Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.42711240T>ACA359695848GHRc.652T>A (p.Tyr218Asn)
c.586T>A (p.Tyr196Asn)
c.*264T>A (n.*264T>A)
c.673T>A (p.Tyr225Asn)
c.607T>A (p.Tyr203Asn)
5g.42711240T>CCA359695849GHRc.652T>C (p.Tyr218His)
c.586T>C (p.Tyr196His)
c.*264T>C (n.*264T>C)
c.673T>C (p.Tyr225His)
c.607T>C (p.Tyr203His)
5g.42711240T>GCA359695850GHRc.652T>G (p.Tyr218Asp)
c.586T>G (p.Tyr196Asp)
c.*264T>G (n.*264T>G)
c.673T>G (p.Tyr225Asp)
c.607T>G (p.Tyr203Asp)
5g.42711241A=CA1542304784GHRc.653A= (p.Tyr218=)
c.587A= (p.Tyr196=)
c.*265A= (n.*265A=)
c.674A= (p.Tyr225=)
c.608A= (p.Tyr203=)
5g.42711241A>CCA359695851GHRc.653A>C (p.Tyr218Ser)
c.587A>C (p.Tyr196Ser)
c.*265A>C (n.*265A>C)
c.674A>C (p.Tyr225Ser)
c.608A>C (p.Tyr203Ser)
5g.42711241A>GCA3254465GHRc.653A>G (p.Tyr218Cys)
c.587A>G (p.Tyr196Cys)
c.*265A>G (n.*265A>G)
c.674A>G (p.Tyr225Cys)
c.608A>G (p.Tyr203Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711241A>TCA359695852GHRc.653A>T (p.Tyr218Phe)
c.587A>T (p.Tyr196Phe)
c.*265A>T (n.*265A>T)
c.674A>T (p.Tyr225Phe)
c.608A>T (p.Tyr203Phe)
5g.42711242C>ACA359695853GHRc.654C>A (p.Tyr218Ter)
c.588C>A (p.Tyr196Ter)
c.*266C>A (n.*266C>A)
c.675C>A (p.Tyr225Ter)
c.609C>A (p.Tyr203Ter)
 gnomAD v4
5g.42711242C>GCA359695854GHRc.654C>G (p.Tyr218Ter)
c.588C>G (p.Tyr196Ter)
c.*266C>G (n.*266C>G)
c.675C>G (p.Tyr225Ter)
c.609C>G (p.Tyr203Ter)
5g.42711242C>TCA443847598GHRc.654C>T (p.Tyr218=)
c.588C>T (p.Tyr196=)
c.*266C>T (n.*266C>T)
c.675C>T (p.Tyr225=)
c.609C>T (p.Tyr203=)
 gnomAD v4
5g.42711243T>ACA359695855GHRc.655T>A (p.Ser219Thr)
c.589T>A (p.Ser197Thr)
c.*267T>A (n.*267T>A)
c.676T>A (p.Ser226Thr)
c.610T>A (p.Ser204Thr)
5g.42711243T>CCA359695857GHRc.655T>C (p.Ser219Pro)
c.589T>C (p.Ser197Pro)
c.*267T>C (n.*267T>C)
c.676T>C (p.Ser226Pro)
c.610T>C (p.Ser204Pro)
 ClinVar
5g.42711243T>GCA359695856GHRc.655T>G (p.Ser219Ala)
c.589T>G (p.Ser197Ala)
c.*267T>G (n.*267T>G)
c.676T>G (p.Ser226Ala)
c.610T>G (p.Ser204Ala)
5g.42711244C>ACA359695858GHRc.656C>A (p.Ser219Ter)
c.590C>A (p.Ser197Ter)
c.*268C>A (n.*268C>A)
c.677C>A (p.Ser226Ter)
c.611C>A (p.Ser204Ter)
5g.42711244C>GCA359695859GHRc.656C>G (p.Ser219Ter)
c.590C>G (p.Ser197Ter)
c.*268C>G (n.*268C>G)
c.677C>G (p.Ser226Ter)
c.611C>G (p.Ser204Ter)
5g.42711244C>TCA359695860GHRc.656C>T (p.Ser219Leu)
c.590C>T (p.Ser197Leu)
c.*268C>T (n.*268C>T)
c.677C>T (p.Ser226Leu)
c.611C>T (p.Ser204Leu)
5g.42711245A>CCA443847618GHRc.657A>C (p.Ser219=)
c.591A>C (p.Ser197=)
c.*269A>C (n.*269A>C)
c.678A>C (p.Ser226=)
c.612A>C (p.Ser204=)
5g.42711245A>GCA443847613GHRc.657A>G (p.Ser219=)
c.591A>G (p.Ser197=)
c.*269A>G (n.*269A>G)
c.678A>G (p.Ser226=)
c.612A>G (p.Ser204=)
 ClinVar
5g.42711245A>TCA443847616GHRc.657A>T (p.Ser219=)
c.591A>T (p.Ser197=)
c.*269A>T (n.*269A>T)
c.678A>T (p.Ser226=)
c.612A>T (p.Ser204=)
5g.42711246T>ACA359695861GHRc.658T>A (p.Leu220Met)
c.592T>A (p.Leu198Met)
c.*270T>A (n.*270T>A)
c.679T>A (p.Leu227Met)
c.613T>A (p.Leu205Met)
5g.42711246T>CCA3254466GHRc.658T>C (p.Leu220=)
c.592T>C (p.Leu198=)
c.*270T>C (n.*270T>C)
c.679T>C (p.Leu227=)
c.613T>C (p.Leu205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711246T>GCA359695862GHRc.658T>G (p.Leu220Val)
c.592T>G (p.Leu198Val)
c.*270T>G (n.*270T>G)
c.679T>G (p.Leu227Val)
c.613T>G (p.Leu205Val)
5g.42711246T=CA1542304787GHRc.658T= (p.Leu220=)
c.592T= (p.Leu198=)
c.*270T= (n.*270T=)
c.679T= (p.Leu227=)
c.613T= (p.Leu205=)
5g.42711247T>ACA359695863GHRc.659T>A (p.Leu220Ter)
c.593T>A (p.Leu198Ter)
c.*271T>A (n.*271T>A)
c.680T>A (p.Leu227Ter)
c.614T>A (p.Leu205Ter)
5g.42711247T>CCA359695864GHRc.659T>C (p.Leu220Ser)
c.593T>C (p.Leu198Ser)
c.*271T>C (n.*271T>C)
c.680T>C (p.Leu227Ser)
c.614T>C (p.Leu205Ser)
5g.42711247T>GCA359695865GHRc.659T>G (p.Leu220Trp)
c.593T>G (p.Leu198Trp)
c.*271T>G (n.*271T>G)
c.680T>G (p.Leu227Trp)
c.614T>G (p.Leu205Trp)
5g.42711248G>ACA443847632GHRc.660G>A (p.Leu220=)
c.594G>A (p.Leu198=)
c.*272G>A (n.*272G>A)
c.681G>A (p.Leu227=)
c.615G>A (p.Leu205=)
5g.42711248G>CCA359695866GHRc.660G>C (p.Leu220Phe)
c.594G>C (p.Leu198Phe)
c.*272G>C (n.*272G>C)
c.681G>C (p.Leu227Phe)
c.615G>C (p.Leu205Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.42711248G=CA1542304791GHRc.660G= (p.Leu220=)
c.594G= (p.Leu198=)
c.*272G= (n.*272G=)
c.681G= (p.Leu227=)
c.615G= (p.Leu205=)
5g.42711248G>TCA3254467GHRc.660G>T (p.Leu220Phe)
c.594G>T (p.Leu198Phe)
c.*272G>T (n.*272G>T)
c.681G>T (p.Leu227Phe)
c.615G>T (p.Leu205Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711249A>CCA359695869GHRc.661A>C (p.Lys221Gln)
c.595A>C (p.Lys199Gln)
c.*273A>C (n.*273A>C)
c.682A>C (p.Lys228Gln)
c.616A>C (p.Lys206Gln)
5g.42711249A>GCA359695868GHRc.661A>G (p.Lys221Glu)
c.595A>G (p.Lys199Glu)
c.*273A>G (n.*273A>G)
c.682A>G (p.Lys228Glu)
c.616A>G (p.Lys206Glu)
5g.42711249A>TCA359695867GHRc.661A>T (p.Lys221Ter)
c.595A>T (p.Lys199Ter)
c.*273A>T (n.*273A>T)
c.682A>T (p.Lys228Ter)
c.616A>T (p.Lys206Ter)
 gnomAD v4
5g.42711250A>CCA359695870GHRc.662A>C (p.Lys221Thr)
c.596A>C (p.Lys199Thr)
c.*274A>C (n.*274A>C)
c.683A>C (p.Lys228Thr)
c.617A>C (p.Lys206Thr)
5g.42711250A>GCA359695871GHRc.662A>G (p.Lys221Arg)
c.596A>G (p.Lys199Arg)
c.*274A>G (n.*274A>G)
c.683A>G (p.Lys228Arg)
c.617A>G (p.Lys206Arg)
5g.42711250A>TCA359695872GHRc.662A>T (p.Lys221Ile)
c.596A>T (p.Lys199Ile)
c.*274A>T (n.*274A>T)
c.683A>T (p.Lys228Ile)
c.617A>T (p.Lys206Ile)
5g.42711251A>CCA359695873GHRc.663A>C (p.Lys221Asn)
c.597A>C (p.Lys199Asn)
c.*275A>C (n.*275A>C)
c.684A>C (p.Lys228Asn)
c.618A>C (p.Lys206Asn)
5g.42711251A>GCA443847653GHRc.663A>G (p.Lys221=)
c.597A>G (p.Lys199=)
c.*275A>G (n.*275A>G)
c.684A>G (p.Lys228=)
c.618A>G (p.Lys206=)
5g.42711251A>TCA359695874GHRc.663A>T (p.Lys221Asn)
c.597A>T (p.Lys199Asn)
c.*275A>T (n.*275A>T)
c.684A>T (p.Lys228Asn)
c.618A>T (p.Lys206Asn)
5g.42711252G>ACA359695875GHRc.664G>A (p.Val222Met)
c.598G>A (p.Val200Met)
c.*276G>A (n.*276G>A)
c.685G>A (p.Val229Met)
c.619G>A (p.Val207Met)
5g.42711252G>CCA359695876GHRc.664G>C (p.Val222Leu)
c.598G>C (p.Val200Leu)
c.*276G>C (n.*276G>C)
c.685G>C (p.Val229Leu)
c.619G>C (p.Val207Leu)
5g.42711252G>TCA359695877GHRc.664G>T (p.Val222Leu)
c.598G>T (p.Val200Leu)
c.*276G>T (n.*276G>T)
c.685G>T (p.Val229Leu)
c.619G>T (p.Val207Leu)
5g.42711253T>ACA359695878GHRc.665T>A (p.Val222Glu)
c.599T>A (p.Val200Glu)
c.*277T>A (n.*277T>A)
c.686T>A (p.Val229Glu)
c.620T>A (p.Val207Glu)
5g.42711253T>CCA359695879GHRc.665T>C (p.Val222Ala)
c.599T>C (p.Val200Ala)
c.*277T>C (n.*277T>C)
c.686T>C (p.Val229Ala)
c.620T>C (p.Val207Ala)
