UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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 |