| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |