NM_004813.4(PEX16):c.346G>A (p.Val116Ile)
|
rs10742772
|
0.99994
|
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg)
|
rs10087163
|
0.98578
|
NM_000288.4(PEX7):c.340-71G>A
|
rs927181
|
0.98050
|
NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
NM_000466.3(PEX1):c.358-15G>A
|
rs38809
|
0.86650
|
NM_004813.4(PEX16):c.542-16C>T
|
rs3802758
|
0.80104
|
NM_004813.4(PEX16):c.873T>C (p.Tyr291=)
|
rs1132349
|
0.79011
|
NM_002617.4(PEX10):c.291A>G (p.Thr97=)
|
rs2494598
|
0.74152
|
NM_004565.3(PEX14):c.84+8231A>G
|
rs10864459
|
0.59806
|
NM_000287.4(PEX6):c.1961+20G>A
|
rs2274514
|
0.56870
|
NM_000287.4(PEX6):c.2814G>A (p.Glu938=)
|
rs1129186
|
0.56758
|
NM_000287.4(PEX6):c.399G>T (p.Val133=)
|
rs9462858
|
0.40569
|
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)
|
rs1129187
|
0.40479
|
NM_000287.4(PEX6):c.883-3T>C
|
rs9986447
|
0.36088
|
NM_004565.3(PEX14):c.84+10837A>G
|
rs616488
|
0.27206
|
NM_004565.3(PEX14):c.156C>T (p.Phe52=)
|
rs12375
|
0.25602
|
NM_004565.3(PEX14):c.384+14A>T
|
rs284238
|
0.19360
|
NM_004565.3(PEX14):c.1032G>T (p.Gly344=)
|
rs11539794
|
0.13336
|
NM_000466.3(PEX1):c.-137T>C
|
rs12386601
|
0.12381
|
NM_002617.4(PEX10):c.913-4G>A
|
rs11586985
|
0.08566
|
NM_000466.3(PEX1):c.-53C>G
|
rs12386703
|
0.07798
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
NM_000287.4(PEX6):c.2364G>A (p.Val788=)
|
rs2274515
|
0.06152
|
NM_002617.4(PEX10):c.279C>T (p.Gly93=)
|
rs1143016
|
0.05120
|
NM_004565.3(PEX14):c.1014C>T (p.Asp338=)
|
rs2128414
|
0.04291
|
NM_000466.3(PEX1):c.358-11G>C
|
rs113104510
|
0.04153
|
NM_000318.3(PEX2):c.24G>A (p.Ala8=)
|
rs9298285
|
0.03660
|
NM_000466.3(PEX1):c.473-18G>A
|
rs2066743
|
0.03344
|
NM_000466.3(PEX1):c.2584-20T>A
|
rs111535201
|
0.02687
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
NM_002857.4(PEX19):c.433-11G>T
|
rs41265791
|
0.02551
|
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr)
|
rs112108739
|
0.02536
|
NM_000466.3(PEX1):c.3439-14_3439-13del
|
rs150005994
|
0.02536
|
NM_004813.4(PEX16):c.303C>T (p.Ala101=)
|
rs80275010
|
0.02501
|
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val)
|
rs74350038
|
0.02423
|
NM_004565.3(PEX14):c.475G>A (p.Val159Met)
|
rs74052157
|
0.02375
|
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)
|
rs76708142
|
0.02223
|
NM_000287.4(PEX6):c.207C>T (p.Pro69=)
|
rs11539736
|
0.02141
|
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)
|
rs2274516
|
0.02086
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_004813.4(PEX16):c.307G>A (p.Val103Met)
|
rs11553094
|
0.01821
|
NM_004813.4(PEX16):c.760G>C (p.Val254Leu)
|
rs35214605
|
0.01652
|
NM_000318.3(PEX2):c.550= (p.Cys184=)
|
rs10087163
|
0.01422
|
NM_002857.4(PEX19):c.879T>C (p.Gly293=)
|
rs74125561
|
0.01375
|
NM_004565.3(PEX14):c.513C>A (p.Ala171=)
|
rs35046754
|
0.01363
|
NM_000466.3(PEX1):c.1671-7T>C
|
rs74519968
|
0.01312
|
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln)
|
rs111282915
|
0.01262
|
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_000286.3(PEX12):c.733T>A (p.Leu245Ile)
|
rs12941376
|
0.00945
|
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys)
|
rs12070353
|
0.00912
|
NM_004565.3(PEX14):c.213C>G (p.Gly71=)
|
rs41274482
|
0.00899
|
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser)
|
rs138183109
|
0.00874
|
NM_002617.4(PEX10):c.843G>A (p.Arg281=)
|
rs35082957
|
0.00846
|
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)
|
rs112822975
|
0.00803
|
NM_000466.3(PEX1):c.2901G>A (p.Gln967=)
|
rs111704518
|
0.00792
|
NM_001351132.2(PEX5):c.998G>A (p.Arg333His)
|
rs59209175
|
0.00776
|
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly)
|
rs116059308
|
0.00690
|
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)
|
rs115960224
|
0.00687
|
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val)
|
rs115180949
|
0.00686
|
NM_002617.4(PEX10):c.685G>C (p.Val229Leu)
|
rs139345520
|
0.00686
|
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_000286.3(PEX12):c.867C>T (p.Asp289=)
|
rs138720627
|
0.00647
|
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=)
|
rs115338343
|
0.00644
|
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser)
|
rs34551839
|
0.00619
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_000287.4(PEX6):c.813G>T (p.Ala271=)
|
rs35503676
|
0.00583
|
NM_000466.3(PEX1):c.3720C>T (p.His1240=)
|
rs34825053
|
0.00582
|
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro)
|
rs35426403
|
0.00554
|
NM_004565.3(PEX14):c.504G>A (p.Thr168=)
|
rs146781531
|
0.00548
|
NM_004813.4(PEX16):c.952+18C>T
|
rs112068553
|
0.00535
|
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_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00486
|
NM_000287.4(PEX6):c.1479+11C>T
|
rs114137311
|
0.00471
|
NM_004565.3(PEX14):c.795A>G (p.Ser265=)
|
rs41274484
|
0.00451
|
NM_002857.4(PEX19):c.771+3A>G
|
rs141133579
|
0.00429
|
NM_004813.4(PEX16):c.943C>T (p.Leu315=)
|
rs150774189
|
0.00426
|
NM_001127649.3(PEX26):c.815-13C>T
|
rs139370593
|
0.00381
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_000287.4(PEX6):c.1071A>G (p.Leu357=)
|
rs116318004
|
0.00363
|
NM_002617.4(PEX10):c.621C>G (p.Pro207=)
|
rs140107510
|
0.00350
|
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser)
|
rs12061667
|
0.00324
|
NM_004565.3(PEX14):c.299-16C>T
|
rs201545377
|
0.00297
|
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_000288.4(PEX7):c.526+14T>C
|
rs73777756
|
0.00279
|
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_004565.3(PEX14):c.170-13C>T
|
rs182967518
|
0.00222
|
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=)
|
rs150761638
|
0.00221
|
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_000466.3(PEX1):c.473-3C>T
|
rs150576000
|
0.00213
|
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu)
|
rs149102738
|
0.00209
|
NM_002857.4(PEX19):c.261C>T (p.Phe87=)
|
rs146644725
|
0.00206
|
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_001127649.3(PEX26):c.325T>C (p.Tyr109His)
|
rs45567240
|
0.00190
|
NM_000287.4(PEX6):c.882+15_882+16del
|
rs555409430
|
0.00189
|
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)
|
rs139054881
|
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_004565.3(PEX14):c.825G>A (p.Ser275=)
|
rs143412169
|
0.00179
|
NM_000287.4(PEX6):c.2436G>A (p.Arg812=)
|
rs61732156
|
0.00178
|
NM_000318.3(PEX2):c.477G>A (p.Gln159=)
|
rs35218706
|
0.00178
|
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_000466.3(PEX1):c.1588-20A>G
|
rs201298666
|
0.00159
|
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_002617.4(PEX10):c.495C>T (p.Phe165=)
|
rs150344828
|
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_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_001351132.2(PEX5):c.471C>T (p.Ala157=)
|
rs144331955
|
0.00108
|
NM_004565.3(PEX14):c.36+8G>A
|
rs200154696
|
0.00107
|
NM_002618.4(PEX13):c.1044T>C (p.Val348=)
|
rs151304822
|
0.00106
|
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala)
|
rs77261230
|
0.00105
|
NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp)
|
rs200020561
|
0.00103
|
NM_002617.4(PEX10):c.601-27A>G
|
rs144264865
|
0.00103
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln)
|
rs34194489
|
0.00098
|
NM_002857.4(PEX19):c.459G>A (p.Leu153=)
|
rs78340311
|
0.00098
|
NM_004565.3(PEX14):c.267C>G (p.Val89=)
|
rs146359055
|
0.00097
|
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser)
|
rs147870525
|
0.00096
|
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_002857.4(PEX19):c.16G>A (p.Glu6Lys)
|
rs145845197
|
0.00093
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)
|
rs149153003
|
0.00083
|
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_000287.4(PEX6):c.1491C>T (p.Ser497=)
|
rs79238506
|
0.00079
|
NM_000288.4(PEX7):c.130+11G>A
|
rs886061119
|
0.00079
|
NM_002857.4(PEX19):c.564G>A (p.Leu188=)
|
rs149058086
|
0.00078
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
NM_002618.4(PEX13):c.141A>G (p.Ala47=)
|
rs79842991
|
0.00075
|
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_000287.4(PEX6):c.853C>G (p.Pro285Ala)
|
rs61753220
|
0.00067
|
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_004565.3(PEX14):c.1116C>T (p.Asn372=)
|
rs149856184
|
0.00066
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe)
|
rs146354196
|
0.00064
|
NM_000318.3(PEX2):c.237A>G (p.Ser79=)
|
rs138220337
|
0.00063
|
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)
|
rs138232280
|
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_004565.3(PEX14):c.474C>A (p.Ser158Arg)
|
rs145867351
|
0.00057
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
NM_001351132.2(PEX5):c.1872C>T (p.Asp624=)
|
rs148914171
|
0.00053
|
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
|
rs780369944
|
0.00052
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
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.384+17G>A
|
rs199913711
|
0.00048
|
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)
|
rs146567534
|
0.00047
|
NM_004565.3(PEX14):c.78G>A (p.Glu26=)
|
rs144664869
|
0.00047
|
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)
|
rs140963177
|
0.00046
|
NM_001127649.3(PEX26):c.667+8A>G
|
rs200880379
|
0.00046
|
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)
|
rs76530653
|
0.00045
|
NM_001351132.2(PEX5):c.552-7G>A
|
rs189631769
|
0.00044
|
NM_004813.4(PEX16):c.543G>A (p.Thr181=)
|
rs144063598
|
0.00044
|
NM_000318.3(PEX2):c.322G>C (p.Val108Leu)
|
rs148101729
|
0.00043
|
NM_002617.4(PEX10):c.627G>A (p.Glu209=)
|
rs141430704
|
0.00043
|
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr)
|
rs145568490
|
0.00043
|
NM_002857.4(PEX19):c.255G>A (p.Ala85=)
|
rs150928521
|
0.00043
|
NM_000288.4(PEX7):c.748-16C>T
|
rs200965122
|
0.00042
|
NM_000287.4(PEX6):c.1234-11A>G
|
rs201879957
|
0.00041
|
NM_002857.4(PEX19):c.254C>T (p.Ala85Val)
|
rs11550119
|
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_000287.4(PEX6):c.503C>T (p.Pro168Leu)
|
rs200026148
|
0.00037
|
NM_001127649.3(PEX26):c.895dup (p.Tyr299fs)
|
rs759821636
|
0.00036
|
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_001351132.2(PEX5):c.371C>G (p.Ala124Gly)
|
rs143307183
|
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_002617.4(PEX10):c.812C>T (p.Pro271Leu)
|
rs142088776
|
0.00034
|
NM_002857.4(PEX19):c.347-13T>A
|
rs371091340
|
0.00034
|
NM_004565.3(PEX14):c.567C>T (p.His189=)
|
rs147210317
|
0.00033
|
NM_000288.4(PEX7):c.94C>T (p.Leu32=)
|
rs886061118
|
0.00032
|
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_000318.3(PEX2):c.304C>A (p.Gln102Lys)
|
rs200065382
|
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_001351132.2(PEX5):c.590C>T (p.Thr197Met)
|
rs144897942
|
0.00029
|
NM_002617.4(PEX10):c.316C>T (p.Leu106=)
|
rs140340426
|
0.00029
|
NM_002857.4(PEX19):c.878G>C (p.Gly293Ala)
|
rs139875266
|
0.00029
|
NM_004565.3(PEX14):c.1098G>T (p.Arg366=)
|
rs139610784
|
0.00029
|
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln)
|
rs147683525
|
0.00029
|
NM_004565.3(PEX14):c.451G>A (p.Gly151Ser)
|
rs145888212
|
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_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.317-15T>C
|
rs187839532
|
0.00027
|
NM_000287.4(PEX6):c.1884+3G>A
|
rs377041406
|
0.00026
|
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.461A>G (p.Asp154Gly)
|
rs140695185
|
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.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_002617.4(PEX10):c.622G>A (p.Gly208Arg)
|
rs138489241
|
0.00025
|
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)
|
rs778791031
|
0.00024
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
NM_000466.3(PEX1):c.3526G>T (p.Val1176Leu)
|
rs200059929
|
0.00024
|
NM_002617.4(PEX10):c.116C>T (p.Ala39Val)
|
rs149421567
|
0.00024
|
NM_004565.3(PEX14):c.84+17T>C
|
rs373584636
|
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_000318.3(PEX2):c.698G>A (p.Ser233Asn)
|
rs200868032
|
0.00022
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg)
|
rs200720523
|
0.00022
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe)
|
rs60203778
|
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_000287.4(PEX6):c.1303C>A (p.Pro435Thr)
|
rs115186444
|
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_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_002617.4(PEX10):c.220G>A (p.Val74Ile)
|
rs768438726
|
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_004813.4(PEX16):c.832A>G (p.Thr278Ala)
|
rs765797303
|
0.00019
|
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)
|
rs539784253
|
0.00018
|
NM_001127649.3(PEX26):c.716T>C (p.Leu239Pro)
|
rs757411841
|
0.00018
|
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_004813.4(PEX16):c.814C>T (p.Arg272Trp)
|
rs560024236
|
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_001351132.2(PEX5):c.316+3G>A
|
rs200776790
|
0.00017
|
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)
|
rs201699810
|
0.00017
|
NM_004813.4(PEX16):c.196C>T (p.Arg66Trp)
|
rs767624302
|
0.00017
|
NM_004813.4(PEX16):c.24C>T (p.Gly8=)
|
rs368789483
|
0.00017
|
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala)
|
rs146025917
|
0.00016
|
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)
|
rs142899308
|
0.00016
|
NM_000287.4(PEX6):c.2806+15G>A
|
rs370445298
|
0.00016
|
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu)
|
rs139093654
|
0.00016
|
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
|
rs141510219
|
0.00016
|
NM_000466.3(PEX1):c.2876G>A (p.Arg959Gln)
|
rs773206107
|
0.00016
|
NM_000466.3(PEX1):c.293C>T (p.Ser98Phe)
|
rs369100815
|
0.00016
|
NM_000466.3(PEX1):c.3439-16A>G
|
rs563019269
|
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.670G>A (p.Glu224Lys)
|
rs767347186
|
0.00016
|
NM_001351132.2(PEX5):c.705G>A (p.Ser235=)
|
rs184234003
|
0.00016
|
NM_002617.4(PEX10):c.424C>T (p.Arg142Trp)
|
rs372914003
|
0.00016
|
NM_002857.4(PEX19):c.21C>G (p.Gly7=)
|
rs140039683
|
0.00016
|
NM_002857.4(PEX19):c.845C>T (p.Ala282Val)
|
rs373092548
|
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_001127649.3(PEX26):c.882A>G (p.Ala294=)
|
rs751507771
|
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.1249G>A (p.Asp417Asn)
|
rs143273433
|
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.1395C>A (p.Asp465Glu)
|
rs772561166
|
0.00014
|
NM_001351132.2(PEX5):c.1548C>T (p.Ser516=)
|
rs143571888
|
0.00014
|
NM_002617.4(PEX10):c.275G>A (p.Arg92His)
|
rs375649043
|
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_002617.4(PEX10):c.967C>T (p.Arg323Trp)
|
rs148903253
|
0.00014
|
NM_004565.3(PEX14):c.303C>T (p.Pro101=)
|
rs199552789
|
0.00014
|
NM_000286.3(PEX12):c.931C>T (p.Arg311Trp)
|
rs373666248
|
0.00013
|
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr)
|
rs61753226
|
0.00013
|
NM_000466.3(PEX1):c.1271T>C (p.Ile424Thr)
|
rs201807430
|
0.00013
|
NM_000466.3(PEX1):c.891A>G (p.Ile297Met)
|
rs143206380
|
0.00013
|
NM_001127649.3(PEX26):c.501G>A (p.Val167=)
|
rs201666490
|
0.00013
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
NM_001351132.2(PEX5):c.1897A>C (p.Thr633Pro)
|
rs200471952
|
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_004813.4(PEX16):c.877C>T (p.Arg293Cys)
|
rs544053792
|
0.00013
|
NM_000286.3(PEX12):c.127-19T>C
|
rs1008239545
|
0.00012
|
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp)
|
rs368752843
|
0.00012
|
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro)
|
rs267608235
|
0.00012
|
NM_000288.4(PEX7):c.28C>T (p.Arg10Trp)
|
rs1321528623
|
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_000286.3(PEX12):c.793T>C (p.Tyr265His)
|
rs142726996
|
0.00011
|
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu)
|
rs925593750
|
0.00011
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
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.2060G>A (p.Arg687Gln)
|
rs201443294
|
0.00011
|
NM_000466.3(PEX1):c.2954G>A (p.Arg985His)
|
rs202057449
|
0.00011
|
NM_000466.3(PEX1):c.88C>T (p.His30Tyr)
|
rs375045292
|
0.00011
|
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp)
|
rs150451390
|
0.00011
|
NM_001351132.2(PEX5):c.1439G>A (p.Arg480Gln)
|
rs759523235
|
0.00011
|
NM_001351132.2(PEX5):c.1522G>A (p.Val508Met)
|
rs138028549
|
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_001351132.2(PEX5):c.496C>G (p.Gln166Glu)
|
rs751043763
|
0.00011
|
NM_001351132.2(PEX5):c.680T>C (p.Val227Ala)
|
rs777842778
|
0.00011
|
NM_002617.4(PEX10):c.268C>T (p.Leu90=)
|
rs775772867
|
0.00011
|
NM_002617.4(PEX10):c.361C>A (p.Pro121Thr)
|
rs1056200158
|
0.00011
|
NM_002617.4(PEX10):c.583C>T (p.Leu195Phe)
|
rs116354317
|
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_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)
|
rs200413804
|
0.00010
|
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile)
|
rs145335409
|
0.00010
|
NM_000287.4(PEX6):c.2783G>A (p.Arg928His)
|
rs201265954
|
0.00010
|
NM_000287.4(PEX6):c.643C>A (p.Leu215Ile)
|
rs865933425
|
0.00010
|
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg)
|
rs199697021
|
0.00010
|
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.120C>G (p.Tyr40Ter)
|
rs61753238
|
0.00010
|
NM_000288.4(PEX7):c.526+19A>G
|
rs760557944
|
0.00010
|
NM_000318.3(PEX2):c.152G>A (p.Arg51His)
|
rs549242503
|
0.00010
|
NM_000466.3(PEX1):c.2509C>T (p.Leu837=)
|
rs371701421
|
0.00010
|
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg)
|
rs200306465
|
0.00010
|
NM_000466.3(PEX1):c.666T>C (p.Thr222=)
|
rs145609203
|
0.00010
|
NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu)
|
rs368118099
|
0.00010
|
NM_001351132.2(PEX5):c.1549G>A (p.Val517Ile)
|
rs201596535
|
0.00010
|
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=)
|
rs200215904
|
0.00010
|
NM_001351132.2(PEX5):c.317-8C>T
|
rs368648650
|
0.00010
|
NM_002617.4(PEX10):c.485G>A (p.Arg162Gln)
|
rs756297578
|
0.00010
|
NM_002617.4(PEX10):c.895G>A (p.Ala299Thr)
|
rs371030713
|
0.00010
|
NM_002618.4(PEX13):c.1180A>T (p.Ile394Phe)
|
rs376560254
|
0.00010
|
NM_002857.4(PEX19):c.262G>A (p.Glu88Lys)
|
rs372422266
|
0.00010
|
NM_002857.4(PEX19):c.546A>G (p.Leu182=)
|
rs138837673
|
0.00010
|
NM_002857.4(PEX19):c.857C>G (p.Ser286Trp)
|
rs149976198
|
0.00010
|
NM_004565.3(PEX14):c.18G>C (p.Gln6His)
|
rs200395336
|
0.00010
|
NM_004565.3(PEX14):c.488-4G>A
|
rs376837541
|
0.00010
|
NM_004565.3(PEX14):c.818C>T (p.Ser273Leu)
|
rs149801951
|
0.00010
|
NM_004813.4(PEX16):c.499G>A (p.Val167Met)
|
rs147332976
|
0.00010
|
NM_000286.3(PEX12):c.306A>T (p.Arg102Ser)
|
rs563487343
|
0.00009
|
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln)
|
rs138431842
|
0.00009
|
NM_000287.4(PEX6):c.1637G>A (p.Arg546His)
|
rs201061728
|
0.00009
|
NM_000287.4(PEX6):c.1773C>T (p.Leu591=)
|
rs56328719
|
0.00009
|
NM_000466.3(PEX1):c.2227-7T>C
|
rs767127036
|
0.00009
|
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg)
|
rs371136331
|
0.00009
|
NM_001127649.3(PEX26):c.33C>G (p.Pro11=)
|
rs199668827
|
0.00009
|
NM_001127649.3(PEX26):c.886T>C (p.Ser296Pro)
|
rs143243841
|
0.00009
|
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=)
|
rs138243167
|
0.00009
|
NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys)
|
rs759334733
|
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.610A>G (p.Lys204Glu)
|
rs149289353
|
0.00009
|
NM_001351132.2(PEX5):c.754-5C>T
|
rs377379933
|
0.00009
|
NM_002617.4(PEX10):c.427C>T (p.Arg143Cys)
|
rs199667764
|
0.00009
|
NM_002617.4(PEX10):c.760G>A (p.Gly254Ser)
|
rs761942658
|
0.00009
|
NM_002618.4(PEX13):c.113C>A (p.Thr38Asn)
|
rs763566050
|
0.00009
|
NM_002618.4(PEX13):c.24C>A (p.Pro8=)
|
rs774943691
|
0.00009
|
NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys)
|
rs200211896
|
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.488-14C>T
|
rs200684088
|
0.00009
|
NM_004565.3(PEX14):c.766G>A (p.Val256Met)
|
rs143378690
|
0.00009
|
NM_004565.3(PEX14):c.884C>A (p.Pro295His)
|
rs545357144
|
0.00009
|
NM_004813.4(PEX16):c.262G>A (p.Val88Met)
|
rs567165324
|
0.00009
|
NM_004813.4(PEX16):c.458C>T (p.Pro153Leu)
|
rs779813719
|
0.00009
|
NM_004813.4(PEX16):c.946G>A (p.Val316Ile)
|
rs775371916
|
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_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00008
|
NM_001127649.3(PEX26):c.635G>T (p.Gly212Val)
|
rs769550692
|
0.00008
|
NM_001351132.2(PEX5):c.1869C>T (p.Ala623=)
|
rs755919579
|
0.00008
|
NM_001351132.2(PEX5):c.472C>T (p.Arg158Cys)
|
rs747679909
|
0.00008
|
NM_001351132.2(PEX5):c.642+6C>T
|
rs376779359
|
0.00008
|
NM_001351132.2(PEX5):c.655G>A (p.Val219Met)
|
rs144508802
|
0.00008
|
NM_001351132.2(PEX5):c.659G>A (p.Arg220Gln)
|
rs148417349
|
0.00008
|
NM_002617.4(PEX10):c.576C>G (p.Ala192=)
|
rs376805362
|
0.00008
|
NM_002617.4(PEX10):c.704dup (p.Leu236fs)
|
rs61750435
|
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_004565.3(PEX14):c.84G>A (p.Leu28=)
|
rs551147900
|
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.2104G>A (p.Val702Met)
|
rs377421228
|
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_000318.3(PEX2):c.769A>G (p.Ile257Val)
|
rs199874465
|
0.00007
|
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val)
|
rs561561515
|
0.00007
|
NM_000466.3(PEX1):c.1659G>C (p.Leu553=)
|
rs562108145
|
0.00007
|
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu)
|
rs141509344
|
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_000466.3(PEX1):c.3398C>T (p.Ser1133Phe)
|
rs185115432
|
0.00007
|
NM_001351132.2(PEX5):c.1030C>T (p.Arg344Trp)
|
rs145762725
|
0.00007
|
NM_001351132.2(PEX5):c.1182-9A>T
|
rs375860970
|
0.00007
|
NM_001351132.2(PEX5):c.1435G>C (p.Val479Leu)
|
rs751226125
|
0.00007
|
NM_001351132.2(PEX5):c.356C>T (p.Ala119Val)
|
rs745341735
|
0.00007
|
NM_002617.4(PEX10):c.36C>T (p.Ile12=)
|
rs952907703
|
0.00007
|
NM_002617.4(PEX10):c.527G>A (p.Arg176Gln)
|
rs184150138
|
0.00007
|
NM_002618.4(PEX13):c.86C>G (p.Thr29Ser)
|
rs543856265
|
0.00007
|
NM_004565.3(PEX14):c.1107C>T (p.Gly369=)
|
rs781098256
|
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.745A>G (p.Thr249Ala)
|
rs371597789
|
0.00006
|
NM_000286.3(PEX12):c.763G>A (p.Val255Ile)
|
rs746089337
|
0.00006
|
NM_000286.3(PEX12):c.834C>T (p.Ala278=)
|
rs755457602
|
0.00006
|
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln)
|
rs371782808
|
0.00006
|
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys)
|
rs750452619
|
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.126C>T (p.Ile42=)
|
rs1464741803
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000288.4(PEX7):c.418-3T>C
|
rs770117560
|
0.00006
|
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)
|
rs61752123
|
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.1717A>G (p.Ser573Gly)
|
rs774417644
|
0.00006
|
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg)
|
rs201016626
|
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.2843G>A (p.Arg948Gln)
|
rs535271603
|
0.00006
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
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.239A>T (p.Glu80Val)
|
rs748579402
|
0.00006
|
NM_001127649.3(PEX26):c.29C>T (p.Ala10Val)
|
rs768425084
|
0.00006
|
NM_001127649.3(PEX26):c.441C>T (p.Asp147=)
|
rs770611373
|
0.00006
|
NM_001127649.3(PEX26):c.496C>T (p.Arg166Trp)
|
rs369695924
|
0.00006
|
NM_001127649.3(PEX26):c.904C>T (p.Arg302Cys)
|
rs539155271
|
0.00006
|
NM_001351132.2(PEX5):c.1110+16G>A
|
rs372043071
|
0.00006
|
NM_001351132.2(PEX5):c.1381T>A (p.Ser461Thr)
|
rs369698308
|
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.1873G>A (p.Ala625Thr)
|
rs143600154
|
0.00006
|
NM_001351132.2(PEX5):c.195A>C (p.Glu65Asp)
|
rs147730752
|
0.00006
|
NM_001351132.2(PEX5):c.230G>A (p.Arg77His)
|
rs780957318
|
0.00006
|
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala)
|
rs200475014
|
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.966+3G>A
|
rs373763823
|
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.605G>A (p.Arg202His)
|
rs371979619
|
0.00006
|
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln)
|
rs142257121
|
0.00006
|
NM_002617.4(PEX10):c.752T>C (p.Leu251Pro)
|
rs780507609
|
0.00006
|
NM_002617.4(PEX10):c.771C>T (p.His257=)
|
rs776503441
|
0.00006
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
NM_002617.4(PEX10):c.821C>T (p.Thr274Ile)
|
rs199683357
|
0.00006
|
NM_002617.4(PEX10):c.839G>A (p.Arg280His)
|
rs758678654
|
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.677G>A (p.Arg226Gln)
|
rs775953595
|
0.00006
|
NM_002618.4(PEX13):c.750T>C (p.Ile250=)
|
rs765039738
|
0.00006
|
NM_002618.4(PEX13):c.913+19G>A
|
rs189410109
|
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_002857.4(PEX19):c.488A>G (p.Asp163Gly)
|
rs138174625
|
0.00006
|
NM_004565.3(PEX14):c.26A>T (p.Gln9Leu)
|
rs201979629
|
0.00006
|
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala)
|
rs199525137
|
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.577G>A (p.Ala193Thr)
|
rs369625174
|
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.46G>A (p.Asp16Asn)
|
rs979319729
|
0.00005
|
NM_000286.3(PEX12):c.597G>A (p.Gln199=)
|
rs756193716
|
0.00005
|
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala)
|
rs182308788
|
0.00005
|
NM_000287.4(PEX6):c.1613G>A (p.Arg538His)
|
rs559048081
|
0.00005
|
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln)
|
rs79351868
|
0.00005
|
NM_000287.4(PEX6):c.2229T>C (p.His743=)
|
rs145849057
|
0.00005
|
NM_000287.4(PEX6):c.2459G>A (p.Gly820Glu)
|
rs558030547
|
0.00005
|
NM_000287.4(PEX6):c.2662C>T (p.Arg888Cys)
|
rs148251960
|
0.00005
|
NM_000287.4(PEX6):c.2730G>A (p.Thr910=)
|
rs774721609
|
0.00005
|
NM_000287.4(PEX6):c.2869C>T (p.Arg957Trp)
|
rs762858933
|
0.00005
|
NM_000287.4(PEX6):c.2891dup (p.Gln965fs)
|
rs753862792
|
0.00005
|
NM_000288.4(PEX7):c.237C>T (p.Asn79=)
|
rs752745963
|
0.00005
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
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_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000466.3(PEX1):c.2953C>T (p.Arg985Cys)
|
rs371988432
|
0.00005
|
NM_000466.3(PEX1):c.305C>A (p.Ser102Tyr)
|
rs143369243
|
0.00005
|
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln)
|
rs767337582
|
0.00005
|
NM_001351132.2(PEX5):c.1273A>G (p.Thr425Ala)
|
rs141202824
|
0.00005
|
NM_001351132.2(PEX5):c.1777C>T (p.Arg593Trp)
|
rs144333076
|
0.00005
|
NM_001351132.2(PEX5):c.642+19C>G
|
rs759232327
|
0.00005
|
NM_001351132.2(PEX5):c.966+5G>A
|
rs199705127
|
0.00005
|
NM_001351132.2(PEX5):c.967-15G>A
|
rs201341037
|
0.00005
|
NM_002617.4(PEX10):c.428G>A (p.Arg143His)
|
rs766596553
|
0.00005
|
NM_002617.4(PEX10):c.51G>A (p.Lys17=)
|
rs777938524
|
0.00005
|
NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp)
|
rs780485807
|
0.00005
|
NM_002617.4(PEX10):c.601-16G>A
|
rs554294948
|
0.00005
|
NM_002617.4(PEX10):c.640C>T (p.Arg214Cys)
|
rs536486149
|
0.00005
|
NM_002617.4(PEX10):c.711C>T (p.Tyr237=)
|
rs761005209
|
0.00005
|
NM_002617.4(PEX10):c.960C>G (p.Ile320Met)
|
rs371260973
|
0.00005
|
NM_002618.4(PEX13):c.580C>T (p.Arg194Trp)
|
rs774157693
|
0.00005
|
NM_002618.4(PEX13):c.661C>G (p.Leu221Val)
|
rs192034592
|
0.00005
|
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)
|
rs373118250
|
0.00005
|
NM_002618.4(PEX13):c.93-18A>C
|
rs773183074
|
0.00005
|
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro)
|
rs747627762
|
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.412G>A (p.Gly138Ser)
|
rs376462571
|
0.00005
|
NM_004565.3(PEX14):c.465G>A (p.Leu155=)
|
rs371111233
|
0.00005
|
NM_004565.3(PEX14):c.517G>T (p.Val173Phe)
|
rs200019568
|
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_004565.3(PEX14):c.990G>T (p.Glu330Asp)
|
rs145761201
|
0.00005
|
NM_004813.4(PEX16):c.1006G>C (p.Gly336Arg)
|
rs767383372
|
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_000286.3(PEX12):c.661A>G (p.Met221Val)
|
rs764839291
|
0.00004
|
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln)
|
rs769388552
|
0.00004
|
NM_000287.4(PEX6):c.1206C>T (p.Ala402=)
|
rs756358409
|
0.00004
|
NM_000287.4(PEX6):c.1354C>T (p.Arg452Cys)
|
rs762734034
|
0.00004
|
NM_000287.4(PEX6):c.187G>A (p.Gly63Ser)
|
rs958375823
|
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.2357G>A (p.Arg786Gln)
|
rs758572546
|
0.00004
|
NM_000287.4(PEX6):c.2604G>A (p.Val868=)
|
rs761123181
|
0.00004
|
NM_000287.4(PEX6):c.2642G>A (p.Arg881His)
|
rs751377690
|
0.00004
|
NM_000287.4(PEX6):c.2663G>A (p.Arg888His)
|
rs267608247
|
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.2906G>A (p.Arg969Gln)
|
rs374426032
|
0.00004
|
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu)
|
rs757254854
|
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.680A>G (p.Gln227Arg)
|
rs757479364
|
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.870G>C (p.Glu290Asp)
|
rs150358700
|
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.203A>T (p.Asp68Val)
|
rs763388501
|
0.00004
|
NM_000288.4(PEX7):c.418-18C>G
|
rs747545013
|
0.00004
|
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn)
|
rs1554331549
|
0.00004
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
NM_000288.4(PEX7):c.630T>C (p.Asn210=)
|
rs1466368201
|
0.00004
|
NM_000288.4(PEX7):c.65C>T (p.Ala22Val)
|
rs1052621653
|
0.00004
|
NM_000288.4(PEX7):c.77C>T (p.Pro26Leu)
|
rs1003031615
|
0.00004
|
NM_000288.4(PEX7):c.804-5C>T
|
rs369653173
|
0.00004
|
NM_000288.4(PEX7):c.886C>T (p.Leu296Phe)
|
rs760967879
|
0.00004
|
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys)
|
rs201106072
|
0.00004
|
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg)
|
rs138590115
|
0.00004
|
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala)
|
rs750212948
|
0.00004
|
NM_000318.3(PEX2):c.222C>T (p.Ala74=)
|
rs370886270
|
0.00004
|
NM_000318.3(PEX2):c.404T>C (p.Val135Ala)
|
rs549932565
|
0.00004
|
NM_000318.3(PEX2):c.621C>G (p.Leu207=)
|
rs1364915907
|
0.00004
|
NM_000318.3(PEX2):c.705T>A (p.Asn235Lys)
|
rs747222660
|
0.00004
|
NM_000318.3(PEX2):c.826G>C (p.Val276Leu)
|
rs746008519
|
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.2059C>T (p.Arg687Trp)
|
rs138008298
|
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_000466.3(PEX1):c.2675G>A (p.Gly892Glu)
|
rs769356901
|
0.00004
|
NM_000466.3(PEX1):c.2719-3T>C
|
rs1034823292
|
0.00004
|
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)
|
rs61750425
|
0.00004
|
NM_000466.3(PEX1):c.611G>A (p.Arg204Lys)
|
rs369126779
|
0.00004
|
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn)
|
rs754893068
|
0.00004
|
NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu)
|
rs200279475
|
0.00004
|
NM_001127649.3(PEX26):c.433C>A (p.Leu145Ile)
|
rs774434641
|
0.00004
|
NM_001127649.3(PEX26):c.50G>A (p.Gly17Glu)
|
rs757324021
|
0.00004
|
NM_001127649.3(PEX26):c.548G>A (p.Gly183Asp)
|
rs146904462
|
0.00004
|
NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln)
|
rs750749018
|
0.00004
|
NM_001127649.3(PEX26):c.668-18C>T
|
rs771685854
|
0.00004
|
NM_001127649.3(PEX26):c.764G>A (p.Ser255Asn)
|
rs770645243
|
0.00004
|
NM_001127649.3(PEX26):c.786C>G (p.Leu262=)
|
rs759864013
|
0.00004
|
NM_001127649.3(PEX26):c.851C>T (p.Ala284Val)
|
rs200004274
|
0.00004
|
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys)
|
rs199822160
|
0.00004
|
NM_001351132.2(PEX5):c.1280G>A (p.Arg427Gln)
|
rs774915360
|
0.00004
|
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu)
|
rs148266027
|
0.00004
|
NM_001351132.2(PEX5):c.1561-20G>A
|
rs753353124
|
0.00004
|
NM_001351132.2(PEX5):c.1640G>A (p.Arg547Gln)
|
rs371462892
|
0.00004
|
NM_001351132.2(PEX5):c.1695C>T (p.Ser565=)
|
rs755547376
|
0.00004
|
NM_001351132.2(PEX5):c.1768C>T (p.Arg590Trp)
|
rs139347001
|
0.00004
|
NM_001351132.2(PEX5):c.1823G>A (p.Arg608His)
|
rs201158549
|
0.00004
|
NM_001351132.2(PEX5):c.1874C>T (p.Ala625Val)
|
rs773854263
|
0.00004
|
NM_001351132.2(PEX5):c.1890C>T (p.Thr630=)
|
rs779933516
|
0.00004
|
NM_001351132.2(PEX5):c.415G>C (p.Asp139His)
|
rs375689941
|
0.00004
|
NM_001351132.2(PEX5):c.449-8C>T
|
rs771181829
|
0.00004
|
NM_001351132.2(PEX5):c.455T>G (p.Leu152Trp)
|
rs370913045
|
0.00004
|
NM_001351132.2(PEX5):c.543C>T (p.Thr181=)
|
rs138205085
|
0.00004
|
NM_001351132.2(PEX5):c.550T>C (p.Trp184Arg)
|
rs998840500
|
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.247C>T (p.Arg83Trp)
|
rs377135853
|
0.00004
|
NM_002617.4(PEX10):c.271C>T (p.Arg91Cys)
|
rs747921371
|
0.00004
|
NM_002617.4(PEX10):c.407G>A (p.Arg136His)
|
rs745469808
|
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_002617.4(PEX10):c.776+5G>A
|
rs747776170
|
0.00004
|
NM_002617.4(PEX10):c.959T>C (p.Ile320Thr)
|
rs769097644
|
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_002618.4(PEX13):c.326G>A (p.Arg109His)
|
rs372193938
|
0.00004
|
NM_002618.4(PEX13):c.353T>A (p.Phe118Tyr)
|
rs749542687
|
0.00004
|
NM_002618.4(PEX13):c.435G>A (p.Met145Ile)
|
rs1345774394
|
0.00004
|
NM_002857.4(PEX19):c.159A>G (p.Arg53=)
|
rs1218867675
|
0.00004
|
NM_002857.4(PEX19):c.193G>A (p.Ala65Thr)
|
rs376013124
|
0.00004
|
NM_002857.4(PEX19):c.215A>G (p.Gln72Arg)
|
rs543271441
|
0.00004
|
NM_002857.4(PEX19):c.595-19C>T
|
rs764622800
|
0.00004
|
NM_002857.4(PEX19):c.619C>T (p.Arg207Trp)
|
rs367813991
|
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.1126C>T (p.Arg376Trp)
|
rs765354583
|
0.00004
|
NM_004565.3(PEX14):c.112A>G (p.Asn38Asp)
|
rs940853094
|
0.00004
|
NM_004565.3(PEX14):c.297C>T (p.Tyr99=)
|
rs371473184
|
0.00004
|
NM_004565.3(PEX14):c.320G>A (p.Arg107Gln)
|
rs774125017
|
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.860C>T (p.Thr287Met)
|
rs376758920
|
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.209G>A (p.Arg70Gln)
|
rs776600798
|
0.00004
|
NM_004813.4(PEX16):c.252A>G (p.Thr84=)
|
rs367893667
|
0.00004
|
NM_004813.4(PEX16):c.340G>A (p.Ala114Thr)
|
rs374045163
|
0.00004
|
NM_004813.4(PEX16):c.421A>G (p.Ile141Val)
|
rs761426585
|
0.00004
|
NM_004813.4(PEX16):c.475C>T (p.Pro159Ser)
|
rs774416603
|
0.00004
|
NM_004813.4(PEX16):c.588G>C (p.Glu196Asp)
|
rs759501669
|
0.00004
|
NM_004813.4(PEX16):c.616C>G (p.Leu206Val)
|
rs375515674
|
0.00004
|
NM_004813.4(PEX16):c.768C>T (p.Ser256=)
|
rs1173649955
|
0.00004
|
NM_144709.4(PUS10):c.-16+137C>G
|
rs1303497941
|
0.00004
|
NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
NM_000286.3(PEX12):c.191C>T (p.Thr64Ile)
|
rs766393993
|
0.00003
|
NM_000286.3(PEX12):c.20A>G (p.His7Arg)
|
rs143621995
|
0.00003
|
NM_000286.3(PEX12):c.236G>C (p.Ser79Thr)
|
rs771507228
|
0.00003
|
NM_000286.3(PEX12):c.349A>G (p.Ile117Val)
|
rs767207001
|
0.00003
|
NM_000286.3(PEX12):c.447T>C (p.Ser149=)
|
rs375119247
|
0.00003
|
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)
|
rs61752103
|
0.00003
|
NM_000286.3(PEX12):c.543C>T (p.Tyr181=)
|
rs192653658
|
0.00003
|
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)
|
rs61752105
|
0.00003
|
NM_000286.3(PEX12):c.681-15C>G
|
rs371906447
|
0.00003
|
NM_000286.3(PEX12):c.907G>A (p.Val303Met)
|
rs777654572
|
0.00003
|
NM_000287.4(PEX6):c.1145T>G (p.Phe382Cys)
|
rs762401493
|
0.00003
|
NM_000287.4(PEX6):c.1159A>G (p.Lys387Glu)
|
rs1286993221
|
0.00003
|
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr)
|
rs564483086
|
0.00003
|
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn)
|
rs535326039
|
0.00003
|
NM_000287.4(PEX6):c.1234-10C>T
|
rs370661410
|
0.00003
|
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp)
|
rs757334412
|
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.1495C>T (p.Leu499Phe)
|
rs769207892
|
0.00003
|
NM_000287.4(PEX6):c.152C>A (p.Ala51Glu)
|
rs931068715
|
0.00003
|
NM_000287.4(PEX6):c.1549C>T (p.Arg517Trp)
|
rs754790139
|
0.00003
|
NM_000287.4(PEX6):c.1857C>T (p.Asn619=)
|
rs140285166
|
0.00003
|
NM_000287.4(PEX6):c.185C>T (p.Ala62Val)
|
rs991131935
|
0.00003
|
NM_000287.4(PEX6):c.1876C>T (p.Arg626Trp)
|
rs374278186
|
0.00003
|
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)
|
rs781475201
|
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.2735C>T (p.Ala912Val)
|
rs62641232
|
0.00003
|
NM_000287.4(PEX6):c.2788G>T (p.Val930Phe)
|
rs756296074
|
0.00003
|
NM_000287.4(PEX6):c.2806+14C>T
|
rs544074442
|
0.00003
|
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr)
|
rs774145857
|
0.00003
|
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp)
|
rs772383329
|
0.00003
|
NM_000287.4(PEX6):c.412G>A (p.Val138Met)
|
rs763313055
|
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.781C>T (p.Pro261Ser)
|
rs758866060
|
0.00003
|
NM_000287.4(PEX6):c.782C>T (p.Pro261Leu)
|
rs753014991
|
0.00003
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
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.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_000288.4(PEX7):c.730G>A (p.Ala244Thr)
|
rs375091907
|
0.00003
|
NM_000288.4(PEX7):c.803+5A>G
|
rs759078908
|
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.86C>T (p.Pro29Leu)
|
rs757852291
|
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_000318.3(PEX2):c.151C>T (p.Arg51Cys)
|
rs147209403
|
0.00003
|
NM_000318.3(PEX2):c.374G>A (p.Arg125Gln)
|
rs199845625
|
0.00003
|
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile)
|
rs1264938864
|
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.1283C>T (p.Ala428Val)
|
rs376883207
|
0.00003
|
NM_000466.3(PEX1):c.1360-19C>G
|
rs760820104
|
0.00003
|
NM_000466.3(PEX1):c.148G>A (p.Val50Ile)
|
rs768702189
|
0.00003
|
NM_000466.3(PEX1):c.1587+7G>A
|
rs371765274
|
0.00003
|
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala)
|
rs775544654
|
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.2240A>C (p.Glu747Ala)
|
rs200207576
|
0.00003
|
NM_000466.3(PEX1):c.2268A>G (p.Lys756=)
|
rs1434174453
|
0.00003
|
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu)
|
rs771224088
|
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.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00003
|
NM_000466.3(PEX1):c.3068C>G (p.Ser1023Cys)
|
rs547203417
|
