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
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NM_000098.3(CPT2):c.1849C>T (p.His617Tyr)
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|
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NM_000098.3(CPT2):c.1861A>C (p.Ile621Leu)
|
rs1572387467
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NM_000098.3(CPT2):c.1862T>C (p.Ile621Thr)
|
rs1645444056
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NM_000098.3(CPT2):c.1865G>A (p.Gly622Asp)
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|
NM_000098.3(CPT2):c.1874T>C (p.Val625Ala)
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NM_000098.3(CPT2):c.1886C>A (p.Pro629Gln)
|
rs767530116
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NM_000098.3(CPT2):c.1894A>G (p.Asn632Asp)
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|
|
NM_000098.3(CPT2):c.1895A>G (p.Asn632Ser)
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NM_000098.3(CPT2):c.1897G>A (p.Ala633Thr)
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NM_000098.3(CPT2):c.1936G>A (p.Asp646Asn)
|
rs369202713
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NM_000098.3(CPT2):c.1954G>A (p.Glu652Lys)
|
rs766154734
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NM_000098.3(CPT2):c.1963T>C (p.Ser655Pro)
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NM_000098.3(CPT2):c.196A>C (p.Ser66Arg)
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NM_000098.3(CPT2):c.196A>G (p.Ser66Gly)
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NM_000098.3(CPT2):c.1972A>C (p.Ser658Arg)
|
rs1553170037
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NM_000098.3(CPT2):c.1972dup (p.Ser658fs)
|
rs1572387642
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NM_000098.3(CPT2):c.242A>T (p.Glu81Val)
|
rs2100261773
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NM_000098.3(CPT2):c.253A>C (p.Lys85Gln)
|
rs2100261799
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NM_000098.3(CPT2):c.268G>A (p.Gly90Arg)
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|
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NM_000098.3(CPT2):c.26C>T (p.Ala9Val)
|
rs1645324918
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NM_000098.3(CPT2):c.29G>C (p.Trp10Ser)
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NM_000098.3(CPT2):c.30G>T (p.Trp10Cys)
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NM_000098.3(CPT2):c.340+5_340+14del
|
rs2100261965
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NM_000098.3(CPT2):c.343C>T (p.Pro115Ser)
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NM_000098.3(CPT2):c.344C>G (p.Pro115Arg)
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NM_000098.3(CPT2):c.34C>T (p.Arg12Trp)
|
rs1270720547
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NM_000098.3(CPT2):c.368C>G (p.Ala123Gly)
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|
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NM_000098.3(CPT2):c.377C>G (p.Ser126Cys)
|
rs750572726
|
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NM_000098.3(CPT2):c.37_39del (p.Gly13del)
|
rs1553168847
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NM_000098.3(CPT2):c.398C>T (p.Pro133Leu)
|
rs1645411615
|
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NM_000098.3(CPT2):c.407C>T (p.Ala136Val)
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NM_000098.3(CPT2):c.40C>T (p.Pro14Ser)
|
rs2100254731
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NM_000098.3(CPT2):c.416C>G (p.Pro139Arg)
|
rs369475478
|
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NM_000098.3(CPT2):c.430G>C (p.Glu144Gln)
|
rs2100271761
|
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NM_000098.3(CPT2):c.436A>G (p.Asn146Asp)
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NM_000098.3(CPT2):c.443A>G (p.Gln148Arg)
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NM_000098.3(CPT2):c.444G>C (p.Gln148His)
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NM_000098.3(CPT2):c.448A>C (p.Thr150Pro)
|
rs141505320
|
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NM_000098.3(CPT2):c.448A>T (p.Thr150Ser)
|
rs141505320
|
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NM_000098.3(CPT2):c.454G>T (p.Ala152Ser)
|
|
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NM_000098.3(CPT2):c.469G>A (p.Val157Ile)
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NM_000098.3(CPT2):c.482G>A (p.Arg161Gln)
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NM_000098.3(CPT2):c.509_510delinsGC (p.Leu170Arg)
|
rs1553169607
|
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NM_000098.3(CPT2):c.520G>C (p.Glu174Gln)
|
rs28936674
|
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NM_000098.3(CPT2):c.538C>A (p.Pro180Thr)
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|
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NM_000098.3(CPT2):c.554C>G (p.Thr185Ser)
|
rs1645413073
|
|
NM_000098.3(CPT2):c.560C>T (p.Thr187Ile)
|
rs2100272068
|
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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)
|
|
|