 ClinVar
5g.42711253T>GCA359695880GHRc.665T>G (p.Val222Gly)
c.599T>G (p.Val200Gly)
c.*277T>G (n.*277T>G)
c.686T>G (p.Val229Gly)
c.620T>G (p.Val207Gly)
5g.42711254G>ACA443847669GHRc.666G>A (p.Val222=)
c.600G>A (p.Val200=)
c.*278G>A (n.*278G>A)
c.687G>A (p.Val229=)
c.621G>A (p.Val207=)
 dbSNP COSMIC
5g.42711254G>CCA443847671GHRc.666G>C (p.Val222=)
c.600G>C (p.Val200=)
c.*278G>C (n.*278G>C)
c.687G>C (p.Val229=)
c.621G>C (p.Val207=)
5g.42711254G=CA1542304794GHRc.666G= (p.Val222=)
c.600G= (p.Val200=)
c.*278G= (n.*278G=)
c.687G= (p.Val229=)
c.621G= (p.Val207=)
5g.42711254G>TCA443847672GHRc.666G>T (p.Val222=)
c.600G>T (p.Val200=)
c.*278G>T (n.*278G>T)
c.687G>T (p.Val229=)
c.621G>T (p.Val207=)
5g.42711255G>ACA359695883GHRc.667G>A (p.Asp223Asn)
c.601G>A (p.Asp201Asn)
c.*279G>A (n.*279G>A)
c.688G>A (p.Asp230Asn)
c.622G>A (p.Asp208Asn)
5g.42711255G>CCA359695882GHRc.667G>C (p.Asp223His)
c.601G>C (p.Asp201His)
c.*279G>C (n.*279G>C)
c.688G>C (p.Asp230His)
c.622G>C (p.Asp208His)
 gnomAD v4
5g.42711255G>TCA359695881GHRc.667G>T (p.Asp223Tyr)
c.601G>T (p.Asp201Tyr)
c.*279G>T (n.*279G>T)
c.688G>T (p.Asp230Tyr)
c.622G>T (p.Asp208Tyr)
5g.42711256A>CCA359695884GHRc.668A>C (p.Asp223Ala)
c.602A>C (p.Asp201Ala)
c.*280A>C (n.*280A>C)
c.689A>C (p.Asp230Ala)
c.623A>C (p.Asp208Ala)
5g.42711256A>GCA359695886GHRc.668A>G (p.Asp223Gly)
c.602A>G (p.Asp201Gly)
c.*280A>G (n.*280A>G)
c.689A>G (p.Asp230Gly)
c.623A>G (p.Asp208Gly)
 gnomAD v4
5g.42711256A>TCA359695885GHRc.668A>T (p.Asp223Val)
c.602A>T (p.Asp201Val)
c.*280A>T (n.*280A>T)
c.689A>T (p.Asp230Val)
c.623A>T (p.Asp208Val)
5g.42711257T>ACA359695887GHRc.669T>A (p.Asp223Glu)
c.603T>A (p.Asp201Glu)
c.*281T>A (n.*281T>A)
c.690T>A (p.Asp230Glu)
c.624T>A (p.Asp208Glu)
5g.42711257T>CCA3254469GHRc.669T>C (p.Asp223=)
c.603T>C (p.Asp201=)
c.*281T>C (n.*281T>C)
c.690T>C (p.Asp230=)
c.624T>C (p.Asp208=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711257T>GCA359695888GHRc.669T>G (p.Asp223Glu)
c.603T>G (p.Asp201Glu)
c.*281T>G (n.*281T>G)
c.690T>G (p.Asp230Glu)
c.624T>G (p.Asp208Glu)
5g.42711257T=CA1542304797GHRc.669T= (p.Asp223=)
c.603T= (p.Asp201=)
c.*281T= (n.*281T=)
c.690T= (p.Asp230=)
c.624T= (p.Asp208=)
5g.42711257_42711258delinsTACA1542304799GHRc.669_670delinsTA (p.Asp223=)
c.603_604delinsTA (p.Asp201=)
c.*281_*282delinsTA (n.*281_*282delinsTA)
c.690_691delinsTA (p.Asp230=)
c.624_625delinsTA (p.Asp208=)
5g.42711258A>CCA359695889GHRc.670A>C (p.Lys224Gln)
c.604A>C (p.Lys202Gln)
c.*282A>C (n.*282A>C)
c.691A>C (p.Lys231Gln)
c.625A>C (p.Lys209Gln)
5g.42711258A>GCA359695890GHRc.670A>G (p.Lys224Glu)
c.604A>G (p.Lys202Glu)
c.*282A>G (n.*282A>G)
c.691A>G (p.Lys231Glu)
c.625A>G (p.Lys209Glu)
5g.42711258A>TCA359695891GHRc.670A>T (p.Lys224Ter)
c.604A>T (p.Lys202Ter)
c.*282A>T (n.*282A>T)
c.691A>T (p.Lys231Ter)
c.625A>T (p.Lys209Ter)
5g.42711259delCA3254468GHRc.671del (p.Lys224ArgfsTer7)
c.605del (p.Lys202ArgfsTer7)
c.*283del (n.*283del)
c.692del (p.Lys231ArgfsTer7)
c.626del (p.Lys209ArgfsTer7)
 dbSNP ExAC gnomAD v2
5g.42711259A>CCA359695892GHRc.671A>C (p.Lys224Thr)
c.605A>C (p.Lys202Thr)
c.*283A>C (n.*283A>C)
c.692A>C (p.Lys231Thr)
c.626A>C (p.Lys209Thr)
5g.42711259A>GCA359695893GHRc.671A>G (p.Lys224Arg)
c.605A>G (p.Lys202Arg)
c.*283A>G (n.*283A>G)
c.692A>G (p.Lys231Arg)
c.626A>G (p.Lys209Arg)
5g.42711259A>TCA359695894GHRc.671A>T (p.Lys224Met)
c.605A>T (p.Lys202Met)
c.*283A>T (n.*283A>T)
c.692A>T (p.Lys231Met)
c.626A>T (p.Lys209Met)
5g.42711260G>ACA443847717GHRc.672G>A (p.Lys224=)
c.606G>A (p.Lys202=)
c.*284G>A (n.*284G>A)
c.693G>A (p.Lys231=)
c.627G>A (p.Lys209=)
5g.42711260G>CCA359695895GHRc.672G>C (p.Lys224Asn)
c.606G>C (p.Lys202Asn)
c.*284G>C (n.*284G>C)
c.693G>C (p.Lys231Asn)
c.627G>C (p.Lys209Asn)
5g.42711260G>TCA359695896GHRc.672G>T (p.Lys224Asn)
c.606G>T (p.Lys202Asn)
c.*284G>T (n.*284G>T)
c.693G>T (p.Lys231Asn)
c.627G>T (p.Lys209Asn)
5g.42711261G>ACA359695897GHRc.673G>A (p.Glu225Lys)
c.607G>A (p.Glu203Lys)
c.*285G>A (n.*285G>A)
c.694G>A (p.Glu232Lys)
c.628G>A (p.Glu210Lys)
 COSMIC
5g.42711261G>CCA359695899GHRc.673G>C (p.Glu225Gln)
c.607G>C (p.Glu203Gln)
c.*285G>C (n.*285G>C)
c.694G>C (p.Glu232Gln)
c.628G>C (p.Glu210Gln)
5g.42711261G>TCA359695898GHRc.673G>T (p.Glu225Ter)
c.607G>T (p.Glu203Ter)
c.*285G>T (n.*285G>T)
c.694G>T (p.Glu232Ter)
c.628G>T (p.Glu210Ter)
5g.42711262A>CCA359695900GHRc.674A>C (p.Glu225Ala)
c.608A>C (p.Glu203Ala)
c.*286A>C (n.*286A>C)
c.695A>C (p.Glu232Ala)
c.629A>C (p.Glu210Ala)
5g.42711262A>GCA359695901GHRc.674A>G (p.Glu225Gly)
c.608A>G (p.Glu203Gly)
c.*286A>G (n.*286A>G)
c.695A>G (p.Glu232Gly)
c.629A>G (p.Glu210Gly)
5g.42711262A>TCA359695902GHRc.674A>T (p.Glu225Val)
c.608A>T (p.Glu203Val)
c.*286A>T (n.*286A>T)
c.695A>T (p.Glu232Val)
c.629A>T (p.Glu210Val)
5g.42711263A>CCA359695903GHRc.675A>C (p.Glu225Asp)
c.609A>C (p.Glu203Asp)
c.*287A>C (n.*287A>C)
c.696A>C (p.Glu232Asp)
c.630A>C (p.Glu210Asp)
5g.42711263A>GCA443847733GHRc.675A>G (p.Glu225=)
c.609A>G (p.Glu203=)
c.*287A>G (n.*287A>G)
c.696A>G (p.Glu232=)
c.630A>G (p.Glu210=)
 ClinVar
5g.42711263A>TCA359695904GHRc.675A>T (p.Glu225Asp)
c.609A>T (p.Glu203Asp)
c.*287A>T (n.*287A>T)
c.696A>T (p.Glu232Asp)
c.630A>T (p.Glu210Asp)
5g.42711264T>ACA359695905GHRc.676T>A (p.Tyr226Asn)
c.610T>A (p.Tyr204Asn)
c.*288T>A (n.*288T>A)
c.697T>A (p.Tyr233Asn)
c.631T>A (p.Tyr211Asn)
 dbSNP gnomAD v3 gnomAD v4
5g.42711264T>CCA359695906GHRc.676T>C (p.Tyr226His)
c.610T>C (p.Tyr204His)
c.*288T>C (n.*288T>C)
c.697T>C (p.Tyr233His)
c.631T>C (p.Tyr211His)
5g.42711264T>GCA359695907GHRc.676T>G (p.Tyr226Asp)
c.610T>G (p.Tyr204Asp)
c.*288T>G (n.*288T>G)
c.697T>G (p.Tyr233Asp)
c.631T>G (p.Tyr211Asp)
5g.42711264T=CA1542304809GHRc.676T= (p.Tyr226=)
c.610T= (p.Tyr204=)
c.*288T= (n.*288T=)
c.697T= (p.Tyr233=)
c.631T= (p.Tyr211=)
5g.42711265A=CA1542304812GHRc.677A= (p.Tyr226=)
c.611A= (p.Tyr204=)
c.*289A= (n.*289A=)
c.698A= (p.Tyr233=)
c.632A= (p.Tyr211=)
5g.42711265A>CCA359695908GHRc.677A>C (p.Tyr226Ser)
c.611A>C (p.Tyr204Ser)
c.*289A>C (n.*289A>C)
c.698A>C (p.Tyr233Ser)
c.632A>C (p.Tyr211Ser)
5g.42711265A>GCA359695909GHRc.677A>G (p.Tyr226Cys)
c.611A>G (p.Tyr204Cys)
c.*289A>G (n.*289A>G)
c.698A>G (p.Tyr233Cys)
c.632A>G (p.Tyr211Cys)
5g.42711265A>TCA3254470GHRc.677A>T (p.Tyr226Phe)
c.611A>T (p.Tyr204Phe)
c.*289A>T (n.*289A>T)
c.698A>T (p.Tyr233Phe)
c.632A>T (p.Tyr211Phe)
 dbSNP ExAC
5g.42711266T>ACA359695910GHRc.678T>A (p.Tyr226Ter)
c.612T>A (p.Tyr204Ter)
c.*290T>A (n.*290T>A)
c.699T>A (p.Tyr233Ter)
c.633T>A (p.Tyr211Ter)
5g.42711266T>CCA443847750GHRc.678T>C (p.Tyr226=)
c.612T>C (p.Tyr204=)
c.*290T>C (n.*290T>C)
c.699T>C (p.Tyr233=)
c.633T>C (p.Tyr211=)
 gnomAD v4
5g.42711266T>GCA359695911GHRc.678T>G (p.Tyr226Ter)
c.612T>G (p.Tyr204Ter)
c.*290T>G (n.*290T>G)
c.699T>G (p.Tyr233Ter)
c.633T>G (p.Tyr211Ter)
5g.42711267G>ACA359695912GHRc.679G>A (p.Glu227Lys)
c.613G>A (p.Glu205Lys)
c.*291G>A (n.*291G>A)
c.700G>A (p.Glu234Lys)
c.634G>A (p.Glu212Lys)
 COSMIC
5g.42711267G>CCA359695913GHRc.679G>C (p.Glu227Gln)
c.613G>C (p.Glu205Gln)
c.*291G>C (n.*291G>C)
c.700G>C (p.Glu234Gln)
c.634G>C (p.Glu212Gln)
5g.42711267G>TCA359695914GHRc.679G>T (p.Glu227Ter)
c.613G>T (p.Glu205Ter)
c.*291G>T (n.*291G>T)
c.700G>T (p.Glu234Ter)
c.634G>T (p.Glu212Ter)
5g.42711268A>CCA359695915GHRc.680A>C (p.Glu227Ala)
c.614A>C (p.Glu205Ala)
c.*292A>C (n.*292A>C)
c.701A>C (p.Glu234Ala)
c.635A>C (p.Glu212Ala)
5g.42711268A>GCA359695916GHRc.680A>G (p.Glu227Gly)
c.614A>G (p.Glu205Gly)
c.*292A>G (n.*292A>G)
c.701A>G (p.Glu234Gly)
c.635A>G (p.Glu212Gly)
5g.42711268A>TCA359695917GHRc.680A>T (p.Glu227Val)
c.614A>T (p.Glu205Val)
c.*292A>T (n.*292A>T)
c.701A>T (p.Glu234Val)
c.635A>T (p.Glu212Val)
5g.42711269A=CA1542304817GHRc.681A= (p.Glu227=)
c.615A= (p.Glu205=)
c.*293A= (n.*293A=)
c.702A= (p.Glu234=)
c.636A= (p.Glu212=)
5g.42711269A>CCA3254471GHRc.681A>C (p.Glu227Asp)
c.615A>C (p.Glu205Asp)
c.*293A>C (n.*293A>C)
c.702A>C (p.Glu234Asp)
c.636A>C (p.Glu212Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711269A>GCA443847769GHRc.681A>G (p.Glu227=)
c.615A>G (p.Glu205=)
c.*293A>G (n.*293A>G)
c.702A>G (p.Glu234=)
c.636A>G (p.Glu212=)
5g.42711269A>TCA359695918GHRc.681A>T (p.Glu227Asp)
c.615A>T (p.Glu205Asp)
c.*293A>T (n.*293A>T)
c.702A>T (p.Glu234Asp)
c.636A>T (p.Glu212Asp)
5g.42711270G>ACA359695919GHRc.682G>A (p.Val228Met)
c.616G>A (p.Val206Met)
c.*294G>A (n.*294G>A)
c.703G>A (p.Val235Met)
c.637G>A (p.Val213Met)
5g.42711270G>CCA359695920GHRc.682G>C (p.Val228Leu)
c.616G>C (p.Val206Leu)
c.*294G>C (n.*294G>C)
c.703G>C (p.Val235Leu)
c.637G>C (p.Val213Leu)
5g.42711270G>TCA359695921GHRc.682G>T (p.Val228Leu)
c.616G>T (p.Val206Leu)
c.*294G>T (n.*294G>T)
c.703G>T (p.Val235Leu)
c.637G>T (p.Val213Leu)
5g.42711271T>ACA359695922GHRc.683T>A (p.Val228Glu)
c.617T>A (p.Val206Glu)
c.*295T>A (n.*295T>A)
c.704T>A (p.Val235Glu)
c.638T>A (p.Val213Glu)
5g.42711271T>CCA359695923GHRc.683T>C (p.Val228Ala)
c.617T>C (p.Val206Ala)
c.*295T>C (n.*295T>C)
c.704T>C (p.Val235Ala)
c.638T>C (p.Val213Ala)
5g.42711271T>GCA359695924GHRc.683T>G (p.Val228Gly)
c.617T>G (p.Val206Gly)
c.*295T>G (n.*295T>G)
c.704T>G (p.Val235Gly)
c.638T>G (p.Val213Gly)
 dbSNP
5g.42711271T=CA1542304821GHRc.683T= (p.Val228=)
c.617T= (p.Val206=)
c.*295T= (n.*295T=)
c.704T= (p.Val235=)
c.638T= (p.Val213=)
5g.42711272G>ACA3254472GHRc.684G>A (p.Val228=)
c.618G>A (p.Val206=)
c.*296G>A (n.*296G>A)
c.705G>A (p.Val235=)
c.639G>A (p.Val213=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711272G>CCA443847786GHRc.684G>C (p.Val228=)
c.618G>C (p.Val206=)
c.*296G>C (n.*296G>C)
c.705G>C (p.Val235=)
c.639G>C (p.Val213=)
 gnomAD v4
5g.42711272G=CA1542304827GHRc.684G= (p.Val228=)
c.618G= (p.Val206=)
c.*296G= (n.*296G=)
c.705G= (p.Val235=)
c.639G= (p.Val213=)
5g.42711272G>TCA443847788GHRc.684G>T (p.Val228=)
c.618G>T (p.Val206=)
c.*296G>T (n.*296G>T)
c.705G>T (p.Val235=)
c.639G>T (p.Val213=)
5g.42711273C>ACA359695925GHRc.685C>A (p.Arg229Ser)
c.619C>A (p.Arg207Ser)
c.*297C>A (n.*297C>A)
c.706C>A (p.Arg236Ser)
c.640C>A (p.Arg214Ser)
 gnomAD v4
5g.42711273C=CA1542304833GHRc.685C= (p.Arg229=)
c.619C= (p.Arg207=)
c.*297C= (n.*297C=)
c.706C= (p.Arg236=)
c.640C= (p.Arg214=)
5g.42711273C>GCA359695926GHRc.685C>G (p.Arg229Gly)
c.619C>G (p.Arg207Gly)
c.*297C>G (n.*297C>G)
c.706C>G (p.Arg236Gly)
c.640C>G (p.Arg214Gly)
 ClinVar
5g.42711273C>TCA3254473GHRc.685C>T (p.Arg229Cys)
c.619C>T (p.Arg207Cys)
c.*297C>T (n.*297C>T)
c.706C>T (p.Arg236Cys)
c.640C>T (p.Arg214Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
5g.42711274G>ACA3254474GHRc.686G>A (p.Arg229His)
c.620G>A (p.Arg207His)
c.*298G>A (n.*298G>A)
c.707G>A (p.Arg236His)
c.641G>A (p.Arg214His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711274G>CCA359695927GHRc.686G>C (p.Arg229Pro)
c.620G>C (p.Arg207Pro)
c.*298G>C (n.*298G>C)
c.707G>C (p.Arg236Pro)
c.641G>C (p.Arg214Pro)
5g.42711274G=CA1542304838GHRc.686G= (p.Arg229=)
c.620G= (p.Arg207=)
c.*298G= (n.*298G=)
c.707G= (p.Arg236=)
c.641G= (p.Arg214=)
5g.42711274G>TCA3254475GHRc.686G>T (p.Arg229Leu)
c.620G>T (p.Arg207Leu)
c.*298G>T (n.*298G>T)
c.707G>T (p.Arg236Leu)
c.641G>T (p.Arg214Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711275T>ACA443847804GHRc.687T>A (p.Arg229=)
c.621T>A (p.Arg207=)
c.*299T>A (n.*299T>A)
c.708T>A (p.Arg236=)
c.642T>A (p.Arg214=)
5g.42711275T>CCA443847807GHRc.687T>C (p.Arg229=)
c.621T>C (p.Arg207=)
c.*299T>C (n.*299T>C)
c.708T>C (p.Arg236=)
c.642T>C (p.Arg214=)
5g.42711275T>GCA443847806GHRc.687T>G (p.Arg229=)
c.621T>G (p.Arg207=)
c.*299T>G (n.*299T>G)
c.708T>G (p.Arg236=)
c.642T>G (p.Arg214=)
5g.42711276G>ACA359695928GHRc.688G>A (p.Val230Met)
c.622G>A (p.Val208Met)
c.*300G>A (n.*300G>A)
c.709G>A (p.Val237Met)
c.643G>A (p.Val215Met)
5g.42711276G>CCA359695929GHRc.688G>C (p.Val230Leu)
c.622G>C (p.Val208Leu)
c.*300G>C (n.*300G>C)
c.709G>C (p.Val237Leu)
c.643G>C (p.Val215Leu)
5g.42711276G>TCA359695930GHRc.688G>T (p.Val230Leu)
c.622G>T (p.Val208Leu)
c.*300G>T (n.*300G>T)
c.709G>T (p.Val237Leu)
c.643G>T (p.Val215Leu)
 gnomAD v4
5g.42711277T>ACA359695931GHRc.689T>A (p.Val230Glu)
c.623T>A (p.Val208Glu)
c.*301T>A (n.*301T>A)
c.710T>A (p.Val237Glu)
c.644T>A (p.Val215Glu)
5g.42711277T>CCA359695932GHRc.689T>C (p.Val230Ala)
c.623T>C (p.Val208Ala)
c.*301T>C (n.*301T>C)
c.710T>C (p.Val237Ala)
c.644T>C (p.Val215Ala)
5g.42711277T>GCA359695933GHRc.689T>G (p.Val230Gly)
c.623T>G (p.Val208Gly)
c.*301T>G (n.*301T>G)
c.710T>G (p.Val237Gly)
c.644T>G (p.Val215Gly)
 gnomAD v4
5g.42711278G>ACA443847814GHRc.690G>A (p.Val230=)
c.624G>A (p.Val208=)
c.*302G>A (n.*302G>A)
c.711G>A (p.Val237=)
c.645G>A (p.Val215=)
5g.42711278G>CCA443847817GHRc.690G>C (p.Val230=)
c.624G>C (p.Val208=)
c.*302G>C (n.*302G>C)
c.711G>C (p.Val237=)
c.645G>C (p.Val215=)
5g.42711278G>TCA443847818GHRc.690G>T (p.Val230=)
c.624G>T (p.Val208=)
c.*302G>T (n.*302G>T)
c.711G>T (p.Val237=)
c.645G>T (p.Val215=)
5g.42711279A=CA1542304844GHRc.691A= (p.Arg231=)
c.625A= (p.Arg209=)
c.*303A= (n.*303A=)
c.712A= (p.Arg238=)
c.646A= (p.Arg216=)
5g.42711279A>CCA3254476GHRc.691A>C (p.Arg231=)
c.625A>C (p.Arg209=)
c.*303A>C (n.*303A>C)
c.712A>C (p.Arg238=)
c.646A>C (p.Arg216=)
 dbSNP ExAC gnomAD v2
5g.42711279A>GCA359695935GHRc.691A>G (p.Arg231Gly)
c.625A>G (p.Arg209Gly)
c.*303A>G (n.*303A>G)
c.712A>G (p.Arg238Gly)
c.646A>G (p.Arg216Gly)
 dbSNP
5g.42711279A>TCA359695934GHRc.691A>T (p.Arg231Ter)
c.625A>T (p.Arg209Ter)
c.*303A>T (n.*303A>T)
c.712A>T (p.Arg238Ter)
c.646A>T (p.Arg216Ter)
5g.42711280G>ACA3254477GHRc.692G>A (p.Arg231Lys)
c.626G>A (p.Arg209Lys)
c.*304G>A (n.*304G>A)
c.713G>A (p.Arg238Lys)
c.647G>A (p.Arg216Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711280G>CCA359695937GHRc.692G>C (p.Arg231Thr)
c.626G>C (p.Arg209Thr)
c.*304G>C (n.*304G>C)
c.713G>C (p.Arg238Thr)
c.647G>C (p.Arg216Thr)
5g.42711280G=CA1542304847GHRc.692G= (p.Arg231=)
c.626G= (p.Arg209=)
c.*304G= (n.*304G=)
c.713G= (p.Arg238=)
c.647G= (p.Arg216=)
5g.42711280G>TCA359695936GHRc.692G>T (p.Arg231Ile)
c.626G>T (p.Arg209Ile)
c.*304G>T (n.*304G>T)
c.713G>T (p.Arg238Ile)
c.647G>T (p.Arg216Ile)
5g.42711281A>CCA359695938GHRc.693A>C (p.Arg231Ser)
c.627A>C (p.Arg209Ser)
c.*305A>C (n.*305A>C)
c.714A>C (p.Arg238Ser)
c.648A>C (p.Arg216Ser)
5g.42711281A>GCA443847827GHRc.693A>G (p.Arg231=)
c.627A>G (p.Arg209=)
c.*305A>G (n.*305A>G)
c.714A>G (p.Arg238=)
c.648A>G (p.Arg216=)
5g.42711281A>TCA359695939GHRc.693A>T (p.Arg231Ser)
c.627A>T (p.Arg209Ser)
c.*305A>T (n.*305A>T)
c.714A>T (p.Arg238Ser)
c.648A>T (p.Arg216Ser)
5g.42711282T>ACA359695940GHRc.694T>A (p.Ser232Thr)
c.628T>A (p.Ser210Thr)
c.*306T>A (n.*306T>A)
c.715T>A (p.Ser239Thr)
c.649T>A (p.Ser217Thr)
5g.42711282T>CCA359695941GHRc.694T>C (p.Ser232Pro)
c.628T>C (p.Ser210Pro)
c.*306T>C (n.*306T>C)
c.715T>C (p.Ser239Pro)
c.649T>C (p.Ser217Pro)
5g.42711282T>GCA359695942GHRc.694T>G (p.Ser232Ala)
c.628T>G (p.Ser210Ala)
c.*306T>G (n.*306T>G)
c.715T>G (p.Ser239Ala)
c.649T>G (p.Ser217Ala)
 gnomAD v4
5g.42711283C>ACA359695943GHRc.695C>A (p.Ser232Tyr)
c.629C>A (p.Ser210Tyr)
c.*307C>A (n.*307C>A)
c.716C>A (p.Ser239Tyr)
c.650C>A (p.Ser217Tyr)
5g.42711283C>GCA359695944GHRc.695C>G (p.Ser232Cys)
c.629C>G (p.Ser210Cys)
c.*307C>G (n.*307C>G)
c.716C>G (p.Ser239Cys)
c.650C>G (p.Ser217Cys)
5g.42711283C>TCA359695945GHRc.695C>T (p.Ser232Phe)
c.629C>T (p.Ser210Phe)
c.*307C>T (n.*307C>T)
c.716C>T (p.Ser239Phe)
c.650C>T (p.Ser217Phe)
5g.42711284C>ACA443847835GHRc.696C>A (p.Ser232=)
c.630C>A (p.Ser210=)
c.*308C>A (n.*308C>A)
c.717C>A (p.Ser239=)
c.651C>A (p.Ser217=)
5g.42711284C>GCA443847837GHRc.696C>G (p.Ser232=)
c.630C>G (p.Ser210=)
c.*308C>G (n.*308C>G)
c.717C>G (p.Ser239=)
c.651C>G (p.Ser217=)
5g.42711284C>TCA443847839GHRc.696C>T (p.Ser232=)
c.630C>T (p.Ser210=)
c.*308C>T (n.*308C>T)
c.717C>T (p.Ser239=)
c.651C>T (p.Ser217=)
5g.42711285A>CCA359695948GHRc.697A>C (p.Lys233Gln)
c.631A>C (p.Lys211Gln)
c.*309A>C (n.*309A>C)
c.718A>C (p.Lys240Gln)
c.652A>C (p.Lys218Gln)
5g.42711285A>GCA359695946GHRc.697A>G (p.Lys233Glu)
c.631A>G (p.Lys211Glu)
c.*309A>G (n.*309A>G)
c.718A>G (p.Lys240Glu)
c.652A>G (p.Lys218Glu)
5g.42711285A>TCA359695947GHRc.697A>T (p.Lys233Ter)
c.631A>T (p.Lys211Ter)
c.*309A>T (n.*309A>T)
c.718A>T (p.Lys240Ter)
c.652A>T (p.Lys218Ter)
 ClinVar
5g.42711286A>CCA359695949GHRc.698A>C (p.Lys233Thr)
c.632A>C (p.Lys211Thr)
c.*310A>C (n.*310A>C)
c.719A>C (p.Lys240Thr)
c.653A>C (p.Lys218Thr)
5g.42711286A>GCA359695950GHRc.698A>G (p.Lys233Arg)
c.632A>G (p.Lys211Arg)
c.*310A>G (n.*310A>G)
c.719A>G (p.Lys240Arg)
c.653A>G (p.Lys218Arg)
5g.42711286A>TCA359695951GHRc.698A>T (p.Lys233Ile)
c.632A>T (p.Lys211Ile)
c.*310A>T (n.*310A>T)
c.719A>T (p.Lys240Ile)
c.653A>T (p.Lys218Ile)
5g.42711287A=CA1542304853GHRc.699A= (p.Lys233=)
c.633A= (p.Lys211=)
c.*311A= (n.*311A=)
c.720A= (p.Lys240=)
c.654A= (p.Lys218=)
5g.42711287A>CCA359695952GHRc.699A>C (p.Lys233Asn)
c.633A>C (p.Lys211Asn)
c.*311A>C (n.*311A>C)
c.720A>C (p.Lys240Asn)
c.654A>C (p.Lys218Asn)
5g.42711287A>GCA443847846GHRc.699A>G (p.Lys233=)
c.633A>G (p.Lys211=)
c.*311A>G (n.*311A>G)
c.720A>G (p.Lys240=)
c.654A>G (p.Lys218=)
 ClinVar dbSNP gnomAD v4
5g.42711287A>TCA359695953GHRc.699A>T (p.Lys233Asn)
c.633A>T (p.Lys211Asn)
c.*311A>T (n.*311A>T)
c.720A>T (p.Lys240Asn)
c.654A>T (p.Lys218Asn)
5g.42711288C>ACA359695954GHRc.700C>A (p.Gln234Lys)
c.634C>A (p.Gln212Lys)
c.*312C>A (n.*312C>A)
c.721C>A (p.Gln241Lys)
c.655C>A (p.Gln219Lys)
 gnomAD v4
5g.42711288C>GCA359695956GHRc.700C>G (p.Gln234Glu)
c.634C>G (p.Gln212Glu)
c.*312C>G (n.*312C>G)
c.721C>G (p.Gln241Glu)
c.655C>G (p.Gln219Glu)
5g.42711288C>TCA359695955GHRc.700C>T (p.Gln234Ter)
c.634C>T (p.Gln212Ter)
c.*312C>T (n.*312C>T)
c.721C>T (p.Gln241Ter)
c.655C>T (p.Gln219Ter)
5g.42711289A=CA1542304854GHRc.701A= (p.Gln234=)
c.635A= (p.Gln212=)
c.*313A= (n.*313A=)
c.722A= (p.Gln241=)
c.656A= (p.Gln219=)
5g.42711289A>CCA359695957GHRc.701A>C (p.Gln234Pro)
c.635A>C (p.Gln212Pro)
c.*313A>C (n.*313A>C)
c.722A>C (p.Gln241Pro)
c.656A>C (p.Gln219Pro)
5g.42711289A>GCA359695958GHRc.701A>G (p.Gln234Arg)
c.635A>G (p.Gln212Arg)
c.*313A>G (n.*313A>G)
c.722A>G (p.Gln241Arg)
c.656A>G (p.Gln219Arg)
5g.42711289A>TCA359695959GHRc.701A>T (p.Gln234Leu)
c.635A>T (p.Gln212Leu)
c.*313A>T (n.*313A>T)
c.722A>T (p.Gln241Leu)
c.656A>T (p.Gln219Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.42711289_42711290insCACCCAACACCA2766052882GHRc.701_702insCACCCAACAC (p.Gln234HisfsTer15)
c.635_636insCACCCAACAC (p.Gln212HisfsTer15)
c.*313_*314insCACCCAACAC (n.*313_*314insCACCCAACAC)
c.722_723insCACCCAACAC (p.Gln241HisfsTer15)
c.656_657insCACCCAACAC (p.Gln219HisfsTer15)
5g.42711290A>CCA359695960GHRc.702A>C (p.Gln234His)
c.636A>C (p.Gln212His)
c.*314A>C (n.*314A>C)
c.723A>C (p.Gln241His)
c.657A>C (p.Gln219His)
5g.42711290A>GCA443847856GHRc.702A>G (p.Gln234=)
c.636A>G (p.Gln212=)
c.*314A>G (n.*314A>G)
c.723A>G (p.Gln241=)
c.657A>G (p.Gln219=)
5g.42711290A>TCA359695961GHRc.702A>T (p.Gln234His)
c.636A>T (p.Gln212His)
c.*314A>T (n.*314A>T)
c.723A>T (p.Gln241His)
c.657A>T (p.Gln219His)
 COSMIC
5g.42711291C>ACA443847861GHRc.703C>A (p.Arg235=)
c.637C>A (p.Arg213=)
c.*315C>A (n.*315C>A)
c.724C>A (p.Arg242=)
c.658C>A (p.Arg220=)
5g.42711291C=CA1542304857GHRc.703C= (p.Arg235=)
c.637C= (p.Arg213=)
c.*315C= (n.*315C=)
c.724C= (p.Arg242=)
c.658C= (p.Arg220=)
5g.42711291C>GCA359695962GHRc.703C>G (p.Arg235Gly)
c.637C>G (p.Arg213Gly)
c.*315C>G (n.*315C>G)
c.724C>G (p.Arg242Gly)
c.658C>G (p.Arg220Gly)
5g.42711291C>TCA119802GHRc.703C>T (p.Arg235Ter)
c.637C>T (p.Arg213Ter)
c.*315C>T (n.*315C>T)
c.724C>T (p.Arg242Ter)
