Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.137206193C>ACA365775707IFNGR1c.286G>T (p.Val96Phe)
c.214G>T (p.Val72Phe)
c.193G>T (p.Val65Phe)
c.316G>T (p.Val106Phe)
c.*215G>T (n.*215G>T)
c.262G>T (p.Val88Phe)
c.232G>T (p.Val78Phe)
c.259G>T (p.Val87Phe)
c.436G>T (n.436G>T)
c.425G>T
6g.137206193C>GCA365775708IFNGR1c.286G>C (p.Val96Leu)
c.214G>C (p.Val72Leu)
c.193G>C (p.Val65Leu)
c.316G>C (p.Val106Leu)
c.*215G>C (n.*215G>C)
c.262G>C (p.Val88Leu)
c.232G>C (p.Val78Leu)
c.259G>C (p.Val87Leu)
c.436G>C (n.436G>C)
c.425G>C
6g.137206193C>TCA365775709IFNGR1c.286G>A (p.Val96Ile)
c.214G>A (p.Val72Ile)
c.193G>A (p.Val65Ile)
c.316G>A (p.Val106Ile)
c.*215G>A (n.*215G>A)
c.262G>A (p.Val88Ile)
c.232G>A (p.Val78Ile)
c.259G>A (p.Val87Ile)
c.436G>A (n.436G>A)
c.425G>A
dbSNP
6g.137206194C>ACA365775710IFNGR1c.285G>T (p.Arg95Ser)
c.213G>T (p.Arg71Ser)
c.192G>T (p.Arg64Ser)
c.315G>T (p.Arg105Ser)
c.*214G>T (n.*214G>T)
c.261G>T (p.Arg87Ser)
c.231G>T (p.Arg77Ser)
c.258G>T (p.Arg86Ser)
c.435G>T (n.435G>T)
c.424G>T
dbSNP
6g.137206194C=CA1666386033IFNGR1c.285G= (p.Arg95=)
c.213G= (p.Arg71=)
c.192G= (p.Arg64=)
c.315G= (p.Arg105=)
c.*214G= (n.*214G=)
c.261G= (p.Arg87=)
c.231G= (p.Arg77=)
c.258G= (p.Arg86=)
c.435G= (n.435G=)
c.424G=
6g.137206194C>GCA365775711IFNGR1c.285G>C (p.Arg95Ser)
c.213G>C (p.Arg71Ser)
c.192G>C (p.Arg64Ser)
c.315G>C (p.Arg105Ser)
c.*214G>C (n.*214G>C)
c.261G>C (p.Arg87Ser)
c.231G>C (p.Arg77Ser)
c.258G>C (p.Arg86Ser)
c.435G>C (n.435G>C)
c.424G>C
dbSNP gnomAD v2 gnomAD v4
6g.137206194C>TCA452236912IFNGR1c.285G>A (p.Arg95=)
c.213G>A (p.Arg71=)
c.192G>A (p.Arg64=)
c.315G>A (p.Arg105=)
c.*214G>A (n.*214G>A)
c.261G>A (p.Arg87=)
c.231G>A (p.Arg77=)
c.258G>A (p.Arg86=)
c.435G>A (n.435G>A)
c.424G>A
dbSNP gnomAD v2 gnomAD v4
6g.137206195C>ACA365775712IFNGR1c.284G>T (p.Arg95Met)
c.212G>T (p.Arg71Met)
c.191G>T (p.Arg64Met)
c.314G>T (p.Arg105Met)
c.*213G>T (n.*213G>T)
c.260G>T (p.Arg87Met)
c.230G>T (p.Arg77Met)
c.257G>T (p.Arg86Met)
c.434G>T (n.434G>T)
c.423G>T
6g.137206195C>GCA365775714IFNGR1c.284G>C (p.Arg95Thr)
c.212G>C (p.Arg71Thr)
c.191G>C (p.Arg64Thr)
c.314G>C (p.Arg105Thr)
c.*213G>C (n.*213G>C)
c.260G>C (p.Arg87Thr)
c.230G>C (p.Arg77Thr)
c.257G>C (p.Arg86Thr)
c.434G>C (n.434G>C)
c.423G>C
6g.137206195C>TCA365775713IFNGR1c.284G>A (p.Arg95Lys)
c.212G>A (p.Arg71Lys)
c.191G>A (p.Arg64Lys)
c.314G>A (p.Arg105Lys)
c.*213G>A (n.*213G>A)
c.260G>A (p.Arg87Lys)
c.230G>A (p.Arg77Lys)
c.257G>A (p.Arg86Lys)
c.434G>A (n.434G>A)
c.423G>A
6g.137206196T>ACA365775715IFNGR1c.283A>T (p.Arg95Trp)
c.211A>T (p.Arg71Trp)
c.190A>T (p.Arg64Trp)
c.313A>T (p.Arg105Trp)
c.*212A>T (n.*212A>T)
c.259A>T (p.Arg87Trp)
c.229A>T (p.Arg77Trp)
c.256A>T (p.Arg86Trp)
c.433A>T (n.433A>T)
c.422A>T
6g.137206196T>CCA365775716IFNGR1c.283A>G (p.Arg95Gly)
c.211A>G (p.Arg71Gly)
c.190A>G (p.Arg64Gly)
c.313A>G (p.Arg105Gly)
c.*212A>G (n.*212A>G)
c.259A>G (p.Arg87Gly)
c.229A>G (p.Arg77Gly)
c.256A>G (p.Arg86Gly)
c.433A>G (n.433A>G)
c.422A>G
6g.137206196T>GCA452236913IFNGR1c.283A>C (p.Arg95=)
c.211A>C (p.Arg71=)
c.190A>C (p.Arg64=)
c.313A>C (p.Arg105=)
c.*212A>C (n.*212A>C)
c.259A>C (p.Arg87=)
c.229A>C (p.Arg77=)
c.256A>C (p.Arg86=)
c.433A>C (n.433A>C)
c.422A>C
6g.137206197G>ACA452236914IFNGR1c.282C>T (p.Ala94=)
c.210C>T (p.Ala70=)
c.189C>T (p.Ala63=)
c.312C>T (p.Ala104=)
c.*211C>T (n.*211C>T)
c.258C>T (p.Ala86=)
c.228C>T (p.Ala76=)
c.255C>T (p.Ala85=)
c.432C>T (n.432C>T)
c.421C>T
6g.137206197G>CCA452236916IFNGR1c.282C>G (p.Ala94=)
c.210C>G (p.Ala70=)
c.189C>G (p.Ala63=)
c.312C>G (p.Ala104=)
c.*211C>G (n.*211C>G)
c.258C>G (p.Ala86=)
c.228C>G (p.Ala76=)
c.255C>G (p.Ala85=)
c.432C>G (n.432C>G)
c.421C>G
6g.137206197G>TCA452236915IFNGR1c.282C>A (p.Ala94=)
c.210C>A (p.Ala70=)
c.189C>A (p.Ala63=)
c.312C>A (p.Ala104=)
c.*211C>A (n.*211C>A)
c.258C>A (p.Ala86=)
c.228C>A (p.Ala76=)
c.255C>A (p.Ala85=)
c.432C>A (n.432C>A)
c.421C>A
6g.137206198G>ACA365775717IFNGR1c.281C>T (p.Ala94Val)
c.209C>T (p.Ala70Val)
c.188C>T (p.Ala63Val)
c.311C>T (p.Ala104Val)
c.*210C>T (n.*210C>T)
c.257C>T (p.Ala86Val)
c.227C>T (p.Ala76Val)
c.254C>T (p.Ala85Val)
c.431C>T (n.431C>T)
c.420C>T
6g.137206198G>CCA365775718IFNGR1c.281C>G (p.Ala94Gly)
c.209C>G (p.Ala70Gly)
c.188C>G (p.Ala63Gly)
c.311C>G (p.Ala104Gly)
c.*210C>G (n.*210C>G)
c.257C>G (p.Ala86Gly)
c.227C>G (p.Ala76Gly)
c.254C>G (p.Ala85Gly)
c.431C>G (n.431C>G)
c.420C>G
dbSNP
6g.137206198G>TCA365775719IFNGR1c.281C>A (p.Ala94Asp)
c.209C>A (p.Ala70Asp)
c.188C>A (p.Ala63Asp)
c.311C>A (p.Ala104Asp)
c.*210C>A (n.*210C>A)
c.257C>A (p.Ala86Asp)
c.227C>A (p.Ala76Asp)
c.254C>A (p.Ala85Asp)
c.431C>A (n.431C>A)
c.420C>A
dbSNP
6g.137206199C>ACA365775720IFNGR1c.280G>T (p.Ala94Ser)
c.208G>T (p.Ala70Ser)
c.187G>T (p.Ala63Ser)
c.310G>T (p.Ala104Ser)
c.*209G>T (n.*209G>T)
c.256G>T (p.Ala86Ser)
c.226G>T (p.Ala76Ser)
c.253G>T (p.Ala85Ser)
c.430G>T (n.430G>T)
c.419G>T
6g.137206199C>GCA365775721IFNGR1c.280G>C (p.Ala94Pro)
c.208G>C (p.Ala70Pro)
c.187G>C (p.Ala63Pro)
c.310G>C (p.Ala104Pro)
c.*209G>C (n.*209G>C)
c.256G>C (p.Ala86Pro)
c.226G>C (p.Ala76Pro)
c.253G>C (p.Ala85Pro)
c.430G>C (n.430G>C)
c.419G>C
gnomAD v4
6g.137206199C>TCA365775722IFNGR1c.280G>A (p.Ala94Thr)
c.208G>A (p.Ala70Thr)
c.187G>A (p.Ala63Thr)
c.310G>A (p.Ala104Thr)
c.*209G>A (n.*209G>A)
c.256G>A (p.Ala86Thr)
c.226G>A (p.Ala76Thr)
c.253G>A (p.Ala85Thr)
c.430G>A (n.430G>A)
c.419G>A
6g.137206200T>ACA365775723IFNGR1c.279A>T (p.Lys93Asn)
c.207A>T (p.Lys69Asn)
c.186A>T (p.Lys62Asn)
c.309A>T (p.Lys103Asn)
c.*208A>T (n.*208A>T)
c.255A>T (p.Lys85Asn)
c.225A>T (p.Lys75Asn)
c.252A>T (p.Lys84Asn)
c.429A>T (n.429A>T)
c.418A>T
6g.137206200T>CCA452236918IFNGR1c.279A>G (p.Lys93=)
c.207A>G (p.Lys69=)
c.186A>G (p.Lys62=)
c.309A>G (p.Lys103=)
c.*208A>G (n.*208A>G)
c.255A>G (p.Lys85=)
c.225A>G (p.Lys75=)
c.252A>G (p.Lys84=)
c.429A>G (n.429A>G)
c.418A>G
6g.137206200T>GCA365775724IFNGR1c.279A>C (p.Lys93Asn)
c.207A>C (p.Lys69Asn)
c.186A>C (p.Lys62Asn)
c.309A>C (p.Lys103Asn)
c.*208A>C (n.*208A>C)
c.255A>C (p.Lys85Asn)
c.225A>C (p.Lys75Asn)
c.252A>C (p.Lys84Asn)
c.429A>C (n.429A>C)
c.418A>C
6g.137206201T>ACA365775725IFNGR1c.278A>T (p.Lys93Ile)
c.206A>T (p.Lys69Ile)
c.185A>T (p.Lys62Ile)
c.308A>T (p.Lys103Ile)
c.*207A>T (n.*207A>T)
c.254A>T (p.Lys85Ile)
c.224A>T (p.Lys75Ile)
c.251A>T (p.Lys84Ile)
c.428A>T (n.428A>T)
c.417A>T
6g.137206201T>CCA365775726IFNGR1c.278A>G (p.Lys93Arg)
c.206A>G (p.Lys69Arg)
c.185A>G (p.Lys62Arg)
c.308A>G (p.Lys103Arg)
c.*207A>G (n.*207A>G)
c.254A>G (p.Lys85Arg)
c.224A>G (p.Lys75Arg)
c.251A>G (p.Lys84Arg)
c.428A>G (n.428A>G)
c.417A>G
6g.137206201T>GCA365775727IFNGR1c.278A>C (p.Lys93Thr)
c.206A>C (p.Lys69Thr)
c.185A>C (p.Lys62Thr)
c.308A>C (p.Lys103Thr)
c.*207A>C (n.*207A>C)
c.254A>C (p.Lys85Thr)
c.224A>C (p.Lys75Thr)
c.251A>C (p.Lys84Thr)
c.428A>C (n.428A>C)
c.417A>C
6g.137206202T>ACA365775730IFNGR1c.277A>T (p.Lys93Ter)
c.205A>T (p.Lys69Ter)
c.184A>T (p.Lys62Ter)
c.307A>T (p.Lys103Ter)
c.*206A>T (n.*206A>T)
c.253A>T (p.Lys85Ter)
c.223A>T (p.Lys75Ter)
c.250A>T (p.Lys84Ter)
c.427A>T (n.427A>T)
c.416A>T
6g.137206202T>CCA365775729IFNGR1c.277A>G (p.Lys93Glu)
c.205A>G (p.Lys69Glu)
c.184A>G (p.Lys62Glu)
c.307A>G (p.Lys103Glu)
c.*206A>G (n.*206A>G)
c.253A>G (p.Lys85Glu)
c.223A>G (p.Lys75Glu)
c.250A>G (p.Lys84Glu)
c.427A>G (n.427A>G)
c.416A>G
6g.137206202T>GCA365775728IFNGR1c.277A>C (p.Lys93Gln)
c.205A>C (p.Lys69Gln)
c.184A>C (p.Lys62Gln)
c.307A>C (p.Lys103Gln)
c.*206A>C (n.*206A>C)
c.253A>C (p.Lys85Gln)
c.223A>C (p.Lys75Gln)
c.250A>C (p.Lys84Gln)
c.427A>C (n.427A>C)
c.416A>C
6g.137206202_137206214delinsTAACTCTGACCCACA1666386034IFNGR1c.265_277delinsTGGGTCAGAGTTA (p.Trp89=)
c.201-8_205delinsTGGGTCAGAGTTA
c.172_184delinsTGGGTCAGAGTTA (p.Trp58=)
c.295_307delinsTGGGTCAGAGTTA (p.Trp99=)
c.*194_*206delinsTGGGTCAGAGTTA (n.*194_*206delinsTGGGTCAGAGTTA)
c.241_253delinsTGGGTCAGAGTTA (p.Trp81=)
c.211_223delinsTGGGTCAGAGTTA (p.Trp71=)
c.238_250delinsTGGGTCAGAGTTA (p.Trp80=)
c.415_427delinsTGGGTCAGAGTTA (n.415_427delinsTGGGTCAGAGTTA)
c.404_416delinsTGGGTCAGAGTTA
6g.137206203A>CCA452236920IFNGR1c.276T>G (p.Val92=)
c.204T>G (p.Val68=)
c.183T>G (p.Val61=)
c.306T>G (p.Val102=)
c.*205T>G (n.*205T>G)
c.252T>G (p.Val84=)
c.222T>G (p.Val74=)
c.249T>G (p.Val83=)
c.426T>G (n.426T>G)
c.415T>G
6g.137206203A>GCA452236921IFNGR1c.276T>C (p.Val92=)
c.204T>C (p.Val68=)
c.183T>C (p.Val61=)
c.306T>C (p.Val102=)
c.*205T>C (n.*205T>C)
c.252T>C (p.Val84=)
c.222T>C (p.Val74=)
c.249T>C (p.Val83=)
c.426T>C (n.426T>C)
c.415T>C
6g.137206203A>TCA452236922IFNGR1c.276T>A (p.Val92=)
c.204T>A (p.Val68=)
c.183T>A (p.Val61=)
c.306T>A (p.Val102=)
c.*205T>A (n.*205T>A)
c.252T>A (p.Val84=)
c.222T>A (p.Val74=)
c.249T>A (p.Val83=)
c.426T>A (n.426T>A)
c.415T>A
6g.137206205_137206216delCA127604IFNGR1c.265_276del (p.Trp89_Val92del)
c.201-8_204del
c.172_183del (p.Trp58_Val61del)
c.295_306del (p.Trp99_Val102del)
c.*194_*205del (n.*194_*205del)
c.241_252del (p.Trp81_Val84del)
c.211_222del (p.Trp71_Val74del)
c.238_249del (p.Trp80_Val83del)
c.415_426del (n.415_426del)
c.404_415del
ClinVar dbSNP
6g.137206204A>CCA365775731IFNGR1c.275T>G (p.Val92Gly)
c.203T>G (p.Val68Gly)
c.182T>G (p.Val61Gly)
c.305T>G (p.Val102Gly)
c.*204T>G (n.*204T>G)
c.251T>G (p.Val84Gly)
c.221T>G (p.Val74Gly)
c.248T>G (p.Val83Gly)
c.425T>G (n.425T>G)
c.414T>G
6g.137206204A>GCA365775732IFNGR1c.275T>C (p.Val92Ala)
c.203T>C (p.Val68Ala)
c.182T>C (p.Val61Ala)
c.305T>C (p.Val102Ala)
c.*204T>C (n.*204T>C)
c.251T>C (p.Val84Ala)
c.221T>C (p.Val74Ala)
c.248T>C (p.Val83Ala)
c.425T>C (n.425T>C)
c.414T>C
6g.137206204A>TCA365775733IFNGR1c.275T>A (p.Val92Asp)
c.203T>A (p.Val68Asp)
c.182T>A (p.Val61Asp)
c.305T>A (p.Val102Asp)
c.*204T>A (n.*204T>A)
c.251T>A (p.Val84Asp)
c.221T>A (p.Val74Asp)
c.248T>A (p.Val83Asp)
c.425T>A (n.425T>A)
c.414T>A
6g.137206205C>ACA365775734IFNGR1c.274G>T (p.Val92Phe)
c.202G>T (p.Val68Phe)
c.181G>T (p.Val61Phe)
c.304G>T (p.Val102Phe)
c.*203G>T (n.*203G>T)
c.250G>T (p.Val84Phe)
c.220G>T (p.Val74Phe)
c.247G>T (p.Val83Phe)
c.424G>T (n.424G>T)
c.413G>T
6g.137206205C>GCA365775735IFNGR1c.274G>C (p.Val92Leu)
c.202G>C (p.Val68Leu)
c.181G>C (p.Val61Leu)
c.304G>C (p.Val102Leu)
c.*203G>C (n.*203G>C)
c.250G>C (p.Val84Leu)
c.220G>C (p.Val74Leu)
c.247G>C (p.Val83Leu)
c.424G>C (n.424G>C)
c.413G>C
6g.137206205C>TCA365775736IFNGR1c.274G>A (p.Val92Ile)
c.202G>A (p.Val68Ile)
c.181G>A (p.Val61Ile)
c.304G>A (p.Val102Ile)
c.*203G>A (n.*203G>A)
c.250G>A (p.Val84Ile)
c.220G>A (p.Val74Ile)
c.247G>A (p.Val83Ile)
c.424G>A (n.424G>A)
c.413G>A
dbSNP
6g.137206206T>ACA365775737IFNGR1c.273A>T (p.Arg91Ser)
c.201A>T (p.Gly67=)
