Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154966475C>A | CA414916047 | F8 | c.1222G>T (p.Glu408Ter) c.*1098G>T (n.*1098G>T) n.42G>T c.1117G>T (p.Glu373Ter) | |
X | g.154966475C>G | CA414916056 | F8 | c.1222G>C (p.Glu408Gln) c.*1098G>C (n.*1098G>C) n.42G>C c.1117G>C (p.Glu373Gln) | |
X | g.154966475C>T | CA414916053 | F8 | c.1222G>A (p.Glu408Lys) c.*1098G>A (n.*1098G>A) n.42G>A c.1117G>A (p.Glu373Lys) | |
X | g.154966476A>C | CA519364276 | F8 | c.1221T>G (p.Ala407=) c.*1097T>G (n.*1097T>G) n.41T>G c.1116T>G (p.Ala372=) | |
X | g.154966476A>G | CA519364279 | F8 | c.1221T>C (p.Ala407=) c.*1097T>C (n.*1097T>C) n.41T>C c.1116T>C (p.Ala372=) | |
X | g.154966476A>T | CA519364282 | F8 | c.1221T>A (p.Ala407=) c.*1097T>A (n.*1097T>A) n.41T>A c.1116T>A (p.Ala372=) | |
X | g.154966477del | CA2695237352 | F8 | c.1220del (p.Ala407ValfsTer11) c.*1096del (n.*1096del) n.40del c.1115del (p.Ala372ValfsTer11) | |
X | g.154966477G>A | CA414916060 | F8 | c.1220C>T (p.Ala407Val) c.*1096C>T (n.*1096C>T) n.40C>T c.1115C>T (p.Ala372Val) | |
X | g.154966477G>C | CA414916063 | F8 | c.1220C>G (p.Ala407Gly) c.*1096C>G (n.*1096C>G) n.40C>G c.1115C>G (p.Ala372Gly) | |
X | g.154966477G>T | CA414916064 | F8 | c.1220C>A (p.Ala407Asp) c.*1096C>A (n.*1096C>A) n.40C>A c.1115C>A (p.Ala372Asp) | |
X | g.154966478C>A | CA414916069 | F8 | c.1219G>T (p.Ala407Ser) c.*1095G>T (n.*1095G>T) n.39G>T c.1114G>T (p.Ala372Ser) | |
X | g.154966478C>G | CA414916071 | F8 | c.1219G>C (p.Ala407Pro) c.*1095G>C (n.*1095G>C) n.39G>C c.1114G>C (p.Ala372Pro) | |
X | g.154966478C>T | CA414916073 | F8 | c.1219G>A (p.Ala407Thr) c.*1095G>A (n.*1095G>A) n.39G>A c.1114G>A (p.Ala372Thr) | |
X | g.154966479A= | CA2466848105 | F8 | c.1218T= (p.Ala406=) c.*1094T= (n.*1094T=) n.38T= c.1113T= (p.Ala371=) | |
X | g.154966479A>C | CA519364819 | F8 | c.1218T>G (p.Ala406=) c.*1094T>G (n.*1094T>G) n.38T>G c.1113T>G (p.Ala371=) | |
X | g.154966479A>G | CA519364825 | F8 | c.1218T>C (p.Ala406=) c.*1094T>C (n.*1094T>C) n.38T>C c.1113T>C (p.Ala371=) | |
X | g.154966479A>T | CA519364821 | F8 | c.1218T>A (p.Ala406=) c.*1094T>A (n.*1094T>A) n.38T>A c.1113T>A (p.Ala371=) | dbSNP |
X | g.154966480G>A | CA414916076 | F8 | c.1217C>T (p.Ala406Val) c.*1093C>T (n.*1093C>T) n.37C>T c.1112C>T (p.Ala371Val) | |
X | g.154966480G>C | CA414916081 | F8 | c.1217C>G (p.Ala406Gly) c.*1093C>G (n.*1093C>G) n.37C>G c.1112C>G (p.Ala371Gly) | COSMIC COSMIC |
X | g.154966480G>T | CA414916084 | F8 | c.1217C>A (p.Ala406Asp) c.*1093C>A (n.*1093C>A) n.37C>A c.1112C>A (p.Ala371Asp) | |
X | g.154966481C>A | CA414916089 | F8 | c.1216G>T (p.Ala406Ser) c.*1092G>T (n.*1092G>T) n.36G>T c.1111G>T (p.Ala371Ser) | COSMIC COSMIC |
X | g.154966481C>G | CA414916087 | F8 | c.1216G>C (p.Ala406Pro) c.*1092G>C (n.*1092G>C) n.36G>C c.1111G>C (p.Ala371Pro) | |
X | g.154966481C>T | CA414916088 | F8 | c.1216G>A (p.Ala406Thr) c.*1092G>A (n.*1092G>A) n.36G>A c.1111G>A (p.Ala371Thr) | |
X | g.154966482A>C | CA414916090 | F8 | c.1215T>G (p.Ile405Met) c.*1091T>G (n.*1091T>G) n.35T>G c.1110T>G (p.Ile370Met) | |
X | g.154966482A>G | CA519364831 | F8 | c.1215T>C (p.Ile405=) c.*1091T>C (n.*1091T>C) n.35T>C c.1110T>C (p.Ile370=) | |
X | g.154966482A>T | CA519364835 | F8 | c.1215T>A (p.Ile405=) c.*1091T>A (n.*1091T>A) n.35T>A c.1110T>A (p.Ile370=) | |
X | g.154966483A= | CA2466848106 | F8 | c.1214T= (p.Ile405=) c.*1090T= (n.*1090T=) n.34T= c.1109T= (p.Ile370=) | |
X | g.154966483A>C | CA255098 | F8 | c.1214T>G (p.Ile405Ser) c.*1090T>G (n.*1090T>G) n.34T>G c.1109T>G (p.Ile370Ser) | ClinVar dbSNP |
X | g.154966483A>G | CA414916092 | F8 | c.1214T>C (p.Ile405Thr) c.*1090T>C (n.*1090T>C) n.34T>C c.1109T>C (p.Ile370Thr) | dbSNP |
X | g.154966483A>T | CA414916094 | F8 | c.1214T>A (p.Ile405Asn) c.*1090T>A (n.*1090T>A) n.34T>A c.1109T>A (p.Ile370Asn) | |
X | g.154966484T>A | CA414916097 | F8 | c.1213A>T (p.Ile405Phe) c.*1089A>T (n.*1089A>T) n.33A>T c.1108A>T (p.Ile370Phe) | |
X | g.154966484T>C | CA414916101 | F8 | c.1213A>G (p.Ile405Val) c.*1089A>G (n.*1089A>G) n.33A>G c.1108A>G (p.Ile370Val) | |
X | g.154966484T>G | CA414916103 | F8 | c.1213A>C (p.Ile405Leu) c.*1089A>C (n.*1089A>C) n.33A>C c.1108A>C (p.Ile370Leu) | |
X | g.154966485_154966486del | CA2695237355 | F8 | c.1212_1213del (p.Ile405CysfsTer3) c.*1088_*1089del (n.*1088_*1089del) n.32_33del c.1107_1108del (p.Ile370CysfsTer3) | |
X | g.154966485G>A | CA519364848 | F8 | c.1212C>T (p.Tyr404=) c.*1088C>T (n.*1088C>T) n.32C>T c.1107C>T (p.Tyr369=) | |
X | g.154966485G>C | CA414916105 | F8 | c.1212C>G (p.Tyr404Ter) c.*1088C>G (n.*1088C>G) n.32C>G c.1107C>G (p.Tyr369Ter) | |
X | g.154966485G>T | CA414916106 | F8 | c.1212C>A (p.Tyr404Ter) c.*1088C>A (n.*1088C>A) n.32C>A c.1107C>A (p.Tyr369Ter) | |
X | g.154966486T>A | CA414916113 | F8 | c.1211A>T (p.Tyr404Phe) c.*1087A>T (n.*1087A>T) n.31A>T c.1106A>T (p.Tyr369Phe) | |
X | g.154966486T>C | CA414916119 | F8 | c.1211A>G (p.Tyr404Cys) c.*1087A>G (n.*1087A>G) n.31A>G c.1106A>G (p.Tyr369Cys) | |
X | g.154966486T>G | CA414916110 | F8 | c.1211A>C (p.Tyr404Ser) c.*1087A>C (n.*1087A>C) n.31A>C c.1106A>C (p.Tyr369Ser) | |
X | g.154966487A>C | CA414916120 | F8 | c.1210T>G (p.Tyr404Asp) c.*1086T>G (n.*1086T>G) n.30T>G c.1105T>G (p.Tyr369Asp) | |
X | g.154966487A>G | CA414916121 | F8 | c.1210T>C (p.Tyr404His) c.*1086T>C (n.*1086T>C) n.30T>C c.1105T>C (p.Tyr369His) | |
X | g.154966487A>T | CA414916122 | F8 | c.1210T>A (p.Tyr404Asn) c.*1086T>A (n.*1086T>A) n.30T>A c.1105T>A (p.Tyr369Asn) | |
X | g.154966488A= | CA2466848107 | F8 | c.1209T= (p.His403=) c.*1085T= (n.*1085T=) n.29T= c.1104T= (p.His368=) | |
X | g.154966488A>C | CA414916124 | F8 | c.1209T>G (p.His403Gln) c.*1085T>G (n.*1085T>G) n.29T>G c.1104T>G (p.His368Gln) | |
X | g.154966488A>G | CA519364871 | F8 | c.1209T>C (p.His403=) c.*1085T>C (n.*1085T>C) n.29T>C c.1104T>C (p.His368=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154966488A>T | CA414916127 | F8 | c.1209T>A (p.His403Gln) c.*1085T>A (n.*1085T>A) n.29T>A c.1104T>A (p.His368Gln) | |
X | g.154966489T>A | CA414916129 | F8 | c.1208A>T (p.His403Leu) c.*1084A>T (n.*1084A>T) n.28A>T c.1103A>T (p.His368Leu) | |
X | g.154966489T>C | CA414916132 | F8 | c.1208A>G (p.His403Arg) c.*1084A>G (n.*1084A>G) n.28A>G c.1103A>G (p.His368Arg) | dbSNP gnomAD v4 |
X | g.154966489T>G | CA414916134 | F8 | c.1208A>C (p.His403Pro) c.*1084A>C (n.*1084A>C) n.28A>C c.1103A>C (p.His368Pro) | |
X | g.154966489T= | CA2466848108 | F8 | c.1208A= (p.His403=) c.*1084A= (n.*1084A=) n.28A= c.1103A= (p.His368=) | |
X | g.154966490G>A | CA414916137 | F8 | c.1207C>T (p.His403Tyr) c.*1083C>T (n.*1083C>T) n.27C>T c.1102C>T (p.His368Tyr) | |
X | g.154966490G>C | CA414916140 | F8 | c.1207C>G (p.His403Asp) c.*1083C>G (n.*1083C>G) n.27C>G c.1102C>G (p.His368Asp) | |
X | g.154966490G>T | CA414916142 | F8 | c.1207C>A (p.His403Asn) c.*1083C>A (n.*1083C>A) n.27C>A c.1102C>A (p.His368Asn) | |
X | g.154966491T>A | CA519364889 | F8 | c.1206A>T (p.Val402=) c.*1082A>T (n.*1082A>T) n.26A>T c.1101A>T (p.Val367=) | |
X | g.154966491T>C | CA519364890 | F8 | c.1206A>G (p.Val402=) c.*1082A>G (n.*1082A>G) n.26A>G c.1101A>G (p.Val367=) | |
X | g.154966491T>G | CA519364893 | F8 | c.1206A>C (p.Val402=) c.*1082A>C (n.*1082A>C) n.26A>C c.1101A>C (p.Val367=) | |
X | g.154966492A>C | CA414916147 | F8 | c.1205T>G (p.Val402Gly) c.*1081T>G (n.*1081T>G) n.25T>G c.1100T>G (p.Val367Gly) | |
X | g.154966492A>G | CA414916145 | F8 | c.1205T>C (p.Val402Ala) c.*1081T>C (n.*1081T>C) n.25T>C c.1100T>C (p.Val367Ala) | |
X | g.154966492A>T | CA414916146 | F8 | c.1205T>A (p.Val402Glu) c.*1081T>A (n.*1081T>A) n.25T>A c.1100T>A (p.Val367Glu) | |
X | g.154966493C>A | CA10568493 | F8 | c.1204G>T (p.Val402Leu) c.*1080G>T (n.*1080G>T) n.24G>T c.1099G>T (p.Val367Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154966493C= | CA2466848109 | F8 | c.1204G= (p.Val402=) c.*1080G= (n.*1080G=) n.24G= c.1099G= (p.Val367=) | |
X | g.154966493C>G | CA414916150 | F8 | c.1204G>C (p.Val402Leu) c.*1080G>C (n.*1080G>C) n.24G>C c.1099G>C (p.Val367Leu) | |
X | g.154966493C>T | CA10568494 | F8 | c.1204G>A (p.Val402Ile) c.*1080G>A (n.*1080G>A) n.24G>A c.1099G>A (p.Val367Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966494C>A | CA414916154 | F8 | c.1203G>T (p.Trp401Cys) c.*1079G>T (n.*1079G>T) n.23G>T c.1098G>T (p.Trp366Cys) | |
X | g.154966494C>G | CA414916157 | F8 | c.1203G>C (p.Trp401Cys) c.*1079G>C (n.*1079G>C) n.23G>C c.1098G>C (p.Trp366Cys) | |
X | g.154966494C>T | CA414916158 | F8 | c.1203G>A (p.Trp401Ter) c.*1079G>A (n.*1079G>A) n.23G>A c.1098G>A (p.Trp366Ter) | ClinVar dbSNP |
X | g.154966495C>A | CA414916165 | F8 | c.1202G>T (p.Trp401Leu) c.*1078G>T (n.*1078G>T) n.22G>T c.1097G>T (p.Trp366Leu) | |
X | g.154966495C= | CA2466848110 | F8 | c.1202G= (p.Trp401=) c.*1078G= (n.*1078G=) n.22G= c.1097G= (p.Trp366=) | |
X | g.154966495C>G | CA414916168 | F8 | c.1202G>C (p.Trp401Ser) c.*1078G>C (n.*1078G>C) n.22G>C c.1097G>C (p.Trp366Ser) | |
X | g.154966495C>T | CA414916170 | F8 | c.1202G>A (p.Trp401Ter) c.*1078G>A (n.*1078G>A) n.22G>A c.1097G>A (p.Trp366Ter) | ClinVar dbSNP |
X | g.154966496A= | CA2466848111 | F8 | c.1201T= (p.Trp401=) c.*1077T= (n.*1077T=) n.21T= c.1096T= (p.Trp366=) | |
X | g.154966496A>C | CA414916179 | F8 | c.1201T>G (p.Trp401Gly) c.*1077T>G (n.*1077T>G) n.21T>G c.1096T>G (p.Trp366Gly) | |
X | g.154966496A>G | CA414916180 | F8 | c.1201T>C (p.Trp401Arg) c.*1077T>C (n.*1077T>C) n.21T>C c.1096T>C (p.Trp366Arg) | |
X | g.154966496A>T | CA414916183 | F8 | c.1201T>A (p.Trp401Arg) c.*1077T>A (n.*1077T>A) n.21T>A c.1096T>A (p.Trp366Arg) | dbSNP |
X | g.154966496_154966497del | CA2695237356 | F8 | c.1200_1201del (p.Trp401GlyfsTer7) c.*1076_*1077del (n.*1076_*1077del) n.20_21del c.1095_1096del (p.Trp366GlyfsTer7) | |
X | g.154966497A>C | CA519364928 | F8 | c.1200T>G (p.Thr400=) c.*1076T>G (n.*1076T>G) n.20T>G c.1095T>G (p.Thr365=) | |
X | g.154966497A>G | CA519364930 | F8 | c.1200T>C (p.Thr400=) c.*1076T>C (n.*1076T>C) n.20T>C c.1095T>C (p.Thr365=) | |
X | g.154966497A>T | CA519364931 | F8 | c.1200T>A (p.Thr400=) c.*1076T>A (n.*1076T>A) n.20T>A c.1095T>A (p.Thr365=) | |
X | g.154966498del | CA2695237357 | F8 | c.1199del (p.Thr400IlefsTer18) c.*1075del (n.*1075del) n.19del c.1094del (p.Thr365IlefsTer18) | |
X | g.154966498G>A | CA414916188 | F8 | c.1199C>T (p.Thr400Ile) c.*1075C>T (n.*1075C>T) n.19C>T c.1094C>T (p.Thr365Ile) | |
X | g.154966498G>C | CA414916190 | F8 | c.1199C>G (p.Thr400Ser) c.*1075C>G (n.*1075C>G) n.19C>G c.1094C>G (p.Thr365Ser) | |
X | g.154966498G>T | CA414916185 | F8 | c.1199C>A (p.Thr400Asn) c.*1075C>A (n.*1075C>A) n.19C>A c.1094C>A (p.Thr365Asn) | |
X | g.154966498_154966500delinsGTT | CA2466848112 | F8 | c.1197_1199delinsAAC (p.Lys399=) c.*1073_*1075delinsAAC (n.*1073_*1075delinsAAC) n.17_19delinsAAC c.1092_1094delinsAAC (p.Lys364=) | |
X | g.154966499T>A | CA414916196 | F8 | c.1198A>T (p.Thr400Ser) c.*1074A>T (n.*1074A>T) n.18A>T c.1093A>T (p.Thr365Ser) | |
X | g.154966499T>C | CA414916193 | F8 | c.1198A>G (p.Thr400Ala) c.*1074A>G (n.*1074A>G) n.18A>G c.1093A>G (p.Thr365Ala) | |
X | g.154966499T>G | CA414916200 | F8 | c.1198A>C (p.Thr400Pro) c.*1074A>C (n.*1074A>C) n.18A>C c.1093A>C (p.Thr365Pro) | |
X | g.154966502del | CA645605366 | F8 | c.1198del (p.Thr400LeufsTer18) c.*1074del (n.*1074del) n.18del c.1093del (p.Thr365LeufsTer18) | COSMIC COSMIC |
X | g.154966501_154966502del | CA255097 | F8 | c.1197_1198del (p.Lys399AsnfsTer9) c.*1073_*1074del (n.*1073_*1074del) n.17_18del c.1092_1093del (p.Lys364AsnfsTer9) | ClinVar dbSNP |
X | g.154966500T>A | CA414916202 | F8 | c.1197A>T (p.Lys399Asn) c.*1073A>T (n.*1073A>T) n.17A>T c.1092A>T (p.Lys364Asn) | |
X | g.154966500T>C | CA519364946 | F8 | c.1197A>G (p.Lys399=) c.*1073A>G (n.*1073A>G) n.17A>G c.1092A>G (p.Lys364=) | |
X | g.154966500T>G | CA414916205 | F8 | c.1197A>C (p.Lys399Asn) c.*1073A>C (n.*1073A>C) n.17A>C c.1092A>C (p.Lys364Asn) | |
X | g.154966501T>A | CA414916207 | F8 | c.1196A>T (p.Lys399Ile) c.*1072A>T (n.*1072A>T) n.16A>T c.1091A>T (p.Lys364Ile) | |
X | g.154966501T>C | CA414916210 | F8 | c.1196A>G (p.Lys399Arg) c.*1072A>G (n.*1072A>G) n.16A>G c.1091A>G (p.Lys364Arg) | |
X | g.154966501T>G | CA414916215 | F8 | c.1196A>C (p.Lys399Thr) c.*1072A>C (n.*1072A>C) n.16A>C c.1091A>C (p.Lys364Thr) | |
X | g.154966502T>A | CA414916219 | F8 | c.1195A>T (p.Lys399Ter) c.*1071A>T (n.*1071A>T) n.15A>T c.1090A>T (p.Lys364Ter) | |
X | g.154966502T>C | CA414916221 | F8 | c.1195A>G (p.Lys399Glu) c.*1071A>G (n.*1071A>G) n.15A>G c.1090A>G (p.Lys364Glu) | dbSNP |
X | g.154966502T>G | CA414916223 | F8 | c.1195A>C (p.Lys399Gln) c.*1071A>C (n.*1071A>C) n.15A>C c.1090A>C (p.Lys364Gln) | |
X | g.154966502T= | CA2466848113 | F8 | c.1195A= (p.Lys399=) c.*1071A= (n.*1071A=) n.15A= c.1090A= (p.Lys364=) | |
X | g.154966503A>C | CA519364980 | F8 | c.1194T>G (p.Pro398=) c.*1070T>G (n.*1070T>G) n.14T>G c.1089T>G (p.Pro363=) | |
X | g.154966503A>G | CA519364979 | F8 | c.1194T>C (p.Pro398=) c.*1070T>C (n.*1070T>C) n.14T>C c.1089T>C (p.Pro363=) | |
X | g.154966503A>T | CA519364976 | F8 | c.1194T>A (p.Pro398=) c.*1070T>A (n.*1070T>A) n.14T>A c.1089T>A (p.Pro363=) | |
X | g.154966504G>A | CA414916225 | F8 | c.1193C>T (p.Pro398Leu) c.*1069C>T (n.*1069C>T) n.13C>T c.1088C>T (p.Pro363Leu) | |
X | g.154966504G>C | CA414916227 | F8 | c.1193C>G (p.Pro398Arg) c.*1069C>G (n.*1069C>G) n.13C>G c.1088C>G (p.Pro363Arg) | |
X | g.154966504G>T | CA414916232 | F8 | c.1193C>A (p.Pro398His) c.*1069C>A (n.*1069C>A) n.13C>A c.1088C>A (p.Pro363His) | |
X | g.154966505G>A | CA414916235 | F8 | c.1192C>T (p.Pro398Ser) c.*1068C>T (n.*1068C>T) n.12C>T c.1087C>T (p.Pro363Ser) | |
X | g.154966505G>C | CA414916242 | F8 | c.1192C>G (p.Pro398Ala) c.*1068C>G (n.*1068C>G) n.12C>G c.1087C>G (p.Pro363Ala) | |
X | g.154966505G>T | CA414916238 | F8 | c.1192C>A (p.Pro398Thr) c.*1068C>A (n.*1068C>A) n.12C>A c.1087C>A (p.Pro363Thr) | |
X | g.154966506A>C | CA414916244 | F8 | c.1191T>G (p.His397Gln) c.*1067T>G (n.*1067T>G) n.11T>G c.1086T>G (p.His362Gln) | |
X | g.154966506A>G | CA519364987 | F8 | c.1191T>C (p.His397=) c.*1067T>C (n.*1067T>C) n.11T>C c.1086T>C (p.His362=) | |
X | g.154966506A>T | CA414916246 | F8 | c.1191T>A (p.His397Gln) c.*1067T>A (n.*1067T>A) n.11T>A c.1086T>A (p.His362Gln) | |
X | g.154966507T>A | CA414916250 | F8 | c.1190A>T (p.His397Leu) c.*1066A>T (n.*1066A>T) n.10A>T c.1085A>T (p.His362Leu) | |
X | g.154966507T>C | CA414916253 | F8 | c.1190A>G (p.His397Arg) c.*1066A>G (n.*1066A>G) n.10A>G c.1085A>G (p.His362Arg) | |
X | g.154966507T>G | CA414916255 | F8 | c.1190A>C (p.His397Pro) c.*1066A>C (n.*1066A>C) n.10A>C c.1085A>C (p.His362Pro) | |
X | g.154966508G>A | CA414916258 | F8 | c.1189C>T (p.His397Tyr) c.*1065C>T (n.*1065C>T) n.9C>T c.1084C>T (p.His362Tyr) | |
X | g.154966508G>C | CA414916261 | F8 | c.1189C>G (p.His397Asp) c.*1065C>G (n.*1065C>G) n.9C>G c.1084C>G (p.His362Asp) | |
X | g.154966508G>T | CA414916264 | F8 | c.1189C>A (p.His397Asn) c.*1065C>A (n.*1065C>A) n.9C>A c.1084C>A (p.His362Asn) | |
X | g.154966508dup | CA2695237358 | F8 | c.1189dup (p.His397ProfsTer3) c.*1065dup (n.*1065dup) n.9dup c.1084dup (p.His362ProfsTer3) | |
X | g.154966509C>A | CA414916270 | F8 | c.1188G>T (p.Lys396Asn) c.*1064G>T (n.*1064G>T) n.8G>T c.1083G>T (p.Lys361Asn) | |
X | g.154966509C= | CA2466848114 | F8 | c.1188G= (p.Lys396=) c.*1064G= (n.*1064G=) n.8G= c.1083G= (p.Lys361=) | |
X | g.154966509C>G | CA414916267 | F8 | c.1188G>C (p.Lys396Asn) c.*1064G>C (n.*1064G>C) n.8G>C c.1083G>C (p.Lys361Asn) | |
X | g.154966509C>T | CA519365012 | F8 | c.1188G>A (p.Lys396=) c.*1064G>A (n.*1064G>A) n.8G>A c.1083G>A (p.Lys361=) | dbSNP gnomAD v2 |
X | g.154966510T>A | CA414916275 | F8 | c.1187A>T (p.Lys396Met) c.*1063A>T (n.*1063A>T) n.7A>T c.1082A>T (p.Lys361Met) | |
X | g.154966510T>C | CA414916276 | F8 | c.1187A>G (p.Lys396Arg) c.*1063A>G (n.*1063A>G) n.7A>G c.1082A>G (p.Lys361Arg) | |
X | g.154966510T>G | CA414916278 | F8 | c.1187A>C (p.Lys396Thr) c.*1063A>C (n.*1063A>C) n.7A>C c.1082A>C (p.Lys361Thr) | |
X | g.154966511T>A | CA414916281 | F8 | c.1186A>T (p.Lys396Ter) c.*1062A>T (n.*1062A>T) n.6A>T c.1081A>T (p.Lys361Ter) | |
X | g.154966511T>C | CA414916284 | F8 | c.1186A>G (p.Lys396Glu) c.*1062A>G (n.*1062A>G) n.6A>G c.1081A>G (p.Lys361Glu) | |
