ClinVar Miner

List of variants in gene CPT2 studied for Carnitine palmitoyltransferase II deficiency

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Gene type:
ClinVar version:
Total variants: 793
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile) rs1799821 0.46024
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822 0.15237
NM_000098.3(CPT2):c.511C>T (p.Leu171=) rs2229292 0.02118
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_000098.2(CPT2):c.-477C>T rs7545725 0.00978
NM_000098.3(CPT2):c.302C>T (p.Ala101Val) rs75939866 0.00675
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748 0.00353
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000098.3(CPT2):c.*55C>T rs61561746 0.00201
NM_000098.3(CPT2):c.341-16T>C rs180830030 0.00176
NM_000098.3(CPT2):c.932A>G (p.Asn311Ser) rs142790440 0.00143
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000098.3(CPT2):c.1372A>C (p.Lys458Gln) rs147276580 0.00085
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00067
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
NM_000098.3(CPT2):c.321A>G (p.Lys107=) rs147846614 0.00045
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) rs74315298 0.00039
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile) rs78266699 0.00038
NM_000098.3(CPT2):c.1602G>A (p.Glu534=) rs148110518 0.00037
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350 0.00035
NM_000098.3(CPT2):c.*361T>C rs558161718 0.00034
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921 0.00028
NM_000098.3(CPT2):c.236A>C (p.Lys79Thr) rs150888506 0.00027
NM_000098.3(CPT2):c.1048C>T (p.Arg350Cys) rs151003641 0.00025
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168 0.00024
NM_000098.3(CPT2):c.1519G>A (p.Val507Ile) rs142600166 0.00024
NM_000098.3(CPT2):c.1776G>A (p.Leu592=) rs141146189 0.00023
NM_000098.3(CPT2):c.912G>T (p.Gln304His) rs141553491 0.00022
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297 0.00021
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
NM_000098.3(CPT2):c.1943T>C (p.Phe648Ser) rs138125299 0.00020
NM_000098.3(CPT2):c.399A>G (p.Pro133=) rs375573986 0.00019
NM_000098.3(CPT2):c.*223A>C rs758780739 0.00017
NM_000098.3(CPT2):c.218A>G (p.Asn73Ser) rs146159244 0.00016
NM_000098.3(CPT2):c.1914A>G (p.Gln638=) rs903915351 0.00014
NM_000098.3(CPT2):c.365C>T (p.Ser122Phe) rs192275019 0.00014
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser) rs554813467 0.00014
NM_000098.3(CPT2):c.921_923del (p.Met307_Ser308delinsIle) rs751090469 0.00014
NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe) rs375109382 0.00013
NM_000098.3(CPT2):c.1428G>A (p.Leu476=) rs149557870 0.00011
NM_000098.3(CPT2):c.1518C>T (p.Ser506=) rs140798841 0.00011
NM_000098.3(CPT2):c.1251C>T (p.Phe417=) rs576822710 0.00010
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000098.3(CPT2):c.1545C>T (p.Ala515=) rs201663642 0.00010
NM_000098.2(CPT2):c.-282C>T rs886046402 0.00009
NM_000098.3(CPT2):c.1738G>A (p.Gly580Arg) rs569609298 0.00009
NM_000098.3(CPT2):c.850C>T (p.Pro284Ser) rs201163382 0.00009
NM_000098.3(CPT2):c.*439T>C rs886046410 0.00008
NM_000098.3(CPT2):c.1202G>T (p.Ser401Ile) rs146670074 0.00007
NM_000098.3(CPT2):c.846C>T (p.Pro282=) rs138855128 0.00007
NM_000098.2(CPT2):c.-285C>A rs577034240 0.00006
NM_000098.3(CPT2):c.1232C>T (p.Thr411Met) rs375957043 0.00006
NM_000098.3(CPT2):c.1497T>C (p.Thr499=) rs766629203 0.00006
NM_000098.3(CPT2):c.1674T>G (p.Ala558=) rs141814677 0.00006
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) rs199996641 0.00006
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=) rs957344521 0.00006
NM_000098.3(CPT2):c.200C>G (p.Ala67Gly) rs201966320 0.00006
NM_000098.3(CPT2):c.201A>C (p.Ala67=) rs747516495 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000098.3(CPT2):c.614A>G (p.Tyr205Cys) rs779525393 0.00006
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln) rs369369333 0.00006
NM_000098.3(CPT2):c.853G>A (p.Glu285Lys) rs200906458 0.00006
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly) rs145237292 0.00006
NM_000098.3(CPT2):c.1335C>T (p.Cys445=) rs143075786 0.00005
NM_000098.3(CPT2):c.1633G>A (p.Glu545Lys) rs774755571 0.00005
NM_000098.3(CPT2):c.1839G>T (p.Gly613=) rs755060321 0.00005
NM_000098.3(CPT2):c.921G>A (p.Met307Ile) rs745698305 0.00005
NM_000098.3(CPT2):c.1081G>A (p.Ala361Thr) rs755500312 0.00004
NM_000098.3(CPT2):c.1189G>A (p.Val397Ile) rs201745292 0.00004
NM_000098.3(CPT2):c.1229T>C (p.Val410Ala) rs372102993 0.00004
NM_000098.3(CPT2):c.1312A>G (p.Met438Val) rs374201361 0.00004
NM_000098.3(CPT2):c.1397T>C (p.Val466Ala) rs200399018 0.00004
NM_000098.3(CPT2):c.1451C>G (p.Ala484Gly) rs374183980 0.00004
NM_000098.3(CPT2):c.1645+15G>T rs753344588 0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000098.3(CPT2):c.1780A>G (p.Ser594Gly) rs773695572 0.00004
NM_000098.3(CPT2):c.1858T>C (p.Trp620Arg) rs1040318543 0.00004
NM_000098.3(CPT2):c.379G>A (p.Val127Ile) rs199545795 0.00004
NM_000098.3(CPT2):c.387G>C (p.Leu129=) rs777514571 0.00004
NM_000098.3(CPT2):c.455C>G (p.Ala152Gly) rs755331246 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly) rs200252755 0.00004
NM_000098.3(CPT2):c.800C>T (p.Ser267Leu) rs751888992 0.00004
NM_000098.3(CPT2):c.801G>A (p.Ser267=) rs762195160 0.00004
NM_000098.2(CPT2):c.-216A>G rs886046404 0.00003
NM_000098.3(CPT2):c.1032T>C (p.His344=) rs747352901 0.00003
NM_000098.3(CPT2):c.1336G>A (p.Val446Ile) rs555126720 0.00003
NM_000098.3(CPT2):c.1429C>T (p.Arg477Trp) rs770734793 0.00003
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) rs368311455 0.00003
NM_000098.3(CPT2):c.1559C>T (p.Pro520Leu) rs776754218 0.00003
NM_000098.3(CPT2):c.1813G>C (p.Val605Leu) rs751557097 0.00003
NM_000098.3(CPT2):c.1892G>A (p.Arg631His) rs1009503062 0.00003
NM_000098.3(CPT2):c.1901G>A (p.Arg634Gln) rs375766702 0.00003
NM_000098.3(CPT2):c.1964C>A (p.Ser655Tyr) rs373714948 0.00003
NM_000098.3(CPT2):c.333C>T (p.Tyr111=) rs372313619 0.00003
NM_000098.3(CPT2):c.611C>T (p.Ala204Val) rs867555821 0.00003
NM_000098.3(CPT2):c.655C>T (p.Arg219Trp) rs367691827 0.00003
NM_000098.3(CPT2):c.852C>T (p.Pro284=) rs138575554 0.00003
NM_000098.3(CPT2):c.870C>T (p.Tyr290=) rs202145705 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln) rs764849762 0.00003
NM_000098.3(CPT2):c.930C>T (p.Gly310=) rs371971257 0.00003
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr) rs750191719 0.00003
NM_000098.3(CPT2):c.1047C>T (p.Asn349=) rs148512862 0.00002
NM_000098.3(CPT2):c.1079T>C (p.Ile360Thr) rs752737849 0.00002
NM_000098.3(CPT2):c.1228G>A (p.Val410Ile) rs746567260 0.00002
NM_000098.3(CPT2):c.1263T>C (p.Asp421=) rs749714778 0.00002
NM_000098.3(CPT2):c.1313T>A (p.Met438Lys) rs377616144 0.00002
NM_000098.3(CPT2):c.1392C>T (p.Asp464=) rs201681645 0.00002
NM_000098.3(CPT2):c.1404G>A (p.Gln468=) rs140771069 0.00002
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) rs754386565 0.00002
NM_000098.3(CPT2):c.1448T>C (p.Val483Ala) rs1324631593 0.00002
NM_000098.3(CPT2):c.1460A>C (p.Glu487Ala) rs368132822 0.00002
NM_000098.3(CPT2):c.1489G>A (p.Gly497Ser) rs1479961277 0.00002
NM_000098.3(CPT2):c.1492C>T (p.Arg498Cys) rs374308679 0.00002
NM_000098.3(CPT2):c.1645+7C>T rs200596483 0.00002
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter) rs539239516 0.00002
NM_000098.3(CPT2):c.1661G>A (p.Arg554Gln) rs367796030 0.00002
NM_000098.3(CPT2):c.1878T>C (p.Ser626=) rs761631943 0.00002
NM_000098.3(CPT2):c.1886C>T (p.Pro629Leu) rs767530116 0.00002
NM_000098.3(CPT2):c.188G>A (p.Arg63Lys) rs748182542 0.00002
NM_000098.3(CPT2):c.339G>A (p.Ser113=) rs778017005 0.00002
NM_000098.3(CPT2):c.340+10C>G rs781682674 0.00002
NM_000098.3(CPT2):c.340+6T>C rs375378513 0.00002
NM_000098.3(CPT2):c.371G>A (p.Arg124Gln) rs1131691925 0.00002
NM_000098.3(CPT2):c.531C>A (p.His177Gln) rs1446192074 0.00002
NM_000098.3(CPT2):c.556A>C (p.Ile186Leu) rs377737941 0.00002
NM_000098.3(CPT2):c.627G>A (p.Ala209=) rs774374525 0.00002
NM_000098.3(CPT2):c.751T>G (p.Phe251Val) rs771966581 0.00002
NM_000098.3(CPT2):c.873G>A (p.Leu291=) rs1459404490 0.00002
NM_000098.3(CPT2):c.960G>A (p.Ser320=) rs569273347 0.00002
NM_000098.3(CPT2):c.975C>G (p.Leu325=) rs757247552 0.00002
NM_000098.2(CPT2):c.-229G>T rs886046403 0.00001
NM_000098.2(CPT2):c.-461T>C rs17848481 0.00001
NM_000098.3(CPT2):c.*81C>T rs1035232426 0.00001
NM_000098.3(CPT2):c.1005T>C (p.Leu335=) rs554776730 0.00001
NM_000098.3(CPT2):c.1013T>C (p.Leu338Ser) rs961059441 0.00001
NM_000098.3(CPT2):c.1049G>A (p.Arg350His) rs773966429 0.00001
NM_000098.3(CPT2):c.1115A>G (p.His372Arg) rs1212235186 0.00001
NM_000098.3(CPT2):c.1116C>T (p.His372=) rs761347926 0.00001
NM_000098.3(CPT2):c.1124G>T (p.Gly375Val) rs772843417 0.00001
NM_000098.3(CPT2):c.1143C>G (p.Leu381=) rs369847007 0.00001
NM_000098.3(CPT2):c.1145G>C (p.Arg382Thr) rs515726176 0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1158A>C (p.Glu386Asp) rs758408111 0.00001
NM_000098.3(CPT2):c.1188C>T (p.Ala396=) rs767826599 0.00001
NM_000098.3(CPT2):c.1215C>T (p.Thr405=) rs1208165579 0.00001
NM_000098.3(CPT2):c.1225A>G (p.Thr409Ala) rs772572668 0.00001
NM_000098.3(CPT2):c.1233G>A (p.Thr411=) rs112914907 0.00001
NM_000098.3(CPT2):c.1236G>A (p.Val412=) rs544400632 0.00001
NM_000098.3(CPT2):c.1247A>G (p.Asn416Ser) rs201008705 0.00001
NM_000098.3(CPT2):c.1255C>T (p.Leu419=) rs767852112 0.00001
NM_000098.3(CPT2):c.1284A>T (p.Thr428=) rs187044944 0.00001
NM_000098.3(CPT2):c.1290T>C (p.Ala430=) rs776488578 0.00001
NM_000098.3(CPT2):c.1327A>G (p.Ile443Val) rs774644103 0.00001
NM_000098.3(CPT2):c.1329T>C (p.Ile443=) rs767699548 0.00001
NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter) rs755395180 0.00001
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) rs756931329 0.00001
NM_000098.3(CPT2):c.1376A>T (p.Gln459Leu) rs1335909876 0.00001
NM_000098.3(CPT2):c.1389T>C (p.Pro463=) rs1160807210 0.00001
NM_000098.3(CPT2):c.1408G>A (p.Ala470Thr) rs756326862 0.00001
NM_000098.3(CPT2):c.1458C>T (p.Tyr486=) rs201241649 0.00001
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys) rs778743524 0.00001
NM_000098.3(CPT2):c.1476C>T (p.Ala492=) rs548364005 0.00001
NM_000098.3(CPT2):c.1488C>T (p.His496=) rs139321501 0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His) rs776645157 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.1508G>A (p.Arg503His) rs750079911 0.00001
NM_000098.3(CPT2):c.1536C>T (p.Cys512=) rs199573389 0.00001
NM_000098.3(CPT2):c.1557G>A (p.Glu519=) rs1293579592 0.00001
NM_000098.3(CPT2):c.1586A>C (p.Gln529Pro) rs1210368088 0.00001
NM_000098.3(CPT2):c.159T>C (p.Pro53=) rs1319637411 0.00001
NM_000098.3(CPT2):c.1603T>C (p.Cys535Arg) rs1220461521 0.00001
NM_000098.3(CPT2):c.1642A>G (p.Met548Val) rs1429653482 0.00001
NM_000098.3(CPT2):c.1646-13T>C rs547147723 0.00001
NM_000098.3(CPT2):c.1665C>G (p.His555Gln) rs1557719450 0.00001
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs) rs1557719455 0.00001
NM_000098.3(CPT2):c.1723C>T (p.Leu575=) rs1475193715 0.00001
NM_000098.3(CPT2):c.1740G>A (p.Gly580=) rs371443614 0.00001
NM_000098.3(CPT2):c.1750C>T (p.His584Tyr) rs781418379 0.00001
NM_000098.3(CPT2):c.1751A>G (p.His584Arg) rs750604350 0.00001
NM_000098.3(CPT2):c.1755T>C (p.Asn585=) rs1645442430 0.00001
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs) rs767004984 0.00001
NM_000098.3(CPT2):c.1779C>T (p.Ser593=) rs748484701 0.00001
NM_000098.3(CPT2):c.1815G>A (p.Val605=) rs761604642 0.00001
NM_000098.3(CPT2):c.1836T>C (p.Val612=) rs1248709957 0.00001
NM_000098.3(CPT2):c.1850A>G (p.His617Arg) rs1359602721 0.00001
NM_000098.3(CPT2):c.1851T>C (p.His617=) rs540322467 0.00001
NM_000098.3(CPT2):c.1857C>T (p.Asn619=) rs769535056 0.00001
NM_000098.3(CPT2):c.1871A>G (p.Asn624Ser) rs1268248169 0.00001
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys) rs74315293 0.00001
NM_000098.3(CPT2):c.1897G>T (p.Ala633Ser) rs141903761 0.00001
NM_000098.3(CPT2):c.1900C>T (p.Arg634Trp) rs1352360897 0.00001
NM_000098.3(CPT2):c.1940T>C (p.Met647Thr) rs747723963 0.00001
NM_000098.3(CPT2):c.222T>C (p.Asp74=) rs1360477206 0.00001
NM_000098.3(CPT2):c.234-7G>A rs1260976720 0.00001
NM_000098.3(CPT2):c.244C>G (p.Gln82Glu) rs1572380797 0.00001
NM_000098.3(CPT2):c.249T>C (p.Phe83=) rs767339394 0.00001
NM_000098.3(CPT2):c.267T>C (p.Asn89=) rs768408574 0.00001
NM_000098.3(CPT2):c.270G>A (p.Gly90=) rs1436061126 0.00001
NM_000098.3(CPT2):c.314A>G (p.Gln105Arg) rs753737707 0.00001
NM_000098.3(CPT2):c.324T>C (p.His108=) rs764943289 0.00001
NM_000098.3(CPT2):c.340+7A>G rs757312595 0.00001
NM_000098.3(CPT2):c.341-2A>G rs752468216 0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) rs201065226 0.00001
NM_000098.3(CPT2):c.372A>G (p.Arg124=) rs200301403 0.00001
NM_000098.3(CPT2):c.378C>T (p.Ser126=) rs780743357 0.00001
NM_000098.3(CPT2):c.382G>A (p.Val128Ile) rs769160926 0.00001
NM_000098.3(CPT2):c.393T>C (p.Phe131=) rs569391696 0.00001
NM_000098.3(CPT2):c.413A>G (p.Asn138Ser) rs1488632092 0.00001
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln) rs515726177 0.00001
NM_000098.3(CPT2):c.468T>C (p.Thr156=) rs138938770 0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691 0.00001
NM_000098.3(CPT2):c.499C>T (p.Arg167Trp) rs780940242 0.00001
NM_000098.3(CPT2):c.504T>C (p.Ala168=) rs1178731855 0.00001
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys) rs28936674 0.00001
NM_000098.3(CPT2):c.552C>G (p.Asp184Glu) rs1236021604 0.00001
NM_000098.3(CPT2):c.561C>T (p.Thr187=) rs767592132 0.00001
NM_000098.3(CPT2):c.587C>T (p.Pro196Leu) rs758823353 0.00001
NM_000098.3(CPT2):c.603G>A (p.Trp201Ter) rs745547578 0.00001
NM_000098.3(CPT2):c.608G>C (p.Gly203Ala) rs1274319358 0.00001
NM_000098.3(CPT2):c.616C>G (p.Leu206Val) rs1317020699 0.00001
NM_000098.3(CPT2):c.619G>A (p.Val207Ile) rs1016498296 0.00001
NM_000098.3(CPT2):c.623A>G (p.Asn208Ser) rs1274903903 0.00001
NM_000098.3(CPT2):c.626C>T (p.Ala209Val) rs773788921 0.00001
NM_000098.3(CPT2):c.634C>T (p.Leu212=) rs747845465 0.00001
NM_000098.3(CPT2):c.636G>T (p.Leu212=) rs973697337 0.00001
NM_000098.3(CPT2):c.656G>A (p.Arg219Gln) rs920941550 0.00001
NM_000098.3(CPT2):c.665A>G (p.Asn222Ser) rs760978599 0.00001
NM_000098.3(CPT2):c.673C>T (p.Arg225Cys) rs759733220 0.00001
NM_000098.3(CPT2):c.674G>A (p.Arg225His) rs794727616 0.00001
NM_000098.3(CPT2):c.698A>G (p.Glu233Gly) rs144805101 0.00001
NM_000098.3(CPT2):c.733G>A (p.Val245Ile) rs748117051 0.00001
NM_000098.3(CPT2):c.755A>G (p.Tyr252Cys) rs1282285790 0.00001
NM_000098.3(CPT2):c.759C>T (p.Ile253=) rs746853000 0.00001
NM_000098.3(CPT2):c.788T>C (p.Ile263Thr) rs775793760 0.00001
NM_000098.3(CPT2):c.789T>G (p.Ile263Met) rs1557717394 0.00001
NM_000098.3(CPT2):c.813A>G (p.Ala271=) rs561154406 0.00001
NM_000098.3(CPT2):c.833C>T (p.Ser278Leu) rs758337938 0.00001
NM_000098.3(CPT2):c.843C>T (p.Ser281=) rs190459228 0.00001
NM_000098.3(CPT2):c.849C>T (p.Ala283=) rs1361146199 0.00001
NM_000098.3(CPT2):c.876C>T (p.Thr292=) rs1179793805 0.00001
NM_000098.3(CPT2):c.896_906dup (p.Arg303fs) rs766004699 0.00001
NM_000098.3(CPT2):c.903G>T (p.Glu301Asp) rs764076288 0.00001
NM_000098.3(CPT2):c.936G>A (p.Glu312=) rs750820184 0.00001
NM_000098.3(CPT2):c.957C>T (p.Asp319=) rs1645417627 0.00001
NM_000098.3(CPT2):c.959C>T (p.Ser320Leu) rs763703786 0.00001
NM_000098.3(CPT2):c.963A>C (p.Ala321=) rs1438452698 0.00001
NM_000098.3(CPT2):c.984T>A (p.Asp328Glu) rs1408974808 0.00001
NC_000001.10:g.(?_53662606)_(53668111_?)del
NC_000001.10:g.(?_53662616)_(53662787_?)dup
NC_000001.10:g.(?_53662616)_(53668121_?)del
NC_000001.10:g.(?_53662616)_(53679267_?)dup
NC_000001.11:g.(?_53196934)_(53197105_?)del
NC_000001.11:g.(?_53196934)_(53213605_?)dup
NC_000001.11:g.(?_53200699)_(53200819_?)del
NC_000001.11:g.(?_53200709)_(53202439_?)del
NM_000098.2(CPT2):c.-242G>A rs548768045
NM_000098.2(CPT2):c.-242G>C rs548768045
NM_000098.2(CPT2):c.[1238_1239delAG;1342T>C]
NM_000098.3(CPT2):c.*142T>C rs1256527025
NM_000098.3(CPT2):c.1008C>T (p.Val336=)
NM_000098.3(CPT2):c.1011C>T (p.His337=) rs1024639640
NM_000098.3(CPT2):c.1014G>A (p.Leu338=) rs2100273298
NM_000098.3(CPT2):c.1020C>T (p.His340=) rs866307911
NM_000098.3(CPT2):c.1029G>A (p.Leu343=)
NM_000098.3(CPT2):c.1035G>A (p.Gly345=)
NM_000098.3(CPT2):c.1041C>T (p.Gly347=) rs985374504
NM_000098.3(CPT2):c.1048C>G (p.Arg350Gly) rs151003641
NM_000098.3(CPT2):c.1052G>A (p.Trp351Ter) rs1645419457
NM_000098.3(CPT2):c.1053G>T (p.Trp351Cys) rs761438840
NM_000098.3(CPT2):c.1055T>C (p.Phe352Ser)
NM_000098.3(CPT2):c.1056T>G (p.Phe352Leu) rs1645419681
NM_000098.3(CPT2):c.1059T>C (p.Asp353=)
NM_000098.3(CPT2):c.1061A>C (p.Lys354Thr) rs1645419714
NM_000098.3(CPT2):c.1064C>G (p.Ser355Cys) rs1645419768
NM_000098.3(CPT2):c.1071C>T (p.Asn357=)
NM_000098.3(CPT2):c.1074C>T (p.Leu358=)
NM_000098.3(CPT2):c.1077T>C (p.Ile359=) rs2100273464
NM_000098.3(CPT2):c.1080C>T (p.Ile360=) rs749833236
NM_000098.3(CPT2):c.1087dup (p.Asp363fs) rs2100273480
NM_000098.3(CPT2):c.1089T>C (p.Asp363=)
NM_000098.3(CPT2):c.1092C>T (p.Gly364=)
NM_000098.3(CPT2):c.1101C>T (p.Ala367=)
NM_000098.3(CPT2):c.1104C>G (p.Val368=)
NM_000098.3(CPT2):c.1115_1116delinsTT (p.His372Leu) rs2100273557
NM_000098.3(CPT2):c.1119T>C (p.Ser373=)
NM_000098.3(CPT2):c.1121G>A (p.Trp374Ter)
NM_000098.3(CPT2):c.1123G>A (p.Gly375Ser) rs1645420382
NM_000098.3(CPT2):c.1124G>A (p.Gly375Asp) rs772843417
NM_000098.3(CPT2):c.1128T>C (p.Asp376=)
NM_000098.3(CPT2):c.1129G>A (p.Gly377Ser)
NM_000098.3(CPT2):c.1134G>T (p.Val378=)
NM_000098.3(CPT2):c.1137A>G (p.Ala379=) rs760514258
NM_000098.3(CPT2):c.1138G>C (p.Val380Leu)
NM_000098.3(CPT2):c.1143_1144del (p.Arg382fs)
NM_000098.3(CPT2):c.1145G>A (p.Arg382Lys) rs515726176
NM_000098.3(CPT2):c.1152_1153insSVAelement
NM_000098.3(CPT2):c.1152del (p.Phe384fs)
NM_000098.3(CPT2):c.1157A>C (p.Glu386Ala) rs1468591138
NM_000098.3(CPT2):c.1170C>T (p.Asp390=) rs2100273724
NM_000098.3(CPT2):c.1174A>G (p.Thr392Ala) rs2100273738
NM_000098.3(CPT2):c.1178A>G (p.Gln393Arg)
NM_000098.3(CPT2):c.1188C>G (p.Ala396=)
NM_000098.3(CPT2):c.1190T>A (p.Val397Asp) rs2100273766
NM_000098.3(CPT2):c.1191C>T (p.Val397=) rs1321099565
NM_000098.3(CPT2):c.1196del (p.Pro399fs)
NM_000098.3(CPT2):c.1200G>A (p.Gln400=) rs2100273793
NM_000098.3(CPT2):c.1203C>T (p.Ser401=) rs1179659900
NM_000098.3(CPT2):c.1206G>A (p.Gln402=) rs2100273808
NM_000098.3(CPT2):c.1212T>A (p.Ala404=)
NM_000098.3(CPT2):c.1219G>A (p.Asp407Asn)
NM_000098.3(CPT2):c.1223_1224del (p.Ser408fs) rs752373512
NM_000098.3(CPT2):c.1227T>C (p.Thr409=) rs1279325407
NM_000098.3(CPT2):c.1234G>T (p.Val412Leu) rs575447822
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs) rs397509431
NM_000098.3(CPT2):c.1242A>G (p.Lys414=) rs763073192
NM_000098.3(CPT2):c.1243C>T (p.Leu415Phe)
NM_000098.3(CPT2):c.1244_1245del (p.Leu415fs) rs1645421667
NM_000098.3(CPT2):c.1245C>G (p.Leu415=)
NM_000098.3(CPT2):c.1248C>T (p.Asn416=)
NM_000098.3(CPT2):c.1251C>G (p.Phe417Leu)
NM_000098.3(CPT2):c.1257G>A (p.Leu419=) rs2100273948
NM_000098.3(CPT2):c.1259C>G (p.Thr420Ser)
NM_000098.3(CPT2):c.1269A>G (p.Leu423=)
NM_000098.3(CPT2):c.1272G>A (p.Lys424=)
NM_000098.3(CPT2):c.1273_1274del (p.Thr425fs)
NM_000098.3(CPT2):c.1278C>G (p.Gly426=)
NM_000098.3(CPT2):c.1278C>T (p.Gly426=)
NM_000098.3(CPT2):c.1284A>G (p.Thr428=)
NM_000098.3(CPT2):c.1289C>G (p.Ala430Gly)
NM_000098.3(CPT2):c.1293_1296del (p.Glu432fs) rs2100274025
NM_000098.3(CPT2):c.1294G>A (p.Glu432Lys) rs1645422133
NM_000098.3(CPT2):c.1299G>A (p.Lys433=)
NM_000098.3(CPT2):c.1302dup (p.Asp435Ter)
NM_000098.3(CPT2):c.1304A>C (p.Asp435Ala)
NM_000098.3(CPT2):c.1313T>C (p.Met438Thr) rs377616144
NM_000098.3(CPT2):c.1321C>T (p.Leu441Phe) rs1285817135
NM_000098.3(CPT2):c.1323C>T (p.Leu441=)
NM_000098.3(CPT2):c.1324dup (p.Thr442fs) rs1131691330
NM_000098.3(CPT2):c.1326T>A (p.Thr442=)
NM_000098.3(CPT2):c.1326T>C (p.Thr442=) rs1572385629
NM_000098.3(CPT2):c.1333T>C (p.Cys445Arg) rs1557718090
NM_000098.3(CPT2):c.1337T>A (p.Val446Asp)
NM_000098.3(CPT2):c.1339C>T (p.Gln447Ter) rs1446745791
NM_000098.3(CPT2):c.1341G>A (p.Gln447=) rs767030994
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) rs1057517525
NM_000098.3(CPT2):c.1350A>G (p.Arg450=)
NM_000098.3(CPT2):c.1353A>C (p.Gly451=)
NM_000098.3(CPT2):c.1360G>T (p.Glu454Ter) rs74315299
NM_000098.3(CPT2):c.1362A>G (p.Glu454=)
NM_000098.3(CPT2):c.1364T>A (p.Phe455Tyr) rs1645423118
NM_000098.3(CPT2):c.1368G>A (p.Leu456=)
NM_000098.3(CPT2):c.1368G>T (p.Leu456=) rs746683786
NM_000098.3(CPT2):c.1380G>A (p.Lys460=)
NM_000098.3(CPT2):c.1381C>T (p.Leu461=)
NM_000098.3(CPT2):c.1383G>A (p.Leu461=) rs779999942
NM_000098.3(CPT2):c.1383G>T (p.Leu461=)
NM_000098.3(CPT2):c.1386C>T (p.Ser462=)
NM_000098.3(CPT2):c.1393G>A (p.Ala465Thr)
NM_000098.3(CPT2):c.1394_1403del (p.Ala465fs) rs2100274299
NM_000098.3(CPT2):c.1401C>G (p.Ala467=) rs1645423595
NM_000098.3(CPT2):c.1401C>T (p.Ala467=)
NM_000098.3(CPT2):c.1402C>T (p.Gln468Ter) rs964928101
NM_000098.3(CPT2):c.1404G>T (p.Gln468His) rs140771069
NM_000098.3(CPT2):c.1408G>T (p.Ala470Ser) rs756326862
NM_000098.3(CPT2):c.1416G>A (p.Gln472=)
NM_000098.3(CPT2):c.1424T>A (p.Phe475Tyr) rs992811256
NM_000098.3(CPT2):c.1430G>A (p.Arg477Gln)
NM_000098.3(CPT2):c.1434G>A (p.Gln478=)
NM_000098.3(CPT2):c.1436A>G (p.Tyr479Cys) rs749895856
NM_000098.3(CPT2):c.1437C>G (p.Tyr479Ter)
NM_000098.3(CPT2):c.1437C>T (p.Tyr479=) rs370157946
NM_000098.3(CPT2):c.1441C>T (p.Gln481Ter)
NM_000098.3(CPT2):c.1444_1447del (p.Thr482fs)
NM_000098.3(CPT2):c.1444_1645+364del rs1645424505
NM_000098.3(CPT2):c.1459G>T (p.Glu487Ter) rs778743524
NM_000098.3(CPT2):c.1464C>A (p.Ser488=)
NM_000098.3(CPT2):c.1470C>T (p.Ser490=) rs2100274512
NM_000098.3(CPT2):c.1475C>T (p.Ala492Val)
NM_000098.3(CPT2):c.1485G>A (p.Lys495=)
NM_000098.3(CPT2):c.1491C>T (p.Gly497=)
NM_000098.3(CPT2):c.1495A>G (p.Thr499Ala)
NM_000098.3(CPT2):c.1497T>G (p.Thr499=) rs766629203
NM_000098.3(CPT2):c.1503C>G (p.Thr501=) rs2100274612
NM_000098.3(CPT2):c.1505T>C (p.Ile502Thr) rs1553169799
NM_000098.3(CPT2):c.1506C>T (p.Ile502=) rs1264962948
NM_000098.3(CPT2):c.1509C>T (p.Arg503=) rs1572385867
NM_000098.3(CPT2):c.1512G>A (p.Pro504=) rs150953507
NM_000098.3(CPT2):c.1512G>T (p.Pro504=) rs150953507
NM_000098.3(CPT2):c.1515C>T (p.Ala505=) rs2100274663
NM_000098.3(CPT2):c.1520T>G (p.Val507Gly) rs1228724988
NM_000098.3(CPT2):c.1521C>A (p.Val507=)
NM_000098.3(CPT2):c.1523A>G (p.Tyr508Cys)
NM_000098.3(CPT2):c.1524T>C (p.Tyr508=)
NM_000098.3(CPT2):c.1527A>G (p.Thr509=)
NM_000098.3(CPT2):c.1528A>G (p.Lys510Glu) rs1645425523
NM_000098.3(CPT2):c.1528_1529del (p.Lys510fs)
NM_000098.3(CPT2):c.153-11T>C
NM_000098.3(CPT2):c.153-4C>G rs2100259763
NM_000098.3(CPT2):c.153-5C>T
NM_000098.3(CPT2):c.1531A>C (p.Arg511=) rs1388956797
NM_000098.3(CPT2):c.1535G>A (p.Cys512Tyr) rs1490239014
NM_000098.3(CPT2):c.1538C>A (p.Ser513Tyr)
NM_000098.3(CPT2):c.1547T>C (p.Phe516Ser) rs398123154
NM_000098.3(CPT2):c.1548T>C (p.Phe516=) rs2100274748
NM_000098.3(CPT2):c.1552_1553del (p.Arg518fs) rs2100274755
NM_000098.3(CPT2):c.1555G>A (p.Glu519Lys) rs1458948855
NM_000098.3(CPT2):c.155T>C (p.Leu52Pro)
NM_000098.3(CPT2):c.1566G>A (p.Arg522=)
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.1581G>A (p.Glu527=) rs2100274829
NM_000098.3(CPT2):c.1590G>A (p.Gln530=)
NM_000098.3(CPT2):c.1591A>T (p.Met531Leu)
NM_000098.3(CPT2):c.1592T>C (p.Met531Thr)
NM_000098.3(CPT2):c.1595_1601del (p.Met532fs) rs1572385973
NM_000098.3(CPT2):c.1602G>C (p.Glu534Asp)
NM_000098.3(CPT2):c.1608dup (p.Lys537fs) rs1553169813
NM_000098.3(CPT2):c.1609A>G (p.Lys537Glu) rs1645426515
NM_000098.3(CPT2):c.1611G>A (p.Lys537=)
NM_000098.3(CPT2):c.1613del (p.Tyr538fs)
NM_000098.3(CPT2):c.1614C>T (p.Tyr538=)
NM_000098.3(CPT2):c.1624C>T (p.Leu542=)
NM_000098.3(CPT2):c.163C>T (p.Pro55Ser)
NM_000098.3(CPT2):c.1641A>T (p.Ala547=) rs1572386023
NM_000098.3(CPT2):c.1645+10G>A rs2100274966
NM_000098.3(CPT2):c.1645+12G>T
NM_000098.3(CPT2):c.1645+14G>T rs2100274977
NM_000098.3(CPT2):c.1645+20C>T rs574640455
NM_000098.3(CPT2):c.1645+6dup
NM_000098.3(CPT2):c.1646-14T>C
NM_000098.3(CPT2):c.1646-2A>G
NM_000098.3(CPT2):c.1646-4A>G
NM_000098.3(CPT2):c.1646-7C>A
NM_000098.3(CPT2):c.1646-9T>C
NM_000098.3(CPT2):c.1646-9T>G rs375793186
NM_000098.3(CPT2):c.164C>G (p.Pro55Arg) rs2100259793
NM_000098.3(CPT2):c.164_165del (p.Pro55fs) rs2100259785
NM_000098.3(CPT2):c.1650G>A (p.Gln550=) rs2100278235
NM_000098.3(CPT2):c.165C>A (p.Pro55=)
NM_000098.3(CPT2):c.1662A>G (p.Arg554=)
NM_000098.3(CPT2):c.1666T>G (p.Leu556Val)
NM_000098.3(CPT2):c.1670T>A (p.Phe557Tyr) rs2100278300
NM_000098.3(CPT2):c.1671T>C (p.Phe557=)
NM_000098.3(CPT2):c.1677G>A (p.Leu559=) rs2100278311
NM_000098.3(CPT2):c.1678C>T (p.Arg560Trp)
NM_000098.3(CPT2):c.1690G>A (p.Ala564Thr) rs1557719487
NM_000098.3(CPT2):c.1699G>T (p.Gly567Trp) rs758390723
NM_000098.3(CPT2):c.1701G>A (p.Gly567=)
NM_000098.3(CPT2):c.1702A>G (p.Ile568Val)
NM_000098.3(CPT2):c.170T>C (p.Leu57Pro) rs2100259802
NM_000098.3(CPT2):c.1713T>C (p.Pro571=) rs1232941559
NM_000098.3(CPT2):c.1715A>G (p.Glu572Gly) rs1183489679
NM_000098.3(CPT2):c.1721A>C (p.Tyr574Ser) rs1645442128
NM_000098.3(CPT2):c.1722C>T (p.Tyr574=)
NM_000098.3(CPT2):c.1725_1726del (p.Asp576fs) rs1645442171
NM_000098.3(CPT2):c.1737C>A (p.Tyr579Ter)
NM_000098.3(CPT2):c.1737del (p.Ala578_Tyr579insTer) rs515726178
NM_000098.3(CPT2):c.1749C>T (p.Asn583=)
NM_000098.3(CPT2):c.174A>G (p.Glu58=)
NM_000098.3(CPT2):c.1752C>A (p.His584Gln) rs1645442414
NM_000098.3(CPT2):c.1767_1777delinsT (p.Ser590fs) rs1553169975
NM_000098.3(CPT2):c.1767del (p.Ser590fs) rs1553169973
NM_000098.3(CPT2):c.1773A>T (p.Thr591=)
NM_000098.3(CPT2):c.177C>T (p.Asp59=) rs755209043
NM_000098.3(CPT2):c.1783C>T (p.Pro595Ser)
NM_000098.3(CPT2):c.1784del (p.Pro595fs) rs760255368
NM_000098.3(CPT2):c.1786G>A (p.Ala596Thr)
NM_000098.3(CPT2):c.1788A>C (p.Ala596=)
NM_000098.3(CPT2):c.1791G>A (p.Val597=) rs759101149
NM_000098.3(CPT2):c.1797T>C (p.Leu599=) rs1198321504
NM_000098.3(CPT2):c.1798G>A (p.Gly600Arg) rs1645443101
NM_000098.3(CPT2):c.1799G>A (p.Gly600Glu)
NM_000098.3(CPT2):c.1800G>A (p.Gly600=) rs762584123
NM_000098.3(CPT2):c.1800G>C (p.Gly600=)
NM_000098.3(CPT2):c.1800G>T (p.Gly600=)
NM_000098.3(CPT2):c.1802G>A (p.Gly601Asp)
NM_000098.3(CPT2):c.1802G>T (p.Gly601Val) rs2100278707
NM_000098.3(CPT2):c.1802dup (p.Phe602fs)
NM_000098.3(CPT2):c.1806del (p.Phe602fs)
NM_000098.3(CPT2):c.180C>T (p.Thr60=)
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser) rs1645443275
NM_000098.3(CPT2):c.1812T>C (p.Pro604=) rs1572387377
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs) rs908749525
NM_000098.3(CPT2):c.1822G>C (p.Asp608His) rs780286639
NM_000098.3(CPT2):c.1825G>A (p.Gly609Ser) rs1553169998
NM_000098.3(CPT2):c.1830T>C (p.Phe610=) rs2100278821
NM_000098.3(CPT2):c.1838G>C (p.Gly613Ala) rs1270645489
NM_000098.3(CPT2):c.1839G>C (p.Gly613=) rs755060321
NM_000098.3(CPT2):c.1842T>C (p.Tyr614=) rs748596204
NM_000098.3(CPT2):c.1849C>T (p.His617Tyr)
NM_000098.3(CPT2):c.1854C>T (p.Asp618=) rs1572387455
NM_000098.3(CPT2):c.1861A>C (p.Ile621Leu) rs1572387467
NM_000098.3(CPT2):c.1862T>C (p.Ile621Thr) rs1645444056
NM_000098.3(CPT2):c.1865G>A (p.Gly622Asp)
NM_000098.3(CPT2):c.1867_1890del (p.Cys623_Gly630del) rs1553170006
NM_000098.3(CPT2):c.1869C>T (p.Cys623=)
NM_000098.3(CPT2):c.1872T>C (p.Asn624=) rs759970188
NM_000098.3(CPT2):c.1874T>C (p.Val625Ala)
NM_000098.3(CPT2):c.1878T>A (p.Ser626=) rs761631943
NM_000098.3(CPT2):c.1878T>G (p.Ser626=)
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000098.3(CPT2):c.1884C>T (p.Tyr628=) rs901767832
NM_000098.3(CPT2):c.1886C>A (p.Pro629Gln) rs767530116
NM_000098.3(CPT2):c.1886del (p.Pro629fs) rs763889116
NM_000098.3(CPT2):c.188G>T (p.Arg63Ile) rs748182542
NM_000098.3(CPT2):c.1894A>G (p.Asn632Asp)
NM_000098.3(CPT2):c.1895A>G (p.Asn632Ser)
NM_000098.3(CPT2):c.1896T>C (p.Asn632=) rs2100279059
NM_000098.3(CPT2):c.1897G>A (p.Ala633Thr)
NM_000098.3(CPT2):c.1902G>A (p.Arg634=)
NM_000098.3(CPT2):c.1902G>C (p.Arg634=)
NM_000098.3(CPT2):c.1905G>A (p.Glu635=)
NM_000098.3(CPT2):c.1925_1937del (p.Lys642fs) rs515726179
NM_000098.3(CPT2):c.1927del (p.Ala643fs) rs2100279176
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer) rs1553170029
NM_000098.3(CPT2):c.1932dup (p.Glu645fs) rs1645445189
NM_000098.3(CPT2):c.1936G>A (p.Asp646Asn) rs369202713
NM_000098.3(CPT2):c.1938_1939inv (p.Met647Val)
NM_000098.3(CPT2):c.1944T>C (p.Phe648=)
NM_000098.3(CPT2):c.1953A>G (p.Leu651=) rs1645445614
NM_000098.3(CPT2):c.1954G>A (p.Glu652Lys) rs766154734
NM_000098.3(CPT2):c.1963T>C (p.Ser655Pro)
NM_000098.3(CPT2):c.1965C>T (p.Ser655=) rs2100279335
NM_000098.3(CPT2):c.196A>C (p.Ser66Arg)
NM_000098.3(CPT2):c.196A>G (p.Ser66Gly)
NM_000098.3(CPT2):c.1972A>C (p.Ser658Arg) rs1553170037
NM_000098.3(CPT2):c.1972dup (p.Ser658fs) rs1572387642
NM_000098.3(CPT2):c.1977A>G (p.Ter659=) rs1203658716
NM_000098.3(CPT2):c.202C>T (p.Gln68Ter) rs771406546
NM_000098.3(CPT2):c.204G>A (p.Gln68=) rs777038982
NM_000098.3(CPT2):c.204del (p.Lys69fs) rs1645350030
NM_000098.3(CPT2):c.213C>G (p.Leu71=)
NM_000098.3(CPT2):c.213_214del (p.Leu72fs) rs751253358
NM_000098.3(CPT2):c.215T>A (p.Leu72Ter)
NM_000098.3(CPT2):c.233+13A>G
NM_000098.3(CPT2):c.233+15C>A
NM_000098.3(CPT2):c.233+17T>C
NM_000098.3(CPT2):c.233+18T>G
NM_000098.3(CPT2):c.233+20G>A
NM_000098.3(CPT2):c.233+7A>G
NM_000098.3(CPT2):c.233+9T>C
NM_000098.3(CPT2):c.234-13T>A
NM_000098.3(CPT2):c.234-16T>G
NM_000098.3(CPT2):c.234-21_234-17del
NM_000098.3(CPT2):c.234-6T>C
NM_000098.3(CPT2):c.234-7G>C rs1260976720
NM_000098.3(CPT2):c.238del (p.Thr80fs) rs2100261764
NM_000098.3(CPT2):c.240A>T (p.Thr80=)
NM_000098.3(CPT2):c.242A>T (p.Glu81Val) rs2100261773
NM_000098.3(CPT2):c.246A>G (p.Gln82=) rs761554630
NM_000098.3(CPT2):c.253A>C (p.Lys85Gln) rs2100261799
NM_000098.3(CPT2):c.256_257del (p.Ser86fs) rs1645359135
NM_000098.3(CPT2):c.257del (p.Ser86fs)
NM_000098.3(CPT2):c.268G>A (p.Gly90Arg)
NM_000098.3(CPT2):c.283C>T (p.Leu95=) rs2100261844
NM_000098.3(CPT2):c.285G>T (p.Leu95=)
NM_000098.3(CPT2):c.297G>C (p.Leu99=)
NM_000098.3(CPT2):c.298del (p.Val100fs)
NM_000098.3(CPT2):c.320_321del (p.Lys107fs) rs2100261898
NM_000098.3(CPT2):c.340+16dup
NM_000098.3(CPT2):c.340+17G>A
NM_000098.3(CPT2):c.340+18T>A rs1553169114
NM_000098.3(CPT2):c.340+18T>C rs1553169114
NM_000098.3(CPT2):c.340+1G>A rs2100261957
NM_000098.3(CPT2):c.340+1G>C
NM_000098.3(CPT2):c.340+20G>A rs369737473
NM_000098.3(CPT2):c.340+20G>T rs369737473
NM_000098.3(CPT2):c.340+5G>A
NM_000098.3(CPT2):c.340+5_340+14del rs2100261965
NM_000098.3(CPT2):c.340+8G>A rs2100261977
NM_000098.3(CPT2):c.340+9G>C rs1397812019
NM_000098.3(CPT2):c.340+9G>T
NM_000098.3(CPT2):c.341-10dup
NM_000098.3(CPT2):c.341-17T>C
NM_000098.3(CPT2):c.341-4T>G rs2100271534
NM_000098.3(CPT2):c.341-8T>A rs2100271523
NM_000098.3(CPT2):c.341-8T>C
NM_000098.3(CPT2):c.341-9A>C rs759390063
NM_000098.3(CPT2):c.341-9del rs2100271518
NM_000098.3(CPT2):c.343C>T (p.Pro115Ser)
NM_000098.3(CPT2):c.344C>G (p.Pro115Arg)
NM_000098.3(CPT2):c.345C>A (p.Pro115=)
NM_000098.3(CPT2):c.345C>G (p.Pro115=)
NM_000098.3(CPT2):c.347G>A (p.Trp116Ter) rs1645411052
NM_000098.3(CPT2):c.350_354del (p.Phe117fs) rs778895906
NM_000098.3(CPT2):c.354T>C (p.Asp118=) rs2100271574
NM_000098.3(CPT2):c.363A>G (p.Leu121=)
NM_000098.3(CPT2):c.366T>C (p.Ser122=)
NM_000098.3(CPT2):c.368C>G (p.Ala123Gly)
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000098.3(CPT2):c.372A>C (p.Arg124=) rs200301403
NM_000098.3(CPT2):c.377C>G (p.Ser126Cys) rs750572726
NM_000098.3(CPT2):c.378C>A (p.Ser126=) rs780743357
NM_000098.3(CPT2):c.388A>C (p.Asn130His) rs886046408
NM_000098.3(CPT2):c.398C>T (p.Pro133Leu) rs1645411615
NM_000098.3(CPT2):c.399A>T (p.Pro133=) rs375573986
NM_000098.3(CPT2):c.407C>T (p.Ala136Val)
NM_000098.3(CPT2):c.411C>G (p.Phe137Leu) rs1645411725
NM_000098.3(CPT2):c.416C>G (p.Pro139Arg) rs369475478
NM_000098.3(CPT2):c.430G>C (p.Glu144Gln) rs2100271761
NM_000098.3(CPT2):c.432G>A (p.Glu144=)
NM_000098.3(CPT2):c.436A>G (p.Asn146Asp)
NM_000098.3(CPT2):c.441C>T (p.Asp147=) rs2100271790
NM_000098.3(CPT2):c.443A>G (p.Gln148Arg)
NM_000098.3(CPT2):c.444G>A (p.Gln148=)
NM_000098.3(CPT2):c.444G>C (p.Gln148His)
NM_000098.3(CPT2):c.447C>T (p.Leu149=)
NM_000098.3(CPT2):c.448A>C (p.Thr150Pro) rs141505320
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.448A>T (p.Thr150Ser) rs141505320
NM_000098.3(CPT2):c.451C>A (p.Arg151=) rs200080591
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp) rs200080591
NM_000098.3(CPT2):c.453G>A (p.Arg151=) rs2100271828
NM_000098.3(CPT2):c.454G>T (p.Ala152Ser)
NM_000098.3(CPT2):c.468T>G (p.Thr156=)
NM_000098.3(CPT2):c.469G>A (p.Val157Ile)
NM_000098.3(CPT2):c.474T>C (p.Ser158=)
NM_000098.3(CPT2):c.482G>A (p.Arg161Gln)
NM_000098.3(CPT2):c.486T>C (p.Phe162=)
NM_000098.3(CPT2):c.487C>T (p.Leu163=)
NM_000098.3(CPT2):c.495A>G (p.Thr165=)
NM_000098.3(CPT2):c.495A>T (p.Thr165=) rs1057523519
NM_000098.3(CPT2):c.507C>G (p.Gly169=) rs769316736
NM_000098.3(CPT2):c.509_510delinsGC (p.Leu170Arg) rs1553169607
NM_000098.3(CPT2):c.519A>G (p.Pro173=)
NM_000098.3(CPT2):c.520G>C (p.Glu174Gln) rs28936674
NM_000098.3(CPT2):c.520G>T (p.Glu174Ter) rs28936674
NM_000098.3(CPT2):c.522del (p.Val175fs) rs2100271968
NM_000098.3(CPT2):c.525G>A (p.Val175=)
NM_000098.3(CPT2):c.531C>T (p.His177=) rs1446192074
NM_000098.3(CPT2):c.532T>C (p.Leu178=)
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000098.3(CPT2):c.537C>T (p.Asn179=) rs1378193193
NM_000098.3(CPT2):c.538C>A (p.Pro180Thr)
NM_000098.3(CPT2):c.554C>G (p.Thr185Ser) rs1645413073
NM_000098.3(CPT2):c.555T>C (p.Thr185=) rs2100272046
NM_000098.3(CPT2):c.556_557del (p.Ile186fs)
NM_000098.3(CPT2):c.558C>T (p.Ile186=) rs1044393692
NM_000098.3(CPT2):c.560C>T (p.Thr187Ile) rs2100272068
NM_000098.3(CPT2):c.564C>T (p.Phe188=)
NM_000098.3(CPT2):c.573C>T (p.Leu191=) rs2100272098
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000098.3(CPT2):c.578G>A (p.Arg193His) rs765824169
NM_000098.3(CPT2):c.583G>C (p.Val195Leu) rs2100272135
NM_000098.3(CPT2):c.584T>C (p.Val195Ala) rs2100272140
NM_000098.3(CPT2):c.584T>G (p.Val195Gly) rs2100272140
NM_000098.3(CPT2):c.585del (p.Pro196fs) rs1645413342
NM_000098.3(CPT2):c.588T>G (p.Pro196=) rs140853350
NM_000098.3(CPT2):c.594T>C (p.Ser198=)
NM_000098.3(CPT2):c.597G>A (p.Leu199=) rs2100272173
NM_000098.3(CPT2):c.599C>G (p.Ser200Cys) rs2100272178
NM_000098.3(CPT2):c.600C>T (p.Ser200=)
NM_000098.3(CPT2):c.602G>A (p.Trp201Ter)
NM_000098.3(CPT2):c.602G>T (p.Trp201Leu) rs1401450508
NM_000098.3(CPT2):c.604T>A (p.Tyr202Asn) rs1645413493
NM_000098.3(CPT2):c.605A>G (p.Tyr202Cys)
NM_000098.3(CPT2):c.606T>C (p.Tyr202=) rs755830520
NM_000098.3(CPT2):c.612C>T (p.Ala204=) rs1572384875
NM_000098.3(CPT2):c.612del (p.Tyr205fs)
NM_000098.3(CPT2):c.624T>C (p.Asn208=) rs748844820
NM_000098.3(CPT2):c.627_630dup (p.Pro211fs) rs1553169629
NM_000098.3(CPT2):c.633C>A (p.Pro211=) rs201622710
NM_000098.3(CPT2):c.633C>T (p.Pro211=) rs201622710
NM_000098.3(CPT2):c.634C>G (p.Leu212Val) rs747845465
NM_000098.3(CPT2):c.638A>C (p.Asp213Ala)
NM_000098.3(CPT2):c.638A>G (p.Asp213Gly) rs74315300
NM_000098.3(CPT2):c.641T>C (p.Met214Thr) rs515726174
NM_000098.3(CPT2):c.646C>T (p.Gln216Ter)
NM_000098.3(CPT2):c.650A>G (p.Tyr217Cys) rs1557717264
NM_000098.3(CPT2):c.652T>C (p.Phe218Leu)
NM_000098.3(CPT2):c.657G>T (p.Arg219=) rs773236568
NM_000098.3(CPT2):c.663C>A (p.Phe221Leu) rs2100272366
NM_000098.3(CPT2):c.666C>G (p.Asn222Lys)
NM_000098.3(CPT2):c.669_673del (p.Thr224fs) rs1645414208
NM_000098.3(CPT2):c.670del (p.Thr224fs) rs762366252
NM_000098.3(CPT2):c.671C>G (p.Thr224Ser) rs1645414299
NM_000098.3(CPT2):c.672T>C (p.Thr224=)
NM_000098.3(CPT2):c.674_677dup (p.Pro227fs)
NM_000098.3(CPT2):c.676T>C (p.Leu226=)
NM_000098.3(CPT2):c.681C>T (p.Pro227=)
NM_000098.3(CPT2):c.683A>G (p.Lys228Arg) rs886046409
NM_000098.3(CPT2):c.685C>T (p.Pro229Ser)
NM_000098.3(CPT2):c.688A>C (p.Ser230Arg) rs1356873155
NM_000098.3(CPT2):c.690T>C (p.Ser230=) rs2100272461
NM_000098.3(CPT2):c.693G>A (p.Arg231=)
NM_000098.3(CPT2):c.705C>G (p.Phe235Leu) rs1156707548
NM_000098.3(CPT2):c.705C>T (p.Phe235=) rs1156707548
NM_000098.3(CPT2):c.707C>T (p.Thr236Ile) rs1645414982
NM_000098.3(CPT2):c.711T>C (p.Asp237=)
NM_000098.3(CPT2):c.714C>T (p.Asp238=)
NM_000098.3(CPT2):c.719C>T (p.Ala240Val) rs796051944
NM_000098.3(CPT2):c.721A>T (p.Arg241Ter) rs200252755
NM_000098.3(CPT2):c.723A>G (p.Arg241=)
NM_000098.3(CPT2):c.725_726del (p.His242fs) rs1238901632
NM_000098.3(CPT2):c.726C>T (p.His242=) rs1389247990
NM_000098.3(CPT2):c.726CCT[1] (p.Leu244del) rs1645415258
NM_000098.3(CPT2):c.727C>T (p.Leu243Phe) rs1421522050
NM_000098.3(CPT2):c.736C>T (p.Leu246=) rs2100272590
NM_000098.3(CPT2):c.745G>T (p.Gly249Ter) rs2100272595
NM_000098.3(CPT2):c.747A>G (p.Gly249=) rs752139090
NM_000098.3(CPT2):c.747_748insTT (p.Asn250fs) rs2100272626
NM_000098.3(CPT2):c.748_749del (p.Asn250fs) rs1187631754
NM_000098.3(CPT2):c.754T>C (p.Tyr252His) rs777614326
NM_000098.3(CPT2):c.754del (p.Tyr252fs)
NM_000098.3(CPT2):c.755A>T (p.Tyr252Phe) rs1282285790
NM_000098.3(CPT2):c.763G>C (p.Asp255His)
NM_000098.3(CPT2):c.764A>T (p.Asp255Val)
NM_000098.3(CPT2):c.766G>A (p.Val256Ile)
NM_000098.3(CPT2):c.767T>C (p.Val256Ala) rs373918498
NM_000098.3(CPT2):c.768C>T (p.Val256=)
NM_000098.3(CPT2):c.769C>T (p.Leu257=)
NM_000098.3(CPT2):c.771G>T (p.Leu257=)
NM_000098.3(CPT2):c.777A>G (p.Gln259=)
NM_000098.3(CPT2):c.783G>A (p.Gly261=)
NM_000098.3(CPT2):c.786C>T (p.Asn262=) rs2100272707
NM_000098.3(CPT2):c.790G>T (p.Val264Leu) rs1645415883
NM_000098.3(CPT2):c.790del (p.Ile263_Val264insTer)
NM_000098.3(CPT2):c.792G>A (p.Val264=)
NM_000098.3(CPT2):c.792G>T (p.Val264=) rs2100272728
NM_000098.3(CPT2):c.794G>A (p.Ser265Asn) rs763502641
NM_000098.3(CPT2):c.795C>T (p.Ser265=)
NM_000098.3(CPT2):c.797C>T (p.Pro266Leu) rs2100272740
NM_000098.3(CPT2):c.798dup (p.Ser267fs) rs2100272735
NM_000098.3(CPT2):c.799T>C (p.Ser267Pro) rs1645415950
NM_000098.3(CPT2):c.801G>T (p.Ser267=) rs762195160
NM_000098.3(CPT2):c.805A>C (p.Ile269Leu)
NM_000098.3(CPT2):c.808C>T (p.Gln270Ter) rs1645416037
NM_000098.3(CPT2):c.809A>T (p.Gln270Leu)
NM_000098.3(CPT2):c.810G>A (p.Gln270=)
NM_000098.3(CPT2):c.816T>C (p.His272=) rs2100272780
NM_000098.3(CPT2):c.819G>A (p.Leu273=)
NM_000098.3(CPT2):c.819G>T (p.Leu273=)
NM_000098.3(CPT2):c.821A>G (p.Lys274Arg)
NM_000098.3(CPT2):c.822G>A (p.Lys274=)
NM_000098.3(CPT2):c.827T>C (p.Ile276Thr)
NM_000098.3(CPT2):c.831C>T (p.Leu277=)
NM_000098.3(CPT2):c.834dup (p.Asp279fs) rs2100272823
NM_000098.3(CPT2):c.835G>A (p.Asp279Asn)
NM_000098.3(CPT2):c.836_839del (p.Asp279fs) rs1645416288
NM_000098.3(CPT2):c.837C>T (p.Asp279=) rs2100272829
NM_000098.3(CPT2):c.839G>C (p.Ser280Thr) rs2100272838
NM_000098.3(CPT2):c.847G>A (p.Ala283Thr)
NM_000098.3(CPT2):c.851C>T (p.Pro284Leu) rs2100272880
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000098.3(CPT2):c.861C>T (p.Pro287=) rs1438692877
NM_000098.3(CPT2):c.876C>G (p.Thr292=) rs1179793805
NM_000098.3(CPT2):c.878G>A (p.Ser293Asn)
NM_000098.3(CPT2):c.878G>T (p.Ser293Ile)
NM_000098.3(CPT2):c.879T>C (p.Ser293=)
NM_000098.3(CPT2):c.880G>A (p.Glu294Lys)
NM_000098.3(CPT2):c.886C>G (p.Arg296Gly)
NM_000098.3(CPT2):c.887G>C (p.Arg296Pro) rs764849762
NM_000098.3(CPT2):c.888A>G (p.Arg296=) rs2100272986
NM_000098.3(CPT2):c.891C>T (p.Asp297=)
NM_000098.3(CPT2):c.896G>A (p.Trp299Ter) rs757881397
NM_000098.3(CPT2):c.897G>C (p.Trp299Cys) rs1301349162
NM_000098.3(CPT2):c.906C>T (p.Leu302=)
NM_000098.3(CPT2):c.907A>C (p.Arg303=)
NM_000098.3(CPT2):c.913_1172del (p.Lys305fs)
NM_000098.3(CPT2):c.924T>C (p.Ser308=) rs756328565
NM_000098.3(CPT2):c.925A>G (p.Ser309Gly) rs1645417252
NM_000098.3(CPT2):c.927T>A (p.Ser309Arg) rs780168485
NM_000098.3(CPT2):c.930C>A (p.Gly310=) rs371971257
NM_000098.3(CPT2):c.933T>C (p.Asn311=)
NM_000098.3(CPT2):c.939G>A (p.Glu313=)
NM_000098.3(CPT2):c.940A>C (p.Ser314Arg) rs748646501
NM_000098.3(CPT2):c.943C>T (p.Leu315=) rs772621468
NM_000098.3(CPT2):c.948G>T (p.Arg316Ser) rs1294086660
NM_000098.3(CPT2):c.953T>G (p.Val318Gly) rs727503888
NM_000098.3(CPT2):c.954G>A (p.Val318=) rs2100273164
NM_000098.3(CPT2):c.955G>C (p.Asp319His) rs775030648
NM_000098.3(CPT2):c.960G>C (p.Ser320=)
NM_000098.3(CPT2):c.963A>G (p.Ala321=) rs1438452698
NM_000098.3(CPT2):c.963del (p.Val322fs)
NM_000098.3(CPT2):c.966G>A (p.Val322=) rs986941002
NM_000098.3(CPT2):c.975C>A (p.Leu325=)
NM_000098.3(CPT2):c.975_976del (p.Cys326fs)
NM_000098.3(CPT2):c.978C>T (p.Cys326=) rs1488175615
NM_000098.3(CPT2):c.980_982delinsATC (p.Leu327_Asp328delinsHisHis)
NM_000098.3(CPT2):c.983A>G (p.Asp328Gly) rs515726175
NM_000098.3(CPT2):c.989del (p.Phe330fs) rs1553169716
NM_000098.3(CPT2):c.989dup (p.Ile332fs) rs1553169716
NM_000098.3(CPT2):c.990C>G (p.Phe330Leu)
NM_000098.3(CPT2):c.991C>G (p.Pro331Ala)
NM_000098.3(CPT2):c.993C>A (p.Pro331=) rs2100273254
NM_000098.3(CPT2):c.994A>G (p.Ile332Val)
NM_000098.3(CPT2):c.996T>C (p.Ile332=) rs1645418009

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