c.180A>T (p.Arg60Ser)
c.303A>T (p.Arg101Ser)
c.*202A>T (n.*202A>T)
c.249A>T (p.Arg83Ser)
c.219A>T (p.Arg73Ser)
c.246A>T (p.Arg82Ser)
c.423A>T (n.423A>T)
c.412A>T
6g.137206206T>CCA452236923IFNGR1c.273A>G (p.Arg91=)
c.201A>G (p.Gly67=)
c.180A>G (p.Arg60=)
c.303A>G (p.Arg101=)
c.*202A>G (n.*202A>G)
c.249A>G (p.Arg83=)
c.219A>G (p.Arg73=)
c.246A>G (p.Arg82=)
c.423A>G (n.423A>G)
c.412A>G
dbSNP gnomAD v3 gnomAD v4
6g.137206206T>GCA365775738IFNGR1c.273A>C (p.Arg91Ser)
c.201A>C (p.Gly67=)
c.180A>C (p.Arg60Ser)
c.303A>C (p.Arg101Ser)
c.*202A>C (n.*202A>C)
c.249A>C (p.Arg83Ser)
c.219A>C (p.Arg73Ser)
c.246A>C (p.Arg82Ser)
c.423A>C (n.423A>C)
c.412A>C
6g.137206206T=CA1666386035IFNGR1c.273A= (p.Arg91=)
c.201A= (p.Gly67=)
c.180A= (p.Arg60=)
c.303A= (p.Arg101=)
c.*202A= (n.*202A=)
c.249A= (p.Arg83=)
c.219A= (p.Arg73=)
c.246A= (p.Arg82=)
c.423A= (n.423A=)
c.412A=
6g.137206207C>ACA365775739IFNGR1c.272G>T (p.Arg91Ile)
c.201-1G>T (n.201-1G>T)
c.179G>T (p.Arg60Ile)
c.302G>T (p.Arg101Ile)
c.*201G>T (n.*201G>T)
c.248G>T (p.Arg83Ile)
c.218G>T (p.Arg73Ile)
c.245G>T (p.Arg82Ile)
c.422G>T (n.422G>T)
c.411G>T
6g.137206207C>GCA365775740IFNGR1c.272G>C (p.Arg91Thr)
c.201-1G>C (n.201-1G>C)
c.179G>C (p.Arg60Thr)
c.302G>C (p.Arg101Thr)
c.*201G>C (n.*201G>C)
c.248G>C (p.Arg83Thr)
c.218G>C (p.Arg73Thr)
c.245G>C (p.Arg82Thr)
c.422G>C (n.422G>C)
c.411G>C
gnomAD v4
6g.137206207C>TCA365775741IFNGR1c.272G>A (p.Arg91Lys)
c.201-1G>A (n.201-1G>A)
c.179G>A (p.Arg60Lys)
c.302G>A (p.Arg101Lys)
c.*201G>A (n.*201G>A)
c.248G>A (p.Arg83Lys)
c.218G>A (p.Arg73Lys)
c.245G>A (p.Arg82Lys)
c.422G>A (n.422G>A)
c.411G>A
6g.137206208T>ACA365775744IFNGR1c.271A>T (p.Arg91Ter)
c.201-2A>T (n.201-2A>T)
c.178A>T (p.Arg60Ter)
c.301A>T (p.Arg101Ter)
c.*200A>T (n.*200A>T)
c.247A>T (p.Arg83Ter)
c.217A>T (p.Arg73Ter)
c.244A>T (p.Arg82Ter)
c.421A>T (n.421A>T)
c.410A>T
6g.137206208T>CCA365775743IFNGR1c.271A>G (p.Arg91Gly)
c.201-2A>G (n.201-2A>G)
c.178A>G (p.Arg60Gly)
c.301A>G (p.Arg101Gly)
c.*200A>G (n.*200A>G)
c.247A>G (p.Arg83Gly)
c.217A>G (p.Arg73Gly)
c.244A>G (p.Arg82Gly)
c.421A>G (n.421A>G)
c.410A>G
gnomAD v4
6g.137206208T>GCA365775742IFNGR1c.271A>C (p.Arg91=)
c.201-2A>C (n.201-2A>C)
c.178A>C (p.Arg60=)
c.301A>C (p.Arg101=)
c.*200A>C (n.*200A>C)
c.247A>C (p.Arg83=)
c.217A>C (p.Arg73=)
c.244A>C (p.Arg82=)
c.421A>C (n.421A>C)
c.410A>C
6g.137206209G>ACA452236924IFNGR1c.270C>T (p.Val90=)
c.201-3C>T (n.201-3C>T)
c.177C>T (p.Val59=)
c.300C>T (p.Val100=)
c.*199C>T (n.*199C>T)
c.246C>T (p.Val82=)
c.216C>T (p.Val72=)
c.243C>T (p.Val81=)
c.420C>T (n.420C>T)
c.409C>T
6g.137206209G>CCA452236925IFNGR1c.270C>G (p.Val90=)
c.201-3C>G (n.201-3C>G)
c.177C>G (p.Val59=)
c.300C>G (p.Val100=)
c.*199C>G (n.*199C>G)
c.246C>G (p.Val82=)
c.216C>G (p.Val72=)
c.243C>G (p.Val81=)
c.420C>G (n.420C>G)
c.409C>G
dbSNP
6g.137206209G=CA1666386036IFNGR1c.270C= (p.Val90=)
c.201-3C= (n.201-3C=)
c.177C= (p.Val59=)
c.300C= (p.Val100=)
c.*199C= (n.*199C=)
c.246C= (p.Val82=)
c.216C= (p.Val72=)
c.243C= (p.Val81=)
c.420C= (n.420C=)
c.409C=
6g.137206209G>TCA452236926IFNGR1c.270C>A (p.Val90=)
c.201-3C>A (n.201-3C>A)
c.177C>A (p.Val59=)
c.300C>A (p.Val100=)
c.*199C>A (n.*199C>A)
c.246C>A (p.Val82=)
c.216C>A (p.Val72=)
c.243C>A (p.Val81=)
c.420C>A (n.420C>A)
c.409C>A
dbSNP
6g.137206210A>CCA365775747IFNGR1c.269T>G (p.Val90Gly)
c.201-4T>G (n.201-4T>G)
c.176T>G (p.Val59Gly)
c.299T>G (p.Val100Gly)
c.*198T>G (n.*198T>G)
c.245T>G (p.Val82Gly)
c.215T>G (p.Val72Gly)
c.242T>G (p.Val81Gly)
c.419T>G (n.419T>G)
c.408T>G
6g.137206210A>GCA365775745IFNGR1c.269T>C (p.Val90Ala)
c.201-4T>C (n.201-4T>C)
c.176T>C (p.Val59Ala)
c.299T>C (p.Val100Ala)
c.*198T>C (n.*198T>C)
c.245T>C (p.Val82Ala)
c.215T>C (p.Val72Ala)
c.242T>C (p.Val81Ala)
c.419T>C (n.419T>C)
c.408T>C
6g.137206210A>TCA365775746IFNGR1c.269T>A (p.Val90Asp)
c.201-4T>A (n.201-4T>A)
c.176T>A (p.Val59Asp)
c.299T>A (p.Val100Asp)
c.*198T>A (n.*198T>A)
c.245T>A (p.Val82Asp)
c.215T>A (p.Val72Asp)
c.242T>A (p.Val81Asp)
c.419T>A (n.419T>A)
c.408T>A
6g.137206211C>ACA365775748IFNGR1c.268G>T (p.Val90Phe)
c.201-5G>T (n.201-5G>T)
c.175G>T (p.Val59Phe)
c.298G>T (p.Val100Phe)
c.*197G>T (n.*197G>T)
c.244G>T (p.Val82Phe)
c.214G>T (p.Val72Phe)
c.241G>T (p.Val81Phe)
c.418G>T (n.418G>T)
c.407G>T
6g.137206211C>GCA365775749IFNGR1c.268G>C (p.Val90Leu)
c.201-5G>C (n.201-5G>C)
c.175G>C (p.Val59Leu)
c.298G>C (p.Val100Leu)
c.*197G>C (n.*197G>C)
c.244G>C (p.Val82Leu)
c.214G>C (p.Val72Leu)
c.241G>C (p.Val81Leu)
c.418G>C (n.418G>C)
c.407G>C
6g.137206211C>TCA365775750IFNGR1c.268G>A (p.Val90Ile)
c.201-5G>A (n.201-5G>A)
c.175G>A (p.Val59Ile)
c.298G>A (p.Val100Ile)
c.*197G>A (n.*197G>A)
c.244G>A (p.Val82Ile)
c.214G>A (p.Val72Ile)
c.241G>A (p.Val81Ile)
c.418G>A (n.418G>A)
c.407G>A
6g.137206212C>ACA365775753IFNGR1c.267G>T (p.Trp89Cys)
c.201-6G>T (n.201-6G>T)
c.174G>T (p.Trp58Cys)
c.297G>T (p.Trp99Cys)
c.*196G>T (n.*196G>T)
c.243G>T (p.Trp81Cys)
c.213G>T (p.Trp71Cys)
c.240G>T (p.Trp80Cys)
c.417G>T (n.417G>T)
c.406G>T
ClinVar dbSNP
6g.137206212C=CA1666386037IFNGR1c.267G= (p.Trp89=)
c.201-6G= (n.201-6G=)
c.174G= (p.Trp58=)
c.297G= (p.Trp99=)
c.*196G= (n.*196G=)
c.243G= (p.Trp81=)
c.213G= (p.Trp71=)
c.240G= (p.Trp80=)
c.417G= (n.417G=)
c.406G=
6g.137206212C>GCA365775752IFNGR1c.267G>C (p.Trp89Cys)
c.201-6G>C (n.201-6G>C)
c.174G>C (p.Trp58Cys)
c.297G>C (p.Trp99Cys)
c.*196G>C (n.*196G>C)
c.243G>C (p.Trp81Cys)
c.213G>C (p.Trp71Cys)
c.240G>C (p.Trp80Cys)
c.417G>C (n.417G>C)
c.406G>C
6g.137206212C>TCA365775751IFNGR1c.267G>A (p.Trp89Ter)
c.201-6G>A (n.201-6G>A)
c.174G>A (p.Trp58Ter)
c.297G>A (p.Trp99Ter)
c.*196G>A (n.*196G>A)
c.243G>A (p.Trp81Ter)
c.213G>A (p.Trp71Ter)
c.240G>A (p.Trp80Ter)
c.417G>A (n.417G>A)
c.406G>A
6g.137206213C>ACA365775754IFNGR1c.266G>T (p.Trp89Leu)
c.201-7G>T (n.201-7G>T)
c.173G>T (p.Trp58Leu)
c.296G>T (p.Trp99Leu)
c.*195G>T (n.*195G>T)
c.242G>T (p.Trp81Leu)
c.212G>T (p.Trp71Leu)
c.239G>T (p.Trp80Leu)
c.416G>T (n.416G>T)
c.405G>T
6g.137206213C>GCA365775755IFNGR1c.266G>C (p.Trp89Ser)
c.201-7G>C (n.201-7G>C)
c.173G>C (p.Trp58Ser)
c.296G>C (p.Trp99Ser)
c.*195G>C (n.*195G>C)
c.242G>C (p.Trp81Ser)
c.212G>C (p.Trp71Ser)
c.239G>C (p.Trp80Ser)
c.416G>C (n.416G>C)
c.405G>C
COSMIC COSMIC
6g.137206213C>TCA365775756IFNGR1c.266G>A (p.Trp89Ter)
c.201-7G>A (n.201-7G>A)
c.173G>A (p.Trp58Ter)
c.296G>A (p.Trp99Ter)
c.*195G>A (n.*195G>A)
c.242G>A (p.Trp81Ter)
c.212G>A (p.Trp71Ter)
c.239G>A (p.Trp80Ter)
c.416G>A (n.416G>A)
c.405G>A
6g.137206214A=CA1666386038IFNGR1c.265T= (p.Trp89=)
c.201-8T= (n.201-8T=)
c.172T= (p.Trp58=)
c.295T= (p.Trp99=)
c.*194T= (n.*194T=)
c.241T= (p.Trp81=)
c.211T= (p.Trp71=)
c.238T= (p.Trp80=)
c.415T= (n.415T=)
c.404T=
6g.137206214A>CCA365775757IFNGR1c.265T>G (p.Trp89Gly)
c.201-8T>G (n.201-8T>G)
c.172T>G (p.Trp58Gly)
c.295T>G (p.Trp99Gly)
c.*194T>G (n.*194T>G)
c.241T>G (p.Trp81Gly)
c.211T>G (p.Trp71Gly)
c.238T>G (p.Trp80Gly)
c.415T>G (n.415T>G)
c.404T>G
6g.137206214A>GCA365775758IFNGR1c.265T>C (p.Trp89Arg)
c.201-8T>C (n.201-8T>C)
c.172T>C (p.Trp58Arg)
c.295T>C (p.Trp99Arg)
c.*194T>C (n.*194T>C)
c.241T>C (p.Trp81Arg)
c.211T>C (p.Trp71Arg)
c.238T>C (p.Trp80Arg)
c.415T>C (n.415T>C)
c.404T>C
ClinVar dbSNP
6g.137206214A>TCA365775759IFNGR1c.265T>A (p.Trp89Arg)
c.201-8T>A (n.201-8T>A)
c.172T>A (p.Trp58Arg)
c.295T>A (p.Trp99Arg)
c.*194T>A (n.*194T>A)
c.241T>A (p.Trp81Arg)
c.211T>A (p.Trp71Arg)
c.238T>A (p.Trp80Arg)
c.415T>A (n.415T>A)
c.404T>A
6g.137206215A=CA1666386039IFNGR1c.264T= (p.Leu88=)
c.201-9T= (n.201-9T=)
c.171T= (p.Leu57=)
c.294T= (p.Leu98=)
c.*193T= (n.*193T=)
c.240T= (p.Leu80=)
c.210T= (p.Leu70=)
c.237T= (p.Leu79=)
c.414T= (n.414T=)
c.403T=
6g.137206215A>CCA452236929IFNGR1c.264T>G (p.Leu88=)
c.201-9T>G (n.201-9T>G)
c.171T>G (p.Leu57=)
c.294T>G (p.Leu98=)
c.*193T>G (n.*193T>G)
c.240T>G (p.Leu80=)
c.210T>G (p.Leu70=)
c.237T>G (p.Leu79=)
c.414T>G (n.414T>G)
c.403T>G
6g.137206215A>GCA452236930IFNGR1c.264T>C (p.Leu88=)
c.201-9T>C (n.201-9T>C)
c.171T>C (p.Leu57=)
c.294T>C (p.Leu98=)
c.*193T>C (n.*193T>C)
c.240T>C (p.Leu80=)
c.210T>C (p.Leu70=)
c.237T>C (p.Leu79=)
c.414T>C (n.414T>C)
c.403T>C
dbSNP gnomAD v2 gnomAD v4
6g.137206215A>TCA452236931IFNGR1c.264T>A (p.Leu88=)
c.201-9T>A (n.201-9T>A)
c.171T>A (p.Leu57=)
c.294T>A (p.Leu98=)
c.*193T>A (n.*193T>A)
c.240T>A (p.Leu80=)
c.210T>A (p.Leu70=)
c.237T>A (p.Leu79=)
c.414T>A (n.414T>A)
c.403T>A
6g.137206216A>CCA365775760IFNGR1c.263T>G (p.Leu88Arg)
c.201-10T>G (n.201-10T>G)
c.170T>G (p.Leu57Arg)
c.293T>G (p.Leu98Arg)
c.*192T>G (n.*192T>G)
c.239T>G (p.Leu80Arg)
c.209T>G (p.Leu70Arg)
c.236T>G (p.Leu79Arg)
c.413T>G (n.413T>G)
c.402T>G
6g.137206216A>GCA365775762IFNGR1c.263T>C (p.Leu88Pro)
c.201-10T>C (n.201-10T>C)
c.170T>C (p.Leu57Pro)
c.293T>C (p.Leu98Pro)
c.*192T>C (n.*192T>C)
c.239T>C (p.Leu80Pro)
c.209T>C (p.Leu70Pro)
c.236T>C (p.Leu79Pro)
c.413T>C (n.413T>C)
c.402T>C
6g.137206216A>TCA365775761IFNGR1c.263T>A (p.Leu88His)
c.201-10T>A (n.201-10T>A)
c.170T>A (p.Leu57His)
c.293T>A (p.Leu98His)
c.*192T>A (n.*192T>A)
c.239T>A (p.Leu80His)
c.209T>A (p.Leu70His)
c.236T>A (p.Leu79His)
c.413T>A (n.413T>A)
c.402T>A
6g.137206219_137206220delCA2680500278IFNGR1c.262_263del (p.Trp89GlyfsTer4)
c.201-11_201-10del (n.201-11_201-10del)
c.169_170del (p.Trp58GlyfsTer4)
c.292_293del (p.Trp99GlyfsTer4)
c.*191_*192del (n.*191_*192del)
c.238_239del (p.Trp81GlyfsTer4)
c.208_209del (p.Trp71GlyfsTer4)
c.235_236del (p.Trp80GlyfsTer4)
c.412_413del (n.412_413del)
c.401_402del
gnomAD v4
6g.137206217G>ACA365775763IFNGR1c.262C>T (p.Leu88Phe)
c.201-11C>T (n.201-11C>T)
c.169C>T (p.Leu57Phe)
c.292C>T (p.Leu98Phe)
c.*191C>T (n.*191C>T)
c.238C>T (p.Leu80Phe)
c.208C>T (p.Leu70Phe)
c.235C>T (p.Leu79Phe)
c.412C>T (n.412C>T)
c.401C>T
dbSNP
6g.137206217G>CCA365775764IFNGR1c.262C>G (p.Leu88Val)
c.201-11C>G (n.201-11C>G)
c.169C>G (p.Leu57Val)
c.292C>G (p.Leu98Val)
c.*191C>G (n.*191C>G)
c.238C>G (p.Leu80Val)
c.208C>G (p.Leu70Val)
c.235C>G (p.Leu79Val)
c.412C>G (n.412C>G)
c.401C>G
6g.137206217G>TCA365775765IFNGR1c.262C>A (p.Leu88Ile)
c.201-11C>A (n.201-11C>A)
c.169C>A (p.Leu57Ile)
c.292C>A (p.Leu98Ile)
c.*191C>A (n.*191C>A)
c.238C>A (p.Leu80Ile)
c.208C>A (p.Leu70Ile)
c.235C>A (p.Leu79Ile)
c.412C>A (n.412C>A)
c.401C>A
6g.137206218A>CCA452236932IFNGR1c.261T>G (p.Ser87=)
c.201-12T>G (n.201-12T>G)
c.168T>G (p.Ser56=)
c.291T>G (p.Ser97=)
c.*190T>G (n.*190T>G)
c.237T>G (p.Ser79=)
c.207T>G (p.Ser69=)
c.234T>G (p.Ser78=)
c.411T>G (n.411T>G)
c.400T>G
6g.137206218A>GCA452236933IFNGR1c.261T>C (p.Ser87=)
c.201-12T>C (n.201-12T>C)
c.168T>C (p.Ser56=)
c.291T>C (p.Ser97=)
c.*190T>C (n.*190T>C)
c.237T>C (p.Ser79=)
c.207T>C (p.Ser69=)
c.234T>C (p.Ser78=)
c.411T>C (n.411T>C)
c.400T>C
COSMIC COSMIC
6g.137206218A>TCA452236934IFNGR1c.261T>A (p.Ser87=)
c.201-12T>A (n.201-12T>A)
c.168T>A (p.Ser56=)
c.291T>A (p.Ser97=)
c.*190T>A (n.*190T>A)
c.237T>A (p.Ser79=)
c.207T>A (p.Ser69=)
c.234T>A (p.Ser78=)
c.411T>A (n.411T>A)
c.400T>A
6g.137206219G>ACA365775766IFNGR1c.260C>T (p.Ser87Phe)
c.201-13C>T (n.201-13C>T)
c.167C>T (p.Ser56Phe)
c.290C>T (p.Ser97Phe)
c.*189C>T (n.*189C>T)
c.236C>T (p.Ser79Phe)
c.206C>T (p.Ser69Phe)
c.233C>T (p.Ser78Phe)
c.410C>T (n.410C>T)
c.399C>T
6g.137206219G>CCA365775767IFNGR1c.260C>G (p.Ser87Cys)
c.201-13C>G (n.201-13C>G)
c.167C>G (p.Ser56Cys)
c.290C>G (p.Ser97Cys)
c.*189C>G (n.*189C>G)
c.236C>G (p.Ser79Cys)
c.206C>G (p.Ser69Cys)
c.233C>G (p.Ser78Cys)
c.410C>G (n.410C>G)
c.399C>G
dbSNP gnomAD v2 gnomAD v4
6g.137206219G=CA1666386040IFNGR1c.260C= (p.Ser87=)
c.201-13C= (n.201-13C=)
c.167C= (p.Ser56=)
c.290C= (p.Ser97=)
c.*189C= (n.*189C=)
c.236C= (p.Ser79=)
c.206C= (p.Ser69=)
c.233C= (p.Ser78=)
c.410C= (n.410C=)
c.399C=
6g.137206219G>TCA365775768IFNGR1c.260C>A (p.Ser87Tyr)
c.201-13C>A (n.201-13C>A)
c.167C>A (p.Ser56Tyr)
c.290C>A (p.Ser97Tyr)
c.*189C>A (n.*189C>A)
c.236C>A (p.Ser79Tyr)
c.206C>A (p.Ser69Tyr)
c.233C>A (p.Ser78Tyr)
c.410C>A (n.410C>A)
c.399C>A
6g.137206220A>CCA365775769IFNGR1c.259T>G (p.Ser87Ala)
c.201-14T>G (n.201-14T>G)
c.166T>G (p.Ser56Ala)
c.289T>G (p.Ser97Ala)
c.*188T>G (n.*188T>G)
c.235T>G (p.Ser79Ala)
c.205T>G (p.Ser69Ala)
c.232T>G (p.Ser78Ala)
c.409T>G (n.409T>G)
c.398T>G
6g.137206220A>GCA365775770IFNGR1c.259T>C (p.Ser87Pro)
c.201-14T>C (n.201-14T>C)
c.166T>C (p.Ser56Pro)
c.289T>C (p.Ser97Pro)
c.*188T>C (n.*188T>C)
c.235T>C (p.Ser79Pro)
c.205T>C (p.Ser69Pro)
c.232T>C (p.Ser78Pro)
c.409T>C (n.409T>C)
c.398T>C
6g.137206220A>TCA365775771IFNGR1c.259T>A (p.Ser87Thr)
c.201-14T>A (n.201-14T>A)
c.166T>A (p.Ser56Thr)
c.289T>A (p.Ser97Thr)
c.*188T>A (n.*188T>A)
c.235T>A (p.Ser79Thr)
c.205T>A (p.Ser69Thr)
c.232T>A (p.Ser78Thr)
c.409T>A (n.409T>A)
c.398T>A
6g.137206221A>CCA365775772IFNGR1c.258T>G (p.Asn86Lys)
c.201-15T>G (n.201-15T>G)
c.165T>G (p.Asn55Lys)
c.288T>G (p.Asn96Lys)
c.*187T>G (n.*187T>G)
c.234T>G (p.Asn78Lys)
c.204T>G (p.Asn68Lys)
c.231T>G (p.Asn77Lys)
c.408T>G (n.408T>G)
c.397T>G
6g.137206221A>GCA452236943IFNGR1c.258T>C (p.Asn86=)
c.201-15T>C (n.201-15T>C)
c.165T>C (p.Asn55=)
c.288T>C (p.Asn96=)
c.*187T>C (n.*187T>C)
c.234T>C (p.Asn78=)
c.204T>C (p.Asn68=)
c.231T>C (p.Asn77=)
c.408T>C (n.408T>C)
c.397T>C
6g.137206221A>TCA365775773IFNGR1c.258T>A (p.Asn86Lys)
c.201-15T>A (n.201-15T>A)
c.165T>A (p.Asn55Lys)
c.288T>A (p.Asn96Lys)
c.*187T>A (n.*187T>A)
c.234T>A (p.Asn78Lys)
c.204T>A (p.Asn68Lys)
c.231T>A (p.Asn77Lys)
c.408T>A (n.408T>A)
c.397T>A
6g.137206222T>ACA365775775IFNGR1c.257A>T (p.Asn86Ile)
c.201-16A>T (n.201-16A>T)
c.164A>T (p.Asn55Ile)
c.287A>T (p.Asn96Ile)
c.*186A>T (n.*186A>T)
c.233A>T (p.Asn78Ile)
c.203A>T (p.Asn68Ile)
c.230A>T (p.Asn77Ile)
c.407A>T (n.407A>T)
c.396A>T
6g.137206222T>CCA365775776IFNGR1c.257A>G (p.Asn86Ser)
c.201-16A>G (n.201-16A>G)
c.164A>G (p.Asn55Ser)
c.287A>G (p.Asn96Ser)
c.*186A>G (n.*186A>G)
c.233A>G (p.Asn78Ser)
c.203A>G (p.Asn68Ser)
c.230A>G (p.Asn77Ser)
c.407A>G (n.407A>G)
c.396A>G
COSMIC COSMIC
6g.137206222T>GCA365775774IFNGR1c.257A>C (p.Asn86Thr)
c.201-16A>C (n.201-16A>C)
c.164A>C (p.Asn55Thr)
c.287A>C (p.Asn96Thr)
c.*186A>C (n.*186A>C)
c.233A>C (p.Asn78Thr)
c.203A>C (p.Asn68Thr)
c.230A>C (p.Asn77Thr)
c.407A>C (n.407A>C)
c.396A>C
6g.137206223T>ACA365775777IFNGR1c.256A>T (p.Asn86Tyr)
c.201-17A>T (n.201-17A>T)
c.163A>T (p.Asn55Tyr)
c.286A>T (p.Asn96Tyr)
c.*185A>T (n.*185A>T)
c.232A>T (p.Asn78Tyr)
c.202A>T (p.Asn68Tyr)
c.229A>T (p.Asn77Tyr)
c.406A>T (n.406A>T)
c.395A>T
6g.137206223T>CCA4018998IFNGR1c.256A>G (p.Asn86Asp)
c.201-17A>G (n.201-17A>G)
c.163A>G (p.Asn55Asp)
c.286A>G (p.Asn96Asp)
c.*185A>G (n.*185A>G)
c.232A>G (p.Asn78Asp)
c.202A>G (p.Asn68Asp)
c.229A>G (p.Asn77Asp)
c.406A>G (n.406A>G)
c.395A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.137206223T>GCA365775778IFNGR1c.256A>C (p.Asn86His)
c.201-17A>C (n.201-17A>C)
c.163A>C (p.Asn55His)
c.286A>C (p.Asn96His)
c.*185A>C (n.*185A>C)
c.232A>C (p.Asn78His)
c.202A>C (p.Asn68His)
c.229A>C (p.Asn77His)
c.406A>C (n.406A>C)
c.395A>C
gnomAD v4
6g.137206223T=CA1666386041IFNGR1c.256A= (p.Asn86=)
c.201-17A= (n.201-17A=)
c.163A= (p.Asn55=)
c.286A= (p.Asn96=)
c.*185A= (n.*185A=)
c.232A= (p.Asn78=)
c.202A= (p.Asn68=)
c.229A= (p.Asn77=)
c.406A= (n.406A=)
c.395A=
6g.137206224T>ACA452236944IFNGR1c.255A>T (p.Ser85=)
c.201-18A>T (n.201-18A>T)
c.162A>T (p.Ser54=)
c.285A>T (p.Ser95=)
c.*184A>T (n.*184A>T)
c.231A>T (p.Ser77=)
c.201A>T (p.Ser67=)
c.228A>T (p.Ser76=)
c.405A>T (n.405A>T)
c.394A>T
6g.137206224T>CCA452236945IFNGR1c.255A>G (p.Ser85=)
c.201-18A>G (n.201-18A>G)
c.162A>G (p.Ser54=)
c.285A>G (p.Ser95=)
c.*184A>G (n.*184A>G)
c.231A>G (p.Ser77=)
c.201A>G (p.Ser67=)
c.228A>G (p.Ser76=)
c.405A>G (n.405A>G)
c.394A>G
dbSNP
6g.137206224T>GCA452236946IFNGR1c.255A>C (p.Ser85=)
c.201-18A>C (n.201-18A>C)
c.162A>C (p.Ser54=)
c.285A>C (p.Ser95=)
c.*184A>C (n.*184A>C)
c.231A>C (p.Ser77=)
c.201A>C (p.Ser67=)
c.228A>C (p.Ser76=)
c.405A>C (n.405A>C)
c.394A>C
6g.137206224T=CA1666386042IFNGR1c.255A= (p.Ser85=)
c.201-18A= (n.201-18A=)
c.162A= (p.Ser54=)
c.285A= (p.Ser95=)
c.*184A= (n.*184A=)
c.231A= (p.Ser77=)
c.201A= (p.Ser67=)
c.228A= (p.Ser76=)
c.405A= (n.405A=)
c.394A=
6g.137206225G>ACA365775779IFNGR1c.254C>T (p.Ser85Leu)
c.201-19C>T (n.201-19C>T)
c.161C>T (p.Ser54Leu)
c.284C>T (p.Ser95Leu)
c.*183C>T (n.*183C>T)
c.230C>T (p.Ser77Leu)
c.200C>T (p.Ser67Leu)
c.227C>T (p.Ser76Leu)
c.404C>T (n.404C>T)
c.393C>T
6g.137206225G>CCA365775780IFNGR1c.254C>G (p.Ser85Ter)
c.201-19C>G (n.201-19C>G)
c.161C>G (p.Ser54Ter)
c.284C>G (p.Ser95Ter)
c.*183C>G (n.*183C>G)
c.230C>G (p.Ser77Ter)
c.200C>G (p.Ser67Ter)
c.227C>G (p.Ser76Ter)
c.404C>G (n.404C>G)
c.393C>G
6g.137206225G>TCA365775781IFNGR1c.254C>A (p.Ser85Ter)
c.201-19C>A (n.201-19C>A)
c.161C>A (p.Ser54Ter)
c.284C>A (p.Ser95Ter)
c.*183C>A (n.*183C>A)
c.230C>A (p.Ser77Ter)
c.200C>A (p.Ser67Ter)
c.227C>A (p.Ser76Ter)
c.404C>A (n.404C>A)
c.393C>A
6g.137206226A>CCA365775782IFNGR1c.253T>G (p.Ser85Ala)
c.201-20T>G (n.201-20T>G)
c.160T>G (p.Ser54Ala)
c.283T>G (p.Ser95Ala)
c.*182T>G (n.*182T>G)
c.229T>G (p.Ser77Ala)
c.199T>G (p.Ser67Ala)
c.226T>G (p.Ser76Ala)
c.403T>G (n.403T>G)
c.392T>G
6g.137206226A>GCA365775783IFNGR1c.253T>C (p.Ser85Pro)
c.201-20T>C (n.201-20T>C)
c.160T>C (p.Ser54Pro)
c.283T>C (p.Ser95Pro)
c.*182T>C (n.*182T>C)
c.229T>C (p.Ser77Pro)
c.199T>C (p.Ser67Pro)
c.226T>C (p.Ser76Pro)
c.403T>C (n.403T>C)
c.392T>C
6g.137206226A>TCA365775784IFNGR1c.253T>A (p.Ser85Thr)
c.201-20T>A (n.201-20T>A)
c.160T>A (p.Ser54Thr)
c.283T>A (p.Ser95Thr)
c.*182T>A (n.*182T>A)
c.229T>A (p.Ser77Thr)
c.199T>A (p.Ser67Thr)
c.226T>A (p.Ser76Thr)
c.403T>A (n.403T>A)
c.392T>A
6g.137206227T>ACA452236947IFNGR1c.252A>T (p.Pro84=)
c.201-21A>T (n.201-21A>T)
c.159A>T (p.Pro53=)
c.282A>T (p.Pro94=)
c.*181A>T (n.*181A>T)
c.228A>T (p.Pro76=)
c.198A>T (p.Pro66=)
c.225A>T (p.Pro75=)
c.402A>T (n.402A>T)
c.391A>T
6g.137206227T>CCA452236949IFNGR1c.252A>G (p.Pro84=)
c.201-21A>G (n.201-21A>G)
c.159A>G (p.Pro53=)
c.282A>G (p.Pro94=)
c.*181A>G (n.*181A>G)
c.228A>G (p.Pro76=)
c.198A>G (p.Pro66=)
c.225A>G (p.Pro75=)
c.402A>G (n.402A>G)
c.391A>G
dbSNP gnomAD v2 gnomAD v4
6g.137206227T>GCA452236948IFNGR1c.252A>C (p.Pro84=)
c.201-21A>C (n.201-21A>C)
c.159A>C (p.Pro53=)
c.282A>C (p.Pro94=)
c.*181A>C (n.*181A>C)
c.228A>C (p.Pro76=)
c.198A>C (p.Pro66=)
c.225A>C (p.Pro75=)
c.402A>C (n.402A>C)
c.391A>C
6g.137206227T=CA1666386043IFNGR1c.252A= (p.Pro84=)
c.201-21A= (n.201-21A=)
c.159A= (p.Pro53=)
c.282A= (p.Pro94=)
c.*181A= (n.*181A=)
c.228A= (p.Pro76=)
c.198A= (p.Pro66=)
c.225A= (p.Pro75=)
c.402A= (n.402A=)
c.391A=
6g.137206228G>ACA365775785IFNGR1c.251C>T (p.Pro84Leu)
c.201-22C>T (n.201-22C>T)
c.158C>T (p.Pro53Leu)
c.281C>T (p.Pro94Leu)
c.*180C>T (n.*180C>T)
c.227C>T (p.Pro76Leu)
c.197C>T (p.Pro66Leu)
c.224C>T (p.Pro75Leu)
c.401C>T (n.401C>T)
c.390C>T
6g.137206228G>CCA365775786IFNGR1c.251C>G (p.Pro84Arg)
c.201-22C>G (n.201-22C>G)
c.158C>G (p.Pro53Arg)
c.281C>G (p.Pro94Arg)
c.*180C>G (n.*180C>G)
c.227C>G (p.Pro76Arg)
c.197C>G (p.Pro66Arg)
c.224C>G (p.Pro75Arg)
c.401C>G (n.401C>G)
c.390C>G
6g.137206228G>TCA365775787IFNGR1c.251C>A (p.Pro84Gln)
c.201-22C>A (n.201-22C>A)
c.158C>A (p.Pro53Gln)
c.281C>A (p.Pro94Gln)
c.*180C>A (n.*180C>A)
c.227C>A (p.Pro76Gln)
c.197C>A (p.Pro66Gln)
c.224C>A (p.Pro75Gln)
c.401C>A (n.401C>A)
c.390C>A
6g.137206229G>ACA365775788IFNGR1c.250C>T (p.Pro84Ser)
c.201-23C>T (n.201-23C>T)
c.157C>T (p.Pro53Ser)
c.280C>T (p.Pro94Ser)
c.*179C>T (n.*179C>T)
c.226C>T (p.Pro76Ser)
c.196C>T (p.Pro66Ser)
c.223C>T (p.Pro75Ser)
c.400C>T (n.400C>T)
c.389C>T
dbSNP
6g.137206229G>CCA365775789IFNGR1c.250C>G (p.Pro84Ala)
c.201-23C>G (n.201-23C>G)
c.157C>G (p.Pro53Ala)
c.280C>G (p.Pro94Ala)
c.*179C>G (n.*179C>G)
c.226C>G (p.Pro76Ala)
c.196C>G (p.Pro66Ala)
c.223C>G (p.Pro75Ala)
c.400C>G (n.400C>G)
c.389C>G
6g.137206229G>TCA365775790IFNGR1c.250C>A (p.Pro84Thr)
c.201-23C>A (n.201-23C>A)
c.157C>A (p.Pro53Thr)
c.280C>A (p.Pro94Thr)
c.*179C>A (n.*179C>A)
c.226C>A (p.Pro76Thr)
c.196C>A (p.Pro66Thr)
c.223C>A (p.Pro75Thr)
c.400C>A (n.400C>A)
c.389C>A
6g.137206230A>CCA365775791IFNGR1c.249T>G (p.Asp83Glu)
c.201-24T>G (n.201-24T>G)
c.156T>G (p.Asp52Glu)
c.279T>G (p.Asp93Glu)
c.*178T>G (n.*178T>G)
c.225T>G (p.Asp75Glu)
c.195T>G (p.Asp65Glu)
c.222T>G (p.Asp74Glu)
c.399T>G (n.399T>G)
c.388T>G
6g.137206230A>GCA452236950IFNGR1c.249T>C (p.Asp83=)
c.201-24T>C (n.201-24T>C)
c.156T>C (p.Asp52=)
c.279T>C (p.Asp93=)
c.*178T>C (n.*178T>C)
c.225T>C (p.Asp75=)
c.195T>C (p.Asp65=)
c.222T>C (p.Asp74=)
c.399T>C (n.399T>C)
c.388T>C
6g.137206230A>TCA365775792IFNGR1c.249T>A (p.Asp83Glu)
c.201-24T>A (n.201-24T>A)
c.156T>A (p.Asp52Glu)
c.279T>A (p.Asp93Glu)
c.*178T>A (n.*178T>A)
c.225T>A (p.Asp75Glu)
c.195T>A (p.Asp65Glu)
c.222T>A (p.Asp74Glu)
c.399T>A (n.399T>A)
c.388T>A
gnomAD v4
6g.137206231T>ACA365775793IFNGR1c.248A>T (p.Asp83Val)
c.201-25A>T (n.201-25A>T)
c.155A>T (p.Asp52Val)
c.278A>T (p.Asp93Val)
c.*177A>T (n.*177A>T)
c.224A>T (p.Asp75Val)
c.194A>T (p.Asp65Val)
c.221A>T (p.Asp74Val)
c.398A>T (n.398A>T)
c.387A>T
6g.137206231T>CCA365775794IFNGR1c.248A>G (p.Asp83Gly)
c.201-25A>G (n.201-25A>G)
c.155A>G (p.Asp52Gly)
c.278A>G (p.Asp93Gly)
c.*177A>G (n.*177A>G)
c.224A>G (p.Asp75Gly)
c.194A>G (p.Asp65Gly)
c.221A>G (p.Asp74Gly)
c.398A>G (n.398A>G)
c.387A>G
