Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
11g.46725961A>CCA380264952F2c.662A>C (p.Tyr221Ser)
c.632A>C (p.Tyr211Ser)
n.442A>C
c.614A>C (p.Tyr205Ser)
n.706A>C
n.697A>C
11g.46725961A>GCA380264953F2c.662A>G (p.Tyr221Cys)
c.632A>G (p.Tyr211Cys)
n.442A>G
c.614A>G (p.Tyr205Cys)
n.706A>G
n.697A>G
11g.46725961A>TCA380264954F2c.662A>T (p.Tyr221Phe)
c.632A>T (p.Tyr211Phe)
n.442A>T
c.614A>T (p.Tyr205Phe)
n.706A>T
n.697A>T
11g.46725962C>ACA380264956F2c.663C>A (p.Tyr221Ter)
c.633C>A (p.Tyr211Ter)
n.443C>A
c.615C>A (p.Tyr205Ter)
n.707C>A
n.698C>A
11g.46725962C>GCA380264957F2c.663C>G (p.Tyr221Ter)
c.633C>G (p.Tyr211Ter)
n.443C>G
c.615C>G (p.Tyr205Ter)
n.707C>G
n.698C>G
11g.46725962C>TCA474043644F2c.663C>T (p.Tyr221=)
c.633C>T (p.Tyr211=)
n.443C>T
c.615C>T (p.Tyr205=)
n.707C>T
n.698C>T
11g.46725963C>ACA380264958F2c.664C>A (p.Gln222Lys)
c.634C>A (p.Gln212Lys)
n.444C>A
c.616C>A (p.Gln206Lys)
n.708C>A
n.699C>A
11g.46725963C>GCA380264959F2c.664C>G (p.Gln222Glu)
c.634C>G (p.Gln212Glu)
n.444C>G
c.616C>G (p.Gln206Glu)
n.708C>G
n.699C>G
11g.46725963C>TCA380264960F2c.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
11g.46725964delCA2574810795F2c.665del (p.Gln222ArgfsTer6)
c.635del (p.Gln212ArgfsTer6)
n.445del
c.617del (p.Gln206ArgfsTer6)
n.709del
n.700del
11g.46725964A>CCA380264963F2c.665A>C (p.Gln222Pro)
c.635A>C (p.Gln212Pro)
n.445A>C
c.617A>C (p.Gln206Pro)
n.709A>C
n.700A>C
11g.46725964A>GCA380264964F2c.665A>G (p.Gln222Arg)
c.635A>G (p.Gln212Arg)
n.445A>G
c.617A>G (p.Gln206Arg)
n.709A>G
n.700A>G
11g.46725964A>TCA380264965F2c.665A>T (p.Gln222Leu)
c.635A>T (p.Gln212Leu)
n.445A>T
c.617A>T (p.Gln206Leu)
n.709A>T
n.700A>T
11g.46725965G>ACA474043646F2c.666G>A (p.Gln222=)
c.636G>A (p.Gln212=)
n.446G>A
c.618G>A (p.Gln206=)
n.710G>A
n.701G>A
11g.46725965G>CCA380264967F2c.666G>C (p.Gln222His)
c.636G>C (p.Gln212His)
n.446G>C
c.618G>C (p.Gln206His)
n.710G>C
n.701G>C
11g.46725965G>TCA380264969F2c.666G>T (p.Gln222His)
c.636G>T (p.Gln212His)
n.446G>T
c.618G>T (p.Gln206His)
n.710G>T
n.701G>T
11g.46725966G>ACA380264971F2c.667G>A (p.Gly223Arg)
c.637G>A (p.Gly213Arg)
n.447G>A
c.619G>A (p.Gly207Arg)
n.711G>A
n.702G>A
11g.46725966G>CCA380264972F2c.667G>C (p.Gly223Arg)
c.637G>C (p.Gly213Arg)
n.447G>C
c.619G>C (p.Gly207Arg)
n.711G>C
n.702G>C
11g.46725966G>TCA380264973F2c.667G>T (p.Gly223Trp)
c.637G>T (p.Gly213Trp)
n.447G>T
c.619G>T (p.Gly207Trp)
n.711G>T
n.702G>T
11g.46725967G>ACA380264974F2c.668G>A (p.Gly223Glu)
c.638G>A (p.Gly213Glu)
n.448G>A
c.620G>A (p.Gly207Glu)
n.712G>A
n.703G>A
11g.46725967G>CCA380264975F2c.668G>C (p.Gly223Ala)
c.638G>C (p.Gly213Ala)
n.448G>C
c.620G>C (p.Gly207Ala)
n.712G>C
n.703G>C
11g.46725967G>TCA380264977F2c.668G>T (p.Gly223Val)
c.638G>T (p.Gly213Val)
n.448G>T
c.620G>T (p.Gly207Val)
n.712G>T
n.703G>T
11g.46725968G>ACA221652005F2c.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
11g.46725968G>CCA474043655F2c.669G>C (p.Gly223=)
c.639G>C (p.Gly213=)
n.449G>C
c.621G>C (p.Gly207=)
n.713G>C
n.704G>C
11g.46725968G=CA1969072077F2c.669G= (p.Gly223=)
c.639G= (p.Gly213=)
n.449G=
