Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.137206193C>A | CA365775707 | IFNGR1 | c.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 | |
6 | g.137206193C>G | CA365775708 | IFNGR1 | c.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 | |
6 | g.137206193C>T | CA365775709 | IFNGR1 | c.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 |
6 | g.137206194C>A | CA365775710 | IFNGR1 | c.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 |
6 | g.137206194C= | CA1666386033 | IFNGR1 | c.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= | |
6 | g.137206194C>G | CA365775711 | IFNGR1 | c.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 |
6 | g.137206194C>T | CA452236912 | IFNGR1 | c.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 |
6 | g.137206195C>A | CA365775712 | IFNGR1 | c.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 | |
6 | g.137206195C>G | CA365775714 | IFNGR1 | c.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 | |
6 | g.137206195C>T | CA365775713 | IFNGR1 | c.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 | |
6 | g.137206196T>A | CA365775715 | IFNGR1 | c.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 | |
6 | g.137206196T>C | CA365775716 | IFNGR1 | c.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 | |
6 | g.137206196T>G | CA452236913 | IFNGR1 | c.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 | |
6 | g.137206197G>A | CA452236914 | IFNGR1 | c.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 | |
6 | g.137206197G>C | CA452236916 | IFNGR1 | c.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 | |
6 | g.137206197G>T | CA452236915 | IFNGR1 | c.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 | |
6 | g.137206198G>A | CA365775717 | IFNGR1 | c.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 | |
6 | g.137206198G>C | CA365775718 | IFNGR1 | c.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 |
6 | g.137206198G>T | CA365775719 | IFNGR1 | c.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 |
6 | g.137206199C>A | CA365775720 | IFNGR1 | c.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 | |
6 | g.137206199C>G | CA365775721 | IFNGR1 | c.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 |
6 | g.137206199C>T | CA365775722 | IFNGR1 | c.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 | |
6 | g.137206200T>A | CA365775723 | IFNGR1 | c.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 | |
6 | g.137206200T>C | CA452236918 | IFNGR1 | c.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 | |
6 | g.137206200T>G | CA365775724 | IFNGR1 | c.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 | |
6 | g.137206201T>A | CA365775725 | IFNGR1 | c.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 | |
6 | g.137206201T>C | CA365775726 | IFNGR1 | c.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 | |
6 | g.137206201T>G | CA365775727 | IFNGR1 | c.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 | |
6 | g.137206202T>A | CA365775730 | IFNGR1 | c.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 | |
6 | g.137206202T>C | CA365775729 | IFNGR1 | c.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 | |
6 | g.137206202T>G | CA365775728 | IFNGR1 | c.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 | |
6 | g.137206202_137206214delinsTAACTCTGACCCA | CA1666386034 | IFNGR1 | c.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 | |
6 | g.137206203A>C | CA452236920 | IFNGR1 | c.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 | |
6 | g.137206203A>G | CA452236921 | IFNGR1 | c.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 | |
6 | g.137206203A>T | CA452236922 | IFNGR1 | c.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 | |
6 | g.137206205_137206216del | CA127604 | IFNGR1 | c.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 |
6 | g.137206204A>C | CA365775731 | IFNGR1 | c.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 | |
6 | g.137206204A>G | CA365775732 | IFNGR1 | c.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 | |
6 | g.137206204A>T | CA365775733 | IFNGR1 | c.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 | |
6 | g.137206205C>A | CA365775734 | IFNGR1 | c.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 | |
6 | g.137206205C>G | CA365775735 | IFNGR1 | c.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 | |
6 | g.137206205C>T | CA365775736 | IFNGR1 | c.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 |
6 | g.137206206T>A | CA365775737 | IFNGR1 | c.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 | |
6 | g.137206206T>C | CA452236923 | IFNGR1 | c.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 |
6 | g.137206206T>G | CA365775738 | IFNGR1 | c.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 | |
6 | g.137206206T= | CA1666386035 | IFNGR1 | c.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= | |
6 | g.137206207C>A | CA365775739 | IFNGR1 | c.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 | |
6 | g.137206207C>G | CA365775740 | IFNGR1 | c.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 |
6 | g.137206207C>T | CA365775741 | IFNGR1 | c.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 | |
6 | g.137206208T>A | CA365775744 | IFNGR1 | c.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 | |
6 | g.137206208T>C | CA365775743 | IFNGR1 | c.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 |
6 | g.137206208T>G | CA365775742 | IFNGR1 | c.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 | |
6 | g.137206209G>A | CA452236924 | IFNGR1 | c.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 | |
6 | g.137206209G>C | CA452236925 | IFNGR1 | c.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 |
6 | g.137206209G= | CA1666386036 | IFNGR1 | c.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= | |
6 | g.137206209G>T | CA452236926 | IFNGR1 | c.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 |
6 | g.137206210A>C | CA365775747 | IFNGR1 | c.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 | |
6 | g.137206210A>G | CA365775745 | IFNGR1 | c.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 | |
6 | g.137206210A>T | CA365775746 | IFNGR1 | c.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 | |
6 | g.137206211C>A | CA365775748 | IFNGR1 | c.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 | |
6 | g.137206211C>G | CA365775749 | IFNGR1 | c.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 | |
6 | g.137206211C>T | CA365775750 | IFNGR1 | c.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 | |
6 | g.137206212C>A | CA365775753 | IFNGR1 | c.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 |
6 | g.137206212C= | CA1666386037 | IFNGR1 | c.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= | |
6 | g.137206212C>G | CA365775752 | IFNGR1 | c.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 | |
6 | g.137206212C>T | CA365775751 | IFNGR1 | c.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 | |
6 | g.137206213C>A | CA365775754 | IFNGR1 | c.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 | |
6 | g.137206213C>G | CA365775755 | IFNGR1 | c.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 |
6 | g.137206213C>T | CA365775756 | IFNGR1 | c.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 | |
6 | g.137206214A= | CA1666386038 | IFNGR1 | c.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= | |
6 | g.137206214A>C | CA365775757 | IFNGR1 | c.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 | |
6 | g.137206214A>G | CA365775758 | IFNGR1 | c.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 |
6 | g.137206214A>T | CA365775759 | IFNGR1 | c.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 | |
6 | g.137206215A= | CA1666386039 | IFNGR1 | c.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= | |
6 | g.137206215A>C | CA452236929 | IFNGR1 | c.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 | |
6 | g.137206215A>G | CA452236930 | IFNGR1 | c.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 |
6 | g.137206215A>T | CA452236931 | IFNGR1 | c.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 | |
6 | g.137206216A>C | CA365775760 | IFNGR1 | c.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 | |
6 | g.137206216A>G | CA365775762 | IFNGR1 | c.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 | |
6 | g.137206216A>T | CA365775761 | IFNGR1 | c.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 | |
6 | g.137206219_137206220del | CA2680500278 | IFNGR1 | c.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 |
6 | g.137206217G>A | CA365775763 | IFNGR1 | c.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 |
6 | g.137206217G>C | CA365775764 | IFNGR1 | c.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 | |
6 | g.137206217G>T | CA365775765 | IFNGR1 | c.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 | |
6 | g.137206218A>C | CA452236932 | IFNGR1 | c.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 | |
6 | g.137206218A>G | CA452236933 | IFNGR1 | c.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 |
6 | g.137206218A>T | CA452236934 | IFNGR1 | c.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 | |
6 | g.137206219G>A | CA365775766 | IFNGR1 | c.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 | |
6 | g.137206219G>C | CA365775767 | IFNGR1 | c.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 |
6 | g.137206219G= | CA1666386040 | IFNGR1 | c.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= | |
6 | g.137206219G>T | CA365775768 | IFNGR1 | c.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 | |
6 | g.137206220A>C | CA365775769 | IFNGR1 | c.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 | |
6 | g.137206220A>G | CA365775770 | IFNGR1 | c.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 | |
6 | g.137206220A>T | CA365775771 | IFNGR1 | c.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 | |
6 | g.137206221A>C | CA365775772 | IFNGR1 | c.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 | |
6 | g.137206221A>G | CA452236943 | IFNGR1 | c.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 | |
6 | g.137206221A>T | CA365775773 | IFNGR1 | c.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 | |
6 | g.137206222T>A | CA365775775 | IFNGR1 | c.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 | |
6 | g.137206222T>C | CA365775776 | IFNGR1 | c.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 |
6 | g.137206222T>G | CA365775774 | IFNGR1 | c.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 | |
6 | g.137206223T>A | CA365775777 | IFNGR1 | c.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 | |
6 | g.137206223T>C | CA4018998 | IFNGR1 | c.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 |
6 | g.137206223T>G | CA365775778 | IFNGR1 | c.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 |
6 | g.137206223T= | CA1666386041 | IFNGR1 | c.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= | |
6 | g.137206224T>A | CA452236944 | IFNGR1 | c.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 | |
6 | g.137206224T>C | CA452236945 | IFNGR1 | c.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 |
6 | g.137206224T>G | CA452236946 | IFNGR1 | c.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 | |
6 | g.137206224T= | CA1666386042 | IFNGR1 | c.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= | |
6 | g.137206225G>A | CA365775779 | IFNGR1 | c.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 | |
6 | g.137206225G>C | CA365775780 | IFNGR1 | c.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 | |
6 | g.137206225G>T | CA365775781 | IFNGR1 | c.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 | |
6 | g.137206226A>C | CA365775782 | IFNGR1 | c.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 | |
6 | g.137206226A>G | CA365775783 | IFNGR1 | c.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 | |
6 | g.137206226A>T | CA365775784 | IFNGR1 | c.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 | |
6 | g.137206227T>A | CA452236947 | IFNGR1 | c.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 | |
6 | g.137206227T>C | CA452236949 | IFNGR1 | c.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 |
6 | g.137206227T>G | CA452236948 | IFNGR1 | c.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 | |
6 | g.137206227T= | CA1666386043 | IFNGR1 | c.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= | |
6 | g.137206228G>A | CA365775785 | IFNGR1 | c.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 | |
6 | g.137206228G>C | CA365775786 | IFNGR1 | c.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 | |
6 | g.137206228G>T | CA365775787 | IFNGR1 | c.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 | |
6 | g.137206229G>A | CA365775788 | IFNGR1 | c.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 |
6 | g.137206229G>C | CA365775789 | IFNGR1 | c.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 | |
6 | g.137206229G>T | CA365775790 | IFNGR1 | c.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 | |
6 | g.137206230A>C | CA365775791 | IFNGR1 | c.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 | |
6 | g.137206230A>G | CA452236950 | IFNGR1 | c.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 | |
6 | g.137206230A>T | CA365775792 | IFNGR1 | c.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 |
6 | g.137206231T>A | CA365775793 | IFNGR1 | c.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 | |
6 | g.137206231T>C | CA365775794 | IFNGR1 | c.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 | |
6 | g.137206231T>G | CA365775795 | IFNGR1 | c.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 | |
6 | g.137206232C>A | CA365775796 | IFNGR1 | c.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 |
6 | g.137206232C= | CA1666386044 | IFNGR1 | c.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= | |
6 | g.137206232C>G | CA365775797 | IFNGR1 | c.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 | |
6 | g.137206232C>T | CA365775798 | IFNGR1 | c.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 |
6 | g.137206233A>C | CA452236951 | IFNGR1 | c.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 | |
6 | g.137206233A>G | CA452236952 | IFNGR1 | c.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 |
6 | g.137206233A>T | CA452236953 | IFNGR1 | c.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 | |
6 | g.137206234C>A | CA365775799 | IFNGR1 | c.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 | |
6 | g.137206234C= | CA1666386045 | IFNGR1 | c.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= | |
6 | g.137206234C>G | CA365775800 | IFNGR1 | c.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 | |
6 | g.137206234C>T | CA4018999 | IFNGR1 | c.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 |
6 | g.137206235C>A | CA365775801 | IFNGR1 | c.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 | |
6 | g.137206235C>G | CA365775802 | IFNGR1 | c.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 | |
6 | g.137206235C>T | CA365775803 | IFNGR1 | c.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 | |
6 | g.137206236A= | CA1666386046 | IFNGR1 | c.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= | |
6 | g.137206236A>C | CA452236954 | IFNGR1 | c.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 |
6 | g.137206236A>G | CA452236955 | IFNGR1 | c.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 | |
6 | g.137206236A>T | CA452236956 | IFNGR1 | c.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 | |
6 | g.137206237A>C | CA365775804 | IFNGR1 | c.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 | |
6 | g.137206237A>G | CA365775806 | IFNGR1 | c.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 | |
6 | g.137206237A>T | CA365775805 | IFNGR1 | c.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 | |
6 | g.137206238C>A | CA365775807 | IFNGR1 | c.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 | |
6 | g.137206238C= | CA1666386047 | IFNGR1 | c.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= | |
6 | g.137206238C>G | CA365775808 | IFNGR1 | c.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 | |
6 | g.137206238C>T | CA365775809 | IFNGR1 | c.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 |
6 | g.137206239A>C | CA365775810 | IFNGR1 | c.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 | |
6 | g.137206239A>G | CA452236957 | IFNGR1 | c.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 | |
6 | g.137206239A>T | CA365775811 | IFNGR1 | c.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 | |
6 | g.137206240T>A | CA365775812 | IFNGR1 | c.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 |
6 | g.137206240T>C | CA365775813 | IFNGR1 | c.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 | |
6 | g.137206240T>G | CA365775814 | IFNGR1 | c.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 | |
6 | g.137206241G>A | CA365775815 | IFNGR1 | c.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 |
6 | g.137206241G>C | CA365775816 | IFNGR1 | c.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 | |
6 | g.137206241G>T | CA365775817 | IFNGR1 | c.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 | |
6 | g.137206242A>C | CA365775818 | IFNGR1 | c.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 | |
6 | g.137206242A>G | CA452236958 | IFNGR1 | c.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 | |
6 | g.137206242A>T | CA365775819 | IFNGR1 | c.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 | |
6 | g.137206243T>A | CA365775820 | IFNGR1 | c.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 | |
6 | g.137206243T>C | CA365775822 | IFNGR1 | c.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 |
6 | g.137206243T>G | CA365775821 | IFNGR1 | c.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 | |
6 | g.137206244C>A | CA365775823 | IFNGR1 | c.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 | |
6 | g.137206244C= | CA1666386048 | IFNGR1 | c.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= | |
6 | g.137206244C>G | CA365775824 | IFNGR1 | c.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 | |
6 | g.137206244C>T | CA365775825 | IFNGR1 | c.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 |
6 | g.137206245A>C | CA452236959 | IFNGR1 | c.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 | |
6 | g.137206245A>G | CA452236960 | IFNGR1 | c.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 |
6 | g.137206245A>T | CA452236961 | IFNGR1 | c.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 | |
6 | g.137206254_137206274dup | CA570587332 | IFNGR1 | c.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 |
6 | g.137206246G>A | CA365775826 | IFNGR1 | c.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 | |
6 | g.137206246G>C | CA365775827 | IFNGR1 | c.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 | |
6 | g.137206246G>T | CA365775828 | IFNGR1 | c.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 | |
6 | g.137206247A>C | CA365775829 | IFNGR1 | c.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 | |
6 | g.137206247A>G | CA365775830 | IFNGR1 | c.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 | |
6 | g.137206247A>T | CA365775831 | IFNGR1 | c.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 | |
6 | g.137206248A>C | CA365775832 | IFNGR1 | c.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 | |
6 | g.137206248A>G | CA452236962 | IFNGR1 | c.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 | |
6 | g.137206248A>T | CA452236963 | IFNGR1 | c.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 | |
6 | g.137206249A= | CA1666386049 | IFNGR1 | c.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= | |
6 | g.137206249A>C | CA365775834 | IFNGR1 | c.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 | |
6 | g.137206249A>G | CA127599 | IFNGR1 | c.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 |
6 | g.137206249A>T | CA365775833 | IFNGR1 | c.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 | |
6 | g.137206250T>A | CA365775837 | IFNGR1 | c.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 | |
6 | g.137206250T>C | CA365775835 | IFNGR1 | c.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 | |
6 | g.137206250T>G | CA365775836 | IFNGR1 | c.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 | |
6 | g.137206251A= | CA1666386050 | IFNGR1 | c.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= | |
6 | g.137206251A>C | CA365775838 | IFNGR1 | c.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 | |
6 | g.137206251A>G | CA4019000 | IFNGR1 | c.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 |
6 | g.137206251A>T | CA365775839 | IFNGR1 | c.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 | |
6 | g.137206252T>A | CA365775840 | IFNGR1 | c.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 | |
6 | g.137206252T>C | CA4019001 | IFNGR1 | c.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 |
6 | g.137206252T>G | CA365775841 | IFNGR1 | c.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 | |
6 | g.137206252T= | CA1666386051 | IFNGR1 | c.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= | |
6 | g.137206253T>A | CA365775842 | IFNGR1 | c.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 | |
6 | g.137206253T>C | CA365775843 | IFNGR1 | c.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 | |
6 | g.137206253T>G | CA365775844 | IFNGR1 | c.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 | |
6 | g.137206254A>C | CA365775845 | IFNGR1 | c.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 | |
6 | g.137206254A>G | CA452236964 | IFNGR1 | c.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 | |
6 | g.137206254A>T | CA365775846 | IFNGR1 | c.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 | |
6 | g.137206255C>A | CA365775849 | IFNGR1 | c.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 | |
6 | g.137206255C>G | CA365775848 | IFNGR1 | c.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 | |
6 | g.137206255C>T | CA365775847 | IFNGR1 | c.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 | |
6 | g.137206256A>C | CA365775850 | IFNGR1 | c.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 | |
6 | g.137206256A>G | CA365775851 | IFNGR1 | c.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 | |
6 | g.137206256A>T | CA365775852 | IFNGR1 | c.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 | |
6 | g.137206259_137206261del | CA2680500279 | IFNGR1 | c.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 |
6 | g.137206257A>C | CA365775853 | IFNGR1 | c.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 |
6 | g.137206257A>G | CA452236965 | IFNGR1 | c.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 |
6 | g.137206257A>T | CA365775854 | IFNGR1 | c.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 | |
6 | g.137206258T>A | CA148230886 | IFNGR1 | c.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 |
6 | g.137206258T>C | CA4019002 | IFNGR1 | c.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 |
6 | g.137206258T>G | CA365775855 | IFNGR1 | c.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 | |
6 | g.137206258T= | CA1666386052 | IFNGR1 | c.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= | |
6 | g.137206259A= | CA1666386053 | IFNGR1 | c.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= | |
6 | g.137206259A>C | CA365775856 | IFNGR1 | c.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 | |
6 | g.137206259A>G | CA4019003 | IFNGR1 | c.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 |
6 | g.137206259A>T | CA365775857 | IFNGR1 | c.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 | |
6 | g.137206260A>C | CA365775858 | IFNGR1 | c.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 | |
6 | g.137206260A>G | CA452236966 | IFNGR1 | c.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 | |
6 | g.137206260A>T | CA365775859 | IFNGR1 | c.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 | |
6 | g.137206261T>A | CA365775861 | IFNGR1 | c.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 | |
6 | g.137206261T>C | CA365775862 | IFNGR1 | c.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 |
6 | g.137206261T>G | CA365775860 | IFNGR1 | c.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 | |
6 | g.137206261T= | CA1666386054 | IFNGR1 | c.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= | |
6 | g.137206262G>A | CA365775863 | IFNGR1 | c.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 | |
6 | g.137206262G>C | CA365775864 | IFNGR1 | c.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 | |
6 | g.137206262G>T | CA365775865 | IFNGR1 | c.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 |
6 | g.137206263A= | CA1666386055 | IFNGR1 | c.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= | |
6 | g.137206263A>C | CA365775866 | IFNGR1 | c.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 | |
6 | g.137206263A>G | CA148230902 | IFNGR1 | c.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 |
6 | g.137206263A>T | CA365775867 | IFNGR1 | c.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 | |
6 | g.137206264T>A | CA365775868 | IFNGR1 | c.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 | |
6 | g.137206264T>C | CA365775869 | IFNGR1 | c.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 | |
6 | g.137206264T>G | CA365775870 | IFNGR1 | c.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 | |
6 | g.137206265G>A | CA365775871 | IFNGR1 | c.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 |
