ClinVar Miner

List of variants reported as uncertain significance for carnitine palmitoyltransferase II deficiency by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 293
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1342T>C (p.Phe448Leu) rs74315297 0.00021
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
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.850C>T (p.Pro284Ser) rs201163382 0.00009
NM_000098.3(CPT2):c.1232C>T (p.Thr411Met) rs375957043 0.00006
NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) rs199996641 0.00006
NM_000098.3(CPT2):c.853G>A (p.Glu285Lys) rs200906458 0.00006
NM_000098.3(CPT2):c.1633G>A (p.Glu545Lys) rs774755571 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.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.455C>G (p.Ala152Gly) rs755331246 0.00004
NM_000098.3(CPT2):c.62C>A (p.Pro21His) rs1399429530 0.00004
NM_000098.3(CPT2):c.65G>A (p.Ser22Asn) rs1057287341 0.00004
NM_000098.3(CPT2):c.800C>T (p.Ser267Leu) rs751888992 0.00004
NM_000098.3(CPT2):c.99G>C (p.Gln33His) rs1196469539 0.00004
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.1559C>T (p.Pro520Leu) rs776754218 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.35G>A (p.Arg12Gln) rs1044059386 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.67C>G (p.Arg23Gly) rs1329055231 0.00003
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.1313T>A (p.Met438Lys) rs377616144 0.00002
NM_000098.3(CPT2):c.1448T>C (p.Val483Ala) rs1324631593 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.1661G>A (p.Arg554Gln) rs367796030 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+6T>C rs375378513 0.00002
NM_000098.3(CPT2):c.531C>A (p.His177Gln) rs1446192074 0.00002
NM_000098.3(CPT2):c.53C>T (p.Pro18Leu) rs1176581459 0.00002
NM_000098.3(CPT2):c.556A>C (p.Ile186Leu) rs377737941 0.00002
NM_000098.3(CPT2):c.751T>G (p.Phe251Val) rs771966581 0.00002
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.1124G>T (p.Gly375Val) rs772843417 0.00001
NM_000098.3(CPT2):c.1145G>C (p.Arg382Thr) rs515726176 0.00001
NM_000098.3(CPT2):c.1225A>G (p.Thr409Ala) rs772572668 0.00001
NM_000098.3(CPT2):c.122C>T (p.Pro41Leu) rs760976212 0.00001
NM_000098.3(CPT2):c.1247A>G (p.Asn416Ser) rs201008705 0.00001
NM_000098.3(CPT2):c.130C>T (p.His44Tyr) rs995114769 0.00001
NM_000098.3(CPT2):c.1327A>G (p.Ile443Val) rs774644103 0.00001
NM_000098.3(CPT2):c.1376A>T (p.Gln459Leu) rs1335909876 0.00001
NM_000098.3(CPT2):c.1408G>A (p.Ala470Thr) rs756326862 0.00001
NM_000098.3(CPT2):c.143G>C (p.Ser48Thr) rs1250983045 0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His) rs776645157 0.00001
NM_000098.3(CPT2):c.1508G>A (p.Arg503His) rs750079911 0.00001
NM_000098.3(CPT2):c.1586A>C (p.Gln529Pro) rs1210368088 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.1750C>T (p.His584Tyr) rs781418379 0.00001
NM_000098.3(CPT2):c.1850A>G (p.His617Arg) rs1359602721 0.00001
NM_000098.3(CPT2):c.1871A>G (p.Asn624Ser) rs1268248169 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.244C>G (p.Gln82Glu) rs1572380797 0.00001
NM_000098.3(CPT2):c.314A>G (p.Gln105Arg) rs753737707 0.00001
NM_000098.3(CPT2):c.382G>A (p.Val128Ile) rs769160926 0.00001
NM_000098.3(CPT2):c.413A>G (p.Asn138Ser) rs1488632092 0.00001
NM_000098.3(CPT2):c.46G>T (p.Val16Phe) rs1469396631 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.552C>G (p.Asp184Glu) rs1236021604 0.00001
NM_000098.3(CPT2):c.587C>T (p.Pro196Leu) rs758823353 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.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.788T>C (p.Ile263Thr) rs775793760 0.00001
NM_000098.3(CPT2):c.789T>G (p.Ile263Met) rs1557717394 0.00001
NM_000098.3(CPT2):c.7C>T (p.Pro3Ser) rs1645324758 0.00001
NM_000098.3(CPT2):c.833C>T (p.Ser278Leu) rs758337938 0.00001
NM_000098.3(CPT2):c.85T>G (p.Ser29Ala) rs1342928062 0.00001
NM_000098.3(CPT2):c.903G>T (p.Glu301Asp) rs764076288 0.00001
NM_000098.3(CPT2):c.959C>T (p.Ser320Leu) rs763703786 0.00001
NM_000098.3(CPT2):c.984T>A (p.Asp328Glu) rs1408974808 0.00001
NC_000001.10:g.(?_53662616)_(53662787_?)dup
NC_000001.10:g.(?_53662616)_(53679267_?)dup
NC_000001.11:g.(?_53196934)_(53213605_?)dup
NC_000001.11:g.(?_53200699)_(53200819_?)del
NM_000098.3(CPT2):c.1048C>G (p.Arg350Gly) rs151003641
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.1061A>C (p.Lys354Thr) rs1645419714
NM_000098.3(CPT2):c.109C>T (p.Arg37Cys) rs1645327746
NM_000098.3(CPT2):c.1115_1116delinsTT (p.His372Leu) rs2100273557
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.1129G>A (p.Gly377Ser)
NM_000098.3(CPT2):c.1138G>C (p.Val380Leu)
NM_000098.3(CPT2):c.1157A>C (p.Glu386Ala) rs1468591138
NM_000098.3(CPT2):c.1174A>G (p.Thr392Ala) rs2100273738
NM_000098.3(CPT2):c.1178A>G (p.Gln393Arg)
NM_000098.3(CPT2):c.1190T>A (p.Val397Asp) rs2100273766
NM_000098.3(CPT2):c.1219G>A (p.Asp407Asn)
NM_000098.3(CPT2):c.122C>A (p.Pro41His) rs760976212
NM_000098.3(CPT2):c.1243C>T (p.Leu415Phe)
NM_000098.3(CPT2):c.1251C>G (p.Phe417Leu)
NM_000098.3(CPT2):c.1259C>G (p.Thr420Ser)
NM_000098.3(CPT2):c.1289C>G (p.Ala430Gly)
NM_000098.3(CPT2):c.1294G>A (p.Glu432Lys) rs1645422133
NM_000098.3(CPT2):c.1304A>C (p.Asp435Ala)
NM_000098.3(CPT2):c.1313T>C (p.Met438Thr) rs377616144
NM_000098.3(CPT2):c.131A>G (p.His44Arg)
NM_000098.3(CPT2):c.131_133delinsCCC (p.His44_Tyr45delinsProHis)
NM_000098.3(CPT2):c.1321C>T (p.Leu441Phe) rs1285817135
NM_000098.3(CPT2):c.1333T>C (p.Cys445Arg) rs1557718090
NM_000098.3(CPT2):c.1337T>A (p.Val446Asp)
NM_000098.3(CPT2):c.133T>C (p.Tyr45His) rs1321783611
NM_000098.3(CPT2):c.1364T>A (p.Phe455Tyr) rs1645423118
NM_000098.3(CPT2):c.1393G>A (p.Ala465Thr)
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.1424T>A (p.Phe475Tyr) rs992811256
NM_000098.3(CPT2):c.1430G>A (p.Arg477Gln)
NM_000098.3(CPT2):c.143G>A (p.Ser48Asn) rs1250983045
NM_000098.3(CPT2):c.144C>A (p.Ser48Arg) rs2100255084
NM_000098.3(CPT2):c.144C>G (p.Ser48Arg)
NM_000098.3(CPT2):c.1475C>T (p.Ala492Val)
NM_000098.3(CPT2):c.1495A>G (p.Thr499Ala)
NM_000098.3(CPT2):c.1520T>G (p.Val507Gly) rs1228724988
NM_000098.3(CPT2):c.1523A>G (p.Tyr508Cys)
NM_000098.3(CPT2):c.1528A>G (p.Lys510Glu) rs1645425523
NM_000098.3(CPT2):c.152G>T (p.Arg51Met)
NM_000098.3(CPT2):c.1535G>A (p.Cys512Tyr) rs1490239014
NM_000098.3(CPT2):c.1538C>A (p.Ser513Tyr)
NM_000098.3(CPT2):c.1555G>A (p.Glu519Lys) rs1458948855
NM_000098.3(CPT2):c.155T>C (p.Leu52Pro)
NM_000098.3(CPT2):c.1591A>T (p.Met531Leu)
NM_000098.3(CPT2):c.1592T>C (p.Met531Thr)
NM_000098.3(CPT2):c.1602G>C (p.Glu534Asp)
NM_000098.3(CPT2):c.1609A>G (p.Lys537Glu) rs1645426515
NM_000098.3(CPT2):c.163C>T (p.Pro55Ser)
NM_000098.3(CPT2):c.1646-2A>G
NM_000098.3(CPT2):c.164C>G (p.Pro55Arg) rs2100259793
NM_000098.3(CPT2):c.1666T>G (p.Leu556Val)
NM_000098.3(CPT2):c.1670T>A (p.Phe557Tyr) rs2100278300
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.1702A>G (p.Ile568Val)
NM_000098.3(CPT2):c.170T>C (p.Leu57Pro) rs2100259802
NM_000098.3(CPT2):c.1715A>G (p.Glu572Gly) rs1183489679
NM_000098.3(CPT2):c.1752C>A (p.His584Gln) rs1645442414
NM_000098.3(CPT2):c.1783C>T (p.Pro595Ser)
NM_000098.3(CPT2):c.1786G>A (p.Ala596Thr)
NM_000098.3(CPT2):c.1802G>A (p.Gly601Asp)
NM_000098.3(CPT2):c.1802G>T (p.Gly601Val) rs2100278707
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser) rs1645443275
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.1838G>C (p.Gly613Ala) rs1270645489
NM_000098.3(CPT2):c.1849C>T (p.His617Tyr)
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.1874T>C (p.Val625Ala)
NM_000098.3(CPT2):c.1886C>A (p.Pro629Gln) rs767530116
NM_000098.3(CPT2):c.1894A>G (p.Asn632Asp)
NM_000098.3(CPT2):c.1895A>G (p.Asn632Ser)
NM_000098.3(CPT2):c.1897G>A (p.Ala633Thr)
NM_000098.3(CPT2):c.1936G>A (p.Asp646Asn) rs369202713
NM_000098.3(CPT2):c.1954G>A (p.Glu652Lys) rs766154734
NM_000098.3(CPT2):c.1963T>C (p.Ser655Pro)
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.242A>T (p.Glu81Val) rs2100261773
NM_000098.3(CPT2):c.253A>C (p.Lys85Gln) rs2100261799
NM_000098.3(CPT2):c.268G>A (p.Gly90Arg)
NM_000098.3(CPT2):c.26C>T (p.Ala9Val) rs1645324918
NM_000098.3(CPT2):c.29G>C (p.Trp10Ser)
NM_000098.3(CPT2):c.30G>T (p.Trp10Cys)
NM_000098.3(CPT2):c.340+5_340+14del rs2100261965
NM_000098.3(CPT2):c.343C>T (p.Pro115Ser)
NM_000098.3(CPT2):c.344C>G (p.Pro115Arg)
NM_000098.3(CPT2):c.34C>T (p.Arg12Trp) rs1270720547
NM_000098.3(CPT2):c.368C>G (p.Ala123Gly)
NM_000098.3(CPT2):c.377C>G (p.Ser126Cys) rs750572726
NM_000098.3(CPT2):c.37_39del (p.Gly13del) rs1553168847
NM_000098.3(CPT2):c.398C>T (p.Pro133Leu) rs1645411615
NM_000098.3(CPT2):c.407C>T (p.Ala136Val)
NM_000098.3(CPT2):c.40C>T (p.Pro14Ser) rs2100254731
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.436A>G (p.Asn146Asp)
NM_000098.3(CPT2):c.443A>G (p.Gln148Arg)
NM_000098.3(CPT2):c.444G>C (p.Gln148His)
NM_000098.3(CPT2):c.448A>C (p.Thr150Pro) rs141505320
NM_000098.3(CPT2):c.448A>T (p.Thr150Ser) rs141505320
NM_000098.3(CPT2):c.454G>T (p.Ala152Ser)
NM_000098.3(CPT2):c.469G>A (p.Val157Ile)
NM_000098.3(CPT2):c.482G>A (p.Arg161Gln)
NM_000098.3(CPT2):c.509_510delinsGC (p.Leu170Arg) rs1553169607
NM_000098.3(CPT2):c.520G>C (p.Glu174Gln) rs28936674
NM_000098.3(CPT2):c.538C>A (p.Pro180Thr)
NM_000098.3(CPT2):c.554C>G (p.Thr185Ser) rs1645413073
NM_000098.3(CPT2):c.560C>T (p.Thr187Ile) rs2100272068
NM_000098.3(CPT2):c.56G>A (p.Gly19Glu) rs938409577
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.599C>G (p.Ser200Cys) rs2100272178
NM_000098.3(CPT2):c.59C>T (p.Ala20Val)
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.634C>G (p.Leu212Val) rs747845465
NM_000098.3(CPT2):c.638A>C (p.Asp213Ala)
NM_000098.3(CPT2):c.650A>G (p.Tyr217Cys) rs1557717264
NM_000098.3(CPT2):c.652T>C (p.Phe218Leu)
NM_000098.3(CPT2):c.65G>T (p.Ser22Ile)
NM_000098.3(CPT2):c.663C>A (p.Phe221Leu) rs2100272366
NM_000098.3(CPT2):c.666C>G (p.Asn222Lys)
NM_000098.3(CPT2):c.671C>G (p.Thr224Ser) rs1645414299
NM_000098.3(CPT2):c.685C>T (p.Pro229Ser)
NM_000098.3(CPT2):c.688A>C (p.Ser230Arg) rs1356873155
NM_000098.3(CPT2):c.705C>G (p.Phe235Leu) rs1156707548
NM_000098.3(CPT2):c.707C>T (p.Thr236Ile) rs1645414982
NM_000098.3(CPT2):c.719C>T (p.Ala240Val) rs796051944
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.74T>C (p.Leu25Pro) rs2100254861
NM_000098.3(CPT2):c.754T>C (p.Tyr252His) rs777614326
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.790G>T (p.Val264Leu) rs1645415883
NM_000098.3(CPT2):c.794G>A (p.Ser265Asn) rs763502641
NM_000098.3(CPT2):c.797C>T (p.Pro266Leu) rs2100272740
NM_000098.3(CPT2):c.799T>C (p.Ser267Pro) rs1645415950
NM_000098.3(CPT2):c.805A>C (p.Ile269Leu)
NM_000098.3(CPT2):c.809A>T (p.Gln270Leu)
NM_000098.3(CPT2):c.821A>G (p.Lys274Arg)
NM_000098.3(CPT2):c.827T>C (p.Ile276Thr)
NM_000098.3(CPT2):c.82G>C (p.Gly28Arg)
NM_000098.3(CPT2):c.835G>A (p.Asp279Asn)
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.86C>G (p.Ser29Cys)
NM_000098.3(CPT2):c.878G>A (p.Ser293Asn)
NM_000098.3(CPT2):c.878G>T (p.Ser293Ile)
NM_000098.3(CPT2):c.880G>A (p.Glu294Lys)
NM_000098.3(CPT2):c.88G>A (p.Gly30Arg) rs937940197
NM_000098.3(CPT2):c.88G>C (p.Gly30Arg)
NM_000098.3(CPT2):c.88G>T (p.Gly30Trp) rs937940197
NM_000098.3(CPT2):c.897G>C (p.Trp299Cys) rs1301349162
NM_000098.3(CPT2):c.89G>A (p.Gly30Glu) rs1572378353
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.940A>C (p.Ser314Arg) rs748646501
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.955G>C (p.Asp319His) rs775030648
NM_000098.3(CPT2):c.980_982delinsATC (p.Leu327_Asp328delinsHisHis)
NM_000098.3(CPT2):c.990C>G (p.Phe330Leu)
NM_000098.3(CPT2):c.991C>G (p.Pro331Ala)
NM_000098.3(CPT2):c.994A>G (p.Ile332Val)

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