Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.46725861_46725877delinsCAGGATCAAGTCACTGT | CA1969071891 | F2 | c.562_578delinsCAGGATCAAGTCACTGT (p.Gln188=) c.532_548delinsCAGGATCAAGTCACTGT (p.Gln178=) n.342_358delinsCAGGATCAAGTCACTGT c.514_530delinsCAGGATCAAGTCACTGT (p.Gln172=) n.606_622delinsCAGGATCAAGTCACTGT n.597_613delinsCAGGATCAAGTCACTGT | |
11 | g.46725864_46725879del | CA599046066 | F2 | c.565_580del (p.Asp189ArgfsTer2) c.535_550del (p.Asp179ArgfsTer2) n.345_360del c.517_532del (p.Asp173ArgfsTer2) n.609_624del n.600_615del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46725874C>A | CA380264682 | F2 | c.575C>A (p.Thr192Asn) c.545C>A (p.Thr182Asn) n.355C>A c.527C>A (p.Thr176Asn) n.619C>A n.610C>A | |
11 | g.46725874C>G | CA380264683 | F2 | c.575C>G (p.Thr192Ser) c.545C>G (p.Thr182Ser) n.355C>G c.527C>G (p.Thr176Ser) n.619C>G n.610C>G | |
11 | g.46725874C>T | CA380264684 | F2 | c.575C>T (p.Thr192Ile) c.545C>T (p.Thr182Ile) n.355C>T c.527C>T (p.Thr176Ile) n.619C>T n.610C>T | |
11 | g.46725875T>A | CA474043304 | F2 | c.576T>A (p.Thr192=) c.546T>A (p.Thr182=) n.356T>A c.528T>A (p.Thr176=) n.620T>A n.611T>A | |
11 | g.46725875T>C | CA5967013 | F2 | c.576T>C (p.Thr192=) c.546T>C (p.Thr182=) n.356T>C c.528T>C (p.Thr176=) n.620T>C n.611T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46725875T>G | CA474043303 | F2 | c.576T>G (p.Thr192=) c.546T>G (p.Thr182=) n.356T>G c.528T>G (p.Thr176=) n.620T>G n.611T>G | |
11 | g.46725875T= | CA1969071914 | F2 | c.576T= (p.Thr192=) c.546T= (p.Thr182=) n.356T= c.528T= (p.Thr176=) n.620T= n.611T= | |
11 | g.46725876G>A | CA380264685 | F2 | c.577G>A (p.Val193Ile) c.547G>A (p.Val183Ile) n.357G>A c.529G>A (p.Val177Ile) n.621G>A n.612G>A | |
11 | g.46725876G>C | CA380264686 | F2 | c.577G>C (p.Val193Leu) c.547G>C (p.Val183Leu) n.357G>C c.529G>C (p.Val177Leu) n.621G>C n.612G>C | |
11 | g.46725876G>T | CA380264687 | F2 | c.577G>T (p.Val193Leu) c.547G>T (p.Val183Leu) n.357G>T c.529G>T (p.Val177Leu) n.621G>T n.612G>T | |
11 | g.46725877T>A | CA380264689 | F2 | c.578T>A (p.Val193Glu) c.548T>A (p.Val183Glu) n.358T>A c.530T>A (p.Val177Glu) n.622T>A n.613T>A | |
11 | g.46725877T>C | CA5967014 | F2 | c.578T>C (p.Val193Ala) c.548T>C (p.Val183Ala) n.358T>C c.530T>C (p.Val177Ala) n.622T>C n.613T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725877T>G | CA380264688 | F2 | c.578T>G (p.Val193Gly) c.548T>G (p.Val183Gly) n.358T>G c.530T>G (p.Val177Gly) n.622T>G n.613T>G | |
11 | g.46725877T= | CA1969071917 | F2 | c.578T= (p.Val193=) c.548T= (p.Val183=) n.358T= c.530T= (p.Val177=) n.622T= n.613T= | |
11 | g.46725878A>C | CA474043325 | F2 | c.579A>C (p.Val193=) c.549A>C (p.Val183=) n.359A>C c.531A>C (p.Val177=) n.623A>C n.614A>C | |
11 | g.46725878A>G | CA474043323 | F2 | c.579A>G (p.Val193=) c.549A>G (p.Val183=) n.359A>G c.531A>G (p.Val177=) n.623A>G n.614A>G | gnomAD v4 |
