Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.46725860C>ACA221651782F2c.561C>A (p.Gly187=)
c.531C>A (p.Gly177=)
n.341C>A
c.513C>A (p.Gly171=)
n.605C>A
n.596C>A
 dbSNP gnomAD v4
11g.46725860C=CA1969071887F2c.561C= (p.Gly187=)
c.531C= (p.Gly177=)
n.341C=
c.513C= (p.Gly171=)
n.605C=
n.596C=
11g.46725860C>GCA473871335F2c.561C>G (p.Gly187=)
c.531C>G (p.Gly177=)
n.341C>G
c.513C>G (p.Gly171=)
n.605C>G
n.596C>G
11g.46725860C>TCA473871333F2c.561C>T (p.Gly187=)
c.531C>T (p.Gly177=)
n.341C>T
c.513C>T (p.Gly171=)
n.605C>T
n.596C>T
 dbSNP gnomAD v4
11g.46725861C>ACA380264020F2c.562C>A (p.Gln188Lys)
c.532C>A (p.Gln178Lys)
n.342C>A
c.514C>A (p.Gln172Lys)
n.606C>A
n.597C>A
11g.46725861C>GCA380264018F2c.562C>G (p.Gln188Glu)
c.532C>G (p.Gln178Glu)
n.342C>G
c.514C>G (p.Gln172Glu)
n.606C>G
n.597C>G
11g.46725861C>TCA380264019F2c.562C>T (p.Gln188Ter)
c.532C>T (p.Gln178Ter)
n.342C>T
c.514C>T (p.Gln172Ter)
n.606C>T
n.597C>T
11g.46725861_46725877delinsCAGGATCAAGTCACTGTCA1969071891F2c.562_578delinsCAGGATCAAGTCACTGT (p.Gln188=)
c.532_548delinsCAGGATCAAGTCACTGT (p.Gln178=)
n.342_358delinsCAGGATCAAGTCACTGT
c.514_530delinsCAGGATCAAGTCACTGT (p.Gln172=)
n.606_622delinsCAGGATCAAGTCACTGT
n.597_613delinsCAGGATCAAGTCACTGT
11g.46725862A>CCA380264022F2c.563A>C (p.Gln188Pro)
c.533A>C (p.Gln178Pro)
n.343A>C
c.515A>C (p.Gln172Pro)
n.607A>C
n.598A>C
11g.46725862A>GCA380264029F2c.563A>G (p.Gln188Arg)
c.533A>G (p.Gln178Arg)
n.343A>G
c.515A>G (p.Gln172Arg)
n.607A>G
n.598A>G
11g.46725862A>TCA380264031F2c.563A>T (p.Gln188Leu)
c.533A>T (p.Gln178Leu)
n.343A>T
c.515A>T (p.Gln172Leu)
n.607A>T
n.598A>T
11g.46725864_46725879delCA599046066F2c.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
11g.46725863G>ACA473871340F2c.564G>A (p.Gln188=)
c.534G>A (p.Gln178=)
n.344G>A
c.516G>A (p.Gln172=)
n.608G>A
n.599G>A
11g.46725863G>CCA221651785F2c.564G>C (p.Gln188His)
c.534G>C (p.Gln178His)
n.344G>C
c.516G>C (p.Gln172His)
n.608G>C
n.599G>C
 dbSNP gnomAD v4
11g.46725863G=CA1969071896F2c.564G= (p.Gln188=)
c.534G= (p.Gln178=)
n.344G=
c.516G= (p.Gln172=)
n.608G=
n.599G=
11g.46725863G>TCA380264034F2c.564G>T (p.Gln188His)
c.534G>T (p.Gln178His)
n.344G>T
c.516G>T (p.Gln172His)
n.608G>T
n.599G>T
11g.46725864G>ACA380264036F2c.565G>A (p.Asp189Asn)
c.535G>A (p.Asp179Asn)
n.345G>A
c.517G>A (p.Asp173Asn)
n.609G>A
n.600G>A
11g.46725864G>CCA380264039F2c.565G>C (p.Asp189His)
c.535G>C (p.Asp179His)
n.345G>C
c.517G>C (p.Asp173His)
n.609G>C
n.600G>C
11g.46725864G=CA1969071898F2c.565G= (p.Asp189=)
c.535G= (p.Asp179=)
n.345G=
c.517G= (p.Asp173=)
n.609G=
n.600G=
11g.46725864G>TCA5967012F2c.565G>T (p.Asp189Tyr)
c.535G>T (p.Asp179Tyr)
n.345G>T
c.517G>T (p.Asp173Tyr)
n.609G>T
n.600G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46725865A>CCA380264041F2c.566A>C (p.Asp189Ala)
c.536A>C (p.Asp179Ala)
n.346A>C
c.518A>C (p.Asp173Ala)
n.610A>C
n.601A>C
11g.46725865A>GCA380264042F2c.566A>G (p.Asp189Gly)
c.536A>G (p.Asp179Gly)
n.346A>G
c.518A>G (p.Asp173Gly)
n.610A>G
n.601A>G
11g.46725865A>TCA380264044F2c.566A>T (p.Asp189Val)
c.536A>T (p.Asp179Val)
n.346A>T
c.518A>T (p.Asp173Val)
n.610A>T
n.601A>T
11g.46725866T>ACA380264665F2c.567T>A (p.Asp189Glu)
c.537T>A (p.Asp179Glu)
n.347T>A
c.519T>A (p.Asp173Glu)
n.611T>A
n.602T>A
11g.46725866T>CCA474043267F2c.567T>C (p.Asp189=)
c.537T>C (p.Asp179=)
n.347T>C
c.519T>C (p.Asp173=)
n.611T>C
n.602T>C
11g.46725866T>GCA380264666F2c.567T>G (p.Asp189Glu)
c.537T>G (p.Asp179Glu)
n.347T>G
c.519T>G (p.Asp173Glu)
n.611T>G
n.602T>G
11g.46725867C>ACA380264667F2c.568C>A (p.Gln190Lys)
c.538C>A (p.Gln180Lys)
n.348C>A
c.520C>A (p.Gln174Lys)
n.612C>A
n.603C>A
 gnomAD v4
11g.46725867C=CA1969071903F2c.568C= (p.Gln190=)
c.538C= (p.Gln180=)
n.348C=
c.520C= (p.Gln174=)
n.612C=
n.603C=
11g.46725867C>GCA221651809F2c.568C>G (p.Gln190Glu)
c.538C>G (p.Gln180Glu)
n.348C>G
c.520C>G (p.Gln174Glu)
n.612C>G
n.603C>G
 dbSNP gnomAD v2 gnomAD v4
11g.46725867C>TCA380264668F2c.568C>T (p.Gln190Ter)
c.538C>T (p.Gln180Ter)
n.348C>T
c.520C>T (p.Gln174Ter)
n.612C>T
n.603C>T
11g.46725868A>CCA380264669F2c.569A>C (p.Gln190Pro)
c.539A>C (p.Gln180Pro)
n.349A>C
c.521A>C (p.Gln174Pro)
n.613A>C
n.604A>C
11g.46725868A>GCA380264670F2c.569A>G (p.Gln190Arg)
c.539A>G (p.Gln180Arg)
n.349A>G
c.521A>G (p.Gln174Arg)
n.613A>G
n.604A>G
11g.46725868A>TCA380264671F2c.569A>T (p.Gln190Leu)
c.539A>T (p.Gln180Leu)
n.349A>T
c.521A>T (p.Gln174Leu)
n.613A>T
n.604A>T
11g.46725869A>CCA380264672F2c.570A>C (p.Gln190His)
c.540A>C (p.Gln180His)
n.350A>C
c.522A>C (p.Gln174His)
n.614A>C
n.605A>C
11g.46725869A>GCA474043292F2c.570A>G (p.Gln190=)
c.540A>G (p.Gln180=)
n.350A>G
c.522A>G (p.Gln174=)
n.614A>G
n.605A>G
11g.46725869A>TCA380264673F2c.570A>T (p.Gln190His)
c.540A>T (p.Gln180His)
n.350A>T
c.522A>T (p.Gln174His)
n.614A>T
n.605A>T
11g.46725870G>ACA221651821F2c.571G>A (p.Val191Ile)
c.541G>A (p.Val181Ile)
n.351G>A
c.523G>A (p.Val175Ile)
n.615G>A
n.606G>A
 dbSNP gnomAD v3 gnomAD v4
11g.46725870G>CCA380264675F2c.571G>C (p.Val191Leu)
c.541G>C (p.Val181Leu)
n.351G>C
c.523G>C (p.Val175Leu)
n.615G>C
n.606G>C
11g.46725870G=CA1969071906F2c.571G= (p.Val191=)
c.541G= (p.Val181=)
n.351G=
c.523G= (p.Val175=)
n.615G=
n.606G=
11g.46725870G>TCA380264674F2c.571G>T (p.Val191Phe)
c.541G>T (p.Val181Phe)
n.351G>T
c.523G>T (p.Val175Phe)
n.615G>T
n.606G>T
11g.46725871T>ACA380264676F2c.572T>A (p.Val191Asp)
c.542T>A (p.Val181Asp)
n.352T>A
c.524T>A (p.Val175Asp)
n.616T>A
n.607T>A
11g.46725871T>CCA380264677F2c.572T>C (p.Val191Ala)
c.542T>C (p.Val181Ala)
n.352T>C
c.524T>C (p.Val175Ala)
n.616T>C
n.607T>C
 gnomAD v4
11g.46725871T>GCA380264678F2c.572T>G (p.Val191Gly)
c.542T>G (p.Val181Gly)
n.352T>G
c.524T>G (p.Val175Gly)
n.616T>G
n.607T>G
11g.46725872C>ACA474043294F2c.573C>A (p.Val191=)
c.543C>A (p.Val181=)
n.353C>A
c.525C>A (p.Val175=)
n.617C>A
n.608C>A
 gnomAD v4 COSMIC
11g.46725872C>GCA474043296F2c.573C>G (p.Val191=)
c.543C>G (p.Val181=)
n.353C>G
c.525C>G (p.Val175=)
n.617C>G
n.608C>G
11g.46725872C>TCA474043298F2c.573C>T (p.Val191=)
c.543C>T (p.Val181=)
n.353C>T
c.525C>T (p.Val175=)
n.617C>T
n.608C>T
11g.46725873A=CA1969071913F2c.574A= (p.Thr192=)
c.544A= (p.Thr182=)
n.354A=
c.526A= (p.Thr176=)
n.618A=
n.609A=
11g.46725873A>CCA380264679F2c.574A>C (p.Thr192Pro)
c.544A>C (p.Thr182Pro)
n.354A>C
c.526A>C (p.Thr176Pro)
n.618A>C
n.609A>C
11g.46725873A>GCA380264680F2c.574A>G (p.Thr192Ala)
c.544A>G (p.Thr182Ala)
n.354A>G
c.526A>G (p.Thr176Ala)
n.618A>G
n.609A>G
 dbSNP gnomAD v3 gnomAD v4
11g.46725873A>TCA380264681F2c.574A>T (p.Thr192Ser)
c.544A>T (p.Thr182Ser)
n.354A>T
c.526A>T (p.Thr176Ser)
n.618A>T
n.609A>T
11g.46725874C>ACA380264682F2c.575C>A (p.Thr192Asn)
c.545C>A (p.Thr182Asn)
n.355C>A
c.527C>A (p.Thr176Asn)
n.619C>A
n.610C>A
11g.46725874C>GCA380264683F2c.575C>G (p.Thr192Ser)
c.545C>G (p.Thr182Ser)
n.355C>G
c.527C>G (p.Thr176Ser)
n.619C>G
n.610C>G
11g.46725874C>TCA380264684F2c.575C>T (p.Thr192Ile)
c.545C>T (p.Thr182Ile)
n.355C>T
c.527C>T (p.Thr176Ile)
n.619C>T
n.610C>T
11g.46725875T>ACA474043304F2c.576T>A (p.Thr192=)
c.546T>A (p.Thr182=)
n.356T>A
c.528T>A (p.Thr176=)
n.620T>A
n.611T>A
11g.46725875T>CCA5967013F2c.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
11g.46725875T>GCA474043303F2c.576T>G (p.Thr192=)
c.546T>G (p.Thr182=)
n.356T>G
c.528T>G (p.Thr176=)
n.620T>G
n.611T>G
11g.46725875T=CA1969071914F2c.576T= (p.Thr192=)
c.546T= (p.Thr182=)
n.356T=
c.528T= (p.Thr176=)
n.620T=
n.611T=
11g.46725876G>ACA380264685F2c.577G>A (p.Val193Ile)
c.547G>A (p.Val183Ile)
n.357G>A
c.529G>A (p.Val177Ile)
n.621G>A
n.612G>A
11g.46725876G>CCA380264686F2c.577G>C (p.Val193Leu)
c.547G>C (p.Val183Leu)
n.357G>C
c.529G>C (p.Val177Leu)
n.621G>C
n.612G>C
11g.46725876G>TCA380264687F2c.577G>T (p.Val193Leu)
c.547G>T (p.Val183Leu)
n.357G>T
c.529G>T (p.Val177Leu)
n.621G>T
n.612G>T
11g.46725877T>ACA380264689F2c.578T>A (p.Val193Glu)
c.548T>A (p.Val183Glu)
n.358T>A
c.530T>A (p.Val177Glu)
n.622T>A
n.613T>A
11g.46725877T>CCA5967014F2c.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
11g.46725877T>GCA380264688F2c.578T>G (p.Val193Gly)
c.548T>G (p.Val183Gly)
n.358T>G
c.530T>G (p.Val177Gly)
n.622T>G
n.613T>G
11g.46725877T=CA1969071917F2c.578T= (p.Val193=)
c.548T= (p.Val183=)
n.358T=
c.530T= (p.Val177=)
n.622T=
n.613T=
11g.46725878A>CCA474043325F2c.579A>C (p.Val193=)
c.549A>C (p.Val183=)
n.359A>C
c.531A>C (p.Val177=)
n.623A>C
n.614A>C
11g.46725878A>GCA474043323F2c.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
11g.46725878A>TCA474043324F2c.579A>T (p.Val193=)
c.549A>T (p.Val183=)
n.359A>T
c.531A>T (p.Val177=)
n.623A>T
n.614A>T
11g.46725879G>ACA380264690F2c.580G>A (p.Ala194Thr)
c.550G>A (p.Ala184Thr)
n.360G>A
c.532G>A (p.Ala178Thr)
n.624G>A
n.615G>A
11g.46725879G>CCA380264691F2c.580G>C (p.Ala194Pro)
c.550G>C (p.Ala184Pro)
n.360G>C
c.532G>C (p.Ala178Pro)
n.624G>C
n.615G>C
11g.46725879G>TCA380264692F2c.580G>T (p.Ala194Ser)
c.550G>T (p.Ala184Ser)
n.360G>T
c.532G>T (p.Ala178Ser)
n.624G>T
n.615G>T
11g.46725880C>ACA380264693F2c.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
11g.46725880C=CA1969071918F2c.581C= (p.Ala194=)
c.551C= (p.Ala184=)
n.361C=
c.533C= (p.Ala178=)
n.625C=
n.616C=
11g.46725880C>GCA380264694F2c.581C>G (p.Ala194Gly)
c.551C>G (p.Ala184Gly)
n.361C>G
c.533C>G (p.Ala178Gly)
n.625C>G
n.616C>G
11g.46725880C>TCA5967015F2c.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
11g.46725881G>ACA5967016F2c.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
11g.46725881G>CCA474043338F2c.582G>C (p.Ala194=)
c.552G>C (p.Ala184=)
n.362G>C
c.534G>C (p.Ala178=)
n.626G>C
n.617G>C
11g.46725881G=CA1969071920F2c.582G= (p.Ala194=)
c.552G= (p.Ala184=)
n.362G=
c.534G= (p.Ala178=)
n.626G=
n.617G=
11g.46725881G>TCA474043334F2c.582G>T (p.Ala194=)
c.552G>T (p.Ala184=)
n.362G>T
c.534G>T (p.Ala178=)
n.626G>T
n.617G>T
11g.46725882A>CCA380264695F2c.583A>C (p.Met195Leu)
c.553A>C (p.Met185Leu)
n.363A>C
c.535A>C (p.Met179Leu)
n.627A>C
n.618A>C
11g.46725882A>GCA380264696F2c.583A>G (p.Met195Val)
c.553A>G (p.Met185Val)
n.363A>G
c.535A>G (p.Met179Val)
n.627A>G
n.618A>G
11g.46725882A>TCA380264697F2c.583A>T (p.Met195Leu)
c.553A>T (p.Met185Leu)
n.363A>T
c.535A>T (p.Met179Leu)
n.627A>T
n.618A>T
11g.46725883T>ACA380264698F2c.584T>A (p.Met195Lys)
c.554T>A (p.Met185Lys)
n.364T>A
c.536T>A (p.Met179Lys)
n.628T>A
n.619T>A
11g.46725883T>CCA221651863F2c.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
11g.46725883T>GCA380264699F2c.584T>G (p.Met195Arg)
c.554T>G (p.Met185Arg)
n.364T>G
c.536T>G (p.Met179Arg)
n.628T>G
n.619T>G
11g.46725883T=CA1969071925F2c.584T= (p.Met195=)
c.554T= (p.Met185=)
n.364T=
c.536T= (p.Met179=)
n.628T=
n.619T=
11g.46725884G>ACA380264701F2c.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
11g.46725884G>CCA380264702F2c.585G>C (p.Met195Ile)
c.555G>C (p.Met185Ile)
n.365G>C
c.537G>C (p.Met179Ile)
n.629G>C
n.620G>C
11g.46725884G>TCA380264700F2c.585G>T (p.Met195Ile)
c.555G>T (p.Met185Ile)
n.365G>T
c.537G>T (p.Met179Ile)
n.629G>T
n.620G>T
11g.46725885A>CCA380264703F2c.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
11g.46725885A>GCA380264704F2c.586A>G (p.Thr196Ala)
c.556A>G (p.Thr186Ala)
n.366A>G
c.538A>G (p.Thr180Ala)
n.630A>G
n.621A>G
11g.46725885A>TCA380264705F2c.586A>T (p.Thr196Ser)
c.556A>T (p.Thr186Ser)
n.366A>T
c.538A>T (p.Thr180Ser)
n.630A>T
n.621A>T
11g.46725886C>ACA380264706F2c.587C>A (p.Thr196Asn)
c.557C>A (p.Thr186Asn)
n.367C>A
c.539C>A (p.Thr180Asn)
n.631C>A
n.622C>A
11g.46725886C=CA1969071930F2c.587C= (p.Thr196=)
c.557C= (p.Thr186=)
n.367C=
c.539C= (p.Thr180=)
n.631C=
n.622C=
11g.46725886C>GCA380264707F2c.587C>G (p.Thr196Ser)
c.557C>G (p.Thr186Ser)
n.367C>G
c.539C>G (p.Thr180Ser)
n.631C>G
n.622C>G
11g.46725886C>TCA380264708F2c.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
11g.46725887T>ACA474043362F2c.588T>A (p.Thr196=)
c.558T>A (p.Thr186=)
n.368T>A
c.540T>A (p.Thr180=)
n.632T>A
n.623T>A
11g.46725887T>CCA474043365F2c.588T>C (p.Thr196=)
c.558T>C (p.Thr186=)
n.368T>C
c.540T>C (p.Thr180=)
n.632T>C
n.623T>C
11g.46725887T>GCA474043364F2c.588T>G (p.Thr196=)
c.558T>G (p.Thr186=)
n.368T>G
c.540T>G (p.Thr180=)
n.632T>G
n.623T>G
11g.46725888C>ACA5967017F2c.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
11g.46725888C=CA1969071932F2c.589C= (p.Pro197=)
c.559C= (p.Pro187=)
n.369C=
c.541C= (p.Pro181=)
n.633C=
n.624C=
11g.46725888C>GCA380264709F2c.589C>G (p.Pro197Ala)
c.559C>G (p.Pro187Ala)
n.369C>G
c.541C>G (p.Pro181Ala)
n.633C>G
n.624C>G
11g.46725888C>TCA380264710F2c.589C>T (p.Pro197Ser)
c.559C>T (p.Pro187Ser)
n.369C>T
c.541C>T (p.Pro181Ser)
n.633C>T
n.624C>T
11g.46725889C>ACA380264711F2c.590C>A (p.Pro197Gln)
c.560C>A (p.Pro187Gln)
n.370C>A
c.542C>A (p.Pro181Gln)
n.634C>A
n.625C>A
 COSMIC
11g.46725889C>GCA380264712F2c.590C>G (p.Pro197Arg)
c.560C>G (p.Pro187Arg)
n.370C>G
c.542C>G (p.Pro181Arg)
n.634C>G
n.625C>G
11g.46725889C>TCA380264713F2c.590C>T (p.Pro197Leu)
c.560C>T (p.Pro187Leu)
n.370C>T
c.542C>T (p.Pro181Leu)
n.634C>T
n.625C>T
 COSMIC
11g.46725890A>CCA474043382F2c.591A>C (p.Pro197=)
c.561A>C (p.Pro187=)
n.371A>C
c.543A>C (p.Pro181=)
n.635A>C
n.626A>C
11g.46725890A>GCA474043383F2c.591A>G (p.Pro197=)
c.561A>G (p.Pro187=)
n.371A>G
c.543A>G (p.Pro181=)
n.635A>G
n.626A>G
11g.46725890A>TCA474043384F2c.591A>T (p.Pro197=)
c.561A>T (p.Pro187=)
n.371A>T
c.543A>T (p.Pro181=)
n.635A>T
n.626A>T
11g.46725891C>ACA380264715F2c.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
11g.46725891C=CA1969071935F2c.592C= (p.Arg198=)
c.562C= (p.Arg188=)
n.372C=
c.544C= (p.Arg182=)
n.636C=
n.627C=
11g.46725891C>GCA380264714F2c.592C>G (p.Arg198Gly)
c.562C>G (p.Arg188Gly)
n.372C>G
c.544C>G (p.Arg182Gly)
n.636C>G
n.627C>G
11g.46725891C>TCA5967018F2c.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
11g.46725891_46725900delinsCGCTCCGAAGCA1969071937F2c.592_601delinsCGCTCCGAAG (p.Arg198=)
c.562_571delinsCGCTCCGAAG (p.Arg188=)
n.372_381delinsCGCTCCGAAG
c.544_553delinsCGCTCCGAAG (p.Arg182=)
n.636_645delinsCGCTCCGAAG
n.627_636delinsCGCTCCGAAG
11g.46725892G>ACA5967020F2c.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
11g.46725892G>CCA380264716F2c.593G>C (p.Arg198Pro)
c.563G>C (p.Arg188Pro)
n.373G>C
c.545G>C (p.Arg182Pro)
n.637G>C
n.628G>C
11g.46725892G=CA1969071940F2c.593G= (p.Arg198=)
c.563G= (p.Arg188=)
n.373G=
c.545G= (p.Arg182=)
n.637G=
n.628G=
11g.46725892G>TCA380264717F2c.593G>T (p.Arg198Leu)
c.563G>T (p.Arg188Leu)
n.373G>T
c.545G>T (p.Arg182Leu)
n.637G>T
n.628G>T
 COSMIC
11g.46725897_46725905delCA5967019F2c.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
11g.46725893C>ACA474043388F2c.594C>A (p.Arg198=)
c.564C>A (p.Arg188=)
n.374C>A
c.546C>A (p.Arg182=)
n.638C>A
n.629C>A
11g.46725893C=CA1969071943F2c.594C= (p.Arg198=)
c.564C= (p.Arg188=)
n.374C=
c.546C= (p.Arg182=)
n.638C=
n.629C=
11g.46725893C>GCA474043391F2c.594C>G (p.Arg198=)
c.564C>G (p.Arg188=)
n.374C>G
c.546C>G (p.Arg182=)
n.638C>G
n.629C>G
11g.46725893C>TCA221651924F2c.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
11g.46725894T>ACA380264718F2c.595T>A (p.Ser199Thr)
c.565T>A (p.Ser189Thr)
n.375T>A
c.547T>A (p.Ser183Thr)
n.639T>A
n.630T>A
11g.46725894T>CCA380264719F2c.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
11g.46725894T>GCA380264720F2c.595T>G (p.Ser199Ala)
c.565T>G (p.Ser189Ala)
n.375T>G
c.547T>G (p.Ser183Ala)
n.639T>G
n.630T>G
11g.46725895C>ACA380264721F2c.596C>A (p.Ser199Tyr)
c.566C>A (p.Ser189Tyr)
n.376C>A
c.548C>A (p.Ser183Tyr)
n.640C>A
n.631C>A
11g.46725895C>GCA380264722F2c.596C>G (p.Ser199Cys)
c.566C>G (p.Ser189Cys)
n.376C>G
c.548C>G (p.Ser183Cys)
n.640C>G
n.631C>G
11g.46725895C>TCA380264723F2c.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
11g.46725896C>ACA474043407F2c.597C>A (p.Ser199=)
c.567C>A (p.Ser189=)
n.377C>A
c.549C>A (p.Ser183=)
n.641C>A
n.632C>A
11g.46725896C=CA1969071946F2c.597C= (p.Ser199=)
c.567C= (p.Ser189=)
n.377C=
c.549C= (p.Ser183=)
n.641C=
n.632C=
11g.46725896C>GCA474043409F2c.597C>G (p.Ser199=)
c.567C>G (p.Ser189=)
n.377C>G
c.549C>G (p.Ser183=)
n.641C>G
n.632C>G
11g.46725896C>TCA5967021F2c.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
11g.46725897G>ACA090909F2c.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
11g.46725897G>CCA380264725F2c.598G>C (p.Glu200Gln)
c.568G>C (p.Glu190Gln)
n.378G>C
c.550G>C (p.Glu184Gln)
n.642G>C
n.633G>C
11g.46725897G=CA1969071952F2c.598G= (p.Glu200=)
c.568G= (p.Glu190=)
n.378G=
c.550G= (p.Glu184=)
n.642G=
n.633G=
11g.46725897G>TCA380264724F2c.598G>T (p.Glu200Ter)
c.568G>T (p.Glu190Ter)
n.378G>T
c.550G>T (p.Glu184Ter)
n.642G>T
n.633G>T
11g.46725898A>CCA380264727F2c.599A>C (p.Glu200Ala)
c.569A>C (p.Glu190Ala)
n.379A>C
c.551A>C (p.Glu184Ala)
n.643A>C
n.634A>C
11g.46725898A>GCA380264731F2c.599A>G (p.Glu200Gly)
c.569A>G (p.Glu190Gly)
n.379A>G
c.551A>G (p.Glu184Gly)
n.643A>G
n.634A>G
11g.46725898A>TCA380264729F2c.599A>T (p.Glu200Val)
c.569A>T (p.Glu190Val)
n.379A>T
c.551A>T (p.Glu184Val)
n.643A>T
n.634A>T
11g.46725899A=CA1969071957F2c.600A= (p.Glu200=)
c.570A= (p.Glu190=)
n.380A=
c.552A= (p.Glu184=)
n.644A=
n.635A=
11g.46725899A>CCA380264732F2c.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
11g.46725899A>GCA474043415F2c.600A>G (p.Glu200=)
c.570A>G (p.Glu190=)
n.380A>G
c.552A>G (p.Glu184=)
n.644A>G
n.635A>G
11g.46725899A>TCA380264733F2c.600A>T (p.Glu200Asp)
c.570A>T (p.Glu190Asp)
n.380A>T
c.552A>T (p.Glu184Asp)
n.644A>T
n.635A>T
11g.46725900G>ACA380264736F2c.601G>A (p.Gly201Ser)
c.571G>A (p.Gly191Ser)
n.381G>A
c.553G>A (p.Gly185Ser)
n.645G>A
n.636G>A
11g.46725900G>CCA380264737F2c.601G>C (p.Gly201Arg)
c.571G>C (p.Gly191Arg)
n.381G>C
c.553G>C (p.Gly185Arg)
n.645G>C
n.636G>C
11g.46725900G>TCA380264739F2c.601G>T (p.Gly201Cys)
c.571G>T (p.Gly191Cys)
n.381G>T
c.553G>T (p.Gly185Cys)
n.645G>T
n.636G>T
 COSMIC
11g.46725901G>ACA380264740F2c.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
11g.46725901G>CCA380264741F2c.602G>C (p.Gly201Ala)
c.572G>C (p.Gly191Ala)
n.382G>C
c.554G>C (p.Gly185Ala)
n.646G>C
n.637G>C
 dbSNP
11g.46725901G=CA1969071959F2c.602G= (p.Gly201=)
c.572G= (p.Gly191=)
n.382G=
c.554G= (p.Gly185=)
n.646G=
n.637G=
11g.46725901G>TCA380264744F2c.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
11g.46725902C>ACA474043432F2c.603C>A (p.Gly201=)
c.573C>A (p.Gly191=)
n.383C>A
c.555C>A (p.Gly185=)
n.647C>A
n.638C>A
11g.46725902C=CA1969071962F2c.603C= (p.Gly201=)
c.573C= (p.Gly191=)
n.383C=
c.555C= (p.Gly185=)
n.647C=
n.638C=
11g.46725902C>GCA474043436F2c.603C>G (p.Gly201=)
c.573C>G (p.Gly191=)
n.383C>G
c.555C>G (p.Gly185=)
n.647C>G
n.638C>G
11g.46725902C>TCA474043435F2c.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
11g.46725903T>ACA380264745F2c.604T>A (p.Ser202Thr)
c.574T>A (p.Ser192Thr)
n.384T>A
c.556T>A (p.Ser186Thr)
n.648T>A
n.639T>A
11g.46725903T>CCA380264746F2c.604T>C (p.Ser202Pro)
c.574T>C (p.Ser192Pro)
n.384T>C
c.556T>C (p.Ser186Pro)
n.648T>C
n.639T>C
11g.46725903T>GCA380264747F2c.604T>G (p.Ser202Ala)
c.574T>G (p.Ser192Ala)
n.384T>G
c.556T>G (p.Ser186Ala)
n.648T>G
n.639T>G
11g.46725904C>ACA380264752F2c.605C>A (p.Ser202Tyr)
c.575C>A (p.Ser192Tyr)
n.385C>A
c.557C>A (p.Ser186Tyr)
n.649C>A
n.640C>A
11g.46725904C=CA1969071968F2c.605C= (p.Ser202=)
c.575C= (p.Ser192=)
n.385C=
c.557C= (p.Ser186=)
n.649C=
n.640C=
11g.46725904C>GCA380264751F2c.605C>G (p.Ser202Cys)
c.575C>G (p.Ser192Cys)
n.385C>G
c.557C>G (p.Ser186Cys)
n.649C>G
n.640C>G
11g.46725904C>TCA380264749F2c.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
11g.46725905C>ACA474043452F2c.606C>A (p.Ser202=)
c.576C>A (p.Ser192=)
n.386C>A
c.558C>A (p.Ser186=)
n.650C>A
n.641C>A
11g.46725905C=CA1969071970F2c.606C= (p.Ser202=)
c.576C= (p.Ser192=)
n.386C=
c.558C= (p.Ser186=)
n.650C=
n.641C=
11g.46725905C>GCA474043449F2c.606C>G (p.Ser202=)
c.576C>G (p.Ser192=)
n.386C>G
c.558C>G (p.Ser186=)
n.650C>G
n.641C>G
11g.46725905C>TCA5967022F2c.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
11g.46725906A=CA1969071973F2c.607A= (p.Ser203=)
c.577A= (p.Ser193=)
n.387A=
c.559A= (p.Ser187=)
n.651A=
n.642A=
11g.46725906A>CCA380264755F2c.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
11g.46725906A>GCA380264757F2c.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
11g.46725906A>TCA380264758F2c.607A>T (p.Ser203Cys)
c.577A>T (p.Ser193Cys)
n.387A>T
c.559A>T (p.Ser187Cys)
n.651A>T
n.642A>T
11g.46725907G>ACA380264761F2c.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
11g.46725907G>CCA380264762F2c.608G>C (p.Ser203Thr)
c.578G>C (p.Ser193Thr)
n.388G>C
c.560G>C (p.Ser187Thr)
n.652G>C
n.643G>C
11g.46725907G=CA1969071976F2c.608G= (p.Ser203=)
c.578G= (p.Ser193=)
n.388G=
c.560G= (p.Ser187=)
n.652G=
n.643G=
11g.46725907G>TCA380264763F2c.608G>T (p.Ser203Ile)
c.578G>T (p.Ser193Ile)
n.388G>T
c.560G>T (p.Ser187Ile)
n.652G>T
n.643G>T
11g.46725908T>ACA380264765F2c.609T>A (p.Ser203Arg)
c.579T>A (p.Ser193Arg)
n.389T>A
c.561T>A (p.Ser187Arg)
n.653T>A
n.644T>A
11g.46725908T>CCA474043465F2c.609T>C (p.Ser203=)
c.579T>C (p.Ser193=)
n.389T>C
c.561T>C (p.Ser187=)
n.653T>C
n.644T>C
11g.46725908T>GCA380264767F2c.609T>G (p.Ser203Arg)
c.579T>G (p.Ser193Arg)
n.389T>G
c.561T>G (p.Ser187Arg)
n.653T>G
n.644T>G
11g.46725909G>ACA380264768F2c.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
11g.46725909G>CCA380264770F2c.610G>C (p.Val204Leu)
c.580G>C (p.Val194Leu)
n.390G>C
c.562G>C (p.Val188Leu)
n.654G>C
n.645G>C
11g.46725909G>TCA380264771F2c.610G>T (p.Val204Leu)
c.580G>T (p.Val194Leu)
n.390G>T
c.562G>T (p.Val188Leu)
n.654G>T
n.645G>T
11g.46725910T>ACA380264776F2c.611T>A (p.Val204Glu)
c.581T>A (p.Val194Glu)
n.391T>A
c.563T>A (p.Val188Glu)
n.655T>A
n.646T>A
11g.46725910T>CCA380264774F2c.611T>C (p.Val204Ala)
c.581T>C (p.Val194Ala)
n.391T>C
c.563T>C (p.Val188Ala)
n.655T>C
n.646T>C
11g.46725910T>GCA380264773F2c.611T>G (p.Val204Gly)
c.581T>G (p.Val194Gly)
n.391T>G
c.563T>G (p.Val188Gly)
n.655T>G
n.646T>G
11g.46725911G>ACA474043483F2c.612G>A (p.Val204=)
c.582G>A (p.Val194=)
n.392G>A
c.564G>A (p.Val188=)
n.656G>A
n.647G>A
11g.46725911G>CCA474043484F2c.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
11g.46725911G>TCA474043486F2c.612G>T (p.Val204=)
c.582G>T (p.Val194=)
n.392G>T
c.564G>T (p.Val188=)
n.656G>T
n.647G>T
11g.46725912A=CA1969071979F2c.613A= (p.Asn205=)
c.583A= (p.Asn195=)
n.393A=
c.565A= (p.Asn189=)
n.657A=
n.648A=
11g.46725912A>CCA380264778F2c.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
11g.46725912A>GCA380264779F2c.613A>G (p.Asn205Asp)
c.583A>G (p.Asn195Asp)
n.393A>G
c.565A>G (p.Asn189Asp)
n.657A>G
n.648A>G
11g.46725912A>TCA380264781F2c.613A>T (p.Asn205Tyr)
c.583A>T (p.Asn195Tyr)
n.393A>T
c.565A>T (p.Asn189Tyr)
n.657A>T
n.648A>T
11g.46725913A=CA1969071982F2c.614A= (p.Asn205=)
c.584A= (p.Asn195=)
n.394A=
c.566A= (p.Asn189=)
n.658A=
n.649A=
11g.46725913A>CCA380264782F2c.614A>C (p.Asn205Thr)
c.584A>C (p.Asn195Thr)
n.394A>C
c.566A>C (p.Asn189Thr)
n.658A>C
n.649A>C
 dbSNP
11g.46725913A>GCA380264784F2c.614A>G (p.Asn205Ser)
c.584A>G (p.Asn195Ser)
n.394A>G
c.566A>G (p.Asn189Ser)
n.658A>G
n.649A>G
11g.46725913A>TCA380264785F2c.614A>T (p.Asn205Ile)
c.584A>T (p.Asn195Ile)
n.394A>T
c.566A>T (p.Asn189Ile)
n.658A>T
n.649A>T
11g.46725914T>ACA380264787F2c.615T>A (p.Asn205Lys)
c.585T>A (p.Asn195Lys)
n.395T>A
c.567T>A (p.Asn189Lys)
n.659T>A
n.650T>A
11g.46725914T>CCA474043505F2c.615T>C (p.Asn205=)
c.585T>C (p.Asn195=)
n.395T>C
c.567T>C (p.Asn189=)
n.659T>C
n.650T>C
 COSMIC
11g.46725914T>GCA380264788F2c.615T>G (p.Asn205Lys)
c.585T>G (p.Asn195Lys)
n.395T>G
c.567T>G (p.Asn189Lys)
n.659T>G
n.650T>G
11g.46725915C>ACA380264790F2c.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
11g.46725915C>GCA380264791F2c.616C>G (p.Leu206Val)
c.586C>G (p.Leu196Val)
n.396C>G
c.568C>G (p.Leu190Val)
n.660C>G
n.651C>G
11g.46725915C>TCA474043510F2c.616C>T (p.Leu206=)
c.586C>T (p.Leu196=)
n.396C>T
c.568C>T (p.Leu190=)
n.660C>T
n.651C>T
11g.46725916T>ACA380264793F2c.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
11g.46725916T>CCA380264795F2c.617T>C (p.Leu206Pro)
c.587T>C (p.Leu196Pro)
n.397T>C
c.569T>C (p.Leu190Pro)
n.661T>C
n.652T>C
11g.46725916T>GCA380264797F2c.617T>G (p.Leu206Arg)
c.587T>G (p.Leu196Arg)
n.397T>G
c.569T>G (p.Leu190Arg)
n.661T>G
n.652T>G
11g.46725917_46725918delCA645571955F2c.618_619del (p.Ser207ThrfsTer9)
c.588_589del (p.Ser197ThrfsTer9)
n.398_399del
c.570_571del (p.Ser191ThrfsTer9)
n.662_663del
n.653_654del
 COSMIC
11g.46725917G>ACA474043514F2c.618G>A (p.Leu206=)
c.588G>A (p.Leu196=)
n.398G>A
c.570G>A (p.Leu190=)
n.662G>A
n.653G>A
11g.46725917G>CCA474043516F2c.618G>C (p.Leu206=)
c.588G>C (p.Leu196=)
n.398G>C
c.570G>C (p.Leu190=)
n.662G>C
n.653G>C
11g.46725917G>TCA474043517F2c.618G>T (p.Leu206=)
c.588G>T (p.Leu196=)
n.398G>T
c.570G>T (p.Leu190=)
n.662G>T
n.653G>T
11g.46725918T>ACA380264802F2c.619T>A (p.Ser207Thr)
c.589T>A (p.Ser197Thr)
n.399T>A
c.571T>A (p.Ser191Thr)
n.663T>A
n.654T>A
11g.46725918T>CCA380264798F2c.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
11g.46725918T>GCA380264800F2c.619T>G (p.Ser207Ala)
c.589T>G (p.Ser197Ala)
n.399T>G
c.571T>G (p.Ser191Ala)
n.663T>G
n.654T>G
11g.46725919C>ACA380264803F2c.620C>A (p.Ser207Ter)
c.590C>A (p.Ser197Ter)
n.400C>A
c.572C>A (p.Ser191Ter)
n.664C>A
n.655C>A
11g.46725919C>GCA380264805F2c.620C>G (p.Ser207Ter)
c.590C>G (p.Ser197Ter)
n.400C>G
c.572C>G (p.Ser191Ter)
n.664C>G
n.655C>G
11g.46725919C>TCA380264806F2c.620C>T (p.Ser207Leu)
c.590C>T (p.Ser197Leu)
n.400C>T
c.572C>T (p.Ser191Leu)
n.664C>T
n.655C>T
11g.46725920A=CA1969071985F2c.621A= (p.Ser207=)
c.591A= (p.Ser197=)
n.401A=
c.573A= (p.Ser191=)
n.665A=
n.656A=
11g.46725920A>CCA474043520F2c.621A>C (p.Ser207=)
c.591A>C (p.Ser197=)
n.401A>C
c.573A>C (p.Ser191=)
n.665A>C
n.656A>C
 dbSNP
11g.46725920A>GCA474043521F2c.621A>G (p.Ser207=)
c.591A>G (p.Ser197=)
n.401A>G
c.573A>G (p.Ser191=)
n.665A>G
n.656A>G
11g.46725920A>TCA474043523F2c.621A>T (p.Ser207=)
c.591A>T (p.Ser197=)
n.401A>T
c.573A>T (p.Ser191=)
n.665A>T
n.656A>T
11g.46725921C>ACA380264808F2c.622C>A (p.Pro208Thr)
c.592C>A (p.Pro198Thr)
n.402C>A
c.574C>A (p.Pro192Thr)
n.666C>A
n.657C>A
11g.46725921C>GCA380264810F2c.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
11g.46725921C>TCA380264812F2c.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
11g.46725922C>ACA380264814F2c.623C>A (p.Pro208His)
c.593C>A (p.Pro198His)
n.403C>A
c.575C>A (p.Pro192His)
n.667C>A
n.658C>A
11g.46725922C>GCA380264815F2c.623C>G (p.Pro208Arg)
c.593C>G (p.Pro198Arg)
n.403C>G
c.575C>G (p.Pro192Arg)
n.667C>G
n.658C>G
11g.46725922C>TCA380264817F2c.623C>T (p.Pro208Leu)
c.593C>T (p.Pro198Leu)
n.403C>T
c.575C>T (p.Pro192Leu)
n.667C>T
n.658C>T
11g.46725923T>ACA474043533F2c.624T>A (p.Pro208=)
c.594T>A (p.Pro198=)
n.404T>A
c.576T>A (p.Pro192=)
n.668T>A
n.659T>A
11g.46725923T>CCA474043528F2c.624T>C (p.Pro208=)
c.594T>C (p.Pro198=)
n.404T>C
c.576T>C (p.Pro192=)
n.668T>C
n.659T>C
11g.46725923T>GCA474043525F2c.624T>G (p.Pro208=)
c.594T>G (p.Pro198=)
n.404T>G
c.576T>G (p.Pro192=)
n.668T>G
n.659T>G
11g.46725924C>ACA380264818F2c.625C>A (p.Pro209Thr)
c.595C>A (p.Pro199Thr)
n.405C>A
c.577C>A (p.Pro193Thr)
n.669C>A
n.660C>A
11g.46725924C=CA1969071987F2c.625C= (p.Pro209=)
c.595C= (p.Pro199=)
n.405C=
c.577C= (p.Pro193=)
n.669C=
n.660C=
11g.46725924C>GCA380264819F2c.625C>G (p.Pro209Ala)
c.595C>G (p.Pro199Ala)
n.405C>G
c.577C>G (p.Pro193Ala)
n.669C>G
n.660C>G
11g.46725924C>TCA380264822F2c.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
11g.46725925C>ACA380264824F2c.626C>A (p.Pro209Gln)
c.596C>A (p.Pro199Gln)
n.406C>A
c.578C>A (p.Pro193Gln)
n.670C>A
n.661C>A
11g.46725925C>GCA380264826F2c.626C>G (p.Pro209Arg)
c.596C>G (p.Pro199Arg)
n.406C>G
c.578C>G (p.Pro193Arg)
n.670C>G
n.661C>G
11g.46725925C>TCA380264825F2c.626C>T (p.Pro209Leu)
c.596C>T (p.Pro199Leu)
n.406C>T
c.578C>T (p.Pro193Leu)
n.670C>T
n.661C>T
 COSMIC
11g.46725926A=CA1969071994F2c.627A= (p.Pro209=)
c.597A= (p.Pro199=)
n.407A=
c.579A= (p.Pro193=)
n.671A=
n.662A=
11g.46725926A>CCA474043540F2c.627A>C (p.Pro209=)
c.597A>C (p.Pro199=)
n.407A>C
c.579A>C (p.Pro193=)
n.671A>C
n.662A>C
11g.46725926A>GCA5967023F2c.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
11g.46725926A>TCA474043543F2c.627A>T (p.Pro209=)
c.597A>T (p.Pro199=)
n.407A>T
c.579A>T (p.Pro193=)
n.671A>T
n.662A>T
11g.46725927T>ACA380264830F2c.628T>A (p.Leu210Met)
c.598T>A (p.Leu200Met)
n.408T>A
c.580T>A (p.Leu194Met)
n.672T>A
n.663T>A
11g.46725927T>CCA5967024F2c.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
11g.46725927T>GCA380264831F2c.628T>G (p.Leu210Val)
c.598T>G (p.Leu200Val)
n.408T>G
c.580T>G (p.Leu194Val)
n.672T>G
n.663T>G
11g.46725927T=CA1969071996F2c.628T= (p.Leu210=)
c.598T= (p.Leu200=)
n.408T=
c.580T= (p.Leu194=)
n.672T=
n.663T=
11g.46725928T>ACA380264832F2c.629T>A (p.Leu210Ter)
c.599T>A (p.Leu200Ter)
n.409T>A
c.581T>A (p.Leu194Ter)
n.673T>A
n.664T>A
11g.46725928T>CCA221651942F2c.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
11g.46725928T>GCA380264833F2c.629T>G (p.Leu210Trp)
c.599T>G (p.Leu200Trp)
n.409T>G
c.581T>G (p.Leu194Trp)
n.673T>G
n.664T>G
11g.46725928T=CA1969072000F2c.629T= (p.Leu210=)
c.599T= (p.Leu200=)
n.409T=
c.581T= (p.Leu194=)
n.673T=
n.664T=
11g.46725929G>ACA474043548F2c.630G>A (p.Leu210=)
c.600G>A (p.Leu200=)
n.410G>A
c.582G>A (p.Leu194=)
n.674G>A
n.665G>A
 dbSNP
11g.46725929G>CCA380264835F2c.630G>C (p.Leu210Phe)
c.600G>C (p.Leu200Phe)
n.410G>C
c.582G>C (p.Leu194Phe)
n.674G>C
n.665G>C
11g.46725929G>TCA380264837F2c.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
11g.46725930G>ACA380264838F2c.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
11g.46725930G>CCA380264839F2c.631G>C (p.Glu211Gln)
c.601G>C (p.Glu201Gln)
n.411G>C
c.583G>C (p.Glu195Gln)
n.675G>C
n.666G>C
11g.46725930G>TCA380264841F2c.631G>T (p.Glu211Ter)
c.601G>T (p.Glu201Ter)
n.411G>T
c.583G>T (p.Glu195Ter)
n.675G>T
n.666G>T
11g.46725931A>CCA380264843F2c.632A>C (p.Glu211Ala)
c.602A>C (p.Glu201Ala)
n.412A>C
c.584A>C (p.Glu195Ala)
n.676A>C
n.667A>C
11g.46725931A>GCA380264845F2c.632A>G (p.Glu211Gly)
c.602A>G (p.Glu201Gly)
n.412A>G
c.584A>G (p.Glu195Gly)
n.676A>G
n.667A>G
 dbSNP
11g.46725931A>TCA380264846F2c.632A>T (p.Glu211Val)
c.602A>T (p.Glu201Val)
n.412A>T
c.584A>T (p.Glu195Val)
n.676A>T
n.667A>T
11g.46725932G>ACA474043555F2c.633G>A (p.Glu211=)
c.603G>A (p.Glu201=)
n.413G>A
c.585G>A (p.Glu195=)
n.677G>A
n.668G>A
11g.46725932G>CCA380264847F2c.633G>C (p.Glu211Asp)
c.603G>C (p.Glu201Asp)
n.413G>C
c.585G>C (p.Glu195Asp)
n.677G>C
n.668G>C
11g.46725932G>TCA380264848F2c.633G>T (p.Glu211Asp)
c.603G>T (p.Glu201Asp)
n.413G>T
c.585G>T (p.Glu195Asp)
n.677G>T
n.668G>T
11g.46725933C>ACA380264849F2c.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
11g.46725933C=CA1969072003F2c.634C= (p.Gln212=)
c.604C= (p.Gln202=)
n.414C=
c.586C= (p.Gln196=)
n.678C=
n.669C=
11g.46725933C>GCA380264851F2c.634C>G (p.Gln212Glu)
c.604C>G (p.Gln202Glu)
n.414C>G
c.586C>G (p.Gln196Glu)
n.678C>G
n.669C>G
11g.46725933C>TCA380264852F2c.634C>T (p.Gln212Ter)
c.604C>T (p.Gln202Ter)
n.414C>T
c.586C>T (p.Gln196Ter)
n.678C>T
n.669C>T
11g.46725934A>CCA380264857F2c.635A>C (p.Gln212Pro)
c.605A>C (p.Gln202Pro)
n.415A>C
c.587A>C (p.Gln196Pro)
n.679A>C
n.670A>C
11g.46725934A>GCA380264854F2c.635A>G (p.Gln212Arg)
c.605A>G (p.Gln202Arg)
n.415A>G
c.587A>G (p.Gln196Arg)
n.679A>G
n.670A>G
11g.46725934A>TCA380264856F2c.635A>T (p.Gln212Leu)
c.605A>T (p.Gln202Leu)
n.415A>T
c.587A>T (p.Gln196Leu)
n.679A>T
n.670A>T
11g.46725935G>ACA474043562F2c.636G>A (p.Gln212=)
c.606G>A (p.Gln202=)
n.416G>A
c.588G>A (p.Gln196=)
n.680G>A
n.671G>A
11g.46725935G>CCA380264859F2c.636G>C (p.Gln212His)
c.606G>C (p.Gln202His)
n.416G>C
c.588G>C (p.Gln196His)
n.680G>C
n.671G>C
11g.46725935G>TCA380264861F2c.636G>T (p.Gln212His)
c.606G>T (p.Gln202His)
n.416G>T
c.588G>T (p.Gln196His)
n.680G>T
n.671G>T
11g.46725936T>ACA380264863F2c.637T>A (p.Cys213Ser)
c.607T>A (p.Cys203Ser)
n.417T>A
c.589T>A (p.Cys197Ser)
n.681T>A
n.672T>A
11g.46725936T>CCA380264864F2c.637T>C (p.Cys213Arg)
c.607T>C (p.Cys203Arg)
n.417T>C
c.589T>C (p.Cys197Arg)
n.681T>C
n.672T>C
11g.46725936T>GCA380264865F2c.637T>G (p.Cys213Gly)
c.607T>G (p.Cys203Gly)
n.417T>G
c.589T>G (p.Cys197Gly)
n.681T>G
n.672T>G
11g.46725937G>ACA380264866F2c.638G>A (p.Cys213Tyr)
c.608G>A (p.Cys203Tyr)
n.418G>A
c.590G>A (p.Cys197Tyr)
n.682G>A
