Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.39265364_39265366dup | CA2665159086 | CX3CR1 | c.*81_*83dup (n.*81_*83dup) | gnomAD v4 |
3 | g.39265364_39265366del | CA1358882694 | CX3CR1 | c.*81_*83del (n.*81_*83del) | dbSNP gnomAD v4 |
3 | g.39265369dup | CA2549261365 | CX3CR1 | c.*77dup (n.*77dup) | gnomAD v4 |
3 | g.39265366A= | CA1358882698 | CX3CR1 | c.*76T= (n.*76T=) | |
3 | g.39265366A>G | CA73027463 | CX3CR1 | c.*76T>C (n.*76T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265368_39265398dup | CA1047048604 | CX3CR1 | c.*45_*75dup (n.*45_*75dup) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.39265369A= | CA1358882699 | CX3CR1 | c.*73T= (n.*73T=) | |
3 | g.39265369A>G | CA542616771 | CX3CR1 | c.*73T>C (n.*73T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265371C>A | CA2665159088 | CX3CR1 | c.*71G>T (n.*71G>T) | gnomAD v4 |
3 | g.39265371C= | CA1358882700 | CX3CR1 | c.*71G= (n.*71G=) | |
3 | g.39265371C>G | CA542616772 | CX3CR1 | c.*71G>C (n.*71G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265378C>A | CA2665159089 | CX3CR1 | c.*64G>T (n.*64G>T) | gnomAD v4 |
3 | g.39265379A>G | CA2577557225 | CX3CR1 | c.*63T>C (n.*63T>C) | |
3 | g.39265380C>A | CA2665159090 | CX3CR1 | c.*62G>T (n.*62G>T) | gnomAD v4 |
3 | g.39265380C>G | CA2702420016 | CX3CR1 | c.*62G>C (n.*62G>C) | dbSNP |
3 | g.39265381T>A | CA2665159091 | CX3CR1 | c.*61A>T (n.*61A>T) | gnomAD v4 |
3 | g.39265381T>C | CA1358882702 | CX3CR1 | c.*61A>G (n.*61A>G) | dbSNP |
3 | g.39265381T= | CA1358882701 | CX3CR1 | c.*61A= (n.*61A=) | |
3 | g.39265382A>T | CA2577557226 | CX3CR1 | c.*60T>A (n.*60T>A) | |
3 | g.39265383del | CA2665159092 | CX3CR1 | c.*59del (n.*59del) | gnomAD v4 |
3 | g.39265383G= | CA1358882704 | CX3CR1 | c.*59C= (n.*59C=) | |
3 | g.39265383G>T | CA1358882703 | CX3CR1 | c.*59C>A (n.*59C>A) | dbSNP |
3 | g.39265385C>A | CA2665159093 | CX3CR1 | c.*57G>T (n.*57G>T) | gnomAD v4 |
3 | g.39265387G>A | CA2665159094 | CX3CR1 | c.*55C>T (n.*55C>T) | gnomAD v4 |
3 | g.39265388C>A | CA2665159095 | CX3CR1 | c.*54G>T (n.*54G>T) | gnomAD v4 |
3 | g.39265388C= | CA1358882705 | CX3CR1 | c.*54G= (n.*54G=) | |
3 | g.39265388C>T | CA1358882706 | CX3CR1 | c.*54G>A (n.*54G>A) | dbSNP gnomAD v4 |
3 | g.39265389A>G | CA2755914847 | CX3CR1 | c.*53T>C (n.*53T>C) | |
3 | g.39265391C>A | CA906944644 | CX3CR1 | c.*51G>T (n.*51G>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.39265391C= | CA1358882707 | CX3CR1 | c.*51G= (n.*51G=) | |
3 | g.39265392A>G | CA2665159097 | CX3CR1 | c.*50T>C (n.*50T>C) | gnomAD v4 |
3 | g.39265392A>T | CA2665159096 | CX3CR1 | c.*50T>A (n.*50T>A) | gnomAD v4 |
3 | g.39265394G>A | CA2665159098 | CX3CR1 | c.*48C>T (n.*48C>T) | gnomAD v4 |
3 | g.39265397C>A | CA2665159099 | CX3CR1 | c.*45G>T (n.*45G>T) | gnomAD v4 |