6g.137206231T>GCA365775795IFNGR1c.248A>C (p.Asp83Ala)
c.201-25A>C (n.201-25A>C)
c.155A>C (p.Asp52Ala)
c.278A>C (p.Asp93Ala)
c.*177A>C (n.*177A>C)
c.224A>C (p.Asp75Ala)
c.194A>C (p.Asp65Ala)
c.221A>C (p.Asp74Ala)
c.398A>C (n.398A>C)
c.387A>C
6g.137206232C>ACA365775796IFNGR1c.247G>T (p.Asp83Tyr)
c.201-26G>T (n.201-26G>T)
c.154G>T (p.Asp52Tyr)
c.277G>T (p.Asp93Tyr)
c.*176G>T (n.*176G>T)
c.223G>T (p.Asp75Tyr)
c.193G>T (p.Asp65Tyr)
c.220G>T (p.Asp74Tyr)
c.397G>T (n.397G>T)
c.386G>T
gnomAD v4
6g.137206232C=CA1666386044IFNGR1c.247G= (p.Asp83=)
c.201-26G= (n.201-26G=)
c.154G= (p.Asp52=)
c.277G= (p.Asp93=)
c.*176G= (n.*176G=)
c.223G= (p.Asp75=)
c.193G= (p.Asp65=)
c.220G= (p.Asp74=)
c.397G= (n.397G=)
c.386G=
6g.137206232C>GCA365775797IFNGR1c.247G>C (p.Asp83His)
c.201-26G>C (n.201-26G>C)
c.154G>C (p.Asp52His)
c.277G>C (p.Asp93His)
c.*176G>C (n.*176G>C)
c.223G>C (p.Asp75His)
c.193G>C (p.Asp65His)
c.220G>C (p.Asp74His)
c.397G>C (n.397G>C)
c.386G>C
6g.137206232C>TCA365775798IFNGR1c.247G>A (p.Asp83Asn)
c.201-26G>A (n.201-26G>A)
c.154G>A (p.Asp52Asn)
c.277G>A (p.Asp93Asn)
c.*176G>A (n.*176G>A)
c.223G>A (p.Asp75Asn)
c.193G>A (p.Asp65Asn)
c.220G>A (p.Asp74Asn)
c.397G>A (n.397G>A)
c.386G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.137206233A>CCA452236951IFNGR1c.246T>G (p.Gly82=)
c.201-27T>G (n.201-27T>G)
c.153T>G (p.Gly51=)
c.276T>G (p.Gly92=)
c.*175T>G (n.*175T>G)
c.222T>G (p.Gly74=)
c.192T>G (p.Gly64=)
c.219T>G (p.Gly73=)
c.396T>G (n.396T>G)
c.385T>G
6g.137206233A>GCA452236952IFNGR1c.246T>C (p.Gly82=)
c.201-27T>C (n.201-27T>C)
c.153T>C (p.Gly51=)
c.276T>C (p.Gly92=)
c.*175T>C (n.*175T>C)
c.222T>C (p.Gly74=)
c.192T>C (p.Gly64=)
c.219T>C (p.Gly73=)
c.396T>C (n.396T>C)
c.385T>C
dbSNP
6g.137206233A>TCA452236953IFNGR1c.246T>A (p.Gly82=)
c.201-27T>A (n.201-27T>A)
c.153T>A (p.Gly51=)
c.276T>A (p.Gly92=)
c.*175T>A (n.*175T>A)
c.222T>A (p.Gly74=)
c.192T>A (p.Gly64=)
c.219T>A (p.Gly73=)
c.396T>A (n.396T>A)
c.385T>A
6g.137206234C>ACA365775799IFNGR1c.245G>T (p.Gly82Val)
c.201-28G>T (n.201-28G>T)
c.152G>T (p.Gly51Val)
c.275G>T (p.Gly92Val)
c.*174G>T (n.*174G>T)
c.221G>T (p.Gly74Val)
c.191G>T (p.Gly64Val)
c.218G>T (p.Gly73Val)
c.395G>T (n.395G>T)
c.384G>T
6g.137206234C=CA1666386045IFNGR1c.245G= (p.Gly82=)
c.201-28G= (n.201-28G=)
c.152G= (p.Gly51=)
c.275G= (p.Gly92=)
c.*174G= (n.*174G=)
c.221G= (p.Gly74=)
c.191G= (p.Gly64=)
c.218G= (p.Gly73=)
c.395G= (n.395G=)
c.384G=
6g.137206234C>GCA365775800IFNGR1c.245G>C (p.Gly82Ala)
c.201-28G>C (n.201-28G>C)
c.152G>C (p.Gly51Ala)
c.275G>C (p.Gly92Ala)
c.*174G>C (n.*174G>C)
c.221G>C (p.Gly74Ala)
c.191G>C (p.Gly64Ala)
c.218G>C (p.Gly73Ala)
c.395G>C (n.395G>C)
c.384G>C
6g.137206234C>TCA4018999IFNGR1c.245G>A (p.Gly82Asp)
c.201-28G>A (n.201-28G>A)
c.152G>A (p.Gly51Asp)
c.275G>A (p.Gly92Asp)
c.*174G>A (n.*174G>A)
c.221G>A (p.Gly74Asp)
c.191G>A (p.Gly64Asp)
c.218G>A (p.Gly73Asp)
c.395G>A (n.395G>A)
c.384G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.137206235C>ACA365775801IFNGR1c.244G>T (p.Gly82Cys)
c.201-29G>T (n.201-29G>T)
c.151G>T (p.Gly51Cys)
c.274G>T (p.Gly92Cys)
c.*173G>T (n.*173G>T)
c.220G>T (p.Gly74Cys)
c.190G>T (p.Gly64Cys)
c.217G>T (p.Gly73Cys)
c.394G>T (n.394G>T)
c.383G>T
6g.137206235C>GCA365775802IFNGR1c.244G>C (p.Gly82Arg)
c.201-29G>C (n.201-29G>C)
c.151G>C (p.Gly51Arg)
c.274G>C (p.Gly92Arg)
c.*173G>C (n.*173G>C)
c.220G>C (p.Gly74Arg)
c.190G>C (p.Gly64Arg)
c.217G>C (p.Gly73Arg)
c.394G>C (n.394G>C)
c.383G>C
6g.137206235C>TCA365775803IFNGR1c.244G>A (p.Gly82Ser)
c.201-29G>A (n.201-29G>A)
c.151G>A (p.Gly51Ser)
c.274G>A (p.Gly92Ser)
c.*173G>A (n.*173G>A)
c.220G>A (p.Gly74Ser)
c.190G>A (p.Gly64Ser)
c.217G>A (p.Gly73Ser)
c.394G>A (n.394G>A)
c.383G>A
6g.137206236A=CA1666386046IFNGR1c.243T= (p.Val81=)
c.201-30T= (n.201-30T=)
c.150T= (p.Val50=)
c.273T= (p.Val91=)
c.*172T= (n.*172T=)
c.219T= (p.Val73=)
c.189T= (p.Val63=)
c.216T= (p.Val72=)
c.393T= (n.393T=)
c.382T=
6g.137206236A>CCA452236954IFNGR1c.243T>G (p.Val81=)
c.201-30T>G (n.201-30T>G)
c.150T>G (p.Val50=)
c.273T>G (p.Val91=)
c.*172T>G (n.*172T>G)
c.219T>G (p.Val73=)
c.189T>G (p.Val63=)
c.216T>G (p.Val72=)
c.393T>G (n.393T>G)
c.382T>G
dbSNP
6g.137206236A>GCA452236955IFNGR1c.243T>C (p.Val81=)
c.201-30T>C (n.201-30T>C)
c.150T>C (p.Val50=)
c.273T>C (p.Val91=)
c.*172T>C (n.*172T>C)
c.219T>C (p.Val73=)
c.189T>C (p.Val63=)
c.216T>C (p.Val72=)
c.393T>C (n.393T>C)
c.382T>C
6g.137206236A>TCA452236956IFNGR1c.243T>A (p.Val81=)
c.201-30T>A (n.201-30T>A)
c.150T>A (p.Val50=)
c.273T>A (p.Val91=)
c.*172T>A (n.*172T>A)
c.219T>A (p.Val73=)
c.189T>A (p.Val63=)
c.216T>A (p.Val72=)
c.393T>A (n.393T>A)
c.382T>A
6g.137206237A>CCA365775804IFNGR1c.242T>G (p.Val81Gly)
c.201-31T>G (n.201-31T>G)
c.149T>G (p.Val50Gly)
c.272T>G (p.Val91Gly)
c.*171T>G (n.*171T>G)
c.218T>G (p.Val73Gly)
c.188T>G (p.Val63Gly)
c.215T>G (p.Val72Gly)
c.392T>G (n.392T>G)
c.381T>G
6g.137206237A>GCA365775806IFNGR1c.242T>C (p.Val81Ala)
c.201-31T>C (n.201-31T>C)
c.149T>C (p.Val50Ala)
c.272T>C (p.Val91Ala)
c.*171T>C (n.*171T>C)
c.218T>C (p.Val73Ala)
c.188T>C (p.Val63Ala)
c.215T>C (p.Val72Ala)
c.392T>C (n.392T>C)
c.381T>C
6g.137206237A>TCA365775805IFNGR1c.242T>A (p.Val81Asp)
c.201-31T>A (n.201-31T>A)
c.149T>A (p.Val50Asp)
c.272T>A (p.Val91Asp)
c.*171T>A (n.*171T>A)
c.218T>A (p.Val73Asp)
c.188T>A (p.Val63Asp)
c.215T>A (p.Val72Asp)
c.392T>A (n.392T>A)
c.381T>A
6g.137206238C>ACA365775807IFNGR1c.241G>T (p.Val81Phe)
c.201-32G>T (n.201-32G>T)
c.148G>T (p.Val50Phe)
c.271G>T (p.Val91Phe)
c.*170G>T (n.*170G>T)
c.217G>T (p.Val73Phe)
c.187G>T (p.Val63Phe)
c.214G>T (p.Val72Phe)
c.391G>T (n.391G>T)
c.380G>T
6g.137206238C=CA1666386047IFNGR1c.241G= (p.Val81=)
c.201-32G= (n.201-32G=)
c.148G= (p.Val50=)
c.271G= (p.Val91=)
c.*170G= (n.*170G=)
c.217G= (p.Val73=)
c.187G= (p.Val63=)
c.214G= (p.Val72=)
c.391G= (n.391G=)
c.380G=
6g.137206238C>GCA365775808IFNGR1c.241G>C (p.Val81Leu)
c.201-32G>C (n.201-32G>C)
c.148G>C (p.Val50Leu)
c.271G>C (p.Val91Leu)
c.*170G>C (n.*170G>C)
c.217G>C (p.Val73Leu)
c.187G>C (p.Val63Leu)
c.214G>C (p.Val72Leu)
c.391G>C (n.391G>C)
c.380G>C
6g.137206238C>TCA365775809IFNGR1c.241G>A (p.Val81Ile)
c.201-32G>A (n.201-32G>A)
c.148G>A (p.Val50Ile)
c.271G>A (p.Val91Ile)
c.*170G>A (n.*170G>A)
c.217G>A (p.Val73Ile)
c.187G>A (p.Val63Ile)
c.214G>A (p.Val72Ile)
c.391G>A (n.391G>A)
c.380G>A
dbSNP gnomAD v2 gnomAD v4
6g.137206239A>CCA365775810IFNGR1c.240T>G (p.His80Gln)
c.201-33T>G (n.201-33T>G)
c.147T>G (p.His49Gln)
c.270T>G (p.His90Gln)
c.*169T>G (n.*169T>G)
c.216T>G (p.His72Gln)
c.186T>G (p.His62Gln)
c.213T>G (p.His71Gln)
c.390T>G (n.390T>G)
c.379T>G
6g.137206239A>GCA452236957IFNGR1c.240T>C (p.His80=)
c.201-33T>C (n.201-33T>C)
c.147T>C (p.His49=)
c.270T>C (p.His90=)
c.*169T>C (n.*169T>C)
c.216T>C (p.His72=)
c.186T>C (p.His62=)
c.213T>C (p.His71=)
c.390T>C (n.390T>C)
c.379T>C
6g.137206239A>TCA365775811IFNGR1c.240T>A (p.His80Gln)
c.201-33T>A (n.201-33T>A)
c.147T>A (p.His49Gln)
c.270T>A (p.His90Gln)
c.*169T>A (n.*169T>A)
c.216T>A (p.His72Gln)
c.186T>A (p.His62Gln)
c.213T>A (p.His71Gln)
c.390T>A (n.390T>A)
c.379T>A
6g.137206240T>ACA365775812IFNGR1c.239A>T (p.His80Leu)
c.201-34A>T (n.201-34A>T)
c.146A>T (p.His49Leu)
c.269A>T (p.His90Leu)
c.*168A>T (n.*168A>T)
c.215A>T (p.His72Leu)
c.185A>T (p.His62Leu)
c.212A>T (p.His71Leu)
c.389A>T (n.389A>T)
c.378A>T
ClinVar dbSNP
6g.137206240T>CCA365775813IFNGR1c.239A>G (p.His80Arg)
c.201-34A>G (n.201-34A>G)
c.146A>G (p.His49Arg)
c.269A>G (p.His90Arg)
c.*168A>G (n.*168A>G)
c.215A>G (p.His72Arg)
c.185A>G (p.His62Arg)
c.212A>G (p.His71Arg)
c.389A>G (n.389A>G)
c.378A>G
6g.137206240T>GCA365775814IFNGR1c.239A>C (p.His80Pro)
c.201-34A>C (n.201-34A>C)
c.146A>C (p.His49Pro)
c.269A>C (p.His90Pro)
c.*168A>C (n.*168A>C)
c.215A>C (p.His72Pro)
c.185A>C (p.His62Pro)
c.212A>C (p.His71Pro)
c.389A>C (n.389A>C)
c.378A>C
6g.137206241G>ACA365775815IFNGR1c.238C>T (p.His80Tyr)
c.201-35C>T (n.201-35C>T)
c.145C>T (p.His49Tyr)
c.268C>T (p.His90Tyr)
c.*167C>T (n.*167C>T)
c.214C>T (p.His72Tyr)
c.184C>T (p.His62Tyr)
c.211C>T (p.His71Tyr)
c.388C>T (n.388C>T)
c.377C>T
dbSNP gnomAD v4
6g.137206241G>CCA365775816IFNGR1c.238C>G (p.His80Asp)
c.201-35C>G (n.201-35C>G)
c.145C>G (p.His49Asp)
c.268C>G (p.His90Asp)
c.*167C>G (n.*167C>G)
c.214C>G (p.His72Asp)
c.184C>G (p.His62Asp)
c.211C>G (p.His71Asp)
c.388C>G (n.388C>G)
c.377C>G
6g.137206241G>TCA365775817IFNGR1c.238C>A (p.His80Asn)
c.201-35C>A (n.201-35C>A)
c.145C>A (p.His49Asn)
c.268C>A (p.His90Asn)
c.*167C>A (n.*167C>A)
c.214C>A (p.His72Asn)
c.184C>A (p.His62Asn)
c.211C>A (p.His71Asn)
c.388C>A (n.388C>A)
c.377C>A
6g.137206242A>CCA365775818IFNGR1c.237T>G (p.Asp79Glu)
c.201-36T>G (n.201-36T>G)
c.144T>G (p.Asp48Glu)
c.267T>G (p.Asp89Glu)
c.*166T>G (n.*166T>G)
c.213T>G (p.Asp71Glu)
c.183T>G (p.Asp61Glu)
c.210T>G (p.Asp70Glu)
c.387T>G (n.387T>G)
c.376T>G
6g.137206242A>GCA452236958IFNGR1c.237T>C (p.Asp79=)
c.201-36T>C (n.201-36T>C)
c.144T>C (p.Asp48=)
c.267T>C (p.Asp89=)
c.*166T>C (n.*166T>C)
c.213T>C (p.Asp71=)
c.183T>C (p.Asp61=)
c.210T>C (p.Asp70=)
c.387T>C (n.387T>C)
c.376T>C
6g.137206242A>TCA365775819IFNGR1c.237T>A (p.Asp79Glu)
c.201-36T>A (n.201-36T>A)
c.144T>A (p.Asp48Glu)
c.267T>A (p.Asp89Glu)
c.*166T>A (n.*166T>A)
c.213T>A (p.Asp71Glu)
c.183T>A (p.Asp61Glu)
c.210T>A (p.Asp70Glu)
c.387T>A (n.387T>A)
c.376T>A
6g.137206243T>ACA365775820IFNGR1c.236A>T (p.Asp79Val)
c.201-37A>T (n.201-37A>T)
c.143A>T (p.Asp48Val)
c.266A>T (p.Asp89Val)
c.*165A>T (n.*165A>T)
c.212A>T (p.Asp71Val)
c.182A>T (p.Asp61Val)
c.209A>T (p.Asp70Val)
c.386A>T (n.386A>T)
c.375A>T
6g.137206243T>CCA365775822IFNGR1c.236A>G (p.Asp79Gly)
c.201-37A>G (n.201-37A>G)
c.143A>G (p.Asp48Gly)
c.266A>G (p.Asp89Gly)
c.*165A>G (n.*165A>G)
c.212A>G (p.Asp71Gly)
c.182A>G (p.Asp61Gly)
c.209A>G (p.Asp70Gly)
c.386A>G (n.386A>G)
c.375A>G
gnomAD v4
6g.137206243T>GCA365775821IFNGR1c.236A>C (p.Asp79Ala)
c.201-37A>C (n.201-37A>C)
c.143A>C (p.Asp48Ala)
c.266A>C (p.Asp89Ala)
c.*165A>C (n.*165A>C)
c.212A>C (p.Asp71Ala)
c.182A>C (p.Asp61Ala)
c.209A>C (p.Asp70Ala)
c.386A>C (n.386A>C)
c.375A>C
6g.137206244C>ACA365775823IFNGR1c.235G>T (p.Asp79Tyr)
c.201-38G>T (n.201-38G>T)
c.142G>T (p.Asp48Tyr)
c.265G>T (p.Asp89Tyr)
c.*164G>T (n.*164G>T)
c.211G>T (p.Asp71Tyr)
c.181G>T (p.Asp61Tyr)
c.208G>T (p.Asp70Tyr)
c.385G>T (n.385G>T)
c.374G>T
6g.137206244C=CA1666386048IFNGR1c.235G= (p.Asp79=)
c.201-38G= (n.201-38G=)
c.142G= (p.Asp48=)
c.265G= (p.Asp89=)
c.*164G= (n.*164G=)
c.211G= (p.Asp71=)
c.181G= (p.Asp61=)
c.208G= (p.Asp70=)
c.385G= (n.385G=)
c.374G=
6g.137206244C>GCA365775824IFNGR1c.235G>C (p.Asp79His)
c.201-38G>C (n.201-38G>C)
