Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.12192898T>A | CA338454980 | TNFRSF1B | c.587T>A (p.Met196Lys) n.299T>A n.576T>A c.566T>A (p.Met189Lys) c.2T>A (p.Met1Lys) | |
1 | g.12192898T>C | CA338454982 | TNFRSF1B | c.587T>C (p.Met196Thr) n.299T>C n.576T>C c.566T>C (p.Met189Thr) c.2T>C (p.Met1Thr) | |
1 | g.12192898T>G | CA600830 | TNFRSF1B | c.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 |
1 | g.12192898T= | CA1139849752 | TNFRSF1B | c.587T= (p.Met196=) n.299T= n.576T= c.566T= (p.Met189=) c.2T= (p.Met1=) | |
1 | g.12192899G>A | CA600831 | TNFRSF1B | c.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 |
1 | g.12192899G>C | CA338454987 | TNFRSF1B | c.588G>C (p.Met196Ile) n.300G>C n.577G>C c.567G>C (p.Met189Ile) c.3G>C (p.Met1Ile) | |
1 | g.12192899G= | CA1154001418 | TNFRSF1B | c.588G= (p.Met196=) n.300G= n.577G= c.567G= (p.Met189=) c.3G= (p.Met1=) | |
1 | g.12192899G>T | CA338454990 | TNFRSF1B | c.588G>T (p.Met196Ile) n.300G>T n.577G>T c.567G>T (p.Met189Ile) c.3G>T (p.Met1Ile) | |
1 | g.12192900G>A | CA338454997 | TNFRSF1B | c.589G>A (p.Asp197Asn) n.301G>A n.578G>A c.568G>A (p.Asp190Asn) c.4G>A (p.Asp2Asn) | |
1 | g.12192900G>C | CA338454995 | TNFRSF1B | c.589G>C (p.Asp197His) n.301G>C n.578G>C c.568G>C (p.Asp190His) c.4G>C (p.Asp2His) | |
1 | g.12192900G>T | CA338454992 | TNFRSF1B | c.589G>T (p.Asp197Tyr) n.301G>T n.578G>T c.568G>T (p.Asp190Tyr) c.4G>T (p.Asp2Tyr) | |
1 | g.12192901A= | CA1154001419 | TNFRSF1B | c.590A= (p.Asp197=) n.302A= n.579A= c.569A= (p.Asp190=) c.5A= (p.Asp2=) | |
1 | g.12192901A>C | CA338455000 | TNFRSF1B | c.590A>C (p.Asp197Ala) n.302A>C n.579A>C c.569A>C (p.Asp190Ala) c.5A>C (p.Asp2Ala) | |
1 | g.12192901A>G | CA338455002 | TNFRSF1B | c.590A>G (p.Asp197Gly) n.302A>G n.579A>G c.569A>G (p.Asp190Gly) c.5A>G (p.Asp2Gly) | gnomAD v4 |
1 | g.12192901A>T | CA338455004 | TNFRSF1B | c.590A>T (p.Asp197Val) n.302A>T n.579A>T c.569A>T (p.Asp190Val) c.5A>T (p.Asp2Val) | dbSNP gnomAD v4 |
1 | g.12192902T>A | CA338455006 | TNFRSF1B | c.591T>A (p.Asp197Glu) n.303T>A n.580T>A c.570T>A (p.Asp190Glu) c.6T>A (p.Asp2Glu) | gnomAD v4 |
1 | g.12192902T>C | CA416364729 | TNFRSF1B | c.591T>C (p.Asp197=) n.303T>C n.580T>C c.570T>C (p.Asp190=) c.6T>C (p.Asp2=) | |
1 | g.12192902T>G | CA338455007 | TNFRSF1B | c.591T>G (p.Asp197Glu) n.303T>G n.580T>G c.570T>G (p.Asp190Glu) c.6T>G (p.Asp2Glu) | |
1 | g.12192903G>A | CA338455009 | TNFRSF1B | c.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 |
1 | g.12192903G>C | CA338455011 | TNFRSF1B | c.592G>C (p.Ala198Pro) n.304G>C n.581G>C c.571G>C (p.Ala191Pro) c.7G>C (p.Ala3Pro) | |
1 | g.12192903G= | CA1154001420 | TNFRSF1B | c.592G= (p.Ala198=) n.304G= n.581G= c.571G= (p.Ala191=) c.7G= (p.Ala3=) | |
1 | g.12192903G>T | CA338455012 | TNFRSF1B | c.592G>T (p.Ala198Ser) n.304G>T n.581G>T c.571G>T (p.Ala191Ser) c.7G>T (p.Ala3Ser) | |
1 | g.12192904C>A | CA338455015 | TNFRSF1B | c.593C>A (p.Ala198Glu) n.305C>A n.582C>A c.572C>A (p.Ala191Glu) c.8C>A (p.Ala3Glu) | |
1 | g.12192904C= | CA1154001421 | TNFRSF1B | c.593C= (p.Ala198=) n.305C= n.582C= c.572C= (p.Ala191=) c.8C= (p.Ala3=) | |
1 | g.12192904C>G | CA338455017 | TNFRSF1B | c.593C>G (p.Ala198Gly) n.305C>G n.582C>G c.572C>G (p.Ala191Gly) c.8C>G (p.Ala3Gly) | |
1 | g.12192904C>T | CA18022060 | TNFRSF1B | c.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 |
1 | g.12192905A>C | CA416364730 | TNFRSF1B | c.594A>C (p.Ala198=) n.306A>C n.583A>C c.573A>C (p.Ala191=) c.9A>C (p.Ala3=) | |
1 | g.12192905A>G | CA416364732 | TNFRSF1B | c.594A>G (p.Ala198=) n.306A>G n.583A>G c.573A>G (p.Ala191=) c.9A>G (p.Ala3=) | |
1 | g.12192905A>T | CA416364731 | TNFRSF1B | c.594A>T (p.Ala198=) n.306A>T n.583A>T c.573A>T (p.Ala191=) c.9A>T (p.Ala3=) | |
1 | g.12192906G>A | CA338455022 | TNFRSF1B | c.595G>A (p.Val199Ile) n.307G>A n.584G>A c.574G>A (p.Val192Ile) c.10G>A (p.Val4Ile) | |
1 | g.12192906G>C | CA338455021 | TNFRSF1B | c.595G>C (p.Val199Leu) n.307G>C n.584G>C c.574G>C (p.Val192Leu) c.10G>C (p.Val4Leu) | |
1 | g.12192906G>T | CA338455019 | TNFRSF1B | c.595G>T (p.Val199Phe) n.307G>T n.584G>T c.574G>T (p.Val192Phe) c.10G>T (p.Val4Phe) | |
1 | g.12192907T>A | CA338455026 | TNFRSF1B | c.596T>A (p.Val199Asp) n.308T>A n.585T>A c.575T>A (p.Val192Asp) c.11T>A (p.Val4Asp) | |
1 | g.12192907T>C | CA338455027 | TNFRSF1B | c.596T>C (p.Val199Ala) n.308T>C n.585T>C c.575T>C (p.Val192Ala) c.11T>C (p.Val4Ala) | |
1 | g.12192907T>G | CA338455029 | TNFRSF1B | c.596T>G (p.Val199Gly) n.308T>G n.585T>G c.575T>G (p.Val192Gly) c.11T>G (p.Val4Gly) | |
1 | g.12192908C>A | CA416364733 | TNFRSF1B | c.597C>A (p.Val199=) n.309C>A n.586C>A c.576C>A (p.Val192=) c.12C>A (p.Val4=) | |
1 | g.12192908C>G | CA416364734 | TNFRSF1B | c.597C>G (p.Val199=) n.309C>G n.586C>G c.576C>G (p.Val192=) c.12C>G (p.Val4=) | |
1 | g.12192908C>T | CA416364735 | TNFRSF1B | c.597C>T (p.Val199=) n.309C>T n.586C>T c.576C>T (p.Val192=) c.12C>T (p.Val4=) | |
1 | g.12192909T>A | CA338455032 | TNFRSF1B | c.598T>A (p.Cys200Ser) n.310T>A n.587T>A c.577T>A (p.Cys193Ser) c.13T>A (p.Cys5Ser) | |
1 | g.12192909T>C | CA338455033 | TNFRSF1B | c.598T>C (p.Cys200Arg) n.310T>C n.587T>C c.577T>C (p.Cys193Arg) c.13T>C (p.Cys5Arg) | |
1 | g.12192909T>G | CA338455035 | TNFRSF1B | c.598T>G (p.Cys200Gly) n.310T>G n.587T>G c.577T>G (p.Cys193Gly) c.13T>G (p.Cys5Gly) | |
1 | g.12192910G>A | CA338455037 | TNFRSF1B | c.599G>A (p.Cys200Tyr) n.311G>A n.588G>A c.578G>A (p.Cys193Tyr) c.14G>A (p.Cys5Tyr) | |
1 | g.12192910G>C | CA338455038 | TNFRSF1B | c.599G>C (p.Cys200Ser) n.311G>C n.588G>C c.578G>C (p.Cys193Ser) c.14G>C (p.Cys5Ser) | |
1 | g.12192910G>T | CA338455039 | TNFRSF1B | c.599G>T (p.Cys200Phe) n.311G>T n.588G>T c.578G>T (p.Cys193Phe) c.14G>T (p.Cys5Phe) | |
1 | g.12192911C>A | CA338455040 | TNFRSF1B | c.600C>A (p.Cys200Ter) n.312C>A n.589C>A c.579C>A (p.Cys193Ter) c.15C>A (p.Cys5Ter) | |
1 | g.12192911C>G | CA338455042 | TNFRSF1B | c.600C>G (p.Cys200Trp) n.312C>G n.589C>G c.579C>G (p.Cys193Trp) c.15C>G (p.Cys5Trp) | |
1 | g.12192911C>T | CA416364736 | TNFRSF1B | c.600C>T (p.Cys200=) n.312C>T n.589C>T c.579C>T (p.Cys193=) c.15C>T (p.Cys5=) | COSMIC |
1 | g.12192912A>C | CA338455049 | TNFRSF1B | c.601A>C (p.Thr201Pro) n.313A>C n.590A>C c.580A>C (p.Thr194Pro) c.16A>C (p.Thr6Pro) | |
1 | g.12192912A>G | CA338455047 | TNFRSF1B | c.601A>G (p.Thr201Ala) n.313A>G n.590A>G c.580A>G (p.Thr194Ala) c.16A>G (p.Thr6Ala) | |
1 | g.12192912A>T | CA338455045 | TNFRSF1B | c.601A>T (p.Thr201Ser) n.313A>T n.590A>T c.580A>T (p.Thr194Ser) c.16A>T (p.Thr6Ser) |