NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)
|
rs765423779
|
0.00005
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)
|
rs771025937
|
0.00004
|
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)
|
rs200117742
|
0.00004
|
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu)
|
rs778514103
|
0.00004
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)
|
rs118204018
|
0.00003
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala)
|
rs372684079
|
0.00003
|
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)
|
rs779458466
|
0.00002
|
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln)
|
rs772014118
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)
|
rs138058572
|
0.00002
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)
|
rs1189763523
|
0.00002
|
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)
|
rs1231343685
|
0.00002
|
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)
|
rs766192888
|
0.00002
|
NM_000018.4(ACADVL):c.1000A>G (p.Met334Val)
|
rs1487767890
|
0.00001
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)
|
rs1567565733
|
0.00001
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)
|
rs1057523504
|
0.00001
|
NM_000018.4(ACADVL):c.1183-15A>G
|
rs765390290
|
0.00001
|
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)
|
rs149116708
|
0.00001
|
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)
|
rs1384021857
|
0.00001
|
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)
|
rs1451455641
|
0.00001
|
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)
|
rs765356942
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)
|
rs1175359422
|
0.00001
|
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)
|
rs118204017
|
0.00001
|
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)
|
rs766742117
|
0.00001
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
0.00001
|
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)
|
rs398123083
|
0.00001
|
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)
|
rs200771970
|
0.00001
|
NM_000018.4(ACADVL):c.1533-2A>C
|
rs996348255
|
0.00001
|
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)
|
rs1085307648
|
0.00001
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)
|
rs1057520088
|
0.00001
|
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro)
|
rs1416443472
|
0.00001
|
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)
|
rs1458941582
|
0.00001
|
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)
|
rs1057516369
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)
|
rs763630981
|
0.00001
|
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)
|
rs371407903
|
0.00001
|
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)
|
rs398123090
|
0.00001
|
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)
|
rs748329498
|
0.00001
|
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)
|
rs140629318
|
0.00001
|
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)
|
rs746860401
|
0.00001
|
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)
|
rs767063791
|
0.00001
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)
|
rs786204536
|
0.00001
|
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)
|
rs749159573
|
0.00001
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
NM_000018.4(ACADVL):c.770del (p.Asp257fs)
|
rs2071264706
|
0.00001
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
NM_000018.4(ACADVL):c.856A>G (p.Arg286Gly)
|
rs751556332
|
0.00001
|
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)
|
rs200573371
|
0.00001
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)
|
rs771247610
|
0.00001
|
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg)
|
rs142765230
|
0.00001
|
NM_000018.4(ACADVL):c.952C>T (p.Pro318Ser)
|
rs762653370
|
0.00001
|
NM_000018.3(ACADVL):c.1375dup
|
rs796051916
|
|
NM_000018.3(ACADVL):c.625del
|
rs2071251239
|
|
NM_000018.4(ACADVL):c.1001T>C (p.Met334Thr)
|
|
|
NM_000018.4(ACADVL):c.1002G>A (p.Met334Ile)
|
|
|
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs)
|
rs1567565643
|
|
NM_000018.4(ACADVL):c.1039del (p.Ala347fs)
|
rs2071295244
|
|
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)
|
rs1555528508
|
|
NM_000018.4(ACADVL):c.1046C>A (p.Ala349Glu)
|
rs1227564457
|
|
NM_000018.4(ACADVL):c.1049G>T (p.Gly350Val)
|
rs1343647718
|
|
NM_000018.4(ACADVL):c.1054A>G (p.Met352Val)
|
|
|
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
|
|
|
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs)
|
rs2071296591
|
|
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs)
|
rs1402646371
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)
|
|
|
NM_000018.4(ACADVL):c.1073del (p.Lys358fs)
|
|
|
NM_000018.4(ACADVL):c.1077+1G>A
|
rs140989450
|
|
NM_000018.4(ACADVL):c.1077_1077+1del
|
rs2142980883
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
NM_000018.4(ACADVL):c.1078-2A>G
|
rs2142981920
|
|
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)
|
rs1331739604
|
|
NM_000018.4(ACADVL):c.1081G>T (p.Asp361Tyr)
|
|
|
NM_000018.4(ACADVL):c.1096C>G (p.Arg366Gly)
|
rs771874163
|
|
NM_000018.4(ACADVL):c.1097G>C (p.Arg366Pro)
|
|
|
NM_000018.4(ACADVL):c.1097G>T (p.Arg366Leu)
|
|
|
NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs)
|
rs1567566228
|
|
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)
|
rs776063244
|
|
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)
|
rs1057517416
|
|
NM_000018.4(ACADVL):c.1121A>C (p.His374Pro)
|
|
|
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)
|
rs1057517281
|
|
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)
|
rs118204015
|
|
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)
|
rs1281137823
|
|
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
|
|
|
NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter)
|
rs2071316298
|
|
NM_000018.4(ACADVL):c.1182+2T>C
|
rs1555528635
|
|
NM_000018.4(ACADVL):c.1183-1G>A
|
rs1057516818
|
|
NM_000018.4(ACADVL):c.1183-2A>C
|
|
|
NM_000018.4(ACADVL):c.1213G>A (p.Asp405Asn)
|
|
|
NM_000018.4(ACADVL):c.1213G>C (p.Asp405His)
|
|
|
NM_000018.4(ACADVL):c.1226C>G (p.Thr409Arg)
|
rs113994169
|
|
NM_000018.4(ACADVL):c.1234C>T (p.Gln412Ter)
|
|
|
NM_000018.4(ACADVL):c.1234del (p.Gln412fs)
|
|
|
NM_000018.4(ACADVL):c.1238T>C (p.Ile413Thr)
|
|
|
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)
|
rs1597534120
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
NM_000018.4(ACADVL):c.1251del (p.Ser418fs)
|
rs2142984544
|
|
NM_000018.4(ACADVL):c.1269+1G>A
|
rs773401248
|
|
NM_000018.4(ACADVL):c.1274C>T (p.Ala425Val)
|
|
|
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)
|
rs1419478766
|
|
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)
|
rs1057516519
|
|
NM_000018.4(ACADVL):c.1283del (p.Lys428fs)
|
rs1555528745
|
|
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)
|
rs1597534677
|
|
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)
|
rs2071345754
|
|
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)
|
rs2071345821
|
|
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)
|
rs748450834
|
|
NM_000018.4(ACADVL):c.1313G>C (p.Gly438Ala)
|
|
|
NM_000018.4(ACADVL):c.1315G>C (p.Gly439Arg)
|
rs2071346311
|
|
NM_000018.4(ACADVL):c.1315G>T (p.Gly439Cys)
|
rs2071346311
|
|
NM_000018.4(ACADVL):c.1316G>T (p.Gly439Val)
|
rs533055438
|
|
NM_000018.4(ACADVL):c.1316del (p.Gly439fs)
|
rs748077880
|
|
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)
|
rs748077880
|
|
NM_000018.4(ACADVL):c.1317dup (p.Met440fs)
|
rs1567567440
|
|
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
|
|
|
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser)
|
rs2071346777
|
|
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)
|
rs886043236
|
|
NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)
|
rs1597534796
|
|
NM_000018.4(ACADVL):c.1333-2A>T
|
rs1057517280
|
|
NM_000018.4(ACADVL):c.1348C>T (p.Arg450Cys)
|
|
|
NM_000018.4(ACADVL):c.1355dup (p.Arg453fs)
|
rs1057517331
|
|
NM_000018.4(ACADVL):c.1367G>C (p.Arg456Pro)
|
rs794727112
|
|
NM_000018.4(ACADVL):c.1375C>G (p.Arg459Gly)
|
rs766742117
|
|
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro)
|
rs751995154
|
|
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)
|
rs2071355499
|
|
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)
|
rs398123082
|
|
NM_000018.4(ACADVL):c.139-1G>A
|
|
|
NM_000018.4(ACADVL):c.139-1G>C
|
|
|
NM_000018.4(ACADVL):c.139-1G>T
|
rs1597518019
|
|
NM_000018.4(ACADVL):c.139-1_139delinsTT
|
rs2142963941
|
|
NM_000018.4(ACADVL):c.139-2A>G
|
|
|
NM_000018.4(ACADVL):c.139-2A>T
|
|
|
NM_000018.4(ACADVL):c.1409del (p.Leu470fs)
|
rs2071356603
|
|
NM_000018.4(ACADVL):c.1417del (p.Ala473fs)
|
|
|
NM_000018.4(ACADVL):c.1434+2T>G
|
rs1555528804
|
|
NM_000018.4(ACADVL):c.145_146dup (p.Asp50fs)
|
rs1567560601
|
|
NM_000018.4(ACADVL):c.1469C>G (p.Ala490Gly)
|
|
|
NM_000018.4(ACADVL):c.1469C>T (p.Ala490Val)
|
|
|
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del)
|
rs762619071
|
|
NM_000018.4(ACADVL):c.1505del (p.Leu502fs)
|
|
|
NM_000018.4(ACADVL):c.1508del (p.Gly503fs)
|
rs1214222702
|
|
NM_000018.4(ACADVL):c.1519A>G (p.Lys507Glu)
|
|
|
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000018.4(ACADVL):c.1532+1G>A
|
rs727503794
|
|
NM_000018.4(ACADVL):c.1532+2T>C
|
rs111851815
|
|
NM_000018.4(ACADVL):c.1533-2A>G
|
|
|
NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs)
|
rs2071371983
|
|
NM_000018.4(ACADVL):c.1540G>C (p.Gly514Arg)
|
rs370282954
|
|
NM_000018.4(ACADVL):c.1542_1543insA (p.Leu515fs)
|
|
|
NM_000018.4(ACADVL):c.1557del (p.Ser520fs)
|
rs2071373150
|
|
NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter)
|
rs2071146837
|
|
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)
|
rs1060499596
|
|
NM_000018.4(ACADVL):c.1605+2T>A
|
rs1597537351
|
|
NM_000018.4(ACADVL):c.1605+2T>C
|
rs1597537351
|
|
NM_000018.4(ACADVL):c.1606-1G>A
|
rs1057517386
|
|
NM_000018.4(ACADVL):c.1606-2A>C
|
rs113467582
|
|
NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)
|
|
|
NM_000018.4(ACADVL):c.1612del (p.Arg538fs)
|
rs1555528937
|
|
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)
|
rs201350598
|
|
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)
|
rs781613690
|
|
NM_000018.4(ACADVL):c.1619T>C (p.Leu540Pro)
|
|
|
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)
|
rs1131691553
|
|
NM_000018.4(ACADVL):c.1639G>A (p.Val547Met)
|
rs2071384107
|
|
NM_000018.4(ACADVL):c.1678+1G>T
|
|
|
NM_000018.4(ACADVL):c.1678+3_1678+6del
|
rs759135941
|
|
NM_000018.4(ACADVL):c.1679-1G>A
|
|
|
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
|
|
|
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs)
|
rs2071393587
|
|
NM_000018.4(ACADVL):c.1714dup (p.Ala572fs)
|
rs1555529004
|
|
NM_000018.4(ACADVL):c.1723dup (p.Leu575fs)
|
rs2071395312
|
|
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)
|
rs2071395559
|
|
NM_000018.4(ACADVL):c.1730_1740del (p.Ala577fs)
|
rs1057518411
|
|
NM_000018.4(ACADVL):c.1747T>G (p.Ser583Ala)
|
|
|
NM_000018.4(ACADVL):c.1751+1G>A
|
rs1567569262
|
|
NM_000018.4(ACADVL):c.1751+2T>A
|
rs1597539537
|
|
NM_000018.4(ACADVL):c.1751+2T>C
|
rs1597539537
|
|
NM_000018.4(ACADVL):c.1752-2A>G
|
|
|
NM_000018.4(ACADVL):c.1752-2del
|
rs1555529044
|
|
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
|
|
|
NM_000018.4(ACADVL):c.1765del (p.Ser588_Leu589insTer)
|
rs1057516226
|
|
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)
|
rs1555529048
|
|
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)
|
rs796051917
|
|
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)
|
rs2142990894
|
|
NM_000018.4(ACADVL):c.1816T>C (p.Trp606Arg)
|
|
|
NM_000018.4(ACADVL):c.1820G>T (p.Cys607Phe)
|
|
|
NM_000018.4(ACADVL):c.1838G>T (p.Arg613Leu)
|
|
|
NM_000018.4(ACADVL):c.1839del (p.Ile614fs)
|
|
|
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)
|
rs1057520507
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)
|
rs1555529204
|
|
NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter)
|
rs2142964399
|
|
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)
|
rs1452402269
|
|
NM_000018.4(ACADVL):c.1924G>A (p.Val642Met)
|
|
|
NM_000018.4(ACADVL):c.1925T>C (p.Val642Ala)
|
|
|
NM_000018.4(ACADVL):c.192del (p.Lys64fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)
|
rs765432568
|
|
NM_000018.4(ACADVL):c.200_204+19del
|
|
|
NM_000018.4(ACADVL):c.201_204+13del
|
|
|
NM_000018.4(ACADVL):c.204+1G>T
|
|
|
NM_000018.4(ACADVL):c.205-1G>C
|
rs2142965332
|
|
NM_000018.4(ACADVL):c.205-2A>G
|
rs1597518954
|
|
NM_000018.4(ACADVL):c.205-2A>T
|
rs1597518954
|
|
NM_000018.4(ACADVL):c.210dup (p.Lys71Ter)
|
rs796051912
|
|
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)
|
rs1161495077
|
|
NM_000018.4(ACADVL):c.228_231dup (p.Phe78fs)
|
|
|
NM_000018.4(ACADVL):c.238G>C (p.Gly80Arg)
|
|
|
NM_000018.4(ACADVL):c.239G>A (p.Gly80Asp)
|
rs1460278489
|
|
NM_000018.4(ACADVL):c.239G>C (p.Gly80Ala)
|
|
|
NM_000018.4(ACADVL):c.251_252del (p.Thr84fs)
|
rs1452339268
|
|
NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter)
|
rs1555527732
|
|
NM_000018.4(ACADVL):c.259_272delinsT (p.Val87fs)
|
|
|
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)
|
rs796051907
|
|
NM_000018.4(ACADVL):c.265C>T (p.Pro89Ser)
|
|
|
NM_000018.4(ACADVL):c.266del (p.Pro89fs)
|
rs771808680
|
|
NM_000018.4(ACADVL):c.267del (p.Tyr90fs)
|
|
|
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln)
|
rs2071160066
|
|
NM_000018.4(ACADVL):c.277+1G>T
|
rs1057517012
|
|
NM_000018.4(ACADVL):c.277+1del
|
rs1555527741
|
|
NM_000018.4(ACADVL):c.277+2T>A
|
|
|
NM_000018.4(ACADVL):c.277+2T>G
|
rs1555527745
|
|
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
|
|
|
NM_000018.4(ACADVL):c.278-1G>A
|
rs1298004609
|
|
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs)
|
rs2071168842
|
|
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)
|
rs786204713
|
|
NM_000018.4(ACADVL):c.299_305del (p.Gln100fs)
|
rs1555527806
|
|
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)
|
rs1597520263
|
|
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)
|
rs1057516979
|
|
NM_000018.4(ACADVL):c.316_325del (p.Val106fs)
|
rs1057518506
|
|
NM_000018.4(ACADVL):c.335del (p.Phe112fs)
|
rs764028320
|
|
NM_000018.4(ACADVL):c.335dup (p.Phe113fs)
|
|
|
NM_000018.4(ACADVL):c.337T>A (p.Phe113Ile)
|
|
|
NM_000018.4(ACADVL):c.342+1G>A
|
|
|
NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter)
|
rs370146676
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.365dup (p.Asn122fs)
|
|
|
NM_000018.4(ACADVL):c.366T>G (p.Asn122Lys)
|
|
|
NM_000018.4(ACADVL):c.373C>G (p.Leu125Val)
|
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.388_391dup (p.Thr131fs)
|
|
|
NM_000018.4(ACADVL):c.388del (p.Glu130fs)
|
rs2142969054
|
|
NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter)
|
rs1555527907
|
|
NM_000018.4(ACADVL):c.418G>A (p.Gly140Arg)
|
rs2142969408
|
|
NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu)
|
rs2071185757
|
|
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)
|
rs2071185652
|
|
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser)
|
rs398123088
|
|
NM_000018.4(ACADVL):c.427G>A (p.Gly143Ser)
|
rs794727773
|
|
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)
|
rs758144859
|
|
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val)
|
|
|
NM_000018.4(ACADVL):c.431T>C (p.Leu144Pro)
|
rs1555527925
|
|
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)
|
rs786204738
|
|
NM_000018.4(ACADVL):c.441del (p.Ser148fs)
|
rs2142969688
|
|
NM_000018.4(ACADVL):c.455G>A (p.Gly152Asp)
|
rs794727772
|
|
NM_000018.4(ACADVL):c.475del (p.Gln159fs)
|
|
|
NM_000018.4(ACADVL):c.477+1G>A
|
|
|
NM_000018.4(ACADVL):c.477+1G>C
|
rs2142969951
|
|
NM_000018.4(ACADVL):c.477+2T>G
|
|
|
NM_000018.4(ACADVL):c.478-1G>C
|
rs1057517130
|
|
NM_000018.4(ACADVL):c.479_486del
|
|
|
NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter)
|
rs371910495
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
NM_000018.4(ACADVL):c.481G>T (p.Ala161Ser)
|
|
|
NM_000018.4(ACADVL):c.482C>A (p.Ala161Asp)
|
|
|
NM_000018.4(ACADVL):c.490G>A (p.Val164Met)
|
|
|
NM_000018.4(ACADVL):c.490G>T (p.Val164Leu)
|
|
|
NM_000018.4(ACADVL):c.491T>A (p.Val164Glu)
|
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu)
|
rs2071227581
|
|
NM_000018.4(ACADVL):c.514C>T (p.Leu172Phe)
|
|
|
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)
|
rs1597524963
|
|
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)
|
rs1131691808
|
|
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)
|
rs796051909
|
|
NM_000018.4(ACADVL):c.553G>T (p.Gly185Cys)
|
|
|
NM_000018.4(ACADVL):c.565_587del (p.Ile189fs)
|
rs1258134795
|
|
NM_000018.4(ACADVL):c.589del (p.Gln197fs)
|
|
|
NM_000018.4(ACADVL):c.595_598del (p.Glu199fs)
|
|
|
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)
|
rs1597525536
|
|
NM_000018.4(ACADVL):c.602_605del (p.Tyr201fs)
|
|
|
NM_000018.4(ACADVL):c.603C>A (p.Tyr201Ter)
|
|
|
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
|
|
|
NM_000018.4(ACADVL):c.604C>T (p.Leu202Phe)
|
|
|
NM_000018.4(ACADVL):c.604del (p.Leu202fs)
|
|
|
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)
|
rs398123090
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
NM_000018.4(ACADVL):c.623-19_623-3del
|
|
|
NM_000018.4(ACADVL):c.623-1G>A
|
rs1597526782
|
|
NM_000018.4(ACADVL):c.623-2_623-1del
|
rs1555528265
|
|
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)
|
rs2142976531
|
|
NM_000018.4(ACADVL):c.632_633del (p.Val211fs)
|
rs1489679976
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
|
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val)
|
rs2071252145
|
|
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)
|
rs1192969297
|
|
NM_000018.4(ACADVL):c.643T>C (p.Cys215Arg)
|
|
|
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)
|
rs1057516714
|
|
NM_000018.4(ACADVL):c.645T>A (p.Cys215Ter)
|
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
|
NM_000018.4(ACADVL):c.655C>T (p.Pro219Ser)
|
|
|
NM_000018.4(ACADVL):c.656C>A (p.Pro219His)
|
|
|
NM_000018.4(ACADVL):c.656C>T (p.Pro219Leu)
|
|
|
NM_000018.4(ACADVL):c.658_659del (p.Ser220fs)
|
|
|
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)
|
rs398123091
|
|
NM_000018.4(ACADVL):c.665G>C (p.Gly222Ala)
|
|
|
NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter)
|
rs2071253904
|
|
NM_000018.4(ACADVL):c.676del (p.Ala226fs)
|
rs2071254166
|
|
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)
|
rs2071255080
|
|
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)
|
rs1241935771
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000018.4(ACADVL):c.710G>A (p.Cys237Tyr)
|
|
|
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)
|
rs575789958
|
|
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
|
|
|
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)
|
rs387906253
|
|
NM_000018.4(ACADVL):c.740A>C (p.Lys247Thr)
|
|
|
NM_000018.4(ACADVL):c.740A>G (p.Lys247Arg)
|
rs2142977168
|
|
NM_000018.4(ACADVL):c.741G>C (p.Lys247Asn)
|
|
|
NM_000018.4(ACADVL):c.753-2A>G
|
rs398123092
|
|
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)
|
rs1197133430
|
|
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs)
|
rs2071266269
|
|
NM_000018.4(ACADVL):c.799_802del (p.Val267fs)
|
rs761204548
|
|
NM_000018.4(ACADVL):c.809del (p.Pro270fs)
|
rs1567564499
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.839C>G (p.Thr280Arg)
|
|
|
NM_000018.4(ACADVL):c.839C>T (p.Thr280Ile)
|
rs2142978093
|
|
NM_000018.4(ACADVL):c.842C>A (p.Ala281Asp)
|
|
|
NM_000018.4(ACADVL):c.850_851insC (p.Val284fs)
|
|
|
NM_000018.4(ACADVL):c.852G>A (p.Val284=)
|
|
|
NM_000018.4(ACADVL):c.854A>T (p.Glu285Val)
|
|
|
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs)
|
rs2071269046
|
|
NM_000018.4(ACADVL):c.857G>A (p.Arg286Lys)
|
|
|
NM_000018.4(ACADVL):c.864del (p.Phe288fs)
|
rs1555528386
|
|
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
|
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
NM_000018.4(ACADVL):c.873_874del (p.Thr292fs)
|
|
|
NM_000018.4(ACADVL):c.879-1G>A
|
rs2071286572
|
|
NM_000018.4(ACADVL):c.879-2A>G
|
|
|
NM_000018.4(ACADVL):c.879-2_879-1del
|
|
|
NM_000018.4(ACADVL):c.879-88_896del
|
rs2142979402
|
|
NM_000018.4(ACADVL):c.879-8T>A
|
rs2071286355
|
|
NM_000018.4(ACADVL):c.883C>G (p.Pro295Ala)
|
rs1327386820
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
NM_000018.4(ACADVL):c.891del (p.Lys298fs)
|
rs1057517180
|
|
NM_000018.4(ACADVL):c.900G>A (p.Met300Ile)
|
rs2071288305
|
|
NM_000018.4(ACADVL):c.902G>A (p.Gly301Asp)
|
|
|
NM_000018.4(ACADVL):c.916_917del (p.Asn306fs)
|
|
|
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)
|
rs2071289046
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)
|
rs201676770
|
|
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)
|
rs149467828
|
|
NM_000018.4(ACADVL):c.977T>A (p.Val326Asp)
|
rs1205407134
|
|
NM_000018.4(ACADVL):c.996del (p.Ala333fs)
|
rs1057516843
|
|
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)
|
rs1057516843
|
|
NM_000018.4(ACADVL):c.[1097G>A;869del]
|
|
|