3 | g.39265398A>G | CA2665159100 | CX3CR1 | c.*44T>C (n.*44T>C) | gnomAD v4 |
3 | g.39265399G>A | CA2665159101 | CX3CR1 | c.*43C>T (n.*43C>T) | gnomAD v4 |
3 | g.39265399G>T | CA2665159102 | CX3CR1 | c.*43C>A (n.*43C>A) | gnomAD v4 |
3 | g.39265400G>T | CA2665159103 | CX3CR1 | c.*42C>A (n.*42C>A) | gnomAD v4 |
3 | g.39265401A= | CA1358882708 | CX3CR1 | c.*41T= (n.*41T=) | |
3 | g.39265401A>G | CA542616773 | CX3CR1 | c.*41T>C (n.*41T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39265402del | CA2665159104 | CX3CR1 | c.*41del (n.*41del) | gnomAD v4 |
3 | g.39265402A= | CA1358882709 | CX3CR1 | c.*40T= (n.*40T=) | |
3 | g.39265402A>G | CA2326851 | CX3CR1 | c.*40T>C (n.*40T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265403C>A | CA2665159105 | CX3CR1 | c.*39G>T (n.*39G>T) | gnomAD v4 |
3 | g.39265403C= | CA1358882710 | CX3CR1 | c.*39G= (n.*39G=) | |
3 | g.39265403C>T | CA2326852 | CX3CR1 | c.*39G>A (n.*39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265404T>C | CA906944648 | CX3CR1 | c.*38A>G (n.*38A>G) | dbSNP |
3 | g.39265404T= | CA1358882711 | CX3CR1 | c.*38A= (n.*38A=) | |
3 | g.39265405C>G | CA2665159106 | CX3CR1 | c.*37G>C (n.*37G>C) | gnomAD v4 |
3 | g.39265408G>A | CA2665159107 | CX3CR1 | c.*34C>T (n.*34C>T) | gnomAD v4 |
3 | g.39265409G>A | CA542616774 | CX3CR1 | c.*33C>T (n.*33C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265409G= | CA1358882712 | CX3CR1 | c.*33C= (n.*33C=) | |
3 | g.39265409G>T | CA2577557227 | CX3CR1 | c.*33C>A (n.*33C>A) | |
3 | g.39265410T>A | CA2755914848 | CX3CR1 | c.*32A>T (n.*32A>T) | |
3 | g.39265414C>A | CA2665159108 | CX3CR1 | c.*28G>T (n.*28G>T) | gnomAD v4 |
3 | g.39265416G>C | CA2326853 | CX3CR1 | c.*26C>G (n.*26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.39265416G= | CA1358882713 | CX3CR1 | c.*26C= (n.*26C=) | |
3 | g.39265417T>C | CA542616762 | CX3CR1 | c.*25A>G (n.*25A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265417T= | CA1358882714 | CX3CR1 | c.*25A= (n.*25A=) | |
3 | g.39265420A>T | CA2665159109 | CX3CR1 | c.*22T>A (n.*22T>A) | gnomAD v4 |
3 | g.39265421C>A | CA2665159110 | CX3CR1 | c.*21G>T (n.*21G>T) | gnomAD v4 |
3 | g.39265423C>A | CA2665159111 | CX3CR1 | c.*19G>T (n.*19G>T) | gnomAD v4 |
3 | g.39265423C= | CA1358882715 | CX3CR1 | c.*19G= (n.*19G=) | |
3 | g.39265423C>G | CA73027473 | CX3CR1 | c.*19G>C (n.*19G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265429T>C | CA2577557228 | CX3CR1 | c.*13A>G (n.*13A>G) | |
3 | g.39265433G>A | CA2577557229 | CX3CR1 | c.*9C>T (n.*9C>T) | |
3 | g.39265433G>C | CA1358882717 | CX3CR1 | c.*9C>G (n.*9C>G) | dbSNP gnomAD v4 |
3 | g.39265433G= | CA1358882716 | CX3CR1 | c.*9C= (n.*9C=) | |
3 | g.39265436T>C | CA2665159112 | CX3CR1 | c.*6A>G (n.*6A>G) | gnomAD v4 |
3 | g.39265437T>C | CA2665159113 | CX3CR1 | c.*5A>G (n.*5A>G) | gnomAD v4 |
3 | g.39265440C>A | CA2665159114 | CX3CR1 | c.*2G>T (n.*2G>T) | gnomAD v4 |
3 | g.39265440C>T | CA2665159115 | CX3CR1 | c.*2G>A (n.*2G>A) | gnomAD v4 |
3 | g.39265442T>A | CA352198796 | CX3CR1 | c.1068A>T (p.Ter356Cys) c.1164A>T (p.Ter388Cys) | |
3 | g.39265442T>C | CA352198790 | CX3CR1 | c.1068A>G (p.Ter356Trp) c.1164A>G (p.Ter388Trp) | |
3 | g.39265442T>G | CA352198793 | CX3CR1 | c.1068A>C (p.Ter356Cys) c.1164A>C (p.Ter388Cys) | |
3 | g.39265443C>A | CA352198797 | CX3CR1 | c.1067G>T (p.Ter356Leu) c.1163G>T (p.Ter388Leu) | |
3 | g.39265443C>G | CA352198798 | CX3CR1 | c.1067G>C (p.Ter356Ser) c.1163G>C (p.Ter388Ser) | |
3 | g.39265443C>T | CA433147197 | CX3CR1 | c.1067G>A (p.Ter356=) c.1163G>A (p.Ter388=) | |
3 | g.39265444A= | CA1358882718 | CX3CR1 | c.1066T= (p.Ter356=) c.1162T= (p.Ter388=) | |
3 | g.39265444A>C | CA352198800 | CX3CR1 | c.1066T>G (p.Ter356Gly) c.1162T>G (p.Ter388Gly) | |
3 | g.39265444A>G | CA352198801 | CX3CR1 | c.1066T>C (p.Ter356Arg) c.1162T>C (p.Ter388Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265444A>T | CA352198804 | CX3CR1 | c.1066T>A (p.Ter356Arg) c.1162T>A (p.Ter388Arg) | |
3 | g.39265445G>A | CA433147198 | CX3CR1 | c.1065C>T (p.Leu355=) c.1161C>T (p.Leu387=) | |
3 | g.39265445G>C | CA433147199 | CX3CR1 | c.1065C>G (p.Leu355=) c.1161C>G (p.Leu387=) | |
3 | g.39265445G>T | CA433147200 | CX3CR1 | c.1065C>A (p.Leu355=) c.1161C>A (p.Leu387=) | |
3 | g.39265446A>C | CA352198808 | CX3CR1 | c.1064T>G (p.Leu355Arg) c.1160T>G (p.Leu387Arg) | |
3 | g.39265446A>G | CA352198811 | CX3CR1 | c.1064T>C (p.Leu355Pro) c.1160T>C (p.Leu387Pro) | |
3 | g.39265446A>T | CA352198813 | CX3CR1 | c.1064T>A (p.Leu355His) c.1160T>A (p.Leu387His) | |
3 | g.39265447G>A | CA352198818 | CX3CR1 | c.1063C>T (p.Leu355Phe) c.1159C>T (p.Leu387Phe) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.39265447G>C | CA352198821 | CX3CR1 | c.1063C>G (p.Leu355Val) c.1159C>G (p.Leu387Val) | |
3 | g.39265447G>T | CA352198823 | CX3CR1 | c.1063C>A (p.Leu355Ile) c.1159C>A (p.Leu387Ile) | |
3 | g.39265448A>C | CA433147201 | CX3CR1 | c.1062T>G (p.Leu354=) c.1158T>G (p.Leu386=) | |
3 | g.39265448A>G | CA433147202 | CX3CR1 | c.1062T>C (p.Leu354=) c.1158T>C (p.Leu386=) | |
3 | g.39265448A>T | CA433147203 | CX3CR1 | c.1062T>A (p.Leu354=) c.1158T>A (p.Leu386=) | |
3 | g.39265449A>C | CA352198832 | CX3CR1 | c.1061T>G (p.Leu354Arg) c.1157T>G (p.Leu386Arg) | |
3 | g.39265449A>G | CA352198829 | CX3CR1 | c.1061T>C (p.Leu354Pro) c.1157T>C (p.Leu386Pro) | |
3 | g.39265449A>T | CA352198827 | CX3CR1 | c.1061T>A (p.Leu354His) c.1157T>A (p.Leu386His) | |
3 | g.39265450G>A | CA352198835 | CX3CR1 | c.1060C>T (p.Leu354Phe) c.1156C>T (p.Leu386Phe) | |
3 | g.39265450G>C | CA352198836 | CX3CR1 | c.1060C>G (p.Leu354Val) c.1156C>G (p.Leu386Val) | |
3 | g.39265450G>T | CA352198837 | CX3CR1 | c.1060C>A (p.Leu354Ile) c.1156C>A (p.Leu386Ile) | |
3 | g.39265451G>A | CA433147204 | CX3CR1 | c.1059C>T (p.Leu353=) c.1155C>T (p.Leu385=) | COSMIC COSMIC |
3 | g.39265451G>C | CA433147205 | CX3CR1 | c.1059C>G (p.Leu353=) c.1155C>G (p.Leu385=) | dbSNP gnomAD v4 |
3 | g.39265451G= | CA1358882719 | CX3CR1 | c.1059C= (p.Leu353=) c.1155C= (p.Leu385=) | |
3 | g.39265451G>T | CA433147206 | CX3CR1 | c.1059C>A (p.Leu353=) c.1155C>A (p.Leu385=) | |
3 | g.39265452A= | CA1358882720 | CX3CR1 | c.1058T= (p.Leu353=) c.1154T= (p.Leu385=) | |
3 | g.39265452A>C | CA352198838 | CX3CR1 | c.1058T>G (p.Leu353Arg) c.1154T>G (p.Leu385Arg) | |
3 | g.39265452A>G | CA73027475 | CX3CR1 | c.1058T>C (p.Leu353Pro) c.1154T>C (p.Leu385Pro) | dbSNP gnomAD v4 |
3 | g.39265452A>T | CA352198843 | CX3CR1 | c.1058T>A (p.Leu353His) c.1154T>A (p.Leu385His) | |
3 | g.39265453G>A | CA352198847 | CX3CR1 | c.1057C>T (p.Leu353Phe) c.1153C>T (p.Leu385Phe) | |
3 | g.39265453G>C | CA352198850 | CX3CR1 | c.1057C>G (p.Leu353Val) c.1153C>G (p.Leu385Val) | dbSNP gnomAD v4 |
3 | g.39265453G= | CA1358882721 | CX3CR1 | c.1057C= (p.Leu353=) c.1153C= (p.Leu385=) | |
3 | g.39265453G>T | CA352198852 | CX3CR1 | c.1057C>A (p.Leu353Ile) c.1153C>A (p.Leu385Ile) | dbSNP gnomAD v4 |
3 | g.39265454C>A | CA352198856 | CX3CR1 | c.1056G>T (p.Leu352Phe) c.1152G>T (p.Leu384Phe) | gnomAD v4 |
3 | g.39265454C>G | CA352198858 | CX3CR1 | c.1056G>C (p.Leu352Phe) c.1152G>C (p.Leu384Phe) | gnomAD v4 |
3 | g.39265454C>T | CA433147207 | CX3CR1 | c.1056G>A (p.Leu352=) c.1152G>A (p.Leu384=) | |
3 | g.39265455A>C | CA352198861 | CX3CR1 | c.1055T>G (p.Leu352Trp) c.1151T>G (p.Leu384Trp) | |
3 | g.39265455A>G | CA352198863 | CX3CR1 | c.1055T>C (p.Leu352Ser) c.1151T>C (p.Leu384Ser) | dbSNP |
3 | g.39265455A>T | CA352198866 | CX3CR1 | c.1055T>A (p.Leu352Ter) c.1151T>A (p.Leu384Ter) | |
3 | g.39265456A= | CA1358882722 | CX3CR1 | c.1054T= (p.Leu352=) c.1150T= (p.Leu384=) | |
3 | g.39265456A>C | CA352198869 | CX3CR1 | c.1054T>G (p.Leu352Val) c.1150T>G (p.Leu384Val) | |
3 | g.39265456A>G | CA2326854 | CX3CR1 | c.1054T>C (p.Leu352=) c.1150T>C (p.Leu384=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265456A>T | CA2326855 | CX3CR1 | c.1054T>A (p.Leu352Met) c.1150T>A (p.Leu384Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265457T>A | CA433147208 | CX3CR1 | c.1053A>T (p.Ala351=) c.1149A>T (p.Ala383=) | |
3 | g.39265457T>C | CA433147209 | CX3CR1 | c.1053A>G (p.Ala351=) c.1149A>G (p.Ala383=) | |
3 | g.39265457T>G | CA73027486 | CX3CR1 | c.1053A>C (p.Ala351=) c.1149A>C (p.Ala383=) | dbSNP |
3 | g.39265457T= | CA1358882723 | CX3CR1 | c.1053A= (p.Ala351=) c.1149A= (p.Ala383=) | |
3 | g.39265458G>A | CA352198873 | CX3CR1 | c.1052C>T (p.Ala351Val) c.1148C>T (p.Ala383Val) | COSMIC COSMIC |
3 | g.39265458G>C | CA352198875 | CX3CR1 | c.1052C>G (p.Ala351Gly) c.1148C>G (p.Ala383Gly) | |
3 | g.39265458G= | CA1358882724 | CX3CR1 | c.1052C= (p.Ala351=) c.1148C= (p.Ala383=) | |
3 | g.39265458G>T | CA2326856 | CX3CR1 | c.1052C>A (p.Ala351Glu) c.1148C>A (p.Ala383Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265459C>A | CA352198882 | CX3CR1 | c.1051G>T (p.Ala351Ser) c.1147G>T (p.Ala383Ser) | gnomAD v4 |
3 | g.39265459C>G | CA352198884 | CX3CR1 | c.1051G>C (p.Ala351Pro) c.1147G>C (p.Ala383Pro) | |
3 | g.39265459C>T | CA352198905 | CX3CR1 | c.1051G>A (p.Ala351Thr) c.1147G>A (p.Ala383Thr) | |
3 | g.39265460A= | CA1358882725 | CX3CR1 | c.1050T= (p.Asp350=) c.1146T= (p.Asp382=) | |
3 | g.39265460A>C | CA2326857 | CX3CR1 | c.1050T>G (p.Asp350Glu) c.1146T>G (p.Asp382Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39265460A>G | CA433147210 | CX3CR1 | c.1050T>C (p.Asp350=) c.1146T>C (p.Asp382=) | dbSNP gnomAD v4 |
3 | g.39265460A>T | CA352198913 | CX3CR1 | c.1050T>A (p.Asp350Glu) c.1146T>A (p.Asp382Glu) | |
3 | g.39265461T>A | CA352198917 | CX3CR1 | c.1049A>T (p.Asp350Val) c.1145A>T (p.Asp382Val) | |
3 | g.39265461T>C | CA352198918 | CX3CR1 | c.1049A>G (p.Asp350Gly) c.1145A>G (p.Asp382Gly) | |
3 | g.39265461T>G | CA352198921 | CX3CR1 | c.1049A>C (p.Asp350Ala) c.1145A>C (p.Asp382Ala) | |
3 | g.39265462C>A | CA352198927 | CX3CR1 | c.1048G>T (p.Asp350Tyr) c.1144G>T (p.Asp382Tyr) | |
3 | g.39265462C= | CA1358882726 | CX3CR1 | c.1048G= (p.Asp350=) c.1144G= (p.Asp382=) | |
3 | g.39265462C>G | CA352198926 | CX3CR1 | c.1048G>C (p.Asp350His) c.1144G>C (p.Asp382His) | |
3 | g.39265462C>T | CA2326858 | CX3CR1 | c.1048G>A (p.Asp350Asn) c.1144G>A (p.Asp382Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.39265463T>A | CA433147211 | CX3CR1 | c.1047A>T (p.Gly349=) c.1143A>T (p.Gly381=) | |
3 | g.39265463T>C | CA2326859 | CX3CR1 | c.1047A>G (p.Gly349=) c.1143A>G (p.Gly381=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.39265463T>G | CA433147212 | CX3CR1 | c.1047A>C (p.Gly349=) c.1143A>C (p.Gly381=) | |
3 | g.39265463T= | CA1358882727 | CX3CR1 | c.1047A= (p.Gly349=) c.1143A= (p.Gly381=) | |
3 | g.39265464C>A | CA352198928 | CX3CR1 | c.1046G>T (p.Gly349Val) c.1142G>T (p.Gly381Val) | |
3 | g.39265464C>G | CA352198930 | CX3CR1 | c.1046G>C (p.Gly349Ala) c.1142G>C (p.Gly381Ala) | |
3 | g.39265464C>T | CA352198934 | CX3CR1 | c.1046G>A (p.Gly349Glu) c.1142G>A (p.Gly381Glu) | |
3 | g.39265465C>A | CA352198937 | CX3CR1 | c.1045G>T (p.Gly349Ter) c.1141G>T (p.Gly381Ter) | |
3 | g.39265465C>G | CA352198943 | CX3CR1 | c.1045G>C (p.Gly349Arg) c.1141G>C (p.Gly381Arg) | |
3 | g.39265465C>T | CA352198945 | CX3CR1 | c.1045G>A (p.Gly349Arg) c.1141G>A (p.Gly381Arg) |