0.00003
|
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=)
|
rs776231556
|
0.00003
|
NM_000466.3(PEX1):c.3344A>G (p.Glu1115Gly)
|
rs762474729
|
0.00003
|
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile)
|
rs749324355
|
0.00003
|
NM_000466.3(PEX1):c.363G>T (p.Leu121=)
|
rs200866361
|
0.00003
|
NM_000466.3(PEX1):c.544C>T (p.Arg182Cys)
|
rs771535312
|
0.00003
|
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)
|
rs753823218
|
0.00003
|
NM_000466.3(PEX1):c.721del (p.Ser241fs)
|
rs894289737
|
0.00003
|
NM_000466.3(PEX1):c.889A>G (p.Ile297Val)
|
rs181796768
|
0.00003
|
NM_001127649.3(PEX26):c.710G>A (p.Arg237His)
|
rs370821533
|
0.00003
|
NM_001127649.3(PEX26):c.725C>T (p.Ser242Phe)
|
rs779828574
|
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.1279C>T (p.Arg427Ter)
|
rs61752137
|
0.00003
|
NM_001351132.2(PEX5):c.1333G>C (p.Glu445Gln)
|
rs1405389869
|
0.00003
|
NM_001351132.2(PEX5):c.1493T>G (p.Phe498Cys)
|
rs772579298
|
0.00003
|
NM_001351132.2(PEX5):c.156G>A (p.Lys52=)
|
rs1374555547
|
0.00003
|
NM_001351132.2(PEX5):c.1637G>A (p.Arg546His)
|
rs375588538
|
0.00003
|
NM_001351132.2(PEX5):c.164G>T (p.Gly55Val)
|
rs752097814
|
0.00003
|
NM_001351132.2(PEX5):c.1858T>C (p.Tyr620His)
|
rs141242661
|
0.00003
|
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp)
|
rs148040746
|
0.00003
|
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile)
|
rs145886418
|
0.00003
|
NM_001351132.2(PEX5):c.317-6T>C
|
rs755945291
|
0.00003
|
NM_001351132.2(PEX5):c.473G>A (p.Arg158His)
|
rs140456601
|
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.552-3C>T
|
rs368653314
|
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_001351132.2(PEX5):c.997C>T (p.Arg333Cys)
|
rs756565648
|
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.435G>A (p.Met145Ile)
|
rs368273118
|
0.00003
|
NM_002617.4(PEX10):c.446C>T (p.Thr149Met)
|
rs764948458
|
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_002617.4(PEX10):c.641G>A (p.Arg214His)
|
rs368143757
|
0.00003
|
NM_002617.4(PEX10):c.652_657dup (p.Arg218_Leu219dup)
|
rs1432526114
|
0.00003
|
NM_002617.4(PEX10):c.724C>T (p.Arg242Trp)
|
rs745818681
|
0.00003
|
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)
|
rs61752092
|
0.00003
|
NM_002617.4(PEX10):c.758G>A (p.Arg253His)
|
rs750769868
|
0.00003
|
NM_002617.4(PEX10):c.773G>A (p.Arg258His)
|
rs773147980
|
0.00003
|
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)
|
rs724160001
|
0.00003
|
NM_002618.4(PEX13):c.1030G>A (p.Glu344Lys)
|
rs550755703
|
0.00003
|
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe)
|
rs758388660
|
0.00003
|
NM_002618.4(PEX13):c.1144G>C (p.Val382Leu)
|
rs886044219
|
0.00003
|
NM_002618.4(PEX13):c.126A>G (p.Arg42=)
|
rs781477994
|
0.00003
|
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg)
|
rs752073595
|
0.00003
|
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys)
|
rs200928725
|
0.00003
|
NM_002618.4(PEX13):c.54G>A (p.Pro18=)
|
rs1002699754
|
0.00003
|
NM_002618.4(PEX13):c.599G>A (p.Gly200Asp)
|
rs753698277
|
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.490G>A (p.Glu164Lys)
|
rs370126224
|
0.00003
|
NM_002857.4(PEX19):c.595-17A>G
|
rs753045868
|
0.00003
|
NM_002857.4(PEX19):c.670G>A (p.Val224Ile)
|
rs372197333
|
0.00003
|
NM_002857.4(PEX19):c.763dup (p.Met255fs)
|
rs267608186
|
0.00003
|
NM_002857.4(PEX19):c.772-8T>C
|
rs367964884
|
0.00003
|
NM_002857.4(PEX19):c.856T>G (p.Ser286Ala)
|
rs1272607089
|
0.00003
|
NM_002857.4(PEX19):c.863C>T (p.Pro288Leu)
|
rs746472158
|
0.00003
|
NM_004565.3(PEX14):c.1112G>A (p.Ser371Asn)
|
rs1029768863
|
0.00003
|
NM_004565.3(PEX14):c.118C>T (p.Arg40Trp)
|
rs770183471
|
0.00003
|
NM_004565.3(PEX14):c.304G>A (p.Ala102Thr)
|
rs753731034
|
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.925G>T (p.Val309Leu)
|
rs764272265
|
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.208C>T (p.Arg70Trp)
|
rs886044340
|
0.00003
|
NM_004813.4(PEX16):c.273C>T (p.Cys91=)
|
rs146476007
|
0.00003
|
NM_004813.4(PEX16):c.578A>G (p.Gln193Arg)
|
rs761839307
|
0.00003
|
NM_004813.4(PEX16):c.593G>A (p.Arg198Gln)
|
rs1319561377
|
0.00003
|
NM_004813.4(PEX16):c.643C>G (p.Leu215Val)
|
rs773150003
|
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.844C>T (p.Leu282Phe)
|
rs199767958
|
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.101G>A (p.Arg34Lys)
|
rs770777877
|
0.00002
|
NM_000286.3(PEX12):c.166T>C (p.Trp56Arg)
|
rs758005394
|
0.00002
|
NM_000286.3(PEX12):c.245T>G (p.Phe82Cys)
|
rs140611267
|
0.00002
|
NM_000286.3(PEX12):c.294C>A (p.His98Gln)
|
rs767354075
|
0.00002
|
NM_000286.3(PEX12):c.335A>G (p.Gln112Arg)
|
rs376279395
|
0.00002
|
NM_000286.3(PEX12):c.352A>G (p.Met118Val)
|
rs773708442
|
0.00002
|
NM_000286.3(PEX12):c.570A>G (p.Ser190=)
|
rs758132842
|
0.00002
|
NM_000286.3(PEX12):c.655A>G (p.Ser219Gly)
|
rs773891359
|
0.00002
|
NM_000286.3(PEX12):c.724G>A (p.Gly242Ser)
|
rs765982515
|
0.00002
|
NM_000286.3(PEX12):c.758T>C (p.Val253Ala)
|
rs773962549
|
0.00002
|
NM_000286.3(PEX12):c.903G>C (p.Lys301Asn)
|
rs145574816
|
0.00002
|
NM_000286.3(PEX12):c.905C>T (p.Thr302Ile)
|
rs373860467
|
0.00002
|
NM_000286.3(PEX12):c.915A>T (p.Pro305=)
|
rs748595918
|
0.00002
|
NM_000286.3(PEX12):c.932G>A (p.Arg311Gln)
|
rs780595864
|
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.122G>A (p.Arg41Lys)
|
rs372033738
|
0.00002
|
NM_000287.4(PEX6):c.1361A>G (p.Gln454Arg)
|
rs779171611
|
0.00002
|
NM_000287.4(PEX6):c.1370G>T (p.Gly457Val)
|
rs752494573
|
0.00002
|
NM_000287.4(PEX6):c.1406G>A (p.Arg469Gln)
|
rs773105735
|
0.00002
|
NM_000287.4(PEX6):c.1437A>G (p.Val479=)
|
rs769120023
|
0.00002
|
NM_000287.4(PEX6):c.1555C>T (p.Arg519Cys)
|
rs924649541
|
0.00002
|
NM_000287.4(PEX6):c.1556G>A (p.Arg519His)
|
rs368356719
|
0.00002
|
NM_000287.4(PEX6):c.1587A>C (p.Thr529=)
|
rs372775539
|
0.00002
|
NM_000287.4(PEX6):c.1612C>T (p.Arg538Cys)
|
rs374253469
|
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.1810A>G (p.Ile604Val)
|
rs370855809
|
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.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000287.4(PEX6):c.1963T>C (p.Leu655=)
|
rs751189574
|
0.00002
|
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)
|
rs267608230
|
0.00002
|
NM_000287.4(PEX6):c.2079C>T (p.Ala693=)
|
rs774509670
|
0.00002
|
NM_000287.4(PEX6):c.2080G>A (p.Val694Ile)
|
rs562698757
|
0.00002
|
NM_000287.4(PEX6):c.2089C>T (p.Pro697Ser)
|
rs543110086
|
0.00002
|
NM_000287.4(PEX6):c.2139G>A (p.Val713=)
|
rs1355851692
|
0.00002
|
NM_000287.4(PEX6):c.2210G>A (p.Arg737His)
|
rs767654358
|
0.00002
|
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val)
|
rs374975985
|
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.2440C>T (p.Arg814Ter)
|
rs267608241
|
0.00002
|
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)
|
rs61753231
|
0.00002
|
NM_000287.4(PEX6):c.2612G>A (p.Gly871Glu)
|
rs1460417469
|
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.2672A>G (p.Lys891Arg)
|
rs886044685
|
0.00002
|
NM_000287.4(PEX6):c.2701G>A (p.Val901Met)
|
rs766523042
|
0.00002
|
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr)
|
rs374549180
|
0.00002
|
NM_000287.4(PEX6):c.2884G>A (p.Val962Ile)
|
rs771029096
|
0.00002
|
NM_000287.4(PEX6):c.2914C>T (p.Arg972Cys)
|
rs761395988
|
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.635T>A (p.Leu212His)
|
rs779822002
|
0.00002
|
NM_000287.4(PEX6):c.724G>A (p.Val242Met)
|
rs368915893
|
0.00002
|
NM_000287.4(PEX6):c.732C>T (p.Val244=)
|
rs768532180
|
0.00002
|
NM_000287.4(PEX6):c.743G>T (p.Arg248Leu)
|
rs368481812
|
0.00002
|
NM_000287.4(PEX6):c.832G>A (p.Ala278Thr)
|
rs370456987
|
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.244G>A (p.Val82Ile)
|
rs770777194
|
0.00002
|
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg)
|
rs762113236
|
0.00002
|
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser)
|
rs753193218
|
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.769G>A (p.Val257Met)
|
rs771916687
|
0.00002
|
NM_000288.4(PEX7):c.786G>A (p.Ser262=)
|
rs751419048
|
0.00002
|
NM_000288.4(PEX7):c.950C>T (p.Ala317Val)
|
rs541306617
|
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.181T>C (p.Trp61Arg)
|
rs772704218
|
0.00002
|
NM_000318.3(PEX2):c.257A>C (p.Lys86Thr)
|
rs754127143
|
0.00002
|
NM_000318.3(PEX2):c.659T>G (p.Leu220Arg)
|
rs773085309
|
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.1239+1G>T
|
rs756876301
|
0.00002
|
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val)
|
rs759491353
|
0.00002
|
NM_000466.3(PEX1):c.130-1G>T
|
rs1028247729
|
0.00002
|
NM_000466.3(PEX1):c.134A>G (p.Gln45Arg)
|
rs758309091
|
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.1952_1960dup (p.Trp653_Met654insThrValTrp)
|
rs398123408
|
0.00002
|
NM_000466.3(PEX1):c.2072-17A>G
|
rs557824423
|
0.00002
|
NM_000466.3(PEX1):c.2269T>C (p.Leu757=)
|
rs776758878
|
0.00002
|
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)
|
rs61750417
|
0.00002
|
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys)
|
rs983157165
|
0.00002
|
NM_000466.3(PEX1):c.2708T>A (p.Ile903Lys)
|
rs1305700033
|
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.2730del (p.Leu910fs)
|
rs61750423
|
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.2T>C (p.Met1Thr)
|
rs766020928
|
0.00002
|
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=)
|
rs148972713
|
0.00002
|
NM_000466.3(PEX1):c.3428C>G (p.Ser1143Cys)
|
rs1198978658
|
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.782_783del (p.Gln261fs)
|
rs749067142
|
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.120G>C (p.Glu40Asp)
|
rs1010208134
|
0.00002
|
NM_001127649.3(PEX26):c.142C>T (p.His48Tyr)
|
rs747831264
|
0.00002
|
NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu)
|
rs777633990
|
0.00002
|
NM_001127649.3(PEX26):c.208G>T (p.Val70Leu)
|
rs766581207
|
0.00002
|
NM_001127649.3(PEX26):c.230+3A>G
|
rs757200331
|
0.00002
|
NM_001127649.3(PEX26):c.231-19T>C
|
rs371362038
|
0.00002
|
NM_001127649.3(PEX26):c.23C>T (p.Ser8Phe)
|
rs749146718
|
0.00002
|
NM_001127649.3(PEX26):c.381A>G (p.Leu127=)
|
rs781745366
|
0.00002
|
NM_001127649.3(PEX26):c.427G>A (p.Ala143Thr)
|
rs768857476
|
0.00002
|
NM_001127649.3(PEX26):c.461C>T (p.Pro154Leu)
|
rs998546145
|
0.00002
|
NM_001127649.3(PEX26):c.524C>T (p.Ser175Leu)
|
rs748291426
|
0.00002
|
NM_001127649.3(PEX26):c.52C>T (p.Pro18Ser)
|
rs924635830
|
0.00002
|
NM_001127649.3(PEX26):c.53C>T (p.Pro18Leu)
|
rs1295117804
|
0.00002
|
NM_001127649.3(PEX26):c.547G>A (p.Gly183Ser)
|
rs535045097
|
0.00002
|
NM_001127649.3(PEX26):c.558C>T (p.Ala186=)
|
rs372621690
|
0.00002
|
NM_001127649.3(PEX26):c.653A>G (p.Lys218Arg)
|
rs773676634
|
0.00002
|
NM_001127649.3(PEX26):c.709C>T (p.Arg237Cys)
|
rs575612663
|
0.00002
|
NM_001127649.3(PEX26):c.862C>T (p.Arg288Cys)
|
rs764957881
|
0.00002
|
NM_001127649.3(PEX26):c.863G>A (p.Arg288His)
|
rs370622812
|
0.00002
|
NM_001127649.3(PEX26):c.871C>T (p.Arg291Trp)
|
rs576481410
|
0.00002
|
NM_001127649.3(PEX26):c.877G>A (p.Ala293Thr)
|
rs1045236480
|
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.115C>G (p.Pro39Ala)
|
rs751937990
|
0.00002
|
NM_001351132.2(PEX5):c.1211C>T (p.Thr404Ile)
|
rs751774861
|
0.00002
|
NM_001351132.2(PEX5):c.1259G>A (p.Arg420Gln)
|
rs765532002
|
0.00002
|
NM_001351132.2(PEX5):c.1365C>A (p.Ser455Arg)
|
rs1383386030
|
0.00002
|
NM_001351132.2(PEX5):c.1369C>T (p.Arg457Cys)
|
rs199544306
|
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.155A>G (p.Lys52Arg)
|
rs764700965
|
0.00002
|
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser)
|
rs749417845
|
0.00002
|
NM_001351132.2(PEX5):c.1677C>T (p.Arg559=)
|
rs756477662
|
0.00002
|
NM_001351132.2(PEX5):c.1769G>A (p.Arg590Gln)
|
rs779049461
|
0.00002
|
NM_001351132.2(PEX5):c.1837A>G (p.Met613Val)
|
rs765623850
|
0.00002
|
NM_001351132.2(PEX5):c.1900A>G (p.Met634Val)
|
rs766669738
|
0.00002
|
NM_001351132.2(PEX5):c.273G>T (p.Met91Ile)
|
rs761240813
|
0.00002
|
NM_001351132.2(PEX5):c.299G>A (p.Arg100His)
|
rs757108771
|
0.00002
|
NM_001351132.2(PEX5):c.318C>T (p.Ala106=)
|
rs149185061
|
0.00002
|
NM_001351132.2(PEX5):c.406A>G (p.Asn136Asp)
|
rs766587819
|
0.00002
|
NM_001351132.2(PEX5):c.523G>A (p.Glu175Lys)
|
rs1259114034
|
0.00002
|
NM_001351132.2(PEX5):c.527C>T (p.Pro176Leu)
|
rs145613325
|
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.664A>G (p.Ile222Val)
|
rs778800705
|
0.00002
|
NM_001351132.2(PEX5):c.689A>C (p.Glu230Ala)
|
rs140292053
|
0.00002
|
NM_001351132.2(PEX5):c.69C>T (p.His23=)
|
rs976676879
|
0.00002
|
NM_001351132.2(PEX5):c.704C>T (p.Ser235Leu)
|
rs752922748
|
0.00002
|
NM_001351132.2(PEX5):c.718G>C (p.Ala240Pro)
|
rs778767381
|
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.83A>G (p.Lys28Arg)
|
rs759345862
|
0.00002
|
NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp)
|
rs767306549
|
0.00002
|
NM_001351132.2(PEX5):c.909T>C (p.Ala303=)
|
rs376649488
|
0.00002
|
NM_001351132.2(PEX5):c.920C>T (p.Pro307Leu)
|
rs1159586988
|
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.113-1G>A
|
rs867305222
|
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.1A>G (p.Met1Val)
|
rs886041314
|
0.00002
|
NM_002617.4(PEX10):c.219C>T (p.Tyr73=)
|
rs531987102
|
0.00002
|
NM_002617.4(PEX10):c.296A>G (p.His99Arg)
|
rs764465144
|
0.00002
|
NM_002617.4(PEX10):c.364G>A (p.Asp122Asn)
|
rs375855913
|
0.00002
|
NM_002617.4(PEX10):c.447G>A (p.Thr149=)
|
rs759220912
|
0.00002
|
NM_002617.4(PEX10):c.470G>A (p.Arg157Lys)
|
rs772618705
|
0.00002
|
NM_002617.4(PEX10):c.484C>T (p.Arg162Trp)
|
rs570706924
|
0.00002
|
NM_002617.4(PEX10):c.513C>T (p.Leu171=)
|
rs772790675
|
0.00002
|
NM_002617.4(PEX10):c.556G>A (p.Gly186Ser)
|
rs147848221
|
0.00002
|
NM_002617.4(PEX10):c.596C>T (p.Thr199Met)
|
rs373559391
|
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.600+1G>A
|
rs267608183
|
0.00002
|
NM_002617.4(PEX10):c.766T>A (p.Ser256Thr)
|
rs532149116
|
0.00002
|
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp)
|
rs747171383
|
0.00002
|
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys)
|
rs1208669638
|
0.00002
|
NM_002617.4(PEX10):c.857C>T (p.Thr286Met)
|
rs774205482
|
0.00002
|
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser)
|
rs556603981
|
0.00002
|
NM_002617.4(PEX10):c.868C>G (p.His290Asp)
|
rs61752094
|
0.00002
|
NM_002617.4(PEX10):c.912+18T>C
|
rs778438020
|
0.00002
|
NM_002618.4(PEX13):c.1093A>G (p.Thr365Ala)
|
rs753444647
|
0.00002
|
NM_002618.4(PEX13):c.11A>C (p.Gln4Pro)
|
rs1171979724
|
0.00002
|
NM_002618.4(PEX13):c.205A>T (p.Asn69Tyr)
|
rs1338444377
|
0.00002
|
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser)
|
rs367843599
|
0.00002
|
NM_002618.4(PEX13):c.285T>G (p.Pro95=)
|
rs749465384
|
0.00002
|
NM_002618.4(PEX13):c.320G>A (p.Arg107His)
|
rs766710343
|
0.00002
|
NM_002618.4(PEX13):c.378C>T (p.Ser126=)
|
rs939500739
|
0.00002
|
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter)
|
rs553968959
|
0.00002
|
NM_002618.4(PEX13):c.589C>T (p.Arg197Trp)
|
rs903847229
|
0.00002
|
NM_002618.4(PEX13):c.595T>A (p.Leu199Ile)
|
rs565873587
|
0.00002
|
NM_002618.4(PEX13):c.62G>A (p.Gly21Glu)
|
rs1249025009
|
0.00002
|
NM_002618.4(PEX13):c.759A>G (p.Leu253=)
|
rs752467884
|
0.00002
|
NM_002618.4(PEX13):c.767C>T (p.Thr256Ile)
|
rs985608709
|
0.00002
|
NM_002618.4(PEX13):c.881G>A (p.Arg294Gln)
|
rs377426614
|
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_002618.4(PEX13):c.931C>T (p.Arg311Cys)
|
rs376720470
|
0.00002
|
NM_002618.4(PEX13):c.932G>A (p.Arg311His)
|
rs147344836
|
0.00002
|
NM_002857.4(PEX19):c.143C>T (p.Ser48Leu)
|
rs375153087
|
0.00002
|
NM_002857.4(PEX19):c.17A>G (p.Glu6Gly)
|
rs181602818
|
0.00002
|
NM_002857.4(PEX19):c.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.272T>C (p.Met91Thr)
|
rs747047470
|
0.00002
|
NM_002857.4(PEX19):c.435C>A (p.Asn145Lys)
|
rs771657561
|
0.00002
|
NM_002857.4(PEX19):c.447G>A (p.Ser149=)
|
rs749234062
|
0.00002
|
NM_002857.4(PEX19):c.553A>G (p.Lys185Glu)
|
rs765741144
|
0.00002
|
NM_002857.4(PEX19):c.669C>T (p.Ser223=)
|
rs375907790
|
0.00002
|
NM_002857.4(PEX19):c.696T>A (p.Phe232Leu)
|
rs753324166
|
0.00002
|
NM_002857.4(PEX19):c.700G>T (p.Ala234Ser)
|
rs760726802
|
0.00002
|
NM_002857.4(PEX19):c.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.14A>G (p.Glu5Gly)
|
rs932921080
|
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.568G>A (p.Glu190Lys)
|
rs144362955
|
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.824C>T (p.Ser275Leu)
|
rs727504081
|
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.931A>T (p.Met311Leu)
|
rs761789278
|
0.00002
|
NM_004565.3(PEX14):c.9C>T (p.Ser3=)
|
rs1476050374
|
0.00002
|
NM_004813.4(PEX16):c.13C>T (p.Arg5Trp)
|
rs768102300
|
0.00002
|
NM_004813.4(PEX16):c.147G>A (p.Leu49=)
|
rs944696367
|
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.274G>A (p.Val92Met)
|
rs764174581
|
0.00002
|
NM_004813.4(PEX16):c.27C>T (p.Leu9=)
|
rs913040375
|
0.00002
|
NM_004813.4(PEX16):c.419C>G (p.Pro140Arg)
|
rs764641368
|
0.00002
|
NM_004813.4(PEX16):c.472A>G (p.Ser158Gly)
|
rs1394054374
|
0.00002
|
NM_004813.4(PEX16):c.546G>A (p.Pro182=)
|
rs1026595479
|
0.00002
|
NM_004813.4(PEX16):c.592C>T (p.Arg198Trp)
|
rs774218187
|
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.694+11C>T
|
rs763840804
|
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.803G>A (p.Arg268Gln)
|
rs376763841
|
0.00002
|
NM_004813.4(PEX16):c.811C>T (p.Arg271Trp)
|
rs777810731
|
0.00002
|
NM_004813.4(PEX16):c.885C>T (p.Ser295=)
|
rs200415017
|
0.00002
|
NM_004813.4(PEX16):c.937G>A (p.Val313Ile)
|
rs747521980
|
0.00002
|
NM_004813.4(PEX16):c.957G>A (p.Pro319=)
|
rs751904831
|
0.00002
|
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)
|
rs760739894
|
0.00001
|
NM_000286.3(PEX12):c.1014T>G (p.Ala338=)
|
rs1047155507
|
0.00001
|
NM_000286.3(PEX12):c.1021A>T (p.Ile341Phe)
|
rs772028045
|
0.00001
|
NM_000286.3(PEX12):c.1042G>A (p.Val348Ile)
|
rs2072781156
|
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+6G>A
|
rs1342667188
|
0.00001
|
NM_000286.3(PEX12):c.126+8A>G
|
rs1268722683
|
0.00001
|
NM_000286.3(PEX12):c.174G>T (p.Trp58Cys)
|
rs1167729519
|
0.00001
|
NM_000286.3(PEX12):c.182_184dup (p.Glu61_Ile62insLys)
|
rs1412916235
|
0.00001
|
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)
|
rs767447750
|
0.00001
|
NM_000286.3(PEX12):c.216A>G (p.Gln72=)
|
rs763213930
|
0.00001
|
NM_000286.3(PEX12):c.237T>A (p.Ser79Arg)
|
rs773576922
|
0.00001
|
NM_000286.3(PEX12):c.261C>T (p.Tyr87=)
|
rs145784404
|
0.00001
|
NM_000286.3(PEX12):c.263G>C (p.Gly88Ala)
|
rs1195136213
|
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.295A>G (p.Lys99Glu)
|
rs1003905752
|
0.00001
|
NM_000286.3(PEX12):c.301C>G (p.Gln101Glu)
|
rs1316034375
|
0.00001
|
NM_000286.3(PEX12):c.307T>C (p.Leu103=)
|
rs765607255
|
0.00001
|
NM_000286.3(PEX12):c.319G>C (p.Gly107Arg)
|
rs371014792
|
0.00001
|
NM_000286.3(PEX12):c.31del (p.Ala11fs)
|
rs1290469936
|
0.00001
|
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)
|
rs1056238409
|
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.421G>A (p.Asp141Asn)
|
rs1260902616
|
0.00001
|
NM_000286.3(PEX12):c.431C>T (p.Ser144Phe)
|
rs988442642
|
0.00001
|
NM_000286.3(PEX12):c.435T>G (p.Ile145Met)
|
rs956055423
|
0.00001
|
NM_000286.3(PEX12):c.442C>T (p.Pro148Ser)
|
rs1324878121
|
0.00001
|
NM_000286.3(PEX12):c.450C>A (p.Ser150=)
|
rs986848130
|
0.00001
|
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)
|
rs888633730
|
0.00001
|
NM_000286.3(PEX12):c.539G>A (p.Arg180Gln)
|
rs745420734
|
0.00001
|
NM_000286.3(PEX12):c.53C>T (p.Pro18Leu)
|
rs750863211
|
0.00001
|
NM_000286.3(PEX12):c.551G>A (p.Gly184Glu)
|
rs1241662407
|
0.00001
|
NM_000286.3(PEX12):c.55T>C (p.Ser19Pro)
|
rs756812775
|
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.601G>T (p.Gly201Cys)
|
rs767608984
|
0.00001
|
NM_000286.3(PEX12):c.616C>A (p.Gln206Lys)
|
rs786205502
|
0.00001
|
NM_000286.3(PEX12):c.628G>T (p.Ala210Ser)
|
rs763285439
|
0.00001
|
NM_000286.3(PEX12):c.666G>A (p.Gln222=)
|
rs759295117
|
0.00001
|
NM_000286.3(PEX12):c.671C>G (p.Pro224Arg)
|
rs984673169
|
0.00001
|
NM_000286.3(PEX12):c.680+1G>A
|
rs904972651
|
0.00001
|
NM_000286.3(PEX12):c.708G>A (p.Leu236=)
|
rs1404693909
|
0.00001
|
NM_000286.3(PEX12):c.734T>C (p.Leu245Ser)
|
rs1364396743
|
0.00001
|
NM_000286.3(PEX12):c.73G>C (p.Ala25Pro)
|
rs762591605
|
0.00001
|
NM_000286.3(PEX12):c.744dup (p.Thr249fs)
|
rs61752108
|
0.00001
|
NM_000286.3(PEX12):c.75A>G (p.Ala25=)
|
rs765205355
|
0.00001
|
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly)
|
rs759584047
|
0.00001
|
NM_000286.3(PEX12):c.826T>C (p.Leu276=)
|
rs1465512430
|
0.00001
|
NM_000286.3(PEX12):c.830C>T (p.Thr277Ile)
|
rs1398163895
|
0.00001
|
NM_000286.3(PEX12):c.847C>T (p.Pro283Ser)
|
rs753527027
|
0.00001
|
NM_000286.3(PEX12):c.856G>A (p.Val286Ile)
|
rs766182813
|
0.00001
|
NM_000286.3(PEX12):c.899T>C (p.Met300Thr)
|
rs776806092
|
0.00001
|
NM_000286.3(PEX12):c.8A>G (p.Glu3Gly)
|
rs769571282
|
0.00001
|
NM_000286.3(PEX12):c.913C>G (p.Pro305Ala)
|
rs1444133628
|
0.00001
|
NM_000286.3(PEX12):c.940G>C (p.Asp314His)
|
rs1366482320
|
0.00001
|
NM_000286.3(PEX12):c.946G>C (p.Val316Leu)
|
rs750097322
|
0.00001
|
NM_000286.3(PEX12):c.997G>T (p.Val333Leu)
|
rs762912502
|
0.00001
|
NM_000287.4(PEX6):c.1027C>T (p.Arg343Trp)
|
rs977542433
|
0.00001
|
NM_000287.4(PEX6):c.1032C>T (p.His344=)
|
rs1770222575
|
0.00001
|
NM_000287.4(PEX6):c.1033T>A (p.Phe345Ile)
|
rs1770222482
|
0.00001
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr)
|
rs571650965
|
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.1130+2T>C
|
rs1416001981
|
0.00001
|
NM_000287.4(PEX6):c.1131-7C>T
|
rs752538584
|
0.00001
|
NM_000287.4(PEX6):c.1145T>C (p.Phe382Ser)
|
rs762401493
|
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.1233+1G>A
|
rs763459576
|
0.00001
|
NM_000287.4(PEX6):c.1233+3G>A
|
rs955591362
|
0.00001
|
NM_000287.4(PEX6):c.1234-1G>T
|
rs1554127533
|
0.00001
|
NM_000287.4(PEX6):c.1234-20C>T
|
rs751884285
|
0.00001
|
NM_000287.4(PEX6):c.1236G>A (p.Val412=)
|
rs1196012985
|
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.1267C>G (p.Pro423Ala)
|
rs774044599
|
0.00001
|
NM_000287.4(PEX6):c.1281C>T (p.Ser427=)
|
rs1318560741
|
0.00001
|
NM_000287.4(PEX6):c.1287del (p.Trp430fs)
|
rs1258472160
|
0.00001
|
NM_000287.4(PEX6):c.1290G>T (p.Trp430Cys)
|
rs1457151665
|
0.00001
|
NM_000287.4(PEX6):c.1294A>C (p.Ser432Arg)
|
rs775373588
|
0.00001
|
NM_000287.4(PEX6):c.1313T>C (p.Leu438Pro)
|
rs778025463
|
0.00001
|
NM_000287.4(PEX6):c.1313dup (p.Glu439fs)
|
rs770055192
|
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.140C>T (p.Pro47Leu)
|
rs1299683224
|
0.00001
|
NM_000287.4(PEX6):c.1410C>T (p.Gly470=)
|
rs1206140976
|
0.00001
|
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser)
|
rs774874010
|
0.00001
|
NM_000287.4(PEX6):c.141G>C (p.Pro47=)
|
rs1464923917
|
0.00001
|
NM_000287.4(PEX6):c.1453A>G (p.Ser485Gly)
|
rs1211744219
|
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.1484C>G (p.Pro495Arg)
|
rs762174122
|
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.1511G>A (p.Ser504Asn)
|
rs770340288
|
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.1558C>T (p.Arg520Cys)
|
rs530370123
|
0.00001
|
NM_000287.4(PEX6):c.1566G>A (p.Arg522=)
|
rs950336722
|
0.00001
|
NM_000287.4(PEX6):c.157C>G (p.Leu53Val)
|
rs1254816567
|
0.00001
|
NM_000287.4(PEX6):c.1591G>A (p.Val531Met)
|
rs1769924968
|
0.00001
|
NM_000287.4(PEX6):c.1605C>T (p.Gly535=)
|
rs1384204316
|
0.00001
|
NM_000287.4(PEX6):c.1639G>T (p.Val547Leu)
|
rs757202336
|
0.00001
|
NM_000287.4(PEX6):c.1654C>T (p.Arg552Cys)
|
rs765678624
|
0.00001
|
NM_000287.4(PEX6):c.1688+3A>G
|
rs111397663
|
0.00001
|
NM_000287.4(PEX6):c.1688G>A (p.Ser563Asn)
|
rs768025730
|
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.1747G>A (p.Val583Met)
|
rs750996699
|
0.00001
|
NM_000287.4(PEX6):c.1797G>A (p.Gly599=)
|
rs746770634
|
0.00001
|
NM_000287.4(PEX6):c.1798C>T (p.Gln600Ter)
|
rs1769875600
|
0.00001
|
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)
|
rs61753225
|
0.00001
|
NM_000287.4(PEX6):c.1815G>A (p.Leu605=)
|
rs746010714
|
0.00001
|
NM_000287.4(PEX6):c.1817G>A (p.Arg606Gln)
|
rs780239941
|
0.00001
|
NM_000287.4(PEX6):c.1834C>T (p.Leu612Phe)
|
rs750758458
|
0.00001
|
NM_000287.4(PEX6):c.1841del (p.Leu614fs)
|
rs863225083
|
0.00001
|
NM_000287.4(PEX6):c.1858T>C (p.Leu620=)
|
rs1365537744
|
0.00001
|
NM_000287.4(PEX6):c.1884A>G (p.Ala628=)
|
rs779124738
|
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.1885G>C (p.Gly629Arg)
|
rs753408034
|
0.00001
|
NM_000287.4(PEX6):c.188G>A (p.Gly63Asp)
|
rs1770439751
|
0.00001
|
NM_000287.4(PEX6):c.1902T>C (p.Asp634=)
|
rs761653474
|
0.00001
|
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)
|
rs746117128
|
0.00001
|
NM_000287.4(PEX6):c.1943C>T (p.Thr648Ile)
|
rs1439667922
|
0.00001
|
NM_000287.4(PEX6):c.1950C>T (p.Ile650=)
|
rs747394761
|
0.00001
|
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu)
|
rs267608228
|
0.00001
|
NM_000287.4(PEX6):c.1961+10C>T
|
rs779467530
|
0.00001
|
NM_000287.4(PEX6):c.1961+4A>C
|
rs748621080
|
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.2011G>A (p.Gly671Ser)
|
rs776805570
|
0.00001
|
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser)
|
rs752644254
|
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.2094+6G>A
|
rs1009420665
|
0.00001
|
NM_000287.4(PEX6):c.2095-18G>A
|
rs370867292
|
0.00001
|
NM_000287.4(PEX6):c.2108C>T (p.Ser703Phe)
|
rs1390565278
|
0.00001
|
NM_000287.4(PEX6):c.2109C>G (p.Ser703=)
|
rs1769810523
|
0.00001
|
NM_000287.4(PEX6):c.2142G>T (p.Lys714Asn)
|
rs371619603
|
0.00001
|
NM_000287.4(PEX6):c.2148G>A (p.Glu716=)
|
rs766104579
|
0.00001
|
NM_000287.4(PEX6):c.2157G>C (p.Glu719Asp)
|
rs1385321266
|
0.00001
|
NM_000287.4(PEX6):c.2172C>T (p.Pro724=)
|
rs1463523319
|
0.00001
|
NM_000287.4(PEX6):c.2177A>C (p.Glu726Ala)
|
rs1250862310
|
0.00001
|
NM_000287.4(PEX6):c.2182C>T (p.Pro728Ser)
|
rs577794661
|
0.00001
|
NM_000287.4(PEX6):c.2204T>C (p.Leu735Pro)
|
rs920798728
|
0.00001
|
NM_000287.4(PEX6):c.2205G>C (p.Leu735=)
|
rs1472222445
|
0.00001
|
NM_000287.4(PEX6):c.2205del (p.Arg736fs)
|
rs1197432552
|
0.00001
|
NM_000287.4(PEX6):c.2209C>T (p.Arg737Cys)
|
rs148562506
|
0.00001
|
NM_000287.4(PEX6):c.2221C>T (p.Leu741=)
|
rs558449356
|
0.00001
|
NM_000287.4(PEX6):c.2228A>G (p.His743Arg)
|
rs1313804105
|
0.00001
|
NM_000287.4(PEX6):c.2243C>T (p.Thr748Ile)
|
rs1769802405
|
0.00001
|
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser)
|
rs1244339215
|
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.2347G>A (p.Glu783Lys)
|
rs757161798
|
0.00001
|
NM_000287.4(PEX6):c.2353G>A (p.Val785Met)
|
rs747065131
|
0.00001
|
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)
|
rs267608239
|
0.00001
|
NM_000287.4(PEX6):c.2359G>A (p.Glu787Lys)
|
rs202019439
|
0.00001
|
NM_000287.4(PEX6):c.2362+15A>G
|
rs761201792
|
0.00001
|
NM_000287.4(PEX6):c.2362+1G>A
|
rs1443107232
|
0.00001
|
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)
|
rs267608240
|
0.00001
|
NM_000287.4(PEX6):c.2382T>C (p.Ala794=)
|
rs776319615
|
0.00001
|
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)
|
rs61753229
|
0.00001
|
NM_000287.4(PEX6):c.2439G>A (p.Gly813=)
|
rs139281058
|
0.00001
|
NM_000287.4(PEX6):c.2441G>A (p.Arg814Gln)
|
rs757780839
|
0.00001
|
NM_000287.4(PEX6):c.249C>T (p.Leu83=)
|
rs1438441659
|
0.00001
|
NM_000287.4(PEX6):c.2512A>G (p.Ser838Gly)
|
rs759682469
|
0.00001
|
NM_000287.4(PEX6):c.2547C>T (p.Asn849=)
|
rs1171568759
|
0.00001
|
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val)
|
rs764227040
|
0.00001
|
NM_000287.4(PEX6):c.2586C>A (p.Gly862=)
|
rs763098526
|
0.00001
|
NM_000287.4(PEX6):c.2615C>T (p.Ala872Val)
|
rs183208634
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000287.4(PEX6):c.2641C>T (p.Arg881Cys)
|
rs756846188
|
0.00001
|
NM_000287.4(PEX6):c.2666+10G>T
|
rs1391636338
|
0.00001
|
NM_000287.4(PEX6):c.2667-4A>G
|
rs1561819184
|
0.00001
|
NM_000287.4(PEX6):c.2681C>T (p.Pro894Leu)
|
rs1040199114
|
0.00001
|
NM_000287.4(PEX6):c.2693T>C (p.Leu898Pro)
|
rs1769689393
|
0.00001
|
NM_000287.4(PEX6):c.2704C>T (p.Leu902=)
|
rs368544721
|
0.00001
|
NM_000287.4(PEX6):c.2729C>T (p.Thr910Met)
|
rs762089817
|
0.00001
|
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)
|
rs1010184002
|
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.2805A>G (p.Glu935=)
