Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.137206153A= | CA1666386021 | IFNGR1 | c.326T= (p.Phe109=) c.254T= (p.Phe85=) c.233T= (p.Phe78=) c.356T= (p.Phe119=) c.*255T= (n.*255T=) c.302T= (p.Phe101=) c.272T= (p.Phe91=) c.299T= (p.Phe100=) c.476T= (n.476T=) c.465T= | |
6 | g.137206153A>C | CA365775615 | IFNGR1 | c.326T>G (p.Phe109Cys) c.254T>G (p.Phe85Cys) c.233T>G (p.Phe78Cys) c.356T>G (p.Phe119Cys) c.*255T>G (n.*255T>G) c.302T>G (p.Phe101Cys) c.272T>G (p.Phe91Cys) c.299T>G (p.Phe100Cys) c.476T>G (n.476T>G) c.465T>G | |
6 | g.137206153A>G | CA365775616 | IFNGR1 | c.326T>C (p.Phe109Ser) c.254T>C (p.Phe85Ser) c.233T>C (p.Phe78Ser) c.356T>C (p.Phe119Ser) c.*255T>C (n.*255T>C) c.302T>C (p.Phe101Ser) c.272T>C (p.Phe91Ser) c.299T>C (p.Phe100Ser) c.476T>C (n.476T>C) c.465T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.137206153A>T | CA365775617 | IFNGR1 | c.326T>A (p.Phe109Tyr) c.254T>A (p.Phe85Tyr) c.233T>A (p.Phe78Tyr) c.356T>A (p.Phe119Tyr) c.*255T>A (n.*255T>A) c.302T>A (p.Phe101Tyr) c.272T>A (p.Phe91Tyr) c.299T>A (p.Phe100Tyr) c.476T>A (n.476T>A) c.465T>A | gnomAD v4 |
6 | g.137206154A= | CA1666386022 | IFNGR1 | c.325T= (p.Phe109=) c.253T= (p.Phe85=) c.232T= (p.Phe78=) c.355T= (p.Phe119=) c.*254T= (n.*254T=) c.301T= (p.Phe101=) c.271T= (p.Phe91=) c.298T= (p.Phe100=) c.475T= (n.475T=) c.464T= | |
6 | g.137206154A>C | CA365775618 | IFNGR1 | c.325T>G (p.Phe109Val) c.253T>G (p.Phe85Val) c.232T>G (p.Phe78Val) c.355T>G (p.Phe119Val) c.*254T>G (n.*254T>G) c.301T>G (p.Phe101Val) c.271T>G (p.Phe91Val) c.298T>G (p.Phe100Val) c.475T>G (n.475T>G) c.464T>G | |
6 | g.137206154A>G | CA365775619 | IFNGR1 | c.325T>C (p.Phe109Leu) c.253T>C (p.Phe85Leu) c.232T>C (p.Phe78Leu) c.355T>C (p.Phe119Leu) c.*254T>C (n.*254T>C) c.301T>C (p.Phe101Leu) c.271T>C (p.Phe91Leu) c.298T>C (p.Phe100Leu) c.475T>C (n.475T>C) c.464T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.137206154A>T | CA365775620 | IFNGR1 | c.325T>A (p.Phe109Ile) c.253T>A (p.Phe85Ile) c.232T>A (p.Phe78Ile) c.355T>A (p.Phe119Ile) c.*254T>A (n.*254T>A) c.301T>A (p.Phe101Ile) c.271T>A (p.Phe91Ile) c.298T>A (p.Phe100Ile) c.475T>A (n.475T>A) c.464T>A | |
6 | g.137206155T>A | CA365775622 | IFNGR1 | c.324A>T (p.Glu108Asp) c.252A>T (p.Glu84Asp) c.231A>T (p.Glu77Asp) c.354A>T (p.Glu118Asp) c.*253A>T (n.*253A>T) c.300A>T (p.Glu100Asp) c.270A>T (p.Glu90Asp) c.297A>T (p.Glu99Asp) c.474A>T (n.474A>T) c.463A>T | |
6 | g.137206155T>C | CA452236890 | IFNGR1 | c.324A>G (p.Glu108=) c.252A>G (p.Glu84=) c.231A>G (p.Glu77=) c.354A>G (p.Glu118=) c.*253A>G (n.*253A>G) c.300A>G (p.Glu100=) c.270A>G (p.Glu90=) c.297A>G (p.Glu99=) c.474A>G (n.474A>G) c.463A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.137206155T>G | CA365775621 | IFNGR1 | c.324A>C (p.Glu108Asp) c.252A>C (p.Glu84Asp) c.231A>C (p.Glu77Asp) c.354A>C (p.Glu118Asp) c.*253A>C (n.*253A>C) c.300A>C (p.Glu100Asp) c.270A>C (p.Glu90Asp) c.297A>C (p.Glu99Asp) c.474A>C (n.474A>C) c.463A>C | |
6 | g.137206155T= | CA1666386023 | IFNGR1 | c.324A= (p.Glu108=) c.252A= (p.Glu84=) c.231A= (p.Glu77=) c.354A= (p.Glu118=) c.*253A= (n.*253A=) c.300A= (p.Glu100=) c.270A= (p.Glu90=) c.297A= (p.Glu99=) c.474A= (n.474A=) c.463A= | |
6 | g.137206156T>A | CA365775623 | IFNGR1 | c.323A>T (p.Glu108Val) c.251A>T (p.Glu84Val) c.230A>T (p.Glu77Val) c.353A>T (p.Glu118Val) c.*252A>T (n.*252A>T) c.299A>T (p.Glu100Val) c.269A>T (p.Glu90Val) c.296A>T (p.Glu99Val) c.473A>T (n.473A>T) c.462A>T | |
6 | g.137206156T>C | CA365775625 | IFNGR1 | c.323A>G (p.Glu108Gly) c.251A>G (p.Glu84Gly) c.230A>G (p.Glu77Gly) c.353A>G (p.Glu118Gly) c.*252A>G (n.*252A>G) c.299A>G (p.Glu100Gly) c.269A>G (p.Glu90Gly) c.296A>G (p.Glu99Gly) c.473A>G (n.473A>G) c.462A>G | |
6 | g.137206156T>G | CA365775624 | IFNGR1 | c.323A>C (p.Glu108Ala) c.251A>C (p.Glu84Ala) c.230A>C (p.Glu77Ala) c.353A>C (p.Glu118Ala) c.*252A>C (n.*252A>C) c.299A>C (p.Glu100Ala) c.269A>C (p.Glu90Ala) c.296A>C (p.Glu99Ala) c.473A>C (n.473A>C) c.462A>C | |
6 | g.137206157C>A | CA365775626 | IFNGR1 | c.322G>T (p.Glu108Ter) c.250G>T (p.Glu84Ter) c.229G>T (p.Glu77Ter) c.352G>T (p.Glu118Ter) c.*251G>T (n.*251G>T) c.298G>T (p.Glu100Ter) c.268G>T (p.Glu90Ter) c.295G>T (p.Glu99Ter) c.472G>T (n.472G>T) c.461G>T | |
6 | g.137206157C>G | CA365775627 | IFNGR1 | c.322G>C (p.Glu108Gln) c.250G>C (p.Glu84Gln) c.229G>C (p.Glu77Gln) c.352G>C (p.Glu118Gln) c.*251G>C (n.*251G>C) c.298G>C (p.Glu100Gln) c.268G>C (p.Glu90Gln) c.295G>C (p.Glu99Gln) c.472G>C (n.472G>C) c.461G>C | |
6 | g.137206157C>T | CA365775628 | IFNGR1 | c.322G>A (p.Glu108Lys) c.250G>A (p.Glu84Lys) c.229G>A (p.Glu77Lys) c.352G>A (p.Glu118Lys) c.*251G>A (n.*251G>A) c.298G>A (p.Glu100Lys) c.268G>A (p.Glu90Lys) c.295G>A (p.Glu99Lys) c.472G>A (n.472G>A) c.461G>A | |
6 | g.137206158T>A | CA365775629 | IFNGR1 | c.321A>T (p.Glu107Asp) c.249A>T (p.Glu83Asp) c.228A>T (p.Glu76Asp) c.351A>T (p.Glu117Asp) c.*250A>T (n.*250A>T) c.297A>T (p.Glu99Asp) c.267A>T (p.Glu89Asp) c.294A>T (p.Glu98Asp) c.471A>T (n.471A>T) c.460A>T | |
6 | g.137206158T>C | CA452236891 | IFNGR1 | c.321A>G (p.Glu107=) c.249A>G (p.Glu83=) c.228A>G (p.Glu76=) c.351A>G (p.Glu117=) c.*250A>G (n.*250A>G) c.297A>G (p.Glu99=) c.267A>G (p.Glu89=) c.294A>G (p.Glu98=) c.471A>G (n.471A>G) c.460A>G | |
6 | g.137206158T>G | CA365775630 | IFNGR1 | c.321A>C (p.Glu107Asp) c.249A>C (p.Glu83Asp) c.228A>C (p.Glu76Asp) c.351A>C (p.Glu117Asp) c.*250A>C (n.*250A>C) c.297A>C (p.Glu99Asp) c.267A>C (p.Glu89Asp) c.294A>C (p.Glu98Asp) c.471A>C (n.471A>C) c.460A>C | |
6 | g.137206159T>A | CA365775631 | IFNGR1 | c.320A>T (p.Glu107Val) c.248A>T (p.Glu83Val) c.227A>T (p.Glu76Val) c.350A>T (p.Glu117Val) c.*249A>T (n.*249A>T) c.296A>T (p.Glu99Val) c.266A>T (p.Glu89Val) c.293A>T (p.Glu98Val) c.470A>T (n.470A>T) c.459A>T | |
6 | g.137206159T>C | CA365775632 | IFNGR1 | c.320A>G (p.Glu107Gly) c.248A>G (p.Glu83Gly) c.227A>G (p.Glu76Gly) c.350A>G (p.Glu117Gly) c.*249A>G (n.*249A>G) c.296A>G (p.Glu99Gly) c.266A>G (p.Glu89Gly) c.293A>G (p.Glu98Gly) c.470A>G (n.470A>G) c.459A>G | |
6 | g.137206159T>G | CA365775633 | IFNGR1 | c.320A>C (p.Glu107Ala) c.248A>C (p.Glu83Ala) c.227A>C (p.Glu76Ala) c.350A>C (p.Glu117Ala) c.*249A>C (n.*249A>C) c.296A>C (p.Glu99Ala) c.266A>C (p.Glu89Ala) c.293A>C (p.Glu98Ala) c.470A>C (n.470A>C) c.459A>C | |
6 | g.137206160C>A | CA365775634 | IFNGR1 | c.319G>T (p.Glu107Ter) c.247G>T (p.Glu83Ter) c.226G>T (p.Glu76Ter) c.349G>T (p.Glu117Ter) c.*248G>T (n.*248G>T) c.295G>T (p.Glu99Ter) c.265G>T (p.Glu89Ter) c.292G>T (p.Glu98Ter) c.469G>T (n.469G>T) c.458G>T | |
6 | g.137206160C>G | CA365775635 | IFNGR1 | c.319G>C (p.Glu107Gln) c.247G>C (p.Glu83Gln) c.226G>C (p.Glu76Gln) c.349G>C (p.Glu117Gln) c.*248G>C (n.*248G>C) c.295G>C (p.Glu99Gln) c.265G>C (p.Glu89Gln) c.292G>C (p.Glu98Gln) c.469G>C (n.469G>C) c.458G>C | |
6 | g.137206160C>T | CA365775636 | IFNGR1 | c.319G>A (p.Glu107Lys) c.247G>A (p.Glu83Lys) c.226G>A (p.Glu76Lys) c.349G>A (p.Glu117Lys) c.*248G>A (n.*248G>A) c.295G>A (p.Glu99Lys) c.265G>A (p.Glu89Lys) c.292G>A (p.Glu98Lys) c.469G>A (n.469G>A) c.458G>A | |
6 | g.137206161T>A | CA452236892 | IFNGR1 | c.318A>T (p.Ser106=) c.246A>T (p.Ser82=) c.225A>T (p.Ser75=) c.348A>T (p.Ser116=) c.*247A>T (n.*247A>T) c.294A>T (p.Ser98=) c.264A>T (p.Ser88=) c.291A>T (p.Ser97=) c.468A>T (n.468A>T) c.457A>T | |
6 | g.137206161T>C | CA452236893 | IFNGR1 | c.318A>G (p.Ser106=) c.246A>G (p.Ser82=) c.225A>G (p.Ser75=) c.348A>G (p.Ser116=) c.*247A>G (n.*247A>G) c.294A>G (p.Ser98=) c.264A>G (p.Ser88=) c.291A>G (p.Ser97=) c.468A>G (n.468A>G) c.457A>G | |
6 | g.137206161T>G | CA452236894 | IFNGR1 | c.318A>C (p.Ser106=) c.246A>C (p.Ser82=) c.225A>C (p.Ser75=) c.348A>C (p.Ser116=) c.*247A>C (n.*247A>C) c.294A>C (p.Ser98=) c.264A>C (p.Ser88=) c.291A>C (p.Ser97=) c.468A>C (n.468A>C) c.457A>C | |
6 | g.137206162G>A | CA365775638 | IFNGR1 | c.317C>T (p.Ser106Leu) c.245C>T (p.Ser82Leu) c.224C>T (p.Ser75Leu) c.347C>T (p.Ser116Leu) c.*246C>T (n.*246C>T) c.293C>T (p.Ser98Leu) c.263C>T (p.Ser88Leu) c.290C>T (p.Ser97Leu) c.467C>T (n.467C>T) c.456C>T | |
6 | g.137206162G>C | CA365775637 | IFNGR1 | c.317C>G (p.Ser106Ter) c.245C>G (p.Ser82Ter) c.224C>G (p.Ser75Ter) c.347C>G (p.Ser116Ter) c.*246C>G (n.*246C>G) c.293C>G (p.Ser98Ter) c.263C>G (p.Ser88Ter) c.290C>G (p.Ser97Ter) c.467C>G (n.467C>G) c.456C>G | |
6 | g.137206162G= | CA1666386024 | IFNGR1 | c.317C= (p.Ser106=) c.245C= (p.Ser82=) c.224C= (p.Ser75=) c.347C= (p.Ser116=) c.*246C= (n.*246C=) c.293C= (p.Ser98=) c.263C= (p.Ser88=) c.290C= (p.Ser97=) c.467C= (n.467C=) c.456C= | |
6 | g.137206162G>T | CA148230822 | IFNGR1 | c.317C>A (p.Ser106Ter) c.245C>A (p.Ser82Ter) c.224C>A (p.Ser75Ter) c.347C>A (p.Ser116Ter) c.*246C>A (n.*246C>A) c.293C>A (p.Ser98Ter) c.263C>A (p.Ser88Ter) c.290C>A (p.Ser97Ter) c.467C>A (n.467C>A) c.456C>A | dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.137206163A>C | CA365775639 | IFNGR1 | c.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 | |
6 | g.137206163A>G | CA365775640 | IFNGR1 | c.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 | |
6 | g.137206163A>T | CA365775641 | IFNGR1 | c.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 |
6 | g.137206164C>A | CA365775642 | IFNGR1 | c.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 | |
6 | g.137206164C= | CA1666386025 | IFNGR1 | c.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= | |
6 | g.137206164C>G | CA365775643 | IFNGR1 | c.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 | |
6 | g.137206164C>T | CA4018993 | IFNGR1 | c.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 |
6 | g.137206165T>A | CA365775644 | IFNGR1 | c.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 | |
6 | g.137206165T>C | CA365775645 | IFNGR1 | c.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 | |
6 | g.137206165T>G | CA365775646 | IFNGR1 | c.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 | |
6 | g.137206166T>A | CA365775647 | IFNGR1 | c.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 | |
6 | g.137206166T>C | CA365775648 | IFNGR1 | c.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 | |
6 | g.137206166T>G | CA365775649 | IFNGR1 | c.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 | |
6 | g.137206167T>A | CA452236895 | IFNGR1 | c.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 | |
6 | g.137206167T>C | CA452236896 | IFNGR1 | c.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 | |
6 | g.137206167T>G | CA452236897 | IFNGR1 | c.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 |