c.621G= (p.Gly207=)
n.713G=
n.704G=
11g.46725968G>TCA474043653F2c.669G>T (p.Gly223=)
c.639G>T (p.Gly213=)
n.449G>T
c.621G>T (p.Gly207=)
n.713G>T
n.704G>T
11g.46725969C>ACA380264979F2c.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
11g.46725969C=CA1969072081F2c.670C= (p.Arg224=)
c.640C= (p.Arg214=)
n.450C=
c.622C= (p.Arg208=)
n.714C=
n.705C=
11g.46725969C>GCA380264981F2c.670C>G (p.Arg224Gly)
c.640C>G (p.Arg214Gly)
n.450C>G
c.622C>G (p.Arg208Gly)
n.714C>G
n.705C>G
 dbSNP
11g.46725969C>TCA5967033F2c.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
11g.46725970G>ACA5967034F2c.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
11g.46725970G>CCA380264983F2c.671G>C (p.Arg224Pro)
c.641G>C (p.Arg214Pro)
n.451G>C
c.623G>C (p.Arg208Pro)
n.715G>C
n.706G>C
11g.46725970G=CA1969072086F2c.671G= (p.Arg224=)
c.641G= (p.Arg214=)
n.451G=
c.623G= (p.Arg208=)
n.715G=
n.706G=
11g.46725970G>TCA380264985F2c.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
11g.46725971C>ACA474043659F2c.672C>A (p.Arg224=)
c.642C>A (p.Arg214=)
n.452C>A
c.624C>A (p.Arg208=)
n.716C>A
n.707C>A
11g.46725971C=CA1969072092F2c.672C= (p.Arg224=)
c.642C= (p.Arg214=)
n.452C=
c.624C= (p.Arg208=)
n.716C=
n.707C=
11g.46725971C>GCA474043660F2c.672C>G (p.Arg224=)
c.642C>G (p.Arg214=)
n.452C>G
c.624C>G (p.Arg208=)
n.716C>G
n.707C>G
11g.46725971C>TCA5967035F2c.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
11g.46725972C>ACA380264989F2c.673C>A (p.Leu225Met)
c.643C>A (p.Leu215Met)
n.453C>A
c.625C>A (p.Leu209Met)
n.717C>A
n.708C>A
11g.46725972C>GCA380264988F2c.673C>G (p.Leu225Val)
c.643C>G (p.Leu215Val)
n.453C>G
c.625C>G (p.Leu209Val)
n.717C>G
n.708C>G
11g.46725972C>TCA474043663F2c.673C>T (p.Leu225=)
c.643C>T (p.Leu215=)
n.453C>T
c.625C>T (p.Leu209=)
n.717C>T
n.708C>T
11g.46725973T>ACA380264991F2c.674T>A (p.Leu225Gln)
c.644T>A (p.Leu215Gln)
n.454T>A
c.626T>A (p.Leu209Gln)
n.718T>A
n.709T>A
11g.46725973T>CCA380264993F2c.674T>C (p.Leu225Pro)
c.644T>C (p.Leu215Pro)
n.454T>C
c.626T>C (p.Leu209Pro)
n.718T>C
n.709T>C
11g.46725973T>GCA380264995F2c.674T>G (p.Leu225Arg)
c.644T>G (p.Leu215Arg)
n.454T>G
c.626T>G (p.Leu209Arg)
n.718T>G
n.709T>G
11g.46725974G>ACA474043664F2c.675G>A (p.Leu225=)
c.645G>A (p.Leu215=)
n.455G>A
c.627G>A (p.Leu209=)
n.719G>A
n.710G>A
11g.46725974G>CCA5967036F2c.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
11g.46725974G=CA1969072094F2c.675G= (p.Leu225=)
c.645G= (p.Leu215=)
n.455G=
c.627G= (p.Leu209=)
n.719G=
n.710G=
11g.46725974G>TCA474043668F2c.675G>T (p.Leu225=)
c.645G>T (p.Leu215=)
n.455G>T
c.627G>T (p.Leu209=)
n.719G>T
n.710G>T
11g.46725975G>ACA380264996F2c.676G>A (p.Ala226Thr)
c.646G>A (p.Ala216Thr)
n.456G>A
c.628G>A (p.Ala210Thr)
n.720G>A
n.711G>A
 dbSNP
11g.46725975G>CCA380264997F2c.676G>C (p.Ala226Pro)
c.646G>C (p.Ala216Pro)
n.456G>C
c.628G>C (p.Ala210Pro)
n.720G>C
n.711G>C
11g.46725975G=CA1969072100F2c.676G= (p.Ala226=)
c.646G= (p.Ala216=)
n.456G=
c.628G= (p.Ala210=)
n.720G=
n.711G=
11g.46725975G>TCA380264998F2c.676G>T (p.Ala226Ser)
c.646G>T (p.Ala216Ser)
n.456G>T
c.628G>T (p.Ala210Ser)
n.720G>T
n.711G>T
11g.46725976C>ACA380264999F2c.677C>A (p.Ala226Glu)
c.647C>A (p.Ala216Glu)
n.457C>A
c.629C>A (p.Ala210Glu)
n.721C>A
n.712C>A
11g.46725976C=CA1969072103F2c.677C= (p.Ala226=)
c.647C= (p.Ala216=)
n.457C=
c.629C= (p.Ala210=)
n.721C=
n.712C=
11g.46725976C>GCA380265000F2c.677C>G (p.Ala226Gly)
c.647C>G (p.Ala216Gly)
n.457C>G
c.629C>G (p.Ala210Gly)
n.721C>G
n.712C>G
11g.46725976C>TCA380265001F2c.677C>T (p.Ala226Val)
c.647C>T (p.Ala216Val)
n.457C>T
c.629C>T (p.Ala210Val)
n.721C>T
n.712C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.46725977G>ACA5967037F2c.678G>A (p.Ala226=)
c.648G>A (p.Ala216=)
n.458G>A
c.630G>A (p.Ala210=)
n.722G>A
n.713G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46725977G>CCA474043674F2c.678G>C (p.Ala226=)
c.648G>C (p.Ala216=)
n.458G>C
c.630G>C (p.Ala210=)
n.722G>C
n.713G>C
11g.46725977G=CA1969072106F2c.678G= (p.Ala226=)
c.648G= (p.Ala216=)
n.458G=
c.630G= (p.Ala210=)
n.722G=
n.713G=
11g.46725977G>TCA474043673F2c.678G>T (p.Ala226=)
c.648G>T (p.Ala216=)
n.458G>T
c.630G>T (p.Ala210=)
n.722G>T
n.713G>T
 dbSNP gnomAD v2 gnomAD v4
11g.46725978G>ACA380265004F2c.679G>A (p.Val227Met)
c.649G>A (p.Val217Met)
n.459G>A
c.631G>A (p.Val211Met)
n.723G>A
n.714G>A
 gnomAD v4
11g.46725978G>CCA380265006F2c.679G>C (p.Val227Leu)
c.649G>C (p.Val217Leu)
n.459G>C
c.631G>C (p.Val211Leu)
n.723G>C
n.714G>C
11g.46725978G>TCA380265007F2c.679G>T (p.Val227Leu)
c.649G>T (p.Val217Leu)
n.459G>T
c.631G>T (p.Val211Leu)
n.723G>T
n.714G>T
11g.46725979T>ACA380265012F2c.680T>A (p.Val227Glu)
c.650T>A (p.Val217Glu)
n.460T>A
c.632T>A (p.Val211Glu)
n.724T>A
n.715T>A
 gnomAD v4
11g.46725979T>CCA5967038F2c.680T>C (p.Val227Ala)
c.650T>C (p.Val217Ala)
n.460T>C
c.632T>C (p.Val211Ala)
n.724T>C
n.715T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46725979T>GCA380265009F2c.680T>G (p.Val227Gly)
c.650T>G (p.Val217Gly)
n.460T>G
c.632T>G (p.Val211Gly)
n.724T>G
n.715T>G
11g.46725979T=CA1969072109F2c.680T= (p.Val227=)
c.650T= (p.Val217=)
n.460T=
c.632T= (p.Val211=)
n.724T=
n.715T=
11g.46725980G>ACA474043679F2c.681G>A (p.Val227=)
c.651G>A (p.Val217=)
n.461G>A
c.633G>A (p.Val211=)
n.725G>A
n.716G>A
11g.46725980G>CCA474043680F2c.681G>C (p.Val227=)
c.651G>C (p.Val217=)
n.461G>C
c.633G>C (p.Val211=)
n.725G>C
n.716G>C
11g.46725980G=CA1969072112F2c.681G= (p.Val227=)
c.651G= (p.Val217=)
n.461G=
c.633G= (p.Val211=)
n.725G=
n.716G=
11g.46725980G>TCA5967039F2c.681G>T (p.Val227=)
c.651G>T (p.Val217=)
n.461G>T
c.633G>T (p.Val211=)
n.725G>T
n.716G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46725981A>CCA380265014F2c.682A>C (p.Thr228Pro)
c.652A>C (p.Thr218Pro)
n.462A>C
c.634A>C (p.Thr212Pro)
n.726A>C
n.717A>C
11g.46725981A>GCA380265017F2c.682A>G (p.Thr228Ala)
c.652A>G (p.Thr218Ala)
n.462A>G
c.634A>G (p.Thr212Ala)
n.726A>G
n.717A>G
11g.46725981A>TCA380265016F2c.682A>T (p.Thr228Ser)
c.652A>T (p.Thr218Ser)
n.462A>T
c.634A>T (p.Thr212Ser)
n.726A>T
n.717A>T
11g.46725982C>ACA380265019F2c.683C>A (p.Thr228Asn)
c.653C>A (p.Thr218Asn)
n.463C>A
c.635C>A (p.Thr212Asn)
n.727C>A
n.718C>A
11g.46725982C=CA1969072116F2c.683C= (p.Thr228=)
c.653C= (p.Thr218=)
n.463C=
c.635C= (p.Thr212=)
n.727C=
n.718C=
11g.46725982C>GCA380265022F2c.683C>G (p.Thr228Ser)
c.653C>G (p.Thr218Ser)
n.463C>G
c.635C>G (p.Thr212Ser)
n.727C>G
n.718C>G
 gnomAD v4
11g.46725982C>TCA380265020F2c.683C>T (p.Thr228Ile)
c.653C>T (p.Thr218Ile)
n.463C>T
c.635C>T (p.Thr212Ile)
n.727C>T
n.718C>T
 dbSNP gnomAD v2
11g.46725983C>ACA474043689F2c.684C>A (p.Thr228=)
c.654C>A (p.Thr218=)
n.464C>A
c.636C>A (p.Thr212=)
n.728C>A
n.719C>A
11g.46725983C>GCA474043690F2c.684C>G (p.Thr228=)
c.654C>G (p.Thr218=)
n.464C>G
c.636C>G (p.Thr212=)
n.728C>G
n.719C>G
11g.46725983C>TCA474043692F2c.684C>T (p.Thr228=)
c.654C>T (p.Thr218=)
n.464C>T
c.636C>T (p.Thr212=)
n.728C>T
n.719C>T
 COSMIC
11g.46725984A>CCA380265023F2c.685A>C (p.Thr229Pro)
c.655A>C (p.Thr219Pro)
n.465A>C
c.637A>C (p.Thr213Pro)
n.729A>C
n.720A>C
11g.46725984A>GCA380265024F2c.685A>G (p.Thr229Ala)
c.655A>G (p.Thr219Ala)
n.465A>G
c.637A>G (p.Thr213Ala)
n.729A>G
n.720A>G
11g.46725984A>TCA380265026F2c.685A>T (p.Thr229Ser)
c.655A>T (p.Thr219Ser)
n.465A>T
c.637A>T (p.Thr213Ser)
n.729A>T
n.720A>T
11g.46725985C>ACA380265027F2c.686C>A (p.Thr229Lys)
c.656C>A (p.Thr219Lys)
n.466C>A
c.638C>A (p.Thr213Lys)
n.730C>A
n.721C>A
11g.46725985C>GCA380265029F2c.686C>G (p.Thr229Arg)
c.656C>G (p.Thr219Arg)
n.466C>G
c.638C>G (p.Thr213Arg)
n.730C>G
n.721C>G
11g.46725985C>TCA380265031F2c.686C>T (p.Thr229Ile)
c.656C>T (p.Thr219Ile)
n.466C>T
c.638C>T (p.Thr213Ile)
n.730C>T
n.721C>T
11g.46725986A>CCA474043696F2c.687A>C (p.Thr229=)
c.657A>C (p.Thr219=)
n.467A>C
c.639A>C (p.Thr213=)
n.731A>C
n.722A>C
11g.46725986A>GCA474043697F2c.687A>G (p.Thr229=)
c.657A>G (p.Thr219=)
n.467A>G
c.639A>G (p.Thr213=)
n.731A>G
n.722A>G
11g.46725986A>TCA474043698F2c.687A>T (p.Thr229=)
c.657A>T (p.Thr219=)
n.467A>T
c.639A>T (p.Thr213=)
n.731A>T
n.722A>T
11g.46725987C>ACA380265033F2c.688C>A (p.His230Asn)
c.658C>A (p.His220Asn)
n.468C>A
c.640C>A (p.His214Asn)
n.732C>A
n.723C>A
11g.46725987C>GCA380265034F2c.688C>G (p.His230Asp)
c.658C>G (p.His220Asp)
n.468C>G
c.640C>G (p.His214Asp)
n.732C>G
n.723C>G
11g.46725987C>TCA380265037F2c.688C>T (p.His230Tyr)
c.658C>T (p.His220Tyr)
n.468C>T
c.640C>T (p.His214Tyr)
n.732C>T
n.723C>T
11g.46725988A>CCA380265042F2c.689A>C (p.His230Pro)
c.659A>C (p.His220Pro)
n.469A>C
c.641A>C (p.His214Pro)
n.733A>C
n.724A>C
11g.46725988A>GCA380265041F2c.689A>G (p.His230Arg)
c.659A>G (p.His220Arg)
n.469A>G
c.641A>G (p.His214Arg)
n.733A>G
n.724A>G
 ClinVar gnomAD v4
11g.46725988A>TCA380265038F2c.689A>T (p.His230Leu)
c.659A>T (p.His220Leu)
n.469A>T
c.641A>T (p.His214Leu)
n.733A>T
n.724A>T
11g.46725988_46725990delCA2613334506F2c.689_691del (p.His230_Gly231delinsArg)
c.659_661del (p.His220_Gly221delinsArg)
n.469_471del
c.641_643del (p.His214_Gly215delinsArg)
n.733_735del
n.724_726del
 gnomAD v4
11g.46725989T>ACA380265045F2c.690T>A (p.His230Gln)
c.660T>A (p.His220Gln)
n.470T>A
c.642T>A (p.His214Gln)
n.734T>A
n.725T>A
11g.46725989T>CCA474043703F2c.690T>C (p.His230=)
c.660T>C (p.His220=)
n.470T>C
c.642T>C (p.His214=)
n.734T>C
n.725T>C
11g.46725989T>GCA380265046F2c.690T>G (p.His230Gln)
c.660T>G (p.His220Gln)
n.470T>G
c.642T>G (p.His214Gln)
n.734T>G
n.725T>G
11g.46725990G>ACA380265050F2c.691G>A (p.Gly231Arg)
c.661G>A (p.Gly221Arg)
n.471G>A
c.643G>A (p.Gly215Arg)
n.735G>A
n.726G>A
 gnomAD v4
11g.46725990G>CCA380265051F2c.691G>C (p.Gly231Arg)
c.661G>C (p.Gly221Arg)
n.471G>C
c.643G>C (p.Gly215Arg)
n.735G>C
n.726G>C
11g.46725990G>TCA380265053F2c.691G>T (p.Gly231Trp)
c.661G>T (p.Gly221Trp)
n.471G>T
c.643G>T (p.Gly215Trp)
n.735G>T
n.726G>T
11g.46725991G>ACA380265055F2c.692G>A (p.Gly231Glu)
c.662G>A (p.Gly221Glu)
n.472G>A
c.644G>A (p.Gly215Glu)
n.736G>A
n.727G>A
 gnomAD v4 COSMIC
11g.46725991G>CCA380265056F2c.692G>C (p.Gly231Ala)
c.662G>C (p.Gly221Ala)
n.472G>C
c.644G>C (p.Gly215Ala)
n.736G>C
n.727G>C
 gnomAD v4
11g.46725991G>TCA380265057F2c.692G>T (p.Gly231Val)
c.662G>T (p.Gly221Val)
n.472G>T
c.644G>T (p.Gly215Val)
n.736G>T
n.727G>T
11g.46725992G>ACA474043708F2c.693G>A (p.Gly231=)
c.663G>A (p.Gly221=)
n.473G>A
c.645G>A (p.Gly215=)
n.737G>A
n.728G>A
 gnomAD v4
11g.46725992G>CCA474043709F2c.693G>C (p.Gly231=)
c.663G>C (p.Gly221=)
n.473G>C
c.645G>C (p.Gly215=)
n.737G>C
n.728G>C
11g.46725992G=CA1969072121F2c.693G= (p.Gly231=)
c.663G= (p.Gly221=)
n.473G=
c.645G= (p.Gly215=)
n.737G=
n.728G=
11g.46725992G>TCA474043710F2c.693G>T (p.Gly231=)
c.663G>T (p.Gly221=)
n.473G>T
c.645G>T (p.Gly215=)
n.737G>T
n.728G>T
 dbSNP gnomAD v4
11g.46725993C>ACA380265058F2c.694C>A (p.Leu232Ile)
c.664C>A (p.Leu222Ile)
n.474C>A
c.646C>A (p.Leu216Ile)
n.738C>A
n.729C>A
11g.46725993C=CA1969072124F2c.694C= (p.Leu232=)
c.664C= (p.Leu222=)
n.474C=
c.646C= (p.Leu216=)
n.738C=
n.729C=
11g.46725993C>GCA380265060F2c.694C>G (p.Leu232Val)
c.664C>G (p.Leu222Val)
n.474C>G
c.646C>G (p.Leu216Val)
n.738C>G
n.729C>G
11g.46725993C>TCA380265061F2c.694C>T (p.Leu232Phe)
c.664C>T (p.Leu222Phe)
n.474C>T
c.646C>T (p.Leu216Phe)
n.738C>T
n.729C>T
 dbSNP gnomAD v4
11g.46725994T>ACA380265066F2c.695T>A (p.Leu232His)
c.665T>A (p.Leu222His)
n.475T>A
c.647T>A (p.Leu216His)
n.739T>A
n.730T>A
 ClinVar gnomAD v4
11g.46725994T>CCA380265068F2c.695T>C (p.Leu232Pro)
c.665T>C (p.Leu222Pro)
n.475T>C
c.647T>C (p.Leu216Pro)
n.739T>C
n.730T>C
 gnomAD v4
11g.46725994T>GCA380265063F2c.695T>G (p.Leu232Arg)
c.665T>G (p.Leu222Arg)
n.475T>G
c.647T>G (p.Leu216Arg)
n.739T>G
n.730T>G
11g.46725995C>ACA474043712F2c.696C>A (p.Leu232=)
c.666C>A (p.Leu222=)
n.476C>A
c.648C>A (p.Leu216=)
n.740C>A
n.731C>A
11g.46725995C>GCA474043713F2c.696C>G (p.Leu232=)
c.666C>G (p.Leu222=)
n.476C>G
c.648C>G (p.Leu216=)
n.740C>G
n.731C>G
11g.46725995C>TCA474043714F2c.696C>T (p.Leu232=)
c.666C>T (p.Leu222=)
n.476C>T
c.648C>T (p.Leu216=)
n.740C>T
n.731C>T
 ClinVar gnomAD v4
11g.46725998delCA2613334515F2c.699del (p.Cys234AlafsTer12)
c.669del (p.Cys224AlafsTer12)
n.479del
c.651del (p.Cys218AlafsTer12)
n.743del
n.734del
 gnomAD v4
11g.46725995_46725996insACA2613334519F2c.696_697insA (p.Pro233ThrfsTer?)
c.666_667insA (p.Pro223ThrfsTer?)
n.476_477insA
c.648_649insA (p.Pro217ThrfsTer?)
