| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68784889C>A | CA381633216 | CPT1A | c.1089G>T (p.Met363Ile) c.1185G>T (p.Met395Ile) | |
| 11 | g.68784889C>G | CA381633217 | CPT1A | c.1089G>C (p.Met363Ile) c.1185G>C (p.Met395Ile) | |
| 11 | g.68784889C>T | CA381633220 | CPT1A | c.1089G>A (p.Met363Ile) c.1185G>A (p.Met395Ile) | |
| 11 | g.68784890A>C | CA381633222 | CPT1A | c.1088T>G (p.Met363Arg) c.1184T>G (p.Met395Arg) | |
| 11 | g.68784890A>G | CA381633226 | CPT1A | c.1088T>C (p.Met363Thr) c.1184T>C (p.Met395Thr) | |
| 11 | g.68784890A>T | CA381633224 | CPT1A | c.1088T>A (p.Met363Lys) c.1184T>A (p.Met395Lys) | |
| 11 | g.68784891T>A | CA381633228 | CPT1A | c.1087A>T (p.Met363Leu) c.1183A>T (p.Met395Leu) | gnomAD v4 |
| 11 | g.68784891T>C | CA381633230 | CPT1A | c.1087A>G (p.Met363Val) c.1183A>G (p.Met395Val) | |
| 11 | g.68784891T>G | CA381633231 | CPT1A | c.1087A>C (p.Met363Leu) c.1183A>C (p.Met395Leu) | |
| 11 | g.68784892C>A | CA381633233 | CPT1A | c.1086G>T (p.Gln362His) c.1182G>T (p.Gln394His) | |
| 11 | g.68784892C>G | CA381633235 | CPT1A | c.1086G>C (p.Gln362His) c.1182G>C (p.Gln394His) | |
| 11 | g.68784892C>T | CA475197635 | CPT1A | c.1086G>A (p.Gln362=) c.1182G>A (p.Gln394=) | |
| 11 | g.68784893T>A | CA381633237 | CPT1A | c.1085A>T (p.Gln362Leu) c.1181A>T (p.Gln394Leu) | |
| 11 | g.68784893T>C | CA381633240 | CPT1A | c.1085A>G (p.Gln362Arg) c.1181A>G (p.Gln394Arg) | |
| 11 | g.68784893T>G | CA381633241 | CPT1A | c.1085A>C (p.Gln362Pro) c.1181A>C (p.Gln394Pro) | |
| 11 | g.68784894G>A | CA381633243 | CPT1A | c.1084C>T (p.Gln362Ter) c.1180C>T (p.Gln394Ter) | |
| 11 | g.68784894G>C | CA381633245 | CPT1A | c.1084C>G (p.Gln362Glu) c.1180C>G (p.Gln394Glu) | |
| 11 | g.68784894G>T | CA381633247 | CPT1A | c.1084C>A (p.Gln362Lys) c.1180C>A (p.Gln394Lys) | |
| 11 | g.68784895C>A | CA381633249 | CPT1A | c.1083G>T (p.Gln361His) c.1179G>T (p.Gln393His) | |
| 11 | g.68784895C>G | CA381633252 | CPT1A | c.1083G>C (p.Gln361His) c.1179G>C (p.Gln393His) | |
| 11 | g.68784895C>T | CA6152421 | CPT1A | c.1083G>A (p.Gln361=) c.1179G>A (p.Gln393=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784896T>A | CA381633254 | CPT1A | c.1082A>T (p.Gln361Leu) c.1178A>T (p.Gln393Leu) | |
| 11 | g.68784896T>C | CA381633256 | CPT1A | c.1082A>G (p.Gln361Arg) c.1178A>G (p.Gln393Arg) | |
| 11 | g.68784896T>G | CA381633259 | CPT1A | c.1082A>C (p.Gln361Pro) c.1178A>C (p.Gln393Pro) | gnomAD v4 |
| 11 | g.68784897G>A | CA381633261 | CPT1A | c.1081C>T (p.Gln361Ter) c.1177C>T (p.Gln393Ter) | |
| 11 | g.68784897G>C | CA381633263 | CPT1A | c.1081C>G (p.Gln361Glu) c.1177C>G (p.Gln393Glu) | |
| 11 | g.68784897G>T | CA381633265 | CPT1A | c.1081C>A (p.Gln361Lys) c.1177C>A (p.Gln393Lys) | |
| 11 | g.68784898C>A | CA381633268 | CPT1A | c.1080G>T (p.Glu360Asp) c.1176G>T (p.Glu392Asp) | |
| 11 | g.68784898C>G | CA381633270 | CPT1A | c.1080G>C (p.Glu360Asp) c.1176G>C (p.Glu392Asp) | gnomAD v4 |
| 11 | g.68784898C>T | CA223375836 | CPT1A | c.1080G>A (p.Glu360=) c.1176G>A (p.Glu392=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68784899T>A | CA381633273 | CPT1A | c.1079A>T (p.Glu360Val) c.1175A>T (p.Glu392Val) | |
| 11 | g.68784899T>C | CA340850 | CPT1A | c.1079A>G (p.Glu360Gly) c.1175A>G (p.Glu392Gly) | ClinVar dbSNP |
| 11 | g.68784899T>G | CA381633274 | CPT1A | c.1079A>C (p.Glu360Ala) c.1175A>C (p.Glu392Ala) | |
| 11 | g.68784899T= | CA2581028852 | CPT1A | c.1079A= (p.Glu360=) c.1175A= (p.Glu392=) | |
| 11 | g.68784900C>A | CA381633279 | CPT1A | c.1078G>T (p.Glu360Ter) c.1174G>T (p.Glu392Ter) | |
| 11 | g.68784900C>G | CA381633276 | CPT1A | c.1078G>C (p.Glu360Gln) c.1174G>C (p.Glu392Gln) | |
| 11 | g.68784900C>T | CA6152422 | CPT1A | c.1078G>A (p.Glu360Lys) c.1174G>A (p.Glu392Lys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.68784901C>A | CA381633282 | CPT1A | c.1077G>T (p.Met359Ile) c.1173G>T (p.Met391Ile) | |
| 11 | g.68784901C>G | CA381633283 | CPT1A | c.1077G>C (p.Met359Ile) c.1173G>C (p.Met391Ile) | |
| 11 | g.68784901C>T | CA381633286 | CPT1A | c.1077G>A (p.Met359Ile) c.1173G>A (p.Met391Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784902A>C | CA381633288 | CPT1A | c.1076T>G (p.Met359Arg) c.1172T>G (p.Met391Arg) | |
| 11 | g.68784902A>G | CA381633290 | CPT1A | c.1076T>C (p.Met359Thr) c.1172T>C (p.Met391Thr) | gnomAD v4 |
| 11 | g.68784902A>T | CA381633292 | CPT1A | c.1076T>A (p.Met359Lys) c.1172T>A (p.Met391Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784903T>A | CA381633294 | CPT1A | c.1075A>T (p.Met359Leu) c.1171A>T (p.Met391Leu) | |
| 11 | g.68784903T>C | CA381633295 | CPT1A | c.1075A>G (p.Met359Val) c.1171A>G (p.Met391Val) | gnomAD v4 |
| 11 | g.68784903T>G | CA381633297 | CPT1A | c.1075A>C (p.Met359Leu) c.1171A>C (p.Met391Leu) | gnomAD v4 |
| 11 | g.68784904C>A | CA381633298 | CPT1A | c.1074G>T (p.Glu358Asp) c.1170G>T (p.Glu390Asp) | dbSNP |
| 11 | g.68784904C>G | CA381633300 | CPT1A | c.1074G>C (p.Glu358Asp) c.1170G>C (p.Glu390Asp) | |
| 11 | g.68784904C>T | CA475197686 | CPT1A | c.1074G>A (p.Glu358=) c.1170G>A (p.Glu390=) | |
| 11 | g.68784905T>A | CA381633304 | CPT1A | c.1073A>T (p.Glu358Val) c.1169A>T (p.Glu390Val) | |
| 11 | g.68784905T>C | CA381633306 | CPT1A | c.1073A>G (p.Glu358Gly) c.1169A>G (p.Glu390Gly) | |
| 11 | g.68784905T>G | CA381633303 | CPT1A | c.1073A>C (p.Glu358Ala) c.1169A>C (p.Glu390Ala) | |
| 11 | g.68784906C>A | CA381633311 | CPT1A | c.1072G>T (p.Glu358Ter) c.1168G>T (p.Glu390Ter) | gnomAD v4 |
| 11 | g.68784906C>G | CA381633308 | CPT1A | c.1072G>C (p.Glu358Gln) c.1168G>C (p.Glu390Gln) | |
| 11 | g.68784906C>T | CA381633309 | CPT1A | c.1072G>A (p.Glu358Lys) c.1168G>A (p.Glu390Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784907C>A | CA475197692 | CPT1A | c.1071G>T (p.Arg357=) c.1167G>T (p.Arg389=) | |
| 11 | g.68784907C>G | CA475197695 | CPT1A | c.1071G>C (p.Arg357=) c.1167G>C (p.Arg389=) | |
| 11 | g.68784907C>T | CA475197697 | CPT1A | c.1071G>A (p.Arg357=) c.1167G>A (p.Arg389=) | |
| 11 | g.68784908C>A | CA381633314 | CPT1A | c.1070G>T (p.Arg357Leu) c.1166G>T (p.Arg389Leu) | dbSNP |
| 11 | g.68784908C>G | CA381633315 | CPT1A | c.1070G>C (p.Arg357Pro) c.1166G>C (p.Arg389Pro) | |
| 11 | g.68784908C>T | CA6152423 | CPT1A | c.1070G>A (p.Arg357Gln) c.1166G>A (p.Arg389Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784909G>A | CA344960 | CPT1A | c.1069C>T (p.Arg357Trp) c.1165C>T (p.Arg389Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784909G>C | CA381633319 | CPT1A | c.1069C>G (p.Arg357Gly) c.1165C>G (p.Arg389Gly) | |
| 11 | g.68784909G= | CA2581028853 | CPT1A | c.1069C= (p.Arg357=) c.1165C= (p.Arg389=) | |
| 11 | g.68784909G>T | CA475197707 | CPT1A | c.1069C>A (p.Arg357=) c.1165C>A (p.Arg389=) | dbSNP gnomAD v4 |
| 11 | g.68784910G>A | CA475197713 | CPT1A | c.1068C>T (p.Pro356=) c.1164C>T (p.Pro388=) | |
| 11 | g.68784910G>C | CA475197715 | CPT1A | c.1068C>G (p.Pro356=) c.1164C>G (p.Pro388=) | |
| 11 | g.68784910G>T | CA475197717 | CPT1A | c.1068C>A (p.Pro356=) c.1164C>A (p.Pro388=) | |
| 11 | g.68784911G>A | CA381633322 | CPT1A | c.1067C>T (p.Pro356Leu) c.1163C>T (p.Pro388Leu) | |
| 11 | g.68784911G>C | CA381633324 | CPT1A | c.1067C>G (p.Pro356Arg) c.1163C>G (p.Pro388Arg) | |
| 11 | g.68784911G>T | CA381633326 | CPT1A | c.1067C>A (p.Pro356His) c.1163C>A (p.Pro388His) | |
| 11 | g.68784912G>A | CA381633328 | CPT1A | c.1066C>T (p.Pro356Ser) c.1162C>T (p.Pro388Ser) | |
| 11 | g.68784912G>C | CA381633330 | CPT1A | c.1066C>G (p.Pro356Ala) c.1162C>G (p.Pro388Ala) | |
| 11 | g.68784912G>T | CA381633332 | CPT1A | c.1066C>A (p.Pro356Thr) c.1162C>A (p.Pro388Thr) | |
| 11 | g.68784913C>A | CA223375844 | CPT1A | c.1065G>T (p.Lys355Asn) c.1161G>T (p.Lys387Asn) | dbSNP |
| 11 | g.68784913C>G | CA381633334 | CPT1A | c.1065G>C (p.Lys355Asn) c.1161G>C (p.Lys387Asn) | |
| 11 | g.68784913C>T | CA475197736 | CPT1A | c.1065G>A (p.Lys355=) c.1161G>A (p.Lys387=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68784914T>A | CA381633336 | CPT1A | c.1064A>T (p.Lys355Met) c.1160A>T (p.Lys387Met) | |
