala214=) c.*454A>T (n.*454A>T) c.414A>T (p.Ala138=) | |
| 7 | g.107915533G>A | CA368856808 | DLD | c.712G>A (p.Asp238Asn) c.*386G>A (n.*386G>A) c.568G>A (p.Asp190Asn) c.643G>A (p.Asp215Asn) c.*455G>A (n.*455G>A) c.415G>A (p.Asp139Asn) | |
| 7 | g.107915533G>C | CA368856810 | DLD | c.712G>C (p.Asp238His) c.*386G>C (n.*386G>C) c.568G>C (p.Asp190His) c.643G>C (p.Asp215His) c.*455G>C (n.*455G>C) c.415G>C (p.Asp139His) | |
| 7 | g.107915533G>T | CA368856812 | DLD | c.712G>T (p.Asp238Tyr) c.*386G>T (n.*386G>T) c.568G>T (p.Asp190Tyr) c.643G>T (p.Asp215Tyr) c.*455G>T (n.*455G>T) c.415G>T (p.Asp139Tyr) | |
| 7 | g.107915534A>C | CA368856818 | DLD | c.713A>C (p.Asp238Ala) c.*387A>C (n.*387A>C) c.569A>C (p.Asp190Ala) c.644A>C (p.Asp215Ala) c.*456A>C (n.*456A>C) c.416A>C (p.Asp139Ala) | |
| 7 | g.107915534A>G | CA368856814 | DLD | c.713A>G (p.Asp238Gly) c.*387A>G (n.*387A>G) c.569A>G (p.Asp190Gly) c.644A>G (p.Asp215Gly) c.*456A>G (n.*456A>G) c.416A>G (p.Asp139Gly) | |
| 7 | g.107915534A>T | CA368856816 | DLD | c.713A>T (p.Asp238Val) c.*387A>T (n.*387A>T) c.569A>T (p.Asp190Val) c.644A>T (p.Asp215Val) c.*456A>T (n.*456A>T) c.416A>T (p.Asp139Val) | |
| 7 | g.107915535T>A | CA368856820 | DLD | c.714T>A (p.Asp238Glu) c.*388T>A (n.*388T>A) c.570T>A (p.Asp190Glu) c.645T>A (p.Asp215Glu) c.*457T>A (n.*457T>A) c.417T>A (p.Asp139Glu) | |
| 7 | g.107915535T>C | CA457108720 | DLD | c.714T>C (p.Asp238=) c.*388T>C (n.*388T>C) c.570T>C (p.Asp190=) c.645T>C (p.Asp215=) c.*457T>C (n.*457T>C) c.417T>C (p.Asp139=) | |
| 7 | g.107915535T>G | CA368856821 | DLD | c.714T>G (p.Asp238Glu) c.*388T>G (n.*388T>G) c.570T>G (p.Asp190Glu) c.645T>G (p.Asp215Glu) c.*457T>G (n.*457T>G) c.417T>G (p.Asp139Glu) | |
| 7 | g.107915536G>A | CA368856824 | DLD | c.715G>A (p.Val239Met) c.*389G>A (n.*389G>A) c.571G>A (p.Val191Met) c.646G>A (p.Val216Met) c.*458G>A (n.*458G>A) c.418G>A (p.Val140Met) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915536G>C | CA368856826 | DLD | c.715G>C (p.Val239Leu) c.*389G>C (n.*389G>C) c.571G>C (p.Val191Leu) c.646G>C (p.Val216Leu) c.*458G>C (n.*458G>C) c.418G>C (p.Val140Leu) | |
| 7 | g.107915536G= | CA1732859313 | DLD | c.715G= (p.Val239=) c.*389G= (n.*389G=) c.571G= (p.Val191=) c.646G= (p.Val216=) c.*458G= (n.*458G=) c.418G= (p.Val140=) | |
| 7 | g.107915536G>T | CA368856827 | DLD | c.715G>T (p.Val239Leu) c.*389G>T (n.*389G>T) c.571G>T (p.Val191Leu) c.646G>T (p.Val216Leu) c.*458G>T (n.*458G>T) c.418G>T (p.Val140Leu) | |
| 7 | g.107915537T>A | CA368856830 | DLD | c.716T>A (p.Val239Glu) c.*390T>A (n.*390T>A) c.572T>A (p.Val191Glu) c.647T>A (p.Val216Glu) c.*459T>A (n.*459T>A) c.419T>A (p.Val140Glu) | |
| 7 | g.107915537T>C | CA368856831 | DLD | c.716T>C (p.Val239Ala) c.*390T>C (n.*390T>C) c.572T>C (p.Val191Ala) c.647T>C (p.Val216Ala) c.*459T>C (n.*459T>C) c.419T>C (p.Val140Ala) | |
| 7 | g.107915537T>G | CA368856833 | DLD | c.716T>G (p.Val239Gly) c.*390T>G (n.*390T>G) c.572T>G (p.Val191Gly) c.647T>G (p.Val216Gly) c.*459T>G (n.*459T>G) c.419T>G (p.Val140Gly) | |
| 7 | g.107915538G>A | CA457108723 | DLD | c.717G>A (p.Val239=) c.*391G>A (n.*391G>A) c.573G>A (p.Val191=) c.648G>A (p.Val216=) c.*460G>A (n.*460G>A) c.420G>A (p.Val140=) | |
| 7 | g.107915538G>C | CA457108725 | DLD | c.717G>C (p.Val239=) c.*391G>C (n.*391G>C) c.573G>C (p.Val191=) c.648G>C (p.Val216=) c.*460G>C (n.*460G>C) c.420G>C (p.Val140=) | |
| 7 | g.107915538G>T | CA457108727 | DLD | c.717G>T (p.Val239=) c.*391G>T (n.*391G>T) c.573G>T (p.Val191=) c.648G>T (p.Val216=) c.*460G>T (n.*460G>T) c.420G>T (p.Val140=) | |
| 7 | g.107915539A>C | CA368856835 | DLD | c.718A>C (p.Thr240Pro) c.*392A>C (n.*392A>C) c.574A>C (p.Thr192Pro) c.649A>C (p.Thr217Pro) c.*461A>C (n.*461A>C) c.421A>C (p.Thr141Pro) | |
| 7 | g.107915539A>G | CA368856837 | DLD | c.718A>G (p.Thr240Ala) c.*392A>G (n.*392A>G) c.574A>G (p.Thr192Ala) c.649A>G (p.Thr217Ala) c.*461A>G (n.*461A>G) c.421A>G (p.Thr141Ala) | gnomAD v4 |
| 7 | g.107915539A>T | CA368856839 | DLD | c.718A>T (p.Thr240Ser) c.*392A>T (n.*392A>T) c.574A>T (p.Thr192Ser) c.649A>T (p.Thr217Ser) c.*461A>T (n.*461A>T) c.421A>T (p.Thr141Ser) | |
| 7 | g.107915540C>A | CA368856843 | DLD | c.719C>A (p.Thr240Lys) c.*393C>A (n.*393C>A) c.575C>A (p.Thr192Lys) c.650C>A (p.Thr217Lys) c.*462C>A (n.*462C>A) c.422C>A (p.Thr141Lys) | |
| 7 | g.107915540C= | CA1732859314 | DLD | c.719C= (p.Thr240=) c.*393C= (n.*393C=) c.575C= (p.Thr192=) c.650C= (p.Thr217=) c.*462C= (n.*462C=) c.422C= (p.Thr141=) | |
| 7 | g.107915540C>G | CA368856845 | DLD | c.719C>G (p.Thr240Arg) c.*393C>G (n.*393C>G) c.575C>G (p.Thr192Arg) c.650C>G (p.Thr217Arg) c.*462C>G (n.*462C>G) c.422C>G (p.Thr141Arg) | |
| 7 | g.107915540C>T | CA368856841 | DLD | c.719C>T (p.Thr240Ile) c.*393C>T (n.*393C>T) c.575C>T (p.Thr192Ile) c.650C>T (p.Thr217Ile) c.*462C>T (n.*462C>T) c.422C>T (p.Thr141Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915541A= | CA1732859315 | DLD | c.720A= (p.Thr240=) c.*394A= (n.*394A=) c.576A= (p.Thr192=) c.651A= (p.Thr217=) c.*463A= (n.*463A=) c.423A= (p.Thr141=) | |
| 7 | g.107915541A>C | CA457108732 | DLD | c.720A>C (p.Thr240=) c.*394A>C (n.*394A>C) c.576A>C (p.Thr192=) c.651A>C (p.Thr217=) c.*463A>C (n.*463A>C) c.423A>C (p.Thr141=) | |
| 7 | g.107915541A>G | CA457108736 | DLD | c.720A>G (p.Thr240=) c.*394A>G (n.*394A>G) c.576A>G (p.Thr192=) c.651A>G (p.Thr217=) c.*463A>G (n.*463A>G) c.423A>G (p.Thr141=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915541A>T | CA457108734 | DLD | c.720A>T (p.Thr240=) c.*394A>T (n.*394A>T) c.576A>T (p.Thr192=) c.651A>T (p.Thr217=) c.*463A>T (n.*463A>T) c.423A>T (p.Thr141=) | |
| 7 | g.107915542G>A | CA368856847 | DLD | c.721G>A (p.Ala241Thr) c.*395G>A (n.*395G>A) c.577G>A (p.Ala193Thr) c.652G>A (p.Ala218Thr) c.*464G>A (n.*464G>A) c.424G>A (p.Ala142Thr) | gnomAD v4 COSMIC COSMIC |
| 7 | g.107915542G>C | CA368856849 | DLD | c.721G>C (p.Ala241Pro) c.*395G>C (n.*395G>C) c.577G>C (p.Ala193Pro) c.652G>C (p.Ala218Pro) c.*464G>C (n.*464G>C) c.424G>C (p.Ala142Pro) | |
| 7 | g.107915542G>T | CA368856851 | DLD | c.721G>T (p.Ala241Ser) c.*395G>T (n.*395G>T) c.577G>T (p.Ala193Ser) c.652G>T (p.Ala218Ser) c.*464G>T (n.*464G>T) c.424G>T (p.Ala142Ser) | |
| 7 | g.107915543C>A | CA368856853 | DLD | c.722C>A (p.Ala241Glu) c.*396C>A (n.*396C>A) c.578C>A (p.Ala193Glu) c.653C>A (p.Ala218Glu) c.*465C>A (n.*465C>A) c.425C>A (p.Ala142Glu) | |
| 7 | g.107915543C= | CA1732859316 | DLD | c.722C= (p.Ala241=) c.*396C= (n.*396C=) c.578C= (p.Ala193=) c.653C= (p.Ala218=) c.*465C= (n.*465C=) c.425C= (p.Ala142=) | |
| 7 | g.107915543C>G | CA368856855 | DLD | c.722C>G (p.Ala241Gly) c.*396C>G (n.*396C>G) c.578C>G (p.Ala193Gly) c.653C>G (p.Ala218Gly) c.*465C>G (n.*465C>G) c.425C>G (p.Ala142Gly) | |
| 7 | g.107915543C>T | CA312462 | DLD | c.722C>T (p.Ala241Val) c.*396C>T (n.*396C>T) c.578C>T (p.Ala193Val) c.653C>T (p.Ala218Val) c.*465C>T (n.*465C>T) c.425C>T (p.Ala142Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107915544A= | CA1732859317 | DLD | c.723A= (p.Ala241=) c.*397A= (n.*397A=) c.579A= (p.Ala193=) c.654A= (p.Ala218=) c.*466A= (n.*466A=) c.426A= (p.Ala142=) | |