6 | g.137206265G>C | CA365775872 | IFNGR1 | c.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 |
6 | g.137206265G>T | CA365775873 | IFNGR1 | c.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 | |
6 | g.137206266A>C | CA452236967 | IFNGR1 | c.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 | |
6 | g.137206266A>G | CA452236968 | IFNGR1 | c.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 | |
6 | g.137206266A>T | CA452236969 | IFNGR1 | c.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 | |
6 | g.137206267G>A | CA365775876 | IFNGR1 | c.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 | |
6 | g.137206267G>C | CA365775874 | IFNGR1 | c.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 | |
6 | g.137206267G>T | CA365775875 | IFNGR1 | c.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 | |
6 | g.137206268A>C | CA365775877 | IFNGR1 | c.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 | |
6 | g.137206268A>G | CA365775878 | IFNGR1 | c.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 | |
6 | g.137206268A>T | CA365775879 | IFNGR1 | c.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 | |
6 | g.137206269A= | CA1666386056 | IFNGR1 | c.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= | |
6 | g.137206269A>C | CA365775880 | IFNGR1 | c.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 |
6 | g.137206269A>G | CA452236970 | IFNGR1 | c.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 | |
6 | g.137206269A>T | CA452236971 | IFNGR1 | c.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 | |
6 | g.137206270A>C | CA365775881 | IFNGR1 | c.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 | |
6 | g.137206270A>G | CA365775882 | IFNGR1 | c.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 |
6 | g.137206270A>T | CA365775883 | IFNGR1 | c.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 | |
6 | g.137206271T>A | CA365775884 | IFNGR1 | c.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 | |
6 | g.137206271T>C | CA365775885 | IFNGR1 | c.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 | |
6 | g.137206271T>G | CA365775886 | IFNGR1 | c.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 | |
6 | g.137206272A>C | CA365775887 | IFNGR1 | c.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 | |
6 | g.137206272A>G | CA452236972 | IFNGR1 | c.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 | |
6 | g.137206272A>T | CA365775888 | IFNGR1 | c.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 | |
6 | g.137206273T>A | CA365775890 | IFNGR1 | c.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 |
6 | g.137206273T>C | CA4019004 | IFNGR1 | c.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 |
6 | g.137206273T>G | CA365775889 | IFNGR1 | c.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 |
6 | g.137206273T= | CA1666386057 | IFNGR1 | c.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= | |
6 | g.137206274T>A | CA365775893 | IFNGR1 | c.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 | |
6 | g.137206274T>C | CA365775891 | IFNGR1 | c.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 |
6 | g.137206274T>G | CA365775892 | IFNGR1 | c.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 |
6 | g.137206275G>A | CA452236973 | IFNGR1 | c.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 |
6 | g.137206275G>C | CA365775894 | IFNGR1 | c.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 | |
6 | g.137206275G= | CA1666386058 | IFNGR1 | c.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= | |
6 | g.137206275G>T | CA452236974 | IFNGR1 | c.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 | |
6 | g.137206276A>C | CA365775895 | IFNGR1 | c.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 | |
6 | g.137206276A>G | CA365775896 | IFNGR1 | c.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 | |
6 | g.137206276A>T | CA365775897 | IFNGR1 | c.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 | |
6 | g.137206277T>A | CA365775900 | IFNGR1 | c.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 | |
6 | g.137206277T>C | CA365775898 | IFNGR1 | c.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 |
6 | g.137206277T>G | CA365775899 | IFNGR1 | c.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 | |
6 | g.137206277T= | CA1666386059 | IFNGR1 | c.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= | |
6 | g.137206278G>A | CA452236975 | IFNGR1 | c.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 |
6 | g.137206278G>C | CA365775901 | IFNGR1 | c.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 | |
6 | g.137206278G= | CA1666386060 | IFNGR1 | c.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= | |
6 | g.137206278G>T | CA365775902 | IFNGR1 | c.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 | |
6 | g.137206279C>A | CA365775903 | IFNGR1 | c.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 | |
6 | g.137206279C= | CA1666386061 | IFNGR1 | c.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= | |
6 | g.137206279C>G | CA365775904 | IFNGR1 | c.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 | |
6 | g.137206279C>T | CA127607 | IFNGR1 | c.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 |
6 | g.137206280A>C | CA365775905 | IFNGR1 | c.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 |
6 | g.137206280A>G | CA365775907 | IFNGR1 | c.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 | |
6 | g.137206280A>T | CA365775906 | IFNGR1 | c.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 | |
6 | g.137206281G>A | CA452236976 | IFNGR1 | c.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 | |
6 | g.137206281G>C | CA452236977 | IFNGR1 | c.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 | |
6 | g.137206281G>T | CA452236978 | IFNGR1 | c.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 |
6 | g.137206282G>A | CA4019005 | IFNGR1 | c.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 |
6 | g.137206282G>C | CA365775908 | IFNGR1 | c.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 |
6 | g.137206282G= | CA1666386062 | IFNGR1 | c.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= | |
6 | g.137206282G>T | CA365775909 | IFNGR1 | c.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 |
6 | g.137206283C>A | CA365775910 | IFNGR1 | c.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 |
6 | g.137206283C= | CA1666386063 | IFNGR1 | c.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= | |
6 | g.137206283C>G | CA365775911 | IFNGR1 | c.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 | |
6 | g.137206283C>T | CA148230938 | IFNGR1 | c.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 |
6 | g.137206284A>C | CA365775912 | IFNGR1 | c.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 | |
6 | g.137206284A>G | CA452236979 | IFNGR1 | c.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 |
6 | g.137206284A>T | CA365775913 | IFNGR1 | c.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 | |
6 | g.137206285T>A | CA4019007 | IFNGR1 | c.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 |
6 | g.137206285T>C | CA4019006 | IFNGR1 | c.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 |
6 | g.137206285T>G | CA365775914 | IFNGR1 | c.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 |
6 | g.137206285T= | CA1666386064 | IFNGR1 | c.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= | |
6 | g.137206286C>A | CA365775917 | IFNGR1 | c.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 |
6 | g.137206286C>G | CA365775916 | IFNGR1 | c.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 |
6 | g.137206286C>T | CA365775915 | IFNGR1 | c.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 |
6 | g.137206287A= | CA1666386065 | IFNGR1 | c.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= | |
6 | g.137206287A>C | CA365775918 | IFNGR1 | c.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 | |
6 | g.137206287A>G | CA452236980 | IFNGR1 | c.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 |
6 | g.137206287A>T | CA4019008 | IFNGR1 | c.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 |
6 | g.137206288A>C | CA365775919 | IFNGR1 | c.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 | |
6 | g.137206288A>G | CA365775920 | IFNGR1 | c.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 | |
6 | g.137206288A>T | CA365775921 | IFNGR1 | c.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 | |
6 | g.137206289T>A | CA365775922 | IFNGR1 | c.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 | |
6 | g.137206289T>C | CA365775923 | IFNGR1 | c.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 | |
6 | g.137206289T>G | CA365775924 | IFNGR1 | c.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 | |
6 | g.137206290C>A | CA365775925 | IFNGR1 | c.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 | |
6 | g.137206290C>G | CA365775926 | IFNGR1 | c.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 | |
6 | g.137206290C>T | CA365775927 | IFNGR1 | c.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 | |
6 | g.137206290_137206291del | CA2680500280 | IFNGR1 | c.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 |
6 | g.137206291C>A | CA365775928 | IFNGR1 | c.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 | |
6 | g.137206291C>G | CA365775929 | IFNGR1 | c.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 | |
6 | g.137206291C>T | CA365775930 | IFNGR1 | c.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 |
6 | g.137206292A>C | CA365775933 | IFNGR1 | c.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 | |
6 | g.137206292A>G | CA365775932 | IFNGR1 | c.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 |
6 | g.137206292A>T | CA365775931 | IFNGR1 | c.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 | |
6 | g.137206293T>A | CA365775934 | IFNGR1 | c.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 | |
6 | g.137206293T>C | CA4019009 | IFNGR1 | c.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 |
6 | g.137206293T>G | CA365775935 | IFNGR1 | c.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 | |
6 | g.137206293T= | CA1666386066 | IFNGR1 | c.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= |