11 | g.46725878A>T | CA474043324 | F2 | c.579A>T (p.Val193=) c.549A>T (p.Val183=) n.359A>T c.531A>T (p.Val177=) n.623A>T n.614A>T | |
11 | g.46725879G>A | CA380264690 | F2 | c.580G>A (p.Ala194Thr) c.550G>A (p.Ala184Thr) n.360G>A c.532G>A (p.Ala178Thr) n.624G>A n.615G>A | |
11 | g.46725879G>C | CA380264691 | F2 | c.580G>C (p.Ala194Pro) c.550G>C (p.Ala184Pro) n.360G>C c.532G>C (p.Ala178Pro) n.624G>C n.615G>C | |
11 | g.46725879G>T | CA380264692 | F2 | c.580G>T (p.Ala194Ser) c.550G>T (p.Ala184Ser) n.360G>T c.532G>T (p.Ala178Ser) n.624G>T n.615G>T | |
11 | g.46725880C>A | CA380264693 | F2 | c.581C>A (p.Ala194Glu) c.551C>A (p.Ala184Glu) n.361C>A c.533C>A (p.Ala178Glu) n.625C>A n.616C>A | gnomAD v4 |
11 | g.46725880C= | CA1969071918 | F2 | c.581C= (p.Ala194=) c.551C= (p.Ala184=) n.361C= c.533C= (p.Ala178=) n.625C= n.616C= | |
11 | g.46725880C>G | CA380264694 | F2 | c.581C>G (p.Ala194Gly) c.551C>G (p.Ala184Gly) n.361C>G c.533C>G (p.Ala178Gly) n.625C>G n.616C>G | |
11 | g.46725880C>T | CA5967015 | F2 | c.581C>T (p.Ala194Val) c.551C>T (p.Ala184Val) n.361C>T c.533C>T (p.Ala178Val) n.625C>T n.616C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725881G>A | CA5967016 | F2 | c.582G>A (p.Ala194=) c.552G>A (p.Ala184=) n.362G>A c.534G>A (p.Ala178=) n.626G>A n.617G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.46725881G>C | CA474043338 | F2 | c.582G>C (p.Ala194=) c.552G>C (p.Ala184=) n.362G>C c.534G>C (p.Ala178=) n.626G>C n.617G>C | |
11 | g.46725881G= | CA1969071920 | F2 | c.582G= (p.Ala194=) c.552G= (p.Ala184=) n.362G= c.534G= (p.Ala178=) n.626G= n.617G= | |
11 | g.46725881G>T | CA474043334 | F2 | c.582G>T (p.Ala194=) c.552G>T (p.Ala184=) n.362G>T c.534G>T (p.Ala178=) n.626G>T n.617G>T | |
11 | g.46725882A>C | CA380264695 | F2 | c.583A>C (p.Met195Leu) c.553A>C (p.Met185Leu) n.363A>C c.535A>C (p.Met179Leu) n.627A>C n.618A>C | |
11 | g.46725882A>G | CA380264696 | F2 | c.583A>G (p.Met195Val) c.553A>G (p.Met185Val) n.363A>G c.535A>G (p.Met179Val) n.627A>G n.618A>G | |
11 | g.46725882A>T | CA380264697 | F2 | c.583A>T (p.Met195Leu) c.553A>T (p.Met185Leu) n.363A>T c.535A>T (p.Met179Leu) n.627A>T n.618A>T | |
11 | g.46725883T>A | CA380264698 | F2 | c.584T>A (p.Met195Lys) c.554T>A (p.Met185Lys) n.364T>A c.536T>A (p.Met179Lys) n.628T>A n.619T>A | |
11 | g.46725883T>C | CA221651863 | F2 | c.584T>C (p.Met195Thr) c.554T>C (p.Met185Thr) n.364T>C c.536T>C (p.Met179Thr) n.628T>C n.619T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.46725883T>G | CA380264699 | F2 | c.584T>G (p.Met195Arg) c.554T>G (p.Met185Arg) n.364T>G c.536T>G (p.Met179Arg) n.628T>G n.619T>G | |
11 | g.46725883T= | CA1969071925 | F2 | c.584T= (p.Met195=) c.554T= (p.Met185=) n.364T= c.536T= (p.Met179=) n.628T= n.619T= | |
11 | g.46725884G>A | CA380264701 | F2 | c.585G>A (p.Met195Ile) c.555G>A (p.Met185Ile) n.365G>A c.537G>A (p.Met179Ile) n.629G>A n.620G>A | gnomAD v4 |
11 | g.46725884G>C | CA380264702 | F2 | c.585G>C (p.Met195Ile) c.555G>C (p.Met185Ile) n.365G>C c.537G>C (p.Met179Ile) n.629G>C n.620G>C | |
11 | g.46725884G>T | CA380264700 | F2 | c.585G>T (p.Met195Ile) c.555G>T (p.Met185Ile) n.365G>T c.537G>T (p.Met179Ile) n.629G>T n.620G>T | |
11 | g.46725885A>C | CA380264703 | F2 | c.586A>C (p.Thr196Pro) c.556A>C (p.Thr186Pro) n.366A>C c.538A>C (p.Thr180Pro) n.630A>C n.621A>C | gnomAD v4 |
11 | g.46725885A>G | CA380264704 | F2 | c.586A>G (p.Thr196Ala) c.556A>G (p.Thr186Ala) n.366A>G c.538A>G (p.Thr180Ala) n.630A>G n.621A>G | |
11 | g.46725885A>T | CA380264705 | F2 | c.586A>T (p.Thr196Ser) c.556A>T (p.Thr186Ser) n.366A>T c.538A>T (p.Thr180Ser) n.630A>T n.621A>T | |
11 | g.46725886C>A | CA380264706 | F2 | c.587C>A (p.Thr196Asn) c.557C>A (p.Thr186Asn) n.367C>A c.539C>A (p.Thr180Asn) n.631C>A n.622C>A | |
11 | g.46725886C= | CA1969071930 | F2 | c.587C= (p.Thr196=) c.557C= (p.Thr186=) n.367C= c.539C= (p.Thr180=) n.631C= n.622C= | |
11 | g.46725886C>G | CA380264707 | F2 | c.587C>G (p.Thr196Ser) c.557C>G (p.Thr186Ser) n.367C>G c.539C>G (p.Thr180Ser) n.631C>G n.622C>G | |
11 | g.46725886C>T | CA380264708 | F2 | c.587C>T (p.Thr196Ile) c.557C>T (p.Thr186Ile) n.367C>T c.539C>T (p.Thr180Ile) n.631C>T n.622C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46725887T>A | CA474043362 | F2 | c.588T>A (p.Thr196=) c.558T>A (p.Thr186=) n.368T>A c.540T>A (p.Thr180=) n.632T>A n.623T>A | |
11 | g.46725887T>C | CA474043365 | F2 | c.588T>C (p.Thr196=) c.558T>C (p.Thr186=) n.368T>C c.540T>C (p.Thr180=) n.632T>C n.623T>C | |
11 | g.46725887T>G | CA474043364 | F2 | c.588T>G (p.Thr196=) c.558T>G (p.Thr186=) n.368T>G c.540T>G (p.Thr180=) n.632T>G n.623T>G | |
11 | g.46725888C>A | CA5967017 | F2 | c.589C>A (p.Pro197Thr) c.559C>A (p.Pro187Thr) n.369C>A c.541C>A (p.Pro181Thr) n.633C>A n.624C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725888C= | CA1969071932 | F2 | c.589C= (p.Pro197=) c.559C= (p.Pro187=) n.369C= c.541C= (p.Pro181=) n.633C= n.624C= | |
11 | g.46725888C>G | CA380264709 | F2 | c.589C>G (p.Pro197Ala) c.559C>G (p.Pro187Ala) n.369C>G c.541C>G (p.Pro181Ala) n.633C>G n.624C>G | |
11 | g.46725888C>T | CA380264710 | F2 | c.589C>T (p.Pro197Ser) c.559C>T (p.Pro187Ser) n.369C>T c.541C>T (p.Pro181Ser) n.633C>T n.624C>T | |
11 | g.46725889C>A | CA380264711 | F2 | c.590C>A (p.Pro197Gln) c.560C>A (p.Pro187Gln) n.370C>A c.542C>A (p.Pro181Gln) n.634C>A n.625C>A | COSMIC |
11 | g.46725889C>G | CA380264712 | F2 | c.590C>G (p.Pro197Arg) c.560C>G (p.Pro187Arg) n.370C>G c.542C>G (p.Pro181Arg) n.634C>G n.625C>G | |
11 | g.46725889C>T | CA380264713 | F2 | c.590C>T (p.Pro197Leu) c.560C>T (p.Pro187Leu) n.370C>T c.542C>T (p.Pro181Leu) n.634C>T n.625C>T | COSMIC |
11 | g.46725890A>C | CA474043382 | F2 | c.591A>C (p.Pro197=) c.561A>C (p.Pro187=) n.371A>C c.543A>C (p.Pro181=) n.635A>C n.626A>C | |
11 | g.46725890A>G | CA474043383 | F2 | c.591A>G (p.Pro197=) c.561A>G (p.Pro187=) n.371A>G c.543A>G (p.Pro181=) n.635A>G n.626A>G | |
11 | g.46725890A>T | CA474043384 | F2 | c.591A>T (p.Pro197=) c.561A>T (p.Pro187=) n.371A>T c.543A>T (p.Pro181=) n.635A>T n.626A>T | |
11 | g.46725891C>A | CA380264715 | F2 | c.592C>A (p.Arg198Ser) c.562C>A (p.Arg188Ser) n.372C>A c.544C>A (p.Arg182Ser) n.636C>A n.627C>A | dbSNP gnomAD v4 |
11 | g.46725891C= | CA1969071935 | F2 | c.592C= (p.Arg198=) c.562C= (p.Arg188=) n.372C= c.544C= (p.Arg182=) n.636C= n.627C= | |
11 | g.46725891C>G | CA380264714 | F2 | c.592C>G (p.Arg198Gly) c.562C>G (p.Arg188Gly) n.372C>G c.544C>G (p.Arg182Gly) n.636C>G n.627C>G | |
11 | g.46725891C>T | CA5967018 | F2 | c.592C>T (p.Arg198Cys) c.562C>T (p.Arg188Cys) n.372C>T c.544C>T (p.Arg182Cys) n.636C>T n.627C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.46725891_46725900delinsCGCTCCGAAG | CA1969071937 | F2 | c.592_601delinsCGCTCCGAAG (p.Arg198=) c.562_571delinsCGCTCCGAAG (p.Arg188=) n.372_381delinsCGCTCCGAAG c.544_553delinsCGCTCCGAAG (p.Arg182=) n.636_645delinsCGCTCCGAAG n.627_636delinsCGCTCCGAAG | |
11 | g.46725892G>A | CA5967020 | F2 | c.593G>A (p.Arg198His) c.563G>A (p.Arg188His) n.373G>A c.545G>A (p.Arg182His) n.637G>A n.628G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725892G>C | CA380264716 | F2 | c.593G>C (p.Arg198Pro) c.563G>C (p.Arg188Pro) n.373G>C c.545G>C (p.Arg182Pro) n.637G>C n.628G>C | |
11 | g.46725892G= | CA1969071940 | F2 | c.593G= (p.Arg198=) c.563G= (p.Arg188=) n.373G= c.545G= (p.Arg182=) n.637G= n.628G= | |
11 | g.46725892G>T | CA380264717 | F2 | c.593G>T (p.Arg198Leu) c.563G>T (p.Arg188Leu) n.373G>T c.545G>T (p.Arg182Leu) n.637G>T n.628G>T | COSMIC |
11 | g.46725897_46725905del | CA5967019 | F2 | c.598_606del (p.Glu200_Ser202del) c.568_576del (p.Glu190_Ser192del) n.378_386del c.550_558del (p.Glu184_Ser186del) n.642_650del n.633_641del | dbSNP ExAC gnomAD v2 |
11 | g.46725893C>A | CA474043388 | F2 | c.594C>A (p.Arg198=) c.564C>A (p.Arg188=) n.374C>A c.546C>A (p.Arg182=) n.638C>A n.629C>A | |
11 | g.46725893C= | CA1969071943 | F2 | c.594C= (p.Arg198=) c.564C= (p.Arg188=) n.374C= c.546C= (p.Arg182=) n.638C= n.629C= | |
11 | g.46725893C>G | CA474043391 | F2 | c.594C>G (p.Arg198=) c.564C>G (p.Arg188=) n.374C>G c.546C>G (p.Arg182=) n.638C>G n.629C>G | |
11 | g.46725893C>T | CA221651924 | F2 | c.594C>T (p.Arg198=) c.564C>T (p.Arg188=) n.374C>T c.546C>T (p.Arg182=) n.638C>T n.629C>T | ClinVar dbSNP gnomAD v4 |
11 | g.46725894T>A | CA380264718 | F2 | c.595T>A (p.Ser199Thr) c.565T>A (p.Ser189Thr) n.375T>A c.547T>A (p.Ser183Thr) n.639T>A n.630T>A | |