| 7 | g.107915544A>C | CA4434551 | DLD | c.723A>C (p.Ala241=) c.*397A>C (n.*397A>C) c.579A>C (p.Ala193=) c.654A>C (p.Ala218=) c.*466A>C (n.*466A>C) c.426A>C (p.Ala142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915544A>G | CA457108738 | DLD | c.723A>G (p.Ala241=) c.*397A>G (n.*397A>G) c.579A>G (p.Ala193=) c.654A>G (p.Ala218=) c.*466A>G (n.*466A>G) c.426A>G (p.Ala142=) | ClinVar dbSNP |
| 7 | g.107915544A>T | CA457108737 | DLD | c.723A>T (p.Ala241=) c.*397A>T (n.*397A>T) c.579A>T (p.Ala193=) c.654A>T (p.Ala218=) c.*466A>T (n.*466A>T) c.426A>T (p.Ala142=) | |
| 7 | g.107915545G>A | CA368856858 | DLD | c.724G>A (p.Val242Ile) c.*398G>A (n.*398G>A) c.580G>A (p.Val194Ile) c.655G>A (p.Val219Ile) c.*467G>A (n.*467G>A) c.427G>A (p.Val143Ile) | |
| 7 | g.107915545G>C | CA368856860 | DLD | c.724G>C (p.Val242Leu) c.*398G>C (n.*398G>C) c.580G>C (p.Val194Leu) c.655G>C (p.Val219Leu) c.*467G>C (n.*467G>C) c.427G>C (p.Val143Leu) | |
| 7 | g.107915545G>T | CA368856862 | DLD | c.724G>T (p.Val242Phe) c.*398G>T (n.*398G>T) c.580G>T (p.Val194Phe) c.655G>T (p.Val219Phe) c.*467G>T (n.*467G>T) c.427G>T (p.Val143Phe) | |
| 7 | g.107915546T>A | CA368856864 | DLD | c.725T>A (p.Val242Asp) c.*399T>A (n.*399T>A) c.581T>A (p.Val194Asp) c.656T>A (p.Val219Asp) c.*468T>A (n.*468T>A) c.428T>A (p.Val143Asp) | |
| 7 | g.107915546T>C | CA368856866 | DLD | c.725T>C (p.Val242Ala) c.*399T>C (n.*399T>C) c.581T>C (p.Val194Ala) c.656T>C (p.Val219Ala) c.*468T>C (n.*468T>C) c.428T>C (p.Val143Ala) | dbSNP gnomAD v4 |
| 7 | g.107915546T>G | CA368856868 | DLD | c.725T>G (p.Val242Gly) c.*399T>G (n.*399T>G) c.581T>G (p.Val194Gly) c.656T>G (p.Val219Gly) c.*468T>G (n.*468T>G) c.428T>G (p.Val143Gly) | |
| 7 | g.107915546T= | CA1732859318 | DLD | c.725T= (p.Val242=) c.*399T= (n.*399T=) c.581T= (p.Val194=) c.656T= (p.Val219=) c.*468T= (n.*468T=) c.428T= (p.Val143=) | |
| 7 | g.107915547T>A | CA457108739 | DLD | c.726T>A (p.Val242=) c.*400T>A (n.*400T>A) c.582T>A (p.Val194=) c.657T>A (p.Val219=) c.*469T>A (n.*469T>A) c.429T>A (p.Val143=) | |
| 7 | g.107915547T>C | CA457108740 | DLD | c.726T>C (p.Val242=) c.*400T>C (n.*400T>C) c.582T>C (p.Val194=) c.657T>C (p.Val219=) c.*469T>C (n.*469T>C) c.429T>C (p.Val143=) | |
| 7 | g.107915547T>G | CA457108741 | DLD | c.726T>G (p.Val242=) c.*400T>G (n.*400T>G) c.582T>G (p.Val194=) c.657T>G (p.Val219=) c.*469T>G (n.*469T>G) c.429T>G (p.Val143=) | |
| 7 | g.107915548G>A | CA368856877 | DLD | c.727G>A (p.Glu243Lys) c.*401G>A (n.*401G>A) c.583G>A (p.Glu195Lys) c.658G>A (p.Glu220Lys) c.*470G>A (n.*470G>A) c.430G>A (p.Glu144Lys) | |
| 7 | g.107915548G>C | CA368856875 | DLD | c.727G>C (p.Glu243Gln) c.*401G>C (n.*401G>C) c.583G>C (p.Glu195Gln) c.658G>C (p.Glu220Gln) c.*470G>C (n.*470G>C) c.430G>C (p.Glu144Gln) | dbSNP gnomAD v2 |
| 7 | g.107915548G= | CA1732859319 | DLD | c.727G= (p.Glu243=) c.*401G= (n.*401G=) c.583G= (p.Glu195=) c.658G= (p.Glu220=) c.*470G= (n.*470G=) c.430G= (p.Glu144=) | |
| 7 | g.107915548G>T | CA368856870 | DLD | c.727G>T (p.Glu243Ter) c.*401G>T (n.*401G>T) c.583G>T (p.Glu195Ter) c.658G>T (p.Glu220Ter) c.*470G>T (n.*470G>T) c.430G>T (p.Glu144Ter) | |
| 7 | g.107915549A>C | CA368856880 | DLD | c.728A>C (p.Glu243Ala) c.*402A>C (n.*402A>C) c.584A>C (p.Glu195Ala) c.659A>C (p.Glu220Ala) c.*471A>C (n.*471A>C) c.431A>C (p.Glu144Ala) | |
| 7 | g.107915549A>G | CA368856882 | DLD | c.728A>G (p.Glu243Gly) c.*402A>G (n.*402A>G) c.584A>G (p.Glu195Gly) c.659A>G (p.Glu220Gly) c.*471A>G (n.*471A>G) c.431A>G (p.Glu144Gly) | |
| 7 | g.107915549A>T | CA368856884 | DLD | c.728A>T (p.Glu243Val) c.*402A>T (n.*402A>T) c.584A>T (p.Glu195Val) c.659A>T (p.Glu220Val) c.*471A>T (n.*471A>T) c.431A>T (p.Glu144Val) | |
| 7 | g.107915550A= | CA1732859320 | DLD | c.729A= (p.Glu243=) c.*403A= (n.*403A=) c.585A= (p.Glu195=) c.660A= (p.Glu220=) c.*472A= (n.*472A=) c.432A= (p.Glu144=) | |
| 7 | g.107915550A>C | CA368856886 | DLD | c.729A>C (p.Glu243Asp) c.*403A>C (n.*403A>C) c.585A>C (p.Glu195Asp) c.660A>C (p.Glu220Asp) c.*472A>C (n.*472A>C) c.432A>C (p.Glu144Asp) | |
| 7 | g.107915550A>G | CA457108745 | DLD | c.729A>G (p.Glu243=) c.*403A>G (n.*403A>G) c.585A>G (p.Glu195=) c.660A>G (p.Glu220=) c.*472A>G (n.*472A>G) c.432A>G (p.Glu144=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107915550A>T | CA368856887 | DLD | c.729A>T (p.Glu243Asp) c.*403A>T (n.*403A>T) c.585A>T (p.Glu195Asp) c.660A>T (p.Glu220Asp) c.*472A>T (n.*472A>T) c.432A>T (p.Glu144Asp) | |
| 7 | g.107915551T>A | CA368856890 | DLD | c.730T>A (p.Phe244Ile) c.*404T>A (n.*404T>A) c.586T>A (p.Phe196Ile) c.661T>A (p.Phe221Ile) c.*473T>A (n.*473T>A) c.433T>A (p.Phe145Ile) | |
| 7 | g.107915551T>C | CA368856891 | DLD | c.730T>C (p.Phe244Leu) c.*404T>C (n.*404T>C) c.586T>C (p.Phe196Leu) c.661T>C (p.Phe221Leu) c.*473T>C (n.*473T>C) c.433T>C (p.Phe145Leu) | |
| 7 | g.107915551T>G | CA368856893 | DLD | c.730T>G (p.Phe244Val) c.*404T>G (n.*404T>G) c.586T>G (p.Phe196Val) c.661T>G (p.Phe221Val) c.*473T>G (n.*473T>G) c.433T>G (p.Phe145Val) | gnomAD v4 |
| 7 | g.107915555del | CA457108747 | DLD | c.734del (p.Leu245Ter) c.*408del (n.*408del) c.590del (p.Leu197Ter) c.665del (p.Leu222Ter) c.*477del (n.*477del) c.437del (p.Leu146Ter) | COSMIC COSMIC |
| 7 | g.107915552T>A | CA368856896 | DLD | c.731T>A (p.Phe244Tyr) c.*405T>A (n.*405T>A) c.587T>A (p.Phe196Tyr) c.662T>A (p.Phe221Tyr) c.*474T>A (n.*474T>A) c.434T>A (p.Phe145Tyr) | |
| 7 | g.107915552T>C | CA368856897 | DLD | c.731T>C (p.Phe244Ser) c.*405T>C (n.*405T>C) c.587T>C (p.Phe196Ser) c.662T>C (p.Phe221Ser) c.*474T>C (n.*474T>C) c.434T>C (p.Phe145Ser) | |
| 7 | g.107915552T>G | CA368856899 | DLD | c.731T>G (p.Phe244Cys) c.*405T>G (n.*405T>G) c.587T>G (p.Phe196Cys) c.662T>G (p.Phe221Cys) c.*474T>G (n.*474T>G) c.434T>G (p.Phe145Cys) | |
| 7 | g.107915553T>A | CA368856901 | DLD | c.732T>A (p.Phe244Leu) c.*406T>A (n.*406T>A) c.588T>A (p.Phe196Leu) c.663T>A (p.Phe221Leu) c.*475T>A (n.*475T>A) c.435T>A (p.Phe145Leu) | |
| 7 | g.107915553T>C | CA457108751 | DLD | c.732T>C (p.Phe244=) c.*406T>C (n.*406T>C) c.588T>C (p.Phe196=) c.663T>C (p.Phe221=) c.*475T>C (n.*475T>C) c.435T>C (p.Phe145=) | |
| 7 | g.107915553T>G | CA368856903 | DLD | c.732T>G (p.Phe244Leu) c.*406T>G (n.*406T>G) c.588T>G (p.Phe196Leu) c.663T>G (p.Phe221Leu) c.*475T>G (n.*475T>G) c.435T>G (p.Phe145Leu) | |
| 7 | g.107915554T>A | CA368856905 | DLD | c.733T>A (p.Leu245Ile) c.*407T>A (n.*407T>A) c.589T>A (p.Leu197Ile) c.664T>A (p.Leu222Ile) c.*476T>A (n.*476T>A) c.436T>A (p.Leu146Ile) | |
| 7 | g.107915554T>C | CA457108752 | DLD | c.733T>C (p.Leu245=) c.*407T>C (n.*407T>C) c.589T>C (p.Leu197=) c.664T>C (p.Leu222=) c.*476T>C (n.*476T>C) c.436T>C (p.Leu146=) | |
| 7 | g.107915554T>G | CA368856907 | DLD | c.733T>G (p.Leu245Val) c.*407T>G (n.*407T>G) c.589T>G (p.Leu197Val) c.664T>G (p.Leu222Val) c.*476T>G (n.*476T>G) c.436T>G (p.Leu146Val) | |
| 7 | g.107915555T>A | CA368856909 | DLD | c.734T>A (p.Leu245Ter) c.*408T>A (n.*408T>A) c.590T>A (p.Leu197Ter) c.665T>A (p.Leu222Ter) c.*477T>A (n.*477T>A) c.437T>A (p.Leu146Ter) | |
| 7 | g.107915555T>C | CA368856911 | DLD | c.734T>C (p.Leu245Ser) c.*408T>C (n.*408T>C) c.590T>C (p.Leu197Ser) c.665T>C (p.Leu222Ser) c.*477T>C (n.*477T>C) c.437T>C (p.Leu146Ser) | |
| 7 | g.107915555T>G | CA368856913 | DLD | c.734T>G (p.Leu245Ter) c.*408T>G (n.*408T>G) c.590T>G (p.Leu197Ter) c.665T>G (p.Leu222Ter) c.*477T>G (n.*477T>G) c.437T>G (p.Leu146Ter) | |
| 7 | g.107915556A= | CA1732859321 | DLD | c.735A= (p.Leu245=) c.*409A= (n.*409A=) c.591A= (p.Leu197=) c.666A= (p.Leu222=) c.*478A= (n.*478A=) c.438A= (p.Leu146=) | |
| 7 | g.107915556A>C | CA368856915 | DLD | c.735A>C (p.Leu245Phe) c.*409A>C (n.*409A>C) c.591A>C (p.Leu197Phe) c.666A>C (p.Leu222Phe) c.*478A>C (n.*478A>C) c.438A>C (p.Leu146Phe) | |
| 7 | g.107915556A>G | CA4434552 | DLD | c.735A>G (p.Leu245=) c.*409A>G (n.*409A>G) c.591A>G (p.Leu197=) c.666A>G (p.Leu222=) c.*478A>G (n.*478A>G) c.438A>G (p.Leu146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915556A>T | CA368856918 | DLD | c.735A>T (p.Leu245Phe) c.*409A>T (n.*409A>T) c.591A>T (p.Leu197Phe) c.666A>T (p.Leu222Phe) c.*478A>T (n.*478A>T) c.438A>T (p.Leu146Phe) | gnomAD v4 |
| 7 | g.107915557G>A | CA368856923 | DLD | c.736G>A (p.Gly246Ser) c.*410G>A (n.*410G>A) c.592G>A (p.Gly198Ser) c.667G>A (p.Gly223Ser) c.*479G>A (n.*479G>A) c.439G>A (p.Gly147Ser) | |
| 7 | g.107915557G>C | CA368856921 | DLD | c.736G>C (p.Gly246Arg) c.*410G>C (n.*410G>C) c.592G>C (p.Gly198Arg) c.667G>C (p.Gly223Arg) c.*479G>C (n.*479G>C) c.439G>C (p.Gly147Arg) | |
| 7 | g.107915557G>T | CA368856920 | DLD | c.736G>T (p.Gly246Cys) c.*410G>T (n.*410G>T) c.592G>T (p.Gly198Cys) c.667G>T (p.Gly223Cys) c.*479G>T (n.*479G>T) c.439G>T (p.Gly147Cys) | gnomAD v4 |
| 7 | g.107915558del | CA2695199604 | DLD | c.737del (p.Gly246ValfsTer3) c.*411del (n.*411del) c.593del (p.Gly198ValfsTer3) c.668del (p.Gly223ValfsTer3) c.*480del (n.*480del) c.440del (p.Gly147ValfsTer3) | ClinVar |
| 7 | g.107915558G>A | CA368856925 | DLD | c.737G>A (p.Gly246Asp) c.*411G>A (n.*411G>A) c.593G>A (p.Gly198Asp) c.668G>A (p.Gly223Asp) c.*480G>A (n.*480G>A) c.440G>A (p.Gly147Asp) | dbSNP gnomAD v4 |
| 7 | g.107915558G>C | CA368856927 | DLD | c.737G>C (p.Gly246Ala) c.*411G>C (n.*411G>C) c.593G>C (p.Gly198Ala) c.668G>C (p.Gly223Ala) c.*480G>C (n.*480G>C) c.440G>C (p.Gly147Ala) | COSMIC COSMIC |
| 7 | g.107915558G= | CA1732859322 | DLD | c.737G= (p.Gly246=) c.*411G= (n.*411G=) c.593G= (p.Gly198=) c.668G= (p.Gly223=) c.*480G= (n.*480G=) c.440G= (p.Gly147=) | |
| 7 | g.107915558G>T | CA368856929 | DLD | c.737G>T (p.Gly246Val) c.*411G>T (n.*411G>T) c.593G>T (p.Gly198Val) c.668G>T (p.Gly223Val) c.*480G>T (n.*480G>T) c.440G>T (p.Gly147Val) | |
| 7 | g.107915559T>A | CA457108757 | DLD | c.738T>A (p.Gly246=) c.*412T>A (n.*412T>A) c.594T>A (p.Gly198=) c.669T>A (p.Gly223=) c.*481T>A (n.*481T>A) c.441T>A (p.Gly147=) | |
| 7 | g.107915559T>C | CA457108758 | DLD | c.738T>C (p.Gly246=) c.*412T>C (n.*412T>C) c.594T>C (p.Gly198=) c.669T>C (p.Gly223=) c.*481T>C (n.*481T>C) c.441T>C (p.Gly147=) | |
| 7 | g.107915559T>G | CA457108759 | DLD | c.738T>G (p.Gly246=) c.*412T>G (n.*412T>G) c.594T>G (p.Gly198=) c.669T>G (p.Gly223=) c.*481T>G (n.*481T>G) c.441T>G (p.Gly147=) | gnomAD v4 |
| 7 | g.107915560C>A | CA368856930 | DLD | c.739C>A (p.His247Asn) c.*413C>A (n.*413C>A) c.595C>A (p.His199Asn) c.670C>A (p.His224Asn) c.*482C>A (n.*482C>A) c.442C>A (p.His148Asn) | gnomAD v4 |
| 7 | g.107915560C>G | CA368856931 | DLD | c.739C>G (p.His247Asp) c.*413C>G (n.*413C>G) c.595C>G (p.His199Asp) c.670C>G (p.His224Asp) c.*482C>G (n.*482C>G) c.442C>G (p.His148Asp) | |
| 7 | g.107915560C>T | CA368856933 | DLD | c.739C>T (p.His247Tyr) c.*413C>T (n.*413C>T) c.595C>T (p.His199Tyr) c.670C>T (p.His224Tyr) c.*482C>T (n.*482C>T) c.442C>T (p.His148Tyr) | |
| 7 | g.107915561A= | CA1732859323 | DLD | c.740A= (p.His247=) c.*414A= (n.*414A=) c.596A= (p.His199=) c.671A= (p.His224=) c.*483A= (n.*483A=) c.443A= (p.His148=) | |
| 7 | g.107915561A>C | CA368856935 | DLD | c.740A>C (p.His247Pro) c.*414A>C (n.*414A>C) c.596A>C (p.His199Pro) c.671A>C (p.His224Pro) c.*483A>C (n.*483A>C) c.443A>C (p.His148Pro) | |
| 7 | g.107915561A>G | CA368856939 | DLD | c.740A>G (p.His247Arg) c.*414A>G (n.*414A>G) c.596A>G (p.His199Arg) c.671A>G (p.His224Arg) c.*483A>G (n.*483A>G) c.443A>G (p.His148Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915561A>T | CA368856937 | DLD | c.740A>T (p.His247Leu) c.*414A>T (n.*414A>T) c.596A>T (p.His199Leu) c.671A>T (p.His224Leu) c.*483A>T (n.*483A>T) c.443A>T (p.His148Leu) | |
| 7 | g.107915562T>A | CA368856941 | DLD | c.741T>A (p.His247Gln) c.*415T>A (n.*415T>A) c.597T>A (p.His199Gln) c.672T>A (p.His224Gln) c.*484T>A (n.*484T>A) c.444T>A (p.His148Gln) | |
| 7 | g.107915562T>C | CA4434553 | DLD | c.741T>C (p.His247=) c.*415T>C (n.*415T>C) c.597T>C (p.His199=) c.672T>C (p.His224=) c.*484T>C (n.*484T>C) c.444T>C (p.His148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915562T>G | CA368856943 | DLD | c.741T>G (p.His247Gln) c.*415T>G (n.*415T>G) c.597T>G (p.His199Gln) c.672T>G (p.His224Gln) c.*484T>G (n.*484T>G) c.444T>G (p.His148Gln) | |
| 7 | g.107915562T= | CA1732859324 | DLD | c.741T= (p.His247=) c.*415T= (n.*415T=) c.597T= (p.His199=) c.672T= (p.His224=) c.*484T= (n.*484T=) c.444T= (p.His148=) | |
| 7 | g.107915563G>A | CA4434554 | DLD | c.742G>A (p.Val248Ile) c.*416G>A (n.*416G>A) c.598G>A (p.Val200Ile) c.673G>A (p.Val225Ile) c.*485G>A (n.*485G>A) c.445G>A (p.Val149Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915563G>C | CA368856946 | DLD | c.742G>C (p.Val248Leu) c.*416G>C (n.*416G>C) c.598G>C (p.Val200Leu) c.673G>C (p.Val225Leu) c.*485G>C (n.*485G>C) c.445G>C (p.Val149Leu) | |
| 7 | g.107915563G= | CA1732859325 | DLD | c.742G= (p.Val248=) c.*416G= (n.*416G=) c.598G= (p.Val200=) c.673G= (p.Val225=) c.*485G= (n.*485G=) c.445G= (p.Val149=) | |
| 7 | g.107915563G>T | CA368856948 | DLD | c.742G>T (p.Val248Leu) c.*416G>T (n.*416G>T) c.598G>T (p.Val200Leu) c.673G>T (p.Val225Leu) c.*485G>T (n.*485G>T) c.445G>T (p.Val149Leu) | gnomAD v4 |
| 7 | g.107915564T>A | CA368856950 | DLD | c.743T>A (p.Val248Glu) c.*417T>A (n.*417T>A) c.599T>A (p.Val200Glu) c.674T>A (p.Val225Glu) c.*486T>A (n.*486T>A) c.446T>A (p.Val149Glu) | |
| 7 | g.107915564T>C | CA368856952 | DLD | c.743T>C (p.Val248Ala) c.*417T>C (n.*417T>C) c.599T>C (p.Val200Ala) c.674T>C (p.Val225Ala) c.*486T>C (n.*486T>C) c.446T>C (p.Val149Ala) | |
| 7 | g.107915564T>G | CA368856953 | DLD | c.743T>G (p.Val248Gly) c.*417T>G (n.*417T>G) c.599T>G (p.Val200Gly) c.674T>G (p.Val225Gly) c.*486T>G (n.*486T>G) c.446T>G (p.Val149Gly) | |
| 7 | g.107915565A= | CA1732859326 | DLD | c.744A= (p.Val248=) c.*418A= (n.*418A=) c.600A= (p.Val200=) c.675A= (p.Val225=) c.*487A= (n.*487A=) c.447A= (p.Val149=) | |
| 7 | g.107915565A>C | CA457108763 | DLD | c.744A>C (p.Val248=) c.*418A>C (n.*418A>C) c.600A>C (p.Val200=) c.675A>C (p.Val225=) c.*487A>C (n.*487A>C) c.447A>C (p.Val149=) | |
| 7 | g.107915565A>G | CA457108764 | DLD | c.744A>G (p.Val248=) c.*418A>G (n.*418A>G) c.600A>G (p.Val200=) c.675A>G (p.Val225=) c.*487A>G (n.*487A>G) c.447A>G (p.Val149=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915565A>T | CA457108765 | DLD | c.744A>T (p.Val248=) c.*418A>T (n.*418A>T) c.600A>T (p.Val200=) c.675A>T (p.Val225=) c.*487A>T (n.*487A>T) c.447A>T (p.Val149=) | |
| 7 | g.107915566G>A | CA368856956 | DLD | c.745G>A (p.Gly249Ser) c.*419G>A (n.*419G>A) c.601G>A (p.Gly201Ser) c.676G>A (p.Gly226Ser) c.*488G>A (n.*488G>A) c.448G>A (p.Gly150Ser) | gnomAD v4 |
| 7 | g.107915566G>C | CA368856957 | DLD | c.745G>C (p.Gly249Arg) c.*419G>C (n.*419G>C) c.601G>C (p.Gly201Arg) c.676G>C (p.Gly226Arg) c.*488G>C (n.*488G>C) c.448G>C (p.Gly150Arg) | |
| 7 | g.107915566G>T | CA368856959 | DLD | c.745G>T (p.Gly249Cys) c.*419G>T (n.*419G>T) c.601G>T (p.Gly201Cys) c.676G>T (p.Gly226Cys) c.*488G>T (n.*488G>T) c.448G>T (p.Gly150Cys) | |
| 7 | g.107915567G>A | CA368856961 | DLD | c.746G>A (p.Gly249Asp) c.*420G>A (n.*420G>A) c.602G>A (p.Gly201Asp) c.677G>A (p.Gly226Asp) c.*489G>A (n.*489G>A) c.449G>A (p.Gly150Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.107915567G>C | CA368856964 | DLD | c.746G>C (p.Gly249Ala) c.*420G>C (n.*420G>C) c.602G>C (p.Gly201Ala) c.677G>C (p.Gly226Ala) c.*489G>C (n.*489G>C) c.449G>C (p.Gly150Ala) | |
| 7 | g.107915567G= | CA1732859327 | DLD | c.746G= (p.Gly249=) c.*420G= (n.*420G=) c.602G= (p.Gly201=) c.677G= (p.Gly226=) c.*489G= (n.*489G=) c.449G= (p.Gly150=) | |
| 7 | g.107915567G>T | CA368856963 | DLD | c.746G>T (p.Gly249Val) c.*420G>T (n.*420G>T) c.602G>T (p.Gly201Val) c.677G>T (p.Gly226Val) c.*489G>T (n.*489G>T) c.449G>T (p.Gly150Val) | |
| 7 | g.107915568T>A | CA457108769 | DLD | c.747T>A (p.Gly249=) c.*421T>A (n.*421T>A) c.603T>A (p.Gly201=) c.678T>A (p.Gly226=) c.*490T>A (n.*490T>A) c.450T>A (p.Gly150=) | |
| 7 | g.107915568T>C | CA457108770 | DLD | c.747T>C (p.Gly249=) c.*421T>C (n.*421T>C) c.603T>C (p.Gly201=) c.678T>C (p.Gly226=) c.*490T>C (n.*490T>C) c.450T>C (p.Gly150=) | |
| 7 | g.107915568T>G | CA457108771 | DLD | c.747T>G (p.Gly249=) c.*421T>G (n.*421T>G) c.603T>G (p.Gly201=) c.678T>G (p.Gly226=) c.*490T>G (n.*490T>G) c.450T>G (p.Gly150=) | |
| 7 | g.107915569G>A | CA368856966 | DLD | c.748G>A (p.Gly250Arg) c.*422G>A (n.*422G>A) c.604G>A (p.Gly202Arg) c.679G>A (p.Gly227Arg) c.*491G>A (n.*491G>A) c.451G>A (p.Gly151Arg) | |
| 7 | g.107915569G>C | CA368856968 | DLD | c.748G>C (p.Gly250Arg) c.*422G>C (n.*422G>C) c.604G>C (p.Gly202Arg) c.679G>C (p.Gly227Arg) c.*491G>C (n.*491G>C) c.451G>C (p.Gly151Arg) | |
| 7 | g.107915569G= | CA1732859328 | DLD | c.748G= (p.Gly250=) c.*422G= (n.*422G=) c.604G= (p.Gly202=) c.679G= (p.Gly227=) c.*491G= (n.*491G=) c.451G= (p.Gly151=) | |
| 7 | g.107915569G>T | CA368856970 | DLD | c.748G>T (p.Gly250Ter) c.*422G>T (n.*422G>T) c.604G>T (p.Gly202Ter) c.679G>T (p.Gly227Ter) c.*491G>T (n.*491G>T) c.451G>T (p.Gly151Ter) | ClinVar dbSNP |
| 7 | g.107915570G>A | CA368856972 | DLD | c.749G>A (p.Gly250Glu) c.*423G>A (n.*423G>A) c.605G>A (p.Gly202Glu) c.680G>A (p.Gly227Glu) c.*492G>A (n.*492G>A) c.452G>A (p.Gly151Glu) | |
| 7 | g.107915570G>C | CA368856974 | DLD | c.749G>C (p.Gly250Ala) c.*423G>C (n.*423G>C) c.605G>C (p.Gly202Ala) c.680G>C (p.Gly227Ala) c.*492G>C (n.*492G>C) c.452G>C (p.Gly151Ala) | |
| 7 | g.107915570G>T | CA368856976 | DLD | c.749G>T (p.Gly250Val) c.*423G>T (n.*423G>T) c.605G>T (p.Gly202Val) c.680G>T (p.Gly227Val) c.*492G>T (n.*492G>T) c.452G>T (p.Gly151Val) | |
| 7 | g.107915571A>C | CA457108774 | DLD | c.750A>C (p.Gly250=) c.*424A>C (n.*424A>C) c.606A>C (p.Gly202=) c.681A>C (p.Gly227=) c.*493A>C (n.*493A>C) c.453A>C (p.Gly151=) | |
| 7 | g.107915571A>G | CA457108775 | DLD | c.750A>G (p.Gly250=) c.*424A>G (n.*424A>G) c.606A>G (p.Gly202=) c.681A>G (p.Gly227=) c.*493A>G (n.*493A>G) c.453A>G (p.Gly151=) | |
| 7 | g.107915571A>T | CA457108777 | DLD | c.750A>T (p.Gly250=) c.*424A>T (n.*424A>T) c.606A>T (p.Gly202=) c.681A>T (p.Gly227=) c.*493A>T (n.*493A>T) c.453A>T (p.Gly151=) | |
| 7 | g.107915572G>A | CA368856978 | DLD | c.751G>A (p.Val251Ile) c.*425G>A (n.*425G>A) c.607G>A (p.Val203Ile) c.682G>A (p.Val228Ile) c.*494G>A (n.*494G>A) c.454G>A (p.Val152Ile) | |
| 7 | g.107915572G>C | CA368856980 | DLD | c.751G>C (p.Val251Leu) c.*425G>C (n.*425G>C) c.607G>C (p.Val203Leu) c.682G>C (p.Val228Leu) c.*494G>C (n.*494G>C) c.454G>C (p.Val152Leu) | |
| 7 | g.107915572G>T | CA368856982 | DLD | c.751G>T (p.Val251Phe) c.*425G>T (n.*425G>T) c.607G>T (p.Val203Phe) c.682G>T (p.Val228Phe) c.*494G>T (n.*494G>T) c.454G>T (p.Val152Phe) | |
| 7 | g.107915573T>A | CA368856983 | DLD | c.752T>A (p.Val251Asp) c.*426T>A (n.*426T>A) c.608T>A (p.Val203Asp) c.683T>A (p.Val228Asp) c.*495T>A (n.*495T>A) c.455T>A (p.Val152Asp) | |
| 7 | g.107915573T>C | CA368856985 | DLD | c.752T>C (p.Val251Ala) c.*426T>C (n.*426T>C) c.608T>C (p.Val203Ala) c.683T>C (p.Val228Ala) c.*495T>C (n.*495T>C) c.455T>C (p.Val152Ala) | |
| 7 | g.107915573T>G | CA4434555 | DLD | c.752T>G (p.Val251Gly) c.*426T>G (n.*426T>G) c.608T>G (p.Val203Gly) c.683T>G (p.Val228Gly) c.*495T>G (n.*495T>G) c.455T>G (p.Val152Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915573T= | CA1732859329 | DLD | c.752T= (p.Val251=) c.*426T= (n.*426T=) c.608T= (p.Val203=) c.683T= (p.Val228=) c.*495T= (n.*495T=) c.455T= (p.Val152=) | |
| 7 | g.107915574T>A | CA457108778 | DLD | c.753T>A (p.Val251=) c.*427T>A (n.*427T>A) c.609T>A (p.Val203=) c.684T>A (p.Val228=) c.*496T>A (n.*496T>A) c.456T>A (p.Val152=) | |
| 7 | g.107915574T>C | CA457108779 | DLD | c.753T>C (p.Val251=) c.*427T>C (n.*427T>C) c.609T>C (p.Val203=) c.684T>C (p.Val228=) c.*496T>C (n.*496T>C) c.456T>C (p.Val152=) | |
| 7 | g.107915574T>G | CA457108780 | DLD | c.753T>G (p.Val251=) c.*427T>G (n.*427T>G) c.609T>G (p.Val203=) c.684T>G (p.Val228=) c.*496T>G (n.*496T>G) c.456T>G (p.Val152=) | |
| 7 | g.107915575G>A | CA368856990 | DLD | c.754G>A (p.Gly252Arg) c.*428G>A (n.*428G>A) c.610G>A (p.Gly204Arg) c.685G>A (p.Gly229Arg) c.*497G>A (n.*497G>A) c.457G>A (p.Gly153Arg) | |
| 7 | g.107915575G>C | CA368856989 | DLD | c.754G>C (p.Gly252Arg) c.*428G>C (n.*428G>C) c.610G>C (p.Gly204Arg) c.685G>C (p.Gly229Arg) c.*497G>C (n.*497G>C) c.457G>C (p.Gly153Arg) | |
| 7 | g.107915575G>T | CA368856988 | DLD | c.754G>T (p.Gly252Ter) c.*428G>T (n.*428G>T) c.610G>T (p.Gly204Ter) c.685G>T (p.Gly229Ter) c.*497G>T (n.*497G>T) c.457G>T (p.Gly153Ter) | |
| 7 | g.107915575_107915576delinsAA | CA645541917 | DLD | c.754_755delinsAA (p.Gly252Lys) c.*428_*429delinsAA (n.*428_*429delinsAA) c.610_611delinsAA (p.Gly204Lys) c.685_686delinsAA (p.Gly229Lys) c.*497_*498delinsAA (n.*497_*498delinsAA) c.457_458delinsAA (p.Gly153Lys) | COSMIC COSMIC |
| 7 | g.107915576G>A | CA368856992 | DLD | c.755G>A (p.Gly252Glu) c.*429G>A (n.*429G>A) c.611G>A (p.Gly204Glu) c.686G>A (p.Gly229Glu) c.*498G>A (n.*498G>A) c.458G>A (p.Gly153Glu) | dbSNP |
| 7 | g.107915576G>C | CA368856994 | DLD | c.755G>C (p.Gly252Ala) c.*429G>C (n.*429G>C) c.611G>C (p.Gly204Ala) c.686G>C (p.Gly229Ala) c.*498G>C (n.*498G>C) c.458G>C (p.Gly153Ala) | |
| 7 | g.107915576G= | CA1732859330 | DLD | c.755G= (p.Gly252=) c.*429G= (n.*429G=) c.611G= (p.Gly204=) c.686G= (p.Gly229=) c.*498G= (n.*498G=) c.458G= (p.Gly153=) | |
| 7 | g.107915576G>T | CA368856996 | DLD | c.755G>T (p.Gly252Val) c.*429G>T (n.*429G>T) c.611G>T (p.Gly204Val) c.686G>T (p.Gly229Val) c.*498G>T (n.*498G>T) c.458G>T (p.Gly153Val) | |
| 7 | g.107915577A>C | CA457108783 | DLD | c.756A>C (p.Gly252=) c.*430A>C (n.*430A>C) c.612A>C (p.Gly204=) c.687A>C (p.Gly229=) c.*499A>C (n.*499A>C) c.459A>C (p.Gly153=) | |
| 7 | g.107915577A>G | CA457108784 | DLD | c.756A>G (p.Gly252=) c.*430A>G (n.*430A>G) c.612A>G (p.Gly204=) c.687A>G (p.Gly229=) c.*499A>G (n.*499A>G) c.459A>G (p.Gly153=) | |
| 7 | g.107915577A>T | CA457108782 | DLD | c.756A>T (p.Gly252=) c.*430A>T (n.*430A>T) c.612A>T (p.Gly204=) c.687A>T (p.Gly229=) c.*499A>T (n.*499A>T) c.459A>T (p.Gly153=) | |
| 7 | g.107915578A>C | CA368856998 | DLD | c.757A>C (p.Ile253Leu) c.*431A>C (n.*431A>C) c.613A>C (p.Ile205Leu) c.688A>C (p.Ile230Leu) c.*500A>C (n.*500A>C) c.460A>C (p.Ile154Leu) | |
| 7 | g.107915578A>G | CA368856999 | DLD | c.757A>G (p.Ile253Val) c.*431A>G (n.*431A>G) c.613A>G (p.Ile205Val) c.688A>G (p.Ile230Val) c.*500A>G (n.*500A>G) c.460A>G (p.Ile154Val) | |
| 7 | g.107915578A>T | CA368857001 | DLD | c.757A>T (p.Ile253Phe) c.*431A>T (n.*431A>T) c.613A>T (p.Ile205Phe) c.688A>T (p.Ile230Phe) c.*500A>T (n.*500A>T) c.460A>T (p.Ile154Phe) | |
| 7 | g.107915579T>A | CA368857004 | DLD | c.758T>A (p.Ile253Asn) c.*432T>A (n.*432T>A) c.614T>A (p.Ile205Asn) c.689T>A (p.Ile230Asn) c.*501T>A (n.*501T>A) c.461T>A (p.Ile154Asn) | |
| 7 | g.107915579T>C | CA368857005 | DLD | c.758T>C (p.Ile253Thr) c.*432T>C (n.*432T>C) c.614T>C (p.Ile205Thr) c.689T>C (p.Ile230Thr) c.*501T>C (n.*501T>C) c.461T>C (p.Ile154Thr) | |
| 7 | g.107915579T>G | CA368857007 | DLD | c.758T>G (p.Ile253Ser) c.*432T>G (n.*432T>G) c.614T>G (p.Ile205Ser) c.689T>G (p.Ile230Ser) c.*501T>G (n.*501T>G) c.461T>G (p.Ile154Ser) | |
| 7 | g.107915580T>A | CA457108786 | DLD | c.759T>A (p.Ile253=) c.*433T>A (n.*433T>A) c.615T>A (p.Ile205=) c.690T>A (p.Ile230=) c.*502T>A (n.*502T>A) c.462T>A (p.Ile154=) | |
| 7 | g.107915580T>C | CA457108785 | DLD | c.759T>C (p.Ile253=) c.*433T>C (n.*433T>C) c.615T>C (p.Ile205=) c.690T>C (p.Ile230=) c.*502T>C (n.*502T>C) c.462T>C (p.Ile154=) | |
| 7 | g.107915580T>G | CA368857009 | DLD | c.759T>G (p.Ile253Met) c.*433T>G (n.*433T>G) c.615T>G (p.Ile205Met) c.690T>G (p.Ile230Met) c.*502T>G (n.*502T>G) c.462T>G (p.Ile154Met) | |
| 7 | g.107915581G>A | CA368857011 | DLD | c.760G>A (p.Asp254Asn) c.*434G>A (n.*434G>A) c.616G>A (p.Asp206Asn) c.691G>A (p.Asp231Asn) c.*503G>A (n.*503G>A) c.463G>A (p.Asp155Asn) | COSMIC COSMIC |
| 7 | g.107915581G>C | CA368857013 | DLD | c.760G>C (p.Asp254His) c.*434G>C (n.*434G>C) c.616G>C (p.Asp206His) c.691G>C (p.Asp231His) c.*503G>C (n.*503G>C) c.463G>C (p.Asp155His) | |
| 7 | g.107915581G>T | CA368857015 | DLD | c.760G>T (p.Asp254Tyr) c.*434G>T (n.*434G>T) c.616G>T (p.Asp206Tyr) c.691G>T (p.Asp231Tyr) c.*503G>T (n.*503G>T) c.463G>T (p.Asp155Tyr) | |
| 7 | g.107915582A>C | CA368857018 | DLD | c.761A>C (p.Asp254Ala) c.*435A>C (n.*435A>C) c.617A>C (p.Asp206Ala) c.692A>C (p.Asp231Ala) c.*504A>C (n.*504A>C) c.464A>C (p.Asp155Ala) | |
| 7 | g.107915582A>G | CA368857019 | DLD | c.761A>G (p.Asp254Gly) c.*435A>G (n.*435A>G) c.617A>G (p.Asp206Gly) c.692A>G (p.Asp231Gly) c.*504A>G (n.*504A>G) c.464A>G (p.Asp155Gly) | |
| 7 | g.107915582A>T | CA368857017 | DLD | c.761A>T (p.Asp254Val) c.*435A>T (n.*435A>T) c.617A>T (p.Asp206Val) c.692A>T (p.Asp231Val) c.*504A>T (n.*504A>T) c.464A>T (p.Asp155Val) | gnomAD v4 |
| 7 | g.107915584_107915585del | CA2684464842 | DLD | c.763_764del (p.Met255GlyfsTer4) c.*437_*438del (n.*437_*438del) c.619_620del (p.Met207GlyfsTer4) c.694_695del (p.Met232GlyfsTer4) c.*506_*507del (n.*506_*507del) c.466_467del (p.Met156GlyfsTer4) | gnomAD v4 |
| 7 | g.107915583T>A | CA368857023 | DLD | c.762T>A (p.Asp254Glu) c.*436T>A (n.*436T>A) c.618T>A (p.Asp206Glu) c.693T>A (p.Asp231Glu) c.*505T>A (n.*505T>A) c.465T>A (p.Asp155Glu) | |
| 7 | g.107915583T>C | CA457108790 | DLD | c.762T>C (p.Asp254=) c.*436T>C (n.*436T>C) c.618T>C (p.Asp206=) c.693T>C (p.Asp231=) c.*505T>C (n.*505T>C) c.465T>C (p.Asp155=) | |
| 7 | g.107915583T>G | CA368857021 | DLD | c.762T>G (p.Asp254Glu) c.*436T>G (n.*436T>G) c.618T>G (p.Asp206Glu) c.693T>G (p.Asp231Glu) c.*505T>G (n.*505T>G) c.465T>G (p.Asp155Glu) | |
| 7 | g.107915584A= | CA1732859331 | DLD | c.763A= (p.Met255=) c.*437A= (n.*437A=) c.619A= (p.Met207=) c.694A= (p.Met232=) c.*506A= (n.*506A=) c.466A= (p.Met156=) | |
| 7 | g.107915584A>C | CA312464 | DLD | c.763A>C (p.Met255Leu) c.*437A>C (n.*437A>C) c.619A>C (p.Met207Leu) c.694A>C (p.Met232Leu) c.*506A>C (n.*506A>C) c.466A>C (p.Met156Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915584A>G | CA368857025 | DLD | c.763A>G (p.Met255Val) c.*437A>G (n.*437A>G) c.619A>G (p.Met207Val) c.694A>G (p.Met232Val) c.*506A>G (n.*506A>G) c.466A>G (p.Met156Val) | |
| 7 | g.107915584A>T | CA164257674 | DLD | c.763A>T (p.Met255Leu) c.*437A>T (n.*437A>T) c.619A>T (p.Met207Leu) c.694A>T (p.Met232Leu) c.*506A>T (n.*506A>T) c.466A>T (p.Met156Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915585T>A | CA368857029 | DLD | c.764T>A (p.Met255Lys) c.*438T>A (n.*438T>A) c.620T>A (p.Met207Lys) c.695T>A (p.Met232Lys) c.*507T>A (n.*507T>A) c.467T>A (p.Met156Lys) | |
| 7 | g.107915585T>C | CA164257687 | DLD | c.764T>C (p.Met255Thr) c.*438T>C (n.*438T>C) c.620T>C (p.Met207Thr) c.695T>C (p.Met232Thr) c.*507T>C (n.*507T>C) c.467T>C (p.Met156Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915585T>G | CA368857032 | DLD | c.764T>G (p.Met255Arg) c.*438T>G (n.*438T>G) c.620T>G (p.Met207Arg) c.695T>G (p.Met232Arg) c.*507T>G (n.*507T>G) c.467T>G (p.Met156Arg) | gnomAD v4 |
| 7 | g.107915585T= | CA1732859332 | DLD | c.764T= (p.Met255=) c.*438T= (n.*438T=) c.620T= (p.Met207=) c.695T= (p.Met232=) c.*507T= (n.*507T=) c.467T= (p.Met156=) | |
| 7 | g.107915586G>A | CA368857034 | DLD | c.765G>A (p.Met255Ile) c.*439G>A (n.*439G>A) c.621G>A (p.Met207Ile) c.696G>A (p.Met232Ile) c.*508G>A (n.*508G>A) c.468G>A (p.Met156Ile) | ClinVar |
| 7 | g.107915586G>C | CA368857037 | DLD | c.765G>C (p.Met255Ile) c.*439G>C (n.*439G>C) c.621G>C (p.Met207Ile) c.696G>C (p.Met232Ile) c.*508G>C (n.*508G>C) c.468G>C (p.Met156Ile) | |
| 7 | g.107915586G>T | CA368857038 | DLD | c.765G>T (p.Met255Ile) c.*439G>T (n.*439G>T) c.621G>T (p.Met207Ile) c.696G>T (p.Met232Ile) c.*508G>T (n.*508G>T) c.468G>T (p.Met156Ile) | |
| 7 | g.107915587G>A | CA368857041 | DLD | c.766G>A (p.Glu256Lys) c.*440G>A (n.*440G>A) c.622G>A (p.Glu208Lys) c.697G>A (p.Glu233Lys) c.*509G>A (n.*509G>A) c.469G>A (p.Glu157Lys) | |
| 7 | g.107915587G>C | CA368857042 | DLD | c.766G>C (p.Glu256Gln) c.*440G>C (n.*440G>C) c.622G>C (p.Glu208Gln) c.697G>C (p.Glu233Gln) c.*509G>C (n.*509G>C) c.469G>C (p.Glu157Gln) | |
| 7 | g.107915587G>T | CA368857043 | DLD | c.766G>T (p.Glu256Ter) c.*440G>T (n.*440G>T) c.622G>T (p.Glu208Ter) c.697G>T (p.Glu233Ter) c.*509G>T (n.*509G>T) c.469G>T (p.Glu157Ter) | |
| 7 | g.107915588A= | CA1732859333 | DLD | c.767A= (p.Glu256=) c.*441A= (n.*441A=) c.623A= (p.Glu208=) c.698A= (p.Glu233=) c.*510A= (n.*510A=) c.470A= (p.Glu157=) | |
| 7 | g.107915588A>C | CA368857044 | DLD | c.767A>C (p.Glu256Ala) c.*441A>C (n.*441A>C) c.623A>C (p.Glu208Ala) c.698A>C (p.Glu233Ala) c.*510A>C (n.*510A>C) c.470A>C (p.Glu157Ala) | |
| 7 | g.107915588A>G | CA368857045 | DLD | c.767A>G (p.Glu256Gly) c.*441A>G (n.*441A>G) c.623A>G (p.Glu208Gly) c.698A>G (p.Glu233Gly) c.*510A>G (n.*510A>G) c.470A>G (p.Glu157Gly) | |
| 7 | g.107915588A>T | CA368857046 | DLD | c.767A>T (p.Glu256Val) c.*441A>T (n.*441A>T) c.623A>T (p.Glu208Val) c.698A>T (p.Glu233Val) c.*510A>T (n.*510A>T) c.470A>T (p.Glu157Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915589G>A | CA457108792 | DLD | c.768G>A (p.Glu256=) c.*442G>A (n.*442G>A) c.624G>A (p.Glu208=) c.699G>A (p.Glu233=) c.*511G>A (n.*511G>A) c.471G>A (p.Glu157=) | |
| 7 | g.107915589G>C | CA368857048 | DLD | c.768G>C (p.Glu256Asp) c.*442G>C (n.*442G>C) c.624G>C (p.Glu208Asp) c.699G>C (p.Glu233Asp) c.*511G>C (n.*511G>C) c.471G>C (p.Glu157Asp) | |
| 7 | g.107915589G= | CA1732859334 | DLD | c.768G= (p.Glu256=) c.*442G= (n.*442G=) c.624G= (p.Glu208=) c.699G= (p.Glu233=) c.*511G= (n.*511G=) c.471G= (p.Glu157=) | |
| 7 | g.107915589G>T | CA4434556 | DLD | c.768G>T (p.Glu256Asp) c.*442G>T (n.*442G>T) c.624G>T (p.Glu208Asp) c.699G>T (p.Glu233Asp) c.*511G>T (n.*511G>T) c.471G>T (p.Glu157Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915590A= | CA1732859335 | DLD | c.769A= (p.Ile257=) c.*443A= (n.*443A=) c.625A= (p.Ile209=) c.700A= (p.Ile234=) c.*512A= (n.*512A=) c.472A= (p.Ile158=) | |
| 7 | g.107915590A>C | CA368857051 | DLD | c.769A>C (p.Ile257Leu) c.*443A>C (n.*443A>C) c.625A>C (p.Ile209Leu) c.700A>C (p.Ile234Leu) c.*512A>C (n.*512A>C) c.472A>C (p.Ile158Leu) | |
| 7 | g.107915590A>G | CA368857050 | DLD | c.769A>G (p.Ile257Val) c.*443A>G (n.*443A>G) c.625A>G (p.Ile209Val) c.700A>G (p.Ile234Val) c.*512A>G (n.*512A>G) c.472A>G (p.Ile158Val) | |
| 7 | g.107915590A>T | CA368857049 | DLD | c.769A>T (p.Ile257Leu) c.*443A>T (n.*443A>T) c.625A>T (p.Ile209Leu) c.700A>T (p.Ile234Leu) c.*512A>T (n.*512A>T) c.472A>T (p.Ile158Leu) | dbSNP |
| 7 | g.107915591T>A | CA368857053 | DLD | c.770T>A (p.Ile257Lys) c.*444T>A (n.*444T>A) c.626T>A (p.Ile209Lys) c.701T>A (p.Ile234Lys) c.*513T>A (n.*513T>A) c.473T>A (p.Ile158Lys) | |
| 7 | g.107915591T>C | CA368857054 | DLD | c.770T>C (p.Ile257Thr) c.*444T>C (n.*444T>C) c.626T>C (p.Ile209Thr) c.701T>C (p.Ile234Thr) c.*513T>C (n.*513T>C) c.473T>C (p.Ile158Thr) | gnomAD v4 |
| 7 | g.107915591T>G | CA368857056 | DLD | c.770T>G (p.Ile257Arg) c.*444T>G (n.*444T>G) c.626T>G (p.Ile209Arg) c.701T>G (p.Ile234Arg) c.*513T>G (n.*513T>G) c.473T>G (p.Ile158Arg) | ClinVar |
| 7 | g.107915592A>C | CA457108795 | DLD | c.771A>C (p.Ile257=) c.*445A>C (n.*445A>C) c.627A>C (p.Ile209=) c.702A>C (p.Ile234=) c.*514A>C (n.*514A>C) c.474A>C (p.Ile158=) | |
| 7 | g.107915592A>G | CA368857058 | DLD | c.771A>G (p.Ile257Met) c.*445A>G (n.*445A>G) c.627A>G (p.Ile209Met) c.702A>G (p.Ile234Met) c.*514A>G (n.*514A>G) c.474A>G (p.Ile158Met) | |
| 7 | g.107915592A>T | CA457108796 | DLD | c.771A>T (p.Ile257=) c.*445A>T (n.*445A>T) c.627A>T (p.Ile209=) c.702A>T (p.Ile234=) c.*514A>T (n.*514A>T) c.474A>T (p.Ile158=) | |
| 7 | g.107915593T>A | CA4434557 | DLD | c.772T>A (p.Ser258Thr) c.*446T>A (n.*446T>A) c.628T>A (p.Ser210Thr) c.703T>A (p.Ser235Thr) c.*515T>A (n.*515T>A) c.475T>A (p.Ser159Thr) | dbSNP ExAC gnomAD v2 |
| 7 | g.107915593T>C | CA368857060 | DLD | c.772T>C (p.Ser258Pro) c.*446T>C (n.*446T>C) c.628T>C (p.Ser210Pro) c.703T>C (p.Ser235Pro) c.*515T>C (n.*515T>C) c.475T>C (p.Ser159Pro) | gnomAD v4 |
| 7 | g.107915593T>G | CA368857062 | DLD | c.772T>G (p.Ser258Ala) c.*446T>G (n.*446T>G) c.628T>G (p.Ser210Ala) c.703T>G (p.Ser235Ala) c.*515T>G (n.*515T>G) c.475T>G (p.Ser159Ala) | |
| 7 | g.107915593T= | CA1732859336 | DLD | c.772T= (p.Ser258=) c.*446T= (n.*446T=) c.628T= (p.Ser210=) c.703T= (p.Ser235=) c.*515T= (n.*515T=) c.475T= (p.Ser159=) | |
| 7 | g.107915594C>A | CA368857063 | DLD | c.773C>A (p.Ser258Tyr) c.*447C>A (n.*447C>A) c.629C>A (p.Ser210Tyr) c.704C>A (p.Ser235Tyr) c.*516C>A (n.*516C>A) c.476C>A (p.Ser159Tyr) | |
| 7 | g.107915594C= | CA1732859337 | DLD | c.773C= (p.Ser258=) c.*447C= (n.*447C=) c.629C= (p.Ser210=) c.704C= (p.Ser235=) c.*516C= (n.*516C=) c.476C= (p.Ser159=) | |
| 7 | g.107915594C>G | CA164257698 | DLD | c.773C>G (p.Ser258Cys) c.*447C>G (n.*447C>G) c.629C>G (p.Ser210Cys) c.704C>G (p.Ser235Cys) c.*516C>G (n.*516C>G) c.476C>G (p.Ser159Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915594C>T | CA368857064 | DLD | c.773C>T (p.Ser258Phe) c.*447C>T (n.*447C>T) c.629C>T (p.Ser210Phe) c.704C>T (p.Ser235Phe) c.*516C>T (n.*516C>T) c.476C>T (p.Ser159Phe) | |
| 7 | g.107915595T>A | CA457108800 | DLD | c.774T>A (p.Ser258=) c.*448T>A (n.*448T>A) c.630T>A (p.Ser210=) c.705T>A (p.Ser235=) c.*517T>A (n.*517T>A) c.477T>A (p.Ser159=) | |
| 7 | g.107915595T>C | CA4434558 | DLD | c.774T>C (p.Ser258=) c.*448T>C (n.*448T>C) c.630T>C (p.Ser210=) c.705T>C (p.Ser235=) c.*517T>C (n.*517T>C) c.477T>C (p.Ser159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915595T>G | CA457108801 | DLD | c.774T>G (p.Ser258=) c.*448T>G (n.*448T>G) c.630T>G (p.Ser210=) c.705T>G (p.Ser235=) c.*517T>G (n.*517T>G) c.477T>G (p.Ser159=) | gnomAD v4 |
| 7 | g.107915595T= | CA1732859338 | DLD | c.774T= (p.Ser258=) c.*448T= (n.*448T=) c.630T= (p.Ser210=) c.705T= (p.Ser235=) c.*517T= (n.*517T=) c.477T= (p.Ser159=) | |
| 7 | g.107915596A>C | CA368857066 | DLD | c.775A>C (p.Lys259Gln) c.*449A>C (n.*449A>C) c.631A>C (p.Lys211Gln) c.706A>C (p.Lys236Gln) c.478A>C (p.Lys160Gln) | |
| 7 | g.107915596A>G | CA368857068 | DLD | c.775A>G (p.Lys259Glu) c.*449A>G (n.*449A>G) c.631A>G (p.Lys211Glu) c.706A>G (p.Lys236Glu) c.478A>G (p.Lys160Glu) | |
| 7 | g.107915596A>T | CA368857070 | DLD | c.775A>T (p.Lys259Ter) c.*449A>T (n.*449A>T) c.631A>T (p.Lys211Ter) c.706A>T (p.Lys236Ter) c.478A>T (p.Lys160Ter) | |
| 7 | g.107915597A>C | CA368857074 | DLD | c.776A>C (p.Lys259Thr) c.*450A>C (n.*450A>C) c.632A>C (p.Lys211Thr) c.707A>C (p.Lys236Thr) c.479A>C (p.Lys160Thr) | |
| 7 | g.107915597A>G | CA368857076 | DLD | c.776A>G (p.Lys259Arg) c.*450A>G (n.*450A>G) c.632A>G (p.Lys211Arg) c.707A>G (p.Lys236Arg) c.479A>G (p.Lys160Arg) | |
| 7 | g.107915597A>T | CA368857072 | DLD | c.776A>T (p.Lys259Ile) c.*450A>T (n.*450A>T) c.632A>T (p.Lys211Ile) c.707A>T (p.Lys236Ile) c.479A>T (p.Lys160Ile) | |
| 7 | g.107915598A= | CA1732859339 | DLD | c.777A= (p.Lys259=) c.*451A= (n.*451A=) c.633A= (p.Lys211=) c.708A= (p.Lys236=) c.480A= (p.Lys160=) | |
| 7 | g.107915598A>C | CA368857078 | DLD | c.777A>C (p.Lys259Asn) c.*451A>C (n.*451A>C) c.633A>C (p.Lys211Asn) c.708A>C (p.Lys236Asn) c.480A>C (p.Lys160Asn) | |
| 7 | g.107915598A>G | CA290608 | DLD | c.777A>G (p.Lys259=) c.*451A>G (n.*451A>G) c.633A>G (p.Lys211=) c.708A>G (p.Lys236=) c.480A>G (p.Lys160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915598A>T | CA368857080 | DLD | c.777A>T (p.Lys259Asn) c.*451A>T (n.*451A>T) c.633A>T (p.Lys211Asn) c.708A>T (p.Lys236Asn) c.480A>T (p.Lys160Asn) | |
| 7 | g.107915599A>C | CA368857083 | DLD | c.778A>C (p.Asn260His) c.*452A>C (n.*452A>C) c.634A>C (p.Asn212His) c.709A>C (p.Asn237His) c.481A>C (p.Asn161His) | |
| 7 | g.107915599A>G | CA368857084 | DLD | c.778A>G (p.Asn260Asp) c.*452A>G (n.*452A>G) c.634A>G (p.Asn212Asp) c.709A>G (p.Asn237Asp) c.481A>G (p.Asn161Asp) | |
| 7 | g.107915599A>T | CA368857085 | DLD | c.778A>T (p.Asn260Tyr) c.*452A>T (n.*452A>T) c.634A>T (p.Asn212Tyr) c.709A>T (p.Asn237Tyr) c.481A>T (p.Asn161Tyr) | |
| 7 | g.107915600A= | CA1732859340 | DLD | c.779A= (p.Asn260=) c.*453A= (n.*453A=) c.635A= (p.Asn212=) c.710A= (p.Asn237=) c.482A= (p.Asn161=) | |
| 7 | g.107915600A>C | CA368857091 | DLD | c.779A>C (p.Asn260Thr) c.*453A>C (n.*453A>C) c.635A>C (p.Asn212Thr) c.710A>C (p.Asn237Thr) c.482A>C (p.Asn161Thr) | dbSNP gnomAD v4 |
| 7 | g.107915600A>G | CA368857088 | DLD | c.779A>G (p.Asn260Ser) c.*453A>G (n.*453A>G) c.635A>G (p.Asn212Ser) c.710A>G (p.Asn237Ser) c.482A>G (p.Asn161Ser) | |
| 7 | g.107915600A>T | CA368857089 | DLD | c.779A>T (p.Asn260Ile) c.*453A>T (n.*453A>T) c.635A>T (p.Asn212Ile) c.710A>T (p.Asn237Ile) c.482A>T (p.Asn161Ile) | |
| 7 | g.107915601C>A | CA368857093 | DLD | c.780C>A (p.Asn260Lys) c.*454C>A (n.*454C>A) c.636C>A (p.Asn212Lys) c.711C>A (p.Asn237Lys) c.483C>A (p.Asn161Lys) | |
| 7 | g.107915601C= | CA1732859341 | DLD | c.780C= (p.Asn260=) c.*454C= (n.*454C=) c.636C= (p.Asn212=) c.711C= (p.Asn237=) c.483C= (p.Asn161=) | |
| 7 | g.107915601C>G | CA368857095 | DLD | c.780C>G (p.Asn260Lys) c.*454C>G (n.*454C>G) c.636C>G (p.Asn212Lys) c.711C>G (p.Asn237Lys) c.483C>G (p.Asn161Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915601C>T | CA457108805 | DLD | c.780C>T (p.Asn260=) c.*454C>T (n.*454C>T) c.636C>T (p.Asn212=) c.711C>T (p.Asn237=) c.483C>T (p.Asn161=) | |
| 7 | g.107915601_107915602delinsCT | CA1732859342 | DLD | c.780_781delinsCT (p.Asn260=) c.*454_*455delinsCT (n.*454_*455delinsCT) c.636_637delinsCT (p.Asn212=) c.711_712delinsCT (p.Asn237=) c.483_484delinsCT (p.Asn161=) | |
| 7 | g.107915602T>A | CA368857097 | DLD | c.781T>A (p.Phe261Ile) c.*455T>A (n.*455T>A) c.637T>A (p.Phe213Ile) c.712T>A (p.Phe238Ile) c.484T>A (p.Phe162Ile) | |
| 7 | g.107915602T>C | CA368857099 | DLD | c.781T>C (p.Phe261Leu) c.*455T>C (n.*455T>C) c.637T>C (p.Phe213Leu) c.712T>C (p.Phe238Leu) c.484T>C (p.Phe162Leu) | gnomAD v4 |
| 7 | g.107915602T>G | CA368857101 | DLD | c.781T>G (p.Phe261Val) c.*455T>G (n.*455T>G) c.637T>G (p.Phe213Val) c.712T>G (p.Phe238Val) c.484T>G (p.Phe162Val) | dbSNP gnomAD v2 |
| 7 | g.107915602T= | CA1732859343 | DLD | c.781T= (p.Phe261=) c.*455T= (n.*455T=) c.637T= (p.Phe213=) c.712T= (p.Phe238=) c.484T= (p.Phe162=) | |
| 7 | g.107915604del | CA577199128 | DLD | c.783del (p.Gln262AsnfsTer13) c.*457del (n.*457del) c.639del (p.Gln214AsnfsTer13) c.714del (p.Gln239AsnfsTer13) c.486del (p.Gln163AsnfsTer13) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915603T>A | CA368857103 | DLD | c.782T>A (p.Phe261Tyr) c.*456T>A (n.*456T>A) c.638T>A (p.Phe213Tyr) c.713T>A (p.Phe238Tyr) c.485T>A (p.Phe162Tyr) | |
| 7 | g.107915603T>C | CA368857106 | DLD | c.782T>C (p.Phe261Ser) c.*456T>C (n.*456T>C) c.638T>C (p.Phe213Ser) c.713T>C (p.Phe238Ser) c.485T>C (p.Phe162Ser) | |
| 7 | g.107915603T>G | CA368857104 | DLD | c.782T>G (p.Phe261Cys) c.*456T>G (n.*456T>G) c.638T>G (p.Phe213Cys) c.713T>G (p.Phe238Cys) c.485T>G (p.Phe162Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915603T= | CA1732859344 | DLD | c.782T= (p.Phe261=) c.*456T= (n.*456T=) c.638T= (p.Phe213=) c.713T= (p.Phe238=) c.485T= (p.Phe162=) | |
| 7 | g.107915604T>A | CA368857109 | DLD | c.783T>A (p.Phe261Leu) c.*457T>A (n.*457T>A) c.639T>A (p.Phe213Leu) c.714T>A (p.Phe238Leu) c.486T>A (p.Phe162Leu) | |
| 7 | g.107915604T>C | CA457108809 | DLD | c.783T>C (p.Phe261=) c.*457T>C (n.*457T>C) c.639T>C (p.Phe213=) c.714T>C (p.Phe238=) c.486T>C (p.Phe162=) | gnomAD v4 |
| 7 | g.107915604T>G | CA368857110 | DLD | c.783T>G (p.Phe261Leu) c.*457T>G (n.*457T>G) c.639T>G (p.Phe213Leu) c.714T>G (p.Phe238Leu) c.486T>G (p.Phe162Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915604T= | CA1732859345 | DLD | c.783T= (p.Phe261=) c.*457T= (n.*457T=) c.639T= (p.Phe213=) c.714T= (p.Phe238=) c.486T= (p.Phe162=) | |
| 7 | g.107915605C>A | CA368857112 | DLD | c.784C>A (p.Gln262Lys) c.*458C>A (n.*458C>A) c.640C>A (p.Gln214Lys) c.715C>A (p.Gln239Lys) c.487C>A (p.Gln163Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915605C= | CA1732859346 | DLD | c.784C= (p.Gln262=) c.*458C= (n.*458C=) c.640C= (p.Gln214=) c.715C= (p.Gln239=) c.487C= (p.Gln163=) | |
| 7 | g.107915605C>G | CA368857114 | DLD | c.784C>G (p.Gln262Glu) c.*458C>G (n.*458C>G) c.640C>G (p.Gln214Glu) c.715C>G (p.Gln239Glu) c.487C>G (p.Gln163Glu) | |
| 7 | g.107915605C>T | CA368857116 | DLD | c.784C>T (p.Gln262Ter) c.*458C>T (n.*458C>T) c.640C>T (p.Gln214Ter) c.715C>T (p.Gln239Ter) c.487C>T (p.Gln163Ter) | |
| 7 | g.107915606A>C | CA368857118 | DLD | c.785A>C (p.Gln262Pro) c.*459A>C (n.*459A>C) c.641A>C (p.Gln214Pro) c.716A>C (p.Gln239Pro) c.488A>C (p.Gln163Pro) | |
| 7 | g.107915606A>G | CA368857120 | DLD | c.785A>G (p.Gln262Arg) c.*459A>G (n.*459A>G) c.641A>G (p.Gln214Arg) c.716A>G (p.Gln239Arg) c.488A>G (p.Gln163Arg) | |
| 7 | g.107915606A>T | CA368857122 | DLD | c.785A>T (p.Gln262Leu) c.*459A>T (n.*459A>T) c.641A>T (p.Gln214Leu) c.716A>T (p.Gln239Leu) c.488A>T (p.Gln163Leu) | |
| 7 | g.107915607A>C | CA368857124 | DLD | c.786A>C (p.Gln262His) c.*460A>C (n.*460A>C) c.642A>C (p.Gln214His) c.717A>C (p.Gln239His) c.489A>C (p.Gln163His) | |
| 7 | g.107915607A>G | CA457108814 | DLD | c.786A>G (p.Gln262=) c.*460A>G (n.*460A>G) c.642A>G (p.Gln214=) c.717A>G (p.Gln239=) c.489A>G (p.Gln163=) | |
| 7 | g.107915607A>T | CA368857126 | DLD | c.786A>T (p.Gln262His) c.*460A>T (n.*460A>T) c.642A>T (p.Gln214His) c.717A>T (p.Gln239His) c.489A>T (p.Gln163His) | |
| 7 | g.107915608C>A | CA368857128 | DLD | c.787C>A (p.Arg263Ser) c.*461C>A (n.*461C>A) c.643C>A (p.Arg215Ser) c.718C>A (p.Arg240Ser) c.490C>A (p.Arg164Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915608C= | CA1732859347 | DLD | c.787C= (p.Arg263=) c.*461C= (n.*461C=) c.643C= (p.Arg215=) c.718C= (p.Arg240=) c.490C= (p.Arg164=) | |
| 7 | g.107915608C>G | CA368857130 | DLD | c.787C>G (p.Arg263Gly) c.*461C>G (n.*461C>G) c.643C>G (p.Arg215Gly) c.718C>G (p.Arg240Gly) c.490C>G (p.Arg164Gly) | |
| 7 | g.107915608C>T | CA4434559 | DLD | c.787C>T (p.Arg263Cys) c.*461C>T (n.*461C>T) c.643C>T (p.Arg215Cys) c.718C>T (p.Arg240Cys) c.490C>T (p.Arg164Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915609G>A | CA312466 | DLD | c.788G>A (p.Arg263His) c.*462G>A (n.*462G>A) c.644G>A (p.Arg215His) c.719G>A (p.Arg240His) c.491G>A (p.Arg164His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915609G>C | CA368857133 | DLD | c.788G>C (p.Arg263Pro) c.*462G>C (n.*462G>C) c.644G>C (p.Arg215Pro) c.719G>C (p.Arg240Pro) c.491G>C (p.Arg164Pro) | |
| 7 | g.107915609G= | CA1732859348 | DLD | c.788G= (p.Arg263=) c.*462G= (n.*462G=) c.644G= (p.Arg215=) c.719G= (p.Arg240=) c.491G= (p.Arg164=) | |
| 7 | g.107915609G>T | CA368857132 | DLD | c.788G>T (p.Arg263Leu) c.*462G>T (n.*462G>T) c.644G>T (p.Arg215Leu) c.719G>T (p.Arg240Leu) c.491G>T (p.Arg164Leu) | |
| 7 | g.107915610C>A | CA457108815 | DLD | c.789C>A (p.Arg263=) c.*463C>A (n.*463C>A) c.645C>A (p.Arg215=) c.720C>A (p.Arg240=) c.492C>A (p.Arg164=) | |
| 7 | g.107915610C>G | CA457108818 | DLD | c.789C>G (p.Arg263=) c.*463C>G (n.*463C>G) c.645C>G (p.Arg215=) c.720C>G (p.Arg240=) c.492C>G (p.Arg164=) | |
| 7 | g.107915610C>T | CA457108816 | DLD | c.789C>T (p.Arg263=) c.*463C>T (n.*463C>T) c.645C>T (p.Arg215=) c.720C>T (p.Arg240=) c.492C>T (p.Arg164=) | ClinVar |
| 7 | g.107915611A>C | CA368857135 | DLD | c.790A>C (p.Ile264Leu) c.*464A>C (n.*464A>C) c.646A>C (p.Ile216Leu) c.721A>C (p.Ile241Leu) c.493A>C (p.Ile165Leu) | |
| 7 | g.107915611A>G | CA368857137 | DLD | c.790A>G (p.Ile264Val) c.*464A>G (n.*464A>G) c.646A>G (p.Ile216Val) c.721A>G (p.Ile241Val) c.493A>G (p.Ile165Val) | |
| 7 | g.107915611A>T | CA368857139 | DLD | c.790A>T (p.Ile264Phe) c.*464A>T (n.*464A>T) c.646A>T (p.Ile216Phe) c.721A>T (p.Ile241Phe) c.493A>T (p.Ile165Phe) | |
| 7 | g.107915612T>A | CA368857140 | DLD | c.791T>A (p.Ile264Asn) c.*465T>A (n.*465T>A) c.647T>A (p.Ile216Asn) c.722T>A (p.Ile241Asn) c.494T>A (p.Ile165Asn) | |
| 7 | g.107915612T>C | CA368857142 | DLD | c.791T>C (p.Ile264Thr) c.*465T>C (n.*465T>C) c.647T>C (p.Ile216Thr) c.722T>C (p.Ile241Thr) c.494T>C (p.Ile165Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915612T>G | CA368857144 | DLD | c.791T>G (p.Ile264Ser) c.*465T>G (n.*465T>G) c.647T>G (p.Ile216Ser) c.722T>G (p.Ile241Ser) c.494T>G (p.Ile165Ser) | |
| 7 | g.107915612T= | CA1732859349 | DLD | c.791T= (p.Ile264=) c.*465T= (n.*465T=) c.647T= (p.Ile216=) c.722T= (p.Ile241=) c.494T= (p.Ile165=) | |
| 7 | g.107915613C>A | CA457108822 | DLD | c.792C>A (p.Ile264=) c.*466C>A (n.*466C>A) c.648C>A (p.Ile216=) c.723C>A (p.Ile241=) c.495C>A (p.Ile165=) | |
| 7 | g.107915613C>G | CA368857146 | DLD | c.792C>G (p.Ile264Met) c.*466C>G (n.*466C>G) c.648C>G (p.Ile216Met) c.723C>G (p.Ile241Met) c.495C>G (p.Ile165Met) | |
| 7 | g.107915613C>T | CA457108823 | DLD | c.792C>T (p.Ile264=) c.*466C>T (n.*466C>T) c.648C>T (p.Ile216=) c.723C>T (p.Ile241=) c.495C>T (p.Ile165=) | |
| 7 | g.107915614C>A | CA368857148 | DLD | c.793C>A (p.Leu265Ile) c.*467C>A (n.*467C>A) c.649C>A (p.Leu217Ile) c.724C>A (p.Leu242Ile) c.496C>A (p.Leu166Ile) | |
| 7 | g.107915614C>G | CA368857149 | DLD | c.793C>G (p.Leu265Val) c.*467C>G (n.*467C>G) c.649C>G (p.Leu217Val) c.724C>G (p.Leu242Val) c.496C>G (p.Leu166Val) | |
| 7 | g.107915614C>T | CA368857150 | DLD | c.793C>T (p.Leu265Phe) c.*467C>T (n.*467C>T) c.649C>T (p.Leu217Phe) c.724C>T (p.Leu242Phe) c.496C>T (p.Leu166Phe) | gnomAD v4 COSMIC COSMIC |
| 7 | g.107915615T>A | CA368857156 | DLD | c.794T>A (p.Leu265His) c.*468T>A (n.*468T>A) c.650T>A (p.Leu217His) c.725T>A (p.Leu242His) c.497T>A (p.Leu166His) | |
| 7 | g.107915615T>C | CA368857155 | DLD | c.794T>C (p.Leu265Pro) c.*468T>C (n.*468T>C) c.650T>C (p.Leu217Pro) c.725T>C (p.Leu242Pro) c.497T>C (p.Leu166Pro) | |
| 7 | g.107915615T>G | CA368857153 | DLD | c.794T>G (p.Leu265Arg) c.*468T>G (n.*468T>G) c.650T>G (p.Leu217Arg) c.725T>G (p.Leu242Arg) c.497T>G (p.Leu166Arg) | |
| 7 | g.107915616T>A | CA457108828 | DLD | c.795T>A (p.Leu265=) c.*469T>A (n.*469T>A) c.651T>A (p.Leu217=) c.726T>A (p.Leu242=) c.498T>A (p.Leu166=) | |
| 7 | g.107915616T>C | CA457108829 | DLD | c.795T>C (p.Leu265=) c.*469T>C (n.*469T>C) c.651T>C (p.Leu217=) c.726T>C (p.Leu242=) c.498T>C (p.Leu166=) | |
| 7 | g.107915616T>G | CA457108830 | DLD | c.795T>G (p.Leu265=) c.*469T>G (n.*469T>G) c.651T>G (p.Leu217=) c.726T>G (p.Leu242=) c.498T>G (p.Leu166=) | |
| 7 | g.107915617C>A | CA368857159 | DLD | c.796C>A (p.Gln266Lys) c.*470C>A (n.*470C>A) c.652C>A (p.Gln218Lys) c.727C>A (p.Gln243Lys) c.499C>A (p.Gln167Lys) | |
| 7 | g.107915617C>G | CA368857160 | DLD | c.796C>G (p.Gln266Glu) c.*470C>G (n.*470C>G) c.652C>G (p.Gln218Glu) c.727C>G (p.Gln243Glu) c.499C>G (p.Gln167Glu) | |
| 7 | g.107915617C>T | CA368857162 | DLD | c.796C>T (p.Gln266Ter) c.*470C>T (n.*470C>T) c.652C>T (p.Gln218Ter) c.727C>T (p.Gln243Ter) c.499C>T (p.Gln167Ter) | |
| 7 | g.107915618A>C | CA368857165 | DLD | c.797A>C (p.Gln266Pro) c.*471A>C (n.*471A>C) c.653A>C (p.Gln218Pro) c.728A>C (p.Gln243Pro) c.500A>C (p.Gln167Pro) | |
| 7 | g.107915618A>G | CA368857166 | DLD | c.797A>G (p.Gln266Arg) c.*471A>G (n.*471A>G) c.653A>G (p.Gln218Arg) c.728A>G (p.Gln243Arg) c.500A>G (p.Gln167Arg) | |
| 7 | g.107915618A>T | CA368857168 | DLD | c.797A>T (p.Gln266Leu) c.*471A>T (n.*471A>T) c.653A>T (p.Gln218Leu) c.728A>T (p.Gln243Leu) c.500A>T (p.Gln167Leu) | |
| 7 | g.107915622del | CA2580076200 | DLD | c.801del (p.Lys267AsnfsTer8) c.*475del (n.*475del) c.657del (p.Lys219AsnfsTer8) c.732del (p.Lys244AsnfsTer8) c.504del (p.Lys168AsnfsTer8) | ClinVar |
| 7 | g.107915619A>C | CA368857169 | DLD | c.798A>C (p.Gln266His) c.*472A>C (n.*472A>C) c.654A>C (p.Gln218His) c.729A>C (p.Gln243His) c.501A>C (p.Gln167His) | |
| 7 | g.107915619A>G | CA457108834 | DLD | c.798A>G (p.Gln266=) c.*472A>G (n.*472A>G) c.654A>G (p.Gln218=) c.729A>G (p.Gln243=) c.501A>G (p.Gln167=) | gnomAD v4 |
| 7 | g.107915619A>T | CA368857170 | DLD | c.798A>T (p.Gln266His) c.*472A>T (n.*472A>T) c.654A>T (p.Gln218His) c.729A>T (p.Gln243His) c.501A>T (p.Gln167His) | |
| 7 | g.107915620A>C | CA368857171 | DLD | c.799A>C (p.Lys267Gln) c.*473A>C (n.*473A>C) c.655A>C (p.Lys219Gln) c.730A>C (p.Lys244Gln) c.502A>C (p.Lys168Gln) | |
| 7 | g.107915620A>G | CA368857172 | DLD | c.799A>G (p.Lys267Glu) c.*473A>G (n.*473A>G) c.655A>G (p.Lys219Glu) c.730A>G (p.Lys244Glu) c.502A>G (p.Lys168Glu) | |
| 7 | g.107915620A>T | CA368857173 | DLD | c.799A>T (p.Lys267Ter) c.*473A>T (n.*473A>T) c.655A>T (p.Lys219Ter) c.730A>T (p.Lys244Ter) c.502A>T (p.Lys168Ter) | |
| 7 | g.107915621A>C | CA368857175 | DLD | c.800A>C (p.Lys267Thr) c.*474A>C (n.*474A>C) c.656A>C (p.Lys219Thr) c.731A>C (p.Lys244Thr) c.503A>C (p.Lys168Thr) | |
| 7 | g.107915621A>G | CA368857176 | DLD | c.800A>G (p.Lys267Arg) c.*474A>G (n.*474A>G) c.656A>G (p.Lys219Arg) c.731A>G (p.Lys244Arg) c.503A>G (p.Lys168Arg) | |
| 7 | g.107915621A>T | CA368857174 | DLD | c.800A>T (p.Lys267Ile) c.*474A>T (n.*474A>T) c.656A>T (p.Lys219Ile) c.731A>T (p.Lys244Ile) c.503A>T (p.Lys168Ile) | |
| 7 | g.107915622A>C | CA368857177 | DLD | c.801A>C (p.Lys267Asn) c.*475A>C (n.*475A>C) c.657A>C (p.Lys219Asn) c.732A>C (p.Lys244Asn) c.504A>C (p.Lys168Asn) | |
| 7 | g.107915622A>G | CA457108838 | DLD | c.801A>G (p.Lys267=) c.*475A>G (n.*475A>G) c.657A>G (p.Lys219=) c.732A>G (p.Lys244=) c.504A>G (p.Lys168=) | |
| 7 | g.107915622A>T | CA368857178 | DLD | c.801A>T (p.Lys267Asn) c.*475A>T (n.*475A>T) c.657A>T (p.Lys219Asn) c.732A>T (p.Lys244Asn) c.504A>T (p.Lys168Asn) |