n.740_741insA
n.731_732insA
 gnomAD v4
11g.46725996C>ACA5967040F2c.697C>A (p.Pro233Thr)
c.667C>A (p.Pro223Thr)
n.477C>A
c.649C>A (p.Pro217Thr)
n.741C>A
n.732C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46725996C=CA1969072127F2c.697C= (p.Pro233=)
c.667C= (p.Pro223=)
n.477C=
c.649C= (p.Pro217=)
n.741C=
n.732C=
11g.46725996C>GCA380265071F2c.697C>G (p.Pro233Ala)
c.667C>G (p.Pro223Ala)
n.477C>G
c.649C>G (p.Pro217Ala)
n.741C>G
n.732C>G
11g.46725996C>TCA380265073F2c.697C>T (p.Pro233Ser)
c.667C>T (p.Pro223Ser)
n.477C>T
c.649C>T (p.Pro217Ser)
n.741C>T
n.732C>T
 gnomAD v4
11g.46725997C>ACA380265075F2c.698C>A (p.Pro233His)
c.668C>A (p.Pro223His)
n.478C>A
c.650C>A (p.Pro217His)
n.742C>A
n.733C>A
11g.46725997C=CA1969072130F2c.698C= (p.Pro233=)
c.668C= (p.Pro223=)
n.478C=
c.650C= (p.Pro217=)
n.742C=
n.733C=
11g.46725997C>GCA380265078F2c.698C>G (p.Pro233Arg)
c.668C>G (p.Pro223Arg)
n.478C>G
c.650C>G (p.Pro217Arg)
n.742C>G
n.733C>G
11g.46725997C>TCA380265080F2c.698C>T (p.Pro233Leu)
c.668C>T (p.Pro223Leu)
n.478C>T
c.650C>T (p.Pro217Leu)
n.742C>T
n.733C>T
 dbSNP gnomAD v3 gnomAD v4
11g.46725998C>ACA474043715F2c.699C>A (p.Pro233=)
c.669C>A (p.Pro223=)
n.479C>A
c.651C>A (p.Pro217=)
n.743C>A
n.734C>A
11g.46725998C=CA1969072133F2c.699C= (p.Pro233=)
c.669C= (p.Pro223=)
n.479C=
c.651C= (p.Pro217=)
n.743C=
n.734C=
11g.46725998C>GCA474043717F2c.699C>G (p.Pro233=)
c.669C>G (p.Pro223=)
n.479C>G
c.651C>G (p.Pro217=)
n.743C>G
n.734C>G
11g.46725998C>TCA474043716F2c.699C>T (p.Pro233=)
c.669C>T (p.Pro223=)
n.479C>T
c.651C>T (p.Pro217=)
n.743C>T
n.734C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.46725999T>ACA380265082F2c.700T>A (p.Cys234Ser)
c.670T>A (p.Cys224Ser)
n.480T>A
c.652T>A (p.Cys218Ser)
n.744T>A
n.735T>A
11g.46725999T>CCA380265085F2c.700T>C (p.Cys234Arg)
c.670T>C (p.Cys224Arg)
n.480T>C
c.652T>C (p.Cys218Arg)
n.744T>C
n.735T>C
11g.46725999T>GCA380265086F2c.700T>G (p.Cys234Gly)
c.670T>G (p.Cys224Gly)
n.480T>G
c.652T>G (p.Cys218Gly)
n.744T>G
n.735T>G
11g.46726000G>ACA380265089F2c.701G>A (p.Cys234Tyr)
c.671G>A (p.Cys224Tyr)
n.481G>A
c.653G>A (p.Cys218Tyr)
n.745G>A
n.736G>A
11g.46726000G>CCA380265090F2c.701G>C (p.Cys234Ser)
c.671G>C (p.Cys224Ser)
n.481G>C
c.653G>C (p.Cys218Ser)
n.745G>C
n.736G>C
11g.46726000G>TCA380265091F2c.701G>T (p.Cys234Phe)
c.671G>T (p.Cys224Phe)
n.481G>T
c.653G>T (p.Cys218Phe)
n.745G>T
n.736G>T
11g.46726001C>ACA380265096F2c.702C>A (p.Cys234Ter)
c.672C>A (p.Cys224Ter)
n.482C>A
c.654C>A (p.Cys218Ter)
n.746C>A
n.737C>A
11g.46726001C>GCA380265094F2c.702C>G (p.Cys234Trp)
c.672C>G (p.Cys224Trp)
n.482C>G
c.654C>G (p.Cys218Trp)
n.746C>G
n.737C>G
11g.46726001C>TCA474043720F2c.702C>T (p.Cys234=)
c.672C>T (p.Cys224=)
n.482C>T
c.654C>T (p.Cys218=)
n.746C>T
n.737C>T
11g.46726002C>ACA380265099F2c.703C>A (p.Leu235Met)
c.673C>A (p.Leu225Met)
n.483C>A
c.655C>A (p.Leu219Met)
n.747C>A
n.738C>A
11g.46726002C=CA1969072137F2c.703C= (p.Leu235=)
c.673C= (p.Leu225=)
n.483C=
c.655C= (p.Leu219=)
n.747C=
n.738C=
11g.46726002C>GCA380265101F2c.703C>G (p.Leu235Val)
c.673C>G (p.Leu225Val)
n.483C>G
c.655C>G (p.Leu219Val)
n.747C>G
n.738C>G
11g.46726002C>TCA474043721F2c.703C>T (p.Leu235=)
c.673C>T (p.Leu225=)
n.483C>T
c.655C>T (p.Leu219=)
n.747C>T
n.738C>T
 dbSNP gnomAD v2 gnomAD v4
11g.46726003T>ACA380265104F2c.704T>A (p.Leu235Gln)
c.674T>A (p.Leu225Gln)
n.484T>A
c.656T>A (p.Leu219Gln)
n.748T>A
n.739T>A
11g.46726003T>CCA380265107F2c.704T>C (p.Leu235Pro)
c.674T>C (p.Leu225Pro)
n.484T>C
c.656T>C (p.Leu219Pro)
n.748T>C
n.739T>C
11g.46726003T>GCA380265109F2c.704T>G (p.Leu235Arg)
c.674T>G (p.Leu225Arg)
n.484T>G
c.656T>G (p.Leu219Arg)
n.748T>G
n.739T>G
11g.46726004G>ACA474043723F2c.705G>A (p.Leu235=)
c.675G>A (p.Leu225=)
n.485G>A
c.657G>A (p.Leu219=)
n.749G>A
n.740G>A
11g.46726004G>CCA474043724F2c.705G>C (p.Leu235=)
c.675G>C (p.Leu225=)
n.485G>C
c.657G>C (p.Leu219=)
n.749G>C
n.740G>C
11g.46726004G>TCA474043725F2c.705G>T (p.Leu235=)
c.675G>T (p.Leu225=)
n.485G>T
c.657G>T (p.Leu219=)
n.749G>T
n.740G>T
11g.46726005G>ACA5967041F2c.706G>A (p.Ala236Thr)
c.676G>A (p.Ala226Thr)
n.486G>A
c.658G>A (p.Ala220Thr)
n.750G>A
n.741G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726005G>CCA380265112F2c.706G>C (p.Ala236Pro)
c.676G>C (p.Ala226Pro)
n.486G>C
c.658G>C (p.Ala220Pro)
n.750G>C
n.741G>C
11g.46726005G=CA1969072142F2c.706G= (p.Ala236=)
c.676G= (p.Ala226=)
n.486G=
c.658G= (p.Ala220=)
n.750G=
n.741G=
11g.46726005G>TCA380265115F2c.706G>T (p.Ala236Ser)
c.676G>T (p.Ala226Ser)
n.486G>T
c.658G>T (p.Ala220Ser)
n.750G>T
n.741G>T
 gnomAD v4
11g.46726006C>ACA380265116F2c.707C>A (p.Ala236Asp)
c.677C>A (p.Ala226Asp)
n.487C>A
c.659C>A (p.Ala220Asp)
n.751C>A
n.742C>A
11g.46726006C>GCA380265118F2c.707C>G (p.Ala236Gly)
c.677C>G (p.Ala226Gly)
n.487C>G
c.659C>G (p.Ala220Gly)
n.751C>G
n.742C>G
11g.46726006C>TCA380265119F2c.707C>T (p.Ala236Val)
c.677C>T (p.Ala226Val)
n.487C>T
c.659C>T (p.Ala220Val)
n.751C>T
n.742C>T
11g.46726007C>ACA474043726F2c.708C>A (p.Ala236=)
c.678C>A (p.Ala226=)
n.488C>A
c.660C>A (p.Ala220=)
n.752C>A
n.743C>A
11g.46726007C=CA1969072146F2c.708C= (p.Ala236=)
c.678C= (p.Ala226=)
n.488C=
c.660C= (p.Ala220=)
n.752C=
n.743C=
11g.46726007C>GCA474043727F2c.708C>G (p.Ala236=)
c.678C>G (p.Ala226=)
n.488C>G
c.660C>G (p.Ala220=)
n.752C>G
n.743C>G
11g.46726007C>TCA221652038F2c.708C>T (p.Ala236=)
c.678C>T (p.Ala226=)
n.488C>T
c.660C>T (p.Ala220=)
n.752C>T
n.743C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.46726008T>ACA380265121F2c.709T>A (p.Trp237Arg)
c.679T>A (p.Trp227Arg)
n.489T>A
c.661T>A (p.Trp221Arg)
n.753T>A
n.744T>A
11g.46726008T>CCA380265122F2c.709T>C (p.Trp237Arg)
c.679T>C (p.Trp227Arg)
n.489T>C
c.661T>C (p.Trp221Arg)
n.753T>C
n.744T>C
11g.46726008T>GCA380265123F2c.709T>G (p.Trp237Gly)
c.679T>G (p.Trp227Gly)
n.489T>G
c.661T>G (p.Trp221Gly)
n.753T>G
n.744T>G
11g.46726009G>ACA380265127F2c.710G>A (p.Trp237Ter)
c.680G>A (p.Trp227Ter)
n.490G>A
c.662G>A (p.Trp221Ter)
n.754G>A
n.745G>A
11g.46726009G>CCA380265129F2c.710G>C (p.Trp237Ser)
c.680G>C (p.Trp227Ser)
n.490G>C
c.662G>C (p.Trp221Ser)
n.754G>C
n.745G>C
11g.46726009G>TCA380265125F2c.710G>T (p.Trp237Leu)
c.680G>T (p.Trp227Leu)
n.490G>T
c.662G>T (p.Trp221Leu)
n.754G>T
n.745G>T
11g.46726010G>ACA380265135F2c.711G>A (p.Trp237Ter)
c.681G>A (p.Trp227Ter)
n.491G>A
c.663G>A (p.Trp221Ter)
n.755G>A
n.746G>A
 gnomAD v4
11g.46726010G>CCA380265131F2c.711G>C (p.Trp237Cys)
c.681G>C (p.Trp227Cys)
n.491G>C
c.663G>C (p.Trp221Cys)
n.755G>C
n.746G>C
11g.46726010G>TCA380265132F2c.711G>T (p.Trp237Cys)
c.681G>T (p.Trp227Cys)
n.491G>T
c.663G>T (p.Trp221Cys)
n.755G>T
n.746G>T
11g.46726011G>ACA380265137F2c.712G>A (p.Ala238Thr)
c.682G>A (p.Ala228Thr)
n.492G>A
c.664G>A (p.Ala222Thr)
n.756G>A
n.747G>A
11g.46726011G>CCA380265139F2c.712G>C (p.Ala238Pro)
c.682G>C (p.Ala228Pro)
n.492G>C
c.664G>C (p.Ala222Pro)
n.756G>C
n.747G>C
11g.46726011G=CA1969072149F2c.712G= (p.Ala238=)
c.682G= (p.Ala228=)
n.492G=
c.664G= (p.Ala222=)
n.756G=
n.747G=
11g.46726011G>TCA380265140F2c.712G>T (p.Ala238Ser)
c.682G>T (p.Ala228Ser)
n.492G>T
c.664G>T (p.Ala222Ser)
n.756G>T
n.747G>T
11g.46726012C>ACA380265146F2c.713C>A (p.Ala238Asp)
c.683C>A (p.Ala228Asp)
n.493C>A
c.665C>A (p.Ala222Asp)
n.757C>A
n.748C>A
11g.46726012C>GCA380265144F2c.713C>G (p.Ala238Gly)
c.683C>G (p.Ala228Gly)
n.493C>G
c.665C>G (p.Ala222Gly)
n.757C>G
n.748C>G
11g.46726012C>TCA380265142F2c.713C>T (p.Ala238Val)
c.683C>T (p.Ala228Val)
n.493C>T
c.665C>T (p.Ala222Val)
n.757C>T
n.748C>T
11g.46726013dupCA599372386F2c.714dup (p.Ser239GlnfsTer?)
c.684dup (p.Ser229GlnfsTer?)
n.494dup
c.666dup (p.Ser223GlnfsTer?)
n.758dup
n.749dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.46726013C>ACA474043732F2c.714C>A (p.Ala238=)
c.684C>A (p.Ala228=)
n.494C>A
c.666C>A (p.Ala222=)
n.758C>A
n.749C>A
11g.46726013C>GCA474043734F2c.714C>G (p.Ala238=)
c.684C>G (p.Ala228=)
n.494C>G
c.666C>G (p.Ala222=)
n.758C>G
n.749C>G
11g.46726013C>TCA474043735F2c.714C>T (p.Ala238=)
c.684C>T (p.Ala228=)
n.494C>T
c.666C>T (p.Ala222=)
n.758C>T
n.749C>T
11g.46726014A=CA1969072154F2c.715A= (p.Ser239=)
c.685A= (p.Ser229=)
n.495A=
c.667A= (p.Ser223=)
n.759A=
n.750A=
11g.46726014A>CCA380265147F2c.715A>C (p.Ser239Arg)
c.685A>C (p.Ser229Arg)
n.495A>C
c.667A>C (p.Ser223Arg)
n.759A>C
n.750A>C
11g.46726014A>GCA5967042F2c.715A>G (p.Ser239Gly)
c.685A>G (p.Ser229Gly)
n.495A>G
c.667A>G (p.Ser223Gly)
n.759A>G
n.750A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726014A>TCA380265149F2c.715A>T (p.Ser239Cys)
c.685A>T (p.Ser229Cys)
n.495A>T
c.667A>T (p.Ser223Cys)
n.759A>T
n.750A>T
11g.46726015G>ACA5967043F2c.716G>A (p.Ser239Asn)
c.686G>A (p.Ser229Asn)
n.496G>A
c.668G>A (p.Ser223Asn)
n.760G>A
n.751G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46726015G>CCA380265152F2c.716G>C (p.Ser239Thr)
c.686G>C (p.Ser229Thr)
n.496G>C
c.668G>C (p.Ser223Thr)
n.760G>C
n.751G>C
11g.46726015G=CA1969072159F2c.716G= (p.Ser239=)
c.686G= (p.Ser229=)
n.496G=
c.668G= (p.Ser223=)
n.760G=
n.751G=
11g.46726015G>TCA380265155F2c.716G>T (p.Ser239Ile)
c.686G>T (p.Ser229Ile)
n.496G>T
c.668G>T (p.Ser223Ile)
n.760G>T
n.751G>T
11g.46726016C>ACA380265158F2c.717C>A (p.Ser239Arg)
c.687C>A (p.Ser229Arg)
n.497C>A
c.669C>A (p.Ser223Arg)
n.761C>A
n.752C>A
11g.46726016C=CA1969072163F2c.717C= (p.Ser239=)
c.687C= (p.Ser229=)
n.497C=
c.669C= (p.Ser223=)
n.761C=
n.752C=
11g.46726016C>GCA380265160F2c.717C>G (p.Ser239Arg)
c.687C>G (p.Ser229Arg)
n.497C>G
c.669C>G (p.Ser223Arg)
n.761C>G
n.752C>G
11g.46726016C>TCA5967044F2c.717C>T (p.Ser239=)
c.687C>T (p.Ser229=)
n.497C>T
c.669C>T (p.Ser223=)
n.761C>T
n.752C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched