Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.12192847_12192860delinsCCTCCTCCTCCTCCCA1148573419TNFRSF1Bc.552-16_552-3delinsCCTCCTCCTCCTCC (n.552-16_552-3delinsCCTCCTCCTCCTCC)
n.264-16_264-3delinsCCTCCTCCTCCTCC
n.541-16_541-3delinsCCTCCTCCTCCTCC
c.531-16_531-3delinsCCTCCTCCTCCTCC (n.531-16_531-3delinsCCTCCTCCTCCTCC)
c.-34-16_-34-3delinsCCTCCTCCTCCTCC (n.-34-16_-34-3delinsCCTCCTCCTCCTCC)
1g.12192858_12192860dupCA600818TNFRSF1Bc.552-5_552-3dup (n.552-5_552-3dup)
n.264-5_264-3dup
n.541-5_541-3dup
c.531-5_531-3dup (n.531-5_531-3dup)
c.-34-5_-34-3dup (n.-34-5_-34-3dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192858_12192860delCA600819TNFRSF1Bc.552-5_552-3del (n.552-5_552-3del)
n.264-5_264-3del
n.541-5_541-3del
c.531-5_531-3del (n.531-5_531-3del)
c.-34-5_-34-3del (n.-34-5_-34-3del)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.12192855_12192860delCA2643340360TNFRSF1Bc.552-8_552-3del (n.552-8_552-3del)
n.264-8_264-3del
n.541-8_541-3del
c.531-8_531-3del (n.531-8_531-3del)
c.-34-8_-34-3del (n.-34-8_-34-3del)
gnomAD v4
1g.12192853C>ACA2643340365TNFRSF1Bc.552-10C>A (n.552-10C>A)
n.264-10C>A
n.541-10C>A
c.531-10C>A (n.531-10C>A)
c.-34-10C>A (n.-34-10C>A)
gnomAD v4
1g.12192853C=CA1154001406TNFRSF1Bc.552-10C= (n.552-10C=)
n.264-10C=
n.541-10C=
c.531-10C= (n.531-10C=)
c.-34-10C= (n.-34-10C=)
1g.12192853C>TCA886552704TNFRSF1Bc.552-10C>T (n.552-10C>T)
n.264-10C>T
n.541-10C>T
c.531-10C>T (n.531-10C>T)
c.-34-10C>T (n.-34-10C>T)
dbSNP gnomAD v3 gnomAD v4
1g.12192854C>ACA2643340366TNFRSF1Bc.552-9C>A (n.552-9C>A)
n.264-9C>A
n.541-9C>A
c.531-9C>A (n.531-9C>A)
c.-34-9C>A (n.-34-9C>A)
gnomAD v4
1g.12192856C>ACA2643340367TNFRSF1Bc.552-7C>A (n.552-7C>A)
n.264-7C>A
n.541-7C>A
c.531-7C>A (n.531-7C>A)
c.-34-7C>A (n.-34-7C>A)
gnomAD v4
1g.12192856C>TCA2643340368TNFRSF1Bc.552-7C>T (n.552-7C>T)
n.264-7C>T
n.541-7C>T
c.531-7C>T (n.531-7C>T)
c.-34-7C>T (n.-34-7C>T)
gnomAD v4
1g.12192857C=CA1154001407TNFRSF1Bc.552-6C= (n.552-6C=)
n.264-6C=
n.541-6C=
c.531-6C= (n.531-6C=)
c.-34-6C= (n.-34-6C=)
1g.12192857C>TCA1154001408TNFRSF1Bc.552-6C>T (n.552-6C>T)
n.264-6C>T
n.541-6C>T
c.531-6C>T (n.531-6C>T)
c.-34-6C>T (n.-34-6C>T)
dbSNP gnomAD v4
1g.12192858delCA2574217700TNFRSF1Bc.552-5del (n.552-5del)
n.264-5del
n.541-5del
c.531-5del (n.531-5del)
c.-34-5del (n.-34-5del)
1g.12192859C>ACA600822TNFRSF1Bc.552-4C>A (n.552-4C>A)
n.264-4C>A
n.541-4C>A
c.531-4C>A (n.531-4C>A)
c.-34-4C>A (n.-34-4C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192859C=CA1148441681TNFRSF1Bc.552-4C= (n.552-4C=)
n.264-4C=
n.541-4C=
c.531-4C= (n.531-4C=)
c.-34-4C= (n.-34-4C=)
1g.12192859C>GCA2643340369TNFRSF1Bc.552-4C>G (n.552-4C>G)
n.264-4C>G
n.541-4C>G
c.531-4C>G (n.531-4C>G)
c.-34-4C>G (n.-34-4C>G)
gnomAD v4
1g.12192859C>TCA521456160TNFRSF1Bc.552-4C>T (n.552-4C>T)
n.264-4C>T
n.541-4C>T
c.531-4C>T (n.531-4C>T)
c.-34-4C>T (n.-34-4C>T)
dbSNP gnomAD v2
1g.12192861A>CCA338454892TNFRSF1Bc.552-2A>C (n.552-2A>C)
n.264-2A>C
n.541-2A>C
c.531-2A>C (n.531-2A>C)
c.-34-2A>C (n.-34-2A>C)
1g.12192861A>GCA338454894TNFRSF1Bc.552-2A>G (n.552-2A>G)
n.264-2A>G
n.541-2A>G
c.531-2A>G (n.531-2A>G)
c.-34-2A>G (n.-34-2A>G)
1g.12192861A>TCA338454893TNFRSF1Bc.552-2A>T (n.552-2A>T)
n.264-2A>T
n.541-2A>T
c.531-2A>T (n.531-2A>T)
c.-34-2A>T (n.-34-2A>T)
1g.12192862G>ACA338454895TNFRSF1Bc.552-1G>A (n.552-1G>A)
n.264-1G>A
n.541-1G>A
c.531-1G>A (n.531-1G>A)
c.-34-1G>A (n.-34-1G>A)
1g.12192862G>CCA338454897TNFRSF1Bc.552-1G>C (n.552-1G>C)
n.264-1G>C
n.541-1G>C
c.531-1G>C (n.531-1G>C)
c.-34-1G>C (n.-34-1G>C)
1g.12192862G>TCA338454896TNFRSF1Bc.552-1G>T (n.552-1G>T)
n.264-1G>T
n.541-1G>T
c.531-1G>T (n.531-1G>T)
c.-34-1G>T (n.-34-1G>T)
gnomAD v4
1g.12192863C>ACA416364707TNFRSF1Bc.552C>A (p.Ile184=)
n.264C>A
n.541C>A
c.531C>A (p.Ile177=)
c.-34C>A (n.-34C>A)
1g.12192863C=CA1154001409TNFRSF1Bc.552C= (p.Ile184=)
n.264C=
n.541C=
c.531C= (p.Ile177=)
c.-34C= (n.-34C=)
1g.12192863C>GCA338454898TNFRSF1Bc.552C>G (p.Ile184Met)
n.264C>G
n.541C>G
c.531C>G (p.Ile177Met)
c.-34C>G (n.-34C>G)
dbSNP gnomAD v2 gnomAD v4
1g.12192863C>TCA416364706TNFRSF1Bc.552C>T (p.Ile184=)
n.264C>T
n.541C>T
c.531C>T (p.Ile177=)
c.-34C>T (n.-34C>T)
1g.12192864T>ACA338454899TNFRSF1Bc.553T>A (p.Cys185Ser)
n.265T>A
n.542T>A
c.532T>A (p.Cys178Ser)
c.-33T>A (n.-33T>A)
1g.12192864T>CCA338454900TNFRSF1Bc.553T>C (p.Cys185Arg)
n.265T>C
n.542T>C
c.532T>C (p.Cys178Arg)
c.-33T>C (n.-33T>C)
gnomAD v4
1g.12192864T>GCA338454901TNFRSF1Bc.553T>G (p.Cys185Gly)
n.265T>G
n.542T>G
c.532T>G (p.Cys178Gly)
c.-33T>G (n.-33T>G)
1g.12192865G>ACA338454902TNFRSF1Bc.554G>A (p.Cys185Tyr)
n.266G>A
n.543G>A
c.533G>A (p.Cys178Tyr)
c.-32G>A (n.-32G>A)
1g.12192865G>CCA600823TNFRSF1Bc.554G>C (p.Cys185Ser)
n.266G>C
n.543G>C
c.533G>C (p.Cys178Ser)
c.-32G>C (n.-32G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.12192865G=CA1154001410TNFRSF1Bc.554G= (p.Cys185=)
n.266G=
n.543G=
c.533G= (p.Cys178=)
c.-32G= (n.-32G=)
1g.12192865G>TCA338454903TNFRSF1Bc.554G>T (p.Cys185Phe)
n.266G>T
n.543G>T
c.533G>T (p.Cys178Phe)
c.-32G>T (n.-32G>T)
1g.12192866T>ACA338454904TNFRSF1Bc.555T>A (p.Cys185Ter)
n.267T>A
n.544T>A
c.534T>A (p.Cys178Ter)
c.-31T>A (n.-31T>A)
1g.12192866T>CCA416364708TNFRSF1Bc.555T>C (p.Cys185=)
n.267T>C
n.544T>C
c.534T>C (p.Cys178=)
c.-31T>C (n.-31T>C)
gnomAD v4
1g.12192866T>GCA338454905TNFRSF1Bc.555T>G (p.Cys185Trp)
n.267T>G
n.544T>G
c.534T>G (p.Cys178Trp)
c.-31T>G (n.-31T>G)
dbSNP gnomAD v3 gnomAD v4
1g.12192866T=CA1154001411TNFRSF1Bc.555T= (p.Cys185=)
n.267T=
n.544T=
c.534T= (p.Cys178=)
c.-31T= (n.-31T=)
1g.12192867A>CCA338454906TNFRSF1Bc.556A>C (p.Asn186His)
n.268A>C
n.545A>C
c.535A>C (p.Asn179His)
c.-30A>C (n.-30A>C)
1g.12192867A>GCA338454907TNFRSF1Bc.556A>G (p.Asn186Asp)
n.268A>G
n.545A>G
c.535A>G (p.Asn179Asp)
c.-30A>G (n.-30A>G)
1g.12192867A>TCA338454908TNFRSF1Bc.556A>T (p.Asn186Tyr)
n.268A>T
n.545A>T
c.535A>T (p.Asn179Tyr)
c.-30A>T (n.-30A>T)
1g.12192868A>CCA338454909TNFRSF1Bc.557A>C (p.Asn186Thr)
n.269A>C
n.546A>C
c.536A>C (p.Asn179Thr)
c.-29A>C (n.-29A>C)
gnomAD v4
1g.12192868A>GCA338454911TNFRSF1Bc.557A>G (p.Asn186Ser)
n.269A>G
n.546A>G
c.536A>G (p.Asn179Ser)
c.-29A>G (n.-29A>G)
1g.12192868A>TCA338454910TNFRSF1Bc.557A>T (p.Asn186Ile)
n.269A>T
n.546A>T
c.536A>T (p.Asn179Ile)
c.-29A>T (n.-29A>T)
1g.12192869C>ACA338454912TNFRSF1Bc.558C>A (p.Asn186Lys)
n.270C>A
n.547C>A
c.537C>A (p.Asn179Lys)
c.-28C>A (n.-28C>A)
dbSNP gnomAD v2 gnomAD v4
1g.12192869C=CA1144966229TNFRSF1Bc.558C= (p.Asn186=)
n.270C=
n.547C=
c.537C= (p.Asn179=)
c.-28C= (n.-28C=)
1g.12192869C>GCA338454913TNFRSF1Bc.558C>G (p.Asn186Lys)
n.270C>G
n.547C>G
c.537C>G (p.Asn179Lys)
c.-28C>G (n.-28C>G)
1g.12192869C>TCA600824TNFRSF1Bc.558C>T (p.Asn186=)
n.270C>T
n.547C>T
c.537C>T (p.Asn179=)
c.-28C>T (n.-28C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192869_12192872delinsCGTGCA1154001412TNFRSF1Bc.558_561delinsCGTG (p.Asn186=)
n.270_273delinsCGTG
n.547_550delinsCGTG
c.537_540delinsCGTG (p.Asn179=)
c.-28_-25delinsCGTG (n.-28_-25delinsCGTG)
1g.12192870G>ACA600826TNFRSF1Bc.559G>A (p.Val187Met)
n.271G>A
n.548G>A
c.538G>A (p.Val180Met)
c.-27G>A (n.-27G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192870G>CCA338454914TNFRSF1Bc.559G>C (p.Val187Leu)
n.271G>C
n.548G>C
c.538G>C (p.Val180Leu)
c.-27G>C (n.-27G>C)
1g.12192870G=CA1139921333TNFRSF1Bc.559G= (p.Val187=)
n.271G=
n.548G=
c.538G= (p.Val180=)
c.-27G= (n.-27G=)
1g.12192870G>TCA338454915TNFRSF1Bc.559G>T (p.Val187Leu)
n.271G>T
n.548G>T
c.538G>T (p.Val180Leu)
c.-27G>T (n.-27G>T)
1g.12192874_12192876delCA600825TNFRSF1Bc.563_565del (p.Val188del)
n.275_277del
n.552_554del
c.542_544del (p.Val181del)
c.-23_-21del (n.-23_-21del)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.12192871T>ACA338454916TNFRSF1Bc.560T>A (p.Val187Glu)
n.272T>A
n.549T>A
c.539T>A (p.Val180Glu)
c.-26T>A (n.-26T>A)
dbSNP gnomAD v4
1g.12192871T>CCA600827TNFRSF1Bc.560T>C (p.Val187Ala)
n.272T>C
n.549T>C
c.539T>C (p.Val180Ala)
c.-26T>C (n.-26T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192871T>GCA338454917TNFRSF1Bc.560T>G (p.Val187Gly)
n.272T>G
n.549T>G
c.539T>G (p.Val180Gly)
c.-26T>G (n.-26T>G)
1g.12192871T=CA1148263909TNFRSF1Bc.560T= (p.Val187=)
n.272T=
n.549T=
c.539T= (p.Val180=)
c.-26T= (n.-26T=)
1g.12192872G>ACA416364709TNFRSF1Bc.561G>A (p.Val187=)
n.273G>A
n.550G>A
c.540G>A (p.Val180=)
c.-25G>A (n.-25G>A)
1g.12192872G>CCA416364710TNFRSF1Bc.561G>C (p.Val187=)
n.273G>C
n.550G>C
c.540G>C (p.Val180=)
c.-25G>C (n.-25G>C)
dbSNP gnomAD v2 gnomAD v4
1g.12192872G=CA1154001413TNFRSF1Bc.561G= (p.Val187=)
n.273G=
n.550G=
c.540G= (p.Val180=)
c.-25G= (n.-25G=)
1g.12192872G>TCA416364711TNFRSF1Bc.561G>T (p.Val187=)
n.273G>T
n.550G>T
c.540G>T (p.Val180=)
c.-25G>T (n.-25G>T)
1g.12192873G>ACA338454919TNFRSF1Bc.562G>A (p.Val188Met)
n.274G>A
n.551G>A
c.541G>A (p.Val181Met)
c.-24G>A (n.-24G>A)
1g.12192873G>CCA338454920TNFRSF1Bc.562G>C (p.Val188Leu)
n.274G>C
n.551G>C
c.541G>C (p.Val181Leu)
c.-24G>C (n.-24G>C)
1g.12192873G>TCA338454918TNFRSF1Bc.562G>T (p.Val188Leu)
n.274G>T
n.551G>T
c.541G>T (p.Val181Leu)
c.-24G>T (n.-24G>T)
1g.12192874T>ACA338454921TNFRSF1Bc.563T>A (p.Val188Glu)
n.275T>A
n.552T>A
c.542T>A (p.Val181Glu)
c.-23T>A (n.-23T>A)
1g.12192874T>CCA338454922TNFRSF1Bc.563T>C (p.Val188Ala)
n.275T>C
n.552T>C
c.542T>C (p.Val181Ala)
c.-23T>C (n.-23T>C)
1g.12192874T>GCA338454923TNFRSF1Bc.563T>G (p.Val188Gly)
n.275T>G
n.552T>G
c.542T>G (p.Val181Gly)
c.-23T>G (n.-23T>G)
1g.12192875G>ACA416364712TNFRSF1Bc.564G>A (p.Val188=)
n.276G>A
n.553G>A
c.543G>A (p.Val181=)
c.-22G>A (n.-22G>A)
1g.12192875G>CCA416364713TNFRSF1Bc.564G>C (p.Val188=)
n.276G>C
n.553G>C
c.543G>C (p.Val181=)
c.-22G>C (n.-22G>C)
1g.12192875G>TCA416364714TNFRSF1Bc.564G>T (p.Val188=)
n.276G>T
n.553G>T
c.543G>T (p.Val181=)
c.-22G>T (n.-22G>T)
1g.12192876G>ACA600828TNFRSF1Bc.565G>A (p.Ala189Thr)
n.277G>A
n.554G>A
c.544G>A (p.Ala182Thr)
c.-21G>A (n.-21G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192876G>CCA338454924TNFRSF1Bc.565G>C (p.Ala189Pro)
n.277G>C
n.554G>C
c.544G>C (p.Ala182Pro)
c.-21G>C (n.-21G>C)
1g.12192876G=CA1143405249TNFRSF1Bc.565G= (p.Ala189=)
n.277G=
n.554G=
c.544G= (p.Ala182=)
c.-21G= (n.-21G=)
1g.12192876G>TCA338454925TNFRSF1Bc.565G>T (p.Ala189Ser)
n.277G>T
n.554G>T
c.544G>T (p.Ala182Ser)
c.-21G>T (n.-21G>T)
dbSNP
1g.12192877C>ACA338454926TNFRSF1Bc.566C>A (p.Ala189Asp)
n.278C>A
n.555C>A
c.545C>A (p.Ala182Asp)
c.-20C>A (n.-20C>A)
gnomAD v4
1g.12192877C>GCA338454927TNFRSF1Bc.566C>G (p.Ala189Gly)
n.278C>G
n.555C>G
c.545C>G (p.Ala182Gly)
c.-20C>G (n.-20C>G)
1g.12192877C>TCA338454928TNFRSF1Bc.566C>T (p.Ala189Val)
n.278C>T
n.555C>T
c.545C>T (p.Ala182Val)
c.-20C>T (n.-20C>T)
gnomAD v4
1g.12192878C>ACA416364717TNFRSF1Bc.567C>A (p.Ala189=)
n.279C>A
n.556C>A
c.546C>A (p.Ala182=)
c.-19C>A (n.-19C>A)
1g.12192878C>GCA416364716TNFRSF1Bc.567C>G (p.Ala189=)
n.279C>G
n.556C>G
c.546C>G (p.Ala182=)
c.-19C>G (n.-19C>G)
1g.12192878C>TCA416364715TNFRSF1Bc.567C>T (p.Ala189=)
n.279C>T
n.556C>T
c.546C>T (p.Ala182=)
c.-19C>T (n.-19C>T)
1g.12192879A>CCA338454929TNFRSF1Bc.568A>C (p.Ile190Leu)
n.280A>C
n.557A>C
c.547A>C (p.Ile183Leu)
c.-18A>C (n.-18A>C)
1g.12192879A>GCA338454930TNFRSF1Bc.568A>G (p.Ile190Val)
n.280A>G
n.557A>G
c.547A>G (p.Ile183Val)
c.-18A>G (n.-18A>G)
1g.12192879A>TCA338454931TNFRSF1Bc.568A>T (p.Ile190Phe)
n.280A>T
n.557A>T
c.547A>T (p.Ile183Phe)
c.-18A>T (n.-18A>T)
1g.12192880T>ACA338454933TNFRSF1Bc.569T>A (p.Ile190Asn)
n.281T>A
n.558T>A
c.548T>A (p.Ile183Asn)
c.-17T>A (n.-17T>A)
gnomAD v4
1g.12192880T>CCA338454934TNFRSF1Bc.569T>C (p.Ile190Thr)
n.281T>C
n.558T>C
c.548T>C (p.Ile183Thr)
c.-17T>C (n.-17T>C)
1g.12192880T>GCA338454932TNFRSF1Bc.569T>G (p.Ile190Ser)
n.281T>G
n.558T>G
c.548T>G (p.Ile183Ser)
c.-17T>G (n.-17T>G)
1g.12192881C>ACA416364718TNFRSF1Bc.570C>A (p.Ile190=)
n.282C>A
n.559C>A
c.549C>A (p.Ile183=)
c.-16C>A (n.-16C>A)
1g.12192881C=CA1154001414TNFRSF1Bc.570C= (p.Ile190=)
n.282C=
n.559C=
c.549C= (p.Ile183=)
c.-16C= (n.-16C=)
1g.12192881C>GCA338454935TNFRSF1Bc.570C>G (p.Ile190Met)
n.282C>G
n.559C>G
c.549C>G (p.Ile183Met)
c.-16C>G (n.-16C>G)
1g.12192881C>TCA416364719TNFRSF1Bc.570C>T (p.Ile190=)
n.282C>T
n.559C>T
c.549C>T (p.Ile183=)
c.-16C>T (n.-16C>T)
dbSNP gnomAD v2
1g.12192882C>ACA338454936TNFRSF1Bc.571C>A (p.Pro191Thr)
n.283C>A
n.560C>A
c.550C>A (p.Pro184Thr)
c.-15C>A (n.-15C>A)
1g.12192882C=CA1154001415TNFRSF1Bc.571C= (p.Pro191=)
n.283C=
n.560C=
c.550C= (p.Pro184=)
c.-15C= (n.-15C=)
1g.12192882C>GCA600829TNFRSF1Bc.571C>G (p.Pro191Ala)
n.283C>G
n.560C>G
c.550C>G (p.Pro184Ala)
c.-15C>G (n.-15C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.12192882C>TCA338454937TNFRSF1Bc.571C>T (p.Pro191Ser)
n.283C>T
n.560C>T
c.550C>T (p.Pro184Ser)
c.-15C>T (n.-15C>T)
1g.12192883C>ACA338454940TNFRSF1Bc.572C>A (p.Pro191His)
n.284C>A
n.561C>A
c.551C>A (p.Pro184His)
c.-14C>A (n.-14C>A)
1g.12192883C>GCA338454939TNFRSF1Bc.572C>G (p.Pro191Arg)
n.284C>G
n.561C>G
c.551C>G (p.Pro184Arg)
c.-14C>G (n.-14C>G)
1g.12192883C>TCA338454938TNFRSF1Bc.572C>T (p.Pro191Leu)
n.284C>T
n.561C>T
c.551C>T (p.Pro184Leu)
c.-14C>T (n.-14C>T)
1g.12192884T>ACA416364720TNFRSF1Bc.573T>A (p.Pro191=)
n.285T>A
n.562T>A
c.552T>A (p.Pro184=)
c.-13T>A (n.-13T>A)
1g.12192884T>CCA416364721TNFRSF1Bc.573T>C (p.Pro191=)
n.285T>C
n.562T>C
c.552T>C (p.Pro184=)
c.-13T>C (n.-13T>C)
gnomAD v4
1g.12192884T>GCA18022029TNFRSF1Bc.573T>G (p.Pro191=)
n.285T>G
n.562T>G
c.552T>G (p.Pro184=)
c.-13T>G (n.-13T>G)
dbSNP gnomAD v4
1g.12192884T=CA1144994179TNFRSF1Bc.573T= (p.Pro191=)
n.285T=
n.562T=
c.552T= (p.Pro184=)
c.-13T= (n.-13T=)
1g.12192885G>ACA338454941TNFRSF1Bc.574G>A (p.Gly192Arg)
n.286G>A
n.563G>A
c.553G>A (p.Gly185Arg)
c.-12G>A (n.-12G>A)
1g.12192885G>CCA338454942TNFRSF1Bc.574G>C (p.Gly192Arg)
n.286G>C
n.563G>C
c.553G>C (p.Gly185Arg)
c.-12G>C (n.-12G>C)
1g.12192885G>TCA338454943TNFRSF1Bc.574G>T (p.Gly192Trp)
n.286G>T
n.563G>T
c.553G>T (p.Gly185Trp)
c.-12G>T (n.-12G>T)
1g.12192886G>ACA338454944TNFRSF1Bc.575G>A (p.Gly192Glu)
n.287G>A
n.564G>A
c.554G>A (p.Gly185Glu)
c.-11G>A (n.-11G>A)
1g.12192886G>CCA338454945TNFRSF1Bc.575G>C (p.Gly192Ala)
n.287G>C
n.564G>C
c.554G>C (p.Gly185Ala)
c.-11G>C (n.-11G>C)
1g.12192886G>TCA338454946TNFRSF1Bc.575G>T (p.Gly192Val)
n.287G>T
n.564G>T
c.554G>T (p.Gly185Val)
c.-11G>T (n.-11G>T)
1g.12192887G>ACA416364724TNFRSF1Bc.576G>A (p.Gly192=)
n.288G>A
n.565G>A
c.555G>A (p.Gly185=)
c.-10G>A (n.-10G>A)
gnomAD v4
1g.12192887G>CCA416364723TNFRSF1Bc.576G>C (p.Gly192=)
n.288G>C
n.565G>C
c.555G>C (p.Gly185=)
c.-10G>C (n.-10G>C)
1g.12192887G>TCA416364722TNFRSF1Bc.576G>T (p.Gly192=)
n.288G>T
n.565G>T
c.555G>T (p.Gly185=)
c.-10G>T (n.-10G>T)
1g.12192888A>CCA338454948TNFRSF1Bc.577A>C (p.Asn193His)
n.289A>C
n.566A>C
c.556A>C (p.Asn186His)
c.-9A>C (n.-9A>C)
1g.12192888A>GCA338454949TNFRSF1Bc.577A>G (p.Asn193Asp)
n.289A>G
n.566A>G
c.556A>G (p.Asn186Asp)
c.-9A>G (n.-9A>G)
1g.12192888A>TCA338454947TNFRSF1Bc.577A>T (p.Asn193Tyr)
n.289A>T
n.566A>T
c.556A>T (p.Asn186Tyr)
c.-9A>T (n.-9A>T)
1g.12192889A>CCA338454951TNFRSF1Bc.578A>C (p.Asn193Thr)
n.290A>C
n.567A>C
c.557A>C (p.Asn186Thr)
c.-8A>C (n.-8A>C)
gnomAD v4
1g.12192889A>GCA338454950TNFRSF1Bc.578A>G (p.Asn193Ser)
n.290A>G
n.567A>G
c.557A>G (p.Asn186Ser)
c.-8A>G (n.-8A>G)
1g.12192889A>TCA338454952TNFRSF1Bc.578A>T (p.Asn193Ile)
n.290A>T
n.567A>T
c.557A>T (p.Asn186Ile)
c.-8A>T (n.-8A>T)
1g.12192890T>ACA338454953TNFRSF1Bc.579T>A (p.Asn193Lys)
n.291T>A
n.568T>A
c.558T>A (p.Asn186Lys)
c.-7T>A (n.-7T>A)
1g.12192890T>CCA416364725TNFRSF1Bc.579T>C (p.Asn193=)
n.291T>C
n.568T>C
c.558T>C (p.Asn186=)
c.-7T>C (n.-7T>C)
1g.12192890T>GCA338454954TNFRSF1Bc.579T>G (p.Asn193Lys)
n.291T>G
n.568T>G
c.558T>G (p.Asn186Lys)
c.-7T>G (n.-7T>G)
gnomAD v4
1g.12192891G>ACA338454955TNFRSF1Bc.580G>A (p.Ala194Thr)
n.292G>A
n.569G>A
c.559G>A (p.Ala187Thr)
c.-6G>A (n.-6G>A)
1g.12192891G>CCA338454957TNFRSF1Bc.580G>C (p.Ala194Pro)
n.292G>C
n.569G>C
c.559G>C (p.Ala187Pro)
c.-6G>C (n.-6G>C)
1g.12192891G>TCA338454956TNFRSF1Bc.580G>T (p.Ala194Ser)
n.292G>T
n.569G>T
c.559G>T (p.Ala187Ser)
c.-6G>T (n.-6G>T)
1g.12192892C>ACA338454958TNFRSF1Bc.581C>A (p.Ala194Glu)
n.293C>A
n.570C>A
c.560C>A (p.Ala187Glu)
c.-5C>A (n.-5C>A)
1g.12192892C>GCA338454960TNFRSF1Bc.581C>G (p.Ala194Gly)
n.293C>G
n.570C>G
c.560C>G (p.Ala187Gly)
c.-5C>G (n.-5C>G)
1g.12192892C>TCA338454959TNFRSF1Bc.581C>T (p.Ala194Val)
n.293C>T
n.570C>T
c.560C>T (p.Ala187Val)
c.-5C>T (n.-5C>T)
gnomAD v4
1g.12192893A>CCA416364726TNFRSF1Bc.582A>C (p.Ala194=)
n.294A>C
n.571A>C
c.561A>C (p.Ala187=)
c.-4A>C (n.-4A>C)
1g.12192893A>GCA416364727TNFRSF1Bc.582A>G (p.Ala194=)
n.294A>G
n.571A>G
c.561A>G (p.Ala187=)
c.-4A>G (n.-4A>G)
1g.12192893A>TCA416364728TNFRSF1Bc.582A>T (p.Ala194=)
n.294A>T
n.571A>T
c.561A>T (p.Ala187=)
c.-4A>T (n.-4A>T)
1g.12192894A>CCA338454961TNFRSF1Bc.583A>C (p.Ser195Arg)
n.295A>C
n.572A>C
c.562A>C (p.Ser188Arg)
c.-3A>C (n.-3A>C)
1g.12192894A>GCA338454963TNFRSF1Bc.583A>G (p.Ser195Gly)
n.295A>G
n.572A>G
c.562A>G (p.Ser188Gly)
c.-3A>G (n.-3A>G)
1g.12192894A>TCA338454962TNFRSF1Bc.583A>T (p.Ser195Cys)
n.295A>T
n.572A>T
c.562A>T (p.Ser188Cys)
c.-3A>T (n.-3A>T)
1g.12192895G>ACA338454964TNFRSF1Bc.584G>A (p.Ser195Asn)
n.296G>A
n.573G>A
c.563G>A (p.Ser188Asn)
c.-2G>A (n.-2G>A)
1g.12192895G>CCA338454968TNFRSF1Bc.584G>C (p.Ser195Thr)
n.296G>C
n.573G>C
c.563G>C (p.Ser188Thr)
c.-2G>C (n.-2G>C)
1g.12192895G>TCA338454966TNFRSF1Bc.584G>T (p.Ser195Ile)
n.296G>T
n.573G>T
c.563G>T (p.Ser188Ile)
c.-2G>T (n.-2G>T)
1g.12192896C>ACA338454970TNFRSF1Bc.585C>A (p.Ser195Arg)
n.297C>A
n.574C>A
c.564C>A (p.Ser188Arg)
c.-1C>A (n.-1C>A)
1g.12192896C=CA1154001416TNFRSF1Bc.585C= (p.Ser195=)
n.297C=
n.574C=
c.564C= (p.Ser188=)
c.-1C= (n.-1C=)
1g.12192896C>GCA338454971TNFRSF1Bc.585C>G (p.Ser195Arg)
n.297C>G
n.574C>G
c.564C>G (p.Ser188Arg)
c.-1C>G (n.-1C>G)
1g.12192896C>TCA18022034TNFRSF1Bc.585C>T (p.Ser195=)
n.297C>T
n.574C>T
c.564C>T (p.Ser188=)
c.-1C>T (n.-1C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.12192897A=CA1154001417TNFRSF1Bc.586A= (p.Met196=)
n.298A=
n.575A=
c.565A= (p.Met189=)
c.1A= (p.Met1=)
1g.12192897A>CCA338454974TNFRSF1Bc.586A>C (p.Met196Leu)
n.298A>C
n.575A>C
c.565A>C (p.Met189Leu)
c.1A>C (p.Met1Leu)
dbSNP gnomAD v4
1g.12192897A>GCA338454976TNFRSF1Bc.586A>G (p.Met196Val)
n.298A>G
n.575A>G
c.565A>G (p.Met189Val)
c.1A>G (p.Met1Val)
1g.12192897A>TCA338454978TNFRSF1Bc.586A>T (p.Met196Leu)
n.298A>T
n.575A>T
c.565A>T (p.Met189Leu)
c.1A>T (p.Met1Leu)
1g.12192898T>ACA338454980TNFRSF1Bc.587T>A (p.Met196Lys)
n.299T>A
n.576T>A
c.566T>A (p.Met189Lys)
c.2T>A (p.Met1Lys)
1g.12192898T>CCA338454982TNFRSF1Bc.587T>C (p.Met196Thr)
n.299T>C
n.576T>C
c.566T>C (p.Met189Thr)
c.2T>C (p.Met1Thr)
1g.12192898T>GCA600830TNFRSF1Bc.587T>G (p.Met196Arg)
n.299T>G
n.576T>G
c.566T>G (p.Met189Arg)
c.2T>G (p.Met1Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192898T=CA1139849752TNFRSF1Bc.587T= (p.Met196=)
n.299T=
n.576T=
c.566T= (p.Met189=)
c.2T= (p.Met1=)
1g.12192899G>ACA600831TNFRSF1Bc.588G>A (p.Met196Ile)
n.300G>A
n.577G>A
c.567G>A (p.Met189Ile)
c.3G>A (p.Met1Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192899G>CCA338454987TNFRSF1Bc.588G>C (p.Met196Ile)
n.300G>C
n.577G>C
c.567G>C (p.Met189Ile)
c.3G>C (p.Met1Ile)
1g.12192899G=CA1154001418TNFRSF1Bc.588G= (p.Met196=)
n.300G=
n.577G=
c.567G= (p.Met189=)
c.3G= (p.Met1=)
1g.12192899G>TCA338454990TNFRSF1Bc.588G>T (p.Met196Ile)
n.300G>T
n.577G>T
c.567G>T (p.Met189Ile)
c.3G>T (p.Met1Ile)
1g.12192900G>ACA338454997TNFRSF1Bc.589G>A (p.Asp197Asn)
n.301G>A
n.578G>A
c.568G>A (p.Asp190Asn)
c.4G>A (p.Asp2Asn)
1g.12192900G>CCA338454995TNFRSF1Bc.589G>C (p.Asp197His)
n.301G>C
n.578G>C
c.568G>C (p.Asp190His)
c.4G>C (p.Asp2His)
1g.12192900G>TCA338454992TNFRSF1Bc.589G>T (p.Asp197Tyr)
n.301G>T
n.578G>T
c.568G>T (p.Asp190Tyr)
c.4G>T (p.Asp2Tyr)
1g.12192901A=CA1154001419TNFRSF1Bc.590A= (p.Asp197=)
n.302A=
n.579A=
c.569A= (p.Asp190=)
c.5A= (p.Asp2=)
1g.12192901A>CCA338455000TNFRSF1Bc.590A>C (p.Asp197Ala)
n.302A>C
n.579A>C
c.569A>C (p.Asp190Ala)
c.5A>C (p.Asp2Ala)
1g.12192901A>GCA338455002TNFRSF1Bc.590A>G (p.Asp197Gly)
n.302A>G
n.579A>G
c.569A>G (p.Asp190Gly)
c.5A>G (p.Asp2Gly)
gnomAD v4
1g.12192901A>TCA338455004TNFRSF1Bc.590A>T (p.Asp197Val)
n.302A>T
n.579A>T
c.569A>T (p.Asp190Val)
c.5A>T (p.Asp2Val)
dbSNP gnomAD v4
1g.12192902T>ACA338455006TNFRSF1Bc.591T>A (p.Asp197Glu)
n.303T>A
n.580T>A
c.570T>A (p.Asp190Glu)
c.6T>A (p.Asp2Glu)
gnomAD v4
1g.12192902T>CCA416364729TNFRSF1Bc.591T>C (p.Asp197=)
n.303T>C
n.580T>C
c.570T>C (p.Asp190=)
c.6T>C (p.Asp2=)
1g.12192902T>GCA338455007TNFRSF1Bc.591T>G (p.Asp197Glu)
n.303T>G
n.580T>G
c.570T>G (p.Asp190Glu)
c.6T>G (p.Asp2Glu)
1g.12192903G>ACA338455009TNFRSF1Bc.592G>A (p.Ala198Thr)
n.304G>A
n.581G>A
c.571G>A (p.Ala191Thr)
c.7G>A (p.Ala3Thr)
dbSNP gnomAD v2 gnomAD v4
1g.12192903G>CCA338455011TNFRSF1Bc.592G>C (p.Ala198Pro)
n.304G>C
n.581G>C
c.571G>C (p.Ala191Pro)
c.7G>C (p.Ala3Pro)
1g.12192903G=CA1154001420TNFRSF1Bc.592G= (p.Ala198=)
n.304G=
n.581G=
c.571G= (p.Ala191=)
c.7G= (p.Ala3=)
1g.12192903G>TCA338455012TNFRSF1Bc.592G>T (p.Ala198Ser)
n.304G>T
n.581G>T
c.571G>T (p.Ala191Ser)
c.7G>T (p.Ala3Ser)
1g.12192904C>ACA338455015TNFRSF1Bc.593C>A (p.Ala198Glu)
n.305C>A
n.582C>A
c.572C>A (p.Ala191Glu)
c.8C>A (p.Ala3Glu)
1g.12192904C=CA1154001421TNFRSF1Bc.593C= (p.Ala198=)
n.305C=
n.582C=
c.572C= (p.Ala191=)
c.8C= (p.Ala3=)
1g.12192904C>GCA338455017TNFRSF1Bc.593C>G (p.Ala198Gly)
n.305C>G
n.582C>G
c.572C>G (p.Ala191Gly)
c.8C>G (p.Ala3Gly)
1g.12192904C>TCA18022060TNFRSF1Bc.593C>T (p.Ala198Val)
n.305C>T
n.582C>T
c.572C>T (p.Ala191Val)
c.8C>T (p.Ala3Val)
dbSNP gnomAD v2 gnomAD v4
1g.12192905A>CCA416364730TNFRSF1Bc.594A>C (p.Ala198=)
n.306A>C
n.583A>C
c.573A>C (p.Ala191=)
c.9A>C (p.Ala3=)
1g.12192905A>GCA416364732TNFRSF1Bc.594A>G (p.Ala198=)
n.306A>G
n.583A>G
c.573A>G (p.Ala191=)
c.9A>G (p.Ala3=)
1g.12192905A>TCA416364731TNFRSF1Bc.594A>T (p.Ala198=)
n.306A>T
n.583A>T
c.573A>T (p.Ala191=)
c.9A>T (p.Ala3=)
1g.12192906G>ACA338455022TNFRSF1Bc.595G>A (p.Val199Ile)
n.307G>A
n.584G>A
c.574G>A (p.Val192Ile)
c.10G>A (p.Val4Ile)
1g.12192906G>CCA338455021TNFRSF1Bc.595G>C (p.Val199Leu)
n.307G>C
n.584G>C
c.574G>C (p.Val192Leu)
c.10G>C (p.Val4Leu)
1g.12192906G>TCA338455019TNFRSF1Bc.595G>T (p.Val199Phe)
n.307G>T
n.584G>T
c.574G>T (p.Val192Phe)
c.10G>T (p.Val4Phe)
1g.12192907T>ACA338455026TNFRSF1Bc.596T>A (p.Val199Asp)
n.308T>A
n.585T>A
c.575T>A (p.Val192Asp)
c.11T>A (p.Val4Asp)
1g.12192907T>CCA338455027TNFRSF1Bc.596T>C (p.Val199Ala)
n.308T>C
n.585T>C
c.575T>C (p.Val192Ala)
c.11T>C (p.Val4Ala)
1g.12192907T>GCA338455029TNFRSF1Bc.596T>G (p.Val199Gly)
n.308T>G
n.585T>G
c.575T>G (p.Val192Gly)
c.11T>G (p.Val4Gly)
1g.12192908C>ACA416364733TNFRSF1Bc.597C>A (p.Val199=)
n.309C>A
n.586C>A
c.576C>A (p.Val192=)
c.12C>A (p.Val4=)
1g.12192908C>GCA416364734TNFRSF1Bc.597C>G (p.Val199=)
n.309C>G
n.586C>G
c.576C>G (p.Val192=)
c.12C>G (p.Val4=)
1g.12192908C>TCA416364735TNFRSF1Bc.597C>T (p.Val199=)
n.309C>T
n.586C>T
c.576C>T (p.Val192=)
c.12C>T (p.Val4=)
1g.12192909T>ACA338455032TNFRSF1Bc.598T>A (p.Cys200Ser)
n.310T>A
n.587T>A
c.577T>A (p.Cys193Ser)
c.13T>A (p.Cys5Ser)
1g.12192909T>CCA338455033TNFRSF1Bc.598T>C (p.Cys200Arg)
n.310T>C
n.587T>C
c.577T>C (p.Cys193Arg)
c.13T>C (p.Cys5Arg)
1g.12192909T>GCA338455035TNFRSF1Bc.598T>G (p.Cys200Gly)
n.310T>G
n.587T>G
c.577T>G (p.Cys193Gly)
c.13T>G (p.Cys5Gly)
1g.12192910G>ACA338455037TNFRSF1Bc.599G>A (p.Cys200Tyr)
n.311G>A
n.588G>A
c.578G>A (p.Cys193Tyr)
c.14G>A (p.Cys5Tyr)
1g.12192910G>CCA338455038TNFRSF1Bc.599G>C (p.Cys200Ser)
n.311G>C
n.588G>C
c.578G>C (p.Cys193Ser)
c.14G>C (p.Cys5Ser)
1g.12192910G>TCA338455039TNFRSF1Bc.599G>T (p.Cys200Phe)
n.311G>T
n.588G>T
c.578G>T (p.Cys193Phe)
c.14G>T (p.Cys5Phe)
1g.12192911C>ACA338455040TNFRSF1Bc.600C>A (p.Cys200Ter)
n.312C>A
n.589C>A
c.579C>A (p.Cys193Ter)
c.15C>A (p.Cys5Ter)
1g.12192911C>GCA338455042TNFRSF1Bc.600C>G (p.Cys200Trp)
n.312C>G
n.589C>G
c.579C>G (p.Cys193Trp)
c.15C>G (p.Cys5Trp)
1g.12192911C>TCA416364736TNFRSF1Bc.600C>T (p.Cys200=)
n.312C>T
n.589C>T
c.579C>T (p.Cys193=)
c.15C>T (p.Cys5=)
COSMIC
1g.12192912A>CCA338455049TNFRSF1Bc.601A>C (p.Thr201Pro)
n.313A>C
n.590A>C
c.580A>C (p.Thr194Pro)
c.16A>C (p.Thr6Pro)
1g.12192912A>GCA338455047TNFRSF1Bc.601A>G (p.Thr201Ala)
n.313A>G
n.590A>G
c.580A>G (p.Thr194Ala)
c.16A>G (p.Thr6Ala)
1g.12192912A>TCA338455045TNFRSF1Bc.601A>T (p.Thr201Ser)
n.313A>T
n.590A>T
c.580A>T (p.Thr194Ser)
c.16A>T (p.Thr6Ser)
1g.12192913C>ACA338455051TNFRSF1Bc.602C>A (p.Thr201Lys)
n.314C>A
n.591C>A
c.581C>A (p.Thr194Lys)
c.17C>A (p.Thr6Lys)
1g.12192913C=CA1154001422TNFRSF1Bc.602C= (p.Thr201=)
n.314C=
n.591C=
c.581C= (p.Thr194=)
c.17C= (p.Thr6=)
1g.12192913C>GCA338455053TNFRSF1Bc.602C>G (p.Thr201Arg)
n.314C>G
n.591C>G
c.581C>G (p.Thr194Arg)
c.17C>G (p.Thr6Arg)
ClinVar gnomAD v4
1g.12192913C>TCA18022061TNFRSF1Bc.602C>T (p.Thr201Met)
n.314C>T
n.591C>T
c.581C>T (p.Thr194Met)
c.17C>T (p.Thr6Met)
dbSNP gnomAD v2 gnomAD v4
1g.12192914G>ACA416364737TNFRSF1Bc.603G>A (p.Thr201=)
n.315G>A
n.592G>A
c.582G>A (p.Thr194=)
c.18G>A (p.Thr6=)
dbSNP gnomAD v4 COSMIC
1g.12192914G>CCA416364738TNFRSF1Bc.603G>C (p.Thr201=)
n.315G>C
n.592G>C
c.582G>C (p.Thr194=)
c.18G>C (p.Thr6=)
1g.12192914G=CA1154001423TNFRSF1Bc.603G= (p.Thr201=)
n.315G=
n.592G=
c.582G= (p.Thr194=)
c.18G= (p.Thr6=)
1g.12192914G>TCA416364739TNFRSF1Bc.603G>T (p.Thr201=)
n.315G>T
n.592G>T
c.582G>T (p.Thr194=)
c.18G>T (p.Thr6=)
1g.12192915T>ACA338455062TNFRSF1Bc.604T>A (p.Ser202Thr)
n.316T>A
n.593T>A
c.583T>A (p.Ser195Thr)
c.19T>A (p.Ser7Thr)
1g.12192915T>CCA338455064TNFRSF1Bc.604T>C (p.Ser202Pro)
n.316T>C
n.593T>C
c.583T>C (p.Ser195Pro)
c.19T>C (p.Ser7Pro)
1g.12192915T>GCA338455066TNFRSF1Bc.604T>G (p.Ser202Ala)
n.316T>G
n.593T>G
c.583T>G (p.Ser195Ala)
c.19T>G (p.Ser7Ala)
1g.12192916C>ACA338455073TNFRSF1Bc.605C>A (p.Ser202Tyr)
n.317C>A
n.594C>A
c.584C>A (p.Ser195Tyr)
c.20C>A (p.Ser7Tyr)
1g.12192916C>GCA338455074TNFRSF1Bc.605C>G (p.Ser202Cys)
n.317C>G
n.594C>G
c.584C>G (p.Ser195Cys)
c.20C>G (p.Ser7Cys)
1g.12192916C>TCA338455077TNFRSF1Bc.605C>T (p.Ser202Phe)
n.317C>T
n.594C>T
c.584C>T (p.Ser195Phe)
c.20C>T (p.Ser7Phe)
1g.12192920_12192928dupCA2643340370TNFRSF1Bc.609_617dup (p.Thr206_Arg207insSerProThr)
n.321_329dup
n.598_606dup
c.588_596dup (p.Thr199_Arg200insSerProThr)
c.24_32dup (p.Thr11_Arg12insSerProThr)
gnomAD v4
1g.12192917C>ACA416364740TNFRSF1Bc.606C>A (p.Ser202=)
n.318C>A
n.595C>A
c.585C>A (p.Ser195=)
c.21C>A (p.Ser7=)
1g.12192917C=CA1154001424TNFRSF1Bc.606C= (p.Ser202=)
n.318C=
n.595C=
c.585C= (p.Ser195=)
c.21C= (p.Ser7=)
1g.12192917C>GCA416364741TNFRSF1Bc.606C>G (p.Ser202=)
n.318C>G
n.595C>G
c.585C>G (p.Ser195=)
c.21C>G (p.Ser7=)
1g.12192917C>TCA416364742TNFRSF1Bc.606C>T (p.Ser202=)
n.318C>T
n.595C>T
c.585C>T (p.Ser195=)
c.21C>T (p.Ser7=)
dbSNP
1g.12192918A>CCA338455079TNFRSF1Bc.607A>C (p.Thr203Pro)
n.319A>C
n.596A>C
c.586A>C (p.Thr196Pro)
c.22A>C (p.Thr8Pro)
1g.12192918A>GCA338455084TNFRSF1Bc.607A>G (p.Thr203Ala)
n.319A>G
n.596A>G
c.586A>G (p.Thr196Ala)
c.22A>G (p.Thr8Ala)
1g.12192918A>TCA338455086TNFRSF1Bc.607A>T (p.Thr203Ser)
n.319A>T
n.596A>T
c.586A>T (p.Thr196Ser)
c.22A>T (p.Thr8Ser)
1g.12192919C>ACA338455100TNFRSF1Bc.608C>A (p.Thr203Lys)
n.320C>A
n.597C>A
c.587C>A (p.Thr196Lys)
c.23C>A (p.Thr8Lys)
1g.12192919C=CA1143379683TNFRSF1Bc.608C= (p.Thr203=)
n.320C=
n.597C=
c.587C= (p.Thr196=)
c.23C= (p.Thr8=)
1g.12192919C>GCA338455098TNFRSF1Bc.608C>G (p.Thr203Arg)
n.320C>G
n.597C>G
c.587C>G (p.Thr196Arg)
c.23C>G (p.Thr8Arg)
1g.12192919C>TCA600832TNFRSF1Bc.608C>T (p.Thr203Met)
n.320C>T
n.597C>T
c.587C>T (p.Thr196Met)
c.23C>T (p.Thr8Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192920G>ACA600833TNFRSF1Bc.609G>A (p.Thr203=)
n.321G>A
n.598G>A
c.588G>A (p.Thr196=)
c.24G>A (p.Thr8=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.12192920G>CCA416364743TNFRSF1Bc.609G>C (p.Thr203=)
n.321G>C
n.598G>C
c.588G>C (p.Thr196=)
c.24G>C (p.Thr8=)
1g.12192920G=CA1154001425TNFRSF1Bc.609G= (p.Thr203=)
n.321G=
n.598G=
c.588G= (p.Thr196=)
c.24G= (p.Thr8=)
1g.12192920G>TCA416364744TNFRSF1Bc.609G>T (p.Thr203=)
n.321G>T
n.598G>T
c.588G>T (p.Thr196=)
c.24G>T (p.Thr8=)
COSMIC
1g.12192921T>ACA338455113TNFRSF1Bc.610T>A (p.Ser204Thr)
n.322T>A
n.599T>A
c.589T>A (p.Ser197Thr)
c.25T>A (p.Ser9Thr)
1g.12192921T>CCA338455107TNFRSF1Bc.610T>C (p.Ser204Pro)
n.322T>C
n.599T>C
c.589T>C (p.Ser197Pro)
c.25T>C (p.Ser9Pro)
dbSNP gnomAD v2
1g.12192921T>GCA338455109TNFRSF1Bc.610T>G (p.Ser204Ala)
n.322T>G
n.599T>G
c.589T>G (p.Ser197Ala)
c.25T>G (p.Ser9Ala)
1g.12192921T=CA1154001426TNFRSF1Bc.610T= (p.Ser204=)
n.322T=
n.599T=
c.589T= (p.Ser197=)
c.25T= (p.Ser9=)
1g.12192922C>ACA338455117TNFRSF1Bc.611C>A (p.Ser204Tyr)
n.323C>A
n.600C>A
c.590C>A (p.Ser197Tyr)
c.26C>A (p.Ser9Tyr)
1g.12192922C>GCA338455120TNFRSF1Bc.611C>G (p.Ser204Cys)
n.323C>G
n.600C>G
c.590C>G (p.Ser197Cys)
c.26C>G (p.Ser9Cys)
1g.12192922C>TCA338455123TNFRSF1Bc.611C>T (p.Ser204Phe)
n.323C>T
n.600C>T
c.590C>T (p.Ser197Phe)
c.26C>T (p.Ser9Phe)
1g.12192923C>ACA416364745TNFRSF1Bc.612C>A (p.Ser204=)
n.324C>A
n.601C>A
c.591C>A (p.Ser197=)
c.27C>A (p.Ser9=)
1g.12192923C>GCA416364746TNFRSF1Bc.612C>G (p.Ser204=)
n.324C>G
n.601C>G
c.591C>G (p.Ser197=)
c.27C>G (p.Ser9=)
1g.12192923C>TCA416364747TNFRSF1Bc.612C>T (p.Ser204=)
n.324C>T
n.601C>T
c.591C>T (p.Ser197=)
c.27C>T (p.Ser9=)
1g.12192924C>ACA338455129TNFRSF1Bc.613C>A (p.Pro205Thr)
n.325C>A
n.602C>A
c.592C>A (p.Pro198Thr)
c.28C>A (p.Pro10Thr)
gnomAD v4
1g.12192924C=CA1143489384TNFRSF1Bc.613C= (p.Pro205=)
n.325C=
n.602C=
c.592C= (p.Pro198=)
c.28C= (p.Pro10=)
1g.12192924C>GCA600834TNFRSF1Bc.613C>G (p.Pro205Ala)
n.325C>G
n.602C>G
c.592C>G (p.Pro198Ala)
c.28C>G (p.Pro10Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192924C>TCA338455145TNFRSF1Bc.613C>T (p.Pro205Ser)
n.325C>T
n.602C>T
c.592C>T (p.Pro198Ser)
c.28C>T (p.Pro10Ser)
1g.12192925C>ACA338455151TNFRSF1Bc.614C>A (p.Pro205His)
n.326C>A
n.603C>A
c.593C>A (p.Pro198His)
c.29C>A (p.Pro10His)
1g.12192925C=CA1154001427TNFRSF1Bc.614C= (p.Pro205=)
n.326C=
n.603C=
c.593C= (p.Pro198=)
c.29C= (p.Pro10=)
1g.12192925C>GCA600835TNFRSF1Bc.614C>G (p.Pro205Arg)
n.326C>G
n.603C>G
c.593C>G (p.Pro198Arg)
c.29C>G (p.Pro10Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.12192925C>TCA338455158TNFRSF1Bc.614C>T (p.Pro205Leu)
n.326C>T
n.603C>T
c.593C>T (p.Pro198Leu)
c.29C>T (p.Pro10Leu)
1g.12192926C>ACA600836TNFRSF1Bc.615C>A (p.Pro205=)
n.327C>A
n.604C>A
c.594C>A (p.Pro198=)
c.30C>A (p.Pro10=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192926C=CA1154001428TNFRSF1Bc.615C= (p.Pro205=)
n.327C=
n.604C=
c.594C= (p.Pro198=)
c.30C= (p.Pro10=)
1g.12192926C>GCA416364748TNFRSF1Bc.615C>G (p.Pro205=)
n.327C>G
n.604C>G
c.594C>G (p.Pro198=)
c.30C>G (p.Pro10=)
gnomAD v4
1g.12192926C>TCA416364749TNFRSF1Bc.615C>T (p.Pro205=)
n.327C>T
n.604C>T
c.594C>T (p.Pro198=)
c.30C>T (p.Pro10=)
1g.12192927A>CCA338455171TNFRSF1Bc.616A>C (p.Thr206Pro)
n.328A>C
n.605A>C
c.595A>C (p.Thr199Pro)
c.31A>C (p.Thr11Pro)
1g.12192927A>GCA338455165TNFRSF1Bc.616A>G (p.Thr206Ala)
n.328A>G
n.605A>G
c.595A>G (p.Thr199Ala)
c.31A>G (p.Thr11Ala)
1g.12192927A>TCA338455167TNFRSF1Bc.616A>T (p.Thr206Ser)
n.328A>T
n.605A>T
c.595A>T (p.Thr199Ser)
c.31A>T (p.Thr11Ser)
1g.12192928C>ACA338455172TNFRSF1Bc.617C>A (p.Thr206Asn)
n.329C>A
n.606C>A
c.596C>A (p.Thr199Asn)
c.32C>A (p.Thr11Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.12192928C=CA1154001429TNFRSF1Bc.617C= (p.Thr206=)
n.329C=
n.606C=
c.596C= (p.Thr199=)
c.32C= (p.Thr11=)
1g.12192928C>GCA338455179TNFRSF1Bc.617C>G (p.Thr206Ser)
n.329C>G
n.606C>G
c.596C>G (p.Thr199Ser)
c.32C>G (p.Thr11Ser)
