ClinVar Miner

List of variants studied for Carnitine palmitoyl transferase 1A deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 837
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.556-16C>T rs3019603 0.94412
NM_001876.4(CPT1A):c.1251T>C (p.Phe417=) rs2228502 0.92020
NM_001876.4(CPT1A):c.963G>A (p.Glu321=) rs2229737 0.08543
NM_001876.4(CPT1A):c.968-8C>T rs2305507 0.08414
NM_001876.4(CPT1A):c.1251= (p.Phe417=) rs2228502 0.07980
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_001876.4(CPT1A):c.240G>A (p.Ser80=) rs61731904 0.02145
NM_001876.4(CPT1A):c.967+3G>A rs75677837 0.01623
NM_001876.4(CPT1A):c.556-19T>G rs117610994 0.00984
NM_001876.4(CPT1A):c.1941C>G (p.Ala647=) rs115731492 0.00879
NM_001876.4(CPT1A):c.2004T>C (p.Ala668=) rs2228503 0.00879
NM_001876.4(CPT1A):c.1908G>A (p.Ala636=) rs111407620 0.00743
NM_001876.4(CPT1A):c.1529C>T (p.Pro510Leu) rs61731906 0.00724
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) rs140958507 0.00501
NM_001876.4(CPT1A):c.556-16_556-15insT rs539173750 0.00414
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met) rs61731903 0.00262
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) rs151271754 0.00205
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln) rs77477448 0.00093
NM_001876.4(CPT1A):c.2142G>A (p.Pro714=) rs150792109 0.00081
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys) rs114030714 0.00081
NM_001876.4(CPT1A):c.453+9G>A rs183694834 0.00070
NM_001876.4(CPT1A):c.142-17C>G rs201203984 0.00056
NM_001876.4(CPT1A):c.2142+8C>T rs147563740 0.00054
NM_001876.4(CPT1A):c.2100G>A (p.Glu700=) rs188173541 0.00053
NM_001876.4(CPT1A):c.144C>T (p.Asn48=) rs182451427 0.00043
NM_001876.4(CPT1A):c.2260C>T (p.Leu754=) rs144781827 0.00041
NM_001876.4(CPT1A):c.336C>T (p.Thr112=) rs61731902 0.00039
NM_001876.4(CPT1A):c.1557G>A (p.Gln519=) rs149983153 0.00037
NM_001876.4(CPT1A):c.1983C>T (p.Tyr661=) rs374136875 0.00036
NM_001876.4(CPT1A):c.930G>C (p.Arg310=) rs147373480 0.00036
NM_001876.4(CPT1A):c.492G>A (p.Leu164=) rs200836324 0.00034
NM_001876.4(CPT1A):c.2013C>T (p.Ser671=) rs755323437 0.00033
NM_001876.4(CPT1A):c.1876G>C (p.Val626Leu) rs41302429 0.00029
NM_001876.4(CPT1A):c.142-16G>A rs201717907 0.00027
NM_001876.4(CPT1A):c.693+7C>T rs370181471 0.00026
NM_001876.4(CPT1A):c.171A>G (p.Ala57=) rs758539295 0.00024
NM_001876.4(CPT1A):c.2173A>G (p.Ile725Val) rs773269662 0.00024
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) rs189174414 0.00020
NM_001876.4(CPT1A):c.1702G>T (p.Ala568Ser) rs1046804 0.00020
NM_001876.4(CPT1A):c.669A>G (p.Leu223=) rs373563983 0.00019
NM_001876.4(CPT1A):c.851G>A (p.Arg284His) rs144866081 0.00017
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=) rs61731905 0.00016
NM_001876.4(CPT1A):c.337G>A (p.Gly113Ser) rs555444012 0.00016
NM_001876.4(CPT1A):c.357C>T (p.Ile119=) rs138011726 0.00015
NM_001876.4(CPT1A):c.147C>G (p.Gly49=) rs138011017 0.00011
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=) rs202208941 0.00011
NM_001876.4(CPT1A):c.717C>T (p.Tyr239=) rs142954613 0.00011
NM_001876.4(CPT1A):c.1092G>A (p.Gln364=) rs199640034 0.00010
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln) rs757593086 0.00010
NM_001876.4(CPT1A):c.1569G>A (p.Pro523=) rs754717309 0.00010
NM_001876.4(CPT1A):c.192C>T (p.Ile64=) rs142691028 0.00010
NM_001876.4(CPT1A):c.390C>T (p.Leu130=) rs188016546 0.00010
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe) rs150459546 0.00009
NM_001876.4(CPT1A):c.1959C>T (p.Ile653=) rs556392764 0.00009
NM_001876.4(CPT1A):c.2028+7C>G rs768465007 0.00009
NM_001876.4(CPT1A):c.2154C>T (p.Asp718=) rs141868515 0.00007
NM_001876.4(CPT1A):c.525G>A (p.Pro175=) rs371805329 0.00007
NM_001876.4(CPT1A):c.694-10C>T rs201198921 0.00007
NM_001876.4(CPT1A):c.1083G>A (p.Gln361=) rs761229343 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val) rs753866589 0.00006
NM_001876.4(CPT1A):c.1539G>A (p.Pro513=) rs371923903 0.00006
NM_001876.4(CPT1A):c.1845C>T (p.Phe615=) rs144747588 0.00006
NM_001876.4(CPT1A):c.1850G>A (p.Arg617Gln) rs375224809 0.00006
NM_001876.4(CPT1A):c.2178T>C (p.Leu726=) rs200501379 0.00006
NM_001876.4(CPT1A):c.2244T>C (p.His748=) rs746766870 0.00006
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu) rs201425412 0.00006
NM_001876.4(CPT1A):c.1163+1G>A rs148059333 0.00005
NM_001876.4(CPT1A):c.1392C>T (p.Asn464=) rs138700687 0.00005
NM_001876.4(CPT1A):c.1731G>A (p.Ala577=) rs140468410 0.00005
NM_001876.4(CPT1A):c.2142+9G>A rs753764564 0.00005
NM_001876.4(CPT1A):c.327G>A (p.Leu109=) rs1047202617 0.00005
NM_001876.4(CPT1A):c.434G>A (p.Arg145His) rs373015421 0.00005
NM_001876.4(CPT1A):c.633C>T (p.Val211=) rs775908039 0.00005
NM_001876.4(CPT1A):c.1003G>A (p.Val335Ile) rs112620511 0.00004
NM_001876.4(CPT1A):c.1302G>A (p.Thr434=) rs1424284180 0.00004
NM_001876.4(CPT1A):c.1353-4G>A rs577271875 0.00004
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser) rs552007692 0.00004
NM_001876.4(CPT1A):c.1576-11T>G rs778920950 0.00004
NM_001876.4(CPT1A):c.1644C>T (p.Ser548=) rs775058970 0.00004
NM_001876.4(CPT1A):c.1874C>T (p.Thr625Met) rs142473901 0.00004
NM_001876.4(CPT1A):c.2115C>T (p.Tyr705=) rs149454771 0.00004
NM_001876.4(CPT1A):c.2235+4T>C rs755308448 0.00004
NM_001876.4(CPT1A):c.2243A>T (p.His748Leu) rs900349852 0.00004
NM_001876.4(CPT1A):c.466A>G (p.Ile156Val) rs201398937 0.00004
NM_001876.4(CPT1A):c.517C>T (p.Arg173Cys) rs774388890 0.00004
NM_001876.4(CPT1A):c.753C>T (p.Asn251=) rs765615450 0.00004
NM_001876.4(CPT1A):c.772-10C>T rs368790901 0.00004
NM_001876.4(CPT1A):c.772-8C>T rs376651947 0.00004
NM_001876.4(CPT1A):c.929G>A (p.Arg310Gln) rs536671702 0.00004
NM_001876.4(CPT1A):c.1055G>A (p.Arg352Gln) rs374383052 0.00003
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu) rs376430455 0.00003
NM_001876.4(CPT1A):c.1152C>T (p.Thr384=) rs765003303 0.00003
NM_001876.4(CPT1A):c.1352+14C>A rs777403181 0.00003
NM_001876.4(CPT1A):c.1353-15G>A rs17848451 0.00003
NM_001876.4(CPT1A):c.1437G>A (p.Pro479=) rs554525176 0.00003
NM_001876.4(CPT1A):c.1440C>T (p.Ile480=) rs746623711 0.00003
NM_001876.4(CPT1A):c.1461C>T (p.Tyr487=) rs757568196 0.00003
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=) rs573112017 0.00003
NM_001876.4(CPT1A):c.454-7T>C rs780429219 0.00003
NM_001876.4(CPT1A):c.518G>A (p.Arg173His) rs199589844 0.00003
NM_001876.4(CPT1A):c.601C>T (p.Arg201Trp) rs373344573 0.00003
NM_001876.4(CPT1A):c.642A>G (p.Gly214=) rs377534215 0.00003
NM_001876.4(CPT1A):c.694-5A>G rs533087846 0.00003
NM_001876.4(CPT1A):c.741G>A (p.Pro247=) rs1034760579 0.00003
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly) rs80356796 0.00003
NM_001876.4(CPT1A):c.123G>A (p.Lys41=) rs1246674324 0.00002
NM_001876.4(CPT1A):c.1245G>A (p.Ala415=) rs750166396 0.00002
NM_001876.4(CPT1A):c.1257G>A (p.Thr419=) rs764443409 0.00002
NM_001876.4(CPT1A):c.1317C>T (p.Tyr439=) rs140332936 0.00002
NM_001876.4(CPT1A):c.1335C>T (p.His445=) rs768418242 0.00002
NM_001876.4(CPT1A):c.1352+6G>A rs541440067 0.00002
NM_001876.4(CPT1A):c.1386del (p.Phe462fs) rs753776604 0.00002
NM_001876.4(CPT1A):c.1410C>T (p.Asn470=) rs762915863 0.00002
NM_001876.4(CPT1A):c.1434G>A (p.Ala478=) rs572938737 0.00002
NM_001876.4(CPT1A):c.1530G>A (p.Pro510=) rs141303589 0.00002
NM_001876.4(CPT1A):c.1563C>T (p.Asp521=) rs757551678 0.00002
NM_001876.4(CPT1A):c.1575+8C>T rs372364901 0.00002
NM_001876.4(CPT1A):c.1650A>G (p.Pro550=) rs771639556 0.00002
NM_001876.4(CPT1A):c.1719C>T (p.Ala573=) rs377681307 0.00002
NM_001876.4(CPT1A):c.1728G>A (p.Leu576=) rs751342542 0.00002
NM_001876.4(CPT1A):c.1741-15C>T rs754694654 0.00002
NM_001876.4(CPT1A):c.1788C>T (p.Leu596=) rs962860616 0.00002
NM_001876.4(CPT1A):c.1813G>A (p.Val605Met) rs747835344 0.00002
NM_001876.4(CPT1A):c.1840G>A (p.Asp614Asn) rs200893871 0.00002
NM_001876.4(CPT1A):c.1848G>A (p.Val616=) rs764482477 0.00002
NM_001876.4(CPT1A):c.1851G>A (p.Arg617=) rs775639278 0.00002
NM_001876.4(CPT1A):c.1903T>C (p.Leu635=) rs372215145 0.00002
NM_001876.4(CPT1A):c.303G>A (p.Thr101=) rs553777167 0.00002
NM_001876.4(CPT1A):c.318C>T (p.Ser106=) rs761199292 0.00002
NM_001876.4(CPT1A):c.388C>T (p.Leu130Phe) rs1212436657 0.00002
NM_001876.4(CPT1A):c.420C>T (p.His140=) rs762136749 0.00002
NM_001876.4(CPT1A):c.432T>C (p.Ser144=) rs751979703 0.00002
NM_001876.4(CPT1A):c.51C>T (p.Asp17=) rs750719349 0.00002
NM_001876.4(CPT1A):c.524C>T (p.Pro175Leu) rs561244283 0.00002
NM_001876.4(CPT1A):c.52G>A (p.Gly18Arg) rs767491846 0.00002
NM_001876.4(CPT1A):c.634G>A (p.Gly212Ser) rs141191480 0.00002
NM_001876.4(CPT1A):c.772-9G>A rs936271013 0.00002
NM_001876.4(CPT1A):c.900G>T (p.Thr300=) rs1273814063 0.00002
NM_001876.4(CPT1A):c.915C>T (p.Ser305=) rs763082846 0.00002
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val) rs80356783 0.00001
NM_001876.4(CPT1A):c.105A>G (p.Gly35=) rs1566377603 0.00001
NM_001876.4(CPT1A):c.1069C>T (p.Arg357Trp) rs80356777 0.00001
NM_001876.4(CPT1A):c.1110C>T (p.Thr370=) rs768865335 0.00001
NM_001876.4(CPT1A):c.1113G>A (p.Ser371=) rs756237590 0.00001
NM_001876.4(CPT1A):c.116G>C (p.Trp39Ser) rs766209790 0.00001
NM_001876.4(CPT1A):c.1199G>C (p.Gly400Ala) rs889632692 0.00001
NM_001876.4(CPT1A):c.1244C>T (p.Ala415Val) rs528019785 0.00001
NM_001876.4(CPT1A):c.1320C>T (p.Ala440=) rs773343849 0.00001
NM_001876.4(CPT1A):c.1347C>T (p.Tyr449=) rs769751060 0.00001
NM_001876.4(CPT1A):c.1348G>A (p.Asp450Asn) rs745680805 0.00001
NM_001876.4(CPT1A):c.1353-17_1353-16del rs757335881 0.00001
NM_001876.4(CPT1A):c.1353-5C>T rs770478804 0.00001
NM_001876.4(CPT1A):c.1368G>A (p.Ser456=) rs563338783 0.00001
NM_001876.4(CPT1A):c.1374G>A (p.Thr458=) rs766448516 0.00001
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg) rs80356784 0.00001
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln) rs1165511243 0.00001
NM_001876.4(CPT1A):c.1465A>G (p.Met489Val) rs1027117038 0.00001
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=) rs760474415 0.00001
NM_001876.4(CPT1A):c.1575+9G>A rs767365466 0.00001
NM_001876.4(CPT1A):c.1608C>T (p.Thr536=) rs756997593 0.00001
NM_001876.4(CPT1A):c.1654G>A (p.Val552Ile) rs764692013 0.00001
NM_001876.4(CPT1A):c.167C>T (p.Pro56Leu) rs1249954316 0.00001
NM_001876.4(CPT1A):c.1686T>C (p.Cys562=) rs771593510 0.00001
NM_001876.4(CPT1A):c.1692G>A (p.Thr564=) rs1159341156 0.00001
NM_001876.4(CPT1A):c.1720C>T (p.Leu574Phe) rs1484699196 0.00001
NM_001876.4(CPT1A):c.1741-4C>G rs1249777003 0.00001
NM_001876.4(CPT1A):c.1767C>T (p.Tyr589=) rs762044597 0.00001
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter) rs773153659 0.00001
NM_001876.4(CPT1A):c.1806G>A (p.Thr602=) rs866075317 0.00001
NM_001876.4(CPT1A):c.1812C>T (p.Thr604=) rs772047118 0.00001
NM_001876.4(CPT1A):c.1854C>A (p.Ala618=) rs1380885875 0.00001
NM_001876.4(CPT1A):c.1865C>T (p.Pro622Leu) rs776782808 0.00001
NM_001876.4(CPT1A):c.1866G>A (p.Pro622=) rs771886992 0.00001
NM_001876.4(CPT1A):c.1877T>C (p.Val626Ala) rs768746064 0.00001
NM_001876.4(CPT1A):c.1933C>T (p.Arg645Cys) rs367840385 0.00001
NM_001876.4(CPT1A):c.1946C>T (p.Thr649Ile) rs1369067061 0.00001
NM_001876.4(CPT1A):c.1947C>T (p.Thr649=) rs766536084 0.00001
NM_001876.4(CPT1A):c.1948G>A (p.Gly650Ser) rs760769734 0.00001
NM_001876.4(CPT1A):c.2001C>T (p.Leu667=) rs370172029 0.00001
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780 0.00001
NM_001876.4(CPT1A):c.2142+11C>T rs1192871538 0.00001
NM_001876.4(CPT1A):c.2169G>A (p.Ser723=) rs761120296 0.00001
NM_001876.4(CPT1A):c.216G>A (p.Thr72=) rs759964195 0.00001
NM_001876.4(CPT1A):c.222C>T (p.Tyr74=) rs398123654 0.00001
NM_001876.4(CPT1A):c.2259C>T (p.His753=) rs752442128 0.00001
NM_001876.4(CPT1A):c.2283C>T (p.Ile761=) rs761306389 0.00001
NM_001876.4(CPT1A):c.231C>T (p.Ile77=) rs1856241635 0.00001
NM_001876.4(CPT1A):c.247A>G (p.Ile83Val) rs748174436 0.00001
NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser) rs781040444 0.00001
NM_001876.4(CPT1A):c.265C>T (p.Arg89Trp) rs574346392 0.00001
NM_001876.4(CPT1A):c.281+1G>A rs191107774 0.00001
NM_001876.4(CPT1A):c.292T>A (p.Ser98Thr) rs201446439 0.00001
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn) rs766819782 0.00001
NM_001876.4(CPT1A):c.319G>A (p.Gly107Ser) rs773497434 0.00001
NM_001876.4(CPT1A):c.399C>T (p.His133=) rs753243767 0.00001
NM_001876.4(CPT1A):c.440C>T (p.Thr147Ile) rs760683406 0.00001
NM_001876.4(CPT1A):c.477C>A (p.Gly159=) rs895684720 0.00001
NM_001876.4(CPT1A):c.495C>T (p.Tyr165=) rs139789100 0.00001
NM_001876.4(CPT1A):c.504G>A (p.Gln168=) rs755282175 0.00001
NM_001876.4(CPT1A):c.510G>A (p.Ser170=) rs766492086 0.00001
NM_001876.4(CPT1A):c.519C>A (p.Arg173=) rs1462501450 0.00001
NM_001876.4(CPT1A):c.56T>C (p.Ile19Thr) rs1306340710 0.00001
NM_001876.4(CPT1A):c.588A>G (p.Glu196=) rs772625735 0.00001
NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter) rs1211665230 0.00001
NM_001876.4(CPT1A):c.675C>T (p.Ser225=) rs866295650 0.00001
NM_001876.4(CPT1A):c.694-9G>A rs771162679 0.00001
NM_001876.4(CPT1A):c.699C>T (p.Ser233=) rs777831837 0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter) rs779893091 0.00001
NM_001876.4(CPT1A):c.744C>T (p.Leu248=) rs763514947 0.00001
NM_001876.4(CPT1A):c.771+16C>T rs1323194775 0.00001
NM_001876.4(CPT1A):c.771+18G>T rs1016553533 0.00001
NM_001876.4(CPT1A):c.789T>C (p.Leu263=) rs1273057192 0.00001
NM_001876.4(CPT1A):c.816C>T (p.Ala272=) rs368042078 0.00001
NM_001876.4(CPT1A):c.822C>T (p.Asn274=) rs774440104 0.00001
NM_001876.4(CPT1A):c.847A>C (p.Arg283=) rs1173914550 0.00001
NM_001876.4(CPT1A):c.883C>T (p.Arg295Cys) rs780487379 0.00001
NM_001876.4(CPT1A):c.912C>T (p.Cys304=) rs80356789 0.00001
NM_001876.4(CPT1A):c.945C>G (p.Ser315=) rs1013648059 0.00001
NM_001876.4(CPT1A):c.967+11C>G rs201996551 0.00001
NM_001876.4(CPT1A):c.968-11G>A rs755131342 0.00001
NM_001876.4(CPT1A):c.968-4T>C rs1186244631 0.00001
NM_001876.4(CPT1A):c.990C>T (p.Asp330=) rs762563555 0.00001
NC_000011.9:g.(?_68525112)_(68530249_?)del
NC_000011.9:g.(?_68525112)_(68549447_?)del
NC_000011.9:g.(?_68525112)_(68582942_?)del
NC_000011.9:g.(?_68527017)_(68527826_?)del
NC_000011.9:g.(?_68540723)_(68549437_?)dup
NC_000011.9:g.(?_68548098)_(68548223_?)del
NC_000011.9:g.(?_68548098)_(68552488_?)dup
NC_000011.9:g.(?_68552263)_(68571589_?)dup
NC_000011.9:g.(?_68560773)_(68562389_?)del
NC_000011.9:g.(?_68560773)_(68564411_?)dup
NC_000011.9:g.(?_68564314)_(68564411_?)del
NC_000011.9:g.(?_68571448)_(68575126_?)del
NC_000011.9:g.(?_68571458)_(68582952_?)del
NC_000011.9:g.(?_68579885)_(68582942_?)del
NC_000011.9:g.(?_68579885)_(68582942_?)dup
NC_000011.9:g.(?_68582782)_(68582942_?)del
NC_000011.9:g.(?_68582782)_(68582962_?)dup
NM_001876.4(CPT1A):c.1002C>T (p.Ile334=) rs150511642
NM_001876.4(CPT1A):c.1005C>T (p.Val335=)
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) rs398123653
NM_001876.4(CPT1A):c.1015C>T (p.Arg339Ter) rs1435045544
NM_001876.4(CPT1A):c.101C>T (p.Ser34Phe) rs1856355607
NM_001876.4(CPT1A):c.1032G>A (p.Lys344=)
NM_001876.4(CPT1A):c.1033G>A (p.Val345Ile)
NM_001876.4(CPT1A):c.1039dup (p.Leu347fs)
NM_001876.4(CPT1A):c.1041C>T (p.Leu347=) rs907655340
NM_001876.4(CPT1A):c.1046A>G (p.His349Arg)
NM_001876.4(CPT1A):c.1047T>C (p.His349=) rs2153998399
NM_001876.4(CPT1A):c.1050T>C (p.Asp350=)
NM_001876.4(CPT1A):c.1053G>A (p.Gly351=) rs1594337533
NM_001876.4(CPT1A):c.1056G>A (p.Arg352=) rs2153998396
NM_001876.4(CPT1A):c.1057C>T (p.Leu353=)
NM_001876.4(CPT1A):c.1065G>A (p.Lys355=) rs959723300
NM_001876.4(CPT1A):c.1070G>A (p.Arg357Gln)
NM_001876.4(CPT1A):c.1080G>A (p.Glu360=) rs1035252133
NM_001876.4(CPT1A):c.1093dup (p.Arg365fs)
NM_001876.4(CPT1A):c.1098C>A (p.Ile366=) rs1855413826
NM_001876.4(CPT1A):c.1098C>T (p.Ile366=)
NM_001876.4(CPT1A):c.1099C>T (p.Leu367=) rs1367006911
NM_001876.4(CPT1A):c.1101G>A (p.Leu367=)
NM_001876.4(CPT1A):c.1104C>T (p.Asp368=) rs2153998382
NM_001876.4(CPT1A):c.111T>C (p.His37=)
NM_001876.4(CPT1A):c.1125C>T (p.Pro375=)
NM_001876.4(CPT1A):c.1131G>A (p.Glu377=) rs1215645933
NM_001876.4(CPT1A):c.1153G>A (p.Ala385Thr)
NM_001876.4(CPT1A):c.1160A>T (p.Asp387Val)
NM_001876.4(CPT1A):c.1163+12A>G
NM_001876.4(CPT1A):c.1163+18C>T
NM_001876.4(CPT1A):c.1163+20T>C
NM_001876.4(CPT1A):c.1163+2T>C rs1555229059
NM_001876.4(CPT1A):c.1163+4C>T
NM_001876.4(CPT1A):c.1163+5G>A rs140999795
NM_001876.4(CPT1A):c.1163+5G>T
NM_001876.4(CPT1A):c.1163+8G>A rs768943458
NM_001876.4(CPT1A):c.1164-13A>G
NM_001876.4(CPT1A):c.1164-14C>T
NM_001876.4(CPT1A):c.1164-20G>A
NM_001876.4(CPT1A):c.1165G>A (p.Val389Ile)
NM_001876.4(CPT1A):c.1172G>A (p.Trp391Ter)
NM_001876.4(CPT1A):c.1173G>A (p.Trp391Ter)
NM_001876.4(CPT1A):c.1183C>T (p.Arg395Cys) rs1451283997
NM_001876.4(CPT1A):c.1188G>A (p.Gln396=)
NM_001876.4(CPT1A):c.1192T>C (p.Tyr398His) rs2153997934
NM_001876.4(CPT1A):c.1201C>T (p.Arg401Cys)
NM_001876.4(CPT1A):c.1202G>A (p.Arg401His)
NM_001876.4(CPT1A):c.1203del (p.Asn404fs)
NM_001876.4(CPT1A):c.1215G>A (p.Lys405=) rs1445775305
NM_001876.4(CPT1A):c.1216C>T (p.Gln406Ter) rs1594334937
NM_001876.4(CPT1A):c.1218G>A (p.Gln406=)
NM_001876.4(CPT1A):c.1227T>C (p.Asp409=) rs1185206458
NM_001876.4(CPT1A):c.122del (p.Lys41fs) rs1856354768
NM_001876.4(CPT1A):c.1239A>G (p.Lys413=) rs1274403290
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val) rs80356790
NM_001876.4(CPT1A):c.1257G>T (p.Thr419=)
NM_001876.4(CPT1A):c.1269T>C (p.Thr423=) rs2153997923
NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del) rs747376723
NM_001876.4(CPT1A):c.1272A>G (p.Glu424=)
NM_001876.4(CPT1A):c.1284A>G (p.Arg428=) rs2153997922
NM_001876.4(CPT1A):c.1296G>A (p.Pro432=) rs756320661
NM_001876.4(CPT1A):c.1296G>C (p.Pro432=) rs756320661
NM_001876.4(CPT1A):c.1301C>T (p.Thr434Met)
NM_001876.4(CPT1A):c.1323A>G (p.Lys441=) rs2153997916
NM_001876.4(CPT1A):c.1325C>A (p.Ser442Tyr) rs2153997915
NM_001876.4(CPT1A):c.1328dup (p.Leu444fs) rs2153997913
NM_001876.4(CPT1A):c.1329A>G (p.Leu443=) rs2153997912
NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter) rs397515543
NM_001876.4(CPT1A):c.1350C>T (p.Asp450=) rs2153997906
NM_001876.4(CPT1A):c.1352+13C>T
NM_001876.4(CPT1A):c.1352+14C>G
NM_001876.4(CPT1A):c.1352+1G>C
NM_001876.4(CPT1A):c.1353-13G>T
NM_001876.4(CPT1A):c.1353-15G>C
NM_001876.4(CPT1A):c.1353-15GT[2]
NM_001876.4(CPT1A):c.1353-16T>A
NM_001876.4(CPT1A):c.1353-20C>T
NM_001876.4(CPT1A):c.1353-4G>T rs577271875
NM_001876.4(CPT1A):c.1353-8T>C rs2153997788
NM_001876.4(CPT1A):c.1367C>A (p.Ser456Ter) rs1478167106
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu) rs1478167106
NM_001876.4(CPT1A):c.1368G>C (p.Ser456=) rs563338783
NM_001876.4(CPT1A):c.1380T>C (p.Val460=)
NM_001876.4(CPT1A):c.1383C>T (p.Val461=) rs2153997781
NM_001876.4(CPT1A):c.1386C>A (p.Phe462Leu) rs2153997779
NM_001876.4(CPT1A):c.1395G>A (p.Gly465=) rs774577615
NM_001876.4(CPT1A):c.1395G>C (p.Gly465=) rs774577615
NM_001876.4(CPT1A):c.1395G>T (p.Gly465=) rs774577615
NM_001876.4(CPT1A):c.1405C>T (p.Leu469Phe) rs1315026195
NM_001876.4(CPT1A):c.141+10G>A
NM_001876.4(CPT1A):c.141+13T>A
NM_001876.4(CPT1A):c.141+17T>A
NM_001876.4(CPT1A):c.141+6C>G rs1856354034
NM_001876.4(CPT1A):c.142-12G>A
NM_001876.4(CPT1A):c.142-13T>C
NM_001876.4(CPT1A):c.142-13T>G
NM_001876.4(CPT1A):c.142-14G>A
NM_001876.4(CPT1A):c.142-14G>T
NM_001876.4(CPT1A):c.142-15G>C
NM_001876.4(CPT1A):c.142-17C>T
NM_001876.4(CPT1A):c.142-18C>T
NM_001876.4(CPT1A):c.142-20G>T
NM_001876.4(CPT1A):c.1422C>T (p.Ser474=)
NM_001876.4(CPT1A):c.1433C>T (p.Ala478Val) rs2153997775
NM_001876.4(CPT1A):c.1435_1441del (p.Pro479fs)
NM_001876.4(CPT1A):c.1437G>C (p.Pro479=) rs554525176
NM_001876.4(CPT1A):c.1437G>T (p.Pro479=)
NM_001876.4(CPT1A):c.1441G>A (p.Val481Met)
NM_001876.4(CPT1A):c.1449C>T (p.His483=)
NM_001876.4(CPT1A):c.1458+17T>A
NM_001876.4(CPT1A):c.1458+17T>C
NM_001876.4(CPT1A):c.1458+19C>G
NM_001876.4(CPT1A):c.1458+8T>G rs2153997771
NM_001876.4(CPT1A):c.1458+9T>C
NM_001876.4(CPT1A):c.1459-1G>A rs1057517046
NM_001876.4(CPT1A):c.1459-5G>T
NM_001876.4(CPT1A):c.1459-6dup rs767372374
NM_001876.4(CPT1A):c.1459T>G (p.Tyr487Asp) rs985269276
NM_001876.4(CPT1A):c.1471A>G (p.Ile491Val)
NM_001876.4(CPT1A):c.1474G>C (p.Asp492His)
NM_001876.4(CPT1A):c.1485G>T (p.Gln495His)
NM_001876.4(CPT1A):c.1488G>A (p.Leu496=) rs2153997100
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1493del (p.Tyr498fs)
NM_001876.4(CPT1A):c.1494T>C (p.Tyr498=)
NM_001876.4(CPT1A):c.1497G>A (p.Ala499=)
NM_001876.4(CPT1A):c.1509C>T (p.His503=) rs2153997092
NM_001876.4(CPT1A):c.151dup (p.Ile51fs)
NM_001876.4(CPT1A):c.1520_1529dup (p.Asn511fs)
NM_001876.4(CPT1A):c.1526A>G (p.Asn509Ser)
NM_001876.4(CPT1A):c.1528C>A (p.Pro510Thr)
NM_001876.4(CPT1A):c.1528C>G (p.Pro510Ala)
NM_001876.4(CPT1A):c.1534A>G (p.Ile512Val)
NM_001876.4(CPT1A):c.1538C>T (p.Pro513Leu)
NM_001876.4(CPT1A):c.153C>T (p.Ile51=)
NM_001876.4(CPT1A):c.1542C>T (p.Tyr514=)
NM_001876.4(CPT1A):c.1548C>T (p.Thr516=)
NM_001876.4(CPT1A):c.1554G>T (p.Leu518=)
NM_001876.4(CPT1A):c.1566C>T (p.Ile522=)
NM_001876.4(CPT1A):c.1567C>G (p.Pro523Ala) rs1855114160
NM_001876.4(CPT1A):c.1568C>G (p.Pro523Arg)
NM_001876.4(CPT1A):c.1568C>T (p.Pro523Leu)
NM_001876.4(CPT1A):c.1569G>C (p.Pro523=) rs754717309
NM_001876.4(CPT1A):c.1573dup (p.Glu525fs) rs1855113733
NM_001876.4(CPT1A):c.1575+10G>A rs2153997077
NM_001876.4(CPT1A):c.1575+13T>A
NM_001876.4(CPT1A):c.1575+14A>G
NM_001876.4(CPT1A):c.1575+16C>A
NM_001876.4(CPT1A):c.1575+1G>A rs1282293820
NM_001876.4(CPT1A):c.1575+1G>T
NM_001876.4(CPT1A):c.1575A>G (p.Glu525=)
NM_001876.4(CPT1A):c.1576-19T>C
NM_001876.4(CPT1A):c.1576-20T>G
NM_001876.4(CPT1A):c.1576-2A>G rs1555227607
NM_001876.4(CPT1A):c.1576-6C>T
NM_001876.4(CPT1A):c.1576-8C>G
NM_001876.4(CPT1A):c.1576-8C>T
NM_001876.4(CPT1A):c.1576-9TC[4]
NM_001876.4(CPT1A):c.1581A>G (p.Gln527=) rs1158620106
NM_001876.4(CPT1A):c.1587T>A (p.Val529=)
NM_001876.4(CPT1A):c.1595C>A (p.Thr532Asn)
NM_001876.4(CPT1A):c.1596C>G (p.Thr532=) rs750402883
NM_001876.4(CPT1A):c.1597T>C (p.Ser533Pro) rs1855050882
NM_001876.4(CPT1A):c.159C>A (p.Gly53=) rs781443576
NM_001876.4(CPT1A):c.159C>T (p.Gly53=)
NM_001876.4(CPT1A):c.1600C>G (p.Leu534Val)
NM_001876.4(CPT1A):c.160G>A (p.Val54Met) rs147389938
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu) rs147389938
NM_001876.4(CPT1A):c.1614T>C (p.Asn538=) rs2153996790
NM_001876.4(CPT1A):c.1618del (p.Leu540fs)
NM_001876.4(CPT1A):c.1620G>C (p.Leu540=) rs2153996789
NM_001876.4(CPT1A):c.1630G>A (p.Val544Met) rs2153996787
NM_001876.4(CPT1A):c.1632G>A (p.Val544=)
NM_001876.4(CPT1A):c.1638C>T (p.Phe546=) rs148377571
NM_001876.4(CPT1A):c.163T>C (p.Tyr55His)
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=) rs1314725177
NM_001876.4(CPT1A):c.1656A>G (p.Val552=) rs1594326863
NM_001876.4(CPT1A):c.1658C>T (p.Ala553Val) rs2153996784
NM_001876.4(CPT1A):c.165C>A (p.Tyr55Ter)
NM_001876.4(CPT1A):c.165C>T (p.Tyr55=)
NM_001876.4(CPT1A):c.1662T>C (p.Phe554=) rs1855048075
NM_001876.4(CPT1A):c.1662del (p.Phe554fs)
NM_001876.4(CPT1A):c.1664G>A (p.Gly555Asp) rs1566348991
NM_001876.4(CPT1A):c.1670dup (p.Ile558fs)
NM_001876.4(CPT1A):c.1674C>A (p.Ile558=)
NM_001876.4(CPT1A):c.1675A>G (p.Ile559Val) rs1413070376
NM_001876.4(CPT1A):c.1677C>T (p.Ile559=) rs2153996781
NM_001876.4(CPT1A):c.1685G>C (p.Cys562Ser)
NM_001876.4(CPT1A):c.1688G>A (p.Arg563His)
NM_001876.4(CPT1A):c.1688G>T (p.Arg563Leu)
NM_001876.4(CPT1A):c.168G>A (p.Pro56=)
NM_001876.4(CPT1A):c.168G>C (p.Pro56=)
NM_001876.4(CPT1A):c.168G>T (p.Pro56=)
NM_001876.4(CPT1A):c.1694G>T (p.Ser565Ile) rs200826577
NM_001876.4(CPT1A):c.1695C>T (p.Ser565=)
NM_001876.4(CPT1A):c.1698A>G (p.Pro566=)
NM_001876.4(CPT1A):c.1701C>T (p.Asp567=)
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=) rs1855045353
NM_001876.4(CPT1A):c.1709_1710del (p.Val570fs) rs2153996775
NM_001876.4(CPT1A):c.1710G>A (p.Val570=)
NM_001876.4(CPT1A):c.1716G>A (p.Leu572=)
NM_001876.4(CPT1A):c.1728G>T (p.Leu576=) rs751342542
NM_001876.4(CPT1A):c.1734C>T (p.His578=)
NM_001876.4(CPT1A):c.1740+10G>A rs1342674051
NM_001876.4(CPT1A):c.1740+12C>T
NM_001876.4(CPT1A):c.1740+13C>T
NM_001876.4(CPT1A):c.1740+14G>A
NM_001876.4(CPT1A):c.1740+19G>A
NM_001876.4(CPT1A):c.1740+19G>T
NM_001876.4(CPT1A):c.1740+1G>A
NM_001876.4(CPT1A):c.1740+20G>A
NM_001876.4(CPT1A):c.1740+8C>A
NM_001876.4(CPT1A):c.1740+9T>C
NM_001876.4(CPT1A):c.1741-4C>T rs1249777003
NM_001876.4(CPT1A):c.1741-8T>C rs1479907760
NM_001876.4(CPT1A):c.1743C>T (p.Asp581=) rs761235612
NM_001876.4(CPT1A):c.1745T>G (p.Met582Arg) rs369312504
NM_001876.4(CPT1A):c.1755T>C (p.Phe585=)
NM_001876.4(CPT1A):c.1762_1766dup (p.Tyr589Ter) rs2153995212
NM_001876.4(CPT1A):c.1764A>G (p.Thr588=)
NM_001876.4(CPT1A):c.1767C>A (p.Tyr589Ter)
NM_001876.4(CPT1A):c.1767C>G (p.Tyr589Ter)
NM_001876.4(CPT1A):c.1768G>A (p.Glu590Lys)
NM_001876.4(CPT1A):c.1775C>T (p.Ser592Phe)
NM_001876.4(CPT1A):c.1782C>A (p.Thr594=)
NM_001876.4(CPT1A):c.1782C>G (p.Thr594=)
NM_001876.4(CPT1A):c.1782C>T (p.Thr594=) rs2153995211
NM_001876.4(CPT1A):c.1783C>T (p.Arg595Trp)
NM_001876.4(CPT1A):c.1784G>A (p.Arg595Gln)
NM_001876.4(CPT1A):c.1785G>A (p.Arg595=)
NM_001876.4(CPT1A):c.1793G>A (p.Arg598Gln) rs878856345
NM_001876.4(CPT1A):c.1796_1797del (p.Glu599fs)
NM_001876.4(CPT1A):c.1799G>C (p.Gly600Ala) rs1173933704
NM_001876.4(CPT1A):c.1800G>A (p.Gly600=) rs745966632
NM_001876.4(CPT1A):c.1815G>A (p.Val605=)
NM_001876.4(CPT1A):c.1817G>A (p.Arg606His)
NM_001876.4(CPT1A):c.1818C>T (p.Arg606=) rs1201271520
NM_001876.4(CPT1A):c.1827C>T (p.Thr609=)
NM_001876.4(CPT1A):c.1830T>G (p.Thr610=) rs2153995199
NM_001876.4(CPT1A):c.1839C>A (p.Cys613Ter)
NM_001876.4(CPT1A):c.1839C>T (p.Cys613=)
NM_001876.4(CPT1A):c.183T>C (p.Ser61=) rs2154001166
NM_001876.4(CPT1A):c.1842C>T (p.Asp614=)
NM_001876.4(CPT1A):c.1854C>T (p.Ala618=) rs1380885875
NM_001876.4(CPT1A):c.1855del (p.Met619fs)
NM_001876.4(CPT1A):c.1869C>A (p.Ala623=) rs2153995190
NM_001876.4(CPT1A):c.1869C>T (p.Ala623=) rs2153995190
NM_001876.4(CPT1A):c.1875+10C>T
NM_001876.4(CPT1A):c.1875+11A>G rs1854659204
NM_001876.4(CPT1A):c.1875+12T>C
NM_001876.4(CPT1A):c.1875+13C>G
NM_001876.4(CPT1A):c.1875+18T>G
NM_001876.4(CPT1A):c.1875+19G>C
NM_001876.4(CPT1A):c.1875+5T>C
NM_001876.4(CPT1A):c.1875+9C>T
NM_001876.4(CPT1A):c.1876-10T>G
NM_001876.4(CPT1A):c.1876-17C>T
NM_001876.4(CPT1A):c.1876-19C>A
NM_001876.4(CPT1A):c.1876-6A>T
NM_001876.4(CPT1A):c.1876-9del
NM_001876.4(CPT1A):c.1879G>T (p.Glu627Ter)
NM_001876.4(CPT1A):c.1881A>G (p.Glu627=)
NM_001876.4(CPT1A):c.1882_1885del (p.Gln628fs)
NM_001876.4(CPT1A):c.1890G>A (p.Leu630=) rs1854622746
NM_001876.4(CPT1A):c.1895T>A (p.Leu632Ter) rs2153995016
NM_001876.4(CPT1A):c.18A>G (p.Gln6=) rs2154001368
NM_001876.4(CPT1A):c.1902G>A (p.Lys634=) rs1854622367
NM_001876.4(CPT1A):c.1907C>T (p.Ala636Val) rs775438656
NM_001876.4(CPT1A):c.1909T>G (p.Ser637Ala)
NM_001876.4(CPT1A):c.1911T>C (p.Ser637=)
NM_001876.4(CPT1A):c.1912G>A (p.Glu638Lys) rs1854621732
NM_001876.4(CPT1A):c.1923G>A (p.Gln641=) rs1189618879
NM_001876.4(CPT1A):c.1925del (p.His642fs)
NM_001876.4(CPT1A):c.1938C>A (p.Leu646=)
NM_001876.4(CPT1A):c.1938C>T (p.Leu646=)
NM_001876.4(CPT1A):c.1939G>A (p.Ala647Thr)
NM_001876.4(CPT1A):c.193G>A (p.Val65Met)
NM_001876.4(CPT1A):c.1941C>T (p.Ala647=)
NM_001876.4(CPT1A):c.1947C>G (p.Thr649=) rs766536084
NM_001876.4(CPT1A):c.1958T>C (p.Ile653Thr)
NM_001876.4(CPT1A):c.1963C>G (p.Arg655Gly)
NM_001876.4(CPT1A):c.1963C>T (p.Arg655Cys)
NM_001876.4(CPT1A):c.1967A>G (p.His656Arg) rs1261847888
NM_001876.4(CPT1A):c.1968C>T (p.His656=)
NM_001876.4(CPT1A):c.1970T>C (p.Leu657Pro) rs1854618343
NM_001876.4(CPT1A):c.1984G>A (p.Val662Met)
NM_001876.4(CPT1A):c.1984dup (p.Val662fs) rs2153994995
NM_001876.4(CPT1A):c.198G>T (p.Val66=)
NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter) rs1057516800
NM_001876.4(CPT1A):c.2005G>T (p.Val669Leu) rs2153994987
NM_001876.4(CPT1A):c.2010G>A (p.Glu670=) rs2153994986
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=) rs755323437
NM_001876.4(CPT1A):c.2018_2022del (p.Pro672_Phe673insTer) rs1163935346
NM_001876.4(CPT1A):c.2025G>A (p.Lys675=)
NM_001876.4(CPT1A):c.2028+11T>A
NM_001876.4(CPT1A):c.2028+19T>C
NM_001876.4(CPT1A):c.2028+19_2028+21del
NM_001876.4(CPT1A):c.2028+1G>A rs2153994981
NM_001876.4(CPT1A):c.2028+2T>G rs1555226417
NM_001876.4(CPT1A):c.2028+9C>A
NM_001876.4(CPT1A):c.2028+9C>T rs1300825876
NM_001876.4(CPT1A):c.2029-10C>T rs2153994803
NM_001876.4(CPT1A):c.2029-11del
NM_001876.4(CPT1A):c.2029-14G>A
NM_001876.4(CPT1A):c.2029-14G>T
NM_001876.4(CPT1A):c.2029-16C>T
NM_001876.4(CPT1A):c.2029-3T>C
NM_001876.4(CPT1A):c.2029-7T>C
NM_001876.4(CPT1A):c.2029-8C>T
NM_001876.4(CPT1A):c.2031T>A (p.Val677=) rs2153994801
NM_001876.4(CPT1A):c.2037T>C (p.Ser679=) rs1428078221
NM_001876.4(CPT1A):c.2049A>G (p.Arg683=)
NM_001876.4(CPT1A):c.2050_2051del (p.Leu684fs)
NM_001876.4(CPT1A):c.2061C>G (p.Ser687Arg) rs1269472669
NM_001876.4(CPT1A):c.2061C>T (p.Ser687=)
NM_001876.4(CPT1A):c.2062C>T (p.Gln688Ter)
NM_001876.4(CPT1A):c.2067C>G (p.Thr689=) rs751692323
NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter) rs765161206
NM_001876.4(CPT1A):c.2076G>A (p.Gln692=)
NM_001876.4(CPT1A):c.2082G>A (p.Val694=) rs2153994793
NM_001876.4(CPT1A):c.2084A>G (p.Glu695Gly) rs1264713147
NM_001876.4(CPT1A):c.2088G>A (p.Leu696=) rs1594315314
NM_001876.4(CPT1A):c.2088G>C (p.Leu696=) rs1594315314
NM_001876.4(CPT1A):c.2090T>C (p.Phe697Ser) rs2153994789
NM_001876.4(CPT1A):c.2099A>G (p.Glu700Gly)
NM_001876.4(CPT1A):c.2103T>C (p.Asn701=) rs1263609871
NM_001876.4(CPT1A):c.2107C>A (p.Pro703Thr)
NM_001876.4(CPT1A):c.2108C>T (p.Pro703Leu)
NM_001876.4(CPT1A):c.211A>G (p.Thr71Ala)
NM_001876.4(CPT1A):c.2122A>G (p.Ser708Gly)
NM_001876.4(CPT1A):c.2124C>A (p.Ser708Arg) rs773748237
NM_001876.4(CPT1A):c.2124C>T (p.Ser708=) rs773748237
NM_001876.4(CPT1A):c.2125G>A (p.Gly709Arg)
NM_001876.4(CPT1A):c.2128G>C (p.Gly710Arg)
NM_001876.4(CPT1A):c.2130G>A (p.Gly710=)
NM_001876.4(CPT1A):c.2138G>T (p.Gly713Val)
NM_001876.4(CPT1A):c.213A>G (p.Thr71=)
NM_001876.4(CPT1A):c.2142+12G>A
NM_001876.4(CPT1A):c.2142+19G>A
NM_001876.4(CPT1A):c.2142+2T>C
NM_001876.4(CPT1A):c.2142+6T>C rs777779540
NM_001876.4(CPT1A):c.2142+8C>A rs147563740
NM_001876.4(CPT1A):c.2143-12C>G
NM_001876.4(CPT1A):c.2143-4C>T
NM_001876.4(CPT1A):c.2143-6C>T rs931099159
NM_001876.4(CPT1A):c.2148T>C (p.Ala716=) rs1946764266
NM_001876.4(CPT1A):c.2149G>A (p.Asp717Asn)
NM_001876.4(CPT1A):c.2157C>G (p.Gly719=)
NM_001876.4(CPT1A):c.2166G>A (p.Val722=) rs2153994718
NM_001876.4(CPT1A):c.216G>T (p.Thr72=)
NM_001876.4(CPT1A):c.2172C>T (p.Tyr724=) rs2153994715
NM_001876.4(CPT1A):c.2184A>C (p.Gly728=)
NM_001876.4(CPT1A):c.2184A>G (p.Gly728=)
NM_001876.4(CPT1A):c.2190C>T (p.Asn730=)
NM_001876.4(CPT1A):c.2193C>A (p.Leu731=)
NM_001876.4(CPT1A):c.2197A>G (p.Asn733Asp)
NM_001876.4(CPT1A):c.2205C>T (p.His735=) rs2153994709
NM_001876.4(CPT1A):c.221_241del (p.Tyr74_Ser80del) rs1856241184
NM_001876.4(CPT1A):c.2223T>C (p.Ser741=) rs947049863
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) rs398123654
NM_001876.4(CPT1A):c.222C>G (p.Tyr74Ter)
NM_001876.4(CPT1A):c.2235+14G>A
NM_001876.4(CPT1A):c.2235+14G>T
NM_001876.4(CPT1A):c.2235+15A>C
NM_001876.4(CPT1A):c.2235+16A>G
NM_001876.4(CPT1A):c.2235+20C>A
NM_001876.4(CPT1A):c.2235+8T>C
NM_001876.4(CPT1A):c.2235+9G>A rs1946761066
NM_001876.4(CPT1A):c.2236-10T>C
NM_001876.4(CPT1A):c.2236-14T>C
NM_001876.4(CPT1A):c.2236-14T>G rs781040808
NM_001876.4(CPT1A):c.2236-16T>C
NM_001876.4(CPT1A):c.2236-16_2236-10dup
NM_001876.4(CPT1A):c.2236-7A>C
NM_001876.4(CPT1A):c.2236-7A>G rs770912592
NM_001876.4(CPT1A):c.2236G>T (p.Asp746Tyr)
NM_001876.4(CPT1A):c.2238T>G (p.Asp746Glu) rs2153994514
NM_001876.4(CPT1A):c.223G>A (p.Ala75Thr)
NM_001876.4(CPT1A):c.2260C>A (p.Leu754Met)
NM_001876.4(CPT1A):c.2271A>C (p.Ala757=) rs2153994511
NM_001876.4(CPT1A):c.2280C>T (p.Asp760=) rs2153994510
NM_001876.4(CPT1A):c.2284A>G (p.Ile762Val)
NM_001876.4(CPT1A):c.228G>A (p.Lys76=) rs2154001163
NM_001876.4(CPT1A):c.2292G>A (p.Leu764=)
NM_001876.4(CPT1A):c.2293T>C (p.Phe765Leu) rs1946717191
NM_001876.4(CPT1A):c.2298T>G (p.Gly766=)
NM_001876.4(CPT1A):c.2309A>G (p.Asn770Ser)
NM_001876.4(CPT1A):c.2313C>T (p.Ser771=) rs2153994502
NM_001876.4(CPT1A):c.2322A>G (p.Ter774=) rs1170837033
NM_001876.4(CPT1A):c.239C>T (p.Ser80Leu)
NM_001876.4(CPT1A):c.240G>C (p.Ser80=)
NM_001876.4(CPT1A):c.243A>G (p.Leu81=) rs2154001161
NM_001876.4(CPT1A):c.244G>A (p.Gly82Arg) rs2154001160
NM_001876.4(CPT1A):c.251T>C (p.Ile84Thr)
NM_001876.4(CPT1A):c.261C>T (p.Ile87=) rs2154001159
NM_001876.4(CPT1A):c.277A>C (p.Thr93Pro) rs2154001156
NM_001876.4(CPT1A):c.278C>T (p.Thr93Met)
NM_001876.4(CPT1A):c.279G>A (p.Thr93=)
NM_001876.4(CPT1A):c.279G>T (p.Thr93=) rs375467139
NM_001876.4(CPT1A):c.281+13G>A
NM_001876.4(CPT1A):c.281+7A>T
NM_001876.4(CPT1A):c.281+8A>C
NM_001876.4(CPT1A):c.281C>T (p.Ala94Val)
NM_001876.4(CPT1A):c.282-10G>A rs1376516631
NM_001876.4(CPT1A):c.282-10G>C rs1376516631
NM_001876.4(CPT1A):c.282-11T>C
NM_001876.4(CPT1A):c.282-14G>T
NM_001876.4(CPT1A):c.282-6C>T
NM_001876.4(CPT1A):c.285C>T (p.Asn95=)
NM_001876.4(CPT1A):c.288C>T (p.Cys96=)
NM_001876.4(CPT1A):c.289A>G (p.Met97Val)
NM_001876.4(CPT1A):c.290T>C (p.Met97Thr)
NM_001876.4(CPT1A):c.294C>T (p.Ser98=)
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.4(CPT1A):c.2T>G (p.Met1Arg)
NM_001876.4(CPT1A):c.303G>C (p.Thr101=) rs553777167
NM_001876.4(CPT1A):c.304A>C (p.Lys102Gln)
NM_001876.4(CPT1A):c.309C>T (p.Asn103=) rs200536266
NM_001876.4(CPT1A):c.310G>A (p.Val104Met)
NM_001876.4(CPT1A):c.312G>C (p.Val104=) rs2154000830
NM_001876.4(CPT1A):c.315C>T (p.Val105=) rs2154000829
NM_001876.4(CPT1A):c.321C>A (p.Gly107=)
NM_001876.4(CPT1A):c.339C>A (p.Gly113=) rs2154000828
NM_001876.4(CPT1A):c.340C>T (p.Leu114=) rs1407504305
NM_001876.4(CPT1A):c.358G>A (p.Val120Ile)
NM_001876.4(CPT1A):c.360C>T (p.Val120=)
NM_001876.4(CPT1A):c.36C>T (p.Phe12=) rs2154001367
NM_001876.4(CPT1A):c.370T>C (p.Tyr124His)
NM_001876.4(CPT1A):c.375C>A (p.Ser125=)
NM_001876.4(CPT1A):c.384G>A (p.Val128=) rs2154000820
NM_001876.4(CPT1A):c.387G>A (p.Leu129=)
NM_001876.4(CPT1A):c.390C>A (p.Leu130=) rs188016546
NM_001876.4(CPT1A):c.398A>C (p.His133Pro) rs2154000819
NM_001876.4(CPT1A):c.39G>A (p.Thr13=)
NM_001876.4(CPT1A):c.400G>A (p.Gly134Arg)
NM_001876.4(CPT1A):c.405G>A (p.Trp135Ter)
NM_001876.4(CPT1A):c.417G>C (p.Glu139Asp)
NM_001876.4(CPT1A):c.418C>T (p.His140Tyr)
NM_001876.4(CPT1A):c.433C>G (p.Arg145Gly)
NM_001876.4(CPT1A):c.433C>T (p.Arg145Cys) rs763241992
NM_001876.4(CPT1A):c.441C>T (p.Thr147=)
NM_001876.4(CPT1A):c.444G>A (p.Lys148=)
NM_001876.4(CPT1A):c.446T>C (p.Ile149Thr)
NM_001876.4(CPT1A):c.453+18T>C
NM_001876.4(CPT1A):c.453+7G>A
NM_001876.4(CPT1A):c.453+9G>C rs183694834
NM_001876.4(CPT1A):c.454-10C>G rs748910520
NM_001876.4(CPT1A):c.454-10C>T rs748910520
NM_001876.4(CPT1A):c.454-12C>T
NM_001876.4(CPT1A):c.454-12CT[3]
NM_001876.4(CPT1A):c.454-14T>C
NM_001876.4(CPT1A):c.454-16A>C
NM_001876.4(CPT1A):c.454-5T>C
NM_001876.4(CPT1A):c.454-6C>A rs769462031
NM_001876.4(CPT1A):c.454-6C>T rs769462031
NM_001876.4(CPT1A):c.457A>G (p.Met153Val)
NM_001876.4(CPT1A):c.459G>A (p.Met153Ile)
NM_001876.4(CPT1A):c.465del (p.Ile156fs) rs1855979917
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter) rs80356782
NM_001876.4(CPT1A):c.479G>A (p.Arg160Gln)
NM_001876.4(CPT1A):c.47C>T (p.Pro16Leu) rs747575697
NM_001876.4(CPT1A):c.48G>A (p.Pro16=)
NM_001876.4(CPT1A):c.48G>C (p.Pro16=) rs756237180
NM_001876.4(CPT1A):c.491T>C (p.Leu164Ser) rs2154000557
NM_001876.4(CPT1A):c.507A>C (p.Thr169=) rs547886138
NM_001876.4(CPT1A):c.507A>G (p.Thr169=) rs547886138
NM_001876.4(CPT1A):c.528C>A (p.Val176=) rs917723842
NM_001876.4(CPT1A):c.528C>G (p.Val176=)
NM_001876.4(CPT1A):c.530C>T (p.Pro177Leu)
NM_001876.4(CPT1A):c.530del (p.Pro177fs) rs2154000550
NM_001876.4(CPT1A):c.531G>A (p.Pro177=)
NM_001876.4(CPT1A):c.531G>T (p.Pro177=)
NM_001876.4(CPT1A):c.534T>C (p.Ala178=) rs2154000549
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile) rs542856213
NM_001876.4(CPT1A):c.539_540del (p.Lys180fs) rs1319341024
NM_001876.4(CPT1A):c.553A>C (p.Arg185=)
NM_001876.4(CPT1A):c.555+6T>C
NM_001876.4(CPT1A):c.555+9G>A rs2154000543
NM_001876.4(CPT1A):c.556-12del rs113037606
NM_001876.4(CPT1A):c.556-17del
NM_001876.4(CPT1A):c.556-17dup
NM_001876.4(CPT1A):c.556-18T>C
NM_001876.4(CPT1A):c.556-4C>T rs2154000205
NM_001876.4(CPT1A):c.556-5C>G
NM_001876.4(CPT1A):c.559C>T (p.Leu187=)
NM_001876.4(CPT1A):c.562C>T (p.Gln188Ter)
NM_001876.4(CPT1A):c.567G>A (p.Ser189=) rs1366738895
NM_001876.4(CPT1A):c.567G>C (p.Ser189=)
NM_001876.4(CPT1A):c.570G>A (p.Val190=)
NM_001876.4(CPT1A):c.573G>A (p.Arg191=)
NM_001876.4(CPT1A):c.597C>T (p.Phe199=) rs772640633
NM_001876.4(CPT1A):c.602G>A (p.Arg201Gln)
NM_001876.4(CPT1A):c.603G>A (p.Arg201=) rs2228504
NM_001876.4(CPT1A):c.603G>T (p.Arg201=)
NM_001876.4(CPT1A):c.61C>T (p.Leu21=) rs1856357025
NM_001876.4(CPT1A):c.657G>A (p.Trp219Ter)
NM_001876.4(CPT1A):c.65G>A (p.Arg22Gln)
NM_001876.4(CPT1A):c.661T>C (p.Leu221=)
NM_001876.4(CPT1A):c.668T>G (p.Leu223Ter) rs2154000188
NM_001876.4(CPT1A):c.683C>G (p.Ala228Gly)
NM_001876.4(CPT1A):c.687A>G (p.Thr229=)
NM_001876.4(CPT1A):c.693+10T>C
NM_001876.4(CPT1A):c.693+11A>G
NM_001876.4(CPT1A):c.693+14C>T
NM_001876.4(CPT1A):c.693+15A>G
NM_001876.4(CPT1A):c.693+16C>T
NM_001876.4(CPT1A):c.693+1G>A rs1055176086
NM_001876.4(CPT1A):c.693+9G>A
NM_001876.4(CPT1A):c.693+9G>T
NM_001876.4(CPT1A):c.694-15G>A
NM_001876.4(CPT1A):c.694-17G>A
NM_001876.4(CPT1A):c.694-20C>G
NM_001876.4(CPT1A):c.694-4C>A
NM_001876.4(CPT1A):c.694-6C>T
NM_001876.4(CPT1A):c.704G>A (p.Trp235Ter)
NM_001876.4(CPT1A):c.717C>G (p.Tyr239Ter)
NM_001876.4(CPT1A):c.723C>T (p.Tyr241=)
NM_001876.4(CPT1A):c.727C>A (p.Arg243=) rs779893091
NM_001876.4(CPT1A):c.732A>T (p.Gly244=)
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter) rs767241290
NM_001876.4(CPT1A):c.740C>T (p.Pro247Leu)
NM_001876.4(CPT1A):c.742del (p.Leu248fs) rs2154000018
NM_001876.4(CPT1A):c.74A>G (p.His25Arg)
NM_001876.4(CPT1A):c.750G>A (p.Val250=)
NM_001876.4(CPT1A):c.756C>T (p.Ser252=) rs1855767126
NM_001876.4(CPT1A):c.759C>T (p.Asn253=)
NM_001876.4(CPT1A):c.75T>C (p.His25=) rs2154001365
NM_001876.4(CPT1A):c.768C>A (p.Ala256=)
NM_001876.4(CPT1A):c.76G>T (p.Glu26Ter) rs2154001364
NM_001876.4(CPT1A):c.771+10C>T
NM_001876.4(CPT1A):c.771+12C>T
NM_001876.4(CPT1A):c.771+12del
NM_001876.4(CPT1A):c.771+13G>A rs996371611
NM_001876.4(CPT1A):c.771+15C>T
NM_001876.4(CPT1A):c.771+17G>A
NM_001876.4(CPT1A):c.771+17G>C rs201034164
NM_001876.4(CPT1A):c.771+1G>A
NM_001876.4(CPT1A):c.771+1G>C rs1555230494
NM_001876.4(CPT1A):c.771+20C>A
NM_001876.4(CPT1A):c.771+20C>T
NM_001876.4(CPT1A):c.771+8C>T
NM_001876.4(CPT1A):c.771+9A>C
NM_001876.4(CPT1A):c.772-12G>C
NM_001876.4(CPT1A):c.772-20C>A
NM_001876.4(CPT1A):c.772-7T>C
NM_001876.4(CPT1A):c.772-8C>G
NM_001876.4(CPT1A):c.772-9G>T rs936271013
NM_001876.4(CPT1A):c.772G>T (p.Asp258Tyr)
NM_001876.4(CPT1A):c.775C>T (p.Leu259=) rs1331246262
NM_001876.4(CPT1A):c.792A>G (p.Pro264=)
NM_001876.4(CPT1A):c.795T>C (p.Thr265=) rs2153999816
NM_001876.4(CPT1A):c.798C>T (p.His266=)
NM_001876.4(CPT1A):c.804G>A (p.Gln268=)
NM_001876.4(CPT1A):c.814G>A (p.Ala272Thr)
NM_001876.4(CPT1A):c.817G>A (p.Gly273Ser)
NM_001876.4(CPT1A):c.841C>G (p.Leu281Val)
NM_001876.4(CPT1A):c.851G>T (p.Arg284Leu)
NM_001876.4(CPT1A):c.862C>T (p.Arg288Trp)
NM_001876.4(CPT1A):c.873C>T (p.Ile291=) rs2153999800
NM_001876.4(CPT1A):c.879+10C>T rs2153999798
NM_001876.4(CPT1A):c.879+17C>T
NM_001876.4(CPT1A):c.879A>G (p.Pro293=)
NM_001876.4(CPT1A):c.880-15A>G
NM_001876.4(CPT1A):c.880-16T>C
NM_001876.4(CPT1A):c.880-17A>G
NM_001876.4(CPT1A):c.880-19A>C
NM_001876.4(CPT1A):c.884G>A (p.Arg295His)
NM_001876.4(CPT1A):c.892G>A (p.Gly298Arg)
NM_001876.4(CPT1A):c.896C>G (p.Ser299Cys)
NM_001876.4(CPT1A):c.899C>T (p.Thr300Met)
NM_001876.4(CPT1A):c.900G>A (p.Thr300=) rs1273814063
NM_001876.4(CPT1A):c.915C>A (p.Ser305=)
NM_001876.4(CPT1A):c.917C>T (p.Ala306Val)
NM_001876.4(CPT1A):c.921G>A (p.Gln307=)
NM_001876.4(CPT1A):c.924G>A (p.Trp308Ter) rs2153999602
NM_001876.4(CPT1A):c.927G>T (p.Glu309Asp)
NM_001876.4(CPT1A):c.928C>T (p.Arg310Trp)
NM_001876.4(CPT1A):c.931A>G (p.Met311Val)
NM_001876.4(CPT1A):c.937A>G (p.Asn313Asp) rs2153999597
NM_001876.4(CPT1A):c.957A>G (p.Gly319=) rs748754977
NM_001876.4(CPT1A):c.967+10G>A rs764374582
NM_001876.4(CPT1A):c.967+10G>C rs764374582
NM_001876.4(CPT1A):c.967+13T>C
NM_001876.4(CPT1A):c.967+20G>A
NM_001876.4(CPT1A):c.967+9A>G rs757693731
NM_001876.4(CPT1A):c.968-11G>T
NM_001876.4(CPT1A):c.968-18A>G
NM_001876.4(CPT1A):c.968-5C>T rs1855420167
NM_001876.4(CPT1A):c.968-9C>T
NM_001876.4(CPT1A):c.969C>T (p.Asp323=)
NM_001876.4(CPT1A):c.972C>A (p.Thr324=)
NM_001876.4(CPT1A):c.975C>A (p.Ile325=)
NM_001876.4(CPT1A):c.981C>T (p.His327=) rs2153998421
NM_001876.4(CPT1A):c.991A>G (p.Ser331Gly)
NM_001876.4(CPT1A):c.99C>T (p.Leu33=)
NM_001876.4(CPT1A):c.99_102del (p.Ser34fs)

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