n.673G>A
 dbSNP
11g.46725937G>CCA380264868F2c.638G>C (p.Cys213Ser)
c.608G>C (p.Cys203Ser)
n.418G>C
c.590G>C (p.Cys197Ser)
n.682G>C
n.673G>C
11g.46725937G=CA1969072007F2c.638G= (p.Cys213=)
c.608G= (p.Cys203=)
n.418G=
c.590G= (p.Cys197=)
n.682G=
n.673G=
11g.46725937G>TCA380264869F2c.638G>T (p.Cys213Phe)
c.608G>T (p.Cys203Phe)
n.418G>T
c.590G>T (p.Cys197Phe)
n.682G>T
n.673G>T
11g.46725938T>ACA380264871F2c.639T>A (p.Cys213Ter)
c.609T>A (p.Cys203Ter)
n.419T>A
c.591T>A (p.Cys197Ter)
n.683T>A
n.674T>A
11g.46725938T>CCA474043568F2c.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
11g.46725938T>GCA380264873F2c.639T>G (p.Cys213Trp)
c.609T>G (p.Cys203Trp)
n.419T>G
c.591T>G (p.Cys197Trp)
n.683T>G
n.674T>G
11g.46725939G>ACA5967025F2c.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
11g.46725939G>CCA380264880F2c.640G>C (p.Val214Leu)
c.610G>C (p.Val204Leu)
n.420G>C
c.592G>C (p.Val198Leu)
n.684G>C
n.675G>C
11g.46725939G=CA1969072016F2c.640G= (p.Val214=)
c.610G= (p.Val204=)
n.420G=
c.592G= (p.Val198=)
n.684G=
n.675G=
11g.46725939G>TCA380264875F2c.640G>T (p.Val214Phe)
c.610G>T (p.Val204Phe)
n.420G>T
c.592G>T (p.Val198Phe)
n.684G>T
n.675G>T
 dbSNP
11g.46725940T>ACA380264883F2c.641T>A (p.Val214Asp)
c.611T>A (p.Val204Asp)
n.421T>A
c.593T>A (p.Val198Asp)
n.685T>A
n.676T>A
11g.46725940T>CCA380264885F2c.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
11g.46725940T>GCA380264886F2c.641T>G (p.Val214Gly)
c.611T>G (p.Val204Gly)
n.421T>G
c.593T>G (p.Val198Gly)
n.685T>G
n.676T>G
11g.46725940T=CA1969072019F2c.641T= (p.Val214=)
c.611T= (p.Val204=)
n.421T=
c.593T= (p.Val198=)
n.685T=
n.676T=
11g.46725941C>ACA5967027F2c.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
11g.46725941C=CA1969072023F2c.642C= (p.Val214=)
c.612C= (p.Val204=)
n.422C=
c.594C= (p.Val198=)
n.686C=
n.677C=
11g.46725941C>GCA474043576F2c.642C>G (p.Val214=)
c.612C>G (p.Val204=)
n.422C>G
c.594C>G (p.Val198=)
n.686C>G
n.677C>G
11g.46725941C>TCA5967026F2c.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
11g.46725942C>ACA380264890F2c.643C>A (p.Pro215Thr)
c.613C>A (p.Pro205Thr)
n.423C>A
c.595C>A (p.Pro199Thr)
n.687C>A
n.678C>A
11g.46725942C>GCA380264891F2c.643C>G (p.Pro215Ala)
c.613C>G (p.Pro205Ala)
n.423C>G
c.595C>G (p.Pro199Ala)
n.687C>G
n.678C>G
11g.46725942C>TCA380264893F2c.643C>T (p.Pro215Ser)
c.613C>T (p.Pro205Ser)
n.423C>T
c.595C>T (p.Pro199Ser)
n.687C>T
n.678C>T
11g.46725943C>ACA380264895F2c.644C>A (p.Pro215His)
c.614C>A (p.Pro205His)
n.424C>A
c.596C>A (p.Pro199His)
n.688C>A
n.679C>A
11g.46725943C=CA1969072026F2c.644C= (p.Pro215=)
c.614C= (p.Pro205=)
n.424C=
c.596C= (p.Pro199=)
n.688C=
n.679C=
11g.46725943C>GCA5967028F2c.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
11g.46725943C>TCA380264897F2c.644C>T (p.Pro215Leu)
c.614C>T (p.Pro205Leu)
n.424C>T
c.596C>T (p.Pro199Leu)
n.688C>T
n.679C>T
11g.46725944T>ACA474043586F2c.645T>A (p.Pro215=)
c.615T>A (p.Pro205=)
n.425T>A
c.597T>A (p.Pro199=)
n.689T>A
n.680T>A
11g.46725944T>CCA474043587F2c.645T>C (p.Pro215=)
c.615T>C (p.Pro205=)
n.425T>C
c.597T>C (p.Pro199=)
n.689T>C
n.680T>C
11g.46725944T>GCA474043588F2c.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
11g.46725945G>ACA380264902F2c.646G>A (p.Asp216Asn)
c.616G>A (p.Asp206Asn)
n.426G>A
c.598G>A (p.Asp200Asn)
n.690G>A
n.681G>A
11g.46725945G>CCA380264900F2c.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
11g.46725945G=CA1969072030F2c.646G= (p.Asp216=)
c.616G= (p.Asp206=)
n.426G=
c.598G= (p.Asp200=)
n.690G=
n.681G=
11g.46725945G>TCA380264899F2c.646G>T (p.Asp216Tyr)
c.616G>T (p.Asp206Tyr)
n.426G>T
c.598G>T (p.Asp200Tyr)
n.690G>T
n.681G>T
11g.46725946A=CA1969072035F2c.647A= (p.Asp216=)
c.617A= (p.Asp206=)
n.427A=
c.599A= (p.Asp200=)
n.691A=
n.682A=
11g.46725946A>CCA380264903F2c.647A>C (p.Asp216Ala)
c.617A>C (p.Asp206Ala)
n.427A>C
c.599A>C (p.Asp200Ala)
n.691A>C
n.682A>C
11g.46725946A>GCA5967029F2c.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
11g.46725946A>TCA380264905F2c.647A>T (p.Asp216Val)
c.617A>T (p.Asp206Val)
n.427A>T
c.599A>T (p.Asp200Val)
n.691A>T
n.682A>T
11g.46725947T>ACA221651967F2c.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
11g.46725947T>CCA474043595F2c.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
11g.46725947T>GCA5967030F2c.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
11g.46725947T=CA1969072042F2c.648T= (p.Asp216=)
c.618T= (p.Asp206=)
n.428T=
c.600T= (p.Asp200=)
n.692T=
n.683T=
11g.46725948C>ACA474043601F2c.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
11g.46725948C=CA1969072046F2c.649C= (p.Arg217=)
c.619C= (p.Arg207=)
n.429C=
c.601C= (p.Arg201=)
n.693C=
n.684C=
11g.46725948C>GCA380264907F2c.649C>G (p.Arg217Gly)
c.619C>G (p.Arg207Gly)
n.429C>G
c.601C>G (p.Arg201Gly)
n.693C>G
n.684C>G
11g.46725948C>TCA5967031F2c.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
11g.46725949G>ACA5967032F2c.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
11g.46725949G>CCA380264910F2c.650G>C (p.Arg217Pro)
c.620G>C (p.Arg207Pro)
n.430G>C
c.602G>C (p.Arg201Pro)
n.694G>C
n.685G>C
11g.46725949G=CA1969072048F2c.650G= (p.Arg217=)
c.620G= (p.Arg207=)
n.430G=
c.602G= (p.Arg201=)
n.694G=
n.685G=
11g.46725949G>TCA380264911F2c.650G>T (p.Arg217Leu)
c.620G>T (p.Arg207Leu)
n.430G>T
c.602G>T (p.Arg201Leu)
n.694G>T
n.685G>T
11g.46725953dupCA2791314813F2c.654dup (p.Gln219AlafsTer?)
c.624dup (p.Gln209AlafsTer?)
n.434dup
c.606dup (p.Gln203AlafsTer?)
n.698dup
n.689dup
11g.46725950G>ACA474043608F2c.651G>A (p.Arg217=)
c.621G>A (p.Arg207=)
n.431G>A
c.603G>A (p.Arg201=)
n.695G>A
n.686G>A
 COSMIC
11g.46725950G>CCA474043609F2c.651G>C (p.Arg217=)
c.621G>C (p.Arg207=)
n.431G>C
c.603G>C (p.Arg201=)
n.695G>C
n.686G>C
11g.46725950G>TCA474043610F2c.651G>T (p.Arg217=)
c.621G>T (p.Arg207=)
n.431G>T
c.603G>T (p.Arg201=)
n.695G>T
n.686G>T
11g.46725951G>ACA380264913F2c.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
11g.46725951G>CCA380264915F2c.652G>C (p.Gly218Arg)
c.622G>C (p.Gly208Arg)
n.432G>C
c.604G>C (p.Gly202Arg)
n.696G>C
n.687G>C
11g.46725951G=CA1969072053F2c.652G= (p.Gly218=)
c.622G= (p.Gly208=)
n.432G=
c.604G= (p.Gly202=)
n.696G=
n.687G=
11g.46725951G>TCA380264916F2c.652G>T (p.Gly218Trp)
c.622G>T (p.Gly208Trp)
n.432G>T
c.604G>T (p.Gly202Trp)
n.696G>T
n.687G>T
11g.46725952G>ACA380264920F2c.653G>A (p.Gly218Glu)
c.623G>A (p.Gly208Glu)
n.433G>A
c.605G>A (p.Gly202Glu)
n.697G>A
n.688G>A
 COSMIC
11g.46725952G>CCA380264922F2c.653G>C (p.Gly218Ala)
c.623G>C (p.Gly208Ala)
n.433G>C
c.605G>C (p.Gly202Ala)
n.697G>C
n.688G>C
11g.46725952G>TCA380264918F2c.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
11g.46725953G>ACA474043619F2c.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
11g.46725953G>CCA474043621F2c.654G>C (p.Gly218=)
c.624G>C (p.Gly208=)
n.434G>C
c.606G>C (p.Gly202=)
n.698G>C
n.689G>C
11g.46725953G=CA1969072056F2c.654G= (p.Gly218=)
c.624G= (p.Gly208=)
n.434G=
c.606G= (p.Gly202=)
n.698G=
n.689G=
11g.46725953G>TCA474043622F2c.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
11g.46725954C>ACA380264927F2c.655C>A (p.Gln219Lys)
c.625C>A (p.Gln209Lys)
n.435C>A
c.607C>A (p.Gln203Lys)
n.699C>A
n.690C>A
11g.46725954C=CA1969072060F2c.655C= (p.Gln219=)
c.625C= (p.Gln209=)
n.435C=
c.607C= (p.Gln203=)
n.699C=
n.690C=
11g.46725954C>GCA380264923F2c.655C>G (p.Gln219Glu)
c.625C>G (p.Gln209Glu)
n.435C>G
c.607C>G (p.Gln203Glu)
n.699C>G
n.690C>G
11g.46725954C>TCA380264925F2c.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
11g.46725955A>CCA380264929F2c.656A>C (p.Gln219Pro)
c.626A>C (p.Gln209Pro)
n.436A>C
c.608A>C (p.Gln203Pro)
n.700A>C
n.691A>C
11g.46725955A>GCA380264930F2c.656A>G (p.Gln219Arg)
c.626A>G (p.Gln209Arg)
n.436A>G
c.608A>G (p.Gln203Arg)
n.700A>G
n.691A>G
11g.46725955A>TCA380264931F2c.656A>T (p.Gln219Leu)
c.626A>T (p.Gln209Leu)
n.436A>T
c.608A>T (p.Gln203Leu)
n.700A>T
n.691A>T
11g.46725956G>ACA474043631F2c.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
11g.46725956G>CCA380264932F2c.657G>C (p.Gln219His)
c.627G>C (p.Gln209His)
n.437G>C
c.609G>C (p.Gln203His)
n.701G>C
n.692G>C
11g.46725956G=CA1969072063F2c.657G= (p.Gln219=)
c.627G= (p.Gln209=)
n.437G=
c.609G= (p.Gln203=)
n.701G=
n.692G=
11g.46725956G>TCA380264934F2c.657G>T (p.Gln219His)
c.627G>T (p.Gln209His)
n.437G>T
c.609G>T (p.Gln203His)
n.701G>T
n.692G>T
11g.46725957C>ACA380264936F2c.658C>A (p.Gln220Lys)
c.628C>A (p.Gln210Lys)
n.438C>A
c.610C>A (p.Gln204Lys)
n.702C>A
n.693C>A
11g.46725957C>GCA380264937F2c.658C>G (p.Gln220Glu)
c.628C>G (p.Gln210Glu)
n.438C>G
c.610C>G (p.Gln204Glu)
n.702C>G
n.693C>G
11g.46725957C>TCA380264939F2c.658C>T (p.Gln220Ter)
c.628C>T (p.Gln210Ter)
n.438C>T
c.610C>T (p.Gln204Ter)
n.702C>T
n.693C>T
11g.46725958A=CA1969072066F2c.659A= (p.Gln220=)
c.629A= (p.Gln210=)
n.439A=
c.611A= (p.Gln204=)
n.703A=
n.694A=
11g.46725958A>CCA380264940F2c.659A>C (p.Gln220Pro)
c.629A>C (p.Gln210Pro)
n.439A>C
c.611A>C (p.Gln204Pro)
n.703A>C
n.694A>C
 dbSNP
11g.46725958A>GCA380264942F2c.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
11g.46725958A>TCA380264944F2c.659A>T (p.Gln220Leu)
c.629A>T (p.Gln210Leu)
n.439A>T
c.611A>T (p.Gln204Leu)
n.703A>T
n.694A>T
11g.46725959G>ACA474043639F2c.660G>A (p.Gln220=)
c.630G>A (p.Gln210=)
n.440G>A
c.612G>A (p.Gln204=)
n.704G>A
n.695G>A
 dbSNP
11g.46725959G>CCA380264947F2c.660G>C (p.Gln220His)
c.630G>C (p.Gln210His)
n.440G>C
c.612G>C (p.Gln204His)
n.704G>C
n.695G>C
 dbSNP
11g.46725959G=CA1969072074F2c.660G= (p.Gln220=)
c.630G= (p.Gln210=)
n.440G=
c.612G= (p.Gln204=)
n.704G=
n.695G=
11g.46725959G>TCA380264945F2c.660G>T (p.Gln220His)
c.630G>T (p.Gln210His)
n.440G>T
c.612G>T (p.Gln204His)
n.704G>T
n.695G>T
11g.46725960T>ACA380264948F2c.661T>A (p.Tyr221Asn)
c.631T>A (p.Tyr211Asn)
n.441T>A
c.613T>A (p.Tyr205Asn)
n.705T>A
n.696T>A
11g.46725960T>CCA380264949F2c.661T>C (p.Tyr221His)
c.631T>C (p.Tyr211His)
n.441T>C
c.613T>C (p.Tyr205His)
n.705T>C
n.696T>C
11g.46725960T>GCA380264950F2c.661T>G (p.Tyr221Asp)
c.631T>G (p.Tyr211Asp)
n.441T>G
c.613T>G (p.Tyr205Asp)
n.705T>G
n.696T>G

Number of alleles fetched