c.658C>T (p.Arg220Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711292G>ACA118049495GHRc.704G>A (p.Arg235Gln)
c.638G>A (p.Arg213Gln)
c.*316G>A (n.*316G>A)
c.725G>A (p.Arg242Gln)
c.659G>A (p.Arg220Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.42711292G>CCA359695963GHRc.704G>C (p.Arg235Pro)
c.638G>C (p.Arg213Pro)
c.*316G>C (n.*316G>C)
c.725G>C (p.Arg242Pro)
c.659G>C (p.Arg220Pro)
5g.42711292G=CA1542304861GHRc.704G= (p.Arg235=)
c.638G= (p.Arg213=)
c.*316G= (n.*316G=)
c.725G= (p.Arg242=)
c.659G= (p.Arg220=)
5g.42711292G>TCA359695964GHRc.704G>T (p.Arg235Leu)
c.638G>T (p.Arg213Leu)
c.*316G>T (n.*316G>T)
c.725G>T (p.Arg242Leu)
c.659G>T (p.Arg220Leu)
5g.42711293A=CA1542304865GHRc.705A= (p.Arg235=)
c.639A= (p.Arg213=)
c.*317A= (n.*317A=)
c.726A= (p.Arg242=)
c.660A= (p.Arg220=)
5g.42711293A>CCA118049496GHRc.705A>C (p.Arg235=)
c.639A>C (p.Arg213=)
c.*317A>C (n.*317A>C)
c.726A>C (p.Arg242=)
c.660A>C (p.Arg220=)
 dbSNP gnomAD v2 gnomAD v4
5g.42711293A>GCA443847867GHRc.705A>G (p.Arg235=)
c.639A>G (p.Arg213=)
c.*317A>G (n.*317A>G)
c.726A>G (p.Arg242=)
c.660A>G (p.Arg220=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.42711293A>TCA443847868GHRc.705A>T (p.Arg235=)
c.639A>T (p.Arg213=)
c.*317A>T (n.*317A>T)
c.726A>T (p.Arg242=)
c.660A>T (p.Arg220=)
5g.42711295dupCA2596186867GHRc.707dup (p.Asn236LysfsTer10)
c.641dup (p.Asn214LysfsTer10)
c.*319dup (n.*319dup)
c.728dup (p.Asn243LysfsTer10)
c.662dup (p.Asn221LysfsTer10)
 gnomAD v3 gnomAD v4
5g.42711295delCA559293442GHRc.707del (p.Asn236ThrfsTer14)
c.641del (p.Asn214ThrfsTer14)
c.*319del (n.*319del)
c.728del (p.Asn243ThrfsTer14)
c.662del (p.Asn221ThrfsTer14)
 gnomAD v2 gnomAD v4
5g.42711294A>CCA359695965GHRc.706A>C (p.Asn236His)
c.640A>C (p.Asn214His)
c.*318A>C (n.*318A>C)
c.727A>C (p.Asn243His)
c.661A>C (p.Asn221His)
5g.42711294A>GCA359695967GHRc.706A>G (p.Asn236Asp)
c.640A>G (p.Asn214Asp)
c.*318A>G (n.*318A>G)
c.727A>G (p.Asn243Asp)
c.661A>G (p.Asn221Asp)
5g.42711294A>TCA359695966GHRc.706A>T (p.Asn236Tyr)
c.640A>T (p.Asn214Tyr)
c.*318A>T (n.*318A>T)
c.727A>T (p.Asn243Tyr)
c.661A>T (p.Asn221Tyr)
5g.42711295A>CCA359695968GHRc.707A>C (p.Asn236Thr)
c.641A>C (p.Asn214Thr)
c.*319A>C (n.*319A>C)
c.728A>C (p.Asn243Thr)
c.662A>C (p.Asn221Thr)
 COSMIC
5g.42711295A>GCA359695969GHRc.707A>G (p.Asn236Ser)
c.641A>G (p.Asn214Ser)
c.*319A>G (n.*319A>G)
c.728A>G (p.Asn243Ser)
c.662A>G (p.Asn221Ser)
5g.42711295A>TCA359695970GHRc.707A>T (p.Asn236Ile)
c.641A>T (p.Asn214Ile)
c.*319A>T (n.*319A>T)
c.728A>T (p.Asn243Ile)
c.662A>T (p.Asn221Ile)
5g.42711296C>ACA359695971GHRc.708C>A (p.Asn236Lys)
c.642C>A (p.Asn214Lys)
c.*320C>A (n.*320C>A)
c.729C>A (p.Asn243Lys)
c.663C>A (p.Asn221Lys)
5g.42711296C>GCA359695972GHRc.708C>G (p.Asn236Lys)
c.642C>G (p.Asn214Lys)
c.*320C>G (n.*320C>G)
c.729C>G (p.Asn243Lys)
c.663C>G (p.Asn221Lys)
5g.42711296C>TCA443847877GHRc.708C>T (p.Asn236=)
c.642C>T (p.Asn214=)
c.*320C>T (n.*320C>T)
c.729C>T (p.Asn243=)
c.663C>T (p.Asn221=)
5g.42711297T>ACA359695973GHRc.709T>A (p.Ser237Thr)
c.643T>A (p.Ser215Thr)
c.*321T>A (n.*321T>A)
c.730T>A (p.Ser244Thr)
c.664T>A (p.Ser222Thr)
5g.42711297T>CCA359695974GHRc.709T>C (p.Ser237Pro)
c.643T>C (p.Ser215Pro)
c.*321T>C (n.*321T>C)
c.730T>C (p.Ser244Pro)
c.664T>C (p.Ser222Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.42711297T>GCA359695975GHRc.709T>G (p.Ser237Ala)
c.643T>G (p.Ser215Ala)
c.*321T>G (n.*321T>G)
c.730T>G (p.Ser244Ala)
c.664T>G (p.Ser222Ala)
5g.42711297T=CA1542304873GHRc.709T= (p.Ser237=)
c.643T= (p.Ser215=)
c.*321T= (n.*321T=)
c.730T= (p.Ser244=)
c.664T= (p.Ser222=)
5g.42711298C>ACA359695976GHRc.710C>A (p.Ser237Tyr)
c.644C>A (p.Ser215Tyr)
c.*322C>A (n.*322C>A)
c.731C>A (p.Ser244Tyr)
c.665C>A (p.Ser222Tyr)
5g.42711298C>GCA359695977GHRc.710C>G (p.Ser237Cys)
c.644C>G (p.Ser215Cys)
c.*322C>G (n.*322C>G)
c.731C>G (p.Ser244Cys)
c.665C>G (p.Ser222Cys)
5g.42711298C>TCA359695978GHRc.710C>T (p.Ser237Phe)
c.644C>T (p.Ser215Phe)
c.*322C>T (n.*322C>T)
c.731C>T (p.Ser244Phe)
c.665C>T (p.Ser222Phe)
5g.42711299T>ACA443847891GHRc.711T>A (p.Ser237=)
c.645T>A (p.Ser215=)
c.*323T>A (n.*323T>A)
c.732T>A (p.Ser244=)
c.666T>A (p.Ser222=)
5g.42711299T>CCA443847889GHRc.711T>C (p.Ser237=)
c.645T>C (p.Ser215=)
c.*323T>C (n.*323T>C)
c.732T>C (p.Ser244=)
c.666T>C (p.Ser222=)
5g.42711299T>GCA443847887GHRc.711T>G (p.Ser237=)
c.645T>G (p.Ser215=)
c.*323T>G (n.*323T>G)
c.732T>G (p.Ser244=)
c.666T>G (p.Ser222=)
5g.42711300G>ACA359695981GHRc.712G>A (p.Gly238Arg)
c.646G>A (p.Gly216Arg)
c.*324G>A (n.*324G>A)
c.733G>A (p.Gly245Arg)
c.667G>A (p.Gly223Arg)
5g.42711300G>CCA359695979GHRc.712G>C (p.Gly238Arg)
c.646G>C (p.Gly216Arg)
c.*324G>C (n.*324G>C)
c.733G>C (p.Gly245Arg)
c.667G>C (p.Gly223Arg)
5g.42711300G>TCA359695980GHRc.712G>T (p.Gly238Ter)
c.646G>T (p.Gly216Ter)
c.*324G>T (n.*324G>T)
c.733G>T (p.Gly245Ter)
c.667G>T (p.Gly223Ter)
5g.42711301G>ACA359695982GHRc.713G>A (p.Gly238Glu)
c.647G>A (p.Gly216Glu)
c.*325G>A (n.*325G>A)
c.734G>A (p.Gly245Glu)
c.668G>A (p.Gly223Glu)
 COSMIC
5g.42711301G>CCA359695983GHRc.713G>C (p.Gly238Ala)
c.647G>C (p.Gly216Ala)
c.*325G>C (n.*325G>C)
c.734G>C (p.Gly245Ala)
c.668G>C (p.Gly223Ala)
5g.42711301G>TCA359695984GHRc.713G>T (p.Gly238Val)
c.647G>T (p.Gly216Val)
c.*325G>T (n.*325G>T)
c.734G>T (p.Gly245Val)
c.668G>T (p.Gly223Val)
5g.42711302A>CCA443847898GHRc.714A>C (p.Gly238=)
c.648A>C (p.Gly216=)
c.*326A>C (n.*326A>C)
c.735A>C (p.Gly245=)
c.669A>C (p.Gly223=)
5g.42711302A>GCA443847902GHRc.714A>G (p.Gly238=)
c.648A>G (p.Gly216=)
c.*326A>G (n.*326A>G)
c.735A>G (p.Gly245=)
c.669A>G (p.Gly223=)
5g.42711302A>TCA443847900GHRc.714A>T (p.Gly238=)
c.648A>T (p.Gly216=)
c.*326A>T (n.*326A>T)
c.735A>T (p.Gly245=)
c.669A>T (p.Gly223=)
5g.42711303A>CCA359695985GHRc.715A>C (p.Asn239His)
c.649A>C (p.Asn217His)
c.*327A>C (n.*327A>C)
c.736A>C (p.Asn246His)
c.670A>C (p.Asn224His)
5g.42711303A>GCA359695986GHRc.715A>G (p.Asn239Asp)
c.649A>G (p.Asn217Asp)
c.*327A>G (n.*327A>G)
c.736A>G (p.Asn246Asp)
c.670A>G (p.Asn224Asp)
5g.42711303A>TCA359695987GHRc.715A>T (p.Asn239Tyr)
c.649A>T (p.Asn217Tyr)
c.*327A>T (n.*327A>T)
c.736A>T (p.Asn246Tyr)
c.670A>T (p.Asn224Tyr)
5g.42711304A>CCA359695988GHRc.716A>C (p.Asn239Thr)
c.650A>C (p.Asn217Thr)
c.*328A>C (n.*328A>C)
c.737A>C (p.Asn246Thr)
c.671A>C (p.Asn224Thr)
5g.42711304A>GCA359695989GHRc.716A>G (p.Asn239Ser)
c.650A>G (p.Asn217Ser)
c.*328A>G (n.*328A>G)
c.737A>G (p.Asn246Ser)
c.671A>G (p.Asn224Ser)
5g.42711304A>TCA359695990GHRc.716A>T (p.Asn239Ile)
c.650A>T (p.Asn217Ile)
c.*328A>T (n.*328A>T)
c.737A>T (p.Asn246Ile)
c.671A>T (p.Asn224Ile)
5g.42711305T>ACA359695991GHRc.717T>A (p.Asn239Lys)
c.651T>A (p.Asn217Lys)
c.*329T>A (n.*329T>A)
c.738T>A (p.Asn246Lys)
c.672T>A (p.Asn224Lys)
5g.42711305T>CCA443847910GHRc.717T>C (p.Asn239=)
c.651T>C (p.Asn217=)
c.*329T>C (n.*329T>C)
c.738T>C (p.Asn246=)
c.672T>C (p.Asn224=)
5g.42711305T>GCA359695992GHRc.717T>G (p.Asn239Lys)
c.651T>G (p.Asn217Lys)
c.*329T>G (n.*329T>G)
c.738T>G (p.Asn246Lys)
c.672T>G (p.Asn224Lys)
5g.42711306T>ACA359695994GHRc.718T>A (p.Tyr240Asn)
c.652T>A (p.Tyr218Asn)
c.*330T>A (n.*330T>A)
c.739T>A (p.Tyr247Asn)
c.673T>A (p.Tyr225Asn)
5g.42711306T>CCA247036GHRc.718T>C (p.Tyr240His)
c.652T>C (p.Tyr218His)
c.*330T>C (n.*330T>C)
c.739T>C (p.Tyr247His)
c.673T>C (p.Tyr225His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711306T>GCA359695993GHRc.718T>G (p.Tyr240Asp)
c.652T>G (p.Tyr218Asp)
c.*330T>G (n.*330T>G)
c.739T>G (p.Tyr247Asp)
c.673T>G (p.Tyr225Asp)
5g.42711306T=CA1542304880GHRc.718T= (p.Tyr240=)
c.652T= (p.Tyr218=)
c.*330T= (n.*330T=)
c.739T= (p.Tyr247=)
c.673T= (p.Tyr225=)
5g.42711307A=CA1542304883GHRc.719A= (p.Tyr240=)
c.653A= (p.Tyr218=)
c.*331A= (n.*331A=)
c.740A= (p.Tyr247=)
c.674A= (p.Tyr225=)
5g.42711307A>CCA359695997GHRc.719A>C (p.Tyr240Ser)
c.653A>C (p.Tyr218Ser)
c.*331A>C (n.*331A>C)
c.740A>C (p.Tyr247Ser)
c.674A>C (p.Tyr225Ser)
5g.42711307A>GCA359695995GHRc.719A>G (p.Tyr240Cys)
c.653A>G (p.Tyr218Cys)
c.*331A>G (n.*331A>G)
c.740A>G (p.Tyr247Cys)
c.674A>G (p.Tyr225Cys)
 dbSNP gnomAD v3 gnomAD v4
5g.42711307A>TCA359695996GHRc.719A>T (p.Tyr240Phe)
c.653A>T (p.Tyr218Phe)
c.*331A>T (n.*331A>T)
c.740A>T (p.Tyr247Phe)
c.674A>T (p.Tyr225Phe)
5g.42711308T>ACA359695998GHRc.720T>A (p.Tyr240Ter)
c.654T>A (p.Tyr218Ter)
c.*332T>A (n.*332T>A)
c.741T>A (p.Tyr247Ter)
c.675T>A (p.Tyr225Ter)
5g.42711308T>CCA443847922GHRc.720T>C (p.Tyr240=)
c.654T>C (p.Tyr218=)
c.*332T>C (n.*332T>C)
c.741T>C (p.Tyr247=)
c.675T>C (p.Tyr225=)
 gnomAD v4
5g.42711308T>GCA359695999GHRc.720T>G (p.Tyr240Ter)
c.654T>G (p.Tyr218Ter)
c.*332T>G (n.*332T>G)
c.741T>G (p.Tyr247Ter)
c.675T>G (p.Tyr225Ter)
5g.42711309G>ACA359696000GHRc.721G>A (p.Gly241Ser)
c.655G>A (p.Gly219Ser)
c.*333G>A (n.*333G>A)
c.742G>A (p.Gly248Ser)
c.676G>A (p.Gly226Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.42711309G>CCA359696001GHRc.721G>C (p.Gly241Arg)
c.655G>C (p.Gly219Arg)
c.*333G>C (n.*333G>C)
c.742G>C (p.Gly248Arg)
c.676G>C (p.Gly226Arg)
 dbSNP
5g.42711309G=CA1542304887GHRc.721G= (p.Gly241=)
c.655G= (p.Gly219=)
c.*333G= (n.*333G=)
c.742G= (p.Gly248=)
c.676G= (p.Gly226=)
5g.42711309G>TCA359696002GHRc.721G>T (p.Gly241Cys)
c.655G>T (p.Gly219Cys)
c.*333G>T (n.*333G>T)
c.742G>T (p.Gly248Cys)
c.676G>T (p.Gly226Cys)
5g.42711310G>ACA359696003GHRc.722G>A (p.Gly241Asp)
c.656G>A (p.Gly219Asp)
c.*334G>A (n.*334G>A)
c.743G>A (p.Gly248Asp)
c.677G>A (p.Gly226Asp)
5g.42711310G>CCA359696004GHRc.722G>C (p.Gly241Ala)
c.656G>C (p.Gly219Ala)
c.*334G>C (n.*334G>C)
c.743G>C (p.Gly248Ala)
c.677G>C (p.Gly226Ala)
5g.42711310G>TCA359696005GHRc.722G>T (p.Gly241Val)
c.656G>T (p.Gly219Val)
c.*334G>T (n.*334G>T)
c.743G>T (p.Gly248Val)
c.677G>T (p.Gly226Val)
 gnomAD v4
5g.42711311C>ACA443847931GHRc.723C>A (p.Gly241=)
c.657C>A (p.Gly219=)
c.*335C>A (n.*335C>A)
c.744C>A (p.Gly248=)
c.678C>A (p.Gly226=)
 ClinVar dbSNP gnomAD v4
5g.42711311C=CA1542304892GHRc.723C= (p.Gly241=)
c.657C= (p.Gly219=)
c.*335C= (n.*335C=)
c.744C= (p.Gly248=)
c.678C= (p.Gly226=)
5g.42711311C>GCA443847933GHRc.723C>G (p.Gly241=)
c.657C>G (p.Gly219=)
c.*335C>G (n.*335C>G)
c.744C>G (p.Gly248=)
c.678C>G (p.Gly226=)
5g.42711311C>TCA443847935GHRc.723C>T (p.Gly241=)
c.657C>T (p.Gly219=)
c.*335C>T (n.*335C>T)
c.744C>T (p.Gly248=)
c.678C>T (p.Gly226=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.42711312G>ACA3254478GHRc.724G>A (p.Glu242Lys)
c.658G>A (p.Glu220Lys)
c.*336G>A (n.*336G>A)
c.745G>A (p.Glu249Lys)
c.679G>A (p.Glu227Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711312G>CCA359696006GHRc.724G>C (p.Glu242Gln)
c.658G>C (p.Glu220Gln)
c.*336G>C (n.*336G>C)
c.745G>C (p.Glu249Gln)
c.679G>C (p.Glu227Gln)
5g.42711312G=CA1542304897GHRc.724G= (p.Glu242=)
c.658G= (p.Glu220=)
c.*336G= (n.*336G=)
c.745G= (p.Glu249=)
c.679G= (p.Glu227=)
5g.42711312G>TCA119805GHRc.724G>T (p.Glu242Ter)
c.658G>T (p.Glu220Ter)
c.*336G>T (n.*336G>T)
c.745G>T (p.Glu249Ter)
c.679G>T (p.Glu227Ter)
 ClinVar dbSNP
5g.42711313A>CCA359696007GHRc.725A>C (p.Glu242Ala)
c.659A>C (p.Glu220Ala)
c.*337A>C (n.*337A>C)
c.746A>C (p.Glu249Ala)
c.680A>C (p.Glu227Ala)
5g.42711313A>GCA359696009GHRc.725A>G (p.Glu242Gly)
c.659A>G (p.Glu220Gly)
c.*337A>G (n.*337A>G)
c.746A>G (p.Glu249Gly)
c.680A>G (p.Glu227Gly)
5g.42711313A>TCA359696008GHRc.725A>T (p.Glu242Val)
c.659A>T (p.Glu220Val)
c.*337A>T (n.*337A>T)
c.746A>T (p.Glu249Val)
c.680A>T (p.Glu227Val)
5g.42711314G>ACA443847944GHRc.726G>A (p.Glu242=)
c.660G>A (p.Glu220=)
c.*338G>A (n.*338G>A)
c.747G>A (p.Glu249=)
c.681G>A (p.Glu227=)
 ClinVar
5g.42711314G>CCA119800GHRc.726G>C (p.Glu242Asp)
c.660G>C (p.Glu220Asp)
c.*338G>C (n.*338G>C)
c.747G>C (p.Glu249Asp)
c.681G>C (p.Glu227Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711314G=CA1542304912GHRc.726G= (p.Glu242=)
c.660G= (p.Glu220=)
c.*338G= (n.*338G=)
c.747G= (p.Glu249=)
c.681G= (p.Glu227=)
5g.42711314G>TCA359696010GHRc.726G>T (p.Glu242Asp)
c.660G>T (p.Glu220Asp)
c.*338G>T (n.*338G>T)
c.747G>T (p.Glu249Asp)
c.681G>T (p.Glu227Asp)
5g.42711315T>ACA359696011GHRc.727T>A (p.Phe243Ile)
c.661T>A (p.Phe221Ile)
c.*339T>A (n.*339T>A)
c.748T>A (p.Phe250Ile)
c.682T>A (p.Phe228Ile)
5g.42711315T>CCA359696012GHRc.727T>C (p.Phe243Leu)
c.661T>C (p.Phe221Leu)
c.*339T>C (n.*339T>C)
c.748T>C (p.Phe250Leu)
c.682T>C (p.Phe228Leu)
5g.42711315T>GCA359696013GHRc.727T>G (p.Phe243Val)
c.661T>G (p.Phe221Val)
c.*339T>G (n.*339T>G)
c.748T>G (p.Phe250Val)
c.682T>G (p.Phe228Val)
5g.42711316T>ACA359696014GHRc.728T>A (p.Phe243Tyr)
c.662T>A (p.Phe221Tyr)
c.*340T>A (n.*340T>A)
c.749T>A (p.Phe250Tyr)
c.683T>A (p.Phe228Tyr)
5g.42711316T>CCA359696015GHRc.728T>C (p.Phe243Ser)
c.662T>C (p.Phe221Ser)
c.*340T>C (n.*340T>C)
c.749T>C (p.Phe250Ser)
c.683T>C (p.Phe228Ser)
5g.42711316T>GCA359696016GHRc.728T>G (p.Phe243Cys)
c.662T>G (p.Phe221Cys)
c.*340T>G (n.*340T>G)
c.749T>G (p.Phe250Cys)
c.683T>G (p.Phe228Cys)
5g.42711317C>ACA359696017GHRc.729C>A (p.Phe243Leu)
c.663C>A (p.Phe221Leu)
c.*341C>A (n.*341C>A)
c.750C>A (p.Phe250Leu)
c.684C>A (p.Phe228Leu)
5g.42711317C>GCA359696018GHRc.729C>G (p.Phe243Leu)
c.663C>G (p.Phe221Leu)
c.*341C>G (n.*341C>G)
c.750C>G (p.Phe250Leu)
c.684C>G (p.Phe228Leu)
5g.42711317C>TCA443847953GHRc.729C>T (p.Phe243=)
c.663C>T (p.Phe221=)
c.*341C>T (n.*341C>T)
c.750C>T (p.Phe250=)
c.684C>T (p.Phe228=)
5g.42711318A>CCA359696020GHRc.730A>C (p.Ser244Arg)
c.664A>C (p.Ser222Arg)
c.*342A>C (n.*342A>C)
c.751A>C (p.Ser251Arg)
c.685A>C (p.Ser229Arg)
5g.42711318A>GCA359696021GHRc.730A>G (p.Ser244Gly)
c.664A>G (p.Ser222Gly)
c.*342A>G (n.*342A>G)
c.751A>G (p.Ser251Gly)
c.685A>G (p.Ser229Gly)
5g.42711318A>TCA359696019GHRc.730A>T (p.Ser244Cys)
c.664A>T (p.Ser222Cys)
c.*342A>T (n.*342A>T)
c.751A>T (p.Ser251Cys)
c.685A>T (p.Ser229Cys)
5g.42711319G>ACA359696022GHRc.731G>A (p.Ser244Asn)
c.665G>A (p.Ser222Asn)
c.*343G>A (n.*343G>A)
c.752G>A (p.Ser251Asn)
c.686G>A (p.Ser229Asn)
 gnomAD v4
5g.42711319G>CCA359696023GHRc.731G>C (p.Ser244Thr)
c.665G>C (p.Ser222Thr)
c.*343G>C (n.*343G>C)
c.752G>C (p.Ser251Thr)
c.686G>C (p.Ser229Thr)
5g.42711319G=CA1542304915GHRc.731G= (p.Ser244=)
c.665G= (p.Ser222=)
c.*343G= (n.*343G=)
c.752G= (p.Ser251=)
c.686G= (p.Ser229=)
5g.42711319G>TCA359696024GHRc.731G>T (p.Ser244Ile)
c.665G>T (p.Ser222Ile)
c.*343G>T (n.*343G>T)
c.752G>T (p.Ser251Ile)
c.686G>T (p.Ser229Ile)
 dbSNP
5g.42711320T>ACA359696025GHRc.732T>A (p.Ser244Arg)
c.666T>A (p.Ser222Arg)
c.*344T>A (n.*344T>A)
c.753T>A (p.Ser251Arg)
c.687T>A (p.Ser229Arg)
5g.42711320T>CCA443847964GHRc.732T>C (p.Ser244=)
c.666T>C (p.Ser222=)
c.*344T>C (n.*344T>C)
c.753T>C (p.Ser251=)
c.687T>C (p.Ser229=)
5g.42711320T>GCA359696026GHRc.732T>G (p.Ser244Arg)
c.666T>G (p.Ser222Arg)
c.*344T>G (n.*344T>G)
c.753T>G (p.Ser251Arg)
c.687T>G (p.Ser229Arg)
5g.42711321G>ACA3254479GHRc.733G>A (p.Glu245Lys)
c.667G>A (p.Glu223Lys)
c.*345G>A (n.*345G>A)
c.754G>A (p.Glu252Lys)
c.688G>A (p.Glu230Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711321G>CCA359696027GHRc.733G>C (p.Glu245Gln)
c.667G>C (p.Glu223Gln)
c.*345G>C (n.*345G>C)
c.754G>C (p.Glu252Gln)
c.688G>C (p.Glu230Gln)
5g.42711321G=CA1542304921GHRc.733G= (p.Glu245=)
c.667G= (p.Glu223=)
c.*345G= (n.*345G=)
c.754G= (p.Glu252=)
c.688G= (p.Glu230=)
5g.42711321G>TCA359696028GHRc.733G>T (p.Glu245Ter)
c.667G>T (p.Glu223Ter)
c.*345G>T (n.*345G>T)
c.754G>T (p.Glu252Ter)
c.688G>T (p.Glu230Ter)
5g.42711322A>CCA359696029GHRc.734A>C (p.Glu245Ala)
c.668A>C (p.Glu223Ala)
c.*346A>C (n.*346A>C)
c.755A>C (p.Glu252Ala)
c.689A>C (p.Glu230Ala)
5g.42711322A>GCA359696030GHRc.734A>G (p.Glu245Gly)
c.668A>G (p.Glu223Gly)
c.*346A>G (n.*346A>G)
c.755A>G (p.Glu252Gly)
c.689A>G (p.Glu230Gly)
5g.42711322A>TCA359696031GHRc.734A>T (p.Glu245Val)
c.668A>T (p.Glu223Val)
c.*346A>T (n.*346A>T)
c.755A>T (p.Glu252Val)
c.689A>T (p.Glu230Val)
5g.42711323G>ACA443847973GHRc.735G>A (p.Glu245=)
c.669G>A (p.Glu223=)
c.*347G>A (n.*347G>A)
c.756G>A (p.Glu252=)
c.690G>A (p.Glu230=)
5g.42711323G>CCA359696032GHRc.735G>C (p.Glu245Asp)
c.669G>C (p.Glu223Asp)
c.*347G>C (n.*347G>C)
c.756G>C (p.Glu252Asp)
c.690G>C (p.Glu230Asp)
 dbSNP gnomAD v2 gnomAD v4
5g.42711323G=CA1542304925GHRc.735G= (p.Glu245=)
c.669G= (p.Glu223=)
c.*347G= (n.*347G=)
c.756G= (p.Glu252=)
c.690G= (p.Glu230=)
5g.42711323G>TCA359696033GHRc.735G>T (p.Glu245Asp)
c.669G>T (p.Glu223Asp)
c.*347G>T (n.*347G>T)
c.756G>T (p.Glu252Asp)
c.690G>T (p.Glu230Asp)
5g.42711324G>ACA359696036GHRc.736G>A (p.Val246Met)
c.670G>A (p.Val224Met)
c.*348G>A (n.*348G>A)
c.757G>A (p.Val253Met)
c.691G>A (p.Val231Met)
 ClinVar dbSNP gnomAD v4
5g.42711324G>CCA359696035GHRc.736G>C (p.Val246Leu)
c.670G>C (p.Val224Leu)
c.*348G>C (n.*348G>C)
c.757G>C (p.Val253Leu)
c.691G>C (p.Val231Leu)
5g.42711324G=CA1542304929GHRc.736G= (p.Val246=)
c.670G= (p.Val224=)
c.*348G= (n.*348G=)
c.757G= (p.Val253=)
c.691G= (p.Val231=)
5g.42711324G>TCA359696034GHRc.736G>T (p.Val246Leu)
c.670G>T (p.Val224Leu)
c.*348G>T (n.*348G>T)
c.757G>T (p.Val253Leu)
c.691G>T (p.Val231Leu)
5g.42711325T>ACA359696037GHRc.737T>A (p.Val246Glu)
c.671T>A (p.Val224Glu)
c.*349T>A (n.*349T>A)
c.758T>A (p.Val253Glu)
c.692T>A (p.Val231Glu)
5g.42711325T>CCA359696038GHRc.737T>C (p.Val246Ala)
c.671T>C (p.Val224Ala)
c.*349T>C (n.*349T>C)
c.758T>C (p.Val253Ala)
c.692T>C (p.Val231Ala)
5g.42711325T>GCA359696039GHRc.737T>G (p.Val246Gly)
c.671T>G (p.Val224Gly)
c.*349T>G (n.*349T>G)
c.758T>G (p.Val253Gly)
c.692T>G (p.Val231Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.42711325T=CA1542304932GHRc.737T= (p.Val246=)
c.671T= (p.Val224=)
c.*349T= (n.*349T=)
c.758T= (p.Val253=)
c.692T= (p.Val231=)
5g.42711326G>ACA443847981GHRc.738G>A (p.Val246=)
c.672G>A (p.Val224=)
c.*350G>A (n.*350G>A)
c.759G>A (p.Val253=)
c.693G>A (p.Val231=)
5g.42711326G>CCA443847983GHRc.738G>C (p.Val246=)
c.672G>C (p.Val224=)
c.*350G>C (n.*350G>C)
c.759G>C (p.Val253=)
c.693G>C (p.Val231=)
5g.42711326G=CA1542304936GHRc.738G= (p.Val246=)
c.672G= (p.Val224=)
c.*350G= (n.*350G=)
c.759G= (p.Val253=)
c.693G= (p.Val231=)
5g.42711326G>TCA3254480GHRc.738G>T (p.Val246=)
c.672G>T (p.Val224=)
c.*350G>T (n.*350G>T)
c.759G>T (p.Val253=)
c.693G>T (p.Val231=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711326_42711383delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAATCA1542304938GHRc.738_784+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT
c.672_718+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT
c.*350_*396+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT
c.759_805+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT
c.693_739+11delinsGCTCTATGTAACACTTCCTCAGATGAGCCAATTTACATGTGAAGAAGGTAAAAGAAAT
5g.42711327C>ACA359696040GHRc.739C>A (p.Leu247Ile)
c.673C>A (p.Leu225Ile)
c.*351C>A (n.*351C>A)
c.760C>A (p.Leu254Ile)
c.694C>A (p.Leu232Ile)
5g.42711327C>GCA359696041GHRc.739C>G (p.Leu247Val)
c.673C>G (p.Leu225Val)
c.*351C>G (n.*351C>G)
c.760C>G (p.Leu254Val)
c.694C>G (p.Leu232Val)
 gnomAD v4
5g.42711327C>TCA359696042GHRc.739C>T (p.Leu247Phe)
c.673C>T (p.Leu225Phe)
c.*351C>T (n.*351C>T)
c.760C>T (p.Leu254Phe)
c.694C>T (p.Leu232Phe)
 ClinVar
5g.42711327_42711383delCA559293443GHRc.739_784+11del
c.673_718+11del
c.*351_*396+11del
c.760_805+11del
c.694_739+11del
 dbSNP gnomAD v2 gnomAD v4
5g.42711328T>ACA359696043GHRc.740T>A (p.Leu247His)
c.674T>A (p.Leu225His)
c.*352T>A (n.*352T>A)
c.761T>A (p.Leu254His)
c.695T>A (p.Leu232His)
5g.42711328T>CCA359696044GHRc.740T>C (p.Leu247Pro)
c.674T>C (p.Leu225Pro)
c.*352T>C (n.*352T>C)
c.761T>C (p.Leu254Pro)
c.695T>C (p.Leu232Pro)
 gnomAD v4
5g.42711328T>GCA359696045GHRc.740T>G (p.Leu247Arg)
c.674T>G (p.Leu225Arg)
c.*352T>G (n.*352T>G)
c.761T>G (p.Leu254Arg)
c.695T>G (p.Leu232Arg)
5g.42711329C>ACA443847995GHRc.741C>A (p.Leu247=)
c.675C>A (p.Leu225=)
c.*353C>A (n.*353C>A)
c.762C>A (p.Leu254=)
c.696C>A (p.Leu232=)
5g.42711329C=CA1542304944GHRc.741C= (p.Leu247=)
c.675C= (p.Leu225=)
c.*353C= (n.*353C=)
c.762C= (p.Leu254=)
c.696C= (p.Leu232=)
5g.42711329C>GCA443847993GHRc.741C>G (p.Leu247=)
c.675C>G (p.Leu225=)
c.*353C>G (n.*353C>G)
c.762C>G (p.Leu254=)
c.696C>G (p.Leu232=)
 gnomAD v4
5g.42711329C>TCA3254481GHRc.741C>T (p.Leu247=)
c.675C>T (p.Leu225=)
c.*353C>T (n.*353C>T)
c.762C>T (p.Leu254=)
c.696C>T (p.Leu232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711330T>ACA359696046GHRc.742T>A (p.Tyr248Asn)
c.676T>A (p.Tyr226Asn)
c.*354T>A (n.*354T>A)
c.763T>A (p.Tyr255Asn)
c.697T>A (p.Tyr233Asn)
5g.42711330T>CCA3254482GHRc.742T>C (p.Tyr248His)
c.676T>C (p.Tyr226His)
c.*354T>C (n.*354T>C)
c.763T>C (p.Tyr255His)
c.697T>C (p.Tyr233His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711330T>GCA359696047GHRc.742T>G (p.Tyr248Asp)
c.676T>G (p.Tyr226Asp)
c.*354T>G (n.*354T>G)
c.763T>G (p.Tyr255Asp)
c.697T>G (p.Tyr233Asp)
5g.42711330T=CA1542304947GHRc.742T= (p.Tyr248=)
c.676T= (p.Tyr226=)
c.*354T= (n.*354T=)
c.763T= (p.Tyr255=)
c.697T= (p.Tyr233=)
5g.42711331_42711332delCA2580073296GHRc.743_744del (p.Tyr248CysfsTer12)
c.677_678del (p.Tyr226CysfsTer12)
c.*355_*356del (n.*355_*356del)
c.764_765del (p.Tyr255CysfsTer12)
c.698_699del (p.Tyr233CysfsTer12)
 ClinVar
5g.42711331A=CA1542304954GHRc.743A= (p.Tyr248=)
c.677A= (p.Tyr226=)
c.*355A= (n.*355A=)
c.764A= (p.Tyr255=)
c.698A= (p.Tyr233=)
5g.42711331A>CCA359696049GHRc.743A>C (p.Tyr248Ser)
c.677A>C (p.Tyr226Ser)
c.*355A>C (n.*355A>C)
c.764A>C (p.Tyr255Ser)
c.698A>C (p.Tyr233Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.42711331A>GCA3254483GHRc.743A>G (p.Tyr248Cys)
c.677A>G (p.Tyr226Cys)
c.*355A>G (n.*355A>G)
c.764A>G (p.Tyr255Cys)
c.698A>G (p.Tyr233Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711331A>TCA359696048GHRc.743A>T (p.Tyr248Phe)
c.677A>T (p.Tyr226Phe)
c.*355A>T (n.*355A>T)
c.764A>T (p.Tyr255Phe)
c.698A>T (p.Tyr233Phe)
 gnomAD v4 COSMIC
5g.42711332delCA2695204471GHRc.744del (p.Tyr248Ter)
c.678del (p.Tyr226Ter)
c.*356del (n.*356del)
c.765del (p.Tyr255Ter)
c.699del (p.Tyr233Ter)
 ClinVar
5g.42711332T>ACA359696050GHRc.744T>A (p.Tyr248Ter)
c.678T>A (p.Tyr226Ter)
c.*356T>A (n.*356T>A)
c.765T>A (p.Tyr255Ter)
c.699T>A (p.Tyr233Ter)
5g.42711332T>CCA3254484GHRc.744T>C (p.Tyr248=)
c.678T>C (p.Tyr226=)
c.*356T>C (n.*356T>C)
c.765T>C (p.Tyr255=)
c.699T>C (p.Tyr233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711332T>GCA359696051GHRc.744T>G (p.Tyr248Ter)
c.678T>G (p.Tyr226Ter)
c.*356T>G (n.*356T>G)
c.765T>G (p.Tyr255Ter)
c.699T>G (p.Tyr233Ter)
 dbSNP
5g.42711332T=CA1542304960GHRc.744T= (p.Tyr248=)
c.678T= (p.Tyr226=)
c.*356T= (n.*356T=)
c.765T= (p.Tyr255=)
c.699T= (p.Tyr233=)
5g.42711333G>ACA359696052GHRc.745G>A (p.Val249Ile)
c.679G>A (p.Val227Ile)
c.*357G>A (n.*357G>A)
c.766G>A (p.Val256Ile)
c.700G>A (p.Val234Ile)
 gnomAD v4
5g.42711333G>CCA359696053GHRc.745G>C (p.Val249Leu)
c.679G>C (p.Val227Leu)
c.*357G>C (n.*357G>C)
c.766G>C (p.Val256Leu)
c.700G>C (p.Val234Leu)
 gnomAD v4
5g.42711333G>TCA359696054GHRc.745G>T (p.Val249Leu)
c.679G>T (p.Val227Leu)
c.*357G>T (n.*357G>T)
c.766G>T (p.Val256Leu)
c.700G>T (p.Val234Leu)
5g.42711334T>ACA359696055GHRc.746T>A (p.Val249Glu)
c.680T>A (p.Val227Glu)
c.*358T>A (n.*358T>A)
c.767T>A (p.Val256Glu)
c.701T>A (p.Val234Glu)
 gnomAD v4
5g.42711334T>CCA359696056GHRc.746T>C (p.Val249Ala)
c.680T>C (p.Val227Ala)
c.*358T>C (n.*358T>C)
c.767T>C (p.Val256Ala)
c.701T>C (p.Val234Ala)
 ClinVar gnomAD v4
5g.42711334T>GCA359696057GHRc.746T>G (p.Val249Gly)
c.680T>G (p.Val227Gly)
c.*358T>G (n.*358T>G)
c.767T>G (p.Val256Gly)
c.701T>G (p.Val234Gly)
5g.42711335A>CCA443848014GHRc.747A>C (p.Val249=)
c.681A>C (p.Val227=)
c.*359A>C (n.*359A>C)
c.768A>C (p.Val256=)
c.702A>C (p.Val234=)
5g.42711335A>GCA443848015GHRc.747A>G (p.Val249=)
c.681A>G (p.Val227=)
c.*359A>G (n.*359A>G)
c.768A>G (p.Val256=)
c.702A>G (p.Val234=)
5g.42711335A>TCA443848016GHRc.747A>T (p.Val249=)
c.681A>T (p.Val227=)
c.*359A>T (n.*359A>T)
c.768A>T (p.Val256=)
c.702A>T (p.Val234=)
5g.42711336A=CA1542304964GHRc.748A= (p.Thr250=)
c.682A= (p.Thr228=)
c.*360A= (n.*360A=)
c.769A= (p.Thr257=)
c.703A= (p.Thr235=)
5g.42711336A>CCA359696058GHRc.748A>C (p.Thr250Pro)
c.682A>C (p.Thr228Pro)
c.*360A>C (n.*360A>C)
c.769A>C (p.Thr257Pro)
c.703A>C (p.Thr235Pro)
5g.42711336A>GCA359696059GHRc.748A>G (p.Thr250Ala)
c.682A>G (p.Thr228Ala)
c.*360A>G (n.*360A>G)
c.769A>G (p.Thr257Ala)
c.703A>G (p.Thr235Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.42711336A>TCA359696060GHRc.748A>T (p.Thr250Ser)
c.682A>T (p.Thr228Ser)
c.*360A>T (n.*360A>T)
c.769A>T (p.Thr257Ser)
c.703A>T (p.Thr235Ser)
5g.42711337C>ACA359696061GHRc.749C>A (p.Thr250Lys)
c.683C>A (p.Thr228Lys)
c.*361C>A (n.*361C>A)
c.770C>A (p.Thr257Lys)
c.704C>A (p.Thr235Lys)
5g.42711337C>GCA359696062GHRc.749C>G (p.Thr250Arg)
c.683C>G (p.Thr228Arg)
c.*361C>G (n.*361C>G)
c.770C>G (p.Thr257Arg)
c.704C>G (p.Thr235Arg)
5g.42711337C>TCA359696063GHRc.749C>T (p.Thr250Ile)
c.683C>T (p.Thr228Ile)
c.*361C>T (n.*361C>T)
c.770C>T (p.Thr257Ile)
c.704C>T (p.Thr235Ile)
 gnomAD v4
5g.42711338A>CCA443848025GHRc.750A>C (p.Thr250=)
c.684A>C (p.Thr228=)
c.*362A>C (n.*362A>C)
c.771A>C (p.Thr257=)
c.705A>C (p.Thr235=)
5g.42711338A>GCA443848027GHRc.750A>G (p.Thr250=)
c.684A>G (p.Thr228=)
c.*362A>G (n.*362A>G)
c.771A>G (p.Thr257=)
c.705A>G (p.Thr235=)
5g.42711338A>TCA443848028GHRc.750A>T (p.Thr250=)
c.684A>T (p.Thr228=)
c.*362A>T (n.*362A>T)
c.771A>T (p.Thr257=)
c.705A>T (p.Thr235=)
5g.42711339C>ACA359696066GHRc.751C>A (p.Leu251Ile)
c.685C>A (p.Leu229Ile)
c.*363C>A (n.*363C>A)
c.772C>A (p.Leu258Ile)
c.706C>A (p.Leu236Ile)
5g.42711339C>GCA359696065GHRc.751C>G (p.Leu251Val)
c.685C>G (p.Leu229Val)
c.*363C>G (n.*363C>G)
c.772C>G (p.Leu258Val)
c.706C>G (p.Leu236Val)
5g.42711339C>TCA359696064GHRc.751C>T (p.Leu251Phe)
c.685C>T (p.Leu229Phe)
c.*363C>T (n.*363C>T)
c.772C>T (p.Leu258Phe)
c.706C>T (p.Leu236Phe)
5g.42711340T>ACA359696067GHRc.752T>A (p.Leu251His)
c.686T>A (p.Leu229His)
c.*364T>A (n.*364T>A)
c.773T>A (p.Leu258His)
c.707T>A (p.Leu236His)
5g.42711340T>CCA359696068GHRc.752T>C (p.Leu251Pro)
c.686T>C (p.Leu229Pro)
c.*364T>C (n.*364T>C)
c.773T>C (p.Leu258Pro)
c.707T>C (p.Leu236Pro)
5g.42711340T>GCA359696069GHRc.752T>G (p.Leu251Arg)
c.686T>G (p.Leu229Arg)
c.*364T>G (n.*364T>G)
c.773T>G (p.Leu258Arg)
c.707T>G (p.Leu236Arg)

Number of alleles fetched