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
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NM_000098.3(CPT2):c.954G>A (p.Val318=)
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rs2100273164
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NM_000098.3(CPT2):c.955G>C (p.Asp319His)
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rs775030648
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NM_000098.3(CPT2):c.960G>C (p.Ser320=)
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NM_000098.3(CPT2):c.963A>G (p.Ala321=)
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rs1438452698
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NM_000098.3(CPT2):c.963del (p.Val322fs)
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NM_000098.3(CPT2):c.966G>A (p.Val322=)
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rs986941002
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NM_000098.3(CPT2):c.975C>A (p.Leu325=)
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NM_000098.3(CPT2):c.975_976del (p.Cys326fs)
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NM_000098.3(CPT2):c.978C>T (p.Cys326=)
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rs1488175615
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NM_000098.3(CPT2):c.980_982delinsATC (p.Leu327_Asp328delinsHisHis)
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NM_000098.3(CPT2):c.983A>G (p.Asp328Gly)
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rs515726175
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NM_000098.3(CPT2):c.989del (p.Phe330fs)
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rs1553169716
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NM_000098.3(CPT2):c.989dup (p.Ile332fs)
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rs1553169716
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NM_000098.3(CPT2):c.990C>G (p.Phe330Leu)
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NM_000098.3(CPT2):c.991C>G (p.Pro331Ala)
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NM_000098.3(CPT2):c.993C>A (p.Pro331=)
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rs2100273254
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NM_000098.3(CPT2):c.994A>G (p.Ile332Val)
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NM_000098.3(CPT2):c.996T>C (p.Ile332=)
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rs1645418009
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