X | g.154966511T>G | CA414916287 | F8 | c.1186A>C (p.Lys396Gln) c.*1062A>C (n.*1062A>C) n.6A>C c.1081A>C (p.Lys361Gln) | |
X | g.154966512C>A | CA414916290 | F8 | c.1185G>T (p.Lys395Asn) c.*1061G>T (n.*1061G>T) n.5G>T c.1080G>T (p.Lys360Asn) | gnomAD v4 |
X | g.154966512C>G | CA414916292 | F8 | c.1185G>C (p.Lys395Asn) c.*1061G>C (n.*1061G>C) n.5G>C c.1080G>C (p.Lys360Asn) | |
X | g.154966512C>T | CA519365027 | F8 | c.1185G>A (p.Lys395=) c.*1061G>A (n.*1061G>A) n.5G>A c.1080G>A (p.Lys360=) | |
X | g.154966513T>A | CA414916300 | F8 | c.1184A>T (p.Lys395Met) c.*1060A>T (n.*1060A>T) n.4A>T c.1079A>T (p.Lys360Met) | |
X | g.154966513T>C | CA414916303 | F8 | c.1184A>G (p.Lys395Arg) c.*1060A>G (n.*1060A>G) n.4A>G c.1079A>G (p.Lys360Arg) | |
X | g.154966513T>G | CA414916306 | F8 | c.1184A>C (p.Lys395Thr) c.*1060A>C (n.*1060A>C) n.4A>C c.1079A>C (p.Lys360Thr) | |
X | g.154966514dup | CA2695237360 | F8 | c.1184dup (p.Lys396GlufsTer4) c.*1060dup (n.*1060dup) n.4dup c.1079dup (p.Lys361GlufsTer4) | |
X | g.154966514T>A | CA414916317 | F8 | c.1183A>T (p.Lys395Ter) c.*1059A>T (n.*1059A>T) n.3A>T c.1078A>T (p.Lys360Ter) | |
X | g.154966514T>C | CA414916315 | F8 | c.1183A>G (p.Lys395Glu) c.*1059A>G (n.*1059A>G) n.3A>G c.1078A>G (p.Lys360Glu) | |
X | g.154966514T>G | CA414916310 | F8 | c.1183A>C (p.Lys395Gln) c.*1059A>C (n.*1059A>C) n.3A>C c.1078A>C (p.Lys360Gln) | |
X | g.154966515G>A | CA519365047 | F8 | c.1182C>T (p.Ala394=) c.*1058C>T (n.*1058C>T) n.2C>T c.1077C>T (p.Ala359=) | COSMIC COSMIC |
X | g.154966515G>C | CA519365048 | F8 | c.1182C>G (p.Ala394=) c.*1058C>G (n.*1058C>G) n.2C>G c.1077C>G (p.Ala359=) | |
X | g.154966515G>T | CA519365049 | F8 | c.1182C>A (p.Ala394=) c.*1058C>A (n.*1058C>A) n.2C>A c.1077C>A (p.Ala359=) | |
X | g.154966516G>A | CA414916319 | F8 | c.1181C>T (p.Ala394Val) c.*1057C>T (n.*1057C>T) n.1C>T c.1076C>T (p.Ala359Val) | |
X | g.154966516G>C | CA414916322 | F8 | c.1181C>G (p.Ala394Gly) c.*1057C>G (n.*1057C>G) n.1C>G c.1076C>G (p.Ala359Gly) | gnomAD v4 |
X | g.154966516G>T | CA414916324 | F8 | c.1181C>A (p.Ala394Asp) c.*1057C>A (n.*1057C>A) n.1C>A c.1076C>A (p.Ala359Asp) | ClinVar COSMIC COSMIC |
X | g.154966517del | CA2580101790 | F8 | c.1180del (p.Ala394ProfsTer24) c.*1056del (n.*1056del) c.1075del (p.Ala359ProfsTer24) | ClinVar |
X | g.154966517C>A | CA414916327 | F8 | c.1180G>T (p.Ala394Ser) c.*1056G>T (n.*1056G>T) c.1075G>T (p.Ala359Ser) | |
X | g.154966517C>G | CA414916329 | F8 | c.1180G>C (p.Ala394Pro) c.*1056G>C (n.*1056G>C) c.1075G>C (p.Ala359Pro) | |
X | g.154966517C>T | CA414916332 | F8 | c.1180G>A (p.Ala394Thr) c.*1056G>A (n.*1056G>A) c.1075G>A (p.Ala359Thr) | |
X | g.154966518A>C | CA519365055 | F8 | c.1179T>G (p.Val393=) c.*1055T>G (n.*1055T>G) c.1074T>G (p.Val358=) | |
X | g.154966518A>G | CA519365057 | F8 | c.1179T>C (p.Val393=) c.*1055T>C (n.*1055T>C) c.1074T>C (p.Val358=) | |
X | g.154966518A>T | CA519365058 | F8 | c.1179T>A (p.Val393=) c.*1055T>A (n.*1055T>A) c.1074T>A (p.Val358=) | |
X | g.154966519A>C | CA414916336 | F8 | c.1178T>G (p.Val393Gly) c.*1054T>G (n.*1054T>G) c.1073T>G (p.Val358Gly) | |
X | g.154966519A>G | CA414916338 | F8 | c.1178T>C (p.Val393Ala) c.*1054T>C (n.*1054T>C) c.1073T>C (p.Val358Ala) | |
X | g.154966519A>T | CA414916341 | F8 | c.1178T>A (p.Val393Asp) c.*1054T>A (n.*1054T>A) c.1073T>A (p.Val358Asp) | |
X | g.154966520C>A | CA414916343 | F8 | c.1177G>T (p.Val393Phe) c.*1053G>T (n.*1053G>T) c.1072G>T (p.Val358Phe) | gnomAD v4 |
X | g.154966520C>G | CA414916344 | F8 | c.1177G>C (p.Val393Leu) c.*1053G>C (n.*1053G>C) c.1072G>C (p.Val358Leu) | |
X | g.154966520C>T | CA414916347 | F8 | c.1177G>A (p.Val393Ile) c.*1053G>A (n.*1053G>A) c.1072G>A (p.Val358Ile) | |
X | g.154966521T>A | CA519365067 | F8 | c.1176A>T (p.Ser392=) c.*1052A>T (n.*1052A>T) c.1071A>T (p.Ser357=) | |
X | g.154966521T>C | CA519365068 | F8 | c.1176A>G (p.Ser392=) c.*1052A>G (n.*1052A>G) c.1071A>G (p.Ser357=) | |
X | g.154966521T>G | CA519365069 | F8 | c.1176A>C (p.Ser392=) c.*1052A>C (n.*1052A>C) c.1071A>C (p.Ser357=) | |
X | g.154966522G>A | CA255095 | F8 | c.1175C>T (p.Ser392Leu) c.*1051C>T (n.*1051C>T) c.1070C>T (p.Ser357Leu) | ClinVar dbSNP |
X | g.154966522G>C | CA414916359 | F8 | c.1175C>G (p.Ser392Ter) c.*1051C>G (n.*1051C>G) c.1070C>G (p.Ser357Ter) | |
X | g.154966522G= | CA2466848115 | F8 | c.1175C= (p.Ser392=) c.*1051C= (n.*1051C=) c.1070C= (p.Ser357=) | |
X | g.154966522G>T | CA255093 | F8 | c.1175C>A (p.Ser392Ter) c.*1051C>A (n.*1051C>A) c.1070C>A (p.Ser357Ter) | ClinVar dbSNP |
X | g.154966523A= | CA2466848116 | F8 | c.1174T= (p.Ser392=) c.*1050T= (n.*1050T=) c.1069T= (p.Ser357=) | |
X | g.154966523A>C | CA414916361 | F8 | c.1174T>G (p.Ser392Ala) c.*1050T>G (n.*1050T>G) c.1069T>G (p.Ser357Ala) | |
X | g.154966523A>G | CA255096 | F8 | c.1174T>C (p.Ser392Pro) c.*1050T>C (n.*1050T>C) c.1069T>C (p.Ser357Pro) | ClinVar dbSNP |
X | g.154966523A>T | CA414916364 | F8 | c.1174T>A (p.Ser392Thr) c.*1050T>A (n.*1050T>A) c.1069T>A (p.Ser357Thr) | |
X | g.154966524G>A | CA519365088 | F8 | c.1173C>T (p.Arg391=) c.*1049C>T (n.*1049C>T) c.1068C>T (p.Arg356=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.154966524G>C | CA519365086 | F8 | c.1173C>G (p.Arg391=) c.*1049C>G (n.*1049C>G) c.1068C>G (p.Arg356=) | |
X | g.154966524G= | CA2466848117 | F8 | c.1173C= (p.Arg391=) c.*1049C= (n.*1049C=) c.1068C= (p.Arg356=) | |
X | g.154966524G>T | CA519365084 | F8 | c.1173C>A (p.Arg391=) c.*1049C>A (n.*1049C>A) c.1068C>A (p.Arg356=) | |
X | g.154966525C>A | CA414916367 | F8 | c.1172G>T (p.Arg391Leu) c.*1048G>T (n.*1048G>T) c.1067G>T (p.Arg356Leu) | dbSNP |
X | g.154966525C= | CA2466848118 | F8 | c.1172G= (p.Arg391=) c.*1048G= (n.*1048G=) c.1067G= (p.Arg356=) | |
X | g.154966525C>G | CA414916368 | F8 | c.1172G>C (p.Arg391Pro) c.*1048G>C (n.*1048G>C) c.1067G>C (p.Arg356Pro) | |
X | g.154966525C>T | CA120918 | F8 | c.1172G>A (p.Arg391His) c.*1048G>A (n.*1048G>A) c.1067G>A (p.Arg356His) | ClinVar dbSNP COSMIC COSMIC |
X | g.154966526G>A | CA255026 | F8 | c.1171C>T (p.Arg391Cys) c.*1047C>T (n.*1047C>T) c.1066C>T (p.Arg356Cys) | ClinVar dbSNP COSMIC COSMIC |
X | g.154966526G>C | CA414916378 | F8 | c.1171C>G (p.Arg391Gly) c.*1047C>G (n.*1047C>G) c.1066C>G (p.Arg356Gly) | |
X | g.154966526G= | CA2466848119 | F8 | c.1171C= (p.Arg391=) c.*1047C= (n.*1047C=) c.1066C= (p.Arg356=) | |
X | g.154966526G>T | CA414916376 | F8 | c.1171C>A (p.Arg391Ser) c.*1047C>A (n.*1047C>A) c.1066C>A (p.Arg356Ser) | |
X | g.154966527A>C | CA414916379 | F8 | c.1170T>G (p.Ile390Met) c.*1046T>G (n.*1046T>G) c.1065T>G (p.Ile355Met) | |
X | g.154966527A>G | CA519365100 | F8 | c.1170T>C (p.Ile390=) c.*1046T>C (n.*1046T>C) c.1065T>C (p.Ile355=) | |
X | g.154966527A>T | CA519365101 | F8 | c.1170T>A (p.Ile390=) c.*1046T>A (n.*1046T>A) c.1065T>A (p.Ile355=) | |
X | g.154966528A>C | CA414916380 | F8 | c.1169T>G (p.Ile390Ser) c.*1045T>G (n.*1045T>G) c.1064T>G (p.Ile355Ser) | |
X | g.154966528A>G | CA414916381 | F8 | c.1169T>C (p.Ile390Thr) c.*1045T>C (n.*1045T>C) c.1064T>C (p.Ile355Thr) | ClinVar dbSNP |
X | g.154966528A>T | CA414916382 | F8 | c.1169T>A (p.Ile390Asn) c.*1045T>A (n.*1045T>A) c.1064T>A (p.Ile355Asn) | |
X | g.154966528_154966531delinsATTT | CA2466848120 | F8 | c.1166_1169delinsAAAT (p.Gln389=) c.*1042_*1045delinsAAAT (n.*1042_*1045delinsAAAT) c.1061_1064delinsAAAT (p.Gln354=) | |
X | g.154966529T>A | CA414916389 | F8 | c.1168A>T (p.Ile390Phe) c.*1044A>T (n.*1044A>T) c.1063A>T (p.Ile355Phe) | |
X | g.154966529T>C | CA414916385 | F8 | c.1168A>G (p.Ile390Val) c.*1044A>G (n.*1044A>G) c.1063A>G (p.Ile355Val) | |
X | g.154966529T>G | CA414916386 | F8 | c.1168A>C (p.Ile390Leu) c.*1044A>C (n.*1044A>C) c.1063A>C (p.Ile355Leu) | |
X | g.154966529_154966531del | CA873344499 | F8 | c.1166_1168del (p.Gln389_Ile390delinsLeu) c.*1042_*1044del (n.*1042_*1044del) c.1061_1063del (p.Gln354_Ile355delinsLeu) | dbSNP |
X | g.154966530T>A | CA414916391 | F8 | c.1167A>T (p.Gln389His) c.*1043A>T (n.*1043A>T) c.1062A>T (p.Gln354His) | |
X | g.154966530T>C | CA519365107 | F8 | c.1167A>G (p.Gln389=) c.*1043A>G (n.*1043A>G) c.1062A>G (p.Gln354=) | gnomAD v4 |
X | g.154966530T>G | CA414916392 | F8 | c.1167A>C (p.Gln389His) c.*1043A>C (n.*1043A>C) c.1062A>C (p.Gln354His) | |
X | g.154966531T>A | CA414916393 | F8 | c.1166A>T (p.Gln389Leu) c.*1042A>T (n.*1042A>T) c.1061A>T (p.Gln354Leu) | |
X | g.154966531T>C | CA414916394 | F8 | c.1166A>G (p.Gln389Arg) c.*1042A>G (n.*1042A>G) c.1061A>G (p.Gln354Arg) | gnomAD v4 |
X | g.154966531T>G | CA414916396 | F8 | c.1166A>C (p.Gln389Pro) c.*1042A>C (n.*1042A>C) c.1061A>C (p.Gln354Pro) | |
X | g.154966532G>A | CA414916399 | F8 | c.1165C>T (p.Gln389Ter) c.*1041C>T (n.*1041C>T) c.1060C>T (p.Gln354Ter) | |
X | g.154966532G>C | CA414916403 | F8 | c.1165C>G (p.Gln389Glu) c.*1041C>G (n.*1041C>G) c.1060C>G (p.Gln354Glu) | |
X | g.154966532G>T | CA414916405 | F8 | c.1165C>A (p.Gln389Lys) c.*1041C>A (n.*1041C>A) c.1060C>A (p.Gln354Lys) | |
X | g.154966533del | CA2695237367 | F8 | c.1165del (p.Gln389LysfsTer29) c.*1041del (n.*1041del) c.1060del (p.Gln354LysfsTer29) | |
X | g.154966533G>A | CA519365117 | F8 | c.1164C>T (p.Ile388=) c.*1040C>T (n.*1040C>T) c.1059C>T (p.Ile353=) | |
X | g.154966533G>C | CA414916408 | F8 | c.1164C>G (p.Ile388Met) c.*1040C>G (n.*1040C>G) c.1059C>G (p.Ile353Met) | |
X | g.154966533G>T | CA519365126 | F8 | c.1164C>A (p.Ile388=) c.*1040C>A (n.*1040C>A) c.1059C>A (p.Ile353=) | |
X | g.154966534A>C | CA414916412 | F8 | c.1163T>G (p.Ile388Ser) c.*1039T>G (n.*1039T>G) c.1058T>G (p.Ile353Ser) | |
X | g.154966534A>G | CA414916414 | F8 | c.1163T>C (p.Ile388Thr) c.*1039T>C (n.*1039T>C) c.1058T>C (p.Ile353Thr) | gnomAD v4 |
X | g.154966534A>T | CA414916421 | F8 | c.1163T>A (p.Ile388Asn) c.*1039T>A (n.*1039T>A) c.1058T>A (p.Ile353Asn) | |
X | g.154966535T>A | CA414916423 | F8 | c.1162A>T (p.Ile388Phe) c.*1038A>T (n.*1038A>T) c.1057A>T (p.Ile353Phe) | |
X | g.154966535T>C | CA414916431 | F8 | c.1162A>G (p.Ile388Val) c.*1038A>G (n.*1038A>G) c.1057A>G (p.Ile353Val) | |
X | g.154966535T>G | CA414916427 | F8 | c.1162A>C (p.Ile388Leu) c.*1038A>C (n.*1038A>C) c.1057A>C (p.Ile353Leu) | |
X | g.154966536A>C | CA414916433 | F8 | c.1161T>G (p.Phe387Leu) c.*1037T>G (n.*1037T>G) c.1056T>G (p.Phe352Leu) | |
X | g.154966536A>G | CA519365140 | F8 | c.1161T>C (p.Phe387=) c.*1037T>C (n.*1037T>C) c.1056T>C (p.Phe352=) | |
X | g.154966536A>T | CA414916436 | F8 | c.1161T>A (p.Phe387Leu) c.*1037T>A (n.*1037T>A) c.1056T>A (p.Phe352Leu) | |
X | g.154966537A>C | CA414916440 | F8 | c.1160T>G (p.Phe387Cys) c.*1036T>G (n.*1036T>G) c.1055T>G (p.Phe352Cys) | |
X | g.154966537A>G | CA414916442 | F8 | c.1160T>C (p.Phe387Ser) c.*1036T>C (n.*1036T>C) c.1055T>C (p.Phe352Ser) | |
X | g.154966537A>T | CA414916444 | F8 | c.1160T>A (p.Phe387Tyr) c.*1036T>A (n.*1036T>A) c.1055T>A (p.Phe352Tyr) | |
X | g.154966538A>C | CA414916446 | F8 | c.1159T>G (p.Phe387Val) c.*1035T>G (n.*1035T>G) c.1054T>G (p.Phe352Val) | |
X | g.154966538A>G | CA414916449 | F8 | c.1159T>C (p.Phe387Leu) c.*1035T>C (n.*1035T>C) c.1054T>C (p.Phe352Leu) | |
X | g.154966538A>T | CA414916451 | F8 | c.1159T>A (p.Phe387Ile) c.*1035T>A (n.*1035T>A) c.1054T>A (p.Phe352Ile) | |
X | g.154966539G>A | CA519365150 | F8 | c.1158C>T (p.Ser386=) c.*1034C>T (n.*1034C>T) c.1053C>T (p.Ser351=) | gnomAD v4 |
X | g.154966539G>C | CA519365151 | F8 | c.1158C>G (p.Ser386=) c.*1034C>G (n.*1034C>G) c.1053C>G (p.Ser351=) | |
X | g.154966539G>T | CA519365149 | F8 | c.1158C>A (p.Ser386=) c.*1034C>A (n.*1034C>A) c.1053C>A (p.Ser351=) | |
X | g.154966540G>A | CA414916456 | F8 | c.1157C>T (p.Ser386Phe) c.*1033C>T (n.*1033C>T) c.1052C>T (p.Ser351Phe) | gnomAD v4 COSMIC COSMIC |
X | g.154966540G>C | CA414916457 | F8 | c.1157C>G (p.Ser386Cys) c.*1033C>G (n.*1033C>G) c.1052C>G (p.Ser351Cys) | |
X | g.154966540G= | CA2466848121 | F8 | c.1157C= (p.Ser386=) c.*1033C= (n.*1033C=) c.1052C= (p.Ser351=) | |
X | g.154966540G>T | CA414916459 | F8 | c.1157C>A (p.Ser386Tyr) c.*1033C>A (n.*1033C>A) c.1052C>A (p.Ser351Tyr) | dbSNP |
X | g.154966541A>C | CA414916467 | F8 | c.1156T>G (p.Ser386Ala) c.*1032T>G (n.*1032T>G) c.1051T>G (p.Ser351Ala) | |
X | g.154966541A>G | CA414916465 | F8 | c.1156T>C (p.Ser386Pro) c.*1032T>C (n.*1032T>C) c.1051T>C (p.Ser351Pro) | |
X | g.154966541A>T | CA414916464 | F8 | c.1156T>A (p.Ser386Thr) c.*1032T>A (n.*1032T>A) c.1051T>A (p.Ser351Thr) | |
X | g.154966542A>C | CA519365164 | F8 | c.1155T>G (p.Pro385=) c.*1031T>G (n.*1031T>G) c.1050T>G (p.Pro350=) | |
X | g.154966542A>G | CA519365165 | F8 | c.1155T>C (p.Pro385=) c.*1031T>C (n.*1031T>C) c.1050T>C (p.Pro350=) | dbSNP gnomAD v4 |
X | g.154966542A>T | CA519365167 | F8 | c.1155T>A (p.Pro385=) c.*1031T>A (n.*1031T>A) c.1050T>A (p.Pro350=) | |
X | g.154966543G>A | CA414916471 | F8 | c.1154C>T (p.Pro385Leu) c.*1030C>T (n.*1030C>T) c.1049C>T (p.Pro350Leu) | |
X | g.154966543G>C | CA414916474 | F8 | c.1154C>G (p.Pro385Arg) c.*1030C>G (n.*1030C>G) c.1049C>G (p.Pro350Arg) | |
X | g.154966543G>T | CA414916480 | F8 | c.1154C>A (p.Pro385His) c.*1030C>A (n.*1030C>A) c.1049C>A (p.Pro350His) | |
X | g.154966543_154966545delinsGGA | CA2466848122 | F8 | c.1152_1154delinsTCC (p.Ser384=) c.*1028_*1030delinsTCC (n.*1028_*1030delinsTCC) c.1047_1049delinsTCC (p.Ser349=) | |
X | g.154966544G>A | CA414916483 | F8 | c.1153C>T (p.Pro385Ser) c.*1029C>T (n.*1029C>T) c.1048C>T (p.Pro350Ser) | gnomAD v4 |
X | g.154966544G>C | CA414916485 | F8 | c.1153C>G (p.Pro385Ala) c.*1029C>G (n.*1029C>G) c.1048C>G (p.Pro350Ala) | |
X | g.154966544G>T | CA414916488 | F8 | c.1153C>A (p.Pro385Thr) c.*1029C>A (n.*1029C>A) c.1048C>A (p.Pro350Thr) | |
X | g.154966547_154966548del | CA873344535 | F8 | c.1152_1153del (p.Pro385PhefsTer14) c.*1028_*1029del (n.*1028_*1029del) c.1047_1048del (p.Pro350PhefsTer14) | dbSNP |
X | g.154966545A>C | CA519365169 | F8 | c.1152T>G (p.Ser384=) c.*1028T>G (n.*1028T>G) c.1047T>G (p.Ser349=) | |
X | g.154966545A>G | CA519365171 | F8 | c.1152T>C (p.Ser384=) c.*1028T>C (n.*1028T>C) c.1047T>C (p.Ser349=) | |
X | g.154966545A>T | CA519365172 | F8 | c.1152T>A (p.Ser384=) c.*1028T>A (n.*1028T>A) c.1047T>A (p.Ser349=) | |
X | g.154966546G>A | CA414916492 | F8 | c.1151C>T (p.Ser384Phe) c.*1027C>T (n.*1027C>T) c.1046C>T (p.Ser349Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154966546G>C | CA414916494 | F8 | c.1151C>G (p.Ser384Cys) c.*1027C>G (n.*1027C>G) c.1046C>G (p.Ser349Cys) | |
X | g.154966546G= | CA2466848123 | F8 | c.1151C= (p.Ser384=) c.*1027C= (n.*1027C=) c.1046C= (p.Ser349=) | |
X | g.154966546G>T | CA414916497 | F8 | c.1151C>A (p.Ser384Tyr) c.*1027C>A (n.*1027C>A) c.1046C>A (p.Ser349Tyr) | |
X | g.154966547A= | CA2466848124 | F8 | c.1150T= (p.Ser384=) c.*1026T= (n.*1026T=) c.1045T= (p.Ser349=) | |
X | g.154966547A>C | CA414916500 | F8 | c.1150T>G (p.Ser384Ala) c.*1026T>G (n.*1026T>G) c.1045T>G (p.Ser349Ala) | |
X | g.154966547A>G | CA10568495 | F8 | c.1150T>C (p.Ser384Pro) c.*1026T>C (n.*1026T>C) c.1045T>C (p.Ser349Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154966547A>T | CA414916503 | F8 | c.1150T>A (p.Ser384Thr) c.*1026T>A (n.*1026T>A) c.1045T>A (p.Ser349Thr) | |
X | g.154966548G>A | CA519365182 | F8 | c.1149C>T (p.Asn383=) c.*1025C>T (n.*1025C>T) c.1044C>T (p.Asn348=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154966548G>C | CA414916510 | F8 | c.1149C>G (p.Asn383Lys) c.*1025C>G (n.*1025C>G) c.1044C>G (p.Asn348Lys) | |
X | g.154966548G= | CA2466848125 | F8 | c.1149C= (p.Asn383=) c.*1025C= (n.*1025C=) c.1044C= (p.Asn348=) | |
X | g.154966548G>T | CA414916506 | F8 | c.1149C>A (p.Asn383Lys) c.*1025C>A (n.*1025C>A) c.1044C>A (p.Asn348Lys) | |
X | g.154966549T>A | CA414916513 | F8 | c.1148A>T (p.Asn383Ile) c.*1024A>T (n.*1024A>T) c.1043A>T (p.Asn348Ile) | |
X | g.154966549T>C | CA414916519 | F8 | c.1148A>G (p.Asn383Ser) c.*1024A>G (n.*1024A>G) c.1043A>G (p.Asn348Ser) | |
X | g.154966549T>G | CA414916516 | F8 | c.1148A>C (p.Asn383Thr) c.*1024A>C (n.*1024A>C) c.1043A>C (p.Asn348Thr) | |
X | g.154966550T>A | CA414916521 | F8 | c.1147A>T (p.Asn383Tyr) c.*1023A>T (n.*1023A>T) c.1042A>T (p.Asn348Tyr) | |
X | g.154966550T>C | CA414916528 | F8 | c.1147A>G (p.Asn383Asp) c.*1023A>G (n.*1023A>G) c.1042A>G (p.Asn348Asp) | |
X | g.154966550T>G | CA414916526 | F8 | c.1147A>C (p.Asn383His) c.*1023A>C (n.*1023A>C) c.1042A>C (p.Asn348His) | |
X | g.154966551G>A | CA519365196 | F8 | c.1146C>T (p.Asp382=) c.*1022C>T (n.*1022C>T) c.1041C>T (p.Asp347=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154966551G>C | CA414916531 | F8 | c.1146C>G (p.Asp382Glu) c.*1022C>G (n.*1022C>G) c.1041C>G (p.Asp347Glu) | |
X | g.154966551G= | CA2466848126 | F8 | c.1146C= (p.Asp382=) c.*1022C= (n.*1022C=) c.1041C= (p.Asp347=) | |
X | g.154966551G>T | CA414916538 | F8 | c.1146C>A (p.Asp382Glu) c.*1022C>A (n.*1022C>A) c.1041C>A (p.Asp347Glu) | |
X | g.154966552T>A | CA414916542 | F8 | c.1145A>T (p.Asp382Val) c.*1021A>T (n.*1021A>T) c.1040A>T (p.Asp347Val) | |
X | g.154966552T>C | CA414916546 | F8 | c.1145A>G (p.Asp382Gly) c.*1021A>G (n.*1021A>G) c.1040A>G (p.Asp347Gly) | |
X | g.154966552T>G | CA414916548 | F8 | c.1145A>C (p.Asp382Ala) c.*1021A>C (n.*1021A>C) c.1040A>C (p.Asp347Ala) | |
X | g.154966553C>A | CA414916560 | F8 | c.1144G>T (p.Asp382Tyr) c.*1020G>T (n.*1020G>T) c.1039G>T (p.Asp347Tyr) | |
X | g.154966553C>G | CA414916561 | F8 | c.1144G>C (p.Asp382His) c.*1020G>C (n.*1020G>C) c.1039G>C (p.Asp347His) | |
X | g.154966553C>T | CA414916563 | F8 | c.1144G>A (p.Asp382Asn) c.*1020G>A (n.*1020G>A) c.1039G>A (p.Asp347Asn) | COSMIC COSMIC |
X | g.154966554A>C | CA414916565 | F8 | c.1143T>G (p.Asp381Glu) c.*1019T>G (n.*1019T>G) c.1038T>G (p.Asp346Glu) | |
X | g.154966554A>G | CA519365231 | F8 | c.1143T>C (p.Asp381=) c.*1019T>C (n.*1019T>C) c.1038T>C (p.Asp346=) | |
X | g.154966554A>T | CA414916568 | F8 | c.1143T>A (p.Asp381Glu) c.*1019T>A (n.*1019T>A) c.1038T>A (p.Asp346Glu) | |
X | g.154966555T>A | CA414916572 | F8 | c.1142A>T (p.Asp381Val) c.*1018A>T (n.*1018A>T) c.1037A>T (p.Asp346Val) | |
X | g.154966555T>C | CA414916574 | F8 | c.1142A>G (p.Asp381Gly) c.*1018A>G (n.*1018A>G) c.1037A>G (p.Asp346Gly) | |
X | g.154966555T>G | CA414916582 | F8 | c.1142A>C (p.Asp381Ala) c.*1018A>C (n.*1018A>C) c.1037A>C (p.Asp346Ala) | |
X | g.154966556C>A | CA414916587 | F8 | c.1141G>T (p.Asp381Tyr) c.*1017G>T (n.*1017G>T) c.1036G>T (p.Asp346Tyr) | |
X | g.154966556C>G | CA414916592 | F8 | c.1141G>C (p.Asp381His) c.*1017G>C (n.*1017G>C) c.1036G>C (p.Asp346His) | |
X | g.154966556C>T | CA414916589 | F8 | c.1141G>A (p.Asp381Asn) c.*1017G>A (n.*1017G>A) c.1036G>A (p.Asp346Asn) | COSMIC COSMIC |
X | g.154966557A= | CA2466848127 | F8 | c.1140T= (p.Asp380=) c.*1016T= (n.*1016T=) c.1035T= (p.Asp345=) | |
X | g.154966557A>C | CA414916595 | F8 | c.1140T>G (p.Asp380Glu) c.*1016T>G (n.*1016T>G) c.1035T>G (p.Asp345Glu) | |
X | g.154966557A>G | CA519365243 | F8 | c.1140T>C (p.Asp380=) c.*1016T>C (n.*1016T>C) c.1035T>C (p.Asp345=) | dbSNP |
X | g.154966557A>T | CA414916598 | F8 | c.1140T>A (p.Asp380Glu) c.*1016T>A (n.*1016T>A) c.1035T>A (p.Asp345Glu) | |
X | g.154966558T>A | CA414916601 | F8 | c.1139A>T (p.Asp380Val) c.*1015A>T (n.*1015A>T) c.1034A>T (p.Asp345Val) | |
X | g.154966558T>C | CA10568496 | F8 | c.1139A>G (p.Asp380Gly) c.*1015A>G (n.*1015A>G) c.1034A>G (p.Asp345Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966558T>G | CA414916606 | F8 | c.1139A>C (p.Asp380Ala) c.*1015A>C (n.*1015A>C) c.1034A>C (p.Asp345Ala) | |
X | g.154966558T= | CA2466848128 | F8 | c.1139A= (p.Asp380=) c.*1015A= (n.*1015A=) c.1034A= (p.Asp345=) | |
X | g.154966559C>A | CA414916609 | F8 | c.1138G>T (p.Asp380Tyr) c.*1014G>T (n.*1014G>T) c.1033G>T (p.Asp345Tyr) | |
X | g.154966559C= | CA2466848129 | F8 | c.1138G= (p.Asp380=) c.*1014G= (n.*1014G=) c.1033G= (p.Asp345=) | |
X | g.154966559C>G | CA414916615 | F8 | c.1138G>C (p.Asp380His) c.*1014G>C (n.*1014G>C) c.1033G>C (p.Asp345His) | |
X | g.154966559C>T | CA10568497 | F8 | c.1138G>A (p.Asp380Asn) c.*1014G>A (n.*1014G>A) c.1033G>A (p.Asp345Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154966561_154966572del | CA2695237371 | F8 | c.1127_1138del (p.Val376_Phe379del) c.*1003_*1014del (n.*1003_*1014del) c.1022_1033del (p.Val341_Phe344del) | |
X | g.154966560A= | CA2466848130 | F8 | c.1137T= (p.Phe379=) c.*1013T= (n.*1013T=) c.1032T= (p.Phe344=) | |
X | g.154966560A>C | CA414916618 | F8 | c.1137T>G (p.Phe379Leu) c.*1013T>G (n.*1013T>G) c.1032T>G (p.Phe344Leu) | |
X | g.154966560A>G | CA519365361 | F8 | c.1137T>C (p.Phe379=) c.*1013T>C (n.*1013T>C) c.1032T>C (p.Phe344=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154966560A>T | CA414916620 | F8 | c.1137T>A (p.Phe379Leu) c.*1013T>A (n.*1013T>A) c.1032T>A (p.Phe344Leu) | |
X | g.154966561A>C | CA414916624 | F8 | c.1136T>G (p.Phe379Cys) c.*1012T>G (n.*1012T>G) c.1031T>G (p.Phe344Cys) | gnomAD v4 |
X | g.154966561A>G | CA414916629 | F8 | c.1136T>C (p.Phe379Ser) c.*1012T>C (n.*1012T>C) c.1031T>C (p.Phe344Ser) | |
X | g.154966561A>T | CA414916626 | F8 | c.1136T>A (p.Phe379Tyr) c.*1012T>A (n.*1012T>A) c.1031T>A (p.Phe344Tyr) | |
X | g.154966562A>C | CA414916631 | F8 | c.1135T>G (p.Phe379Val) c.*1011T>G (n.*1011T>G) c.1030T>G (p.Phe344Val) | |
X | g.154966562A>G | CA414916634 | F8 | c.1135T>C (p.Phe379Leu) c.*1011T>C (n.*1011T>C) c.1030T>C (p.Phe344Leu) | |
X | g.154966562A>T | CA414916635 | F8 | c.1135T>A (p.Phe379Ile) c.*1011T>A (n.*1011T>A) c.1030T>A (p.Phe344Ile) | |
X | g.154966562_154966563delinsAC | CA2466848131 | F8 | c.1134_1135delinsGT (p.Arg378=) c.*1010_*1011delinsGT (n.*1010_*1011delinsGT) c.1029_1030delinsGT (p.Arg343=) | |
X | g.154966563C>A | CA10568499 | F8 | c.1134G>T (p.Arg378Ser) c.*1010G>T (n.*1010G>T) c.1029G>T (p.Arg343Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154966563C= | CA2466848132 | F8 | c.1134G= (p.Arg378=) c.*1010G= (n.*1010G=) c.1029G= (p.Arg343=) | |
X | g.154966563C>G | CA414916636 | F8 | c.1134G>C (p.Arg378Ser) c.*1010G>C (n.*1010G>C) c.1029G>C (p.Arg343Ser) | |
X | g.154966563C>T | CA10568498 | F8 | c.1134G>A (p.Arg378=) c.*1010G>A (n.*1010G>A) c.1029G>A (p.Arg343=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154966564del | CA873344580 | F8 | c.1134del (p.Arg378SerfsTer?) c.*1010del (n.*1010del) c.1029del (p.Arg343SerfsTer?) | dbSNP |
X | g.154966564C>A | CA414916639 | F8 | c.1133G>T (p.Arg378Met) c.*1009G>T (n.*1009G>T) c.1028G>T (p.Arg343Met) | |
X | g.154966564C>G | CA414916642 | F8 | c.1133G>C (p.Arg378Thr) c.*1009G>C (n.*1009G>C) c.1028G>C (p.Arg343Thr) | |
X | g.154966564C>T | CA414916646 | F8 | c.1133G>A (p.Arg378Lys) c.*1009G>A (n.*1009G>A) c.1028G>A (p.Arg343Lys) | gnomAD v4 |
X | g.154966565T>A | CA414916649 | F8 | c.1132A>T (p.Arg378Trp) c.*1008A>T (n.*1008A>T) c.1027A>T (p.Arg343Trp) | gnomAD v4 |
X | g.154966565T>C | CA414916651 | F8 | c.1132A>G (p.Arg378Gly) c.*1008A>G (n.*1008A>G) c.1027A>G (p.Arg343Gly) | |
X | g.154966565T>G | CA519365392 | F8 | c.1132A>C (p.Arg378=) c.*1008A>C (n.*1008A>C) c.1027A>C (p.Arg343=) | |
X | g.154966566G>A | CA519365396 | F8 | c.1131C>T (p.Val377=) c.*1007C>T (n.*1007C>T) c.1026C>T (p.Val342=) | |
X | g.154966566G>C | CA519365399 | F8 | c.1131C>G (p.Val377=) c.*1007C>G (n.*1007C>G) c.1026C>G (p.Val342=) | dbSNP |
X | g.154966566G= | CA2466848133 | F8 | c.1131C= (p.Val377=) c.*1007C= (n.*1007C=) c.1026C= (p.Val342=) | |
X | g.154966566G>T | CA519365402 | F8 | c.1131C>A (p.Val377=) c.*1007C>A (n.*1007C>A) c.1026C>A (p.Val342=) | |
X | g.154966567A>C | CA414916654 | F8 | c.1130T>G (p.Val377Gly) c.*1006T>G (n.*1006T>G) c.1025T>G (p.Val342Gly) | |
X | g.154966567A>G | CA414916660 | F8 | c.1130T>C (p.Val377Ala) c.*1006T>C (n.*1006T>C) c.1025T>C (p.Val342Ala) | |
X | g.154966567A>T | CA414916657 | F8 | c.1130T>A (p.Val377Asp) c.*1006T>A (n.*1006T>A) c.1025T>A (p.Val342Asp) | |
X | g.154966568C>A | CA414916662 | F8 | c.1129G>T (p.Val377Phe) c.*1005G>T (n.*1005G>T) c.1024G>T (p.Val342Phe) | |
X | g.154966568C>G | CA414916665 | F8 | c.1129G>C (p.Val377Leu) c.*1005G>C (n.*1005G>C) c.1024G>C (p.Val342Leu) | |
X | g.154966568C>T | CA414916667 | F8 | c.1129G>A (p.Val377Ile) c.*1005G>A (n.*1005G>A) c.1024G>A (p.Val342Ile) | |
X | g.154966569C>A | CA519365405 | F8 | c.1128G>T (p.Val376=) c.*1004G>T (n.*1004G>T) c.1023G>T (p.Val341=) | |
X | g.154966569C>G | CA519365409 | F8 | c.1128G>C (p.Val376=) c.*1004G>C (n.*1004G>C) c.1023G>C (p.Val341=) | |
X | g.154966569C>T | CA519365410 | F8 | c.1128G>A (p.Val376=) c.*1004G>A (n.*1004G>A) c.1023G>A (p.Val341=) | |
X | g.154966570A>C | CA414916672 | F8 | c.1127T>G (p.Val376Gly) c.*1003T>G (n.*1003T>G) c.1022T>G (p.Val341Gly) | |
X | g.154966570A>G | CA414916674 | F8 | c.1127T>C (p.Val376Ala) c.*1003T>C (n.*1003T>C) c.1022T>C (p.Val341Ala) | |
X | g.154966570A>T | CA414916677 | F8 | c.1127T>A (p.Val376Glu) c.*1003T>A (n.*1003T>A) c.1022T>A (p.Val341Glu) | |
X | g.154966571del | CA2695237373 | F8 | c.1126del (p.Val376TrpfsTer?) c.*1002del (n.*1002del) c.1021del (p.Val341TrpfsTer?) | |
X | g.154966571C>A | CA414916678 | F8 | c.1126G>T (p.Val376Leu) c.*1002G>T (n.*1002G>T) c.1021G>T (p.Val341Leu) | COSMIC COSMIC |
X | g.154966571C= | CA2466848134 | F8 | c.1126G= (p.Val376=) c.*1002G= (n.*1002G=) c.1021G= (p.Val341=) | |
X | g.154966571C>G | CA414916679 | F8 | c.1126G>C (p.Val376Leu) c.*1002G>C (n.*1002G>C) c.1021G>C (p.Val341Leu) | |
X | g.154966571C>T | CA414916680 | F8 | c.1126G>A (p.Val376Met) c.*1002G>A (n.*1002G>A) c.1021G>A (p.Val341Met) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154966572A>C | CA414916683 | F8 | c.1125T>G (p.Asp375Glu) c.*1001T>G (n.*1001T>G) c.1020T>G (p.Asp340Glu) | |
X | g.154966572A>G | CA519365424 | F8 | c.1125T>C (p.Asp375=) c.*1001T>C (n.*1001T>C) c.1020T>C (p.Asp340=) | |
X | g.154966572A>T | CA414916682 | F8 | c.1125T>A (p.Asp375Glu) c.*1001T>A (n.*1001T>A) c.1020T>A (p.Asp340Glu) | |
X | g.154966573T>A | CA414916687 | F8 | c.1124A>T (p.Asp375Val) c.*1000A>T (n.*1000A>T) c.1019A>T (p.Asp340Val) | |
X | g.154966573T>C | CA414916692 | F8 | c.1124A>G (p.Asp375Gly) c.*1000A>G (n.*1000A>G) c.1019A>G (p.Asp340Gly) | |
X | g.154966573T>G | CA414916690 | F8 | c.1124A>C (p.Asp375Ala) c.*1000A>C (n.*1000A>C) c.1019A>C (p.Asp340Ala) | |
X | g.154966574C>A | CA414916696 | F8 | c.1123G>T (p.Asp375Tyr) c.*999G>T (n.*999G>T) c.1018G>T (p.Asp340Tyr) | |
X | g.154966574C>G | CA414916700 | F8 | c.1123G>C (p.Asp375His) c.*999G>C (n.*999G>C) c.1018G>C (p.Asp340His) | gnomAD v4 |
X | g.154966574C>T | CA414916702 | F8 | c.1123G>A (p.Asp375Asn) c.*999G>A (n.*999G>A) c.1018G>A (p.Asp340Asn) | gnomAD v4 |
X | g.154966575C>A | CA414916704 | F8 | c.1122G>T (p.Met374Ile) c.*998G>T (n.*998G>T) c.1017G>T (p.Met339Ile) | |
X | g.154966575C= | CA2466848135 | F8 | c.1122G= (p.Met374=) c.*998G= (n.*998G=) c.1017G= (p.Met339=) | |
X | g.154966575C>G | CA414916707 | F8 | c.1122G>C (p.Met374Ile) c.*998G>C (n.*998G>C) c.1017G>C (p.Met339Ile) | dbSNP |
X | g.154966575C>T | CA414916712 | F8 | c.1122G>A (p.Met374Ile) c.*998G>A (n.*998G>A) c.1017G>A (p.Met339Ile) |