1g.12192928C>TCA338455183TNFRSF1Bc.617C>T (p.Thr206Ile)
n.329C>T
n.606C>T
c.596C>T (p.Thr199Ile)
c.32C>T (p.Thr11Ile)
1g.12192929C>ACA416364750TNFRSF1Bc.618C>A (p.Thr206=)
n.330C>A
n.607C>A
c.597C>A (p.Thr199=)
c.33C>A (p.Thr11=)
dbSNP
1g.12192929C=CA1154001430TNFRSF1Bc.618C= (p.Thr206=)
n.330C=
n.607C=
c.597C= (p.Thr199=)
c.33C= (p.Thr11=)
1g.12192929C>GCA416364751TNFRSF1Bc.618C>G (p.Thr206=)
n.330C>G
n.607C>G
c.597C>G (p.Thr199=)
c.33C>G (p.Thr11=)
1g.12192929C>TCA416364752TNFRSF1Bc.618C>T (p.Thr206=)
n.330C>T
n.607C>T
c.597C>T (p.Thr199=)
c.33C>T (p.Thr11=)
1g.12192930C>ACA416364753TNFRSF1Bc.619C>A (p.Arg207=)
n.331C>A
n.608C>A
c.598C>A (p.Arg200=)
c.34C>A (p.Arg12=)
1g.12192930C=CA1141768164TNFRSF1Bc.619C= (p.Arg207=)
n.331C=
n.608C=
c.598C= (p.Arg200=)
c.34C= (p.Arg12=)
1g.12192930C>GCA338455187TNFRSF1Bc.619C>G (p.Arg207Gly)
n.331C>G
n.608C>G
c.598C>G (p.Arg200Gly)
c.34C>G (p.Arg12Gly)
dbSNP
1g.12192930C>TCA600837TNFRSF1Bc.619C>T (p.Arg207Trp)
n.331C>T
n.608C>T
c.598C>T (p.Arg200Trp)
c.34C>T (p.Arg12Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192931G>ACA600838TNFRSF1Bc.620G>A (p.Arg207Gln)
n.332G>A
n.609G>A
c.599G>A (p.Arg200Gln)
c.35G>A (p.Arg12Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.12192931G>CCA338455212TNFRSF1Bc.620G>C (p.Arg207Pro)
n.332G>C
n.609G>C
c.599G>C (p.Arg200Pro)
c.35G>C (p.Arg12Pro)
1g.12192931G=CA1145935286TNFRSF1Bc.620G= (p.Arg207=)
n.332G=
n.609G=
c.599G= (p.Arg200=)
c.35G= (p.Arg12=)
1g.12192931G>TCA338455217TNFRSF1Bc.620G>T (p.Arg207Leu)
n.332G>T
n.609G>T
c.599G>T (p.Arg200Leu)
c.35G>T (p.Arg12Leu)
1g.12192932G>ACA416364754TNFRSF1Bc.621G>A (p.Arg207=)
n.333G>A
n.610G>A
c.600G>A (p.Arg200=)
c.36G>A (p.Arg12=)
gnomAD v4
1g.12192932G>CCA416364755TNFRSF1Bc.621G>C (p.Arg207=)
n.333G>C
n.610G>C
c.600G>C (p.Arg200=)
c.36G>C (p.Arg12=)
1g.12192932G>TCA416364756TNFRSF1Bc.621G>T (p.Arg207=)
n.333G>T
n.610G>T
c.600G>T (p.Arg200=)
c.36G>T (p.Arg12=)
1g.12192933A=CA1154001431TNFRSF1Bc.622A= (p.Ser208=)
n.334A=
n.611A=
c.601A= (p.Ser201=)
c.37A= (p.Ser13=)
1g.12192933A>CCA600839TNFRSF1Bc.622A>C (p.Ser208Arg)
n.334A>C
n.611A>C
c.601A>C (p.Ser201Arg)
c.37A>C (p.Ser13Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.12192933A>GCA338455220TNFRSF1Bc.622A>G (p.Ser208Gly)
n.334A>G
n.611A>G
c.601A>G (p.Ser201Gly)
c.37A>G (p.Ser13Gly)
1g.12192933A>TCA338455221TNFRSF1Bc.622A>T (p.Ser208Cys)
n.334A>T
n.611A>T
c.601A>T (p.Ser201Cys)
c.37A>T (p.Ser13Cys)
1g.12192934G>ACA338455230TNFRSF1Bc.623G>A (p.Ser208Asn)
n.335G>A
n.612G>A
c.602G>A (p.Ser201Asn)
c.38G>A (p.Ser13Asn)
1g.12192934G>CCA338455225TNFRSF1Bc.623G>C (p.Ser208Thr)
n.335G>C
n.612G>C
c.602G>C (p.Ser201Thr)
c.38G>C (p.Ser13Thr)
dbSNP
1g.12192934G=CA1154001432TNFRSF1Bc.623G= (p.Ser208=)
n.335G=
n.612G=
c.602G= (p.Ser201=)
c.38G= (p.Ser13=)
1g.12192934G>TCA338455223TNFRSF1Bc.623G>T (p.Ser208Ile)
n.335G>T
n.612G>T
c.602G>T (p.Ser201Ile)
c.38G>T (p.Ser13Ile)
1g.12192935T>ACA338455233TNFRSF1Bc.624T>A (p.Ser208Arg)
n.336T>A
n.613T>A
c.603T>A (p.Ser201Arg)
c.39T>A (p.Ser13Arg)
1g.12192935T>CCA416364757TNFRSF1Bc.624T>C (p.Ser208=)
n.336T>C
n.613T>C
c.603T>C (p.Ser201=)
c.39T>C (p.Ser13=)
1g.12192935T>GCA338455234TNFRSF1Bc.624T>G (p.Ser208Arg)
n.336T>G
n.613T>G
c.603T>G (p.Ser201Arg)
c.39T>G (p.Ser13Arg)
1g.12192936A>CCA338455236TNFRSF1Bc.625A>C (p.Met209Leu)
n.337A>C
n.614A>C
c.604A>C (p.Met202Leu)
c.40A>C (p.Met14Leu)
1g.12192936A>GCA338455240TNFRSF1Bc.625A>G (p.Met209Val)
n.337A>G
n.614A>G
c.604A>G (p.Met202Val)
c.40A>G (p.Met14Val)
gnomAD v4
1g.12192936A>TCA338455242TNFRSF1Bc.625A>T (p.Met209Leu)
n.337A>T
n.614A>T
c.604A>T (p.Met202Leu)
c.40A>T (p.Met14Leu)
1g.12192937T>ACA338455260TNFRSF1Bc.626T>A (p.Met209Lys)
n.338T>A
n.615T>A
c.605T>A (p.Met202Lys)
c.41T>A (p.Met14Lys)
1g.12192937T>CCA338455253TNFRSF1Bc.626T>C (p.Met209Thr)
n.338T>C
n.615T>C
c.605T>C (p.Met202Thr)
c.41T>C (p.Met14Thr)
1g.12192937T>GCA338455249TNFRSF1Bc.626T>G (p.Met209Arg)
n.338T>G
n.615T>G
c.605T>G (p.Met202Arg)
c.41T>G (p.Met14Arg)
1g.12192938G>ACA338455268TNFRSF1Bc.627G>A (p.Met209Ile)
n.339G>A
n.616G>A
c.606G>A (p.Met202Ile)
c.42G>A (p.Met14Ile)
1g.12192938G>CCA338455275TNFRSF1Bc.627G>C (p.Met209Ile)
n.339G>C
n.616G>C
c.606G>C (p.Met202Ile)
c.42G>C (p.Met14Ile)
1g.12192938G>TCA338455280TNFRSF1Bc.627G>T (p.Met209Ile)
n.339G>T
n.616G>T
c.606G>T (p.Met202Ile)
c.42G>T (p.Met14Ile)
1g.12192939G>ACA338455283TNFRSF1Bc.628G>A (p.Ala210Thr)
n.340G>A
n.617G>A
c.607G>A (p.Ala203Thr)
c.43G>A (p.Ala15Thr)
gnomAD v4
1g.12192939G>CCA338455284TNFRSF1Bc.628G>C (p.Ala210Pro)
n.340G>C
n.617G>C
c.607G>C (p.Ala203Pro)
c.43G>C (p.Ala15Pro)
1g.12192939G=CA1154001433TNFRSF1Bc.628G= (p.Ala210=)
n.340G=
n.617G=
c.607G= (p.Ala203=)
c.43G= (p.Ala15=)
1g.12192939G>TCA338455285TNFRSF1Bc.628G>T (p.Ala210Ser)
n.340G>T
n.617G>T
c.607G>T (p.Ala203Ser)
c.43G>T (p.Ala15Ser)
dbSNP gnomAD v2 gnomAD v4
1g.12192940C>ACA338455288TNFRSF1Bc.629C>A (p.Ala210Asp)
n.341C>A
n.618C>A
c.608C>A (p.Ala203Asp)
c.44C>A (p.Ala15Asp)
1g.12192940C=CA1154001434TNFRSF1Bc.629C= (p.Ala210=)
n.341C=
n.618C=
c.608C= (p.Ala203=)
c.44C= (p.Ala15=)
1g.12192940C>GCA338455296TNFRSF1Bc.629C>G (p.Ala210Gly)
n.341C>G
n.618C>G
c.608C>G (p.Ala203Gly)
c.44C>G (p.Ala15Gly)
1g.12192940C>TCA338455291TNFRSF1Bc.629C>T (p.Ala210Val)
n.341C>T
n.618C>T
c.608C>T (p.Ala203Val)
c.44C>T (p.Ala15Val)
dbSNP gnomAD v3 gnomAD v4
1g.12192941C>ACA416364760TNFRSF1Bc.630C>A (p.Ala210=)
n.342C>A
n.619C>A
c.609C>A (p.Ala203=)
c.45C>A (p.Ala15=)
1g.12192941C>GCA416364759TNFRSF1Bc.630C>G (p.Ala210=)
n.342C>G
n.619C>G
c.609C>G (p.Ala203=)
c.45C>G (p.Ala15=)
1g.12192941C>TCA416364758TNFRSF1Bc.630C>T (p.Ala210=)
n.342C>T
n.619C>T
c.609C>T (p.Ala203=)
c.45C>T (p.Ala15=)
1g.12192942C>ACA338455309TNFRSF1Bc.631C>A (p.Pro211Thr)
n.343C>A
n.620C>A
c.610C>A (p.Pro204Thr)
c.46C>A (p.Pro16Thr)
1g.12192942C>GCA338455313TNFRSF1Bc.631C>G (p.Pro211Ala)
n.343C>G
n.620C>G
c.610C>G (p.Pro204Ala)
c.46C>G (p.Pro16Ala)
1g.12192942C>TCA338455316TNFRSF1Bc.631C>T (p.Pro211Ser)
n.343C>T
n.620C>T
c.610C>T (p.Pro204Ser)
c.46C>T (p.Pro16Ser)
1g.12192943C>ACA338455321TNFRSF1Bc.632C>A (p.Pro211Gln)
n.344C>A
n.621C>A
c.611C>A (p.Pro204Gln)
c.47C>A (p.Pro16Gln)
1g.12192943C>GCA338455327TNFRSF1Bc.632C>G (p.Pro211Arg)
n.344C>G
n.621C>G
c.611C>G (p.Pro204Arg)
c.47C>G (p.Pro16Arg)
1g.12192943C>TCA338455331TNFRSF1Bc.632C>T (p.Pro211Leu)
n.344C>T
n.621C>T
c.611C>T (p.Pro204Leu)
c.47C>T (p.Pro16Leu)
1g.12192944A=CA1154001435TNFRSF1Bc.633A= (p.Pro211=)
n.345A=
n.622A=
c.612A= (p.Pro204=)
c.48A= (p.Pro16=)
1g.12192944A>CCA416364761TNFRSF1Bc.633A>C (p.Pro211=)
n.345A>C
n.622A>C
c.612A>C (p.Pro204=)
c.48A>C (p.Pro16=)
1g.12192944A>GCA600840TNFRSF1Bc.633A>G (p.Pro211=)
n.345A>G
n.622A>G
c.612A>G (p.Pro204=)
c.48A>G (p.Pro16=)
dbSNP ExAC gnomAD v2
1g.12192944A>TCA416364762TNFRSF1Bc.633A>T (p.Pro211=)
n.345A>T
n.622A>T
c.612A>T (p.Pro204=)
c.48A>T (p.Pro16=)
1g.12192945G>ACA338455350TNFRSF1Bc.634G>A (p.Gly212Arg)
n.346G>A
n.623G>A
c.613G>A (p.Gly205Arg)
c.49G>A (p.Gly17Arg)
1g.12192945G>CCA600841TNFRSF1Bc.634G>C (p.Gly212Arg)
n.346G>C
n.623G>C
c.613G>C (p.Gly205Arg)
c.49G>C (p.Gly17Arg)
dbSNP ExAC gnomAD v2
1g.12192945G=CA1154001436TNFRSF1Bc.634G= (p.Gly212=)
n.346G=
n.623G=
c.613G= (p.Gly205=)
c.49G= (p.Gly17=)
1g.12192945G>TCA338455359TNFRSF1Bc.634G>T (p.Gly212Trp)
n.346G>T
n.623G>T
c.613G>T (p.Gly205Trp)
c.49G>T (p.Gly17Trp)
1g.12192946G>ACA338455368TNFRSF1Bc.635G>A (p.Gly212Glu)
n.347G>A
n.624G>A
c.614G>A (p.Gly205Glu)
c.50G>A (p.Gly17Glu)
dbSNP gnomAD v3 gnomAD v4
1g.12192946G>CCA338455367TNFRSF1Bc.635G>C (p.Gly212Ala)
n.347G>C
n.624G>C
c.614G>C (p.Gly205Ala)
c.50G>C (p.Gly17Ala)
1g.12192946G=CA1154001437TNFRSF1Bc.635G= (p.Gly212=)
n.347G=
n.624G=
c.614G= (p.Gly205=)
c.50G= (p.Gly17=)
1g.12192946G>TCA338455363TNFRSF1Bc.635G>T (p.Gly212Val)
n.347G>T
n.624G>T
c.614G>T (p.Gly205Val)
c.50G>T (p.Gly17Val)
1g.12192947G>ACA416364763TNFRSF1Bc.636G>A (p.Gly212=)
n.348G>A
n.625G>A
c.615G>A (p.Gly205=)
c.51G>A (p.Gly17=)
1g.12192947G>CCA416364764TNFRSF1Bc.636G>C (p.Gly212=)
n.348G>C
n.625G>C
c.615G>C (p.Gly205=)
c.51G>C (p.Gly17=)
1g.12192947G>TCA416364765TNFRSF1Bc.636G>T (p.Gly212=)
n.348G>T
n.625G>T
c.615G>T (p.Gly205=)
c.51G>T (p.Gly17=)
1g.12192948G>ACA338455371TNFRSF1Bc.637G>A (p.Ala213Thr)
n.349G>A
n.626G>A
c.616G>A (p.Ala206Thr)
c.52G>A (p.Ala18Thr)
1g.12192948G>CCA338455376TNFRSF1Bc.637G>C (p.Ala213Pro)
n.349G>C
n.626G>C
c.616G>C (p.Ala206Pro)
c.52G>C (p.Ala18Pro)
COSMIC
1g.12192948G>TCA338455382TNFRSF1Bc.637G>T (p.Ala213Ser)
n.349G>T
n.626G>T
c.616G>T (p.Ala206Ser)
c.52G>T (p.Ala18Ser)
1g.12192949C>ACA338455387TNFRSF1Bc.638C>A (p.Ala213Glu)
n.350C>A
n.627C>A
c.617C>A (p.Ala206Glu)
c.53C>A (p.Ala18Glu)
1g.12192949C>GCA338455388TNFRSF1Bc.638C>G (p.Ala213Gly)
n.350C>G
n.627C>G
c.617C>G (p.Ala206Gly)
c.53C>G (p.Ala18Gly)
1g.12192949C>TCA338455389TNFRSF1Bc.638C>T (p.Ala213Val)
n.350C>T
n.627C>T
c.617C>T (p.Ala206Val)
c.53C>T (p.Ala18Val)
gnomAD v4
1g.12192950A>CCA416364766TNFRSF1Bc.639A>C (p.Ala213=)
n.351A>C
n.628A>C
c.618A>C (p.Ala206=)
c.54A>C (p.Ala18=)
1g.12192950A>GCA416364767TNFRSF1Bc.639A>G (p.Ala213=)
n.351A>G
n.628A>G
c.618A>G (p.Ala206=)
c.54A>G (p.Ala18=)
1g.12192950A>TCA416364768TNFRSF1Bc.639A>T (p.Ala213=)
n.351A>T
n.628A>T
c.618A>T (p.Ala206=)
c.54A>T (p.Ala18=)
1g.12192951G>ACA338455396TNFRSF1Bc.640G>A (p.Val214Ile)
n.352G>A
n.629G>A
c.619G>A (p.Val207Ile)
c.55G>A (p.Val19Ile)
gnomAD v4
1g.12192951G>CCA338455395TNFRSF1Bc.640G>C (p.Val214Leu)
n.352G>C
n.629G>C
c.619G>C (p.Val207Leu)
c.55G>C (p.Val19Leu)
1g.12192951G>TCA338455392TNFRSF1Bc.640G>T (p.Val214Leu)
n.352G>T
n.629G>T
c.619G>T (p.Val207Leu)
c.55G>T (p.Val19Leu)
1g.12192952T>ACA338455397TNFRSF1Bc.641T>A (p.Val214Glu)
n.353T>A
n.630T>A
c.620T>A (p.Val207Glu)
c.56T>A (p.Val19Glu)
1g.12192952T>CCA338455400TNFRSF1Bc.641T>C (p.Val214Ala)
n.353T>C
n.630T>C
c.620T>C (p.Val207Ala)
c.56T>C (p.Val19Ala)
gnomAD v4 COSMIC
1g.12192952T>GCA338455408TNFRSF1Bc.641T>G (p.Val214Gly)
n.353T>G
n.630T>G
c.620T>G (p.Val207Gly)
c.56T>G (p.Val19Gly)
1g.12192953A=CA1154001438TNFRSF1Bc.642A= (p.Val214=)
n.354A=
n.631A=
c.621A= (p.Val207=)
c.57A= (p.Val19=)
1g.12192953A>CCA416364769TNFRSF1Bc.642A>C (p.Val214=)
n.354A>C
n.631A>C
c.621A>C (p.Val207=)
c.57A>C (p.Val19=)
dbSNP gnomAD v2 gnomAD v4
1g.12192953A>GCA416364770TNFRSF1Bc.642A>G (p.Val214=)
n.354A>G
n.631A>G
c.621A>G (p.Val207=)
c.57A>G (p.Val19=)
1g.12192953A>TCA416364771TNFRSF1Bc.642A>T (p.Val214=)
n.354A>T
n.631A>T
c.621A>T (p.Val207=)
c.57A>T (p.Val19=)

Number of alleles fetched