NM_000287.4(PEX6):c.399G>T (p.Val133=)
|
rs9462858
|
0.40569
|
NM_000288.4(PEX7):c.340-103A>G
|
rs2295592
|
0.10001
|
NM_004813.4(PEX16):c.*587A>G
|
rs72902478
|
0.06684
|
NM_002857.3(PEX19):c.-41C>T
|
rs113442137
|
0.04456
|
NM_004813.2(PEX16):c.-279G>A
|
rs2280330
|
0.02963
|
NM_000466.3(PEX1):c.3439-14_3439-13del
|
rs150005994
|
0.02536
|
NM_000288.4(PEX7):c.-31G>A
|
rs115866467
|
0.02411
|
NM_000287.4(PEX6):c.*212C>T
|
rs1051218
|
0.02308
|
NM_001351132.2(PEX5):c.*794_*795dup
|
rs112785895
|
0.02091
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_001127649.3(PEX26):c.-363G>C
|
rs138787474
|
0.01598
|
NM_002857.4(PEX19):c.*2057T>G
|
rs56089807
|
0.01433
|
NM_002857.4(PEX19):c.879T>C (p.Gly293=)
|
rs74125561
|
0.01375
|
NM_001351132.2(PEX5):c.-17+188T>C
|
rs186539500
|
0.01324
|
NM_000466.3(PEX1):c.1671-7T>C
|
rs74519968
|
0.01312
|
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
|
rs12484657
|
0.01096
|
NM_001351132.2(PEX5):c.1718+13A>G
|
rs116873137
|
0.01093
|
NM_004565.3(PEX14):c.768G>A (p.Val256=)
|
rs36083022
|
0.01070
|
NM_004565.3(PEX14):c.213C>G (p.Gly71=)
|
rs41274482
|
0.00899
|
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)
|
rs112822975
|
0.00803
|
NM_004813.4(PEX16):c.*65T>C
|
rs16938413
|
0.00789
|
NM_001127649.3(PEX26):c.*2162G>A
|
rs45489191
|
0.00688
|
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)
|
rs150895887
|
0.00683
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
NM_002617.4(PEX10):c.318G>A (p.Leu106=)
|
rs146452560
|
0.00649
|
NM_000318.3(PEX2):c.*319A>G
|
rs78045204
|
0.00610
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_000466.3(PEX1):c.3720C>T (p.His1240=)
|
rs34825053
|
0.00582
|
NM_001127649.3(PEX26):c.*2311G>T
|
rs74714634
|
0.00524
|
NM_000318.3(PEX2):c.*1842G>C
|
rs184573256
|
0.00523
|
NM_001127649.3(PEX26):c.*925A>G
|
rs115277831
|
0.00523
|
NM_002617.4(PEX10):c.6C>G (p.Ala2=)
|
rs112471479
|
0.00523
|
NM_004565.3(PEX14):c.873C>T (p.His291=)
|
rs115117459
|
0.00516
|
NM_001351132.2(PEX5):c.*20G>C
|
rs145760932
|
0.00512
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_000318.3(PEX2):c.*1040C>G
|
rs139337482
|
0.00490
|
NM_001351132.2(PEX5):c.*1097T>C
|
rs116107198
|
0.00489
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00486
|
NM_003630.3(PEX3):c.-4A>G
|
rs116692495
|
0.00446
|
NM_002857.4(PEX19):c.771+3A>G
|
rs141133579
|
0.00429
|
NM_000286.3(PEX12):c.*509T>G
|
rs192370696
|
0.00415
|
NM_002617.4(PEX10):c.*676C>T
|
rs77863194
|
0.00408
|
NM_001127649.3(PEX26):c.815-13C>T
|
rs139370593
|
0.00381
|
NM_002617.4(PEX10):c.*595G>A
|
rs72924937
|
0.00377
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_000318.3(PEX2):c.*2443A>G
|
rs76770837
|
0.00372
|
NM_000318.3(PEX2):c.*789C>T
|
rs144050052
|
0.00361
|
NM_002617.4(PEX10):c.621C>G (p.Pro207=)
|
rs140107510
|
0.00350
|
NM_144709.4(PUS10):c.-16+254C>G
|
rs147461642
|
0.00345
|
NM_001351132.2(PEX5):c.*114C>T
|
rs187571620
|
0.00329
|
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser)
|
rs12061667
|
0.00324
|
NM_000318.3(PEX2):c.*1448C>T
|
rs184740361
|
0.00303
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=)
|
rs61740909
|
0.00290
|
NM_002618.4(PEX13):c.*944C>T
|
rs148184159
|
0.00287
|
NM_002618.4(PEX13):c.*3012A>G
|
rs144691386
|
0.00283
|
NM_002618.4(PEX13):c.*1724A>T
|
rs137932203
|
0.00282
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys)
|
rs35689779
|
0.00239
|
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
|
rs146312634
|
0.00223
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_001127649.3(PEX26):c.*279G>A
|
rs147096782
|
0.00208
|
NM_004813.4(PEX16):c.*10C>T
|
rs201127195
|
0.00197
|
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)
|
rs149348130
|
0.00192
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
NM_000288.4(PEX7):c.*38G>A
|
rs41288965
|
0.00188
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
|
rs147707348
|
0.00181
|
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)
|
rs138731505
|
0.00180
|
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser)
|
rs201884779
|
0.00179
|
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)
|
rs142648687
|
0.00179
|
NM_000287.4(PEX6):c.685A>G (p.Arg229Gly)
|
rs146571927
|
0.00176
|
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys)
|
rs150046979
|
0.00175
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
NM_001351132.2(PEX5):c.1567T>C (p.Leu523=)
|
rs144165818
|
0.00158
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
NM_000288.4(PEX7):c.*272A>G
|
rs186705952
|
0.00145
|
NM_000466.3(PEX1):c.1797A>G (p.Gly599=)
|
rs76986636
|
0.00140
|
NM_002857.4(PEX19):c.346+14A>G
|
rs77156017
|
0.00133
|
NM_003630.3(PEX3):c.*391G>A
|
rs140007169
|
0.00129
|
NM_000287.4(PEX6):c.1480-5C>T
|
rs376473597
|
0.00126
|
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=)
|
rs143220470
|
0.00124
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00122
|
NM_001127649.3(PEX26):c.911G>A (p.Arg304His)
|
rs17851387
|
0.00121
|
NM_000286.3(PEX12):c.452G>A (p.Arg151His)
|
rs150186509
|
0.00113
|
NM_002618.4(PEX13):c.893T>C (p.Met298Thr)
|
rs138545154
|
0.00110
|
NM_002857.4(PEX19):c.181-5C>T
|
rs199818690
|
0.00109
|
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala)
|
rs77261230
|
0.00105
|
NM_002617.4(PEX10):c.601-27A>G
|
rs144264865
|
0.00103
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr)
|
rs150161574
|
0.00096
|
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)
|
rs61732159
|
0.00093
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
NM_001351132.2(PEX5):c.*462G>C
|
rs75145323
|
0.00089
|
NM_004565.3(PEX14):c.602A>G (p.Asn201Ser)
|
rs142285791
|
0.00083
|
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg)
|
rs12068754
|
0.00080
|
NM_000288.4(PEX7):c.130+11G>A
|
rs886061119
|
0.00079
|
NM_002857.4(PEX19):c.*1802G>C
|
rs745362133
|
0.00079
|
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln)
|
rs145690714
|
0.00070
|
NM_001351132.2(PEX5):c.1638C>T (p.Arg546=)
|
rs142408719
|
0.00070
|
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly)
|
rs147706488
|
0.00070
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_000318.3(PEX2):c.722G>T (p.Gly241Val)
|
rs150734057
|
0.00067
|
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)
|
rs142780305
|
0.00067
|
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu)
|
rs141764012
|
0.00066
|
NM_000466.3(PEX1):c.645C>G (p.Thr215=)
|
rs151041559
|
0.00066
|
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe)
|
rs146354196
|
0.00064
|
NM_000318.3(PEX2):c.*1765G>A
|
rs60300869
|
0.00063
|
NM_000318.3(PEX2):c.237A>G (p.Ser79=)
|
rs138220337
|
0.00063
|
NM_002618.4(PEX13):c.913+15A>G
|
rs185304365
|
0.00060
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys)
|
rs143972531
|
0.00058
|
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu)
|
rs138758170
|
0.00057
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_001351132.2(PEX5):c.1872C>T (p.Asp624=)
|
rs148914171
|
0.00053
|
NM_000318.3(PEX2):c.*2004C>T
|
rs117344716
|
0.00048
|
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=)
|
rs144401814
|
0.00048
|
NM_002857.4(PEX19):c.87C>T (p.Phe29=)
|
rs141911166
|
0.00048
|
NM_004565.3(PEX14):c.78G>A (p.Glu26=)
|
rs144664869
|
0.00047
|
NM_000318.3(PEX2):c.*233C>G
|
rs190595998
|
0.00046
|
NM_001127649.3(PEX26):c.667+8A>G
|
rs200880379
|
0.00046
|
NM_001351132.2(PEX5):c.552-7G>A
|
rs189631769
|
0.00044
|
NM_004813.4(PEX16):c.543G>A (p.Thr181=)
|
rs144063598
|
0.00044
|
NM_002857.4(PEX19):c.255G>A (p.Ala85=)
|
rs150928521
|
0.00043
|
NM_000287.4(PEX6):c.1234-11A>G
|
rs201879957
|
0.00041
|
NM_004813.4(PEX16):c.149-6C>T
|
rs78883829
|
0.00041
|
NM_000466.3(PEX1):c.2718+3A>G
|
rs370536529
|
0.00040
|
NM_002617.4(PEX10):c.816G>T (p.Leu272=)
|
rs144440263
|
0.00040
|
NM_000287.4(PEX6):c.1014C>T (p.Asp338=)
|
rs140806942
|
0.00039
|
NM_000287.4(PEX6):c.1335C>G (p.Leu445=)
|
rs142958800
|
0.00039
|
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val)
|
rs146416679
|
0.00039
|
NM_001351132.2(PEX5):c.754-4G>A
|
rs111286659
|
0.00039
|
NM_002618.4(PEX13):c.226A>G (p.Ser76Gly)
|
rs148296743
|
0.00039
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
NM_003630.3(PEX3):c.*1335A>G
|
rs9403495
|
0.00037
|
NM_002857.4(PEX19):c.402T>C (p.Ser134=)
|
rs139828188
|
0.00036
|
NM_004813.4(PEX16):c.695-15C>T
|
rs187663300
|
0.00036
|
NM_004813.4(PEX16):c.695-6C>T
|
rs372182266
|
0.00036
|
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)
|
rs151312595
|
0.00035
|
NM_002617.4(PEX10):c.765G>A (p.Leu255=)
|
rs140133667
|
0.00035
|
NM_000466.3(PEX1):c.2584-9del
|
rs886062504
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_004565.3(PEX14):c.567C>T (p.His189=)
|
rs147210317
|
0.00033
|
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)
|
rs182452430
|
0.00032
|
NM_001351132.2(PEX5):c.1718+17A>G
|
rs375272295
|
0.00031
|
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser)
|
rs138621982
|
0.00030
|
NM_000287.4(PEX6):c.25C>T (p.Leu9=)
|
rs183449855
|
0.00029
|
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)
|
rs533766104
|
0.00029
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)
|
rs185181696
|
0.00029
|
NM_002617.4(PEX10):c.316C>T (p.Leu106=)
|
rs140340426
|
0.00029
|
NM_004565.3(PEX14):c.1098G>T (p.Arg366=)
|
rs139610784
|
0.00029
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)
|
rs754130942
|
0.00028
|
NM_001127649.3(PEX26):c.*114C>T
|
rs45500699
|
0.00028
|
NM_000318.3(PEX2):c.447T>G (p.Gly149=)
|
rs375401977
|
0.00027
|
NM_000466.3(PEX1):c.273+12T>C
|
rs377192432
|
0.00027
|
NM_001127649.3(PEX26):c.318C>G (p.Val106=)
|
rs142072315
|
0.00027
|
NM_001351132.2(PEX5):c.-17+273G>T
|
rs117442311
|
0.00027
|
NM_001351132.2(PEX5):c.317-15T>C
|
rs187839532
|
0.00027
|
NM_003630.3(PEX3):c.*895G>A
|
rs3804545
|
0.00027
|
NM_000287.4(PEX6):c.306G>T (p.Ala102=)
|
rs727504083
|
0.00026
|
NM_001127649.3(PEX26):c.198C>T (p.Ala66=)
|
rs374290931
|
0.00026
|
NM_001127649.3(PEX26):c.207C>T (p.Ala69=)
|
rs375516973
|
0.00026
|
NM_004813.4(PEX16):c.846C>T (p.Leu282=)
|
rs148019119
|
0.00026
|
NM_004813.4(PEX16):c.887+9C>A
|
rs370590743
|
0.00026
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
NM_004813.4(PEX16):c.1002T>C (p.Ser334=)
|
rs144897515
|
0.00024
|
NM_000466.3(PEX1):c.3030+19G>C
|
rs372197553
|
0.00023
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
NM_002857.4(PEX19):c.457C>T (p.Leu153=)
|
rs752489082
|
0.00022
|
NM_000287.4(PEX6):c.372G>C (p.Leu124=)
|
rs752732049
|
0.00021
|
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser)
|
rs200857848
|
0.00021
|
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)
|
rs145350631
|
0.00021
|
NM_002617.4(PEX10):c.776+8C>T
|
rs370594705
|
0.00021
|
NM_002618.4(PEX13):c.354T>C (p.Phe118=)
|
rs143378216
|
0.00021
|
NM_004565.3(PEX14):c.360A>G (p.Ala120=)
|
rs148479162
|
0.00021
|
NM_004565.3(PEX14):c.400C>G (p.Leu134Val)
|
rs140476337
|
0.00021
|
NM_000286.3(PEX12):c.84T>C (p.Ser28=)
|
rs200641558
|
0.00020
|
NM_000466.3(PEX1):c.129+19G>A
|
rs763458226
|
0.00020
|
NM_002618.4(PEX13):c.18A>G (p.Pro6=)
|
rs769300208
|
0.00020
|
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala)
|
rs187435179
|
0.00019
|
NM_002617.4(PEX10):c.894C>T (p.Thr298=)
|
rs138406081
|
0.00019
|
NM_004565.3(PEX14):c.222C>T (p.Ala74=)
|
rs147043673
|
0.00019
|
NM_002617.4(PEX10):c.27G>A (p.Pro9=)
|
rs559431523
|
0.00018
|
NM_002857.4(PEX19):c.504A>G (p.Glu168=)
|
rs200311685
|
0.00018
|
NM_004565.3(PEX14):c.169+7G>C
|
rs376989411
|
0.00018
|
NM_000287.4(PEX6):c.1961+19C>T
|
rs527464912
|
0.00017
|
NM_000466.3(PEX1):c.3343G>A (p.Glu1115Lys)
|
rs372796096
|
0.00017
|
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)
|
rs201699810
|
0.00017
|
NM_004813.4(PEX16):c.24C>T (p.Gly8=)
|
rs368789483
|
0.00017
|
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)
|
rs142899308
|
0.00016
|
NM_000287.4(PEX6):c.2806+15G>A
|
rs370445298
|
0.00016
|
NM_000466.3(PEX1):c.293C>T (p.Ser98Phe)
|
rs369100815
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_001351132.2(PEX5):c.396T>C (p.Thr132=)
|
rs370827246
|
0.00016
|
NM_001351132.2(PEX5):c.705G>A (p.Ser235=)
|
rs184234003
|
0.00016
|
NM_002857.4(PEX19):c.*169C>T
|
rs192931972
|
0.00016
|
NM_002857.4(PEX19):c.21C>G (p.Gly7=)
|
rs140039683
|
0.00016
|
NM_004813.4(PEX16):c.726G>A (p.Ser242=)
|
rs200414298
|
0.00016
|
NM_004813.4(PEX16):c.999C>T (p.Tyr333=)
|
rs146657010
|
0.00016
|
NM_000287.4(PEX6):c.543G>A (p.Val181=)
|
rs368560418
|
0.00015
|
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr)
|
rs143283146
|
0.00015
|
NM_001351132.2(PEX5):c.129A>G (p.Gly43=)
|
rs932238098
|
0.00015
|
NM_002618.4(PEX13):c.984G>A (p.Ala328=)
|
rs144086063
|
0.00015
|
NM_000287.4(PEX6):c.1131-18T>C
|
rs537952041
|
0.00014
|
NM_000287.4(PEX6):c.2867C>T (p.Ala956Val)
|
rs200115671
|
0.00014
|
NM_000466.3(PEX1):c.159C>T (p.His53=)
|
rs200950057
|
0.00014
|
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val)
|
rs781277635
|
0.00014
|
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn)
|
rs753699011
|
0.00014
|
NM_000466.3(PEX1):c.786G>A (p.Glu262=)
|
rs770453102
|
0.00014
|
NM_001351132.2(PEX5):c.1548C>T (p.Ser516=)
|
rs143571888
|
0.00014
|
NM_002617.4(PEX10):c.423G>A (p.Ala141=)
|
rs138171306
|
0.00014
|
NM_002617.4(PEX10):c.425G>A (p.Arg142Gln)
|
rs138843050
|
0.00014
|
NM_004565.3(PEX14):c.303C>T (p.Pro101=)
|
rs199552789
|
0.00014
|
NM_001127649.3(PEX26):c.501G>A (p.Val167=)
|
rs201666490
|
0.00013
|
NM_004565.3(PEX14):c.1101C>T (p.Pro367=)
|
rs146053705
|
0.00013
|
NM_004565.3(PEX14):c.381C>T (p.Tyr127=)
|
rs372630614
|
0.00013
|
NM_000286.3(PEX12):c.127-19T>C
|
rs1008239545
|
0.00012
|
NM_000466.3(PEX1):c.223G>A (p.Glu75Lys)
|
rs759993457
|
0.00012
|
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=)
|
rs150190899
|
0.00012
|
NM_000466.3(PEX1):c.3207+15G>A
|
rs779395013
|
0.00012
|
NM_001127649.3(PEX26):c.668-5G>T
|
rs767742108
|
0.00012
|
NM_001351132.2(PEX5):c.753+10T>C
|
rs373242881
|
0.00012
|
NM_004813.4(PEX16):c.768-20A>G
|
rs368734262
|
0.00012
|
NM_000286.3(PEX12):c.1002G>A (p.Arg334=)
|
rs200283718
|
0.00011
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
NM_000466.3(PEX1):c.1360-17A>G
|
rs372821961
|
0.00011
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)
|
rs199989676
|
0.00011
|
NM_000466.3(PEX1):c.1815A>G (p.Lys605=)
|
rs112688556
|
0.00011
|
NM_000466.3(PEX1):c.88C>T (p.His30Tyr)
|
rs375045292
|
0.00011
|
NM_001351132.2(PEX5):c.1647C>T (p.Leu549=)
|
rs753512677
|
0.00011
|
NM_001351132.2(PEX5):c.258C>T (p.Asp86=)
|
rs144351488
|
0.00011
|
NM_002617.4(PEX10):c.268C>T (p.Leu90=)
|
rs775772867
|
0.00011
|
NM_002617.4(PEX10):c.776+20A>G
|
rs769793734
|
0.00011
|
NM_002617.4(PEX10):c.915G>A (p.Ala305=)
|
rs374891812
|
0.00011
|
NM_002857.4(PEX19):c.195T>C (p.Ala65=)
|
rs777582215
|
0.00011
|
NM_002857.4(PEX19):c.690G>A (p.Glu230=)
|
rs146626996
|
0.00011
|
NM_004565.3(PEX14):c.693A>G (p.Pro231=)
|
rs145899844
|
0.00011
|
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu)
|
rs79954820
|
0.00011
|
NM_004813.4(PEX16):c.635C>G (p.Pro212Arg)
|
rs201846257
|
0.00011
|
NM_004813.4(PEX16):c.952+19G>A
|
rs369341299
|
0.00011
|
NM_000287.4(PEX6):c.843T>C (p.Leu281=)
|
rs758552465
|
0.00010
|
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys)
|
rs201678533
|
0.00010
|
NM_000288.4(PEX7):c.526+19A>G
|
rs760557944
|
0.00010
|
NM_000466.3(PEX1):c.2509C>T (p.Leu837=)
|
rs371701421
|
0.00010
|
NM_000466.3(PEX1):c.666T>C (p.Thr222=)
|
rs145609203
|
0.00010
|
NM_001351132.2(PEX5):c.317-8C>T
|
rs368648650
|
0.00010
|
NM_002857.4(PEX19):c.546A>G (p.Leu182=)
|
rs138837673
|
0.00010
|
NM_004565.3(PEX14):c.488-4G>A
|
rs376837541
|
0.00010
|
NM_000287.4(PEX6):c.1773C>T (p.Leu591=)
|
rs56328719
|
0.00009
|
NM_000466.3(PEX1):c.2227-7T>C
|
rs767127036
|
0.00009
|
NM_001127649.3(PEX26):c.33C>G (p.Pro11=)
|
rs199668827
|
0.00009
|
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)
|
rs138243167
|
0.00009
|
NM_001351132.2(PEX5):c.1875G>A (p.Ala625=)
|
rs371233272
|
0.00009
|
NM_001351132.2(PEX5):c.1893C>T (p.Leu631=)
|
rs143610074
|
0.00009
|
NM_001351132.2(PEX5):c.754-5C>T
|
rs377379933
|
0.00009
|
NM_002618.4(PEX13):c.24C>A (p.Pro8=)
|
rs774943691
|
0.00009
|
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro)
|
rs202077756
|
0.00009
|
NM_002618.4(PEX13):c.9C>T (p.Ser3=)
|
rs745465894
|
0.00009
|
NM_002857.4(PEX19):c.816+14A>T
|
rs558387492
|
0.00009
|
NM_004565.3(PEX14):c.298+11C>T
|
rs368265465
|
0.00009
|
NM_004565.3(PEX14):c.766G>A (p.Val256Met)
|
rs143378690
|
0.00009
|
NM_004813.4(PEX16):c.262G>A (p.Val88Met)
|
rs567165324
|
0.00009
|
NM_004813.4(PEX16):c.960C>T (p.Leu320=)
|
rs370792374
|
0.00009
|
NM_000287.4(PEX6):c.1480-4C>G
|
rs767652461
|
0.00008
|
NM_000287.4(PEX6):c.1821C>T (p.Ala607=)
|
rs201730259
|
0.00008
|
NM_000287.4(PEX6):c.390C>T (p.Thr130=)
|
rs753963225
|
0.00008
|
NM_000318.3(PEX2):c.288G>A (p.Gln96=)
|
rs370236723
|
0.00008
|
NM_000318.3(PEX2):c.570C>T (p.Tyr190=)
|
rs769765158
|
0.00008
|
NM_000466.3(PEX1):c.3637-14T>C
|
rs745612436
|
0.00008
|
NM_000466.3(PEX1):c.3762T>C (p.Ala1254=)
|
rs375213175
|
0.00008
|
NM_001351132.2(PEX5):c.1869C>T (p.Ala623=)
|
rs755919579
|
0.00008
|
NM_002617.4(PEX10):c.576C>G (p.Ala192=)
|
rs376805362
|
0.00008
|
NM_002617.4(PEX10):c.78G>A (p.Arg26=)
|
rs987035031
|
0.00008
|
NM_002857.4(PEX19):c.771+18C>T
|
rs1336101202
|
0.00008
|
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)
|
rs193253559
|
0.00007
|
NM_000287.4(PEX6):c.1680C>T (p.Pro560=)
|
rs372998833
|
0.00007
|
NM_000287.4(PEX6):c.219G>A (p.Gln73=)
|
rs191944205
|
0.00007
|
NM_000288.4(PEX7):c.315A>T (p.Gln105His)
|
rs767901695
|
0.00007
|
NM_000466.3(PEX1):c.1659G>C (p.Leu553=)
|
rs562108145
|
0.00007
|
NM_000466.3(PEX1):c.23C>A (p.Ala8Glu)
|
rs537242377
|
0.00007
|
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)
|
rs545731416
|
0.00007
|
NM_001351132.2(PEX5):c.1182-9A>T
|
rs375860970
|
0.00007
|
NM_002617.4(PEX10):c.36C>T (p.Ile12=)
|
rs952907703
|
0.00007
|
NM_004813.4(PEX16):c.360-7G>A
|
rs202161790
|
0.00007
|
NM_004813.4(PEX16):c.702C>T (p.Ser234=)
|
rs138485159
|
0.00007
|
NM_000286.3(PEX12):c.834C>T (p.Ala278=)
|
rs755457602
|
0.00006
|
NM_000287.4(PEX6):c.1962-15T>C
|
rs756925757
|
0.00006
|
NM_000287.4(PEX6):c.2244C>T (p.Thr748=)
|
rs372593973
|
0.00006
|
NM_000288.4(PEX7):c.*115A>G
|
rs41288967
|
0.00006
|
NM_000288.4(PEX7):c.126C>T (p.Ile42=)
|
rs1464741803
|
0.00006
|
NM_000318.3(PEX2):c.738A>G (p.Leu246=)
|
rs376101275
|
0.00006
|
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala)
|
rs371309198
|
0.00006
|
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)
|
rs145153467
|
0.00006
|
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)
|
rs371327573
|
0.00006
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
NM_000466.3(PEX1):c.2927-12T>A
|
rs375062546
|
0.00006
|
NM_000466.3(PEX1):c.3009A>G (p.Val1003=)
|
rs560095065
|
0.00006
|
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)
|
rs372485912
|
0.00006
|
NM_001127649.3(PEX26):c.*566T>C
|
rs541332240
|
0.00006
|
NM_001127649.3(PEX26):c.441C>T (p.Asp147=)
|
rs770611373
|
0.00006
|
NM_001351132.2(PEX5):c.1110+16G>A
|
rs372043071
|
0.00006
|
NM_001351132.2(PEX5):c.1689C>T (p.Gly563=)
|
rs376612398
|
0.00006
|
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=)
|
rs370306007
|
0.00006
|
NM_001351132.2(PEX5):c.1848G>A (p.Gln616=)
|
rs551068158
|
0.00006
|
NM_001351132.2(PEX5):c.643-17G>A
|
rs372199869
|
0.00006
|
NM_001351132.2(PEX5):c.831C>T (p.Ala277=)
|
rs747216258
|
0.00006
|
NM_001351132.2(PEX5):c.967-13G>A
|
rs900261902
|
0.00006
|
NM_002617.4(PEX10):c.194-19C>T
|
rs199777923
|
0.00006
|
NM_002617.4(PEX10):c.267G>A (p.Ser89=)
|
rs746952615
|
0.00006
|
NM_002617.4(PEX10):c.555C>T (p.His185=)
|
rs75377471
|
0.00006
|
NM_002617.4(PEX10):c.771C>T (p.His257=)
|
rs776503441
|
0.00006
|
NM_002617.4(PEX10):c.912+17C>T
|
rs757219158
|
0.00006
|
NM_002618.4(PEX13):c.408T>A (p.Ile136=)
|
rs145776973
|
0.00006
|
NM_002618.4(PEX13):c.750T>C (p.Ile250=)
|
rs765039738
|
0.00006
|
NM_002857.4(PEX19):c.347-7C>T
|
rs753523567
|
0.00006
|
NM_002857.4(PEX19):c.348C>T (p.Gly116=)
|
rs144361779
|
0.00006
|
NM_004565.3(PEX14):c.26A>T (p.Gln9Leu)
|
rs201979629
|
0.00006
|
NM_004565.3(PEX14):c.298+12G>A
|
rs572650599
|
0.00006
|
NM_004565.3(PEX14):c.36+10G>A
|
rs780024607
|
0.00006
|
NM_004565.3(PEX14):c.84+20G>T
|
rs377686703
|
0.00006
|
NM_004813.4(PEX16):c.225+18A>T
|
rs369008253
|
0.00006
|
NM_004813.4(PEX16):c.360-18A>C
|
rs376700606
|
0.00006
|
NM_004813.4(PEX16):c.423C>T (p.Ile141=)
|
rs754277134
|
0.00006
|
NM_004813.4(PEX16):c.654C>G (p.Thr218=)
|
rs372347595
|
0.00006
|
NM_000286.3(PEX12):c.156T>C (p.Tyr52=)
|
rs373145272
|
0.00005
|
NM_000286.3(PEX12):c.597G>A (p.Gln199=)
|
rs756193716
|
0.00005
|
NM_000287.4(PEX6):c.2229T>C (p.His743=)
|
rs145849057
|
0.00005
|
NM_000287.4(PEX6):c.2730G>A (p.Thr910=)
|
rs774721609
|
0.00005
|
NM_000288.4(PEX7):c.237C>T (p.Asn79=)
|
rs752745963
|
0.00005
|
NM_000318.3(PEX2):c.642G>A (p.Gln214=)
|
rs1201496727
|
0.00005
|
NM_000318.3(PEX2):c.798C>T (p.Phe266=)
|
rs143661965
|
0.00005
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
NM_000466.3(PEX1):c.1803+14G>A
|
rs376403633
|
0.00005
|
NM_001351132.2(PEX5):c.642+19C>G
|
rs759232327
|
0.00005
|
NM_001351132.2(PEX5):c.967-15G>A
|
rs201341037
|
0.00005
|
NM_002617.4(PEX10):c.51G>A (p.Lys17=)
|
rs777938524
|
0.00005
|
NM_002617.4(PEX10):c.601-16G>A
|
rs554294948
|
0.00005
|
NM_002617.4(PEX10):c.711C>T (p.Tyr237=)
|
rs761005209
|
0.00005
|
NM_002618.4(PEX13):c.93-18A>C
|
rs773183074
|
0.00005
|
NM_004565.3(PEX14):c.1074C>T (p.Asn358=)
|
rs765001984
|
0.00005
|
NM_004565.3(PEX14):c.299-6C>T
|
rs764273994
|
0.00005
|
NM_004565.3(PEX14):c.299-9C>T
|
rs531729105
|
0.00005
|
NM_004565.3(PEX14):c.36+20C>T
|
rs376946441
|
0.00005
|
NM_004565.3(PEX14):c.465G>A (p.Leu155=)
|
rs371111233
|
0.00005
|
NM_004565.3(PEX14):c.699A>C (p.Pro233=)
|
rs758943034
|
0.00005
|
NM_004565.3(PEX14):c.819G>A (p.Ser273=)
|
rs139518305
|
0.00005
|
NM_000286.3(PEX12):c.127-12A>G
|
rs770008536
|
0.00004
|
NM_000286.3(PEX12):c.189T>C (p.Phe63=)
|
rs369640430
|
0.00004
|
NM_000286.3(PEX12):c.409C>T (p.Leu137=)
|
rs17852912
|
0.00004
|
NM_000286.3(PEX12):c.420G>A (p.Glu140=)
|
rs745813377
|
0.00004
|
NM_000287.4(PEX6):c.1206C>T (p.Ala402=)
|
rs756358409
|
0.00004
|
NM_000287.4(PEX6):c.2095-12T>G
|
rs760820489
|
0.00004
|
NM_000287.4(PEX6):c.2095-19C>T
|
rs201875496
|
0.00004
|
NM_000287.4(PEX6):c.2124T>C (p.Gly708=)
|
rs199661664
|
0.00004
|
NM_000287.4(PEX6):c.2604G>A (p.Val868=)
|
rs761123181
|
0.00004
|
NM_000287.4(PEX6):c.2666+16G>C
|
rs753900168
|
0.00004
|
NM_000287.4(PEX6):c.2736G>A (p.Ala912=)
|
rs202049230
|
0.00004
|
NM_000287.4(PEX6):c.411G>A (p.Arg137=)
|
rs769196737
|
0.00004
|
NM_000287.4(PEX6):c.657G>A (p.Gln219=)
|
rs375588028
|
0.00004
|
NM_000287.4(PEX6):c.690G>A (p.Glu230=)
|
rs368341252
|
0.00004
|
NM_000287.4(PEX6):c.807A>G (p.Gly269=)
|
rs774117516
|
0.00004
|
NM_000287.4(PEX6):c.903C>T (p.Ile301=)
|
rs772083436
|
0.00004
|
NM_000287.4(PEX6):c.939T>C (p.Pro313=)
|
rs151234121
|
0.00004
|
NM_000288.4(PEX7):c.171G>C (p.Gly57=)
|
rs750791932
|
0.00004
|
NM_000288.4(PEX7):c.418-18C>G
|
rs747545013
|
0.00004
|
NM_000288.4(PEX7):c.630T>C (p.Asn210=)
|
rs1466368201
|
0.00004
|
NM_000288.4(PEX7):c.804-5C>T
|
rs369653173
|
0.00004
|
NM_000318.3(PEX2):c.222C>T (p.Ala74=)
|
rs370886270
|
0.00004
|
NM_000318.3(PEX2):c.621C>G (p.Leu207=)
|
rs1364915907
|
0.00004
|
NM_000466.3(PEX1):c.129+16C>G
|
rs376609246
|
0.00004
|
NM_000466.3(PEX1):c.130-18C>A
|
rs532589095
|
0.00004
|
NM_000466.3(PEX1):c.1670+19A>G
|
rs201646121
|
0.00004
|
NM_000466.3(PEX1):c.1827C>T (p.Ala609=)
|
rs766421421
|
0.00004
|
NM_000466.3(PEX1):c.1901-18C>T
|
rs375207681
|
0.00004
|
NM_000466.3(PEX1):c.2046G>A (p.Ala682=)
|
rs144845259
|
0.00004
|
NM_000466.3(PEX1):c.2124G>C (p.Leu708=)
|
rs200258130
|
0.00004
|
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)
|
rs374010060
|
0.00004
|
NM_001127649.3(PEX26):c.668-18C>T
|
rs771685854
|
0.00004
|
NM_001127649.3(PEX26):c.786C>G (p.Leu262=)
|
rs759864013
|
0.00004
|
NM_001351132.2(PEX5):c.1561-20G>A
|
rs753353124
|
0.00004
|
NM_001351132.2(PEX5):c.1695C>T (p.Ser565=)
|
rs755547376
|
0.00004
|
NM_001351132.2(PEX5):c.1890C>T (p.Thr630=)
|
rs779933516
|
0.00004
|
NM_001351132.2(PEX5):c.449-8C>T
|
rs771181829
|
0.00004
|
NM_001351132.2(PEX5):c.543C>T (p.Thr181=)
|
rs138205085
|
0.00004
|
NM_001351132.2(PEX5):c.551+13A>C
|
rs372527455
|
0.00004
|
NM_001351132.2(PEX5):c.753+20C>T
|
rs975426592
|
0.00004
|
NM_002617.4(PEX10):c.144G>A (p.Glu48=)
|
rs141263967
|
0.00004
|
NM_002617.4(PEX10):c.193+14C>A
|
rs768652461
|
0.00004
|
NM_002617.4(PEX10):c.193+15G>A
|
rs745845751
|
0.00004
|
NM_002617.4(PEX10):c.601-55G>A
|
rs751098874
|
0.00004
|
NM_002617.4(PEX10):c.601-7C>T
|
rs772097260
|
0.00004
|
NM_002618.4(PEX13):c.156C>T (p.Pro52=)
|
rs562629125
|
0.00004
|
NM_002618.4(PEX13):c.270T>C (p.Tyr90=)
|
rs946922546
|
0.00004
|
NM_002618.4(PEX13):c.294T>C (p.Tyr98=)
|
rs762328486
|
0.00004
|
NM_002857.4(PEX19):c.159A>G (p.Arg53=)
|
rs1218867675
|
0.00004
|
NM_002857.4(PEX19):c.595-19C>T
|
rs764622800
|
0.00004
|
NM_002857.4(PEX19):c.70+8C>T
|
rs371723760
|
0.00004
|
NM_002857.4(PEX19):c.786C>T (p.Gly262=)
|
rs146846475
|
0.00004
|
NM_004565.3(PEX14):c.297C>T (p.Tyr99=)
|
rs371473184
|
0.00004
|
NM_004565.3(PEX14):c.330C>T (p.Gly110=)
|
rs772527603
|
0.00004
|
NM_004565.3(PEX14):c.399C>G (p.Pro133=)
|
rs147609213
|
0.00004
|
NM_004565.3(PEX14):c.762G>A (p.Ala254=)
|
rs572037966
|
0.00004
|
NM_004565.3(PEX14):c.882C>G (p.Gly294=)
|
rs928631810
|
0.00004
|
NM_004565.3(PEX14):c.93G>A (p.Thr31=)
|
rs139797106
|
0.00004
|
NM_004565.3(PEX14):c.975C>T (p.Asp325=)
|
rs754716817
|
0.00004
|
NM_004565.3(PEX14):c.996T>C (p.Asp332=)
|
rs201978719
|
0.00004
|
NM_004813.4(PEX16):c.103C>T (p.Leu35=)
|
rs1427588700
|
0.00004
|
NM_004813.4(PEX16):c.186C>T (p.Asp62=)
|
rs757594159
|
0.00004
|
NM_004813.4(PEX16):c.18C>G (p.Leu6=)
|
rs921940265
|
0.00004
|
NM_004813.4(PEX16):c.252A>G (p.Thr84=)
|
rs367893667
|
0.00004
|
NM_144709.4(PUS10):c.-16+137C>G
|
rs1303497941
|
0.00004
|
NM_000286.3(PEX12):c.447T>C (p.Ser149=)
|
rs375119247
|
0.00003
|
NM_000286.3(PEX12):c.543C>T (p.Tyr181=)
|
rs192653658
|
0.00003
|
NM_000286.3(PEX12):c.681-15C>G
|
rs371906447
|
0.00003
|
NM_000287.4(PEX6):c.1234-10C>T
|
rs370661410
|
0.00003
|
NM_000287.4(PEX6):c.1455T>C (p.Ser485=)
|
rs749798782
|
0.00003
|
NM_000287.4(PEX6):c.1480-14G>A
|
rs558979502
|
0.00003
|
NM_000287.4(PEX6):c.1857C>T (p.Asn619=)
|
rs140285166
|
0.00003
|
NM_000287.4(PEX6):c.21G>T (p.Arg7=)
|
rs908910430
|
0.00003
|
NM_000287.4(PEX6):c.2493C>T (p.Ala831=)
|
rs775778545
|
0.00003
|
NM_000287.4(PEX6):c.465G>C (p.Leu155=)
|
rs1187015124
|
0.00003
|
NM_000287.4(PEX6):c.483C>T (p.Arg161=)
|
rs772034979
|
0.00003
|
NM_000287.4(PEX6):c.904G>A (p.Ala302Thr)
|
rs368503571
|
0.00003
|
NM_000288.4(PEX7):c.340-8G>A
|
rs528317074
|
0.00003
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
NM_000288.4(PEX7):c.648C>T (p.Thr216=)
|
rs754226264
|
0.00003
|
NM_000288.4(PEX7):c.804-19C>T
|
rs768001113
|
0.00003
|
NM_000288.4(PEX7):c.867T>C (p.Thr289=)
|
rs936175997
|
0.00003
|
NM_000288.4(PEX7):c.903+13A>G
|
rs780555523
|
0.00003
|
NM_000288.4(PEX7):c.903+8A>G
|
rs779919482
|
0.00003
|
NM_000466.3(PEX1):c.1059A>G (p.Leu353=)
|
rs774522579
|
0.00003
|
NM_000466.3(PEX1):c.1281T>C (p.His427=)
|
rs979077056
|
0.00003
|
NM_000466.3(PEX1):c.1360-19C>G
|
rs760820104
|
0.00003
|
NM_000466.3(PEX1):c.1587+7G>A
|
rs371765274
|
0.00003
|
NM_000466.3(PEX1):c.1995C>T (p.Asp665=)
|
rs758706584
|
0.00003
|
NM_000466.3(PEX1):c.2028T>C (p.His676=)
|
rs774256047
|
0.00003
|
NM_000466.3(PEX1):c.2121A>G (p.Ala707=)
|
rs771334207
|
0.00003
|
NM_000466.3(PEX1):c.2584-13_2584-12insG
|
rs955834633
|
0.00003
|
NM_000466.3(PEX1):c.2646G>A (p.Pro882=)
|
rs775421085
|
0.00003
|
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=)
|
rs776231556
|
0.00003
|
NM_000466.3(PEX1):c.363G>T (p.Leu121=)
|
rs200866361
|
0.00003
|
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)
|
rs753823218
|
0.00003
|
NM_001127649.3(PEX26):c.804A>G (p.Arg268=)
|
rs1055672932
|
0.00003
|
NM_001351132.2(PEX5):c.1181+9A>G
|
rs774173665
|
0.00003
|
NM_001351132.2(PEX5):c.156G>A (p.Lys52=)
|
rs1374555547
|
0.00003
|
NM_001351132.2(PEX5):c.317-6T>C
|
rs755945291
|
0.00003
|
NM_001351132.2(PEX5):c.492G>A (p.Leu164=)
|
rs779720569
|
0.00003
|
NM_001351132.2(PEX5):c.551+15C>T
|
rs886049825
|
0.00003
|
NM_001351132.2(PEX5):c.552-18_552-17insCCC
|
rs1385408187
|
0.00003
|
NM_001351132.2(PEX5):c.693C>T (p.Ser231=)
|
rs140332077
|
0.00003
|
NM_001351132.2(PEX5):c.957C>T (p.Thr319=)
|
rs1208975053
|
0.00003
|
NM_002617.4(PEX10):c.111G>T (p.Ala37=)
|
rs1227962505
|
0.00003
|
NM_002617.4(PEX10):c.280G>A (p.Val94Met)
|
rs142626035
|
0.00003
|
NM_002617.4(PEX10):c.363C>T (p.Pro121=)
|
rs543982780
|
0.00003
|
NM_002617.4(PEX10):c.477G>A (p.Ala159=)
|
rs755353408
|
0.00003
|
NM_002617.4(PEX10):c.588G>A (p.Thr196=)
|
rs766103610
|
0.00003
|
NM_002617.4(PEX10):c.601-75G>A
|
rs369211467
|
0.00003
|
NM_002618.4(PEX13):c.126A>G (p.Arg42=)
|
rs781477994
|
0.00003
|
NM_002618.4(PEX13):c.54G>A (p.Pro18=)
|
rs1002699754
|
0.00003
|
NM_002618.4(PEX13):c.787+12G>A
|
rs371678615
|
0.00003
|
NM_002618.4(PEX13):c.914-4T>A
|
rs774237731
|
0.00003
|
NM_002857.4(PEX19):c.225C>T (p.Phe75=)
|
rs751536744
|
0.00003
|
NM_002857.4(PEX19):c.432+12G>A
|
rs1265994490
|
0.00003
|
NM_002857.4(PEX19):c.595-17A>G
|
rs753045868
|
0.00003
|
NM_002857.4(PEX19):c.772-8T>C
|
rs367964884
|
0.00003
|
NM_004565.3(PEX14):c.488-5C>T
|
rs767128417
|
0.00003
|
NM_004565.3(PEX14):c.744G>A (p.Pro248=)
|
rs145103775
|
0.00003
|
NM_004565.3(PEX14):c.807C>T (p.Asn269=)
|
rs757658916
|
0.00003
|
NM_004565.3(PEX14):c.855C>G (p.Gly285=)
|
rs201107513
|
0.00003
|
NM_004565.3(PEX14):c.945C>T (p.Gly315=)
|
rs560264914
|
0.00003
|
NM_004813.4(PEX16):c.113-4C>T
|
rs199760503
|
0.00003
|
NM_004813.4(PEX16):c.180C>T (p.Leu60=)
|
rs779326282
|
0.00003
|
NM_004813.4(PEX16):c.273C>T (p.Cys91=)
|
rs146476007
|
0.00003
|
NM_004813.4(PEX16):c.694+12G>A
|
rs766275337
|
0.00003
|
NM_004813.4(PEX16):c.694+14G>A
|
rs750448293
|
0.00003
|
NM_004813.4(PEX16):c.888-7C>T
|
rs890395851
|
0.00003
|
NM_004813.4(PEX16):c.921C>T (p.Ala307=)
|
rs377151998
|
0.00003
|
NM_004813.4(PEX16):c.952+8G>T
|
rs756773793
|
0.00003
|
NM_000286.3(PEX12):c.570A>G (p.Ser190=)
|
rs758132842
|
0.00002
|
NM_000286.3(PEX12):c.915A>T (p.Pro305=)
|
rs748595918
|
0.00002
|
NM_000287.4(PEX6):c.1047-4G>T
|
rs748779475
|
0.00002
|
NM_000287.4(PEX6):c.106C>T (p.Leu36=)
|
rs758416830
|
0.00002
|
NM_000287.4(PEX6):c.1104G>A (p.Leu368=)
|
rs551645410
|
0.00002
|
NM_000287.4(PEX6):c.1130+18G>C
|
rs201799034
|
0.00002
|
NM_000287.4(PEX6):c.1137G>T (p.Arg379=)
|
rs766574538
|
0.00002
|
NM_000287.4(PEX6):c.1437A>G (p.Val479=)
|
rs769120023
|
0.00002
|
NM_000287.4(PEX6):c.1587A>C (p.Thr529=)
|
rs372775539
|
0.00002
|
NM_000287.4(PEX6):c.1689-19C>T
|
rs369595295
|
0.00002
|
NM_000287.4(PEX6):c.1746T>C (p.Asp582=)
|
rs756462650
|
0.00002
|
NM_000287.4(PEX6):c.192C>G (p.Thr64=)
|
rs1310661091
|
0.00002
|
NM_000287.4(PEX6):c.1961+11G>A
|
rs778693003
|
0.00002
|
NM_000287.4(PEX6):c.1963T>C (p.Leu655=)
|
rs751189574
|
0.00002
|
NM_000287.4(PEX6):c.2079C>T (p.Ala693=)
|
rs774509670
|
0.00002
|
NM_000287.4(PEX6):c.2139G>A (p.Val713=)
|
rs1355851692
|
0.00002
|
NM_000287.4(PEX6):c.2257C>T (p.Leu753=)
|
rs771551469
|
0.00002
|
NM_000287.4(PEX6):c.2280G>A (p.Glu760=)
|
rs538125198
|
0.00002
|
NM_000287.4(PEX6):c.2310G>A (p.Gly770=)
|
rs775473162
|
0.00002
|
NM_000287.4(PEX6):c.2362+13G>A
|
rs754139118
|
0.00002
|
NM_000287.4(PEX6):c.2362+18G>A
|
rs926733722
|
0.00002
|
NM_000287.4(PEX6):c.2363-12C>G
|
rs762548205
|
0.00002
|
NM_000287.4(PEX6):c.2397T>C (p.Ile799=)
|
rs773184108
|
0.00002
|
NM_000287.4(PEX6):c.2643C>T (p.Arg881=)
|
rs150853105
|
0.00002
|
NM_000287.4(PEX6):c.2666+9T>C
|
rs759681405
|
0.00002
|
NM_000287.4(PEX6):c.2884G>A (p.Val962Ile)
|
rs771029096
|
0.00002
|
NM_000287.4(PEX6):c.367C>T (p.Leu123=)
|
rs758218388
|
0.00002
|
NM_000287.4(PEX6):c.558G>A (p.Ala186=)
|
rs1443640798
|
0.00002
|
NM_000287.4(PEX6):c.621G>A (p.Val207=)
|
rs778798903
|
0.00002
|
NM_000287.4(PEX6):c.732C>T (p.Val244=)
|
rs768532180
|
0.00002
|
NM_000287.4(PEX6):c.882+8A>G
|
rs368663953
|
0.00002
|
NM_000288.4(PEX7):c.111G>A (p.Ala37=)
|
rs1434570255
|
0.00002
|
NM_000288.4(PEX7):c.159A>G (p.Pro53=)
|
rs767077870
|
0.00002
|
NM_000288.4(PEX7):c.243T>C (p.His81=)
|
rs749192451
|
0.00002
|
NM_000288.4(PEX7):c.685A>C (p.Arg229=)
|
rs772891476
|
0.00002
|
NM_000288.4(PEX7):c.748-9T>C
|
rs777611969
|
0.00002
|
NM_000288.4(PEX7):c.786G>A (p.Ser262=)
|
rs751419048
|
0.00002
|
NM_000288.4(PEX7):c.971G>A (p.Ter324=)
|
rs374574552
|
0.00002
|
NM_000318.3(PEX2):c.174G>A (p.Ala58=)
|
rs150987080
|
0.00002
|
NM_000318.3(PEX2):c.732C>T (p.Cys244=)
|
rs142121434
|
0.00002
|
NM_000318.3(PEX2):c.795T>C (p.Tyr265=)
|
rs764785488
|
0.00002
|
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)
|
rs544763390
|
0.00002
|
NM_000466.3(PEX1):c.1020T>C (p.Ser340=)
|
rs761181376
|
0.00002
|
NM_000466.3(PEX1):c.1359+16T>C
|
rs201631453
|
0.00002
|
NM_000466.3(PEX1):c.1486C>T (p.Leu496=)
|
rs746430468
|
0.00002
|
NM_000466.3(PEX1):c.1494A>G (p.Glu498=)
|
rs774980172
|
0.00002
|
NM_000466.3(PEX1):c.1566G>C (p.Leu522Phe)
|
rs145471560
|
0.00002
|
NM_000466.3(PEX1):c.1635C>T (p.Asp545=)
|
rs759202828
|
0.00002
|
NM_000466.3(PEX1):c.1900+7G>A
|
rs1474660103
|
0.00002
|
NM_000466.3(PEX1):c.2072-17A>G
|
rs557824423
|
0.00002
|
NM_000466.3(PEX1):c.2268A>G (p.Lys756=)
|
rs1434174453
|
0.00002
|
NM_000466.3(PEX1):c.2269T>C (p.Leu757=)
|
rs776758878
|
0.00002
|
NM_000466.3(PEX1):c.2715C>G (p.Val905=)
|
rs748602242
|
0.00002
|
NM_000466.3(PEX1):c.2719-18del
|
rs779261740
|
0.00002
|
NM_000466.3(PEX1):c.2784-15G>T
|
rs749338208
|
0.00002
|
NM_000466.3(PEX1):c.2961C>T (p.Asp987=)
|
rs750723164
|
0.00002
|
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=)
|
rs148972713
|
0.00002
|
NM_000466.3(PEX1):c.3824G>A (p.Arg1275Gln)
|
rs150793635
|
0.00002
|
NM_000466.3(PEX1):c.477A>C (p.Ala159=)
|
rs759628709
|
0.00002
|
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)
|
rs773922257
|
0.00002
|
NM_000466.3(PEX1):c.897C>T (p.Asn299=)
|
rs559305030
|
0.00002
|
NM_000466.3(PEX1):c.966T>C (p.Phe322=)
|
rs375550740
|
0.00002
|
NM_001127649.3(PEX26):c.231-19T>C
|
rs371362038
|
0.00002
|
NM_001127649.3(PEX26):c.381A>G (p.Leu127=)
|
rs781745366
|
0.00002
|
NM_001127649.3(PEX26):c.558C>T (p.Ala186=)
|
rs372621690
|
0.00002
|
NM_001351132.2(PEX5):c.1080A>T (p.Ala360=)
|
rs776221090
|
0.00002
|
NM_001351132.2(PEX5):c.1111-4C>G
|
rs376699778
|
0.00002
|
NM_001351132.2(PEX5):c.1394+14G>T
|
rs756329980
|
0.00002
|
NM_001351132.2(PEX5):c.1395-7C>T
|
rs771862091
|
0.00002
|
NM_001351132.2(PEX5):c.148-7C>T
|
rs1295383488
|
0.00002
|
NM_001351132.2(PEX5):c.1677C>T (p.Arg559=)
|
rs756477662
|
0.00002
|
NM_001351132.2(PEX5):c.318C>T (p.Ala106=)
|
rs149185061
|
0.00002
|
NM_001351132.2(PEX5):c.551+14C>T
|
rs375606946
|
0.00002
|
NM_001351132.2(PEX5):c.591G>A (p.Thr197=)
|
rs146024341
|
0.00002
|
NM_001351132.2(PEX5):c.63C>T (p.Ala21=)
|
rs374590365
|
0.00002
|
NM_001351132.2(PEX5):c.642+16C>T
|
rs768913130
|
0.00002
|
NM_001351132.2(PEX5):c.69C>T (p.His23=)
|
rs976676879
|
0.00002
|
NM_001351132.2(PEX5):c.754-17A>G
|
rs779717442
|
0.00002
|
NM_001351132.2(PEX5):c.75C>T (p.Thr25=)
|
rs770949712
|
0.00002
|
NM_001351132.2(PEX5):c.909T>C (p.Ala303=)
|
rs376649488
|
0.00002
|
NM_001351132.2(PEX5):c.966+18_966+19dup
|
rs781032142
|
0.00002
|
NM_001351132.2(PEX5):c.967-16C>T
|
rs764842874
|
0.00002
|
NM_002617.4(PEX10):c.193+8C>T
|
rs371502874
|
0.00002
|
NM_002617.4(PEX10):c.194-10T>C
|
rs770764603
|
0.00002
|
NM_002617.4(PEX10):c.219C>T (p.Tyr73=)
|
rs531987102
|
0.00002
|
NM_002617.4(PEX10):c.447G>A (p.Thr149=)
|
rs759220912
|
0.00002
|
NM_002617.4(PEX10):c.513C>T (p.Leu171=)
|
rs772790675
|
0.00002
|
NM_002617.4(PEX10):c.597G>A (p.Thr199=)
|
rs750002192
|
0.00002
|
NM_002617.4(PEX10):c.600+14G>A
|
rs763465246
|
0.00002
|
NM_002617.4(PEX10):c.912+18T>C
|
rs778438020
|
0.00002
|
NM_002618.4(PEX13):c.285T>G (p.Pro95=)
|
rs749465384
|
0.00002
|
NM_002618.4(PEX13):c.378C>T (p.Ser126=)
|
rs939500739
|
0.00002
|
NM_002618.4(PEX13):c.759A>G (p.Leu253=)
|
rs752467884
|
0.00002
|
NM_002618.4(PEX13):c.914-16C>G
|
rs987622142
|
0.00002
|
NM_002618.4(PEX13):c.914-5A>G
|
rs374011561
|
0.00002
|
NM_002857.4(PEX19):c.181-4G>A
|
rs747572423
|
0.00002
|
NM_002857.4(PEX19):c.192C>T (p.Phe64=)
|
rs750771594
|
0.00002
|
NM_002857.4(PEX19):c.219A>G (p.Glu73=)
|
rs767113471
|
0.00002
|
NM_002857.4(PEX19):c.447G>A (p.Ser149=)
|
rs749234062
|
0.00002
|
NM_002857.4(PEX19):c.669C>T (p.Ser223=)
|
rs375907790
|
0.00002
|
NM_002857.4(PEX19):c.772-7T>C
|
rs777254776
|
0.00002
|
NM_002857.4(PEX19):c.783A>G (p.Leu261=)
|
rs754972525
|
0.00002
|
NM_004565.3(PEX14):c.1128G>C (p.Arg376=)
|
rs772300180
|
0.00002
|
NM_004565.3(PEX14):c.170-4C>A
|
rs764907398
|
0.00002
|
NM_004565.3(PEX14):c.210G>A (p.Ser70=)
|
rs755185539
|
0.00002
|
NM_004565.3(PEX14):c.327C>T (p.Tyr109=)
|
rs367754543
|
0.00002
|
NM_004565.3(PEX14):c.36+16C>T
|
rs749238226
|
0.00002
|
NM_004565.3(PEX14):c.585+18A>C
|
rs532665793
|
0.00002
|
NM_004565.3(PEX14):c.786C>T (p.Ser262=)
|
rs1286463670
|
0.00002
|
NM_004565.3(PEX14):c.834G>A (p.Lys278=)
|
rs771862572
|
0.00002
|
NM_004565.3(PEX14):c.84+12A>G
|
rs1351156937
|
0.00002
|
NM_004565.3(PEX14):c.849C>T (p.Pro283=)
|
rs752909373
|
0.00002
|
NM_004565.3(PEX14):c.85-8C>T
|
rs778964302
|
0.00002
|
NM_004565.3(PEX14):c.897C>T (p.Gly299=)
|
rs747580093
|
0.00002
|
NM_004565.3(PEX14):c.9C>T (p.Ser3=)
|
rs1476050374
|
0.00002
|
NM_004813.4(PEX16):c.148+10G>A
|
rs189736132
|
0.00002
|
NM_004813.4(PEX16):c.149-13C>G
|
rs369471815
|
0.00002
|
NM_004813.4(PEX16):c.27C>T (p.Leu9=)
|
rs913040375
|
0.00002
|
NM_004813.4(PEX16):c.546G>A (p.Pro182=)
|
rs1026595479
|
0.00002
|
NM_004813.4(PEX16):c.609C>T (p.His203=)
|
rs537046144
|
0.00002
|
NM_004813.4(PEX16):c.657C>T (p.Ile219=)
|
rs200522601
|
0.00002
|
NM_004813.4(PEX16):c.695-5G>A
|
rs775367961
|
0.00002
|
NM_004813.4(PEX16):c.699C>T (p.Leu233=)
|
rs781411790
|
0.00002
|
NM_004813.4(PEX16):c.759C>T (p.Asp253=)
|
rs774788367
|
0.00002
|
NM_004813.4(PEX16):c.768-12C>T
|
rs773840409
|
0.00002
|
NM_004813.4(PEX16):c.885C>T (p.Ser295=)
|
rs200415017
|
0.00002
|
NM_004813.4(PEX16):c.957G>A (p.Pro319=)
|
rs751904831
|
0.00002
|
NM_000286.3(PEX12):c.1014T>G (p.Ala338=)
|
rs1047155507
|
0.00001
|
NM_000286.3(PEX12):c.1062C>G (p.Leu354=)
|
rs981025397
|
0.00001
|
NM_000286.3(PEX12):c.1068C>T (p.Ser356=)
|
rs779530147
|
0.00001
|
NM_000286.3(PEX12):c.114G>A (p.Gln38=)
|
rs949083612
|
0.00001
|
NM_000286.3(PEX12):c.126+8A>G
|
rs1268722683
|
0.00001
|
NM_000286.3(PEX12):c.216A>G (p.Gln72=)
|
rs763213930
|
0.00001
|
NM_000286.3(PEX12):c.261C>T (p.Tyr87=)
|
rs145784404
|
0.00001
|
NM_000286.3(PEX12):c.276T>C (p.Ile92=)
|
rs1439488824
|
0.00001
|
NM_000286.3(PEX12):c.285G>A (p.Gly95=)
|
rs1555549869
|
0.00001
|
NM_000286.3(PEX12):c.307T>C (p.Leu103=)
|
rs765607255
|
0.00001
|
NM_000286.3(PEX12):c.345A>G (p.Lys115=)
|
rs1293631647
|
0.00001
|
NM_000286.3(PEX12):c.388C>T (p.Leu130=)
|
rs773967871
|
0.00001
|
NM_000286.3(PEX12):c.450C>A (p.Ser150=)
|
rs986848130
|
0.00001
|
NM_000286.3(PEX12):c.567C>T (p.His189=)
|
rs777653456
|
0.00001
|
NM_000286.3(PEX12):c.576G>C (p.Leu192=)
|
rs963184861
|
0.00001
|
NM_000286.3(PEX12):c.666G>A (p.Gln222=)
|
rs759295117
|
0.00001
|
NM_000286.3(PEX12):c.708G>A (p.Leu236=)
|
rs1404693909
|
0.00001
|
NM_000286.3(PEX12):c.75A>G (p.Ala25=)
|
rs765205355
|
0.00001
|
NM_000286.3(PEX12):c.826T>C (p.Leu276=)
|
rs1465512430
|
0.00001
|
NM_000287.4(PEX6):c.1032C>T (p.His344=)
|
rs1770222575
|
0.00001
|
NM_000287.4(PEX6):c.1116A>G (p.Pro372=)
|
rs532009370
|
0.00001
|
NM_000287.4(PEX6):c.1125G>T (p.Leu375=)
|
rs1315935379
|
0.00001
|
NM_000287.4(PEX6):c.112C>T (p.Leu38=)
|
rs1295374375
|
0.00001
|
NM_000287.4(PEX6):c.1131-7C>T
|
rs752538584
|
0.00001
|
NM_000287.4(PEX6):c.117C>T (p.Ala39=)
|
rs1425435587
|
0.00001
|
NM_000287.4(PEX6):c.1225T>C (p.Leu409=)
|
rs1243719850
|
0.00001
|
NM_000287.4(PEX6):c.1234-20C>T
|
rs751884285
|
0.00001
|
NM_000287.4(PEX6):c.1251C>T (p.Ser417=)
|
rs995542635
|
0.00001
|
NM_000287.4(PEX6):c.1254T>C (p.Pro418=)
|
rs760255973
|
0.00001
|
NM_000287.4(PEX6):c.1260A>G (p.Pro420=)
|
rs139409107
|
0.00001
|
NM_000287.4(PEX6):c.1281C>T (p.Ser427=)
|
rs1318560741
|
0.00001
|
NM_000287.4(PEX6):c.1326G>A (p.Val442=)
|
rs753300241
|
0.00001
|
NM_000287.4(PEX6):c.1359C>T (p.Leu453=)
|
rs1769988633
|
0.00001
|
NM_000287.4(PEX6):c.1362G>A (p.Gln454=)
|
rs1360001006
|
0.00001
|
NM_000287.4(PEX6):c.1365A>G (p.Pro455=)
|
rs759402659
|
0.00001
|
NM_000287.4(PEX6):c.1367+10G>A
|
rs776610051
|
0.00001
|
NM_000287.4(PEX6):c.1368-19G>A
|
rs1184313908
|
0.00001
|
NM_000287.4(PEX6):c.1374C>T (p.Ala458=)
|
rs1485254916
|
0.00001
|
NM_000287.4(PEX6):c.1380G>A (p.Leu460=)
|
rs764976498
|
0.00001
|
NM_000287.4(PEX6):c.1392C>T (p.Ser464=)
|
rs1345870957
|
0.00001
|
NM_000287.4(PEX6):c.1410C>T (p.Gly470=)
|
rs1206140976
|
0.00001
|
NM_000287.4(PEX6):c.141G>C (p.Pro47=)
|
rs1464923917
|
0.00001
|
NM_000287.4(PEX6):c.1480-18T>C
|
rs1175044137
|
0.00001
|
NM_000287.4(PEX6):c.1480-9C>G
|
rs1421047167
|
0.00001
|
NM_000287.4(PEX6):c.1485C>T (p.Pro495=)
|
rs1202034566
|
0.00001
|
NM_000287.4(PEX6):c.150G>C (p.Pro50=)
|
rs1475357223
|
0.00001
|
NM_000287.4(PEX6):c.1512T>C (p.Ser504=)
|
rs1013102900
|
0.00001
|
NM_000287.4(PEX6):c.1531C>T (p.Leu511=)
|
rs147567606
|
0.00001
|
NM_000287.4(PEX6):c.153G>C (p.Ala51=)
|
rs1179672531
|
0.00001
|
NM_000287.4(PEX6):c.1542C>T (p.Ile514=)
|
rs757884797
|
0.00001
|
NM_000287.4(PEX6):c.1545C>T (p.Phe515=)
|
rs1385021965
|
0.00001
|
NM_000287.4(PEX6):c.1566G>A (p.Arg522=)
|
rs950336722
|
0.00001
|
NM_000287.4(PEX6):c.1605C>T (p.Gly535=)
|
rs1384204316
|
0.00001
|
NM_000287.4(PEX6):c.1689-12C>G
|
rs901956712
|
0.00001
|
NM_000287.4(PEX6):c.169C>T (p.Leu57=)
|
rs1481867777
|
0.00001
|
NM_000287.4(PEX6):c.1737G>A (p.Leu579=)
|
rs766766609
|
0.00001
|
NM_000287.4(PEX6):c.1797G>A (p.Gly599=)
|
rs746770634
|
0.00001
|
NM_000287.4(PEX6):c.1815G>A (p.Leu605=)
|
rs746010714
|
0.00001
|
NM_000287.4(PEX6):c.1858T>C (p.Leu620=)
|
rs1365537744
|
0.00001
|
NM_000287.4(PEX6):c.1885-17T>C
|
rs1205830934
|
0.00001
|
NM_000287.4(PEX6):c.1885-8T>G
|
rs757612297
|
0.00001
|
NM_000287.4(PEX6):c.1902T>C (p.Asp634=)
|
rs761653474
|
0.00001
|
NM_000287.4(PEX6):c.1950C>T (p.Ile650=)
|
rs747394761
|
0.00001
|
NM_000287.4(PEX6):c.1961+10C>T
|
rs779467530
|
0.00001
|
NM_000287.4(PEX6):c.1962-16G>A
|
rs200119040
|
0.00001
|
NM_000287.4(PEX6):c.1962-8C>T
|
rs959360213
|
0.00001
|
NM_000287.4(PEX6):c.2010C>T (p.Ala670=)
|
rs759328524
|
0.00001
|
NM_000287.4(PEX6):c.2061G>A (p.Gln687=)
|
rs1769816755
|
0.00001
|
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp)
|
rs748535121
|
0.00001
|
NM_000287.4(PEX6):c.2095-18G>A
|
rs370867292
|
0.00001
|
NM_000287.4(PEX6):c.2109C>G (p.Ser703=)
|
rs1769810523
|
0.00001
|
NM_000287.4(PEX6):c.2148G>A (p.Glu716=)
|
rs766104579
|
0.00001
|
NM_000287.4(PEX6):c.2172C>T (p.Pro724=)
|
rs1463523319
|
0.00001
|
NM_000287.4(PEX6):c.2182C>T (p.Pro728Ser)
|
rs577794661
|
0.00001
|
NM_000287.4(PEX6):c.2205G>C (p.Leu735=)
|
rs1472222445
|
0.00001
|
NM_000287.4(PEX6):c.2221C>T (p.Leu741=)
|
rs558449356
|
0.00001
|
NM_000287.4(PEX6):c.2247C>A (p.Gly749=)
|
rs770291974
|
0.00001
|
NM_000287.4(PEX6):c.2300+15T>C
|
rs1262534519
|
0.00001
|
NM_000287.4(PEX6):c.2300+16G>A
|
rs1371507879
|
0.00001
|
NM_000287.4(PEX6):c.2331T>C (p.Tyr777=)
|
rs745866848
|
0.00001
|
NM_000287.4(PEX6):c.2362+15A>G
|
rs761201792
|
0.00001
|
NM_000287.4(PEX6):c.2382T>C (p.Ala794=)
|
rs776319615
|
0.00001
|
NM_000287.4(PEX6):c.2439G>A (p.Gly813=)
|
rs139281058
|
0.00001
|
NM_000287.4(PEX6):c.249C>T (p.Leu83=)
|
rs1438441659
|
0.00001
|
NM_000287.4(PEX6):c.2547C>T (p.Asn849=)
|
rs1171568759
|
0.00001
|
NM_000287.4(PEX6):c.2586C>A (p.Gly862=)
|
rs763098526
|
0.00001
|
NM_000287.4(PEX6):c.2666+10G>T
|
rs1391636338
|
0.00001
|
NM_000287.4(PEX6):c.2704C>T (p.Leu902=)
|
rs368544721
|
0.00001
|
NM_000287.4(PEX6):c.2769A>G (p.Thr923=)
|
rs1436900309
|
0.00001
|
NM_000287.4(PEX6):c.2802G>A (p.Glu934=)
|
rs747654294
|
0.00001
|
NM_000287.4(PEX6):c.2807-20C>T
|
rs781291676
|
0.00001
|
NM_000287.4(PEX6):c.2830C>T (p.Leu944=)
|
rs2063704023
|
0.00001
|
NM_000287.4(PEX6):c.2854C>T (p.Leu952=)
|
rs767430981
|
0.00001
|
NM_000287.4(PEX6):c.2877A>G (p.Gln959=)
|
rs562040179
|
0.00001
|
NM_000287.4(PEX6):c.2883A>T (p.Ser961=)
|
rs369656844
|
0.00001
|
NM_000287.4(PEX6):c.2889T>C (p.Ser963=)
|
rs958283171
|
0.00001
|
NM_000287.4(PEX6):c.2928G>A (p.Lys976=)
|
rs1230978438
|
0.00001
|
NM_000287.4(PEX6):c.348C>T (p.Leu116=)
|
rs746578841
|
0.00001
|
NM_000287.4(PEX6):c.360C>T (p.Val120=)
|
rs777743656
|
0.00001
|
NM_000287.4(PEX6):c.39G>A (p.Pro13=)
|
rs908372737
|
0.00001
|
NM_000287.4(PEX6):c.402C>T (p.Pro134=)
|
rs773371109
|
0.00001
|
NM_000287.4(PEX6):c.432G>T (p.Ala144=)
|
rs1400693848
|
0.00001
|
NM_000287.4(PEX6):c.444G>A (p.Leu148=)
|
rs1022934488
|
0.00001
|
NM_000287.4(PEX6):c.468T>C (p.Ala156=)
|
rs1254015920
|
0.00001
|
NM_000287.4(PEX6):c.615A>G (p.Leu205=)
|
rs1417378536
|
0.00001
|
NM_000287.4(PEX6):c.618G>A (p.Gly206=)
|
rs200477648
|
0.00001
|
NM_000287.4(PEX6):c.693A>G (p.Ser231=)
|
rs1379751437
|
0.00001
|
NM_000287.4(PEX6):c.735A>G (p.Leu245=)
|
rs749029501
|
0.00001
|
NM_000287.4(PEX6):c.759T>C (p.Asp253=)
|
rs374342179
|
0.00001
|
NM_000287.4(PEX6):c.75C>T (p.Pro25=)
|
rs1189384100
|
0.00001
|
NM_000287.4(PEX6):c.762A>G (p.Arg254=)
|
rs777826616
|
0.00001
|
NM_000287.4(PEX6):c.777T>C (p.Ser259=)
|
rs1229021041
|
0.00001
|
NM_000287.4(PEX6):c.783G>T (p.Pro261=)
|
rs765629238
|
0.00001
|
NM_000287.4(PEX6):c.795C>G (p.Pro265=)
|
rs545106357
|
0.00001
|
NM_000287.4(PEX6):c.804C>T (p.Asp268=)
|
rs761372470
|
0.00001
|
NM_000287.4(PEX6):c.834T>A (p.Ala278=)
|
rs75600837
|
0.00001
|
NM_000287.4(PEX6):c.84G>A (p.Pro28=)
|
rs1236425028
|
0.00001
|
NM_000287.4(PEX6):c.883-8T>C
|
rs777174653
|
0.00001
|
NM_000287.4(PEX6):c.960G>A (p.Glu320=)
|
rs936251509
|
0.00001
|
NM_000287.4(PEX6):c.987C>G (p.Pro329=)
|
rs775893741
|
0.00001
|
NM_000287.4(PEX6):c.990C>T (p.His330=)
|
rs947712788
|
0.00001
|
NM_000288.4(PEX7):c.131-8C>T
|
rs765917993
|
0.00001
|
NM_000288.4(PEX7):c.144A>G (p.Leu48=)
|
rs1409718476
|
0.00001
|
NM_000288.4(PEX7):c.168T>A (p.Ala56=)
|
rs1159376627
|
0.00001
|
NM_000288.4(PEX7):c.189-17G>A
|
rs775125126
|
0.00001
|
NM_000288.4(PEX7):c.240A>G (p.Glu80=)
|
rs777854575
|
0.00001
|
NM_000288.4(PEX7):c.258T>C (p.Cys86=)
|
rs1220745269
|
0.00001
|
NM_000288.4(PEX7):c.264C>T (p.Gly88=)
|
rs775319689
|
0.00001
|
NM_000288.4(PEX7):c.297A>G (p.Lys99=)
|
rs766858149
|
0.00001
|
NM_000288.4(PEX7):c.309A>G (p.Pro103=)
|
rs1285377553
|
0.00001
|
NM_000288.4(PEX7):c.30G>A (p.Arg10=)
|
rs1330254343
|
0.00001
|
NM_000288.4(PEX7):c.324A>G (p.Lys108=)
|
rs1330909297
|
0.00001
|
NM_000288.4(PEX7):c.34C>T (p.Leu12=)
|
rs1325714867
|
0.00001
|
NM_000288.4(PEX7):c.387G>T (p.Val129=)
|
rs772635570
|
0.00001
|
NM_000288.4(PEX7):c.393C>T (p.Gly131=)
|
rs761074779
|
0.00001
|
NM_000288.4(PEX7):c.417+9G>A
|
rs766476163
|
0.00001
|
NM_000288.4(PEX7):c.42G>A (p.Thr14=)
|
rs1253900568
|
0.00001
|
NM_000288.4(PEX7):c.447C>T (p.Cys149=)
|
rs755710614
|
0.00001
|
NM_000288.4(PEX7):c.450C>T (p.Thr150=)
|
rs1774593832
|
0.00001
|
NM_000288.4(PEX7):c.527-12C>G
|
rs1290336763
|
0.00001
|
NM_000288.4(PEX7):c.634-7T>C
|
rs367566981
|
0.00001
|
NM_000288.4(PEX7):c.63C>T (p.Ala21=)
|
rs935581914
|
0.00001
|
NM_000288.4(PEX7):c.681C>T (p.Asp227=)
|
rs1236779327
|
0.00001
|
NM_000288.4(PEX7):c.726C>T (p.Thr242=)
|
rs762238818
|
0.00001
|
NM_000288.4(PEX7):c.748-10T>C
|
rs886061122
|
0.00001
|
NM_000288.4(PEX7):c.748-14T>A
|
rs1362218138
|
0.00001
|
NM_000288.4(PEX7):c.748-17T>C
|
rs1562746798
|
0.00001
|
NM_000288.4(PEX7):c.78G>A (p.Pro26=)
|
rs1774100373
|
0.00001
|
NM_000288.4(PEX7):c.798T>C (p.Thr266=)
|
rs1173582316
|
0.00001
|
NM_000288.4(PEX7):c.82C>T (p.Leu28=)
|
rs754348931
|
0.00001
|
NM_000288.4(PEX7):c.843A>G (p.Thr281=)
|
rs767903764
|
0.00001
|
NM_000288.4(PEX7):c.903+10A>G
|
rs747530925
|
0.00001
|
NM_000288.4(PEX7):c.96G>A (p.Leu32=)
|
rs1397119638
|
0.00001
|
NM_000288.4(PEX7):c.9G>C (p.Ala3=)
|
rs1475959844
|
0.00001
|
NM_000318.3(PEX2):c.105C>T (p.Ser35=)
|
rs1424842404
|
0.00001
|
NM_000318.3(PEX2):c.129A>G (p.Gly43=)
|
rs779946897
|
0.00001
|
NM_000318.3(PEX2):c.252G>A (p.Lys84=)
|
rs1294597760
|
0.00001
|
NM_000318.3(PEX2):c.327T>C (p.Cys109=)
|
rs746604322
|
0.00001
|
NM_000318.3(PEX2):c.348A>G (p.Leu116=)
|
rs777560932
|
0.00001
|
NM_000318.3(PEX2):c.45A>G (p.Leu15=)
|
rs761947470
|
0.00001
|
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)
|
rs770427885
|
0.00001
|
NM_000318.3(PEX2):c.579G>A (p.Arg193=)
|
rs1395525519
|
0.00001
|
NM_000318.3(PEX2):c.606A>G (p.Glu202=)
|
rs376974246
|
0.00001
|
NM_000318.3(PEX2):c.666A>G (p.Ser222=)
|
rs1806901488
|
0.00001
|
NM_000318.3(PEX2):c.66A>C (p.Ala22=)
|
rs572094828
|
0.00001
|
NM_000318.3(PEX2):c.714C>T (p.Ala238=)
|
rs1432397833
|
0.00001
|
NM_000318.3(PEX2):c.729A>G (p.Glu243=)
|
rs931982876
|
0.00001
|
NM_000318.3(PEX2):c.768C>T (p.Thr256=)
|
rs1806896232
|
0.00001
|
NM_000318.3(PEX2):c.882A>G (p.Lys294=)
|
rs1244697838
|
0.00001
|
NM_000318.3(PEX2):c.891C>T (p.Ile297=)
|
rs995695713
|
0.00001
|
NM_000466.3(PEX1):c.111C>G (p.Ala37=)
|
rs1412682486
|
0.00001
|
NM_000466.3(PEX1):c.1188T>C (p.Asn396=)
|
rs747010300
|
0.00001
|
NM_000466.3(PEX1):c.1240-8A>C
|
rs1439218691
|
0.00001
|
NM_000466.3(PEX1):c.126G>T (p.Leu42=)
|
rs1304440662
|
0.00001
|
NM_000466.3(PEX1):c.129+12G>A
|
rs1417437414
|
0.00001
|
NM_000466.3(PEX1):c.129+7T>G
|
rs765006313
|
0.00001
|
NM_000466.3(PEX1):c.129+9C>T
|
rs761519653
|
0.00001
|
NM_000466.3(PEX1):c.130-13C>G
|
rs747033841
|
0.00001
|
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser)
|
rs560969584
|
0.00001
|
NM_000466.3(PEX1):c.132T>C (p.Asn44=)
|
rs1793081038
|
0.00001
|
NM_000466.3(PEX1):c.1359+10A>G
|
rs1452023751
|
0.00001
|
NM_000466.3(PEX1):c.1395A>G (p.Val465=)
|
rs746561219
|
0.00001
|
NM_000466.3(PEX1):c.1404A>G (p.Ser468=)
|
rs1488590344
|
0.00001
|
NM_000466.3(PEX1):c.1483+8C>T
|
rs911755069
|
0.00001
|
NM_000466.3(PEX1):c.1567C>T (p.Leu523=)
|
rs757119959
|
0.00001
|
NM_000466.3(PEX1):c.1587+11G>A
|
rs1792431360
|
0.00001
|
NM_000466.3(PEX1):c.1662C>T (p.Ser554=)
|
rs763624262
|
0.00001
|
NM_000466.3(PEX1):c.1671-13A>G
|
rs757960956
|
0.00001
|
NM_000466.3(PEX1):c.1689C>T (p.Gly563=)
|
rs776917285
|
0.00001
|
NM_000466.3(PEX1):c.1695C>T (p.Ser565=)
|
rs760925480
|
0.00001
|
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)
|
rs1364124177
|
0.00001
|
NM_000466.3(PEX1):c.1791C>T (p.Leu597=)
|
rs1370887577
|
0.00001
|
NM_000466.3(PEX1):c.1804-16A>T
|
rs1313790749
|
0.00001
|
NM_000466.3(PEX1):c.1901-8G>A
|
rs1260085410
|
0.00001
|
NM_000466.3(PEX1):c.1980G>A (p.Leu660=)
|
rs1486515280
|
0.00001
|
NM_000466.3(PEX1):c.1981C>T (p.Leu661=)
|
rs1480419846
|
0.00001
|
NM_000466.3(PEX1):c.1986T>C (p.Asp662=)
|
rs747406256
|
0.00001
|
NM_000466.3(PEX1):c.2072-6T>C
|
rs761399118
|
0.00001
|
NM_000466.3(PEX1):c.2084T>C (p.Met695Thr)
|
rs112747515
|
0.00001
|
NM_000466.3(PEX1):c.2226+8A>T
|
rs772716358
|
0.00001
|
NM_000466.3(PEX1):c.2280T>C (p.Asp760=)
|
rs749049962
|
0.00001
|
NM_000466.3(PEX1):c.2295C>T (p.Thr765=)
|
rs376748473
|
0.00001
|
NM_000466.3(PEX1):c.2382T>C (p.Ser794=)
|
rs1242105055
|
0.00001
|
NM_000466.3(PEX1):c.2392C>T (p.Arg798Cys)
|
rs61750419
|
0.00001
|
NM_000466.3(PEX1):c.2416+10A>G
|
rs762189230
|
0.00001
|
NM_000466.3(PEX1):c.2457C>T (p.Arg819=)
|
rs779477506
|
0.00001
|
NM_000466.3(PEX1):c.2484T>C (p.Ser828=)
|
rs759689915
|
0.00001
|
NM_000466.3(PEX1):c.2632C>T (p.Leu878=)
|
rs766615075
|
0.00001
|
NM_000466.3(PEX1):c.2655A>G (p.Thr885=)
|
rs759281351
|
0.00001
|
NM_000466.3(PEX1):c.267G>A (p.Gly89=)
|
rs1323919866
|
0.00001
|
NM_000466.3(PEX1):c.2718+9T>A
|
rs758628728
|
0.00001
|
NM_000466.3(PEX1):c.2719-18T>C
|
rs772778880
|
0.00001
|
NM_000466.3(PEX1):c.2719-19C>G
|
rs762582964
|
0.00001
|
NM_000466.3(PEX1):c.274-5T>C
|
rs766795557
|
0.00001
|
NM_000466.3(PEX1):c.2742C>T (p.Tyr914=)
|
rs779097376
|
0.00001
|
NM_000466.3(PEX1):c.2783+11T>A
|
rs762637904
|
0.00001
|
NM_000466.3(PEX1):c.282C>G (p.Leu94=)
|
rs201368809
|
0.00001
|
NM_000466.3(PEX1):c.2853T>C (p.His951=)
|
rs768094112
|
0.00001
|
NM_000466.3(PEX1):c.2895G>C (p.Leu965=)
|
rs1585221185
|
0.00001
|
NM_000466.3(PEX1):c.2927-6C>T
|
rs770779494
|
0.00001
|
NM_000466.3(PEX1):c.2927-8T>C
|
rs778618662
|
0.00001
|
NM_000466.3(PEX1):c.2934T>C (p.Tyr978=)
|
rs755770436
|
0.00001
|
NM_000466.3(PEX1):c.3030+7A>G
|
rs373933048
|
0.00001
|
NM_000466.3(PEX1):c.3042T>G (p.Leu1014=)
|
rs746546952
|
0.00001
|
NM_000466.3(PEX1):c.3102T>C (p.His1034=)
|
rs1199510404
|
0.00001
|
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)
|
rs1009877821
|
0.00001
|
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)
|
rs768417678
|
0.00001
|
NM_000466.3(PEX1):c.3207+9T>C
|
rs771463817
|
0.00001
|
NM_000466.3(PEX1):c.3208-9G>T
|
rs1381356182
|
0.00001
|
NM_000466.3(PEX1):c.3222C>T (p.Ser1074=)
|
rs1327864856
|
0.00001
|
NM_000466.3(PEX1):c.3282C>T (p.Asp1094=)
|
rs577474412
|
0.00001
|
NM_000466.3(PEX1):c.3369C>T (p.Phe1123=)
|
rs773621481
|
0.00001
|
NM_000466.3(PEX1):c.3510G>A (p.Leu1170=)
|
rs368014758
|
0.00001
|
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=)
|
rs374673391
|
0.00001
|
NM_000466.3(PEX1):c.357+14A>G
|
rs1243475329
|
0.00001
|
NM_000466.3(PEX1):c.358-13C>G
|
rs749180235
|
0.00001
|
NM_000466.3(PEX1):c.358-7G>T
|
rs1286759742
|
0.00001
|
NM_000466.3(PEX1):c.3585A>G (p.Gln1195=)
|
rs371622709
|
0.00001
|
NM_000466.3(PEX1):c.3594A>G (p.Ala1198=)
|
rs1234805996
|
0.00001
|
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=)
|
rs753334806
|
0.00001
|
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=)
|
rs777384403
|
0.00001
|
NM_000466.3(PEX1):c.3645A>G (p.Glu1215=)
|
rs483352694
|
0.00001
|
NM_000466.3(PEX1):c.3687T>C (p.Ile1229=)
|
rs368274049
|
0.00001
|
NM_000466.3(PEX1):c.3767+13T>C
|
rs370369794
|
0.00001
|
NM_000466.3(PEX1):c.3767+16del
|
rs781629883
|
0.00001
|
NM_000466.3(PEX1):c.3801A>G (p.Lys1267=)
|
rs375758017
|
0.00001
|
NM_000466.3(PEX1):c.393A>G (p.Leu131=)
|
rs780791624
|
0.00001
|
NM_000466.3(PEX1):c.39C>G (p.Gly13=)
|
rs746171089
|
0.00001
|
NM_000466.3(PEX1):c.472+13G>A
|
rs1792887180
|
0.00001
|
NM_000466.3(PEX1):c.498T>C (p.Tyr166=)
|
rs1427788462
|
0.00001
|
NM_000466.3(PEX1):c.513T>C (p.Thr171=)
|
rs1306750859
|
0.00001
|
NM_000466.3(PEX1):c.516C>T (p.Asp172=)
|
rs776426017
|
0.00001
|
NM_000466.3(PEX1):c.579T>C (p.Asp193=)
|
rs1562866985
|
0.00001
|
NM_000466.3(PEX1):c.609A>G (p.Gly203=)
|
rs1421454418
|
0.00001
|
NM_000466.3(PEX1):c.651A>G (p.Gln217=)
|
rs1476909174
|
0.00001
|
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
|
rs1463386429
|
0.00001
|
NM_000466.3(PEX1):c.789A>T (p.Thr263=)
|
rs564163221
|
0.00001
|
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)
|
rs780119112
|
0.00001
|
NM_000466.3(PEX1):c.831G>A (p.Gln277=)
|
rs1210178752
|
0.00001
|
NM_000466.3(PEX1):c.834A>T (p.Ser278=)
|
rs1477748762
|
0.00001
|
NM_000466.3(PEX1):c.862A>C (p.Arg288=)
|
rs754695892
|
0.00001
|
NM_000466.3(PEX1):c.867A>G (p.Val289=)
|
rs1357434321
|
0.00001
|
NM_000466.3(PEX1):c.879A>G (p.Gln293=)
|
rs989737484
|
0.00001
|
NM_000466.3(PEX1):c.87C>T (p.Leu29=)
|
rs1348692744
|
0.00001
|
NM_000466.3(PEX1):c.894T>C (p.Tyr298=)
|
rs1792856461
|
0.00001
|
NM_000466.3(PEX1):c.900G>A (p.Ala300=)
|
rs372013709
|
0.00001
|
NM_001127649.3(PEX26):c.105G>A (p.Val35=)
|
rs1002922692
|
0.00001
|
NM_001127649.3(PEX26):c.145C>T (p.Leu49=)
|
rs1308033481
|
0.00001
|
NM_001127649.3(PEX26):c.231-15T>G
|
rs768299342
|
0.00001
|
NM_001127649.3(PEX26):c.243G>T (p.Val81=)
|
rs772417180
|
0.00001
|
NM_001127649.3(PEX26):c.30C>T (p.Ala10=)
|
rs774393110
|
0.00001
|
NM_001127649.3(PEX26):c.312C>T (p.Ser104=)
|
rs1926484707
|
0.00001
|
NM_001127649.3(PEX26):c.371+8T>G
|
rs778162874
|
0.00001
|
NM_001127649.3(PEX26):c.39G>A (p.Arg13=)
|
rs753275056
|
0.00001
|
NM_001127649.3(PEX26):c.489C>T (p.His163=)
|
rs549426563
|
0.00001
|
NM_001127649.3(PEX26):c.48G>T (p.Gly16=)
|
rs764244307
|
0.00001
|
NM_001127649.3(PEX26):c.540A>G (p.Leu180=)
|
rs374381444
|
0.00001
|
NM_001127649.3(PEX26):c.667+20C>T
|
rs754430783
|
0.00001
|
NM_001127649.3(PEX26):c.668-20T>C
|
rs747670268
|
0.00001
|
NM_001127649.3(PEX26):c.669C>A (p.Gly223=)
|
rs398124339
|
0.00001
|
NM_001127649.3(PEX26):c.815-10T>G
|
rs794727805
|
0.00001
|
NM_001127649.3(PEX26):c.99G>A (p.Pro33=)
|
rs1284941471
|
0.00001
|
NM_001351132.2(PEX5):c.1059T>C (p.Asn353=)
|
rs775565970
|
0.00001
|
NM_001351132.2(PEX5):c.1110+18C>T
|
rs375982509
|
0.00001
|
NM_001351132.2(PEX5):c.1110+20C>T
|
rs1163912133
|
0.00001
|
NM_001351132.2(PEX5):c.1119G>A (p.Gln373=)
|
rs369840046
|
0.00001
|
NM_001351132.2(PEX5):c.1134C>A (p.Thr378=)
|
rs142895892
|
0.00001
|
NM_001351132.2(PEX5):c.114C>T (p.Gly38=)
|
rs1275188316
|
0.00001
|
NM_001351132.2(PEX5):c.1182-13C>T
|
rs767049899
|
0.00001
|
NM_001351132.2(PEX5):c.1288C>T (p.Leu430=)
|
rs1399663676
|
0.00001
|
NM_001351132.2(PEX5):c.1293G>A (p.Arg431=)
|
rs1242502801
|
0.00001
|
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=)
|
rs778715159
|
0.00001
|
NM_001351132.2(PEX5):c.1394+13G>A
|
rs766780389
|
0.00001
|
NM_001351132.2(PEX5):c.1394+15T>C
|
rs1439543112
|
0.00001
|
NM_001351132.2(PEX5):c.1464T>C (p.Pro488=)
|
rs1308021155
|
0.00001
|
NM_001351132.2(PEX5):c.148-18T>G
|
rs1208254383
|
0.00001
|
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=)
|
rs762815657
|
0.00001
|
NM_001351132.2(PEX5):c.1560+12G>A
|
rs375427005
|
0.00001
|
NM_001351132.2(PEX5):c.1560+19T>A
|
rs772671180
|
0.00001
|
NM_001351132.2(PEX5):c.1644C>T (p.Ala548=)
|
rs920189030
|
0.00001
|
NM_001351132.2(PEX5):c.1665T>C (p.Tyr555=)
|
rs781643068
|
0.00001
|
NM_001351132.2(PEX5):c.1737T>C (p.Phe579=)
|
rs753159772
|
0.00001
|
NM_001351132.2(PEX5):c.1752C>T (p.Asn584=)
|
rs1165878236
|
0.00001
|
NM_001351132.2(PEX5):c.1806C>T (p.Asn602=)
|
rs1414114941
|
0.00001
|
NM_001351132.2(PEX5):c.183+13G>C
|
rs1466902104
|
0.00001
|
NM_001351132.2(PEX5):c.183+15C>T
|
rs1044102845
|
0.00001
|
NM_001351132.2(PEX5):c.1851C>T (p.Ser617=)
|
rs755085818
|
0.00001
|
NM_001351132.2(PEX5):c.216A>G (p.Ala72=)
|
rs1941051265
|
0.00001
|
NM_001351132.2(PEX5):c.228C>T (p.Ser76=)
|
rs968979207
|
0.00001
|
NM_001351132.2(PEX5):c.316+15T>C
|
rs755789392
|
0.00001
|
NM_001351132.2(PEX5):c.345T>C (p.Ser115=)
|
rs1326887485
|
0.00001
|
NM_001351132.2(PEX5):c.449-10C>T
|
rs749619215
|
0.00001
|
NM_001351132.2(PEX5):c.449-17T>C
|
rs1231533366
|
0.00001
|
NM_001351132.2(PEX5):c.551+9A>G
|
rs1163805891
|
0.00001
|
NM_001351132.2(PEX5):c.552-8C>T
|
rs766250063
|
0.00001
|
NM_001351132.2(PEX5):c.552-9C>A
|
rs762893506
|
0.00001
|
NM_001351132.2(PEX5):c.663G>A (p.Gln221=)
|
rs886043565
|
0.00001
|
NM_001351132.2(PEX5):c.681G>A (p.Val227=)
|
rs763452261
|
0.00001
|
NM_001351132.2(PEX5):c.684C>T (p.Ser228=)
|
rs1234954632
|
0.00001
|
NM_001351132.2(PEX5):c.753+13C>T
|
rs747606192
|
0.00001
|
NM_001351132.2(PEX5):c.801A>G (p.Thr267=)
|
rs1243197291
|
0.00001
|
NM_001351132.2(PEX5):c.81C>T (p.Asp27=)
|
rs398123572
|
0.00001
|
NM_001351132.2(PEX5):c.966+9A>G
|
rs1389020583
|
0.00001
|
NM_001351132.2(PEX5):c.990C>T (p.Asn330=)
|
rs781775833
|
0.00001
|
NM_001351132.2(PEX5):c.99G>A (p.Glu33=)
|
rs753239589
|
0.00001
|
NM_002617.4(PEX10):c.112+11G>T
|
rs1322541651
|
0.00001
|
NM_002617.4(PEX10):c.112+15C>A
|
rs1028590508
|
0.00001
|
NM_002617.4(PEX10):c.112+16G>A
|
rs755971878
|
0.00001
|
NM_002617.4(PEX10):c.114T>G (p.Gly38=)
|
rs1365540789
|
0.00001
|
NM_002617.4(PEX10):c.123G>A (p.Lys41=)
|
rs541080552
|
0.00001
|
NM_002617.4(PEX10):c.138G>A (p.Arg46=)
|
rs752243854
|
0.00001
|
NM_002617.4(PEX10):c.151C>T (p.Leu51=)
|
rs1643147523
|
0.00001
|
NM_002617.4(PEX10):c.159A>G (p.Ser53=)
|
rs771349796
|
0.00001
|
NM_002617.4(PEX10):c.15C>T (p.Ala5=)
|
rs965470939
|
0.00001
|
NM_002617.4(PEX10):c.168C>T (p.Ala56=)
|
rs1343351949
|
0.00001
|
NM_002617.4(PEX10):c.180C>T (p.Leu60=)
|
rs145668796
|
0.00001
|
NM_002617.4(PEX10):c.194-13C>T
|
rs887880476
|
0.00001
|
NM_002617.4(PEX10):c.194-4G>A
|
rs778931694
|
0.00001
|
NM_002617.4(PEX10):c.194-5C>T
|
rs375032738
|
0.00001
|
NM_002617.4(PEX10):c.205C>T (p.Leu69=)
|
rs1449501202
|
0.00001
|
NM_002617.4(PEX10):c.246G>A (p.Ser82=)
|
rs370810788
|
0.00001
|
NM_002617.4(PEX10):c.300C>T (p.Ala100=)
|
rs759667036
|
0.00001
|
NM_002617.4(PEX10):c.333C>A (p.Leu111=)
|
rs781710848
|
0.00001
|
NM_002617.4(PEX10):c.351G>A (p.Leu117=)
|
rs758743429
|
0.00001
|
NM_002617.4(PEX10):c.372G>A (p.Gly124=)
|
rs766506813
|
0.00001
|
NM_002617.4(PEX10):c.378C>G (p.Pro126=)
|
rs762783424
|
0.00001
|
NM_002617.4(PEX10):c.417A>G (p.Ser139=)
|
rs780687424
|
0.00001
|
NM_002617.4(PEX10):c.438T>C (p.Arg146=)
|
rs1323790624
|
0.00001
|
NM_002617.4(PEX10):c.498C>T (p.Val166=)
|
rs759306542
|
0.00001
|
NM_002617.4(PEX10):c.528G>C (p.Arg176=)
|
rs1321961893
|
0.00001
|
NM_002617.4(PEX10):c.600+13C>T
|
rs375803322
|
0.00001
|
NM_002617.4(PEX10):c.600+19G>A
|
rs776004824
|
0.00001
|
NM_002617.4(PEX10):c.601-13A>G
|
rs1443291426
|
0.00001
|
NM_002617.4(PEX10):c.601-30C>T
|
rs776096476
|
0.00001
|
NM_002617.4(PEX10):c.601-52G>A
|
rs763636557
|
0.00001
|
NM_002617.4(PEX10):c.636G>A (p.Arg212=)
|
rs1236839010
|
0.00001
|
NM_002617.4(PEX10):c.663G>A (p.Gly221=)
|
rs1292668207
|
0.00001
|
NM_002617.4(PEX10):c.690G>A (p.Leu230=)
|
rs755446919
|
0.00001
|
NM_002617.4(PEX10):c.776+12G>T
|
rs940264722
|
0.00001
|
NM_002617.4(PEX10):c.776+9G>A
|
rs528387404
|
0.00001
|
NM_002617.4(PEX10):c.798C>T (p.Ala266=)
|
rs746394182
|
0.00001
|
NM_002617.4(PEX10):c.823C>T (p.Leu275=)
|
rs752928632
|
0.00001
|
NM_002617.4(PEX10):c.834G>A (p.Glu278=)
|
rs542788558
|
0.00001
|
NM_002617.4(PEX10):c.84G>A (p.Ala28=)
|
rs1425799977
|
0.00001
|
NM_002617.4(PEX10):c.855C>A (p.Ala285=)
|
rs1171635215
|
0.00001
|
NM_002617.4(PEX10):c.858G>A (p.Thr286=)
|
rs374678390
|
0.00001
|
NM_002617.4(PEX10):c.861C>T (p.Pro287=)
|
rs1417688558
|
0.00001
|
NM_002617.4(PEX10):c.888C>T (p.Cys296=)
|
rs1338124684
|
0.00001
|
NM_002617.4(PEX10):c.897G>A (p.Ala299=)
|
rs372779905
|
0.00001
|
NM_002617.4(PEX10):c.912+13C>G
|
rs753953758
|
0.00001
|
NM_002617.4(PEX10):c.913-15T>C
|
rs1553231615
|
0.00001
|
NM_002617.4(PEX10):c.913-16T>C
|
rs374203579
|
0.00001
|
NM_002617.4(PEX10):c.913-17_913-16del
|
rs764894972
|
0.00001
|
NM_002617.4(PEX10):c.913-5C>T
|
rs756094275
|
0.00001
|
NM_002617.4(PEX10):c.918G>A (p.Glu306=)
|
rs1316677222
|
0.00001
|
NM_002617.4(PEX10):c.924C>A (p.Pro308=)
|
rs1375703281
|
0.00001
|
NM_002617.4(PEX10):c.93C>G (p.Gly31=)
|
rs1027184356
|
0.00001
|
NM_002617.4(PEX10):c.963C>T (p.Tyr321=)
|
rs780114946
|
0.00001
|
NM_002617.4(PEX10):c.97C>T (p.Leu33=)
|
rs994343573
|
0.00001
|
NM_002617.4(PEX10):c.980G>A (p.Ter327=)
|
rs1432462972
|
0.00001
|
NM_002618.4(PEX13):c.1011A>G (p.Arg337=)
|
rs779659827
|
0.00001
|
NM_002618.4(PEX13):c.1014A>G (p.Lys338=)
|
rs748712609
|
0.00001
|
NM_002618.4(PEX13):c.1059A>G (p.Gln353=)
|
rs892266553
|
0.00001
|
NM_002618.4(PEX13):c.1095G>A (p.Thr365=)
|
rs754460647
|
0.00001
|
NM_002618.4(PEX13):c.1158G>A (p.Lys386=)
|
rs371789976
|
0.00001
|
NM_002618.4(PEX13):c.276C>T (p.Gly92=)
|
rs770117657
|
0.00001
|
NM_002618.4(PEX13):c.307C>T (p.Leu103=)
|
rs767987790
|
0.00001
|
NM_002618.4(PEX13):c.381G>A (p.Arg127=)
|
rs772627459
|
0.00001
|
NM_002618.4(PEX13):c.450C>T (p.Thr150=)
|
rs1228236816
|
0.00001
|
NM_002618.4(PEX13):c.534G>T (p.Val178=)
|
rs1162525817
|
0.00001
|
NM_002618.4(PEX13):c.66G>A (p.Pro22=)
|
rs1264694420
|
0.00001
|
NM_002618.4(PEX13):c.762G>A (p.Leu254=)
|
rs1282121871
|
0.00001
|
NM_002618.4(PEX13):c.777T>C (p.Asp259=)
|
rs781350418
|
0.00001
|
NM_002618.4(PEX13):c.788-8G>A
|
rs1680695333
|
0.00001
|
NM_002618.4(PEX13):c.831C>T (p.Ala277=)
|
rs751807871
|
0.00001
|
NM_002618.4(PEX13):c.914-8T>G
|
rs769302153
|
0.00001
|
NM_002618.4(PEX13):c.999T>C (p.Ile333=)
|
rs750110664
|
0.00001
|
NM_002857.4(PEX19):c.129G>A (p.Thr43=)
|
rs921113258
|
0.00001
|
NM_002857.4(PEX19):c.12T>C (p.Ala4=)
|
rs1657962000
|
0.00001
|
NM_002857.4(PEX19):c.180+13C>A
|
rs1420876010
|
0.00001
|
NM_002857.4(PEX19):c.198C>T (p.Ser66=)
|
rs1332354119
|
0.00001
|
NM_002857.4(PEX19):c.249C>T (p.Ala83=)
|
rs1359237654
|
0.00001
|
NM_002857.4(PEX19):c.366A>G (p.Gln122=)
|
rs930041404
|
0.00001
|
NM_002857.4(PEX19):c.397C>T (p.Leu133=)
|
rs146321212
|
0.00001
|
NM_002857.4(PEX19):c.433-6A>G
|
rs775148442
|
0.00001
|
NM_002857.4(PEX19):c.489C>T (p.Asp163=)
|
rs765686168
|
0.00001
|
NM_002857.4(PEX19):c.552C>T (p.Ser184=)
|
rs1399277810
|
0.00001
|
NM_002857.4(PEX19):c.595-12C>T
|
rs907000189
|
0.00001
|
NM_002857.4(PEX19):c.595-18C>G
|
rs371272792
|
0.00001
|
NM_002857.4(PEX19):c.735G>A (p.Lys245=)
|
rs749331745
|
0.00001
|
NM_002857.4(PEX19):c.816+7A>G
|
rs776784191
|
0.00001
|
NM_002857.4(PEX19):c.867A>G (p.Pro289=)
|
rs1657686642
|
0.00001
|
NM_004565.3(PEX14):c.1056C>T (p.Gly352=)
|
rs372035480
|
0.00001
|
NM_004565.3(PEX14):c.12G>A (p.Ser4=)
|
rs1372422981
|
0.00001
|
NM_004565.3(PEX14):c.234G>A (p.Ser78=)
|
rs778634623
|
0.00001
|
NM_004565.3(PEX14):c.294A>G (p.Pro98=)
|
rs1459322335
|
0.00001
|
NM_004565.3(PEX14):c.30G>C (p.Pro10=)
|
rs1307415913
|
0.00001
|
NM_004565.3(PEX14):c.37-14A>G
|
rs757529825
|
0.00001
|
NM_004565.3(PEX14):c.37-18T>C
|
rs1219479331
|
0.00001
|
NM_004565.3(PEX14):c.384+12C>T
|
rs1031904195
|
0.00001
|
NM_004565.3(PEX14):c.384+9C>T
|
rs780394337
|
0.00001
|
NM_004565.3(PEX14):c.385-19C>T
|
rs1355559186
|
0.00001
|
NM_004565.3(PEX14):c.411C>T (p.Gly137=)
|
rs775297789
|
0.00001
|
NM_004565.3(PEX14):c.450C>T (p.Ala150=)
|
rs765794942
|
0.00001
|
NM_004565.3(PEX14):c.487+11A>T
|
rs745344543
|
0.00001
|
NM_004565.3(PEX14):c.488-22_488-20del
|
rs1193800404
|
0.00001
|
NM_004565.3(PEX14):c.507C>T (p.Thr169=)
|
rs374000675
|
0.00001
|
NM_004565.3(PEX14):c.510C>T (p.Leu170=)
|
rs1319304159
|
0.00001
|
NM_004565.3(PEX14):c.531G>C (p.Leu177=)
|
rs1641685652
|
0.00001
|
NM_004565.3(PEX14):c.576C>T (p.Ala192=)
|
rs377059083
|
0.00001
|
NM_004565.3(PEX14):c.677+11G>A
|
rs1472595799
|
0.00001
|
NM_004565.3(PEX14):c.708G>A (p.Pro236=)
|
rs776806278
|
0.00001
|
NM_004565.3(PEX14):c.816G>A (p.Thr272=)
|
rs572028093
|
0.00001
|
NM_004565.3(PEX14):c.900G>A (p.Glu300=)
|
rs772095912
|
0.00001
|
NM_004565.3(PEX14):c.912C>T (p.Asp304=)
|
rs1202283239
|
0.00001
|
NM_004565.3(PEX14):c.981G>A (p.Glu327=)
|
rs41274486
|
0.00001
|
NM_004813.4(PEX16):c.112+18G>C
|
rs2086852660
|
0.00001
|
NM_004813.4(PEX16):c.148+7C>T
|
rs1001236613
|
0.00001
|
NM_004813.4(PEX16):c.149-20G>A
|
rs746963607
|
0.00001
|
NM_004813.4(PEX16):c.165C>T (p.Asn55=)
|
rs746381331
|
0.00001
|
NM_004813.4(PEX16):c.226-12G>A
|
rs770166678
|
0.00001
|
NM_004813.4(PEX16):c.360-5C>A
|
rs748034237
|
0.00001
|
NM_004813.4(PEX16):c.360-8C>T
|
rs1285530111
|
0.00001
|
NM_004813.4(PEX16):c.42C>T (p.Tyr14=)
|
rs376366140
|
0.00001
|
NM_004813.4(PEX16):c.444C>G (p.Thr148=)
|
rs1278944049
|
0.00001
|
NM_004813.4(PEX16):c.460+20C>A
|
rs749438800
|
0.00001
|
NM_004813.4(PEX16):c.498C>T (p.Tyr166=)
|
rs918637787
|
0.00001
|
NM_004813.4(PEX16):c.542-4C>G
|
rs755666423
|
0.00001
|
NM_004813.4(PEX16):c.612G>A (p.Glu204=)
|
rs758739455
|
0.00001
|
NM_004813.4(PEX16):c.624G>A (p.Ala208=)
|
rs1198584811
|
0.00001
|
NM_004813.4(PEX16):c.633C>T (p.Thr211=)
|
rs1320072269
|
0.00001
|
NM_004813.4(PEX16):c.675T>A (p.Ile225=)
|
rs757682196
|
0.00001
|
NM_004813.4(PEX16):c.684G>A (p.Pro228=)
|
rs777904359
|
0.00001
|
NM_004813.4(PEX16):c.711G>A (p.Leu237=)
|
rs763743599
|
0.00001
|
NM_004813.4(PEX16):c.888-18A>C
|
rs779536979
|
0.00001
|
NM_004813.4(PEX16):c.930C>T (p.Val310=)
|
rs766416680
|
0.00001
|
NM_004813.4(PEX16):c.952+20C>T
|
rs781618336
|
0.00001
|
NM_004813.4(PEX16):c.996C>T (p.Phe332=)
|
rs200546977
|
0.00001
|
NM_000286.3(PEX12):c.*550_*552del
|
rs147182821
|
|
NM_000286.3(PEX12):c.*569_*570del
|
rs3031851
|
|
NM_000286.3(PEX12):c.1008C>T (p.His336=)
|
|
|
NM_000286.3(PEX12):c.1020C>T (p.Pro340=)
|
|
|
NM_000286.3(PEX12):c.1032T>C (p.Tyr344=)
|
rs1352783754
|
|
NM_000286.3(PEX12):c.1038A>G (p.Thr346=)
|
|
|
NM_000286.3(PEX12):c.1051C>T (p.Leu351=)
|
|
|
NM_000286.3(PEX12):c.105C>T (p.Pro35=)
|
|
|
NM_000286.3(PEX12):c.1065C>T (p.Tyr355=)
|
|
|
NM_000286.3(PEX12):c.126+17T>C
|
|
|
NM_000286.3(PEX12):c.126+18G>A
|
|
|
NM_000286.3(PEX12):c.127-11_127-2del
|
rs779094557
|
|
NM_000286.3(PEX12):c.127-20A>T
|
|
|
NM_000286.3(PEX12):c.127-6C>T
|
|
|
NM_000286.3(PEX12):c.127-7G>T
|
|
|
NM_000286.3(PEX12):c.138A>G (p.Glu46=)
|
|
|
NM_000286.3(PEX12):c.150C>A (p.Thr50=)
|
rs2142231241
|
|
NM_000286.3(PEX12):c.163T>C (p.Leu55=)
|
|
|
NM_000286.3(PEX12):c.186C>T (p.Ile62=)
|
rs1243883362
|
|
NM_000286.3(PEX12):c.18T>C (p.Ala6=)
|
rs2142231767
|
|
NM_000286.3(PEX12):c.192T>C (p.Thr64=)
|
rs2072793963
|
|
NM_000286.3(PEX12):c.193C>T (p.Leu65=)
|
rs923069079
|
|
NM_000286.3(PEX12):c.207G>T (p.Leu69=)
|
|
|
NM_000286.3(PEX12):c.210C>G (p.Leu70=)
|
rs2142231132
|
|
NM_000286.3(PEX12):c.223C>T (p.Leu75=)
|
rs2072793560
|
|
NM_000286.3(PEX12):c.225G>A (p.Leu75=)
|
rs1353291478
|
|
NM_000286.3(PEX12):c.255C>T (p.Asn85=)
|
|
|
NM_000286.3(PEX12):c.258T>C (p.Phe86=)
|
|
|
NM_000286.3(PEX12):c.271A>C (p.Arg91=)
|
rs2072792820
|
|
NM_000286.3(PEX12):c.273A>G (p.Arg91=)
|
|
|
NM_000286.3(PEX12):c.27A>G (p.Thr9=)
|
|
|
NM_000286.3(PEX12):c.288C>T (p.Asp96=)
|
rs2072792666
|
|
NM_000286.3(PEX12):c.291T>C (p.Thr97=)
|
rs756033737
|
|
NM_000286.3(PEX12):c.291T>G (p.Thr97=)
|
|
|
NM_000286.3(PEX12):c.30T>C (p.Ala10=)
|
|
|
NM_000286.3(PEX12):c.315T>C (p.Ser105=)
|
rs1597923365
|
|
NM_000286.3(PEX12):c.321T>C (p.Gly107=)
|
|
|
NM_000286.3(PEX12):c.324C>T (p.Leu108=)
|
|
|
NM_000286.3(PEX12):c.33T>C (p.Ala11=)
|
|
|
NM_000286.3(PEX12):c.348T>C (p.Ser116=)
|
rs2142230874
|
|
NM_000286.3(PEX12):c.351T>C (p.Ile117=)
|
rs2142230866
|
|
NM_000286.3(PEX12):c.360G>C (p.Leu120=)
|
rs772417571
|
|
NM_000286.3(PEX12):c.372C>G (p.Pro124=)
|
|
|
NM_000286.3(PEX12):c.375T>C (p.Tyr125=)
|
rs1451972501
|
|
NM_000286.3(PEX12):c.396G>A (p.Lys132=)
|
rs2142230806
|
|
NM_000286.3(PEX12):c.399G>T (p.Leu133=)
|
|
|
NM_000286.3(PEX12):c.408C>T (p.Ser136=)
|
rs1198655195
|
|
NM_000286.3(PEX12):c.414A>G (p.Arg138=)
|
|
|
NM_000286.3(PEX12):c.42C>G (p.Ala14=)
|
rs1397167479
|
|
NM_000286.3(PEX12):c.462A>G (p.Arg154=)
|
|
|
NM_000286.3(PEX12):c.474T>C (p.Ala158=)
|
rs2072790859
|
|
NM_000286.3(PEX12):c.483A>G (p.Ala161=)
|
|
|
NM_000286.3(PEX12):c.486C>T (p.Ala162=)
|
|
|
NM_000286.3(PEX12):c.492A>G (p.Pro164=)
|
rs2142230631
|
|
NM_000286.3(PEX12):c.495T>C (p.Phe165=)
|
rs2142230624
|
|
NM_000286.3(PEX12):c.498G>A (p.Val166=)
|
|
|
NM_000286.3(PEX12):c.51G>A (p.Gln17=)
|
rs561976188
|
|
NM_000286.3(PEX12):c.547C>T (p.Leu183=)
|
rs1230959859
|
|
NM_000286.3(PEX12):c.54A>G (p.Pro18=)
|
|
|
NM_000286.3(PEX12):c.564T>C (p.His188=)
|
|
|
NM_000286.3(PEX12):c.573A>G (p.Pro191=)
|
|
|
NM_000286.3(PEX12):c.574C>T (p.Leu192=)
|
rs2142230532
|
|
NM_000286.3(PEX12):c.582G>A (p.Arg194=)
|
rs2072790006
|
|
NM_000286.3(PEX12):c.583C>T (p.Leu195=)
|
|
|
NM_000286.3(PEX12):c.60C>T (p.Ile20=)
|
rs2142231683
|
|
NM_000286.3(PEX12):c.624A>T (p.Ile208=)
|
|
|
NM_000286.3(PEX12):c.633G>A (p.Leu211=)
|
|
|
NM_000286.3(PEX12):c.645A>G (p.Pro215=)
|
rs2142230422
|
|
NM_000286.3(PEX12):c.669A>G (p.Gln223=)
|
rs776230088
|
|
NM_000286.3(PEX12):c.66G>A (p.Glu22=)
|
|
|
NM_000286.3(PEX12):c.675C>T (p.Ala225=)
|
|
|
NM_000286.3(PEX12):c.680+10T>C
|
rs2142230380
|
|
NM_000286.3(PEX12):c.680+11A>G
|
|
|
NM_000286.3(PEX12):c.680+12A>T
|
|
|
NM_000286.3(PEX12):c.680+18C>T
|
rs2142230370
|
|
NM_000286.3(PEX12):c.680+19C>T
|
|
|
NM_000286.3(PEX12):c.680+8C>T
|
|
|
NM_000286.3(PEX12):c.681-15_681-13del
|
|
|
NM_000286.3(PEX12):c.681-21_681-19del
|
rs2142229430
|
|
NM_000286.3(PEX12):c.681-5A>C
|
|
|
NM_000286.3(PEX12):c.684T>C (p.Val228=)
|
|
|
NM_000286.3(PEX12):c.693G>A (p.Lys231=)
|
|
|
NM_000286.3(PEX12):c.699C>T (p.Asn233=)
|
rs2142229355
|
|
NM_000286.3(PEX12):c.69G>A (p.Val23=)
|
|
|
NM_000286.3(PEX12):c.6T>C (p.Ala2=)
|
rs2142231791
|
|
NM_000286.3(PEX12):c.705T>C (p.Ala235=)
|
rs2072784066
|
|
NM_000286.3(PEX12):c.706C>T (p.Leu236=)
|
rs2142229341
|
|
NM_000286.3(PEX12):c.714A>G (p.Lys238=)
|
rs2142229321
|
|
NM_000286.3(PEX12):c.723G>A (p.Gly241=)
|
|
|
NM_000286.3(PEX12):c.744T>C (p.Ser248=)
|
|
|
NM_000286.3(PEX12):c.765A>G (p.Val255=)
|
rs1438298273
|
|
NM_000286.3(PEX12):c.777G>A (p.Gln259=)
|
rs1317256470
|
|
NM_000286.3(PEX12):c.783T>C (p.Leu261=)
|
rs1192515379
|
|
NM_000286.3(PEX12):c.795C>T (p.Tyr265=)
|
rs1429126106
|
|
NM_000286.3(PEX12):c.804A>G (p.Glu268=)
|
|
|
NM_000286.3(PEX12):c.816C>G (p.Thr272=)
|
|
|
NM_000286.3(PEX12):c.819C>T (p.Ile273=)
|
|
|
NM_000286.3(PEX12):c.846A>G (p.Pro282=)
|
|
|
NM_000286.3(PEX12):c.849A>G (p.Pro283=)
|
rs1597922401
|
|
NM_000286.3(PEX12):c.861C>T (p.His287=)
|
rs2072782684
|
|
NM_000286.3(PEX12):c.864A>G (p.Leu288=)
|
rs2142229051
|
|
NM_000286.3(PEX12):c.885C>T (p.Pro295=)
|
rs2142229017
|
|
NM_000286.3(PEX12):c.888C>G (p.Leu296=)
|
rs2142229002
|
|
NM_000286.3(PEX12):c.888C>T (p.Leu296=)
|
rs2142229002
|
|
NM_000286.3(PEX12):c.906T>C (p.Thr302=)
|
rs371277434
|
|
NM_000286.3(PEX12):c.912C>T (p.Cys304=)
|
rs772194164
|
|
NM_000286.3(PEX12):c.915A>C (p.Pro305=)
|
|
|
NM_000286.3(PEX12):c.921T>C (p.Cys307=)
|
|
|
NM_000286.3(PEX12):c.936G>A (p.Val312=)
|
rs2142228901
|
|
NM_000286.3(PEX12):c.936G>T (p.Val312=)
|
|
|
NM_000286.3(PEX12):c.939T>C (p.Asn313=)
|
|
|
NM_000286.3(PEX12):c.93A>C (p.Thr31=)
|
rs141198490
|
|
NM_000286.3(PEX12):c.945T>A (p.Thr315=)
|
|
|
NM_000286.3(PEX12):c.957C>G (p.Thr319=)
|
|
|
NM_000286.3(PEX12):c.963C>G (p.Gly321=)
|
|
|
NM_000286.3(PEX12):c.966T>C (p.Tyr322=)
|
|
|
NM_000286.3(PEX12):c.969G>A (p.Val323=)
|
rs2142228848
|
|
NM_000286.3(PEX12):c.972T>C (p.Phe324=)
|
|
|
NM_000286.3(PEX12):c.978C>T (p.Tyr326=)
|
|
|
NM_000286.3(PEX12):c.987G>A (p.Val329=)
|
|
|
NM_000286.3(PEX12):c.9G>A (p.Glu3=)
|
rs2072797963
|
|
NM_000287.4(PEX6):c.100C>T (p.Leu34=)
|
rs2150240766
|
|
NM_000287.4(PEX6):c.1011T>C (p.Tyr337=)
|
|
|
NM_000287.4(PEX6):c.1017T>C (p.Gly339=)
|
rs2150235982
|
|
NM_000287.4(PEX6):c.1029G>A (p.Arg343=)
|
|
|
NM_000287.4(PEX6):c.1044C>G (p.Pro348=)
|
|
|
NM_000287.4(PEX6):c.1046+14C>T
|
|
|
NM_000287.4(PEX6):c.1046+15C>A
|
|
|
NM_000287.4(PEX6):c.1046+15C>T
|
rs778415507
|
|
NM_000287.4(PEX6):c.1046+16T>A
|
|
|
NM_000287.4(PEX6):c.1046+19T>C
|
|
|
NM_000287.4(PEX6):c.1046+20A>T
|
|
|
NM_000287.4(PEX6):c.1046+3_1046+7dup
|
|
|
NM_000287.4(PEX6):c.1047-17C>T
|
|
|
NM_000287.4(PEX6):c.1047-4G>A
|
|
|
NM_000287.4(PEX6):c.1047-7G>A
|
rs768222448
|
|
NM_000287.4(PEX6):c.1050A>C (p.Val350=)
|
rs2150234993
|
|
NM_000287.4(PEX6):c.1053C>G (p.Val351=)
|
rs2150234991
|
|
NM_000287.4(PEX6):c.105C>T (p.Gly35=)
|
|
|
NM_000287.4(PEX6):c.1062G>A (p.Gly354=)
|
rs2150234981
|
|
NM_000287.4(PEX6):c.1074T>C (p.Cys358=)
|
|
|
NM_000287.4(PEX6):c.1080A>T (p.Pro360=)
|
rs2150234963
|
|
NM_000287.4(PEX6):c.1123C>T (p.Leu375=)
|
|
|
NM_000287.4(PEX6):c.1130+10T>C
|
rs2150234874
|
|
NM_000287.4(PEX6):c.1130+13C>T
|
|
|
NM_000287.4(PEX6):c.1130+18G>A
|
rs201799034
|
|
NM_000287.4(PEX6):c.1130+7A>G
|
|
|
NM_000287.4(PEX6):c.1131-10T>C
|
|
|
NM_000287.4(PEX6):c.1131-13del
|
rs2114248435
|
|
NM_000287.4(PEX6):c.1131-19T>A
|
rs761325258
|
|
NM_000287.4(PEX6):c.1131-19T>C
|
|
|
NM_000287.4(PEX6):c.1131-20A>C
|
|
|
NM_000287.4(PEX6):c.1131-20A>T
|
rs1052860167
|
|
NM_000287.4(PEX6):c.1131-8T>C
|
|
|
NM_000287.4(PEX6):c.1131-9T>C
|
rs1770006982
|
|
NM_000287.4(PEX6):c.1137G>A (p.Arg379=)
|
rs766574538
|
|
NM_000287.4(PEX6):c.1155G>A (p.Val385=)
|
|
|
NM_000287.4(PEX6):c.1155G>T (p.Val385=)
|
|
|
NM_000287.4(PEX6):c.1158G>A (p.Lys386=)
|
|
|
NM_000287.4(PEX6):c.1167T>C (p.Val389=)
|
|
|
NM_000287.4(PEX6):c.1173A>G (p.Glu391=)
|
|
|
NM_000287.4(PEX6):c.1179A>G (p.Pro393=)
|
rs2114248207
|
|
NM_000287.4(PEX6):c.1194T>C (p.Ser398=)
|
rs762820334
|
|
NM_000287.4(PEX6):c.1203G>A (p.Leu401=)
|
|
|
NM_000287.4(PEX6):c.1209C>T (p.Asp403=)
|
|
|
NM_000287.4(PEX6):c.120G>A (p.Leu40=)
|
|
|
NM_000287.4(PEX6):c.1212C>A (p.Thr404=)
|
|
|
NM_000287.4(PEX6):c.1212C>G (p.Thr404=)
|
|
|
NM_000287.4(PEX6):c.1212C>T (p.Thr404=)
|
|
|
NM_000287.4(PEX6):c.1215C>A (p.Thr405=)
|
|
|
NM_000287.4(PEX6):c.1221C>G (p.Thr407=)
|
rs1437814393
|
|
NM_000287.4(PEX6):c.1221C>T (p.Thr407=)
|
|
|
NM_000287.4(PEX6):c.1224C>T (p.Ser408=)
|
rs2114248061
|
|
NM_000287.4(PEX6):c.1230C>T (p.Tyr410=)
|
rs1390461246
|
|
NM_000287.4(PEX6):c.1233+10C>T
|
rs2114247999
|
|
NM_000287.4(PEX6):c.1233+11A>T
|
|
|
NM_000287.4(PEX6):c.1233+12A>T
|
rs2114247994
|
|
NM_000287.4(PEX6):c.1233+14G>A
|
|
|
NM_000287.4(PEX6):c.1233+15A>G
|
|
|
NM_000287.4(PEX6):c.1233+16T>C
|
rs2114247984
|
|
NM_000287.4(PEX6):c.1233+19G>C
|
rs989072078
|
|
NM_000287.4(PEX6):c.1233+20T>A
|
|
|
NM_000287.4(PEX6):c.1233+9C>T
|
|
|
NM_000287.4(PEX6):c.1234-11A>T
|
rs201879957
|
|
NM_000287.4(PEX6):c.1234-11del
|
|
|
NM_000287.4(PEX6):c.1234-14A>G
|
|
|
NM_000287.4(PEX6):c.1234-15T>C
|
|
|
NM_000287.4(PEX6):c.1234-4A>G
|
rs2114247807
|
|
NM_000287.4(PEX6):c.1234-8T>C
|
|
|
NM_000287.4(PEX6):c.1234-8_1234-7dup
|
rs200121485
|
|
NM_000287.4(PEX6):c.1234-9C>G
|
|
|
NM_000287.4(PEX6):c.1236G>T (p.Val412=)
|
|
|
NM_000287.4(PEX6):c.1239T>G (p.Gly413=)
|
|
|
NM_000287.4(PEX6):c.123G>A (p.Arg41=)
|
rs1561831496
|
|
NM_000287.4(PEX6):c.1246C>T (p.Leu416=)
|
rs766038568
|
|
NM_000287.4(PEX6):c.1266C>T (p.Leu422=)
|
rs1260688458
|
|
NM_000287.4(PEX6):c.1287C>G (p.Leu429=)
|
rs2114247608
|
|
NM_000287.4(PEX6):c.1297T>C (p.Leu433=)
|
|
|
NM_000287.4(PEX6):c.129A>G (p.Ala43=)
|
|
|
NM_000287.4(PEX6):c.129A>T (p.Ala43=)
|
rs1445718475
|
|
NM_000287.4(PEX6):c.1302T>C (p.Ser434=)
|
|
|
NM_000287.4(PEX6):c.1305T>C (p.Pro435=)
|
rs2114247560
|
|
NM_000287.4(PEX6):c.1311C>T (p.Gly437=)
|
rs748214049
|
|
NM_000287.4(PEX6):c.1320C>T (p.Ala440=)
|
rs2114247492
|
|
NM_000287.4(PEX6):c.1329T>G (p.Ser443=)
|
|
|
NM_000287.4(PEX6):c.132G>A (p.Gly44=)
|
rs1166800127
|
|
NM_000287.4(PEX6):c.1335C>A (p.Leu445=)
|
|
|
NM_000287.4(PEX6):c.1341T>C (p.Ala447=)
|
|
|
NM_000287.4(PEX6):c.1347G>A (p.Leu449=)
|
|
|
NM_000287.4(PEX6):c.1347G>T (p.Leu449=)
|
|
|
NM_000287.4(PEX6):c.135G>A (p.Glu45=)
|
rs2150240712
|
|
NM_000287.4(PEX6):c.1367+10del
|
rs2114247320
|
|
NM_000287.4(PEX6):c.1367+12C>T
|
|
|
NM_000287.4(PEX6):c.1367+12_1367+25del
|
|
|
NM_000287.4(PEX6):c.1367+13A>C
|
|
|
NM_000287.4(PEX6):c.1367+17C>G
|
|
|
NM_000287.4(PEX6):c.1367+17C>T
|
|
|
NM_000287.4(PEX6):c.1367+18C>A
|
|
|
NM_000287.4(PEX6):c.1367+9G>T
|
|
|
NM_000287.4(PEX6):c.1368-10C>A
|
|
|
NM_000287.4(PEX6):c.1368-12C>G
|
rs1335461045
|
|
NM_000287.4(PEX6):c.1368-15G>A
|
|
|
NM_000287.4(PEX6):c.1368-20T>C
|
|
|
NM_000287.4(PEX6):c.1375C>T (p.Leu459=)
|
|
|
NM_000287.4(PEX6):c.1377G>C (p.Leu459=)
|
|
|
NM_000287.4(PEX6):c.1377G>T (p.Leu459=)
|
|
|
NM_000287.4(PEX6):c.1378C>T (p.Leu460=)
|
|
|
NM_000287.4(PEX6):c.1383A>G (p.Thr461=)
|
|
|
NM_000287.4(PEX6):c.1386A>G (p.Gly462=)
|
rs2114246091
|
|
NM_000287.4(PEX6):c.1389T>A (p.Thr463=)
|
rs2114246068
|
|
NM_000287.4(PEX6):c.1401T>A (p.Leu467=)
|
|
|
NM_000287.4(PEX6):c.1404A>G (p.Leu468=)
|
|
|
NM_000287.4(PEX6):c.1407G>A (p.Arg469=)
|
|
|
NM_000287.4(PEX6):c.1410C>A (p.Gly470=)
|
|
|
NM_000287.4(PEX6):c.1413C>T (p.Pro471=)
|
|
|
NM_000287.4(PEX6):c.141G>A (p.Pro47=)
|
rs1464923917
|
|
NM_000287.4(PEX6):c.1428G>A (p.Lys476=)
|
|
|
NM_000287.4(PEX6):c.1440T>C (p.Val480=)
|
|
|
NM_000287.4(PEX6):c.1449C>A (p.Ala483=)
|
|
|
NM_000287.4(PEX6):c.1458C>T (p.His486=)
|
|
|
NM_000287.4(PEX6):c.1464G>T (p.Gly488=)
|
rs1581764611
|
|
NM_000287.4(PEX6):c.1470C>T (p.His490=)
|
rs897608716
|
|
NM_000287.4(PEX6):c.1476G>A (p.Leu492=)
|
rs2114245819
|
|
NM_000287.4(PEX6):c.1479+10_1479+11insA
|
|
|
NM_000287.4(PEX6):c.1479+11_1479+12del
|
|
|
NM_000287.4(PEX6):c.1479+12T>C
|
|
|
NM_000287.4(PEX6):c.1479+13G>C
|
|
|
NM_000287.4(PEX6):c.1479+7G>A
|
rs528161793
|
|
NM_000287.4(PEX6):c.1479+7G>T
|
rs528161793
|
|
NM_000287.4(PEX6):c.1479+9C>A
|
|
|
NM_000287.4(PEX6):c.1480-11C>A
|
|
|
NM_000287.4(PEX6):c.1480-17T>C
|
|
|
NM_000287.4(PEX6):c.1480-4C>T
|
|
|
NM_000287.4(PEX6):c.1480-6C>T
|
|
|
NM_000287.4(PEX6):c.1480-7T>C
|
|
|
NM_000287.4(PEX6):c.1480-8C>T
|
|
|
NM_000287.4(PEX6):c.1480-9C>T
|
rs1421047167
|
|
NM_000287.4(PEX6):c.1482G>A (p.Val494=)
|
|
|
NM_000287.4(PEX6):c.1497C>T (p.Leu499=)
|
|
|
NM_000287.4(PEX6):c.1509T>C (p.Ser503=)
|
rs1268177698
|
|
NM_000287.4(PEX6):c.150G>A (p.Pro50=)
|
rs1475357223
|
|
NM_000287.4(PEX6):c.1515G>C (p.Gly505=)
|
rs1335610343
|
|
NM_000287.4(PEX6):c.1518T>C (p.Ala506=)
|
|
|
NM_000287.4(PEX6):c.1521G>A (p.Val507=)
|
|
|
NM_000287.4(PEX6):c.1524G>A (p.Glu508=)
|
|
|
NM_000287.4(PEX6):c.1536G>A (p.Gln512=)
|
|
|
NM_000287.4(PEX6):c.1539C>T (p.Ala513=)
|
|
|
NM_000287.4(PEX6):c.153G>A (p.Ala51=)
|
rs1179672531
|
|
NM_000287.4(PEX6):c.1548C>T (p.Ser516=)
|
rs2114244957
|
|
NM_000287.4(PEX6):c.1551G>A (p.Arg517=)
|
|
|
NM_000287.4(PEX6):c.1551G>C (p.Arg517=)
|
rs766045376
|
|
NM_000287.4(PEX6):c.1551G>T (p.Arg517=)
|
rs766045376
|
|
NM_000287.4(PEX6):c.1557C>T (p.Arg519=)
|
|
|
NM_000287.4(PEX6):c.1566G>C (p.Arg522=)
|
|
|
NM_000287.4(PEX6):c.1566G>T (p.Arg522=)
|
rs950336722
|
|
NM_000287.4(PEX6):c.1587A>G (p.Thr529=)
|
|
|
NM_000287.4(PEX6):c.159G>A (p.Leu53=)
|
rs2150240669
|
|
NM_000287.4(PEX6):c.159G>T (p.Leu53=)
|
rs2150240669
|
|
NM_000287.4(PEX6):c.1620G>A (p.Gly540=)
|
rs2114244710
|
|
NM_000287.4(PEX6):c.1632T>C (p.Asp544=)
|
|
|
NM_000287.4(PEX6):c.1638T>C (p.Arg546=)
|
rs1769922737
|
|
NM_000287.4(PEX6):c.1638T>G (p.Arg546=)
|
|
|
NM_000287.4(PEX6):c.1665C>T (p.Leu555=)
|
rs777182627
|
|
NM_000287.4(PEX6):c.1668C>A (p.Leu556=)
|
|
|
NM_000287.4(PEX6):c.1674G>A (p.Glu558=)
|
|
|
NM_000287.4(PEX6):c.1677C>T (p.Asp559=)
|
|
|
NM_000287.4(PEX6):c.1683C>T (p.Leu561=)
|
|
|
NM_000287.4(PEX6):c.1686C>T (p.Asn562=)
|
|
|
NM_000287.4(PEX6):c.1688+11A>T
|
|
|
NM_000287.4(PEX6):c.1688+20C>T
|
rs2114244389
|
|
NM_000287.4(PEX6):c.1688+8T>C
|
rs2114244420
|
|
NM_000287.4(PEX6):c.1689-10C>G
|
|
|
NM_000287.4(PEX6):c.1689-12C>T
|
|
|
NM_000287.4(PEX6):c.1689-16A>G
|
|
|
NM_000287.4(PEX6):c.1689-17C>G
|
|
|
NM_000287.4(PEX6):c.1689-18C>T
|
|
|
NM_000287.4(PEX6):c.1689-20G>A
|
|
|
NM_000287.4(PEX6):c.1689-8G>T
|
rs2114242954
|
|
NM_000287.4(PEX6):c.1692C>T (p.Cys564=)
|
rs1385474057
|
|
NM_000287.4(PEX6):c.1698C>T (p.Pro566=)
|
rs745479170
|
|
NM_000287.4(PEX6):c.16T>C (p.Leu6=)
|
|
|
NM_000287.4(PEX6):c.1716C>A (p.Thr572=)
|
rs2114242807
|
|
NM_000287.4(PEX6):c.1719A>T (p.Thr573=)
|
|
|
NM_000287.4(PEX6):c.171G>A (p.Leu57=)
|
rs1233980145
|
|
NM_000287.4(PEX6):c.171G>C (p.Leu57=)
|
rs1233980145
|
|
NM_000287.4(PEX6):c.1723C>A (p.Arg575=)
|
rs755211783
|
|
NM_000287.4(PEX6):c.1734C>T (p.Asp578=)
|
rs1769880127
|
|
NM_000287.4(PEX6):c.1737G>C (p.Leu579=)
|
|
|
NM_000287.4(PEX6):c.1740T>G (p.Pro580=)
|
rs2114242721
|
|
NM_000287.4(PEX6):c.1743T>C (p.Ala581=)
|
|
|
NM_000287.4(PEX6):c.174G>A (p.Glu58=)
|
rs2150240649
|
|
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys)
|
rs375288192
|
|
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)
|
rs375288192
|
|
NM_000287.4(PEX6):c.1785T>C (p.Ala595=)
|
rs2114242625
|
|
NM_000287.4(PEX6):c.1788G>A (p.Leu596=)
|
rs2114242620
|
|
NM_000287.4(PEX6):c.1788G>C (p.Leu596=)
|
rs2114242620
|
|
NM_000287.4(PEX6):c.1809C>T (p.Ser603=)
|
|
|
NM_000287.4(PEX6):c.180G>A (p.Pro60=)
|
rs2150240640
|
|
NM_000287.4(PEX6):c.180G>T (p.Pro60=)
|
rs2150240640
|
|
NM_000287.4(PEX6):c.1812C>A (p.Ile604=)
|
rs2114242525
|
|
NM_000287.4(PEX6):c.1818G>A (p.Arg606=)
|
rs2114242478
|
|
NM_000287.4(PEX6):c.1821C>A (p.Ala607=)
|
rs201730259
|
|
NM_000287.4(PEX6):c.1824C>T (p.Leu608=)
|
|
|
NM_000287.4(PEX6):c.1833C>T (p.His611=)
|
rs1335182312
|
|
NM_000287.4(PEX6):c.183C>T (p.Asp61=)
|
rs2150240636
|
|
NM_000287.4(PEX6):c.1842G>A (p.Leu614=)
|
|
|
NM_000287.4(PEX6):c.1851G>A (p.Glu617=)
|
rs1769870435
|
|
NM_000287.4(PEX6):c.1854G>T (p.Val618=)
|
rs990806538
|
|
NM_000287.4(PEX6):c.1866G>A (p.Gln622=)
|
|
|
NM_000287.4(PEX6):c.186G>A (p.Ala62=)
|
|
|
NM_000287.4(PEX6):c.1872A>G (p.Ala624=)
|
rs2114242320
|
|
NM_000287.4(PEX6):c.1875G>A (p.Arg625=)
|
|
|
NM_000287.4(PEX6):c.1878G>A (p.Arg626=)
|
|
|
NM_000287.4(PEX6):c.1884+10A>G
|
rs2114242251
|
|
NM_000287.4(PEX6):c.1884+11A>G
|
rs2114242243
|
|
NM_000287.4(PEX6):c.1884+14G>A
|
|
|
NM_000287.4(PEX6):c.1884+15A>G
|
|
|
NM_000287.4(PEX6):c.1884+18G>A
|
|
|
NM_000287.4(PEX6):c.1884+18G>T
|
|
|
NM_000287.4(PEX6):c.1884+20A>T
|
|
|
NM_000287.4(PEX6):c.1884+8T>G
|
rs2114242263
|
|
NM_000287.4(PEX6):c.1885-19C>A
|
|
|
NM_000287.4(PEX6):c.1885-20C>T
|
|
|
NM_000287.4(PEX6):c.1885-4del
|
|
|
NM_000287.4(PEX6):c.1885-5C>T
|
|
|
NM_000287.4(PEX6):c.1885-6C>T
|
|
|
NM_000287.4(PEX6):c.1887C>A (p.Gly629=)
|
rs2114241047
|
|
NM_000287.4(PEX6):c.1893G>A (p.Val631=)
|
|
|
NM_000287.4(PEX6):c.1893G>C (p.Val631=)
|
|
|
NM_000287.4(PEX6):c.1896A>T (p.Val632=)
|
rs2114241015
|
|
NM_000287.4(PEX6):c.1899G>A (p.Gly633=)
|
|
|
NM_000287.4(PEX6):c.18G>A (p.Leu6=)
|
rs2150240933
|
|
NM_000287.4(PEX6):c.1905C>T (p.Leu635=)
|
|
|
NM_000287.4(PEX6):c.1920C>T (p.Thr640=)
|
rs768582992
|
|
NM_000287.4(PEX6):c.1923C>T (p.His641=)
|
|
|
NM_000287.4(PEX6):c.192C>A (p.Thr64=)
|
rs1310661091
|
|
NM_000287.4(PEX6):c.1935A>C (p.Ala645=)
|
rs1769827119
|
|
NM_000287.4(PEX6):c.1944C>T (p.Thr648=)
|
|
|
NM_000287.4(PEX6):c.1961+11G>T
|
|
|
NM_000287.4(PEX6):c.1961+15G>A
|
|
|
NM_000287.4(PEX6):c.1961+16C>A
|
|
|
NM_000287.4(PEX6):c.1961+16C>T
|
|
|
NM_000287.4(PEX6):c.1961+18C>A
|
|
|
NM_000287.4(PEX6):c.1961+18C>G
|
|
|
NM_000287.4(PEX6):c.1961+20G>T
|
rs2274514
|
|
NM_000287.4(PEX6):c.1962-10C>T
|
rs2114240598
|
|
NM_000287.4(PEX6):c.1962-12del
|
|
|
NM_000287.4(PEX6):c.1962-17T>C
|
|
|
NM_000287.4(PEX6):c.1962-20C>T
|
|
|
NM_000287.4(PEX6):c.1962-4G>T
|
|
|
NM_000287.4(PEX6):c.1962-5T>G
|
|
|
NM_000287.4(PEX6):c.1962-6_1962-5del
|
rs776963487
|
|
NM_000287.4(PEX6):c.1962-7T>C
|
rs1195586544
|
|
NM_000287.4(PEX6):c.1968A>G (p.Ala656=)
|
|
|
NM_000287.4(PEX6):c.1974C>A (p.Gly658=)
|
|
|
NM_000287.4(PEX6):c.1989T>C (p.Asp663=)
|
|
|
NM_000287.4(PEX6):c.1992G>A (p.Glu664=)
|
rs267608230
|
|
NM_000287.4(PEX6):c.1998G>A (p.Glu666=)
|
|
|
NM_000287.4(PEX6):c.1999C>T (p.Leu667=)
|
|
|
NM_000287.4(PEX6):c.19C>A (p.Arg7=)
|
rs1217791583
|
|
NM_000287.4(PEX6):c.2001G>A (p.Leu667=)
|
|
|
NM_000287.4(PEX6):c.2022C>T (p.Leu674=)
|
|
|
NM_000287.4(PEX6):c.2023C>T (p.Leu675=)
|
|
|
NM_000287.4(PEX6):c.2026G>A (p.Ala676Thr)
|
|
|
NM_000287.4(PEX6):c.2031G>A (p.Glu677=)
|
|
|
NM_000287.4(PEX6):c.2037T>C (p.Phe679=)
|
|
|
NM_000287.4(PEX6):c.2040G>A (p.Gly680=)
|
rs2114240422
|
|
NM_000287.4(PEX6):c.2049G>A (p.Leu683=)
|
rs1769817453
|
|
NM_000287.4(PEX6):c.2058G>A (p.Leu686=)
|
|
|
NM_000287.4(PEX6):c.2064A>C (p.Thr688=)
|
rs2114240371
|
|
NM_000287.4(PEX6):c.2079C>A (p.Ala693=)
|
|
|
NM_000287.4(PEX6):c.207C>G (p.Pro69=)
|
rs11539736
|
|
NM_000287.4(PEX6):c.2082T>C (p.Val694=)
|
|
|
NM_000287.4(PEX6):c.2085A>C (p.Gly695=)
|
|
|
NM_000287.4(PEX6):c.2088C>G (p.Ala696=)
|
|
|
NM_000287.4(PEX6):c.2091C>A (p.Pro697=)
|
|
|
NM_000287.4(PEX6):c.2094+11del
|
|
|
NM_000287.4(PEX6):c.2094+16T>C
|
|
|
NM_000287.4(PEX6):c.2094+19G>A
|
rs2114240256
|
|
NM_000287.4(PEX6):c.2094+8C>A
|
|
|
NM_000287.4(PEX6):c.2094+9del
|
rs2114240279
|
|
NM_000287.4(PEX6):c.2095-12T>C
|
|
|
NM_000287.4(PEX6):c.2095-13T>C
|
|
|
NM_000287.4(PEX6):c.2095-15C>T
|
|
|
NM_000287.4(PEX6):c.2095-16A>G
|
|
|
NM_000287.4(PEX6):c.2095-17C>T
|
|
|
NM_000287.4(PEX6):c.2095-4C>T
|
|
|
NM_000287.4(PEX6):c.2095-9A>G
|
|
|
NM_000287.4(PEX6):c.2100C>G (p.Pro700=)
|
|
|
NM_000287.4(PEX6):c.2103A>G (p.Ser701=)
|
rs2114240136
|
|
NM_000287.4(PEX6):c.2118T>C (p.Asp706=)
|
rs1643998562
|
|
NM_000287.4(PEX6):c.2128C>T (p.Leu710=)
|
rs2114240061
|
|
NM_000287.4(PEX6):c.2130G>A (p.Leu710=)
|
rs944937782
|
|
NM_000287.4(PEX6):c.213G>C (p.Pro71=)
|
rs1461633447
|
|
NM_000287.4(PEX6):c.2154G>A (p.Leu718=)
|
rs771745520
|
|
NM_000287.4(PEX6):c.2160C>G (p.Thr720=)
|
|
|
NM_000287.4(PEX6):c.2160C>T (p.Thr720=)
|
rs1313491168
|
|
NM_000287.4(PEX6):c.2163T>C (p.Ile721=)
|
|
|
NM_000287.4(PEX6):c.2166G>A (p.Gln722=)
|
|
|
NM_000287.4(PEX6):c.2169C>T (p.Leu723=)
|
|
|
NM_000287.4(PEX6):c.216G>T (p.Pro72=)
|
rs2150240570
|
|
NM_000287.4(PEX6):c.2172C>G (p.Pro724=)
|
rs1463523319
|
|
NM_000287.4(PEX6):c.2173C>T (p.Leu725=)
|
rs796113440
|
|
NM_000287.4(PEX6):c.2181C>T (p.His727=)
|
|
|
NM_000287.4(PEX6):c.2184T>A (p.Pro728=)
|
rs2114239893
|
|
NM_000287.4(PEX6):c.2190A>G (p.Leu730=)
|
|
|
NM_000287.4(PEX6):c.2193G>A (p.Leu731=)
|
rs1769805711
|
|
NM_000287.4(PEX6):c.21G>A (p.Arg7=)
|
|
|
NM_000287.4(PEX6):c.2202C>A (p.Gly734=)
|
rs2114239852
|
|
NM_000287.4(PEX6):c.2203C>T (p.Leu735=)
|
rs2114239848
|
|
NM_000287.4(PEX6):c.2208A>G (p.Arg736=)
|
rs1769804754
|
|
NM_000287.4(PEX6):c.2211C>T (p.Arg737=)
|
rs1769804334
|
|
NM_000287.4(PEX6):c.2214A>T (p.Ser738=)
|
rs1769804133
|
|
NM_000287.4(PEX6):c.2226C>T (p.Leu742=)
|
rs1769803541
|
|
NM_000287.4(PEX6):c.222A>G (p.Leu74=)
|
|
|
NM_000287.4(PEX6):c.2232G>T (p.Gly744=)
|
|
|
NM_000287.4(PEX6):c.2250G>A (p.Lys750=)
|
rs2114239706
|
|
NM_000287.4(PEX6):c.2253C>T (p.Thr751=)
|
rs369174722
|
|
NM_000287.4(PEX6):c.2268A>T (p.Ala756=)
|
rs1769801311
|
|
NM_000287.4(PEX6):c.2286C>T (p.Ser762=)
|
rs2114239613
|
|
NM_000287.4(PEX6):c.2289T>G (p.Leu763=)
|
|
|
NM_000287.4(PEX6):c.2292C>A (p.Thr764=)
|
|
|
NM_000287.4(PEX6):c.2300+10G>A
|
rs2114239578
|
|
NM_000287.4(PEX6):c.2300+11G>A
|
|
|
NM_000287.4(PEX6):c.2300+8G>A
|
|
|
NM_000287.4(PEX6):c.2300+9G>A
|
rs1181349199
|
|
NM_000287.4(PEX6):c.2301-11C>T
|
|
|
NM_000287.4(PEX6):c.2301-15C>A
|
|
|
NM_000287.4(PEX6):c.2301-15C>T
|
rs267608236
|
|
NM_000287.4(PEX6):c.2301-16A>C
|
|
|
NM_000287.4(PEX6):c.2301-20_2301-18del
|
|
|
NM_000287.4(PEX6):c.2301-5C>T
|
rs267608238
|
|
NM_000287.4(PEX6):c.2301-5_2301-2del
|
rs748032659
|
|
NM_000287.4(PEX6):c.2301-7C>T
|
|
|
NM_000287.4(PEX6):c.2301-8T>C
|
|
|
NM_000287.4(PEX6):c.2301-9C>G
|
rs1769791098
|
|
NM_000287.4(PEX6):c.2301-9C>T
|
|
|
NM_000287.4(PEX6):c.2304G>A (p.Val768=)
|
rs1387258527
|
|
NM_000287.4(PEX6):c.2325C>T (p.Asn775=)
|
rs2114239277
|
|
NM_000287.4(PEX6):c.2334G>T (p.Val778=)
|
|
|
NM_000287.4(PEX6):c.2343T>C (p.Ser781=)
|
rs1769788025
|
|
NM_000287.4(PEX6):c.2352T>C (p.Asn784=)
|
rs2114239219
|
|
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr)
|
rs61752141
|
|
NM_000287.4(PEX6):c.2362+10C>G
|
rs755336114
|
|
NM_000287.4(PEX6):c.2362+10C>T
|
rs755336114
|
|
NM_000287.4(PEX6):c.2362+19G>T
|
|
|
NM_000287.4(PEX6):c.2362+20C>A
|
|
|
NM_000287.4(PEX6):c.2362+7G>A
|
|
|
NM_000287.4(PEX6):c.2362+9_2362+10delinsAA
|
|
|
NM_000287.4(PEX6):c.2363-10C>G
|
rs370221316
|
|
NM_000287.4(PEX6):c.2363-10C>T
|
rs370221316
|
|
NM_000287.4(PEX6):c.2363-10dup
|
|
|
NM_000287.4(PEX6):c.2363-11T>C
|
rs2114238716
|
|
NM_000287.4(PEX6):c.2363-14CT[4]
|
|
|
NM_000287.4(PEX6):c.2363-16C>A
|
|
|
NM_000287.4(PEX6):c.2363-16C>T
|
|
|
NM_000287.4(PEX6):c.2363-4T>C
|
|
|
NM_000287.4(PEX6):c.2363-5_2363-4del
|
|
|
NM_000287.4(PEX6):c.2363-6C>G
|
rs2114238693
|
|
NM_000287.4(PEX6):c.2363-8C>G
|
|
|
NM_000287.4(PEX6):c.2363-8C>T
|
rs1728720291
|
|
NM_000287.4(PEX6):c.2370C>T (p.Ala790=)
|
rs2114238658
|
|
NM_000287.4(PEX6):c.2379G>A (p.Arg793=)
|
rs1769771037
|
|
NM_000287.4(PEX6):c.2403C>T (p.Phe801=)
|
|
|
NM_000287.4(PEX6):c.2433C>T (p.Ser811=)
|
rs749497998
|
|
NM_000287.4(PEX6):c.2436G>T (p.Arg812=)
|
|
|
NM_000287.4(PEX6):c.2439G>C (p.Gly813=)
|
|
|
NM_000287.4(PEX6):c.2445T>C (p.Ser815=)
|
rs2114238472
|
|
NM_000287.4(PEX6):c.2471+11G>A
|
|
|
NM_000287.4(PEX6):c.2471+13G>T
|
|
|
NM_000287.4(PEX6):c.2471+15G>A
|
|
|
NM_000287.4(PEX6):c.2471+20T>A
|
|
|
NM_000287.4(PEX6):c.2472-10T>G
|
rs2114237782
|
|
NM_000287.4(PEX6):c.2472-11C>T
|
|
|
NM_000287.4(PEX6):c.2472-13C>T
|
|
|
NM_000287.4(PEX6):c.2472-16G>A
|
|
|
NM_000287.4(PEX6):c.2472-16G>T
|
|
|
NM_000287.4(PEX6):c.2472-6del
|
|
|
NM_000287.4(PEX6):c.2472-9TC[2]
|
|
|
NM_000287.4(PEX6):c.2478G>A (p.Val826=)
|
rs1769733339
|
|
NM_000287.4(PEX6):c.2484G>A (p.Gln828=)
|
|
|
NM_000287.4(PEX6):c.2487C>G (p.Leu829=)
|
|
|
NM_000287.4(PEX6):c.2490T>C (p.Leu830=)
|
|
|
NM_000287.4(PEX6):c.249C>G (p.Leu83=)
|
|
|
NM_000287.4(PEX6):c.2511C>T (p.His837=)
|
|
|
NM_000287.4(PEX6):c.2535T>C (p.Ile845=)
|
rs2114237619
|
|
NM_000287.4(PEX6):c.2559C>T (p.Leu853=)
|
rs767271773
|
|
NM_000287.4(PEX6):c.2560C>T (p.Leu854=)
|
rs2114237541
|
|
NM_000287.4(PEX6):c.2574T>C (p.Leu858=)
|
rs2114237512
|
|
NM_000287.4(PEX6):c.2575C>T (p.Leu859=)
|
|
|
NM_000287.4(PEX6):c.2577G>A (p.Leu859=)
|
rs2114237503
|
|
NM_000287.4(PEX6):c.2580G>A (p.Arg860=)
|
rs1257737208
|
|
NM_000287.4(PEX6):c.2580G>T (p.Arg860=)
|
rs1257737208
|
|
NM_000287.4(PEX6):c.2588+13T>G
|
|
|
NM_000287.4(PEX6):c.2588+14dup
|
|
|
NM_000287.4(PEX6):c.2588+15C>T
|
|
|
NM_000287.4(PEX6):c.2588+18C>T
|
|
|
NM_000287.4(PEX6):c.2588+19T>A
|
|
|
NM_000287.4(PEX6):c.2588+8C>G
|
|
|
NM_000287.4(PEX6):c.2588+9C>G
|
|
|
NM_000287.4(PEX6):c.2589-10C>T
|
|
|
NM_000287.4(PEX6):c.2589-12A>G
|
|
|
NM_000287.4(PEX6):c.2589-19C>A
|
|
|
NM_000287.4(PEX6):c.2589-20A>G
|
|
|
NM_000287.4(PEX6):c.2589-4A>T
|
rs759850777
|
|
NM_000287.4(PEX6):c.258G>A (p.Leu86=)
|
rs1021122110
|
|
NM_000287.4(PEX6):c.2595C>T (p.Asp865=)
|
rs776978889
|
|
NM_000287.4(PEX6):c.2601G>A (p.Leu867=)
|
|
|
NM_000287.4(PEX6):c.2601G>T (p.Leu867=)
|
rs1769712635
|
|
NM_000287.4(PEX6):c.2610G>T (p.Val870=)
|
rs1769711405
|
|
NM_000287.4(PEX6):c.2616A>T (p.Ala872=)
|
|
|
NM_000287.4(PEX6):c.2619T>C (p.Asn873=)
|
rs886043369
|
|
NM_000287.4(PEX6):c.261C>T (p.Gly87=)
|
|
|
NM_000287.4(PEX6):c.2631C>A (p.Ala877=)
|
|
|
NM_000287.4(PEX6):c.2634C>T (p.Ser878=)
|
rs965913951
|
|
NM_000287.4(PEX6):c.2640A>G (p.Leu880=)
|
rs2114237030
|
|
NM_000287.4(PEX6):c.2649A>C (p.Leu883=)
|
|
|
NM_000287.4(PEX6):c.2649A>G (p.Leu883=)
|
rs752553005
|
|
NM_000287.4(PEX6):c.2658C>A (p.Ile886=)
|
rs2114236956
|
|
NM_000287.4(PEX6):c.2666+13A>G
|
rs2114236890
|
|
NM_000287.4(PEX6):c.2666+14G>A
|
|
|
NM_000287.4(PEX6):c.2666+19A>C
|
|
|
NM_000287.4(PEX6):c.2666+8C>G
|
|
|
NM_000287.4(PEX6):c.2666+8C>T
|
rs1769705093
|
|
NM_000287.4(PEX6):c.2666+8_2666+9del
|
|
|
NM_000287.4(PEX6):c.2667-10C>A
|
rs1554126803
|
|
NM_000287.4(PEX6):c.2667-12A>G
|
|
|
NM_000287.4(PEX6):c.2667-16C>T
|
|
|
NM_000287.4(PEX6):c.2667-6C>T
|
|
|
NM_000287.4(PEX6):c.2667-9C>T
|
rs2114236564
|
|
NM_000287.4(PEX6):c.267G>C (p.Gly89=)
|
rs2150240475
|
|
NM_000287.4(PEX6):c.2691C>T (p.Ser897=)
|
|
|
NM_000287.4(PEX6):c.2692C>T (p.Leu898=)
|
|
|
NM_000287.4(PEX6):c.2694G>A (p.Leu898=)
|
rs1581757319
|
|
NM_000287.4(PEX6):c.2703G>A (p.Val901=)
|
|
|
NM_000287.4(PEX6):c.2709T>C (p.Asp903=)
|
|
|
NM_000287.4(PEX6):c.270C>G (p.Ala90=)
|
rs760748453
|
|
NM_000287.4(PEX6):c.270C>T (p.Ala90=)
|
|
|
NM_000287.4(PEX6):c.2718T>C (p.Pro906=)
|
rs2114236423
|
|
NM_000287.4(PEX6):c.2724G>A (p.Gln908=)
|
rs2114236409
|
|
NM_000287.4(PEX6):c.2754C>T (p.Cys918=)
|
|
|
NM_000287.4(PEX6):c.2757T>C (p.Ser919=)
|
rs747906867
|
|
NM_000287.4(PEX6):c.2763T>A (p.Ala921=)
|
|
|
NM_000287.4(PEX6):c.276G>A (p.Val92=)
|
rs2150240428
|
|
NM_000287.4(PEX6):c.2778C>G (p.Leu926=)
|
|
|
NM_000287.4(PEX6):c.2778C>T (p.Leu926=)
|
|
|
NM_000287.4(PEX6):c.2790T>G (p.Val930=)
|
|
|
NM_000287.4(PEX6):c.2797C>T (p.Leu933=)
|
|
|
NM_000287.4(PEX6):c.279G>A (p.Arg93=)
|
rs2150240420
|
|
NM_000287.4(PEX6):c.2806+15G>C
|
|
|
NM_000287.4(PEX6):c.2806+9C>A
|
rs2114236111
|
|
NM_000287.4(PEX6):c.2807-14C>T
|
|
|
NM_000287.4(PEX6):c.2807-15_2807-14delinsAT
|
rs2114235483
|
|
NM_000287.4(PEX6):c.2807-16A>G
|
|
|
NM_000287.4(PEX6):c.2807-17C>A
|
|
|
NM_000287.4(PEX6):c.2807-17C>G
|
|
|
NM_000287.4(PEX6):c.2807-19C>T
|
|
|
NM_000287.4(PEX6):c.2807-4C>G
|
rs2114235455
|
|
NM_000287.4(PEX6):c.2807-5T>G
|
|
|
NM_000287.4(PEX6):c.2807-8A>G
|
rs2114235473
|
|
NM_000287.4(PEX6):c.2809C>T (p.Leu937=)
|
|
|
NM_000287.4(PEX6):c.2811G>A (p.Leu937=)
|
|
|
NM_000287.4(PEX6):c.2811G>T (p.Leu937=)
|
rs1458911417
|
|
NM_000287.4(PEX6):c.2814_2816delinsACA (p.Pro939Gln)
|
|
|
NM_000287.4(PEX6):c.2826A>G (p.Ser942=)
|
rs2114235359
|
|
NM_000287.4(PEX6):c.2829A>C (p.Ala943=)
|
|
|
NM_000287.4(PEX6):c.282G>A (p.Ala94=)
|
|
|
NM_000287.4(PEX6):c.2838C>T (p.Leu946=)
|
rs1561818692
|
|
NM_000287.4(PEX6):c.2847G>A (p.Glu949=)
|
|
|
NM_000287.4(PEX6):c.2850C>T (p.Asp950=)
|
rs1251800022
|
|
NM_000287.4(PEX6):c.2856G>A (p.Leu952=)
|
|
|
NM_000287.4(PEX6):c.2862T>G (p.Ala954=)
|
|
|
NM_000287.4(PEX6):c.2865C>T (p.Ala955=)
|
rs1407928755
|
|
NM_000287.4(PEX6):c.2871G>A (p.Arg957=)
|
rs1370470867
|
|
NM_000287.4(PEX6):c.2874G>C (p.Leu958=)
|
rs769653284
|
|
NM_000287.4(PEX6):c.2883A>G (p.Ser961=)
|
|
|
NM_000287.4(PEX6):c.288G>T (p.Ala96=)
|
rs554104839
|
|
NM_000287.4(PEX6):c.2892G>A (p.Glu964=)
|
rs1561818538
|
|
NM_000287.4(PEX6):c.2895G>A (p.Gln965=)
|
|
|
NM_000287.4(PEX6):c.2901G>A (p.Leu967=)
|
|
|
NM_000287.4(PEX6):c.2904C>T (p.Leu968=)
|
|
|
NM_000287.4(PEX6):c.2907G>A (p.Arg969=)
|
rs145243129
|
|
NM_000287.4(PEX6):c.2907G>C (p.Arg969=)
|
rs145243129
|
|
NM_000287.4(PEX6):c.2910C>T (p.Tyr970=)
|
rs1448846802
|
|
NM_000287.4(PEX6):c.2943G>A (p.Ter981=)
|
rs747103168
|
|
NM_000287.4(PEX6):c.294G>A (p.Arg98=)
|
|
|
NM_000287.4(PEX6):c.295C>A (p.Arg99=)
|
rs772383329
|
|
NM_000287.4(PEX6):c.297G>A (p.Arg99=)
|
rs1217985540
|
|
NM_000287.4(PEX6):c.300C>G (p.Pro100=)
|
|
|
NM_000287.4(PEX6):c.300C>T (p.Pro100=)
|
rs1581779515
|
|
NM_000287.4(PEX6):c.306G>C (p.Ala102=)
|
rs727504083
|
|
NM_000287.4(PEX6):c.30G>A (p.Glu10=)
|
rs1372206461
|
|
NM_000287.4(PEX6):c.318A>C (p.Ala106=)
|
rs1581779470
|
|
NM_000287.4(PEX6):c.321G>A (p.Leu107=)
|
|
|
NM_000287.4(PEX6):c.330C>T (p.Thr110=)
|
|
|
NM_000287.4(PEX6):c.333G>C (p.Ser111=)
|
|
|
NM_000287.4(PEX6):c.334C>T (p.Leu112=)
|
rs756950827
|
|
NM_000287.4(PEX6):c.336G>A (p.Leu112=)
|
|
|
NM_000287.4(PEX6):c.336G>T (p.Leu112=)
|
rs1194598013
|
|
NM_000287.4(PEX6):c.339G>T (p.Gly113=)
|
rs1770429617
|
|
NM_000287.4(PEX6):c.33C>T (p.Pro11=)
|
|
|
NM_000287.4(PEX6):c.357A>T (p.Arg119=)
|
|
|
NM_000287.4(PEX6):c.363G>A (p.Gly121=)
|
rs1282410534
|
|
NM_000287.4(PEX6):c.366G>C (p.Pro122=)
|
rs2150240248
|
|
NM_000287.4(PEX6):c.369G>A (p.Leu123=)
|
rs2150240235
|
|
NM_000287.4(PEX6):c.369G>C (p.Leu123=)
|
rs2150240235
|
|
NM_000287.4(PEX6):c.36T>C (p.Phe12=)
|
|
|
NM_000287.4(PEX6):c.370C>T (p.Leu124=)
|
rs2150240232
|
|
NM_000287.4(PEX6):c.372G>A (p.Leu124=)
|
|
|
NM_000287.4(PEX6):c.375G>T (p.Val125=)
|
rs765259967
|
|
NM_000287.4(PEX6):c.381C>G (p.Arg127=)
|
rs1377750772
|
|
NM_000287.4(PEX6):c.393C>T (p.Leu131=)
|
|
|
NM_000287.4(PEX6):c.396A>C (p.Pro132=)
|
|
|
NM_000287.4(PEX6):c.399G>C (p.Val133=)
|
rs9462858
|
|
NM_000287.4(PEX6):c.39G>C (p.Pro13=)
|
|
|
NM_000287.4(PEX6):c.405A>G (p.Gly135=)
|
rs2150240134
|
|
NM_000287.4(PEX6):c.411G>C (p.Arg137=)
|
|
|
NM_000287.4(PEX6):c.423G>C (p.Thr141=)
|
|
|
NM_000287.4(PEX6):c.42C>T (p.Thr14=)
|
rs1375938727
|
|
NM_000287.4(PEX6):c.433T>C (p.Leu145=)
|
|
|
NM_000287.4(PEX6):c.441G>A (p.Gly147=)
|
rs1462833567
|
|
NM_000287.4(PEX6):c.444G>C (p.Leu148=)
|
rs1022934488
|
|
NM_000287.4(PEX6):c.444G>T (p.Leu148=)
|
rs1022934488
|
|
NM_000287.4(PEX6):c.445C>T (p.Leu149=)
|
rs2150240046
|
|
NM_000287.4(PEX6):c.453A>G (p.Pro151=)
|
|
|
NM_000287.4(PEX6):c.459T>C (p.Thr153=)
|
|
|
NM_000287.4(PEX6):c.463C>T (p.Leu155=)
|
|
|
NM_000287.4(PEX6):c.465G>T (p.Leu155=)
|
|
|
NM_000287.4(PEX6):c.474T>G (p.Thr158=)
|
|
|
NM_000287.4(PEX6):c.480C>T (p.Leu160=)
|
|
|
NM_000287.4(PEX6):c.483C>A (p.Arg161=)
|
rs772034979
|
|
NM_000287.4(PEX6):c.486G>A (p.Gly162=)
|
|
|
NM_000287.4(PEX6):c.498G>C (p.Leu166=)
|
|
|
NM_000287.4(PEX6):c.516C>T (p.Asp172=)
|
rs2150239905
|
|
NM_000287.4(PEX6):c.519C>T (p.Ser173=)
|
|
|
NM_000287.4(PEX6):c.528C>T (p.Pro176=)
|
rs2150239878
|
|
NM_000287.4(PEX6):c.534C>G (p.Pro178=)
|
rs899897123
|
|
NM_000287.4(PEX6):c.540C>T (p.Pro180=)
|
|
|
NM_000287.4(PEX6):c.549C>T (p.Ser183=)
|
rs2150239811
|
|
NM_000287.4(PEX6):c.552C>T (p.Ser184=)
|
|
|
NM_000287.4(PEX6):c.555T>C (p.Phe185=)
|
rs2150239797
|
|
NM_000287.4(PEX6):c.558G>C (p.Ala186=)
|
rs1443640798
|
|
NM_000287.4(PEX6):c.55T>C (p.Leu19=)
|
|
|
NM_000287.4(PEX6):c.564T>G (p.Ser188=)
|
rs569094067
|
|
NM_000287.4(PEX6):c.573G>A (p.Val191=)
|
rs2150239764
|
|
NM_000287.4(PEX6):c.588A>G (p.Gly196=)
|
rs1581778763
|
|
NM_000287.4(PEX6):c.592C>T (p.Leu198=)
|
|
|
NM_000287.4(PEX6):c.594G>A (p.Leu198=)
|
|
|
NM_000287.4(PEX6):c.594G>T (p.Leu198=)
|
|
|
NM_000287.4(PEX6):c.603T>G (p.Thr201=)
|
|
|
NM_000287.4(PEX6):c.612A>C (p.Ser204=)
|
|
|
NM_000287.4(PEX6):c.612A>G (p.Ser204=)
|
rs886043877
|
|
NM_000287.4(PEX6):c.618G>C (p.Gly206=)
|
rs200477648
|
|
NM_000287.4(PEX6):c.624C>T (p.Ser208=)
|
rs768283442
|
|
NM_000287.4(PEX6):c.625C>A (p.Arg209=)
|
|
|
NM_000287.4(PEX6):c.630C>T (p.Ser210=)
|
|
|
NM_000287.4(PEX6):c.636C>T (p.Leu212=)
|
|
|
NM_000287.4(PEX6):c.63G>T (p.Val21=)
|
rs2150240833
|
|
NM_000287.4(PEX6):c.645T>C (p.Leu215=)
|
rs2150239655
|
|
NM_000287.4(PEX6):c.660C>A (p.Gly220=)
|
|
|
NM_000287.4(PEX6):c.669G>C (p.Val223=)
|
rs899965642
|
|
NM_000287.4(PEX6):c.669G>T (p.Val223=)
|
|
|
NM_000287.4(PEX6):c.675G>C (p.Val225=)
|
rs2150239609
|
|
NM_000287.4(PEX6):c.678C>G (p.Ala226=)
|
|
|
NM_000287.4(PEX6):c.67C>T (p.Leu23=)
|
|
|
NM_000287.4(PEX6):c.681G>A (p.Gln227=)
|
rs1770406319
|
|
NM_000287.4(PEX6):c.684C>G (p.Ala228=)
|
|
|
NM_000287.4(PEX6):c.687A>G (p.Arg229=)
|
|
|
NM_000287.4(PEX6):c.696G>A (p.Ser232=)
|
rs2150239568
|
|
NM_000287.4(PEX6):c.69G>A (p.Leu23=)
|
|
|
NM_000287.4(PEX6):c.6G>A (p.Ala2=)
|
rs1406727123
|
|
NM_000287.4(PEX6):c.711G>A (p.Pro237=)
|
|
|
NM_000287.4(PEX6):c.711G>T (p.Pro237=)
|
|
|
NM_000287.4(PEX6):c.714C>T (p.His238=)
|
|
|
NM_000287.4(PEX6):c.720T>A (p.Ala240=)
|
|
|
NM_000287.4(PEX6):c.723G>A (p.Arg241=)
|
|
|
NM_000287.4(PEX6):c.72A>C (p.Pro24=)
|
rs751357810
|
|
NM_000287.4(PEX6):c.72A>G (p.Pro24=)
|
rs751357810
|
|
NM_000287.4(PEX6):c.733C>T (p.Leu245=)
|
rs2150239501
|
|
NM_000287.4(PEX6):c.738A>G (p.Glu246=)
|
|
|
NM_000287.4(PEX6):c.741T>G (p.Pro247=)
|
rs2150239485
|
|
NM_000287.4(PEX6):c.744C>T (p.Arg248=)
|
|
|
NM_000287.4(PEX6):c.750C>T (p.Asp250=)
|
rs2150239454
|
|
NM_000287.4(PEX6):c.753C>A (p.Leu251=)
|
rs898341197
|
|
NM_000287.4(PEX6):c.756T>C (p.Ser252=)
|
|
|
NM_000287.4(PEX6):c.763C>T (p.Leu255=)
|
|
|
NM_000287.4(PEX6):c.771C>A (p.Pro257=)
|
|
|
NM_000287.4(PEX6):c.774C>T (p.Gly258=)
|
|
|
NM_000287.4(PEX6):c.783G>A (p.Pro261=)
|
rs765629238
|
|
NM_000287.4(PEX6):c.784C>T (p.Leu262=)
|
rs2150239392
|
|
NM_000287.4(PEX6):c.792G>A (p.Glu264=)
|
|
|
NM_000287.4(PEX6):c.795C>A (p.Pro265=)
|
|
|
NM_000287.4(PEX6):c.795C>T (p.Pro265=)
|
|
|
NM_000287.4(PEX6):c.798C>T (p.Leu266=)
|
rs199536286
|
|
NM_000287.4(PEX6):c.801T>A (p.Ala267=)
|
rs2150239377
|
|
NM_000287.4(PEX6):c.813G>A (p.Ala271=)
|
rs35503676
|
|
NM_000287.4(PEX6):c.813G>C (p.Ala271=)
|
rs35503676
|
|
NM_000287.4(PEX6):c.819C>G (p.Val273=)
|
rs748814053
|
|
NM_000287.4(PEX6):c.819C>T (p.Val273=)
|
rs748814053
|
|
NM_000287.4(PEX6):c.822T>G (p.Pro274=)
|
rs2150239341
|
|
NM_000287.4(PEX6):c.825C>A (p.Ala275=)
|
rs1581778079
|
|
NM_000287.4(PEX6):c.828T>C (p.Thr276=)
|
|
|
NM_000287.4(PEX6):c.829T>C (p.Leu277=)
|
rs1198487899
|
|
NM_000287.4(PEX6):c.846C>T (p.Gly282=)
|
rs1219108908
|
|
NM_000287.4(PEX6):c.855C>A (p.Pro285=)
|
rs757897959
|
|
NM_000287.4(PEX6):c.855C>G (p.Pro285=)
|
|
|
NM_000287.4(PEX6):c.855C>T (p.Pro285=)
|
rs757897959
|
|
NM_000287.4(PEX6):c.867A>G (p.Gly289=)
|
|
|
NM_000287.4(PEX6):c.873C>T (p.Leu291=)
|
rs754432833
|
|
NM_000287.4(PEX6):c.882+14C>G
|
rs2150239216
|
|
NM_000287.4(PEX6):c.882+15T>A
|
|
|
NM_000287.4(PEX6):c.882+15del
|
|
|
NM_000287.4(PEX6):c.882+15dup
|
rs2150239214
|
|
NM_000287.4(PEX6):c.882+16G>A
|
|
|
NM_000287.4(PEX6):c.882+17G>A
|
rs1770387850
|
|
NM_000287.4(PEX6):c.882+18G>A
|
|
|
NM_000287.4(PEX6):c.882+18G>T
|
|
|
NM_000287.4(PEX6):c.883-13A>G
|
|
|
NM_000287.4(PEX6):c.883-14T>G
|
|
|
NM_000287.4(PEX6):c.883-15T>C
|
|
|
NM_000287.4(PEX6):c.883-16G>A
|
|
|
NM_000287.4(PEX6):c.883-16G>T
|
|
|
NM_000287.4(PEX6):c.883-19G>A
|
|
|
NM_000287.4(PEX6):c.883-19G>C
|
|
|
NM_000287.4(PEX6):c.883-19G>T
|
|
|
NM_000287.4(PEX6):c.883-5A>G
|
rs1770231417
|
|
NM_000287.4(PEX6):c.883-6T>C
|
rs2150236212
|
|
NM_000287.4(PEX6):c.885G>A (p.Arg295=)
|
|
|
NM_000287.4(PEX6):c.888C>T (p.Tyr296=)
|
|
|
NM_000287.4(PEX6):c.891G>A (p.Leu297=)
|
rs370656546
|
|
NM_000287.4(PEX6):c.906C>T (p.Ala302=)
|
rs1770229856
|
|
NM_000287.4(PEX6):c.912A>G (p.Glu304=)
|
rs2150236157
|
|
NM_000287.4(PEX6):c.921A>C (p.Gly307=)
|
rs1770229227
|
|
NM_000287.4(PEX6):c.924C>T (p.Ser308=)
|
|
|
NM_000287.4(PEX6):c.927C>T (p.Cys309=)
|
rs1770228479
|
|
NM_000287.4(PEX6):c.933G>A (p.Leu311=)
|
rs749452099
|
|
NM_000287.4(PEX6):c.936G>C (p.Leu312=)
|
|
|
NM_000287.4(PEX6):c.945T>C (p.Pro315=)
|
rs2150236089
|
|
NM_000287.4(PEX6):c.948A>T (p.Pro316=)
|
rs781704566
|
|
NM_000287.4(PEX6):c.955A>C (p.Arg319=)
|
rs2150236072
|
|
NM_000287.4(PEX6):c.957A>G (p.Arg319=)
|
|
|
NM_000287.4(PEX6):c.966C>T (p.His322=)
|
rs752190220
|
|
NM_000287.4(PEX6):c.96G>A (p.Ala32=)
|
rs1409096419
|
|
NM_000287.4(PEX6):c.975T>C (p.Ile325=)
|
rs2150236042
|
|
NM_000287.4(PEX6):c.993C>T (p.Tyr331=)
|
rs896144215
|
|
NM_000287.4(PEX6):c.999T>C (p.Thr333=)
|
rs2150236010
|
|
NM_000288.4(PEX7):c.105C>T (p.Ala35=)
|
|
|
NM_000288.4(PEX7):c.108C>G (p.Thr36=)
|
|
|
NM_000288.4(PEX7):c.117C>T (p.His39=)
|
rs779353296
|
|
NM_000288.4(PEX7):c.120C>T (p.Tyr40=)
|
rs61753238
|
|
NM_000288.4(PEX7):c.123C>A (p.Gly41=)
|
|
|
NM_000288.4(PEX7):c.12G>A (p.Val4=)
|
rs2115122241
|
|
NM_000288.4(PEX7):c.130+10C>A
|
rs794726882
|
|
NM_000288.4(PEX7):c.130+10CGC[3]
|
|
|
NM_000288.4(PEX7):c.130+10_130+36dup
|
|
|
NM_000288.4(PEX7):c.130+11G>T
|
rs886061119
|
|
NM_000288.4(PEX7):c.130+12C>T
|
|
|
NM_000288.4(PEX7):c.130+13C>A
|
rs886061120
|
|
NM_000288.4(PEX7):c.130+13C>G
|
|
|
NM_000288.4(PEX7):c.130+13C>T
|
|
|
NM_000288.4(PEX7):c.130+15C>T
|
|
|
NM_000288.4(PEX7):c.130+16G>C
|
|
|
NM_000288.4(PEX7):c.130+16G>T
|
|
|
NM_000288.4(PEX7):c.130+20C>T
|
|
|
NM_000288.4(PEX7):c.130+7C>G
|
|
|
NM_000288.4(PEX7):c.130+7C>T
|
|
|
NM_000288.4(PEX7):c.130+8G>A
|
|
|
NM_000288.4(PEX7):c.130+8G>C
|
rs1222036777
|
|
NM_000288.4(PEX7):c.130+9G>A
|
rs1184848577
|
|
NM_000288.4(PEX7):c.130+9G>C
|
rs1184848577
|
|
NM_000288.4(PEX7):c.131-10T>C
|
rs2115129012
|
|
NM_000288.4(PEX7):c.131-13T>A
|
rs1256206160
|
|
NM_000288.4(PEX7):c.131-16T>C
|
|
|
NM_000288.4(PEX7):c.131-4_131-3del
|
rs768349731
|
|
NM_000288.4(PEX7):c.131-6C>G
|
rs2115129034
|
|
NM_000288.4(PEX7):c.131-7T>A
|
rs2115129029
|
|
NM_000288.4(PEX7):c.131-8C>G
|
rs765917993
|
|
NM_000288.4(PEX7):c.151T>C (p.Leu51=)
|
|
|
NM_000288.4(PEX7):c.15C>T (p.Cys5=)
|
|
|
NM_000288.4(PEX7):c.168T>C (p.Ala56=)
|
|
|
NM_000288.4(PEX7):c.171G>T (p.Gly57=)
|
rs750791932
|
|
NM_000288.4(PEX7):c.172C>T (p.Leu58=)
|
|
|
NM_000288.4(PEX7):c.175A>C (p.Arg59=)
|
|
|
NM_000288.4(PEX7):c.188+8G>A
|
|
|
NM_000288.4(PEX7):c.189-10C>T
|
|
|
NM_000288.4(PEX7):c.189-16T>A
|
|
|
NM_000288.4(PEX7):c.189-20T>C
|
|
|
NM_000288.4(PEX7):c.189-4G>A
|
|
|
NM_000288.4(PEX7):c.189-7A>G
|
rs2115131688
|
|
NM_000288.4(PEX7):c.189-8T>A
|
rs2115131680
|
|
NM_000288.4(PEX7):c.189-9C>T
|
|
|
NM_000288.4(PEX7):c.18T>G (p.Gly6=)
|
|
|
NM_000288.4(PEX7):c.201T>C (p.Asn67=)
|
|
|
NM_000288.4(PEX7):c.208T>C (p.Leu70=)
|
|
|
NM_000288.4(PEX7):c.216T>C (p.Asp72=)
|
rs1582732837
|
|
NM_000288.4(PEX7):c.21A>G (p.Gly7=)
|
|
|
NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)
|
rs560350898
|
|
NM_000288.4(PEX7):c.246C>T (p.Val82=)
|
|
|
NM_000288.4(PEX7):c.24G>A (p.Ala8=)
|
|
|
NM_000288.4(PEX7):c.24G>C (p.Ala8=)
|
rs978818225
|
|
NM_000288.4(PEX7):c.24G>T (p.Ala8=)
|
rs978818225
|
|
NM_000288.4(PEX7):c.255C>G (p.Thr85=)
|
|
|
NM_000288.4(PEX7):c.255C>T (p.Thr85=)
|
|
|
NM_000288.4(PEX7):c.261T>C (p.Ser87=)
|
|
|
NM_000288.4(PEX7):c.264C>A (p.Gly88=)
|
|
|
NM_000288.4(PEX7):c.273G>A (p.Ser91=)
|
rs532273900
|
|
NM_000288.4(PEX7):c.273G>C (p.Ser91=)
|
rs532273900
|
|
NM_000288.4(PEX7):c.279G>A (p.Gln93=)
|
|
|
NM_000288.4(PEX7):c.27G>A (p.Ala9=)
|
rs2115122332
|
|
NM_000288.4(PEX7):c.27G>C (p.Ala9=)
|
|
|
NM_000288.4(PEX7):c.300T>C (p.Ala100=)
|
rs2115132127
|
|
NM_000288.4(PEX7):c.310C>T (p.Leu104=)
|
rs2115132172
|
|
NM_000288.4(PEX7):c.315A>G (p.Gln105=)
|
rs767901695
|
|
NM_000288.4(PEX7):c.327A>G (p.Glu109=)
|
|
|
NM_000288.4(PEX7):c.330C>T (p.His110=)
|
rs199648976
|
|
NM_000288.4(PEX7):c.336G>A (p.Gln112=)
|
|
|
NM_000288.4(PEX7):c.339+10A>C
|
rs374668045
|
|
NM_000288.4(PEX7):c.339+14C>A
|
|
|
NM_000288.4(PEX7):c.339+15T>A
|
|
|
NM_000288.4(PEX7):c.339+17T>C
|
|
|
NM_000288.4(PEX7):c.339+19T>C
|
rs2115132321
|
|
NM_000288.4(PEX7):c.339+20G>A
|
|
|
NM_000288.4(PEX7):c.339+9G>C
|
|
|
NM_000288.4(PEX7):c.340-12C>A
|
|
|
NM_000288.4(PEX7):c.340-14T>C
|
|
|
NM_000288.4(PEX7):c.340-9T>C
|
|
|
NM_000288.4(PEX7):c.387G>A (p.Val129=)
|
|
|
NM_000288.4(PEX7):c.396A>G (p.Ser132=)
|
rs1774583856
|
|
NM_000288.4(PEX7):c.39G>A (p.Arg13=)
|
|
|
NM_000288.4(PEX7):c.408T>C (p.Thr136=)
|
rs776675774
|
|
NM_000288.4(PEX7):c.411C>G (p.Val137=)
|
|
|
NM_000288.4(PEX7):c.417+19A>G
|
|
|
NM_000288.4(PEX7):c.417+7T>C
|
rs2115170673
|
|
NM_000288.4(PEX7):c.417+8A>G
|
rs1162725998
|
|
NM_000288.4(PEX7):c.418-10T>C
|
rs2115171417
|
|
NM_000288.4(PEX7):c.418-15T>A
|
|
|
NM_000288.4(PEX7):c.418-16A>C
|
|
|
NM_000288.4(PEX7):c.418-18C>T
|
|
|
NM_000288.4(PEX7):c.418-4G>A
|
rs199552223
|
|
NM_000288.4(PEX7):c.429T>G (p.Thr143=)
|
|
|
NM_000288.4(PEX7):c.444G>A (p.Leu148=)
|
rs2115171520
|
|
NM_000288.4(PEX7):c.459C>G (p.Gly153=)
|
|
|
NM_000288.4(PEX7):c.462T>C (p.His154=)
|
rs753312829
|
|
NM_000288.4(PEX7):c.465A>G (p.Glu155=)
|
rs1582745048
|
|
NM_000288.4(PEX7):c.477T>C (p.Tyr159=)
|
|
|
NM_000288.4(PEX7):c.480C>T (p.Ser160=)
|
rs2115171668
|
|
NM_000288.4(PEX7):c.486C>T (p.Ile162=)
|
|
|
NM_000288.4(PEX7):c.48A>G (p.Gly16=)
|
|
|
NM_000288.4(PEX7):c.492T>G (p.Ser164=)
|
|
|
NM_000288.4(PEX7):c.495C>G (p.Pro165=)
|
rs2115171713
|
|
NM_000288.4(PEX7):c.498C>T (p.His166=)
|
|
|
NM_000288.4(PEX7):c.504T>C (p.Pro168=)
|
rs770113657
|
|
NM_000288.4(PEX7):c.507T>C (p.Gly169=)
|
|
|
NM_000288.4(PEX7):c.513T>C (p.Phe171=)
|
rs2115171775
|
|
NM_000288.4(PEX7):c.516T>C (p.Ala172=)
|
rs2115171786
|
|
NM_000288.4(PEX7):c.516T>G (p.Ala172=)
|
rs2115171786
|
|
NM_000288.4(PEX7):c.519A>G (p.Ser173=)
|
|
|
NM_000288.4(PEX7):c.519A>T (p.Ser173=)
|
rs2115171796
|
|
NM_000288.4(PEX7):c.526+12T>C
|
|
|
NM_000288.4(PEX7):c.526+15A>G
|
|
|
NM_000288.4(PEX7):c.526+7T>A
|
|
|
NM_000288.4(PEX7):c.526+8A>T
|
|
|
NM_000288.4(PEX7):c.526+9T>C
|
|
|
NM_000288.4(PEX7):c.527-11C>G
|
|
|
NM_000288.4(PEX7):c.527-11C>T
|
|
|
NM_000288.4(PEX7):c.527-15C>T
|
rs771346363
|
|
NM_000288.4(PEX7):c.527-17G>A
|
|
|
NM_000288.4(PEX7):c.527-5A>G
|
rs1222228219
|
|
NM_000288.4(PEX7):c.54C>T (p.His18=)
|
rs1188167149
|
|
NM_000288.4(PEX7):c.558G>A (p.Lys186=)
|
|
|
NM_000288.4(PEX7):c.561A>G (p.Ala187=)
|
rs2115216726
|
|
NM_000288.4(PEX7):c.570A>G (p.Val190=)
|
rs1392688180
|
|
NM_000288.4(PEX7):c.57C>T (p.Gly19=)
|
rs2115122524
|
|
NM_000288.4(PEX7):c.597A>G (p.Ala199=)
|
rs1775078603
|
|
NM_000288.4(PEX7):c.609T>C (p.Ser203=)
|
|
|
NM_000288.4(PEX7):c.60C>T (p.Tyr20=)
|
rs1057516882
|
|
NM_000288.4(PEX7):c.633+11T>G
|
|
|
NM_000288.4(PEX7):c.633+15del
|
|
|
NM_000288.4(PEX7):c.633+16C>T
|
|
|
NM_000288.4(PEX7):c.633+17T>C
|
|
|
NM_000288.4(PEX7):c.633+18A>G
|
|
|
NM_000288.4(PEX7):c.633+20C>T
|
|
|
NM_000288.4(PEX7):c.633+5_633+8dup
|
|
|
NM_000288.4(PEX7):c.633+7T>C
|
rs1189483255
|
|
NM_000288.4(PEX7):c.633+8G>A
|
rs2115216969
|
|
NM_000288.4(PEX7):c.634-13G>C
|
|
|
NM_000288.4(PEX7):c.634-16T>G
|
|
|
NM_000288.4(PEX7):c.634-4_634-3del
|
|
|
NM_000288.4(PEX7):c.634-8G>C
|
|
|
NM_000288.4(PEX7):c.634-9T>C
|
|
|
NM_000288.4(PEX7):c.636T>C (p.Asn212=)
|
rs2115224289
|
|
NM_000288.4(PEX7):c.639G>A (p.Leu213=)
|
rs2115224297
|
|
NM_000288.4(PEX7):c.63C>A (p.Ala21=)
|
rs935581914
|
|
NM_000288.4(PEX7):c.63C>G (p.Ala21=)
|
rs935581914
|
|
NM_000288.4(PEX7):c.640C>T (p.Leu214=)
|
rs1582759870
|
|
NM_000288.4(PEX7):c.648C>G (p.Thr216=)
|
rs754226264
|
|
NM_000288.4(PEX7):c.654G>T (p.Ala218=)
|
rs1414537422
|
|
NM_000288.4(PEX7):c.66C>G (p.Ala22=)
|
|
|
NM_000288.4(PEX7):c.66C>T (p.Ala22=)
|
rs1208528237
|
|
NM_000288.4(PEX7):c.672A>G (p.Arg224=)
|
rs747145944
|
|
NM_000288.4(PEX7):c.690T>C (p.Asn230=)
|
rs762666939
|
|
NM_000288.4(PEX7):c.699A>G (p.Gln233=)
|
rs2115224521
|
|
NM_000288.4(PEX7):c.69G>A (p.Glu23=)
|
|
|
NM_000288.4(PEX7):c.702A>G (p.Pro234=)
|
|
|
NM_000288.4(PEX7):c.705G>T (p.Val235=)
|
|
|
NM_000288.4(PEX7):c.717T>A (p.Leu239=)
|
|
|
NM_000288.4(PEX7):c.72C>T (p.Phe24=)
|
rs1774100078
|
|
NM_000288.4(PEX7):c.739A>C (p.Arg247=)
|
rs2115224658
|
|
NM_000288.4(PEX7):c.741G>A (p.Arg247=)
|
rs201562684
|
|
NM_000288.4(PEX7):c.747+10C>T
|
rs2115224694
|
|
NM_000288.4(PEX7):c.747+11A>G
|
|
|
NM_000288.4(PEX7):c.747+11A>T
|
rs370027126
|
|
NM_000288.4(PEX7):c.747+18C>T
|
|
|
NM_000288.4(PEX7):c.748-13T>C
|
|
|
NM_000288.4(PEX7):c.748-14T>C
|
|
|
NM_000288.4(PEX7):c.748-16C>A
|
|
|
NM_000288.4(PEX7):c.748-16_748-14del
|
rs2115228612
|
|
NM_000288.4(PEX7):c.748-4G>T
|
rs74658757
|
|
NM_000288.4(PEX7):c.748-6T>G
|
|
|
NM_000288.4(PEX7):c.759T>C (p.Phe253=)
|
rs1237865567
|
|
NM_000288.4(PEX7):c.75C>T (p.Ser25=)
|
rs1774100185
|
|
NM_000288.4(PEX7):c.765T>G (p.Ala255=)
|
|
|
NM_000288.4(PEX7):c.772C>T (p.Leu258=)
|
|
|
NM_000288.4(PEX7):c.777C>G (p.Ala259=)
|
rs2115228915
|
|
NM_000288.4(PEX7):c.780T>C (p.Ser260=)
|
rs2115228945
|
|
NM_000288.4(PEX7):c.783C>T (p.Cys261=)
|
|
|
NM_000288.4(PEX7):c.789T>C (p.Tyr263=)
|
rs2115229029
|
|
NM_000288.4(PEX7):c.803+14dup
|
rs777087989
|
|
NM_000288.4(PEX7):c.803+20A>C
|
|
|
NM_000288.4(PEX7):c.803+9G>A
|
|
|
NM_000288.4(PEX7):c.803+9_803+10del
|
rs2115229196
|
|
NM_000288.4(PEX7):c.804-10A>G
|
|
|
NM_000288.4(PEX7):c.804-12T>C
|
|
|
NM_000288.4(PEX7):c.804-14A>G
|
|
|
NM_000288.4(PEX7):c.804-8C>G
|
rs2115272911
|
|
NM_000288.4(PEX7):c.804-9T>C
|
|
|
NM_000288.4(PEX7):c.813C>T (p.Asn271=)
|
rs2115272944
|
|
NM_000288.4(PEX7):c.81C>T (p.Tyr27=)
|
rs1057516737
|
|
NM_000288.4(PEX7):c.822G>A (p.Lys274=)
|
rs2115272962
|
|
NM_000288.4(PEX7):c.828C>T (p.Asp276=)
|
|
|
NM_000288.4(PEX7):c.84G>A (p.Leu28=)
|
rs1167579335
|
|
NM_000288.4(PEX7):c.84G>C (p.Leu28=)
|
|
|
NM_000288.4(PEX7):c.855T>C (p.His285=)
|
rs2115273033
|
|
NM_000288.4(PEX7):c.858A>G (p.Thr286=)
|
|
|
NM_000288.4(PEX7):c.861G>A (p.Glu287=)
|
|
|
NM_000288.4(PEX7):c.870T>C (p.Cys290=)
|
|
|
NM_000288.4(PEX7):c.876A>G (p.Leu292=)
|
|
|
NM_000288.4(PEX7):c.87G>A (p.Pro29=)
|
|
|
NM_000288.4(PEX7):c.87G>C (p.Pro29=)
|
|
|
NM_000288.4(PEX7):c.882C>T (p.Phe294=)
|
rs1775686747
|
|
NM_000288.4(PEX7):c.900T>A (p.Thr300=)
|
|
|
NM_000288.4(PEX7):c.903+10A>T
|
rs747530925
|
|
NM_000288.4(PEX7):c.903+12A>G
|
|
|
NM_000288.4(PEX7):c.903+20G>A
|
|
|
NM_000288.4(PEX7):c.903+7G>T
|
rs1227993935
|
|
NM_000288.4(PEX7):c.903+8A>T
|
|
|
NM_000288.4(PEX7):c.904-16C>T
|
|
|
NM_000288.4(PEX7):c.904-20_904-17del
|
|
|
NM_000288.4(PEX7):c.904-4C>G
|
rs1775964629
|
|
NM_000288.4(PEX7):c.904-9G>A
|
rs1175458353
|
|
NM_000288.4(PEX7):c.90C>A (p.Gly30=)
|
rs2115122724
|
|
NM_000288.4(PEX7):c.90C>T (p.Gly30=)
|
rs2115122724
|
|
NM_000288.4(PEX7):c.951T>C (p.Ala317=)
|
rs2115300178
|
|
NM_000288.4(PEX7):c.957T>C (p.Leu319=)
|
rs1275603952
|
|
NM_000288.4(PEX7):c.960T>C (p.Thr320=)
|
|
|
NM_000288.4(PEX7):c.960T>G (p.Thr320=)
|
|
|
NM_000288.4(PEX7):c.969T>A (p.Ala323=)
|
|
|
NM_000288.4(PEX7):c.9G>A (p.Ala3=)
|
rs1475959844
|
|
NM_000318.3(PEX2):c.*103C>G
|
rs529963492
|
|
NM_000318.3(PEX2):c.-17-41G>T
|
rs10957830
|
|
NM_000318.3(PEX2):c.108G>A (p.Gln36=)
|
rs113065004
|
|
NM_000318.3(PEX2):c.111T>C (p.Phe37=)
|
|
|
NM_000318.3(PEX2):c.114T>G (p.Thr38=)
|
rs2132044827
|
|
NM_000318.3(PEX2):c.120C>T (p.Cys40=)
|
rs1586070272
|
|
NM_000318.3(PEX2):c.123T>C (p.Phe41=)
|
|
|
NM_000318.3(PEX2):c.126T>C (p.His42=)
|
|
|
NM_000318.3(PEX2):c.12A>G (p.Arg4=)
|
|
|
NM_000318.3(PEX2):c.142C>T (p.Leu48=)
|
|
|
NM_000318.3(PEX2):c.144G>T (p.Leu48=)
|
|
|
NM_000318.3(PEX2):c.147A>G (p.Leu49=)
|
rs1257241388
|
|
NM_000318.3(PEX2):c.15A>G (p.Lys5=)
|
rs2132045059
|
|
NM_000318.3(PEX2):c.162A>C (p.Pro54=)
|
rs2132044722
|
|
NM_000318.3(PEX2):c.162A>G (p.Pro54=)
|
rs2132044722
|
|
NM_000318.3(PEX2):c.171A>G (p.Lys57=)
|
rs2132044697
|
|
NM_000318.3(PEX2):c.174G>C (p.Ala58=)
|
rs150987080
|
|
NM_000318.3(PEX2):c.18G>A (p.Glu6=)
|
rs2132045054
|
|
NM_000318.3(PEX2):c.190T>C (p.Leu64=)
|
|
|
NM_000318.3(PEX2):c.192G>A (p.Leu64=)
|
|
|
NM_000318.3(PEX2):c.198A>G (p.Arg66=)
|
rs2132044639
|
|
NM_000318.3(PEX2):c.201C>T (p.Phe67=)
|
|
|
NM_000318.3(PEX2):c.207C>A (p.Ile69=)
|
|
|
NM_000318.3(PEX2):c.21T>C (p.Asn7=)
|
|
|
NM_000318.3(PEX2):c.231A>G (p.Gly77=)
|
|
|
NM_000318.3(PEX2):c.234G>A (p.Gln78=)
|
|
|
NM_000318.3(PEX2):c.24G>T (p.Ala8=)
|
|
|
NM_000318.3(PEX2):c.285T>C (p.Tyr95=)
|
rs202204148
|
|
NM_000318.3(PEX2):c.312C>A (p.Ile104=)
|
rs1242924229
|
|
NM_000318.3(PEX2):c.324T>A (p.Val108=)
|
|
|
NM_000318.3(PEX2):c.342G>A (p.Arg114=)
|
rs778787558
|
|
NM_000318.3(PEX2):c.351A>G (p.Glu117=)
|
rs2132044225
|
|
NM_000318.3(PEX2):c.357A>C (p.Arg119=)
|
rs767740481
|
|
NM_000318.3(PEX2):c.369G>A (p.Leu123=)
|
|
|
NM_000318.3(PEX2):c.375A>G (p.Arg125=)
|
|
|
NM_000318.3(PEX2):c.381T>C (p.His127=)
|
rs1806915769
|
|
NM_000318.3(PEX2):c.384T>C (p.His128=)
|
|
|
NM_000318.3(PEX2):c.393A>G (p.Ser131=)
|
rs1407170162
|
|
NM_000318.3(PEX2):c.399G>A (p.Gly133=)
|
rs760342808
|
|
NM_000318.3(PEX2):c.402A>G (p.Lys134=)
|
rs953517125
|
|
NM_000318.3(PEX2):c.405C>A (p.Val135=)
|
|
|
NM_000318.3(PEX2):c.429T>A (p.Ile143=)
|
|
|
NM_000318.3(PEX2):c.436T>C (p.Leu146=)
|
rs2132044010
|
|
NM_000318.3(PEX2):c.43C>T (p.Leu15=)
|
|
|
NM_000318.3(PEX2):c.450G>T (p.Gly150=)
|
rs2132043975
|
|
NM_000318.3(PEX2):c.453G>A (p.Leu151=)
|
|
|
NM_000318.3(PEX2):c.45A>C (p.Leu15=)
|
|
|
NM_000318.3(PEX2):c.465G>A (p.Leu155=)
|
|
|
NM_000318.3(PEX2):c.489T>C (p.Phe163=)
|
|
|
NM_000318.3(PEX2):c.495T>A (p.Thr165=)
|
|
|
NM_000318.3(PEX2):c.495T>C (p.Thr165=)
|
|
|
NM_000318.3(PEX2):c.507T>A (p.Arg169=)
|
|
|
NM_000318.3(PEX2):c.511C>T (p.Leu171=)
|
|
|
NM_000318.3(PEX2):c.513A>G (p.Leu171=)
|
rs2132043808
|
|
NM_000318.3(PEX2):c.54C>T (p.Ser18=)
|
rs545785018
|
|
NM_000318.3(PEX2):c.555A>G (p.Glu185=)
|
|
|
NM_000318.3(PEX2):c.567A>G (p.Glu189=)
|
|
|
NM_000318.3(PEX2):c.57G>A (p.Gln19=)
|
rs2132044973
|
|
NM_000318.3(PEX2):c.585T>C (p.Leu195=)
|
|
|
NM_000318.3(PEX2):c.594T>C (p.His198=)
|
|
|
NM_000318.3(PEX2):c.600T>C (p.Phe200=)
|
|
|
NM_000318.3(PEX2):c.603T>C (p.Ala201=)
|
|
|
NM_000318.3(PEX2):c.621C>T (p.Leu207=)
|
|
|
NM_000318.3(PEX2):c.627A>G (p.Pro209=)
|
|
|
NM_000318.3(PEX2):c.639C>T (p.Val213=)
|
|
|
NM_000318.3(PEX2):c.63T>C (p.Asp21=)
|
|
|
NM_000318.3(PEX2):c.657G>A (p.Lys219=)
|
|
|
NM_000318.3(PEX2):c.678T>C (p.Pro226=)
|
rs2132043403
|
|
NM_000318.3(PEX2):c.681T>C (p.Leu227=)
|
|
|
NM_000318.3(PEX2):c.693T>A (p.Pro231=)
|
|
|
NM_000318.3(PEX2):c.693T>C (p.Pro231=)
|
|
|
NM_000318.3(PEX2):c.693T>G (p.Pro231=)
|
|
|
NM_000318.3(PEX2):c.69T>G (p.Leu23=)
|
|
|
NM_000318.3(PEX2):c.6T>C (p.Ala2=)
|
|
|
NM_000318.3(PEX2):c.708A>C (p.Thr236=)
|
|
|
NM_000318.3(PEX2):c.708A>G (p.Thr236=)
|
|
|
NM_000318.3(PEX2):c.717C>T (p.Thr239=)
|
rs2132043284
|
|
NM_000318.3(PEX2):c.720T>C (p.Ser240=)
|
rs914631161
|
|
NM_000318.3(PEX2):c.726A>G (p.Lys242=)
|
rs2132043260
|
|
NM_000318.3(PEX2):c.72A>G (p.Glu24=)
|
rs750660448
|
|
NM_000318.3(PEX2):c.735T>C (p.Ala245=)
|
|
|
NM_000318.3(PEX2):c.738A>T (p.Leu246=)
|
rs376101275
|
|
NM_000318.3(PEX2):c.73C>T (p.Leu25=)
|
rs1586070356
|
|
NM_000318.3(PEX2):c.756C>T (p.Thr252=)
|
|
|
NM_000318.3(PEX2):c.75A>G (p.Leu25=)
|
rs2132044926
|
|
NM_000318.3(PEX2):c.765C>T (p.His255=)
|
rs2132043163
|
|
NM_000318.3(PEX2):c.771A>T (p.Ile257=)
|
rs1586069200
|
|
NM_000318.3(PEX2):c.783T>C (p.His261=)
|
rs1586069185
|
|
NM_000318.3(PEX2):c.825C>T (p.Asp275=)
|
rs367649632
|
|
NM_000318.3(PEX2):c.828G>A (p.Val276=)
|
|
|
NM_000318.3(PEX2):c.831C>T (p.Tyr277=)
|
|
|
NM_000318.3(PEX2):c.834T>C (p.Phe278=)
|
|
|
NM_000318.3(PEX2):c.843T>C (p.Pro281=)
|
|
|
NM_000318.3(PEX2):c.855A>G (p.Thr285=)
|
rs1806891966
|
|
NM_000318.3(PEX2):c.858A>G (p.Glu286=)
|
|
|
NM_000318.3(PEX2):c.85C>T (p.Leu29=)
|
rs1277480138
|
|
NM_000318.3(PEX2):c.864C>T (p.His288=)
|
|
|
NM_000318.3(PEX2):c.868C>T (p.Leu290=)
|
rs2132042893
|
|
NM_000318.3(PEX2):c.885A>G (p.Ser295=)
|
rs886332712
|
|
NM_000318.3(PEX2):c.90G>A (p.Glu30=)
|
rs777639216
|
|
NM_000318.3(PEX2):c.912T>C (p.Ala304=)
|
rs1034467919
|
|
NM_000318.3(PEX2):c.94C>T (p.Leu32=)
|
|
|
NM_000318.3(PEX2):c.96A>G (p.Leu32=)
|
rs754405926
|
|
NM_000466.3(PEX1):c.1014A>G (p.Leu338=)
|
rs764541484
|
|
NM_000466.3(PEX1):c.102T>A (p.Arg34=)
|
rs2116298466
|
|
NM_000466.3(PEX1):c.1032G>A (p.Gln344=)
|
|
|
NM_000466.3(PEX1):c.1035A>G (p.Gln345=)
|
|
|
NM_000466.3(PEX1):c.1038T>C (p.Ser346=)
|
|
|
NM_000466.3(PEX1):c.1056G>A (p.Val352=)
|
rs1348024001
|
|
NM_000466.3(PEX1):c.105C>G (p.Leu35=)
|
rs975387176
|
|
NM_000466.3(PEX1):c.105C>T (p.Leu35=)
|
|
|
NM_000466.3(PEX1):c.1074G>A (p.Glu358=)
|
|
|
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn)
|
rs138905930
|
|
NM_000466.3(PEX1):c.1086A>C (p.Ser362=)
|
|
|
NM_000466.3(PEX1):c.1092A>G (p.Pro364=)
|
rs2116243378
|
|
NM_000466.3(PEX1):c.1116A>G (p.Ser372=)
|
|
|
NM_000466.3(PEX1):c.1125T>C (p.Asn375=)
|
rs1585254314
|
|
NM_000466.3(PEX1):c.1142C>G (p.Ala381Gly)
|
|
|
NM_000466.3(PEX1):c.1152A>G (p.Leu384=)
|
rs776933950
|
|
NM_000466.3(PEX1):c.1161C>A (p.Val387=)
|
|
|
NM_000466.3(PEX1):c.1170A>G (p.Gly390=)
|
|
|
NM_000466.3(PEX1):c.1180T>C (p.Leu394=)
|
rs1202226565
|
|
NM_000466.3(PEX1):c.1185C>T (p.Asn395=)
|
|
|
NM_000466.3(PEX1):c.1218T>C (p.Val406=)
|
rs2116242424
|
|
NM_000466.3(PEX1):c.1224T>C (p.His408=)
|
rs745690908
|
|
NM_000466.3(PEX1):c.1230G>A (p.Gly410=)
|
rs539382251
|
|
NM_000466.3(PEX1):c.1239+10A>C
|
rs2116242233
|
|
NM_000466.3(PEX1):c.1239+10A>G
|
|
|
NM_000466.3(PEX1):c.1239+11A>G
|
|
|
NM_000466.3(PEX1):c.1239+11del
|
rs764454264
|
|
NM_000466.3(PEX1):c.1239+17T>A
|
|
|
NM_000466.3(PEX1):c.1239+17T>C
|
|
|
NM_000466.3(PEX1):c.1239+8T>C
|
|
|
NM_000466.3(PEX1):c.1240-15A>G
|
|
|
NM_000466.3(PEX1):c.1240-19_1240-16del
|
rs1218585650
|
|
NM_000466.3(PEX1):c.1240-20T>G
|
rs1792604603
|
|
NM_000466.3(PEX1):c.1240-7A>C
|
rs1226446593
|
|
NM_000466.3(PEX1):c.1245A>G (p.Pro415=)
|
|
|
NM_000466.3(PEX1):c.124C>T (p.Leu42=)
|
rs2116298363
|
|
NM_000466.3(PEX1):c.1251C>T (p.Asp417=)
|
rs1458830864
|
|
NM_000466.3(PEX1):c.1264C>T (p.Leu422=)
|
|
|
NM_000466.3(PEX1):c.1266A>C (p.Leu422=)
|
|
|
NM_000466.3(PEX1):c.1284C>A (p.Ala428=)
|
|
|
NM_000466.3(PEX1):c.129+10C>G
|
rs886062508
|
|
NM_000466.3(PEX1):c.129+10C>T
|
rs886062508
|
|
NM_000466.3(PEX1):c.129+11G>A
|
|
|
NM_000466.3(PEX1):c.129+13C>T
|
|
|
NM_000466.3(PEX1):c.129+16C>T
|
|
|
NM_000466.3(PEX1):c.129+17G>A
|
|
|
NM_000466.3(PEX1):c.129+18A>G
|
|
|
NM_000466.3(PEX1):c.129+7T>C
|
rs765006313
|
|
NM_000466.3(PEX1):c.129+8G>A
|
rs1793393956
|
|
NM_000466.3(PEX1):c.1290C>A (p.Val430=)
|
rs1230907353
|
|
NM_000466.3(PEX1):c.1290C>G (p.Val430=)
|
rs1230907353
|
|
NM_000466.3(PEX1):c.1290C>T (p.Val430=)
|
|
|
NM_000466.3(PEX1):c.12C>T (p.Ser4=)
|
rs1793405237
|
|
NM_000466.3(PEX1):c.130-10A>G
|
|
|
NM_000466.3(PEX1):c.130-15_130-7dup
|
rs2116268826
|
|
NM_000466.3(PEX1):c.130-17A>G
|
rs1206974534
|
|
NM_000466.3(PEX1):c.130-20C>G
|
|
|
NM_000466.3(PEX1):c.130-4A>G
|
|
|
NM_000466.3(PEX1):c.130-5A>C
|
rs764946946
|
|
NM_000466.3(PEX1):c.130-7T>C
|
|
|
NM_000466.3(PEX1):c.1314C>T (p.Thr438=)
|
|
|
NM_000466.3(PEX1):c.1326A>G (p.Pro442=)
|
|
|
NM_000466.3(PEX1):c.1333C>T (p.Leu445=)
|
rs1358993243
|
|
NM_000466.3(PEX1):c.1335A>G (p.Leu445=)
|
|
|
NM_000466.3(PEX1):c.1338G>A (p.Lys446=)
|
rs543863652
|
|
NM_000466.3(PEX1):c.1347T>C (p.Pro449=)
|
rs1476938711
|
|
NM_000466.3(PEX1):c.1347T>G (p.Pro449=)
|
rs1476938711
|
|
NM_000466.3(PEX1):c.1359+11AT[3]
|
|
|
NM_000466.3(PEX1):c.1359+13A>G
|
|
|
NM_000466.3(PEX1):c.1359+14T>C
|
|
|
NM_000466.3(PEX1):c.1359+17A>G
|
|
|
NM_000466.3(PEX1):c.1360-4G>A
|
rs199716270
|
|
NM_000466.3(PEX1):c.1360-5G>C
|
rs2116209932
|
|
NM_000466.3(PEX1):c.1360-8T>C
|
|
|
NM_000466.3(PEX1):c.1365A>G (p.Lys455=)
|
rs1792475306
|
|
NM_000466.3(PEX1):c.1377A>G (p.Glu459=)
|
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.1401T>C (p.Tyr467=)
|
rs1792473177
|
|
NM_000466.3(PEX1):c.1410A>G (p.Leu470=)
|
rs1441446202
|
|
NM_000466.3(PEX1):c.1413G>A (p.Gln471=)
|
rs1354951609
|
|
NM_000466.3(PEX1):c.141A>C (p.Ile47=)
|
|
|
NM_000466.3(PEX1):c.1422T>C (p.Thr474=)
|
rs1792471058
|
|
NM_000466.3(PEX1):c.1428C>A (p.Thr476=)
|
|
|
NM_000466.3(PEX1):c.1428C>T (p.Thr476=)
|
|
|
NM_000466.3(PEX1):c.1434T>G (p.Leu478=)
|
rs757668497
|
|
NM_000466.3(PEX1):c.1437T>A (p.Pro479=)
|
|
|
NM_000466.3(PEX1):c.1437T>G (p.Pro479=)
|
|
|
NM_000466.3(PEX1):c.1455A>G (p.Glu485=)
|
|
|
NM_000466.3(PEX1):c.1473A>G (p.Glu491=)
|
|
|
NM_000466.3(PEX1):c.1476T>G (p.Thr492=)
|
rs1792468652
|
|
NM_000466.3(PEX1):c.1483+18T>A
|
|
|
NM_000466.3(PEX1):c.1483+18T>G
|
|
|
NM_000466.3(PEX1):c.1483+9A>C
|
rs2116209200
|
|
NM_000466.3(PEX1):c.1483+9del
|
|
|
NM_000466.3(PEX1):c.1484-10T>G
|
|
|
NM_000466.3(PEX1):c.1484-11C>A
|
|
|
NM_000466.3(PEX1):c.1484-4A>T
|
|
|
NM_000466.3(PEX1):c.1484-7T>G
|
|
|
NM_000466.3(PEX1):c.1501C>T (p.Leu501=)
|
|
|
NM_000466.3(PEX1):c.1503G>C (p.Leu501=)
|
|
|
NM_000466.3(PEX1):c.1518T>C (p.Ser506=)
|
rs756375656
|
|
NM_000466.3(PEX1):c.1524A>G (p.Glu508=)
|
rs2116205422
|
|
NM_000466.3(PEX1):c.1539A>G (p.Lys513=)
|
|
|
NM_000466.3(PEX1):c.1552T>C (p.Leu518=)
|
rs2116205269
|
|
NM_000466.3(PEX1):c.1554G>A (p.Leu518=)
|
|
|
NM_000466.3(PEX1):c.156T>C (p.Ser52=)
|
rs1793079717
|
|
NM_000466.3(PEX1):c.1581A>C (p.Thr527=)
|
rs2116205071
|
|
NM_000466.3(PEX1):c.1581A>G (p.Thr527=)
|
|
|
NM_000466.3(PEX1):c.1587+12T>C
|
|
|
NM_000466.3(PEX1):c.1587+15T>C
|
|
|
NM_000466.3(PEX1):c.1587+16T>C
|
|
|
NM_000466.3(PEX1):c.1587+8C>G
|
rs2116204929
|
|
NM_000466.3(PEX1):c.1588-14C>T
|
rs2116195353
|
|
NM_000466.3(PEX1):c.1588-16T>C
|
|
|
NM_000466.3(PEX1):c.1588-4G>A
|
|
|
NM_000466.3(PEX1):c.1590C>A (p.Val530=)
|
|
|
NM_000466.3(PEX1):c.1611A>G (p.Lys537=)
|
rs1209882593
|
|
NM_000466.3(PEX1):c.1670+10T>C
|
|
|
NM_000466.3(PEX1):c.1670+10T>G
|
|
|
NM_000466.3(PEX1):c.1670+12T>C
|
|
|
NM_000466.3(PEX1):c.1670+16C>T
|
|
|
NM_000466.3(PEX1):c.1670+20C>G
|
|
|
NM_000466.3(PEX1):c.1671-11A>G
|
|
|
NM_000466.3(PEX1):c.1671-12T>C
|
|
|
NM_000466.3(PEX1):c.1671-15_1671-12del
|
|
|
NM_000466.3(PEX1):c.1671-17A>G
|
|
|
NM_000466.3(PEX1):c.1686A>G (p.Leu562=)
|
rs2116181786
|
|
NM_000466.3(PEX1):c.168A>G (p.Ala56=)
|
|
|
NM_000466.3(PEX1):c.1698C>T (p.Ser566=)
|
rs2116181641
|
|
NM_000466.3(PEX1):c.1704G>A (p.Glu568=)
|
rs1792229068
|
|
NM_000466.3(PEX1):c.1707C>T (p.His569=)
|
|
|
NM_000466.3(PEX1):c.1713T>C (p.Thr571=)
|
|
|
NM_000466.3(PEX1):c.1716C>T (p.His572=)
|
rs1792228135
|
|
NM_000466.3(PEX1):c.1719C>T (p.Ser573=)
|
rs2116181405
|
|
NM_000466.3(PEX1):c.171C>T (p.Phe57=)
|
rs2116268508
|
|
NM_000466.3(PEX1):c.1731C>A (p.Arg577=)
|
|
|
NM_000466.3(PEX1):c.1731C>G (p.Arg577=)
|
rs2116181294
|
|
NM_000466.3(PEX1):c.1734T>A (p.Pro578=)
|
|
|
NM_000466.3(PEX1):c.1746G>A (p.Gln582=)
|
rs750015247
|
|
NM_000466.3(PEX1):c.174G>A (p.Leu58=)
|
|
|
NM_000466.3(PEX1):c.1773G>A (p.Arg591=)
|
rs2116180929
|
|
NM_000466.3(PEX1):c.1776T>C (p.Asn592=)
|
|
|
NM_000466.3(PEX1):c.177C>T (p.Ser59=)
|
|
|
NM_000466.3(PEX1):c.1791C>G (p.Leu597=)
|
|
|
NM_000466.3(PEX1):c.1800A>G (p.Gly600=)
|
|
|
NM_000466.3(PEX1):c.1803+14G>T
|
|
|
NM_000466.3(PEX1):c.1803+20T>G
|
|
|
NM_000466.3(PEX1):c.1804-12A>C
|
|
|
NM_000466.3(PEX1):c.1804-12A>G
|
rs143041528
|
|
NM_000466.3(PEX1):c.1804-13A>C
|
|
|
NM_000466.3(PEX1):c.1804-15G>C
|
|
|
NM_000466.3(PEX1):c.1804-16A>G
|
|
|
NM_000466.3(PEX1):c.1804-7T>G
|
rs1171558935
|
|
NM_000466.3(PEX1):c.1833A>C (p.Ala611=)
|
rs2116176396
|
|
NM_000466.3(PEX1):c.1833A>G (p.Ala611=)
|
rs2116176396
|
|
NM_000466.3(PEX1):c.1851T>C (p.Phe617=)
|
rs762766482
|
|
NM_000466.3(PEX1):c.1857A>G (p.Lys619=)
|
rs1393403749
|
|
NM_000466.3(PEX1):c.1869T>C (p.His623=)
|
|
|
NM_000466.3(PEX1):c.1878A>G (p.Arg626=)
|
rs1792182837
|
|
NM_000466.3(PEX1):c.1884C>T (p.Asp628=)
|
rs1345707685
|
|
NM_000466.3(PEX1):c.1900+10T>C
|
|
|
NM_000466.3(PEX1):c.1900+10T>G
|
rs2116175750
|
|
NM_000466.3(PEX1):c.1900+12G>A
|
|
|
NM_000466.3(PEX1):c.1900+13dup
|
|
|
NM_000466.3(PEX1):c.1900+17_1900+20del
|
|
|
NM_000466.3(PEX1):c.1900+18C>T
|
|
|
NM_000466.3(PEX1):c.1901-14T>C
|
rs1792111444
|
|
NM_000466.3(PEX1):c.1901-17A>G
|
|
|
NM_000466.3(PEX1):c.1901-4T>C
|
rs2116166425
|
|
NM_000466.3(PEX1):c.1901-7T>C
|
|
|
NM_000466.3(PEX1):c.1929C>A (p.Thr643=)
|
rs772780510
|
|
NM_000466.3(PEX1):c.1929C>T (p.Thr643=)
|
|
|
NM_000466.3(PEX1):c.1930C>T (p.Leu644=)
|
rs1168758164
|
|
NM_000466.3(PEX1):c.1935G>A (p.Glu645=)
|
|
|
NM_000466.3(PEX1):c.1947A>G (p.Ser649=)
|
|
|
NM_000466.3(PEX1):c.1956G>A (p.Val652=)
|
|
|
NM_000466.3(PEX1):c.1968A>C (p.Pro656=)
|
|
|
NM_000466.3(PEX1):c.1977C>T (p.Val659=)
|
rs2116165660
|
|
NM_000466.3(PEX1):c.1989C>T (p.Asp663=)
|
rs2116165541
|
|
NM_000466.3(PEX1):c.198T>C (p.Phe66=)
|
|
|
NM_000466.3(PEX1):c.1992T>C (p.Leu664=)
|
|
|
NM_000466.3(PEX1):c.19C>T (p.Leu7=)
|
|
|
NM_000466.3(PEX1):c.2007A>T (p.Gly669=)
|
|
|
NM_000466.3(PEX1):c.2010G>A (p.Leu670=)
|
rs921615253
|
|
NM_000466.3(PEX1):c.2010G>C (p.Leu670=)
|
|
|
NM_000466.3(PEX1):c.2019C>A (p.Val673=)
|
rs368345209
|
|
NM_000466.3(PEX1):c.2019C>T (p.Val673=)
|
rs368345209
|
|
NM_000466.3(PEX1):c.2022G>A (p.Pro674=)
|
|
|
NM_000466.3(PEX1):c.2022G>C (p.Pro674=)
|
|
|
NM_000466.3(PEX1):c.2037T>C (p.Ser679=)
|
|
|
NM_000466.3(PEX1):c.2046G>C (p.Ala682=)
|
|
|
NM_000466.3(PEX1):c.2046G>T (p.Ala682=)
|
rs144845259
|
|
NM_000466.3(PEX1):c.2049G>A (p.Val683=)
|
rs769221282
|
|
NM_000466.3(PEX1):c.2059C>A (p.Arg687=)
|
rs138008298
|
|
NM_000466.3(PEX1):c.2067T>G (p.Ala689=)
|
rs2116164733
|
|
NM_000466.3(PEX1):c.2071+11C>T
|
|
|
NM_000466.3(PEX1):c.2071+12C>T
|
|
|
NM_000466.3(PEX1):c.2071+14C>A
|
|
|
NM_000466.3(PEX1):c.2071+14C>T
|
|
|
NM_000466.3(PEX1):c.2071+15C>T
|
|
|
NM_000466.3(PEX1):c.2071+17C>T
|
|
|
NM_000466.3(PEX1):c.2071+9A>G
|
rs2116164620
|
|
NM_000466.3(PEX1):c.2072-18T>C
|
|
|
NM_000466.3(PEX1):c.2072-4C>T
|
rs1792019918
|
|
NM_000466.3(PEX1):c.2072-8A>C
|
rs2116156411
|
|
NM_000466.3(PEX1):c.2072-8A>G
|
|
|
NM_000466.3(PEX1):c.2094G>A (p.Glu698=)
|
rs2116156123
|
|
NM_000466.3(PEX1):c.2115G>A (p.Leu705=)
|
|
|
NM_000466.3(PEX1):c.2122C>T (p.Leu708=)
|
|
|
NM_000466.3(PEX1):c.2148A>G (p.Gln716=)
|
rs753358124
|
|
NM_000466.3(PEX1):c.2154A>T (p.Leu718=)
|
|
|
NM_000466.3(PEX1):c.2187C>T (p.His729=)
|
rs915908576
|
|
NM_000466.3(PEX1):c.2199C>T (p.Cys733=)
|
|
|
NM_000466.3(PEX1):c.21G>A (p.Leu7=)
|
|
|
NM_000466.3(PEX1):c.2202C>T (p.Val734=)
|
|
|
NM_000466.3(PEX1):c.2205A>G (p.Gln735=)
|
rs201308230
|
|
NM_000466.3(PEX1):c.2208C>T (p.His736=)
|
rs1411832129
|
|
NM_000466.3(PEX1):c.2220T>G (p.Pro740=)
|
rs2116155243
|
|
NM_000466.3(PEX1):c.2226+12C>T
|
|
|
NM_000466.3(PEX1):c.2226+7C>A
|
rs371347250
|
|
NM_000466.3(PEX1):c.2226+7C>T
|
|
|
NM_000466.3(PEX1):c.2226+8A>G
|
rs772716358
|
|
NM_000466.3(PEX1):c.2226+9C>G
|
rs2116155119
|
|
NM_000466.3(PEX1):c.2227-13T>G
|
rs2116149539
|
|
NM_000466.3(PEX1):c.2227-14G>T
|
rs1791958426
|
|
NM_000466.3(PEX1):c.2227-4T>C
|
rs2116149447
|
|
NM_000466.3(PEX1):c.2227-4T>G
|
|
|
NM_000466.3(PEX1):c.2229A>G (p.Glu743=)
|
rs2116149390
|
|
NM_000466.3(PEX1):c.2241A>G (p.Glu747=)
|
rs2116149299
|
|
NM_000466.3(PEX1):c.2253T>C (p.Asn751=)
|
rs769925670
|
|
NM_000466.3(PEX1):c.2256A>G (p.Val752=)
|
|
|
NM_000466.3(PEX1):c.2292C>T (p.Phe764=)
|
|
|
NM_000466.3(PEX1):c.2298T>C (p.Asp766=)
|
rs1585231825
|
|
NM_000466.3(PEX1):c.2310G>A (p.Gln770=)
|
|
|
NM_000466.3(PEX1):c.2313T>C (p.His771=)
|
rs763463570
|
|
NM_000466.3(PEX1):c.232A>C (p.Arg78=)
|
|
|
NM_000466.3(PEX1):c.2334G>A (p.Gly778=)
|
|
|
NM_000466.3(PEX1):c.2334G>T (p.Gly778=)
|
|
|
NM_000466.3(PEX1):c.2349T>C (p.Asp783=)
|
rs2116148406
|
|
NM_000466.3(PEX1):c.2364G>A (p.Val788=)
|
|
|
NM_000466.3(PEX1):c.2397G>A (p.Gln799=)
|
|
|
NM_000466.3(PEX1):c.2409C>T (p.Thr803=)
|
rs1585231525
|
|
NM_000466.3(PEX1):c.2412A>G (p.Arg804=)
|
rs1362565257
|
|
NM_000466.3(PEX1):c.2416+13A>G
|
|
|
NM_000466.3(PEX1):c.2416+20C>A
|
rs886038302
|
|
NM_000466.3(PEX1):c.2417-10T>A
|
|
|
NM_000466.3(PEX1):c.2417-16_2417-13del
|
rs1350018099
|
|
NM_000466.3(PEX1):c.2417-20T>G
|
|
|
NM_000466.3(PEX1):c.2418A>G (p.Lys806=)
|
|
|
NM_000466.3(PEX1):c.2425T>C (p.Leu809=)
|
|
|
NM_000466.3(PEX1):c.2433A>G (p.Thr811=)
|
|
|
NM_000466.3(PEX1):c.2434T>C (p.Leu812=)
|
|
|
NM_000466.3(PEX1):c.2469T>G (p.Pro823=)
|
rs1562853565
|
|
NM_000466.3(PEX1):c.2472G>A (p.Ala824=)
|
rs764437476
|
|
NM_000466.3(PEX1):c.2490C>T (p.Asn830=)
|
|
|
NM_000466.3(PEX1):c.2491C>T (p.Leu831=)
|
rs2116145518
|
|
NM_000466.3(PEX1):c.24G>T (p.Ala8=)
|
rs1334167324
|
|
NM_000466.3(PEX1):c.252T>C (p.Leu84=)
|
rs774698687
|
|
NM_000466.3(PEX1):c.252T>G (p.Leu84=)
|
rs774698687
|
|
NM_000466.3(PEX1):c.2532G>A (p.Gly844=)
|
|
|
NM_000466.3(PEX1):c.2533T>C (p.Leu845=)
|
rs1585230931
|
|
NM_000466.3(PEX1):c.2538T>C (p.His846=)
|
rs2116145185
|
|
NM_000466.3(PEX1):c.2541A>G (p.Glu847=)
|
rs1585230922
|
|
NM_000466.3(PEX1):c.2550G>A (p.Gln850=)
|
rs2116145108
|
|
NM_000466.3(PEX1):c.2553A>C (p.Ile851=)
|
rs2116145089
|
|
NM_000466.3(PEX1):c.2556C>T (p.Leu852=)
|
|
|
NM_000466.3(PEX1):c.2565T>G (p.Thr855=)
|
rs1472376635
|
|
NM_000466.3(PEX1):c.2583+12A>G
|
|
|
NM_000466.3(PEX1):c.2583+13A>T
|
|
|
NM_000466.3(PEX1):c.2583+14A>T
|
|
|
NM_000466.3(PEX1):c.2583+15A>C
|
|
|
NM_000466.3(PEX1):c.2583+20A>G
|
|
|
NM_000466.3(PEX1):c.2583+9A>T
|
rs1007607739
|
|
NM_000466.3(PEX1):c.2584-10T>C
|
rs375129444
|
|
NM_000466.3(PEX1):c.2584-11T>G
|
rs1443608242
|
|
NM_000466.3(PEX1):c.2584-22_2584-19del
|
rs2116133655
|
|
NM_000466.3(PEX1):c.2584-6del
|
rs745621383
|
|
NM_000466.3(PEX1):c.2586T>C (p.Tyr862=)
|
rs2116133214
|
|
NM_000466.3(PEX1):c.2589A>G (p.Pro863=)
|
rs2116133200
|
|
NM_000466.3(PEX1):c.258C>G (p.Leu86=)
|
|
|
NM_000466.3(PEX1):c.258C>T (p.Leu86=)
|
|
|
NM_000466.3(PEX1):c.2604C>T (p.Asn868=)
|
|
|
NM_000466.3(PEX1):c.2614C>A (p.Arg872=)
|
rs61750422
|
|
NM_000466.3(PEX1):c.2634G>A (p.Leu878=)
|
rs1193232549
|
|
NM_000466.3(PEX1):c.2646G>C (p.Pro882=)
|
rs775421085
|
|
NM_000466.3(PEX1):c.2646G>T (p.Pro882=)
|
rs775421085
|
|
NM_000466.3(PEX1):c.2676G>A (p.Gly892=)
|
|
|
NM_000466.3(PEX1):c.2676G>C (p.Gly892=)
|
|
|
NM_000466.3(PEX1):c.2679A>G (p.Val893=)
|
|
|
NM_000466.3(PEX1):c.2706T>C (p.Phe902=)
|
rs2116132336
|
|
NM_000466.3(PEX1):c.2712T>C (p.Ser904=)
|
|
|
NM_000466.3(PEX1):c.2718+10C>T
|
|
|
NM_000466.3(PEX1):c.2718+13_2718+16del
|
rs772364058
|
|
NM_000466.3(PEX1):c.2719-14dup
|
rs2116111355
|
|
NM_000466.3(PEX1):c.2719-15dup
|
|
|
NM_000466.3(PEX1):c.2719-17C>T
|
rs916738277
|
|
NM_000466.3(PEX1):c.2719-18T>A
|
|
|
NM_000466.3(PEX1):c.2719-5A>G
|
|
|
NM_000466.3(PEX1):c.2719-6C>T
|
rs2116111275
|
|
NM_000466.3(PEX1):c.2721G>A (p.Gly907=)
|
|
|
NM_000466.3(PEX1):c.2727G>A (p.Glu909=)
|
|
|
NM_000466.3(PEX1):c.273+10T>C
|
rs1793073947
|
|
NM_000466.3(PEX1):c.273+11G>C
|
|
|
NM_000466.3(PEX1):c.273+20A>G
|
|
|
NM_000466.3(PEX1):c.273+4_273+7dup
|
|
|
NM_000466.3(PEX1):c.273+8C>A
|
rs2116268020
|
|
NM_000466.3(PEX1):c.273+9A>G
|
rs1585260775
|
|
NM_000466.3(PEX1):c.274-11A>T
|
|
|
NM_000466.3(PEX1):c.274-13T>G
|
|
|
NM_000466.3(PEX1):c.2766T>C (p.Val922=)
|
|
|
NM_000466.3(PEX1):c.2766T>G (p.Val922=)
|
rs2116110796
|
|
NM_000466.3(PEX1):c.276A>T (p.Val92=)
|
|
|
NM_000466.3(PEX1):c.2772T>C (p.Asp924=)
|
|
|
NM_000466.3(PEX1):c.2783+10C>A
|
rs766160850
|
|
NM_000466.3(PEX1):c.2783+18G>A
|
|
|
NM_000466.3(PEX1):c.2783+20T>G
|
|
|
NM_000466.3(PEX1):c.2783+7A>T
|
rs1791669532
|
|
NM_000466.3(PEX1):c.2783+8G>A
|
rs2116110600
|
|
NM_000466.3(PEX1):c.2783+9C>T
|
|
|
NM_000466.3(PEX1):c.2784-15G>A
|
|
|
NM_000466.3(PEX1):c.2784-15_2784-13del
|
rs1432413300
|
|
NM_000466.3(PEX1):c.2784-5C>T
|
|
|
NM_000466.3(PEX1):c.2784-6T>C
|
|
|
NM_000466.3(PEX1):c.2784-7T>C
|
rs777893142
|
|
NM_000466.3(PEX1):c.2784-9T>C
|
|
|
NM_000466.3(PEX1):c.2793T>C (p.Ala931=)
|
rs2116095814
|
|
NM_000466.3(PEX1):c.2799G>A (p.Lys933=)
|
|
|
NM_000466.3(PEX1):c.2802C>G (p.Pro934=)
|
rs2116095731
|
|
NM_000466.3(PEX1):c.2817T>C (p.Phe939=)
|
|
|
NM_000466.3(PEX1):c.2820T>C (p.Asp940=)
|
rs2116095539
|
|
NM_000466.3(PEX1):c.2823A>G (p.Glu941=)
|
rs1585221444
|
|
NM_000466.3(PEX1):c.2832C>T (p.Ser944=)
|
|
|
NM_000466.3(PEX1):c.2841T>C (p.Pro947=)
|
rs2116095239
|
|
NM_000466.3(PEX1):c.2844G>T (p.Arg948=)
|
|
|
NM_000466.3(PEX1):c.2847G>T (p.Arg949=)
|
|
|
NM_000466.3(PEX1):c.2859T>C (p.Asn953=)
|
rs1554368757
|
|
NM_000466.3(PEX1):c.285G>A (p.Lys95=)
|
|
|
NM_000466.3(PEX1):c.2862A>G (p.Thr954=)
|
rs774719262
|
|
NM_000466.3(PEX1):c.2862A>T (p.Thr954=)
|
|
|
NM_000466.3(PEX1):c.2886C>T (p.Asn962=)
|
rs2116094397
|
|
NM_000466.3(PEX1):c.288A>G (p.Pro96=)
|
|
|
NM_000466.3(PEX1):c.2895G>A (p.Leu965=)
|
|
|
NM_000466.3(PEX1):c.2902T>C (p.Leu968=)
|
rs933191144
|
|
NM_000466.3(PEX1):c.2910A>T (p.Gly970=)
|
|
|
NM_000466.3(PEX1):c.2913A>T (p.Val971=)
|
rs2116094067
|
|
NM_000466.3(PEX1):c.2919C>G (p.Gly973=)
|
|
|
NM_000466.3(PEX1):c.2926+11T>C
|
|
|
NM_000466.3(PEX1):c.2926+12A>G
|
|
|
NM_000466.3(PEX1):c.2926+13_2926+16del
|
|
|
NM_000466.3(PEX1):c.2926+9T>C
|
|
|
NM_000466.3(PEX1):c.2927-10T>A
|
rs2116092636
|
|
NM_000466.3(PEX1):c.2927-14_2927-12del
|
|
|
NM_000466.3(PEX1):c.2927-17G>A
|
|
|
NM_000466.3(PEX1):c.2927-17G>C
|
|
|
NM_000466.3(PEX1):c.2927-18T>A
|
|
|
NM_000466.3(PEX1):c.2927-4C>G
|
|
|
NM_000466.3(PEX1):c.2927-4C>T
|
rs1033915282
|
|
NM_000466.3(PEX1):c.2927-7C>A
|
rs1585220765
|
|
NM_000466.3(PEX1):c.2927-9T>C
|
|
|
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr)
|
rs566068815
|
|
NM_000466.3(PEX1):c.2943T>A (p.Ala981=)
|
|
|
NM_000466.3(PEX1):c.2949T>C (p.Thr983=)
|
|
|
NM_000466.3(PEX1):c.2967T>C (p.Ile989=)
|
|
|
NM_000466.3(PEX1):c.2973T>C (p.Pro991=)
|
|
|
NM_000466.3(PEX1):c.2979G>A (p.Leu993=)
|
rs768697489
|
|
NM_000466.3(PEX1):c.2985G>A (p.Arg995=)
|
|
|
NM_000466.3(PEX1):c.2992C>A (p.Arg998=)
|
rs61750428
|
|
NM_000466.3(PEX1):c.3030+10T>A
|
|
|
NM_000466.3(PEX1):c.3030+13T>C
|
|
|
NM_000466.3(PEX1):c.3030+15T>C
|
|
|
NM_000466.3(PEX1):c.3030+16T>G
|
rs1442744769
|
|
NM_000466.3(PEX1):c.3031-16A>T
|
|
|
NM_000466.3(PEX1):c.3031-7C>T
|
|
|
NM_000466.3(PEX1):c.3031-9T>C
|
rs113162185
|
|
NM_000466.3(PEX1):c.3031-9T>G
|
rs113162185
|
|
NM_000466.3(PEX1):c.303A>G (p.Val101=)
|
|
|
NM_000466.3(PEX1):c.3048T>C (p.Ile1016=)
|
|
|
NM_000466.3(PEX1):c.3054T>C (p.Asn1018=)
|
|
|
NM_000466.3(PEX1):c.3057C>T (p.Val1019=)
|
rs1276724578
|
|
NM_000466.3(PEX1):c.3060C>T (p.Leu1020=)
|
rs2116079036
|
|
NM_000466.3(PEX1):c.3069T>C (p.Ser1023=)
|
|
|
NM_000466.3(PEX1):c.3070C>T (p.Leu1024=)
|
|
|
NM_000466.3(PEX1):c.3076C>T (p.Leu1026=)
|
|
|
NM_000466.3(PEX1):c.309T>C (p.Cys103=)
|
rs575737926
|
|
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=)
|
rs1030151030
|
|
NM_000466.3(PEX1):c.3111A>T (p.Ser1037=)
|
|
|
NM_000466.3(PEX1):c.3117T>C (p.Thr1039=)
|
|
|
NM_000466.3(PEX1):c.3120C>T (p.Asp1040=)
|
rs2116078096
|
|
NM_000466.3(PEX1):c.3123C>T (p.Ser1041=)
|
|
|
NM_000466.3(PEX1):c.3129T>C (p.Thr1043=)
|
rs374905629
|
|
NM_000466.3(PEX1):c.3129T>G (p.Thr1043=)
|
rs374905629
|
|
NM_000466.3(PEX1):c.3132A>C (p.Gly1044=)
|
|
|
NM_000466.3(PEX1):c.3153T>G (p.Leu1051=)
|
rs2116077487
|
|
NM_000466.3(PEX1):c.3174C>T (p.Ala1058=)
|
rs2116077059
|
|
NM_000466.3(PEX1):c.3189G>T (p.Leu1063=)
|
rs2116076833
|
|
NM_000466.3(PEX1):c.3195G>C (p.Ser1065=)
|
|
|
NM_000466.3(PEX1):c.3195G>T (p.Ser1065=)
|
rs768417678
|
|
NM_000466.3(PEX1):c.3204C>T (p.Leu1068=)
|
rs775109675
|
|
NM_000466.3(PEX1):c.3207+11T>C
|
|
|
NM_000466.3(PEX1):c.3207+14G>C
|
|
|
NM_000466.3(PEX1):c.3207+14G>T
|
rs1456695265
|
|
NM_000466.3(PEX1):c.3207+8A>T
|
|
|
NM_000466.3(PEX1):c.3208-19G>A
|
|
|
NM_000466.3(PEX1):c.3208-9G>A
|
rs1381356182
|
|
NM_000466.3(PEX1):c.3228T>C (p.Asp1076=)
|
|
|
NM_000466.3(PEX1):c.3235C>T (p.Leu1079=)
|
rs770075964
|
|
NM_000466.3(PEX1):c.3241C>T (p.Leu1081=)
|
|
|
NM_000466.3(PEX1):c.3249A>G (p.Ser1083=)
|
|
|
NM_000466.3(PEX1):c.3267T>C (p.His1089=)
|
|
|
NM_000466.3(PEX1):c.3270C>T (p.Ser1090=)
|
|
|
NM_000466.3(PEX1):c.3273T>C (p.Ser1091=)
|
rs2116059800
|
|
NM_000466.3(PEX1):c.3321C>T (p.Ser1107=)
|
|
|
NM_000466.3(PEX1):c.3324T>C (p.Leu1108=)
|
rs2116058719
|
|
NM_000466.3(PEX1):c.3330T>C (p.Ser1110=)
|
rs2116058613
|
|
NM_000466.3(PEX1):c.3330T>G (p.Ser1110=)
|
|
|
NM_000466.3(PEX1):c.333C>G (p.Leu111=)
|
rs2116253163
|
|
NM_000466.3(PEX1):c.3342C>T (p.Ser1114=)
|
rs1248223186
|
|
NM_000466.3(PEX1):c.3351T>C (p.Leu1117=)
|
rs2116058345
|
|
NM_000466.3(PEX1):c.3354A>C (p.Pro1118=)
|
|
|
NM_000466.3(PEX1):c.3360A>G (p.Glu1120=)
|
|
|
NM_000466.3(PEX1):c.336A>G (p.Ser112=)
|
rs1240957002
|
|
NM_000466.3(PEX1):c.3378C>T (p.Tyr1126=)
|
rs61750431
|
|
NM_000466.3(PEX1):c.3384C>A (p.Leu1128=)
|
|
|
NM_000466.3(PEX1):c.3396C>T (p.Ser1132=)
|
|
|
NM_000466.3(PEX1):c.33G>A (p.Gly11=)
|
|
|
NM_000466.3(PEX1):c.3402T>C (p.Tyr1134=)
|
rs758575707
|
|
NM_000466.3(PEX1):c.3420T>C (p.Asn1140=)
|
|
|
NM_000466.3(PEX1):c.3426C>A (p.Thr1142=)
|
rs143220470
|
|
NM_000466.3(PEX1):c.3426C>G (p.Thr1142=)
|
rs143220470
|
|
NM_000466.3(PEX1):c.3436T>C (p.Leu1146=)
|
rs1307285416
|
|
NM_000466.3(PEX1):c.3438+17T>A
|
|
|
NM_000466.3(PEX1):c.3438+20T>C
|
|
|
NM_000466.3(PEX1):c.3438+7T>C
|
rs2116057339
|
|
NM_000466.3(PEX1):c.3438+8G>A
|
rs2116057302
|
|
NM_000466.3(PEX1):c.3438+9T>C
|
rs2116057274
|
|
NM_000466.3(PEX1):c.3439-11T>C
|
|
|
NM_000466.3(PEX1):c.3439-15C>T
|
|
|
NM_000466.3(PEX1):c.3439-21_3439-16dup
|
|
|
NM_000466.3(PEX1):c.3439-5T>C
|
rs1483920015
|
|
NM_000466.3(PEX1):c.3439-8C>T
|
|
|
NM_000466.3(PEX1):c.3444A>C (p.Ser1148=)
|
|
|
NM_000466.3(PEX1):c.3447A>G (p.Gln1149=)
|
rs781059210
|
|
NM_000466.3(PEX1):c.3450T>C (p.Cys1150=)
|
rs1459743428
|
|
NM_000466.3(PEX1):c.3453C>G (p.Leu1151=)
|
|
|
NM_000466.3(PEX1):c.3453C>T (p.Leu1151=)
|
|
|
NM_000466.3(PEX1):c.3459A>C (p.Ala1153=)
|
rs2116045162
|
|
NM_000466.3(PEX1):c.345T>C (p.Asp115=)
|
|
|
NM_000466.3(PEX1):c.3489A>T (p.Gly1163=)
|
|
|
NM_000466.3(PEX1):c.3490G>A (p.Val1164Ile)
|
|
|
NM_000466.3(PEX1):c.3501A>G (p.Lys1167=)
|
rs2116044708
|
|
NM_000466.3(PEX1):c.3513T>C (p.Phe1171=)
|
|
|
NM_000466.3(PEX1):c.351G>A (p.Glu117=)
|
|
|
NM_000466.3(PEX1):c.3522T>G (p.Pro1174=)
|
rs1791183949
|
|
NM_000466.3(PEX1):c.3525A>G (p.Pro1175=)
|
rs1791183728
|
|
NM_000466.3(PEX1):c.3552T>C (p.Gly1184=)
|
rs1246785455
|
|
NM_000466.3(PEX1):c.355C>T (p.Leu119=)
|
rs2116253059
|
|
NM_000466.3(PEX1):c.3567A>C (p.Thr1189=)
|
rs2116043815
|
|
NM_000466.3(PEX1):c.3567A>G (p.Thr1189=)
|
|
|
NM_000466.3(PEX1):c.358-10T>C
|
|
|
NM_000466.3(PEX1):c.358-13C>A
|
|
|
NM_000466.3(PEX1):c.358-17_358-14del
|
rs1174720123
|
|
NM_000466.3(PEX1):c.358-20_358-19inv
|
|
|
NM_000466.3(PEX1):c.358-8G>C
|
rs1585256094
|
|
NM_000466.3(PEX1):c.3582T>C (p.Asp1194=)
|
|
|
NM_000466.3(PEX1):c.3588G>A (p.Leu1196=)
|
|
|
NM_000466.3(PEX1):c.3622C>T (p.Arg1208Trp)
|
|
|
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)
|
rs886062501
|
|
NM_000466.3(PEX1):c.3636+12T>C
|
|
|
NM_000466.3(PEX1):c.3636+14C>T
|
|
|
NM_000466.3(PEX1):c.3636+17C>A
|
|
|
NM_000466.3(PEX1):c.3636+19C>T
|
|
|
NM_000466.3(PEX1):c.3636+20A>G
|
|
|
NM_000466.3(PEX1):c.3636+7C>T
|
rs761255965
|
|
NM_000466.3(PEX1):c.3637-15C>A
|
|
|
NM_000466.3(PEX1):c.3637-18T>C
|
|
|
NM_000466.3(PEX1):c.3637-19A>T
|
|
|
NM_000466.3(PEX1):c.3637-19del
|
|
|
NM_000466.3(PEX1):c.3637-6C>T
|
rs2116039914
|
|
NM_000466.3(PEX1):c.3637-8T>A
|
rs778635449
|
|
NM_000466.3(PEX1):c.3637-8T>C
|
|
|
NM_000466.3(PEX1):c.3637-9T>C
|
rs1251346880
|
|
NM_000466.3(PEX1):c.3637-9T>G
|
|
|
NM_000466.3(PEX1):c.3639G>A (p.Glu1213=)
|
rs756953510
|
|
NM_000466.3(PEX1):c.363G>A (p.Leu121=)
|
rs200866361
|
|
NM_000466.3(PEX1):c.366T>C (p.His122=)
|
|
|
NM_000466.3(PEX1):c.3678A>G (p.Arg1226=)
|
|
|
NM_000466.3(PEX1):c.3696A>G (p.Ser1232=)
|
rs2116039237
|
|
NM_000466.3(PEX1):c.36A>G (p.Gly12=)
|
rs775940490
|
|
NM_000466.3(PEX1):c.3723A>G (p.Thr1241=)
|
rs1048574377
|
|
NM_000466.3(PEX1):c.3726A>G (p.Arg1242=)
|
rs1585209870
|
|
NM_000466.3(PEX1):c.3732C>G (p.Ser1244=)
|
rs2116038940
|
|
NM_000466.3(PEX1):c.3735T>C (p.Ile1245=)
|
|
|
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)
|
rs553001596
|
|
NM_000466.3(PEX1):c.3767+11G>A
|
|
|
NM_000466.3(PEX1):c.3767+12A>T
|
|
|
NM_000466.3(PEX1):c.3767+15_3767+16del
|
|
|
NM_000466.3(PEX1):c.3767+16T>C
|
|
|
NM_000466.3(PEX1):c.3767+9C>T
|
|
|
NM_000466.3(PEX1):c.3768-10C>A
|
|
|
NM_000466.3(PEX1):c.3768-10_3768-7del
|
|
|
NM_000466.3(PEX1):c.3768-11T>C
|
rs1585206248
|
|
NM_000466.3(PEX1):c.3768-12_3768-11del
|
|
|
NM_000466.3(PEX1):c.3768-14_3768-13del
|
|
|
NM_000466.3(PEX1):c.3768-16C>A
|
|
|
NM_000466.3(PEX1):c.3768-17T>A
|
|
|
NM_000466.3(PEX1):c.3768-20T>A
|
|
|
NM_000466.3(PEX1):c.3768-22_3768-18del
|
|
|
NM_000466.3(PEX1):c.3771T>C (p.Tyr1257=)
|
rs2116022961
|
|
NM_000466.3(PEX1):c.3774A>G (p.Glu1258=)
|
|
|
NM_000466.3(PEX1):c.3783A>G (p.Gln1261=)
|
rs1790992143
|
|
NM_000466.3(PEX1):c.3792G>A (p.Lys1264=)
|
rs2116022815
|
|
NM_000466.3(PEX1):c.3816A>G (p.Thr1272=)
|
|
|
NM_000466.3(PEX1):c.3828T>A (p.Pro1276=)
|
|
|
NM_000466.3(PEX1):c.3840A>G (p.Val1280=)
|
rs2116022170
|
|
NM_000466.3(PEX1):c.3846A>G (p.Leu1282=)
|
rs2116022091
|
|
NM_000466.3(PEX1):c.3851A>G (p.Ter1284=)
|
rs957039229
|
|
NM_000466.3(PEX1):c.391C>T (p.Leu131=)
|
rs2116249061
|
|
NM_000466.3(PEX1):c.393A>C (p.Leu131=)
|
rs780791624
|
|
NM_000466.3(PEX1):c.396T>C (p.Asp132=)
|
rs1225400009
|
|
NM_000466.3(PEX1):c.39C>A (p.Gly13=)
|
rs746171089
|
|
NM_000466.3(PEX1):c.39C>T (p.Gly13=)
|
|
|
NM_000466.3(PEX1):c.403C>A (p.Arg135=)
|
rs201415996
|
|
NM_000466.3(PEX1):c.423C>A (p.Ala141=)
|
rs2116248825
|
|
NM_000466.3(PEX1):c.42G>A (p.Gly14=)
|
rs1793401122
|
|
NM_000466.3(PEX1):c.453G>A (p.Thr151=)
|
rs368714078
|
|
NM_000466.3(PEX1):c.453G>C (p.Thr151=)
|
rs368714078
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000466.3(PEX1):c.472+10A>C
|
|
|
NM_000466.3(PEX1):c.472+10A>G
|
rs1792887415
|
|
NM_000466.3(PEX1):c.472+16A>G
|
|
|
NM_000466.3(PEX1):c.472+19T>C
|
rs1792886894
|
|
NM_000466.3(PEX1):c.472+20T>A
|
|
|
NM_000466.3(PEX1):c.472+7G>A
|
rs1017687646
|
|
NM_000466.3(PEX1):c.472+8C>T
|
rs2116248438
|
|
NM_000466.3(PEX1):c.473-13A>C
|
|
|
NM_000466.3(PEX1):c.473-13dup
|
|
|
NM_000466.3(PEX1):c.473-14del
|
rs1236657615
|
|
NM_000466.3(PEX1):c.473-16T>C
|
|
|
NM_000466.3(PEX1):c.473-7T>C
|
rs1792881897
|
|
NM_000466.3(PEX1):c.477A>G (p.Ala159=)
|
rs759628709
|
|
NM_000466.3(PEX1):c.478C>T (p.Leu160=)
|
|
|
NM_000466.3(PEX1):c.480A>G (p.Leu160=)
|
|
|
NM_000466.3(PEX1):c.489T>G (p.Ala163=)
|
rs1269219461
|
|
NM_000466.3(PEX1):c.522A>G (p.Lys174=)
|
rs2116247566
|
|
NM_000466.3(PEX1):c.540G>A (p.Lys180=)
|
rs1418653170
|
|
NM_000466.3(PEX1):c.54T>C (p.Thr18=)
|
rs2116298890
|
|
NM_000466.3(PEX1):c.54T>G (p.Thr18=)
|
|
|
NM_000466.3(PEX1):c.564A>G (p.Thr188=)
|
|
|
NM_000466.3(PEX1):c.564A>T (p.Thr188=)
|
rs2116247151
|
|
NM_000466.3(PEX1):c.570A>G (p.Ser190=)
|
rs977095522
|
|
NM_000466.3(PEX1):c.570A>T (p.Ser190=)
|
rs977095522
|
|
NM_000466.3(PEX1):c.576T>G (p.Ala192=)
|
rs1585255480
|
|
NM_000466.3(PEX1):c.57G>A (p.Val19=)
|
rs934266708
|
|
NM_000466.3(PEX1):c.60C>G (p.Ala20=)
|
rs2116298824
|
|
NM_000466.3(PEX1):c.621A>G (p.Lys207=)
|
|
|
NM_000466.3(PEX1):c.642A>G (p.Gln214=)
|
|
|
NM_000466.3(PEX1):c.645C>A (p.Thr215=)
|
rs151041559
|
|
NM_000466.3(PEX1):c.648G>A (p.Lys216=)
|
rs1289765250
|
|
NM_000466.3(PEX1):c.654T>C (p.Leu218=)
|
rs2116246535
|
|
NM_000466.3(PEX1):c.660A>G (p.Ser220=)
|
rs2116246458
|
|
NM_000466.3(PEX1):c.699A>G (p.Ser233=)
|
rs2116246198
|
|
NM_000466.3(PEX1):c.69C>T (p.Asn23=)
|
|
|
NM_000466.3(PEX1):c.705T>A (p.Ile235=)
|
|
|
NM_000466.3(PEX1):c.711T>A (p.Val237=)
|
rs758443247
|
|
NM_000466.3(PEX1):c.717A>G (p.Ser239=)
|
rs2116246138
|
|
NM_000466.3(PEX1):c.720A>G (p.Ser240=)
|
|
|
NM_000466.3(PEX1):c.723A>G (p.Ser241=)
|
rs2116246060
|
|
NM_000466.3(PEX1):c.726A>G (p.Val242=)
|
|
|
NM_000466.3(PEX1):c.75C>A (p.Arg25=)
|
rs2116298678
|
|
NM_000466.3(PEX1):c.75C>T (p.Arg25=)
|
|
|
NM_000466.3(PEX1):c.768A>G (p.Gln256=)
|
|
|
NM_000466.3(PEX1):c.777G>A (p.Lys259=)
|
|
|
NM_000466.3(PEX1):c.789A>G (p.Thr263=)
|
rs564163221
|
|
NM_000466.3(PEX1):c.78C>T (p.Asp26=)
|
|
|
NM_000466.3(PEX1):c.792T>C (p.Ser264=)
|
|
|
NM_000466.3(PEX1):c.810C>T (p.Ile270=)
|
rs2116245536
|
|
NM_000466.3(PEX1):c.813T>C (p.Asn271=)
|
rs1177803945
|
|
NM_000466.3(PEX1):c.816A>G (p.Ala272=)
|
rs2116245440
|
|
NM_000466.3(PEX1):c.840T>C (p.Val280=)
|
|
|
NM_000466.3(PEX1):c.849A>G (p.Leu283=)
|
|
|
NM_000466.3(PEX1):c.84C>T (p.Phe28=)
|
rs1263087011
|
|
NM_000466.3(PEX1):c.882T>A (p.Pro294=)
|
|
|
NM_000466.3(PEX1):c.885T>C (p.Pro295=)
|
|
|
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)
|
rs751506204
|
|
NM_000466.3(PEX1):c.903A>T (p.Ser301=)
|
rs2116244706
|
|
NM_000466.3(PEX1):c.906A>C (p.Ala302=)
|
rs2116244665
|
|
NM_000466.3(PEX1):c.90C>T (p.His30=)
|
|
|
NM_000466.3(PEX1):c.933C>T (p.Ala311=)
|
|
|
NM_000466.3(PEX1):c.942A>G (p.Val314=)
|
|
|
NM_000466.3(PEX1):c.948A>G (p.Pro316=)
|
rs780966702
|
|
NM_000466.3(PEX1):c.969T>C (p.Asp323=)
|
rs2116244121
|
|
NM_000466.3(PEX1):c.96G>A (p.Pro32=)
|
rs1445565547
|
|
NM_000466.3(PEX1):c.978C>T (p.Pro326=)
|
|
|
NM_000466.3(PEX1):c.984T>C (p.Phe328=)
|
|
|
NM_000466.3(PEX1):c.996T>C (p.Tyr332=)
|
|
|
NM_001127649.3(PEX26):c.*1740C>G
|
rs139987168
|
|
NM_001127649.3(PEX26):c.*2703G>A
|
rs186314626
|
|
NM_001127649.3(PEX26):c.102C>G (p.Ala34=)
|
|
|
NM_001127649.3(PEX26):c.111T>G (p.Leu37=)
|
|
|
NM_001127649.3(PEX26):c.112C>T (p.Leu38=)
|
|
|
NM_001127649.3(PEX26):c.126C>T (p.Ala42=)
|
|
|
NM_001127649.3(PEX26):c.129C>T (p.Asp43=)
|
|
|
NM_001127649.3(PEX26):c.12T>C (p.Asp4=)
|
rs2123643665
|
|
NM_001127649.3(PEX26):c.132C>G (p.Leu44=)
|
rs1926398903
|
|
NM_001127649.3(PEX26):c.133C>T (p.Leu45=)
|
|
|
NM_001127649.3(PEX26):c.141G>C (p.Val47=)
|
|
|
NM_001127649.3(PEX26):c.150C>T (p.Asp50=)
|
rs1926400252
|
|
NM_001127649.3(PEX26):c.15T>C (p.Ser5=)
|
rs2123643683
|
|
NM_001127649.3(PEX26):c.162G>T (p.Ala54=)
|
|
|
NM_001127649.3(PEX26):c.163C>T (p.Leu55=)
|
|
|
NM_001127649.3(PEX26):c.174C>T (p.Cys58=)
|
rs2123644447
|
|
NM_001127649.3(PEX26):c.180G>A (p.Arg60=)
|
|
|
NM_001127649.3(PEX26):c.183C>T (p.Ala61=)
|
|
|
NM_001127649.3(PEX26):c.189G>A (p.Gln63=)
|
|
|
NM_001127649.3(PEX26):c.18G>A (p.Ser6=)
|
|
|
NM_001127649.3(PEX26):c.195G>A (p.Leu65=)
|
|
|
NM_001127649.3(PEX26):c.201C>T (p.Asn67=)
|
|
|
NM_001127649.3(PEX26):c.204C>T (p.His68=)
|
|
|
NM_001127649.3(PEX26):c.222C>T (p.Pro74=)
|
rs1198363471
|
|
NM_001127649.3(PEX26):c.225G>T (p.Ala75=)
|
|
|
NM_001127649.3(PEX26):c.230+10G>A
|
|
|
NM_001127649.3(PEX26):c.230+12G>C
|
|
|
NM_001127649.3(PEX26):c.230+15C>T
|
rs2123644748
|
|
NM_001127649.3(PEX26):c.230+16G>A
|
|
|
NM_001127649.3(PEX26):c.230+7G>A
|
|
|
NM_001127649.3(PEX26):c.230+8C>T
|
rs886057245
|
|
NM_001127649.3(PEX26):c.231-10C>A
|
|
|
NM_001127649.3(PEX26):c.231-16G>T
|
|
|
NM_001127649.3(PEX26):c.234A>G (p.Ser78=)
|
|
|
NM_001127649.3(PEX26):c.235T>C (p.Leu79=)
|
rs1182241128
|
|
NM_001127649.3(PEX26):c.255G>A (p.Leu85=)
|
|
|
NM_001127649.3(PEX26):c.255G>C (p.Leu85=)
|
|
|
NM_001127649.3(PEX26):c.276C>A (p.Ala92=)
|
|
|
NM_001127649.3(PEX26):c.277C>T (p.Leu93=)
|
rs1438726246
|
|
NM_001127649.3(PEX26):c.279G>A (p.Leu93=)
|
|
|
NM_001127649.3(PEX26):c.306C>A (p.Val102=)
|
|
|
NM_001127649.3(PEX26):c.30C>A (p.Ala10=)
|
|
|
NM_001127649.3(PEX26):c.324G>A (p.Gln108=)
|
rs1569186417
|
|
NM_001127649.3(PEX26):c.336C>T (p.Val112=)
|
|
|
NM_001127649.3(PEX26):c.33C>T (p.Pro11=)
|
|
|
NM_001127649.3(PEX26):c.348A>G (p.Leu116=)
|
rs2123647615
|
|
NM_001127649.3(PEX26):c.351C>T (p.Pro117=)
|
rs2123647646
|
|
NM_001127649.3(PEX26):c.354C>G (p.Pro118=)
|
|
|
NM_001127649.3(PEX26):c.36C>A (p.Leu12=)
|
|
|
NM_001127649.3(PEX26):c.36C>G (p.Leu12=)
|
|
|
NM_001127649.3(PEX26):c.36C>T (p.Leu12=)
|
rs765484850
|
|
NM_001127649.3(PEX26):c.371+10C>A
|
|
|
NM_001127649.3(PEX26):c.371+10_371+12del
|
|
|
NM_001127649.3(PEX26):c.371+14G>A
|
rs2123647751
|
|
NM_001127649.3(PEX26):c.371+19C>T
|
rs2123647763
|
|
NM_001127649.3(PEX26):c.371+20dup
|
|
|
NM_001127649.3(PEX26):c.371+8T>C
|
|
|
NM_001127649.3(PEX26):c.372-18G>A
|
rs2123654065
|
|
NM_001127649.3(PEX26):c.372-18G>T
|
|
|
NM_001127649.3(PEX26):c.372-4G>A
|
|
|
NM_001127649.3(PEX26):c.396A>G (p.Gln132=)
|
rs2123654144
|
|
NM_001127649.3(PEX26):c.402T>C (p.Pro134=)
|
rs2123654164
|
|
NM_001127649.3(PEX26):c.414G>C (p.Leu138=)
|
|
|
NM_001127649.3(PEX26):c.423G>A (p.Val141=)
|
rs749533743
|
|
NM_001127649.3(PEX26):c.429C>T (p.Ala143=)
|
|
|
NM_001127649.3(PEX26):c.438A>G (p.Gln146=)
|
|
|
NM_001127649.3(PEX26):c.444A>G (p.Pro148=)
|
|
|
NM_001127649.3(PEX26):c.447C>G (p.Ala149=)
|
|
|
NM_001127649.3(PEX26):c.45C>T (p.Leu15=)
|
|
|
NM_001127649.3(PEX26):c.462A>T (p.Pro154=)
|
rs1295725460
|
|
NM_001127649.3(PEX26):c.465A>G (p.Glu155=)
|
|
|
NM_001127649.3(PEX26):c.468T>C (p.Tyr156=)
|
|
|
NM_001127649.3(PEX26):c.477G>A (p.Leu159=)
|
|
|
NM_001127649.3(PEX26):c.48G>A (p.Gly16=)
|
|
|
NM_001127649.3(PEX26):c.498G>A (p.Arg166=)
|
|
|
NM_001127649.3(PEX26):c.502C>T (p.Leu168=)
|
|
|
NM_001127649.3(PEX26):c.511C>T (p.Leu171=)
|
rs2123654389
|
|
NM_001127649.3(PEX26):c.516C>T (p.Gly172=)
|
|
|
NM_001127649.3(PEX26):c.525G>A (p.Ser175=)
|
|
|
NM_001127649.3(PEX26):c.540A>C (p.Leu180=)
|
rs374381444
|
|
NM_001127649.3(PEX26):c.543G>A (p.Val181=)
|
|
|
NM_001127649.3(PEX26):c.543G>T (p.Val181=)
|
|
|
NM_001127649.3(PEX26):c.55C>T (p.Leu19=)
|
|
|
NM_001127649.3(PEX26):c.579G>A (p.Leu193=)
|
|
|
NM_001127649.3(PEX26):c.57G>A (p.Leu19=)
|
|
|
NM_001127649.3(PEX26):c.600C>T (p.His200=)
|
|
|
NM_001127649.3(PEX26):c.603A>G (p.Thr201=)
|
|
|
NM_001127649.3(PEX26):c.606G>A (p.Ala202=)
|
rs1602462986
|
|
NM_001127649.3(PEX26):c.609G>A (p.Arg203=)
|
|
|
NM_001127649.3(PEX26):c.615G>A (p.Gln205=)
|
|
|
NM_001127649.3(PEX26):c.63C>T (p.Ser21=)
|
|
|
NM_001127649.3(PEX26):c.660C>T (p.Asn220=)
|
|
|
NM_001127649.3(PEX26):c.667+10T>C
|
|
|
NM_001127649.3(PEX26):c.667+13C>T
|
rs1384707261
|
|
NM_001127649.3(PEX26):c.667+15C>T
|
|
|
NM_001127649.3(PEX26):c.667+8A>C
|
|
|
NM_001127649.3(PEX26):c.668-14G>C
|
|
|
NM_001127649.3(PEX26):c.668-16_668-15del
|
|
|
NM_001127649.3(PEX26):c.668-17T>C
|
|
|
NM_001127649.3(PEX26):c.668-18C>A
|
|
|
NM_001127649.3(PEX26):c.668-18C>G
|
|
|
NM_001127649.3(PEX26):c.668-20T>A
|
|
|
NM_001127649.3(PEX26):c.66C>T (p.Ser22=)
|
rs200178985
|
|
NM_001127649.3(PEX26):c.687C>T (p.Phe229=)
|
|
|
NM_001127649.3(PEX26):c.688C>T (p.Leu230=)
|
|
|
NM_001127649.3(PEX26):c.699G>A (p.Pro233=)
|
|
|
NM_001127649.3(PEX26):c.699G>C (p.Pro233=)
|
rs753221766
|
|
NM_001127649.3(PEX26):c.69G>A (p.Glu23=)
|
|
|
NM_001127649.3(PEX26):c.729G>A (p.Ala243=)
|
|
|
NM_001127649.3(PEX26):c.72G>A (p.Pro24=)
|
|
|
NM_001127649.3(PEX26):c.741C>T (p.Phe247=)
|
|
|
NM_001127649.3(PEX26):c.744T>C (p.Phe248=)
|
|
|
NM_001127649.3(PEX26):c.750G>A (p.Leu250=)
|
|
|
NM_001127649.3(PEX26):c.759A>G (p.Lys253=)
|
rs1926793456
|
|
NM_001127649.3(PEX26):c.75G>A (p.Val25=)
|
|
|
NM_001127649.3(PEX26):c.783C>T (p.Ile261=)
|
rs1926794430
|
|
NM_001127649.3(PEX26):c.78C>G (p.Arg26=)
|
|
|
NM_001127649.3(PEX26):c.795G>A (p.Leu265=)
|
rs904472324
|
|
NM_001127649.3(PEX26):c.801G>A (p.Val267=)
|
rs1926796127
|
|
NM_001127649.3(PEX26):c.814+10G>A
|
rs895642650
|
|
NM_001127649.3(PEX26):c.814+11G>C
|
|
|
NM_001127649.3(PEX26):c.814+11G>T
|
|
|
NM_001127649.3(PEX26):c.814+13G>C
|
|
|
NM_001127649.3(PEX26):c.814+17C>T
|
|
|
NM_001127649.3(PEX26):c.814+18_814+19del
|
rs1926798005
|
|
NM_001127649.3(PEX26):c.814+8G>A
|
|
|
NM_001127649.3(PEX26):c.815-14C>T
|
|
|
NM_001127649.3(PEX26):c.815-19G>C
|
rs2123662015
|
|
NM_001127649.3(PEX26):c.815-19G>T
|
|
|
NM_001127649.3(PEX26):c.815-4G>A
|
|
|
NM_001127649.3(PEX26):c.815-5T>C
|
|
|
NM_001127649.3(PEX26):c.815-6C>T
|
rs1556590594
|
|
NM_001127649.3(PEX26):c.815-6del
|
|
|
NM_001127649.3(PEX26):c.815-7C>G
|
rs2123662037
|
|
NM_001127649.3(PEX26):c.819C>G (p.Ser273=)
|
|
|
NM_001127649.3(PEX26):c.825C>T (p.Ser275=)
|
|
|
NM_001127649.3(PEX26):c.840C>T (p.Leu280=)
|
|
|
NM_001127649.3(PEX26):c.84C>G (p.Val28=)
|
|
|
NM_001127649.3(PEX26):c.84C>T (p.Val28=)
|
|
|
NM_001127649.3(PEX26):c.861C>T (p.Phe287=)
|
|
|
NM_001127649.3(PEX26):c.864C>T (p.Arg288=)
|
|
|
NM_001127649.3(PEX26):c.873G>A (p.Arg291=)
|
|
|
NM_001127649.3(PEX26):c.87G>A (p.Pro29=)
|
|
|
NM_001127649.3(PEX26):c.87G>C (p.Pro29=)
|
|
|
NM_001127649.3(PEX26):c.891C>G (p.Arg297=)
|
rs2123662242
|
|
NM_001127649.3(PEX26):c.894C>T (p.Leu298=)
|
|
|
NM_001127649.3(PEX26):c.897C>T (p.Tyr299=)
|
|
|
NM_001127649.3(PEX26):c.90C>T (p.Ala30=)
|
|
|
NM_001127649.3(PEX26):c.91C>T (p.Arg31Trp)
|
|
|
NM_001127649.3(PEX26):c.96G>T (p.Ala32=)
|
|
|
NM_001127649.3(PEX26):c.99G>C (p.Pro33=)
|
rs1284941471
|
|
NM_001351132.2(PEX5):c.-17+151G>A
|
rs146875386
|
|
NM_001351132.2(PEX5):c.1011G>A (p.Gln337=)
|
rs2136226738
|
|
NM_001351132.2(PEX5):c.102A>G (p.Gly34=)
|
|
|
NM_001351132.2(PEX5):c.102A>T (p.Gly34=)
|
rs758936844
|
|
NM_001351132.2(PEX5):c.103T>C (p.Leu35=)
|
rs1314683233
|
|
NM_001351132.2(PEX5):c.1044G>A (p.Glu348=)
|
|
|
NM_001351132.2(PEX5):c.1047G>A (p.Gly349=)
|
rs2136227217
|
|
NM_001351132.2(PEX5):c.1051C>T (p.Leu351=)
|
|
|
NM_001351132.2(PEX5):c.1065G>A (p.Val355=)
|
|
|
NM_001351132.2(PEX5):c.1077G>A (p.Glu359=)
|
|
|
NM_001351132.2(PEX5):c.1104C>T (p.His368=)
|
rs758018152
|
|
NM_001351132.2(PEX5):c.1110+11C>T
|
rs1214830979
|
|
NM_001351132.2(PEX5):c.1110+13A>G
|
|
|
NM_001351132.2(PEX5):c.1110+14T>C
|
|
|
NM_001351132.2(PEX5):c.1110+6_1110+7dup
|
rs749390755
|
|
NM_001351132.2(PEX5):c.1110+8A>G
|
|
|
NM_001351132.2(PEX5):c.1110+9C>T
|
|
|
NM_001351132.2(PEX5):c.1111-14C>T
|
|
|
NM_001351132.2(PEX5):c.1111-18C>T
|
rs1354941816
|
|
NM_001351132.2(PEX5):c.1111-19T>C
|
|
|
NM_001351132.2(PEX5):c.1111-4C>A
|
|
|
NM_001351132.2(PEX5):c.1111-6C>G
|
|
|
NM_001351132.2(PEX5):c.1111-7C>T
|
|
|
NM_001351132.2(PEX5):c.1111-8C>T
|
|
|
NM_001351132.2(PEX5):c.1113T>C (p.Ala371=)
|
rs2136230382
|
|
NM_001351132.2(PEX5):c.1125G>C (p.Leu375=)
|
rs762678346
|
|
NM_001351132.2(PEX5):c.1134C>G (p.Thr378=)
|
|
|
NM_001351132.2(PEX5):c.1143G>A (p.Glu381=)
|
rs2136230701
|
|
NM_001351132.2(PEX5):c.1155A>G (p.Glu385=)
|
|
|
NM_001351132.2(PEX5):c.1173A>G (p.Ala391=)
|
rs1045943718
|
|
NM_001351132.2(PEX5):c.1181+16G>A
|
|
|
NM_001351132.2(PEX5):c.1181+19G>A
|
|
|
NM_001351132.2(PEX5):c.1181+20T>G
|
rs1945041920
|
|
NM_001351132.2(PEX5):c.1182-12C>G
|
|
|
NM_001351132.2(PEX5):c.1182-12C>T
|
|
|
NM_001351132.2(PEX5):c.1182-6A>T
|
rs1945095734
|
|
NM_001351132.2(PEX5):c.1182-8T>C
|
|
|
NM_001351132.2(PEX5):c.1185T>C (p.Cys395=)
|
|
|
NM_001351132.2(PEX5):c.1206C>T (p.Asn402=)
|
|
|
NM_001351132.2(PEX5):c.1215A>G (p.Ala405=)
|
|
|
NM_001351132.2(PEX5):c.1224G>A (p.Ala408=)
|
|
|
NM_001351132.2(PEX5):c.1239C>T (p.Phe413=)
|
|
|
NM_001351132.2(PEX5):c.1248G>A (p.Glu416=)
|
rs2136236014
|
|
NM_001351132.2(PEX5):c.1251C>G (p.Ser417=)
|
|
|
NM_001351132.2(PEX5):c.1254G>C (p.Leu418=)
|
rs989783550
|
|
NM_001351132.2(PEX5):c.1254G>T (p.Leu418=)
|
|
|
NM_001351132.2(PEX5):c.1266C>T (p.Ala422=)
|
|
|
NM_001351132.2(PEX5):c.126C>T (p.Pro42=)
|
rs1199646327
|
|
NM_001351132.2(PEX5):c.1299A>G (p.Thr433=)
|
|
|
NM_001351132.2(PEX5):c.12G>A (p.Arg4=)
|
|
|
NM_001351132.2(PEX5):c.1311C>T (p.Ala437=)
|
|
|
NM_001351132.2(PEX5):c.1315C>T (p.Leu439=)
|
rs756242143
|
|
NM_001351132.2(PEX5):c.132C>G (p.Ala44=)
|
|
|
NM_001351132.2(PEX5):c.1338G>A (p.Gly446=)
|
rs1359071852
|
|
NM_001351132.2(PEX5):c.1356G>C (p.Leu452=)
|
rs1945126491
|
|
NM_001351132.2(PEX5):c.135G>C (p.Pro45=)
|
rs761885230
|
|
NM_001351132.2(PEX5):c.1380A>T (p.Gly460=)
|
rs2136238100
|
|
NM_001351132.2(PEX5):c.1386C>G (p.Leu462=)
|
|
|
NM_001351132.2(PEX5):c.1392T>C (p.Ser464=)
|
rs2136238346
|
|
NM_001351132.2(PEX5):c.1394+18C>T
|
rs148648526
|
|
NM_001351132.2(PEX5):c.1394+9del
|
|
|
NM_001351132.2(PEX5):c.1395-12C>G
|
|
|
NM_001351132.2(PEX5):c.1395-14T>C
|
rs1945174737
|
|
NM_001351132.2(PEX5):c.1395-20T>G
|
|
|
NM_001351132.2(PEX5):c.1395-5T>C
|
|
|
NM_001351132.2(PEX5):c.1398C>A (p.Ser466=)
|
|
|
NM_001351132.2(PEX5):c.1413G>A (p.Val471=)
|
rs115760878
|
|
NM_001351132.2(PEX5):c.1419G>A (p.Glu473=)
|
rs1945181377
|
|
NM_001351132.2(PEX5):c.1426C>T (p.Leu476=)
|
|
|
NM_001351132.2(PEX5):c.147+11T>A
|
|
|
NM_001351132.2(PEX5):c.147+13G>C
|
|
|
NM_001351132.2(PEX5):c.147+32_147+121del
|
|
|
NM_001351132.2(PEX5):c.147+55_147+56insGTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTC
|
|
|
NM_001351132.2(PEX5):c.147+77_147+121del
|
|
|
NM_001351132.2(PEX5):c.1470G>A (p.Val490=)
|
rs2136243242
|
|
NM_001351132.2(PEX5):c.1473G>A (p.Gln491=)
|
|
|
NM_001351132.2(PEX5):c.148-10T>C
|
rs2135889432
|
|
NM_001351132.2(PEX5):c.148-13C>T
|
|
|
NM_001351132.2(PEX5):c.148-14T>C
|
rs111277807
|
|
NM_001351132.2(PEX5):c.148-19C>G
|
|
|
NM_001351132.2(PEX5):c.148-19C>T
|
rs1487304617
|
|
NM_001351132.2(PEX5):c.148-7del
|
|
|
NM_001351132.2(PEX5):c.1480T>C (p.Leu494=)
|
rs1199150044
|
|
NM_001351132.2(PEX5):c.1482G>A (p.Leu494=)
|
rs1591799831
|
|
NM_001351132.2(PEX5):c.1491T>C (p.Leu497=)
|
|
|
NM_001351132.2(PEX5):c.1506G>A (p.Gly502=)
|
|
|
NM_001351132.2(PEX5):c.1515C>T (p.Asp505=)
|
|
|
NM_001351132.2(PEX5):c.1521C>G (p.Ala507=)
|
|
|
NM_001351132.2(PEX5):c.1530C>T (p.Cys510=)
|
rs2136244291
|
|
NM_001351132.2(PEX5):c.1536A>C (p.Thr512=)
|
|
|
NM_001351132.2(PEX5):c.1536A>G (p.Thr512=)
|
|
|
NM_001351132.2(PEX5):c.153C>G (p.Ser51=)
|
|
|
NM_001351132.2(PEX5):c.1560+10G>C
|
|
|
NM_001351132.2(PEX5):c.1560+7C>T
|
|
|
NM_001351132.2(PEX5):c.1561-14C>T
|
|
|
NM_001351132.2(PEX5):c.1561-15G>A
|
|
|
NM_001351132.2(PEX5):c.1561-5C>G
|
|
|
NM_001351132.2(PEX5):c.1561-6T>C
|
|
|
NM_001351132.2(PEX5):c.1572G>A (p.Leu524=)
|
|
|
NM_001351132.2(PEX5):c.1593C>G (p.Thr531=)
|
|
|
NM_001351132.2(PEX5):c.15G>A (p.Glu5=)
|
rs2135875866
|
|
NM_001351132.2(PEX5):c.1629T>C (p.Ala543=)
|
rs2136255855
|
|
NM_001351132.2(PEX5):c.1632G>C (p.Ala544=)
|
rs115338343
|
|
NM_001351132.2(PEX5):c.1632G>T (p.Ala544=)
|
rs115338343
|
|
NM_001351132.2(PEX5):c.1653C>T (p.Leu551=)
|
rs200215904
|
|
NM_001351132.2(PEX5):c.1668C>T (p.Ile556=)
|
|
|
NM_001351132.2(PEX5):c.1674C>T (p.Ser558=)
|
|
|
NM_001351132.2(PEX5):c.1684C>T (p.Leu562=)
|
|
|
NM_001351132.2(PEX5):c.1686G>A (p.Leu562=)
|
|
|
NM_001351132.2(PEX5):c.168A>G (p.Val56=)
|
|
|
NM_001351132.2(PEX5):c.1704C>T (p.Asn568=)
|
|
|
NM_001351132.2(PEX5):c.1713T>G (p.Ala571=)
|
|
|
NM_001351132.2(PEX5):c.1718+11_1718+14del
|
rs749232654
|
|
NM_001351132.2(PEX5):c.1718+11_1718+14dup
|
rs749232654
|
|
NM_001351132.2(PEX5):c.1718+18G>C
|
|
|
NM_001351132.2(PEX5):c.1718+19A>G
|
|
|
NM_001351132.2(PEX5):c.1718+7G>A
|
|
|
NM_001351132.2(PEX5):c.1718+8T>G
|
|
|
NM_001351132.2(PEX5):c.1718+9A>G
|
rs1945321190
|
|
NM_001351132.2(PEX5):c.1718+9_1718+10del
|
rs1276135396
|
|
NM_001351132.2(PEX5):c.1718+9_1718+11dup
|
|
|
NM_001351132.2(PEX5):c.1719-10T>G
|
|
|
NM_001351132.2(PEX5):c.1719-10_1719-8del
|
rs1244659564
|
|
NM_001351132.2(PEX5):c.1719-13T>C
|
rs1441424289
|
|
NM_001351132.2(PEX5):c.1719-4A>T
|
|
|
NM_001351132.2(PEX5):c.1719-7del
|
|
|
NM_001351132.2(PEX5):c.1728G>A (p.Val576=)
|
|
|
NM_001351132.2(PEX5):c.1740G>A (p.Leu580=)
|
rs2136262978
|
|
NM_001351132.2(PEX5):c.1746C>T (p.Ala582=)
|
rs1565723752
|
|
NM_001351132.2(PEX5):c.1767C>T (p.Ser589=)
|
|
|
NM_001351132.2(PEX5):c.1768C>A (p.Arg590=)
|
|
|
NM_001351132.2(PEX5):c.1773C>A (p.Gly591=)
|
|
|
NM_001351132.2(PEX5):c.1776C>G (p.Pro592=)
|
|
|
NM_001351132.2(PEX5):c.1777C>A (p.Arg593=)
|
|
|
NM_001351132.2(PEX5):c.1782T>C (p.Gly594=)
|
|
|
NM_001351132.2(PEX5):c.1794C>T (p.Ala598=)
|
rs778329472
|
|
NM_001351132.2(PEX5):c.1809C>T (p.Ile603=)
|
|
|
NM_001351132.2(PEX5):c.1815C>T (p.Ser605=)
|
|
|
NM_001351132.2(PEX5):c.1821G>C (p.Leu607=)
|
|
|
NM_001351132.2(PEX5):c.183+12A>C
|
rs2135890525
|
|
NM_001351132.2(PEX5):c.183+13G>A
|
|
|
NM_001351132.2(PEX5):c.183+15C>A
|
rs1044102845
|
|
NM_001351132.2(PEX5):c.183+15C>G
|
|
|
NM_001351132.2(PEX5):c.183+16T>C
|
|
|
NM_001351132.2(PEX5):c.183+17C>A
|
|
|
NM_001351132.2(PEX5):c.183+7A>G
|
|
|
NM_001351132.2(PEX5):c.183+8G>C
|
|
|
NM_001351132.2(PEX5):c.183+9A>G
|
|
|
NM_001351132.2(PEX5):c.184-16A>C
|
|
|
NM_001351132.2(PEX5):c.184-17C>T
|
|
|
NM_001351132.2(PEX5):c.184-20C>A
|
|
|
NM_001351132.2(PEX5):c.184-4del
|
|
|
NM_001351132.2(PEX5):c.184-8T>A
|
|
|
NM_001351132.2(PEX5):c.184-9T>G
|
|
|
NM_001351132.2(PEX5):c.1845C>A (p.Gly615=)
|
|
|
NM_001351132.2(PEX5):c.1863G>A (p.Gly621=)
|
|
|
NM_001351132.2(PEX5):c.1887C>T (p.Ser629=)
|
|
|
NM_001351132.2(PEX5):c.1909C>T (p.Leu637=)
|
rs2136267479
|
|
NM_001351132.2(PEX5):c.1914C>T (p.Pro638=)
|
|
|
NM_001351132.2(PEX5):c.192T>C (p.Ala64=)
|
|
|
NM_001351132.2(PEX5):c.219C>A (p.Pro73=)
|
|
|
NM_001351132.2(PEX5):c.225G>C (p.Val75=)
|
rs1941054422
|
|
NM_001351132.2(PEX5):c.231T>C (p.Arg77=)
|
|
|
NM_001351132.2(PEX5):c.234C>T (p.Ala78=)
|
|
|
NM_001351132.2(PEX5):c.243C>T (p.Thr81=)
|
|
|
NM_001351132.2(PEX5):c.261C>T (p.Leu87=)
|
|
|
NM_001351132.2(PEX5):c.262C>T (p.Leu88=)
|
|
|
NM_001351132.2(PEX5):c.267T>C (p.Ala89=)
|
|
|
NM_001351132.2(PEX5):c.279G>A (p.Gln93=)
|
|
|
NM_001351132.2(PEX5):c.282T>A (p.Ile94=)
|
|
|
NM_001351132.2(PEX5):c.285G>A (p.Glu95=)
|
|
|
NM_001351132.2(PEX5):c.297C>T (p.Phe99=)
|
|
|
NM_001351132.2(PEX5):c.300C>T (p.Arg100=)
|
|
|
NM_001351132.2(PEX5):c.316+11A>G
|
|
|
NM_001351132.2(PEX5):c.316+14C>G
|
|
|
NM_001351132.2(PEX5):c.316+16A>C
|
|
|
NM_001351132.2(PEX5):c.316+19G>A
|
|
|
NM_001351132.2(PEX5):c.316+9A>C
|
|
|
NM_001351132.2(PEX5):c.317-10C>T
|
|
|
NM_001351132.2(PEX5):c.317-11_317-10insGT
|
rs779639697
|
|
NM_001351132.2(PEX5):c.317-16C>G
|
|
|
NM_001351132.2(PEX5):c.317-16C>T
|
|
|
NM_001351132.2(PEX5):c.317-18C>G
|
|
|
NM_001351132.2(PEX5):c.317-18C>T
|
|
|
NM_001351132.2(PEX5):c.317-19TC[5]
|
rs745564890
|
|
NM_001351132.2(PEX5):c.317-19TC[7]
|
|
|
NM_001351132.2(PEX5):c.317-20T>C
|
|
|
NM_001351132.2(PEX5):c.330A>C (p.Ala110=)
|
|
|
NM_001351132.2(PEX5):c.339C>G (p.Ala113=)
|
|
|
NM_001351132.2(PEX5):c.339C>T (p.Ala113=)
|
|
|
NM_001351132.2(PEX5):c.33C>T (p.Cys11=)
|
|
|
NM_001351132.2(PEX5):c.340T>C (p.Leu114=)
|
|
|
NM_001351132.2(PEX5):c.345T>G (p.Ser115=)
|
|
|
NM_001351132.2(PEX5):c.348G>A (p.Glu116=)
|
|
|
NM_001351132.2(PEX5):c.36G>A (p.Gly12=)
|
rs1940801248
|
|
NM_001351132.2(PEX5):c.36G>C (p.Gly12=)
|
|
|
NM_001351132.2(PEX5):c.393A>C (p.Val131=)
|
|
|
NM_001351132.2(PEX5):c.414T>A (p.Thr138=)
|
|
|
NM_001351132.2(PEX5):c.417C>T (p.Asp139=)
|
|
|
NM_001351132.2(PEX5):c.42C>T (p.Ala14=)
|
rs1940804674
|
|
NM_001351132.2(PEX5):c.448+12T>C
|
|
|
NM_001351132.2(PEX5):c.448+15G>A
|
|
|
NM_001351132.2(PEX5):c.448+18A>G
|
|
|
NM_001351132.2(PEX5):c.448+20A>G
|
rs2135906489
|
|
NM_001351132.2(PEX5):c.448+7C>T
|
|
|
NM_001351132.2(PEX5):c.449-11G>C
|
rs2136073420
|
|
NM_001351132.2(PEX5):c.449-11del
|
|
|
NM_001351132.2(PEX5):c.449-13C>T
|
|
|
NM_001351132.2(PEX5):c.449-14T>C
|
rs1943225638
|
|
NM_001351132.2(PEX5):c.449-16T>C
|
rs2136073334
|
|
NM_001351132.2(PEX5):c.450C>T (p.Asp150=)
|
|
|
NM_001351132.2(PEX5):c.468T>A (p.Pro156=)
|
|
|
NM_001351132.2(PEX5):c.48G>A (p.Pro16=)
|
rs147958315
|
|
NM_001351132.2(PEX5):c.48G>C (p.Pro16=)
|
rs147958315
|
|
NM_001351132.2(PEX5):c.498A>G (p.Gln166=)
|
rs756714515
|
|
NM_001351132.2(PEX5):c.510G>A (p.Lys170=)
|
rs1943242860
|
|
NM_001351132.2(PEX5):c.511C>T (p.Leu171=)
|
rs1943243303
|
|
NM_001351132.2(PEX5):c.517C>T (p.Leu173=)
|
|
|
NM_001351132.2(PEX5):c.519G>A (p.Leu173=)
|
|
|
NM_001351132.2(PEX5):c.531G>A (p.Glu177=)
|
|
|
NM_001351132.2(PEX5):c.540C>T (p.Ala180=)
|
rs2136075643
|
|
NM_001351132.2(PEX5):c.551+10G>A
|
rs1394539856
|
|
NM_001351132.2(PEX5):c.551+14_551+25del
|
|
|
NM_001351132.2(PEX5):c.551+17C>T
|
|
|
NM_001351132.2(PEX5):c.551+20T>C
|
|
|
NM_001351132.2(PEX5):c.551+8C>T
|
rs775578165
|
|
NM_001351132.2(PEX5):c.552-10C>T
|
|
|
NM_001351132.2(PEX5):c.552-14C>A
|
|
|
NM_001351132.2(PEX5):c.552-4C>T
|
|
|
NM_001351132.2(PEX5):c.552-7G>C
|
|
|
NM_001351132.2(PEX5):c.552-8del
|
rs774656931
|
|
NM_001351132.2(PEX5):c.558T>C (p.Asp186=)
|
rs995809384
|
|
NM_001351132.2(PEX5):c.561A>G (p.Glu187=)
|
rs1159781502
|
|
NM_001351132.2(PEX5):c.564T>C (p.Tyr188=)
|
rs2136142856
|
|
NM_001351132.2(PEX5):c.567T>C (p.His189=)
|
rs1443546589
|
|
NM_001351132.2(PEX5):c.570T>C (p.Pro190=)
|
rs767068406
|
|
NM_001351132.2(PEX5):c.573G>A (p.Glu191=)
|
|
|
NM_001351132.2(PEX5):c.57G>A (p.Lys19=)
|
rs781336959
|
|
NM_001351132.2(PEX5):c.594C>T (p.Ala198=)
|
|
|
NM_001351132.2(PEX5):c.606G>T (p.Val202=)
|
|
|
NM_001351132.2(PEX5):c.609C>T (p.Ala203=)
|
rs747312170
|
|
NM_001351132.2(PEX5):c.60C>T (p.Leu20=)
|
|
|
NM_001351132.2(PEX5):c.618T>C (p.Asp206=)
|
rs1232020173
|
|
NM_001351132.2(PEX5):c.63C>G (p.Ala21=)
|
rs374590365
|
|
NM_001351132.2(PEX5):c.642+12C>A
|
rs2136144500
|
|
NM_001351132.2(PEX5):c.642+12C>T
|
|
|
NM_001351132.2(PEX5):c.642+13C>T
|
|
|
NM_001351132.2(PEX5):c.642+14C>T
|
|
|
NM_001351132.2(PEX5):c.642+18G>A
|
rs1333391326
|
|
NM_001351132.2(PEX5):c.642+18dup
|
|
|
NM_001351132.2(PEX5):c.642+19C>T
|
|
|
NM_001351132.2(PEX5):c.642+20T>G
|
|
|
NM_001351132.2(PEX5):c.642+7del
|
|
|
NM_001351132.2(PEX5):c.642+8A>G
|
|
|
NM_001351132.2(PEX5):c.643-12T>C
|
rs2136150492
|
|
NM_001351132.2(PEX5):c.643-20T>C
|
|
|
NM_001351132.2(PEX5):c.643-22TG[2]
|
rs767919243
|
|
NM_001351132.2(PEX5):c.643-5C>T
|
rs886049826
|
|
NM_001351132.2(PEX5):c.643-6C>T
|
|
|
NM_001351132.2(PEX5):c.651A>G (p.Lys217=)
|
rs2136150959
|
|
NM_001351132.2(PEX5):c.654C>T (p.Phe218=)
|
rs752935710
|
|
NM_001351132.2(PEX5):c.660G>A (p.Arg220=)
|
rs541455903
|
|
NM_001351132.2(PEX5):c.669C>T (p.Gly223=)
|
|
|
NM_001351132.2(PEX5):c.672A>G (p.Glu224=)
|
|
|
NM_001351132.2(PEX5):c.678G>A (p.Gln226=)
|
|
|
NM_001351132.2(PEX5):c.702G>T (p.Gly234=)
|
|
|
NM_001351132.2(PEX5):c.720A>C (p.Ala240=)
|
|
|
NM_001351132.2(PEX5):c.738G>A (p.Glu246=)
|
|
|
NM_001351132.2(PEX5):c.753+18T>A
|
|
|
NM_001351132.2(PEX5):c.753+19C>A
|
|
|
NM_001351132.2(PEX5):c.754-14C>A
|
|
|
NM_001351132.2(PEX5):c.754-18C>G
|
|
|
NM_001351132.2(PEX5):c.754-4G>T
|
rs111286659
|
|
NM_001351132.2(PEX5):c.756T>C (p.Gly252=)
|
|
|
NM_001351132.2(PEX5):c.759A>G (p.Thr253=)
|
|
|
NM_001351132.2(PEX5):c.777C>T (p.Asp259=)
|
|
|
NM_001351132.2(PEX5):c.786A>G (p.Thr262=)
|
|
|
NM_001351132.2(PEX5):c.807C>T (p.Ala269=)
|
|
|
NM_001351132.2(PEX5):c.831C>A (p.Ala277=)
|
rs747216258
|
|
NM_001351132.2(PEX5):c.834G>A (p.Lys278=)
|
|
|
NM_001351132.2(PEX5):c.837A>G (p.Ser279=)
|
rs2136159396
|
|
NM_001351132.2(PEX5):c.843A>C (p.Ile281=)
|
rs1340349823
|
|
NM_001351132.2(PEX5):c.846+12T>C
|
|
|
NM_001351132.2(PEX5):c.846+14G>T
|
|
|
NM_001351132.2(PEX5):c.846+15T>A
|
|
|
NM_001351132.2(PEX5):c.846+15T>G
|
|
|
NM_001351132.2(PEX5):c.846+16G>T
|
|
|
NM_001351132.2(PEX5):c.846+19G>A
|
|
|
NM_001351132.2(PEX5):c.847-11C>T
|
|
|
NM_001351132.2(PEX5):c.847-9T>C
|
|
|
NM_001351132.2(PEX5):c.855C>T (p.Val285=)
|
|
|
NM_001351132.2(PEX5):c.897A>G (p.Ala299=)
|
|
|
NM_001351132.2(PEX5):c.912G>A (p.Glu304=)
|
|
|
NM_001351132.2(PEX5):c.915C>T (p.Ala305=)
|
|
|
NM_001351132.2(PEX5):c.930T>C (p.Ser310=)
|
rs2136175490
|
|
NM_001351132.2(PEX5):c.933C>T (p.Asp311=)
|
rs1446059699
|
|
NM_001351132.2(PEX5):c.93G>A (p.Arg31=)
|
|
|
NM_001351132.2(PEX5):c.942C>T (p.Asp314=)
|
|
|
NM_001351132.2(PEX5):c.948G>A (p.Thr316=)
|
|
|
NM_001351132.2(PEX5):c.948G>T (p.Thr316=)
|
|
|
NM_001351132.2(PEX5):c.951A>G (p.Ser317=)
|
|
|
NM_001351132.2(PEX5):c.960T>C (p.Tyr320=)
|
|
|
NM_001351132.2(PEX5):c.966+12A>C
|
|
|
NM_001351132.2(PEX5):c.966+14T>A
|
|
|
NM_001351132.2(PEX5):c.966+15C>G
|
|
|
NM_001351132.2(PEX5):c.966+15_966+16del
|
rs753821907
|
|
NM_001351132.2(PEX5):c.966+16T>C
|
|
|
NM_001351132.2(PEX5):c.967-10T>G
|
rs2136226017
|
|
NM_001351132.2(PEX5):c.967-17A>T
|
|
|
NM_001351132.2(PEX5):c.967-18C>T
|
rs1944977827
|
|
NM_001351132.2(PEX5):c.967-20C>T
|
|
|
NM_001351132.2(PEX5):c.967-4G>A
|
|
|
NM_001351132.2(PEX5):c.967-9T>A
|
|
|
NM_001351132.2(PEX5):c.969G>A (p.Gly323=)
|
|
|
NM_001351132.2(PEX5):c.969G>C (p.Gly323=)
|
|
|
NM_001351132.2(PEX5):c.984G>A (p.Glu328=)
|
rs2136226421
|
|
NM_002617.4(PEX10):c.105C>T (p.Ser35=)
|
rs1339846247
|
|
NM_002617.4(PEX10):c.112+13C>T
|
|
|
NM_002617.4(PEX10):c.112+15C>T
|
rs1028590508
|
|
NM_002617.4(PEX10):c.112+16G>T
|
rs755971878
|
|
NM_002617.4(PEX10):c.112+9C>A
|
rs1193998842
|
|
NM_002617.4(PEX10):c.112+9C>T
|
rs1193998842
|
|
NM_002617.4(PEX10):c.113-11T>C
|
|
|
NM_002617.4(PEX10):c.113-14G>C
|
|
|
NM_002617.4(PEX10):c.113-18T>C
|
|
|
NM_002617.4(PEX10):c.113-19A>G
|
|
|
NM_002617.4(PEX10):c.113-19del
|
|
|
NM_002617.4(PEX10):c.113-4_113-3del
|
rs2100434998
|
|
NM_002617.4(PEX10):c.113-5C>G
|
rs2100435004
|
|
NM_002617.4(PEX10):c.113-7C>T
|
rs750267481
|
|
NM_002617.4(PEX10):c.117G>A (p.Ala39=)
|
|
|
NM_002617.4(PEX10):c.129G>A (p.Leu43=)
|
|
|
NM_002617.4(PEX10):c.12C>A (p.Ala4=)
|
|
|
NM_002617.4(PEX10):c.12C>G (p.Ala4=)
|
rs1570124090
|
|
NM_002617.4(PEX10):c.12C>T (p.Ala4=)
|
|
|
NM_002617.4(PEX10):c.153G>C (p.Leu51=)
|
|
|
NM_002617.4(PEX10):c.177C>T (p.Gly59=)
|
|
|
NM_002617.4(PEX10):c.183C>A (p.Thr61=)
|
|
|
NM_002617.4(PEX10):c.18C>A (p.Ala6=)
|
|
|
NM_002617.4(PEX10):c.18C>G (p.Ala6=)
|
rs1643277183
|
|
NM_002617.4(PEX10):c.18C>T (p.Ala6=)
|
|
|
NM_002617.4(PEX10):c.193+12C>T
|
|
|
NM_002617.4(PEX10):c.193+14C>T
|
rs768652461
|
|
NM_002617.4(PEX10):c.193+16G>A
|
|
|
NM_002617.4(PEX10):c.193+20C>A
|
|
|
NM_002617.4(PEX10):c.193+9del
|
|
|
NM_002617.4(PEX10):c.194-11C>A
|
|
|
NM_002617.4(PEX10):c.194-11C>T
|
|
|
NM_002617.4(PEX10):c.194-13C>G
|
|
|
NM_002617.4(PEX10):c.194-14C>T
|
rs942084685
|
|
NM_002617.4(PEX10):c.194-4G>T
|
rs778931694
|
|
NM_002617.4(PEX10):c.194-6T>C
|
|
|
NM_002617.4(PEX10):c.194-8C>A
|
rs2100430284
|
|
NM_002617.4(PEX10):c.195C>T (p.Gly65=)
|
rs2100430256
|
|
NM_002617.4(PEX10):c.204C>G (p.Thr68=)
|
|
|
NM_002617.4(PEX10):c.207G>C (p.Leu69=)
|
rs1321969110
|
|
NM_002617.4(PEX10):c.207G>T (p.Leu69=)
|
|
|
NM_002617.4(PEX10):c.213G>A (p.Glu71=)
|
|
|
NM_002617.4(PEX10):c.216G>A (p.Glu72=)
|
rs1643096018
|
|
NM_002617.4(PEX10):c.21C>T (p.Ser7=)
|
rs1296095268
|
|
NM_002617.4(PEX10):c.222C>T (p.Val74=)
|
rs2100430140
|
|
NM_002617.4(PEX10):c.231C>T (p.Ile77=)
|
|
|
NM_002617.4(PEX10):c.246G>C (p.Ser82=)
|
rs370810788
|
|
NM_002617.4(PEX10):c.247C>A (p.Arg83=)
|
rs377135853
|
|
NM_002617.4(PEX10):c.24C>T (p.Pro8=)
|
|
|
NM_002617.4(PEX10):c.255T>C (p.His85=)
|
rs2100429976
|
|
NM_002617.4(PEX10):c.261C>G (p.Pro87=)
|
rs1400578496
|
|
NM_002617.4(PEX10):c.261C>T (p.Pro87=)
|
|
|
NM_002617.4(PEX10):c.264C>T (p.Ser88=)
|
rs2100429934
|
|
NM_002617.4(PEX10):c.270G>A (p.Leu90=)
|
|
|
NM_002617.4(PEX10):c.291A>T (p.Thr97=)
|
rs2494598
|
|
NM_002617.4(PEX10):c.304C>T (p.Leu102=)
|
rs2100429673
|
|
NM_002617.4(PEX10):c.306G>A (p.Leu102=)
|
|
|
NM_002617.4(PEX10):c.306G>T (p.Leu102=)
|
rs1381528689
|
|
NM_002617.4(PEX10):c.30G>A (p.Glu10=)
|
rs1643274987
|
|
NM_002617.4(PEX10):c.327C>G (p.Ala109=)
|
rs2100429553
|
|
NM_002617.4(PEX10):c.327C>T (p.Ala109=)
|
rs2100429553
|
|
NM_002617.4(PEX10):c.330G>C (p.Leu110=)
|
rs779704977
|
|
NM_002617.4(PEX10):c.333C>T (p.Leu111=)
|
rs781710848
|
|
NM_002617.4(PEX10):c.336C>A (p.Pro112=)
|
rs1643091255
|
|
NM_002617.4(PEX10):c.336C>T (p.Pro112=)
|
|
|
NM_002617.4(PEX10):c.357T>A (p.Ala119=)
|
|
|
NM_002617.4(PEX10):c.366C>T (p.Asp122=)
|
rs1047847063
|
|
NM_002617.4(PEX10):c.369T>C (p.Ser123=)
|
|
|
NM_002617.4(PEX10):c.372G>C (p.Gly124=)
|
|
|
NM_002617.4(PEX10):c.378C>T (p.Pro126=)
|
rs762783424
|
|
NM_002617.4(PEX10):c.387G>A (p.Gly129=)
|
|
|
NM_002617.4(PEX10):c.390C>T (p.Ser130=)
|
rs1425257705
|
|
NM_002617.4(PEX10):c.393G>A (p.Leu131=)
|
rs2100429115
|
|
NM_002617.4(PEX10):c.396G>A (p.Gly132=)
|
|
|
NM_002617.4(PEX10):c.399A>G (p.Pro133=)
|
|
|
NM_002617.4(PEX10):c.399A>T (p.Pro133=)
|
|
|
NM_002617.4(PEX10):c.417A>T (p.Ser139=)
|
|
|
NM_002617.4(PEX10):c.426G>A (p.Arg142=)
|
rs2100428915
|
|
NM_002617.4(PEX10):c.42G>T (p.Ala14=)
|
|
|
NM_002617.4(PEX10):c.450C>T (p.Ala150=)
|
|
|
NM_002617.4(PEX10):c.459T>C (p.Thr153=)
|
|
|
NM_002617.4(PEX10):c.45G>A (p.Ala15=)
|
|
|
NM_002617.4(PEX10):c.45G>T (p.Ala15=)
|
|
|
NM_002617.4(PEX10):c.465G>A (p.Gln155=)
|
|
|
NM_002617.4(PEX10):c.474G>A (p.Arg158=)
|
rs2100428593
|
|
NM_002617.4(PEX10):c.478C>T (p.Leu160=)
|
rs2100428537
|
|
NM_002617.4(PEX10):c.484C>A (p.Arg162=)
|
|
|
NM_002617.4(PEX10):c.486G>A (p.Arg162=)
|
|
|
NM_002617.4(PEX10):c.489G>A (p.Ala163=)
|
rs767442631
|
|
NM_002617.4(PEX10):c.489G>T (p.Ala163=)
|
rs767442631
|
|
NM_002617.4(PEX10):c.492C>G (p.Val164=)
|
rs1557910280
|
|
NM_002617.4(PEX10):c.510C>T (p.Gly170=)
|
|
|
NM_002617.4(PEX10):c.522C>T (p.Leu174=)
|
rs1643082506
|
|
NM_002617.4(PEX10):c.526C>A (p.Arg176=)
|
|
|
NM_002617.4(PEX10):c.534T>C (p.His178=)
|
rs1570105385
|
|
NM_002617.4(PEX10):c.537T>A (p.Val179=)
|
|
|
NM_002617.4(PEX10):c.54C>T (p.Asp18=)
|
rs1570123615
|
|
NM_002617.4(PEX10):c.552C>T (p.Ile184=)
|
rs1248786760
|
|
NM_002617.4(PEX10):c.558T>C (p.Gly186=)
|
|
|
NM_002617.4(PEX10):c.561C>T (p.Val187=)
|
rs944648966
|
|
NM_002617.4(PEX10):c.573G>A (p.Leu191=)
|
rs2100427960
|
|
NM_002617.4(PEX10):c.576C>A (p.Ala192=)
|
|
|
NM_002617.4(PEX10):c.582G>A (p.Arg194=)
|
rs2100427884
|
|
NM_002617.4(PEX10):c.585C>G (p.Leu195=)
|
|
|
NM_002617.4(PEX10):c.600+11G>A
|
|
|
NM_002617.4(PEX10):c.600+11G>T
|
|
|
NM_002617.4(PEX10):c.600+12G>A
|
|
|
NM_002617.4(PEX10):c.600+16T>C
|
|
|
NM_002617.4(PEX10):c.600+19G>C
|
|
|
NM_002617.4(PEX10):c.600+20G>A
|
|
|
NM_002617.4(PEX10):c.600+8G>A
|
rs2100427732
|
|
NM_002617.4(PEX10):c.601-22T>C
|
rs2100423367
|
|
NM_002617.4(PEX10):c.601-28G>C
|
|
|
NM_002617.4(PEX10):c.601-31C>T
|
|
|
NM_002617.4(PEX10):c.601-34G>A
|
rs2100423459
|
|
NM_002617.4(PEX10):c.601-37C>G
|
|
|
NM_002617.4(PEX10):c.601-43T>C
|
|
|
NM_002617.4(PEX10):c.601-65C>T
|
|
|
NM_002617.4(PEX10):c.601-66T>G
|
|
|
NM_002617.4(PEX10):c.601-67C>T
|
rs2100423613
|
|
NM_002617.4(PEX10):c.601-6T>C
|
rs2100423258
|
|
NM_002617.4(PEX10):c.601-70A>G
|
rs1643031375
|
|
NM_002617.4(PEX10):c.601-75G>T
|
rs369211467
|
|
NM_002617.4(PEX10):c.601-76C>T
|
rs373676994
|
|
NM_002617.4(PEX10):c.601-79G>A
|
|
|
NM_002617.4(PEX10):c.601-80T>C
|
|
|
NM_002617.4(PEX10):c.603C>A (p.Leu201=)
|
|
|
NM_002617.4(PEX10):c.603C>T (p.Leu201=)
|
|
|
NM_002617.4(PEX10):c.606T>G (p.Arg202=)
|
rs2100423185
|
|
NM_002617.4(PEX10):c.618G>A (p.Leu206=)
|
|
|
NM_002617.4(PEX10):c.621C>T (p.Pro207=)
|
rs140107510
|
|
NM_002617.4(PEX10):c.624A>G (p.Gly208=)
|
rs765658863
|
|
NM_002617.4(PEX10):c.633G>C (p.Leu211=)
|
rs1442790649
|
|
NM_002617.4(PEX10):c.639C>T (p.Ala213=)
|
|
|
NM_002617.4(PEX10):c.63C>T (p.Tyr21=)
|
rs2100441307
|
|
NM_002617.4(PEX10):c.645T>A (p.Val215=)
|
rs972385999
|
|
NM_002617.4(PEX10):c.655C>T (p.Leu219=)
|
rs1643024162
|
|
NM_002617.4(PEX10):c.660G>A (p.Leu220=)
|
rs1570100349
|
|
NM_002617.4(PEX10):c.663G>T (p.Gly221=)
|
rs1292668207
|
|
NM_002617.4(PEX10):c.669C>T (p.Ile223=)
|
|
|
NM_002617.4(PEX10):c.672A>G (p.Ser224=)
|
rs2100422892
|
|
NM_002617.4(PEX10):c.675G>A (p.Leu225=)
|
rs1643023305
|
|
NM_002617.4(PEX10):c.676C>T (p.Leu226=)
|
rs757071778
|
|
NM_002617.4(PEX10):c.678G>A (p.Leu226=)
|
|
|
NM_002617.4(PEX10):c.681C>T (p.His227=)
|
|
|
NM_002617.4(PEX10):c.682C>T (p.Leu228=)
|
rs2100422860
|
|
NM_002617.4(PEX10):c.687G>A (p.Val229=)
|
|
|
NM_002617.4(PEX10):c.6C>T (p.Ala2=)
|
rs112471479
|
|
NM_002617.4(PEX10):c.700C>T (p.Leu234=)
|
|
|
NM_002617.4(PEX10):c.702G>A (p.Leu234=)
|
|
|
NM_002617.4(PEX10):c.708G>A (p.Leu236=)
|
rs779713764
|
|
NM_002617.4(PEX10):c.741G>A (p.Lys247=)
|
rs1335976315
|
|
NM_002617.4(PEX10):c.751C>T (p.Leu251=)
|
|
|
NM_002617.4(PEX10):c.756C>T (p.His252=)
|
rs1370683677
|
|
NM_002617.4(PEX10):c.759C>T (p.Arg253=)
|
rs767807384
|
|
NM_002617.4(PEX10):c.762_776+10dup
|
rs1433344985
|
|
NM_002617.4(PEX10):c.763C>T (p.Leu255=)
|
rs1570099784
|
|
NM_002617.4(PEX10):c.768T>G (p.Ser256=)
|
rs368439785
|
|
NM_002617.4(PEX10):c.776+10G>A
|
rs1241597904
|
|
NM_002617.4(PEX10):c.776+11G>C
|
|
|
NM_002617.4(PEX10):c.776+13G>A
|
|
|
NM_002617.4(PEX10):c.776+14C>A
|
|
|
NM_002617.4(PEX10):c.776+15del
|
|
|
NM_002617.4(PEX10):c.776+7G>C
|
rs908929901
|
|
NM_002617.4(PEX10):c.776+9G>C
|
rs528387404
|
|
NM_002617.4(PEX10):c.777-10C>T
|
rs2100421986
|
|
NM_002617.4(PEX10):c.777-12C>T
|
rs2100421995
|
|
NM_002617.4(PEX10):c.777-13C>T
|
|
|
NM_002617.4(PEX10):c.777-14C>T
|
|
|
NM_002617.4(PEX10):c.777-15C>T
|
|
|
NM_002617.4(PEX10):c.777-16G>A
|
|
|
NM_002617.4(PEX10):c.777-19T>A
|
|
|
NM_002617.4(PEX10):c.777-20C>T
|
|
|
NM_002617.4(PEX10):c.777-4C>T
|
rs2100421969
|
|
NM_002617.4(PEX10):c.777-7T>A
|
|
|
NM_002617.4(PEX10):c.780C>G (p.Ala260=)
|
|
|
NM_002617.4(PEX10):c.786G>A (p.Leu262=)
|
|
|
NM_002617.4(PEX10):c.810C>T (p.Asn270=)
|
|
|
NM_002617.4(PEX10):c.813C>T (p.Pro271=)
|
|
|
NM_002617.4(PEX10):c.816G>A (p.Leu272=)
|
|
|
NM_002617.4(PEX10):c.819C>T (p.Cys273=)
|
rs1570098961
|
|
NM_002617.4(PEX10):c.825G>A (p.Leu275=)
|
|
|
NM_002617.4(PEX10):c.828C>T (p.Cys276=)
|
rs1570098863
|
|
NM_002617.4(PEX10):c.831G>A (p.Leu277=)
|
|
|
NM_002617.4(PEX10):c.837G>A (p.Glu279=)
|
|
|
NM_002617.4(PEX10):c.849A>G (p.Pro283=)
|
rs2100421591
|
|
NM_002617.4(PEX10):c.84G>C (p.Ala28=)
|
|
|
NM_002617.4(PEX10):c.855C>T (p.Ala285=)
|
|
|
NM_002617.4(PEX10):c.867C>T (p.Gly289=)
|
rs1189215652
|
|
NM_002617.4(PEX10):c.87G>A (p.Ala29=)
|
rs1570123397
|
|
NM_002617.4(PEX10):c.885G>A (p.Glu295=)
|
|
|
NM_002617.4(PEX10):c.909C>T (p.Ser303=)
|
|
|
NM_002617.4(PEX10):c.90C>A (p.Gly30=)
|
rs1482910211
|
|
NM_002617.4(PEX10):c.90C>T (p.Gly30=)
|
rs1482910211
|
|
NM_002617.4(PEX10):c.912+10del
|
rs2100421300
|
|
NM_002617.4(PEX10):c.912+14C>A
|
rs2100421277
|
|
NM_002617.4(PEX10):c.912+19G>C
|
|
|
NM_002617.4(PEX10):c.912+20C>T
|
|
|
NM_002617.4(PEX10):c.913-11C>T
|
|
|
NM_002617.4(PEX10):c.913-14T>C
|
|
|
NM_002617.4(PEX10):c.913-15_913-14del
|
|
|
NM_002617.4(PEX10):c.913-17C>G
|
|
|
NM_002617.4(PEX10):c.913-19C>T
|
|
|
NM_002617.4(PEX10):c.913-20C>T
|
|
|
NM_002617.4(PEX10):c.913-9T>C
|
rs1642980853
|
|
NM_002617.4(PEX10):c.924C>T (p.Pro308=)
|
|
|
NM_002617.4(PEX10):c.933G>A (p.Arg311=)
|
|
|
NM_002617.4(PEX10):c.942C>T (p.Phe314=)
|
|
|
NM_002617.4(PEX10):c.945T>C (p.Pro315=)
|
|
|
NM_002617.4(PEX10):c.957C>T (p.Leu319=)
|
rs1458600804
|
|
NM_002617.4(PEX10):c.96C>T (p.Ala32=)
|
|
|
NM_002617.4(PEX10):c.978C>G (p.Arg326=)
|
|
|
NM_002617.4(PEX10):c.9G>A (p.Pro3=)
|
|
|
NM_002617.4(PEX10):c.9G>C (p.Pro3=)
|
rs977160082
|
|
NM_002617.4(PEX10):c.9G>T (p.Pro3=)
|
rs977160082
|
|
NM_002618.4(PEX13):c.1071C>T (p.Asn357=)
|
|
|
NM_002618.4(PEX13):c.1077A>G (p.Thr359=)
|
|
|
NM_002618.4(PEX13):c.1080A>G (p.Leu360=)
|
rs2104814664
|
|
NM_002618.4(PEX13):c.1083T>G (p.Thr361=)
|
rs2104814667
|
|
NM_002618.4(PEX13):c.1104T>C (p.Asp368=)
|
|
|
NM_002618.4(PEX13):c.1131T>C (p.Phe377=)
|
|
|
NM_002618.4(PEX13):c.1140T>G (p.Val380=)
|
|
|
NM_002618.4(PEX13):c.1149A>G (p.Glu383=)
|
rs2104814749
|
|
NM_002618.4(PEX13):c.1188A>G (p.Lys396=)
|
|
|
NM_002618.4(PEX13):c.1191T>C (p.Asp397=)
|
|
|
NM_002618.4(PEX13):c.1203A>G (p.Gln401=)
|
rs2104814800
|
|
NM_002618.4(PEX13):c.123A>G (p.Thr41=)
|
|
|
NM_002618.4(PEX13):c.124A>C (p.Arg42=)
|
|
|
NM_002618.4(PEX13):c.12G>A (p.Gln4=)
|
|
|
NM_002618.4(PEX13):c.132A>G (p.Gly44=)
|
|
|
NM_002618.4(PEX13):c.135A>G (p.Gln45=)
|
|
|
NM_002618.4(PEX13):c.138A>G (p.Pro46=)
|
|
|
NM_002618.4(PEX13):c.147C>A (p.Thr49=)
|
|
|
NM_002618.4(PEX13):c.147C>T (p.Thr49=)
|
|
|
NM_002618.4(PEX13):c.174G>A (p.Arg58=)
|
|
|
NM_002618.4(PEX13):c.18A>T (p.Pro6=)
|
|
|
NM_002618.4(PEX13):c.204G>C (p.Val68=)
|
|
|
NM_002618.4(PEX13):c.204G>T (p.Val68=)
|
|
|
NM_002618.4(PEX13):c.219T>C (p.Pro73=)
|
|
|
NM_002618.4(PEX13):c.222T>C (p.Ala74=)
|
|
|
NM_002618.4(PEX13):c.27C>G (p.Pro9=)
|
|
|
NM_002618.4(PEX13):c.27C>T (p.Pro9=)
|
|
|
NM_002618.4(PEX13):c.297A>G (p.Gly99=)
|
|
|
NM_002618.4(PEX13):c.300T>C (p.Tyr100=)
|
rs2104803312
|
|
NM_002618.4(PEX13):c.309G>T (p.Leu103=)
|
|
|
NM_002618.4(PEX13):c.318C>T (p.Asn106=)
|
rs2104803339
|
|
NM_002618.4(PEX13):c.321C>A (p.Arg107=)
|
rs1245330810
|
|
NM_002618.4(PEX13):c.33C>G (p.Pro11=)
|
rs1680108410
|
|
NM_002618.4(PEX13):c.342A>G (p.Pro114=)
|
|
|
NM_002618.4(PEX13):c.345C>T (p.Pro115=)
|
rs2104803376
|
|
NM_002618.4(PEX13):c.348T>C (p.Ser116=)
|
|
|
NM_002618.4(PEX13):c.366T>C (p.Ala122=)
|
rs2104803394
|
|
NM_002618.4(PEX13):c.383G>T (p.Gly128Val)
|
rs554152771
|
|
NM_002618.4(PEX13):c.387A>C (p.Ala129=)
|
|
|
NM_002618.4(PEX13):c.417A>G (p.Ala139=)
|
rs886056197
|
|
NM_002618.4(PEX13):c.423C>G (p.Ala141=)
|
|
|
NM_002618.4(PEX13):c.423C>T (p.Ala141=)
|
|
|
NM_002618.4(PEX13):c.426T>A (p.Ser142=)
|
|
|
NM_002618.4(PEX13):c.42C>A (p.Thr14=)
|
|
|
NM_002618.4(PEX13):c.447T>C (p.Ala149=)
|
|
|
NM_002618.4(PEX13):c.45C>G (p.Arg15=)
|
rs1405144717
|
|
NM_002618.4(PEX13):c.45C>T (p.Arg15=)
|
rs1405144717
|
|
NM_002618.4(PEX13):c.465T>C (p.Tyr155=)
|
|
|
NM_002618.4(PEX13):c.468C>T (p.Asn156=)
|
|
|
NM_002618.4(PEX13):c.484T>C (p.Leu162=)
|
|
|
NM_002618.4(PEX13):c.504T>C (p.Phe168=)
|
|
|
NM_002618.4(PEX13):c.507C>A (p.Ser169=)
|
|
|
NM_002618.4(PEX13):c.507C>T (p.Ser169=)
|
|
|
NM_002618.4(PEX13):c.510A>G (p.Arg170=)
|
|
|
NM_002618.4(PEX13):c.511T>C (p.Leu171=)
|
|
|
NM_002618.4(PEX13):c.540A>C (p.Ser180=)
|
|
|
NM_002618.4(PEX13):c.549A>G (p.Ala183=)
|
|
|
NM_002618.4(PEX13):c.54G>T (p.Pro18=)
|
rs1002699754
|
|
NM_002618.4(PEX13):c.558G>A (p.Arg186=)
|
|
|
NM_002618.4(PEX13):c.561T>C (p.Thr187=)
|
rs1442600682
|
|
NM_002618.4(PEX13):c.564A>C (p.Ile188=)
|
|
|
NM_002618.4(PEX13):c.567G>A (p.Arg189=)
|
|
|
NM_002618.4(PEX13):c.579A>G (p.Arg193=)
|
rs2104803563
|
|
NM_002618.4(PEX13):c.580C>A (p.Arg194=)
|
rs774157693
|
|
NM_002618.4(PEX13):c.585A>G (p.Leu195=)
|
|
|
NM_002618.4(PEX13):c.591G>A (p.Arg197=)
|
rs2104803591
|
|
NM_002618.4(PEX13):c.60C>T (p.Ala20=)
|
|
|
NM_002618.4(PEX13):c.612C>T (p.Gly204=)
|
rs2104803616
|
|
NM_002618.4(PEX13):c.624A>G (p.Glu208=)
|
rs2104803624
|
|
NM_002618.4(PEX13):c.648A>G (p.Gly216=)
|
|
|
NM_002618.4(PEX13):c.657A>G (p.Ala219=)
|
|
|
NM_002618.4(PEX13):c.660C>T (p.Cys220=)
|
|
|
NM_002618.4(PEX13):c.669T>C (p.Ala223=)
|
|
|
NM_002618.4(PEX13):c.672G>A (p.Glu224=)
|
|
|
NM_002618.4(PEX13):c.684T>G (p.Ala228=)
|
rs2104803682
|
|
NM_002618.4(PEX13):c.69A>C (p.Gly23=)
|
|
|
NM_002618.4(PEX13):c.69A>T (p.Gly23=)
|
|
|
NM_002618.4(PEX13):c.6G>C (p.Ala2=)
|
|
|
NM_002618.4(PEX13):c.6G>T (p.Ala2=)
|
|
|
NM_002618.4(PEX13):c.705A>G (p.Pro235=)
|
|
|
NM_002618.4(PEX13):c.705A>T (p.Pro235=)
|
|
|
NM_002618.4(PEX13):c.714G>A (p.Leu238=)
|
|
|
NM_002618.4(PEX13):c.729C>T (p.Ile243=)
|
|
|
NM_002618.4(PEX13):c.735T>A (p.Gly245=)
|
|
|
NM_002618.4(PEX13):c.738T>C (p.Gly246=)
|
|
|
NM_002618.4(PEX13):c.744C>T (p.Tyr248=)
|
|
|
NM_002618.4(PEX13):c.759A>T (p.Leu253=)
|
|
|
NM_002618.4(PEX13):c.787+10C>T
|
|
|
NM_002618.4(PEX13):c.787+12G>T
|
|
|
NM_002618.4(PEX13):c.787+16G>A
|
|
|
NM_002618.4(PEX13):c.788-5T>C
|
rs561624639
|
|
NM_002618.4(PEX13):c.788-7C>T
|
|
|
NM_002618.4(PEX13):c.788-9G>C
|
|
|
NM_002618.4(PEX13):c.807T>C (p.Ser269=)
|
|
|
NM_002618.4(PEX13):c.828T>C (p.Val276=)
|
|
|
NM_002618.4(PEX13):c.832A>C (p.Arg278=)
|
|
|
NM_002618.4(PEX13):c.84C>T (p.Pro28=)
|
|
|
NM_002618.4(PEX13):c.855C>T (p.Ala285=)
|
rs1438696242
|
|
NM_002618.4(PEX13):c.903A>G (p.Leu301=)
|
|
|
NM_002618.4(PEX13):c.913+11A>G
|
|
|
NM_002618.4(PEX13):c.913+13G>A
|
|
|
NM_002618.4(PEX13):c.913+8A>G
|
|
|
NM_002618.4(PEX13):c.914-10T>C
|
|
|
NM_002618.4(PEX13):c.914-12T>C
|
rs1015226405
|
|
NM_002618.4(PEX13):c.914-16_914-15insA
|
|
|
NM_002618.4(PEX13):c.914-17T>G
|
|
|
NM_002618.4(PEX13):c.914-18G>A
|
|
|
NM_002618.4(PEX13):c.914-19T>G
|
|
|
NM_002618.4(PEX13):c.914-6C>T
|
rs2104814454
|
|
NM_002618.4(PEX13):c.914-7C>T
|
|
|
NM_002618.4(PEX13):c.915A>G (p.Glu305=)
|
|
|
NM_002618.4(PEX13):c.921A>G (p.Gln307=)
|
|
|
NM_002618.4(PEX13):c.93-11T>C
|
|
|
NM_002618.4(PEX13):c.93-12T>A
|
|
|
NM_002618.4(PEX13):c.93-3dup
|
rs2104803114
|
|
NM_002618.4(PEX13):c.93-8G>C
|
|
|
NM_002618.4(PEX13):c.942T>A (p.Leu314=)
|
|
|
NM_002618.4(PEX13):c.943C>T (p.Leu315=)
|
|
|
NM_002618.4(PEX13):c.957T>C (p.Asp319=)
|
|
|
NM_002618.4(PEX13):c.963A>G (p.Gln321=)
|
|
|
NM_002618.4(PEX13):c.969A>G (p.Thr323=)
|
|
|
NM_002618.4(PEX13):c.96T>A (p.Ser32=)
|
|
|
NM_002618.4(PEX13):c.981T>C (p.Pro327=)
|
|
|
NM_002618.4(PEX13):c.984G>T (p.Ala328=)
|
rs144086063
|
|
NM_002618.4(PEX13):c.990T>C (p.Tyr330=)
|
|
|
NM_002618.4(PEX13):c.9C>G (p.Ser3=)
|
rs745465894
|
|
NM_002857.4(PEX19):c.105C>T (p.Ser35=)
|
|
|
NM_002857.4(PEX19):c.132C>T (p.Ala44=)
|
rs1657875449
|
|
NM_002857.4(PEX19):c.144G>A (p.Ser48=)
|
rs1272211650
|
|
NM_002857.4(PEX19):c.144G>C (p.Ser48=)
|
|
|
NM_002857.4(PEX19):c.147G>T (p.Gly49=)
|
|
|
NM_002857.4(PEX19):c.150C>T (p.Pro50=)
|
|
|
NM_002857.4(PEX19):c.162G>A (p.Ser54=)
|
rs540593146
|
|
NM_002857.4(PEX19):c.162G>T (p.Ser54=)
|
rs540593146
|
|
NM_002857.4(PEX19):c.174T>G (p.Thr58=)
|
rs1657872690
|
|
NM_002857.4(PEX19):c.180+13C>T
|
|
|
NM_002857.4(PEX19):c.180+15C>T
|
|
|
NM_002857.4(PEX19):c.180+16C>G
|
|
|
NM_002857.4(PEX19):c.181-12C>T
|
|
|
NM_002857.4(PEX19):c.181-15A>G
|
rs114403769
|
|
NM_002857.4(PEX19):c.181-15A>T
|
rs114403769
|
|
NM_002857.4(PEX19):c.181-16C>T
|
rs1657850255
|
|
NM_002857.4(PEX19):c.181-4G>T
|
rs747572423
|
|
NM_002857.4(PEX19):c.181-6C>G
|
|
|
NM_002857.4(PEX19):c.181-6C>T
|
rs570376017
|
|
NM_002857.4(PEX19):c.181-9C>T
|
|
|
NM_002857.4(PEX19):c.186C>A (p.Ala62=)
|
|
|
NM_002857.4(PEX19):c.21C>T (p.Gly7=)
|
rs140039683
|
|
NM_002857.4(PEX19):c.234A>G (p.Glu78=)
|
rs2101804754
|
|
NM_002857.4(PEX19):c.235C>T (p.Leu79=)
|
|
|
NM_002857.4(PEX19):c.237G>T (p.Leu79=)
|
|
|
NM_002857.4(PEX19):c.27T>C (p.Ser9=)
|
|
|
NM_002857.4(PEX19):c.280T>C (p.Leu94=)
|
|
|
NM_002857.4(PEX19):c.306G>A (p.Val102=)
|
rs2101804535
|
|
NM_002857.4(PEX19):c.30C>A (p.Val10=)
|
|
|
NM_002857.4(PEX19):c.30C>G (p.Val10=)
|
rs144440223
|
|
NM_002857.4(PEX19):c.346+15G>A
|
rs369060714
|
|
NM_002857.4(PEX19):c.346+7A>G
|
rs1657837179
|
|
NM_002857.4(PEX19):c.346+9A>G
|
|
|
NM_002857.4(PEX19):c.347-19C>T
|
rs2101803474
|
|
NM_002857.4(PEX19):c.347-20G>A
|
rs1557854826
|
|
NM_002857.4(PEX19):c.347-5C>T
|
|
|
NM_002857.4(PEX19):c.347-8T>C
|
rs2101803453
|
|
NM_002857.4(PEX19):c.354T>C (p.Asp118=)
|
|
|
NM_002857.4(PEX19):c.360C>T (p.Thr120=)
|
|
|
NM_002857.4(PEX19):c.369A>G (p.Gln123=)
|
rs749676675
|
|
NM_002857.4(PEX19):c.381T>G (p.Ser127=)
|
|
|
NM_002857.4(PEX19):c.387A>G (p.Leu129=)
|
|
|
NM_002857.4(PEX19):c.42G>C (p.Ala14=)
|
rs1357331804
|
|
NM_002857.4(PEX19):c.432+15G>C
|
rs1243733740
|
|
NM_002857.4(PEX19):c.433-10T>C
|
rs2101802831
|
|
NM_002857.4(PEX19):c.433-11G>C
|
rs41265791
|
|
NM_002857.4(PEX19):c.433-15_433-12del
|
|
|
NM_002857.4(PEX19):c.433-9C>T
|
|
|
NM_002857.4(PEX19):c.438C>T (p.Ser146=)
|
|
|
NM_002857.4(PEX19):c.447G>C (p.Ser149=)
|
|
|
NM_002857.4(PEX19):c.477G>A (p.Gly159=)
|
|
|
NM_002857.4(PEX19):c.483C>T (p.Gly161=)
|
|
|
NM_002857.4(PEX19):c.513C>T (p.Ile171=)
|
|
|
NM_002857.4(PEX19):c.543C>T (p.Asn181=)
|
|
|
NM_002857.4(PEX19):c.567C>T (p.Tyr189=)
|
rs2101802465
|
|
NM_002857.4(PEX19):c.573A>C (p.Ser191=)
|
|
|
NM_002857.4(PEX19):c.582G>A (p.Glu194=)
|
rs1571137550
|
|
NM_002857.4(PEX19):c.594+11T>G
|
rs1657789996
|
|
NM_002857.4(PEX19):c.594+15A>G
|
|
|
NM_002857.4(PEX19):c.594+9A>G
|
rs1571137524
|
|
NM_002857.4(PEX19):c.595-14CT[2]
|
rs753492350
|
|
NM_002857.4(PEX19):c.595-20C>T
|
|
|
NM_002857.4(PEX19):c.600A>G (p.Pro200=)
|
|
|
NM_002857.4(PEX19):c.621G>A (p.Arg207=)
|
rs1657714023
|
|
NM_002857.4(PEX19):c.627T>C (p.Ser209=)
|
|
|
NM_002857.4(PEX19):c.630A>C (p.Leu210=)
|
rs202174805
|
|
NM_002857.4(PEX19):c.630A>G (p.Leu210=)
|
rs202174805
|
|
NM_002857.4(PEX19):c.633T>C (p.Pro211=)
|
|
|
NM_002857.4(PEX19):c.654T>C (p.Tyr218=)
|
|
|
NM_002857.4(PEX19):c.69A>G (p.Glu23=)
|
rs1657956169
|
|
NM_002857.4(PEX19):c.6C>T (p.Ala2=)
|
|
|
NM_002857.4(PEX19):c.70+18del
|
rs1254590800
|
|
NM_002857.4(PEX19):c.70+7G>T
|
rs758203051
|
|
NM_002857.4(PEX19):c.70+9C>A
|
rs367604409
|
|
NM_002857.4(PEX19):c.70+9C>G
|
rs367604409
|
|
NM_002857.4(PEX19):c.70+9C>T
|
rs367604409
|
|
NM_002857.4(PEX19):c.70+9_70+10insCGCT
|
rs777854895
|
|
NM_002857.4(PEX19):c.708C>T (p.Thr236=)
|
|
|
NM_002857.4(PEX19):c.71-15C>T
|
|
|
NM_002857.4(PEX19):c.71-15CT[3]
|
rs756418503
|
|
NM_002857.4(PEX19):c.71-16T>C
|
rs2101805960
|
|
NM_002857.4(PEX19):c.771+12T>A
|
rs753423401
|
|
NM_002857.4(PEX19):c.772-12C>T
|
|
|
NM_002857.4(PEX19):c.772-4C>T
|
|
|
NM_002857.4(PEX19):c.772-9del
|
rs2101799481
|
|
NM_002857.4(PEX19):c.774A>G (p.Leu258=)
|
rs1657698317
|
|
NM_002857.4(PEX19):c.816+13T>A
|
rs1432895271
|
|
NM_002857.4(PEX19):c.816+15T>C
|
rs1318227463
|
|
NM_002857.4(PEX19):c.816+20C>T
|
|
|
NM_002857.4(PEX19):c.817-13A>T
|
rs1657690599
|
|
NM_002857.4(PEX19):c.817-18C>T
|
|
|
NM_002857.4(PEX19):c.817-19C>T
|
rs1284493350
|
|
NM_002857.4(PEX19):c.817-6C>T
|
|
|
NM_002857.4(PEX19):c.825C>T (p.Gly275=)
|
|
|
NM_002857.4(PEX19):c.843T>C (p.Asp281=)
|
|
|
NM_004565.3(PEX14):c.1008T>C (p.His336=)
|
|
|
NM_004565.3(PEX14):c.1013_1014inv (p.Asp338Gly)
|
|
|
NM_004565.3(PEX14):c.1020G>A (p.Glu340=)
|
|
|
NM_004565.3(PEX14):c.1032G>A (p.Gly344=)
|
rs11539794
|
|
NM_004565.3(PEX14):c.1035G>C (p.Val345=)
|
|
|
NM_004565.3(PEX14):c.1047C>T (p.Asp349=)
|
rs1285512085
|
|
NM_004565.3(PEX14):c.1068G>A (p.Gln356=)
|
|
|
NM_004565.3(PEX14):c.1083G>A (p.Val361=)
|
|
|
NM_004565.3(PEX14):c.1089G>A (p.Lys363=)
|
|
|
NM_004565.3(PEX14):c.108A>G (p.Leu36=)
|
rs2124482116
|
|
NM_004565.3(PEX14):c.1131C>T (p.Asp377=)
|
rs2124651209
|
|
NM_004565.3(PEX14):c.129G>A (p.Gln43=)
|
|
|
NM_004565.3(PEX14):c.150A>G (p.Arg50=)
|
|
|
NM_004565.3(PEX14):c.15G>A (p.Glu5=)
|
|
|
NM_004565.3(PEX14):c.169+12dup
|
|
|
NM_004565.3(PEX14):c.169+17G>A
|
rs758302680
|
|
NM_004565.3(PEX14):c.252A>T (p.Thr84=)
|
|
|
NM_004565.3(PEX14):c.298+10C>T
|
rs2124602884
|
|
NM_004565.3(PEX14):c.298+11C>G
|
|
|
NM_004565.3(PEX14):c.298+13C>T
|
|
|
NM_004565.3(PEX14):c.298+15C>G
|
rs2124602904
|
|
NM_004565.3(PEX14):c.298+17A>G
|
rs1312717612
|
|
NM_004565.3(PEX14):c.298+7C>T
|
rs1409481387
|
|
NM_004565.3(PEX14):c.299-11C>T
|
|
|
NM_004565.3(PEX14):c.299-19C>T
|
rs2124632871
|
|
NM_004565.3(PEX14):c.299-20C>T
|
|
|
NM_004565.3(PEX14):c.299-7C>T
|
|
|
NM_004565.3(PEX14):c.299-8G>A
|
rs112851814
|
|
NM_004565.3(PEX14):c.306A>G (p.Ala102=)
|
|
|
NM_004565.3(PEX14):c.33C>T (p.Ser11=)
|
rs1276166187
|
|
NM_004565.3(PEX14):c.345C>A (p.Ile115=)
|
|
|
NM_004565.3(PEX14):c.36+14G>A
|
|
|
NM_004565.3(PEX14):c.36+15A>G
|
|
|
NM_004565.3(PEX14):c.36+18G>A
|
|
|
NM_004565.3(PEX14):c.36+18del
|
|
|
NM_004565.3(PEX14):c.36+9A>G
|
|
|
NM_004565.3(PEX14):c.37-15C>A
|
|
|
NM_004565.3(PEX14):c.37-16C>T
|
|
|
NM_004565.3(PEX14):c.37-20del
|
|
|
NM_004565.3(PEX14):c.37-9T>C
|
|
|
NM_004565.3(PEX14):c.384+13_384+14delinsAT
|
rs2124633116
|
|
NM_004565.3(PEX14):c.384+15G>A
|
|
|
NM_004565.3(PEX14):c.384+16C>A
|
rs201704437
|
|
NM_004565.3(PEX14):c.384+16C>G
|
rs201704437
|
|
NM_004565.3(PEX14):c.384+16C>T
|
rs201704437
|
|
NM_004565.3(PEX14):c.384+18G>T
|
rs747804879
|
|
NM_004565.3(PEX14):c.384+20T>G
|
|
|
NM_004565.3(PEX14):c.384+7C>T
|
|
|
NM_004565.3(PEX14):c.385-11G>A
|
|
|
NM_004565.3(PEX14):c.385-11G>C
|
rs377127119
|
|
NM_004565.3(PEX14):c.385-12C>T
|
|
|
NM_004565.3(PEX14):c.385-18C>A
|
rs2124639218
|
|
NM_004565.3(PEX14):c.385-18C>T
|
|
|
NM_004565.3(PEX14):c.385-19C>A
|
rs1355559186
|
|
NM_004565.3(PEX14):c.385-20C>A
|
|
|
NM_004565.3(PEX14):c.385-4G>A
|
rs777256619
|
|
NM_004565.3(PEX14):c.385-8del
|
rs2124639250
|
|
NM_004565.3(PEX14):c.385-9T>A
|
rs758096686
|
|
NM_004565.3(PEX14):c.391C>T (p.Leu131=)
|
|
|
NM_004565.3(PEX14):c.417A>G (p.Arg139=)
|
rs1641641102
|
|
NM_004565.3(PEX14):c.429G>A (p.Lys143=)
|
rs2124639380
|
|
NM_004565.3(PEX14):c.447G>A (p.Glu149=)
|
|
|
NM_004565.3(PEX14):c.450C>G (p.Ala150=)
|
|
|
NM_004565.3(PEX14):c.474C>T (p.Ser158=)
|
rs145867351
|
|
NM_004565.3(PEX14):c.477G>A (p.Val159=)
|
|
|
NM_004565.3(PEX14):c.480C>T (p.Ala160=)
|
|
|
NM_004565.3(PEX14):c.487+12T>C
|
|
|
NM_004565.3(PEX14):c.487+16T>C
|
rs1187391592
|
|
NM_004565.3(PEX14):c.487+17C>G
|
rs756085369
|
|
NM_004565.3(PEX14):c.487+17C>T
|
|
|
NM_004565.3(PEX14):c.487+9T>G
|
rs1641643394
|
|
NM_004565.3(PEX14):c.488-15G>A
|
|
|
NM_004565.3(PEX14):c.48T>C (p.Thr16=)
|
rs779545665
|
|
NM_004565.3(PEX14):c.48T>G (p.Thr16=)
|
rs779545665
|
|
NM_004565.3(PEX14):c.510C>G (p.Leu170=)
|
rs1319304159
|
|
NM_004565.3(PEX14):c.525G>A (p.Glu175=)
|
|
|
NM_004565.3(PEX14):c.543G>A (p.Gln181=)
|
rs1557438039
|
|
NM_004565.3(PEX14):c.585+10T>C
|
|
|
NM_004565.3(PEX14):c.585+11C>T
|
|
|
NM_004565.3(PEX14):c.585+11_585+12del
|
|
|
NM_004565.3(PEX14):c.585+23_585+32dup
|
rs566024461
|
|
NM_004565.3(PEX14):c.586-15G>A
|
|
|
NM_004565.3(PEX14):c.586-18C>T
|
|
|
NM_004565.3(PEX14):c.591C>T (p.Thr197=)
|
rs2124645848
|
|
NM_004565.3(PEX14):c.600C>T (p.Thr200=)
|
rs1375932150
|
|
NM_004565.3(PEX14):c.610C>T (p.Leu204=)
|
|
|
NM_004565.3(PEX14):c.630C>T (p.Asn210=)
|
|
|
NM_004565.3(PEX14):c.639G>A (p.Lys213=)
|
|
|
NM_004565.3(PEX14):c.63T>C (p.Asn21=)
|
|
|
NM_004565.3(PEX14):c.642C>G (p.Ser214=)
|
|
|
NM_004565.3(PEX14):c.657G>A (p.Leu219=)
|
rs1480817199
|
|
NM_004565.3(PEX14):c.670T>C (p.Leu224=)
|
|
|
NM_004565.3(PEX14):c.677+13A>G
|
|
|
NM_004565.3(PEX14):c.678-10C>T
|
rs754096559
|
|
NM_004565.3(PEX14):c.678-12T>C
|
|
|
NM_004565.3(PEX14):c.678-13C>A
|
rs1009879912
|
|
NM_004565.3(PEX14):c.678-18C>G
|
|
|
NM_004565.3(PEX14):c.678-6C>T
|
|
|
NM_004565.3(PEX14):c.699A>G (p.Pro233=)
|
|
|
NM_004565.3(PEX14):c.738G>A (p.Lys246=)
|
rs2124649880
|
|
NM_004565.3(PEX14):c.753C>T (p.Ser251=)
|
|
|
NM_004565.3(PEX14):c.765C>A (p.Ala255=)
|
rs755259929
|
|
NM_004565.3(PEX14):c.765C>T (p.Ala255=)
|
rs755259929
|
|
NM_004565.3(PEX14):c.777C>T (p.His259=)
|
rs1641852488
|
|
NM_004565.3(PEX14):c.813C>A (p.Ser271=)
|
|
|
NM_004565.3(PEX14):c.81G>A (p.Pro27=)
|
rs1557810674
|
|
NM_004565.3(PEX14):c.81G>T (p.Pro27=)
|
|
|
NM_004565.3(PEX14):c.84+11A>G
|
|
|
NM_004565.3(PEX14):c.84+9C>T
|
|
|
NM_004565.3(PEX14):c.843C>T (p.His281=)
|
|
|
NM_004565.3(PEX14):c.849C>G (p.Pro283=)
|
rs752909373
|
|
NM_004565.3(PEX14):c.85-11T>A
|
|
|
NM_004565.3(PEX14):c.85-5A>G
|
|
|
NM_004565.3(PEX14):c.85-6C>T
|
|
|
NM_004565.3(PEX14):c.861G>A (p.Thr287=)
|
rs371329619
|
|
NM_004565.3(PEX14):c.861G>C (p.Thr287=)
|
rs371329619
|
|
NM_004565.3(PEX14):c.861G>T (p.Thr287=)
|
rs371329619
|
|
NM_004565.3(PEX14):c.87T>C (p.Ile29=)
|
|
|
NM_004565.3(PEX14):c.882C>A (p.Gly294=)
|
|
|
NM_004565.3(PEX14):c.882C>T (p.Gly294=)
|
|
|
NM_004565.3(PEX14):c.918G>A (p.Lys306=)
|
|
|
NM_004565.3(PEX14):c.957G>A (p.Lys319=)
|
|
|
NM_004565.3(PEX14):c.969G>A (p.Lys323=)
|
|
|
NM_004565.3(PEX14):c.984T>C (p.Asp328=)
|
rs2124650721
|
|
NM_004565.3(PEX14):c.99G>C (p.Val33=)
|
rs1239507203
|
|
NM_004813.4(PEX16):c.102C>T (p.Tyr34=)
|
rs1293863814
|
|
NM_004813.4(PEX16):c.106C>T (p.Leu36=)
|
|
|
NM_004813.4(PEX16):c.10C>T (p.Leu4=)
|
|
|
NM_004813.4(PEX16):c.112+20T>C
|
|
|
NM_004813.4(PEX16):c.112+9C>G
|
|
|
NM_004813.4(PEX16):c.112+9C>T
|
rs1275087272
|
|
NM_004813.4(PEX16):c.113-10C>G
|
|
|
NM_004813.4(PEX16):c.113-10C>T
|
rs1414680049
|
|
NM_004813.4(PEX16):c.113-11C>G
|
|
|
NM_004813.4(PEX16):c.113-11C>T
|
rs550316466
|
|
NM_004813.4(PEX16):c.113-15G>A
|
|
|
NM_004813.4(PEX16):c.113-15_113-7del
|
rs1184476774
|
|
NM_004813.4(PEX16):c.113-18T>C
|
|
|
NM_004813.4(PEX16):c.113-18_113-16del
|
|
|
NM_004813.4(PEX16):c.113-20C>T
|
|
|
NM_004813.4(PEX16):c.113-21_113-19del
|
|
|
NM_004813.4(PEX16):c.113-5C>T
|
rs2134699177
|
|
NM_004813.4(PEX16):c.113-6C>A
|
|
|
NM_004813.4(PEX16):c.113-9T>C
|
|
|
NM_004813.4(PEX16):c.120C>T (p.Phe40=)
|
|
|
NM_004813.4(PEX16):c.129G>A (p.Ser43=)
|
|
|
NM_004813.4(PEX16):c.129G>T (p.Ser43=)
|
|
|
NM_004813.4(PEX16):c.12G>T (p.Leu4=)
|
|
|
NM_004813.4(PEX16):c.138G>A (p.Leu46=)
|
|
|
NM_004813.4(PEX16):c.13C>A (p.Arg5=)
|
|
|
NM_004813.4(PEX16):c.148+10G>C
|
|
|
NM_004813.4(PEX16):c.148+13C>G
|
|
|
NM_004813.4(PEX16):c.148+18G>A
|
|
|
NM_004813.4(PEX16):c.148+18G>T
|
|
|
NM_004813.4(PEX16):c.148+19G>A
|
|
|
NM_004813.4(PEX16):c.148+9G>T
|
rs905516268
|
|
NM_004813.4(PEX16):c.149-11C>T
|
|
|
NM_004813.4(PEX16):c.149-14T>C
|
|
|
NM_004813.4(PEX16):c.149-15C>G
|
|
|
NM_004813.4(PEX16):c.149-15CT[2]
|
|
|
NM_004813.4(PEX16):c.149-5C>G
|
rs768446035
|
|
NM_004813.4(PEX16):c.149-7C>T
|
|
|
NM_004813.4(PEX16):c.149-9A>G
|
|
|
NM_004813.4(PEX16):c.153C>T (p.Tyr51=)
|
|
|
NM_004813.4(PEX16):c.156T>C (p.Ser52=)
|
|
|
NM_004813.4(PEX16):c.171T>G (p.Leu57=)
|
rs2134697056
|
|
NM_004813.4(PEX16):c.175C>T (p.Leu59=)
|
rs2134697038
|
|
NM_004813.4(PEX16):c.177G>C (p.Leu59=)
|
|
|
NM_004813.4(PEX16):c.189G>A (p.Gly63=)
|
rs756337787
|
|
NM_004813.4(PEX16):c.189G>C (p.Gly63=)
|
rs756337787
|
|
NM_004813.4(PEX16):c.18C>T (p.Leu6=)
|
rs921940265
|
|
NM_004813.4(PEX16):c.192C>T (p.Ile64=)
|
|
|
NM_004813.4(PEX16):c.193C>T (p.Leu65=)
|
|
|
NM_004813.4(PEX16):c.19C>T (p.Leu7=)
|
|
|
NM_004813.4(PEX16):c.225+15A>G
|
|
|
NM_004813.4(PEX16):c.225+16A>G
|
|
|
NM_004813.4(PEX16):c.225+18A>G
|
|
|
NM_004813.4(PEX16):c.226-16C>T
|
|
|
NM_004813.4(PEX16):c.226-21_226-19del
|
|
|
NM_004813.4(PEX16):c.226-6T>C
|
|
|
NM_004813.4(PEX16):c.226-8del
|
|
|
NM_004813.4(PEX16):c.228G>A (p.Ser76=)
|
|
|
NM_004813.4(PEX16):c.237G>A (p.Gln79=)
|
|
|
NM_004813.4(PEX16):c.244C>T (p.Leu82=)
|
|
|
NM_004813.4(PEX16):c.258G>C (p.Leu86=)
|
|
|
NM_004813.4(PEX16):c.261C>T (p.Ser87=)
|
rs780266965
|
|
NM_004813.4(PEX16):c.276G>C (p.Val92=)
|
|
|
NM_004813.4(PEX16):c.303C>A (p.Ala101=)
|
rs80275010
|
|
NM_004813.4(PEX16):c.306G>A (p.Lys102=)
|
|
|
NM_004813.4(PEX16):c.324C>T (p.Gly108=)
|
rs2134695939
|
|
NM_004813.4(PEX16):c.339C>A (p.Ile113=)
|
rs947543439
|
|
NM_004813.4(PEX16):c.339C>T (p.Ile113=)
|
|
|
NM_004813.4(PEX16):c.345_346delinsTA (p.Val116Ile)
|
rs2134695847
|
|
NM_004813.4(PEX16):c.348C>T (p.Val116=)
|
rs886048328
|
|
NM_004813.4(PEX16):c.357C>T (p.Ala119=)
|
rs2134695800
|
|
NM_004813.4(PEX16):c.359+14G>T
|
|
|
NM_004813.4(PEX16):c.359+15T>C
|
|
|
NM_004813.4(PEX16):c.359+16G>A
|
|
|
NM_004813.4(PEX16):c.359+7dup
|
|
|
NM_004813.4(PEX16):c.360-11C>A
|
rs778867878
|
|
NM_004813.4(PEX16):c.360-11C>T
|
|
|
NM_004813.4(PEX16):c.360-13C>T
|
rs373733086
|
|
NM_004813.4(PEX16):c.360-15T>C
|
|
|
NM_004813.4(PEX16):c.360-16A>C
|
|
|
NM_004813.4(PEX16):c.360-17C>T
|
|
|
NM_004813.4(PEX16):c.360-6A>T
|
|
|
NM_004813.4(PEX16):c.369G>A (p.Leu123=)
|
|
|
NM_004813.4(PEX16):c.370C>A (p.Arg124=)
|
|
|
NM_004813.4(PEX16):c.379C>T (p.Leu127=)
|
|
|
NM_004813.4(PEX16):c.387C>G (p.Leu129=)
|
|
|
NM_004813.4(PEX16):c.430C>T (p.Leu144=)
|
|
|
NM_004813.4(PEX16):c.438A>G (p.Arg146=)
|
|
|
NM_004813.4(PEX16):c.460+16A>C
|
|
|
NM_004813.4(PEX16):c.460+17A>G
|
rs1292913105
|
|
NM_004813.4(PEX16):c.460+19C>T
|
|
|
NM_004813.4(PEX16):c.460+9C>T
|
|
|
NM_004813.4(PEX16):c.461-11A>G
|
rs1297070831
|
|
NM_004813.4(PEX16):c.461-12_461-9del
|
|
|
NM_004813.4(PEX16):c.461-15G>A
|
|
|
NM_004813.4(PEX16):c.461-15G>T
|
|
|
NM_004813.4(PEX16):c.461-16T>C
|
|
|
NM_004813.4(PEX16):c.461-17C>A
|
|
|
NM_004813.4(PEX16):c.461-9C>G
|
|
|
NM_004813.4(PEX16):c.461-9C>T
|
rs753312075
|
|
NM_004813.4(PEX16):c.462T>C (p.Asp154=)
|
|
|
NM_004813.4(PEX16):c.468C>T (p.Asp156=)
|
|
|
NM_004813.4(PEX16):c.471C>T (p.His157=)
|
rs2134693951
|
|
NM_004813.4(PEX16):c.489G>A (p.Glu163=)
|
|
|
NM_004813.4(PEX16):c.492G>A (p.Gln164=)
|
|
|
NM_004813.4(PEX16):c.525G>A (p.Val175=)
|
rs936507537
|
|
NM_004813.4(PEX16):c.534C>G (p.Leu178=)
|
rs2134693776
|
|
NM_004813.4(PEX16):c.541+10G>T
|
rs1377019967
|
|
NM_004813.4(PEX16):c.541+12A>T
|
|
|
NM_004813.4(PEX16):c.541+14G>A
|
|
|
NM_004813.4(PEX16):c.541+15T>A
|
rs2134693722
|
|
NM_004813.4(PEX16):c.541+15T>C
|
|
|
NM_004813.4(PEX16):c.541+20G>A
|
|
|
NM_004813.4(PEX16):c.541+8G>A
|
rs1565081217
|
|
NM_004813.4(PEX16):c.542-12C>A
|
|
|
NM_004813.4(PEX16):c.542-12C>G
|
|
|
NM_004813.4(PEX16):c.542-15G>A
|
|
|
NM_004813.4(PEX16):c.542-20C>T
|
|
|
NM_004813.4(PEX16):c.549C>A (p.Ser183=)
|
|
|
NM_004813.4(PEX16):c.549C>T (p.Ser183=)
|
|
|
NM_004813.4(PEX16):c.54C>T (p.His18=)
|
|
|
NM_004813.4(PEX16):c.564C>T (p.His188=)
|
|
|
NM_004813.4(PEX16):c.57G>A (p.Pro19=)
|
|
|
NM_004813.4(PEX16):c.585G>A (p.Arg195=)
|
|
|
NM_004813.4(PEX16):c.594G>A (p.Arg198=)
|
|
|
NM_004813.4(PEX16):c.600G>A (p.Gln200=)
|
rs769604713
|
|
NM_004813.4(PEX16):c.603G>A (p.Gln201=)
|
|
|
NM_004813.4(PEX16):c.618G>A (p.Leu206=)
|
|
|
NM_004813.4(PEX16):c.627C>T (p.Thr209=)
|
|
|
NM_004813.4(PEX16):c.630C>T (p.Pro210=)
|
|
|
NM_004813.4(PEX16):c.633C>A (p.Thr211=)
|
|
|
NM_004813.4(PEX16):c.633C>G (p.Thr211=)
|
|
|
NM_004813.4(PEX16):c.636C>A (p.Pro212=)
|
|
|
NM_004813.4(PEX16):c.636C>G (p.Pro212=)
|
|
|
NM_004813.4(PEX16):c.643C>T (p.Leu215=)
|
|
|
NM_004813.4(PEX16):c.654C>T (p.Thr218=)
|
|
|
NM_004813.4(PEX16):c.666T>C (p.Phe222=)
|
|
|
NM_004813.4(PEX16):c.672C>T (p.Tyr224=)
|
rs746173483
|
|
NM_004813.4(PEX16):c.675T>C (p.Ile225=)
|
|
|
NM_004813.4(PEX16):c.681G>A (p.Arg227=)
|
|
|
NM_004813.4(PEX16):c.684G>C (p.Pro228=)
|
|
|
NM_004813.4(PEX16):c.684G>T (p.Pro228=)
|
|
|
NM_004813.4(PEX16):c.685C>T (p.Leu229=)
|
|
|
NM_004813.4(PEX16):c.688C>T (p.Leu230=)
|
rs2134692881
|
|
NM_004813.4(PEX16):c.694+13C>T
|
rs763001456
|
|
NM_004813.4(PEX16):c.694+17del
|
rs775951837
|
|
NM_004813.4(PEX16):c.694+20G>A
|
rs2134692802
|
|
NM_004813.4(PEX16):c.694+7T>A
|
rs2134692830
|
|
NM_004813.4(PEX16):c.695-13C>A
|
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|
NM_004813.4(PEX16):c.695-14G>A
|
|
|
NM_004813.4(PEX16):c.695-18dup
|
|
|
NM_004813.4(PEX16):c.695-4T>C
|
|
|
NM_004813.4(PEX16):c.695-7C>T
|
|
|
NM_004813.4(PEX16):c.699C>G (p.Leu233=)
|
|
|
NM_004813.4(PEX16):c.703C>T (p.Leu235=)
|
|
|
NM_004813.4(PEX16):c.705G>C (p.Leu235=)
|
|
|
NM_004813.4(PEX16):c.726G>T (p.Ser242=)
|
rs200414298
|
|
NM_004813.4(PEX16):c.732A>G (p.Lys244=)
|
|
|
NM_004813.4(PEX16):c.735C>G (p.Pro245=)
|
|
|
NM_004813.4(PEX16):c.742T>C (p.Leu248=)
|
|
|
NM_004813.4(PEX16):c.767+14T>C
|
|
|
NM_004813.4(PEX16):c.767+15G>C
|
rs770254589
|
|
NM_004813.4(PEX16):c.767+15G>T
|
|
|
NM_004813.4(PEX16):c.767+16C>T
|
|
|
NM_004813.4(PEX16):c.767+20G>A
|
|
|
NM_004813.4(PEX16):c.767+20G>T
|
|
|
NM_004813.4(PEX16):c.767+7_767+10dup
|
|
|
NM_004813.4(PEX16):c.767+8T>C
|
|
|
NM_004813.4(PEX16):c.768-14T>A
|
|
|
NM_004813.4(PEX16):c.768-15C>T
|
rs1198116131
|
|
NM_004813.4(PEX16):c.768-18G>A
|
rs374677338
|
|
NM_004813.4(PEX16):c.768-18G>T
|
rs374677338
|
|
NM_004813.4(PEX16):c.768-20_768-18del
|
|
|
NM_004813.4(PEX16):c.768-8C>A
|
|
|
NM_004813.4(PEX16):c.771G>A (p.Leu257=)
|
|
|
NM_004813.4(PEX16):c.774C>T (p.Ser258=)
|
rs1031968916
|
|
NM_004813.4(PEX16):c.778C>T (p.Leu260=)
|
|
|
NM_004813.4(PEX16):c.786C>T (p.Asp262=)
|
|
|
NM_004813.4(PEX16):c.792G>A (p.Lys264=)
|
|
|
NM_004813.4(PEX16):c.796C>T (p.Leu266=)
|
rs2134691972
|
|
NM_004813.4(PEX16):c.798G>A (p.Leu266=)
|
|
|
NM_004813.4(PEX16):c.801C>G (p.Thr267=)
|
|
|
NM_004813.4(PEX16):c.807G>A (p.Arg269=)
|
|
|
NM_004813.4(PEX16):c.810G>A (p.Glu270=)
|
|
|
NM_004813.4(PEX16):c.825G>A (p.Arg275=)
|
|
|
NM_004813.4(PEX16):c.825G>C (p.Arg275=)
|
rs965837945
|
|
NM_004813.4(PEX16):c.825G>T (p.Arg275=)
|
|
|
NM_004813.4(PEX16):c.828C>T (p.Arg276=)
|
|
|
NM_004813.4(PEX16):c.834C>T (p.Thr278=)
|
|
|
NM_004813.4(PEX16):c.855G>C (p.Leu285=)
|
|
|
NM_004813.4(PEX16):c.887+10C>T
|
|
|
NM_004813.4(PEX16):c.887+14A>G
|
|
|
NM_004813.4(PEX16):c.887+8C>T
|
|
|
NM_004813.4(PEX16):c.888-10C>T
|
|
|
NM_004813.4(PEX16):c.888-11G>C
|
|
|
NM_004813.4(PEX16):c.888-12T>G
|
rs1565079258
|
|
NM_004813.4(PEX16):c.888-14A>G
|
|
|
NM_004813.4(PEX16):c.888-17T>C
|
|
|
NM_004813.4(PEX16):c.888-9C>A
|
|
|
NM_004813.4(PEX16):c.891C>G (p.Ala297=)
|
|
|
NM_004813.4(PEX16):c.891C>T (p.Ala297=)
|
rs2086772585
|
|
NM_004813.4(PEX16):c.897C>T (p.Ile299=)
|
|
|
NM_004813.4(PEX16):c.900C>T (p.Leu300=)
|
|
|
NM_004813.4(PEX16):c.903C>T (p.Phe301=)
|
|
|
NM_004813.4(PEX16):c.906G>C (p.Leu302=)
|
rs2086772343
|
|
NM_004813.4(PEX16):c.913T>C (p.Leu305=)
|
|
|
NM_004813.4(PEX16):c.918G>A (p.Leu306=)
|
|
|
NM_004813.4(PEX16):c.921C>G (p.Ala307=)
|
|
|
NM_004813.4(PEX16):c.927C>T (p.His309=)
|
|
|
NM_004813.4(PEX16):c.933T>A (p.Pro311=)
|
|
|
NM_004813.4(PEX16):c.933T>G (p.Pro311=)
|
|
|
NM_004813.4(PEX16):c.936C>G (p.Gly312=)
|
|
|
NM_004813.4(PEX16):c.936C>T (p.Gly312=)
|
|
|
NM_004813.4(PEX16):c.93C>T (p.Gly31=)
|
|
|
NM_004813.4(PEX16):c.942C>A (p.Gly314=)
|
|
|
NM_004813.4(PEX16):c.942C>T (p.Gly314=)
|
|
|
NM_004813.4(PEX16):c.945G>A (p.Leu315=)
|
rs2086770676
|
|
NM_004813.4(PEX16):c.945G>C (p.Leu315=)
|
|
|
NM_004813.4(PEX16):c.948C>T (p.Val316=)
|
|
|
NM_004813.4(PEX16):c.952+10G>A
|
rs989867106
|
|
NM_004813.4(PEX16):c.952+12T>C
|
|
|
NM_004813.4(PEX16):c.952+19G>C
|
|
|
NM_004813.4(PEX16):c.952+19G>T
|
|
|
NM_004813.4(PEX16):c.952+20C>G
|
|
|
NM_004813.4(PEX16):c.952+9G>A
|
|
|
NM_004813.4(PEX16):c.953-12C>G
|
|
|
NM_004813.4(PEX16):c.953-12C>T
|
|
|
NM_004813.4(PEX16):c.953-15C>T
|
|
|
NM_004813.4(PEX16):c.953-20G>A
|
|
|
NM_004813.4(PEX16):c.953-4G>T
|
|
|
NM_004813.4(PEX16):c.953-8C>T
|
|
|
NM_004813.4(PEX16):c.953-9C>T
|
|
|
NM_004813.4(PEX16):c.966T>C (p.Asp322=)
|
|
|
NM_004813.4(PEX16):c.972G>A (p.Leu324=)
|
|
|
NM_004813.4(PEX16):c.975C>T (p.Pro325=)
|
rs2134685494
|
|
NM_004813.4(PEX16):c.978C>G (p.Thr326=)
|
|
|
NM_144709.4(PUS10):c.-16+139G>T
|
|
|
NM_144709.4(PUS10):c.-16+141A>C
|
|
|
NM_144709.4(PUS10):c.-16+147C>T
|
rs1387361776
|
|
NM_144709.4(PUS10):c.-16+150C>A
|
|
|