c.142G>C (p.Asp48His)
c.265G>C (p.Asp89His)
c.*164G>C (n.*164G>C)
c.211G>C (p.Asp71His)
c.181G>C (p.Asp61His)
c.208G>C (p.Asp70His)
c.385G>C (n.385G>C)
c.374G>C
6g.137206244C>TCA365775825IFNGR1c.235G>A (p.Asp79Asn)
c.201-38G>A (n.201-38G>A)
c.142G>A (p.Asp48Asn)
c.265G>A (p.Asp89Asn)
c.*164G>A (n.*164G>A)
c.211G>A (p.Asp71Asn)
c.181G>A (p.Asp61Asn)
c.208G>A (p.Asp70Asn)
c.385G>A (n.385G>A)
c.374G>A
dbSNP gnomAD v2 gnomAD v4
6g.137206245A>CCA452236959IFNGR1c.234T>G (p.Ser78=)
c.201-39T>G (n.201-39T>G)
c.141T>G (p.Ser47=)
c.264T>G (p.Ser88=)
c.*163T>G (n.*163T>G)
c.210T>G (p.Ser70=)
c.180T>G (p.Ser60=)
c.207T>G (p.Ser69=)
c.384T>G (n.384T>G)
c.373T>G
6g.137206245A>GCA452236960IFNGR1c.234T>C (p.Ser78=)
c.201-39T>C (n.201-39T>C)
c.141T>C (p.Ser47=)
c.264T>C (p.Ser88=)
c.*163T>C (n.*163T>C)
c.210T>C (p.Ser70=)
c.180T>C (p.Ser60=)
c.207T>C (p.Ser69=)
c.384T>C (n.384T>C)
c.373T>C
gnomAD v4
6g.137206245A>TCA452236961IFNGR1c.234T>A (p.Ser78=)
c.201-39T>A (n.201-39T>A)
c.141T>A (p.Ser47=)
c.264T>A (p.Ser88=)
c.*163T>A (n.*163T>A)
c.210T>A (p.Ser70=)
c.180T>A (p.Ser60=)
c.207T>A (p.Ser69=)
c.384T>A (n.384T>A)
c.373T>A
6g.137206254_137206274dupCA570587332IFNGR1c.214_234dup (p.Ser78_Asp79insHisHisTyrCysAsnIleSer)
c.201-59_201-39dup (n.201-59_201-39dup)
c.121_141dup (p.Ser47_Asp48insHisHisTyrCysAsnIleSer)
c.244_264dup (p.Ser88_Asp89insHisHisTyrCysAsnIleSer)
c.*143_*163dup (n.*143_*163dup)
c.190_210dup (p.Ser70_Asp71insHisHisTyrCysAsnIleSer)
c.160_180dup (p.Ser60_Asp61insHisHisTyrCysAsnIleSer)
c.187_207dup (p.Ser69_Asp70insHisHisTyrCysAsnIleSer)
c.364_384dup (n.364_384dup)
c.353_373dup
dbSNP gnomAD v2 gnomAD v4
6g.137206246G>ACA365775826IFNGR1c.233C>T (p.Ser78Phe)
c.201-40C>T (n.201-40C>T)
c.140C>T (p.Ser47Phe)
c.263C>T (p.Ser88Phe)
c.*162C>T (n.*162C>T)
c.209C>T (p.Ser70Phe)
c.179C>T (p.Ser60Phe)
c.206C>T (p.Ser69Phe)
c.383C>T (n.383C>T)
c.372C>T
6g.137206246G>CCA365775827IFNGR1c.233C>G (p.Ser78Cys)
c.201-40C>G (n.201-40C>G)
c.140C>G (p.Ser47Cys)
c.263C>G (p.Ser88Cys)
c.*162C>G (n.*162C>G)
c.209C>G (p.Ser70Cys)
c.179C>G (p.Ser60Cys)
c.206C>G (p.Ser69Cys)
c.383C>G (n.383C>G)
c.372C>G
6g.137206246G>TCA365775828IFNGR1c.233C>A (p.Ser78Tyr)
c.201-40C>A (n.201-40C>A)
c.140C>A (p.Ser47Tyr)
c.263C>A (p.Ser88Tyr)
c.*162C>A (n.*162C>A)
c.209C>A (p.Ser70Tyr)
c.179C>A (p.Ser60Tyr)
c.206C>A (p.Ser69Tyr)
c.383C>A (n.383C>A)
c.372C>A
6g.137206247A>CCA365775829IFNGR1c.232T>G (p.Ser78Ala)
c.201-41T>G (n.201-41T>G)
c.139T>G (p.Ser47Ala)
c.262T>G (p.Ser88Ala)
c.*161T>G (n.*161T>G)
c.208T>G (p.Ser70Ala)
c.178T>G (p.Ser60Ala)
c.205T>G (p.Ser69Ala)
c.382T>G (n.382T>G)
c.371T>G
6g.137206247A>GCA365775830IFNGR1c.232T>C (p.Ser78Pro)
c.201-41T>C (n.201-41T>C)
c.139T>C (p.Ser47Pro)
c.262T>C (p.Ser88Pro)
c.*161T>C (n.*161T>C)
c.208T>C (p.Ser70Pro)
c.178T>C (p.Ser60Pro)
c.205T>C (p.Ser69Pro)
c.382T>C (n.382T>C)
c.371T>C
6g.137206247A>TCA365775831IFNGR1c.232T>A (p.Ser78Thr)
c.201-41T>A (n.201-41T>A)
c.139T>A (p.Ser47Thr)
c.262T>A (p.Ser88Thr)
c.*161T>A (n.*161T>A)
c.208T>A (p.Ser70Thr)
c.178T>A (p.Ser60Thr)
c.205T>A (p.Ser69Thr)
c.382T>A (n.382T>A)
c.371T>A
6g.137206248A>CCA365775832IFNGR1c.231T>G (p.Ile77Met)
c.201-42T>G (n.201-42T>G)
c.138T>G (p.Ile46Met)
c.261T>G (p.Ile87Met)
c.*160T>G (n.*160T>G)
c.207T>G (p.Ile69Met)
c.177T>G (p.Ile59Met)
c.204T>G (p.Ile68Met)
c.381T>G (n.381T>G)
c.370T>G
6g.137206248A>GCA452236962IFNGR1c.231T>C (p.Ile77=)
c.201-42T>C (n.201-42T>C)
c.138T>C (p.Ile46=)
c.261T>C (p.Ile87=)
c.*160T>C (n.*160T>C)
c.207T>C (p.Ile69=)
c.177T>C (p.Ile59=)
c.204T>C (p.Ile68=)
c.381T>C (n.381T>C)
c.370T>C
6g.137206248A>TCA452236963IFNGR1c.231T>A (p.Ile77=)
c.201-42T>A (n.201-42T>A)
c.138T>A (p.Ile46=)
c.261T>A (p.Ile87=)
c.*160T>A (n.*160T>A)
c.207T>A (p.Ile69=)
c.177T>A (p.Ile59=)
c.204T>A (p.Ile68=)
c.381T>A (n.381T>A)
c.370T>A
6g.137206249A=CA1666386049IFNGR1c.230T= (p.Ile77=)
c.201-43T= (n.201-43T=)
c.137T= (p.Ile46=)
c.260T= (p.Ile87=)
c.*159T= (n.*159T=)
c.206T= (p.Ile69=)
c.176T= (p.Ile59=)
c.203T= (p.Ile68=)
c.380T= (n.380T=)
c.369T=
6g.137206249A>CCA365775834IFNGR1c.230T>G (p.Ile77Ser)
c.201-43T>G (n.201-43T>G)
c.137T>G (p.Ile46Ser)
c.260T>G (p.Ile87Ser)
c.*159T>G (n.*159T>G)
c.206T>G (p.Ile69Ser)
c.176T>G (p.Ile59Ser)
c.203T>G (p.Ile68Ser)
c.380T>G (n.380T>G)
c.369T>G
6g.137206249A>GCA127599IFNGR1c.230T>C (p.Ile77Thr)
c.201-43T>C (n.201-43T>C)
c.137T>C (p.Ile46Thr)
c.260T>C (p.Ile87Thr)
c.*159T>C (n.*159T>C)
c.206T>C (p.Ile69Thr)
c.176T>C (p.Ile59Thr)
c.203T>C (p.Ile68Thr)
c.380T>C (n.380T>C)
c.369T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.137206249A>TCA365775833IFNGR1c.230T>A (p.Ile77Asn)
c.201-43T>A (n.201-43T>A)
c.137T>A (p.Ile46Asn)
c.260T>A (p.Ile87Asn)
c.*159T>A (n.*159T>A)
c.206T>A (p.Ile69Asn)
c.176T>A (p.Ile59Asn)
c.203T>A (p.Ile68Asn)
c.380T>A (n.380T>A)
c.369T>A
6g.137206250T>ACA365775837IFNGR1c.229A>T (p.Ile77Phe)
c.201-44A>T (n.201-44A>T)
c.136A>T (p.Ile46Phe)
c.259A>T (p.Ile87Phe)
c.*158A>T (n.*158A>T)
c.205A>T (p.Ile69Phe)
c.175A>T (p.Ile59Phe)
c.202A>T (p.Ile68Phe)
c.379A>T (n.379A>T)
c.368A>T
6g.137206250T>CCA365775835IFNGR1c.229A>G (p.Ile77Val)
c.201-44A>G (n.201-44A>G)
c.136A>G (p.Ile46Val)
c.259A>G (p.Ile87Val)
c.*158A>G (n.*158A>G)
c.205A>G (p.Ile69Val)
c.175A>G (p.Ile59Val)
c.202A>G (p.Ile68Val)
c.379A>G (n.379A>G)
c.368A>G
6g.137206250T>GCA365775836IFNGR1c.229A>C (p.Ile77Leu)
c.201-44A>C (n.201-44A>C)
c.136A>C (p.Ile46Leu)
c.259A>C (p.Ile87Leu)
c.*158A>C (n.*158A>C)
c.205A>C (p.Ile69Leu)
c.175A>C (p.Ile59Leu)
c.202A>C (p.Ile68Leu)
c.379A>C (n.379A>C)
c.368A>C
6g.137206251A=CA1666386050IFNGR1c.228T= (p.Asn76=)
c.201-45T= (n.201-45T=)
c.135T= (p.Asn45=)
c.258T= (p.Asn86=)
c.*157T= (n.*157T=)
c.204T= (p.Asn68=)
c.174T= (p.Asn58=)
c.201T= (p.Asn67=)
c.378T= (n.378T=)
c.367T=
6g.137206251A>CCA365775838IFNGR1c.228T>G (p.Asn76Lys)
c.201-45T>G (n.201-45T>G)
c.135T>G (p.Asn45Lys)
c.258T>G (p.Asn86Lys)
c.*157T>G (n.*157T>G)
c.204T>G (p.Asn68Lys)
c.174T>G (p.Asn58Lys)
c.201T>G (p.Asn67Lys)
c.378T>G (n.378T>G)
c.367T>G
6g.137206251A>GCA4019000IFNGR1c.228T>C (p.Asn76=)
c.201-45T>C (n.201-45T>C)
c.135T>C (p.Asn45=)
c.258T>C (p.Asn86=)
c.*157T>C (n.*157T>C)
c.204T>C (p.Asn68=)
c.174T>C (p.Asn58=)
c.201T>C (p.Asn67=)
c.378T>C (n.378T>C)
c.367T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.137206251A>TCA365775839IFNGR1c.228T>A (p.Asn76Lys)
c.201-45T>A (n.201-45T>A)
c.135T>A (p.Asn45Lys)
c.258T>A (p.Asn86Lys)
c.*157T>A (n.*157T>A)
c.204T>A (p.Asn68Lys)
c.174T>A (p.Asn58Lys)
c.201T>A (p.Asn67Lys)
c.378T>A (n.378T>A)
c.367T>A
6g.137206252T>ACA365775840IFNGR1c.227A>T (p.Asn76Ile)
c.201-46A>T (n.201-46A>T)
c.134A>T (p.Asn45Ile)
c.257A>T (p.Asn86Ile)
c.*156A>T (n.*156A>T)
c.203A>T (p.Asn68Ile)
c.173A>T (p.Asn58Ile)
c.200A>T (p.Asn67Ile)
c.377A>T (n.377A>T)
c.366A>T
6g.137206252T>CCA4019001IFNGR1c.227A>G (p.Asn76Ser)
c.201-46A>G (n.201-46A>G)
c.134A>G (p.Asn45Ser)
c.257A>G (p.Asn86Ser)
c.*156A>G (n.*156A>G)
c.203A>G (p.Asn68Ser)
c.173A>G (p.Asn58Ser)
c.200A>G (p.Asn67Ser)
c.377A>G (n.377A>G)
c.366A>G
dbSNP ExAC gnomAD v2 gnomAD v4
6g.137206252T>GCA365775841IFNGR1c.227A>C (p.Asn76Thr)
c.201-46A>C (n.201-46A>C)
c.134A>C (p.Asn45Thr)
c.257A>C (p.Asn86Thr)
c.*156A>C (n.*156A>C)
c.203A>C (p.Asn68Thr)
c.173A>C (p.Asn58Thr)
c.200A>C (p.Asn67Thr)
c.377A>C (n.377A>C)
c.366A>C
6g.137206252T=CA1666386051IFNGR1c.227A= (p.Asn76=)
c.201-46A= (n.201-46A=)
c.134A= (p.Asn45=)
c.257A= (p.Asn86=)
c.*156A= (n.*156A=)
c.203A= (p.Asn68=)
c.173A= (p.Asn58=)
c.200A= (p.Asn67=)
c.377A= (n.377A=)
c.366A=
6g.137206253T>ACA365775842IFNGR1c.226A>T (p.Asn76Tyr)
c.201-47A>T (n.201-47A>T)
c.133A>T (p.Asn45Tyr)
c.256A>T (p.Asn86Tyr)
c.*155A>T (n.*155A>T)
c.202A>T (p.Asn68Tyr)
c.172A>T (p.Asn58Tyr)
c.199A>T (p.Asn67Tyr)
c.376A>T (n.376A>T)
c.365A>T
6g.137206253T>CCA365775843IFNGR1c.226A>G (p.Asn76Asp)
c.201-47A>G (n.201-47A>G)
c.133A>G (p.Asn45Asp)
c.256A>G (p.Asn86Asp)
c.*155A>G (n.*155A>G)
c.202A>G (p.Asn68Asp)
c.172A>G (p.Asn58Asp)
c.199A>G (p.Asn67Asp)
c.376A>G (n.376A>G)
c.365A>G
6g.137206253T>GCA365775844IFNGR1c.226A>C (p.Asn76His)
c.201-47A>C (n.201-47A>C)
c.133A>C (p.Asn45His)
c.256A>C (p.Asn86His)
c.*155A>C (n.*155A>C)
c.202A>C (p.Asn68His)
c.172A>C (p.Asn58His)
c.199A>C (p.Asn67His)
c.376A>C (n.376A>C)
c.365A>C
6g.137206254A>CCA365775845IFNGR1c.225T>G (p.Cys75Trp)
c.201-48T>G (n.201-48T>G)
c.132T>G (p.Cys44Trp)
c.255T>G (p.Cys85Trp)
c.*154T>G (n.*154T>G)
c.201T>G (p.Cys67Trp)
c.171T>G (p.Cys57Trp)
c.198T>G (p.Cys66Trp)
c.375T>G (n.375T>G)
c.364T>G
6g.137206254A>GCA452236964IFNGR1c.225T>C (p.Cys75=)
c.201-48T>C (n.201-48T>C)
c.132T>C (p.Cys44=)
c.255T>C (p.Cys85=)
c.*154T>C (n.*154T>C)
c.201T>C (p.Cys67=)
c.171T>C (p.Cys57=)
c.198T>C (p.Cys66=)
c.375T>C (n.375T>C)
c.364T>C
6g.137206254A>TCA365775846IFNGR1c.225T>A (p.Cys75Ter)
c.201-48T>A (n.201-48T>A)
c.132T>A (p.Cys44Ter)
c.255T>A (p.Cys85Ter)
c.*154T>A (n.*154T>A)
c.201T>A (p.Cys67Ter)
c.171T>A (p.Cys57Ter)
c.198T>A (p.Cys66Ter)
c.375T>A (n.375T>A)
c.364T>A
6g.137206255C>ACA365775849IFNGR1c.224G>T (p.Cys75Phe)
c.201-49G>T (n.201-49G>T)
c.131G>T (p.Cys44Phe)
c.254G>T (p.Cys85Phe)
c.*153G>T (n.*153G>T)
c.200G>T (p.Cys67Phe)
c.170G>T (p.Cys57Phe)
c.197G>T (p.Cys66Phe)
c.374G>T (n.374G>T)
c.363G>T
6g.137206255C>GCA365775848IFNGR1c.224G>C (p.Cys75Ser)
c.201-49G>C (n.201-49G>C)
c.131G>C (p.Cys44Ser)
c.254G>C (p.Cys85Ser)
c.*153G>C (n.*153G>C)
c.200G>C (p.Cys67Ser)
c.170G>C (p.Cys57Ser)
c.197G>C (p.Cys66Ser)
c.374G>C (n.374G>C)
c.363G>C
6g.137206255C>TCA365775847IFNGR1c.224G>A (p.Cys75Tyr)
c.201-49G>A (n.201-49G>A)
c.131G>A (p.Cys44Tyr)
c.254G>A (p.Cys85Tyr)
c.*153G>A (n.*153G>A)
c.200G>A (p.Cys67Tyr)
c.170G>A (p.Cys57Tyr)
c.197G>A (p.Cys66Tyr)
c.374G>A (n.374G>A)
c.363G>A
6g.137206256A>CCA365775850IFNGR1c.223T>G (p.Cys75Gly)
c.201-50T>G (n.201-50T>G)
c.130T>G (p.Cys44Gly)
c.253T>G (p.Cys85Gly)
c.*152T>G (n.*152T>G)
c.199T>G (p.Cys67Gly)
c.169T>G (p.Cys57Gly)
c.196T>G (p.Cys66Gly)
c.373T>G (n.373T>G)
c.362T>G
6g.137206256A>GCA365775851IFNGR1c.223T>C (p.Cys75Arg)
c.201-50T>C (n.201-50T>C)
c.130T>C (p.Cys44Arg)
c.253T>C (p.Cys85Arg)
c.*152T>C (n.*152T>C)
c.199T>C (p.Cys67Arg)
c.169T>C (p.Cys57Arg)
c.196T>C (p.Cys66Arg)
c.373T>C (n.373T>C)
c.362T>C
6g.137206256A>TCA365775852IFNGR1c.223T>A (p.Cys75Ser)
c.201-50T>A (n.201-50T>A)
c.130T>A (p.Cys44Ser)
c.253T>A (p.Cys85Ser)
c.*152T>A (n.*152T>A)
c.199T>A (p.Cys67Ser)
c.169T>A (p.Cys57Ser)
c.196T>A (p.Cys66Ser)
c.373T>A (n.373T>A)
c.362T>A
6g.137206259_137206261delCA2680500279IFNGR1c.221_223del (p.Tyr74del)
c.201-52_201-50del (n.201-52_201-50del)
c.128_130del (p.Tyr43del)
c.251_253del (p.Tyr84del)
c.*150_*152del (n.*150_*152del)
c.197_199del (p.Tyr66del)
c.167_169del (p.Tyr56del)
c.194_196del (p.Tyr65del)
c.371_373del (n.371_373del)
c.360_362del
gnomAD v4
6g.137206257A>CCA365775853IFNGR1c.222T>G (p.Tyr74Ter)
c.201-51T>G (n.201-51T>G)
c.129T>G (p.Tyr43Ter)
c.252T>G (p.Tyr84Ter)
c.*151T>G (n.*151T>G)
c.198T>G (p.Tyr66Ter)
c.168T>G (p.Tyr56Ter)
c.195T>G (p.Tyr65Ter)
c.372T>G (n.372T>G)
c.361T>G
gnomAD v4
6g.137206257A>GCA452236965IFNGR1c.222T>C (p.Tyr74=)
c.201-51T>C (n.201-51T>C)
c.129T>C (p.Tyr43=)
c.252T>C (p.Tyr84=)
c.*151T>C (n.*151T>C)
c.198T>C (p.Tyr66=)
c.168T>C (p.Tyr56=)
c.195T>C (p.Tyr65=)
c.372T>C (n.372T>C)
c.361T>C
ClinVar dbSNP
6g.137206257A>TCA365775854IFNGR1c.222T>A (p.Tyr74Ter)
c.201-51T>A (n.201-51T>A)
c.129T>A (p.Tyr43Ter)
c.252T>A (p.Tyr84Ter)
c.*151T>A (n.*151T>A)
c.198T>A (p.Tyr66Ter)
c.168T>A (p.Tyr56Ter)
c.195T>A (p.Tyr65Ter)
c.372T>A (n.372T>A)
c.361T>A
6g.137206258T>ACA148230886IFNGR1c.221A>T (p.Tyr74Phe)
c.201-52A>T (n.201-52A>T)
c.128A>T (p.Tyr43Phe)
c.251A>T (p.Tyr84Phe)
c.*150A>T (n.*150A>T)
c.197A>T (p.Tyr66Phe)
c.167A>T (p.Tyr56Phe)
c.194A>T (p.Tyr65Phe)
c.371A>T (n.371A>T)
c.360A>T
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.137206258T>CCA4019002IFNGR1c.221A>G (p.Tyr74Cys)
c.201-52A>G (n.201-52A>G)
c.128A>G (p.Tyr43Cys)
c.251A>G (p.Tyr84Cys)
c.*150A>G (n.*150A>G)
c.197A>G (p.Tyr66Cys)
c.167A>G (p.Tyr56Cys)
c.194A>G (p.Tyr65Cys)
c.371A>G (n.371A>G)
c.360A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.137206258T>GCA365775855IFNGR1c.221A>C (p.Tyr74Ser)
c.201-52A>C (n.201-52A>C)
c.128A>C (p.Tyr43Ser)
c.251A>C (p.Tyr84Ser)
c.*150A>C (n.*150A>C)
c.197A>C (p.Tyr66Ser)
c.167A>C (p.Tyr56Ser)
c.194A>C (p.Tyr65Ser)
c.371A>C (n.371A>C)
c.360A>C
6g.137206258T=CA1666386052IFNGR1c.221A= (p.Tyr74=)
c.201-52A= (n.201-52A=)
c.128A= (p.Tyr43=)
c.251A= (p.Tyr84=)
c.*150A= (n.*150A=)
c.197A= (p.Tyr66=)
c.167A= (p.Tyr56=)
c.194A= (p.Tyr65=)
c.371A= (n.371A=)
c.360A=
6g.137206259A=CA1666386053IFNGR1c.220T= (p.Tyr74=)
c.201-53T= (n.201-53T=)
c.127T= (p.Tyr43=)
c.250T= (p.Tyr84=)
c.*149T= (n.*149T=)
c.196T= (p.Tyr66=)
c.166T= (p.Tyr56=)
c.193T= (p.Tyr65=)
c.370T= (n.370T=)
c.359T=
6g.137206259A>CCA365775856IFNGR1c.220T>G (p.Tyr74Asp)
c.201-53T>G (n.201-53T>G)
c.127T>G (p.Tyr43Asp)
c.250T>G (p.Tyr84Asp)
c.*149T>G (n.*149T>G)
c.196T>G (p.Tyr66Asp)
c.166T>G (p.Tyr56Asp)
c.193T>G (p.Tyr65Asp)
c.370T>G (n.370T>G)
c.359T>G
6g.137206259A>GCA4019003IFNGR1c.220T>C (p.Tyr74His)
c.201-53T>C (n.201-53T>C)
c.127T>C (p.Tyr43His)
c.250T>C (p.Tyr84His)
c.*149T>C (n.*149T>C)
c.196T>C (p.Tyr66His)
c.166T>C (p.Tyr56His)
c.193T>C (p.Tyr65His)
c.370T>C (n.370T>C)
c.359T>C
dbSNP ExAC gnomAD v3 gnomAD v4
6g.137206259A>TCA365775857IFNGR1c.220T>A (p.Tyr74Asn)
c.201-53T>A (n.201-53T>A)
c.127T>A (p.Tyr43Asn)
c.250T>A (p.Tyr84Asn)
c.*149T>A (n.*149T>A)
c.196T>A (p.Tyr66Asn)
c.166T>A (p.Tyr56Asn)
c.193T>A (p.Tyr65Asn)
c.370T>A (n.370T>A)
c.359T>A
6g.137206260A>CCA365775858IFNGR1c.219T>G (p.His73Gln)
c.201-54T>G (n.201-54T>G)
c.126T>G (p.His42Gln)
c.249T>G (p.His83Gln)
c.*148T>G (n.*148T>G)
c.195T>G (p.His65Gln)
c.165T>G (p.His55Gln)
c.192T>G (p.His64Gln)
c.369T>G (n.369T>G)
c.358T>G
6g.137206260A>GCA452236966IFNGR1c.219T>C (p.His73=)
c.201-54T>C (n.201-54T>C)
c.126T>C (p.His42=)
c.249T>C (p.His83=)
c.*148T>C (n.*148T>C)
c.195T>C (p.His65=)
c.165T>C (p.His55=)
c.192T>C (p.His64=)
c.369T>C (n.369T>C)
c.358T>C
6g.137206260A>TCA365775859IFNGR1c.219T>A (p.His73Gln)
c.201-54T>A (n.201-54T>A)
c.126T>A (p.His42Gln)
c.249T>A (p.His83Gln)
c.*148T>A (n.*148T>A)
c.195T>A (p.His65Gln)
c.165T>A (p.His55Gln)
c.192T>A (p.His64Gln)
c.369T>A (n.369T>A)
c.358T>A
6g.137206261T>ACA365775861IFNGR1c.218A>T (p.His73Leu)
c.201-55A>T (n.201-55A>T)
c.125A>T (p.His42Leu)
c.248A>T (p.His83Leu)
c.*147A>T (n.*147A>T)
c.194A>T (p.His65Leu)
c.164A>T (p.His55Leu)
c.191A>T (p.His64Leu)
c.368A>T (n.368A>T)
c.357A>T
6g.137206261T>CCA365775862IFNGR1c.218A>G (p.His73Arg)
c.201-55A>G (n.201-55A>G)
c.125A>G (p.His42Arg)
c.248A>G (p.His83Arg)
c.*147A>G (n.*147A>G)
c.194A>G (p.His65Arg)
c.164A>G (p.His55Arg)
c.191A>G (p.His64Arg)
c.368A>G (n.368A>G)
c.357A>G
dbSNP gnomAD v4
6g.137206261T>GCA365775860IFNGR1c.218A>C (p.His73Pro)
c.201-55A>C (n.201-55A>C)
c.125A>C (p.His42Pro)
c.248A>C (p.His83Pro)
c.*147A>C (n.*147A>C)
c.194A>C (p.His65Pro)
c.164A>C (p.His55Pro)
c.191A>C (p.His64Pro)
c.368A>C (n.368A>C)
c.357A>C
6g.137206261T=CA1666386054IFNGR1c.218A= (p.His73=)
c.201-55A= (n.201-55A=)
c.125A= (p.His42=)
c.248A= (p.His83=)
c.*147A= (n.*147A=)
c.194A= (p.His65=)
c.164A= (p.His55=)
c.191A= (p.His64=)
c.368A= (n.368A=)
c.357A=
6g.137206262G>ACA365775863IFNGR1c.217C>T (p.His73Tyr)
c.201-56C>T (n.201-56C>T)
c.124C>T (p.His42Tyr)
c.247C>T (p.His83Tyr)
c.*146C>T (n.*146C>T)
c.193C>T (p.His65Tyr)
c.163C>T (p.His55Tyr)
c.190C>T (p.His64Tyr)
c.367C>T (n.367C>T)
c.356C>T
6g.137206262G>CCA365775864IFNGR1c.217C>G (p.His73Asp)
c.201-56C>G (n.201-56C>G)
c.124C>G (p.His42Asp)
c.247C>G (p.His83Asp)
c.*146C>G (n.*146C>G)
c.193C>G (p.His65Asp)
c.163C>G (p.His55Asp)
c.190C>G (p.His64Asp)
c.367C>G (n.367C>G)
c.356C>G
6g.137206262G>TCA365775865IFNGR1c.217C>A (p.His73Asn)
c.201-56C>A (n.201-56C>A)
c.124C>A (p.His42Asn)
c.247C>A (p.His83Asn)
c.*146C>A (n.*146C>A)
c.193C>A (p.His65Asn)
c.163C>A (p.His55Asn)
c.190C>A (p.His64Asn)
c.367C>A (n.367C>A)
c.356C>A
gnomAD v4
6g.137206263A=CA1666386055IFNGR1c.216T= (p.His72=)
c.201-57T= (n.201-57T=)
c.123T= (p.His41=)
c.246T= (p.His82=)
c.*145T= (n.*145T=)
c.192T= (p.His64=)
c.162T= (p.His54=)
c.189T= (p.His63=)
c.366T= (n.366T=)
c.355T=
6g.137206263A>CCA365775866IFNGR1c.216T>G (p.His72Gln)
c.201-57T>G (n.201-57T>G)
c.123T>G (p.His41Gln)
c.246T>G (p.His82Gln)
c.*145T>G (n.*145T>G)
c.192T>G (p.His64Gln)
c.162T>G (p.His54Gln)
c.189T>G (p.His63Gln)
c.366T>G (n.366T>G)
c.355T>G
6g.137206263A>GCA148230902IFNGR1c.216T>C (p.His72=)
c.201-57T>C (n.201-57T>C)
c.123T>C (p.His41=)
c.246T>C (p.His82=)
c.*145T>C (n.*145T>C)
c.192T>C (p.His64=)
c.162T>C (p.His54=)
c.189T>C (p.His63=)
c.366T>C (n.366T>C)
c.355T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.137206263A>TCA365775867IFNGR1c.216T>A (p.His72Gln)
c.201-57T>A (n.201-57T>A)
c.123T>A (p.His41Gln)
c.246T>A (p.His82Gln)
c.*145T>A (n.*145T>A)
c.192T>A (p.His64Gln)
c.162T>A (p.His54Gln)
c.189T>A (p.His63Gln)
c.366T>A (n.366T>A)
c.355T>A
6g.137206264T>ACA365775868IFNGR1c.215A>T (p.His72Leu)
c.201-58A>T (n.201-58A>T)
c.122A>T (p.His41Leu)
c.245A>T (p.His82Leu)
c.*144A>T (n.*144A>T)
c.191A>T (p.His64Leu)
c.161A>T (p.His54Leu)
c.188A>T (p.His63Leu)
c.365A>T (n.365A>T)
c.354A>T
6g.137206264T>CCA365775869IFNGR1c.215A>G (p.His72Arg)
c.201-58A>G (n.201-58A>G)
c.122A>G (p.His41Arg)
c.245A>G (p.His82Arg)
c.*144A>G (n.*144A>G)
c.191A>G (p.His64Arg)
c.161A>G (p.His54Arg)
c.188A>G (p.His63Arg)
c.365A>G (n.365A>G)
c.354A>G
6g.137206264T>GCA365775870IFNGR1c.215A>C (p.His72Pro)
c.201-58A>C (n.201-58A>C)
c.122A>C (p.His41Pro)
c.245A>C (p.His82Pro)
c.*144A>C (n.*144A>C)
c.191A>C (p.His64Pro)
c.161A>C (p.His54Pro)
c.188A>C (p.His63Pro)
c.365A>C (n.365A>C)
c.354A>C
6g.137206265G>ACA365775871IFNGR1c.214C>T (p.His72Tyr)
c.201-59C>T (n.201-59C>T)
c.121C>T (p.His41Tyr)
c.244C>T (p.His82Tyr)
c.*143C>T (n.*143C>T)
c.190C>T (p.His64Tyr)
c.160C>T (p.His54Tyr)
c.187C>T (p.His63Tyr)
c.364C>T (n.364C>T)
c.353C>T
dbSNP gnomAD v4
6g.137206265G>CCA365775872IFNGR1c.214C>G (p.His72Asp)
c.201-59C>G (n.201-59C>G)
c.121C>G (p.His41Asp)
c.244C>G (p.His82Asp)
c.*143C>G (n.*143C>G)
c.190C>G (p.His64Asp)
c.160C>G (p.His54Asp)
c.187C>G (p.His63Asp)
c.364C>G (n.364C>G)
c.353C>G
dbSNP gnomAD v4
6g.137206265G>TCA365775873IFNGR1c.214C>A (p.His72Asn)
c.201-59C>A (n.201-59C>A)
c.121C>A (p.His41Asn)
c.244C>A (p.His82Asn)
c.*143C>A (n.*143C>A)
c.190C>A (p.His64Asn)
c.160C>A (p.His54Asn)
c.187C>A (p.His63Asn)
c.364C>A (n.364C>A)
c.353C>A
6g.137206266A>CCA452236967IFNGR1c.213T>G (p.Ser71=)
c.201-60T>G (n.201-60T>G)
c.120T>G (p.Ser40=)
c.243T>G (p.Ser81=)
c.*142T>G (n.*142T>G)
c.189T>G (p.Ser63=)
c.159T>G (p.Ser53=)
c.186T>G (p.Ser62=)
c.363T>G (n.363T>G)
c.352T>G
6g.137206266A>GCA452236968IFNGR1c.213T>C (p.Ser71=)
c.201-60T>C (n.201-60T>C)
c.120T>C (p.Ser40=)
c.243T>C (p.Ser81=)
c.*142T>C (n.*142T>C)
c.189T>C (p.Ser63=)
c.159T>C (p.Ser53=)
c.186T>C (p.Ser62=)
c.363T>C (n.363T>C)
c.352T>C
6g.137206266A>TCA452236969IFNGR1c.213T>A (p.Ser71=)
c.201-60T>A (n.201-60T>A)
c.120T>A (p.Ser40=)
c.243T>A (p.Ser81=)
c.*142T>A (n.*142T>A)
c.189T>A (p.Ser63=)
c.159T>A (p.Ser53=)
c.186T>A (p.Ser62=)
c.363T>A (n.363T>A)
c.352T>A
6g.137206267G>ACA365775876IFNGR1c.212C>T (p.Ser71Phe)
c.201-61C>T (n.201-61C>T)
c.119C>T (p.Ser40Phe)
c.242C>T (p.Ser81Phe)
c.*141C>T (n.*141C>T)
c.188C>T (p.Ser63Phe)
c.158C>T (p.Ser53Phe)
c.185C>T (p.Ser62Phe)
c.362C>T (n.362C>T)
c.351C>T
6g.137206267G>CCA365775874IFNGR1c.212C>G (p.Ser71Cys)
c.201-61C>G (n.201-61C>G)
c.119C>G (p.Ser40Cys)
c.242C>G (p.Ser81Cys)
c.*141C>G (n.*141C>G)
c.188C>G (p.Ser63Cys)
c.158C>G (p.Ser53Cys)
c.185C>G (p.Ser62Cys)
c.362C>G (n.362C>G)
c.351C>G
6g.137206267G>TCA365775875IFNGR1c.212C>A (p.Ser71Tyr)
c.201-61C>A (n.201-61C>A)
c.119C>A (p.Ser40Tyr)
c.242C>A (p.Ser81Tyr)
c.*141C>A (n.*141C>A)
c.188C>A (p.Ser63Tyr)
c.158C>A (p.Ser53Tyr)
c.185C>A (p.Ser62Tyr)
c.362C>A (n.362C>A)
c.351C>A
6g.137206268A>CCA365775877IFNGR1c.211T>G (p.Ser71Ala)
c.201-62T>G (n.201-62T>G)
c.118T>G (p.Ser40Ala)
c.241T>G (p.Ser81Ala)
c.*140T>G (n.*140T>G)
c.187T>G (p.Ser63Ala)
c.157T>G (p.Ser53Ala)
c.184T>G (p.Ser62Ala)
c.361T>G (n.361T>G)
c.350T>G
6g.137206268A>GCA365775878IFNGR1c.211T>C (p.Ser71Pro)
c.201-62T>C (n.201-62T>C)
c.118T>C (p.Ser40Pro)
c.241T>C (p.Ser81Pro)
c.*140T>C (n.*140T>C)
c.187T>C (p.Ser63Pro)
c.157T>C (p.Ser53Pro)
c.184T>C (p.Ser62Pro)
c.361T>C (n.361T>C)
c.350T>C
6g.137206268A>TCA365775879IFNGR1c.211T>A (p.Ser71Thr)
c.201-62T>A (n.201-62T>A)
c.118T>A (p.Ser40Thr)
c.241T>A (p.Ser81Thr)
c.*140T>A (n.*140T>A)
c.187T>A (p.Ser63Thr)
c.157T>A (p.Ser53Thr)
c.184T>A (p.Ser62Thr)
c.361T>A (n.361T>A)
c.350T>A
6g.137206269A=CA1666386056IFNGR1c.210T= (p.Ile70=)
c.201-63T= (n.201-63T=)
c.117T= (p.Ile39=)
c.240T= (p.Ile80=)
c.*139T= (n.*139T=)
c.186T= (p.Ile62=)
c.156T= (p.Ile52=)
c.183T= (p.Ile61=)
c.360T= (n.360T=)
c.349T=
6g.137206269A>CCA365775880IFNGR1c.210T>G (p.Ile70Met)
c.201-63T>G (n.201-63T>G)
c.117T>G (p.Ile39Met)
c.240T>G (p.Ile80Met)
c.*139T>G (n.*139T>G)
c.186T>G (p.Ile62Met)
c.156T>G (p.Ile52Met)
c.183T>G (p.Ile61Met)
c.360T>G (n.360T>G)
