| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |