Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.46725917_46725918del | CA645571955 | F2 | c.618_619del (p.Ser207ThrfsTer9) c.588_589del (p.Ser197ThrfsTer9) n.398_399del c.570_571del (p.Ser191ThrfsTer9) n.662_663del n.653_654del | COSMIC |
11 | g.46725917G>A | CA474043514 | F2 | c.618G>A (p.Leu206=) c.588G>A (p.Leu196=) n.398G>A c.570G>A (p.Leu190=) n.662G>A n.653G>A | |
11 | g.46725917G>C | CA474043516 | F2 | c.618G>C (p.Leu206=) c.588G>C (p.Leu196=) n.398G>C c.570G>C (p.Leu190=) n.662G>C n.653G>C | |
11 | g.46725917G>T | CA474043517 | F2 | c.618G>T (p.Leu206=) c.588G>T (p.Leu196=) n.398G>T c.570G>T (p.Leu190=) n.662G>T n.653G>T | |
11 | g.46725918T>A | CA380264802 | F2 | c.619T>A (p.Ser207Thr) c.589T>A (p.Ser197Thr) n.399T>A c.571T>A (p.Ser191Thr) n.663T>A n.654T>A | |
11 | g.46725918T>C | CA380264798 | F2 | c.619T>C (p.Ser207Pro) c.589T>C (p.Ser197Pro) n.399T>C c.571T>C (p.Ser191Pro) n.663T>C n.654T>C | gnomAD v4 |
11 | g.46725918T>G | CA380264800 | F2 | c.619T>G (p.Ser207Ala) c.589T>G (p.Ser197Ala) n.399T>G c.571T>G (p.Ser191Ala) n.663T>G n.654T>G | |
11 | g.46725919C>A | CA380264803 | F2 | c.620C>A (p.Ser207Ter) c.590C>A (p.Ser197Ter) n.400C>A c.572C>A (p.Ser191Ter) n.664C>A n.655C>A | |
11 | g.46725919C>G | CA380264805 | F2 | c.620C>G (p.Ser207Ter) c.590C>G (p.Ser197Ter) n.400C>G c.572C>G (p.Ser191Ter) n.664C>G n.655C>G | |
11 | g.46725919C>T | CA380264806 | F2 | c.620C>T (p.Ser207Leu) c.590C>T (p.Ser197Leu) n.400C>T c.572C>T (p.Ser191Leu) n.664C>T n.655C>T | |
11 | g.46725920A= | CA1969071985 | F2 | c.621A= (p.Ser207=) c.591A= (p.Ser197=) n.401A= c.573A= (p.Ser191=) n.665A= n.656A= | |
11 | g.46725920A>C | CA474043520 | F2 | c.621A>C (p.Ser207=) c.591A>C (p.Ser197=) n.401A>C c.573A>C (p.Ser191=) n.665A>C n.656A>C | dbSNP |
11 | g.46725920A>G | CA474043521 | F2 | c.621A>G (p.Ser207=) c.591A>G (p.Ser197=) n.401A>G c.573A>G (p.Ser191=) n.665A>G n.656A>G | |
11 | g.46725920A>T | CA474043523 | F2 | c.621A>T (p.Ser207=) c.591A>T (p.Ser197=) n.401A>T c.573A>T (p.Ser191=) n.665A>T n.656A>T | |
11 | g.46725921C>A | CA380264808 | F2 | c.622C>A (p.Pro208Thr) c.592C>A (p.Pro198Thr) n.402C>A c.574C>A (p.Pro192Thr) n.666C>A n.657C>A | |
11 | g.46725921C>G | CA380264810 | F2 | c.622C>G (p.Pro208Ala) c.592C>G (p.Pro198Ala) n.402C>G c.574C>G (p.Pro192Ala) n.666C>G n.657C>G | gnomAD v4 |
11 | g.46725921C>T | CA380264812 | F2 | c.622C>T (p.Pro208Ser) c.592C>T (p.Pro198Ser) n.402C>T c.574C>T (p.Pro192Ser) n.666C>T n.657C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.46725922C>A | CA380264814 | F2 | c.623C>A (p.Pro208His) c.593C>A (p.Pro198His) n.403C>A c.575C>A (p.Pro192His) n.667C>A n.658C>A | |
11 | g.46725922C>G | CA380264815 | F2 | c.623C>G (p.Pro208Arg) c.593C>G (p.Pro198Arg) n.403C>G c.575C>G (p.Pro192Arg) n.667C>G n.658C>G | |
11 | g.46725922C>T | CA380264817 | F2 | c.623C>T (p.Pro208Leu) c.593C>T (p.Pro198Leu) n.403C>T c.575C>T (p.Pro192Leu) n.667C>T n.658C>T | |
11 | g.46725923T>A | CA474043533 | F2 | c.624T>A (p.Pro208=) c.594T>A (p.Pro198=) n.404T>A c.576T>A (p.Pro192=) n.668T>A n.659T>A | |
11 | g.46725923T>C | CA474043528 | F2 | c.624T>C (p.Pro208=) c.594T>C (p.Pro198=) n.404T>C c.576T>C (p.Pro192=) n.668T>C n.659T>C | |
11 | g.46725923T>G | CA474043525 | F2 | c.624T>G (p.Pro208=) c.594T>G (p.Pro198=) n.404T>G c.576T>G (p.Pro192=) n.668T>G n.659T>G | |
11 | g.46725924C>A | CA380264818 | F2 | c.625C>A (p.Pro209Thr) c.595C>A (p.Pro199Thr) n.405C>A c.577C>A (p.Pro193Thr) n.669C>A n.660C>A | |
11 | g.46725924C= | CA1969071987 | F2 | c.625C= (p.Pro209=) c.595C= (p.Pro199=) n.405C= c.577C= (p.Pro193=) n.669C= n.660C= | |
11 | g.46725924C>G | CA380264819 | F2 | c.625C>G (p.Pro209Ala) c.595C>G (p.Pro199Ala) n.405C>G c.577C>G (p.Pro193Ala) n.669C>G n.660C>G | |
11 | g.46725924C>T | CA380264822 | F2 | c.625C>T (p.Pro209Ser) c.595C>T (p.Pro199Ser) n.405C>T c.577C>T (p.Pro193Ser) n.669C>T n.660C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.46725925C>A | CA380264824 | F2 | c.626C>A (p.Pro209Gln) c.596C>A (p.Pro199Gln) n.406C>A c.578C>A (p.Pro193Gln) n.670C>A n.661C>A | |
11 | g.46725925C>G | CA380264826 | F2 | c.626C>G (p.Pro209Arg) c.596C>G (p.Pro199Arg) n.406C>G c.578C>G (p.Pro193Arg) n.670C>G n.661C>G | |
11 | g.46725925C>T | CA380264825 | F2 | c.626C>T (p.Pro209Leu) c.596C>T (p.Pro199Leu) n.406C>T c.578C>T (p.Pro193Leu) n.670C>T n.661C>T | COSMIC |
11 | g.46725926A= | CA1969071994 | F2 | c.627A= (p.Pro209=) c.597A= (p.Pro199=) n.407A= c.579A= (p.Pro193=) n.671A= n.662A= | |
11 | g.46725926A>C | CA474043540 | F2 | c.627A>C (p.Pro209=) c.597A>C (p.Pro199=) n.407A>C c.579A>C (p.Pro193=) n.671A>C n.662A>C | |
11 | g.46725926A>G | CA5967023 | F2 | c.627A>G (p.Pro209=) c.597A>G (p.Pro199=) n.407A>G c.579A>G (p.Pro193=) n.671A>G n.662A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46725926A>T | CA474043543 | F2 | c.627A>T (p.Pro209=) c.597A>T (p.Pro199=) n.407A>T c.579A>T (p.Pro193=) n.671A>T n.662A>T | |
11 | g.46725927T>A | CA380264830 | F2 | c.628T>A (p.Leu210Met) c.598T>A (p.Leu200Met) n.408T>A c.580T>A (p.Leu194Met) n.672T>A n.663T>A | |
11 | g.46725927T>C | CA5967024 | F2 | c.628T>C (p.Leu210=) c.598T>C (p.Leu200=) n.408T>C c.580T>C (p.Leu194=) n.672T>C n.663T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725927T>G | CA380264831 | F2 | c.628T>G (p.Leu210Val) c.598T>G (p.Leu200Val) n.408T>G c.580T>G (p.Leu194Val) n.672T>G n.663T>G | |
11 | g.46725927T= | CA1969071996 | F2 | c.628T= (p.Leu210=) c.598T= (p.Leu200=) n.408T= c.580T= (p.Leu194=) n.672T= n.663T= | |
11 | g.46725928T>A | CA380264832 | F2 | c.629T>A (p.Leu210Ter) c.599T>A (p.Leu200Ter) n.409T>A c.581T>A (p.Leu194Ter) n.673T>A n.664T>A | |
11 | g.46725928T>C | CA221651942 | F2 | c.629T>C (p.Leu210Ser) c.599T>C (p.Leu200Ser) n.409T>C c.581T>C (p.Leu194Ser) n.673T>C n.664T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.46725928T>G | CA380264833 | F2 | c.629T>G (p.Leu210Trp) c.599T>G (p.Leu200Trp) n.409T>G c.581T>G (p.Leu194Trp) n.673T>G n.664T>G | |
11 | g.46725928T= | CA1969072000 | F2 | c.629T= (p.Leu210=) c.599T= (p.Leu200=) n.409T= c.581T= (p.Leu194=) n.673T= n.664T= | |
11 | g.46725929G>A | CA474043548 | F2 | c.630G>A (p.Leu210=) c.600G>A (p.Leu200=) n.410G>A c.582G>A (p.Leu194=) n.674G>A n.665G>A | dbSNP |
11 | g.46725929G>C | CA380264835 | F2 | c.630G>C (p.Leu210Phe) c.600G>C (p.Leu200Phe) n.410G>C c.582G>C (p.Leu194Phe) n.674G>C n.665G>C | |
11 | g.46725929G>T | CA380264837 | F2 | c.630G>T (p.Leu210Phe) c.600G>T (p.Leu200Phe) n.410G>T c.582G>T (p.Leu194Phe) n.674G>T n.665G>T | gnomAD v4 |
11 | g.46725930G>A | CA380264838 | F2 | c.631G>A (p.Glu211Lys) c.601G>A (p.Glu201Lys) n.411G>A c.583G>A (p.Glu195Lys) n.675G>A n.666G>A | gnomAD v4 COSMIC |
11 | g.46725930G>C | CA380264839 | F2 | c.631G>C (p.Glu211Gln) c.601G>C (p.Glu201Gln) n.411G>C c.583G>C (p.Glu195Gln) n.675G>C n.666G>C | |
11 | g.46725930G>T | CA380264841 | F2 | c.631G>T (p.Glu211Ter) c.601G>T (p.Glu201Ter) n.411G>T c.583G>T (p.Glu195Ter) n.675G>T n.666G>T | |
11 | g.46725931A>C | CA380264843 | F2 | c.632A>C (p.Glu211Ala) c.602A>C (p.Glu201Ala) n.412A>C c.584A>C (p.Glu195Ala) n.676A>C n.667A>C | |
11 | g.46725931A>G | CA380264845 | F2 | c.632A>G (p.Glu211Gly) c.602A>G (p.Glu201Gly) n.412A>G c.584A>G (p.Glu195Gly) n.676A>G n.667A>G | dbSNP |
11 | g.46725931A>T | CA380264846 | F2 | c.632A>T (p.Glu211Val) c.602A>T (p.Glu201Val) n.412A>T c.584A>T (p.Glu195Val) n.676A>T n.667A>T | |
11 | g.46725932G>A | CA474043555 | F2 | c.633G>A (p.Glu211=) c.603G>A (p.Glu201=) n.413G>A c.585G>A (p.Glu195=) n.677G>A n.668G>A | |
11 | g.46725932G>C | CA380264847 | F2 | c.633G>C (p.Glu211Asp) c.603G>C (p.Glu201Asp) n.413G>C c.585G>C (p.Glu195Asp) n.677G>C n.668G>C | |
11 | g.46725932G>T | CA380264848 | F2 | c.633G>T (p.Glu211Asp) c.603G>T (p.Glu201Asp) n.413G>T c.585G>T (p.Glu195Asp) n.677G>T n.668G>T | |
11 | g.46725933C>A | CA380264849 | F2 | c.634C>A (p.Gln212Lys) c.604C>A (p.Gln202Lys) n.414C>A c.586C>A (p.Gln196Lys) n.678C>A n.669C>A | dbSNP gnomAD v2 |
11 | g.46725933C= | CA1969072003 | F2 | c.634C= (p.Gln212=) c.604C= (p.Gln202=) n.414C= c.586C= (p.Gln196=) n.678C= n.669C= | |
11 | g.46725933C>G | CA380264851 | F2 | c.634C>G (p.Gln212Glu) c.604C>G (p.Gln202Glu) n.414C>G c.586C>G (p.Gln196Glu) n.678C>G n.669C>G | |
11 | g.46725933C>T | CA380264852 | F2 | c.634C>T (p.Gln212Ter) c.604C>T (p.Gln202Ter) n.414C>T c.586C>T (p.Gln196Ter) n.678C>T n.669C>T | |
11 | g.46725934A>C | CA380264857 | F2 | c.635A>C (p.Gln212Pro) c.605A>C (p.Gln202Pro) n.415A>C c.587A>C (p.Gln196Pro) n.679A>C n.670A>C | |
11 | g.46725934A>G | CA380264854 | F2 | c.635A>G (p.Gln212Arg) c.605A>G (p.Gln202Arg) n.415A>G c.587A>G (p.Gln196Arg) n.679A>G n.670A>G | |
11 | g.46725934A>T | CA380264856 | F2 | c.635A>T (p.Gln212Leu) c.605A>T (p.Gln202Leu) n.415A>T c.587A>T (p.Gln196Leu) n.679A>T n.670A>T | |
11 | g.46725935G>A | CA474043562 | F2 | c.636G>A (p.Gln212=) c.606G>A (p.Gln202=) n.416G>A c.588G>A (p.Gln196=) n.680G>A n.671G>A | |
11 | g.46725935G>C | CA380264859 | F2 | c.636G>C (p.Gln212His) c.606G>C (p.Gln202His) n.416G>C c.588G>C (p.Gln196His) n.680G>C n.671G>C | |
11 | g.46725935G>T | CA380264861 | F2 | c.636G>T (p.Gln212His) c.606G>T (p.Gln202His) n.416G>T c.588G>T (p.Gln196His) n.680G>T n.671G>T | |
11 | g.46725936T>A | CA380264863 | F2 | c.637T>A (p.Cys213Ser) c.607T>A (p.Cys203Ser) n.417T>A c.589T>A (p.Cys197Ser) n.681T>A n.672T>A | |
11 | g.46725936T>C | CA380264864 | F2 | c.637T>C (p.Cys213Arg) c.607T>C (p.Cys203Arg) n.417T>C c.589T>C (p.Cys197Arg) n.681T>C n.672T>C | |
11 | g.46725936T>G | CA380264865 | F2 | c.637T>G (p.Cys213Gly) c.607T>G (p.Cys203Gly) n.417T>G c.589T>G (p.Cys197Gly) n.681T>G n.672T>G | |
11 | g.46725937G>A | CA380264866 | F2 | c.638G>A (p.Cys213Tyr) c.608G>A (p.Cys203Tyr) n.418G>A c.590G>A (p.Cys197Tyr) n.682G>A n.673G>A | dbSNP |
11 | g.46725937G>C | CA380264868 | F2 | c.638G>C (p.Cys213Ser) c.608G>C (p.Cys203Ser) n.418G>C c.590G>C (p.Cys197Ser) n.682G>C n.673G>C | |
11 | g.46725937G= | CA1969072007 | F2 | c.638G= (p.Cys213=) c.608G= (p.Cys203=) n.418G= c.590G= (p.Cys197=) n.682G= n.673G= | |
11 | g.46725937G>T | CA380264869 | F2 | c.638G>T (p.Cys213Phe) c.608G>T (p.Cys203Phe) n.418G>T c.590G>T (p.Cys197Phe) n.682G>T n.673G>T | |
11 | g.46725938T>A | CA380264871 | F2 | c.639T>A (p.Cys213Ter) c.609T>A (p.Cys203Ter) n.419T>A c.591T>A (p.Cys197Ter) n.683T>A n.674T>A | |
11 | g.46725938T>C | CA474043568 | F2 | c.639T>C (p.Cys213=) c.609T>C (p.Cys203=) n.419T>C c.591T>C (p.Cys197=) n.683T>C n.674T>C | gnomAD v4 |
11 | g.46725938T>G | CA380264873 | F2 | c.639T>G (p.Cys213Trp) c.609T>G (p.Cys203Trp) n.419T>G c.591T>G (p.Cys197Trp) n.683T>G n.674T>G | |
11 | g.46725939G>A | CA5967025 | F2 | c.640G>A (p.Val214Ile) c.610G>A (p.Val204Ile) n.420G>A c.592G>A (p.Val198Ile) n.684G>A n.675G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46725939G>C | CA380264880 | F2 | c.640G>C (p.Val214Leu) c.610G>C (p.Val204Leu) n.420G>C c.592G>C (p.Val198Leu) n.684G>C n.675G>C | |
11 | g.46725939G= | CA1969072016 | F2 | c.640G= (p.Val214=) c.610G= (p.Val204=) n.420G= c.592G= (p.Val198=) n.684G= n.675G= | |
11 | g.46725939G>T | CA380264875 | F2 | c.640G>T (p.Val214Phe) c.610G>T (p.Val204Phe) n.420G>T c.592G>T (p.Val198Phe) n.684G>T n.675G>T | dbSNP |
11 | g.46725940T>A | CA380264883 | F2 | c.641T>A (p.Val214Asp) c.611T>A (p.Val204Asp) n.421T>A c.593T>A (p.Val198Asp) n.685T>A n.676T>A | |
11 | g.46725940T>C | CA380264885 | F2 | c.641T>C (p.Val214Ala) c.611T>C (p.Val204Ala) n.421T>C c.593T>C (p.Val198Ala) n.685T>C n.676T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46725940T>G | CA380264886 | F2 | c.641T>G (p.Val214Gly) c.611T>G (p.Val204Gly) n.421T>G c.593T>G (p.Val198Gly) n.685T>G n.676T>G | |
11 | g.46725940T= | CA1969072019 | F2 | c.641T= (p.Val214=) c.611T= (p.Val204=) n.421T= c.593T= (p.Val198=) n.685T= n.676T= | |
11 | g.46725941C>A | CA5967027 | F2 | c.642C>A (p.Val214=) c.612C>A (p.Val204=) n.422C>A c.594C>A (p.Val198=) n.686C>A n.677C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46725941C= | CA1969072023 | F2 | c.642C= (p.Val214=) c.612C= (p.Val204=) n.422C= c.594C= (p.Val198=) n.686C= n.677C= | |
11 | g.46725941C>G | CA474043576 | F2 | c.642C>G (p.Val214=) c.612C>G (p.Val204=) n.422C>G c.594C>G (p.Val198=) n.686C>G n.677C>G | |
11 | g.46725941C>T | CA5967026 | F2 | c.642C>T (p.Val214=) c.612C>T (p.Val204=) n.422C>T c.594C>T (p.Val198=) n.686C>T n.677C>T | dbSNP ExAC |
11 | g.46725942C>A | CA380264890 | F2 | c.643C>A (p.Pro215Thr) c.613C>A (p.Pro205Thr) n.423C>A c.595C>A (p.Pro199Thr) n.687C>A n.678C>A | |
11 | g.46725942C>G | CA380264891 | F2 | c.643C>G (p.Pro215Ala) c.613C>G (p.Pro205Ala) n.423C>G c.595C>G (p.Pro199Ala) n.687C>G n.678C>G | |
11 | g.46725942C>T | CA380264893 | F2 | c.643C>T (p.Pro215Ser) c.613C>T (p.Pro205Ser) n.423C>T c.595C>T (p.Pro199Ser) n.687C>T n.678C>T | |
11 | g.46725943C>A | CA380264895 | F2 | c.644C>A (p.Pro215His) c.614C>A (p.Pro205His) n.424C>A c.596C>A (p.Pro199His) n.688C>A n.679C>A | |
11 | g.46725943C= | CA1969072026 | F2 | c.644C= (p.Pro215=) c.614C= (p.Pro205=) n.424C= c.596C= (p.Pro199=) n.688C= n.679C= | |
11 | g.46725943C>G | CA5967028 | F2 | c.644C>G (p.Pro215Arg) c.614C>G (p.Pro205Arg) n.424C>G c.596C>G (p.Pro199Arg) n.688C>G n.679C>G | dbSNP ExAC gnomAD v2 |
11 | g.46725943C>T | CA380264897 | F2 | c.644C>T (p.Pro215Leu) c.614C>T (p.Pro205Leu) n.424C>T c.596C>T (p.Pro199Leu) n.688C>T n.679C>T | |
11 | g.46725944T>A | CA474043586 | F2 | c.645T>A (p.Pro215=) c.615T>A (p.Pro205=) n.425T>A c.597T>A (p.Pro199=) n.689T>A n.680T>A | |
11 | g.46725944T>C | CA474043587 | F2 | c.645T>C (p.Pro215=) c.615T>C (p.Pro205=) n.425T>C c.597T>C (p.Pro199=) n.689T>C n.680T>C | |
11 | g.46725944T>G | CA474043588 | F2 | c.645T>G (p.Pro215=) c.615T>G (p.Pro205=) n.425T>G c.597T>G (p.Pro199=) n.689T>G n.680T>G | gnomAD v4 |
11 | g.46725945G>A | CA380264902 | F2 | c.646G>A (p.Asp216Asn) c.616G>A (p.Asp206Asn) n.426G>A c.598G>A (p.Asp200Asn) n.690G>A n.681G>A | |
11 | g.46725945G>C | CA380264900 | F2 | c.646G>C (p.Asp216His) c.616G>C (p.Asp206His) n.426G>C c.598G>C (p.Asp200His) n.690G>C n.681G>C | dbSNP gnomAD v2 |
11 | g.46725945G= | CA1969072030 | F2 | c.646G= (p.Asp216=) c.616G= (p.Asp206=) n.426G= c.598G= (p.Asp200=) n.690G= n.681G= | |
11 | g.46725945G>T | CA380264899 | F2 | c.646G>T (p.Asp216Tyr) c.616G>T (p.Asp206Tyr) n.426G>T c.598G>T (p.Asp200Tyr) n.690G>T n.681G>T | |
11 | g.46725946A= | CA1969072035 | F2 | c.647A= (p.Asp216=) c.617A= (p.Asp206=) n.427A= c.599A= (p.Asp200=) n.691A= n.682A= | |
11 | g.46725946A>C | CA380264903 | F2 | c.647A>C (p.Asp216Ala) c.617A>C (p.Asp206Ala) n.427A>C c.599A>C (p.Asp200Ala) n.691A>C n.682A>C | |
11 | g.46725946A>G | CA5967029 | F2 | c.647A>G (p.Asp216Gly) c.617A>G (p.Asp206Gly) n.427A>G c.599A>G (p.Asp200Gly) n.691A>G n.682A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725946A>T | CA380264905 | F2 | c.647A>T (p.Asp216Val) c.617A>T (p.Asp206Val) n.427A>T c.599A>T (p.Asp200Val) n.691A>T n.682A>T | |
11 | g.46725947T>A | CA221651967 | F2 | c.648T>A (p.Asp216Glu) c.618T>A (p.Asp206Glu) n.428T>A c.600T>A (p.Asp200Glu) n.692T>A n.683T>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.46725947T>C | CA474043595 | F2 | c.648T>C (p.Asp216=) c.618T>C (p.Asp206=) n.428T>C c.600T>C (p.Asp200=) n.692T>C n.683T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.46725947T>G | CA5967030 | F2 | c.648T>G (p.Asp216Glu) c.618T>G (p.Asp206Glu) n.428T>G c.600T>G (p.Asp200Glu) n.692T>G n.683T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725947T= | CA1969072042 | F2 | c.648T= (p.Asp216=) c.618T= (p.Asp206=) n.428T= c.600T= (p.Asp200=) n.692T= n.683T= | |
11 | g.46725948C>A | CA474043601 | F2 | c.649C>A (p.Arg217=) c.619C>A (p.Arg207=) n.429C>A c.601C>A (p.Arg201=) n.693C>A n.684C>A | gnomAD v4 |
11 | g.46725948C= | CA1969072046 | F2 | c.649C= (p.Arg217=) c.619C= (p.Arg207=) n.429C= c.601C= (p.Arg201=) n.693C= n.684C= | |
11 | g.46725948C>G | CA380264907 | F2 | c.649C>G (p.Arg217Gly) c.619C>G (p.Arg207Gly) n.429C>G c.601C>G (p.Arg201Gly) n.693C>G n.684C>G | |
11 | g.46725948C>T | CA5967031 | F2 | c.649C>T (p.Arg217Trp) c.619C>T (p.Arg207Trp) n.429C>T c.601C>T (p.Arg201Trp) n.693C>T n.684C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.46725949G>A | CA5967032 | F2 | c.650G>A (p.Arg217Gln) c.620G>A (p.Arg207Gln) n.430G>A c.602G>A (p.Arg201Gln) n.694G>A n.685G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.46725949G>C | CA380264910 | F2 | c.650G>C (p.Arg217Pro) c.620G>C (p.Arg207Pro) n.430G>C c.602G>C (p.Arg201Pro) n.694G>C n.685G>C | |
11 | g.46725949G= | CA1969072048 | F2 | c.650G= (p.Arg217=) c.620G= (p.Arg207=) n.430G= c.602G= (p.Arg201=) n.694G= n.685G= | |
11 | g.46725949G>T | CA380264911 | F2 | c.650G>T (p.Arg217Leu) c.620G>T (p.Arg207Leu) n.430G>T c.602G>T (p.Arg201Leu) n.694G>T n.685G>T | |
11 | g.46725953dup | CA2791314813 | F2 | c.654dup (p.Gln219AlafsTer?) c.624dup (p.Gln209AlafsTer?) n.434dup c.606dup (p.Gln203AlafsTer?) n.698dup n.689dup | |
11 | g.46725950G>A | CA474043608 | F2 | c.651G>A (p.Arg217=) c.621G>A (p.Arg207=) n.431G>A c.603G>A (p.Arg201=) n.695G>A n.686G>A | COSMIC |
11 | g.46725950G>C | CA474043609 | F2 | c.651G>C (p.Arg217=) c.621G>C (p.Arg207=) n.431G>C c.603G>C (p.Arg201=) n.695G>C n.686G>C | |
11 | g.46725950G>T | CA474043610 | F2 | c.651G>T (p.Arg217=) c.621G>T (p.Arg207=) n.431G>T c.603G>T (p.Arg201=) n.695G>T n.686G>T | |
11 | g.46725951G>A | CA380264913 | F2 | c.652G>A (p.Gly218Arg) c.622G>A (p.Gly208Arg) n.432G>A c.604G>A (p.Gly202Arg) n.696G>A n.687G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46725951G>C | CA380264915 | F2 | c.652G>C (p.Gly218Arg) c.622G>C (p.Gly208Arg) n.432G>C c.604G>C (p.Gly202Arg) n.696G>C n.687G>C | |
11 | g.46725951G= | CA1969072053 | F2 | c.652G= (p.Gly218=) c.622G= (p.Gly208=) n.432G= c.604G= (p.Gly202=) n.696G= n.687G= | |
11 | g.46725951G>T | CA380264916 | F2 | c.652G>T (p.Gly218Trp) c.622G>T (p.Gly208Trp) n.432G>T c.604G>T (p.Gly202Trp) n.696G>T n.687G>T | |
11 | g.46725952G>A | CA380264920 | F2 | c.653G>A (p.Gly218Glu) c.623G>A (p.Gly208Glu) n.433G>A c.605G>A (p.Gly202Glu) n.697G>A n.688G>A | COSMIC |
11 | g.46725952G>C | CA380264922 | F2 | c.653G>C (p.Gly218Ala) c.623G>C (p.Gly208Ala) n.433G>C c.605G>C (p.Gly202Ala) n.697G>C n.688G>C | |
11 | g.46725952G>T | CA380264918 | F2 | c.653G>T (p.Gly218Val) c.623G>T (p.Gly208Val) n.433G>T c.605G>T (p.Gly202Val) n.697G>T n.688G>T | gnomAD v4 |
11 | g.46725953G>A | CA474043619 | F2 | c.654G>A (p.Gly218=) c.624G>A (p.Gly208=) n.434G>A c.606G>A (p.Gly202=) n.698G>A n.689G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46725953G>C | CA474043621 | F2 | c.654G>C (p.Gly218=) c.624G>C (p.Gly208=) n.434G>C c.606G>C (p.Gly202=) n.698G>C n.689G>C | |
11 | g.46725953G= | CA1969072056 | F2 | c.654G= (p.Gly218=) c.624G= (p.Gly208=) n.434G= c.606G= (p.Gly202=) n.698G= n.689G= | |
11 | g.46725953G>T | CA474043622 | F2 | c.654G>T (p.Gly218=) c.624G>T (p.Gly208=) n.434G>T c.606G>T (p.Gly202=) n.698G>T n.689G>T | gnomAD v4 |
11 | g.46725954C>A | CA380264927 | F2 | c.655C>A (p.Gln219Lys) c.625C>A (p.Gln209Lys) n.435C>A c.607C>A (p.Gln203Lys) n.699C>A n.690C>A | |
11 | g.46725954C= | CA1969072060 | F2 | c.655C= (p.Gln219=) c.625C= (p.Gln209=) n.435C= c.607C= (p.Gln203=) n.699C= n.690C= | |
11 | g.46725954C>G | CA380264923 | F2 | c.655C>G (p.Gln219Glu) c.625C>G (p.Gln209Glu) n.435C>G c.607C>G (p.Gln203Glu) n.699C>G n.690C>G | |
11 | g.46725954C>T | CA380264925 | F2 | c.655C>T (p.Gln219Ter) c.625C>T (p.Gln209Ter) n.435C>T c.607C>T (p.Gln203Ter) n.699C>T n.690C>T | dbSNP gnomAD v2 |
11 | g.46725955A>C | CA380264929 | F2 | c.656A>C (p.Gln219Pro) c.626A>C (p.Gln209Pro) n.436A>C c.608A>C (p.Gln203Pro) n.700A>C n.691A>C | |
11 | g.46725955A>G | CA380264930 | F2 | c.656A>G (p.Gln219Arg) c.626A>G (p.Gln209Arg) n.436A>G c.608A>G (p.Gln203Arg) n.700A>G n.691A>G | |
11 | g.46725955A>T | CA380264931 | F2 | c.656A>T (p.Gln219Leu) c.626A>T (p.Gln209Leu) n.436A>T c.608A>T (p.Gln203Leu) n.700A>T n.691A>T | |
11 | g.46725956G>A | CA474043631 | F2 | c.657G>A (p.Gln219=) c.627G>A (p.Gln209=) n.437G>A c.609G>A (p.Gln203=) n.701G>A n.692G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725956G>C | CA380264932 | F2 | c.657G>C (p.Gln219His) c.627G>C (p.Gln209His) n.437G>C c.609G>C (p.Gln203His) n.701G>C n.692G>C | |
11 | g.46725956G= | CA1969072063 | F2 | c.657G= (p.Gln219=) c.627G= (p.Gln209=) n.437G= c.609G= (p.Gln203=) n.701G= n.692G= | |
11 | g.46725956G>T | CA380264934 | F2 | c.657G>T (p.Gln219His) c.627G>T (p.Gln209His) n.437G>T c.609G>T (p.Gln203His) n.701G>T n.692G>T | |
11 | g.46725957C>A | CA380264936 | F2 | c.658C>A (p.Gln220Lys) c.628C>A (p.Gln210Lys) n.438C>A c.610C>A (p.Gln204Lys) n.702C>A n.693C>A | |
11 | g.46725957C>G | CA380264937 | F2 | c.658C>G (p.Gln220Glu) c.628C>G (p.Gln210Glu) n.438C>G c.610C>G (p.Gln204Glu) n.702C>G n.693C>G | |
11 | g.46725957C>T | CA380264939 | F2 | c.658C>T (p.Gln220Ter) c.628C>T (p.Gln210Ter) n.438C>T c.610C>T (p.Gln204Ter) n.702C>T n.693C>T | |
11 | g.46725958A= | CA1969072066 | F2 | c.659A= (p.Gln220=) c.629A= (p.Gln210=) n.439A= c.611A= (p.Gln204=) n.703A= n.694A= | |
11 | g.46725958A>C | CA380264940 | F2 | c.659A>C (p.Gln220Pro) c.629A>C (p.Gln210Pro) n.439A>C c.611A>C (p.Gln204Pro) n.703A>C n.694A>C | dbSNP |
11 | g.46725958A>G | CA380264942 | F2 | c.659A>G (p.Gln220Arg) c.629A>G (p.Gln210Arg) n.439A>G c.611A>G (p.Gln204Arg) n.703A>G n.694A>G | gnomAD v4 |
11 | g.46725958A>T | CA380264944 | F2 | c.659A>T (p.Gln220Leu) c.629A>T (p.Gln210Leu) n.439A>T c.611A>T (p.Gln204Leu) n.703A>T n.694A>T | |
11 | g.46725959G>A | CA474043639 | F2 | c.660G>A (p.Gln220=) c.630G>A (p.Gln210=) n.440G>A c.612G>A (p.Gln204=) n.704G>A n.695G>A | dbSNP |
11 | g.46725959G>C | CA380264947 | F2 | c.660G>C (p.Gln220His) c.630G>C (p.Gln210His) n.440G>C c.612G>C (p.Gln204His) n.704G>C n.695G>C | dbSNP |
11 | g.46725959G= | CA1969072074 | F2 | c.660G= (p.Gln220=) c.630G= (p.Gln210=) n.440G= c.612G= (p.Gln204=) n.704G= n.695G= | |
11 | g.46725959G>T | CA380264945 | F2 | c.660G>T (p.Gln220His) c.630G>T (p.Gln210His) n.440G>T c.612G>T (p.Gln204His) n.704G>T n.695G>T | |
11 | g.46725960T>A | CA380264948 | F2 | c.661T>A (p.Tyr221Asn) c.631T>A (p.Tyr211Asn) n.441T>A c.613T>A (p.Tyr205Asn) n.705T>A n.696T>A | |
11 | g.46725960T>C | CA380264949 | F2 | c.661T>C (p.Tyr221His) c.631T>C (p.Tyr211His) n.441T>C c.613T>C (p.Tyr205His) n.705T>C n.696T>C | |
11 | g.46725960T>G | CA380264950 | F2 | c.661T>G (p.Tyr221Asp) c.631T>G (p.Tyr211Asp) n.441T>G c.613T>G (p.Tyr205Asp) n.705T>G n.696T>G | |
11 | g.46725961A>C | CA380264952 | F2 | c.662A>C (p.Tyr221Ser) c.632A>C (p.Tyr211Ser) n.442A>C c.614A>C (p.Tyr205Ser) n.706A>C n.697A>C | |
11 | g.46725961A>G | CA380264953 | F2 | c.662A>G (p.Tyr221Cys) c.632A>G (p.Tyr211Cys) n.442A>G c.614A>G (p.Tyr205Cys) n.706A>G n.697A>G | |
11 | g.46725961A>T | CA380264954 | F2 | c.662A>T (p.Tyr221Phe) c.632A>T (p.Tyr211Phe) n.442A>T c.614A>T (p.Tyr205Phe) n.706A>T n.697A>T | |
11 | g.46725962C>A | CA380264956 | F2 | c.663C>A (p.Tyr221Ter) c.633C>A (p.Tyr211Ter) n.443C>A c.615C>A (p.Tyr205Ter) n.707C>A n.698C>A | |
11 | g.46725962C>G | CA380264957 | F2 | c.663C>G (p.Tyr221Ter) c.633C>G (p.Tyr211Ter) n.443C>G c.615C>G (p.Tyr205Ter) n.707C>G n.698C>G | |
11 | g.46725962C>T | CA474043644 | F2 | c.663C>T (p.Tyr221=) c.633C>T (p.Tyr211=) n.443C>T c.615C>T (p.Tyr205=) n.707C>T n.698C>T | |
11 | g.46725963C>A | CA380264958 | F2 | c.664C>A (p.Gln222Lys) c.634C>A (p.Gln212Lys) n.444C>A c.616C>A (p.Gln206Lys) n.708C>A n.699C>A | |
11 | g.46725963C>G | CA380264959 | F2 | c.664C>G (p.Gln222Glu) c.634C>G (p.Gln212Glu) n.444C>G c.616C>G (p.Gln206Glu) n.708C>G n.699C>G | |
11 | g.46725963C>T | CA380264960 | F2 | c.664C>T (p.Gln222Ter) c.634C>T (p.Gln212Ter) n.444C>T c.616C>T (p.Gln206Ter) n.708C>T n.699C>T | gnomAD v4 |
11 | g.46725964del | CA2574810795 | F2 | c.665del (p.Gln222ArgfsTer6) c.635del (p.Gln212ArgfsTer6) n.445del c.617del (p.Gln206ArgfsTer6) n.709del n.700del | |
11 | g.46725964A>C | CA380264963 | F2 | c.665A>C (p.Gln222Pro) c.635A>C (p.Gln212Pro) n.445A>C c.617A>C (p.Gln206Pro) n.709A>C n.700A>C | |
11 | g.46725964A>G | CA380264964 | F2 | c.665A>G (p.Gln222Arg) c.635A>G (p.Gln212Arg) n.445A>G c.617A>G (p.Gln206Arg) n.709A>G n.700A>G | |
11 | g.46725964A>T | CA380264965 | F2 | c.665A>T (p.Gln222Leu) c.635A>T (p.Gln212Leu) n.445A>T c.617A>T (p.Gln206Leu) n.709A>T n.700A>T | |
11 | g.46725965G>A | CA474043646 | F2 | c.666G>A (p.Gln222=) c.636G>A (p.Gln212=) n.446G>A c.618G>A (p.Gln206=) n.710G>A n.701G>A | |
11 | g.46725965G>C | CA380264967 | F2 | c.666G>C (p.Gln222His) c.636G>C (p.Gln212His) n.446G>C c.618G>C (p.Gln206His) n.710G>C n.701G>C | |
11 | g.46725965G>T | CA380264969 | F2 | c.666G>T (p.Gln222His) c.636G>T (p.Gln212His) n.446G>T c.618G>T (p.Gln206His) n.710G>T n.701G>T | |
11 | g.46725966G>A | CA380264971 | F2 | c.667G>A (p.Gly223Arg) c.637G>A (p.Gly213Arg) n.447G>A c.619G>A (p.Gly207Arg) n.711G>A n.702G>A | |
11 | g.46725966G>C | CA380264972 | F2 | c.667G>C (p.Gly223Arg) c.637G>C (p.Gly213Arg) n.447G>C c.619G>C (p.Gly207Arg) n.711G>C n.702G>C | |
11 | g.46725966G>T | CA380264973 | F2 | c.667G>T (p.Gly223Trp) c.637G>T (p.Gly213Trp) n.447G>T c.619G>T (p.Gly207Trp) n.711G>T n.702G>T | |
11 | g.46725967G>A | CA380264974 | F2 | c.668G>A (p.Gly223Glu) c.638G>A (p.Gly213Glu) n.448G>A c.620G>A (p.Gly207Glu) n.712G>A n.703G>A | |
11 | g.46725967G>C | CA380264975 | F2 | c.668G>C (p.Gly223Ala) c.638G>C (p.Gly213Ala) n.448G>C c.620G>C (p.Gly207Ala) n.712G>C n.703G>C | |
11 | g.46725967G>T | CA380264977 | F2 | c.668G>T (p.Gly223Val) c.638G>T (p.Gly213Val) n.448G>T c.620G>T (p.Gly207Val) n.712G>T n.703G>T | |
11 | g.46725968G>A | CA221652005 | F2 | c.669G>A (p.Gly223=) c.639G>A (p.Gly213=) n.449G>A c.621G>A (p.Gly207=) n.713G>A n.704G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725968G>C | CA474043655 | F2 | c.669G>C (p.Gly223=) c.639G>C (p.Gly213=) n.449G>C c.621G>C (p.Gly207=) n.713G>C n.704G>C | |
11 | g.46725968G= | CA1969072077 | F2 | c.669G= (p.Gly223=) c.639G= (p.Gly213=) n.449G= c.621G= (p.Gly207=) n.713G= n.704G= | |
11 | g.46725968G>T | CA474043653 | F2 | c.669G>T (p.Gly223=) c.639G>T (p.Gly213=) n.449G>T c.621G>T (p.Gly207=) n.713G>T n.704G>T | |
11 | g.46725969C>A | CA380264979 | F2 | c.670C>A (p.Arg224Ser) c.640C>A (p.Arg214Ser) n.450C>A c.622C>A (p.Arg208Ser) n.714C>A n.705C>A | gnomAD v4 |
11 | g.46725969C= | CA1969072081 | F2 | c.670C= (p.Arg224=) c.640C= (p.Arg214=) n.450C= c.622C= (p.Arg208=) n.714C= n.705C= | |
11 | g.46725969C>G | CA380264981 | F2 | c.670C>G (p.Arg224Gly) c.640C>G (p.Arg214Gly) n.450C>G c.622C>G (p.Arg208Gly) n.714C>G n.705C>G | dbSNP |
11 | g.46725969C>T | CA5967033 | F2 | c.670C>T (p.Arg224Cys) c.640C>T (p.Arg214Cys) n.450C>T c.622C>T (p.Arg208Cys) n.714C>T n.705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725970G>A | CA5967034 | F2 | c.671G>A (p.Arg224His) c.641G>A (p.Arg214His) n.451G>A c.623G>A (p.Arg208His) n.715G>A n.706G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725970G>C | CA380264983 | F2 | c.671G>C (p.Arg224Pro) c.641G>C (p.Arg214Pro) n.451G>C c.623G>C (p.Arg208Pro) n.715G>C n.706G>C | |
11 | g.46725970G= | CA1969072086 | F2 | c.671G= (p.Arg224=) c.641G= (p.Arg214=) n.451G= c.623G= (p.Arg208=) n.715G= n.706G= | |
11 | g.46725970G>T | CA380264985 | F2 | c.671G>T (p.Arg224Leu) c.641G>T (p.Arg214Leu) n.451G>T c.623G>T (p.Arg208Leu) n.715G>T n.706G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46725971C>A | CA474043659 | F2 | c.672C>A (p.Arg224=) c.642C>A (p.Arg214=) n.452C>A c.624C>A (p.Arg208=) n.716C>A n.707C>A | |
11 | g.46725971C= | CA1969072092 | F2 | c.672C= (p.Arg224=) c.642C= (p.Arg214=) n.452C= c.624C= (p.Arg208=) n.716C= n.707C= | |
11 | g.46725971C>G | CA474043660 | F2 | c.672C>G (p.Arg224=) c.642C>G (p.Arg214=) n.452C>G c.624C>G (p.Arg208=) n.716C>G n.707C>G | |
11 | g.46725971C>T | CA5967035 | F2 | c.672C>T (p.Arg224=) c.642C>T (p.Arg214=) n.452C>T c.624C>T (p.Arg208=) n.716C>T n.707C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725972C>A | CA380264989 | F2 | c.673C>A (p.Leu225Met) c.643C>A (p.Leu215Met) n.453C>A c.625C>A (p.Leu209Met) n.717C>A n.708C>A | |
11 | g.46725972C>G | CA380264988 | F2 | c.673C>G (p.Leu225Val) c.643C>G (p.Leu215Val) n.453C>G c.625C>G (p.Leu209Val) n.717C>G n.708C>G | |
11 | g.46725972C>T | CA474043663 | F2 | c.673C>T (p.Leu225=) c.643C>T (p.Leu215=) n.453C>T c.625C>T (p.Leu209=) n.717C>T n.708C>T | |
11 | g.46725973T>A | CA380264991 | F2 | c.674T>A (p.Leu225Gln) c.644T>A (p.Leu215Gln) n.454T>A c.626T>A (p.Leu209Gln) n.718T>A n.709T>A | |
11 | g.46725973T>C | CA380264993 | F2 | c.674T>C (p.Leu225Pro) c.644T>C (p.Leu215Pro) n.454T>C c.626T>C (p.Leu209Pro) n.718T>C n.709T>C | |
11 | g.46725973T>G | CA380264995 | F2 | c.674T>G (p.Leu225Arg) c.644T>G (p.Leu215Arg) n.454T>G c.626T>G (p.Leu209Arg) n.718T>G n.709T>G | |
11 | g.46725974G>A | CA474043664 | F2 | c.675G>A (p.Leu225=) c.645G>A (p.Leu215=) n.455G>A c.627G>A (p.Leu209=) n.719G>A n.710G>A | |
11 | g.46725974G>C | CA5967036 | F2 | c.675G>C (p.Leu225=) c.645G>C (p.Leu215=) n.455G>C c.627G>C (p.Leu209=) n.719G>C n.710G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46725974G= | CA1969072094 | F2 | c.675G= (p.Leu225=) c.645G= (p.Leu215=) n.455G= c.627G= (p.Leu209=) n.719G= n.710G= | |
11 | g.46725974G>T | CA474043668 | F2 | c.675G>T (p.Leu225=) c.645G>T (p.Leu215=) n.455G>T c.627G>T (p.Leu209=) n.719G>T n.710G>T | |
11 | g.46725975G>A | CA380264996 | F2 | c.676G>A (p.Ala226Thr) c.646G>A (p.Ala216Thr) n.456G>A c.628G>A (p.Ala210Thr) n.720G>A n.711G>A | dbSNP |
11 | g.46725975G>C | CA380264997 | F2 | c.676G>C (p.Ala226Pro) c.646G>C (p.Ala216Pro) n.456G>C c.628G>C (p.Ala210Pro) n.720G>C n.711G>C | |
11 | g.46725975G= | CA1969072100 | F2 | c.676G= (p.Ala226=) c.646G= (p.Ala216=) n.456G= c.628G= (p.Ala210=) n.720G= n.711G= | |
11 | g.46725975G>T | CA380264998 | F2 | c.676G>T (p.Ala226Ser) c.646G>T (p.Ala216Ser) n.456G>T c.628G>T (p.Ala210Ser) n.720G>T n.711G>T | |
11 | g.46725976C>A | CA380264999 | F2 | c.677C>A (p.Ala226Glu) c.647C>A (p.Ala216Glu) n.457C>A c.629C>A (p.Ala210Glu) n.721C>A n.712C>A | |
11 | g.46725976C= | CA1969072103 | F2 | c.677C= (p.Ala226=) c.647C= (p.Ala216=) n.457C= c.629C= (p.Ala210=) n.721C= n.712C= | |
11 | g.46725976C>G | CA380265000 | F2 | c.677C>G (p.Ala226Gly) c.647C>G (p.Ala216Gly) n.457C>G c.629C>G (p.Ala210Gly) n.721C>G n.712C>G | |
11 | g.46725976C>T | CA380265001 | F2 | c.677C>T (p.Ala226Val) c.647C>T (p.Ala216Val) n.457C>T c.629C>T (p.Ala210Val) n.721C>T n.712C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.46725977G>A | CA5967037 | F2 | c.678G>A (p.Ala226=) c.648G>A (p.Ala216=) n.458G>A c.630G>A (p.Ala210=) n.722G>A n.713G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725977G>C | CA474043674 | F2 | c.678G>C (p.Ala226=) c.648G>C (p.Ala216=) n.458G>C c.630G>C (p.Ala210=) n.722G>C n.713G>C | |
11 | g.46725977G= | CA1969072106 | F2 | c.678G= (p.Ala226=) c.648G= (p.Ala216=) n.458G= c.630G= (p.Ala210=) n.722G= n.713G= | |
11 | g.46725977G>T | CA474043673 | F2 | c.678G>T (p.Ala226=) c.648G>T (p.Ala216=) n.458G>T c.630G>T (p.Ala210=) n.722G>T n.713G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46725978G>A | CA380265004 | F2 | c.679G>A (p.Val227Met) c.649G>A (p.Val217Met) n.459G>A c.631G>A (p.Val211Met) n.723G>A n.714G>A | gnomAD v4 |
11 | g.46725978G>C | CA380265006 | F2 | c.679G>C (p.Val227Leu) c.649G>C (p.Val217Leu) n.459G>C c.631G>C (p.Val211Leu) n.723G>C n.714G>C | |
11 | g.46725978G>T | CA380265007 | F2 | c.679G>T (p.Val227Leu) c.649G>T (p.Val217Leu) n.459G>T c.631G>T (p.Val211Leu) n.723G>T n.714G>T | |
11 | g.46725979T>A | CA380265012 | F2 | c.680T>A (p.Val227Glu) c.650T>A (p.Val217Glu) n.460T>A c.632T>A (p.Val211Glu) n.724T>A n.715T>A | gnomAD v4 |
11 | g.46725979T>C | CA5967038 | F2 | c.680T>C (p.Val227Ala) c.650T>C (p.Val217Ala) n.460T>C c.632T>C (p.Val211Ala) n.724T>C n.715T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46725979T>G | CA380265009 | F2 | c.680T>G (p.Val227Gly) c.650T>G (p.Val217Gly) n.460T>G c.632T>G (p.Val211Gly) n.724T>G n.715T>G | |
11 | g.46725979T= | CA1969072109 | F2 | c.680T= (p.Val227=) c.650T= (p.Val217=) n.460T= c.632T= (p.Val211=) n.724T= n.715T= | |
11 | g.46725980G>A | CA474043679 | F2 | c.681G>A (p.Val227=) c.651G>A (p.Val217=) n.461G>A c.633G>A (p.Val211=) n.725G>A n.716G>A | |
11 | g.46725980G>C | CA474043680 | F2 | c.681G>C (p.Val227=) c.651G>C (p.Val217=) n.461G>C c.633G>C (p.Val211=) n.725G>C n.716G>C | |
11 | g.46725980G= | CA1969072112 | F2 | c.681G= (p.Val227=) c.651G= (p.Val217=) n.461G= c.633G= (p.Val211=) n.725G= n.716G= | |
11 | g.46725980G>T | CA5967039 | F2 | c.681G>T (p.Val227=) c.651G>T (p.Val217=) n.461G>T c.633G>T (p.Val211=) n.725G>T n.716G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46725981A>C | CA380265014 | F2 | c.682A>C (p.Thr228Pro) c.652A>C (p.Thr218Pro) n.462A>C c.634A>C (p.Thr212Pro) n.726A>C n.717A>C | |
11 | g.46725981A>G | CA380265017 | F2 | c.682A>G (p.Thr228Ala) c.652A>G (p.Thr218Ala) n.462A>G c.634A>G (p.Thr212Ala) n.726A>G n.717A>G | |
11 | g.46725981A>T | CA380265016 | F2 | c.682A>T (p.Thr228Ser) c.652A>T (p.Thr218Ser) n.462A>T c.634A>T (p.Thr212Ser) n.726A>T n.717A>T | |
11 | g.46725982C>A | CA380265019 | F2 | c.683C>A (p.Thr228Asn) c.653C>A (p.Thr218Asn) n.463C>A c.635C>A (p.Thr212Asn) n.727C>A n.718C>A | |
11 | g.46725982C= | CA1969072116 | F2 | c.683C= (p.Thr228=) c.653C= (p.Thr218=) n.463C= c.635C= (p.Thr212=) n.727C= n.718C= | |
11 | g.46725982C>G | CA380265022 | F2 | c.683C>G (p.Thr228Ser) c.653C>G (p.Thr218Ser) n.463C>G c.635C>G (p.Thr212Ser) n.727C>G n.718C>G | gnomAD v4 |
11 | g.46725982C>T | CA380265020 | F2 | c.683C>T (p.Thr228Ile) c.653C>T (p.Thr218Ile) n.463C>T c.635C>T (p.Thr212Ile) n.727C>T n.718C>T | dbSNP gnomAD v2 |
11 | g.46725983C>A | CA474043689 | F2 | c.684C>A (p.Thr228=) c.654C>A (p.Thr218=) n.464C>A c.636C>A (p.Thr212=) n.728C>A n.719C>A | |
11 | g.46725983C>G | CA474043690 | F2 | c.684C>G (p.Thr228=) c.654C>G (p.Thr218=) n.464C>G c.636C>G (p.Thr212=) n.728C>G n.719C>G | |
11 | g.46725983C>T | CA474043692 | F2 | c.684C>T (p.Thr228=) c.654C>T (p.Thr218=) n.464C>T c.636C>T (p.Thr212=) n.728C>T n.719C>T | COSMIC |
11 | g.46725984A>C | CA380265023 | F2 | c.685A>C (p.Thr229Pro) c.655A>C (p.Thr219Pro) n.465A>C c.637A>C (p.Thr213Pro) n.729A>C n.720A>C | |
11 | g.46725984A>G | CA380265024 | F2 | c.685A>G (p.Thr229Ala) c.655A>G (p.Thr219Ala) n.465A>G c.637A>G (p.Thr213Ala) n.729A>G n.720A>G | |
11 | g.46725984A>T | CA380265026 | F2 | c.685A>T (p.Thr229Ser) c.655A>T (p.Thr219Ser) n.465A>T c.637A>T (p.Thr213Ser) n.729A>T n.720A>T | |
11 | g.46725985C>A | CA380265027 | F2 | c.686C>A (p.Thr229Lys) c.656C>A (p.Thr219Lys) n.466C>A c.638C>A (p.Thr213Lys) n.730C>A n.721C>A | |
11 | g.46725985C>G | CA380265029 | F2 | c.686C>G (p.Thr229Arg) c.656C>G (p.Thr219Arg) n.466C>G c.638C>G (p.Thr213Arg) n.730C>G n.721C>G | |
11 | g.46725985C>T | CA380265031 | F2 | c.686C>T (p.Thr229Ile) c.656C>T (p.Thr219Ile) n.466C>T c.638C>T (p.Thr213Ile) n.730C>T n.721C>T | |
11 | g.46725986A>C | CA474043696 | F2 | c.687A>C (p.Thr229=) c.657A>C (p.Thr219=) n.467A>C c.639A>C (p.Thr213=) n.731A>C n.722A>C | |
11 | g.46725986A>G | CA474043697 | F2 | c.687A>G (p.Thr229=) c.657A>G (p.Thr219=) n.467A>G c.639A>G (p.Thr213=) n.731A>G n.722A>G | |
11 | g.46725986A>T | CA474043698 | F2 | c.687A>T (p.Thr229=) c.657A>T (p.Thr219=) n.467A>T c.639A>T (p.Thr213=) n.731A>T n.722A>T | |
11 | g.46725987C>A | CA380265033 | F2 | c.688C>A (p.His230Asn) c.658C>A (p.His220Asn) n.468C>A c.640C>A (p.His214Asn) n.732C>A n.723C>A | |
11 | g.46725987C>G | CA380265034 | F2 | c.688C>G (p.His230Asp) c.658C>G (p.His220Asp) n.468C>G c.640C>G (p.His214Asp) n.732C>G n.723C>G | |
11 | g.46725987C>T | CA380265037 | F2 | c.688C>T (p.His230Tyr) c.658C>T (p.His220Tyr) n.468C>T c.640C>T (p.His214Tyr) n.732C>T n.723C>T | |
11 | g.46725988A>C | CA380265042 | F2 | c.689A>C (p.His230Pro) c.659A>C (p.His220Pro) n.469A>C c.641A>C (p.His214Pro) n.733A>C n.724A>C | |
11 | g.46725988A>G | CA380265041 | F2 | c.689A>G (p.His230Arg) c.659A>G (p.His220Arg) n.469A>G c.641A>G (p.His214Arg) n.733A>G n.724A>G | ClinVar gnomAD v4 |
11 | g.46725988A>T | CA380265038 | F2 | c.689A>T (p.His230Leu) c.659A>T (p.His220Leu) n.469A>T c.641A>T (p.His214Leu) n.733A>T n.724A>T | |
11 | g.46725988_46725990del | CA2613334506 | F2 | c.689_691del (p.His230_Gly231delinsArg) c.659_661del (p.His220_Gly221delinsArg) n.469_471del c.641_643del (p.His214_Gly215delinsArg) n.733_735del n.724_726del | gnomAD v4 |
11 | g.46725989T>A | CA380265045 | F2 | c.690T>A (p.His230Gln) c.660T>A (p.His220Gln) n.470T>A c.642T>A (p.His214Gln) n.734T>A n.725T>A | |
11 | g.46725989T>C | CA474043703 | F2 | c.690T>C (p.His230=) c.660T>C (p.His220=) n.470T>C c.642T>C (p.His214=) n.734T>C n.725T>C | |
11 | g.46725989T>G | CA380265046 | F2 | c.690T>G (p.His230Gln) c.660T>G (p.His220Gln) n.470T>G c.642T>G (p.His214Gln) n.734T>G n.725T>G | |
11 | g.46725990G>A | CA380265050 | F2 | c.691G>A (p.Gly231Arg) c.661G>A (p.Gly221Arg) n.471G>A c.643G>A (p.Gly215Arg) n.735G>A n.726G>A | gnomAD v4 |
11 | g.46725990G>C | CA380265051 | F2 | c.691G>C (p.Gly231Arg) c.661G>C (p.Gly221Arg) n.471G>C c.643G>C (p.Gly215Arg) n.735G>C n.726G>C | |
11 | g.46725990G>T | CA380265053 | F2 | c.691G>T (p.Gly231Trp) c.661G>T (p.Gly221Trp) n.471G>T c.643G>T (p.Gly215Trp) n.735G>T n.726G>T | |
11 | g.46725991G>A | CA380265055 | F2 | c.692G>A (p.Gly231Glu) c.662G>A (p.Gly221Glu) n.472G>A c.644G>A (p.Gly215Glu) n.736G>A n.727G>A | gnomAD v4 COSMIC |
11 | g.46725991G>C | CA380265056 | F2 | c.692G>C (p.Gly231Ala) c.662G>C (p.Gly221Ala) n.472G>C c.644G>C (p.Gly215Ala) n.736G>C n.727G>C | gnomAD v4 |
11 | g.46725991G>T | CA380265057 | F2 | c.692G>T (p.Gly231Val) c.662G>T (p.Gly221Val) n.472G>T c.644G>T (p.Gly215Val) n.736G>T n.727G>T | |
11 | g.46725992G>A | CA474043708 | F2 | c.693G>A (p.Gly231=) c.663G>A (p.Gly221=) n.473G>A c.645G>A (p.Gly215=) n.737G>A n.728G>A | gnomAD v4 |
11 | g.46725992G>C | CA474043709 | F2 | c.693G>C (p.Gly231=) c.663G>C (p.Gly221=) n.473G>C c.645G>C (p.Gly215=) n.737G>C n.728G>C | |
11 | g.46725992G= | CA1969072121 | F2 | c.693G= (p.Gly231=) c.663G= (p.Gly221=) n.473G= c.645G= (p.Gly215=) n.737G= n.728G= | |
11 | g.46725992G>T | CA474043710 | F2 | c.693G>T (p.Gly231=) c.663G>T (p.Gly221=) n.473G>T c.645G>T (p.Gly215=) n.737G>T n.728G>T | dbSNP gnomAD v4 |
11 | g.46725993C>A | CA380265058 | F2 | c.694C>A (p.Leu232Ile) c.664C>A (p.Leu222Ile) n.474C>A c.646C>A (p.Leu216Ile) n.738C>A n.729C>A | |
11 | g.46725993C= | CA1969072124 | F2 | c.694C= (p.Leu232=) c.664C= (p.Leu222=) n.474C= c.646C= (p.Leu216=) n.738C= n.729C= | |
11 | g.46725993C>G | CA380265060 | F2 | c.694C>G (p.Leu232Val) c.664C>G (p.Leu222Val) n.474C>G c.646C>G (p.Leu216Val) n.738C>G n.729C>G | |
11 | g.46725993C>T | CA380265061 | F2 | c.694C>T (p.Leu232Phe) c.664C>T (p.Leu222Phe) n.474C>T c.646C>T (p.Leu216Phe) n.738C>T n.729C>T | dbSNP gnomAD v4 |
11 | g.46725994T>A | CA380265066 | F2 | c.695T>A (p.Leu232His) c.665T>A (p.Leu222His) n.475T>A c.647T>A (p.Leu216His) n.739T>A n.730T>A | ClinVar gnomAD v4 |
11 | g.46725994T>C | CA380265068 | F2 | c.695T>C (p.Leu232Pro) c.665T>C (p.Leu222Pro) n.475T>C c.647T>C (p.Leu216Pro) n.739T>C n.730T>C | gnomAD v4 |
11 | g.46725994T>G | CA380265063 | F2 | c.695T>G (p.Leu232Arg) c.665T>G (p.Leu222Arg) n.475T>G c.647T>G (p.Leu216Arg) n.739T>G n.730T>G | |
11 | g.46725995C>A | CA474043712 | F2 | c.696C>A (p.Leu232=) c.666C>A (p.Leu222=) n.476C>A c.648C>A (p.Leu216=) n.740C>A n.731C>A | |
11 | g.46725995C>G | CA474043713 | F2 | c.696C>G (p.Leu232=) c.666C>G (p.Leu222=) n.476C>G c.648C>G (p.Leu216=) n.740C>G n.731C>G | |
11 | g.46725995C>T | CA474043714 | F2 | c.696C>T (p.Leu232=) c.666C>T (p.Leu222=) n.476C>T c.648C>T (p.Leu216=) n.740C>T n.731C>T | ClinVar gnomAD v4 |
11 | g.46725998del | CA2613334515 | F2 | c.699del (p.Cys234AlafsTer12) c.669del (p.Cys224AlafsTer12) n.479del c.651del (p.Cys218AlafsTer12) n.743del n.734del | gnomAD v4 |
11 | g.46725995_46725996insA | CA2613334519 | F2 | c.696_697insA (p.Pro233ThrfsTer?) c.666_667insA (p.Pro223ThrfsTer?) n.476_477insA c.648_649insA (p.Pro217ThrfsTer?) n.740_741insA n.731_732insA | gnomAD v4 |
11 | g.46725996C>A | CA5967040 | F2 | c.697C>A (p.Pro233Thr) c.667C>A (p.Pro223Thr) n.477C>A c.649C>A (p.Pro217Thr) n.741C>A n.732C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46725996C= | CA1969072127 | F2 | c.697C= (p.Pro233=) c.667C= (p.Pro223=) n.477C= c.649C= (p.Pro217=) n.741C= n.732C= | |
11 | g.46725996C>G | CA380265071 | F2 | c.697C>G (p.Pro233Ala) c.667C>G (p.Pro223Ala) n.477C>G c.649C>G (p.Pro217Ala) n.741C>G n.732C>G | |
11 | g.46725996C>T | CA380265073 | F2 | c.697C>T (p.Pro233Ser) c.667C>T (p.Pro223Ser) n.477C>T c.649C>T (p.Pro217Ser) n.741C>T n.732C>T | gnomAD v4 |
11 | g.46725997C>A | CA380265075 | F2 | c.698C>A (p.Pro233His) c.668C>A (p.Pro223His) n.478C>A c.650C>A (p.Pro217His) n.742C>A n.733C>A | |
11 | g.46725997C= | CA1969072130 | F2 | c.698C= (p.Pro233=) c.668C= (p.Pro223=) n.478C= c.650C= (p.Pro217=) n.742C= n.733C= | |
11 | g.46725997C>G | CA380265078 | F2 | c.698C>G (p.Pro233Arg) c.668C>G (p.Pro223Arg) n.478C>G c.650C>G (p.Pro217Arg) n.742C>G n.733C>G | |
11 | g.46725997C>T | CA380265080 | F2 | c.698C>T (p.Pro233Leu) c.668C>T (p.Pro223Leu) n.478C>T c.650C>T (p.Pro217Leu) n.742C>T n.733C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.46725998C>A | CA474043715 | F2 | c.699C>A (p.Pro233=) c.669C>A (p.Pro223=) n.479C>A c.651C>A (p.Pro217=) n.743C>A n.734C>A | |
11 | g.46725998C= | CA1969072133 | F2 | c.699C= (p.Pro233=) c.669C= (p.Pro223=) n.479C= c.651C= (p.Pro217=) n.743C= n.734C= | |
11 | g.46725998C>G | CA474043717 | F2 | c.699C>G (p.Pro233=) c.669C>G (p.Pro223=) n.479C>G c.651C>G (p.Pro217=) n.743C>G n.734C>G | |
11 | g.46725998C>T | CA474043716 | F2 | c.699C>T (p.Pro233=) c.669C>T (p.Pro223=) n.479C>T c.651C>T (p.Pro217=) n.743C>T n.734C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.46725999T>A | CA380265082 | F2 | c.700T>A (p.Cys234Ser) c.670T>A (p.Cys224Ser) n.480T>A c.652T>A (p.Cys218Ser) n.744T>A n.735T>A | |
11 | g.46725999T>C | CA380265085 | F2 | c.700T>C (p.Cys234Arg) c.670T>C (p.Cys224Arg) n.480T>C c.652T>C (p.Cys218Arg) n.744T>C n.735T>C | |
11 | g.46725999T>G | CA380265086 | F2 | c.700T>G (p.Cys234Gly) c.670T>G (p.Cys224Gly) n.480T>G c.652T>G (p.Cys218Gly) n.744T>G n.735T>G | |
11 | g.46726000G>A | CA380265089 | F2 | c.701G>A (p.Cys234Tyr) c.671G>A (p.Cys224Tyr) n.481G>A c.653G>A (p.Cys218Tyr) n.745G>A n.736G>A | |
11 | g.46726000G>C | CA380265090 | F2 | c.701G>C (p.Cys234Ser) c.671G>C (p.Cys224Ser) n.481G>C c.653G>C (p.Cys218Ser) n.745G>C n.736G>C | |
11 | g.46726000G>T | CA380265091 | F2 | c.701G>T (p.Cys234Phe) c.671G>T (p.Cys224Phe) n.481G>T c.653G>T (p.Cys218Phe) n.745G>T n.736G>T | |
11 | g.46726001C>A | CA380265096 | F2 | c.702C>A (p.Cys234Ter) c.672C>A (p.Cys224Ter) n.482C>A c.654C>A (p.Cys218Ter) n.746C>A n.737C>A | |
11 | g.46726001C>G | CA380265094 | F2 | c.702C>G (p.Cys234Trp) c.672C>G (p.Cys224Trp) n.482C>G c.654C>G (p.Cys218Trp) n.746C>G n.737C>G | |
11 | g.46726001C>T | CA474043720 | F2 | c.702C>T (p.Cys234=) c.672C>T (p.Cys224=) n.482C>T c.654C>T (p.Cys218=) n.746C>T n.737C>T | |
11 | g.46726002C>A | CA380265099 | F2 | c.703C>A (p.Leu235Met) c.673C>A (p.Leu225Met) n.483C>A c.655C>A (p.Leu219Met) n.747C>A n.738C>A | |
11 | g.46726002C= | CA1969072137 | F2 | c.703C= (p.Leu235=) c.673C= (p.Leu225=) n.483C= c.655C= (p.Leu219=) n.747C= n.738C= | |
11 | g.46726002C>G | CA380265101 | F2 | c.703C>G (p.Leu235Val) c.673C>G (p.Leu225Val) n.483C>G c.655C>G (p.Leu219Val) n.747C>G n.738C>G | |
11 | g.46726002C>T | CA474043721 | F2 | c.703C>T (p.Leu235=) c.673C>T (p.Leu225=) n.483C>T c.655C>T (p.Leu219=) n.747C>T n.738C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46726003T>A | CA380265104 | F2 | c.704T>A (p.Leu235Gln) c.674T>A (p.Leu225Gln) n.484T>A c.656T>A (p.Leu219Gln) n.748T>A n.739T>A | |
11 | g.46726003T>C | CA380265107 | F2 | c.704T>C (p.Leu235Pro) c.674T>C (p.Leu225Pro) n.484T>C c.656T>C (p.Leu219Pro) n.748T>C n.739T>C | |
11 | g.46726003T>G | CA380265109 | F2 | c.704T>G (p.Leu235Arg) c.674T>G (p.Leu225Arg) n.484T>G c.656T>G (p.Leu219Arg) n.748T>G n.739T>G | |
11 | g.46726004G>A | CA474043723 | F2 | c.705G>A (p.Leu235=) c.675G>A (p.Leu225=) n.485G>A c.657G>A (p.Leu219=) n.749G>A n.740G>A | |
11 | g.46726004G>C | CA474043724 | F2 | c.705G>C (p.Leu235=) c.675G>C (p.Leu225=) n.485G>C c.657G>C (p.Leu219=) n.749G>C n.740G>C | |
11 | g.46726004G>T | CA474043725 | F2 | c.705G>T (p.Leu235=) c.675G>T (p.Leu225=) n.485G>T c.657G>T (p.Leu219=) n.749G>T n.740G>T | |
11 | g.46726005G>A | CA5967041 | F2 | c.706G>A (p.Ala236Thr) c.676G>A (p.Ala226Thr) n.486G>A c.658G>A (p.Ala220Thr) n.750G>A n.741G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726005G>C | CA380265112 | F2 | c.706G>C (p.Ala236Pro) c.676G>C (p.Ala226Pro) n.486G>C c.658G>C (p.Ala220Pro) n.750G>C n.741G>C | |
11 | g.46726005G= | CA1969072142 | F2 | c.706G= (p.Ala236=) c.676G= (p.Ala226=) n.486G= c.658G= (p.Ala220=) n.750G= n.741G= | |
11 | g.46726005G>T | CA380265115 | F2 | c.706G>T (p.Ala236Ser) c.676G>T (p.Ala226Ser) n.486G>T c.658G>T (p.Ala220Ser) n.750G>T n.741G>T | gnomAD v4 |
11 | g.46726006C>A | CA380265116 | F2 | c.707C>A (p.Ala236Asp) c.677C>A (p.Ala226Asp) n.487C>A c.659C>A (p.Ala220Asp) n.751C>A n.742C>A | |
11 | g.46726006C>G | CA380265118 | F2 | c.707C>G (p.Ala236Gly) c.677C>G (p.Ala226Gly) n.487C>G c.659C>G (p.Ala220Gly) n.751C>G n.742C>G | |
11 | g.46726006C>T | CA380265119 | F2 | c.707C>T (p.Ala236Val) c.677C>T (p.Ala226Val) n.487C>T c.659C>T (p.Ala220Val) n.751C>T n.742C>T | |
11 | g.46726007C>A | CA474043726 | F2 | c.708C>A (p.Ala236=) c.678C>A (p.Ala226=) n.488C>A c.660C>A (p.Ala220=) n.752C>A n.743C>A | |
11 | g.46726007C= | CA1969072146 | F2 | c.708C= (p.Ala236=) c.678C= (p.Ala226=) n.488C= c.660C= (p.Ala220=) n.752C= n.743C= | |
11 | g.46726007C>G | CA474043727 | F2 | c.708C>G (p.Ala236=) c.678C>G (p.Ala226=) n.488C>G c.660C>G (p.Ala220=) n.752C>G n.743C>G | |
11 | g.46726007C>T | CA221652038 | F2 | c.708C>T (p.Ala236=) c.678C>T (p.Ala226=) n.488C>T c.660C>T (p.Ala220=) n.752C>T n.743C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726008T>A | CA380265121 | F2 | c.709T>A (p.Trp237Arg) c.679T>A (p.Trp227Arg) n.489T>A c.661T>A (p.Trp221Arg) n.753T>A n.744T>A | |
11 | g.46726008T>C | CA380265122 | F2 | c.709T>C (p.Trp237Arg) c.679T>C (p.Trp227Arg) n.489T>C c.661T>C (p.Trp221Arg) n.753T>C n.744T>C | |
11 | g.46726008T>G | CA380265123 | F2 | c.709T>G (p.Trp237Gly) c.679T>G (p.Trp227Gly) n.489T>G c.661T>G (p.Trp221Gly) n.753T>G n.744T>G | |
11 | g.46726009G>A | CA380265127 | F2 | c.710G>A (p.Trp237Ter) c.680G>A (p.Trp227Ter) n.490G>A c.662G>A (p.Trp221Ter) n.754G>A n.745G>A | |
11 | g.46726009G>C | CA380265129 | F2 | c.710G>C (p.Trp237Ser) c.680G>C (p.Trp227Ser) n.490G>C c.662G>C (p.Trp221Ser) n.754G>C n.745G>C | |
11 | g.46726009G>T | CA380265125 | F2 | c.710G>T (p.Trp237Leu) c.680G>T (p.Trp227Leu) n.490G>T c.662G>T (p.Trp221Leu) n.754G>T n.745G>T | |
11 | g.46726010G>A | CA380265135 | F2 | c.711G>A (p.Trp237Ter) c.681G>A (p.Trp227Ter) n.491G>A c.663G>A (p.Trp221Ter) n.755G>A n.746G>A | gnomAD v4 |
11 | g.46726010G>C | CA380265131 | F2 | c.711G>C (p.Trp237Cys) c.681G>C (p.Trp227Cys) n.491G>C c.663G>C (p.Trp221Cys) n.755G>C n.746G>C | |
11 | g.46726010G>T | CA380265132 | F2 | c.711G>T (p.Trp237Cys) c.681G>T (p.Trp227Cys) n.491G>T c.663G>T (p.Trp221Cys) n.755G>T n.746G>T | |
11 | g.46726011G>A | CA380265137 | F2 | c.712G>A (p.Ala238Thr) c.682G>A (p.Ala228Thr) n.492G>A c.664G>A (p.Ala222Thr) n.756G>A n.747G>A | |
11 | g.46726011G>C | CA380265139 | F2 | c.712G>C (p.Ala238Pro) c.682G>C (p.Ala228Pro) n.492G>C c.664G>C (p.Ala222Pro) n.756G>C n.747G>C | |
11 | g.46726011G= | CA1969072149 | F2 | c.712G= (p.Ala238=) c.682G= (p.Ala228=) n.492G= c.664G= (p.Ala222=) n.756G= n.747G= | |
11 | g.46726011G>T | CA380265140 | F2 | c.712G>T (p.Ala238Ser) c.682G>T (p.Ala228Ser) n.492G>T c.664G>T (p.Ala222Ser) n.756G>T n.747G>T | |
11 | g.46726012C>A | CA380265146 | F2 | c.713C>A (p.Ala238Asp) c.683C>A (p.Ala228Asp) n.493C>A c.665C>A (p.Ala222Asp) n.757C>A n.748C>A | |
11 | g.46726012C>G | CA380265144 | F2 | c.713C>G (p.Ala238Gly) c.683C>G (p.Ala228Gly) n.493C>G c.665C>G (p.Ala222Gly) n.757C>G n.748C>G | |
11 | g.46726012C>T | CA380265142 | F2 | c.713C>T (p.Ala238Val) c.683C>T (p.Ala228Val) n.493C>T c.665C>T (p.Ala222Val) n.757C>T n.748C>T | |
11 | g.46726013dup | CA599372386 | F2 | c.714dup (p.Ser239GlnfsTer?) c.684dup (p.Ser229GlnfsTer?) n.494dup c.666dup (p.Ser223GlnfsTer?) n.758dup n.749dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726013C>A | CA474043732 | F2 | c.714C>A (p.Ala238=) c.684C>A (p.Ala228=) n.494C>A c.666C>A (p.Ala222=) n.758C>A n.749C>A | |
11 | g.46726013C>G | CA474043734 | F2 | c.714C>G (p.Ala238=) c.684C>G (p.Ala228=) n.494C>G c.666C>G (p.Ala222=) n.758C>G n.749C>G | |
11 | g.46726013C>T | CA474043735 | F2 | c.714C>T (p.Ala238=) c.684C>T (p.Ala228=) n.494C>T c.666C>T (p.Ala222=) n.758C>T n.749C>T | |
11 | g.46726014A= | CA1969072154 | F2 | c.715A= (p.Ser239=) c.685A= (p.Ser229=) n.495A= c.667A= (p.Ser223=) n.759A= n.750A= | |
11 | g.46726014A>C | CA380265147 | F2 | c.715A>C (p.Ser239Arg) c.685A>C (p.Ser229Arg) n.495A>C c.667A>C (p.Ser223Arg) n.759A>C n.750A>C | |
11 | g.46726014A>G | CA5967042 | F2 | c.715A>G (p.Ser239Gly) c.685A>G (p.Ser229Gly) n.495A>G c.667A>G (p.Ser223Gly) n.759A>G n.750A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726014A>T | CA380265149 | F2 | c.715A>T (p.Ser239Cys) c.685A>T (p.Ser229Cys) n.495A>T c.667A>T (p.Ser223Cys) n.759A>T n.750A>T | |
11 | g.46726015G>A | CA5967043 | F2 | c.716G>A (p.Ser239Asn) c.686G>A (p.Ser229Asn) n.496G>A c.668G>A (p.Ser223Asn) n.760G>A n.751G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726015G>C | CA380265152 | F2 | c.716G>C (p.Ser239Thr) c.686G>C (p.Ser229Thr) n.496G>C c.668G>C (p.Ser223Thr) n.760G>C n.751G>C | |
11 | g.46726015G= | CA1969072159 | F2 | c.716G= (p.Ser239=) c.686G= (p.Ser229=) n.496G= c.668G= (p.Ser223=) n.760G= n.751G= | |
11 | g.46726015G>T | CA380265155 | F2 | c.716G>T (p.Ser239Ile) c.686G>T (p.Ser229Ile) n.496G>T c.668G>T (p.Ser223Ile) n.760G>T n.751G>T | |
11 | g.46726016C>A | CA380265158 | F2 | c.717C>A (p.Ser239Arg) c.687C>A (p.Ser229Arg) n.497C>A c.669C>A (p.Ser223Arg) n.761C>A n.752C>A | |
11 | g.46726016C= | CA1969072163 | F2 | c.717C= (p.Ser239=) c.687C= (p.Ser229=) n.497C= c.669C= (p.Ser223=) n.761C= n.752C= | |
11 | g.46726016C>G | CA380265160 | F2 | c.717C>G (p.Ser239Arg) c.687C>G (p.Ser229Arg) n.497C>G c.669C>G (p.Ser223Arg) n.761C>G n.752C>G | |
11 | g.46726016C>T | CA5967044 | F2 | c.717C>T (p.Ser239=) c.687C>T (p.Ser229=) n.497C>T c.669C>T (p.Ser223=) n.761C>T n.752C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726017G>A | CA5967045 | F2 | c.718G>A (p.Ala240Thr) c.688G>A (p.Ala230Thr) n.498G>A c.670G>A (p.Ala224Thr) n.762G>A n.753G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726017G>C | CA380265163 | F2 | c.718G>C (p.Ala240Pro) c.688G>C (p.Ala230Pro) n.498G>C c.670G>C (p.Ala224Pro) n.762G>C n.753G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.46726017G= | CA1969072166 | F2 | c.718G= (p.Ala240=) c.688G= (p.Ala230=) n.498G= c.670G= (p.Ala224=) n.762G= n.753G= | |
11 | g.46726017G>T | CA380265166 | F2 | c.718G>T (p.Ala240Ser) c.688G>T (p.Ala230Ser) n.498G>T c.670G>T (p.Ala224Ser) n.762G>T n.753G>T | dbSNP COSMIC |