c.349T>G
dbSNP gnomAD v2 gnomAD v4
6g.137206269A>GCA452236970IFNGR1c.210T>C (p.Ile70=)
c.201-63T>C (n.201-63T>C)
c.117T>C (p.Ile39=)
c.240T>C (p.Ile80=)
c.*139T>C (n.*139T>C)
c.186T>C (p.Ile62=)
c.156T>C (p.Ile52=)
c.183T>C (p.Ile61=)
c.360T>C (n.360T>C)
c.349T>C
6g.137206269A>TCA452236971IFNGR1c.210T>A (p.Ile70=)
c.201-63T>A (n.201-63T>A)
c.117T>A (p.Ile39=)
c.240T>A (p.Ile80=)
c.*139T>A (n.*139T>A)
c.186T>A (p.Ile62=)
c.156T>A (p.Ile52=)
c.183T>A (p.Ile61=)
c.360T>A (n.360T>A)
c.349T>A
6g.137206270A>CCA365775881IFNGR1c.209T>G (p.Ile70Ser)
c.201-64T>G (n.201-64T>G)
c.116T>G (p.Ile39Ser)
c.239T>G (p.Ile80Ser)
c.*138T>G (n.*138T>G)
c.185T>G (p.Ile62Ser)
c.155T>G (p.Ile52Ser)
c.182T>G (p.Ile61Ser)
c.359T>G (n.359T>G)
c.348T>G
6g.137206270A>GCA365775882IFNGR1c.209T>C (p.Ile70Thr)
c.201-64T>C (n.201-64T>C)
c.116T>C (p.Ile39Thr)
c.239T>C (p.Ile80Thr)
c.*138T>C (n.*138T>C)
c.185T>C (p.Ile62Thr)
c.155T>C (p.Ile52Thr)
c.182T>C (p.Ile61Thr)
c.359T>C (n.359T>C)
c.348T>C
gnomAD v4
6g.137206270A>TCA365775883IFNGR1c.209T>A (p.Ile70Asn)
c.201-64T>A (n.201-64T>A)
c.116T>A (p.Ile39Asn)
c.239T>A (p.Ile80Asn)
c.*138T>A (n.*138T>A)
c.185T>A (p.Ile62Asn)
c.155T>A (p.Ile52Asn)
c.182T>A (p.Ile61Asn)
c.359T>A (n.359T>A)
c.348T>A
6g.137206271T>ACA365775884IFNGR1c.208A>T (p.Ile70Phe)
c.201-65A>T (n.201-65A>T)
c.115A>T (p.Ile39Phe)
c.238A>T (p.Ile80Phe)
c.*137A>T (n.*137A>T)
c.184A>T (p.Ile62Phe)
c.154A>T (p.Ile52Phe)
c.181A>T (p.Ile61Phe)
c.358A>T (n.358A>T)
c.347A>T
6g.137206271T>CCA365775885IFNGR1c.208A>G (p.Ile70Val)
c.201-65A>G (n.201-65A>G)
c.115A>G (p.Ile39Val)
c.238A>G (p.Ile80Val)
c.*137A>G (n.*137A>G)
c.184A>G (p.Ile62Val)
c.154A>G (p.Ile52Val)
c.181A>G (p.Ile61Val)
c.358A>G (n.358A>G)
c.347A>G
6g.137206271T>GCA365775886IFNGR1c.208A>C (p.Ile70Leu)
c.201-65A>C (n.201-65A>C)
c.115A>C (p.Ile39Leu)
c.238A>C (p.Ile80Leu)
c.*137A>C (n.*137A>C)
c.184A>C (p.Ile62Leu)
c.154A>C (p.Ile52Leu)
c.181A>C (p.Ile61Leu)
c.358A>C (n.358A>C)
c.347A>C
6g.137206272A>CCA365775887IFNGR1c.207T>G (p.Asn69Lys)
c.201-66T>G (n.201-66T>G)
c.114T>G (p.Asn38Lys)
c.237T>G (p.Asn79Lys)
c.*136T>G (n.*136T>G)
c.183T>G (p.Asn61Lys)
c.153T>G (p.Asn51Lys)
c.180T>G (p.Asn60Lys)
c.357T>G (n.357T>G)
c.346T>G
6g.137206272A>GCA452236972IFNGR1c.207T>C (p.Asn69=)
c.201-66T>C (n.201-66T>C)
c.114T>C (p.Asn38=)
c.237T>C (p.Asn79=)
c.*136T>C (n.*136T>C)
c.183T>C (p.Asn61=)
c.153T>C (p.Asn51=)
c.180T>C (p.Asn60=)
c.357T>C (n.357T>C)
c.346T>C
6g.137206272A>TCA365775888IFNGR1c.207T>A (p.Asn69Lys)
c.201-66T>A (n.201-66T>A)
c.114T>A (p.Asn38Lys)
c.237T>A (p.Asn79Lys)
c.*136T>A (n.*136T>A)
c.183T>A (p.Asn61Lys)
c.153T>A (p.Asn51Lys)
c.180T>A (p.Asn60Lys)
c.357T>A (n.357T>A)
c.346T>A
6g.137206273T>ACA365775890IFNGR1c.206A>T (p.Asn69Ile)
c.201-67A>T (n.201-67A>T)
c.113A>T (p.Asn38Ile)
c.236A>T (p.Asn79Ile)
c.*135A>T (n.*135A>T)
c.182A>T (p.Asn61Ile)
c.152A>T (p.Asn51Ile)
c.179A>T (p.Asn60Ile)
c.356A>T (n.356A>T)
c.345A>T
gnomAD v4
6g.137206273T>CCA4019004IFNGR1c.206A>G (p.Asn69Ser)
c.201-67A>G (n.201-67A>G)
c.113A>G (p.Asn38Ser)
c.236A>G (p.Asn79Ser)
c.*135A>G (n.*135A>G)
c.182A>G (p.Asn61Ser)
c.152A>G (p.Asn51Ser)
c.179A>G (p.Asn60Ser)
c.356A>G (n.356A>G)
c.345A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.137206273T>GCA365775889IFNGR1c.206A>C (p.Asn69Thr)
c.201-67A>C (n.201-67A>C)
c.113A>C (p.Asn38Thr)
c.236A>C (p.Asn79Thr)
c.*135A>C (n.*135A>C)
c.182A>C (p.Asn61Thr)
c.152A>C (p.Asn51Thr)
c.179A>C (p.Asn60Thr)
c.356A>C (n.356A>C)
c.345A>C
dbSNP
6g.137206273T=CA1666386057IFNGR1c.206A= (p.Asn69=)
c.201-67A= (n.201-67A=)
c.113A= (p.Asn38=)
c.236A= (p.Asn79=)
c.*135A= (n.*135A=)
c.182A= (p.Asn61=)
c.152A= (p.Asn51=)
c.179A= (p.Asn60=)
c.356A= (n.356A=)
c.345A=
6g.137206274T>ACA365775893IFNGR1c.205A>T (p.Asn69Tyr)
c.201-68A>T (n.201-68A>T)
c.112A>T (p.Asn38Tyr)
c.235A>T (p.Asn79Tyr)
c.*134A>T (n.*134A>T)
c.181A>T (p.Asn61Tyr)
c.151A>T (p.Asn51Tyr)
c.178A>T (p.Asn60Tyr)
c.355A>T (n.355A>T)
c.344A>T
6g.137206274T>CCA365775891IFNGR1c.205A>G (p.Asn69Asp)
c.201-68A>G (n.201-68A>G)
c.112A>G (p.Asn38Asp)
c.235A>G (p.Asn79Asp)
c.*134A>G (n.*134A>G)
c.181A>G (p.Asn61Asp)
c.151A>G (p.Asn51Asp)
c.178A>G (p.Asn60Asp)
c.355A>G (n.355A>G)
c.344A>G
gnomAD v4
6g.137206274T>GCA365775892IFNGR1c.205A>C (p.Asn69His)
c.201-68A>C (n.201-68A>C)
c.112A>C (p.Asn38His)
c.235A>C (p.Asn79His)
c.*134A>C (n.*134A>C)
c.181A>C (p.Asn61His)
c.151A>C (p.Asn51His)
c.178A>C (p.Asn60His)
c.355A>C (n.355A>C)
c.344A>C
gnomAD v4
6g.137206275G>ACA452236973IFNGR1c.204C>T (p.Ile68=)
c.201-69C>T (n.201-69C>T)
c.111C>T (p.Ile37=)
c.234C>T (p.Ile78=)
c.*133C>T (n.*133C>T)
c.180C>T (p.Ile60=)
c.150C>T (p.Ile50=)
c.177C>T (p.Ile59=)
c.354C>T (n.354C>T)
c.343C>T
dbSNP gnomAD v2 gnomAD v4
6g.137206275G>CCA365775894IFNGR1c.204C>G (p.Ile68Met)
c.201-69C>G (n.201-69C>G)
c.111C>G (p.Ile37Met)
c.234C>G (p.Ile78Met)
c.*133C>G (n.*133C>G)
c.180C>G (p.Ile60Met)
c.150C>G (p.Ile50Met)
c.177C>G (p.Ile59Met)
c.354C>G (n.354C>G)
c.343C>G
6g.137206275G=CA1666386058IFNGR1c.204C= (p.Ile68=)
c.201-69C= (n.201-69C=)
c.111C= (p.Ile37=)
c.234C= (p.Ile78=)
c.*133C= (n.*133C=)
c.180C= (p.Ile60=)
c.150C= (p.Ile50=)
c.177C= (p.Ile59=)
c.354C= (n.354C=)
c.343C=
6g.137206275G>TCA452236974IFNGR1c.204C>A (p.Ile68=)
c.201-69C>A (n.201-69C>A)
c.111C>A (p.Ile37=)
c.234C>A (p.Ile78=)
c.*133C>A (n.*133C>A)
c.180C>A (p.Ile60=)
c.150C>A (p.Ile50=)
c.177C>A (p.Ile59=)
c.354C>A (n.354C>A)
c.343C>A
6g.137206276A>CCA365775895IFNGR1c.203T>G (p.Ile68Ser)
c.201-70T>G (n.201-70T>G)
c.110T>G (p.Ile37Ser)
c.233T>G (p.Ile78Ser)
c.*132T>G (n.*132T>G)
c.179T>G (p.Ile60Ser)
c.149T>G (p.Ile50Ser)
c.176T>G (p.Ile59Ser)
c.353T>G (n.353T>G)
c.342T>G
6g.137206276A>GCA365775896IFNGR1c.203T>C (p.Ile68Thr)
c.201-70T>C (n.201-70T>C)
c.110T>C (p.Ile37Thr)
c.233T>C (p.Ile78Thr)
c.*132T>C (n.*132T>C)
c.179T>C (p.Ile60Thr)
c.149T>C (p.Ile50Thr)
c.176T>C (p.Ile59Thr)
c.353T>C (n.353T>C)
c.342T>C
6g.137206276A>TCA365775897IFNGR1c.203T>A (p.Ile68Asn)
c.201-70T>A (n.201-70T>A)
c.110T>A (p.Ile37Asn)
c.233T>A (p.Ile78Asn)
c.*132T>A (n.*132T>A)
c.179T>A (p.Ile60Asn)
c.149T>A (p.Ile50Asn)
c.176T>A (p.Ile59Asn)
c.353T>A (n.353T>A)
c.342T>A
6g.137206277T>ACA365775900IFNGR1c.202A>T (p.Ile68Phe)
c.201-71A>T (n.201-71A>T)
c.109A>T (p.Ile37Phe)
c.232A>T (p.Ile78Phe)
c.*131A>T (n.*131A>T)
c.178A>T (p.Ile60Phe)
c.148A>T (p.Ile50Phe)
c.175A>T (p.Ile59Phe)
c.352A>T (n.352A>T)
c.341A>T
6g.137206277T>CCA365775898IFNGR1c.202A>G (p.Ile68Val)
c.201-71A>G (n.201-71A>G)
c.109A>G (p.Ile37Val)
c.232A>G (p.Ile78Val)
c.*131A>G (n.*131A>G)
c.178A>G (p.Ile60Val)
c.148A>G (p.Ile50Val)
c.175A>G (p.Ile59Val)
c.352A>G (n.352A>G)
c.341A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.137206277T>GCA365775899IFNGR1c.202A>C (p.Ile68Leu)
c.201-71A>C (n.201-71A>C)
c.109A>C (p.Ile37Leu)
c.232A>C (p.Ile78Leu)
c.*131A>C (n.*131A>C)
c.178A>C (p.Ile60Leu)
c.148A>C (p.Ile50Leu)
c.175A>C (p.Ile59Leu)
c.352A>C (n.352A>C)
c.341A>C
6g.137206277T=CA1666386059IFNGR1c.202A= (p.Ile68=)
c.201-71A= (n.201-71A=)
c.109A= (p.Ile37=)
c.232A= (p.Ile78=)
c.*131A= (n.*131A=)
c.178A= (p.Ile60=)
c.148A= (p.Ile50=)
c.175A= (p.Ile59=)
c.352A= (n.352A=)
c.341A=
6g.137206278G>ACA452236975IFNGR1c.201C>T (p.Cys67=)
c.201-72C>T (n.201-72C>T)
c.108C>T (p.Cys36=)
c.231C>T (p.Cys77=)
c.*130C>T (n.*130C>T)
c.177C>T (p.Cys59=)
c.147C>T (p.Cys49=)
c.174C>T (p.Cys58=)
c.351C>T (n.351C>T)
c.340C>T
ClinVar dbSNP
6g.137206278G>CCA365775901IFNGR1c.201C>G (p.Cys67Trp)
c.201-72C>G (n.201-72C>G)
c.108C>G (p.Cys36Trp)
c.231C>G (p.Cys77Trp)
c.*130C>G (n.*130C>G)
c.177C>G (p.Cys59Trp)
c.147C>G (p.Cys49Trp)
c.174C>G (p.Cys58Trp)
c.351C>G (n.351C>G)
c.340C>G
6g.137206278G=CA1666386060IFNGR1c.201C= (p.Cys67=)
c.201-72C= (n.201-72C=)
c.108C= (p.Cys36=)
c.231C= (p.Cys77=)
c.*130C= (n.*130C=)
c.177C= (p.Cys59=)
c.147C= (p.Cys49=)
c.174C= (p.Cys58=)
c.351C= (n.351C=)
c.340C=
6g.137206278G>TCA365775902IFNGR1c.201C>A (p.Cys67Ter)
c.201-72C>A (n.201-72C>A)
c.108C>A (p.Cys36Ter)
c.231C>A (p.Cys77Ter)
c.*130C>A (n.*130C>A)
c.177C>A (p.Cys59Ter)
c.147C>A (p.Cys49Ter)
c.174C>A (p.Cys58Ter)
c.351C>A (n.351C>A)
c.340C>A
6g.137206279C>ACA365775903IFNGR1c.200G>T (p.Cys67Phe)
c.201-73G>T (n.201-73G>T)
c.107G>T (p.Cys36Phe)
c.230G>T (p.Cys77Phe)
c.*129G>T (n.*129G>T)
c.176G>T (p.Cys59Phe)
c.146G>T (p.Cys49Phe)
c.173G>T (p.Cys58Phe)
c.350G>T (n.350G>T)
c.339G>T
6g.137206279C=CA1666386061IFNGR1c.200G= (p.Cys67=)
c.201-73G= (n.201-73G=)
c.107G= (p.Cys36=)
c.230G= (p.Cys77=)
c.*129G= (n.*129G=)
c.176G= (p.Cys59=)
c.146G= (p.Cys49=)
c.173G= (p.Cys58=)
c.350G= (n.350G=)
c.339G=
6g.137206279C>GCA365775904IFNGR1c.200G>C (p.Cys67Ser)
c.201-73G>C (n.201-73G>C)
c.107G>C (p.Cys36Ser)
c.230G>C (p.Cys77Ser)
c.*129G>C (n.*129G>C)
c.176G>C (p.Cys59Ser)
c.146G>C (p.Cys49Ser)
c.173G>C (p.Cys58Ser)
c.350G>C (n.350G>C)
c.339G>C
6g.137206279C>TCA127607IFNGR1c.200G>A (p.Cys67Tyr)
c.201-73G>A (n.201-73G>A)
c.107G>A (p.Cys36Tyr)
c.230G>A (p.Cys77Tyr)
c.*129G>A (n.*129G>A)
c.176G>A (p.Cys59Tyr)
c.146G>A (p.Cys49Tyr)
c.173G>A (p.Cys58Tyr)
c.350G>A (n.350G>A)
c.339G>A
ClinVar dbSNP
6g.137206280A>CCA365775905IFNGR1c.199T>G (p.Cys67Gly)
c.201-74T>G (n.201-74T>G)
c.106T>G (p.Cys36Gly)
c.229T>G (p.Cys77Gly)
c.*128T>G (n.*128T>G)
c.175T>G (p.Cys59Gly)
c.145T>G (p.Cys49Gly)
c.172T>G (p.Cys58Gly)
c.349T>G (n.349T>G)
c.338T>G
gnomAD v4
6g.137206280A>GCA365775907IFNGR1c.199T>C (p.Cys67Arg)
c.201-74T>C (n.201-74T>C)
c.106T>C (p.Cys36Arg)
c.229T>C (p.Cys77Arg)
c.*128T>C (n.*128T>C)
c.175T>C (p.Cys59Arg)
c.145T>C (p.Cys49Arg)
c.172T>C (p.Cys58Arg)
c.349T>C (n.349T>C)
c.338T>C
6g.137206280A>TCA365775906IFNGR1c.199T>A (p.Cys67Ser)
c.201-74T>A (n.201-74T>A)
c.106T>A (p.Cys36Ser)
c.229T>A (p.Cys77Ser)
c.*128T>A (n.*128T>A)
c.175T>A (p.Cys59Ser)
c.145T>A (p.Cys49Ser)
c.172T>A (p.Cys58Ser)
c.349T>A (n.349T>A)
c.338T>A
6g.137206281G>ACA452236976IFNGR1c.198C>T (p.Ala66=)
c.201-75C>T (n.201-75C>T)
c.105C>T (p.Ala35=)
c.228C>T (p.Ala76=)
c.*127C>T (n.*127C>T)
c.174C>T (p.Ala58=)
c.144C>T (p.Ala48=)
c.171C>T (p.Ala57=)
c.348C>T (n.348C>T)
c.337C>T
6g.137206281G>CCA452236977IFNGR1c.198C>G (p.Ala66=)
c.201-75C>G (n.201-75C>G)
c.105C>G (p.Ala35=)
c.228C>G (p.Ala76=)
c.*127C>G (n.*127C>G)
c.174C>G (p.Ala58=)
c.144C>G (p.Ala48=)
c.171C>G (p.Ala57=)
c.348C>G (n.348C>G)
c.337C>G
6g.137206281G>TCA452236978IFNGR1c.198C>A (p.Ala66=)
c.201-75C>A (n.201-75C>A)
c.105C>A (p.Ala35=)
c.228C>A (p.Ala76=)
c.*127C>A (n.*127C>A)
c.174C>A (p.Ala58=)
c.144C>A (p.Ala48=)
c.171C>A (p.Ala57=)
c.348C>A (n.348C>A)
c.337C>A
gnomAD v4
