NM_002857.4(PEX19):c.261C>T (p.Phe87=)
|
rs146644725
|
0.00206
|
NM_002857.4(PEX19):c.*864C>T
|
rs144938105
|
0.00132
|
NM_002857.4(PEX19):c.181-5C>T
|
rs199818690
|
0.00109
|
NM_002857.4(PEX19):c.459G>A (p.Leu153=)
|
rs78340311
|
0.00098
|
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)
|
rs145845197
|
0.00093
|
NM_002857.4(PEX19):c.*1069G>A
|
rs542626903
|
0.00084
|
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)
|
rs142780305
|
0.00067
|
NM_002857.4(PEX19):c.-4C>T
|
rs201541204
|
0.00053
|
NM_002857.4(PEX19):c.*1335G>T
|
rs748536788
|
0.00044
|
NM_002857.4(PEX19):c.254C>T (p.Ala85Val)
|
rs11550119
|
0.00041
|
NM_002857.4(PEX19):c.402T>C (p.Ser134=)
|
rs139828188
|
0.00036
|
NM_002857.4(PEX19):c.*2717A>G
|
rs574056299
|
0.00032
|
NM_002857.4(PEX19):c.878G>C (p.Gly293Ala)
|
rs139875266
|
0.00029
|
NM_002857.4(PEX19):c.*2224G>T
|
rs573966291
|
0.00021
|
NM_002857.4(PEX19):c.*2536A>G
|
rs141829599
|
0.00021
|
NM_002857.4(PEX19):c.*1980T>C
|
rs372976790
|
0.00018
|
NM_002857.4(PEX19):c.*2413C>T
|
rs183164292
|
0.00018
|
NM_002857.4(PEX19):c.845C>T (p.Ala282Val)
|
rs373092548
|
0.00016
|
NM_002857.4(PEX19):c.*77del
|
rs771535781
|
0.00015
|
NM_002857.4(PEX19):c.*854G>A
|
rs747191827
|
0.00014
|
NM_002857.4(PEX19):c.*1013G>A
|
rs747057473
|
0.00011
|
NM_002857.4(PEX19):c.262G>A (p.Glu88Lys)
|
rs372422266
|
0.00010
|
NM_002857.4(PEX19):c.857C>G (p.Ser286Trp)
|
rs149976198
|
0.00010
|
NM_002857.4(PEX19):c.*1145C>T
|
rs75916849
|
0.00008
|
NM_002857.4(PEX19):c.*1163T>C
|
rs575199724
|
0.00008
|
NM_002857.4(PEX19):c.*1745T>C
|
rs186821837
|
0.00007
|
NM_002857.4(PEX19):c.*1852C>G
|
rs370387085
|
0.00007
|
NM_002857.4(PEX19):c.*1761C>A
|
rs761868324
|
0.00006
|
NM_002857.4(PEX19):c.*2068T>C
|
rs536872409
|
0.00006
|
NM_002857.4(PEX19):c.*427A>G
|
rs886045447
|
0.00006
|
NM_002857.4(PEX19):c.347-7C>T
|
rs753523567
|
0.00006
|
NM_002857.4(PEX19):c.488A>G (p.Asp163Gly)
|
rs138174625
|
0.00006
|
NM_002857.4(PEX19):c.*1103C>T
|
rs561417695
|
0.00005
|
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro)
|
rs747627762
|
0.00005
|
NM_002857.4(PEX19):c.*662C>T
|
rs773981843
|
0.00004
|
NM_002857.4(PEX19):c.193G>A (p.Ala65Thr)
|
rs376013124
|
0.00004
|
NM_002857.4(PEX19):c.215A>G (p.Gln72Arg)
|
rs543271441
|
0.00004
|
NM_002857.4(PEX19):c.619C>T (p.Arg207Trp)
|
rs367813991
|
0.00004
|
NM_002857.4(PEX19):c.*1592G>A
|
rs779471097
|
0.00003
|
NM_002857.4(PEX19):c.*2555T>G
|
rs148123121
|
0.00003
|
NM_002857.4(PEX19):c.*896A>G
|
rs886045445
|
0.00003
|
NM_002857.4(PEX19):c.490G>A (p.Glu164Lys)
|
rs370126224
|
0.00003
|
NM_002857.4(PEX19):c.670G>A (p.Val224Ile)
|
rs372197333
|
0.00003
|
NM_002857.4(PEX19):c.763dup (p.Met255fs)
|
rs267608186
|
0.00003
|
NM_002857.4(PEX19):c.856T>G (p.Ser286Ala)
|
rs1272607089
|
0.00003
|
NM_002857.4(PEX19):c.863C>T (p.Pro288Leu)
|
rs746472158
|
0.00003
|
NM_002857.3(PEX19):c.-17A>C
|
rs748844578
|
0.00002
|
NM_002857.4(PEX19):c.*2383C>G
|
rs369641116
|
0.00002
|
NM_002857.4(PEX19):c.143C>T (p.Ser48Leu)
|
rs375153087
|
0.00002
|
NM_002857.4(PEX19):c.17A>G (p.Glu6Gly)
|
rs181602818
|
0.00002
|
NM_002857.4(PEX19):c.272T>C (p.Met91Thr)
|
rs747047470
|
0.00002
|
NM_002857.4(PEX19):c.435C>A (p.Asn145Lys)
|
rs771657561
|
0.00002
|
NM_002857.4(PEX19):c.553A>G (p.Lys185Glu)
|
rs765741144
|
0.00002
|
NM_002857.4(PEX19):c.696T>A (p.Phe232Leu)
|
rs753324166
|
0.00002
|
NM_002857.4(PEX19):c.700G>T (p.Ala234Ser)
|
rs760726802
|
0.00002
|
NM_002857.4(PEX19):c.*1330G>A
|
rs886045442
|
0.00001
|
NM_002857.4(PEX19):c.*138C>T
|
rs770138698
|
0.00001
|
NM_002857.4(PEX19):c.*1450T>A
|
rs886045441
|
0.00001
|
NM_002857.4(PEX19):c.*2155C>T
|
rs886045439
|
0.00001
|
NM_002857.4(PEX19):c.*469C>T
|
rs886045446
|
0.00001
|
NM_002857.4(PEX19):c.*716C>A
|
rs1201331563
|
0.00001
|
NM_002857.4(PEX19):c.*741C>T
|
rs1288025465
|
0.00001
|
NM_002857.4(PEX19):c.*971G>A
|
rs543861713
|
0.00001
|
NM_002857.4(PEX19):c.10G>T (p.Ala4Ser)
|
rs1436027867
|
0.00001
|
NM_002857.4(PEX19):c.110C>T (p.Ala37Val)
|
rs575112594
|
0.00001
|
NM_002857.4(PEX19):c.148C>A (p.Pro50Thr)
|
rs1280706455
|
0.00001
|
NM_002857.4(PEX19):c.181G>A (p.Asp61Asn)
|
rs1364910260
|
0.00001
|
NM_002857.4(PEX19):c.200A>C (p.Gln67Pro)
|
rs755726384
|
0.00001
|
NM_002857.4(PEX19):c.31G>C (p.Gly11Arg)
|
rs772905234
|
0.00001
|
NM_002857.4(PEX19):c.365A>G (p.Gln122Arg)
|
rs1405573106
|
0.00001
|
NM_002857.4(PEX19):c.367C>G (p.Gln123Glu)
|
rs1334997035
|
0.00001
|
NM_002857.4(PEX19):c.37G>C (p.Glu13Gln)
|
rs868021380
|
0.00001
|
NM_002857.4(PEX19):c.424G>C (p.Asp142His)
|
rs778927500
|
0.00001
|
NM_002857.4(PEX19):c.432+2T>C
|
rs757078881
|
0.00001
|
NM_002857.4(PEX19):c.442A>G (p.Met148Val)
|
rs905834830
|
0.00001
|
NM_002857.4(PEX19):c.484A>C (p.Met162Leu)
|
rs1205563557
|
0.00001
|
NM_002857.4(PEX19):c.517C>T (p.Pro173Ser)
|
rs1298851036
|
0.00001
|
NM_002857.4(PEX19):c.526C>G (p.Gln176Glu)
|
rs1480182464
|
0.00001
|
NM_002857.4(PEX19):c.536T>G (p.Met179Arg)
|
rs1234326495
|
0.00001
|
NM_002857.4(PEX19):c.57G>C (p.Glu19Asp)
|
rs1170972153
|
0.00001
|
NM_002857.4(PEX19):c.594G>C (p.Lys198Asn)
|
rs773909342
|
0.00001
|
NM_002857.4(PEX19):c.61C>G (p.Leu21Val)
|
rs374112351
|
0.00001
|
NM_002857.4(PEX19):c.629T>C (p.Leu210Pro)
|
rs775425209
|
0.00001
