Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.137206163A>CCA365775639IFNGR1c.316T>G (p.Ser106Ala)
c.244T>G (p.Ser82Ala)
c.223T>G (p.Ser75Ala)
c.346T>G (p.Ser116Ala)
c.*245T>G (n.*245T>G)
c.292T>G (p.Ser98Ala)
c.262T>G (p.Ser88Ala)
c.289T>G (p.Ser97Ala)
c.466T>G (n.466T>G)
c.455T>G
6g.137206163A>GCA365775640IFNGR1c.316T>C (p.Ser106Pro)
c.244T>C (p.Ser82Pro)
c.223T>C (p.Ser75Pro)
c.346T>C (p.Ser116Pro)
c.*245T>C (n.*245T>C)
c.292T>C (p.Ser98Pro)
c.262T>C (p.Ser88Pro)
c.289T>C (p.Ser97Pro)
c.466T>C (n.466T>C)
c.455T>C
6g.137206163A>TCA365775641IFNGR1c.316T>A (p.Ser106Thr)
c.244T>A (p.Ser82Thr)
c.223T>A (p.Ser75Thr)
c.346T>A (p.Ser116Thr)
c.*245T>A (n.*245T>A)
c.292T>A (p.Ser98Thr)
c.262T>A (p.Ser88Thr)
c.289T>A (p.Ser97Thr)
c.466T>A (n.466T>A)
c.455T>A
 dbSNP
6g.137206164C>ACA365775642IFNGR1c.315G>T (p.Lys105Asn)
c.243G>T (p.Lys81Asn)
c.222G>T (p.Lys74Asn)
c.345G>T (p.Lys115Asn)
c.*244G>T (n.*244G>T)
c.291G>T (p.Lys97Asn)
c.261G>T (p.Lys87Asn)
c.288G>T (p.Lys96Asn)
c.465G>T (n.465G>T)
c.454G>T
6g.137206164C=CA1666386025IFNGR1c.315G= (p.Lys105=)
c.243G= (p.Lys81=)
c.222G= (p.Lys74=)
c.345G= (p.Lys115=)
c.*244G= (n.*244G=)
c.291G= (p.Lys97=)
c.261G= (p.Lys87=)
c.288G= (p.Lys96=)
c.465G= (n.465G=)
c.454G=
6g.137206164C>GCA365775643IFNGR1c.315G>C (p.Lys105Asn)
c.243G>C (p.Lys81Asn)
c.222G>C (p.Lys74Asn)
c.345G>C (p.Lys115Asn)
c.*244G>C (n.*244G>C)
c.291G>C (p.Lys97Asn)
c.261G>C (p.Lys87Asn)
c.288G>C (p.Lys96Asn)
c.465G>C (n.465G>C)
c.454G>C
6g.137206164C>TCA4018993IFNGR1c.315G>A (p.Lys105=)
c.243G>A (p.Lys81=)
c.222G>A (p.Lys74=)
c.345G>A (p.Lys115=)
c.*244G>A (n.*244G>A)
c.291G>A (p.Lys97=)
c.261G>A (p.Lys87=)
c.288G>A (p.Lys96=)
c.465G>A (n.465G>A)
c.454G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.137206165T>ACA365775644IFNGR1c.314A>T (p.Lys105Met)
c.242A>T (p.Lys81Met)
c.221A>T (p.Lys74Met)
c.344A>T (p.Lys115Met)
c.*243A>T (n.*243A>T)
c.290A>T (p.Lys97Met)
c.260A>T (p.Lys87Met)
c.287A>T (p.Lys96Met)
c.464A>T (n.464A>T)
c.453A>T
6g.137206165T>CCA365775645IFNGR1c.314A>G (p.Lys105Arg)
c.242A>G (p.Lys81Arg)
c.221A>G (p.Lys74Arg)
c.344A>G (p.Lys115Arg)
c.*243A>G (n.*243A>G)
c.290A>G (p.Lys97Arg)
c.260A>G (p.Lys87Arg)
c.287A>G (p.Lys96Arg)
c.464A>G (n.464A>G)
c.453A>G
6g.137206165T>GCA365775646IFNGR1c.314A>C (p.Lys105Thr)
c.242A>C (p.Lys81Thr)
c.221A>C (p.Lys74Thr)
c.344A>C (p.Lys115Thr)
c.*243A>C (n.*243A>C)
c.290A>C (p.Lys97Thr)
c.260A>C (p.Lys87Thr)
c.287A>C (p.Lys96Thr)
c.464A>C (n.464A>C)
c.453A>C
6g.137206166T>ACA365775647IFNGR1c.313A>T (p.Lys105Ter)
c.241A>T (p.Lys81Ter)
c.220A>T (p.Lys74Ter)
c.343A>T (p.Lys115Ter)
c.*242A>T (n.*242A>T)
c.289A>T (p.Lys97Ter)
c.259A>T (p.Lys87Ter)
c.286A>T (p.Lys96Ter)
c.463A>T (n.463A>T)
c.452A>T
6g.137206166T>CCA365775648IFNGR1c.313A>G (p.Lys105Glu)
c.241A>G (p.Lys81Glu)
c.220A>G (p.Lys74Glu)
c.343A>G (p.Lys115Glu)
c.*242A>G (n.*242A>G)
c.289A>G (p.Lys97Glu)
c.259A>G (p.Lys87Glu)
c.286A>G (p.Lys96Glu)
c.463A>G (n.463A>G)
c.452A>G
6g.137206166T>GCA365775649IFNGR1c.313A>C (p.Lys105Gln)
c.241A>C (p.Lys81Gln)
c.220A>C (p.Lys74Gln)
c.343A>C (p.Lys115Gln)
c.*242A>C (n.*242A>C)
c.289A>C (p.Lys97Gln)
c.259A>C (p.Lys87Gln)
c.286A>C (p.Lys96Gln)
c.463A>C (n.463A>C)
c.452A>C
6g.137206167T>ACA452236895IFNGR1c.312A>T (p.Ala104=)
c.240A>T (p.Ala80=)
c.219A>T (p.Ala73=)
c.342A>T (p.Ala114=)
c.*241A>T (n.*241A>T)
c.288A>T (p.Ala96=)
c.258A>T (p.Ala86=)
c.285A>T (p.Ala95=)
c.462A>T (n.462A>T)
c.451A>T
6g.137206167T>CCA452236896IFNGR1c.312A>G (p.Ala104=)
c.240A>G (p.Ala80=)
c.219A>G (p.Ala73=)
c.342A>G (p.Ala114=)
c.*241A>G (n.*241A>G)
c.288A>G (p.Ala96=)
c.258A>G (p.Ala86=)
c.285A>G (p.Ala95=)
c.462A>G (n.462A>G)
c.451A>G
6g.137206167T>GCA452236897IFNGR1c.312A>C (p.Ala104=)
c.240A>C (p.Ala80=)
c.219A>C (p.Ala73=)
c.342A>C (p.Ala114=)
c.*241A>C (n.*241A>C)
c.288A>C (p.Ala96=)
c.258A>C (p.Ala86=)
c.285A>C (p.Ala95=)
c.462A>C (n.462A>C)
c.451A>C
6g.137206168G>ACA365775652IFNGR1c.311C>T (p.Ala104Val)
c.239C>T (p.Ala80Val)
c.218C>T (p.Ala73Val)
c.341C>T (p.Ala114Val)
c.*240C>T (n.*240C>T)
c.287C>T (p.Ala96Val)
c.257C>T (p.Ala86Val)
c.284C>T (p.Ala95Val)
c.461C>T (n.461C>T)
c.450C>T
 dbSNP
6g.137206168G>CCA365775651IFNGR1c.311C>G (p.Ala104Gly)
c.239C>G (p.Ala80Gly)
c.218C>G (p.Ala73Gly)
c.341C>G (p.Ala114Gly)
c.*240C>G (n.*240C>G)
c.287C>G (p.Ala96Gly)
c.257C>G (p.Ala86Gly)
c.284C>G (p.Ala95Gly)
c.461C>G (n.461C>G)
c.450C>G
6g.137206168G>TCA365775650IFNGR1c.311C>A (p.Ala104Glu)
c.239C>A (p.Ala80Glu)
c.218C>A (p.Ala73Glu)
c.341C>A (p.Ala114Glu)
c.*240C>A (n.*240C>A)
c.287C>A (p.Ala96Glu)
c.257C>A (p.Ala86Glu)
c.284C>A (p.Ala95Glu)
c.461C>A (n.461C>A)
c.450C>A
6g.137206169C>ACA365775653IFNGR1c.310G>T (p.Ala104Ser)
c.238G>T (p.Ala80Ser)
c.217G>T (p.Ala73Ser)
c.340G>T (p.Ala114Ser)
c.*239G>T (n.*239G>T)
c.286G>T (p.Ala96Ser)
c.256G>T (p.Ala86Ser)
c.283G>T (p.Ala95Ser)
c.460G>T (n.460G>T)
c.449G>T
6g.137206169C>GCA365775655IFNGR1c.310G>C (p.Ala104Pro)
c.238G>C (p.Ala80Pro)
c.217G>C (p.Ala73Pro)
c.340G>C (p.Ala114Pro)
c.*239G>C (n.*239G>C)
c.286G>C (p.Ala96Pro)
c.256G>C (p.Ala86Pro)
c.283G>C (p.Ala95Pro)
c.460G>C (n.460G>C)
c.449G>C
6g.137206169C>TCA365775654IFNGR1c.310G>A (p.Ala104Thr)
c.238G>A (p.Ala80Thr)
c.217G>A (p.Ala73Thr)
c.340G>A (p.Ala114Thr)
c.*239G>A (n.*239G>A)
c.286G>A (p.Ala96Thr)
c.256G>A (p.Ala86Thr)
c.283G>A (p.Ala95Thr)
c.460G>A (n.460G>A)
c.449G>A
 dbSNP
6g.137206170A>CCA365775656IFNGR1c.309T>G (p.Tyr103Ter)
c.237T>G (p.Tyr79Ter)
c.216T>G (p.Tyr72Ter)
c.339T>G (p.Tyr113Ter)
c.*238T>G (n.*238T>G)
c.285T>G (p.Tyr95Ter)
c.255T>G (p.Tyr85Ter)
c.282T>G (p.Tyr94Ter)
c.459T>G (n.459T>G)
c.448T>G
6g.137206170A>GCA452236898IFNGR1c.309T>C (p.Tyr103=)
c.237T>C (p.Tyr79=)
c.216T>C (p.Tyr72=)
c.339T>C (p.Tyr113=)
c.*238T>C (n.*238T>C)
c.285T>C (p.Tyr95=)
c.255T>C (p.Tyr85=)
c.282T>C (p.Tyr94=)
c.459T>C (n.459T>C)
c.448T>C
6g.137206170A>TCA365775657IFNGR1c.309T>A (p.Tyr103Ter)
c.237T>A (p.Tyr79Ter)
c.216T>A (p.Tyr72Ter)
c.339T>A (p.Tyr113Ter)
c.*238T>A (n.*238T>A)
c.285T>A (p.Tyr95Ter)
c.255T>A (p.Tyr85Ter)
c.282T>A (p.Tyr94Ter)
c.459T>A (n.459T>A)
c.448T>A
6g.137206171T>ACA365775658IFNGR1c.308A>T (p.Tyr103Phe)
c.236A>T (p.Tyr79Phe)
c.215A>T (p.Tyr72Phe)
c.338A>T (p.Tyr113Phe)
c.*237A>T (n.*237A>T)
c.284A>T (p.Tyr95Phe)
c.254A>T (p.Tyr85Phe)
c.281A>T (p.Tyr94Phe)
c.458A>T (n.458A>T)
c.447A>T
6g.137206171T>CCA365775659IFNGR1c.308A>G (p.Tyr103Cys)
c.236A>G (p.Tyr79Cys)
c.215A>G (p.Tyr72Cys)
c.338A>G (p.Tyr113Cys)
c.*237A>G (n.*237A>G)
c.284A>G (p.Tyr95Cys)
c.254A>G (p.Tyr85Cys)
c.281A>G (p.Tyr94Cys)
c.458A>G (n.458A>G)
c.447A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.137206171T>GCA365775660IFNGR1c.308A>C (p.Tyr103Ser)
c.236A>C (p.Tyr79Ser)
c.215A>C (p.Tyr72Ser)
c.338A>C (p.Tyr113Ser)
c.*237A>C (n.*237A>C)
c.284A>C (p.Tyr95Ser)
c.254A>C (p.Tyr85Ser)
c.281A>C (p.Tyr94Ser)
c.458A>C (n.458A>C)
c.447A>C
6g.137206171T=CA1666386026IFNGR1c.308A= (p.Tyr103=)
c.236A= (p.Tyr79=)
c.215A= (p.Tyr72=)
c.338A= (p.Tyr113=)
c.*237A= (n.*237A=)
c.284A= (p.Tyr95=)
c.254A= (p.Tyr85=)
c.281A= (p.Tyr94=)
c.458A= (n.458A=)
c.447A=
6g.137206172A>CCA365775661IFNGR1c.307T>G (p.Tyr103Asp)
c.235T>G (p.Tyr79Asp)
c.214T>G (p.Tyr72Asp)
c.337T>G (p.Tyr113Asp)
c.*236T>G (n.*236T>G)
c.283T>G (p.Tyr95Asp)
c.253T>G (p.Tyr85Asp)
c.280T>G (p.Tyr94Asp)
c.457T>G (n.457T>G)
c.446T>G
6g.137206172A>GCA365775662IFNGR1c.307T>C (p.Tyr103His)
c.235T>C (p.Tyr79His)
c.214T>C (p.Tyr72His)
c.337T>C (p.Tyr113His)
c.*236T>C (n.*236T>C)
c.283T>C (p.Tyr95His)
c.253T>C (p.Tyr85His)
c.280T>C (p.Tyr94His)
c.457T>C (n.457T>C)
c.446T>C
6g.137206172A>TCA365775663IFNGR1c.307T>A (p.Tyr103Asn)
c.235T>A (p.Tyr79Asn)
c.214T>A (p.Tyr72Asn)
c.337T>A (p.Tyr113Asn)
c.*236T>A (n.*236T>A)
c.283T>A (p.Tyr95Asn)
c.253T>A (p.Tyr85Asn)
c.280T>A (p.Tyr94Asn)
c.457T>A (n.457T>A)
c.446T>A
6g.137206173G>ACA4018994IFNGR1c.306C>T (p.Ala102=)
c.234C>T (p.Ala78=)
c.213C>T (p.Ala71=)
c.336C>T (p.Ala112=)
c.*235C>T (n.*235C>T)
c.282C>T (p.Ala94=)
c.252C>T (p.Ala84=)
c.279C>T (p.Ala93=)
c.456C>T (n.456C>T)
c.445C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.137206173G>CCA452236899IFNGR1c.306C>G (p.Ala102=)
c.234C>G (p.Ala78=)
c.213C>G (p.Ala71=)
c.336C>G (p.Ala112=)
c.*235C>G (n.*235C>G)
c.282C>G (p.Ala94=)
c.252C>G (p.Ala84=)
c.279C>G (p.Ala93=)
c.456C>G (n.456C>G)
c.445C>G
6g.137206173G=CA1666386027IFNGR1c.306C= (p.Ala102=)
c.234C= (p.Ala78=)
c.213C= (p.Ala71=)
c.336C= (p.Ala112=)
c.*235C= (n.*235C=)
c.282C= (p.Ala94=)
c.252C= (p.Ala84=)
c.279C= (p.Ala93=)
c.456C= (n.456C=)
c.445C=
6g.137206173G>TCA452236900IFNGR1c.306C>A (p.Ala102=)
c.234C>A (p.Ala78=)
c.213C>A (p.Ala71=)
c.336C>A (p.Ala112=)
c.*235C>A (n.*235C>A)
c.282C>A (p.Ala94=)
c.252C>A (p.Ala84=)
c.279C>A (p.Ala93=)
c.456C>A (n.456C>A)
c.445C>A
6g.137206174G>ACA365775664IFNGR1c.305C>T (p.Ala102Val)
c.233C>T (p.Ala78Val)
c.212C>T (p.Ala71Val)
c.335C>T (p.Ala112Val)
c.*234C>T (n.*234C>T)
c.281C>T (p.Ala94Val)
c.251C>T (p.Ala84Val)
c.278C>T (p.Ala93Val)
c.455C>T (n.455C>T)
c.444C>T
 dbSNP
6g.137206174G>CCA365775665IFNGR1c.305C>G (p.Ala102Gly)
c.233C>G (p.Ala78Gly)
c.212C>G (p.Ala71Gly)
c.335C>G (p.Ala112Gly)
c.*234C>G (n.*234C>G)
c.281C>G (p.Ala94Gly)
c.251C>G (p.Ala84Gly)
c.278C>G (p.Ala93Gly)
c.455C>G (n.455C>G)
c.444C>G
 dbSNP gnomAD v2 gnomAD v4
6g.137206174G=CA1666386028IFNGR1c.305C= (p.Ala102=)
c.233C= (p.Ala78=)
c.212C= (p.Ala71=)
c.335C= (p.Ala112=)
c.*234C= (n.*234C=)
c.281C= (p.Ala94=)
c.251C= (p.Ala84=)
c.278C= (p.Ala93=)
c.455C= (n.455C=)
c.444C=
6g.137206174G>TCA365775666IFNGR1c.305C>A (p.Ala102Asp)
c.233C>A (p.Ala78Asp)
c.212C>A (p.Ala71Asp)
c.335C>A (p.Ala112Asp)
c.*234C>A (n.*234C>A)
c.281C>A (p.Ala94Asp)
c.251C>A (p.Ala84Asp)
c.278C>A (p.Ala93Asp)
c.455C>A (n.455C>A)
c.444C>A
6g.137206175C>ACA365775669IFNGR1c.304G>T (p.Ala102Ser)
c.232G>T (p.Ala78Ser)
c.211G>T (p.Ala71Ser)
c.334G>T (p.Ala112Ser)
c.*233G>T (n.*233G>T)
c.280G>T (p.Ala94Ser)
c.250G>T (p.Ala84Ser)
c.277G>T (p.Ala93Ser)
c.454G>T (n.454G>T)
c.443G>T
6g.137206175C>GCA365775667IFNGR1c.304G>C (p.Ala102Pro)
c.232G>C (p.Ala78Pro)
c.211G>C (p.Ala71Pro)
c.334G>C (p.Ala112Pro)
c.*233G>C (n.*233G>C)
c.280G>C (p.Ala94Pro)
c.250G>C (p.Ala84Pro)
c.277G>C (p.Ala93Pro)
c.454G>C (n.454G>C)
c.443G>C
6g.137206175C>TCA365775668IFNGR1c.304G>A (p.Ala102Thr)
c.232G>A (p.Ala78Thr)
c.211G>A (p.Ala71Thr)
c.334G>A (p.Ala112Thr)
c.*233G>A (n.*233G>A)
c.280G>A (p.Ala94Thr)
c.250G>A (p.Ala84Thr)
c.277G>A (p.Ala93Thr)
c.454G>A (n.454G>A)
c.443G>A
6g.137206176A>CCA452236901IFNGR1c.303T>G (p.Ser101=)
c.231T>G (p.Ser77=)
c.210T>G (p.Ser70=)
c.333T>G (p.Ser111=)
c.*232T>G (n.*232T>G)
c.279T>G (p.Ser93=)
c.249T>G (p.Ser83=)
c.276T>G (p.Ser92=)
c.453T>G (n.453T>G)
c.442T>G
6g.137206176A>GCA452236902IFNGR1c.303T>C (p.Ser101=)
c.231T>C (p.Ser77=)
c.210T>C (p.Ser70=)
c.333T>C (p.Ser111=)
c.*232T>C (n.*232T>C)
c.279T>C (p.Ser93=)
c.249T>C (p.Ser83=)
c.276T>C (p.Ser92=)
c.453T>C (n.453T>C)
c.442T>C
 gnomAD v4
6g.137206176A>TCA452236903IFNGR1c.303T>A (p.Ser101=)
c.231T>A (p.Ser77=)
c.210T>A (p.Ser70=)
c.333T>A (p.Ser111=)
c.*232T>A (n.*232T>A)
c.279T>A (p.Ser93=)
c.249T>A (p.Ser83=)
c.276T>A (p.Ser92=)
c.453T>A (n.453T>A)
c.442T>A
6g.137206177G>ACA365775670IFNGR1c.302C>T (p.Ser101Phe)
c.230C>T (p.Ser77Phe)
c.209C>T (p.Ser70Phe)
c.332C>T (p.Ser111Phe)
c.*231C>T (n.*231C>T)
c.278C>T (p.Ser93Phe)
c.248C>T (p.Ser83Phe)
c.275C>T (p.Ser92Phe)
c.452C>T (n.452C>T)
c.441C>T
6g.137206177G>CCA365775671IFNGR1c.302C>G (p.Ser101Cys)
c.230C>G (p.Ser77Cys)
c.209C>G (p.Ser70Cys)
c.332C>G (p.Ser111Cys)
c.*231C>G (n.*231C>G)
c.278C>G (p.Ser93Cys)
c.248C>G (p.Ser83Cys)
c.275C>G (p.Ser92Cys)
c.452C>G (n.452C>G)
c.441C>G
 COSMIC COSMIC
6g.137206177G>TCA365775672IFNGR1c.302C>A (p.Ser101Tyr)
c.230C>A (p.Ser77Tyr)
c.209C>A (p.Ser70Tyr)
c.332C>A (p.Ser111Tyr)
c.*231C>A (n.*231C>A)
c.278C>A (p.Ser93Tyr)
c.248C>A (p.Ser83Tyr)
c.275C>A (p.Ser92Tyr)
c.452C>A (n.452C>A)
c.441C>A
6g.137206178A>CCA365775673IFNGR1c.301T>G (p.Ser101Ala)
c.229T>G (p.Ser77Ala)
c.208T>G (p.Ser70Ala)
c.331T>G (p.Ser111Ala)
c.*230T>G (n.*230T>G)
c.277T>G (p.Ser93Ala)
c.247T>G (p.Ser83Ala)
c.274T>G (p.Ser92Ala)
c.451T>G (n.451T>G)
c.440T>G

Number of alleles fetched