Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169552677C>A | CA343128841 | F5 | c.1176G>T (p.Lys392Asn) c.765G>T (p.Lys255Asn) | |
1 | g.169552677C>G | CA343128845 | F5 | c.1176G>C (p.Lys392Asn) c.765G>C (p.Lys255Asn) | COSMIC |
1 | g.169552677C>T | CA421732557 | F5 | c.1176G>A (p.Lys392=) c.765G>A (p.Lys255=) | |
1 | g.169552678T>A | CA343128848 | F5 | c.1175A>T (p.Lys392Met) c.764A>T (p.Lys255Met) | |
1 | g.169552678T>C | CA1234397 | F5 | c.1175A>G (p.Lys392Arg) c.764A>G (p.Lys255Arg) | dbSNP ExAC gnomAD v2 |
1 | g.169552678T>G | CA343128851 | F5 | c.1175A>C (p.Lys392Thr) c.764A>C (p.Lys255Thr) | |
1 | g.169552678T= | CA1143643189 | F5 | c.1175A= (p.Lys392=) c.764A= (p.Lys255=) | |
1 | g.169552679T>A | CA343128856 | F5 | c.1174A>T (p.Lys392Ter) c.763A>T (p.Lys255Ter) | |
1 | g.169552679T>C | CA343128852 | F5 | c.1174A>G (p.Lys392Glu) c.763A>G (p.Lys255Glu) | |
1 | g.169552679T>G | CA343128854 | F5 | c.1174A>C (p.Lys392Gln) c.763A>C (p.Lys255Gln) | |
1 | g.169552680A>C | CA343128859 | F5 | c.1173T>G (p.Tyr391Ter) c.762T>G (p.Tyr254Ter) | |
1 | g.169552680A>G | CA421732558 | F5 | c.1173T>C (p.Tyr391=) c.762T>C (p.Tyr254=) | |
1 | g.169552680A>T | CA343128862 | F5 | c.1173T>A (p.Tyr391Ter) c.762T>A (p.Tyr254Ter) | |
1 | g.169552681T>A | CA343128863 | F5 | c.1172A>T (p.Tyr391Phe) c.761A>T (p.Tyr254Phe) | |
1 | g.169552681T>C | CA1234398 | F5 | c.1172A>G (p.Tyr391Cys) c.761A>G (p.Tyr254Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552681T>G | CA343128864 | F5 | c.1172A>C (p.Tyr391Ser) c.761A>C (p.Tyr254Ser) | |
1 | g.169552681T= | CA1206146906 | F5 | c.1172A= (p.Tyr391=) c.761A= (p.Tyr254=) | |
1 | g.169552682A>C | CA343128865 | F5 | c.1171T>G (p.Tyr391Asp) c.760T>G (p.Tyr254Asp) | |
1 | g.169552682A>G | CA343128866 | F5 | c.1171T>C (p.Tyr391His) c.760T>C (p.Tyr254His) | |
1 | g.169552682A>T | CA343128867 | F5 | c.1171T>A (p.Tyr391Asn) c.760T>A (p.Tyr254Asn) | |
1 | g.169552683A= | CA1206146908 | F5 | c.1170T= (p.His390=) c.759T= (p.His253=) | |
1 | g.169552683A>C | CA343128873 | F5 | c.1170T>G (p.His390Gln) c.759T>G (p.His253Gln) | |
1 | g.169552683A>G | CA421732561 | F5 | c.1170T>C (p.His390=) c.759T>C (p.His253=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552683A>T | CA343128875 | F5 | c.1170T>A (p.His390Gln) c.759T>A (p.His253Gln) | |
1 | g.169552684T>A | CA343128879 | F5 | c.1169A>T (p.His390Leu) c.758A>T (p.His253Leu) | |
1 | g.169552684T>C | CA343128882 | F5 | c.1169A>G (p.His390Arg) c.758A>G (p.His253Arg) | gnomAD v4 |
1 | g.169552684T>G | CA343128885 | F5 | c.1169A>C (p.His390Pro) c.758A>C (p.His253Pro) | |
1 | g.169552685G>A | CA343128890 | F5 | c.1168C>T (p.His390Tyr) c.757C>T (p.His253Tyr) | |
1 | g.169552685G>C | CA343128894 | F5 | c.1168C>G (p.His390Asp) c.757C>G (p.His253Asp) | gnomAD v4 |
1 | g.169552685G>T | CA343128892 | F5 | c.1168C>A (p.His390Asn) c.757C>A (p.His253Asn) | COSMIC |
1 | g.169552686T>A | CA343128896 | F5 | c.1167A>T (p.Lys389Asn) c.756A>T (p.Lys252Asn) | |
1 | g.169552686T>C | CA421732564 | F5 | c.1167A>G (p.Lys389=) c.756A>G (p.Lys252=) | |
1 | g.169552686T>G | CA343128898 | F5 | c.1167A>C (p.Lys389Asn) c.756A>C (p.Lys252Asn) | |
1 | g.169552687T>A | CA343128911 | F5 | c.1166A>T (p.Lys389Ile) c.755A>T (p.Lys252Ile) | |
1 | g.169552687T>C | CA343128913 | F5 | c.1166A>G (p.Lys389Arg) c.755A>G (p.Lys252Arg) | |
1 | g.169552687T>G | CA343128918 | F5 | c.1166A>C (p.Lys389Thr) c.755A>C (p.Lys252Thr) | |
1 | g.169552688T>A | CA343128923 | F5 | c.1165A>T (p.Lys389Ter) c.754A>T (p.Lys252Ter) | |
1 | g.169552688T>C | CA343128929 | F5 | c.1165A>G (p.Lys389Glu) c.754A>G (p.Lys252Glu) | |
1 | g.169552688T>G | CA343128932 | F5 | c.1165A>C (p.Lys389Gln) c.754A>C (p.Lys252Gln) | |
1 | g.169552689T>A | CA421732565 | F5 | c.1164A>T (p.Gly388=) c.753A>T (p.Gly251=) | |
1 | g.169552689T>C | CA421732566 | F5 | c.1164A>G (p.Gly388=) c.753A>G (p.Gly251=) | |
1 | g.169552689T>G | CA32388720 | F5 | c.1164A>C (p.Gly388=) c.753A>C (p.Gly251=) | dbSNP gnomAD v4 |
1 | g.169552689T= | CA1206146913 | F5 | c.1164A= (p.Gly388=) c.753A= (p.Gly251=) | |
1 | g.169552689_169552690delinsTC | CA1206146911 | F5 | c.1163_1164delinsGA (p.Gly388=) c.752_753delinsGA (p.Gly251=) | |
1 | g.169552690C>A | CA343128937 | F5 | c.1163G>T (p.Gly388Val) c.752G>T (p.Gly251Val) | |
1 | g.169552690C>G | CA343128939 | F5 | c.1163G>C (p.Gly388Ala) c.752G>C (p.Gly251Ala) | |
1 | g.169552690C>T | CA343128943 | F5 | c.1163G>A (p.Gly388Glu) c.752G>A (p.Gly251Glu) | |
1 | g.169552691del | CA1234399 | F5 | c.1163del (p.Gly388GlufsTer22) c.752del (p.Gly251GlufsTer22) | dbSNP ExAC gnomAD v2 |
1 | g.169552691C>A | CA343128975 | F5 | c.1162G>T (p.Gly388Ter) c.751G>T (p.Gly251Ter) | |
1 | g.169552691C>G | CA343128961 | F5 | c.1162G>C (p.Gly388Arg) c.751G>C (p.Gly251Arg) | |
1 | g.169552691C>T | CA343128971 | F5 | c.1162G>A (p.Gly388Arg) c.751G>A (p.Gly251Arg) | |
1 | g.169552692A= | CA1148239639 | F5 | c.1161T= (p.Ile387=) c.750T= (p.Ile250=) | |
1 | g.169552692A>C | CA343128982 | F5 | c.1161T>G (p.Ile387Met) c.750T>G (p.Ile250Met) | |
1 | g.169552692A>G | CA421732567 | F5 | c.1161T>C (p.Ile387=) c.750T>C (p.Ile250=) | |
1 | g.169552692A>T | CA1234400 | F5 | c.1161T>A (p.Ile387=) c.750T>A (p.Ile250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552693A= | CA1141580512 | F5 | c.1160T= (p.Ile387=) c.749T= (p.Ile250=) | |
1 | g.169552693A>C | CA343128987 | F5 | c.1160T>G (p.Ile387Ser) c.749T>G (p.Ile250Ser) | |
1 | g.169552693A>G | CA251561 | F5 | c.1160T>C (p.Ile387Thr) c.749T>C (p.Ile250Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.169552693A>T | CA343128989 | F5 | c.1160T>A (p.Ile387Asn) c.749T>A (p.Ile250Asn) | |
1 | g.169552694T>A | CA343128991 | F5 | c.1159A>T (p.Ile387Phe) c.748A>T (p.Ile250Phe) | |
1 | g.169552694T>C | CA343128995 | F5 | c.1159A>G (p.Ile387Val) c.748A>G (p.Ile250Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552694T>G | CA343128998 | F5 | c.1159A>C (p.Ile387Leu) c.748A>C (p.Ile250Leu) | |
1 | g.169552694T= | CA1206146927 | F5 | c.1159A= (p.Ile387=) c.748A= (p.Ile250=) | |
1 | g.169552695T>A | CA343129002 | F5 | c.1158A>T (p.Gln386His) c.747A>T (p.Gln249His) | |
1 | g.169552695T>C | CA1234401 | F5 | c.1158A>G (p.Gln386=) c.747A>G (p.Gln249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552695T>G | CA343129021 | F5 | c.1158A>C (p.Gln386His) c.747A>C (p.Gln249His) | gnomAD v4 |
1 | g.169552695T= | CA1142252155 | F5 | c.1158A= (p.Gln386=) c.747A= (p.Gln249=) | |
1 | g.169552696T>A | CA343129028 | F5 | c.1157A>T (p.Gln386Leu) c.746A>T (p.Gln249Leu) | |
1 | g.169552696T>C | CA343129027 | F5 | c.1157A>G (p.Gln386Arg) c.746A>G (p.Gln249Arg) | |
1 | g.169552696T>G | CA343129026 | F5 | c.1157A>C (p.Gln386Pro) c.746A>C (p.Gln249Pro) | |
1 | g.169552697G>A | CA343129030 | F5 | c.1156C>T (p.Gln386Ter) c.745C>T (p.Gln249Ter) | |
1 | g.169552697G>C | CA343129036 | F5 | c.1156C>G (p.Gln386Glu) c.745C>G (p.Gln249Glu) | |
1 | g.169552697G>T | CA343129031 | F5 | c.1156C>A (p.Gln386Lys) c.745C>A (p.Gln249Lys) | gnomAD v4 |
1 | g.169552698G>A | CA421732568 | F5 | c.1155C>T (p.Asn385=) c.744C>T (p.Asn248=) | |
1 | g.169552698G>C | CA343129043 | F5 | c.1155C>G (p.Asn385Lys) c.744C>G (p.Asn248Lys) | gnomAD v4 |
1 | g.169552698G>T | CA343129046 | F5 | c.1155C>A (p.Asn385Lys) c.744C>A (p.Asn248Lys) | |
1 | g.169552699T>A | CA343129049 | F5 | c.1154A>T (p.Asn385Ile) c.743A>T (p.Asn248Ile) | |
1 | g.169552699T>C | CA1234402 | F5 | c.1154A>G (p.Asn385Ser) c.743A>G (p.Asn248Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552699T>G | CA343129059 | F5 | c.1154A>C (p.Asn385Thr) c.743A>C (p.Asn248Thr) | |
1 | g.169552699T= | CA1143818117 | F5 | c.1154A= (p.Asn385=) c.743A= (p.Asn248=) | |
1 | g.169552700T>A | CA343129067 | F5 | c.1153A>T (p.Asn385Tyr) c.742A>T (p.Asn248Tyr) | |
1 | g.169552700T>C | CA343129078 | F5 | c.1153A>G (p.Asn385Asp) c.742A>G (p.Asn248Asp) | gnomAD v4 |
1 | g.169552700T>G | CA343129082 | F5 | c.1153A>C (p.Asn385His) c.742A>C (p.Asn248His) | |
1 | g.169552701T>A | CA421732569 | F5 | c.1152A>T (p.Ser384=) c.741A>T (p.Ser247=) | |
1 | g.169552701T>C | CA421732570 | F5 | c.1152A>G (p.Ser384=) c.741A>G (p.Ser247=) | |
1 | g.169552701T>G | CA421732571 | F5 | c.1152A>C (p.Ser384=) c.741A>C (p.Ser247=) | gnomAD v4 |
1 | g.169552702G>A | CA343129088 | F5 | c.1151C>T (p.Ser384Leu) c.740C>T (p.Ser247Leu) | gnomAD v4 |
1 | g.169552702G>C | CA343129098 | F5 | c.1151C>G (p.Ser384Ter) c.740C>G (p.Ser247Ter) | dbSNP gnomAD v4 |
1 | g.169552702G= | CA1206146939 | F5 | c.1151C= (p.Ser384=) c.740C= (p.Ser247=) | |
1 | g.169552702G>T | CA343129100 | F5 | c.1151C>A (p.Ser384Ter) c.740C>A (p.Ser247Ter) | |
1 | g.169552703A>C | CA343129108 | F5 | c.1150T>G (p.Ser384Ala) c.739T>G (p.Ser247Ala) | |
1 | g.169552703A>G | CA343129111 | F5 | c.1150T>C (p.Ser384Pro) c.739T>C (p.Ser247Pro) | gnomAD v4 |
1 | g.169552703A>T | CA343129114 | F5 | c.1150T>A (p.Ser384Thr) c.739T>A (p.Ser247Thr) | |
1 | g.169552704G>A | CA421732572 | F5 | c.1149C>T (p.Phe383=) c.738C>T (p.Phe246=) | dbSNP gnomAD v4 |
1 | g.169552704G>C | CA343129120 | F5 | c.1149C>G (p.Phe383Leu) c.738C>G (p.Phe246Leu) | |
1 | g.169552704G= | CA1206146943 | F5 | c.1149C= (p.Phe383=) c.738C= (p.Phe246=) | |
1 | g.169552704G>T | CA343129117 | F5 | c.1149C>A (p.Phe383Leu) c.738C>A (p.Phe246Leu) | |
1 | g.169552705A= | CA1206146945 | F5 | c.1148T= (p.Phe383=) c.737T= (p.Phe246=) | |
1 | g.169552705A>C | CA343129125 | F5 | c.1148T>G (p.Phe383Cys) c.737T>G (p.Phe246Cys) | |
1 | g.169552705A>G | CA343129126 | F5 | c.1148T>C (p.Phe383Ser) c.737T>C (p.Phe246Ser) | dbSNP |
1 | g.169552705A>T | CA343129127 | F5 | c.1148T>A (p.Phe383Tyr) c.737T>A (p.Phe246Tyr) | |
1 | g.169552706A= | CA1206146947 | F5 | c.1147T= (p.Phe383=) c.736T= (p.Phe246=) | |
1 | g.169552706A>C | CA343129128 | F5 | c.1147T>G (p.Phe383Val) c.736T>G (p.Phe246Val) | |
1 | g.169552706A>G | CA32388728 | F5 | c.1147T>C (p.Phe383Leu) c.736T>C (p.Phe246Leu) | dbSNP |
1 | g.169552706A>T | CA343129134 | F5 | c.1147T>A (p.Phe383Ile) c.736T>A (p.Phe246Ile) | |
1 | g.169552707A>C | CA343129139 | F5 | c.1146T>G (p.Asn382Lys) c.735T>G (p.Asn245Lys) | |
1 | g.169552707A>G | CA421732573 | F5 | c.1146T>C (p.Asn382=) c.735T>C (p.Asn245=) | gnomAD v4 |
1 | g.169552707A>T | CA343129142 | F5 | c.1146T>A (p.Asn382Lys) c.735T>A (p.Asn245Lys) | |
1 | g.169552708T>A | CA343129146 | F5 | c.1145A>T (p.Asn382Ile) c.734A>T (p.Asn245Ile) | |
1 | g.169552708T>C | CA343129150 | F5 | c.1145A>G (p.Asn382Ser) c.734A>G (p.Asn245Ser) | |
1 | g.169552708T>G | CA343129152 | F5 | c.1145A>C (p.Asn382Thr) c.734A>C (p.Asn245Thr) | |
1 | g.169552709T>A | CA343129168 | F5 | c.1144A>T (p.Asn382Tyr) c.733A>T (p.Asn245Tyr) | |
1 | g.169552709T>C | CA343129162 | F5 | c.1144A>G (p.Asn382Asp) c.733A>G (p.Asn245Asp) | |
1 | g.169552709T>G | CA343129157 | F5 | c.1144A>C (p.Asn382His) c.733A>C (p.Asn245His) | |
1 | g.169552710A= | CA1148348567 | F5 | c.1143T= (p.Asp381=) c.732T= (p.Asp244=) | |
1 | g.169552710A>C | CA343129175 | F5 | c.1143T>G (p.Asp381Glu) c.732T>G (p.Asp244Glu) | |
1 | g.169552710A>G | CA421732574 | F5 | c.1143T>C (p.Asp381=) c.732T>C (p.Asp244=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552710A>T | CA1234403 | F5 | c.1143T>A (p.Asp381Glu) c.732T>A (p.Asp244Glu) | dbSNP ExAC gnomAD v2 |
1 | g.169552711T>A | CA343129184 | F5 | c.1142A>T (p.Asp381Val) c.731A>T (p.Asp244Val) | |
1 | g.169552711T>C | CA343129187 | F5 | c.1142A>G (p.Asp381Gly) c.731A>G (p.Asp244Gly) | |
1 | g.169552711T>G | CA343129189 | F5 | c.1142A>C (p.Asp381Ala) c.731A>C (p.Asp244Ala) | |
1 | g.169552712C>A | CA343129190 | F5 | c.1141G>T (p.Asp381Tyr) c.730G>T (p.Asp244Tyr) | |
1 | g.169552712C= | CA1206146953 | F5 | c.1141G= (p.Asp381=) c.730G= (p.Asp244=) | |
1 | g.169552712C>G | CA343129192 | F5 | c.1141G>C (p.Asp381His) c.730G>C (p.Asp244His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552712C>T | CA343129196 | F5 | c.1141G>A (p.Asp381Asn) c.730G>A (p.Asp244Asn) | dbSNP |
1 | g.169552713C>A | CA343129200 | F5 | c.1140G>T (p.Leu380Phe) c.729G>T (p.Leu243Phe) | |
1 | g.169552713C= | CA1206146957 | F5 | c.1140G= (p.Leu380=) c.729G= (p.Leu243=) | |
1 | g.169552713C>G | CA1234404 | F5 | c.1140G>C (p.Leu380Phe) c.729G>C (p.Leu243Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552713C>T | CA32388732 | F5 | c.1140G>A (p.Leu380=) c.729G>A (p.Leu243=) | dbSNP |
1 | g.169552714A>C | CA343129211 | F5 | c.1139T>G (p.Leu380Trp) c.728T>G (p.Leu243Trp) | gnomAD v4 |
1 | g.169552714A>G | CA343129205 | F5 | c.1139T>C (p.Leu380Ser) c.728T>C (p.Leu243Ser) | |
1 | g.169552714A>T | CA343129203 | F5 | c.1139T>A (p.Leu380Ter) c.728T>A (p.Leu243Ter) | |
1 | g.169552715A>C | CA343129214 | F5 | c.1138T>G (p.Leu380Val) c.727T>G (p.Leu243Val) | |
1 | g.169552715A>G | CA421732575 | F5 | c.1138T>C (p.Leu380=) c.727T>C (p.Leu243=) | gnomAD v4 |
1 | g.169552715A>T | CA343129217 | F5 | c.1138T>A (p.Leu380Met) c.727T>A (p.Leu243Met) | |
1 | g.169552716A= | CA1206146962 | F5 | c.1137T= (p.His379=) c.726T= (p.His242=) | |
1 | g.169552716A>C | CA343129225 | F5 | c.1137T>G (p.His379Gln) c.726T>G (p.His242Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552716A>G | CA1234405 | F5 | c.1137T>C (p.His379=) c.726T>C (p.His242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552716A>T | CA343129238 | F5 | c.1137T>A (p.His379Gln) c.726T>A (p.His242Gln) | |
1 | g.169552717T>A | CA343129243 | F5 | c.1136A>T (p.His379Leu) c.725A>T (p.His242Leu) | |
1 | g.169552717T>C | CA343129255 | F5 | c.1136A>G (p.His379Arg) c.725A>G (p.His242Arg) | |
1 | g.169552717T>G | CA343129262 | F5 | c.1136A>C (p.His379Pro) c.725A>C (p.His242Pro) | |
1 | g.169552718G>A | CA343129268 | F5 | c.1135C>T (p.His379Tyr) c.724C>T (p.His242Tyr) | |
1 | g.169552718G>C | CA343129282 | F5 | c.1135C>G (p.His379Asp) c.724C>G (p.His242Asp) | |
1 | g.169552718G>T | CA343129289 | F5 | c.1135C>A (p.His379Asn) c.724C>A (p.His242Asn) | |
1 | g.169552719C>A | CA343129293 | F5 | c.1134G>T (p.Gln378His) c.723G>T (p.Gln241His) | |
1 | g.169552719C>G | CA343129298 | F5 | c.1134G>C (p.Gln378His) c.723G>C (p.Gln241His) | |
1 | g.169552719C>T | CA421732576 | F5 | c.1134G>A (p.Gln378=) c.723G>A (p.Gln241=) | |
1 | g.169552720T>A | CA343129306 | F5 | c.1133A>T (p.Gln378Leu) c.722A>T (p.Gln241Leu) | |
1 | g.169552720T>C | CA343129317 | F5 | c.1133A>G (p.Gln378Arg) c.722A>G (p.Gln241Arg) | |
1 | g.169552720T>G | CA343129300 | F5 | c.1133A>C (p.Gln378Pro) c.722A>C (p.Gln241Pro) | |
1 | g.169552721G>A | CA343129324 | F5 | c.1132C>T (p.Gln378Ter) c.721C>T (p.Gln241Ter) | gnomAD v4 |
1 | g.169552721G>C | CA1234406 | F5 | c.1132C>G (p.Gln378Glu) c.721C>G (p.Gln241Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552721G= | CA1206146965 | F5 | c.1132C= (p.Gln378=) c.721C= (p.Gln241=) | |
1 | g.169552721G>T | CA343129321 | F5 | c.1132C>A (p.Gln378Lys) c.721C>A (p.Gln241Lys) | |
1 | g.169552722A>C | CA421732577 | F5 | c.1131T>G (p.Ser377=) c.720T>G (p.Ser240=) | |
1 | g.169552722A>G | CA421732578 | F5 | c.1131T>C (p.Ser377=) c.720T>C (p.Ser240=) | |
1 | g.169552722A>T | CA421732579 | F5 | c.1131T>A (p.Ser377=) c.720T>A (p.Ser240=) | |
1 | g.169552723G>A | CA343129329 | F5 | c.1130C>T (p.Ser377Phe) c.719C>T (p.Ser240Phe) | |
1 | g.169552723G>C | CA343129336 | F5 | c.1130C>G (p.Ser377Cys) c.719C>G (p.Ser240Cys) | |
1 | g.169552723G>T | CA343129340 | F5 | c.1130C>A (p.Ser377Tyr) c.719C>A (p.Ser240Tyr) | |
1 | g.169552724A>C | CA343129354 | F5 | c.1129T>G (p.Ser377Ala) c.718T>G (p.Ser240Ala) | |
1 | g.169552724A>G | CA343129356 | F5 | c.1129T>C (p.Ser377Pro) c.718T>C (p.Ser240Pro) | |
1 | g.169552724A>T | CA343129358 | F5 | c.1129T>A (p.Ser377Thr) c.718T>A (p.Ser240Thr) | |
1 | g.169552725C>A | CA1234407 | F5 | c.1128G>T (p.Arg376Ser) c.717G>T (p.Arg239Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552725C= | CA1143910965 | F5 | c.1128G= (p.Arg376=) c.717G= (p.Arg239=) | |
1 | g.169552725C>G | CA343129367 | F5 | c.1128G>C (p.Arg376Ser) c.717G>C (p.Arg239Ser) | |
1 | g.169552725C>T | CA421732580 | F5 | c.1128G>A (p.Arg376=) c.717G>A (p.Arg239=) | COSMIC |
1 | g.169552726C>A | CA343129370 | F5 | c.1127G>T (p.Arg376Met) c.716G>T (p.Arg239Met) | |
1 | g.169552726C>G | CA343129378 | F5 | c.1127G>C (p.Arg376Thr) c.716G>C (p.Arg239Thr) | |
1 | g.169552726C>T | CA343129380 | F5 | c.1127G>A (p.Arg376Lys) c.716G>A (p.Arg239Lys) | COSMIC |
1 | g.169552727T>A | CA343129393 | F5 | c.1126A>T (p.Arg376Trp) c.715A>T (p.Arg239Trp) | |
1 | g.169552727T>C | CA343129386 | F5 | c.1126A>G (p.Arg376Gly) c.715A>G (p.Arg239Gly) | |
1 | g.169552727T>G | CA421732581 | F5 | c.1126A>C (p.Arg376=) c.715A>C (p.Arg239=) | |
1 | g.169552728G>A | CA421732582 | F5 | c.1125C>T (p.Tyr375=) c.714C>T (p.Tyr238=) | |
1 | g.169552728G>C | CA343129400 | F5 | c.1125C>G (p.Tyr375Ter) c.714C>G (p.Tyr238Ter) | dbSNP |
1 | g.169552728G= | CA1206146973 | F5 | c.1125C= (p.Tyr375=) c.714C= (p.Tyr238=) | |
1 | g.169552728G>T | CA343129404 | F5 | c.1125C>A (p.Tyr375Ter) c.714C>A (p.Tyr238Ter) | |
1 | g.169552729T>A | CA343129411 | F5 | c.1124A>T (p.Tyr375Phe) c.713A>T (p.Tyr238Phe) | |
1 | g.169552729T>C | CA1234408 | F5 | c.1124A>G (p.Tyr375Cys) c.713A>G (p.Tyr238Cys) | dbSNP ExAC gnomAD v2 |
1 | g.169552729T>G | CA343129421 | F5 | c.1124A>C (p.Tyr375Ser) c.713A>C (p.Tyr238Ser) | |
1 | g.169552729T= | CA1206146976 | F5 | c.1124A= (p.Tyr375=) c.713A= (p.Tyr238=) | |
1 | g.169552730A>C | CA343129426 | F5 | c.1123T>G (p.Tyr375Asp) c.712T>G (p.Tyr238Asp) | |
1 | g.169552730A>G | CA343129428 | F5 | c.1123T>C (p.Tyr375His) c.712T>C (p.Tyr238His) | |
1 | g.169552730A>T | CA343129429 | F5 | c.1123T>A (p.Tyr375Asn) c.712T>A (p.Tyr238Asn) | |
1 | g.169552731T>A | CA343129430 | F5 | c.1122A>T (p.Lys374Asn) c.711A>T (p.Lys237Asn) | |
1 | g.169552731T>C | CA421732583 | F5 | c.1122A>G (p.Lys374=) c.711A>G (p.Lys237=) | |
1 | g.169552731T>G | CA343129431 | F5 | c.1122A>C (p.Lys374Asn) c.711A>C (p.Lys237Asn) | |
1 | g.169552732T>A | CA343129432 | F5 | c.1121A>T (p.Lys374Ile) c.710A>T (p.Lys237Ile) | |
1 | g.169552732T>C | CA343129437 | F5 | c.1121A>G (p.Lys374Arg) c.710A>G (p.Lys237Arg) | |
1 | g.169552732T>G | CA343129456 | F5 | c.1121A>C (p.Lys374Thr) c.710A>C (p.Lys237Thr) | |
1 | g.169552733T>A | CA343129476 | F5 | c.1120A>T (p.Lys374Ter) c.709A>T (p.Lys237Ter) | |
1 | g.169552733T>C | CA343129473 | F5 | c.1120A>G (p.Lys374Glu) c.709A>G (p.Lys237Glu) | |
1 | g.169552733T>G | CA343129464 | F5 | c.1120A>C (p.Lys374Gln) c.709A>C (p.Lys237Gln) | |
1 | g.169552734T>A | CA343129483 | F5 | c.1119A>T (p.Lys373Asn) c.708A>T (p.Lys236Asn) | gnomAD v4 |
1 | g.169552734T>C | CA421732584 | F5 | c.1119A>G (p.Lys373=) c.708A>G (p.Lys236=) | |
1 | g.169552734T>G | CA343129488 | F5 | c.1119A>C (p.Lys373Asn) c.708A>C (p.Lys236Asn) | |
1 | g.169552735C>A | CA343129502 | F5 | c.1119-1G>T (n.1119-1G>T) c.708-1G>T (n.708-1G>T) | |
1 | g.169552735C>G | CA343129505 | F5 | c.1119-1G>C (n.1119-1G>C) c.708-1G>C (n.708-1G>C) | COSMIC |
1 | g.169552735C>T | CA343129508 | F5 | c.1119-1G>A (n.1119-1G>A) c.708-1G>A (n.708-1G>A) | |
1 | g.169552736T>A | CA343129510 | F5 | c.1119-2A>T (n.1119-2A>T) c.708-2A>T (n.708-2A>T) | |
1 | g.169552736T>C | CA343129512 | F5 | c.1119-2A>G (n.1119-2A>G) c.708-2A>G (n.708-2A>G) | |
1 | g.169552736T>G | CA343129513 | F5 | c.1119-2A>C (n.1119-2A>C) c.708-2A>C (n.708-2A>C) | |
1 | g.169552737T>A | CA1234409 | F5 | c.1119-3A>T (n.1119-3A>T) c.708-3A>T (n.708-3A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552737T>C | CA2568912502 | F5 | c.1119-3A>G (n.1119-3A>G) c.708-3A>G (n.708-3A>G) | |
1 | g.169552737T= | CA1206146979 | F5 | c.1119-3A= (n.1119-3A=) c.708-3A= (n.708-3A=) | |
1 | g.169552738A= | CA1206146981 | F5 | c.1119-4T= (n.1119-4T=) c.708-4T= (n.708-4T=) | |
1 | g.169552738A>C | CA527131297 | F5 | c.1119-4T>G (n.1119-4T>G) c.708-4T>G (n.708-4T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552741G>A | CA2499214294 | F5 | c.1119-7C>T (n.1119-7C>T) c.708-7C>T (n.708-7C>T) | |
1 | g.169552742T= | CA1206146983 | F5 | c.1119-8A= (n.1119-8A=) c.708-8A= (n.708-8A=) | |
1 | g.169552742_169552743insA | CA1234410 | F5 | c.1119-9_1119-8insT (n.1119-9_1119-8insT) c.708-9_708-8insT (n.708-9_708-8insT) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552743G>A | CA1234411 | F5 | c.1119-9C>T (n.1119-9C>T) c.708-9C>T (n.708-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552743G= | CA1206146987 | F5 | c.1119-9C= (n.1119-9C=) c.708-9C= (n.708-9C=) | |
1 | g.169552743G>T | CA2739275394 | F5 | c.1119-9C>A (n.1119-9C>A) c.708-9C>A (n.708-9C>A) | ClinVar |
1 | g.169552744A= | CA1206146991 | F5 | c.1119-10T= (n.1119-10T=) c.708-10T= (n.708-10T=) | |
1 | g.169552744A>C | CA2649036150 | F5 | c.1119-10T>G (n.1119-10T>G) c.708-10T>G (n.708-10T>G) | gnomAD v4 |
1 | g.169552744A>T | CA527131298 | F5 | c.1119-10T>A (n.1119-10T>A) c.708-10T>A (n.708-10T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552745A= | CA1206146992 | F5 | c.1119-11T= (n.1119-11T=) c.708-11T= (n.708-11T=) | |
1 | g.169552745A>C | CA527131299 | F5 | c.1119-11T>G (n.1119-11T>G) c.708-11T>G (n.708-11T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552745A>G | CA1206146994 | F5 | c.1119-11T>C (n.1119-11T>C) c.708-11T>C (n.708-11T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.169552746G>A | CA527131300 | F5 | c.1119-12C>T (n.1119-12C>T) c.708-12C>T (n.708-12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552746G>C | CA2573948617 | F5 | c.1119-12C>G (n.1119-12C>G) c.708-12C>G (n.708-12C>G) | gnomAD v4 |
1 | g.169552746G= | CA1206146996 | F5 | c.1119-12C= (n.1119-12C=) c.708-12C= (n.708-12C=) | |
1 | g.169552747T>A | CA527131301 | F5 | c.1119-13A>T (n.1119-13A>T) c.708-13A>T (n.708-13A>T) | gnomAD v2 |
1 | g.169552747T>C | CA2746577913 | F5 | c.1119-13A>G (n.1119-13A>G) c.708-13A>G (n.708-13A>G) | |
1 | g.169552747dup | CA1206146998 | F5 | c.1119-13dup (n.1119-13dup) c.708-13dup (n.708-13dup) | dbSNP gnomAD v4 |
1 | g.169552747_169552748delinsTA | CA1206147000 | F5 | c.1119-14_1119-13delinsTA (n.1119-14_1119-13delinsTA) c.708-14_708-13delinsTA (n.708-14_708-13delinsTA) | |
1 | g.169552748A= | CA1206147004 | F5 | c.1119-14T= (n.1119-14T=) c.708-14T= (n.708-14T=) | |
1 | g.169552748A>T | CA1206147006 | F5 | c.1119-14T>A (n.1119-14T>A) c.708-14T>A (n.708-14T>A) | dbSNP gnomAD v4 |
1 | g.169552756dup | CA1234413 | F5 | c.1119-14dup (n.1119-14dup) c.708-14dup (n.708-14dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552755_169552756dup | CA2649036152 | F5 | c.1119-15_1119-14dup (n.1119-15_1119-14dup) c.708-15_708-14dup (n.708-15_708-14dup) | gnomAD v4 |
1 | g.169552756del | CA1234412 | F5 | c.1119-14del (n.1119-14del) c.708-14del (n.708-14del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552749A= | CA1206147008 | F5 | c.1119-15T= (n.1119-15T=) c.708-15T= (n.708-15T=) | |
1 | g.169552749_169552762delinsAAAAAAAATTAAAC | CA1206147010 | F5 | c.1119-28_1119-15delinsGTTTAATTTTTTTT (n.1119-28_1119-15delinsGTTTAATTTTTTTT) c.708-28_708-15delinsGTTTAATTTTTTTT (n.708-28_708-15delinsGTTTAATTTTTTTT) | |
1 | g.169552749_169552750insCAC | CA527131302 | F5 | c.1119-16_1119-15insGTG (n.1119-16_1119-15insGTG) c.708-16_708-15insGTG (n.708-16_708-15insGTG) | dbSNP gnomAD v2 |
1 | g.169552750A= | CA1206147017 | F5 | c.1119-16T= (n.1119-16T=) c.708-16T= (n.708-16T=) | |
1 | g.169552750A>C | CA1234415 | F5 | c.1119-16T>G (n.1119-16T>G) c.708-16T>G (n.708-16T>G) | dbSNP ExAC |
1 | g.169552750A>G | CA1206147020 | F5 | c.1119-16T>C (n.1119-16T>C) c.708-16T>C (n.708-16T>C) | dbSNP |
1 | g.169552750_169552762del | CA1234414 | F5 | c.1119-28_1119-16del (n.1119-28_1119-16del) c.708-28_708-16del (n.708-28_708-16del) | dbSNP ExAC |
1 | g.169552751A>G | CA2649036153 | F5 | c.1119-17T>C (n.1119-17T>C) c.708-17T>C (n.708-17T>C) | gnomAD v4 |
1 | g.169552752A= | CA1206147022 | F5 | c.1119-18T= (n.1119-18T=) c.708-18T= (n.708-18T=) | |
1 | g.169552752A>C | CA1234416 | F5 | c.1119-18T>G (n.1119-18T>G) c.708-18T>G (n.708-18T>G) | dbSNP ExAC |
1 | g.169552753A>G | CA2649036154 | F5 | c.1119-19T>C (n.1119-19T>C) c.708-19T>C (n.708-19T>C) | gnomAD v4 |
1 | g.169552754A= | CA1146829983 | F5 | c.1119-20T= (n.1119-20T=) c.708-20T= (n.708-20T=) | |
1 | g.169552754A>G | CA1206147025 | F5 | c.1119-20T>C (n.1119-20T>C) c.708-20T>C (n.708-20T>C) | dbSNP |
1 | g.169552754A>T | CA1234417 | F5 | c.1119-20T>A (n.1119-20T>A) c.708-20T>A (n.708-20T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552755A= | CA1206147030 | F5 | c.1119-21T= (n.1119-21T=) c.708-21T= (n.708-21T=) | |
1 | g.169552755A>C | CA1234418 | F5 | c.1119-21T>G (n.1119-21T>G) c.708-21T>G (n.708-21T>G) | dbSNP ExAC |
1 | g.169552755A>T | CA1234419 | F5 | c.1119-21T>A (n.1119-21T>A) c.708-21T>A (n.708-21T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552756A>C | CA2649036155 | F5 | c.1119-22T>G (n.1119-22T>G) c.708-22T>G (n.708-22T>G) | gnomAD v4 |
1 | g.169552757T>A | CA1234420 | F5 | c.1119-23A>T (n.1119-23A>T) c.708-23A>T (n.708-23A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552757T>C | CA2746577914 | F5 | c.1119-23A>G (n.1119-23A>G) c.708-23A>G (n.708-23A>G) | |
1 | g.169552757T= | CA1206147034 | F5 | c.1119-23A= (n.1119-23A=) c.708-23A= (n.708-23A=) | |
1 | g.169552758del | CA2649036156 | F5 | c.1119-23del (n.1119-23del) c.708-23del (n.708-23del) | gnomAD v4 |
1 | g.169552758T>C | CA890928743 | F5 | c.1119-24A>G (n.1119-24A>G) c.708-24A>G (n.708-24A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552758T= | CA1206147036 | F5 | c.1119-24A= (n.1119-24A=) c.708-24A= (n.708-24A=) | |
1 | g.169552760A>G | CA2510648767 | F5 | c.1119-26T>C (n.1119-26T>C) c.708-26T>C (n.708-26T>C) | |
1 | g.169552761A= | CA1206147041 | F5 | c.1119-27T= (n.1119-27T=) c.708-27T= (n.708-27T=) | |
1 | g.169552761A>G | CA527131303 | F5 | c.1119-27T>C (n.1119-27T>C) c.708-27T>C (n.708-27T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552762C>A | CA527131304 | F5 | c.1119-28G>T (n.1119-28G>T) c.708-28G>T (n.708-28G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169552762C= | CA1206147044 | F5 | c.1119-28G= (n.1119-28G=) c.708-28G= (n.708-28G=) | |
1 | g.169552762C>T | CA1008978451 | F5 | c.1119-28G>A (n.1119-28G>A) c.708-28G>A (n.708-28G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552763C>T | CA2649036157 | F5 | c.1119-29G>A (n.1119-29G>A) c.708-29G>A (n.708-29G>A) | gnomAD v4 |
1 | g.169552764A= | CA1144028518 | F5 | c.1119-30T= (n.1119-30T=) c.708-30T= (n.708-30T=) | |
1 | g.169552764A>G | CA2649036158 | F5 | c.1119-30T>C (n.1119-30T>C) c.708-30T>C (n.708-30T>C) | gnomAD v4 |
1 | g.169552764A>T | CA1234422 | F5 | c.1119-30T>A (n.1119-30T>A) c.708-30T>A (n.708-30T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552764_169552770delinsACTTTCT | CA1206147048 | F5 | c.1119-36_1119-30delinsAGAAAGT (n.1119-36_1119-30delinsAGAAAGT) c.708-36_708-30delinsAGAAAGT (n.708-36_708-30delinsAGAAAGT) | |
1 | g.169552765C>A | CA1206147050 | F5 | c.1119-31G>T (n.1119-31G>T) c.708-31G>T (n.708-31G>T) | dbSNP |
1 | g.169552765C= | CA1206147051 | F5 | c.1119-31G= (n.1119-31G=) c.708-31G= (n.708-31G=) | |
1 | g.169552765C>G | CA2649036159 | F5 | c.1119-31G>C (n.1119-31G>C) c.708-31G>C (n.708-31G>C) | gnomAD v4 |
1 | g.169552765C>T | CA1206147049 | F5 | c.1119-31G>A (n.1119-31G>A) c.708-31G>A (n.708-31G>A) | dbSNP gnomAD v4 |
1 | g.169552766_169552771del | CA1234421 | F5 | c.1119-36_1119-31del (n.1119-36_1119-31del) c.708-36_708-31del (n.708-36_708-31del) | dbSNP ExAC |
1 | g.169552766_169552780delinsTTTCTCAAATAGAGA | CA1206147053 | F5 | c.1119-46_1119-32delinsTCTCTATTTGAGAAA (n.1119-46_1119-32delinsTCTCTATTTGAGAAA) c.708-46_708-32delinsTCTCTATTTGAGAAA (n.708-46_708-32delinsTCTCTATTTGAGAAA) | |
1 | g.169552768_169552781del | CA527131305 | F5 | c.1119-46_1119-33del (n.1119-46_1119-33del) c.708-46_708-33del (n.708-46_708-33del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552769C>A | CA2573948717 | F5 | c.1119-35G>T (n.1119-35G>T) c.708-35G>T (n.708-35G>T) | gnomAD v4 |
1 | g.169552769C= | CA1206147057 | F5 | c.1119-35G= (n.1119-35G=) c.708-35G= (n.708-35G=) | |
1 | g.169552769C>G | CA32388799 | F5 | c.1119-35G>C (n.1119-35G>C) c.708-35G>C (n.708-35G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169552769C>T | CA2649036160 | F5 | c.1119-35G>A (n.1119-35G>A) c.708-35G>A (n.708-35G>A) | gnomAD v4 |
1 | g.169552770T>A | CA2573948726 | F5 | c.1119-36A>T (n.1119-36A>T) c.708-36A>T (n.708-36A>T) | |
1 | g.169552772A>C | CA2649036161 | F5 | c.1119-38T>G (n.1119-38T>G) c.708-38T>G (n.708-38T>G) | gnomAD v4 |
1 | g.169552774A= | CA1206147061 | F5 | c.1119-40T= (n.1119-40T=) c.708-40T= (n.708-40T=) | |
1 | g.169552774A>G | CA32388811 | F5 | c.1119-40T>C (n.1119-40T>C) c.708-40T>C (n.708-40T>C) | dbSNP gnomAD v4 |
1 | g.169552775T>C | CA1234423 | F5 | c.1119-41A>G (n.1119-41A>G) c.708-41A>G (n.708-41A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169552775T= | CA1206147063 | F5 | c.1119-41A= (n.1119-41A=) c.708-41A= (n.708-41A=) | |
1 | g.169552776A>G | CA2573948731 | F5 | c.1119-42T>C (n.1119-42T>C) c.708-42T>C (n.708-42T>C) | gnomAD v4 |
1 | g.169552777G>A | CA1008978456 | F5 | c.1119-43C>T (n.1119-43C>T) c.708-43C>T (n.708-43C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169552777G>C | CA1234424 | F5 | c.1119-43C>G (n.1119-43C>G) c.708-43C>G (n.708-43C>G) | dbSNP ExAC gnomAD v4 |
1 | g.169552777G= | CA1206147066 | F5 | c.1119-43C= (n.1119-43C=) c.708-43C= (n.708-43C=) | |
1 | g.169552777G>T | CA2649036162 | F5 | c.1119-43C>A (n.1119-43C>A) c.708-43C>A (n.708-43C>A) | gnomAD v4 |