11 | g.46725894T>C | CA380264719 | F2 | c.595T>C (p.Ser199Pro) c.565T>C (p.Ser189Pro) n.375T>C c.547T>C (p.Ser183Pro) n.639T>C n.630T>C | gnomAD v4 |
11 | g.46725894T>G | CA380264720 | F2 | c.595T>G (p.Ser199Ala) c.565T>G (p.Ser189Ala) n.375T>G c.547T>G (p.Ser183Ala) n.639T>G n.630T>G | |
11 | g.46725895C>A | CA380264721 | F2 | c.596C>A (p.Ser199Tyr) c.566C>A (p.Ser189Tyr) n.376C>A c.548C>A (p.Ser183Tyr) n.640C>A n.631C>A | |
11 | g.46725895C>G | CA380264722 | F2 | c.596C>G (p.Ser199Cys) c.566C>G (p.Ser189Cys) n.376C>G c.548C>G (p.Ser183Cys) n.640C>G n.631C>G | |
11 | g.46725895C>T | CA380264723 | F2 | c.596C>T (p.Ser199Phe) c.566C>T (p.Ser189Phe) n.376C>T c.548C>T (p.Ser183Phe) n.640C>T n.631C>T | gnomAD v4 |
11 | g.46725896C>A | CA474043407 | F2 | c.597C>A (p.Ser199=) c.567C>A (p.Ser189=) n.377C>A c.549C>A (p.Ser183=) n.641C>A n.632C>A | |
11 | g.46725896C= | CA1969071946 | F2 | c.597C= (p.Ser199=) c.567C= (p.Ser189=) n.377C= c.549C= (p.Ser183=) n.641C= n.632C= | |
11 | g.46725896C>G | CA474043409 | F2 | c.597C>G (p.Ser199=) c.567C>G (p.Ser189=) n.377C>G c.549C>G (p.Ser183=) n.641C>G n.632C>G | |
11 | g.46725896C>T | CA5967021 | F2 | c.597C>T (p.Ser199=) c.567C>T (p.Ser189=) n.377C>T c.549C>T (p.Ser183=) n.641C>T n.632C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725897G>A | CA090909 | F2 | c.598G>A (p.Glu200Lys) c.568G>A (p.Glu190Lys) n.378G>A c.550G>A (p.Glu184Lys) n.642G>A n.633G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725897G>C | CA380264725 | F2 | c.598G>C (p.Glu200Gln) c.568G>C (p.Glu190Gln) n.378G>C c.550G>C (p.Glu184Gln) n.642G>C n.633G>C | |
11 | g.46725897G= | CA1969071952 | F2 | c.598G= (p.Glu200=) c.568G= (p.Glu190=) n.378G= c.550G= (p.Glu184=) n.642G= n.633G= | |
11 | g.46725897G>T | CA380264724 | F2 | c.598G>T (p.Glu200Ter) c.568G>T (p.Glu190Ter) n.378G>T c.550G>T (p.Glu184Ter) n.642G>T n.633G>T | |
11 | g.46725898A>C | CA380264727 | F2 | c.599A>C (p.Glu200Ala) c.569A>C (p.Glu190Ala) n.379A>C c.551A>C (p.Glu184Ala) n.643A>C n.634A>C | |
11 | g.46725898A>G | CA380264731 | F2 | c.599A>G (p.Glu200Gly) c.569A>G (p.Glu190Gly) n.379A>G c.551A>G (p.Glu184Gly) n.643A>G n.634A>G | |
11 | g.46725898A>T | CA380264729 | F2 | c.599A>T (p.Glu200Val) c.569A>T (p.Glu190Val) n.379A>T c.551A>T (p.Glu184Val) n.643A>T n.634A>T | |
11 | g.46725899A= | CA1969071957 | F2 | c.600A= (p.Glu200=) c.570A= (p.Glu190=) n.380A= c.552A= (p.Glu184=) n.644A= n.635A= | |
11 | g.46725899A>C | CA380264732 | F2 | c.600A>C (p.Glu200Asp) c.570A>C (p.Glu190Asp) n.380A>C c.552A>C (p.Glu184Asp) n.644A>C n.635A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.46725899A>G | CA474043415 | F2 | c.600A>G (p.Glu200=) c.570A>G (p.Glu190=) n.380A>G c.552A>G (p.Glu184=) n.644A>G n.635A>G | |
11 | g.46725899A>T | CA380264733 | F2 | c.600A>T (p.Glu200Asp) c.570A>T (p.Glu190Asp) n.380A>T c.552A>T (p.Glu184Asp) n.644A>T n.635A>T | |
11 | g.46725900G>A | CA380264736 | F2 | c.601G>A (p.Gly201Ser) c.571G>A (p.Gly191Ser) n.381G>A c.553G>A (p.Gly185Ser) n.645G>A n.636G>A | |
11 | g.46725900G>C | CA380264737 | F2 | c.601G>C (p.Gly201Arg) c.571G>C (p.Gly191Arg) n.381G>C c.553G>C (p.Gly185Arg) n.645G>C n.636G>C | |
11 | g.46725900G>T | CA380264739 | F2 | c.601G>T (p.Gly201Cys) c.571G>T (p.Gly191Cys) n.381G>T c.553G>T (p.Gly185Cys) n.645G>T n.636G>T | COSMIC |
11 | g.46725901G>A | CA380264740 | F2 | c.602G>A (p.Gly201Asp) c.572G>A (p.Gly191Asp) n.382G>A c.554G>A (p.Gly185Asp) n.646G>A n.637G>A | gnomAD v4 COSMIC |
11 | g.46725901G>C | CA380264741 | F2 | c.602G>C (p.Gly201Ala) c.572G>C (p.Gly191Ala) n.382G>C c.554G>C (p.Gly185Ala) n.646G>C n.637G>C | dbSNP |
11 | g.46725901G= | CA1969071959 | F2 | c.602G= (p.Gly201=) c.572G= (p.Gly191=) n.382G= c.554G= (p.Gly185=) n.646G= n.637G= | |
11 | g.46725901G>T | CA380264744 | F2 | c.602G>T (p.Gly201Val) c.572G>T (p.Gly191Val) n.382G>T c.554G>T (p.Gly185Val) n.646G>T n.637G>T | gnomAD v4 |
11 | g.46725902C>A | CA474043432 | F2 | c.603C>A (p.Gly201=) c.573C>A (p.Gly191=) n.383C>A c.555C>A (p.Gly185=) n.647C>A n.638C>A | |
11 | g.46725902C= | CA1969071962 | F2 | c.603C= (p.Gly201=) c.573C= (p.Gly191=) n.383C= c.555C= (p.Gly185=) n.647C= n.638C= | |
11 | g.46725902C>G | CA474043436 | F2 | c.603C>G (p.Gly201=) c.573C>G (p.Gly191=) n.383C>G c.555C>G (p.Gly185=) n.647C>G n.638C>G | |
11 | g.46725902C>T | CA474043435 | F2 | c.603C>T (p.Gly201=) c.573C>T (p.Gly191=) n.383C>T c.555C>T (p.Gly185=) n.647C>T n.638C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46725903T>A | CA380264745 | F2 | c.604T>A (p.Ser202Thr) c.574T>A (p.Ser192Thr) n.384T>A c.556T>A (p.Ser186Thr) n.648T>A n.639T>A | |
11 | g.46725903T>C | CA380264746 | F2 | c.604T>C (p.Ser202Pro) c.574T>C (p.Ser192Pro) n.384T>C c.556T>C (p.Ser186Pro) n.648T>C n.639T>C | |
11 | g.46725903T>G | CA380264747 | F2 | c.604T>G (p.Ser202Ala) c.574T>G (p.Ser192Ala) n.384T>G c.556T>G (p.Ser186Ala) n.648T>G n.639T>G | |
11 | g.46725904C>A | CA380264752 | F2 | c.605C>A (p.Ser202Tyr) c.575C>A (p.Ser192Tyr) n.385C>A c.557C>A (p.Ser186Tyr) n.649C>A n.640C>A | |
11 | g.46725904C= | CA1969071968 | F2 | c.605C= (p.Ser202=) c.575C= (p.Ser192=) n.385C= c.557C= (p.Ser186=) n.649C= n.640C= | |
11 | g.46725904C>G | CA380264751 | F2 | c.605C>G (p.Ser202Cys) c.575C>G (p.Ser192Cys) n.385C>G c.557C>G (p.Ser186Cys) n.649C>G n.640C>G | |
11 | g.46725904C>T | CA380264749 | F2 | c.605C>T (p.Ser202Phe) c.575C>T (p.Ser192Phe) n.385C>T c.557C>T (p.Ser186Phe) n.649C>T n.640C>T | dbSNP COSMIC |
11 | g.46725905C>A | CA474043452 | F2 | c.606C>A (p.Ser202=) c.576C>A (p.Ser192=) n.386C>A c.558C>A (p.Ser186=) n.650C>A n.641C>A | |
11 | g.46725905C= | CA1969071970 | F2 | c.606C= (p.Ser202=) c.576C= (p.Ser192=) n.386C= c.558C= (p.Ser186=) n.650C= n.641C= | |
11 | g.46725905C>G | CA474043449 | F2 | c.606C>G (p.Ser202=) c.576C>G (p.Ser192=) n.386C>G c.558C>G (p.Ser186=) n.650C>G n.641C>G | |
11 | g.46725905C>T | CA5967022 | F2 | c.606C>T (p.Ser202=) c.576C>T (p.Ser192=) n.386C>T c.558C>T (p.Ser186=) n.650C>T n.641C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46725906A= | CA1969071973 | F2 | c.607A= (p.Ser203=) c.577A= (p.Ser193=) n.387A= c.559A= (p.Ser187=) n.651A= n.642A= | |
11 | g.46725906A>C | CA380264755 | F2 | c.607A>C (p.Ser203Arg) c.577A>C (p.Ser193Arg) n.387A>C c.559A>C (p.Ser187Arg) n.651A>C n.642A>C | gnomAD v4 |
11 | g.46725906A>G | CA380264757 | F2 | c.607A>G (p.Ser203Gly) c.577A>G (p.Ser193Gly) n.387A>G c.559A>G (p.Ser187Gly) n.651A>G n.642A>G | ClinVar dbSNP gnomAD v4 |
11 | g.46725906A>T | CA380264758 | F2 | c.607A>T (p.Ser203Cys) c.577A>T (p.Ser193Cys) n.387A>T c.559A>T (p.Ser187Cys) n.651A>T n.642A>T | |
11 | g.46725907G>A | CA380264761 | F2 | c.608G>A (p.Ser203Asn) c.578G>A (p.Ser193Asn) n.388G>A c.560G>A (p.Ser187Asn) n.652G>A n.643G>A | dbSNP gnomAD v4 |
11 | g.46725907G>C | CA380264762 | F2 | c.608G>C (p.Ser203Thr) c.578G>C (p.Ser193Thr) n.388G>C c.560G>C (p.Ser187Thr) n.652G>C n.643G>C | |
11 | g.46725907G= | CA1969071976 | F2 | c.608G= (p.Ser203=) c.578G= (p.Ser193=) n.388G= c.560G= (p.Ser187=) n.652G= n.643G= | |
11 | g.46725907G>T | CA380264763 | F2 | c.608G>T (p.Ser203Ile) c.578G>T (p.Ser193Ile) n.388G>T c.560G>T (p.Ser187Ile) n.652G>T n.643G>T | |
11 | g.46725908T>A | CA380264765 | F2 | c.609T>A (p.Ser203Arg) c.579T>A (p.Ser193Arg) n.389T>A c.561T>A (p.Ser187Arg) n.653T>A n.644T>A | |
11 | g.46725908T>C | CA474043465 | F2 | c.609T>C (p.Ser203=) c.579T>C (p.Ser193=) n.389T>C c.561T>C (p.Ser187=) n.653T>C n.644T>C | |
11 | g.46725908T>G | CA380264767 | F2 | c.609T>G (p.Ser203Arg) c.579T>G (p.Ser193Arg) n.389T>G c.561T>G (p.Ser187Arg) n.653T>G n.644T>G | |
11 | g.46725909G>A | CA380264768 | F2 | c.610G>A (p.Val204Met) c.580G>A (p.Val194Met) n.390G>A c.562G>A (p.Val188Met) n.654G>A n.645G>A | gnomAD v4 |
11 | g.46725909G>C | CA380264770 | F2 | c.610G>C (p.Val204Leu) c.580G>C (p.Val194Leu) n.390G>C c.562G>C (p.Val188Leu) n.654G>C n.645G>C | |
11 | g.46725909G>T | CA380264771 | F2 | c.610G>T (p.Val204Leu) c.580G>T (p.Val194Leu) n.390G>T c.562G>T (p.Val188Leu) n.654G>T n.645G>T | |
11 | g.46725910T>A | CA380264776 | F2 | c.611T>A (p.Val204Glu) c.581T>A (p.Val194Glu) n.391T>A c.563T>A (p.Val188Glu) n.655T>A n.646T>A | |
11 | g.46725910T>C | CA380264774 | F2 | c.611T>C (p.Val204Ala) c.581T>C (p.Val194Ala) n.391T>C c.563T>C (p.Val188Ala) n.655T>C n.646T>C | |
11 | g.46725910T>G | CA380264773 | F2 | c.611T>G (p.Val204Gly) c.581T>G (p.Val194Gly) n.391T>G c.563T>G (p.Val188Gly) n.655T>G n.646T>G | |
11 | g.46725911G>A | CA474043483 | F2 | c.612G>A (p.Val204=) c.582G>A (p.Val194=) n.392G>A c.564G>A (p.Val188=) n.656G>A n.647G>A | |
11 | g.46725911G>C | CA474043484 | F2 | c.612G>C (p.Val204=) c.582G>C (p.Val194=) n.392G>C c.564G>C (p.Val188=) n.656G>C n.647G>C | gnomAD v4 |
11 | g.46725911G>T | CA474043486 | F2 | c.612G>T (p.Val204=) c.582G>T (p.Val194=) n.392G>T c.564G>T (p.Val188=) n.656G>T n.647G>T | |
11 | g.46725912A= | CA1969071979 | F2 | c.613A= (p.Asn205=) c.583A= (p.Asn195=) n.393A= c.565A= (p.Asn189=) n.657A= n.648A= | |
11 | g.46725912A>C | CA380264778 | F2 | c.613A>C (p.Asn205His) c.583A>C (p.Asn195His) n.393A>C c.565A>C (p.Asn189His) n.657A>C n.648A>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46725912A>G | CA380264779 | F2 | c.613A>G (p.Asn205Asp) c.583A>G (p.Asn195Asp) n.393A>G c.565A>G (p.Asn189Asp) n.657A>G n.648A>G | |
11 | g.46725912A>T | CA380264781 | F2 | c.613A>T (p.Asn205Tyr) c.583A>T (p.Asn195Tyr) n.393A>T c.565A>T (p.Asn189Tyr) n.657A>T n.648A>T | |
11 | g.46725913A= | CA1969071982 | F2 | c.614A= (p.Asn205=) c.584A= (p.Asn195=) n.394A= c.566A= (p.Asn189=) n.658A= n.649A= | |
11 | g.46725913A>C | CA380264782 | F2 | c.614A>C (p.Asn205Thr) c.584A>C (p.Asn195Thr) n.394A>C c.566A>C (p.Asn189Thr) n.658A>C n.649A>C | dbSNP |
11 | g.46725913A>G | CA380264784 | F2 | c.614A>G (p.Asn205Ser) c.584A>G (p.Asn195Ser) n.394A>G c.566A>G (p.Asn189Ser) n.658A>G n.649A>G | |
11 | g.46725913A>T | CA380264785 | F2 | c.614A>T (p.Asn205Ile) c.584A>T (p.Asn195Ile) n.394A>T c.566A>T (p.Asn189Ile) n.658A>T n.649A>T | |
11 | g.46725914T>A | CA380264787 | F2 | c.615T>A (p.Asn205Lys) c.585T>A (p.Asn195Lys) n.395T>A c.567T>A (p.Asn189Lys) n.659T>A n.650T>A | |
11 | g.46725914T>C | CA474043505 | F2 | c.615T>C (p.Asn205=) c.585T>C (p.Asn195=) n.395T>C c.567T>C (p.Asn189=) n.659T>C n.650T>C | COSMIC |
11 | g.46725914T>G | CA380264788 | F2 | c.615T>G (p.Asn205Lys) c.585T>G (p.Asn195Lys) n.395T>G c.567T>G (p.Asn189Lys) n.659T>G n.650T>G | |
11 | g.46725915C>A | CA380264790 | F2 | c.616C>A (p.Leu206Met) c.586C>A (p.Leu196Met) n.396C>A c.568C>A (p.Leu190Met) n.660C>A n.651C>A | gnomAD v4 |
11 | g.46725915C>G | CA380264791 | F2 | c.616C>G (p.Leu206Val) c.586C>G (p.Leu196Val) n.396C>G c.568C>G (p.Leu190Val) n.660C>G n.651C>G | |
11 | g.46725915C>T | CA474043510 | F2 | c.616C>T (p.Leu206=) c.586C>T (p.Leu196=) n.396C>T c.568C>T (p.Leu190=) n.660C>T n.651C>T | |
11 | g.46725916T>A | CA380264793 | F2 | c.617T>A (p.Leu206Gln) c.587T>A (p.Leu196Gln) n.397T>A c.569T>A (p.Leu190Gln) n.661T>A n.652T>A | gnomAD v4 |
11 | g.46725916T>C | CA380264795 | F2 | c.617T>C (p.Leu206Pro) c.587T>C (p.Leu196Pro) n.397T>C c.569T>C (p.Leu190Pro) n.661T>C n.652T>C | |
11 | g.46725916T>G | CA380264797 | F2 | c.617T>G (p.Leu206Arg) c.587T>G (p.Leu196Arg) n.397T>G c.569T>G (p.Leu190Arg) n.661T>G n.652T>G | |
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 | ClinVar 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 |