|
NM_002857.4(PEX19):c.667A>G (p.Ser223Gly)
|
rs778154365
|
0.00001
|
NM_002857.4(PEX19):c.76C>A (p.Leu26Ile)
|
rs146340199
|
0.00001
|
NM_002857.4(PEX19):c.772C>G (p.Leu258Val)
|
rs752093054
|
0.00001
|
NM_002857.4(PEX19):c.858G>A (p.Ser286=)
|
rs754510943
|
0.00001
|
NM_002857.4(PEX19):c.88G>A (p.Asp30Asn)
|
rs764990251
|
0.00001
|
NM_002857.4(PEX19):c.895_896del (p.Met299fs)
|
rs1175608825
|
0.00001
|
NM_002857.4(PEX19):c.*1462C>G
|
rs1233628177
|
|
NM_002857.4(PEX19):c.*172G>C
|
rs886045449
|
|
NM_002857.4(PEX19):c.*1790A>G
|
rs886045440
|
|
NM_002857.4(PEX19):c.*2417CT[2]
|
rs143491060
|
|
NM_002857.4(PEX19):c.*361G>A
|
rs886045448
|
|
NM_002857.4(PEX19):c.*582G>A
|
rs1657648265
|
|
NM_002857.4(PEX19):c.*934A>G
|
rs886045444
|
|
NM_002857.4(PEX19):c.*998G>A
|
rs886045443
|
|
NM_002857.4(PEX19):c.115C>G (p.Pro39Ala)
|
rs144256391
|
|
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser)
|
rs144256391
|
|
NM_002857.4(PEX19):c.118T>G (p.Ser40Ala)
|
|
|
NM_002857.4(PEX19):c.11C>A (p.Ala4Asp)
|
rs766641297
|
|
NM_002857.4(PEX19):c.122_123insAGA (p.Thr41_Thr42insAsp)
|
rs2101805810
|
|
NM_002857.4(PEX19):c.128C>T (p.Thr43Met)
|
|
|
NM_002857.4(PEX19):c.13G>A (p.Glu5Lys)
|
|
|
NM_002857.4(PEX19):c.149C>A (p.Pro50His)
|
rs11550117
|
|
NM_002857.4(PEX19):c.149C>T (p.Pro50Leu)
|
rs11550117
|
|
NM_002857.4(PEX19):c.152A>G (p.Gln51Arg)
|
rs2101805717
|
|
NM_002857.4(PEX19):c.152AGA[1] (p.Lys52del)
|
rs2101805702
|
|
NM_002857.4(PEX19):c.166G>A (p.Gly56Arg)
|
rs1657873152
|
|
NM_002857.4(PEX19):c.172A>G (p.Thr58Ala)
|
|
|
NM_002857.4(PEX19):c.181-4G>T
|
rs747572423
|
|
NM_002857.4(PEX19):c.187C>G (p.Leu63Val)
|
rs1166824486
|
|
NM_002857.4(PEX19):c.18A>T (p.Glu6Asp)
|
|
|
NM_002857.4(PEX19):c.190T>A (p.Phe64Ile)
|
rs1657846391
|
|
NM_002857.4(PEX19):c.199C>G (p.Gln67Glu)
|
|
|
NM_002857.4(PEX19):c.19G>A (p.Gly7Ser)
|
rs963164666
|
|
NM_002857.4(PEX19):c.211T>C (p.Phe71Leu)
|
|
|
NM_002857.4(PEX19):c.212T>A (p.Phe71Tyr)
|
|
|
NM_002857.4(PEX19):c.212T>G (p.Phe71Cys)
|
|
|
NM_002857.4(PEX19):c.225C>G (p.Phe75Leu)
|
|
|
NM_002857.4(PEX19):c.239C>T (p.Ala80Val)
|
|
|
NM_002857.4(PEX19):c.23G>A (p.Cys8Tyr)
|
rs369984634
|
|
NM_002857.4(PEX19):c.23G>T (p.Cys8Phe)
|
rs369984634
|
|
NM_002857.4(PEX19):c.242C>T (p.Ser81Phe)
|
rs766263544
|
|
NM_002857.4(PEX19):c.248C>G (p.Ala83Gly)
|
rs1657842985
|
|
NM_002857.4(PEX19):c.254C>A (p.Ala85Glu)
|
rs11550119
|
|
NM_002857.4(PEX19):c.25A>G (p.Ser9Gly)
|
rs775660692
|
|
NM_002857.4(PEX19):c.262G>C (p.Glu88Gln)
|
rs372422266
|
|
NM_002857.4(PEX19):c.284C>A (p.Ala95Asp)
|
|
|
NM_002857.4(PEX19):c.302T>G (p.Leu101Arg)
|
|
|
NM_002857.4(PEX19):c.305T>C (p.Val102Ala)
|
|
|
NM_002857.4(PEX19):c.338G>T (p.Gly113Val)
|
rs2101804477
|
|
NM_002857.4(PEX19):c.347G>A (p.Gly116Asp)
|
rs1657814596
|
|
NM_002857.4(PEX19):c.351T>G (p.Ser117Arg)
|
rs376684423
|
|
NM_002857.4(PEX19):c.362C>T (p.Ser121Phe)
|
rs1557854775
|
|
NM_002857.4(PEX19):c.383G>A (p.Cys128Tyr)
|
rs2101803261
|
|
NM_002857.4(PEX19):c.384C>G (p.Cys128Trp)
|
|
|
NM_002857.4(PEX19):c.395C>G (p.Thr132Arg)
|
|
|
NM_002857.4(PEX19):c.395C>T (p.Thr132Ile)
|
rs770134866
|
|
NM_002857.4(PEX19):c.397C>G (p.Leu133Val)
|
|
|
NM_002857.4(PEX19):c.413A>G (p.Lys138Arg)
|
rs745314708
|
|
NM_002857.4(PEX19):c.419C>T (p.Ala140Val)
|
|
|
NM_002857.4(PEX19):c.41C>T (p.Ala14Val)
|
rs1657957953
|
|
NM_002857.4(PEX19):c.432+3G>A
|
|
|
NM_002857.4(PEX19):c.441C>T (p.Ser147=)
|
rs745392627
|
|
NM_002857.4(PEX19):c.446C>T (p.Ser149Leu)
|
|
|
NM_002857.4(PEX19):c.45C>G (p.Asp15Glu)
|
rs2101810529
|
|
NM_002857.4(PEX19):c.46A>T (p.Arg16Trp)
|
|
|
NM_002857.4(PEX19):c.474G>C (p.Glu158Asp)
|
|
|
NM_002857.4(PEX19):c.475G>A (p.Gly159Arg)
|
|
|
NM_002857.4(PEX19):c.481G>C (p.Gly161Arg)
|
rs2101802695
|
|
NM_002857.4(PEX19):c.484A>G (p.Met162Val)
|
|
|
NM_002857.4(PEX19):c.485T>C (p.Met162Thr)
|
|
|
NM_002857.4(PEX19):c.499G>A (p.Gly167Arg)
|
|
|
NM_002857.4(PEX19):c.506G>A (p.Gly169Glu)
|
rs748793476
|
|
NM_002857.4(PEX19):c.51A>C (p.Glu17Asp)
|
rs1657957259
|
|
NM_002857.4(PEX19):c.523A>G (p.Met175Val)
|
rs886044114
|
|
NM_002857.4(PEX19):c.524T>C (p.Met175Thr)
|
|
|
NM_002857.4(PEX19):c.527A>C (p.Gln176Pro)
|
rs1231019046
|
|
NM_002857.4(PEX19):c.530G>A (p.Ser177Asn)
|
|
|
NM_002857.4(PEX19):c.532A>G (p.Ile178Val)
|
rs2101802538
|
|
NM_002857.4(PEX19):c.547C>T (p.Leu183Phe)
|
rs1351664822
|
|
NM_002857.4(PEX19):c.563T>C (p.Leu188Pro)
|
|
|
NM_002857.4(PEX19):c.574C>G (p.Leu192Val)
|
|
|
NM_002857.4(PEX19):c.575T>C (p.Leu192Pro)
|
|
|
NM_002857.4(PEX19):c.5C>T (p.Ala2Val)
|
rs1307265959
|
|
NM_002857.4(PEX19):c.615T>A (p.Ser205Arg)
|
rs2101800172
|
|
NM_002857.4(PEX19):c.617A>G (p.His206Arg)
|
rs761372588
|
|
NM_002857.4(PEX19):c.617A>T (p.His206Leu)
|
rs761372588
|
|
NM_002857.4(PEX19):c.619C>G (p.Arg207Gly)
|
rs367813991
|
|
NM_002857.4(PEX19):c.630A>C (p.Leu210=)
|
rs202174805
|
|
NM_002857.4(PEX19):c.634C>A (p.Pro212Thr)
|
|
|
NM_002857.4(PEX19):c.644T>C (p.Phe215Ser)
|
rs2101800093
|
|
NM_002857.4(PEX19):c.661C>G (p.Gln221Glu)
|
|
|
NM_002857.4(PEX19):c.679A>G (p.Lys227Glu)
|
|
|
NM_002857.4(PEX19):c.68A>C (p.Glu23Ala)
|
|
|
NM_002857.4(PEX19):c.692A>G (p.Gln231Arg)
|
|
|
NM_002857.4(PEX19):c.694T>G (p.Phe232Val)
|
rs2101799984
|
|
NM_002857.4(PEX19):c.699G>T (p.Glu233Asp)
|
|
|
NM_002857.4(PEX19):c.69A>T (p.Glu23Asp)
|
|
|
NM_002857.4(PEX19):c.70+5G>C
|
rs1158588649
|
|
NM_002857.4(PEX19):c.703_704delinsAT (p.Glu235Met)
|
rs1557853548
|
|
NM_002857.4(PEX19):c.706A>G (p.Thr236Ala)
|
rs1040267504
|
|
NM_002857.4(PEX19):c.713C>A (p.Thr238Lys)
|
|
|
NM_002857.4(PEX19):c.740G>A (p.Arg247His)
|
|
|
NM_002857.4(PEX19):c.744T>A (p.Phe248Leu)
|
|
|
NM_002857.4(PEX19):c.744T>G (p.Phe248Leu)
|
rs1473774134
|
|
NM_002857.4(PEX19):c.751G>A (p.Val251Met)
|
|
|
NM_002857.4(PEX19):c.754C>A (p.Leu252Met)
|
|
|
NM_002857.4(PEX19):c.759T>A (p.Asp253Glu)
|
|
|
NM_002857.4(PEX19):c.771+5G>A
|
rs2101799795
|
|
NM_002857.4(PEX19):c.779A>G (p.Asp260Gly)
|
|
|
NM_002857.4(PEX19):c.784G>A (p.Gly262Ser)
|
|
|
NM_002857.4(PEX19):c.788A>G (p.His263Arg)
|
rs762620480
|
|
NM_002857.4(PEX19):c.808G>A (p.Gly270Arg)
|
rs1657696746
|
|
NM_002857.4(PEX19):c.817-9C>A
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rs2101799148
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NM_002857.4(PEX19):c.817C>A (p.Pro273Thr)
|
rs760797797
|
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NM_002857.4(PEX19):c.842A>G (p.Asp281Gly)
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rs2101799102
|
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NM_002857.4(PEX19):c.854T>C (p.Leu285Pro)
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NM_002857.4(PEX19):c.857C>T (p.Ser286Leu)
|
rs149976198
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NM_002857.4(PEX19):c.859G>T (p.Gly287Cys)
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NM_002857.4(PEX19):c.869G>C (p.Gly290Ala)
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NM_002857.4(PEX19):c.878G>A (p.Gly293Asp)
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NM_002857.4(PEX19):c.883C>A (p.Gln295Lys)
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NM_002857.4(PEX19):c.886T>C (p.Cys296Arg)
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rs1557853173
|
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NM_002857.4(PEX19):c.887G>A (p.Cys296Tyr)
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rs1326449698
|
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NM_002857.4(PEX19):c.896T>C (p.Met299Thr)
|
rs2101798984
|
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NM_002857.4(PEX19):c.94G>C (p.Ala32Pro)
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NM_002857.4(PEX19):c.94G>T (p.Ala32Ser)
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NM_002857.4(PEX19):c.98A>G (p.Lys33Arg)
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