6g.137206282G>ACA4019005IFNGR1c.197C>T (p.Ala66Val)
c.201-76C>T (n.201-76C>T)
c.104C>T (p.Ala35Val)
c.227C>T (p.Ala76Val)
c.*126C>T (n.*126C>T)
c.173C>T (p.Ala58Val)
c.143C>T (p.Ala48Val)
c.170C>T (p.Ala57Val)
c.347C>T (n.347C>T)
c.336C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.137206282G>CCA365775908IFNGR1c.197C>G (p.Ala66Gly)
c.201-76C>G (n.201-76C>G)
c.104C>G (p.Ala35Gly)
c.227C>G (p.Ala76Gly)
c.*126C>G (n.*126C>G)
c.173C>G (p.Ala58Gly)
c.143C>G (p.Ala48Gly)
c.170C>G (p.Ala57Gly)
c.347C>G (n.347C>G)
c.336C>G
gnomAD v4
6g.137206282G=CA1666386062IFNGR1c.197C= (p.Ala66=)
c.201-76C= (n.201-76C=)
c.104C= (p.Ala35=)
c.227C= (p.Ala76=)
c.*126C= (n.*126C=)
c.173C= (p.Ala58=)
c.143C= (p.Ala48=)
c.170C= (p.Ala57=)
c.347C= (n.347C=)
c.336C=
6g.137206282G>TCA365775909IFNGR1c.197C>A (p.Ala66Asp)
c.201-76C>A (n.201-76C>A)
c.104C>A (p.Ala35Asp)
c.227C>A (p.Ala76Asp)
c.*126C>A (n.*126C>A)
c.173C>A (p.Ala58Asp)
c.143C>A (p.Ala48Asp)
c.170C>A (p.Ala57Asp)
c.347C>A (n.347C>A)
c.336C>A
gnomAD v4
6g.137206283C>ACA365775910IFNGR1c.196G>T (p.Ala66Ser)
c.201-77G>T (n.201-77G>T)
c.103G>T (p.Ala35Ser)
c.226G>T (p.Ala76Ser)
c.*125G>T (n.*125G>T)
c.172G>T (p.Ala58Ser)
c.142G>T (p.Ala48Ser)
c.169G>T (p.Ala57Ser)
c.346G>T (n.346G>T)
c.335G>T
dbSNP gnomAD v2
6g.137206283C=CA1666386063IFNGR1c.196G= (p.Ala66=)
c.201-77G= (n.201-77G=)
c.103G= (p.Ala35=)
c.226G= (p.Ala76=)
c.*125G= (n.*125G=)
c.172G= (p.Ala58=)
c.142G= (p.Ala48=)
c.169G= (p.Ala57=)
c.346G= (n.346G=)
c.335G=
6g.137206283C>GCA365775911IFNGR1c.196G>C (p.Ala66Pro)
c.201-77G>C (n.201-77G>C)
c.103G>C (p.Ala35Pro)
c.226G>C (p.Ala76Pro)
c.*125G>C (n.*125G>C)
c.172G>C (p.Ala58Pro)
c.142G>C (p.Ala48Pro)
c.169G>C (p.Ala57Pro)
c.346G>C (n.346G>C)
c.335G>C
6g.137206283C>TCA148230938IFNGR1c.196G>A (p.Ala66Thr)
c.201-77G>A (n.201-77G>A)
c.103G>A (p.Ala35Thr)
c.226G>A (p.Ala76Thr)
c.*125G>A (n.*125G>A)
c.172G>A (p.Ala58Thr)
c.142G>A (p.Ala48Thr)
c.169G>A (p.Ala57Thr)
c.346G>A (n.346G>A)
c.335G>A
dbSNP gnomAD v3 gnomAD v4
6g.137206284A>CCA365775912IFNGR1c.195T>G (p.Asp65Glu)
c.201-78T>G (n.201-78T>G)
c.102T>G (p.Asp34Glu)
c.225T>G (p.Asp75Glu)
c.*124T>G (n.*124T>G)
c.171T>G (p.Asp57Glu)
c.141T>G (p.Asp47Glu)
c.168T>G (p.Asp56Glu)
c.345T>G (n.345T>G)
c.334T>G
6g.137206284A>GCA452236979IFNGR1c.195T>C (p.Asp65=)
c.201-78T>C (n.201-78T>C)
c.102T>C (p.Asp34=)
c.225T>C (p.Asp75=)
c.*124T>C (n.*124T>C)
c.171T>C (p.Asp57=)
c.141T>C (p.Asp47=)
c.168T>C (p.Asp56=)
c.345T>C (n.345T>C)
c.334T>C
gnomAD v4
6g.137206284A>TCA365775913IFNGR1c.195T>A (p.Asp65Glu)
c.201-78T>A (n.201-78T>A)
c.102T>A (p.Asp34Glu)
c.225T>A (p.Asp75Glu)
c.*124T>A (n.*124T>A)
c.171T>A (p.Asp57Glu)
c.141T>A (p.Asp47Glu)
c.168T>A (p.Asp56Glu)
c.345T>A (n.345T>A)
c.334T>A
6g.137206285T>ACA4019007IFNGR1c.194A>T (p.Asp65Val)
c.201-79A>T (n.201-79A>T)
c.101A>T (p.Asp34Val)
c.224A>T (p.Asp75Val)
c.*123A>T (n.*123A>T)
c.170A>T (p.Asp57Val)
c.140A>T (p.Asp47Val)
c.167A>T (p.Asp56Val)
c.344A>T (n.344A>T)
c.333A>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.137206285T>CCA4019006IFNGR1c.194A>G (p.Asp65Gly)
c.201-79A>G (n.201-79A>G)
c.101A>G (p.Asp34Gly)
c.224A>G (p.Asp75Gly)
c.*123A>G (n.*123A>G)
c.170A>G (p.Asp57Gly)
c.140A>G (p.Asp47Gly)
c.167A>G (p.Asp56Gly)
c.344A>G (n.344A>G)
c.333A>G
dbSNP ExAC gnomAD v2 gnomAD v4
6g.137206285T>GCA365775914IFNGR1c.194A>C (p.Asp65Ala)
c.201-79A>C (n.201-79A>C)
c.101A>C (p.Asp34Ala)
c.224A>C (p.Asp75Ala)
c.*123A>C (n.*123A>C)
c.170A>C (p.Asp57Ala)
c.140A>C (p.Asp47Ala)
c.167A>C (p.Asp56Ala)
c.344A>C (n.344A>C)
c.333A>C
dbSNP
6g.137206285T=CA1666386064IFNGR1c.194A= (p.Asp65=)
c.201-79A= (n.201-79A=)
c.101A= (p.Asp34=)
c.224A= (p.Asp75=)
c.*123A= (n.*123A=)
c.170A= (p.Asp57=)
c.140A= (p.Asp47=)
c.167A= (p.Asp56=)
c.344A= (n.344A=)
c.333A=
6g.137206286C>ACA365775917IFNGR1c.193G>T (p.Asp65Tyr)
c.201-80G>T (n.201-80G>T)
c.100G>T (p.Asp34Tyr)
c.223G>T (p.Asp75Tyr)
c.*122G>T (n.*122G>T)
c.169G>T (p.Asp57Tyr)
c.139G>T (p.Asp47Tyr)
c.166G>T (p.Asp56Tyr)
c.343G>T (n.343G>T)
c.332G>T
dbSNP
6g.137206286C>GCA365775916IFNGR1c.193G>C (p.Asp65His)
c.201-80G>C (n.201-80G>C)
c.100G>C (p.Asp34His)
c.223G>C (p.Asp75His)
c.*122G>C (n.*122G>C)
c.169G>C (p.Asp57His)
c.139G>C (p.Asp47His)
c.166G>C (p.Asp56His)
c.343G>C (n.343G>C)
c.332G>C
dbSNP
6g.137206286C>TCA365775915IFNGR1c.193G>A (p.Asp65Asn)
c.201-80G>A (n.201-80G>A)
c.100G>A (p.Asp34Asn)
c.223G>A (p.Asp75Asn)
c.*122G>A (n.*122G>A)
c.169G>A (p.Asp57Asn)
c.139G>A (p.Asp47Asn)
c.166G>A (p.Asp56Asn)
c.343G>A (n.343G>A)
c.332G>A
COSMIC COSMIC
6g.137206287A=CA1666386065IFNGR1c.192T= (p.Ile64=)
c.201-81T= (n.201-81T=)
c.99T= (p.Ile33=)
c.222T= (p.Ile74=)
c.*121T= (n.*121T=)
c.168T= (p.Ile56=)
c.138T= (p.Ile46=)
c.165T= (p.Ile55=)
c.342T= (n.342T=)
c.331T=
6g.137206287A>CCA365775918IFNGR1c.192T>G (p.Ile64Met)
c.201-81T>G (n.201-81T>G)
c.99T>G (p.Ile33Met)
c.222T>G (p.Ile74Met)
c.*121T>G (n.*121T>G)
c.168T>G (p.Ile56Met)
c.138T>G (p.Ile46Met)
c.165T>G (p.Ile55Met)
c.342T>G (n.342T>G)
c.331T>G
6g.137206287A>GCA452236980IFNGR1c.192T>C (p.Ile64=)
c.201-81T>C (n.201-81T>C)
c.99T>C (p.Ile33=)
c.222T>C (p.Ile74=)
c.*121T>C (n.*121T>C)
c.168T>C (p.Ile56=)
c.138T>C (p.Ile46=)
c.165T>C (p.Ile55=)
c.342T>C (n.342T>C)
c.331T>C
gnomAD v4
6g.137206287A>TCA4019008IFNGR1c.192T>A (p.Ile64=)
c.201-81T>A (n.201-81T>A)
c.99T>A (p.Ile33=)
c.222T>A (p.Ile74=)
c.*121T>A (n.*121T>A)
c.168T>A (p.Ile56=)
c.138T>A (p.Ile46=)
c.165T>A (p.Ile55=)
c.342T>A (n.342T>A)
c.331T>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.137206288A>CCA365775919IFNGR1c.191T>G (p.Ile64Ser)
c.201-82T>G (n.201-82T>G)
c.98T>G (p.Ile33Ser)
c.221T>G (p.Ile74Ser)
c.*120T>G (n.*120T>G)
c.167T>G (p.Ile56Ser)
c.137T>G (p.Ile46Ser)
c.164T>G (p.Ile55Ser)
c.341T>G (n.341T>G)
c.330T>G
6g.137206288A>GCA365775920IFNGR1c.191T>C (p.Ile64Thr)
c.201-82T>C (n.201-82T>C)
c.98T>C (p.Ile33Thr)
c.221T>C (p.Ile74Thr)
c.*120T>C (n.*120T>C)
c.167T>C (p.Ile56Thr)
c.137T>C (p.Ile46Thr)
c.164T>C (p.Ile55Thr)
c.341T>C (n.341T>C)
c.330T>C
6g.137206288A>TCA365775921IFNGR1c.191T>A (p.Ile64Asn)
c.201-82T>A (n.201-82T>A)
c.98T>A (p.Ile33Asn)
c.221T>A (p.Ile74Asn)
c.*120T>A (n.*120T>A)
c.167T>A (p.Ile56Asn)
c.137T>A (p.Ile46Asn)
c.164T>A (p.Ile55Asn)
c.341T>A (n.341T>A)
c.330T>A
6g.137206289T>ACA365775922IFNGR1c.190A>T (p.Ile64Phe)
c.201-83A>T (n.201-83A>T)
c.97A>T (p.Ile33Phe)
c.220A>T (p.Ile74Phe)
c.*119A>T (n.*119A>T)
c.166A>T (p.Ile56Phe)
c.136A>T (p.Ile46Phe)
c.163A>T (p.Ile55Phe)
c.340A>T (n.340A>T)
c.329A>T
6g.137206289T>CCA365775923IFNGR1c.190A>G (p.Ile64Val)
c.201-83A>G (n.201-83A>G)
c.97A>G (p.Ile33Val)
c.220A>G (p.Ile74Val)
c.*119A>G (n.*119A>G)
c.166A>G (p.Ile56Val)
c.136A>G (p.Ile46Val)
c.163A>G (p.Ile55Val)
c.340A>G (n.340A>G)
c.329A>G
6g.137206289T>GCA365775924IFNGR1c.190A>C (p.Ile64Leu)
c.201-83A>C (n.201-83A>C)
c.97A>C (p.Ile33Leu)
c.220A>C (p.Ile74Leu)
c.*119A>C (n.*119A>C)
c.166A>C (p.Ile56Leu)
c.136A>C (p.Ile46Leu)
c.163A>C (p.Ile55Leu)
c.340A>C (n.340A>C)
c.329A>C
6g.137206290C>ACA365775925IFNGR1c.189G>T (p.Trp63Cys)
c.201-84G>T (n.201-84G>T)
c.96G>T (p.Trp32Cys)
c.219G>T (p.Trp73Cys)
c.*118G>T (n.*118G>T)
c.165G>T (p.Trp55Cys)
c.135G>T (p.Trp45Cys)
c.162G>T (p.Trp54Cys)
c.339G>T (n.339G>T)
c.328G>T
6g.137206290C>GCA365775926IFNGR1c.189G>C (p.Trp63Cys)
c.201-84G>C (n.201-84G>C)
c.96G>C (p.Trp32Cys)
c.219G>C (p.Trp73Cys)
c.*118G>C (n.*118G>C)
c.165G>C (p.Trp55Cys)
c.135G>C (p.Trp45Cys)
c.162G>C (p.Trp54Cys)
c.339G>C (n.339G>C)
c.328G>C
6g.137206290C>TCA365775927IFNGR1c.189G>A (p.Trp63Ter)
c.201-84G>A (n.201-84G>A)
c.96G>A (p.Trp32Ter)
c.219G>A (p.Trp73Ter)
c.*118G>A (n.*118G>A)
c.165G>A (p.Trp55Ter)
c.135G>A (p.Trp45Ter)
c.162G>A (p.Trp54Ter)
c.339G>A (n.339G>A)
c.328G>A
6g.137206290_137206291delCA2680500280IFNGR1c.188_189del (p.Trp63TyrfsTer2)
c.201-85_201-84del (n.201-85_201-84del)
c.95_96del (p.Trp32TyrfsTer2)
c.218_219del (p.Trp73TyrfsTer2)
c.*117_*118del (n.*117_*118del)
c.164_165del (p.Trp55TyrfsTer2)
c.134_135del (p.Trp45TyrfsTer2)
c.161_162del (p.Trp54TyrfsTer2)
c.338_339del (n.338_339del)
c.327_328del
gnomAD v4
6g.137206291C>ACA365775928IFNGR1c.188G>T (p.Trp63Leu)
c.201-85G>T (n.201-85G>T)
c.95G>T (p.Trp32Leu)
c.218G>T (p.Trp73Leu)
c.*117G>T (n.*117G>T)
c.164G>T (p.Trp55Leu)
c.134G>T (p.Trp45Leu)
c.161G>T (p.Trp54Leu)
c.338G>T (n.338G>T)
c.327G>T
6g.137206291C>GCA365775929IFNGR1c.188G>C (p.Trp63Ser)
c.201-85G>C (n.201-85G>C)
c.95G>C (p.Trp32Ser)
c.218G>C (p.Trp73Ser)
c.*117G>C (n.*117G>C)
c.164G>C (p.Trp55Ser)
c.134G>C (p.Trp45Ser)
c.161G>C (p.Trp54Ser)
c.338G>C (n.338G>C)
c.327G>C
6g.137206291C>TCA365775930IFNGR1c.188G>A (p.Trp63Ter)
c.201-85G>A (n.201-85G>A)
c.95G>A (p.Trp32Ter)
c.218G>A (p.Trp73Ter)
c.*117G>A (n.*117G>A)
c.164G>A (p.Trp55Ter)
c.134G>A (p.Trp45Ter)
c.161G>A (p.Trp54Ter)
c.338G>A (n.338G>A)
c.327G>A
ClinVar
6g.137206292A>CCA365775933IFNGR1c.187T>G (p.Trp63Gly)
c.201-86T>G (n.201-86T>G)
c.94T>G (p.Trp32Gly)
c.217T>G (p.Trp73Gly)
c.*116T>G (n.*116T>G)
c.163T>G (p.Trp55Gly)
c.133T>G (p.Trp45Gly)
c.160T>G (p.Trp54Gly)
c.337T>G (n.337T>G)
c.326T>G
6g.137206292A>GCA365775932IFNGR1c.187T>C (p.Trp63Arg)
c.201-86T>C (n.201-86T>C)
c.94T>C (p.Trp32Arg)
c.217T>C (p.Trp73Arg)
c.*116T>C (n.*116T>C)
c.163T>C (p.Trp55Arg)
c.133T>C (p.Trp45Arg)
c.160T>C (p.Trp54Arg)
c.337T>C (n.337T>C)
c.326T>C
gnomAD v4
6g.137206292A>TCA365775931IFNGR1c.187T>A (p.Trp63Arg)
c.201-86T>A (n.201-86T>A)
c.94T>A (p.Trp32Arg)
c.217T>A (p.Trp73Arg)
c.*116T>A (n.*116T>A)
c.163T>A (p.Trp55Arg)
c.133T>A (p.Trp45Arg)
c.160T>A (p.Trp54Arg)
c.337T>A (n.337T>A)
c.326T>A
6g.137206293T>ACA365775934IFNGR1c.186A>T (p.Glu62Asp)
c.201-87A>T (n.201-87A>T)
c.93A>T (p.Glu31Asp)
c.216A>T (p.Glu72Asp)
c.*115A>T (n.*115A>T)
c.162A>T (p.Glu54Asp)
c.132A>T (p.Glu44Asp)
c.159A>T (p.Glu53Asp)
c.336A>T (n.336A>T)
c.325A>T
6g.137206293T>CCA4019009IFNGR1c.186A>G (p.Glu62=)
c.201-87A>G (n.201-87A>G)
c.93A>G (p.Glu31=)
c.216A>G (p.Glu72=)
c.*115A>G (n.*115A>G)
c.162A>G (p.Glu54=)
c.132A>G (p.Glu44=)
c.159A>G (p.Glu53=)
c.336A>G (n.336A>G)
c.325A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.137206293T>GCA365775935IFNGR1c.186A>C (p.Glu62Asp)
c.201-87A>C (n.201-87A>C)
c.93A>C (p.Glu31Asp)
c.216A>C (p.Glu72Asp)
c.*115A>C (n.*115A>C)
c.162A>C (p.Glu54Asp)
c.132A>C (p.Glu44Asp)
c.159A>C (p.Glu53Asp)
c.336A>C (n.336A>C)
c.325A>C
6g.137206293T=CA1666386066IFNGR1c.186A= (p.Glu62=)
c.201-87A= (n.201-87A=)
c.93A= (p.Glu31=)
c.216A= (p.Glu72=)
c.*115A= (n.*115A=)
c.162A= (p.Glu54=)
c.132A= (p.Glu44=)
c.159A= (p.Glu53=)
c.336A= (n.336A=)
c.325A=

Number of alleles fetched