Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.1754916G>ACA5814062CTSDc.817C>T (p.His273Tyr)
c.712C>T (p.His238Tyr)
c.242C>T
n.433C>T
c.796C>T (p.His266Tyr)
c.811C>T (p.His271Tyr)
n.415C>T
n.3245C>T
c.809+8C>T (n.809+8C>T)
n.125C>T
c.*678C>T (n.*678C>T)
c.217C>T (p.His73Tyr)
c.31C>T (p.His11Tyr)
c.772C>T (p.His258Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1754916G>CCA379095068CTSDc.817C>G (p.His273Asp)
c.712C>G (p.His238Asp)
c.242C>G
n.433C>G
c.796C>G (p.His266Asp)
c.811C>G (p.His271Asp)
n.415C>G
n.3245C>G
c.809+8C>G (n.809+8C>G)
n.125C>G
c.*678C>G (n.*678C>G)
c.217C>G (p.His73Asp)
c.31C>G (p.His11Asp)
c.772C>G (p.His258Asp)
11g.1754916G=CA1947826293CTSDc.817C= (p.His273=)
c.712C= (p.His238=)
c.242C=
n.433C=
c.796C= (p.His266=)
c.811C= (p.His271=)
n.415C=
n.3245C=
c.809+8C= (n.809+8C=)
n.125C=
c.*678C= (n.*678C=)
c.217C= (p.His73=)
c.31C= (p.His11=)
c.772C= (p.His258=)
11g.1754916G>TCA379095066CTSDc.817C>A (p.His273Asn)
c.712C>A (p.His238Asn)
c.242C>A
n.433C>A
c.796C>A (p.His266Asn)
c.811C>A (p.His271Asn)
n.415C>A
n.3245C>A
c.809+8C>A (n.809+8C>A)
n.125C>A
c.*678C>A (n.*678C>A)
c.217C>A (p.His73Asn)
c.31C>A (p.His11Asn)
c.772C>A (p.His258Asn)
11g.1754917G>ACA471983119CTSDc.816C>T (p.Val272=)
c.711C>T (p.Val237=)
c.241C>T
n.432C>T
c.795C>T (p.Val265=)
c.810C>T (p.Val270=)
n.414C>T
n.3244C>T
c.809+7C>T (n.809+7C>T)
n.124C>T
c.*677C>T (n.*677C>T)
c.216C>T (p.Val72=)
c.30C>T (p.Val10=)
c.771C>T (p.Val257=)
 ClinVar COSMIC
11g.1754917G>CCA471983122CTSDc.816C>G (p.Val272=)
c.711C>G (p.Val237=)
c.241C>G
n.432C>G
c.795C>G (p.Val265=)
c.810C>G (p.Val270=)
n.414C>G
n.3244C>G
c.809+7C>G (n.809+7C>G)
n.124C>G
c.*677C>G (n.*677C>G)
c.216C>G (p.Val72=)
c.30C>G (p.Val10=)
c.771C>G (p.Val257=)
 gnomAD v4
11g.1754917G=CA1947826294CTSDc.816C= (p.Val272=)
c.711C= (p.Val237=)
c.241C=
n.432C=
c.795C= (p.Val265=)
c.810C= (p.Val270=)
n.414C=
n.3244C=
c.809+7C= (n.809+7C=)
n.124C=
c.*677C= (n.*677C=)
c.216C= (p.Val72=)
c.30C= (p.Val10=)
c.771C= (p.Val257=)
11g.1754917G>TCA471983125CTSDc.816C>A (p.Val272=)
c.711C>A (p.Val237=)
c.241C>A
n.432C>A
c.795C>A (p.Val265=)
c.810C>A (p.Val270=)
n.414C>A
n.3244C>A
c.809+7C>A (n.809+7C>A)
n.124C>A
c.*677C>A (n.*677C>A)
c.216C>A (p.Val72=)
c.30C>A (p.Val10=)
c.771C>A (p.Val257=)
 ClinVar dbSNP
11g.1754918A=CA1947826295CTSDc.815T= (p.Val272=)
c.710T= (p.Val237=)
c.240T=
n.431T=
c.794T= (p.Val265=)
c.809T= (p.Val270=)
n.413T=
n.3243T=
c.809+6T= (n.809+6T=)
n.123T=
c.*676T= (n.*676T=)
c.215T= (p.Val72=)
c.29T= (p.Val10=)
c.770T= (p.Val257=)
11g.1754918A>CCA5814063CTSDc.815T>G (p.Val272Gly)
c.710T>G (p.Val237Gly)
c.240T>G
n.431T>G
c.794T>G (p.Val265Gly)
c.809T>G (p.Val270Gly)
n.413T>G
n.3243T>G
c.809+6T>G (n.809+6T>G)
n.123T>G
c.*676T>G (n.*676T>G)
c.215T>G (p.Val72Gly)
c.29T>G (p.Val10Gly)
c.770T>G (p.Val257Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1754918A>GCA379095071CTSDc.815T>C (p.Val272Ala)
c.710T>C (p.Val237Ala)
c.240T>C
n.431T>C
c.794T>C (p.Val265Ala)
c.809T>C (p.Val270Ala)
n.413T>C
n.3243T>C
c.809+6T>C (n.809+6T>C)
n.123T>C
c.*676T>C (n.*676T>C)
c.215T>C (p.Val72Ala)
c.29T>C (p.Val10Ala)
c.770T>C (p.Val257Ala)
11g.1754918A>TCA379095073CTSDc.815T>A (p.Val272Asp)
c.710T>A (p.Val237Asp)
c.240T>A
n.431T>A
c.794T>A (p.Val265Asp)
c.809T>A (p.Val270Asp)
n.413T>A
n.3243T>A
c.809+6T>A (n.809+6T>A)
n.123T>A
c.*676T>A (n.*676T>A)
c.215T>A (p.Val72Asp)
c.29T>A (p.Val10Asp)
c.770T>A (p.Val257Asp)
11g.1754919C>ACA379095075CTSDc.814G>T (p.Val272Phe)
c.709G>T (p.Val237Phe)
c.239G>T
n.430G>T
c.793G>T (p.Val265Phe)
c.808G>T (p.Val270Phe)
n.412G>T
n.3242G>T
c.809+5G>T (n.809+5G>T)
n.122G>T
c.*675G>T (n.*675G>T)
c.214G>T (p.Val72Phe)
c.28G>T (p.Val10Phe)
c.769G>T (p.Val257Phe)
11g.1754919C>GCA379095077CTSDc.814G>C (p.Val272Leu)
c.709G>C (p.Val237Leu)
c.239G>C
n.430G>C
c.793G>C (p.Val265Leu)
c.808G>C (p.Val270Leu)
n.412G>C
n.3242G>C
c.809+5G>C (n.809+5G>C)
n.122G>C
c.*675G>C (n.*675G>C)
c.214G>C (p.Val72Leu)
c.28G>C (p.Val10Leu)
c.769G>C (p.Val257Leu)
11g.1754919C>TCA379095079CTSDc.814G>A (p.Val272Ile)
c.709G>A (p.Val237Ile)
c.239G>A
n.430G>A
c.793G>A (p.Val265Ile)
c.808G>A (p.Val270Ile)
n.412G>A
n.3242G>A
c.809+5G>A (n.809+5G>A)
n.122G>A
c.*675G>A (n.*675G>A)
c.214G>A (p.Val72Ile)
c.28G>A (p.Val10Ile)
c.769G>A (p.Val257Ile)
11g.1754920C>ACA379095083CTSDc.813G>T (p.Gln271His)
c.708G>T (p.Gln236His)
c.238G>T
n.429G>T
c.792G>T (p.Gln264His)
c.807G>T (p.Gln269His)
n.411G>T
n.3241G>T
c.809+4G>T (n.809+4G>T)
n.121G>T
c.*674G>T (n.*674G>T)
c.213G>T (p.Gln71His)
c.27G>T (p.Gln9His)
c.768G>T (p.Gln256His)
11g.1754920C>GCA379095082CTSDc.813G>C (p.Gln271His)
c.708G>C (p.Gln236His)
c.238G>C
n.429G>C
c.792G>C (p.Gln264His)
c.807G>C (p.Gln269His)
n.411G>C
n.3241G>C
c.809+4G>C (n.809+4G>C)
n.121G>C
c.*674G>C (n.*674G>C)
c.213G>C (p.Gln71His)
c.27G>C (p.Gln9His)
c.768G>C (p.Gln256His)
11g.1754920C>TCA471983139CTSDc.813G>A (p.Gln271=)
c.708G>A (p.Gln236=)
c.238G>A
n.429G>A
c.792G>A (p.Gln264=)
c.807G>A (p.Gln269=)
n.411G>A
n.3241G>A
c.809+4G>A (n.809+4G>A)
n.121G>A
c.*674G>A (n.*674G>A)
c.213G>A (p.Gln71=)
c.27G>A (p.Gln9=)
c.768G>A (p.Gln256=)
11g.1754921T>ACA379095085CTSDc.812A>T (p.Gln271Leu)
c.707A>T (p.Gln236Leu)
c.237A>T
n.428A>T
c.791A>T (p.Gln264Leu)
c.806A>T (p.Gln269Leu)
n.410A>T
n.3240A>T
c.809+3A>T (n.809+3A>T)
n.120A>T
c.*673A>T (n.*673A>T)
c.212A>T (p.Gln71Leu)
c.26A>T (p.Gln9Leu)
c.767A>T (p.Gln256Leu)
11g.1754921T>CCA379095087CTSDc.812A>G (p.Gln271Arg)
c.707A>G (p.Gln236Arg)
c.237A>G
n.428A>G
c.791A>G (p.Gln264Arg)
c.806A>G (p.Gln269Arg)
n.410A>G
n.3240A>G
c.809+3A>G (n.809+3A>G)
n.120A>G
c.*673A>G (n.*673A>G)
c.212A>G (p.Gln71Arg)
c.26A>G (p.Gln9Arg)
c.767A>G (p.Gln256Arg)
11g.1754921T>GCA379095089CTSDc.812A>C (p.Gln271Pro)
c.707A>C (p.Gln236Pro)
c.237A>C
n.428A>C
c.791A>C (p.Gln264Pro)
c.806A>C (p.Gln269Pro)
n.410A>C
n.3240A>C
c.809+3A>C (n.809+3A>C)
n.120A>C
c.*673A>C (n.*673A>C)
c.212A>C (p.Gln71Pro)
c.26A>C (p.Gln9Pro)
c.767A>C (p.Gln256Pro)
11g.1754922G>ACA379095091CTSDc.811C>T (p.Gln271Ter)
c.706C>T (p.Gln236Ter)
c.236C>T
n.427C>T
c.790C>T (p.Gln264Ter)
c.805C>T (p.Gln269Ter)
n.409C>T
n.3239C>T
c.809+2C>T (n.809+2C>T)
n.119C>T
c.*672C>T (n.*672C>T)
c.211C>T (p.Gln71Ter)
c.25C>T (p.Gln9Ter)
c.766C>T (p.Gln256Ter)
 gnomAD v4
11g.1754922G>CCA379095093CTSDc.811C>G (p.Gln271Glu)
c.706C>G (p.Gln236Glu)
c.236C>G
n.427C>G
c.790C>G (p.Gln264Glu)
c.805C>G (p.Gln269Glu)
n.409C>G
n.3239C>G
c.809+2C>G (n.809+2C>G)
n.119C>G
c.*672C>G (n.*672C>G)
c.211C>G (p.Gln71Glu)
c.25C>G (p.Gln9Glu)
c.766C>G (p.Gln256Glu)
11g.1754922G>TCA379095095CTSDc.811C>A (p.Gln271Lys)
c.706C>A (p.Gln236Lys)
c.236C>A
n.427C>A
c.790C>A (p.Gln264Lys)
c.805C>A (p.Gln269Lys)
n.409C>A
n.3239C>A
c.809+2C>A (n.809+2C>A)
n.119C>A
c.*672C>A (n.*672C>A)
c.211C>A (p.Gln71Lys)
c.25C>A (p.Gln9Lys)
c.766C>A (p.Gln256Lys)
 COSMIC
11g.1754922_1754923delinsGCCA1947826296CTSDc.810_811delinsGC (p.Trp270=)
c.705_706delinsGC (p.Trp235=)
c.235_236delinsGC
n.426_427delinsGC
c.789_790delinsGC (p.Trp263=)
c.804_805delinsGC (p.Trp268=)
n.408_409delinsGC
n.3238_3239delinsGC
c.809+1_809+2delinsGC (n.809+1_809+2delinsGC)
n.118_119delinsGC
c.*671_*672delinsGC (n.*671_*672delinsGC)
c.210_211delinsGC (p.Trp70=)
c.24_25delinsGC (p.Trp8=)
c.765_766delinsGC (p.Trp255=)
11g.1754923C>ACA379095098CTSDc.810G>T (p.Trp270Cys)
c.705G>T (p.Trp235Cys)
c.235G>T
n.426G>T
c.789G>T (p.Trp263Cys)
c.804G>T (p.Trp268Cys)
n.408G>T
n.3238G>T
c.809+1G>T (n.809+1G>T)
n.118G>T
c.*671G>T (n.*671G>T)
c.210G>T (p.Trp70Cys)
c.24G>T (p.Trp8Cys)
c.765G>T (p.Trp255Cys)
11g.1754923C>GCA379095101CTSDc.810G>C (p.Trp270Cys)
c.705G>C (p.Trp235Cys)
c.235G>C
n.426G>C
c.789G>C (p.Trp263Cys)
c.804G>C (p.Trp268Cys)
n.408G>C
n.3238G>C
c.809+1G>C (n.809+1G>C)
n.118G>C
c.*671G>C (n.*671G>C)
c.210G>C (p.Trp70Cys)
c.24G>C (p.Trp8Cys)
c.765G>C (p.Trp255Cys)
11g.1754923C>TCA379095099CTSDc.810G>A (p.Trp270Ter)
c.705G>A (p.Trp235Ter)
c.235G>A
n.426G>A
c.789G>A (p.Trp263Ter)
c.804G>A (p.Trp268Ter)
n.408G>A
n.3238G>A
c.809+1G>A (n.809+1G>A)
n.118G>A
c.*671G>A (n.*671G>A)
c.210G>A (p.Trp70Ter)
c.24G>A (p.Trp8Ter)
c.765G>A (p.Trp255Ter)
11g.1754924delCA597065286CTSDc.810del (p.Trp270CysfsTer14)
c.705del (p.Trp235CysfsTer14)
c.235del
c.810del (p.Trp270CysfsTer13)
c.810del (p.Trp270CysfsTer?)
n.426del
c.789del (p.Trp263CysfsTer14)
c.804del (p.Trp268CysfsTer14)
n.408del
n.3238del
c.809+1del
n.118del
c.*671del (n.*671del)
c.210del (p.Trp70CysfsTer14)
c.24del (p.Trp8CysfsTer?)
c.765del (p.Trp255CysfsTer14)
 dbSNP gnomAD v2 gnomAD v4
11g.1754924C>ACA379095103CTSDc.809G>T (p.Trp270Leu)
c.704G>T (p.Trp235Leu)
c.234G>T
n.425G>T
c.788G>T (p.Trp263Leu)
c.803G>T (p.Trp268Leu)
n.407G>T
n.3237G>T
n.117G>T
c.*670G>T (n.*670G>T)
c.209G>T (p.Trp70Leu)
c.23G>T (p.Trp8Leu)
c.764G>T (p.Trp255Leu)
11g.1754924C>GCA379095104CTSDc.809G>C (p.Trp270Ser)
c.704G>C (p.Trp235Ser)
c.234G>C
n.425G>C
c.788G>C (p.Trp263Ser)
c.803G>C (p.Trp268Ser)
n.407G>C
n.3237G>C
n.117G>C
c.*670G>C (n.*670G>C)
c.209G>C (p.Trp70Ser)
c.23G>C (p.Trp8Ser)
c.764G>C (p.Trp255Ser)
11g.1754924C>TCA379095106CTSDc.809G>A (p.Trp270Ter)
c.704G>A (p.Trp235Ter)
c.234G>A
n.425G>A
c.788G>A (p.Trp263Ter)
c.803G>A (p.Trp268Ter)
n.407G>A
n.3237G>A
n.117G>A
c.*670G>A (n.*670G>A)
c.209G>A (p.Trp70Ter)
c.23G>A (p.Trp8Ter)
c.764G>A (p.Trp255Ter)
11g.1754925A>CCA379095108CTSDc.808T>G (p.Trp270Gly)
c.703T>G (p.Trp235Gly)
c.233T>G
n.424T>G
c.787T>G (p.Trp263Gly)
c.802T>G (p.Trp268Gly)
n.406T>G
n.3236T>G
n.116T>G
c.*669T>G (n.*669T>G)
c.208T>G (p.Trp70Gly)
c.22T>G (p.Trp8Gly)
c.763T>G (p.Trp255Gly)
11g.1754925A>GCA379095109CTSDc.808T>C (p.Trp270Arg)
c.703T>C (p.Trp235Arg)
c.233T>C
n.424T>C
c.787T>C (p.Trp263Arg)
c.802T>C (p.Trp268Arg)
n.406T>C
n.3236T>C
n.116T>C
c.*669T>C (n.*669T>C)
c.208T>C (p.Trp70Arg)
c.22T>C (p.Trp8Arg)
c.763T>C (p.Trp255Arg)
11g.1754925A>TCA379095111CTSDc.808T>A (p.Trp270Arg)
c.703T>A (p.Trp235Arg)
c.233T>A
n.424T>A
c.787T>A (p.Trp263Arg)
c.802T>A (p.Trp268Arg)
n.406T>A
n.3236T>A
n.116T>A
c.*669T>A (n.*669T>A)
c.208T>A (p.Trp70Arg)
c.22T>A (p.Trp8Arg)
c.763T>A (p.Trp255Arg)
11g.1754926G>ACA471983153CTSDc.807C>T (p.Tyr269=)
c.702C>T (p.Tyr234=)
c.232C>T
n.423C>T
c.786C>T (p.Tyr262=)
c.801C>T (p.Tyr267=)
n.405C>T
n.3235C>T
n.115C>T
c.*668C>T (n.*668C>T)
c.207C>T (p.Tyr69=)
c.21C>T (p.Tyr7=)
c.762C>T (p.Tyr254=)
11g.1754926G>CCA379095114CTSDc.807C>G (p.Tyr269Ter)
c.702C>G (p.Tyr234Ter)
c.232C>G
n.423C>G
c.786C>G (p.Tyr262Ter)
c.801C>G (p.Tyr267Ter)
n.405C>G
n.3235C>G
n.115C>G
c.*668C>G (n.*668C>G)
c.207C>G (p.Tyr69Ter)
c.21C>G (p.Tyr7Ter)
c.762C>G (p.Tyr254Ter)
 dbSNP
11g.1754926G=CA1947826297CTSDc.807C= (p.Tyr269=)
c.702C= (p.Tyr234=)
c.232C=
n.423C=
c.786C= (p.Tyr262=)
c.801C= (p.Tyr267=)
n.405C=
n.3235C=
n.115C=
c.*668C= (n.*668C=)
c.207C= (p.Tyr69=)
c.21C= (p.Tyr7=)
c.762C= (p.Tyr254=)
11g.1754926G>TCA379095116CTSDc.807C>A (p.Tyr269Ter)
c.702C>A (p.Tyr234Ter)
c.232C>A
n.423C>A
c.786C>A (p.Tyr262Ter)
c.801C>A (p.Tyr267Ter)
n.405C>A
n.3235C>A
n.115C>A
c.*668C>A (n.*668C>A)
c.207C>A (p.Tyr69Ter)
c.21C>A (p.Tyr7Ter)
c.762C>A (p.Tyr254Ter)
11g.1754927T>ACA379095117CTSDc.806A>T (p.Tyr269Phe)
c.701A>T (p.Tyr234Phe)
c.231A>T
n.422A>T
c.785A>T (p.Tyr262Phe)
c.800A>T (p.Tyr267Phe)
n.404A>T
n.3234A>T
n.114A>T
c.*667A>T (n.*667A>T)
c.206A>T (p.Tyr69Phe)
c.20A>T (p.Tyr7Phe)
c.761A>T (p.Tyr254Phe)
11g.1754927T>CCA379095119CTSDc.806A>G (p.Tyr269Cys)
c.701A>G (p.Tyr234Cys)
c.231A>G
n.422A>G
c.785A>G (p.Tyr262Cys)
c.800A>G (p.Tyr267Cys)
n.404A>G
n.3234A>G
n.114A>G
c.*667A>G (n.*667A>G)
c.206A>G (p.Tyr69Cys)
c.20A>G (p.Tyr7Cys)
c.761A>G (p.Tyr254Cys)
11g.1754927T>GCA379095121CTSDc.806A>C (p.Tyr269Ser)
c.701A>C (p.Tyr234Ser)
c.231A>C
n.422A>C
c.785A>C (p.Tyr262Ser)
c.800A>C (p.Tyr267Ser)
n.404A>C
n.3234A>C
n.114A>C
c.*667A>C (n.*667A>C)
c.206A>C (p.Tyr69Ser)
c.20A>C (p.Tyr7Ser)
c.761A>C (p.Tyr254Ser)
11g.1754928A>CCA379095123CTSDc.805T>G (p.Tyr269Asp)
c.700T>G (p.Tyr234Asp)
c.230T>G
n.421T>G
c.784T>G (p.Tyr262Asp)
c.799T>G (p.Tyr267Asp)
n.403T>G
n.3233T>G
n.113T>G
c.*666T>G (n.*666T>G)
c.205T>G (p.Tyr69Asp)
c.19T>G (p.Tyr7Asp)
c.760T>G (p.Tyr254Asp)
11g.1754928A>GCA379095128CTSDc.805T>C (p.Tyr269His)
c.700T>C (p.Tyr234His)
c.230T>C
n.421T>C
c.784T>C (p.Tyr262His)
c.799T>C (p.Tyr267His)
n.403T>C
n.3233T>C
n.113T>C
c.*666T>C (n.*666T>C)
c.205T>C (p.Tyr69His)
c.19T>C (p.Tyr7His)
c.760T>C (p.Tyr254His)
11g.1754928A>TCA379095125CTSDc.805T>A (p.Tyr269Asn)
c.700T>A (p.Tyr234Asn)
c.230T>A
n.421T>A
c.784T>A (p.Tyr262Asn)
c.799T>A (p.Tyr267Asn)
n.403T>A
n.3233T>A
n.113T>A
c.*666T>A (n.*666T>A)
c.205T>A (p.Tyr69Asn)
c.19T>A (p.Tyr7Asn)
c.760T>A (p.Tyr254Asn)
11g.1754929G>ACA471983166CTSDc.804C>T (p.Ala268=)
c.699C>T (p.Ala233=)
c.229C>T
n.420C>T
c.783C>T (p.Ala261=)
c.798C>T (p.Ala266=)
n.402C>T
n.3232C>T
n.112C>T
c.*665C>T (n.*665C>T)
c.204C>T (p.Ala68=)
c.18C>T (p.Ala6=)
c.759C>T (p.Ala253=)
 ClinVar gnomAD v4
11g.1754929G>CCA471983163CTSDc.804C>G (p.Ala268=)
c.699C>G (p.Ala233=)
c.229C>G
n.420C>G
c.783C>G (p.Ala261=)
c.798C>G (p.Ala266=)
n.402C>G
n.3232C>G
n.112C>G
c.*665C>G (n.*665C>G)
c.204C>G (p.Ala68=)
c.18C>G (p.Ala6=)
c.759C>G (p.Ala253=)
11g.1754929G>TCA471983167CTSDc.804C>A (p.Ala268=)
c.699C>A (p.Ala233=)
c.229C>A
n.420C>A
c.783C>A (p.Ala261=)
c.798C>A (p.Ala266=)
n.402C>A
n.3232C>A
n.112C>A
c.*665C>A (n.*665C>A)
c.204C>A (p.Ala68=)
c.18C>A (p.Ala6=)
c.759C>A (p.Ala253=)
11g.1754930G>ACA379095130CTSDc.803C>T (p.Ala268Val)
c.698C>T (p.Ala233Val)
c.228C>T
n.419C>T
c.782C>T (p.Ala261Val)
c.797C>T (p.Ala266Val)
n.401C>T
n.3231C>T
n.111C>T
c.*664C>T (n.*664C>T)
c.203C>T (p.Ala68Val)
c.17C>T (p.Ala6Val)
c.758C>T (p.Ala253Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.1754930G>CCA379095134CTSDc.803C>G (p.Ala268Gly)
c.698C>G (p.Ala233Gly)
c.228C>G
n.419C>G
c.782C>G (p.Ala261Gly)
c.797C>G (p.Ala266Gly)
n.401C>G
n.3231C>G
n.111C>G
c.*664C>G (n.*664C>G)
c.203C>G (p.Ala68Gly)
c.17C>G (p.Ala6Gly)
c.758C>G (p.Ala253Gly)
11g.1754930G=CA1947826298CTSDc.803C= (p.Ala268=)
c.698C= (p.Ala233=)
c.228C=
n.419C=
c.782C= (p.Ala261=)
c.797C= (p.Ala266=)
n.401C=
n.3231C=
n.111C=
c.*664C= (n.*664C=)
c.203C= (p.Ala68=)
c.17C= (p.Ala6=)
c.758C= (p.Ala253=)
11g.1754930G>TCA379095132CTSDc.803C>A (p.Ala268Asp)
c.698C>A (p.Ala233Asp)
c.228C>A
n.419C>A
c.782C>A (p.Ala261Asp)
c.797C>A (p.Ala266Asp)
n.401C>A
n.3231C>A
n.111C>A
c.*664C>A (n.*664C>A)
c.203C>A (p.Ala68Asp)
c.17C>A (p.Ala6Asp)
c.758C>A (p.Ala253Asp)
11g.1754931C>ACA379095135CTSDc.802G>T (p.Ala268Ser)
c.697G>T (p.Ala233Ser)
c.227G>T
n.418G>T
c.781G>T (p.Ala261Ser)
c.796G>T (p.Ala266Ser)
n.400G>T
n.3230G>T
n.110G>T
c.*663G>T (n.*663G>T)
c.202G>T (p.Ala68Ser)
c.16G>T (p.Ala6Ser)
c.757G>T (p.Ala253Ser)
11g.1754931C>GCA379095137CTSDc.802G>C (p.Ala268Pro)
c.697G>C (p.Ala233Pro)
c.227G>C
n.418G>C
c.781G>C (p.Ala261Pro)
c.796G>C (p.Ala266Pro)
n.400G>C
n.3230G>C
n.110G>C
c.*663G>C (n.*663G>C)
c.202G>C (p.Ala68Pro)
c.16G>C (p.Ala6Pro)
c.757G>C (p.Ala253Pro)
11g.1754931C>TCA379095138CTSDc.802G>A (p.Ala268Thr)
c.697G>A (p.Ala233Thr)
c.227G>A
n.418G>A
c.781G>A (p.Ala261Thr)
c.796G>A (p.Ala266Thr)
n.400G>A
n.3230G>A
n.110G>A
c.*663G>A (n.*663G>A)
c.202G>A (p.Ala68Thr)
c.16G>A (p.Ala6Thr)
c.757G>A (p.Ala253Thr)
11g.1754932C>ACA379095140CTSDc.801G>T (p.Lys267Asn)
c.696G>T (p.Lys232Asn)
c.226G>T
n.417G>T
c.780G>T (p.Lys260Asn)
c.795G>T (p.Lys265Asn)
n.399G>T
n.3229G>T
n.109G>T
c.*662G>T (n.*662G>T)
c.201G>T (p.Lys67Asn)
c.15G>T (p.Lys5Asn)
c.756G>T (p.Lys252Asn)
11g.1754932C>GCA379095142CTSDc.801G>C (p.Lys267Asn)
c.696G>C (p.Lys232Asn)
c.226G>C
n.417G>C
c.780G>C (p.Lys260Asn)
c.795G>C (p.Lys265Asn)
n.399G>C
n.3229G>C
n.109G>C
c.*662G>C (n.*662G>C)
c.201G>C (p.Lys67Asn)
c.15G>C (p.Lys5Asn)
c.756G>C (p.Lys252Asn)
11g.1754932C>TCA471983180CTSDc.801G>A (p.Lys267=)
c.696G>A (p.Lys232=)
c.226G>A
n.417G>A
c.780G>A (p.Lys260=)
c.795G>A (p.Lys265=)
n.399G>A
n.3229G>A
n.109G>A
c.*662G>A (n.*662G>A)
c.201G>A (p.Lys67=)
c.15G>A (p.Lys5=)
c.756G>A (p.Lys252=)
11g.1754933T>ACA379095145CTSDc.800A>T (p.Lys267Met)
c.695A>T (p.Lys232Met)
c.225A>T
n.416A>T
c.779A>T (p.Lys260Met)
c.794A>T (p.Lys265Met)
n.398A>T
n.3228A>T
n.108A>T
c.*661A>T (n.*661A>T)
c.200A>T (p.Lys67Met)
c.14A>T (p.Lys5Met)
c.755A>T (p.Lys252Met)
11g.1754933T>CCA379095146CTSDc.800A>G (p.Lys267Arg)
c.695A>G (p.Lys232Arg)
c.225A>G
n.416A>G
c.779A>G (p.Lys260Arg)
c.794A>G (p.Lys265Arg)
n.398A>G
n.3228A>G
n.108A>G
c.*661A>G (n.*661A>G)
c.200A>G (p.Lys67Arg)
c.14A>G (p.Lys5Arg)
c.755A>G (p.Lys252Arg)
11g.1754933T>GCA379095148CTSDc.800A>C (p.Lys267Thr)
c.695A>C (p.Lys232Thr)
c.225A>C
n.416A>C
c.779A>C (p.Lys260Thr)
c.794A>C (p.Lys265Thr)
n.398A>C
n.3228A>C
n.108A>C
c.*661A>C (n.*661A>C)
c.200A>C (p.Lys67Thr)
c.14A>C (p.Lys5Thr)
c.755A>C (p.Lys252Thr)
11g.1754934T>ACA379095151CTSDc.799A>T (p.Lys267Ter)
c.694A>T (p.Lys232Ter)
c.224A>T
n.415A>T
c.778A>T (p.Lys260Ter)
c.793A>T (p.Lys265Ter)
n.397A>T
n.3227A>T
n.107A>T
c.*660A>T (n.*660A>T)
c.199A>T (p.Lys67Ter)
c.13A>T (p.Lys5Ter)
c.754A>T (p.Lys252Ter)
11g.1754934T>CCA5814064CTSDc.799A>G (p.Lys267Glu)
c.694A>G (p.Lys232Glu)
c.224A>G
n.415A>G
c.778A>G (p.Lys260Glu)
c.793A>G (p.Lys265Glu)
n.397A>G
n.3227A>G
n.107A>G
c.*660A>G (n.*660A>G)
c.199A>G (p.Lys67Glu)
c.13A>G (p.Lys5Glu)
c.754A>G (p.Lys252Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1754934T>GCA379095153CTSDc.799A>C (p.Lys267Gln)
c.694A>C (p.Lys232Gln)
c.224A>C
n.415A>C
c.778A>C (p.Lys260Gln)
c.793A>C (p.Lys265Gln)
n.397A>C
n.3227A>C
n.107A>C
c.*660A>C (n.*660A>C)
c.199A>C (p.Lys67Gln)
c.13A>C (p.Lys5Gln)
c.754A>C (p.Lys252Gln)
 ClinVar dbSNP
11g.1754934T=CA1947826299CTSDc.799A= (p.Lys267=)
c.694A= (p.Lys232=)
c.224A=
n.415A=
c.778A= (p.Lys260=)
c.793A= (p.Lys265=)
n.397A=
n.3227A=
n.107A=
c.*660A= (n.*660A=)
c.199A= (p.Lys67=)
c.13A= (p.Lys5=)
c.754A= (p.Lys252=)
11g.1754935G>ACA471983186CTSDc.798C>T (p.Arg266=)
c.693C>T (p.Arg231=)
c.223C>T
n.414C>T
c.777C>T (p.Arg259=)
c.792C>T (p.Arg264=)
n.396C>T
n.3226C>T
n.106C>T
c.*659C>T (n.*659C>T)
c.198C>T (p.Arg66=)
c.12C>T (p.Arg4=)
c.753C>T (p.Arg251=)
11g.1754935G>CCA471983188CTSDc.798C>G (p.Arg266=)
c.693C>G (p.Arg231=)
c.223C>G
n.414C>G
c.777C>G (p.Arg259=)
c.792C>G (p.Arg264=)
n.396C>G
n.3226C>G
n.106C>G
c.*659C>G (n.*659C>G)
c.198C>G (p.Arg66=)
c.12C>G (p.Arg4=)
c.753C>G (p.Arg251=)
 dbSNP
11g.1754935G=CA1947826300CTSDc.798C= (p.Arg266=)
c.693C= (p.Arg231=)
c.223C=
n.414C=
c.777C= (p.Arg259=)
c.792C= (p.Arg264=)
n.396C=
n.3226C=
n.106C=
c.*659C= (n.*659C=)
c.198C= (p.Arg66=)
c.12C= (p.Arg4=)
c.753C= (p.Arg251=)
11g.1754935G>TCA471983190CTSDc.798C>A (p.Arg266=)
c.693C>A (p.Arg231=)
c.223C>A
n.414C>A
c.777C>A (p.Arg259=)
c.792C>A (p.Arg264=)
n.396C>A
n.3226C>A
n.106C>A
c.*659C>A (n.*659C>A)
c.198C>A (p.Arg66=)
c.12C>A (p.Arg4=)
c.753C>A (p.Arg251=)
11g.1754936C>ACA5814066CTSDc.797G>T (p.Arg266Leu)
c.692G>T (p.Arg231Leu)
c.222G>T
n.413G>T
c.776G>T (p.Arg259Leu)
c.791G>T (p.Arg264Leu)
n.395G>T
n.3225G>T
n.105G>T
c.*658G>T (n.*658G>T)
c.197G>T (p.Arg66Leu)
c.11G>T (p.Arg4Leu)
c.752G>T (p.Arg251Leu)
 dbSNP ExAC
11g.1754936C=CA1947826301CTSDc.797G= (p.Arg266=)
c.692G= (p.Arg231=)
c.222G=
n.413G=
c.776G= (p.Arg259=)
c.791G= (p.Arg264=)
n.395G=
n.3225G=
n.105G=
c.*658G= (n.*658G=)
c.197G= (p.Arg66=)
c.11G= (p.Arg4=)
c.752G= (p.Arg251=)
11g.1754936C>GCA379095155CTSDc.797G>C (p.Arg266Pro)
c.692G>C (p.Arg231Pro)
c.222G>C
n.413G>C
c.776G>C (p.Arg259Pro)
c.791G>C (p.Arg264Pro)
n.395G>C
n.3225G>C
n.105G>C
c.*658G>C (n.*658G>C)
c.197G>C (p.Arg66Pro)
c.11G>C (p.Arg4Pro)
c.752G>C (p.Arg251Pro)
 gnomAD v4
11g.1754936C>TCA5814065CTSDc.797G>A (p.Arg266His)
c.692G>A (p.Arg231His)
c.222G>A
n.413G>A
c.776G>A (p.Arg259His)
c.791G>A (p.Arg264His)
n.395G>A
n.3225G>A
n.105G>A
c.*658G>A (n.*658G>A)
c.197G>A (p.Arg66His)
c.11G>A (p.Arg4His)
c.752G>A (p.Arg251His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1754937G>ACA314360CTSDc.796C>T (p.Arg266Cys)
c.691C>T (p.Arg231Cys)
c.221C>T
n.412C>T
c.775C>T (p.Arg259Cys)
c.790C>T (p.Arg264Cys)
n.394C>T
n.3224C>T
n.104C>T
c.*657C>T (n.*657C>T)
c.196C>T (p.Arg66Cys)
c.10C>T (p.Arg4Cys)
c.751C>T (p.Arg251Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.1754937G>CCA379095161CTSDc.796C>G (p.Arg266Gly)
c.691C>G (p.Arg231Gly)
c.221C>G
n.412C>G
c.775C>G (p.Arg259Gly)
c.790C>G (p.Arg264Gly)
n.394C>G
n.3224C>G
n.104C>G
c.*657C>G (n.*657C>G)
c.196C>G (p.Arg66Gly)
c.10C>G (p.Arg4Gly)
c.751C>G (p.Arg251Gly)
11g.1754937G=CA1947826302CTSDc.796C= (p.Arg266=)
c.691C= (p.Arg231=)
c.221C=
n.412C=
c.775C= (p.Arg259=)
c.790C= (p.Arg264=)
n.394C=
n.3224C=
n.104C=
c.*657C= (n.*657C=)
c.196C= (p.Arg66=)
c.10C= (p.Arg4=)
c.751C= (p.Arg251=)
11g.1754937G>TCA379095163CTSDc.796C>A (p.Arg266Ser)
c.691C>A (p.Arg231Ser)
c.221C>A
n.412C>A
c.775C>A (p.Arg259Ser)
c.790C>A (p.Arg264Ser)
n.394C>A
n.3224C>A
n.104C>A
c.*657C>A (n.*657C>A)
c.196C>A (p.Arg66Ser)
c.10C>A (p.Arg4Ser)
c.751C>A (p.Arg251Ser)
11g.1754938G>ACA471983212CTSDc.795C>T (p.Thr265=)
c.690C>T (p.Thr230=)
c.220C>T
n.411C>T
c.774C>T (p.Thr258=)
c.789C>T (p.Thr263=)
n.393C>T
n.3223C>T
n.103C>T
c.*656C>T (n.*656C>T)
c.195C>T (p.Thr65=)
c.9C>T (p.Thr3=)
c.750C>T (p.Thr250=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.1754938G>CCA471983209CTSDc.795C>G (p.Thr265=)
c.690C>G (p.Thr230=)
c.220C>G
n.411C>G
c.774C>G (p.Thr258=)
c.789C>G (p.Thr263=)
n.393C>G
n.3223C>G
n.103C>G
c.*656C>G (n.*656C>G)
c.195C>G (p.Thr65=)
c.9C>G (p.Thr3=)
c.750C>G (p.Thr250=)
11g.1754938G=CA1947826303CTSDc.795C= (p.Thr265=)
c.690C= (p.Thr230=)
c.220C=
n.411C=
c.774C= (p.Thr258=)
c.789C= (p.Thr263=)
n.393C=
n.3223C=
n.103C=
c.*656C= (n.*656C=)
c.195C= (p.Thr65=)
c.9C= (p.Thr3=)
c.750C= (p.Thr250=)
11g.1754938G>TCA471983210CTSDc.795C>A (p.Thr265=)
c.690C>A (p.Thr230=)
c.220C>A
n.411C>A
c.774C>A (p.Thr258=)
c.789C>A (p.Thr263=)
n.393C>A
n.3223C>A
n.103C>A
c.*656C>A (n.*656C>A)
c.195C>A (p.Thr65=)
c.9C>A (p.Thr3=)
c.750C>A (p.Thr250=)
11g.1754939G>ACA379095168CTSDc.794C>T (p.Thr265Ile)
c.689C>T (p.Thr230Ile)
c.219C>T
n.410C>T
c.773C>T (p.Thr258Ile)
c.788C>T (p.Thr263Ile)
n.392C>T
n.3222C>T
n.102C>T
c.*655C>T (n.*655C>T)
c.194C>T (p.Thr65Ile)
c.8C>T (p.Thr3Ile)
c.749C>T (p.Thr250Ile)
 gnomAD v4
11g.1754939G>CCA379095170CTSDc.794C>G (p.Thr265Ser)
c.689C>G (p.Thr230Ser)
c.219C>G
n.410C>G
c.773C>G (p.Thr258Ser)
c.788C>G (p.Thr263Ser)
n.392C>G
n.3222C>G
n.102C>G
c.*655C>G (n.*655C>G)
c.194C>G (p.Thr65Ser)
c.8C>G (p.Thr3Ser)
c.749C>G (p.Thr250Ser)
11g.1754939G>TCA379095172CTSDc.794C>A (p.Thr265Asn)
c.689C>A (p.Thr230Asn)
c.219C>A
n.410C>A
c.773C>A (p.Thr258Asn)
c.788C>A (p.Thr263Asn)
n.392C>A
n.3222C>A
n.102C>A
c.*655C>A (n.*655C>A)
c.194C>A (p.Thr65Asn)
c.8C>A (p.Thr3Asn)
c.749C>A (p.Thr250Asn)
11g.1754940T>ACA379095174CTSDc.793A>T (p.Thr265Ser)
c.688A>T (p.Thr230Ser)
c.218A>T
n.409A>T
c.772A>T (p.Thr258Ser)
c.787A>T (p.Thr263Ser)
n.391A>T
n.3221A>T
n.101A>T
c.*654A>T (n.*654A>T)
c.193A>T (p.Thr65Ser)
c.7A>T (p.Thr3Ser)
c.748A>T (p.Thr250Ser)
11g.1754940T>CCA379095176CTSDc.793A>G (p.Thr265Ala)
c.688A>G (p.Thr230Ala)
c.218A>G
n.409A>G
c.772A>G (p.Thr258Ala)
c.787A>G (p.Thr263Ala)
n.391A>G
n.3221A>G
n.101A>G
c.*654A>G (n.*654A>G)
c.193A>G (p.Thr65Ala)
c.7A>G (p.Thr3Ala)
c.748A>G (p.Thr250Ala)
11g.1754940T>GCA379095177CTSDc.793A>C (p.Thr265Pro)
c.688A>C (p.Thr230Pro)
c.218A>C
n.409A>C
c.772A>C (p.Thr258Pro)
c.787A>C (p.Thr263Pro)
n.391A>C
n.3221A>C
n.101A>C
c.*654A>C (n.*654A>C)
c.193A>C (p.Thr65Pro)
c.7A>C (p.Thr3Pro)
c.748A>C (p.Thr250Pro)
11g.1754941G>ACA471983227CTSDc.792C>T (p.Val264=)
c.687C>T (p.Val229=)
c.217C>T
n.408C>T
c.771C>T (p.Val257=)
c.786C>T (p.Val262=)
n.390C>T
n.3220C>T
n.100C>T
c.*653C>T (n.*653C>T)
c.192C>T (p.Val64=)
c.6C>T (p.Val2=)
c.747C>T (p.Val249=)
 gnomAD v4
11g.1754941G>CCA471983223CTSDc.792C>G (p.Val264=)
c.687C>G (p.Val229=)
c.217C>G
n.408C>G
c.771C>G (p.Val257=)
c.786C>G (p.Val262=)
n.390C>G
n.3220C>G
n.100C>G
c.*653C>G (n.*653C>G)
c.192C>G (p.Val64=)
c.6C>G (p.Val2=)
c.747C>G (p.Val249=)
11g.1754941G>TCA471983225CTSDc.792C>A (p.Val264=)
c.687C>A (p.Val229=)
c.217C>A
n.408C>A
c.771C>A (p.Val257=)
c.786C>A (p.Val262=)
n.390C>A
n.3220C>A
n.100C>A
c.*653C>A (n.*653C>A)
c.192C>A (p.Val64=)
c.6C>A (p.Val2=)
c.747C>A (p.Val249=)
11g.1754942A>CCA379095179CTSDc.791T>G (p.Val264Gly)
c.686T>G (p.Val229Gly)
c.216T>G
n.407T>G
c.770T>G (p.Val257Gly)
c.785T>G (p.Val262Gly)
n.389T>G
n.3219T>G
n.99T>G
c.*652T>G (n.*652T>G)
c.191T>G (p.Val64Gly)
c.5T>G (p.Val2Gly)
c.746T>G (p.Val249Gly)
11g.1754942A>GCA379095180CTSDc.791T>C (p.Val264Ala)
c.686T>C (p.Val229Ala)
c.216T>C
n.407T>C
c.770T>C (p.Val257Ala)
c.785T>C (p.Val262Ala)
n.389T>C
n.3219T>C
n.99T>C
c.*652T>C (n.*652T>C)
c.191T>C (p.Val64Ala)
c.5T>C (p.Val2Ala)
c.746T>C (p.Val249Ala)
11g.1754942A>TCA379095183CTSDc.791T>A (p.Val264Asp)
c.686T>A (p.Val229Asp)
c.216T>A
n.407T>A
c.770T>A (p.Val257Asp)
c.785T>A (p.Val262Asp)
n.389T>A
n.3219T>A
n.99T>A
c.*652T>A (n.*652T>A)
c.191T>A (p.Val64Asp)
c.5T>A (p.Val2Asp)
c.746T>A (p.Val249Asp)
11g.1754943C>ACA379095190CTSDc.790G>T (p.Val264Phe)
c.685G>T (p.Val229Phe)
c.215G>T
n.406G>T
c.769G>T (p.Val257Phe)
c.784G>T (p.Val262Phe)
n.388G>T
n.3218G>T
n.98G>T
c.*651G>T (n.*651G>T)
c.190G>T (p.Val64Phe)
c.4G>T (p.Val2Phe)
c.745G>T (p.Val249Phe)
11g.1754943C>GCA379095187CTSDc.790G>C (p.Val264Leu)
c.685G>C (p.Val229Leu)
c.215G>C
n.406G>C
c.769G>C (p.Val257Leu)
c.784G>C (p.Val262Leu)
n.388G>C
n.3218G>C
n.98G>C
c.*651G>C (n.*651G>C)
c.190G>C (p.Val64Leu)
c.4G>C (p.Val2Leu)
c.745G>C (p.Val249Leu)
11g.1754943C>TCA379095185CTSDc.790G>A (p.Val264Ile)
c.685G>A (p.Val229Ile)
c.215G>A
n.406G>A
c.769G>A (p.Val257Ile)
c.784G>A (p.Val262Ile)
n.388G>A
n.3218G>A
n.98G>A
c.*651G>A (n.*651G>A)
c.190G>A (p.Val64Ile)
c.4G>A (p.Val2Ile)
c.745G>A (p.Val249Ile)
 COSMIC
11g.1754944A>CCA379095192CTSDc.789T>G (p.Asn263Lys)
c.684T>G (p.Asn228Lys)
c.214T>G
n.405T>G
c.768T>G (p.Asn256Lys)
c.783T>G (p.Asn261Lys)
n.387T>G
n.3217T>G
n.97T>G
c.*650T>G (n.*650T>G)
c.189T>G (p.Asn63Lys)
c.3T>G (p.Asn1Lys)
c.744T>G (p.Asn248Lys)
11g.1754944A>GCA471983244CTSDc.789T>C (p.Asn263=)
c.684T>C (p.Asn228=)
c.214T>C
n.405T>C
c.768T>C (p.Asn256=)
c.783T>C (p.Asn261=)
n.387T>C
n.3217T>C
n.97T>C
c.*650T>C (n.*650T>C)
c.189T>C (p.Asn63=)
c.3T>C (p.Asn1=)
c.744T>C (p.Asn248=)
11g.1754944A>TCA379095194CTSDc.789T>A (p.Asn263Lys)
c.684T>A (p.Asn228Lys)
c.214T>A
n.405T>A
c.768T>A (p.Asn256Lys)
c.783T>A (p.Asn261Lys)
n.387T>A
n.3217T>A
n.97T>A
c.*650T>A (n.*650T>A)
c.189T>A (p.Asn63Lys)
c.3T>A (p.Asn1Lys)
c.744T>A (p.Asn248Lys)
11g.1754945T>ACA379095196CTSDc.788A>T (p.Asn263Ile)
c.683A>T (p.Asn228Ile)
c.213A>T
n.404A>T
c.767A>T (p.Asn256Ile)
c.782A>T (p.Asn261Ile)
n.386A>T
n.3216A>T
n.96A>T
c.*649A>T (n.*649A>T)
c.188A>T (p.Asn63Ile)
c.2A>T (p.Asn1Ile)
c.743A>T (p.Asn248Ile)
11g.1754945T>CCA379095197CTSDc.788A>G (p.Asn263Ser)
c.683A>G (p.Asn228Ser)
c.213A>G
n.404A>G
c.767A>G (p.Asn256Ser)
c.782A>G (p.Asn261Ser)
n.386A>G
n.3216A>G
n.96A>G
c.*649A>G (n.*649A>G)
c.188A>G (p.Asn63Ser)
c.2A>G (p.Asn1Ser)
c.743A>G (p.Asn248Ser)
 dbSNP gnomAD v2
11g.1754945T>GCA379095200CTSDc.788A>C (p.Asn263Thr)
c.683A>C (p.Asn228Thr)
c.213A>C
n.404A>C
c.767A>C (p.Asn256Thr)
c.782A>C (p.Asn261Thr)
n.386A>C
n.3216A>C
n.96A>C
c.*649A>C (n.*649A>C)
c.188A>C (p.Asn63Thr)
c.2A>C (p.Asn1Thr)
c.743A>C (p.Asn248Thr)
11g.1754945T=CA1947826304CTSDc.788A= (p.Asn263=)
c.683A= (p.Asn228=)
c.213A=
n.404A=
c.767A= (p.Asn256=)
c.782A= (p.Asn261=)
n.386A=
n.3216A=
n.96A=
c.*649A= (n.*649A=)
c.188A= (p.Asn63=)
c.2A= (p.Asn1=)
c.743A= (p.Asn248=)
11g.1754946T>ACA379095202CTSDc.787A>T (p.Asn263Tyr)
c.682A>T (p.Asn228Tyr)
c.212A>T
n.403A>T
c.766A>T (p.Asn256Tyr)
c.781A>T (p.Asn261Tyr)
n.385A>T
n.3215A>T
n.95A>T
c.*648A>T (n.*648A>T)
c.187A>T (p.Asn63Tyr)
c.1A>T (p.Asn1Tyr)
c.742A>T (p.Asn248Tyr)
11g.1754946T>CCA379095203CTSDc.787A>G (p.Asn263Asp)
c.682A>G (p.Asn228Asp)
c.212A>G
n.403A>G
c.766A>G (p.Asn256Asp)
c.781A>G (p.Asn261Asp)
n.385A>G
n.3215A>G
n.95A>G
c.*648A>G (n.*648A>G)
c.187A>G (p.Asn63Asp)
c.1A>G (p.Asn1Asp)
c.742A>G (p.Asn248Asp)
 dbSNP
11g.1754946T>GCA379095204CTSDc.787A>C (p.Asn263His)
c.682A>C (p.Asn228His)
c.212A>C
n.403A>C
c.766A>C (p.Asn256His)
c.781A>C (p.Asn261His)
n.385A>C
n.3215A>C
n.95A>C
c.*648A>C (n.*648A>C)
c.187A>C (p.Asn63His)
c.1A>C (p.Asn1His)
c.742A>C (p.Asn248His)
11g.1754946T=CA1947826305CTSDc.787A= (p.Asn263=)
c.682A= (p.Asn228=)
c.212A=
n.403A=
c.766A= (p.Asn256=)
c.781A= (p.Asn261=)
n.385A=
n.3215A=
n.95A=
c.*648A= (n.*648A=)
c.187A= (p.Asn63=)
c.1A= (p.Asn1=)
c.742A= (p.Asn248=)
11g.1754947C>ACA471983268CTSDc.786G>T (p.Leu262=)
c.681G>T (p.Leu227=)
c.211G>T
n.402G>T
c.765G>T (p.Leu255=)
c.780G>T (p.Leu260=)
n.384G>T
n.3214G>T
n.94G>T
c.*647G>T (n.*647G>T)
c.186G>T (p.Leu62=)
c.741G>T (p.Leu247=)
11g.1754947C>GCA471983262CTSDc.786G>C (p.Leu262=)
c.681G>C (p.Leu227=)
c.211G>C
n.402G>C
c.765G>C (p.Leu255=)
c.780G>C (p.Leu260=)
n.384G>C
n.3214G>C
n.94G>C
c.*647G>C (n.*647G>C)
c.186G>C (p.Leu62=)
c.741G>C (p.Leu247=)
11g.1754947C>TCA471983265CTSDc.786G>A (p.Leu262=)
c.681G>A (p.Leu227=)
c.211G>A
n.402G>A
c.765G>A (p.Leu255=)
c.780G>A (p.Leu260=)
n.384G>A
n.3214G>A
n.94G>A
c.*647G>A (n.*647G>A)
c.186G>A (p.Leu62=)
c.741G>A (p.Leu247=)
 gnomAD v4
11g.1754948A>CCA379095206CTSDc.785T>G (p.Leu262Arg)
c.680T>G (p.Leu227Arg)
c.210T>G
n.401T>G
c.764T>G (p.Leu255Arg)
c.779T>G (p.Leu260Arg)
n.383T>G
n.3213T>G
n.93T>G
c.*646T>G (n.*646T>G)
c.185T>G (p.Leu62Arg)
c.740T>G (p.Leu247Arg)
11g.1754948A>GCA379095208CTSDc.785T>C (p.Leu262Pro)
c.680T>C (p.Leu227Pro)
c.210T>C
n.401T>C
c.764T>C (p.Leu255Pro)
c.779T>C (p.Leu260Pro)
n.383T>C
n.3213T>C
n.93T>C
c.*646T>C (n.*646T>C)
c.185T>C (p.Leu62Pro)
c.740T>C (p.Leu247Pro)
11g.1754948A>TCA379095210CTSDc.785T>A (p.Leu262Gln)
c.680T>A (p.Leu227Gln)
c.210T>A
n.401T>A
c.764T>A (p.Leu255Gln)
c.779T>A (p.Leu260Gln)
n.383T>A
n.3213T>A
n.93T>A
c.*646T>A (n.*646T>A)
c.185T>A (p.Leu62Gln)
c.740T>A (p.Leu247Gln)
11g.1754949G>ACA5814067CTSDc.784C>T (p.Leu262=)
c.679C>T (p.Leu227=)
c.209C>T
n.400C>T
c.763C>T (p.Leu255=)
c.778C>T (p.Leu260=)
n.382C>T
n.3212C>T
n.92C>T
c.*645C>T (n.*645C>T)
c.184C>T (p.Leu62=)
c.739C>T (p.Leu247=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1754949G>CCA379095214CTSDc.784C>G (p.Leu262Val)
c.679C>G (p.Leu227Val)
c.209C>G
n.400C>G
c.763C>G (p.Leu255Val)
c.778C>G (p.Leu260Val)
n.382C>G
n.3212C>G
n.92C>G
c.*645C>G (n.*645C>G)
c.184C>G (p.Leu62Val)
c.739C>G (p.Leu247Val)
11g.1754949G=CA1947826306CTSDc.784C= (p.Leu262=)
c.679C= (p.Leu227=)
c.209C=
n.400C=
c.763C= (p.Leu255=)
c.778C= (p.Leu260=)
n.382C=
n.3212C=
n.92C=
c.*645C= (n.*645C=)
c.184C= (p.Leu62=)
c.739C= (p.Leu247=)
11g.1754949G>TCA379095215CTSDc.784C>A (p.Leu262Met)
c.679C>A (p.Leu227Met)
c.209C>A
n.400C>A
c.763C>A (p.Leu255Met)
c.778C>A (p.Leu260Met)
n.382C>A
n.3212C>A
n.92C>A
c.*645C>A (n.*645C>A)
c.184C>A (p.Leu62Met)
c.739C>A (p.Leu247Met)
11g.1754950G>ACA471983289CTSDc.783C>T (p.Tyr261=)
c.678C>T (p.Tyr226=)
c.208C>T
n.399C>T
c.762C>T (p.Tyr254=)
c.777C>T (p.Tyr259=)
n.381C>T
n.3211C>T
n.91C>T
c.*644C>T (n.*644C>T)
c.183C>T (p.Tyr61=)
c.738C>T (p.Tyr246=)
 dbSNP gnomAD v4
11g.1754950G>CCA379095217CTSDc.783C>G (p.Tyr261Ter)
c.678C>G (p.Tyr226Ter)
c.208C>G
n.399C>G
c.762C>G (p.Tyr254Ter)
c.777C>G (p.Tyr259Ter)
n.381C>G
n.3211C>G
n.91C>G
c.*644C>G (n.*644C>G)
c.183C>G (p.Tyr61Ter)
c.738C>G (p.Tyr246Ter)
11g.1754950G=CA1947826307CTSDc.783C= (p.Tyr261=)
c.678C= (p.Tyr226=)
c.208C=
n.399C=
c.762C= (p.Tyr254=)
c.777C= (p.Tyr259=)
n.381C=
n.3211C=
n.91C=
c.*644C= (n.*644C=)
c.183C= (p.Tyr61=)
c.738C= (p.Tyr246=)
11g.1754950G>TCA379095220CTSDc.783C>A (p.Tyr261Ter)
c.678C>A (p.Tyr226Ter)
c.208C>A
n.399C>A
c.762C>A (p.Tyr254Ter)
c.777C>A (p.Tyr259Ter)
n.381C>A
n.3211C>A
n.91C>A
c.*644C>A (n.*644C>A)
c.183C>A (p.Tyr61Ter)
c.738C>A (p.Tyr246Ter)
11g.1754951T>ACA379095222CTSDc.782A>T (p.Tyr261Phe)
c.677A>T (p.Tyr226Phe)
c.207A>T
n.398A>T
c.761A>T (p.Tyr254Phe)
c.776A>T (p.Tyr259Phe)
n.380A>T
n.3210A>T
n.90A>T
c.*643A>T (n.*643A>T)
c.182A>T (p.Tyr61Phe)
c.737A>T (p.Tyr246Phe)
 gnomAD v4
11g.1754951T>CCA379095224CTSDc.782A>G (p.Tyr261Cys)
c.677A>G (p.Tyr226Cys)
c.207A>G
n.398A>G
c.761A>G (p.Tyr254Cys)
c.776A>G (p.Tyr259Cys)
n.380A>G
n.3210A>G
n.90A>G
c.*643A>G (n.*643A>G)
c.182A>G (p.Tyr61Cys)
c.737A>G (p.Tyr246Cys)
11g.1754951T>GCA379095225CTSDc.782A>C (p.Tyr261Ser)
c.677A>C (p.Tyr226Ser)
c.207A>C
n.398A>C
c.761A>C (p.Tyr254Ser)
c.776A>C (p.Tyr259Ser)
n.380A>C
n.3210A>C
n.90A>C
c.*643A>C (n.*643A>C)
c.182A>C (p.Tyr61Ser)
c.737A>C (p.Tyr246Ser)
11g.1754952A>CCA379095227CTSDc.781T>G (p.Tyr261Asp)
c.676T>G (p.Tyr226Asp)
c.206T>G
n.397T>G
c.760T>G (p.Tyr254Asp)
c.775T>G (p.Tyr259Asp)
n.379T>G
n.3209T>G
n.89T>G
c.*642T>G (n.*642T>G)
c.181T>G (p.Tyr61Asp)
c.736T>G (p.Tyr246Asp)
11g.1754952A>GCA379095229CTSDc.781T>C (p.Tyr261His)
c.676T>C (p.Tyr226His)
c.206T>C
n.397T>C
c.760T>C (p.Tyr254His)
c.775T>C (p.Tyr259His)
n.379T>C
n.3209T>C
n.89T>C
c.*642T>C (n.*642T>C)
c.181T>C (p.Tyr61His)
c.736T>C (p.Tyr246His)
11g.1754952A>TCA379095231CTSDc.781T>A (p.Tyr261Asn)
c.676T>A (p.Tyr226Asn)
c.206T>A
n.397T>A
c.760T>A (p.Tyr254Asn)
c.775T>A (p.Tyr259Asn)
n.379T>A
n.3209T>A
n.89T>A
c.*642T>A (n.*642T>A)
c.181T>A (p.Tyr61Asn)
c.736T>A (p.Tyr246Asn)
11g.1754953G>ACA471983312CTSDc.780C>T (p.Ser260=)
c.675C>T (p.Ser225=)
c.205C>T
n.396C>T
c.759C>T (p.Ser253=)
c.774C>T (p.Ser258=)
n.378C>T
n.3208C>T
n.88C>T
c.*641C>T (n.*641C>T)
c.180C>T (p.Ser60=)
c.735C>T (p.Ser245=)
 ClinVar dbSNP gnomAD v4
11g.1754953G>CCA471983310CTSDc.780C>G (p.Ser260=)
c.675C>G (p.Ser225=)
c.205C>G
n.396C>G
c.759C>G (p.Ser253=)
c.774C>G (p.Ser258=)
n.378C>G
n.3208C>G
n.88C>G
c.*641C>G (n.*641C>G)
c.180C>G (p.Ser60=)
c.735C>G (p.Ser245=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.1754953G=CA1947826308CTSDc.780C= (p.Ser260=)
c.675C= (p.Ser225=)
c.205C=
n.396C=
c.759C= (p.Ser253=)
c.774C= (p.Ser258=)
n.378C=
n.3208C=
n.88C=
c.*641C= (n.*641C=)
c.180C= (p.Ser60=)
c.735C= (p.Ser245=)
11g.1754953G>TCA471983311CTSDc.780C>A (p.Ser260=)
c.675C>A (p.Ser225=)
c.205C>A
n.396C>A
c.759C>A (p.Ser253=)
c.774C>A (p.Ser258=)
n.378C>A
n.3208C>A
n.88C>A
c.*641C>A (n.*641C>A)
c.180C>A (p.Ser60=)
c.735C>A (p.Ser245=)
11g.1754954G>ACA379095233CTSDc.779C>T (p.Ser260Phe)
c.674C>T (p.Ser225Phe)
c.204C>T
n.395C>T
c.758C>T (p.Ser253Phe)
c.773C>T (p.Ser258Phe)
n.377C>T
n.3207C>T
n.87C>T
c.*640C>T (n.*640C>T)
c.179C>T (p.Ser60Phe)
c.734C>T (p.Ser245Phe)
 gnomAD v4
11g.1754954G>CCA379095235CTSDc.779C>G (p.Ser260Cys)
c.674C>G (p.Ser225Cys)
c.204C>G
n.395C>G
c.758C>G (p.Ser253Cys)
c.773C>G (p.Ser258Cys)
n.377C>G
n.3207C>G
n.87C>G
c.*640C>G (n.*640C>G)
c.179C>G (p.Ser60Cys)
c.734C>G (p.Ser245Cys)
11g.1754954G>TCA379095236CTSDc.779C>A (p.Ser260Tyr)
c.674C>A (p.Ser225Tyr)
c.204C>A
n.395C>A
c.758C>A (p.Ser253Tyr)
c.773C>A (p.Ser258Tyr)
n.377C>A
n.3207C>A
n.87C>A
c.*640C>A (n.*640C>A)
c.179C>A (p.Ser60Tyr)
c.734C>A (p.Ser245Tyr)
11g.1754955A>CCA379095237CTSDc.778T>G (p.Ser260Ala)
c.673T>G (p.Ser225Ala)
c.203T>G
n.394T>G
c.757T>G (p.Ser253Ala)
c.772T>G (p.Ser258Ala)
n.376T>G
n.3206T>G
n.86T>G
c.*639T>G (n.*639T>G)
c.178T>G (p.Ser60Ala)
c.733T>G (p.Ser245Ala)
11g.1754955A>GCA379095238CTSDc.778T>C (p.Ser260Pro)
c.673T>C (p.Ser225Pro)
c.203T>C
n.394T>C
c.757T>C (p.Ser253Pro)
c.772T>C (p.Ser258Pro)
n.376T>C
n.3206T>C
n.86T>C
c.*639T>C (n.*639T>C)
c.178T>C (p.Ser60Pro)
c.733T>C (p.Ser245Pro)
11g.1754955A>TCA379095239CTSDc.778T>A (p.Ser260Thr)
c.673T>A (p.Ser225Thr)
c.203T>A
n.394T>A
c.757T>A (p.Ser253Thr)
c.772T>A (p.Ser258Thr)
n.376T>A
n.3206T>A
n.86T>A
c.*639T>A (n.*639T>A)
c.178T>A (p.Ser60Thr)
c.733T>A (p.Ser245Thr)
11g.1754956C>ACA471983338CTSDc.777G>T (p.Leu259=)
c.672G>T (p.Leu224=)
c.202G>T
n.393G>T
c.756G>T (p.Leu252=)
c.771G>T (p.Leu257=)
n.375G>T
n.3205G>T
n.85G>T
c.*638G>T (n.*638G>T)
c.177G>T (p.Leu59=)
c.732G>T (p.Leu244=)
11g.1754956C>GCA471983351CTSDc.777G>C (p.Leu259=)
c.672G>C (p.Leu224=)
c.202G>C
n.393G>C
c.756G>C (p.Leu252=)
c.771G>C (p.Leu257=)
n.375G>C
n.3205G>C
n.85G>C
c.*638G>C (n.*638G>C)
c.177G>C (p.Leu59=)
c.732G>C (p.Leu244=)
11g.1754956C>TCA471983359CTSDc.777G>A (p.Leu259=)
c.672G>A (p.Leu224=)
c.202G>A
n.393G>A
c.756G>A (p.Leu252=)
c.771G>A (p.Leu257=)
n.375G>A
n.3205G>A
n.85G>A
c.*638G>A (n.*638G>A)
c.177G>A (p.Leu59=)
c.732G>A (p.Leu244=)
11g.1754957A>CCA379095242CTSDc.776T>G (p.Leu259Arg)
c.671T>G (p.Leu224Arg)
c.201T>G
n.392T>G
c.755T>G (p.Leu252Arg)
c.770T>G (p.Leu257Arg)
n.374T>G
n.3204T>G
n.84T>G
c.*637T>G (n.*637T>G)
c.176T>G (p.Leu59Arg)
c.731T>G (p.Leu244Arg)
11g.1754957A>GCA379095245CTSDc.776T>C (p.Leu259Pro)
c.671T>C (p.Leu224Pro)
c.201T>C
n.392T>C
c.755T>C (p.Leu252Pro)
c.770T>C (p.Leu257Pro)
n.374T>C
n.3204T>C
n.84T>C
c.*637T>C (n.*637T>C)
c.176T>C (p.Leu59Pro)
c.731T>C (p.Leu244Pro)
11g.1754957A>TCA379095244CTSDc.776T>A (p.Leu259Gln)
c.671T>A (p.Leu224Gln)
c.201T>A
n.392T>A
c.755T>A (p.Leu252Gln)
c.770T>A (p.Leu257Gln)
n.374T>A
n.3204T>A
n.84T>A
c.*637T>A (n.*637T>A)
c.176T>A (p.Leu59Gln)
c.731T>A (p.Leu244Gln)
11g.1754958G>ACA471983376CTSDc.775C>T (p.Leu259=)
c.670C>T (p.Leu224=)
c.200C>T
n.391C>T
c.754C>T (p.Leu252=)
c.769C>T (p.Leu257=)
n.373C>T
n.3203C>T
n.83C>T
c.*636C>T (n.*636C>T)
c.175C>T (p.Leu59=)
c.730C>T (p.Leu244=)
 ClinVar
11g.1754958G>CCA379095246CTSDc.775C>G (p.Leu259Val)
c.670C>G (p.Leu224Val)
c.200C>G
n.391C>G
c.754C>G (p.Leu252Val)
c.769C>G (p.Leu257Val)
n.373C>G
n.3203C>G
n.83C>G
c.*636C>G (n.*636C>G)
c.175C>G (p.Leu59Val)
c.730C>G (p.Leu244Val)
 gnomAD v4
11g.1754958G>TCA379095248CTSDc.775C>A (p.Leu259Met)
c.670C>A (p.Leu224Met)
c.200C>A
n.391C>A
c.754C>A (p.Leu252Met)
c.769C>A (p.Leu257Met)
n.373C>A
n.3203C>A
n.83C>A
c.*636C>A (n.*636C>A)
c.175C>A (p.Leu59Met)
c.730C>A (p.Leu244Met)
11g.1754959A>CCA471983383CTSDc.774T>G (p.Ser258=)
c.669T>G (p.Ser223=)
c.199T>G
n.390T>G
c.753T>G (p.Ser251=)
c.768T>G (p.Ser256=)
n.372T>G
n.3202T>G
n.82T>G
c.*635T>G (n.*635T>G)
c.174T>G (p.Ser58=)
c.729T>G (p.Ser243=)
11g.1754959A>GCA471983380CTSDc.774T>C (p.Ser258=)
c.669T>C (p.Ser223=)
c.199T>C
n.390T>C
c.753T>C (p.Ser251=)
c.768T>C (p.Ser256=)
n.372T>C
n.3202T>C
n.82T>C
c.*635T>C (n.*635T>C)
c.174T>C (p.Ser58=)
c.729T>C (p.Ser243=)
11g.1754959A>TCA471983377CTSDc.774T>A (p.Ser258=)
c.669T>A (p.Ser223=)
c.199T>A
n.390T>A
c.753T>A (p.Ser251=)
c.768T>A (p.Ser256=)
n.372T>A
n.3202T>A
n.82T>A
c.*635T>A (n.*635T>A)
c.174T>A (p.Ser58=)
c.729T>A (p.Ser243=)
11g.1754960G>ACA379095250CTSDc.773C>T (p.Ser258Phe)
c.668C>T (p.Ser223Phe)
c.198C>T
n.389C>T
c.752C>T (p.Ser251Phe)
c.767C>T (p.Ser256Phe)
n.371C>T
n.3201C>T
n.81C>T
c.*634C>T (n.*634C>T)
c.173C>T (p.Ser58Phe)
c.728C>T (p.Ser243Phe)
 gnomAD v4
11g.1754960G>CCA379095253CTSDc.773C>G (p.Ser258Cys)
c.668C>G (p.Ser223Cys)
c.198C>G
n.389C>G
c.752C>G (p.Ser251Cys)
c.767C>G (p.Ser256Cys)
n.371C>G
n.3201C>G
n.81C>G
c.*634C>G (n.*634C>G)
c.173C>G (p.Ser58Cys)
c.728C>G (p.Ser243Cys)
11g.1754960G>TCA379095252CTSDc.773C>A (p.Ser258Tyr)
c.668C>A (p.Ser223Tyr)
c.198C>A
n.389C>A
c.752C>A (p.Ser251Tyr)
c.767C>A (p.Ser256Tyr)
n.371C>A
n.3201C>A
n.81C>A
c.*634C>A (n.*634C>A)
c.173C>A (p.Ser58Tyr)
c.728C>A (p.Ser243Tyr)
11g.1754961A>CCA379095255CTSDc.772T>G (p.Ser258Ala)
c.667T>G (p.Ser223Ala)
c.197T>G
n.388T>G
c.751T>G (p.Ser251Ala)
c.766T>G (p.Ser256Ala)
n.370T>G
n.3200T>G
n.80T>G
c.*633T>G (n.*633T>G)
c.172T>G (p.Ser58Ala)
c.727T>G (p.Ser243Ala)
11g.1754961A>GCA379095257CTSDc.772T>C (p.Ser258Pro)
c.667T>C (p.Ser223Pro)
c.197T>C
n.388T>C
c.751T>C (p.Ser251Pro)
c.766T>C (p.Ser256Pro)
n.370T>C
n.3200T>C
n.80T>C
c.*633T>C (n.*633T>C)
c.172T>C (p.Ser58Pro)
c.727T>C (p.Ser243Pro)
11g.1754961A>TCA379095259CTSDc.772T>A (p.Ser258Thr)
c.667T>A (p.Ser223Thr)
c.197T>A
n.388T>A
c.751T>A (p.Ser251Thr)
c.766T>A (p.Ser256Thr)
n.370T>A
n.3200T>A
n.80T>A
c.*633T>A (n.*633T>A)
c.172T>A (p.Ser58Thr)
c.727T>A (p.Ser243Thr)
11g.1754962A=CA1947826309CTSDc.771T= (p.Gly257=)
c.666T= (p.Gly222=)
c.196T=
n.387T=
c.750T= (p.Gly250=)
c.765T= (p.Gly255=)
n.369T=
n.3199T=
n.79T=
c.*632T= (n.*632T=)
c.171T= (p.Gly57=)
c.726T= (p.Gly242=)
11g.1754962A>CCA471983404CTSDc.771T>G (p.Gly257=)
c.666T>G (p.Gly222=)
c.196T>G
n.387T>G
c.750T>G (p.Gly250=)
c.765T>G (p.Gly255=)
n.369T>G
n.3199T>G
n.79T>G
c.*632T>G (n.*632T>G)
c.171T>G (p.Gly57=)
c.726T>G (p.Gly242=)
11g.1754962A>GCA5814068CTSDc.771T>C (p.Gly257=)
c.666T>C (p.Gly222=)
c.196T>C
n.387T>C
c.750T>C (p.Gly250=)
c.765T>C (p.Gly255=)
n.369T>C
n.3199T>C
n.79T>C
c.*632T>C (n.*632T>C)
c.171T>C (p.Gly57=)
c.726T>C (p.Gly242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1754962A>TCA471983403CTSDc.771T>A (p.Gly257=)
c.666T>A (p.Gly222=)
c.196T>A
n.387T>A
c.750T>A (p.Gly250=)
c.765T>A (p.Gly255=)
n.369T>A
n.3199T>A
n.79T>A
c.*632T>A (n.*632T>A)
c.171T>A (p.Gly57=)
c.726T>A (p.Gly242=)
11g.1754963C>ACA379095263CTSDc.770G>T (p.Gly257Val)
c.665G>T (p.Gly222Val)
c.195G>T
n.386G>T
c.749G>T (p.Gly250Val)
c.764G>T (p.Gly255Val)
n.368G>T
n.3198G>T
n.78G>T
c.*631G>T (n.*631G>T)
c.170G>T (p.Gly57Val)
c.725G>T (p.Gly242Val)
 gnomAD v4 COSMIC
11g.1754963C=CA1947826310CTSDc.770G= (p.Gly257=)
c.665G= (p.Gly222=)
c.195G=
n.386G=
c.749G= (p.Gly250=)
c.764G= (p.Gly255=)
n.368G=
n.3198G=
n.78G=
c.*631G= (n.*631G=)
c.170G= (p.Gly57=)
c.725G= (p.Gly242=)
11g.1754963C>GCA16042824CTSDc.770G>C (p.Gly257Ala)
c.665G>C (p.Gly222Ala)
c.195G>C
n.386G>C
c.749G>C (p.Gly250Ala)
c.764G>C (p.Gly255Ala)
n.368G>C
n.3198G>C
n.78G>C
c.*631G>C (n.*631G>C)
c.170G>C (p.Gly57Ala)
c.725G>C (p.Gly242Ala)
 ClinVar dbSNP gnomAD v4
11g.1754963C>TCA379095265CTSDc.770G>A (p.Gly257Asp)
c.665G>A (p.Gly222Asp)
c.195G>A
n.386G>A
c.749G>A (p.Gly250Asp)
c.764G>A (p.Gly255Asp)
n.368G>A
n.3198G>A
n.78G>A
c.*631G>A (n.*631G>A)
c.170G>A (p.Gly57Asp)
c.725G>A (p.Gly242Asp)
11g.1754964C>ACA379095270CTSDc.769G>T (p.Gly257Cys)
c.664G>T (p.Gly222Cys)
c.194G>T
n.385G>T
c.748G>T (p.Gly250Cys)
c.763G>T (p.Gly255Cys)
n.367G>T
n.3197G>T
n.77G>T
c.*630G>T (n.*630G>T)
c.169G>T (p.Gly57Cys)
c.724G>T (p.Gly242Cys)
11g.1754964C=CA1947826311CTSDc.769G= (p.Gly257=)