| 11 | g.68784914T>C | CA381633338 | CPT1A | c.1064A>G (p.Lys355Arg) c.1160A>G (p.Lys387Arg) | |
| 11 | g.68784914T>G | CA381633339 | CPT1A | c.1064A>C (p.Lys355Thr) c.1160A>C (p.Lys387Thr) | |
| 11 | g.68784915T>A | CA381633342 | CPT1A | c.1063A>T (p.Lys355Ter) c.1159A>T (p.Lys387Ter) | gnomAD v4 |
| 11 | g.68784915T>C | CA381633344 | CPT1A | c.1063A>G (p.Lys355Glu) c.1159A>G (p.Lys387Glu) | gnomAD v4 |
| 11 | g.68784915T>G | CA381633346 | CPT1A | c.1063A>C (p.Lys355Gln) c.1159A>C (p.Lys387Gln) | |
| 11 | g.68784916C>A | CA475197755 | CPT1A | c.1062G>T (p.Leu354=) c.1158G>T (p.Leu386=) | |
| 11 | g.68784916C>G | CA475197753 | CPT1A | c.1062G>C (p.Leu354=) c.1158G>C (p.Leu386=) | |
| 11 | g.68784916C>T | CA6152424 | CPT1A | c.1062G>A (p.Leu354=) c.1158G>A (p.Leu386=) | dbSNP ExAC gnomAD v2 |
| 11 | g.68784917A>C | CA381633348 | CPT1A | c.1061T>G (p.Leu354Arg) c.1157T>G (p.Leu386Arg) | |
| 11 | g.68784917A>G | CA381633350 | CPT1A | c.1061T>C (p.Leu354Pro) c.1157T>C (p.Leu386Pro) | |
| 11 | g.68784917A>T | CA381633352 | CPT1A | c.1061T>A (p.Leu354Gln) c.1157T>A (p.Leu386Gln) | |
| 11 | g.68784918G>A | CA475197763 | CPT1A | c.1060C>T (p.Leu354=) c.1156C>T (p.Leu386=) | dbSNP |
| 11 | g.68784918G>C | CA381633354 | CPT1A | c.1060C>G (p.Leu354Val) c.1156C>G (p.Leu386Val) | |
| 11 | g.68784918G>T | CA381633355 | CPT1A | c.1060C>A (p.Leu354Met) c.1156C>A (p.Leu386Met) | |
| 11 | g.68784919C>A | CA475197773 | CPT1A | c.1059G>T (p.Leu353=) c.1155G>T (p.Leu385=) | |
| 11 | g.68784919C>G | CA475197771 | CPT1A | c.1059G>C (p.Leu353=) c.1155G>C (p.Leu385=) | |
| 11 | g.68784919C>T | CA475197769 | CPT1A | c.1059G>A (p.Leu353=) c.1155G>A (p.Leu385=) | |
| 11 | g.68784920A>C | CA381633360 | CPT1A | c.1058T>G (p.Leu353Arg) c.1154T>G (p.Leu385Arg) | |
| 11 | g.68784920A>G | CA6152425 | CPT1A | c.1058T>C (p.Leu353Pro) c.1154T>C (p.Leu385Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784920A>T | CA381633358 | CPT1A | c.1058T>A (p.Leu353Gln) c.1154T>A (p.Leu385Gln) | |
| 11 | g.68784921G>A | CA475197782 | CPT1A | c.1057C>T (p.Leu353=) c.1153C>T (p.Leu385=) | ClinVar |
| 11 | g.68784921G>C | CA381633361 | CPT1A | c.1057C>G (p.Leu353Val) c.1153C>G (p.Leu385Val) | |
| 11 | g.68784921G>T | CA381633362 | CPT1A | c.1057C>A (p.Leu353Met) c.1153C>A (p.Leu385Met) | |
| 11 | g.68784922C>A | CA475197787 | CPT1A | c.1056G>T (p.Arg352=) c.1152G>T (p.Arg384=) | |
| 11 | g.68784922C>G | CA475197794 | CPT1A | c.1056G>C (p.Arg352=) c.1152G>C (p.Arg384=) | |
| 11 | g.68784922C>T | CA475197790 | CPT1A | c.1056G>A (p.Arg352=) c.1152G>A (p.Arg384=) | ClinVar dbSNP |
| 11 | g.68784923C>A | CA381633364 | CPT1A | c.1055G>T (p.Arg352Leu) c.1151G>T (p.Arg384Leu) | gnomAD v4 |
| 11 | g.68784923C>G | CA381633367 | CPT1A | c.1055G>C (p.Arg352Pro) c.1151G>C (p.Arg384Pro) | |
| 11 | g.68784923C>T | CA6152426 | CPT1A | c.1055G>A (p.Arg352Gln) c.1151G>A (p.Arg384Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784924G>A | CA6152427 | CPT1A | c.1054C>T (p.Arg352Trp) c.1150C>T (p.Arg384Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784924G>C | CA381633370 | CPT1A | c.1054C>G (p.Arg352Gly) c.1150C>G (p.Arg384Gly) | |
| 11 | g.68784924G>T | CA475197816 | CPT1A | c.1054C>A (p.Arg352=) c.1150C>A (p.Arg384=) | |
| 11 | g.68784925C>A | CA475197820 | CPT1A | c.1053G>T (p.Gly351=) c.1149G>T (p.Gly383=) | |
| 11 | g.68784925C>G | CA475197822 | CPT1A | c.1053G>C (p.Gly351=) c.1149G>C (p.Gly383=) | |
| 11 | g.68784925C>T | CA475197823 | CPT1A | c.1053G>A (p.Gly351=) c.1149G>A (p.Gly383=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.68784926C>A | CA381633372 | CPT1A | c.1052G>T (p.Gly351Val) c.1148G>T (p.Gly383Val) | |
| 11 | g.68784926C>G | CA381633373 | CPT1A | c.1052G>C (p.Gly351Ala) c.1148G>C (p.Gly383Ala) | |
| 11 | g.68784926C>T | CA381633374 | CPT1A | c.1052G>A (p.Gly351Glu) c.1148G>A (p.Gly383Glu) | |
| 11 | g.68784927C>A | CA381633375 | CPT1A | c.1051G>T (p.Gly351Trp) c.1147G>T (p.Gly383Trp) | |
| 11 | g.68784927C>G | CA381633376 | CPT1A | c.1051G>C (p.Gly351Arg) c.1147G>C (p.Gly383Arg) | |
| 11 | g.68784927C>T | CA381633377 | CPT1A | c.1051G>A (p.Gly351Arg) c.1147G>A (p.Gly383Arg) | |
| 11 | g.68784928A>C | CA381633379 | CPT1A | c.1050T>G (p.Asp350Glu) c.1146T>G (p.Asp382Glu) | |
| 11 | g.68784928A>G | CA6152428 | CPT1A | c.1050T>C (p.Asp350=) c.1146T>C (p.Asp382=) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.68784928A>T | CA381633378 | CPT1A | c.1050T>A (p.Asp350Glu) c.1146T>A (p.Asp382Glu) | |
| 11 | g.68784929T>A | CA381633380 | CPT1A | c.1049A>T (p.Asp350Val) c.1145A>T (p.Asp382Val) | |
| 11 | g.68784929T>C | CA6152429 | CPT1A | c.1049A>G (p.Asp350Gly) c.1145A>G (p.Asp382Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784929T>G | CA381633381 | CPT1A | c.1049A>C (p.Asp350Ala) c.1145A>C (p.Asp382Ala) | |
| 11 | g.68784930C>A | CA381633382 | CPT1A | c.1048G>T (p.Asp350Tyr) c.1144G>T (p.Asp382Tyr) | |
| 11 | g.68784930C>G | CA381633383 | CPT1A | c.1048G>C (p.Asp350His) c.1144G>C (p.Asp382His) | dbSNP gnomAD v4 |
| 11 | g.68784930C>T | CA6152430 | CPT1A | c.1048G>A (p.Asp350Asn) c.1144G>A (p.Asp382Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68784931A>C | CA381633384 | CPT1A | c.1047T>G (p.His349Gln) c.1143T>G (p.His381Gln) | |
| 11 | g.68784931A>G | CA475197866 | CPT1A | c.1047T>C (p.His349=) c.1143T>C (p.His381=) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.68784931A>T | CA381633385 | CPT1A | c.1047T>A (p.His349Gln) c.1143T>A (p.His381Gln) | |
| 11 | g.68784932T>A | CA381633386 | CPT1A | c.1046A>T (p.His349Leu) c.1142A>T (p.His381Leu) | |
| 11 | g.68784932T>C | CA6152431 | CPT1A | c.1046A>G (p.His349Arg) c.1142A>G (p.His381Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784932T>G | CA381633387 | CPT1A | c.1046A>C (p.His349Pro) c.1142A>C (p.His381Pro) | |
| 11 | g.68784933G>A | CA381633388 | CPT1A | c.1045C>T (p.His349Tyr) c.1141C>T (p.His381Tyr) | |
| 11 | g.68784933G>C | CA381633389 | CPT1A | c.1045C>G (p.His349Asp) c.1141C>G (p.His381Asp) | |
| 11 | g.68784933G>T | CA381633390 | CPT1A | c.1045C>A (p.His349Asn) c.1141C>A (p.His381Asn) | |
| 11 | g.68784934G>A | CA475197879 | CPT1A | c.1044C>T (p.Tyr348=) c.1140C>T (p.Tyr380=) | |
| 11 | g.68784934G>C | CA381633392 | CPT1A | c.1044C>G (p.Tyr348Ter) c.1140C>G (p.Tyr380Ter) | |
| 11 | g.68784934G>T | CA381633391 | CPT1A | c.1044C>A (p.Tyr348Ter) c.1140C>A (p.Tyr380Ter) | |
| 11 | g.68784935T>A | CA381633393 | CPT1A | c.1043A>T (p.Tyr348Phe) c.1139A>T (p.Tyr380Phe) | |
| 11 | g.68784935T>C | CA381633395 | CPT1A | c.1043A>G (p.Tyr348Cys) c.1139A>G (p.Tyr380Cys) | |
| 11 | g.68784935T>G | CA381633394 | CPT1A | c.1043A>C (p.Tyr348Ser) c.1139A>C (p.Tyr380Ser) | |
| 11 | g.68784936A>C | CA381633396 | CPT1A | c.1042T>G (p.Tyr348Asp) c.1138T>G (p.Tyr380Asp) | |
| 11 | g.68784936A>G | CA381633397 | CPT1A | c.1042T>C (p.Tyr348His) c.1138T>C (p.Tyr380His) | |
| 11 | g.68784936A>T | CA381633398 | CPT1A | c.1042T>A (p.Tyr348Asn) c.1138T>A (p.Tyr380Asn) | dbSNP gnomAD v2 |
| 11 | g.68784937G>A | CA223375854 | CPT1A | c.1041C>T (p.Leu347=) c.1137C>T (p.Leu379=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68784937G>C | CA475197897 | CPT1A | c.1041C>G (p.Leu347=) c.1137C>G (p.Leu379=) | |
| 11 | g.68784937G>T | CA475197898 | CPT1A | c.1041C>A (p.Leu347=) c.1137C>A (p.Leu379=) | |
| 11 | g.68784938A>C | CA381633399 | CPT1A | c.1040T>G (p.Leu347Arg) c.1136T>G (p.Leu379Arg) | |
| 11 | g.68784938A>G | CA381633400 | CPT1A | c.1040T>C (p.Leu347Pro) c.1136T>C (p.Leu379Pro) | |
| 11 | g.68784938A>T | CA381633401 | CPT1A | c.1040T>A (p.Leu347His) c.1136T>A (p.Leu379His) | |
| 11 | g.68784939G>A | CA6152432 | CPT1A | c.1039C>T (p.Leu347Phe) c.1135C>T (p.Leu379Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784939G>C | CA381633404 | CPT1A | c.1039C>G (p.Leu347Val) c.1135C>G (p.Leu379Val) | |
| 11 | g.68784939G>T | CA381633402 | CPT1A | c.1039C>A (p.Leu347Ile) c.1135C>A (p.Leu379Ile) | |
| 11 | g.68784939dup | CA2739270628 | CPT1A | c.1039dup (p.Leu347ProfsTer4) c.1135dup (p.Leu379ProfsTer4) | ClinVar |
| 11 | g.68784940C>A | CA381633406 | CPT1A | c.1038G>T (p.Trp346Cys) c.1134G>T (p.Trp378Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784940C>G | CA381633407 | CPT1A | c.1038G>C (p.Trp346Cys) c.1134G>C (p.Trp378Cys) | |
| 11 | g.68784940C>T | CA381633408 | CPT1A | c.1038G>A (p.Trp346Ter) c.1134G>A (p.Trp378Ter) | |
| 11 | g.68784941C>A | CA381633409 | CPT1A | c.1037G>T (p.Trp346Leu) c.1133G>T (p.Trp378Leu) | |
| 11 | g.68784941C>G | CA381633410 | CPT1A | c.1037G>C (p.Trp346Ser) c.1133G>C (p.Trp378Ser) | |
| 11 | g.68784941C>T | CA381633411 | CPT1A | c.1037G>A (p.Trp346Ter) c.1133G>A (p.Trp378Ter) | ClinVar |
| 11 | g.68784942A>C | CA6152433 | CPT1A | c.1036T>G (p.Trp346Gly) c.1132T>G (p.Trp378Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784942A>G | CA381633413 | CPT1A | c.1036T>C (p.Trp346Arg) c.1132T>C (p.Trp378Arg) | |
| 11 | g.68784942A>T | CA381633412 | CPT1A | c.1036T>A (p.Trp346Arg) c.1132T>A (p.Trp378Arg) | |
| 11 | g.68784943G>A | CA475197918 | CPT1A | c.1035C>T (p.Val345=) c.1131C>T (p.Val377=) | |
| 11 | g.68784943G>C | CA475197917 | CPT1A | c.1035C>G (p.Val345=) c.1131C>G (p.Val377=) | |
| 11 | g.68784943G>T | CA475197916 | CPT1A | c.1035C>A (p.Val345=) c.1131C>A (p.Val377=) | |
| 11 | g.68784944A>C | CA381633414 | CPT1A | c.1034T>G (p.Val345Gly) c.1130T>G (p.Val377Gly) | |
| 11 | g.68784944A>G | CA381633415 | CPT1A | c.1034T>C (p.Val345Ala) c.1130T>C (p.Val377Ala) | |
| 11 | g.68784944A>T | CA381633416 | CPT1A | c.1034T>A (p.Val345Asp) c.1130T>A (p.Val377Asp) | |
| 11 | g.68784945C>A | CA381633417 | CPT1A | c.1033G>T (p.Val345Phe) c.1129G>T (p.Val377Phe) | gnomAD v4 |
| 11 | g.68784945C>G | CA381633418 | CPT1A | c.1033G>C (p.Val345Leu) c.1129G>C (p.Val377Leu) | |
| 11 | g.68784945C>T | CA381633419 | CPT1A | c.1033G>A (p.Val345Ile) c.1129G>A (p.Val377Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784946C>A | CA381633420 | CPT1A | c.1032G>T (p.Lys344Asn) c.1128G>T (p.Lys376Asn) | |
| 11 | g.68784946C>G | CA381633421 | CPT1A | c.1032G>C (p.Lys344Asn) c.1128G>C (p.Lys376Asn) | |
| 11 | g.68784946C>T | CA475197944 | CPT1A | c.1032G>A (p.Lys344=) c.1128G>A (p.Lys376=) | ClinVar |
| 11 | g.68784947T>A | CA381633422 | CPT1A | c.1031A>T (p.Lys344Met) c.1127A>T (p.Lys376Met) | |
| 11 | g.68784947T>C | CA6152434 | CPT1A | c.1031A>G (p.Lys344Arg) c.1127A>G (p.Lys376Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784947T>G | CA381633424 | CPT1A | c.1031A>C (p.Lys344Thr) c.1127A>C (p.Lys376Thr) | |
| 11 | g.68784948T>A | CA381633425 | CPT1A | c.1030A>T (p.Lys344Ter) c.1126A>T (p.Lys376Ter) | |
| 11 | g.68784948T>C | CA381633427 | CPT1A | c.1030A>G (p.Lys344Glu) c.1126A>G (p.Lys376Glu) | |
| 11 | g.68784948T>G | CA381633426 | CPT1A | c.1030A>C (p.Lys344Gln) c.1126A>C (p.Lys376Gln) | |
| 11 | g.68784949G>A | CA475197960 | CPT1A | c.1029C>T (p.Phe343=) c.1125C>T (p.Phe375=) | |
| 11 | g.68784949G>C | CA381633428 | CPT1A | c.1029C>G (p.Phe343Leu) c.1125C>G (p.Phe375Leu) | |
| 11 | g.68784949G>T | CA381633429 | CPT1A | c.1029C>A (p.Phe343Leu) c.1125C>A (p.Phe375Leu) | |
| 11 | g.68784950A>C | CA381633430 | CPT1A | c.1028T>G (p.Phe343Cys) c.1124T>G (p.Phe375Cys) | |
| 11 | g.68784950A>G | CA381633431 | CPT1A | c.1028T>C (p.Phe343Ser) c.1124T>C (p.Phe375Ser) | |
| 11 | g.68784950A>T | CA381633432 | CPT1A | c.1028T>A (p.Phe343Tyr) c.1124T>A (p.Phe375Tyr) | |
| 11 | g.68784951A= | CA2581028854 | CPT1A | c.1027T= (p.Phe343=) c.1123T= (p.Phe375=) | |
| 11 | g.68784951A>C | CA344958 | CPT1A | c.1027T>G (p.Phe343Val) c.1123T>G (p.Phe375Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784951A>G | CA381633433 | CPT1A | c.1027T>C (p.Phe343Leu) c.1123T>C (p.Phe375Leu) | |
| 11 | g.68784951A>T | CA381633434 | CPT1A | c.1027T>A (p.Phe343Ile) c.1123T>A (p.Phe375Ile) | |
| 11 | g.68784952del | CA2614735785 | CPT1A | c.1026del (p.Phe343SerfsTer12) c.1122del (p.Phe375SerfsTer12) | gnomAD v4 |
| 11 | g.68784952G>A | CA475197980 | CPT1A | c.1026C>T (p.Tyr342=) c.1122C>T (p.Tyr374=) | |
| 11 | g.68784952G>C | CA381633435 | CPT1A | c.1026C>G (p.Tyr342Ter) c.1122C>G (p.Tyr374Ter) | |
| 11 | g.68784952G>T | CA381633436 | CPT1A | c.1026C>A (p.Tyr342Ter) c.1122C>A (p.Tyr374Ter) | |
| 11 | g.68784953T>A | CA381633437 | CPT1A | c.1025A>T (p.Tyr342Phe) c.1121A>T (p.Tyr374Phe) | |
| 11 | g.68784953T>C | CA381633438 | CPT1A | c.1025A>G (p.Tyr342Cys) c.1121A>G (p.Tyr374Cys) | |
| 11 | g.68784953T>G | CA381633439 | CPT1A | c.1025A>C (p.Tyr342Ser) c.1121A>C (p.Tyr374Ser) | |
| 11 | g.68784954A>C | CA381633440 | CPT1A | c.1024T>G (p.Tyr342Asp) c.1120T>G (p.Tyr374Asp) | |
| 11 | g.68784954A>G | CA381633442 | CPT1A | c.1024T>C (p.Tyr342His) c.1120T>C (p.Tyr374His) | |
| 11 | g.68784954A>T | CA381633441 | CPT1A | c.1024T>A (p.Tyr342Asn) c.1120T>A (p.Tyr374Asn) | |
| 11 | g.68784955G>A | CA475198000 | CPT1A | c.1023C>T (p.Arg341=) c.1119C>T (p.Arg373=) | |
| 11 | g.68784955G>C | CA475198004 | CPT1A | c.1023C>G (p.Arg341=) c.1119C>G (p.Arg373=) | |
| 11 | g.68784955G>T | CA475198003 | CPT1A | c.1023C>A (p.Arg341=) c.1119C>A (p.Arg373=) | |
| 11 | g.68784956C>A | CA381633443 | CPT1A | c.1022G>T (p.Arg341Leu) c.1118G>T (p.Arg373Leu) | gnomAD v4 |
| 11 | g.68784956C>G | CA381633445 | CPT1A | c.1022G>C (p.Arg341Pro) c.1118G>C (p.Arg373Pro) | |
| 11 | g.68784956C>T | CA6152435 | CPT1A | c.1022G>A (p.Arg341His) c.1118G>A (p.Arg373His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68784957G>A | CA6152436 | CPT1A | c.1021C>T (p.Arg341Cys) c.1117C>T (p.Arg373Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784957G>C | CA381633447 | CPT1A | c.1021C>G (p.Arg341Gly) c.1117C>G (p.Arg373Gly) | |
| 11 | g.68784957G>T | CA381633453 | CPT1A | c.1021C>A (p.Arg341Ser) c.1117C>A (p.Arg373Ser) | |
| 11 | g.68784958T>A | CA475198016 | CPT1A | c.1020A>T (p.Gly340=) c.1116A>T (p.Gly372=) | |
| 11 | g.68784958T>C | CA223375882 | CPT1A | c.1020A>G (p.Gly340=) c.1116A>G (p.Gly372=) | dbSNP |
| 11 | g.68784958T>G | CA475198023 | CPT1A | c.1020A>C (p.Gly340=) c.1116A>C (p.Gly372=) | |
| 11 | g.68784959C>A | CA381633455 | CPT1A | c.1019G>T (p.Gly340Val) c.1115G>T (p.Gly372Val) | |
| 11 | g.68784959C>G | CA381633458 | CPT1A | c.1019G>C (p.Gly340Ala) c.1115G>C (p.Gly372Ala) | |
| 11 | g.68784959C>T | CA381633459 | CPT1A | c.1019G>A (p.Gly340Glu) c.1115G>A (p.Gly372Glu) | dbSNP |
| 11 | g.68784960C>A | CA381633463 | CPT1A | c.1018G>T (p.Gly340Ter) c.1114G>T (p.Gly372Ter) | ClinVar |
| 11 | g.68784960C>G | CA381633461 | CPT1A | c.1018G>C (p.Gly340Arg) c.1114G>C (p.Gly372Arg) | |
| 11 | g.68784960C>T | CA381633460 | CPT1A | c.1018G>A (p.Gly340Arg) c.1114G>A (p.Gly372Arg) | ClinVar dbSNP |
| 11 | g.68784961T>A | CA475198036 | CPT1A | c.1017A>T (p.Arg339=) c.1113A>T (p.Arg371=) | |
| 11 | g.68784961T>C | CA475198038 | CPT1A | c.1017A>G (p.Arg339=) c.1113A>G (p.Arg371=) | |
| 11 | g.68784961T>G | CA475198040 | CPT1A | c.1017A>C (p.Arg339=) c.1113A>C (p.Arg371=) | |
| 11 | g.68784961_68784963del | CA2614735787 | CPT1A | c.1015_1017del (p.Arg339del) c.1111_1113del (p.Arg371del) | gnomAD v4 |
| 11 | g.68784962C>A | CA381633464 | CPT1A | c.1016G>T (p.Arg339Leu) c.1112G>T (p.Arg371Leu) | |
| 11 | g.68784962C>G | CA381633467 | CPT1A | c.1016G>C (p.Arg339Pro) c.1112G>C (p.Arg371Pro) | |
| 11 | g.68784962C>T | CA6152437 | CPT1A | c.1016G>A (p.Arg339Gln) c.1112G>A (p.Arg371Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784963G>A | CA381633469 | CPT1A | c.1015C>T (p.Arg339Ter) c.1111C>T (p.Arg371Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68784963G>C | CA381633471 | CPT1A | c.1015C>G (p.Arg339Gly) c.1111C>G (p.Arg371Gly) | gnomAD v4 |
| 11 | g.68784963G>T | CA475198049 | CPT1A | c.1015C>A (p.Arg339=) c.1111C>A (p.Arg371=) | |
| 11 | g.68784964A>C | CA381633473 | CPT1A | c.1014T>G (p.His338Gln) c.1110T>G (p.His370Gln) | |
| 11 | g.68784964A>G | CA475198050 | CPT1A | c.1014T>C (p.His338=) c.1110T>C (p.His370=) | |
| 11 | g.68784964A>T | CA381633475 | CPT1A | c.1014T>A (p.His338Gln) c.1110T>A (p.His370Gln) | |
| 11 | g.68784965T>A | CA381633476 | CPT1A | c.1013A>T (p.His338Leu) c.1109A>T (p.His370Leu) | |
| 11 | g.68784965T>C | CA381633477 | CPT1A | c.1013A>G (p.His338Arg) c.1109A>G (p.His370Arg) | gnomAD v4 |
| 11 | g.68784965T>G | CA381633479 | CPT1A | c.1013A>C (p.His338Pro) c.1109A>C (p.His370Pro) | |
| 11 | g.68784966G>A | CA223375888 | CPT1A | c.1012C>T (p.His338Tyr) c.1108C>T (p.His370Tyr) | dbSNP gnomAD v4 |
| 11 | g.68784966G>C | CA381633483 | CPT1A | c.1012C>G (p.His338Asp) c.1108C>G (p.His370Asp) | |
| 11 | g.68784966G>T | CA381633485 | CPT1A | c.1012C>A (p.His338Asn) c.1108C>A (p.His370Asn) | COSMIC COSMIC |
| 11 | g.68784967G>A | CA475198065 | CPT1A | c.1011C>T (p.Tyr337=) c.1107C>T (p.Tyr369=) | |
| 11 | g.68784967G>C | CA381633487 | CPT1A | c.1011C>G (p.Tyr337Ter) c.1107C>G (p.Tyr369Ter) | |
| 11 | g.68784967G>T | CA381633488 | CPT1A | c.1011C>A (p.Tyr337Ter) c.1107C>A (p.Tyr369Ter) | ClinVar |
| 11 | g.68784968T>A | CA381633490 | CPT1A | c.1010A>T (p.Tyr337Phe) c.1106A>T (p.Tyr369Phe) | |
| 11 | g.68784968T>C | CA381633495 | CPT1A | c.1010A>G (p.Tyr337Cys) c.1106A>G (p.Tyr369Cys) | |
| 11 | g.68784968T>G | CA381633492 | CPT1A | c.1010A>C (p.Tyr337Ser) c.1106A>C (p.Tyr369Ser) | |
| 11 | g.68784969A>C | CA381633497 | CPT1A | c.1009T>G (p.Tyr337Asp) c.1105T>G (p.Tyr369Asp) | |
| 11 | g.68784969A>G | CA381633503 | CPT1A | c.1009T>C (p.Tyr337His) c.1105T>C (p.Tyr369His) | |
| 11 | g.68784969A>T | CA381633505 | CPT1A | c.1009T>A (p.Tyr337Asn) c.1105T>A (p.Tyr369Asn) | |
| 11 | g.68784970C>A | CA475198078 | CPT1A | c.1008G>T (p.Val336=) c.1104G>T (p.Val368=) | |
| 11 | g.68784970C>G | CA475198080 | CPT1A | c.1008G>C (p.Val336=) c.1104G>C (p.Val368=) | |
| 11 | g.68784970C>T | CA475198086 | CPT1A | c.1008G>A (p.Val336=) c.1104G>A (p.Val368=) | gnomAD v4 |
| 11 | g.68784971A>C | CA381633507 | CPT1A | c.1007T>G (p.Val336Gly) c.1103T>G (p.Val368Gly) | |
| 11 | g.68784971A>G | CA381633509 | CPT1A | c.1007T>C (p.Val336Ala) c.1103T>C (p.Val368Ala) | |
| 11 | g.68784971A>T | CA381633516 | CPT1A | c.1007T>A (p.Val336Glu) c.1103T>A (p.Val368Glu) | |
| 11 | g.68784972del | CA939177356 | CPT1A | c.1006del (p.Val336CysfsTer19) c.1102del (p.Val368CysfsTer19) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68784972C>A | CA381633518 | CPT1A | c.1006G>T (p.Val336Leu) c.1102G>T (p.Val368Leu) | |
| 11 | g.68784972C>G | CA381633520 | CPT1A | c.1006G>C (p.Val336Leu) c.1102G>C (p.Val368Leu) | |
| 11 | g.68784972C>T | CA381633522 | CPT1A | c.1006G>A (p.Val336Met) c.1102G>A (p.Val368Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784973G>A | CA6152438 | CPT1A | c.1005C>T (p.Val335=) c.1101C>T (p.Val367=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784973G>C | CA475198111 | CPT1A | c.1005C>G (p.Val335=) c.1101C>G (p.Val367=) | |
| 11 | g.68784973G>T | CA475198116 | CPT1A | c.1005C>A (p.Val335=) c.1101C>A (p.Val367=) | |
| 11 | g.68784974A>C | CA381633529 | CPT1A | c.1004T>G (p.Val335Gly) c.1100T>G (p.Val367Gly) | |
| 11 | g.68784974A>G | CA381633531 | CPT1A | c.1004T>C (p.Val335Ala) c.1100T>C (p.Val367Ala) | |
| 11 | g.68784974A>T | CA381633528 | CPT1A | c.1004T>A (p.Val335Asp) c.1100T>A (p.Val367Asp) | |
| 11 | g.68784975C>A | CA381633534 | CPT1A | c.1003G>T (p.Val335Phe) c.1099G>T (p.Val367Phe) | |
| 11 | g.68784975C>G | CA381633536 | CPT1A | c.1003G>C (p.Val335Leu) c.1099G>C (p.Val367Leu) | |
| 11 | g.68784975C>T | CA6152439 | CPT1A | c.1003G>A (p.Val335Ile) c.1099G>A (p.Val367Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68784975_68784976insA | CA891862769 | CPT1A | c.1002_1003insT (p.Val335CysfsTer16) c.1098_1099insT (p.Val367CysfsTer16) | ClinVar dbSNP |
| 11 | g.68784976G>A | CA6152441 | CPT1A | c.1002C>T (p.Ile334=) c.1098C>T (p.Ile366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784976G>C | CA6152440 | CPT1A | c.1002C>G (p.Ile334Met) c.1098C>G (p.Ile366Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784976G>T | CA475198132 | CPT1A | c.1002C>A (p.Ile334=) c.1098C>A (p.Ile366=) | gnomAD v4 |
| 11 | g.68784977A>C | CA381633544 | CPT1A | c.1001T>G (p.Ile334Ser) c.1097T>G (p.Ile366Ser) | |
| 11 | g.68784977A>G | CA381633546 | CPT1A | c.1001T>C (p.Ile334Thr) c.1097T>C (p.Ile366Thr) | |
| 11 | g.68784977A>T | CA381633547 | CPT1A | c.1001T>A (p.Ile334Asn) c.1097T>A (p.Ile366Asn) | |
| 11 | g.68784978T>A | CA381633549 | CPT1A | c.1000A>T (p.Ile334Phe) c.1096A>T (p.Ile366Phe) | gnomAD v4 |
| 11 | g.68784978T>C | CA381633551 | CPT1A | c.1000A>G (p.Ile334Val) c.1096A>G (p.Ile366Val) | dbSNP |
| 11 | g.68784978T>G | CA381633552 | CPT1A | c.1000A>C (p.Ile334Leu) c.1096A>C (p.Ile366Leu) | |
| 11 | g.68784979G>A | CA475198144 | CPT1A | c.999C>T (p.His333=) c.1095C>T (p.His365=) | gnomAD v4 |
| 11 | g.68784979G>C | CA381633554 | CPT1A | c.999C>G (p.His333Gln) c.1095C>G (p.His365Gln) | |
| 11 | g.68784979G>T | CA381633556 | CPT1A | c.999C>A (p.His333Gln) c.1095C>A (p.His365Gln) | |
| 11 | g.68784980del | CA599989698 | CPT1A | c.998del (p.His333ProfsTer22) c.1094del (p.His365ProfsTer22) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784980T>A | CA381633562 | CPT1A | c.998A>T (p.His333Leu) c.1094A>T (p.His365Leu) | |
| 11 | g.68784980T>C | CA381633561 | CPT1A | c.998A>G (p.His333Arg) c.1094A>G (p.His365Arg) | |
| 11 | g.68784980T>G | CA381633559 | CPT1A | c.998A>C (p.His333Pro) c.1094A>C (p.His365Pro) | |
| 11 | g.68784981G>A | CA381633564 | CPT1A | c.997C>T (p.His333Tyr) c.1093C>T (p.His365Tyr) | |
| 11 | g.68784981G>C | CA381633567 | CPT1A | c.997C>G (p.His333Asp) c.1093C>G (p.His365Asp) | |
| 11 | g.68784981G>T | CA381633569 | CPT1A | c.997C>A (p.His333Asn) c.1093C>A (p.His365Asn) | |
| 11 | g.68784982C>A | CA381633571 | CPT1A | c.996G>T (p.Lys332Asn) c.1092G>T (p.Lys364Asn) | |
| 11 | g.68784982C>G | CA381633573 | CPT1A | c.996G>C (p.Lys332Asn) c.1092G>C (p.Lys364Asn) | |
| 11 | g.68784982C>T | CA475198153 | CPT1A | c.996G>A (p.Lys332=) c.1092G>A (p.Lys364=) | |
| 11 | g.68784983T>A | CA381633575 | CPT1A | c.995A>T (p.Lys332Met) c.1091A>T (p.Lys364Met) | |
| 11 | g.68784983T>C | CA381633577 | CPT1A | c.995A>G (p.Lys332Arg) c.1091A>G (p.Lys364Arg) | |
| 11 | g.68784983T>G | CA6152442 | CPT1A | c.995A>C (p.Lys332Thr) c.1091A>C (p.Lys364Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784984T>A | CA381633579 | CPT1A | c.994A>T (p.Lys332Ter) c.1090A>T (p.Lys364Ter) | |
| 11 | g.68784984T>C | CA381633581 | CPT1A | c.994A>G (p.Lys332Glu) c.1090A>G (p.Lys364Glu) | |
| 11 | g.68784984T>G | CA381633583 | CPT1A | c.994A>C (p.Lys332Gln) c.1090A>C (p.Lys364Gln) | |
| 11 | g.68784985G>A | CA475198178 | CPT1A | c.993C>T (p.Ser331=) c.1089C>T (p.Ser363=) | |
| 11 | g.68784985G>C | CA381633586 | CPT1A | c.993C>G (p.Ser331Arg) c.1089C>G (p.Ser363Arg) | |
| 11 | g.68784985G>T | CA381633588 | CPT1A | c.993C>A (p.Ser331Arg) c.1089C>A (p.Ser363Arg) | |
| 11 | g.68784986C>A | CA381633589 | CPT1A | c.992G>T (p.Ser331Ile) c.1088G>T (p.Ser363Ile) | |
| 11 | g.68784986C>G | CA381633592 | CPT1A | c.992G>C (p.Ser331Thr) c.1088G>C (p.Ser363Thr) | |
| 11 | g.68784986C>T | CA381633590 | CPT1A | c.992G>A (p.Ser331Asn) c.1088G>A (p.Ser363Asn) | gnomAD v4 |
| 11 | g.68784987T>A | CA381633594 | CPT1A | c.991A>T (p.Ser331Cys) c.1087A>T (p.Ser363Cys) | |
| 11 | g.68784987T>C | CA381633601 | CPT1A | c.991A>G (p.Ser331Gly) c.1087A>G (p.Ser363Gly) | ClinVar gnomAD v4 |
| 11 | g.68784987T>G | CA381633599 | CPT1A | c.991A>C (p.Ser331Arg) c.1087A>C (p.Ser363Arg) | |
| 11 | g.68784988G>A | CA6152443 | CPT1A | c.990C>T (p.Asp330=) c.1086C>T (p.Asp362=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784988G>C | CA381633605 | CPT1A | c.990C>G (p.Asp330Glu) c.1086C>G (p.Asp362Glu) | |
| 11 | g.68784988G>T | CA381633603 | CPT1A | c.990C>A (p.Asp330Glu) c.1086C>A (p.Asp362Glu) | |
| 11 | g.68784989T>A | CA381633607 | CPT1A | c.989A>T (p.Asp330Val) c.1085A>T (p.Asp362Val) | |
| 11 | g.68784989T>C | CA381633611 | CPT1A | c.989A>G (p.Asp330Gly) c.1085A>G (p.Asp362Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784989T>G | CA381633609 | CPT1A | c.989A>C (p.Asp330Ala) c.1085A>C (p.Asp362Ala) |