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