c.664G= (p.Gly222=)
c.194G=
n.385G=
c.748G= (p.Gly250=)
c.763G= (p.Gly255=)
n.367G=
n.3197G=
n.77G=
c.*630G= (n.*630G=)
c.169G= (p.Gly57=)
c.724G= (p.Gly242=)
11g.1754964C>GCA379095271CTSDc.769G>C (p.Gly257Arg)
c.664G>C (p.Gly222Arg)
c.194G>C
n.385G>C
c.748G>C (p.Gly250Arg)
c.763G>C (p.Gly255Arg)
n.367G>C
n.3197G>C
n.77G>C
c.*630G>C (n.*630G>C)
c.169G>C (p.Gly57Arg)
c.724G>C (p.Gly242Arg)
 gnomAD v4
11g.1754964C>TCA5814069CTSDc.769G>A (p.Gly257Ser)
c.664G>A (p.Gly222Ser)
c.194G>A
n.385G>A
c.748G>A (p.Gly250Ser)
c.763G>A (p.Gly255Ser)
n.367G>A
n.3197G>A
n.77G>A
c.*630G>A (n.*630G>A)
c.169G>A (p.Gly57Ser)
c.724G>A (p.Gly242Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1754965C>ACA379095274CTSDc.768G>T (p.Lys256Asn)
c.663G>T (p.Lys221Asn)
c.193G>T
n.384G>T
c.747G>T (p.Lys249Asn)
c.762G>T (p.Lys254Asn)
n.366G>T
n.3196G>T
n.76G>T
c.*629G>T (n.*629G>T)
c.168G>T (p.Lys56Asn)
c.723G>T (p.Lys241Asn)
11g.1754965C=CA1947826312CTSDc.768G= (p.Lys256=)
c.663G= (p.Lys221=)
c.193G=
n.384G=
c.747G= (p.Lys249=)
c.762G= (p.Lys254=)
n.366G=
n.3196G=
n.76G=
c.*629G= (n.*629G=)
c.168G= (p.Lys56=)
c.723G= (p.Lys241=)
11g.1754965C>GCA379095276CTSDc.768G>C (p.Lys256Asn)
c.663G>C (p.Lys221Asn)
c.193G>C
n.384G>C
c.747G>C (p.Lys249Asn)
c.762G>C (p.Lys254Asn)
n.366G>C
n.3196G>C
n.76G>C
c.*629G>C (n.*629G>C)
c.168G>C (p.Lys56Asn)
c.723G>C (p.Lys241Asn)
 gnomAD v4
11g.1754965C>TCA471983430CTSDc.768G>A (p.Lys256=)
c.663G>A (p.Lys221=)
c.193G>A
n.384G>A
c.747G>A (p.Lys249=)
c.762G>A (p.Lys254=)
n.366G>A
n.3196G>A
n.76G>A
c.*629G>A (n.*629G>A)
c.168G>A (p.Lys56=)
c.723G>A (p.Lys241=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.1754966T>ACA379095278CTSDc.767A>T (p.Lys256Met)
c.662A>T (p.Lys221Met)
c.192A>T
n.383A>T
c.746A>T (p.Lys249Met)
c.761A>T (p.Lys254Met)
n.365A>T
n.3195A>T
n.75A>T
c.*628A>T (n.*628A>T)
c.167A>T (p.Lys56Met)
c.722A>T (p.Lys241Met)
 gnomAD v4
11g.1754966T>CCA379095281CTSDc.767A>G (p.Lys256Arg)
c.662A>G (p.Lys221Arg)
c.192A>G
n.383A>G
c.746A>G (p.Lys249Arg)
c.761A>G (p.Lys254Arg)
n.365A>G
n.3195A>G
n.75A>G
c.*628A>G (n.*628A>G)
c.167A>G (p.Lys56Arg)
c.722A>G (p.Lys241Arg)
 ClinVar
11g.1754966T>GCA379095280CTSDc.767A>C (p.Lys256Thr)
c.662A>C (p.Lys221Thr)
c.192A>C
n.383A>C
c.746A>C (p.Lys249Thr)
c.761A>C (p.Lys254Thr)
n.365A>C
n.3195A>C
n.75A>C
c.*628A>C (n.*628A>C)
c.167A>C (p.Lys56Thr)
c.722A>C (p.Lys241Thr)
11g.1754967T>ACA379095284CTSDc.766A>T (p.Lys256Ter)
c.661A>T (p.Lys221Ter)
c.191A>T
n.382A>T
c.745A>T (p.Lys249Ter)
c.760A>T (p.Lys254Ter)
n.364A>T
n.3194A>T
n.74A>T
c.*627A>T (n.*627A>T)
c.166A>T (p.Lys56Ter)
c.721A>T (p.Lys241Ter)
11g.1754967T>CCA379095286CTSDc.766A>G (p.Lys256Glu)
c.661A>G (p.Lys221Glu)
c.191A>G
n.382A>G
c.745A>G (p.Lys249Glu)
c.760A>G (p.Lys254Glu)
n.364A>G
n.3194A>G
n.74A>G
c.*627A>G (n.*627A>G)
c.166A>G (p.Lys56Glu)
c.721A>G (p.Lys241Glu)
 gnomAD v4
11g.1754967T>GCA379095287CTSDc.766A>C (p.Lys256Gln)
c.661A>C (p.Lys221Gln)
c.191A>C
n.382A>C
c.745A>C (p.Lys249Gln)
c.760A>C (p.Lys254Gln)
n.364A>C
n.3194A>C
n.74A>C
c.*627A>C (n.*627A>C)
c.166A>C (p.Lys56Gln)
c.721A>C (p.Lys241Gln)
11g.1754968G>ACA471983450CTSDc.765C>T (p.Tyr255=)
c.660C>T (p.Tyr220=)
c.190C>T
n.381C>T
c.744C>T (p.Tyr248=)
c.759C>T (p.Tyr253=)
n.363C>T
n.3193C>T
n.73C>T
c.*626C>T (n.*626C>T)
c.165C>T (p.Tyr55=)
c.720C>T (p.Tyr240=)
11g.1754968G>CCA379095290CTSDc.765C>G (p.Tyr255Ter)
c.660C>G (p.Tyr220Ter)
c.190C>G
n.381C>G
c.744C>G (p.Tyr248Ter)
c.759C>G (p.Tyr253Ter)
n.363C>G
n.3193C>G
n.73C>G
c.*626C>G (n.*626C>G)
c.165C>G (p.Tyr55Ter)
c.720C>G (p.Tyr240Ter)
 gnomAD v4
11g.1754968G=CA1947826313CTSDc.765C= (p.Tyr255=)
c.660C= (p.Tyr220=)
c.190C=
n.381C=
c.744C= (p.Tyr248=)
c.759C= (p.Tyr253=)
n.363C=
n.3193C=
n.73C=
c.*626C= (n.*626C=)
c.165C= (p.Tyr55=)
c.720C= (p.Tyr240=)
11g.1754968G>TCA379095291CTSDc.765C>A (p.Tyr255Ter)
c.660C>A (p.Tyr220Ter)
c.190C>A
n.381C>A
c.744C>A (p.Tyr248Ter)
c.759C>A (p.Tyr253Ter)
n.363C>A
n.3193C>A
n.73C>A
c.*626C>A (n.*626C>A)
c.165C>A (p.Tyr55Ter)
c.720C>A (p.Tyr240Ter)
11g.1754969T>ACA379095294CTSDc.764A>T (p.Tyr255Phe)
c.659A>T (p.Tyr220Phe)
c.189A>T
n.380A>T
c.743A>T (p.Tyr248Phe)
c.758A>T (p.Tyr253Phe)
n.362A>T
n.3192A>T
n.72A>T
c.*625A>T (n.*625A>T)
c.164A>T (p.Tyr55Phe)
c.719A>T (p.Tyr240Phe)
11g.1754969T>CCA379095297CTSDc.764A>G (p.Tyr255Cys)
c.659A>G (p.Tyr220Cys)
c.189A>G
n.380A>G
c.743A>G (p.Tyr248Cys)
c.758A>G (p.Tyr253Cys)
n.362A>G
n.3192A>G
n.72A>G
c.*625A>G (n.*625A>G)
c.164A>G (p.Tyr55Cys)
c.719A>G (p.Tyr240Cys)
11g.1754969T>GCA379095298CTSDc.764A>C (p.Tyr255Ser)
c.659A>C (p.Tyr220Ser)
c.189A>C
n.380A>C
c.743A>C (p.Tyr248Ser)
c.758A>C (p.Tyr253Ser)
n.362A>C
n.3192A>C
n.72A>C
c.*625A>C (n.*625A>C)
c.164A>C (p.Tyr55Ser)
c.719A>C (p.Tyr240Ser)
11g.1754969dupCA258043CTSDc.764dup (p.Tyr255Ter)
c.659dup (p.Tyr220Ter)
c.189dup
n.380dup
c.743dup (p.Tyr248Ter)
c.758dup (p.Tyr253Ter)
n.362dup
n.3192dup
n.72dup
c.*625dup (n.*625dup)
c.164dup (p.Tyr55Ter)
c.719dup (p.Tyr240Ter)
 ClinVar dbSNP
11g.1754970A>CCA379095302CTSDc.763T>G (p.Tyr255Asp)
c.658T>G (p.Tyr220Asp)
c.188T>G
n.379T>G
c.742T>G (p.Tyr248Asp)
c.757T>G (p.Tyr253Asp)
n.361T>G
n.3191T>G
n.71T>G
c.*624T>G (n.*624T>G)
c.163T>G (p.Tyr55Asp)
c.718T>G (p.Tyr240Asp)
11g.1754970A>GCA379095301CTSDc.763T>C (p.Tyr255His)
c.658T>C (p.Tyr220His)
c.188T>C
n.379T>C
c.742T>C (p.Tyr248His)
c.757T>C (p.Tyr253His)
n.361T>C
n.3191T>C
n.71T>C
c.*624T>C (n.*624T>C)
c.163T>C (p.Tyr55His)
c.718T>C (p.Tyr240His)
11g.1754970A>TCA379095300CTSDc.763T>A (p.Tyr255Asn)
c.658T>A (p.Tyr220Asn)
c.188T>A
n.379T>A
c.742T>A (p.Tyr248Asn)
c.757T>A (p.Tyr253Asn)
n.361T>A
n.3191T>A
n.71T>A
c.*624T>A (n.*624T>A)
c.163T>A (p.Tyr55Asn)
c.718T>A (p.Tyr240Asn)
11g.1754971A>CCA379095304CTSDc.762T>G (p.Tyr254Ter)
c.657T>G (p.Tyr219Ter)
c.187T>G
n.378T>G
c.741T>G (p.Tyr247Ter)
c.756T>G (p.Tyr252Ter)
n.360T>G
n.3190T>G
n.70T>G
c.*623T>G (n.*623T>G)
c.162T>G (p.Tyr54Ter)
c.717T>G (p.Tyr239Ter)
11g.1754971A>GCA471983517CTSDc.762T>C (p.Tyr254=)
c.657T>C (p.Tyr219=)
c.187T>C
n.378T>C
c.741T>C (p.Tyr247=)
c.756T>C (p.Tyr252=)
n.360T>C
n.3190T>C
n.70T>C
c.*623T>C (n.*623T>C)
c.162T>C (p.Tyr54=)
c.717T>C (p.Tyr239=)
11g.1754971A>TCA379095306CTSDc.762T>A (p.Tyr254Ter)
c.657T>A (p.Tyr219Ter)
c.187T>A
n.378T>A
c.741T>A (p.Tyr247Ter)
c.756T>A (p.Tyr252Ter)
n.360T>A
n.3190T>A
n.70T>A
c.*623T>A (n.*623T>A)
c.162T>A (p.Tyr54Ter)
c.717T>A (p.Tyr239Ter)
11g.1754972T>ACA379095308CTSDc.761A>T (p.Tyr254Phe)
c.656A>T (p.Tyr219Phe)
c.186A>T
n.377A>T
c.740A>T (p.Tyr247Phe)
c.755A>T (p.Tyr252Phe)
n.359A>T
n.3189A>T
n.69A>T
c.*622A>T (n.*622A>T)
c.161A>T (p.Tyr54Phe)
c.716A>T (p.Tyr239Phe)
11g.1754972T>CCA379095310CTSDc.761A>G (p.Tyr254Cys)
c.656A>G (p.Tyr219Cys)
c.186A>G
n.377A>G
c.740A>G (p.Tyr247Cys)
c.755A>G (p.Tyr252Cys)
n.359A>G
n.3189A>G
n.69A>G
c.*622A>G (n.*622A>G)
c.161A>G (p.Tyr54Cys)
c.716A>G (p.Tyr239Cys)
11g.1754972T>GCA379095311CTSDc.761A>C (p.Tyr254Ser)
c.656A>C (p.Tyr219Ser)
c.186A>C
n.377A>C
c.740A>C (p.Tyr247Ser)
c.755A>C (p.Tyr252Ser)
n.359A>C
n.3189A>C
n.69A>C
c.*622A>C (n.*622A>C)
c.161A>C (p.Tyr54Ser)
c.716A>C (p.Tyr239Ser)
11g.1754973A>CCA379095314CTSDc.760T>G (p.Tyr254Asp)
c.655T>G (p.Tyr219Asp)
c.185T>G
n.376T>G
c.739T>G (p.Tyr247Asp)
c.754T>G (p.Tyr252Asp)
n.358T>G
n.3188T>G
n.68T>G
c.*621T>G (n.*621T>G)
c.160T>G (p.Tyr54Asp)
c.715T>G (p.Tyr239Asp)
11g.1754973A>GCA379095315CTSDc.760T>C (p.Tyr254His)
c.655T>C (p.Tyr219His)
c.185T>C
n.376T>C
c.739T>C (p.Tyr247His)
c.754T>C (p.Tyr252His)
n.358T>C
n.3188T>C
n.68T>C
c.*621T>C (n.*621T>C)
c.160T>C (p.Tyr54His)
c.715T>C (p.Tyr239His)
11g.1754973A>TCA379095317CTSDc.760T>A (p.Tyr254Asn)
c.655T>A (p.Tyr219Asn)
c.185T>A
n.376T>A
c.739T>A (p.Tyr247Asn)
c.754T>A (p.Tyr252Asn)
n.358T>A
n.3188T>A
n.68T>A
c.*621T>A (n.*621T>A)
c.160T>A (p.Tyr54Asn)
c.715T>A (p.Tyr239Asn)
11g.1754974C>ACA379095319CTSDc.759G>T (p.Lys253Asn)
c.654G>T (p.Lys218Asn)
c.184G>T
n.375G>T
c.738G>T (p.Lys246Asn)
c.753G>T (p.Lys251Asn)
n.357G>T
n.3187G>T
n.67G>T
c.*620G>T (n.*620G>T)
c.159G>T (p.Lys53Asn)
c.714G>T (p.Lys238Asn)
11g.1754974C>GCA379095320CTSDc.759G>C (p.Lys253Asn)
c.654G>C (p.Lys218Asn)
c.184G>C
n.375G>C
c.738G>C (p.Lys246Asn)
c.753G>C (p.Lys251Asn)
n.357G>C
n.3187G>C
n.67G>C
c.*620G>C (n.*620G>C)
c.159G>C (p.Lys53Asn)
c.714G>C (p.Lys238Asn)
11g.1754974C>TCA471983538CTSDc.759G>A (p.Lys253=)
c.654G>A (p.Lys218=)
c.184G>A
n.375G>A
c.738G>A (p.Lys246=)
c.753G>A (p.Lys251=)
n.357G>A
n.3187G>A
n.67G>A
c.*620G>A (n.*620G>A)
c.159G>A (p.Lys53=)
c.714G>A (p.Lys238=)
 ClinVar dbSNP
11g.1754975T>ACA379095322CTSDc.758A>T (p.Lys253Met)
c.653A>T (p.Lys218Met)
c.183A>T
n.374A>T
c.737A>T (p.Lys246Met)
c.752A>T (p.Lys251Met)
n.356A>T
n.3186A>T
n.66A>T
c.*619A>T (n.*619A>T)
c.158A>T (p.Lys53Met)
c.713A>T (p.Lys238Met)
11g.1754975T>CCA314358CTSDc.758A>G (p.Lys253Arg)
c.653A>G (p.Lys218Arg)
c.183A>G
n.374A>G
c.737A>G (p.Lys246Arg)
c.752A>G (p.Lys251Arg)
n.356A>G
n.3186A>G
n.66A>G
c.*619A>G (n.*619A>G)
c.158A>G (p.Lys53Arg)
c.713A>G (p.Lys238Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1754975T>GCA379095324CTSDc.758A>C (p.Lys253Thr)
c.653A>C (p.Lys218Thr)
c.183A>C
n.374A>C
c.737A>C (p.Lys246Thr)
c.752A>C (p.Lys251Thr)
n.356A>C
n.3186A>C
n.66A>C
c.*619A>C (n.*619A>C)
c.158A>C (p.Lys53Thr)
c.713A>C (p.Lys238Thr)
11g.1754975T=CA1947826314CTSDc.758A= (p.Lys253=)
c.653A= (p.Lys218=)
c.183A=
n.374A=
c.737A= (p.Lys246=)
c.752A= (p.Lys251=)
n.356A=
n.3186A=
n.66A=
c.*619A= (n.*619A=)
c.158A= (p.Lys53=)
c.713A= (p.Lys238=)
11g.1754976T>ACA379095327CTSDc.757A>T (p.Lys253Ter)
c.652A>T (p.Lys218Ter)
c.182A>T
n.373A>T
c.736A>T (p.Lys246Ter)
c.751A>T (p.Lys251Ter)
n.355A>T
n.3185A>T
n.65A>T
c.*618A>T (n.*618A>T)
c.157A>T (p.Lys53Ter)
c.712A>T (p.Lys238Ter)
11g.1754976T>CCA379095330CTSDc.757A>G (p.Lys253Glu)
c.652A>G (p.Lys218Glu)
c.182A>G
n.373A>G
c.736A>G (p.Lys246Glu)
c.751A>G (p.Lys251Glu)
n.355A>G
n.3185A>G
n.65A>G
c.*618A>G (n.*618A>G)
c.157A>G (p.Lys53Glu)
c.712A>G (p.Lys238Glu)
 gnomAD v4
11g.1754976T>GCA379095328CTSDc.757A>C (p.Lys253Gln)
c.652A>C (p.Lys218Gln)
c.182A>C
n.373A>C
c.736A>C (p.Lys246Gln)
c.751A>C (p.Lys251Gln)
n.355A>C
n.3185A>C
n.65A>C
c.*618A>C (n.*618A>C)
c.157A>C (p.Lys53Gln)
c.712A>C (p.Lys238Gln)
11g.1754976T=CA1947826315CTSDc.757A= (p.Lys253=)
c.652A= (p.Lys218=)
c.182A=
n.373A=
c.736A= (p.Lys246=)
c.751A= (p.Lys251=)
n.355A=
n.3185A=
n.65A=
c.*618A= (n.*618A=)
c.157A= (p.Lys53=)
c.712A= (p.Lys238=)
11g.1754977G>ACA471983565CTSDc.756C>T (p.Ser252=)
c.651C>T (p.Ser217=)
c.181C>T
n.372C>T
c.735C>T (p.Ser245=)
c.750C>T (p.Ser250=)
n.354C>T
n.3184C>T
n.64C>T
c.*617C>T (n.*617C>T)
c.156C>T (p.Ser52=)
c.711C>T (p.Ser237=)
 ClinVar
11g.1754977G>CCA471983567CTSDc.756C>G (p.Ser252=)
c.651C>G (p.Ser217=)
c.181C>G
n.372C>G
c.735C>G (p.Ser245=)
c.750C>G (p.Ser250=)
n.354C>G
n.3184C>G
n.64C>G
c.*617C>G (n.*617C>G)
c.156C>G (p.Ser52=)
c.711C>G (p.Ser237=)
11g.1754977G>TCA471983569CTSDc.756C>A (p.Ser252=)
c.651C>A (p.Ser217=)
c.181C>A
n.372C>A
c.735C>A (p.Ser245=)
c.750C>A (p.Ser250=)
n.354C>A
n.3184C>A
n.64C>A
c.*617C>A (n.*617C>A)
c.156C>A (p.Ser52=)
c.711C>A (p.Ser237=)
 gnomAD v4
11g.1754978dupCA934405344CTSDc.756dup (p.Lys253GlnfsTer?)
c.651dup (p.Lys218GlnfsTer?)
c.181dup
c.756dup (p.Lys253GlnfsTer27)
n.372dup
c.735dup (p.Lys246GlnfsTer?)
c.750dup (p.Lys251GlnfsTer?)
n.354dup
n.3184dup
n.64dup
c.*617dup (n.*617dup)
c.156dup (p.Lys53GlnfsTer?)
c.711dup (p.Lys238GlnfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.1754978G>ACA5814070CTSDc.755C>T (p.Ser252Phe)
c.650C>T (p.Ser217Phe)
c.180C>T
n.371C>T
c.734C>T (p.Ser245Phe)
c.749C>T (p.Ser250Phe)
n.353C>T
n.3183C>T
n.63C>T
c.*616C>T (n.*616C>T)
c.155C>T (p.Ser52Phe)
c.710C>T (p.Ser237Phe)
 dbSNP ExAC gnomAD v2
11g.1754978G>CCA379095333CTSDc.755C>G (p.Ser252Cys)
c.650C>G (p.Ser217Cys)
c.180C>G
n.371C>G
c.734C>G (p.Ser245Cys)
c.749C>G (p.Ser250Cys)
n.353C>G
n.3183C>G
n.63C>G
c.*616C>G (n.*616C>G)
c.155C>G (p.Ser52Cys)
c.710C>G (p.Ser237Cys)
11g.1754978G=CA1947826316CTSDc.755C= (p.Ser252=)
c.650C= (p.Ser217=)
c.180C=
n.371C=
c.734C= (p.Ser245=)
c.749C= (p.Ser250=)
n.353C=
n.3183C=
n.63C=
c.*616C= (n.*616C=)
c.155C= (p.Ser52=)
c.710C= (p.Ser237=)
11g.1754978G>TCA379095334CTSDc.755C>A (p.Ser252Tyr)
c.650C>A (p.Ser217Tyr)
c.180C>A
n.371C>A
c.734C>A (p.Ser245Tyr)
c.749C>A (p.Ser250Tyr)
n.353C>A
n.3183C>A
n.63C>A
c.*616C>A (n.*616C>A)
c.155C>A (p.Ser52Tyr)
c.710C>A (p.Ser237Tyr)
11g.1754979A>CCA379095336CTSDc.754T>G (p.Ser252Ala)
c.649T>G (p.Ser217Ala)
c.179T>G
n.370T>G
c.733T>G (p.Ser245Ala)
c.748T>G (p.Ser250Ala)
n.352T>G
n.3182T>G
n.62T>G
c.*615T>G (n.*615T>G)
c.154T>G (p.Ser52Ala)
c.709T>G (p.Ser237Ala)
11g.1754979A>GCA379095338CTSDc.754T>C (p.Ser252Pro)
c.649T>C (p.Ser217Pro)
c.179T>C
n.370T>C
c.733T>C (p.Ser245Pro)
c.748T>C (p.Ser250Pro)
n.352T>C
n.3182T>C
n.62T>C
c.*615T>C (n.*615T>C)
c.154T>C (p.Ser52Pro)
c.709T>C (p.Ser237Pro)
11g.1754979A>TCA379095340CTSDc.754T>A (p.Ser252Thr)
c.649T>A (p.Ser217Thr)
c.179T>A
n.370T>A
c.733T>A (p.Ser245Thr)
c.748T>A (p.Ser250Thr)
n.352T>A
n.3182T>A
n.62T>A
c.*615T>A (n.*615T>A)
c.154T>A (p.Ser52Thr)
c.709T>A (p.Ser237Thr)
11g.1754980G>ACA471983595CTSDc.753C>T (p.Asp251=)
c.648C>T (p.Asp216=)
c.178C>T
n.369C>T
c.732C>T (p.Asp244=)
c.747C>T (p.Asp249=)
n.351C>T
n.3181C>T
n.61C>T
c.*614C>T (n.*614C>T)
c.153C>T (p.Asp51=)
c.708C>T (p.Asp236=)
 ClinVar dbSNP gnomAD v4
11g.1754980G>CCA379095342CTSDc.753C>G (p.Asp251Glu)
c.648C>G (p.Asp216Glu)
c.178C>G
n.369C>G
c.732C>G (p.Asp244Glu)
c.747C>G (p.Asp249Glu)
n.351C>G
n.3181C>G
n.61C>G
c.*614C>G (n.*614C>G)
c.153C>G (p.Asp51Glu)
c.708C>G (p.Asp236Glu)
 gnomAD v4
11g.1754980G>TCA379095344CTSDc.753C>A (p.Asp251Glu)
c.648C>A (p.Asp216Glu)
c.178C>A
n.369C>A
c.732C>A (p.Asp244Glu)
c.747C>A (p.Asp249Glu)
n.351C>A
n.3181C>A
n.61C>A
c.*614C>A (n.*614C>A)
c.153C>A (p.Asp51Glu)
c.708C>A (p.Asp236Glu)
11g.1754981T>ACA379095349CTSDc.752A>T (p.Asp251Val)
c.647A>T (p.Asp216Val)
c.177A>T
n.368A>T
c.731A>T (p.Asp244Val)
c.746A>T (p.Asp249Val)
n.350A>T
n.3180A>T
n.60A>T
c.*613A>T (n.*613A>T)
c.152A>T (p.Asp51Val)
c.707A>T (p.Asp236Val)
11g.1754981T>CCA379095352CTSDc.752A>G (p.Asp251Gly)
c.647A>G (p.Asp216Gly)
c.177A>G
n.368A>G
c.731A>G (p.Asp244Gly)
c.746A>G (p.Asp249Gly)
n.350A>G
n.3180A>G
n.60A>G
c.*613A>G (n.*613A>G)
c.152A>G (p.Asp51Gly)
c.707A>G (p.Asp236Gly)
11g.1754981T>GCA379095353CTSDc.752A>C (p.Asp251Ala)
c.647A>C (p.Asp216Ala)
c.177A>C
n.368A>C
c.731A>C (p.Asp244Ala)
c.746A>C (p.Asp249Ala)
n.350A>C
n.3180A>C
n.60A>C
c.*613A>C (n.*613A>C)
c.152A>C (p.Asp51Ala)
c.707A>C (p.Asp236Ala)
11g.1754982C>ACA379095355CTSDc.751G>T (p.Asp251Tyr)
c.646G>T (p.Asp216Tyr)
c.176G>T
n.367G>T
c.730G>T (p.Asp244Tyr)
c.745G>T (p.Asp249Tyr)
n.349G>T
n.3179G>T
n.59G>T
c.*612G>T (n.*612G>T)
c.151G>T (p.Asp51Tyr)
c.706G>T (p.Asp236Tyr)
11g.1754982C=CA1947826317CTSDc.751G= (p.Asp251=)
c.646G= (p.Asp216=)
c.176G=
n.367G=
c.730G= (p.Asp244=)
c.745G= (p.Asp249=)
n.349G=
n.3179G=
n.59G=
c.*612G= (n.*612G=)
c.151G= (p.Asp51=)
c.706G= (p.Asp236=)
11g.1754982C>GCA379095357CTSDc.751G>C (p.Asp251His)
c.646G>C (p.Asp216His)
c.176G>C
n.367G>C
c.730G>C (p.Asp244His)
c.745G>C (p.Asp249His)
n.349G>C
n.3179G>C
n.59G>C
c.*612G>C (n.*612G>C)
c.151G>C (p.Asp51His)
c.706G>C (p.Asp236His)
11g.1754982C>TCA314356CTSDc.751G>A (p.Asp251Asn)
c.646G>A (p.Asp216Asn)
c.176G>A
n.367G>A
c.730G>A (p.Asp244Asn)
c.745G>A (p.Asp249Asn)
n.349G>A
n.3179G>A
n.59G>A
c.*612G>A (n.*612G>A)
c.151G>A (p.Asp51Asn)
c.706G>A (p.Asp236Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1754983T>ACA471983610CTSDc.750A>T (p.Thr250=)
c.645A>T (p.Thr215=)
c.175A>T
n.366A>T
c.729A>T (p.Thr243=)
c.744A>T (p.Thr248=)
n.348A>T
n.3178A>T
n.58A>T
c.*611A>T (n.*611A>T)
c.150A>T (p.Thr50=)
c.705A>T (p.Thr235=)
11g.1754983T>CCA471983615CTSDc.750A>G (p.Thr250=)
c.645A>G (p.Thr215=)
c.175A>G
n.366A>G
c.729A>G (p.Thr243=)
c.744A>G (p.Thr248=)
n.348A>G
n.3178A>G
n.58A>G
c.*611A>G (n.*611A>G)
c.150A>G (p.Thr50=)
c.705A>G (p.Thr235=)
11g.1754983T>GCA471983609CTSDc.750A>C (p.Thr250=)
c.645A>C (p.Thr215=)
c.175A>C
n.366A>C
c.729A>C (p.Thr243=)
c.744A>C (p.Thr248=)
n.348A>C
n.3178A>C
n.58A>C
c.*611A>C (n.*611A>C)
c.150A>C (p.Thr50=)
c.705A>C (p.Thr235=)
11g.1754984G>ACA379095359CTSDc.749C>T (p.Thr250Ile)
c.644C>T (p.Thr215Ile)
c.174C>T
n.365C>T
c.728C>T (p.Thr243Ile)
c.743C>T (p.Thr248Ile)
n.347C>T
n.3177C>T
n.57C>T
c.*610C>T (n.*610C>T)
c.149C>T (p.Thr50Ile)
c.704C>T (p.Thr235Ile)
11g.1754984G>CCA379095363CTSDc.749C>G (p.Thr250Arg)
c.644C>G (p.Thr215Arg)
c.174C>G
n.365C>G
c.728C>G (p.Thr243Arg)
c.743C>G (p.Thr248Arg)
n.347C>G
n.3177C>G
n.57C>G
c.*610C>G (n.*610C>G)
c.149C>G (p.Thr50Arg)
c.704C>G (p.Thr235Arg)
 gnomAD v4
11g.1754984G>TCA379095365CTSDc.749C>A (p.Thr250Lys)
c.644C>A (p.Thr215Lys)
c.174C>A
n.365C>A
c.728C>A (p.Thr243Lys)
c.743C>A (p.Thr248Lys)
n.347C>A
n.3177C>A
n.57C>A
c.*610C>A (n.*610C>A)
c.149C>A (p.Thr50Lys)
c.704C>A (p.Thr235Lys)
11g.1754985T>ACA379095366CTSDc.748A>T (p.Thr250Ser)
c.643A>T (p.Thr215Ser)
c.173A>T
n.364A>T
c.727A>T (p.Thr243Ser)
c.742A>T (p.Thr248Ser)
n.346A>T
n.3176A>T
n.56A>T
c.*609A>T (n.*609A>T)
c.148A>T (p.Thr50Ser)
c.703A>T (p.Thr235Ser)
11g.1754985T>CCA379095367CTSDc.748A>G (p.Thr250Ala)
c.643A>G (p.Thr215Ala)
c.173A>G
n.364A>G
c.727A>G (p.Thr243Ala)
c.742A>G (p.Thr248Ala)
n.346A>G
n.3176A>G
n.56A>G
c.*609A>G (n.*609A>G)
c.148A>G (p.Thr50Ala)
c.703A>G (p.Thr235Ala)
11g.1754985T>GCA379095370CTSDc.748A>C (p.Thr250Pro)
c.643A>C (p.Thr215Pro)
c.173A>C
n.364A>C
c.727A>C (p.Thr243Pro)
c.742A>C (p.Thr248Pro)
n.346A>C
n.3176A>C
n.56A>C
c.*609A>C (n.*609A>C)
c.148A>C (p.Thr50Pro)
c.703A>C (p.Thr235Pro)
11g.1754986G>ACA5814071CTSDc.747C>T (p.Gly249=)
c.642C>T (p.Gly214=)
c.172C>T
n.363C>T
c.726C>T (p.Gly242=)
c.741C>T (p.Gly247=)
n.345C>T
n.3175C>T
n.55C>T
c.*608C>T (n.*608C>T)
c.147C>T (p.Gly49=)
c.702C>T (p.Gly234=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.1754986G>CCA471983646CTSDc.747C>G (p.Gly249=)
c.642C>G (p.Gly214=)
c.172C>G
n.363C>G
c.726C>G (p.Gly242=)
c.741C>G (p.Gly247=)
n.345C>G
n.3175C>G
n.55C>G
c.*608C>G (n.*608C>G)
c.147C>G (p.Gly49=)
c.702C>G (p.Gly234=)
11g.1754986G=CA1947826318CTSDc.747C= (p.Gly249=)
c.642C= (p.Gly214=)
c.172C=
n.363C=
c.726C= (p.Gly242=)
c.741C= (p.Gly247=)
n.345C=
n.3175C=
n.55C=
c.*608C= (n.*608C=)
c.147C= (p.Gly49=)
c.702C= (p.Gly234=)
11g.1754986G>TCA471983651CTSDc.747C>A (p.Gly249=)
c.642C>A (p.Gly214=)
c.172C>A
n.363C>A
c.726C>A (p.Gly242=)
c.741C>A (p.Gly247=)
n.345C>A
n.3175C>A
n.55C>A
c.*608C>A (n.*608C>A)
c.147C>A (p.Gly49=)
c.702C>A (p.Gly234=)
11g.1754987C>ACA379095373CTSDc.746G>T (p.Gly249Val)
c.641G>T (p.Gly214Val)
c.171G>T
n.362G>T
c.725G>T (p.Gly242Val)
c.740G>T (p.Gly247Val)
n.344G>T
n.3174G>T
n.54G>T
c.*607G>T (n.*607G>T)
c.146G>T (p.Gly49Val)
c.701G>T (p.Gly234Val)
11g.1754987C>GCA379095374CTSDc.746G>C (p.Gly249Ala)
c.641G>C (p.Gly214Ala)
c.171G>C
n.362G>C
c.725G>C (p.Gly242Ala)
c.740G>C (p.Gly247Ala)
n.344G>C
n.3174G>C
n.54G>C
c.*607G>C (n.*607G>C)
c.146G>C (p.Gly49Ala)
c.701G>C (p.Gly234Ala)
11g.1754987C>TCA379095375CTSDc.746G>A (p.Gly249Asp)
c.641G>A (p.Gly214Asp)
c.171G>A
n.362G>A
c.725G>A (p.Gly242Asp)
c.740G>A (p.Gly247Asp)
n.344G>A
n.3174G>A
n.54G>A
c.*607G>A (n.*607G>A)
c.146G>A (p.Gly49Asp)
c.701G>A (p.Gly234Asp)
11g.1754988C>ACA379095377CTSDc.745G>T (p.Gly249Cys)
c.640G>T (p.Gly214Cys)
c.170G>T
n.361G>T
c.724G>T (p.Gly242Cys)
c.739G>T (p.Gly247Cys)
n.343G>T
n.3173G>T
n.53G>T
c.*606G>T (n.*606G>T)
c.145G>T (p.Gly49Cys)
c.700G>T (p.Gly234Cys)
11g.1754988C>GCA379095379CTSDc.745G>C (p.Gly249Arg)
c.640G>C (p.Gly214Arg)
c.170G>C
n.361G>C
c.724G>C (p.Gly242Arg)
c.739G>C (p.Gly247Arg)
n.343G>C
n.3173G>C
n.53G>C
c.*606G>C (n.*606G>C)
c.145G>C (p.Gly49Arg)
c.700G>C (p.Gly234Arg)
11g.1754988C>TCA379095381CTSDc.745G>A (p.Gly249Ser)
c.640G>A (p.Gly214Ser)
c.170G>A
n.361G>A
c.724G>A (p.Gly242Ser)
c.739G>A (p.Gly247Ser)
n.343G>A
n.3173G>A
n.53G>A
c.*606G>A (n.*606G>A)
c.145G>A (p.Gly49Ser)
c.700G>A (p.Gly234Ser)
 gnomAD v4
11g.1754989A>CCA471983681CTSDc.744T>G (p.Gly248=)
c.639T>G (p.Gly213=)
c.169T>G
n.360T>G
c.723T>G (p.Gly241=)
c.738T>G (p.Gly246=)
n.342T>G
n.3172T>G
n.52T>G
c.*605T>G (n.*605T>G)
c.144T>G (p.Gly48=)
c.699T>G (p.Gly233=)
11g.1754989A>GCA471983686CTSDc.744T>C (p.Gly248=)
c.639T>C (p.Gly213=)
c.169T>C
n.360T>C
c.723T>C (p.Gly241=)
c.738T>C (p.Gly246=)
n.342T>C
n.3172T>C
n.52T>C
c.*605T>C (n.*605T>C)
c.144T>C (p.Gly48=)
c.699T>C (p.Gly233=)
11g.1754989A>TCA471983690CTSDc.744T>A (p.Gly248=)
c.639T>A (p.Gly213=)
c.169T>A
n.360T>A
c.723T>A (p.Gly241=)
c.738T>A (p.Gly246=)
n.342T>A
n.3172T>A
n.52T>A
c.*605T>A (n.*605T>A)
c.144T>A (p.Gly48=)
c.699T>A (p.Gly233=)
11g.1754990C>ACA379095387CTSDc.743G>T (p.Gly248Val)
c.638G>T (p.Gly213Val)
c.168G>T
n.359G>T
c.722G>T (p.Gly241Val)
c.737G>T (p.Gly246Val)
n.341G>T
n.3171G>T
n.51G>T
c.*604G>T (n.*604G>T)
c.143G>T (p.Gly48Val)
c.698G>T (p.Gly233Val)
11g.1754990C>GCA379095385CTSDc.743G>C (p.Gly248Ala)
c.638G>C (p.Gly213Ala)
c.168G>C
n.359G>C
c.722G>C (p.Gly241Ala)
c.737G>C (p.Gly246Ala)
n.341G>C
n.3171G>C
n.51G>C
c.*604G>C (n.*604G>C)
c.143G>C (p.Gly48Ala)
c.698G>C (p.Gly233Ala)
11g.1754990C>TCA379095383CTSDc.743G>A (p.Gly248Asp)
c.638G>A (p.Gly213Asp)
c.168G>A
n.359G>A
c.722G>A (p.Gly241Asp)
c.737G>A (p.Gly246Asp)
n.341G>A
n.3171G>A
n.51G>A
c.*604G>A (n.*604G>A)
c.143G>A (p.Gly48Asp)
c.698G>A (p.Gly233Asp)
 gnomAD v4
11g.1754991C>ACA379095388CTSDc.742G>T (p.Gly248Cys)
c.637G>T (p.Gly213Cys)
c.167G>T
n.358G>T
c.721G>T (p.Gly241Cys)
c.736G>T (p.Gly246Cys)
n.340G>T
n.3170G>T
n.50G>T
c.*603G>T (n.*603G>T)
c.142G>T (p.Gly48Cys)
c.697G>T (p.Gly233Cys)
11g.1754991C>GCA379095389CTSDc.742G>C (p.Gly248Arg)
c.637G>C (p.Gly213Arg)
c.167G>C
n.358G>C
c.721G>C (p.Gly241Arg)
c.736G>C (p.Gly246Arg)
n.340G>C
n.3170G>C
n.50G>C
c.*603G>C (n.*603G>C)
c.142G>C (p.Gly48Arg)
c.697G>C (p.Gly233Arg)
11g.1754991C>TCA379095392CTSDc.742G>A (p.Gly248Ser)
c.637G>A (p.Gly213Ser)
c.167G>A
n.358G>A
c.721G>A (p.Gly241Ser)
c.736G>A (p.Gly246Ser)
n.340G>A
n.3170G>A
n.50G>A
c.*603G>A (n.*603G>A)
c.142G>A (p.Gly48Ser)
c.697G>A (p.Gly233Ser)
11g.1754992C>ACA471983703CTSDc.741G>T (p.Leu247=)
c.636G>T (p.Leu212=)
c.166G>T
n.357G>T
c.720G>T (p.Leu240=)
c.735G>T (p.Leu245=)
n.339G>T
n.3169G>T
n.49G>T
c.*602G>T (n.*602G>T)
c.141G>T (p.Leu47=)
c.696G>T (p.Leu232=)
11g.1754992C>GCA471983704CTSDc.741G>C (p.Leu247=)
c.636G>C (p.Leu212=)
c.166G>C
n.357G>C
c.720G>C (p.Leu240=)
c.735G>C (p.Leu245=)
n.339G>C
n.3169G>C
n.49G>C
c.*602G>C (n.*602G>C)
c.141G>C (p.Leu47=)
c.696G>C (p.Leu232=)
 ClinVar
11g.1754992C>TCA471983706CTSDc.741G>A (p.Leu247=)
c.636G>A (p.Leu212=)
c.166G>A
n.357G>A
c.720G>A (p.Leu240=)
c.735G>A (p.Leu245=)
n.339G>A
n.3169G>A
n.49G>A
c.*602G>A (n.*602G>A)
c.141G>A (p.Leu47=)
c.696G>A (p.Leu232=)
11g.1754993A>CCA379095393CTSDc.740T>G (p.Leu247Arg)
c.635T>G (p.Leu212Arg)
c.165T>G
n.356T>G
c.719T>G (p.Leu240Arg)
c.734T>G (p.Leu245Arg)
n.338T>G
n.3168T>G
n.48T>G
c.*601T>G (n.*601T>G)
c.140T>G (p.Leu47Arg)
c.695T>G (p.Leu232Arg)
11g.1754993A>GCA379095395CTSDc.740T>C (p.Leu247Pro)
c.635T>C (p.Leu212Pro)
c.165T>C
n.356T>C
c.719T>C (p.Leu240Pro)
c.734T>C (p.Leu245Pro)
n.338T>C
n.3168T>C
n.48T>C
c.*601T>C (n.*601T>C)
c.140T>C (p.Leu47Pro)
c.695T>C (p.Leu232Pro)
11g.1754993A>TCA379095398CTSDc.740T>A (p.Leu247Gln)
c.635T>A (p.Leu212Gln)
c.165T>A
n.356T>A
c.719T>A (p.Leu240Gln)
c.734T>A (p.Leu245Gln)
n.338T>A
n.3168T>A
n.48T>A
c.*601T>A (n.*601T>A)
c.140T>A (p.Leu47Gln)
c.695T>A (p.Leu232Gln)
11g.1754994G>ACA471983729CTSDc.739C>T (p.Leu247=)
c.634C>T (p.Leu212=)
c.164C>T
n.355C>T
c.718C>T (p.Leu240=)
c.733C>T (p.Leu245=)
n.337C>T
n.3167C>T
n.47C>T
c.*600C>T (n.*600C>T)
c.139C>T (p.Leu47=)
c.694C>T (p.Leu232=)
11g.1754994G>CCA379095399CTSDc.739C>G (p.Leu247Val)
c.634C>G (p.Leu212Val)
c.164C>G
n.355C>G
c.718C>G (p.Leu240Val)
c.733C>G (p.Leu245Val)
n.337C>G
n.3167C>G
n.47C>G
c.*600C>G (n.*600C>G)
c.139C>G (p.Leu47Val)
c.694C>G (p.Leu232Val)
11g.1754994G>TCA379095402CTSDc.739C>A (p.Leu247Met)
c.634C>A (p.Leu212Met)
c.164C>A
n.355C>A
c.718C>A (p.Leu240Met)
c.733C>A (p.Leu245Met)
n.337C>A
n.3167C>A
n.47C>A
c.*600C>A (n.*600C>A)
c.139C>A (p.Leu47Met)
c.694C>A (p.Leu232Met)
11g.1754995C>ACA379095404CTSDc.738G>T (p.Met246Ile)
c.633G>T (p.Met211Ile)
c.163G>T
n.354G>T
c.717G>T (p.Met239Ile)
c.732G>T (p.Met244Ile)
n.336G>T
n.3166G>T
n.46G>T
c.*599G>T (n.*599G>T)
c.138G>T (p.Met46Ile)
c.693G>T (p.Met231Ile)
11g.1754995C>GCA379095406CTSDc.738G>C (p.Met246Ile)
c.633G>C (p.Met211Ile)
c.163G>C
n.354G>C
c.717G>C (p.Met239Ile)
c.732G>C (p.Met244Ile)
n.336G>C
n.3166G>C
n.46G>C
c.*599G>C (n.*599G>C)
c.138G>C (p.Met46Ile)
c.693G>C (p.Met231Ile)
11g.1754995C>TCA379095408CTSDc.738G>A (p.Met246Ile)
c.633G>A (p.Met211Ile)
c.163G>A
n.354G>A
c.717G>A (p.Met239Ile)
c.732G>A (p.Met244Ile)
n.336G>A
n.3166G>A
n.46G>A
c.*599G>A (n.*599G>A)
c.138G>A (p.Met46Ile)
c.693G>A (p.Met231Ile)
11g.1754996A>CCA379095409CTSDc.737T>G (p.Met246Arg)
c.632T>G (p.Met211Arg)
c.162T>G
n.353T>G
c.716T>G (p.Met239Arg)
c.731T>G (p.Met244Arg)
n.335T>G
n.3165T>G
n.45T>G
c.*598T>G (n.*598T>G)
c.137T>G (p.Met46Arg)
c.692T>G (p.Met231Arg)
11g.1754996A>GCA379095411CTSDc.737T>C (p.Met246Thr)
c.632T>C (p.Met211Thr)
c.162T>C
n.353T>C
c.716T>C (p.Met239Thr)
c.731T>C (p.Met244Thr)
n.335T>C
n.3165T>C
n.45T>C
c.*598T>C (n.*598T>C)
c.137T>C (p.Met46Thr)
c.692T>C (p.Met231Thr)
11g.1754996A>TCA379095413CTSDc.737T>A (p.Met246Lys)
c.632T>A (p.Met211Lys)
c.162T>A
n.353T>A
c.716T>A (p.Met239Lys)
c.731T>A (p.Met244Lys)
n.335T>A
n.3165T>A
n.45T>A
c.*598T>A (n.*598T>A)
c.137T>A (p.Met46Lys)
c.692T>A (p.Met231Lys)
11g.1754997T>ACA379095416CTSDc.736A>T (p.Met246Leu)
c.631A>T (p.Met211Leu)
c.161A>T
n.352A>T
c.715A>T (p.Met239Leu)
c.730A>T (p.Met244Leu)
n.334A>T
n.3164A>T
n.44A>T
c.*597A>T (n.*597A>T)
c.136A>T (p.Met46Leu)
c.691A>T (p.Met231Leu)
11g.1754997T>CCA379095417CTSDc.736A>G (p.Met246Val)
c.631A>G (p.Met211Val)
c.161A>G
n.352A>G
c.715A>G (p.Met239Val)
c.730A>G (p.Met244Val)
n.334A>G
n.3164A>G
n.44A>G
c.*597A>G (n.*597A>G)
c.136A>G (p.Met46Val)
c.691A>G (p.Met231Val)
11g.1754997T>GCA379095414CTSDc.736A>C (p.Met246Leu)
c.631A>C (p.Met211Leu)
c.161A>C
n.352A>C
c.715A>C (p.Met239Leu)
c.730A>C (p.Met244Leu)
n.334A>C
n.3164A>C
n.44A>C
c.*597A>C (n.*597A>C)
c.136A>C (p.Met46Leu)
c.691A>C (p.Met231Leu)
11g.1754998C>ACA471983785CTSDc.735G>T (p.Leu245=)
c.630G>T (p.Leu210=)
c.160G>T
n.351G>T
c.714G>T (p.Leu238=)
c.729G>T (p.Leu243=)
n.333G>T
n.3163G>T
n.43G>T
c.*596G>T (n.*596G>T)
c.135G>T (p.Leu45=)
c.690G>T (p.Leu230=)
11g.1754998C=CA1947826319CTSDc.735G= (p.Leu245=)
c.630G= (p.Leu210=)
c.160G=
n.351G=
c.714G= (p.Leu238=)
c.729G= (p.Leu243=)
n.333G=
n.3163G=
n.43G=
c.*596G= (n.*596G=)
c.135G= (p.Leu45=)
c.690G= (p.Leu230=)
11g.1754998C>GCA471983782CTSDc.735G>C (p.Leu245=)
c.630G>C (p.Leu210=)
c.160G>C
n.351G>C
c.714G>C (p.Leu238=)
c.729G>C (p.Leu243=)
n.333G>C
n.3163G>C
n.43G>C
c.*596G>C (n.*596G>C)
c.135G>C (p.Leu45=)
c.690G>C (p.Leu230=)
 dbSNP
11g.1754998C>TCA471983783CTSDc.735G>A (p.Leu245=)
c.630G>A (p.Leu210=)
c.160G>A
n.351G>A
c.714G>A (p.Leu238=)
c.729G>A (p.Leu243=)
n.333G>A
n.3163G>A
n.43G>A
c.*596G>A (n.*596G>A)
c.135G>A (p.Leu45=)
c.690G>A (p.Leu230=)
 gnomAD v4
11g.1754999A>CCA379095419CTSDc.734T>G (p.Leu245Arg)
c.629T>G (p.Leu210Arg)
c.159T>G
n.350T>G
c.713T>G (p.Leu238Arg)
c.728T>G (p.Leu243Arg)
n.332T>G
n.3162T>G
n.42T>G
c.*595T>G (n.*595T>G)
c.134T>G (p.Leu45Arg)
c.689T>G (p.Leu230Arg)
11g.1754999A>GCA379095421CTSDc.734T>C (p.Leu245Pro)
c.629T>C (p.Leu210Pro)
c.159T>C
n.350T>C
c.713T>C (p.Leu238Pro)
c.728T>C (p.Leu243Pro)
n.332T>C
n.3162T>C
n.42T>C
c.*595T>C (n.*595T>C)
c.134T>C (p.Leu45Pro)
c.689T>C (p.Leu230Pro)
11g.1754999A>TCA379095423CTSDc.734T>A (p.Leu245Gln)
c.629T>A (p.Leu210Gln)
c.159T>A
n.350T>A
c.713T>A (p.Leu238Gln)
c.728T>A (p.Leu243Gln)
n.332T>A
n.3162T>A
n.42T>A
c.*595T>A (n.*595T>A)
c.134T>A (p.Leu45Gln)
c.689T>A (p.Leu230Gln)
11g.1755000G>ACA471983793CTSDc.733C>T (p.Leu245=)
c.628C>T (p.Leu210=)
c.158C>T
n.349C>T
c.712C>T (p.Leu238=)
c.727C>T (p.Leu243=)
n.331C>T
n.3161C>T
n.41C>T
c.*594C>T (n.*594C>T)
c.133C>T (p.Leu45=)
c.688C>T (p.Leu230=)
 ClinVar
11g.1755000G>CCA379095424CTSDc.733C>G (p.Leu245Val)
c.628C>G (p.Leu210Val)
c.158C>G
n.349C>G
c.712C>G (p.Leu238Val)
c.727C>G (p.Leu243Val)
n.331C>G
n.3161C>G
n.41C>G
c.*594C>G (n.*594C>G)
c.133C>G (p.Leu45Val)
c.688C>G (p.Leu230Val)
11g.1755000G>TCA379095426CTSDc.733C>A (p.Leu245Met)
c.628C>A (p.Leu210Met)
c.158C>A
n.349C>A
c.712C>A (p.Leu238Met)
c.727C>A (p.Leu243Met)
n.331C>A
n.3161C>A
n.41C>A
c.*594C>A (n.*594C>A)
c.133C>A (p.Leu45Met)
c.688C>A (p.Leu230Met)
11g.1755001C>ACA379095428CTSDc.732G>T (p.Glu244Asp)
c.627G>T (p.Glu209Asp)
c.157G>T
n.348G>T
c.711G>T (p.Glu237Asp)
c.726G>T (p.Glu242Asp)
n.330G>T
n.3160G>T
n.40G>T
c.*593G>T (n.*593G>T)
c.132G>T (p.Glu44Asp)
c.687G>T (p.Glu229Asp)
11g.1755001C>GCA379095430CTSDc.732G>C (p.Glu244Asp)
c.627G>C (p.Glu209Asp)
c.157G>C
n.348G>C
c.711G>C (p.Glu237Asp)
c.726G>C (p.Glu242Asp)
n.330G>C
n.3160G>C
n.40G>C
c.*593G>C (n.*593G>C)
c.132G>C (p.Glu44Asp)
c.687G>C (p.Glu229Asp)
11g.1755001C>TCA471983806CTSDc.732G>A (p.Glu244=)
c.627G>A (p.Glu209=)
c.157G>A
n.348G>A
c.711G>A (p.Glu237=)
c.726G>A (p.Glu242=)
n.330G>A
n.3160G>A
n.40G>A
c.*593G>A (n.*593G>A)
c.132G>A (p.Glu44=)
c.687G>A (p.Glu229=)
11g.1755002T>ACA379095432CTSDc.731A>T (p.Glu244Val)
c.626A>T (p.Glu209Val)
c.156A>T
n.347A>T
c.710A>T (p.Glu237Val)
c.725A>T (p.Glu242Val)
n.329A>T
n.3159A>T
n.39A>T
c.*592A>T (n.*592A>T)
c.131A>T (p.Glu44Val)
c.686A>T (p.Glu229Val)
11g.1755002T>CCA379095434CTSDc.731A>G (p.Glu244Gly)
c.626A>G (p.Glu209Gly)
c.156A>G
n.347A>G
c.710A>G (p.Glu237Gly)
c.725A>G (p.Glu242Gly)
n.329A>G
n.3159A>G
n.39A>G
c.*592A>G (n.*592A>G)
c.131A>G (p.Glu44Gly)
c.686A>G (p.Glu229Gly)
11g.1755002T>GCA379095433CTSDc.731A>C (p.Glu244Ala)
c.626A>C (p.Glu209Ala)
c.156A>C
n.347A>C
c.710A>C (p.Glu237Ala)
c.725A>C (p.Glu242Ala)
n.329A>C
n.3159A>C
n.39A>C
c.*592A>C (n.*592A>C)
c.131A>C (p.Glu44Ala)
c.686A>C (p.Glu229Ala)
11g.1755003C>ACA379095437CTSDc.730G>T (p.Glu244Ter)
c.625G>T (p.Glu209Ter)
c.155G>T
n.346G>T
c.709G>T (p.Glu237Ter)
c.724G>T (p.Glu242Ter)
n.328G>T
n.3158G>T
n.38G>T
c.*591G>T (n.*591G>T)
c.130G>T (p.Glu44Ter)
c.685G>T (p.Glu229Ter)
11g.1755003C>GCA379095439CTSDc.730G>C (p.Glu244Gln)
c.625G>C (p.Glu209Gln)
c.155G>C
n.346G>C
c.709G>C (p.Glu237Gln)
c.724G>C (p.Glu242Gln)
n.328G>C
n.3158G>C
n.38G>C
c.*591G>C (n.*591G>C)
c.130G>C (p.Glu44Gln)
c.685G>C (p.Glu229Gln)
11g.1755003C>TCA379095441CTSDc.730G>A (p.Glu244Lys)
c.625G>A (p.Glu209Lys)
c.155G>A
n.346G>A
c.709G>A (p.Glu237Lys)
c.724G>A (p.Glu242Lys)
n.328G>A
n.3158G>A
n.38G>A
c.*591G>A (n.*591G>A)
c.130G>A (p.Glu44Lys)
c.685G>A (p.Glu229Lys)
 gnomAD v4
11g.1755004A=CA1947826320CTSDc.729T= (p.Gly243=)
c.624T= (p.Gly208=)
c.154T=
n.345T=
c.708T= (p.Gly236=)
c.723T= (p.Gly241=)
n.327T=
n.3157T=
n.37T=
c.*590T= (n.*590T=)
c.129T= (p.Gly43=)
c.684T= (p.Gly228=)
11g.1755004A>CCA471983823CTSDc.729T>G (p.Gly243=)
c.624T>G (p.Gly208=)
c.154T>G
n.345T>G
c.708T>G (p.Gly236=)
c.723T>G (p.Gly241=)
n.327T>G
n.3157T>G
n.37T>G
c.*590T>G (n.*590T>G)
c.129T>G (p.Gly43=)
c.684T>G (p.Gly228=)
 dbSNP
11g.1755004A>GCA5814072CTSDc.729T>C (p.Gly243=)
c.624T>C (p.Gly208=)
c.154T>C
n.345T>C
c.708T>C (p.Gly236=)
c.723T>C (p.Gly241=)
n.327T>C
n.3157T>C
n.37T>C
c.*590T>C (n.*590T>C)
c.129T>C (p.Gly43=)
c.684T>C (p.Gly228=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.1755004A>TCA471983826CTSDc.729T>A (p.Gly243=)
c.624T>A (p.Gly208=)
c.154T>A
n.345T>A
c.708T>A (p.Gly236=)
c.723T>A (p.Gly241=)
n.327T>A
n.3157T>A
n.37T>A
c.*590T>A (n.*590T>A)
c.129T>A (p.Gly43=)
c.684T>A (p.Gly228=)
11g.1755005C>ACA379095444CTSDc.728G>T (p.Gly243Val)
c.623G>T (p.Gly208Val)
c.153G>T
n.344G>T
c.707G>T (p.Gly236Val)
c.722G>T (p.Gly241Val)
n.326G>T
n.3156G>T
n.36G>T
c.*589G>T (n.*589G>T)
c.128G>T (p.Gly43Val)
c.683G>T (p.Gly228Val)
11g.1755005C=CA1947826321CTSDc.728G= (p.Gly243=)
c.623G= (p.Gly208=)
c.153G=
n.344G=
c.707G= (p.Gly236=)
c.722G= (p.Gly241=)
n.326G=
n.3156G=
n.36G=
c.*589G= (n.*589G=)
c.128G= (p.Gly43=)
c.683G= (p.Gly228=)
11g.1755005C>GCA379095448CTSDc.728G>C (p.Gly243Ala)
c.623G>C (p.Gly208Ala)
c.153G>C
n.344G>C
c.707G>C (p.Gly236Ala)
c.722G>C (p.Gly241Ala)
n.326G>C
n.3156G>C
n.36G>C
c.*589G>C (n.*589G>C)
c.128G>C (p.Gly43Ala)
c.683G>C (p.Gly228Ala)
11g.1755005C>TCA379095446CTSDc.728G>A (p.Gly243Asp)
c.623G>A (p.Gly208Asp)
c.153G>A
n.344G>A
c.707G>A (p.Gly236Asp)
c.722G>A (p.Gly241Asp)
n.326G>A
n.3156G>A
n.36G>A
c.*589G>A (n.*589G>A)
c.128G>A (p.Gly43Asp)
c.683G>A (p.Gly228Asp)
 dbSNP gnomAD v4
11g.1755009delCA645569348CTSDc.728del (p.Gly243ValfsTer3)
c.623del (p.Gly208ValfsTer3)
c.153del
n.344del
c.707del (p.Gly236ValfsTer3)
c.722del (p.Gly241ValfsTer3)
n.326del
n.3156del
n.36del
c.*589del (n.*589del)
c.128del (p.Gly43ValfsTer3)
c.683del (p.Gly228ValfsTer3)
 ClinVar COSMIC
11g.1755006C>ACA379095450CTSDc.727G>T (p.Gly243Cys)
c.622G>T (p.Gly208Cys)
c.152G>T
n.343G>T
c.706G>T (p.Gly236Cys)
c.721G>T (p.Gly241Cys)
n.325G>T
n.3155G>T
n.35G>T
c.*588G>T (n.*588G>T)
c.127G>T (p.Gly43Cys)
c.682G>T (p.Gly228Cys)
 gnomAD v4
11g.1755006C>GCA379095451CTSDc.727G>C (p.Gly243Arg)
c.622G>C (p.Gly208Arg)
c.152G>C
n.343G>C
c.706G>C (p.Gly236Arg)
c.721G>C (p.Gly241Arg)
n.325G>C
n.3155G>C
n.35G>C
c.*588G>C (n.*588G>C)
c.127G>C (p.Gly43Arg)
c.682G>C (p.Gly228Arg)
11g.1755006C>TCA379095452CTSDc.727G>A (p.Gly243Ser)
c.622G>A (p.Gly208Ser)
c.152G>A
n.343G>A
c.706G>A (p.Gly236Ser)
c.721G>A (p.Gly241Ser)
n.325G>A
n.3155G>A
n.35G>A
c.*588G>A (n.*588G>A)
c.127G>A (p.Gly43Ser)
c.682G>A (p.Gly228Ser)
11g.1755007C>ACA471983840CTSDc.726G>T (p.Gly242=)
c.621G>T (p.Gly207=)
c.151G>T
n.342G>T
c.705G>T (p.Gly235=)
c.720G>T (p.Gly240=)
n.324G>T
n.3154G>T
n.34G>T
c.*587G>T (n.*587G>T)
c.126G>T (p.Gly42=)
c.681G>T (p.Gly227=)
11g.1755007C=CA1947826322CTSDc.726G= (p.Gly242=)
c.621G= (p.Gly207=)
c.151G=
n.342G=
c.705G= (p.Gly235=)
c.720G= (p.Gly240=)
n.324G=
n.3154G=
n.34G=
c.*587G= (n.*587G=)
c.126G= (p.Gly42=)
c.681G= (p.Gly227=)
11g.1755007C>GCA471983841CTSDc.726G>C (p.Gly242=)
c.621G>C (p.Gly207=)
c.151G>C
n.342G>C
c.705G>C (p.Gly235=)
c.720G>C (p.Gly240=)
n.324G>C
n.3154G>C
n.34G>C
c.*587G>C (n.*587G>C)
c.126G>C (p.Gly42=)
c.681G>C (p.Gly227=)
11g.1755007C>TCA5814073CTSDc.726G>A (p.Gly242=)
c.621G>A (p.Gly207=)
c.151G>A
n.342G>A
c.705G>A (p.Gly235=)
c.720G>A (p.Gly240=)
n.324G>A
n.3154G>A
n.34G>A
c.*587G>A (n.*587G>A)
c.126G>A (p.Gly42=)
c.681G>A (p.Gly227=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.1755008C>ACA379095454CTSDc.725G>T (p.Gly242Val)
c.620G>T (p.Gly207Val)
c.150G>T
n.341G>T
c.704G>T (p.Gly235Val)
c.719G>T (p.Gly240Val)
n.323G>T
n.3153G>T
n.33G>T
c.*586G>T (n.*586G>T)
c.125G>T (p.Gly42Val)
c.680G>T (p.Gly227Val)
 ClinVar COSMIC
11g.1755008C=CA1947826323CTSDc.725G= (p.Gly242=)
c.620G= (p.Gly207=)
c.150G=
n.341G=
c.704G= (p.Gly235=)
c.719G= (p.Gly240=)
n.323G=
n.3153G=
n.33G=
c.*586G= (n.*586G=)
c.125G= (p.Gly42=)
c.680G= (p.Gly227=)
11g.1755008C>GCA379095456CTSDc.725G>C (p.Gly242Ala)
c.620G>C (p.Gly207Ala)
c.150G>C
n.341G>C
c.704G>C (p.Gly235Ala)
c.719G>C (p.Gly240Ala)
n.323G>C
n.3153G>C
n.33G>C
c.*586G>C (n.*586G>C)
c.125G>C (p.Gly42Ala)
c.680G>C (p.Gly227Ala)
 gnomAD v4
11g.1755008C>TCA379095457CTSDc.725G>A (p.Gly242Glu)
c.620G>A (p.Gly207Glu)
c.150G>A
n.341G>A
c.704G>A (p.Gly235Glu)
c.719G>A (p.Gly240Glu)
n.323G>A
n.3153G>A
n.33G>A
c.*586G>A (n.*586G>A)
c.125G>A (p.Gly42Glu)
c.680G>A (p.Gly227Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.1755009C>ACA379095459CTSDc.724G>T (p.Gly242Trp)
c.619G>T (p.Gly207Trp)
c.149G>T
n.340G>T
c.703G>T (p.Gly235Trp)
c.718G>T (p.Gly240Trp)
n.322G>T
n.3152G>T
n.32G>T
c.*585G>T (n.*585G>T)
c.124G>T (p.Gly42Trp)
c.679G>T (p.Gly227Trp)
11g.1755009C=CA1947826324CTSDc.724G= (p.Gly242=)
c.619G= (p.Gly207=)
c.149G=
n.340G=
c.703G= (p.Gly235=)
c.718G= (p.Gly240=)
n.322G=
n.3152G=
n.32G=
c.*585G= (n.*585G=)
c.124G= (p.Gly42=)
c.679G= (p.Gly227=)
11g.1755009C>GCA379095461CTSDc.724G>C (p.Gly242Arg)
c.619G>C (p.Gly207Arg)
c.149G>C
n.340G>C
c.703G>C (p.Gly235Arg)
c.718G>C (p.Gly240Arg)
n.322G>C
n.3152G>C
n.32G>C
c.*585G>C (n.*585G>C)
c.124G>C (p.Gly42Arg)
c.679G>C (p.Gly227Arg)
 gnomAD v4
11g.1755009C>TCA379095463CTSDc.724G>A (p.Gly242Arg)
c.619G>A (p.Gly207Arg)
c.149G>A
n.340G>A
c.703G>A (p.Gly235Arg)
c.718G>A (p.Gly240Arg)
n.322G>A
n.3152G>A
n.32G>A
c.*585G>A (n.*585G>A)
c.124G>A (p.Gly42Arg)
c.679G>A (p.Gly227Arg)
 dbSNP gnomAD v2
11g.1755010A>CCA471983864CTSDc.723T>G (p.Pro241=)
c.618T>G (p.Pro206=)
c.148T>G
n.339T>G
c.702T>G (p.Pro234=)
c.717T>G (p.Pro239=)
n.321T>G
n.3151T>G
n.31T>G
c.*584T>G (n.*584T>G)
c.123T>G (p.Pro41=)
c.678T>G (p.Pro226=)
11g.1755010A>GCA471983859CTSDc.723T>C (p.Pro241=)
c.618T>C (p.Pro206=)
c.148T>C
n.339T>C
c.702T>C (p.Pro234=)
c.717T>C (p.Pro239=)
n.321T>C
n.3151T>C
n.31T>C
c.*584T>C (n.*584T>C)
c.123T>C (p.Pro41=)
c.678T>C (p.Pro226=)
11g.1755010A>TCA471983861CTSDc.723T>A (p.Pro241=)
c.618T>A (p.Pro206=)
c.148T>A
n.339T>A
c.702T>A (p.Pro234=)
c.717T>A (p.Pro239=)
n.321T>A
n.3151T>A
n.31T>A
c.*584T>A (n.*584T>A)
c.123T>A (p.Pro41=)
c.678T>A (p.Pro226=)
 gnomAD v4
11g.1755011G>ACA379095469CTSDc.722C>T (p.Pro241Leu)
c.617C>T (p.Pro206Leu)
c.147C>T
n.338C>T
c.701C>T (p.Pro234Leu)
c.716C>T (p.Pro239Leu)
n.320C>T
n.3150C>T
n.30C>T
c.*583C>T (n.*583C>T)
c.122C>T (p.Pro41Leu)
c.677C>T (p.Pro226Leu)
11g.1755011G>CCA379095467CTSDc.722C>G (p.Pro241Arg)
c.617C>G (p.Pro206Arg)
c.147C>G
n.338C>G
c.701C>G (p.Pro234Arg)
c.716C>G (p.Pro239Arg)
n.320C>G
n.3150C>G
n.30C>G
c.*583C>G (n.*583C>G)
c.122C>G (p.Pro41Arg)
c.677C>G (p.Pro226Arg)
 gnomAD v4
11g.1755011G>TCA379095465CTSDc.722C>A (p.Pro241His)
c.617C>A (p.Pro206His)
c.147C>A
n.338C>A
c.701C>A (p.Pro234His)
c.716C>A (p.Pro239His)
n.320C>A
n.3150C>A
n.30C>A
c.*583C>A (n.*583C>A)
c.122C>A (p.Pro41His)
c.677C>A (p.Pro226His)
11g.1755012G>ACA379095471CTSDc.721C>T (p.Pro241Ser)
c.616C>T (p.Pro206Ser)
c.146C>T
n.337C>T
c.700C>T (p.Pro234Ser)
c.715C>T (p.Pro239Ser)
n.319C>T
n.3149C>T
n.29C>T
c.*582C>T (n.*582C>T)
c.121C>T (p.Pro41Ser)
c.676C>T (p.Pro226Ser)
 gnomAD v4
11g.1755012G>CCA379095475CTSDc.721C>G (p.Pro241Ala)
c.616C>G (p.Pro206Ala)
c.146C>G
n.337C>G
c.700C>G (p.Pro234Ala)
c.715C>G (p.Pro239Ala)
n.319C>G
n.3149C>G
n.29C>G
c.*582C>G (n.*582C>G)
c.121C>G (p.Pro41Ala)
c.676C>G (p.Pro226Ala)
11g.1755012G>TCA379095473CTSDc.721C>A (p.Pro241Thr)
c.616C>A (p.Pro206Thr)
c.146C>A
n.337C>A
c.700C>A (p.Pro234Thr)
c.715C>A (p.Pro239Thr)
n.319C>A
n.3149C>A
n.29C>A
c.*582C>A (n.*582C>A)
c.121C>A (p.Pro41Thr)
c.676C>A (p.Pro226Thr)
11g.1755013C>ACA379095477CTSDc.720G>T (p.Gln240His)
c.615G>T (p.Gln205His)
c.145G>T
n.336G>T
c.699G>T (p.Gln233His)
c.714G>T (p.Gln238His)
n.318G>T
n.3148G>T
n.28G>T
c.*581G>T (n.*581G>T)
c.120G>T (p.Gln40His)
c.675G>T (p.Gln225His)
 dbSNP
11g.1755013C=CA1947826325CTSDc.720G= (p.Gln240=)
c.615G= (p.Gln205=)
c.145G=
n.336G=
c.699G= (p.Gln233=)
c.714G= (p.Gln238=)
n.318G=
n.3148G=
n.28G=
c.*581G= (n.*581G=)
c.120G= (p.Gln40=)
c.675G= (p.Gln225=)
11g.1755013C>GCA379095478CTSDc.720G>C (p.Gln240His)
c.615G>C (p.Gln205His)
c.145G>C
n.336G>C
c.699G>C (p.Gln233His)
c.714G>C (p.Gln238His)
n.318G>C
n.3148G>C
n.28G>C
c.*581G>C (n.*581G>C)
c.120G>C (p.Gln40His)
c.675G>C (p.Gln225His)
 gnomAD v4
11g.1755013C>TCA471983890CTSDc.720G>A (p.Gln240=)
c.615G>A (p.Gln205=)
c.145G>A
n.336G>A
c.699G>A (p.Gln233=)
c.714G>A (p.Gln238=)
n.318G>A
n.3148G>A
n.28G>A
c.*581G>A (n.*581G>A)
c.120G>A (p.Gln40=)
c.675G>A (p.Gln225=)
11g.1755014T>ACA379095483CTSDc.719A>T (p.Gln240Leu)
c.614A>T (p.Gln205Leu)
c.144A>T
n.335A>T
c.698A>T (p.Gln233Leu)
c.713A>T (p.Gln238Leu)
n.317A>T
n.3147A>T
n.27A>T
c.*580A>T (n.*580A>T)
c.119A>T (p.Gln40Leu)
c.674A>T (p.Gln225Leu)
11g.1755014T>CCA379095486CTSDc.719A>G (p.Gln240Arg)
c.614A>G (p.Gln205Arg)
c.144A>G
n.335A>G
c.698A>G (p.Gln233Arg)
c.713A>G (p.Gln238Arg)
n.317A>G
n.3147A>G
n.27A>G
c.*580A>G (n.*580A>G)
c.119A>G (p.Gln40Arg)
c.674A>G (p.Gln225Arg)
11g.1755014T>GCA379095489CTSDc.719A>C (p.Gln240Pro)
c.614A>C (p.Gln205Pro)
c.144A>C
n.335A>C
c.698A>C (p.Gln233Pro)
c.713A>C (p.Gln238Pro)
n.317A>C
n.3147A>C
n.27A>C
c.*580A>C (n.*580A>C)
c.119A>C (p.Gln40Pro)
c.674A>C (p.Gln225Pro)
11g.1755015G>ACA379095491CTSDc.718C>T (p.Gln240Ter)
c.613C>T (p.Gln205Ter)
c.143C>T
n.334C>T
c.697C>T (p.Gln233Ter)
c.712C>T (p.Gln238Ter)
n.316C>T
n.3146C>T
n.26C>T
c.*579C>T (n.*579C>T)
c.118C>T (p.Gln40Ter)
c.673C>T (p.Gln225Ter)
 ClinVar
11g.1755015G>CCA379095494CTSDc.718C>G (p.Gln240Glu)
c.613C>G (p.Gln205Glu)
c.143C>G
n.334C>G
c.697C>G (p.Gln233Glu)
c.712C>G (p.Gln238Glu)
n.316C>G
n.3146C>G
n.26C>G
c.*579C>G (n.*579C>G)
c.118C>G (p.Gln40Glu)
c.673C>G (p.Gln225Glu)
11g.1755015G>TCA379095497CTSDc.718C>A (p.Gln240Lys)
c.613C>A (p.Gln205Lys)
c.143C>A
n.334C>A
c.697C>A (p.Gln233Lys)
c.712C>A (p.Gln238Lys)
n.316C>A
n.3146C>A
n.26C>A
c.*579C>A (n.*579C>A)
c.118C>A (p.Gln40Lys)
c.673C>A (p.Gln225Lys)
11g.1755016C>ACA471983905CTSDc.717G>T (p.Ala239=)
c.612G>T (p.Ala204=)
c.142G>T
n.333G>T
c.696G>T (p.Ala232=)
c.711G>T (p.Ala237=)
n.315G>T
n.3145G>T
n.25G>T
c.*578G>T (n.*578G>T)
c.117G>T (p.Ala39=)
c.672G>T (p.Ala224=)
 ClinVar COSMIC
11g.1755016C=CA1947826326CTSDc.717G= (p.Ala239=)
c.612G= (p.Ala204=)
c.142G=
n.333G=
c.696G= (p.Ala232=)
c.711G= (p.Ala237=)
n.315G=
n.3145G=
n.25G=
c.*578G= (n.*578G=)
c.117G= (p.Ala39=)
c.672G= (p.Ala224=)
11g.1755016C>GCA5814074CTSDc.717G>C (p.Ala239=)
c.612G>C (p.Ala204=)
c.142G>C
n.333G>C
c.696G>C (p.Ala232=)
c.711G>C (p.Ala237=)
n.315G>C
n.3145G>C
n.25G>C
c.*578G>C (n.*578G>C)
c.117G>C (p.Ala39=)
c.672G>C (p.Ala224=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.1755016C>TCA5814075CTSDc.717G>A (p.Ala239=)
c.612G>A (p.Ala204=)
c.142G>A
n.333G>A
c.696G>A (p.Ala232=)
c.711G>A (p.Ala237=)
n.315G>A
n.3145G>A
n.25G>A
c.*578G>A (n.*578G>A)
c.117G>A (p.Ala39=)
c.672G>A (p.Ala224=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched