NM_000018.4(ACADVL):c.478-106del
|
rs370388543
|
0.60962
|
NM_000018.4(ACADVL):c.1605+6T>C
|
rs17671352
|
0.56622
|
NM_001033859.2(ACADVL):c.-63_-49dup
|
rs6145976
|
0.50677
|
NM_000018.4(ACADVL):c.478-22_478-21del
|
rs60400822
|
0.07027
|
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu)
|
rs28934585
|
0.03462
|
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp)
|
rs2230178
|
0.02763
|
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=)
|
rs8064573
|
0.02419
|
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)
|
rs2230179
|
0.02069
|
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)
|
rs2230180
|
0.00920
|
NM_000018.4(ACADVL):c.623-8C>T
|
rs144996066
|
0.00919
|
NM_000018.4(ACADVL):c.636C>T (p.Ala212=)
|
rs76547988
|
0.00560
|
NM_000018.3(ACADVL):c.-64T>C
|
rs77051465
|
0.00545
|
NM_000018.4(ACADVL):c.879-50G>T
|
rs11870841
|
0.00481
|
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)
|
rs140566084
|
0.00391
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000018.4(ACADVL):c.-36A>G
|
rs372592554
|
0.00243
|
NM_000018.4(ACADVL):c.1828-4C>G
|
rs184559206
|
0.00192
|
NM_000018.4(ACADVL):c.1752-36G>A
|
rs200709964
|
0.00173
|
NM_000018.4(ACADVL):c.752+24C>T
|
rs201030339
|
0.00170
|
NM_000018.4(ACADVL):c.1678+23C>T
|
rs147546456
|
0.00163
|
NM_000018.4(ACADVL):c.*53C>T
|
rs535274747
|
0.00148
|
NM_000018.4(ACADVL):c.1606-22C>T
|
rs370303265
|
0.00139
|
NM_000018.4(ACADVL):c.878+33T>G
|
rs145589195
|
0.00139
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
NM_000018.4(ACADVL):c.663C>T (p.Ser221=)
|
rs144255994
|
0.00116
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_000018.4(ACADVL):c.780G>A (p.Thr260=)
|
rs140871321
|
0.00108
|
NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val)
|
rs730880036
|
0.00071
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
|
rs35501596
|
0.00061
|
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)
|
rs146115467
|
0.00058
|
NM_000018.4(ACADVL):c.63-35G>A
|
rs774905326
|
0.00053
|
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)
|
rs150518187
|
0.00051
|
NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys)
|
rs139427392
|
0.00045
|
NM_000018.4(ACADVL):c.1077+15C>T
|
rs202237278
|
0.00041
|
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.1581G>A (p.Pro527=)
|
rs149436747
|
0.00035
|
NM_000018.4(ACADVL):c.587C>T (p.Ala196Val)
|
rs201370388
|
0.00034
|
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)
|
rs34153370
|
0.00034
|
NM_000018.4(ACADVL):c.343-41C>A
|
rs368107662
|
0.00031
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
NM_000018.4(ACADVL):c.1751+18G>A
|
rs528002997
|
0.00024
|
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr)
|
rs367705640
|
0.00021
|
NM_000018.4(ACADVL):c.1678+39C>G
|
rs377062362
|
0.00016
|
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=)
|
rs778531268
|
0.00014
|
NM_000018.4(ACADVL):c.1605+22A>G
|
rs1052646012
|
0.00014
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000018.4(ACADVL):c.759G>A (p.Gly253=)
|
rs148073142
|
0.00014
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
NM_000018.4(ACADVL):c.342+25C>T
|
rs771711857
|
0.00013
|
NM_000018.4(ACADVL):c.477+16C>T
|
rs202059117
|
0.00013
|
NM_000018.4(ACADVL):c.478-89T>C
|
rs9646410
|
0.00013
|
NM_000018.4(ACADVL):c.756T>C (p.Asn252=)
|
rs143233413
|
0.00013
|
NM_000018.4(ACADVL):c.1873C>G (p.Pro625Ala)
|
rs377044444
|
0.00012
|
NM_000018.4(ACADVL):c.*8C>T
|
rs370513576
|
0.00011
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)
|
rs143172658
|
0.00011
|
NM_000018.4(ACADVL):c.622+12C>A
|
rs374633807
|
0.00011
|
NM_000018.4(ACADVL):c.1269+25G>A
|
rs373157378
|
0.00010
|
NM_000018.4(ACADVL):c.1751+46C>G
|
rs375203448
|
0.00010
|
NM_000018.4(ACADVL):c.495G>A (p.Glu165=)
|
rs370169077
|
0.00010
|
NM_000018.4(ACADVL):c.62+9G>A
|
rs369512281
|
0.00010
|
NM_000018.4(ACADVL):c.1005C>A (p.His335Gln)
|
rs753624994
|
0.00009
|
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
|
rs777380964
|
0.00009
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.1613G>A (p.Arg538Gln)
|
rs201350598
|
0.00009
|
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)
|
rs375806217
|
0.00009
|
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile)
|
rs201462718
|
0.00009
|
NM_000018.4(ACADVL):c.276C>T (p.Ser92=)
|
rs530278910
|
0.00009
|
NM_000018.4(ACADVL):c.277+24T>C
|
rs199945418
|
0.00009
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000018.4(ACADVL):c.1182+17C>A
|
rs191276923
|
0.00008
|
NM_000018.4(ACADVL):c.205-7T>C
|
rs760625298
|
0.00007
|
NM_000018.4(ACADVL):c.205-8C>G
|
rs774353448
|
0.00007
|
NM_000018.4(ACADVL):c.63-31C>T
|
rs372982295
|
0.00007
|
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)
|
rs775537775
|
0.00006
|
NM_000018.4(ACADVL):c.264C>T (p.Phe88=)
|
rs147357106
|
0.00006
|
NM_000018.4(ACADVL):c.583A>G (p.Lys195Glu)
|
rs199763196
|
0.00006
|
NM_000018.4(ACADVL):c.62+18G>A
|
rs780776419
|
0.00006
|
NM_000018.4(ACADVL):c.686G>A (p.Arg229Gln)
|
rs777955007
|
0.00006
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_000018.4(ACADVL):c.1077+16G>A
|
rs780420241
|
0.00005
|
NM_000018.4(ACADVL):c.1078-13G>C
|
rs368366316
|
0.00005
|
NM_000018.4(ACADVL):c.1719C>T (p.Ile573=)
|
rs372452333
|
0.00005
|
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val)
|
rs374729641
|
0.00005
|
NM_000018.4(ACADVL):c.623-18T>C
|
rs777866869
|
0.00005
|
NM_000018.4(ACADVL):c.752+7T>C
|
rs753057653
|
0.00005
|
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.954A>G (p.Pro318=)
|
rs137919558
|
0.00005
|
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp)
|
rs536992268
|
0.00004
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000018.4(ACADVL):c.1332+10G>A
|
rs763921736
|
0.00004
|
NM_000018.4(ACADVL):c.138G>A (p.Gln46=)
|
rs775956800
|
0.00004
|
NM_000018.4(ACADVL):c.139-20C>T
|
rs374535729
|
0.00004
|
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)
|
rs771025937
|
0.00004
|
NM_000018.4(ACADVL):c.1592G>A (p.Arg531Gln)
|
rs772763960
|
0.00004
|
NM_000018.4(ACADVL):c.1679-34C>T
|
rs779439503
|
0.00004
|
NM_000018.4(ACADVL):c.1752-17C>T
|
rs750855741
|
0.00004
|
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)
|
rs200117742
|
0.00004
|
NM_000018.4(ACADVL):c.1849G>A (p.Gly617Ser)
|
rs752227163
|
0.00004
|
NM_000018.4(ACADVL):c.1857C>T (p.Ala619=)
|
rs375730795
|
0.00004
|
NM_000018.4(ACADVL):c.255T>C (p.Asp85=)
|
rs201085520
|
0.00004
|
NM_000018.4(ACADVL):c.278-39C>T
|
rs202244937
|
0.00004
|
NM_000018.4(ACADVL):c.342+15G>A
|
rs777751102
|
0.00004
|
NM_000018.4(ACADVL):c.352G>A (p.Asp118Asn)
|
rs543878973
|
0.00004
|
NM_000018.4(ACADVL):c.3G>A (p.Met1Ile)
|
rs768236474
|
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.1197G>C (p.Met399Ile)
|
rs767552054
|
0.00003
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)
|
rs118204018
|
0.00003
|
NM_000018.4(ACADVL):c.1332+27C>T
|
rs200161683
|
0.00003
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000018.4(ACADVL):c.1434+23G>A
|
rs759991740
|
0.00003
|
NM_000018.4(ACADVL):c.1458G>T (p.Gly486=)
|
rs749425874
|
0.00003
|
NM_000018.4(ACADVL):c.1532+11G>A
|
rs372900326
|
0.00003
|
NM_000018.4(ACADVL):c.1566C>T (p.Ser522=)
|
rs371654348
|
0.00003
|
NM_000018.4(ACADVL):c.1605+7G>A
|
rs572010910
|
0.00003
|
NM_000018.4(ACADVL):c.1606-6C>T
|
rs764055292
|
0.00003
|
NM_000018.4(ACADVL):c.1678+24G>A
|
rs751665756
|
0.00003
|
NM_000018.4(ACADVL):c.168C>G (p.Pro56=)
|
rs544122648
|
0.00003
|
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)
|
rs398123085
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000018.4(ACADVL):c.1752-23T>C
|
rs368009800
|
0.00003
|
NM_000018.4(ACADVL):c.1782C>A (p.Pro594=)
|
rs1373644425
|
0.00003
|
NM_000018.4(ACADVL):c.1785G>A (p.Thr595=)
|
rs774382482
|
0.00003
|
NM_000018.4(ACADVL):c.1828-20C>T
|
rs757145035
|
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.1858G>A (p.Ala620Thr)
|
rs965557488
|
0.00003
|
NM_000018.4(ACADVL):c.1931G>A (p.Arg644Gln)
|
rs774762384
|
0.00003
|
NM_000018.4(ACADVL):c.277+6G>T
|
rs776422793
|
0.00003
|
NM_000018.4(ACADVL):c.278T>C (p.Val93Ala)
|
rs886053373
|
0.00003
|
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu)
|
rs750675692
|
0.00003
|
NM_000018.4(ACADVL):c.343-14T>C
|
rs200368309
|
0.00003
|
NM_000018.4(ACADVL):c.343G>C (p.Glu115Gln)
|
rs370146676
|
0.00003
|
NM_000018.4(ACADVL):c.369C>T (p.Asp123=)
|
rs374524648
|
0.00003
|
NM_000018.4(ACADVL):c.467G>C (p.Cys156Ser)
|
rs139973845
|
0.00003
|
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala)
|
rs372684079
|
0.00003
|
NM_000018.4(ACADVL):c.945A>G (p.Val315=)
|
rs761849960
|
0.00003
|
NM_000018.4(ACADVL):c.992A>C (p.Lys331Thr)
|
rs727503792
|
0.00003
|
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG
|
rs1555527381
|
0.00002
|
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu)
|
rs1356652354
|
0.00002
|
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.1177A>G (p.Thr393Ala)
|
rs199840831
|
0.00002
|
NM_000018.4(ACADVL):c.1236G>C (p.Gln412His)
|
rs745355288
|
0.00002
|
NM_000018.4(ACADVL):c.1269+8C>G
|
rs766504482
|
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.1366C>T (p.Arg456Cys)
|
rs794727111
|
0.00002
|
NM_000018.4(ACADVL):c.138+10C>G
|
rs1057523013
|
0.00002
|
NM_000018.4(ACADVL):c.138+7C>A
|
rs1462406529
|
0.00002
|
NM_000018.4(ACADVL):c.1389G>A (p.Gly463=)
|
rs377305356
|
0.00002
|
NM_000018.4(ACADVL):c.1434+7C>T
|
rs748136425
|
0.00002
|
NM_000018.4(ACADVL):c.1435-11T>C
|
rs745620433
|
0.00002
|
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val)
|
rs779901247
|
0.00002
|
NM_000018.4(ACADVL):c.1555C>G (p.Leu519Val)
|
rs781063725
|
0.00002
|
NM_000018.4(ACADVL):c.1614G>A (p.Arg538=)
|
rs144450894
|
0.00002
|
NM_000018.4(ACADVL):c.1678+22C>T
|
rs761650394
|
0.00002
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000018.4(ACADVL):c.1710C>T (p.Asp570=)
|
rs759638134
|
0.00002
|
NM_000018.4(ACADVL):c.1751+12G>A
|
rs1380275062
|
0.00002
|
NM_000018.4(ACADVL):c.1752-32_1752-31del
|
rs758750087
|
0.00002
|
NM_000018.4(ACADVL):c.1765C>T (p.Leu589=)
|
rs533344677
|
0.00002
|
NM_000018.4(ACADVL):c.1791G>A (p.Gln597=)
|
rs372453844
|
0.00002
|
NM_000018.4(ACADVL):c.1827+8T>C
|
rs941400018
|
0.00002
|
NM_000018.4(ACADVL):c.1866G>A (p.Gln622=)
|
rs373898227
|
0.00002
|
NM_000018.4(ACADVL):c.1915A>C (p.Lys639Gln)
|
rs771122302
|
0.00002
|
NM_000018.4(ACADVL):c.273G>A (p.Pro91=)
|
rs778993830
|
0.00002
|
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys)
|
rs557260142
|
0.00002
|
NM_000018.4(ACADVL):c.342+14C>T
|
rs567468883
|
0.00002
|
NM_000018.4(ACADVL):c.423C>T (p.Ala141=)
|
rs757296575
|
0.00002
|
NM_000018.4(ACADVL):c.457G>T (p.Val153Leu)
|
rs894284973
|
0.00002
|
NM_000018.4(ACADVL):c.477+12C>G
|
rs1057523521
|
0.00002
|
NM_000018.4(ACADVL):c.477+8C>T
|
rs1437698813
|
0.00002
|
NM_000018.4(ACADVL):c.477+9G>A
|
rs780716056
|
0.00002
|
NM_000018.4(ACADVL):c.478-44C>T
|
rs754668930
|
0.00002
|
NM_000018.4(ACADVL):c.478-8C>G
|
rs1300294861
|
0.00002
|
NM_000018.4(ACADVL):c.485G>A (p.Arg162His)
|
rs754756970
|
0.00002
|
NM_000018.4(ACADVL):c.499G>A (p.Val167Met)
|
rs199991742
|
0.00002
|
NM_000018.4(ACADVL):c.519C>T (p.Gly173=)
|
rs757830946
|
0.00002
|
NM_000018.4(ACADVL):c.622+18G>A
|
rs200740226
|
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.822C>T (p.Ala274=)
|
rs372038260
|
0.00002
|
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)
|
rs531514327
|
0.00002
|
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)
|
rs766192888
|
0.00002
|
NM_000018.4(ACADVL):c.940G>A (p.Gly314Arg)
|
rs775669454
|
0.00002
|
NM_000018.4(ACADVL):c.951G>T (p.Val317=)
|
rs1183459867
|
0.00002
|
NM_000018.4(ACADVL):c.957G>A (p.Ser319=)
|
rs143870522
|
0.00002
|
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)
|
rs568118142
|
0.00002
|
NM_000018.4(ACADVL):c.*32T>G
|
rs886053376
|
0.00001
|
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.100G>A (p.Gly34Ser)
|
rs781061205
|
0.00001
|
NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser)
|
rs956279629
|
0.00001
|
NM_000018.4(ACADVL):c.1037C>T (p.Ala346Val)
|
rs1303150138
|
0.00001
|
NM_000018.4(ACADVL):c.1040C>T (p.Ala347Val)
|
rs2071295317
|
0.00001
|
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)
|
rs1567565733
|
0.00001
|
NM_000018.4(ACADVL):c.1050T>C (p.Gly350=)
|
rs752314368
|
0.00001
|
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn)
|
rs796051911
|
0.00001
|
NM_000018.4(ACADVL):c.1063A>G (p.Ile355Val)
|
rs2071297089
|
0.00001
|
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)
|
rs1351976589
|
0.00001
|
NM_000018.4(ACADVL):c.1067T>C (p.Ile356Thr)
|
rs2071297392
|
0.00001
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.1077+8C>T
|
rs938844412
|
0.00001
|
NM_000018.4(ACADVL):c.1078-23G>A
|
rs372299655
|
0.00001
|
NM_000018.4(ACADVL):c.1079T>C (p.Val360Ala)
|
rs1284063777
|
0.00001
|
NM_000018.4(ACADVL):c.1083T>C (p.Asp361=)
|
rs770917473
|
0.00001
|
NM_000018.4(ACADVL):c.1089C>A (p.Ala363=)
|
rs774273664
|
0.00001
|
NM_000018.4(ACADVL):c.1101C>T (p.Thr367=)
|
rs1179669157
|
0.00001
|
NM_000018.4(ACADVL):c.111G>A (p.Arg37=)
|
rs755803798
|
0.00001
|
NM_000018.4(ACADVL):c.1125C>T (p.Asn375=)
|
rs1349423150
|
0.00001
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
NM_000018.4(ACADVL):c.1133T>C (p.Leu378Pro)
|
rs2071314177
|
0.00001
|
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)
|
rs1057523504
|
0.00001
|
NM_000018.4(ACADVL):c.1159G>A (p.Val387Ile)
|
rs1422904205
|
0.00001
|
NM_000018.4(ACADVL):c.117C>T (p.Pro39=)
|
rs370883584
|
0.00001
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
NM_000018.4(ACADVL):c.1183-15A>G
|
rs765390290
|
0.00001
|
NM_000018.4(ACADVL):c.1183-6C>T
|
rs1184450028
|
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.123C>T (p.Ala41=)
|
rs778217628
|
0.00001
|
NM_000018.4(ACADVL):c.1245C>T (p.Ala415=)
|
rs1481416358
|
0.00001
|
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)
|
rs1451455641
|
0.00001
|
NM_000018.4(ACADVL):c.1269+18C>G
|
rs1567567226
|
0.00001
|
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)
|
rs765356942
|
0.00001
|
NM_000018.4(ACADVL):c.1302C>A (p.Ile434=)
|
rs1469316904
|
0.00001
|
NM_000018.4(ACADVL):c.130G>A (p.Ala44Thr)
|
rs573810960
|
0.00001
|
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)
|
rs533055438
|
0.00001
|
NM_000018.4(ACADVL):c.132C>G (p.Ala44=)
|
rs1237892223
|
0.00001
|
NM_000018.4(ACADVL):c.1332+9C>T
|
rs376427620
|
0.00001
|
NM_000018.4(ACADVL):c.1333-13G>A
|
rs774376862
|
0.00001
|
NM_000018.4(ACADVL):c.1333-4C>T
|
rs1393726040
|
0.00001
|
NM_000018.4(ACADVL):c.1333-7G>T
|
rs1228196483
|
0.00001
|
NM_000018.4(ACADVL):c.1341A>G (p.Gly447=)
|
rs1484763411
|
0.00001
|
NM_000018.4(ACADVL):c.1345G>C (p.Glu449Gln)
|
rs398123081
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.134C>T (p.Ala45Val)
|
rs2071124062
|
0.00001
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn)
|
rs1419606204
|
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.138+1G>A
|
rs747351687
|
0.00001
|
NM_000018.4(ACADVL):c.138+2T>C
|
rs1057516817
|
0.00001
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
0.00001
|
NM_000018.4(ACADVL):c.139-10C>T
|
rs747439748
|
0.00001
|
NM_000018.4(ACADVL):c.1399A>G (p.Ile467Val)
|
rs755685700
|
0.00001
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)
|
rs398123083
|
0.00001
|
NM_000018.4(ACADVL):c.1408C>T (p.Leu470=)
|
rs1335872701
|
0.00001
|
NM_000018.4(ACADVL):c.1410G>A (p.Leu470=)
|
rs1281251073
|
0.00001
|
NM_000018.4(ACADVL):c.1434+38G>C
|
rs763704056
|
0.00001
|
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)
|
rs759775666
|
0.00001
|
NM_000018.4(ACADVL):c.1494T>G (p.Ala498=)
|
rs756867868
|
0.00001
|
NM_000018.4(ACADVL):c.1515A>C (p.Ala505=)
|
rs781153542
|
0.00001
|
NM_000018.4(ACADVL):c.1524G>C (p.Gln508His)
|
rs749332311
|
0.00001
|
NM_000018.4(ACADVL):c.1532+10G>C
|
rs775913504
|
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.1533-3C>A
|
rs1486836969
|
0.00001
|
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp)
|
rs371316167
|
0.00001
|
NM_000018.4(ACADVL):c.1535G>A (p.Arg512Gln)
|
rs1363658463
|
0.00001
|
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)
|
rs370282954
|
0.00001
|
NM_000018.4(ACADVL):c.1551C>T (p.Ser517=)
|
rs926496616
|
0.00001
|
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)
|
rs374507980
|
0.00001
|
NM_000018.4(ACADVL):c.1569A>G (p.Gly523=)
|
rs779048354
|
0.00001
|
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)
|
rs745996278
|
0.00001
|
NM_000018.4(ACADVL):c.1595G>A (p.Ser532Asn)
|
rs1453818885
|
0.00001
|
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)
|
rs779770406
|
0.00001
|
NM_000018.4(ACADVL):c.1605+3A>G
|
rs759274087
|
0.00001
|
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp)
|
rs192904909
|
0.00001
|
NM_000018.4(ACADVL):c.1621G>A (p.Glu541Lys)
|
rs1350421513
|
0.00001
|
NM_000018.4(ACADVL):c.1664A>G (p.Lys555Arg)
|
rs1231882461
|
0.00001
|
NM_000018.4(ACADVL):c.1670G>A (p.Gly557Glu)
|
rs773842959
|
0.00001
|
NM_000018.4(ACADVL):c.1678+16A>G
|
rs768350660
|
0.00001
|
NM_000018.4(ACADVL):c.1678+4A>T
|
rs1057518417
|
0.00001
|
NM_000018.4(ACADVL):c.1678+9G>A
|
rs775156404
|
0.00001
|
NM_000018.4(ACADVL):c.1684C>G (p.Gln562Glu)
|
rs370292684
|
0.00001
|
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)
|
rs1085307648
|
0.00001
|
NM_000018.4(ACADVL):c.1751+30C>T
|
rs757837505
|
0.00001
|
NM_000018.4(ACADVL):c.1751+7A>T
|
rs1438741226
|
0.00001
|
NM_000018.4(ACADVL):c.1752-33C>T
|
rs760851448
|
0.00001
|
NM_000018.4(ACADVL):c.179T>G (p.Leu60Arg)
|
rs1405660468
|
0.00001
|
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)
|
rs1555529088
|
0.00001
|
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr)
|
rs200117742
|
0.00001
|
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys)
|
rs398123086
|
0.00001
|
NM_000018.4(ACADVL):c.1827+10G>A
|
rs766755156
|
0.00001
|
NM_000018.4(ACADVL):c.1827+9C>T
|
rs372630480
|
0.00001
|
NM_000018.4(ACADVL):c.1829C>T (p.Ala610Val)
|
rs1179668719
|
0.00001
|
NM_000018.4(ACADVL):c.1848G>A (p.Glu616=)
|
rs372886650
|
0.00001
|
NM_000018.4(ACADVL):c.1893C>T (p.Tyr631=)
|
rs780006187
|
0.00001
|
NM_000018.4(ACADVL):c.1913C>T (p.Ser638Phe)
|
rs1210477732
|
0.00001
|
NM_000018.4(ACADVL):c.1929G>C (p.Glu643Asp)
|
rs1208010882
|
0.00001
|
NM_000018.4(ACADVL):c.1964T>A (p.Phe655Tyr)
|
rs377659973
|
0.00001
|
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)
|
rs753577095
|
0.00001
|
NM_000018.4(ACADVL):c.204+15G>A
|
rs1404625751
|
0.00001
|
NM_000018.4(ACADVL):c.204+16G>A
|
rs780773899
|
0.00001
|
NM_000018.4(ACADVL):c.204+4G>C
|
rs764767909
|
0.00001
|
NM_000018.4(ACADVL):c.205-15C>T
|
rs1567560898
|
0.00001
|
NM_000018.4(ACADVL):c.216C>T (p.Ser72=)
|
rs761492981
|
0.00001
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
NM_000018.4(ACADVL):c.253dup (p.Asp85fs)
|
rs1247360325
|
0.00001
|
NM_000018.4(ACADVL):c.270C>T (p.Tyr90=)
|
rs749482177
|
0.00001
|
NM_000018.4(ACADVL):c.277+7G>C
|
rs1405587459
|
0.00001
|
NM_000018.4(ACADVL):c.278-5T>C
|
rs780118841
|
0.00001
|
NM_000018.4(ACADVL):c.278-6C>T
|
rs1008843538
|
0.00001
|
NM_000018.4(ACADVL):c.278-7T>C
|
rs758471890
|
0.00001
|
NM_000018.4(ACADVL):c.278-8C>T
|
rs1178133251
|
0.00001
|
NM_000018.4(ACADVL):c.279G>A (p.Val93=)
|
rs748048602
|
0.00001
|
NM_000018.4(ACADVL):c.285C>T (p.Asn95=)
|
rs769723013
|
0.00001
|
NM_000018.4(ACADVL):c.301T>C (p.Phe101Leu)
|
rs759197049
|
0.00001
|
NM_000018.4(ACADVL):c.322C>G (p.Pro108Ala)
|
rs886043235
|
0.00001
|
NM_000018.4(ACADVL):c.331C>T (p.Arg111Cys)
|
rs370929055
|
0.00001
|
NM_000018.4(ACADVL):c.332G>A (p.Arg111His)
|
rs958166043
|
0.00001
|
NM_000018.4(ACADVL):c.339C>T (p.Phe113=)
|
rs750653177
|
0.00001
|
NM_000018.4(ACADVL):c.33G>A (p.Gly11=)
|
rs975427927
|
0.00001
|
NM_000018.4(ACADVL):c.342+10G>T
|
rs1226688830
|
0.00001
|
NM_000018.4(ACADVL):c.342+16G>C
|
rs536497611
|
0.00001
|
NM_000018.4(ACADVL):c.342+18G>A
|
rs372594520
|
0.00001
|
NM_000018.4(ACADVL):c.343-13G>A
|
rs1250954751
|
0.00001
|
NM_000018.4(ACADVL):c.343-19G>A
|
rs2090623176
|
0.00001
|
NM_000018.4(ACADVL):c.343-1G>A
|
rs1555527877
|
0.00001
|
NM_000018.4(ACADVL):c.343-23G>A
|
rs781064781
|
0.00001
|
NM_000018.4(ACADVL):c.34C>T (p.Arg12Trp)
|
rs769290349
|
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.381G>A (p.Met127Ile)
|
rs773608087
|
0.00001
|
NM_000018.4(ACADVL):c.385G>A (p.Glu129Lys)
|
rs1402849815
|
0.00001
|
NM_000018.4(ACADVL):c.393C>G (p.Thr131=)
|
rs754931255
|
0.00001
|
NM_000018.4(ACADVL):c.406C>T (p.Leu136Phe)
|
rs1460246415
|
0.00001
|
NM_000018.4(ACADVL):c.427G>T (p.Gly143Cys)
|
rs794727773
|
0.00001
|
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)
|
rs1458941582
|
0.00001
|
NM_000018.4(ACADVL):c.432G>C (p.Leu144=)
|
rs778968978
|
0.00001
|
NM_000018.4(ACADVL):c.456T>C (p.Gly152=)
|
rs1009994523
|
0.00001
|
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg)
|
rs746688190
|
0.00001
|
NM_000018.4(ACADVL):c.477+14A>G
|
rs1483410961
|
0.00001
|
NM_000018.4(ACADVL):c.477+14_477+16del
|
rs767953226
|
0.00001
|
NM_000018.4(ACADVL):c.480C>T (p.Tyr160=)
|
rs371910495
|
0.00001
|
NM_000018.4(ACADVL):c.483C>A (p.Ala161=)
|
rs573137772
|
0.00001
|
NM_000018.4(ACADVL):c.484C>T (p.Arg162Cys)
|
rs751423064
|
0.00001
|
NM_000018.4(ACADVL):c.490G>C (p.Val164Leu)
|
rs1240846419
|
0.00001
|
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)
|
rs1057516369
|
0.00001
|
NM_000018.4(ACADVL):c.505A>G (p.Met169Val)
|
rs2071227343
|
0.00001
|
NM_000018.4(ACADVL):c.51C>T (p.Leu17=)
|
rs376733533
|
0.00001
|
NM_000018.4(ACADVL):c.531C>T (p.Thr177=)
|
rs2071228805
|
0.00001
|
NM_000018.4(ACADVL):c.532C>T (p.Leu178=)
|
rs376092908
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.54G>A (p.Gly18=)
|
rs759918601
|
0.00001
|
NM_000018.4(ACADVL):c.552C>T (p.Ile184=)
|
rs770961747
|
0.00001
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
NM_000018.4(ACADVL):c.576T>C (p.Phe192=)
|
rs760355468
|
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.613C>G (p.Leu205Val)
|
rs747347662
|
0.00001
|
NM_000018.4(ACADVL):c.62+20G>A
|
rs369163211
|
0.00001
|
NM_000018.4(ACADVL):c.62+5G>A
|
rs1299140180
|
0.00001
|
NM_000018.4(ACADVL):c.622+20G>T
|
rs2071236387
|
0.00001
|
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)
|
rs748329498
|
0.00001
|
NM_000018.4(ACADVL):c.623-10T>C
|
rs1021636784
|
0.00001
|
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro)
|
rs775400380
|
0.00001
|
NM_000018.4(ACADVL):c.62G>A (p.Ser21Asn)
|
rs753922855
|
0.00001
|
NM_000018.4(ACADVL):c.63-18A>G
|
rs1481782237
|
0.00001
|
NM_000018.4(ACADVL):c.63-2A>C
|
rs1555527513
|
0.00001
|
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)
|
rs140629318
|
0.00001
|
NM_000018.4(ACADVL):c.651C>T (p.Thr217=)
|
rs764913196
|
0.00001
|
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)
|
rs746860401
|
0.00001
|
NM_000018.4(ACADVL):c.655C>A (p.Pro219Thr)
|
rs772898391
|
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.690C>T (p.Thr230=)
|
rs749436149
|
0.00001
|
NM_000018.4(ACADVL):c.694G>A (p.Ala232Thr)
|
rs746944448
|
0.00001
|
NM_000018.4(ACADVL):c.707C>T (p.Pro236Leu)
|
rs1336637427
|
0.00001
|
NM_000018.4(ACADVL):c.715A>G (p.Lys239Glu)
|
rs776331587
|
0.00001
|
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile)
|
rs769631635
|
0.00001
|
NM_000018.4(ACADVL):c.728T>A (p.Leu243His)
|
rs772999007
|
0.00001
|
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)
|
rs749159573
|
0.00001
|
NM_000018.4(ACADVL):c.752+5C>T
|
rs768041919
|
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.782T>C (p.Val261Ala)
|
rs756069599
|
0.00001
|
NM_000018.4(ACADVL):c.78G>C (p.Ala26=)
|
rs1285117129
|
0.00001
|
NM_000018.4(ACADVL):c.823G>A (p.Val275Met)
|
rs761199646
|
0.00001
|
NM_000018.4(ACADVL):c.828G>A (p.Lys276=)
|
rs986417874
|
0.00001
|
NM_000018.4(ACADVL):c.829G>A (p.Glu277Lys)
|
rs1208459885
|
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.862T>A (p.Phe288Ile)
|
rs1209359519
|
0.00001
|
NM_000018.4(ACADVL):c.864C>T (p.Phe288=)
|
rs753748672
|
0.00001
|
NM_000018.4(ACADVL):c.867G>T (p.Gly289=)
|
rs745557512
|
0.00001
|
NM_000018.4(ACADVL):c.878+19G>C
|
rs1405611766
|
0.00001
|
NM_000018.4(ACADVL):c.878+1G>C
|
rs757946752
|
0.00001
|
NM_000018.4(ACADVL):c.878+29G>C
|
rs201502622
|
0.00001
|
NM_000018.4(ACADVL):c.878+8A>C
|
rs910644475
|
0.00001
|
NM_000018.4(ACADVL):c.879-16C>A
|
rs780626099
|
0.00001
|
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)
|
rs200573371
|
0.00001
|
NM_000018.4(ACADVL):c.882G>A (p.Gly294=)
|
rs1314252710
|
0.00001
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
NM_000018.4(ACADVL):c.894G>A (p.Lys298=)
|
rs749598830
|
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.907A>G (p.Lys303Glu)
|
rs369149696
|
0.00001
|
NM_000018.4(ACADVL):c.91C>T (p.Pro31Ser)
|
rs1487946294
|
0.00001
|
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala)
|
rs398123095
|
0.00001
|
NM_000018.4(ACADVL):c.952C>T (p.Pro318Ser)
|
rs762653370
|
0.00001
|
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln)
|
rs754806489
|
0.00001
|
NM_000018.4(ACADVL):c.964G>A (p.Val322Met)
|
rs1257648581
|
0.00001
|
NM_000018.4(ACADVL):c.967C>T (p.Leu323=)
|
rs778134085
|
0.00001
|
NM_000018.4(ACADVL):c.969G>A (p.Leu323=)
|
rs749734276
|
0.00001
|
NM_000018.4(ACADVL):c.984T>C (p.Ser328=)
|
rs148803927
|
0.00001
|
NM_000018.4(ACADVL):c.994G>A (p.Val332Ile)
|
rs775761275
|
0.00001
|
NM_000018.4(ACADVL):c.999C>G (p.Ala333=)
|
rs760659262
|
0.00001
|
NC_000017.10:g.(?_6328780)_(7606804_?)dup
|
|
|
NC_000017.10:g.(?_6589506)_(7128436_?)del
|
|
|
NC_000017.10:g.(?_7123304)_(7360042_?)del
|
|
|
NC_000017.10:g.(?_7123304)_(8193254_?)del
|
|
|
NC_000017.10:g.(?_7124120)_(7128078_?)del
|
|
|
NC_000017.10:g.(?_7126433)_(7126544_?)del
|
|
|
NM_000018.3(ACADVL):c.-132C>T
|
rs886053371
|
|
NM_000018.3(ACADVL):c.-49_-48insGGGCACGCGGGCGTGCAGGACGC
|
rs6145976
|
|
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGCCGGCGTGCAGGACGC
|
rs753389263
|
|
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT
|
rs1555527399
|
|
NM_000018.3(ACADVL):c.-50_-49insTGGGCGTGCAGGACGCGGGCGTGCAGGACG
|
rs1555527393
|
|
NM_000018.3(ACADVL):c.-52_-51insTGCGGGCGTGCAGGA
|
rs1555527401
|
|
NM_000018.3(ACADVL):c.-65_-64insCGGGCGTGCAGGACG
|
rs1555527385
|
|
NM_000018.3(ACADVL):c.1375dup
|
rs796051916
|
|
NM_000018.3(ACADVL):c.625del
|
rs2071251239
|
|
NM_000018.3(ACADVL):c.[194C>T;739A>C]
|
|
|
NM_000018.4(ACADVL):c.*116C>G
|
rs2071420563
|
|
NM_000018.4(ACADVL):c.*8del
|
rs398123078
|
|
NM_000018.4(ACADVL):c.1001T>C (p.Met334Thr)
|
|
|
NM_000018.4(ACADVL):c.1002G>A (p.Met334Ile)
|
|
|
NM_000018.4(ACADVL):c.1004A>G (p.His335Arg)
|
rs2142980423
|
|
NM_000018.4(ACADVL):c.1005C>T (p.His335=)
|
|
|
NM_000018.4(ACADVL):c.1007T>A (p.Ile336Asn)
|
rs1431769044
|
|
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs)
|
rs1567565643
|
|
NM_000018.4(ACADVL):c.1009C>T (p.Leu337Phe)
|
rs1567565656
|
|
NM_000018.4(ACADVL):c.1009_1011del (p.Leu337del)
|
rs1315330884
|
|
NM_000018.4(ACADVL):c.100_104dup (p.Arg37fs)
|
rs2142960989
|
|
NM_000018.4(ACADVL):c.1011C>T (p.Leu337=)
|
|
|
NM_000018.4(ACADVL):c.1013_1016del (p.Asn338fs)
|
|
|
NM_000018.4(ACADVL):c.1015A>T (p.Asn339Tyr)
|
rs2071293900
|
|
NM_000018.4(ACADVL):c.1017T>C (p.Asn339=)
|
rs2142980519
|
|
NM_000018.4(ACADVL):c.1019G>A (p.Gly340Glu)
|
rs934797393
|
|
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)
|
rs934797393
|
|
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr)
|
rs1064793382
|
|
NM_000018.4(ACADVL):c.1023G>A (p.Arg341=)
|
rs373411700
|
|
NM_000018.4(ACADVL):c.102C>T (p.Gly34=)
|
rs2142961120
|
|
NM_000018.4(ACADVL):c.1031T>G (p.Met344Arg)
|
rs2142980587
|
|
NM_000018.4(ACADVL):c.1037C>A (p.Ala346Glu)
|
|
|
NM_000018.4(ACADVL):c.1037C>G (p.Ala346Gly)
|
|
|
NM_000018.4(ACADVL):c.1039del (p.Ala347fs)
|
rs2071295244
|
|
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)
|
rs1329022268
|
|
NM_000018.4(ACADVL):c.103_112dup (p.Arg38fs)
|
|
|
NM_000018.4(ACADVL):c.1043T>C (p.Leu348Pro)
|
|
|
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)
|
rs1555528508
|
|
NM_000018.4(ACADVL):c.1045G>C (p.Ala349Pro)
|
rs1567565733
|
|
NM_000018.4(ACADVL):c.1046C>A (p.Ala349Glu)
|
rs1227564457
|
|
NM_000018.4(ACADVL):c.1048G>A (p.Gly350Ser)
|
rs767138639
|
|
NM_000018.4(ACADVL):c.1049G>A (p.Gly350Asp)
|
|
|
NM_000018.4(ACADVL):c.1049G>C (p.Gly350Ala)
|
rs1343647718
|
|
NM_000018.4(ACADVL):c.1049G>T (p.Gly350Val)
|
rs1343647718
|
|
NM_000018.4(ACADVL):c.104del (p.Pro35fs)
|
rs1443151475
|
|
NM_000018.4(ACADVL):c.1052C>T (p.Thr351Ile)
|
rs796051911
|
|
NM_000018.4(ACADVL):c.1054A>G (p.Met352Val)
|
|
|
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
|
|
|
NM_000018.4(ACADVL):c.1055T>G (p.Met352Arg)
|
rs2071296504
|
|
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs)
|
rs2071296591
|
|
NM_000018.4(ACADVL):c.1058G>A (p.Arg353Lys)
|
|
|
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs)
|
rs1402646371
|
|
NM_000018.4(ACADVL):c.105_109del (p.Arg37fs)
|
|
|
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)
|
rs1555527532
|
|
NM_000018.4(ACADVL):c.1062C>A (p.Gly354=)
|
rs2142980779
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
NM_000018.4(ACADVL):c.1063_1064delinsGG (p.Ile355Gly)
|
|
|
NM_000018.4(ACADVL):c.1064T>G (p.Ile355Ser)
|
rs1351976589
|
|
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)
|
|
|
NM_000018.4(ACADVL):c.1073del (p.Lys358fs)
|
|
|
NM_000018.4(ACADVL):c.1074G>A (p.Lys358=)
|
|
|
NM_000018.4(ACADVL):c.1077+10C>G
|
|
|
NM_000018.4(ACADVL):c.1077+11T>A
|
|
|
NM_000018.4(ACADVL):c.1077+13C>T
|
|
|
NM_000018.4(ACADVL):c.1077+15C>A
|
|
|
NM_000018.4(ACADVL):c.1077+1G>A
|
rs140989450
|
|
NM_000018.4(ACADVL):c.1077+2T>A
|
|
|
NM_000018.4(ACADVL):c.1077+2T>C
|
rs1057516370
|
|
NM_000018.4(ACADVL):c.1077+3_1077+6del
|
rs2071298305
|
|
NM_000018.4(ACADVL):c.1077+5G>A
|
|
|
NM_000018.4(ACADVL):c.1077+6T>A
|
|
|
NM_000018.4(ACADVL):c.1077+9C>G
|
rs2142980927
|
|
NM_000018.4(ACADVL):c.1077_1077+1del
|
rs2142980883
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
NM_000018.4(ACADVL):c.1078-10C>T
|
rs748209172
|
|
NM_000018.4(ACADVL):c.1078-15T>A
|
rs2071310800
|
|
NM_000018.4(ACADVL):c.1078-18G>A
|
|
|
NM_000018.4(ACADVL):c.1078-2A>G
|
rs2142981920
|
|
NM_000018.4(ACADVL):c.1078-5T>G
|
rs1266629718
|
|
NM_000018.4(ACADVL):c.1078-8T>C
|
rs1597531722
|
|
NM_000018.4(ACADVL):c.1078-9C>T
|
rs2071311236
|
|
NM_000018.4(ACADVL):c.107C>T (p.Ala36Val)
|
rs1165915680
|
|
NM_000018.4(ACADVL):c.1080A>G (p.Val360=)
|
|
|
NM_000018.4(ACADVL):c.1080A>T (p.Val360=)
|
rs2142981942
|
|
NM_000018.4(ACADVL):c.1080_1182+2del
|
rs2142981921
|
|
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)
|
rs1331739604
|
|
NM_000018.4(ACADVL):c.1081G>T (p.Asp361Tyr)
|
|
|
NM_000018.4(ACADVL):c.1082A>G (p.Asp361Gly)
|
rs1214845060
|
|
NM_000018.4(ACADVL):c.1089C>T (p.Ala363=)
|
rs774273664
|
|
NM_000018.4(ACADVL):c.108C>T (p.Ala36=)
|
|
|
NM_000018.4(ACADVL):c.1092T>C (p.Thr364=)
|
rs745742925
|
|
NM_000018.4(ACADVL):c.1093A>G (p.Asn365Asp)
|
rs988045058
|
|
NM_000018.4(ACADVL):c.1093_1094insT (p.Asn365fs)
|
rs2142982040
|
|
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.1098T>C (p.Arg366=)
|
rs2142982087
|
|
NM_000018.4(ACADVL):c.1101C>A (p.Thr367=)
|
|
|
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.1103A>T (p.Gln368Leu)
|
rs776063244
|
|
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)
|
rs398123080
|
|
NM_000018.4(ACADVL):c.110G>A (p.Arg37Gln)
|
|
|
NM_000018.4(ACADVL):c.1111G>A (p.Glu371Lys)
|
|
|
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)
|
rs1057517416
|
|
NM_000018.4(ACADVL):c.1121A>C (p.His374Pro)
|
|
|
NM_000018.4(ACADVL):c.1128T>C (p.Phe376=)
|
|
|
NM_000018.4(ACADVL):c.1128T>G (p.Phe376Leu)
|
|
|
NM_000018.4(ACADVL):c.1131G>A (p.Gly377=)
|
rs2142982245
|
|
NM_000018.4(ACADVL):c.1138C>T (p.Gln380Ter)
|
rs781467053
|
|
NM_000018.4(ACADVL):c.1138dup (p.Gln380fs)
|
rs2142982293
|
|
NM_000018.4(ACADVL):c.1140G>A (p.Gln380=)
|
rs748299183
|
|
NM_000018.4(ACADVL):c.1141G>A (p.Glu381Lys)
|
rs1212266005
|
|
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.1146G>A (p.Lys382=)
|
rs1057523504
|
|
NM_000018.4(ACADVL):c.1147C>A (p.Leu383Met)
|
|
|
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val)
|
rs756194870
|
|
NM_000018.4(ACADVL):c.1147C>T (p.Leu383=)
|
rs756194870
|
|
NM_000018.4(ACADVL):c.1151_1154dup (p.Met386fs)
|
rs2142982389
|
|
NM_000018.4(ACADVL):c.1153C>A (p.Arg385=)
|
|
|
NM_000018.4(ACADVL):c.1155del (p.Met386fs)
|
|
|
NM_000018.4(ACADVL):c.1158G>A (p.Met386Ile)
|
rs2142982416
|
|
NM_000018.4(ACADVL):c.1159G>C (p.Val387Leu)
|
rs1422904205
|
|
NM_000018.4(ACADVL):c.1162A>T (p.Met388Leu)
|
|
|
NM_000018.4(ACADVL):c.1167G>A (p.Leu389=)
|
rs2142982468
|
|
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
|
|
|
NM_000018.4(ACADVL):c.1170G>C (p.Gln390His)
|
rs775196157
|
|
NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter)
|
rs2071316298
|
|
NM_000018.4(ACADVL):c.1173T>C (p.Tyr391=)
|
rs2071316298
|
|
NM_000018.4(ACADVL):c.1174G>A (p.Val392Ile)
|
|
|
NM_000018.4(ACADVL):c.1176A>G (p.Val392=)
|
rs2071316566
|
|
NM_000018.4(ACADVL):c.1179T>C (p.Thr393=)
|
|
|
NM_000018.4(ACADVL):c.1182+16G>T
|
|
|
NM_000018.4(ACADVL):c.1182+18C>G
|
|
|
NM_000018.4(ACADVL):c.1182+18C>T
|
|
|
NM_000018.4(ACADVL):c.1182+1G>T
|
|
|
NM_000018.4(ACADVL):c.1182+2T>C
|
rs1555528635
|
|
NM_000018.4(ACADVL):c.1182+2dup
|
rs1597532215
|
|
NM_000018.4(ACADVL):c.1182+3G>A
|
rs376281637
|
|
NM_000018.4(ACADVL):c.1182+5G>A
|
|
|
NM_000018.4(ACADVL):c.1183-11T>C
|
|
|
NM_000018.4(ACADVL):c.1183-1G>A
|
rs1057516818
|
|
NM_000018.4(ACADVL):c.1183-2A>C
|
|
|
NM_000018.4(ACADVL):c.1183-2dup
|
rs1555528721
|
|
NM_000018.4(ACADVL):c.1183-4T>A
|
rs2142984151
|
|
NM_000018.4(ACADVL):c.1183-7A>G
|
rs750441118
|
|
NM_000018.4(ACADVL):c.1185C>G (p.Ser395=)
|
|
|
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val)
|
rs2071337130
|
|
NM_000018.4(ACADVL):c.1192_1206dup (p.Tyr398_Ala402dup)
|
rs2142984192
|
|
NM_000018.4(ACADVL):c.1193_1194insGCA (p.Tyr398Ter)
|
rs2071337202
|
|
NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter)
|
rs1597533847
|
|
NM_000018.4(ACADVL):c.1194C>G (p.Tyr398Ter)
|
|
|
NM_000018.4(ACADVL):c.119A>G (p.Tyr40Cys)
|
|
|
NM_000018.4(ACADVL):c.11C>A (p.Ala4Asp)
|
rs1019684161
|
|
NM_000018.4(ACADVL):c.1200G>A (p.Val400=)
|
rs1597533902
|
|
NM_000018.4(ACADVL):c.1200G>C (p.Val400=)
|
rs1597533902
|
|
NM_000018.4(ACADVL):c.1205C>A (p.Ala402Asp)
|
rs727503793
|
|
NM_000018.4(ACADVL):c.1205C>T (p.Ala402Val)
|
rs727503793
|
|
NM_000018.4(ACADVL):c.1213G>A (p.Asp405Asn)
|
|
|
NM_000018.4(ACADVL):c.1213G>C (p.Asp405His)
|
|
|
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)
|
rs2071338251
|
|
NM_000018.4(ACADVL):c.1218G>A (p.Gln406=)
|
rs1597533984
|
|
NM_000018.4(ACADVL):c.1222G>A (p.Ala408Thr)
|
rs2071338597
|
|
NM_000018.4(ACADVL):c.1224C>A (p.Ala408=)
|
|
|
NM_000018.4(ACADVL):c.1226C>G (p.Thr409Arg)
|
rs113994169
|
|
NM_000018.4(ACADVL):c.1227G>C (p.Thr409=)
|
|
|
NM_000018.4(ACADVL):c.1233C>G (p.Phe411Leu)
|
|
|
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.1240G>A (p.Glu414Lys)
|
|
|
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)
|
rs1597534120
|
|
NM_000018.4(ACADVL):c.1242G>A (p.Glu414=)
|
rs2142984490
|
|
NM_000018.4(ACADVL):c.1243GCC[1] (p.Ala416del)
|
|
|
NM_000018.4(ACADVL):c.1245C>A (p.Ala415=)
|
rs1481416358
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
NM_000018.4(ACADVL):c.1248C>T (p.Ala416=)
|
|
|
NM_000018.4(ACADVL):c.1250T>G (p.Ile417Ser)
|
rs2071340219
|
|
NM_000018.4(ACADVL):c.1251C>T (p.Ile417=)
|
|
|
NM_000018.4(ACADVL):c.1251del (p.Ser418fs)
|
rs2142984544
|
|
NM_000018.4(ACADVL):c.1253G>A (p.Ser418Asn)
|
rs1555528737
|
|
NM_000018.4(ACADVL):c.1254C>G (p.Ser418Arg)
|
rs2071340371
|
|
NM_000018.4(ACADVL):c.1257A>G (p.Lys419=)
|
rs2142984575
|
|
NM_000018.4(ACADVL):c.1263T>C (p.Phe421=)
|
|
|
NM_000018.4(ACADVL):c.1266C>T (p.Gly422=)
|
|
|
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu)
|
rs1451455641
|
|
NM_000018.4(ACADVL):c.1269+10C>T
|
rs1555528738
|
|
NM_000018.4(ACADVL):c.1269+11A>G
|
|
|
NM_000018.4(ACADVL):c.1269+13G>C
|
|
|
NM_000018.4(ACADVL):c.1269+13dup
|
rs2071341157
|
|
NM_000018.4(ACADVL):c.1269+14C>A
|
|
|
NM_000018.4(ACADVL):c.1269+15A>G
|
|
|
NM_000018.4(ACADVL):c.1269+16T>C
|
rs2142984714
|
|
NM_000018.4(ACADVL):c.1269+1G>A
|
rs773401248
|
|
NM_000018.4(ACADVL):c.1269+1del
|
rs2071340733
|
|
NM_000018.4(ACADVL):c.1269+20G>A
|
|
|
NM_000018.4(ACADVL):c.1269+22dup
|
rs780870246
|
|
NM_000018.4(ACADVL):c.1269+7T>G
|
|
|
NM_000018.4(ACADVL):c.1269+9C>G
|
rs2142984643
|
|
NM_000018.4(ACADVL):c.126G>T (p.Gly42=)
|
|
|
NM_000018.4(ACADVL):c.1270-17C>G
|
|
|
NM_000018.4(ACADVL):c.1270-17C>T
|
|
|
NM_000018.4(ACADVL):c.1270-18T>C
|
|
|
NM_000018.4(ACADVL):c.1270-20C>T
|
|
|
NM_000018.4(ACADVL):c.1270-38A>G
|
rs1555528742
|
|
NM_000018.4(ACADVL):c.1270-6C>T
|
|
|
NM_000018.4(ACADVL):c.1270-9T>G
|
rs2142984921
|
|
NM_000018.4(ACADVL):c.1274C>T (p.Ala425Val)
|
|
|
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)
|
rs1419478766
|
|
NM_000018.4(ACADVL):c.1278C>T (p.Ala426=)
|
|
|
NM_000018.4(ACADVL):c.127G>A (p.Gly43Ser)
|
|
|
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)
|
rs1057516519
|
|
NM_000018.4(ACADVL):c.1281G>C (p.Trp427Cys)
|
rs1567567312
|
|
NM_000018.4(ACADVL):c.1283del (p.Lys428fs)
|
rs1555528745
|
|
NM_000018.4(ACADVL):c.1287G>A (p.Val429=)
|
rs999226548
|
|
NM_000018.4(ACADVL):c.128del (p.Gly43fs)
|
rs2071123075
|
|
NM_000018.4(ACADVL):c.1290dup (p.Asp431fs)
|
|
|
NM_000018.4(ACADVL):c.1291G>C (p.Asp431His)
|
rs781658827
|
|
NM_000018.4(ACADVL):c.1292A>G (p.Asp431Gly)
|
rs2142985073
|
|
NM_000018.4(ACADVL):c.1293T>C (p.Asp431=)
|
rs2142985083
|
|
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)
|
rs1597534677
|
|
NM_000018.4(ACADVL):c.1297T>C (p.Cys433Arg)
|
rs886053374
|
|
NM_000018.4(ACADVL):c.129T>A (p.Gly43=)
|
rs727503789
|
|
NM_000018.4(ACADVL):c.1308C>A (p.Ile436=)
|
rs2142985123
|
|
NM_000018.4(ACADVL):c.1308C>T (p.Ile436=)
|
|
|
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.1314G>A (p.Gly438=)
|
rs2142985177
|
|
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>C (p.Gly439Ala)
|
rs533055438
|
|
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.1317T>A (p.Gly439=)
|
rs2142985210
|
|
NM_000018.4(ACADVL):c.1317T>C (p.Gly439=)
|
rs2142985210
|
|
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.1322G>C (p.Gly441Ala)
|
rs2309689
|
|
NM_000018.4(ACADVL):c.1323C>T (p.Gly441=)
|
|
|
NM_000018.4(ACADVL):c.1328T>C (p.Met443Thr)
|
rs886043236
|
|
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)
|
rs886043236
|
|
NM_000018.4(ACADVL):c.1329G>A (p.Met443Ile)
|
rs2071347136
|
|
NM_000018.4(ACADVL):c.132C>T (p.Ala44=)
|
rs1237892223
|
|
NM_000018.4(ACADVL):c.1332+10G>C
|
rs763921736
|
|
NM_000018.4(ACADVL):c.1332+11G>T
|
|
|
NM_000018.4(ACADVL):c.1332+16C>T
|
|
|
NM_000018.4(ACADVL):c.1332+19C>G
|
|
|
NM_000018.4(ACADVL):c.1332+1G>C
|
|
|
NM_000018.4(ACADVL):c.1332+2T>A
|
|
|
NM_000018.4(ACADVL):c.1332+2T>C
|
|
|
NM_000018.4(ACADVL):c.1332+5A>G
|
|
|
NM_000018.4(ACADVL):c.1332+7G>A
|
rs1382340897
|
|
NM_000018.4(ACADVL):c.1332+9_1332+10insTCC
|
|
|
NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)
|
rs1597534796
|
|
NM_000018.4(ACADVL):c.1333-10C>T
|
|
|
NM_000018.4(ACADVL):c.1333-16T>C
|
|
|
NM_000018.4(ACADVL):c.1333-17G>A
|
|
|
NM_000018.4(ACADVL):c.1333-18T>C
|
|
|
NM_000018.4(ACADVL):c.1333-20T>C
|
|
|
NM_000018.4(ACADVL):c.1333-21_1333-20del
|
|
|
NM_000018.4(ACADVL):c.1333-25T>C
|
rs770876053
|
|
NM_000018.4(ACADVL):c.1333-2A>T
|
rs1057517280
|
|
NM_000018.4(ACADVL):c.1333-3T>G
|
rs1057523216
|
|
NM_000018.4(ACADVL):c.1333-5G>T
|
|
|
NM_000018.4(ACADVL):c.1333-7G>A
|
rs1228196483
|
|
NM_000018.4(ACADVL):c.1333-7G>C
|
|
|
NM_000018.4(ACADVL):c.1333-8T>C
|
|
|
NM_000018.4(ACADVL):c.1335A>G (p.Glu445=)
|
|
|
NM_000018.4(ACADVL):c.1338T>C (p.Pro446=)
|
rs2142985783
|
|
NM_000018.4(ACADVL):c.1340G>A (p.Gly447Glu)
|
rs1555528779
|
|
NM_000018.4(ACADVL):c.1342G>A (p.Val448Ile)
|
rs2071353533
|
|
NM_000018.4(ACADVL):c.1342G>C (p.Val448Leu)
|
|
|
NM_000018.4(ACADVL):c.1346A>G (p.Glu449Gly)
|
rs765346654
|
|
NM_000018.4(ACADVL):c.1347G>A (p.Glu449=)
|
|
|
NM_000018.4(ACADVL):c.1348C>T (p.Arg450Cys)
|
|
|
NM_000018.4(ACADVL):c.1355dup (p.Arg453fs)
|
rs1057517331
|
|
NM_000018.4(ACADVL):c.1358G>C (p.Arg453Pro)
|
rs138058572
|
|
NM_000018.4(ACADVL):c.1360G>C (p.Asp454His)
|
rs1419606204
|
|
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)
|
rs794727112
|
|
NM_000018.4(ACADVL):c.1367G>C (p.Arg456Pro)
|
rs794727112
|
|
NM_000018.4(ACADVL):c.1370T>C (p.Ile457Thr)
|
rs1392710608
|
|
NM_000018.4(ACADVL):c.1374C>T (p.Phe458=)
|
|
|
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.1377G>C (p.Arg459=)
|
rs2142985989
|
|
NM_000018.4(ACADVL):c.1377del (p.Ile460fs)
|
|
|
NM_000018.4(ACADVL):c.138+10C>A
|
rs1057523013
|
|
NM_000018.4(ACADVL):c.138+10C>T
|
rs1057523013
|
|
NM_000018.4(ACADVL):c.138+11G>T
|
|
|
NM_000018.4(ACADVL):c.138+15C>T
|
|
|
NM_000018.4(ACADVL):c.138+16C>A
|
|
|
NM_000018.4(ACADVL):c.138+17T>C
|
rs2142961713
|
|
NM_000018.4(ACADVL):c.138+2dup
|
rs1555527548
|
|
NM_000018.4(ACADVL):c.138+5G>A
|
rs2071124642
|
|
NM_000018.4(ACADVL):c.138+7C>T
|
rs1462406529
|
|
NM_000018.4(ACADVL):c.1380C>T (p.Ile460=)
|
rs2071355303
|
|
NM_000018.4(ACADVL):c.1382T>C (p.Phe461Ser)
|
rs755432945
|
|
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)
|
rs2071355499
|
|
NM_000018.4(ACADVL):c.1387G>C (p.Gly463Arg)
|
rs2071355667
|
|
NM_000018.4(ACADVL):c.1389G>C (p.Gly463=)
|
rs377305356
|
|
NM_000018.4(ACADVL):c.1389del (p.Thr464fs)
|
rs398123082
|
|
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)
|
rs398123082
|
|
NM_000018.4(ACADVL):c.139-11T>C
|
|
|
NM_000018.4(ACADVL):c.139-12C>G
|
|
|
NM_000018.4(ACADVL):c.139-14G>C
|
rs1015495051
|
|
NM_000018.4(ACADVL):c.139-15C>T
|
|
|
NM_000018.4(ACADVL):c.139-16C>A
|
|
|
NM_000018.4(ACADVL):c.139-16C>T
|
|
|
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.139-3C>T
|
rs1555527630
|
|
NM_000018.4(ACADVL):c.139-5C>G
|
rs769138546
|
|
NM_000018.4(ACADVL):c.139-5C>T
|
|
|
NM_000018.4(ACADVL):c.139-7T>C
|
rs2142963859
|
|
NM_000018.4(ACADVL):c.1391C>G (p.Thr464Arg)
|
rs1555528796
|
|
NM_000018.4(ACADVL):c.1391C>T (p.Thr464Ile)
|
rs1555528796
|
|
NM_000018.4(ACADVL):c.1395T>C (p.Asn465=)
|
rs1301241478
|
|
NM_000018.4(ACADVL):c.1398C>T (p.Asp466=)
|
rs2142986089
|
|
NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly)
|
rs747672165
|
|
NM_000018.4(ACADVL):c.1400T>A (p.Ile467Asn)
|
rs2142986109
|
|
NM_000018.4(ACADVL):c.1407G>A (p.Arg469=)
|
rs1597535653
|
|
NM_000018.4(ACADVL):c.1409del (p.Leu470fs)
|
rs2071356603
|
|
NM_000018.4(ACADVL):c.1410G>C (p.Leu470=)
|
rs1281251073
|
|
NM_000018.4(ACADVL):c.1411T>C (p.Phe471Leu)
|
|
|
NM_000018.4(ACADVL):c.1413T>G (p.Phe471Leu)
|
|
|
NM_000018.4(ACADVL):c.1416G>C (p.Val472=)
|
rs778848546
|
|
NM_000018.4(ACADVL):c.1417del (p.Ala473fs)
|
|
|
NM_000018.4(ACADVL):c.141G>T (p.Leu47=)
|
|
|
NM_000018.4(ACADVL):c.1420C>T (p.Leu474=)
|
rs771882915
|
|
NM_000018.4(ACADVL):c.1422G>A (p.Leu474=)
|
rs2142986233
|
|
NM_000018.4(ACADVL):c.1427G>A (p.Gly476Asp)
|
rs2071357482
|
|
NM_000018.4(ACADVL):c.1429T>C (p.Cys477Arg)
|
rs2071357577
|
|
NM_000018.4(ACADVL):c.142G>A (p.Ala48Thr)
|
|
|
NM_000018.4(ACADVL):c.1430G>A (p.Cys477Tyr)
|
rs1555528803
|
|
NM_000018.4(ACADVL):c.1434+11_1434+12del
|
rs1567567959
|
|
NM_000018.4(ACADVL):c.1434+12A>C
|
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000018.4(ACADVL):c.1434+14T>C
|
rs202217537
|
|
NM_000018.4(ACADVL):c.1434+15dup
|
|
|
NM_000018.4(ACADVL):c.1434+18G>A
|
|
|
NM_000018.4(ACADVL):c.1434+19T>C
|
|
|
NM_000018.4(ACADVL):c.1434+20G>A
|
|
|
NM_000018.4(ACADVL):c.1434+20G>C
|
|
|
NM_000018.4(ACADVL):c.1434+20G>T
|
|
|
NM_000018.4(ACADVL):c.1434+24G>A
|
rs1555528806
|
|
NM_000018.4(ACADVL):c.1434+27G>A
|
rs1271483942
|
|
NM_000018.4(ACADVL):c.1434+2T>G
|
rs1555528804
|
|
NM_000018.4(ACADVL):c.1434+6_1434+8dup
|
|
|
NM_000018.4(ACADVL):c.1435-15C>A
|
|
|
NM_000018.4(ACADVL):c.1435-15C>T
|
rs548935465
|
|
NM_000018.4(ACADVL):c.1435-16C>T
|
|
|
NM_000018.4(ACADVL):c.1435-19G>A
|
rs1223218362
|
|
NM_000018.4(ACADVL):c.1435-19G>T
|
|
|
NM_000018.4(ACADVL):c.1435-20T>C
|
|
|
NM_000018.4(ACADVL):c.1435-27T>A
|
rs1281849589
|
|
NM_000018.4(ACADVL):c.1435-3T>A
|
|
|
NM_000018.4(ACADVL):c.1435-4A>G
|
|
|
NM_000018.4(ACADVL):c.1435-4A>T
|
rs1412310624
|
|
NM_000018.4(ACADVL):c.1435-4del
|
|
|
NM_000018.4(ACADVL):c.1435-5C>T
|
|
|
NM_000018.4(ACADVL):c.1435-9C>A
|
rs1280800189
|
|
NM_000018.4(ACADVL):c.1435-9C>T
|
rs1280800189
|
|
NM_000018.4(ACADVL):c.1435G>A (p.Asp479Asn)
|
rs2071362937
|
|
NM_000018.4(ACADVL):c.1437C>T (p.Asp479=)
|
rs779807335
|
|
NM_000018.4(ACADVL):c.143C>T (p.Ala48Val)
|
rs2142963990
|
|
NM_000018.4(ACADVL):c.1444_1448del (p.Lys482fs)
|
|
|
NM_000018.4(ACADVL):c.1445A>G (p.Lys482Arg)
|
rs2142986762
|
|
NM_000018.4(ACADVL):c.1446G>A (p.Lys482=)
|
|
|
NM_000018.4(ACADVL):c.1452C>T (p.Leu484=)
|
rs1555528820
|
|
NM_000018.4(ACADVL):c.1455T>C (p.Ser485=)
|
|
|
NM_000018.4(ACADVL):c.1455dup (p.Gly486fs)
|
|
|
NM_000018.4(ACADVL):c.1457G>T (p.Gly486Val)
|
|
|
NM_000018.4(ACADVL):c.145_146dup (p.Asp50fs)
|
rs1567560601
|
|
NM_000018.4(ACADVL):c.1464C>G (p.Gly488=)
|
|
|
NM_000018.4(ACADVL):c.1467T>C (p.Ser489=)
|
|
|
NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg)
|
rs771117714
|
|
NM_000018.4(ACADVL):c.1469C>G (p.Ala490Gly)
|
|
|
NM_000018.4(ACADVL):c.1469C>T (p.Ala490Val)
|
|
|
NM_000018.4(ACADVL):c.1475dup (p.Asn493fs)
|
|
|
NM_000018.4(ACADVL):c.1476G>A (p.Lys492=)
|
rs764757180
|
|
NM_000018.4(ACADVL):c.1482C>T (p.Pro494=)
|
rs2071364748
|
|
NM_000018.4(ACADVL):c.1486G>A (p.Gly496Arg)
|
|
|
NM_000018.4(ACADVL):c.1490del (p.Asn497fs)
|
|
|
NM_000018.4(ACADVL):c.1496G>C (p.Gly499Ala)
|
rs764943140
|
|
NM_000018.4(ACADVL):c.1496G>T (p.Gly499Val)
|
rs764943140
|
|
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del)
|
rs762619071
|
|
NM_000018.4(ACADVL):c.1503G>C (p.Leu501=)
|
rs2142987026
|
|
NM_000018.4(ACADVL):c.1505del (p.Leu502fs)
|
|
|
NM_000018.4(ACADVL):c.1508G>C (p.Gly503Ala)
|
rs2142987050
|
|
NM_000018.4(ACADVL):c.1508del (p.Gly503fs)
|
rs1214222702
|
|
NM_000018.4(ACADVL):c.1510G>A (p.Glu504Lys)
|
|
|
NM_000018.4(ACADVL):c.1510G>C (p.Glu504Gln)
|
rs376795010
|
|
NM_000018.4(ACADVL):c.1519A>G (p.Lys507Glu)
|
|
|
NM_000018.4(ACADVL):c.1520A>T (p.Lys507Ile)
|
|
|
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
|
|
|
NM_000018.4(ACADVL):c.1527G>A (p.Leu509=)
|
rs1447518560
|
|
NM_000018.4(ACADVL):c.1530G>A (p.Arg510=)
|
rs2142987170
|
|
NM_000018.4(ACADVL):c.1532+10G>A
|
rs775913504
|
|
NM_000018.4(ACADVL):c.1532+19C>T
|
|
|
NM_000018.4(ACADVL):c.1532+1G>A
|
rs727503794
|
|
NM_000018.4(ACADVL):c.1532+20C>G
|
rs1291717212
|
|
NM_000018.4(ACADVL):c.1532+2T>C
|
rs111851815
|
|
NM_000018.4(ACADVL):c.1532+6C>T
|
rs2071368248
|
|
NM_000018.4(ACADVL):c.1532+7T>A
|
rs534469222
|
|
NM_000018.4(ACADVL):c.1532+7T>C
|
rs534469222
|
|
NM_000018.4(ACADVL):c.1532G>C (p.Arg511Pro)
|
rs200771970
|
|
NM_000018.4(ACADVL):c.1533-12T>C
|
|
|
NM_000018.4(ACADVL):c.1533-13C>T
|
|
|
NM_000018.4(ACADVL):c.1533-15C>T
|
rs2142987494
|
|
NM_000018.4(ACADVL):c.1533-1G>C
|
|
|
NM_000018.4(ACADVL):c.1533-2A>G
|
|
|
NM_000018.4(ACADVL):c.1533-4T>C
|
|
|
NM_000018.4(ACADVL):c.1533-6T>C
|
|
|
NM_000018.4(ACADVL):c.1533-7del
|
|
|
NM_000018.4(ACADVL):c.1533G>A (p.Arg511=)
|
rs886038214
|
|
NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs)
|
rs2071371983
|
|
NM_000018.4(ACADVL):c.1536G>A (p.Arg512=)
|
|
|
NM_000018.4(ACADVL):c.1536G>C (p.Arg512=)
|
|
|
NM_000018.4(ACADVL):c.1538C>A (p.Ala513Glu)
|
rs766003820
|
|
NM_000018.4(ACADVL):c.1538C>G (p.Ala513Gly)
|
rs766003820
|
|
NM_000018.4(ACADVL):c.1540G>C (p.Gly514Arg)
|
rs370282954
|
|
NM_000018.4(ACADVL):c.1542_1543insA (p.Leu515fs)
|
|
|
NM_000018.4(ACADVL):c.1545_1546delinsC (p.Gly516fs)
|
|
|
NM_000018.4(ACADVL):c.1552G>C (p.Gly518Arg)
|
|
|
NM_000018.4(ACADVL):c.1557G>A (p.Leu519=)
|
|
|
NM_000018.4(ACADVL):c.1557del (p.Ser520fs)
|
rs2071373150
|
|
NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter)
|
rs2071146837
|
|
NM_000018.4(ACADVL):c.1567G>T (p.Gly523Ter)
|
|
|
NM_000018.4(ACADVL):c.156A>C (p.Ser52=)
|
|
|
NM_000018.4(ACADVL):c.156A>G (p.Ser52=)
|
|
|
NM_000018.4(ACADVL):c.1572T>C (p.Leu524=)
|
|
|
NM_000018.4(ACADVL):c.1578C>T (p.His526=)
|
rs376504514
|
|
NM_000018.4(ACADVL):c.1580C>T (p.Pro527Leu)
|
|
|
NM_000018.4(ACADVL):c.1585T>C (p.Leu529=)
|
rs2142987882
|
|
NM_000018.4(ACADVL):c.1587G>T (p.Leu529Phe)
|
rs2142987900
|
|
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)
|
rs1060499596
|
|
NM_000018.4(ACADVL):c.1605+11A>T
|
|
|
NM_000018.4(ACADVL):c.1605+12G>A
|
|
|
NM_000018.4(ACADVL):c.1605+13G>A
|
|
|
NM_000018.4(ACADVL):c.1605+15G>T
|
|
|
NM_000018.4(ACADVL):c.1605+1G>A
|
|
|
NM_000018.4(ACADVL):c.1605+1G>C
|
rs2142988018
|
|
NM_000018.4(ACADVL):c.1605+1G>T
|
rs2142988018
|
|
NM_000018.4(ACADVL):c.1605+20G>A
|
|
|
NM_000018.4(ACADVL):c.1605+2T>A
|
rs1597537351
|
|
NM_000018.4(ACADVL):c.1605+2T>C
|
rs1597537351
|
|
NM_000018.4(ACADVL):c.1605+5_1605+6inv
|
|
|
NM_000018.4(ACADVL):c.1605+6_1605+7delinsCC
|
rs1064795676
|
|
NM_000018.4(ACADVL):c.1605+6_1605+7inv
|
|
|
NM_000018.4(ACADVL):c.1605+7G>C
|
rs572010910
|
|
NM_000018.4(ACADVL):c.1605+8G>A
|
rs1329414728
|
|
NM_000018.4(ACADVL):c.1605+9C>T
|
rs1370192669
|
|
NM_000018.4(ACADVL):c.1606-10A>C
|
rs2071381723
|
|
NM_000018.4(ACADVL):c.1606-11C>T
|
|
|
NM_000018.4(ACADVL):c.1606-16G>A
|
|
|
NM_000018.4(ACADVL):c.1606-17T>C
|
|
|
NM_000018.4(ACADVL):c.1606-19A>G
|
|
|
NM_000018.4(ACADVL):c.1606-1G>A
|
rs1057517386
|
|
NM_000018.4(ACADVL):c.1606-28G>A
|
rs773931227
|
|
NM_000018.4(ACADVL):c.1606-2A>C
|
rs113467582
|
|
NM_000018.4(ACADVL):c.1606-36G>A
|
rs890862631
|
|
NM_000018.4(ACADVL):c.1606-3_1606-2del
|
|
|
NM_000018.4(ACADVL):c.1606-42C>G
|
rs372357967
|
|
NM_000018.4(ACADVL):c.1606-42C>T
|
rs372357967
|
|
NM_000018.4(ACADVL):c.1606-5T>C
|
|
|
NM_000018.4(ACADVL):c.1606-5_1606-4del
|
|
|
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.1616C>T (p.Ala539Val)
|
|
|
NM_000018.4(ACADVL):c.1617T>C (p.Ala539=)
|
rs1555528948
|
|
NM_000018.4(ACADVL):c.1619T>C (p.Leu540Pro)
|
|
|
NM_000018.4(ACADVL):c.161C>T (p.Ser54Phe)
|
|
|
NM_000018.4(ACADVL):c.1620G>A (p.Leu540=)
|
|
|
NM_000018.4(ACADVL):c.1623G>A (p.Glu541=)
|
|
|
NM_000018.4(ACADVL):c.1624C>T (p.Gln542Ter)
|
|
|
NM_000018.4(ACADVL):c.162C>T (p.Ser54=)
|
rs2142964086
|
|
NM_000018.4(ACADVL):c.1630G>A (p.Ala544Thr)
|
|
|
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)
|
rs1131691553
|
|
NM_000018.4(ACADVL):c.1632del (p.Thr545fs)
|
|
|
NM_000018.4(ACADVL):c.1636del (p.Val546fs)
|
|
|
NM_000018.4(ACADVL):c.1638G>C (p.Val546=)
|
rs2142988749
|
|
NM_000018.4(ACADVL):c.1639G>A (p.Val547Met)
|
rs2071384107
|
|
NM_000018.4(ACADVL):c.1640del (p.Val547fs)
|
|
|
NM_000018.4(ACADVL):c.1641G>A (p.Val547=)
|
|
|
NM_000018.4(ACADVL):c.1643A>T (p.Glu548Val)
|
rs2071384243
|
|
NM_000018.4(ACADVL):c.1644G>A (p.Glu548=)
|
rs2071384402
|
|
NM_000018.4(ACADVL):c.1650G>A (p.Lys550=)
|
|
|
NM_000018.4(ACADVL):c.1652_1653dup (p.Ile552Ter)
|
|
|
NM_000018.4(ACADVL):c.1657A>C (p.Lys553Gln)
|
rs1555528957
|
|
NM_000018.4(ACADVL):c.1659del (p.Lys553fs)
|
|
|
NM_000018.4(ACADVL):c.165C>T (p.His55=)
|
rs1303022654
|
|
NM_000018.4(ACADVL):c.1662C>T (p.His554=)
|
|
|
NM_000018.4(ACADVL):c.1663AAG[1] (p.Lys556del)
|
rs866424446
|
|
NM_000018.4(ACADVL):c.1668G>A (p.Lys556=)
|
rs1295605212
|
|
NM_000018.4(ACADVL):c.1673T>C (p.Ile558Thr)
|
rs1256129137
|
|
NM_000018.4(ACADVL):c.1678+14A>G
|
|
|
NM_000018.4(ACADVL):c.1678+17C>G
|
rs776565824
|
|
NM_000018.4(ACADVL):c.1678+17C>T
|
|
|
NM_000018.4(ACADVL):c.1678+18C>T
|
|
|
NM_000018.4(ACADVL):c.1678+1G>A
|
|
|
NM_000018.4(ACADVL):c.1678+1G>T
|
|
|
NM_000018.4(ACADVL):c.1678+27C>A
|
rs759729168
|
|
NM_000018.4(ACADVL):c.1678+29T>C
|
rs1023643662
|
|
NM_000018.4(ACADVL):c.1678+3_1678+6del
|
rs759135941
|
|
NM_000018.4(ACADVL):c.1678+7G>A
|
rs771685940
|
|
NM_000018.4(ACADVL):c.1678+9_1678+10delinsAG
|
rs2142989035
|
|
NM_000018.4(ACADVL):c.1678+9_1678+10delinsCG
|
rs2142989035
|
|
NM_000018.4(ACADVL):c.1679-10T>C
|
|
|
NM_000018.4(ACADVL):c.1679-11C>G
|
|
|
NM_000018.4(ACADVL):c.1679-13A>C
|
rs768421738
|
|
NM_000018.4(ACADVL):c.1679-13A>G
|
|
|
NM_000018.4(ACADVL):c.1679-16C>G
|
|
|
NM_000018.4(ACADVL):c.1679-18A>C
|
|
|
NM_000018.4(ACADVL):c.1679-19C>T
|
|
|
NM_000018.4(ACADVL):c.1679-1G>A
|
|
|
NM_000018.4(ACADVL):c.1679-40T>G
|
|
|
NM_000018.4(ACADVL):c.1679-5G>A
|
rs1302758825
|
|
NM_000018.4(ACADVL):c.1679-5del
|
rs1555528999
|
|
NM_000018.4(ACADVL):c.1679-7C>T
|
rs776276526
|
|
NM_000018.4(ACADVL):c.167C>A (p.Pro56His)
|
rs2142964131
|
|
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
|
|
|
NM_000018.4(ACADVL):c.1683A>G (p.Glu561=)
|
rs1597539259
|
|
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs)
|
rs2071393587
|
|
NM_000018.4(ACADVL):c.168C>A (p.Pro56=)
|
|
|
NM_000018.4(ACADVL):c.168C>T (p.Pro56=)
|
rs544122648
|
|
NM_000018.4(ACADVL):c.1693C>T (p.Leu565=)
|
rs2142989804
|
|
NM_000018.4(ACADVL):c.1695G>T (p.Leu565=)
|
rs1279657316
|
|
NM_000018.4(ACADVL):c.1698G>A (p.Gln566=)
|
|
|
NM_000018.4(ACADVL):c.1699C>T (p.Arg567Trp)
|
rs864321651
|
|
NM_000018.4(ACADVL):c.16_32del (p.Met6fs)
|
rs1555527450
|
|
NM_000018.4(ACADVL):c.1701_1702delinsAG (p.Leu568Val)
|
rs2142989836
|
|
NM_000018.4(ACADVL):c.1704G>A (p.Leu568=)
|
rs2142989842
|
|
NM_000018.4(ACADVL):c.1707A>C (p.Ala569=)
|
|
|
NM_000018.4(ACADVL):c.1708G>T (p.Asp570Tyr)
|
rs2071394443
|
|
NM_000018.4(ACADVL):c.1710C>A (p.Asp570Glu)
|
rs759638134
|
|
NM_000018.4(ACADVL):c.1714dup (p.Ala572fs)
|
rs1555529004
|
|
NM_000018.4(ACADVL):c.1716C>G (p.Ala572=)
|
|
|
NM_000018.4(ACADVL):c.1716C>T (p.Ala572=)
|
rs2142989897
|
|
NM_000018.4(ACADVL):c.1719C>G (p.Ile573Met)
|
|
|
NM_000018.4(ACADVL):c.171T>A (p.Ser57=)
|
|
|
NM_000018.4(ACADVL):c.1720G>A (p.Asp574Asn)
|
|
|
NM_000018.4(ACADVL):c.1722C>T (p.Asp574=)
|
rs2142989956
|
|
NM_000018.4(ACADVL):c.1723dup (p.Leu575fs)
|
rs2071395312
|
|
NM_000018.4(ACADVL):c.1728T>C (p.Tyr576=)
|
|
|
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.1732A>G (p.Met578Val)
|
|
|
NM_000018.4(ACADVL):c.1736del (p.Val579fs)
|
|
|
NM_000018.4(ACADVL):c.1738del (p.Val580fs)
|
|
|
NM_000018.4(ACADVL):c.1739_1751del (p.Val580fs)
|
rs2142990005
|
|
NM_000018.4(ACADVL):c.1740G>T (p.Val580=)
|
|
|
NM_000018.4(ACADVL):c.1744C>T (p.Leu582Phe)
|
rs1466587776
|
|
NM_000018.4(ACADVL):c.1745T>C (p.Leu582Pro)
|
rs2142990030
|
|
NM_000018.4(ACADVL):c.1746C>T (p.Leu582=)
|
|
|
NM_000018.4(ACADVL):c.1747T>G (p.Ser583Ala)
|
|
|
NM_000018.4(ACADVL):c.1748C>A (p.Ser583Ter)
|
|
|
NM_000018.4(ACADVL):c.1749G>A (p.Ser583=)
|
rs771471327
|
|
NM_000018.4(ACADVL):c.174C>T (p.Asp58=)
|
|
|
NM_000018.4(ACADVL):c.1751+12G>C
|
|
|
NM_000018.4(ACADVL):c.1751+14C>T
|
|
|
NM_000018.4(ACADVL):c.1751+16G>C
|
|
|
NM_000018.4(ACADVL):c.1751+16G>T
|
|
|
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.1751+7A>G
|
|
|
NM_000018.4(ACADVL):c.1751+7_1751+9del
|
|
|
NM_000018.4(ACADVL):c.1751+9G>C
|
|
|
NM_000018.4(ACADVL):c.1751G>A (p.Arg584Lys)
|
|
|
NM_000018.4(ACADVL):c.1751G>C (p.Arg584Thr)
|
rs754123613
|
|
NM_000018.4(ACADVL):c.1752-10T>C
|
|
|
NM_000018.4(ACADVL):c.1752-14C>T
|
|
|
NM_000018.4(ACADVL):c.1752-15C>G
|
|
|
NM_000018.4(ACADVL):c.1752-19A>G
|
|
|
NM_000018.4(ACADVL):c.1752-19A>T
|
|
|
NM_000018.4(ACADVL):c.1752-1G>A
|
rs2142990593
|
|
NM_000018.4(ACADVL):c.1752-20C>A
|
|
|
NM_000018.4(ACADVL):c.1752-2A>G
|
|
|
NM_000018.4(ACADVL):c.1752-2del
|
rs1555529044
|
|
NM_000018.4(ACADVL):c.1752-3_1755del
|
rs2071401309
|
|
NM_000018.4(ACADVL):c.1752-4C>T
|
|
|
NM_000018.4(ACADVL):c.1752-5G>A
|
|
|
NM_000018.4(ACADVL):c.1752-8C>A
|
|
|
NM_000018.4(ACADVL):c.1754C>A (p.Ala585Asp)
|
rs374729641
|
|
NM_000018.4(ACADVL):c.1755C>T (p.Ala585=)
|
rs886038215
|
|
NM_000018.4(ACADVL):c.1757C>G (p.Ser586Ter)
|
|
|
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
|
|
|
NM_000018.4(ACADVL):c.1760G>A (p.Arg587Lys)
|
|
|
NM_000018.4(ACADVL):c.1762T>C (p.Ser588Pro)
|
rs780655964
|
|
NM_000018.4(ACADVL):c.1763C>T (p.Ser588Phe)
|
rs2071402000
|
|
NM_000018.4(ACADVL):c.1764C>T (p.Ser588=)
|
|
|
NM_000018.4(ACADVL):c.1765del (p.Ser588_Leu589insTer)
|
rs1057516226
|
|
NM_000018.4(ACADVL):c.1766T>C (p.Leu589Pro)
|
rs1567569494
|
|
NM_000018.4(ACADVL):c.1769G>A (p.Ser590Asn)
|
|
|
NM_000018.4(ACADVL):c.1769G>T (p.Ser590Ile)
|
|
|
NM_000018.4(ACADVL):c.1770T>C (p.Ser590=)
|
|
|
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)
|
rs1555529048
|
|
NM_000018.4(ACADVL):c.1773G>A (p.Glu591=)
|
|
|
NM_000018.4(ACADVL):c.1776C>T (p.Gly592=)
|
|
|
NM_000018.4(ACADVL):c.1777C>T (p.His593Tyr)
|
|
|
NM_000018.4(ACADVL):c.1782C>G (p.Pro594=)
|
rs1373644425
|
|
NM_000018.4(ACADVL):c.1784C>G (p.Thr595Arg)
|
|
|
NM_000018.4(ACADVL):c.1784C>T (p.Thr595Met)
|
|
|
NM_000018.4(ACADVL):c.1788C>G (p.Ala596=)
|
rs1597540282
|
|
NM_000018.4(ACADVL):c.17T>C (p.Met6Thr)
|
|
|
NM_000018.4(ACADVL):c.1800A>T (p.Lys600Asn)
|
rs2071403522
|
|
NM_000018.4(ACADVL):c.1801A>G (p.Met601Val)
|
|
|
NM_000018.4(ACADVL):c.1801del (p.Met601fs)
|
|
|
NM_000018.4(ACADVL):c.1806C>G (p.Leu602=)
|
|
|
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)
|
rs796051917
|
|
NM_000018.4(ACADVL):c.1807T>C (p.Cys603Arg)
|
rs2071403861
|
|
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)
|
rs2142990894
|
|
NM_000018.4(ACADVL):c.180G>A (p.Leu60=)
|
|
|
NM_000018.4(ACADVL):c.180G>C (p.Leu60=)
|
rs886053372
|
|
NM_000018.4(ACADVL):c.1813A>C (p.Thr605Pro)
|
rs2071404097
|
|
NM_000018.4(ACADVL):c.1814C>G (p.Thr605Ser)
|
|
|
NM_000018.4(ACADVL):c.1815C>G (p.Thr605=)
|
rs2142990923
|
|
NM_000018.4(ACADVL):c.1815C>T (p.Thr605=)
|
rs2142990923
|
|
NM_000018.4(ACADVL):c.1816T>C (p.Trp606Arg)
|
|
|
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter)
|
rs2071404265
|
|
NM_000018.4(ACADVL):c.1820G>T (p.Cys607Phe)
|
|
|
NM_000018.4(ACADVL):c.1821T>C (p.Cys607=)
|
|
|
NM_000018.4(ACADVL):c.1825G>C (p.Glu609Gln)
|
rs398123086
|
|
NM_000018.4(ACADVL):c.1826A>C (p.Glu609Ala)
|
rs908625615
|
|
NM_000018.4(ACADVL):c.1827+1G>A
|
|
|
NM_000018.4(ACADVL):c.1828-14T>C
|
|
|
NM_000018.4(ACADVL):c.1828-17T>G
|
|
|
NM_000018.4(ACADVL):c.1828-18C>G
|
|
|
NM_000018.4(ACADVL):c.1828-4C>A
|
|
|
NM_000018.4(ACADVL):c.1828-7_1828-5dup
|
|
|
NM_000018.4(ACADVL):c.1832C>T (p.Ala611Val)
|
rs2071408325
|
|
NM_000018.4(ACADVL):c.1835C>G (p.Ala612Gly)
|
rs374898424
|
|
NM_000018.4(ACADVL):c.1835C>T (p.Ala612Val)
|
|
|
NM_000018.4(ACADVL):c.1835_1860delinsG (p.Ala612fs)
|
|
|
NM_000018.4(ACADVL):c.1838G>C (p.Arg613Pro)
|
|
|
NM_000018.4(ACADVL):c.1838G>T (p.Arg613Leu)
|
|
|
NM_000018.4(ACADVL):c.1838_1839delinsAA (p.Arg613Gln)
|
|
|
NM_000018.4(ACADVL):c.1838_1841dup (p.Ile614fs)
|
|
|
NM_000018.4(ACADVL):c.1839G>T (p.Arg613=)
|
|
|
NM_000018.4(ACADVL):c.1839del (p.Ile614fs)
|
|
|
NM_000018.4(ACADVL):c.1842C>G (p.Ile614Met)
|
|
|
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)
|
rs1057520507
|
|
NM_000018.4(ACADVL):c.1848G>C (p.Glu616Asp)
|
rs372886650
|
|
NM_000018.4(ACADVL):c.1855G>A (p.Ala619Thr)
|
|
|
NM_000018.4(ACADVL):c.1857C>G (p.Ala619=)
|
rs375730795
|
|
NM_000018.4(ACADVL):c.1857dup (p.Ala620fs)
|
|
|
NM_000018.4(ACADVL):c.185G>C (p.Arg62Thr)
|
rs1213143512
|
|
NM_000018.4(ACADVL):c.1861C>T (p.Leu621=)
|
|
|
NM_000018.4(ACADVL):c.1864C>T (p.Gln622Ter)
|
rs1555529172
|
|
NM_000018.4(ACADVL):c.1865A>G (p.Gln622Arg)
|
|
|
NM_000018.4(ACADVL):c.1870G>C (p.Asp624His)
|
rs1597541044
|
|
NM_000018.4(ACADVL):c.1872C>T (p.Asp624=)
|
|
|
NM_000018.4(ACADVL):c.1873C>A (p.Pro625Thr)
|
|
|
NM_000018.4(ACADVL):c.1873C>T (p.Pro625Ser)
|
rs377044444
|
|
NM_000018.4(ACADVL):c.1875C>A (p.Pro625=)
|
|
|
NM_000018.4(ACADVL):c.1875C>G (p.Pro625=)
|
rs2071410938
|
|
NM_000018.4(ACADVL):c.1876T>C (p.Trp626Arg)
|
|
|
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)
|
rs1555529186
|
|
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=)
|
rs931018661
|
|
NM_000018.4(ACADVL):c.1881G>C (p.Gln627His)
|
rs931018661
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
NM_000018.4(ACADVL):c.1887G>A (p.Glu629=)
|
|
|
NM_000018.4(ACADVL):c.188A>G (p.Lys63Arg)
|
|
|
NM_000018.4(ACADVL):c.1890C>G (p.Leu630=)
|
|
|
NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs)
|
rs2071412066
|
|
NM_000018.4(ACADVL):c.1895G>A (p.Arg632His)
|
|
|
NM_000018.4(ACADVL):c.1896dup (p.Asn633fs)
|
rs2071412513
|
|
NM_000018.4(ACADVL):c.1899C>T (p.Asn633=)
|
rs2142991198
|
|
NM_000018.4(ACADVL):c.189A>G (p.Lys63=)
|
rs727503790
|
|
NM_000018.4(ACADVL):c.18G>A (p.Met6Ile)
|
|
|
NM_000018.4(ACADVL):c.1901T>G (p.Phe634Cys)
|
rs2071412683
|
|
NM_000018.4(ACADVL):c.1908C>T (p.Ser636=)
|
|
|
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)
|
rs1555529204
|
|
NM_000018.4(ACADVL):c.1909_1912dup (p.Ser638fs)
|
rs2071413180
|
|
NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter)
|
rs2142964399
|
|
NM_000018.4(ACADVL):c.1911C>T (p.Ile637=)
|
rs2142991217
|
|
NM_000018.4(ACADVL):c.1914C>A (p.Ser638=)
|
|
|
NM_000018.4(ACADVL):c.1917G>A (p.Lys639=)
|
|
|
NM_000018.4(ACADVL):c.1921T>C (p.Leu641=)
|
|
|
NM_000018.4(ACADVL):c.1922T>C (p.Leu641Ser)
|
rs2071413884
|
|
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.1929G>A (p.Glu643=)
|
rs1208010882
|
|
NM_000018.4(ACADVL):c.192A>G (p.Lys64=)
|
rs2071148553
|
|
NM_000018.4(ACADVL):c.192del (p.Lys64fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)
|
rs771055189
|
|
NM_000018.4(ACADVL):c.1930C>T (p.Arg644Trp)
|
|
|
NM_000018.4(ACADVL):c.1931G>C (p.Arg644Pro)
|
rs774762384
|
|
NM_000018.4(ACADVL):c.1932G>A (p.Arg644=)
|
rs886053375
|
|
NM_000018.4(ACADVL):c.1932G>C (p.Arg644=)
|
rs886053375
|
|
NM_000018.4(ACADVL):c.1937G>T (p.Gly646Val)
|
rs768878569
|
|
NM_000018.4(ACADVL):c.193C>T (p.Pro65Ser)
|
|
|
NM_000018.4(ACADVL):c.1941G>A (p.Val647=)
|
rs2142991254
|
|
NM_000018.4(ACADVL):c.1944C>T (p.Val648=)
|
rs1171256173
|
|
NM_000018.4(ACADVL):c.1953C>A (p.Asn651Lys)
|
rs1417091241
|
|
NM_000018.4(ACADVL):c.1953C>T (p.Asn651=)
|
rs1417091241
|
|
NM_000018.4(ACADVL):c.1955C>T (p.Pro652Leu)
|
|
|
NM_000018.4(ACADVL):c.1956A>G (p.Pro652=)
|
rs2071415834
|
|
NM_000018.4(ACADVL):c.1958T>C (p.Leu653Pro)
|
|
|
NM_000018.4(ACADVL):c.1962C>T (p.Gly654=)
|
|
|
NM_000018.4(ACADVL):c.1964T>C (p.Phe655Ser)
|
rs377659973
|
|
NM_000018.4(ACADVL):c.1966T>A (p.Ter656Arg)
|
|
|
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser)
|
rs2071416769
|
|
NM_000018.4(ACADVL):c.1968A>C (p.Ter656Cys)
|
|
|
NM_000018.4(ACADVL):c.196G>A (p.Ala66Thr)
|
rs142745084
|
|
NM_000018.4(ACADVL):c.197C>G (p.Ala66Gly)
|
rs2071149098
|
|
NM_000018.4(ACADVL):c.198C>T (p.Ala66=)
|
rs2142964530
|
|
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+11C>A
|
|
|
NM_000018.4(ACADVL):c.204+12C>A
|
|
|
NM_000018.4(ACADVL):c.204+12C>G
|
|
|
NM_000018.4(ACADVL):c.204+12C>T
|
|
|
NM_000018.4(ACADVL):c.204+13G>C
|
|
|
NM_000018.4(ACADVL):c.204+14A>G
|
|
|
NM_000018.4(ACADVL):c.204+18C>A
|
|
|
NM_000018.4(ACADVL):c.204+18C>T
|
rs2071151141
|
|
NM_000018.4(ACADVL):c.204+19A>G
|
|
|
NM_000018.4(ACADVL):c.204+19A>T
|
|
|
NM_000018.4(ACADVL):c.204+1G>T
|
|
|
NM_000018.4(ACADVL):c.204+31dup
|
rs1555527700
|
|
NM_000018.4(ACADVL):c.204+5G>A
|
rs958328801
|
|
NM_000018.4(ACADVL):c.204+8G>T
|
|
|
NM_000018.4(ACADVL):c.204+9C>T
|
|
|
NM_000018.4(ACADVL):c.204G>A (p.Ala68=)
|
rs756969179
|
|
NM_000018.4(ACADVL):c.205-10C>T
|
rs2142965181
|
|
NM_000018.4(ACADVL):c.205-12C>T
|
rs2142965144
|
|
NM_000018.4(ACADVL):c.205-1G>C
|
rs2142965332
|
|
NM_000018.4(ACADVL):c.205-20A>C
|
|
|
NM_000018.4(ACADVL):c.205-2A>G
|
rs1597518954
|
|
NM_000018.4(ACADVL):c.205-2A>T
|
rs1597518954
|
|
NM_000018.4(ACADVL):c.205-34A>G
|
rs770101303
|
|
NM_000018.4(ACADVL):c.205-3dup
|
rs2142965291
|
|
NM_000018.4(ACADVL):c.205-5C>G
|
rs768537914
|
|
NM_000018.4(ACADVL):c.205-5C>T
|
|
|
NM_000018.4(ACADVL):c.205-6G>C
|
|
|
NM_000018.4(ACADVL):c.205-6G>T
|
|
|
NM_000018.4(ACADVL):c.205-8_205-7delinsGC
|
rs2142965218
|
|
NM_000018.4(ACADVL):c.20C>A (p.Ala7Asp)
|
rs2142959240
|
|
NM_000018.4(ACADVL):c.210T>G (p.Ser70=)
|
|
|
NM_000018.4(ACADVL):c.210dup (p.Lys71Ter)
|
rs796051912
|
|
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)
|
rs1161495077
|
|
NM_000018.4(ACADVL):c.216C>G (p.Ser72=)
|
|
|
NM_000018.4(ACADVL):c.218T>C (p.Phe73Ser)
|
rs2071156261
|
|
NM_000018.4(ACADVL):c.221C>T (p.Ala74Val)
|
rs1470149388
|
|
NM_000018.4(ACADVL):c.222T>C (p.Ala74=)
|
|
|
NM_000018.4(ACADVL):c.228_231dup (p.Phe78fs)
|
|
|
NM_000018.4(ACADVL):c.230T>C (p.Met77Thr)
|
rs1555527718
|
|
NM_000018.4(ACADVL):c.233T>A (p.Phe78Tyr)
|
|
|
NM_000018.4(ACADVL):c.234C>G (p.Phe78Leu)
|
rs2142965570
|
|
NM_000018.4(ACADVL):c.234C>T (p.Phe78=)
|
rs2142965570
|
|
NM_000018.4(ACADVL):c.236A>G (p.Lys79Arg)
|
rs2071157517
|
|
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.243G>A (p.Gln81=)
|
rs1318553246
|
|
NM_000018.4(ACADVL):c.244C>A (p.Leu82Ile)
|
|
|
NM_000018.4(ACADVL):c.247A>G (p.Thr83Ala)
|
rs1339560413
|
|
NM_000018.4(ACADVL):c.24G>A (p.Ala8=)
|
|
|
NM_000018.4(ACADVL):c.24G>C (p.Ala8=)
|
rs903824712
|
|
NM_000018.4(ACADVL):c.250A>G (p.Thr84Ala)
|
|
|
NM_000018.4(ACADVL):c.251_252del (p.Thr84fs)
|
rs1452339268
|
|
NM_000018.4(ACADVL):c.252A>C (p.Thr84=)
|
|
|
NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter)
|
rs1555527732
|
|
NM_000018.4(ACADVL):c.257A>G (p.Gln86Arg)
|
|
|
NM_000018.4(ACADVL):c.258G>A (p.Gln86=)
|
|
|
NM_000018.4(ACADVL):c.259G>A (p.Val87Met)
|
rs2142965839
|
|
NM_000018.4(ACADVL):c.259_272delinsT (p.Val87fs)
|
|
|
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)
|
rs796051907
|
|
NM_000018.4(ACADVL):c.260T>G (p.Val87Gly)
|
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.26G>C (p.Ser9Thr)
|
|
|
NM_000018.4(ACADVL):c.271C>T (p.Pro91Ser)
|
rs398123087
|
|
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln)
|
rs2071160066
|
|
NM_000018.4(ACADVL):c.272C>T (p.Pro91Leu)
|
|
|
NM_000018.4(ACADVL):c.273G>C (p.Pro91=)
|
rs778993830
|
|
NM_000018.4(ACADVL):c.277+10G>A
|
rs1597519525
|
|
NM_000018.4(ACADVL):c.277+11G>A
|
|
|
NM_000018.4(ACADVL):c.277+14T>A
|
|
|
NM_000018.4(ACADVL):c.277+18C>A
|
rs2142966096
|
|
NM_000018.4(ACADVL):c.277+1G>A
|
|
|
NM_000018.4(ACADVL):c.277+1G>T
|
rs1057517012
|
|
NM_000018.4(ACADVL):c.277+1del
|
rs1555527741
|
|
NM_000018.4(ACADVL):c.277+27del
|
rs775298132
|
|
NM_000018.4(ACADVL):c.277+2T>A
|
|
|
NM_000018.4(ACADVL):c.277+2T>C
|
rs1555527745
|
|
NM_000018.4(ACADVL):c.277+2T>G
|
rs1555527745
|
|
NM_000018.4(ACADVL):c.277+5G>A
|
rs2071160721
|
|
NM_000018.4(ACADVL):c.277+5G>C
|
|
|
NM_000018.4(ACADVL):c.277+9del
|
|
|
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
|
|
|
NM_000018.4(ACADVL):c.277G>C (p.Val93Leu)
|
|
|
NM_000018.4(ACADVL):c.277G>T (p.Val93Leu)
|
rs768632138
|
|
NM_000018.4(ACADVL):c.278-10C>T
|
rs2071166695
|
|
NM_000018.4(ACADVL):c.278-12C>A
|
|
|
NM_000018.4(ACADVL):c.278-12C>G
|
|
|
NM_000018.4(ACADVL):c.278-12del
|
rs2142966623
|
|
NM_000018.4(ACADVL):c.278-14C>T
|
|
|
NM_000018.4(ACADVL):c.278-15C>T
|
|
|
NM_000018.4(ACADVL):c.278-16C>A
|
rs1428008149
|
|
NM_000018.4(ACADVL):c.278-16C>T
|
rs1428008149
|
|
NM_000018.4(ACADVL):c.278-18G>A
|
|
|
NM_000018.4(ACADVL):c.278-18G>T
|
|
|
NM_000018.4(ACADVL):c.278-1G>A
|
rs1298004609
|
|
NM_000018.4(ACADVL):c.278-20C>T
|
|
|
NM_000018.4(ACADVL):c.278-31_278-18del
|
rs2071164779
|
|
NM_000018.4(ACADVL):c.278-4G>A
|
rs2142966745
|
|
NM_000018.4(ACADVL):c.278-9C>T
|
|
|
NM_000018.4(ACADVL):c.27C>T (p.Ser9=)
|
|
|
NM_000018.4(ACADVL):c.285C>A (p.Asn95Lys)
|
|
|
NM_000018.4(ACADVL):c.289G>A (p.Glu97Lys)
|
|
|
NM_000018.4(ACADVL):c.28T>C (p.Leu10=)
|
rs1265116066
|
|
NM_000018.4(ACADVL):c.294G>A (p.Gln98=)
|
rs794727695
|
|
NM_000018.4(ACADVL):c.294G>C (p.Gln98His)
|
rs794727695
|
|
NM_000018.4(ACADVL):c.294G>T (p.Gln98His)
|
rs794727695
|
|
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs)
|
rs2071168842
|
|
NM_000018.4(ACADVL):c.298C>T (p.Gln100Ter)
|
|
|
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)
|
rs786204713
|
|
NM_000018.4(ACADVL):c.299A>G (p.Gln100Arg)
|
rs774141572
|
|
NM_000018.4(ACADVL):c.299_305del (p.Gln100fs)
|
rs1555527806
|
|
NM_000018.4(ACADVL):c.300G>C (p.Gln100His)
|
rs1268173973
|
|
NM_000018.4(ACADVL):c.303del (p.Glu104fs)
|
rs2142967119
|
|
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.309A>G (p.Lys103=)
|
rs2142967187
|
|
NM_000018.4(ACADVL):c.30G>A (p.Leu10=)
|
rs2142959363
|
|
NM_000018.4(ACADVL):c.312G>A (p.Glu104=)
|
|
|
NM_000018.4(ACADVL):c.313_316del (p.Leu105fs)
|
|
|
NM_000018.4(ACADVL):c.315G>T (p.Leu105=)
|
rs754620326
|
|
NM_000018.4(ACADVL):c.316_325del (p.Val106fs)
|
rs1057518506
|
|
NM_000018.4(ACADVL):c.320del (p.Glu107fs)
|
|
|
NM_000018.4(ACADVL):c.324T>C (p.Pro108=)
|
rs764628802
|
|
NM_000018.4(ACADVL):c.324T>G (p.Pro108=)
|
rs764628802
|
|
NM_000018.4(ACADVL):c.325G>A (p.Val109Met)
|
rs754207297
|
|
NM_000018.4(ACADVL):c.327G>A (p.Val109=)
|
|
|
NM_000018.4(ACADVL):c.329C>A (p.Ser110Tyr)
|
rs757608507
|
|
NM_000018.4(ACADVL):c.329C>T (p.Ser110Phe)
|
rs757608507
|
|
NM_000018.4(ACADVL):c.330C>T (p.Ser110=)
|
|
|
NM_000018.4(ACADVL):c.331_339del (p.Arg111_Phe113del)
|
rs1555527820
|
|
NM_000018.4(ACADVL):c.333T>C (p.Arg111=)
|
rs2142967414
|
|
NM_000018.4(ACADVL):c.335del (p.Phe112fs)
|
rs764028320
|
|
NM_000018.4(ACADVL):c.335dup (p.Phe113fs)
|
|
|
NM_000018.4(ACADVL):c.336C>T (p.Phe112=)
|
rs537031882
|
|
NM_000018.4(ACADVL):c.337T>A (p.Phe113Ile)
|
|
|
NM_000018.4(ACADVL):c.338T>C (p.Phe113Ser)
|
rs2071172343
|
|
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu)
|
rs750653177
|
|
NM_000018.4(ACADVL):c.33del (p.Arg12fs)
|
rs1555527464
|
|
NM_000018.4(ACADVL):c.342+10G>A
|
|
|
NM_000018.4(ACADVL):c.342+12C>G
|
|
|
NM_000018.4(ACADVL):c.342+17G>C
|
|
|
NM_000018.4(ACADVL):c.342+17G>T
|
rs368213180
|
|
NM_000018.4(ACADVL):c.342+1G>A
|
|
|
NM_000018.4(ACADVL):c.342+1G>C
|
rs780020193
|
|
NM_000018.4(ACADVL):c.342+4A>C
|
|
|
NM_000018.4(ACADVL):c.343-10C>A
|
rs2142968470
|
|
NM_000018.4(ACADVL):c.343-10C>T
|
rs2142968470
|
|
NM_000018.4(ACADVL):c.343-11G>C
|
|
|
NM_000018.4(ACADVL):c.343-15C>T
|
|
|
NM_000018.4(ACADVL):c.343-20G>C
|
|
|
NM_000018.4(ACADVL):c.343-6C>T
|
|
|
NM_000018.4(ACADVL):c.343-7T>C
|
rs2142968501
|
|
NM_000018.4(ACADVL):c.343-8T>A
|
|
|
NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter)
|
rs370146676
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.346G>A (p.Val116Met)
|
|
|
NM_000018.4(ACADVL):c.348G>A (p.Val116=)
|
|
|
NM_000018.4(ACADVL):c.351C>G (p.Asn117Lys)
|
rs779745734
|
|
NM_000018.4(ACADVL):c.351C>T (p.Asn117=)
|
rs779745734
|
|
NM_000018.4(ACADVL):c.353_358del (p.Asp118_Pro119del)
|
rs2071181405
|
|
NM_000018.4(ACADVL):c.357C>G (p.Pro119=)
|
|
|
NM_000018.4(ACADVL):c.357C>T (p.Pro119=)
|
rs1443253379
|
|
NM_000018.4(ACADVL):c.358_360del (p.Ala120del)
|
rs761449573
|
|
NM_000018.4(ACADVL):c.363G>A (p.Lys121=)
|
rs768219726
|
|
NM_000018.4(ACADVL):c.365dup (p.Asn122fs)
|
|
|
NM_000018.4(ACADVL):c.366T>C (p.Asn122=)
|
|
|
NM_000018.4(ACADVL):c.366T>G (p.Asn122Lys)
|
|
|
NM_000018.4(ACADVL):c.367G>A (p.Asp123Asn)
|
rs1347143307
|
|
NM_000018.4(ACADVL):c.367G>T (p.Asp123Tyr)
|
rs1347143307
|
|
NM_000018.4(ACADVL):c.368A>G (p.Asp123Gly)
|
rs1131691301
|
|
NM_000018.4(ACADVL):c.369C>A (p.Asp123Glu)
|
rs374524648
|
|
NM_000018.4(ACADVL):c.370G>A (p.Ala124Thr)
|
rs560912181
|
|
NM_000018.4(ACADVL):c.370G>T (p.Ala124Ser)
|
rs560912181
|
|
NM_000018.4(ACADVL):c.372T>C (p.Ala124=)
|
rs2142968911
|
|
NM_000018.4(ACADVL):c.373C>G (p.Leu125Val)
|
|
|
NM_000018.4(ACADVL):c.375G>A (p.Leu125=)
|
|
|
NM_000018.4(ACADVL):c.378G>T (p.Glu126Asp)
|
rs2071183181
|
|
NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter)
|
rs63750670
|
|
NM_000018.4(ACADVL):c.384G>A (p.Val128=)
|
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.387G>A (p.Glu129=)
|
|
|
NM_000018.4(ACADVL):c.388_391dup (p.Thr131fs)
|
|
|
NM_000018.4(ACADVL):c.388del (p.Glu130fs)
|
rs2142969054
|
|
NM_000018.4(ACADVL):c.390G>A (p.Glu130=)
|
rs2142969071
|
|
NM_000018.4(ACADVL):c.390G>C (p.Glu130Asp)
|
|
|
NM_000018.4(ACADVL):c.393C>T (p.Thr131=)
|
rs754931255
|
|
NM_000018.4(ACADVL):c.396T>C (p.Thr132=)
|
rs1202646536
|
|
NM_000018.4(ACADVL):c.396T>G (p.Thr132=)
|
rs1202646536
|
|
NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter)
|
rs1555527907
|
|
NM_000018.4(ACADVL):c.398G>C (p.Trp133Ser)
|
|
|
NM_000018.4(ACADVL):c.39G>A (p.Gln13=)
|
rs1481490993
|
|
NM_000018.4(ACADVL):c.401dup (p.Leu136fs)
|
|
|
NM_000018.4(ACADVL):c.402G>A (p.Gln134=)
|
rs2142969249
|
|
NM_000018.4(ACADVL):c.403G>T (p.Gly135Cys)
|
|
|
NM_000018.4(ACADVL):c.404_412del (p.Gly135_Lys137del)
|
rs2071184523
|
|
NM_000018.4(ACADVL):c.406C>G (p.Leu136Val)
|
rs1460246415
|
|
NM_000018.4(ACADVL):c.40C>G (p.Leu14Val)
|
|
|
NM_000018.4(ACADVL):c.410del (p.Lys137fs)
|
|
|
NM_000018.4(ACADVL):c.411G>A (p.Lys137=)
|
rs2142969322
|
|
NM_000018.4(ACADVL):c.414G>A (p.Glu138=)
|
rs767727881
|
|
NM_000018.4(ACADVL):c.417G>A (p.Leu139=)
|
|
|
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.428G>C (p.Gly143Ala)
|
rs1458941582
|
|
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.432G>A (p.Leu144=)
|
rs778968978
|
|
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)
|
rs786204738
|
|
NM_000018.4(ACADVL):c.434A>C (p.Gln145Pro)
|
|
|
NM_000018.4(ACADVL):c.435A>G (p.Gln145=)
|
|
|
NM_000018.4(ACADVL):c.436G>A (p.Val146Met)
|
rs398123089
|
|
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)
|
rs398123089
|
|
NM_000018.4(ACADVL):c.437T>G (p.Val146Gly)
|
rs2142969655
|
|
NM_000018.4(ACADVL):c.438G>A (p.Val146=)
|
|
|
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser)
|
rs1032857886
|
|
NM_000018.4(ACADVL):c.441del (p.Ser148fs)
|
rs2142969688
|
|
NM_000018.4(ACADVL):c.442A>T (p.Ser148Cys)
|
rs892944229
|
|
NM_000018.4(ACADVL):c.443G>C (p.Ser148Thr)
|
|
|
NM_000018.4(ACADVL):c.444T>C (p.Ser148=)
|
rs2142969724
|
|
NM_000018.4(ACADVL):c.447G>A (p.Glu149=)
|
rs2142969733
|
|
NM_000018.4(ACADVL):c.450G>A (p.Leu150=)
|
|
|
NM_000018.4(ACADVL):c.455G>A (p.Gly152Asp)
|
rs794727772
|
|
NM_000018.4(ACADVL):c.455G>T (p.Gly152Val)
|
|
|
NM_000018.4(ACADVL):c.459G>A (p.Val153=)
|
rs2142969815
|
|
NM_000018.4(ACADVL):c.461G>A (p.Gly154Asp)
|
|
|
NM_000018.4(ACADVL):c.461G>C (p.Gly154Ala)
|
rs2071188406
|
|
NM_000018.4(ACADVL):c.465T>C (p.Leu155=)
|
|
|
NM_000018.4(ACADVL):c.465_466dup (p.Cys156fs)
|
rs2142969858
|
|
NM_000018.4(ACADVL):c.466T>C (p.Cys156Arg)
|
rs2071188725
|
|
NM_000018.4(ACADVL):c.471C>T (p.Asn157=)
|
|
|
NM_000018.4(ACADVL):c.475C>G (p.Gln159Glu)
|
rs779650201
|
|
NM_000018.4(ACADVL):c.475del (p.Gln159fs)
|
|
|
NM_000018.4(ACADVL):c.477+12C>T
|
|
|
NM_000018.4(ACADVL):c.477+15T>G
|
|
|
NM_000018.4(ACADVL):c.477+17G>A
|
rs375076326
|
|
NM_000018.4(ACADVL):c.477+17G>T
|
|
|
NM_000018.4(ACADVL):c.477+1G>A
|
|
|
NM_000018.4(ACADVL):c.477+1G>C
|
rs2142969951
|
|
NM_000018.4(ACADVL):c.477+20A>G
|
|
|
NM_000018.4(ACADVL):c.477+2T>G
|
|
|
NM_000018.4(ACADVL):c.477+50A>T
|
rs150033153
|
|
NM_000018.4(ACADVL):c.477+7G>A
|
rs1279805508
|
|
NM_000018.4(ACADVL):c.477+7G>T
|
rs1279805508
|
|
NM_000018.4(ACADVL):c.477G>C (p.Gln159His)
|
rs2071189324
|
|
NM_000018.4(ACADVL):c.478-11T>C
|
|
|
NM_000018.4(ACADVL):c.478-13G>A
|
|
|
NM_000018.4(ACADVL):c.478-13G>C
|
|
|
NM_000018.4(ACADVL):c.478-16C>G
|
|
|
NM_000018.4(ACADVL):c.478-1G>C
|
rs1057517130
|
|
NM_000018.4(ACADVL):c.478-20G>C
|
rs746194631
|
|
NM_000018.4(ACADVL):c.478-4C>T
|
|
|
NM_000018.4(ACADVL):c.478-6C>T
|
rs2142973845
|
|
NM_000018.4(ACADVL):c.478-6del
|
rs2071224181
|
|
NM_000018.4(ACADVL):c.478-7C>T
|
|
|
NM_000018.4(ACADVL):c.478-8C>T
|
|
|
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.482C>T (p.Ala161Val)
|
rs796051908
|
|
NM_000018.4(ACADVL):c.483_484del (p.Arg162fs)
|
|
|
NM_000018.4(ACADVL):c.488dup (p.Leu163fs)
|
rs2142974010
|
|
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.491T>C (p.Val164Ala)
|
rs2071225938
|
|
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly)
|
rs2071225938
|
|
NM_000018.4(ACADVL):c.492G>A (p.Val164=)
|
|
|
NM_000018.4(ACADVL):c.493G>A (p.Glu165Lys)
|
rs2071226145
|
|
NM_000018.4(ACADVL):c.494A>T (p.Glu165Val)
|
|
|
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp)
|
rs370169077
|
|
NM_000018.4(ACADVL):c.498C>A (p.Ile166=)
|
rs370565071
|
|
NM_000018.4(ACADVL):c.498C>T (p.Ile166=)
|
rs370565071
|
|
NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)
|
|
|
NM_000018.4(ACADVL):c.501G>A (p.Val167=)
|
rs2142974194
|
|
NM_000018.4(ACADVL):c.501G>C (p.Val167=)
|
rs2142974194
|
|
NM_000018.4(ACADVL):c.503G>A (p.Gly168Asp)
|
rs2071227236
|
|
NM_000018.4(ACADVL):c.503G>C (p.Gly168Ala)
|
|
|
NM_000018.4(ACADVL):c.504C>T (p.Gly168=)
|
|
|
NM_000018.4(ACADVL):c.506T>C (p.Met169Thr)
|
rs1382262076
|
|
NM_000018.4(ACADVL):c.506T>G (p.Met169Arg)
|
rs1382262076
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
NM_000018.4(ACADVL):c.509A>G (p.His170Arg)
|
|
|
NM_000018.4(ACADVL):c.510T>C (p.His170=)
|
|
|
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.517G>C (p.Gly173Arg)
|
rs2071227774
|
|
NM_000018.4(ACADVL):c.51C>G (p.Leu17=)
|
|
|
NM_000018.4(ACADVL):c.526A>C (p.Ile176Leu)
|
rs1300720825
|
|
NM_000018.4(ACADVL):c.531C>G (p.Thr177=)
|
rs2071228805
|
|
NM_000018.4(ACADVL):c.532del (p.Leu178fs)
|
|
|
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)
|
rs1131691808
|
|
NM_000018.4(ACADVL):c.535G>A (p.Gly179Arg)
|
rs796051909
|
|
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)
|
rs796051909
|
|
NM_000018.4(ACADVL):c.537G>A (p.Gly179=)
|
rs1597525140
|
|
NM_000018.4(ACADVL):c.541dup (p.His181fs)
|
rs1337636757
|
|
NM_000018.4(ACADVL):c.542A>G (p.His181Arg)
|
rs1425862331
|
|
NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter)
|
|
|
NM_000018.4(ACADVL):c.545A>C (p.Gln182Pro)
|
rs2071230096
|
|
NM_000018.4(ACADVL):c.545dup (p.Ser183fs)
|
|
|
NM_000018.4(ACADVL):c.552C>A (p.Ile184=)
|
rs770961747
|
|
NM_000018.4(ACADVL):c.552del (p.Ile184fs)
|
rs1597525249
|
|
NM_000018.4(ACADVL):c.553G>T (p.Gly185Cys)
|
|
|
NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser)
|
rs2071231356
|
|
NM_000018.4(ACADVL):c.563G>A (p.Gly188Asp)
|
rs2071231444
|
|
NM_000018.4(ACADVL):c.564C>G (p.Gly188=)
|
|
|
NM_000018.4(ACADVL):c.565_587del (p.Ile189fs)
|
rs1258134795
|
|
NM_000018.4(ACADVL):c.567C>T (p.Ile189=)
|
rs2142974641
|
|
NM_000018.4(ACADVL):c.56G>T (p.Gly19Val)
|
|
|
NM_000018.4(ACADVL):c.575T>C (p.Phe192Ser)
|
rs1555528189
|
|
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp)
|
rs1220348903
|
|
NM_000018.4(ACADVL):c.579C>T (p.Gly193=)
|
|
|
NM_000018.4(ACADVL):c.57C>G (p.Gly19=)
|
|
|
NM_000018.4(ACADVL):c.582A>C (p.Thr194=)
|
rs113891941
|
|
NM_000018.4(ACADVL):c.582A>G (p.Thr194=)
|
rs113891941
|
|
NM_000018.4(ACADVL):c.586G>C (p.Ala196Pro)
|
|
|
NM_000018.4(ACADVL):c.589del (p.Gln197fs)
|
|
|
NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)
|
|
|
NM_000018.4(ACADVL):c.591G>C (p.Gln197His)
|
rs2071233301
|
|
NM_000018.4(ACADVL):c.592A>G (p.Lys198Glu)
|
rs2071233392
|
|
NM_000018.4(ACADVL):c.595G>T (p.Glu199Ter)
|
|
|
NM_000018.4(ACADVL):c.595_598del (p.Glu199fs)
|
|
|
NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu)
|
|
|
NM_000018.4(ACADVL):c.601T>C (p.Tyr201His)
|
rs2071233789
|
|
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)
|
rs1597525536
|
|
NM_000018.4(ACADVL):c.602_603del (p.Tyr201fs)
|
rs1064796104
|
|
NM_000018.4(ACADVL):c.602_605del (p.Tyr201fs)
|
|
|
NM_000018.4(ACADVL):c.603C>A (p.Tyr201Ter)
|
|
|
NM_000018.4(ACADVL):c.603C>T (p.Tyr201=)
|
|
|
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.608C>T (p.Pro203Leu)
|
|
|
NM_000018.4(ACADVL):c.609C>A (p.Pro203=)
|
rs2142975004
|
|
NM_000018.4(ACADVL):c.609C>T (p.Pro203=)
|
rs2142975004
|
|
NM_000018.4(ACADVL):c.609del (p.Lys204fs)
|
|
|
NM_000018.4(ACADVL):c.612G>A (p.Lys204=)
|
rs149836890
|
|
NM_000018.4(ACADVL):c.612G>C (p.Lys204Asn)
|
|
|
NM_000018.4(ACADVL):c.613C>T (p.Leu205=)
|
|
|
NM_000018.4(ACADVL):c.614T>C (p.Leu205Pro)
|
rs1597525633
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
NM_000018.4(ACADVL):c.62+10del
|
rs1251002707
|
|
NM_000018.4(ACADVL):c.62+11G>A
|
rs754789048
|
|
NM_000018.4(ACADVL):c.62+12_62+21del
|
rs2142959968
|
|
NM_000018.4(ACADVL):c.62+13C>T
|
|
|
NM_000018.4(ACADVL):c.62+16G>A
|
|
|
NM_000018.4(ACADVL):c.62+1G>A
|
rs2071111529
|
|
NM_000018.4(ACADVL):c.62+1G>T
|
|
|
NM_000018.4(ACADVL):c.62+21_62+28del
|
|
|
NM_000018.4(ACADVL):c.62+2T>C
|
|
|
NM_000018.4(ACADVL):c.62+4TG[2]
|
|
|
NM_000018.4(ACADVL):c.62+4TG[3]
|
rs777656865
|
|
NM_000018.4(ACADVL):c.62+6T>C
|
rs1555527495
|
|
NM_000018.4(ACADVL):c.621_622+9del
|
|
|
NM_000018.4(ACADVL):c.622+13T>C
|
|
|
NM_000018.4(ACADVL):c.622+14A>G
|
rs2071235916
|
|
NM_000018.4(ACADVL):c.622+14del
|
|
|
NM_000018.4(ACADVL):c.622+15G>A
|
|
|
NM_000018.4(ACADVL):c.622+19_622+20del
|
|
|
NM_000018.4(ACADVL):c.622+19del
|
|
|
NM_000018.4(ACADVL):c.622+20G>C
|
|
|
NM_000018.4(ACADVL):c.623-11C>T
|
|
|
NM_000018.4(ACADVL):c.623-14T>C
|
rs2142976404
|
|
NM_000018.4(ACADVL):c.623-19_623-3del
|
|
|
NM_000018.4(ACADVL):c.623-1G>A
|
rs1597526782
|
|
NM_000018.4(ACADVL):c.623-20A>G
|
|
|
NM_000018.4(ACADVL):c.623-21A>G
|
|
|
NM_000018.4(ACADVL):c.623-2_623-1del
|
rs1555528265
|
|
NM_000018.4(ACADVL):c.623-35C>A
|
rs1303764728
|
|
NM_000018.4(ACADVL):c.623-4A>G
|
rs977348928
|
|
NM_000018.4(ACADVL):c.623-7C>T
|
|
|
NM_000018.4(ACADVL):c.623G>A (p.Gly208Glu)
|
rs2071251302
|
|
NM_000018.4(ACADVL):c.624G>A (p.Gly208=)
|
rs2142976497
|
|
NM_000018.4(ACADVL):c.625G>C (p.Glu209Gln)
|
rs772055899
|
|
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)
|
rs2142976531
|
|
NM_000018.4(ACADVL):c.63-10C>T
|
rs2142960638
|
|
NM_000018.4(ACADVL):c.63-12del
|
|
|
NM_000018.4(ACADVL):c.63-16C>A
|
|
|
NM_000018.4(ACADVL):c.63-16C>G
|
|
|
NM_000018.4(ACADVL):c.63-16C>T
|
|
|
NM_000018.4(ACADVL):c.63-17A>T
|
rs1597516059
|
|
NM_000018.4(ACADVL):c.63-4A>G
|
rs2142960681
|
|
NM_000018.4(ACADVL):c.63-5C>T
|
|
|
NM_000018.4(ACADVL):c.63-7C>T
|
|
|
NM_000018.4(ACADVL):c.63-8C>T
|
rs2142960652
|
|
NM_000018.4(ACADVL):c.632T>C (p.Val211Ala)
|
|
|
NM_000018.4(ACADVL):c.632_633del (p.Val211fs)
|
rs1489679976
|
|
NM_000018.4(ACADVL):c.633G>A (p.Val211=)
|
|
|
NM_000018.4(ACADVL):c.635C>T (p.Ala212Val)
|
rs2142976575
|
|
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.640_643del (p.Phe214fs)
|
rs2142976616
|
|
NM_000018.4(ACADVL):c.642_643del (p.Phe214fs)
|
rs1186576451
|
|
NM_000018.4(ACADVL):c.643T>C (p.Cys215Arg)
|
|
|
NM_000018.4(ACADVL):c.644G>A (p.Cys215Tyr)
|
|
|
NM_000018.4(ACADVL):c.644G>C (p.Cys215Ser)
|
|
|
NM_000018.4(ACADVL):c.644G>T (p.Cys215Phe)
|
|
|
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.645T>C (p.Cys215=)
|
|
|
NM_000018.4(ACADVL):c.64T>C (p.Ser22Pro)
|
|
|
NM_000018.4(ACADVL):c.650C>T (p.Thr217Ile)
|
rs2071252808
|
|
NM_000018.4(ACADVL):c.651C>A (p.Thr217=)
|
|
|
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.659_672del (p.Ser220fs)
|
|
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp)
|
rs727503788
|
|
NM_000018.4(ACADVL):c.65C>T (p.Ser22Leu)
|
|
|
NM_000018.4(ACADVL):c.660A>C (p.Ser220=)
|
rs2142976731
|
|
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)
|
rs398123091
|
|
NM_000018.4(ACADVL):c.665G>C (p.Gly222Ala)
|
|
|
NM_000018.4(ACADVL):c.666G>A (p.Gly222=)
|
rs755458311
|
|
NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter)
|
rs2071253904
|
|
NM_000018.4(ACADVL):c.669A>G (p.Ser223=)
|
|
|
NM_000018.4(ACADVL):c.675A>G (p.Ala225=)
|
rs1367195566
|
|
NM_000018.4(ACADVL):c.675A>T (p.Ala225=)
|
|
|
NM_000018.4(ACADVL):c.676del (p.Ala226fs)
|
rs2071254166
|
|
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)
|
rs372114185
|
|
NM_000018.4(ACADVL):c.678C>T (p.Ala226=)
|
rs372114185
|
|
NM_000018.4(ACADVL):c.681C>T (p.Ser227=)
|
|
|
NM_000018.4(ACADVL):c.682A>G (p.Ile228Val)
|
rs2071254536
|
|
NM_000018.4(ACADVL):c.682A>T (p.Ile228Phe)
|
rs2071254536
|
|
NM_000018.4(ACADVL):c.685C>G (p.Arg229Gly)
|
rs786204536
|
|
NM_000018.4(ACADVL):c.686_726del (p.Arg229fs)
|
|
|
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)
|
rs2071255080
|
|
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)
|
rs1241935771
|
|
NM_000018.4(ACADVL):c.68G>T (p.Arg23Leu)
|
rs34153370
|
|
NM_000018.4(ACADVL):c.693T>A (p.Ser231=)
|
rs77763289
|
|
NM_000018.4(ACADVL):c.693T>C (p.Ser231=)
|
rs77763289
|
|
NM_000018.4(ACADVL):c.696T>C (p.Ala232=)
|
|
|
NM_000018.4(ACADVL):c.697G>A (p.Val233Met)
|
|
|
NM_000018.4(ACADVL):c.699G>A (p.Val233=)
|
rs1244500033
|
|
NM_000018.4(ACADVL):c.69G>A (p.Arg23=)
|
|
|
NM_000018.4(ACADVL):c.702C>G (p.Pro234=)
|
rs2142976946
|
|
NM_000018.4(ACADVL):c.705C>A (p.Ser235Arg)
|
rs2071256120
|
|
NM_000018.4(ACADVL):c.708C>T (p.Pro236=)
|
rs2142976976
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000018.4(ACADVL):c.710G>A (p.Cys237Tyr)
|
|
|
NM_000018.4(ACADVL):c.711T>C (p.Cys237=)
|
|
|
NM_000018.4(ACADVL):c.711_712del (p.Cys237fs)
|
rs2071256607
|
|
NM_000018.4(ACADVL):c.716_717del (p.Lys239fs)
|
|
|
NM_000018.4(ACADVL):c.720C>T (p.Tyr240=)
|
|
|
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)
|
rs575789958
|
|
NM_000018.4(ACADVL):c.726C>T (p.Thr242=)
|
rs972997485
|
|
NM_000018.4(ACADVL):c.732T>C (p.Asn244=)
|
rs1567564195
|
|
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
|
|
|
NM_000018.4(ACADVL):c.734G>A (p.Gly245Glu)
|
rs762631117
|
|
NM_000018.4(ACADVL):c.736A>G (p.Ser246Gly)
|
rs1555528320
|
|
NM_000018.4(ACADVL):c.739A>C (p.Lys247Gln)
|
rs387906253
|
|
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)
|
rs387906253
|
|
NM_000018.4(ACADVL):c.739A>T (p.Lys247Ter)
|
|
|
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>A (p.Lys247=)
|
|
|
NM_000018.4(ACADVL):c.741G>C (p.Lys247Asn)
|
|
|
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)
|
rs2071258420
|
|
NM_000018.4(ACADVL):c.747G>A (p.Trp249Ter)
|
rs141167669
|
|
NM_000018.4(ACADVL):c.747G>C (p.Trp249Cys)
|
rs141167669
|
|
NM_000018.4(ACADVL):c.748A>G (p.Ile250Val)
|
|
|
NM_000018.4(ACADVL):c.752+10C>T
|
rs200176128
|
|
NM_000018.4(ACADVL):c.752+12C>G
|
|
|
NM_000018.4(ACADVL):c.752+14C>T
|
|
|
NM_000018.4(ACADVL):c.752+18T>A
|
rs928947852
|
|
NM_000018.4(ACADVL):c.752+20T>A
|
|
|
NM_000018.4(ACADVL):c.752+6C>G
|
|
|
NM_000018.4(ACADVL):c.752+6C>T
|
|
|
NM_000018.4(ACADVL):c.752+9C>T
|
|
|
NM_000018.4(ACADVL):c.753-13C>T
|
|
|
NM_000018.4(ACADVL):c.753-15C>T
|
|
|
NM_000018.4(ACADVL):c.753-1G>A
|
|
|
NM_000018.4(ACADVL):c.753-27C>T
|
rs374911841
|
|
NM_000018.4(ACADVL):c.753-2A>G
|
rs398123092
|
|
NM_000018.4(ACADVL):c.753-36C>T
|
|
|
NM_000018.4(ACADVL):c.753-5del
|
rs2071263119
|
|
NM_000018.4(ACADVL):c.753-6C>T
|
|
|
NM_000018.4(ACADVL):c.753-8T>C
|
|
|
NM_000018.4(ACADVL):c.753-9C>A
|
|
|
NM_000018.4(ACADVL):c.753-9C>G
|
rs1262931604
|
|
NM_000018.4(ACADVL):c.753-9C>T
|
rs1262931604
|
|
NM_000018.4(ACADVL):c.755A>G (p.Asn252Ser)
|
rs2071263384
|
|
NM_000018.4(ACADVL):c.757G>A (p.Gly253Arg)
|
rs1555528345
|
|
NM_000018.4(ACADVL):c.758G>A (p.Gly253Glu)
|
rs2071263753
|
|
NM_000018.4(ACADVL):c.759_761del (p.Gly254del)
|
rs1555528346
|
|
NM_000018.4(ACADVL):c.75G>T (p.Thr25=)
|
rs2142960838
|
|
NM_000018.4(ACADVL):c.761G>A (p.Gly254Asp)
|
|
|
NM_000018.4(ACADVL):c.765A>G (p.Leu255=)
|
|
|
NM_000018.4(ACADVL):c.766G>C (p.Ala256Pro)
|
rs2071264273
|
|
NM_000018.4(ACADVL):c.769G>A (p.Asp257Asn)
|
|
|
NM_000018.4(ACADVL):c.770A>G (p.Asp257Gly)
|
|
|
NM_000018.4(ACADVL):c.770A>T (p.Asp257Val)
|
rs2071264623
|
|
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)
|
rs1197133430
|
|
NM_000018.4(ACADVL):c.773T>G (p.Ile258Ser)
|
rs1197133430
|
|
NM_000018.4(ACADVL):c.776_777insA (p.Phe259fs)
|
|
|
NM_000018.4(ACADVL):c.777C>T (p.Phe259=)
|
|
|
NM_000018.4(ACADVL):c.780G>C (p.Thr260=)
|
rs140871321
|
|
NM_000018.4(ACADVL):c.780G>T (p.Thr260=)
|
rs140871321
|
|
NM_000018.4(ACADVL):c.783C>T (p.Val261=)
|
rs1309345559
|
|
NM_000018.4(ACADVL):c.785T>C (p.Phe262Ser)
|
rs1597528061
|
|
NM_000018.4(ACADVL):c.786T>G (p.Phe262Leu)
|
rs777747704
|
|
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.79C>T (p.Leu27Phe)
|
rs1597516267
|
|
NM_000018.4(ACADVL):c.79_100del (p.Leu27fs)
|
rs2071119862
|
|
NM_000018.4(ACADVL):c.800T>G (p.Val267Gly)
|
|
|
NM_000018.4(ACADVL):c.803C>T (p.Thr268Ile)
|
|
|
NM_000018.4(ACADVL):c.808C>T (p.Pro270Ser)
|
rs2071266963
|
|
NM_000018.4(ACADVL):c.809C>G (p.Pro270Arg)
|
|
|
NM_000018.4(ACADVL):c.809del (p.Pro270fs)
|
rs1567564499
|
|
NM_000018.4(ACADVL):c.811G>A (p.Ala271Thr)
|
rs2142977919
|
|
NM_000018.4(ACADVL):c.816A>G (p.Thr272=)
|
|
|
NM_000018.4(ACADVL):c.81C>G (p.Leu27=)
|
|
|
NM_000018.4(ACADVL):c.821C>T (p.Ala274Val)
|
|
|
NM_000018.4(ACADVL):c.826A>G (p.Lys276Glu)
|
|
|
NM_000018.4(ACADVL):c.826_849del (p.Lys276_Val283del)
|
rs1555528367
|
|
NM_000018.4(ACADVL):c.829G>T (p.Glu277Ter)
|
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000018.4(ACADVL):c.833A>T (p.Lys278Met)
|
|
|
NM_000018.4(ACADVL):c.834G>A (p.Lys278=)
|
|
|
NM_000018.4(ACADVL):c.839C>G (p.Thr280Arg)
|
|
|
NM_000018.4(ACADVL):c.839C>T (p.Thr280Ile)
|
rs2142978093
|
|
NM_000018.4(ACADVL):c.841G>C (p.Ala281Pro)
|
rs2142978096
|
|
NM_000018.4(ACADVL):c.842C>A (p.Ala281Asp)
|
|
|
NM_000018.4(ACADVL):c.843T>A (p.Ala281=)
|
|
|
NM_000018.4(ACADVL):c.843T>C (p.Ala281=)
|
|
|
NM_000018.4(ACADVL):c.845T>C (p.Phe282Ser)
|
rs2071268683
|
|
NM_000018.4(ACADVL):c.849G>A (p.Val283=)
|
|
|
NM_000018.4(ACADVL):c.84G>A (p.Leu28=)
|
|
|
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.855G>A (p.Glu285=)
|
rs201509063
|
|
NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp)
|
rs201509063
|
|
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs)
|
rs2071269046
|
|
NM_000018.4(ACADVL):c.857G>A (p.Arg286Lys)
|
|
|
NM_000018.4(ACADVL):c.861C>G (p.Gly287=)
|
rs2142978212
|
|
NM_000018.4(ACADVL):c.861C>T (p.Gly287=)
|
rs2142978212
|
|
NM_000018.4(ACADVL):c.864del (p.Phe288fs)
|
rs1555528386
|
|
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg)
|
rs200788251
|
|
NM_000018.4(ACADVL):c.867G>A (p.Gly289=)
|
rs745557512
|
|
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
|
|
|
NM_000018.4(ACADVL):c.869del (p.Gly290fs)
|
rs886044671
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
NM_000018.4(ACADVL):c.86G>A (p.Gly29Glu)
|
rs1247979958
|
|
NM_000018.4(ACADVL):c.873_874del (p.Thr292fs)
|
|
|
NM_000018.4(ACADVL):c.876C>G (p.Thr292=)
|
|
|
NM_000018.4(ACADVL):c.877C>T (p.His293Tyr)
|
|
|
NM_000018.4(ACADVL):c.877del (p.His293fs)
|
|
|
NM_000018.4(ACADVL):c.878+10T>C
|
|
|
NM_000018.4(ACADVL):c.878+11T>G
|
|
|
NM_000018.4(ACADVL):c.878+18G>A
|
|
|
NM_000018.4(ACADVL):c.878+18G>T
|
|
|
NM_000018.4(ACADVL):c.878+22del
|
|
|
NM_000018.4(ACADVL):c.878+34G>A
|
|
|
NM_000018.4(ACADVL):c.879-10C>T
|
|
|
NM_000018.4(ACADVL):c.879-11C>G
|
rs1395957890
|
|
NM_000018.4(ACADVL):c.879-13T>A
|
|
|
NM_000018.4(ACADVL):c.879-13T>C
|
|
|
NM_000018.4(ACADVL):c.879-14C>G
|
|
|
NM_000018.4(ACADVL):c.879-15A>G
|
|
|
NM_000018.4(ACADVL):c.879-17A>G
|
|
|
NM_000018.4(ACADVL):c.879-18C>T
|
|
|
NM_000018.4(ACADVL):c.879-19C>T
|
rs754490495
|
|
NM_000018.4(ACADVL):c.879-1G>A
|
rs2071286572
|
|
NM_000018.4(ACADVL):c.879-20C>T
|
|
|
NM_000018.4(ACADVL):c.879-2A>G
|
|
|
NM_000018.4(ACADVL):c.879-2_879-1del
|
|
|
NM_000018.4(ACADVL):c.879-7G>C
|
rs2142979711
|
|
NM_000018.4(ACADVL):c.879-88_896del
|
rs2142979402
|
|
NM_000018.4(ACADVL):c.879-8T>A
|
rs2071286355
|
|
NM_000018.4(ACADVL):c.882G>C (p.Gly294=)
|
|
|
NM_000018.4(ACADVL):c.883C>G (p.Pro295Ala)
|
rs1327386820
|
|
NM_000018.4(ACADVL):c.883C>T (p.Pro295Ser)
|
|
|
NM_000018.4(ACADVL):c.885C>A (p.Pro295=)
|
rs1567565243
|
|
NM_000018.4(ACADVL):c.886C>T (p.Pro296Ser)
|
|
|
NM_000018.4(ACADVL):c.887C>T (p.Pro296Leu)
|
|
|
NM_000018.4(ACADVL):c.889G>A (p.Glu297Lys)
|
rs2071287310
|
|
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)
|
rs796051914
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
NM_000018.4(ACADVL):c.891G>A (p.Glu297=)
|
|
|
NM_000018.4(ACADVL):c.891G>C (p.Glu297Asp)
|
rs2071287588
|
|
NM_000018.4(ACADVL):c.891del (p.Lys298fs)
|
rs1057517180
|
|
NM_000018.4(ACADVL):c.895A>G (p.Lys299Glu)
|
rs2142979869
|
|
NM_000018.4(ACADVL):c.896A>G (p.Lys299Arg)
|
rs771247610
|
|
NM_000018.4(ACADVL):c.897G>C (p.Lys299Asn)
|
|
|
NM_000018.4(ACADVL):c.898A>G (p.Met300Val)
|
rs1026112888
|
|
NM_000018.4(ACADVL):c.8C>T (p.Ala3Val)
|
|
|
NM_000018.4(ACADVL):c.900G>A (p.Met300Ile)
|
rs2071288305
|
|
NM_000018.4(ACADVL):c.901G>A (p.Gly301Ser)
|
rs199738655
|
|
NM_000018.4(ACADVL):c.902G>A (p.Gly301Asp)
|
|
|
NM_000018.4(ACADVL):c.904A>T (p.Ile302Phe)
|
rs2071288448
|
|
NM_000018.4(ACADVL):c.904del (p.Ile302fs)
|
|
|
NM_000018.4(ACADVL):c.906C>T (p.Ile302=)
|
|
|
NM_000018.4(ACADVL):c.907_908del (p.Lys303fs)
|
|
|
NM_000018.4(ACADVL):c.909G>A (p.Lys303=)
|
rs2142979945
|
|
NM_000018.4(ACADVL):c.90del (p.Gln30fs)
|
|
|
NM_000018.4(ACADVL):c.910G>A (p.Ala304Thr)
|
|
|
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val)
|
rs1473375424
|
|
NM_000018.4(ACADVL):c.916_917del (p.Asn306fs)
|
|
|
NM_000018.4(ACADVL):c.918C>A (p.Asn306Lys)
|
rs2071288883
|
|
NM_000018.4(ACADVL):c.920C>G (p.Thr307Arg)
|
rs866743364
|
|
NM_000018.4(ACADVL):c.921A>C (p.Thr307=)
|
|
|
NM_000018.4(ACADVL):c.922G>A (p.Ala308Thr)
|
|
|
NM_000018.4(ACADVL):c.924A>G (p.Ala308=)
|
|
|
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)
|
rs2071289046
|
|
NM_000018.4(ACADVL):c.927G>A (p.Glu309=)
|
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
NM_000018.4(ACADVL):c.937G>C (p.Asp313His)
|
|
|
NM_000018.4(ACADVL):c.938_940del (p.Asp313del)
|
rs2142980046
|
|
NM_000018.4(ACADVL):c.942A>C (p.Gly314=)
|
rs2142980069
|
|
NM_000018.4(ACADVL):c.944T>G (p.Val315Gly)
|
rs1555528469
|
|
NM_000018.4(ACADVL):c.946C>T (p.Arg316Trp)
|
|
|
NM_000018.4(ACADVL):c.948G>A (p.Arg316=)
|
|
|
NM_000018.4(ACADVL):c.949G>A (p.Val317Met)
|
rs1567565417
|
|
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.956C>T (p.Ser319Leu)
|
rs149467828
|
|
NM_000018.4(ACADVL):c.959dup (p.Asn321fs)
|
|
|
NM_000018.4(ACADVL):c.963C>A (p.Asn321Lys)
|
rs568118142
|
|
NM_000018.4(ACADVL):c.965T>C (p.Val322Ala)
|
|
|
NM_000018.4(ACADVL):c.96G>A (p.Arg32=)
|
rs1243371051
|
|
NM_000018.4(ACADVL):c.972T>C (p.Gly324=)
|
rs1555528483
|
|
NM_000018.4(ACADVL):c.975G>C (p.Glu325Asp)
|
rs1271862153
|
|
NM_000018.4(ACADVL):c.976G>T (p.Val326Phe)
|
|
|
NM_000018.4(ACADVL):c.977T>A (p.Val326Asp)
|
rs1205407134
|
|
NM_000018.4(ACADVL):c.977T>C (p.Val326Ala)
|
rs1205407134
|
|
NM_000018.4(ACADVL):c.981G>C (p.Gly327=)
|
rs527421619
|
|
NM_000018.4(ACADVL):c.988T>C (p.Phe330Leu)
|
rs947624074
|
|
NM_000018.4(ACADVL):c.990C>G (p.Phe330Leu)
|
rs2071292084
|
|
NM_000018.4(ACADVL):c.996del (p.Ala333fs)
|
rs1057516843
|
|
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)
|
rs1057516843
|
|
NM_000018.4(ACADVL):c.997G>A (p.Ala333Thr)
|
rs2071292782
|
|
NM_000018.4(ACADVL):c.997_998insT (p.Ala333fs)
|
|
|
NM_000018.4(ACADVL):c.99C>T (p.Pro33=)
|
|
|
NM_000018.4(ACADVL):c.9G>A (p.Ala3=)
|
|
|
NM_000018.4(ACADVL):c.9G>C (p.Ala3=)
|
|
|
NM_000018.4(ACADVL):c.[1097G>A;869del]
|
|
|
NM_000018.4(ACADVL):c.[1310T>C;869del]
|
|
|
NM_001321075.3(DLG4):c.-27C>T
|
rs1555526472
|
|
NM_001365.5(DLG4):c.159+435_159+439del
|
rs1178274476
|
|
NM_001365.5(DLG4):c.159+439_159+444dup
|
rs1258394272
|
|
NM_001365.5(DLG4):c.159+455G>T
|
|
|
NM_001365.5(DLG4):c.159+465C>T
|
rs1555526671
|
|
NM_001365.5(DLG4):c.159+472G>A
|
rs1555526667
|
|
NM_001365.5(DLG4):c.159+487G>A
|
rs1237915800
|
|
NM_001365.5(DLG4):c.159+489GCTTCT[3]
|
rs1555526655
|
|
NM_001608.4(ACADL):c.*621G>A
|
rs886055550
|
|
NM_001608.4(ACADL):c.24dup (p.Ser9fs)
|
rs764706552
|
|
NM_001608.4(ACADL):c.928_933delinsCATGAATGTTATGTTT (p.Thr310fs)
|
rs1559636157
|
|