|
rs918460295
|
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.2870G>A (p.Arg957Gln)
|
rs370201505
|
0.00001
|
NM_000287.4(PEX6):c.2877A>G (p.Gln959=)
|
rs562040179
|
0.00001
|
NM_000287.4(PEX6):c.2878C>T (p.Pro960Ser)
|
rs1769644652
|
0.00001
|
NM_000287.4(PEX6):c.2883A>T (p.Ser961=)
|
rs369656844
|
0.00001
|
NM_000287.4(PEX6):c.2885T>C (p.Val962Ala)
|
rs1361796630
|
0.00001
|
NM_000287.4(PEX6):c.2889T>C (p.Ser963=)
|
rs958283171
|
0.00001
|
NM_000287.4(PEX6):c.2915G>A (p.Arg972His)
|
rs751058292
|
0.00001
|
NM_000287.4(PEX6):c.2923C>T (p.Arg975Cys)
|
rs575358435
|
0.00001
|
NM_000287.4(PEX6):c.2928G>A (p.Lys976=)
|
rs1230978438
|
0.00001
|
NM_000287.4(PEX6):c.340C>T (p.Pro114Ser)
|
rs1561831093
|
0.00001
|
NM_000287.4(PEX6):c.348C>T (p.Leu116=)
|
rs746578841
|
0.00001
|
NM_000287.4(PEX6):c.358G>A (p.Val120Ile)
|
rs918929371
|
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.400C>G (p.Pro134Ala)
|
rs760985292
|
0.00001
|
NM_000287.4(PEX6):c.402C>T (p.Pro134=)
|
rs773371109
|
0.00001
|
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln)
|
rs376824422
|
0.00001
|
NM_000287.4(PEX6):c.410G>A (p.Arg137Gln)
|
rs1254025750
|
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.460C>G (p.Arg154Gly)
|
rs746681634
|
0.00001
|
NM_000287.4(PEX6):c.468T>C (p.Ala156=)
|
rs1254015920
|
0.00001
|
NM_000287.4(PEX6):c.478C>T (p.Leu160Phe)
|
rs1336576924
|
0.00001
|
NM_000287.4(PEX6):c.484G>T (p.Gly162Trp)
|
rs1359274674
|
0.00001
|
NM_000287.4(PEX6):c.496C>G (p.Leu166Val)
|
rs1770417803
|
0.00001
|
NM_000287.4(PEX6):c.510_511del (p.Asp172fs)
|
rs61753211
|
0.00001
|
NM_000287.4(PEX6):c.517del (p.Ser173fs)
|
rs61753212
|
0.00001
|
NM_000287.4(PEX6):c.533C>G (p.Pro178Arg)
|
rs1303061971
|
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.625C>T (p.Arg209Trp)
|
rs749292690
|
0.00001
|
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys)
|
rs1260446318
|
0.00001
|
NM_000287.4(PEX6):c.693A>G (p.Ser231=)
|
rs1379751437
|
0.00001
|
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly)
|
rs372269200
|
0.00001
|
NM_000287.4(PEX6):c.735A>G (p.Leu245=)
|
rs749029501
|
0.00001
|
NM_000287.4(PEX6):c.757G>A (p.Asp253Asn)
|
rs1259137255
|
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.773G>C (p.Gly258Ala)
|
rs1030087734
|
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.901A>G (p.Ile301Val)
|
rs578234477
|
0.00001
|
NM_000287.4(PEX6):c.928T>G (p.Ser310Ala)
|
rs1770228334
|
0.00001
|
NM_000287.4(PEX6):c.946C>G (p.Pro316Ala)
|
rs1200072500
|
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.115C>A (p.His39Asn)
|
rs1316023843
|
0.00001
|
NM_000288.4(PEX7):c.129G>C (p.Ala43=)
|
rs1256466654
|
0.00001
|
NM_000288.4(PEX7):c.130+1G>A
|
rs267608253
|
0.00001
|
NM_000288.4(PEX7):c.130+6G>C
|
rs1299374519
|
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.167C>G (p.Ala56Gly)
|
rs765902458
|
0.00001
|
NM_000288.4(PEX7):c.168T>A (p.Ala56=)
|
rs1159376627
|
0.00001
|
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala)
|
rs1774097181
|
0.00001
|
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254
|
0.00001
|
NM_000288.4(PEX7):c.189-17G>A
|
rs775125126
|
0.00001
|
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn)
|
rs1229970963
|
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.290C>G (p.Thr97Ser)
|
rs1391235393
|
0.00001
|
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg)
|
rs367806635
|
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.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
NM_000288.4(PEX7):c.347G>T (p.Ser116Ile)
|
rs1181412133
|
0.00001
|
NM_000288.4(PEX7):c.34C>T (p.Leu12=)
|
rs1325714867
|
0.00001
|
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
|
rs769137963
|
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.429del (p.Val144fs)
|
rs61753248
|
0.00001
|
NM_000288.4(PEX7):c.42G>A (p.Thr14=)
|
rs1253900568
|
0.00001
|
NM_000288.4(PEX7):c.442C>G (p.Leu148Val)
|
rs752606372
|
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.525A>G (p.Ser175=)
|
rs771080595
|
0.00001
|
NM_000288.4(PEX7):c.527-12C>G
|
rs1290336763
|
0.00001
|
NM_000288.4(PEX7):c.534G>C (p.Gln178His)
|
rs746010906
|
0.00001
|
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
|
rs1424846175
|
0.00001
|
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)
|
rs764924345
|
0.00001
|
NM_000288.4(PEX7):c.611G>A (p.Cys204Tyr)
|
rs368435862
|
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.701C>T (p.Pro234Leu)
|
rs759158962
|
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.782G>A (p.Cys261Tyr)
|
rs770301248
|
0.00001
|
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu)
|
rs62653610
|
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.803+4C>G
|
rs759745913
|
0.00001
|
NM_000288.4(PEX7):c.804-2A>C
|
rs774676095
|
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.903+6G>A
|
rs758226348
|
0.00001
|
NM_000288.4(PEX7):c.946C>T (p.Pro316Ser)
|
rs746310299
|
0.00001
|
NM_000288.4(PEX7):c.961A>G (p.Ile321Val)
|
rs879706210
|
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.112A>G (p.Thr38Ala)
|
rs935435870
|
0.00001
|
NM_000318.3(PEX2):c.129A>G (p.Gly43=)
|
rs779946897
|
0.00001
|
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)
|
rs1224562361
|
0.00001
|
NM_000318.3(PEX2):c.173C>T (p.Ala58Val)
|
rs760636932
|
0.00001
|
NM_000318.3(PEX2):c.195G>T (p.Trp65Cys)
|
rs771377186
|
0.00001
|
NM_000318.3(PEX2):c.205A>G (p.Ile69Val)
|
rs747866716
|
0.00001
|
NM_000318.3(PEX2):c.206T>C (p.Ile69Thr)
|
rs1180720095
|
0.00001
|
NM_000318.3(PEX2):c.226G>T (p.Val76Leu)
|
rs1429397131
|
0.00001
|
NM_000318.3(PEX2):c.23C>T (p.Ala8Val)
|
rs148428490
|
0.00001
|
NM_000318.3(PEX2):c.252G>A (p.Lys84=)
|
rs1294597760
|
0.00001
|
NM_000318.3(PEX2):c.312C>G (p.Ile104Met)
|
rs1242924229
|
0.00001
|
NM_000318.3(PEX2):c.327T>C (p.Cys109=)
|
rs746604322
|
0.00001
|
NM_000318.3(PEX2):c.331A>G (p.Ile111Val)
|
rs774994658
|
0.00001
|
NM_000318.3(PEX2):c.335G>C (p.Gly112Ala)
|
rs745832638
|
0.00001
|
NM_000318.3(PEX2):c.348A>G (p.Leu116=)
|
rs777560932
|
0.00001
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
NM_000318.3(PEX2):c.456T>G (p.Ile152Met)
|
rs1475014070
|
0.00001
|
NM_000318.3(PEX2):c.45A>G (p.Leu15=)
|
rs761947470
|
0.00001
|
NM_000318.3(PEX2):c.461T>C (p.Phe154Ser)
|
rs755169713
|
0.00001
|
NM_000318.3(PEX2):c.466A>G (p.Ile156Val)
|
rs148972539
|
0.00001
|
NM_000318.3(PEX2):c.481G>A (p.Gly161Arg)
|
rs377669414
|
0.00001
|
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu)
|
rs761177481
|
0.00001
|
NM_000318.3(PEX2):c.517A>G (p.Ile173Val)
|
rs773748299
|
0.00001
|
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)
|
rs770427885
|
0.00001
|
NM_000318.3(PEX2):c.577A>G (p.Arg193Gly)
|
rs1806905614
|
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.635A>G (p.Asn212Ser)
|
rs764386648
|
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.703A>G (p.Asn235Asp)
|
rs1345316527
|
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.742G>A (p.Gly248Arg)
|
rs1277419329
|
0.00001
|
NM_000318.3(PEX2):c.768C>T (p.Thr256=)
|
rs1806896232
|
0.00001
|
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp)
|
rs977528373
|
0.00001
|
NM_000318.3(PEX2):c.782A>G (p.His261Arg)
|
rs749956542
|
0.00001
|
NM_000318.3(PEX2):c.869T>G (p.Leu290Arg)
|
rs756496949
|
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.1021C>G (p.Pro341Ala)
|
rs137856931
|
0.00001
|
NM_000466.3(PEX1):c.1099C>A (p.Gln367Lys)
|
rs140990231
|
0.00001
|
NM_000466.3(PEX1):c.111C>G (p.Ala37=)
|
rs1412682486
|
0.00001
|
NM_000466.3(PEX1):c.1126del (p.Glu376fs)
|
rs751829426
|
0.00001
|
NM_000466.3(PEX1):c.1166A>G (p.Asn389Ser)
|
rs1179674772
|
0.00001
|
NM_000466.3(PEX1):c.1187A>G (p.Asn396Ser)
|
rs398123407
|
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.1277T>C (p.Met426Thr)
|
rs780611674
|
0.00001
|
NM_000466.3(PEX1):c.1285G>A (p.Val429Ile)
|
rs780349018
|
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.1407G>T (p.Trp469Cys)
|
rs746349696
|
0.00001
|
NM_000466.3(PEX1):c.1412A>G (p.Gln471Arg)
|
rs1219227236
|
0.00001
|
NM_000466.3(PEX1):c.1483+8C>T
|
rs911755069
|
0.00001
|
NM_000466.3(PEX1):c.1507A>G (p.Ile503Val)
|
rs771520057
|
0.00001
|
NM_000466.3(PEX1):c.1516T>C (p.Ser506Pro)
|
rs778220793
|
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.15T>A (p.Asp5Glu)
|
rs201385649
|
0.00001
|
NM_000466.3(PEX1):c.1609A>G (p.Lys537Glu)
|
rs1378023176
|
0.00001
|
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys)
|
rs917874479
|
0.00001
|
NM_000466.3(PEX1):c.1621A>G (p.Ser541Gly)
|
rs1204334087
|
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.1690G>A (p.Val564Ile)
|
rs183965018
|
0.00001
|
NM_000466.3(PEX1):c.1695C>T (p.Ser565=)
|
rs760925480
|
0.00001
|
NM_000466.3(PEX1):c.169T>C (p.Phe57Leu)
|
rs1162642408
|
0.00001
|
NM_000466.3(PEX1):c.1714C>G (p.His572Asp)
|
rs1167491787
|
0.00001
|
NM_000466.3(PEX1):c.1750A>G (p.Met584Val)
|
rs758085238
|
0.00001
|
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)
|
rs1364124177
|
0.00001
|
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys)
|
rs754337792
|
0.00001
|
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)
|
rs61750407
|
0.00001
|
NM_000466.3(PEX1):c.1791C>T (p.Leu597=)
|
rs1370887577
|
0.00001
|
NM_000466.3(PEX1):c.1795G>T (p.Gly599Ter)
|
rs1792222710
|
0.00001
|
NM_000466.3(PEX1):c.1804-16A>T
|
rs1313790749
|
0.00001
|
NM_000466.3(PEX1):c.1810G>A (p.Gly604Arg)
|
rs148427398
|
0.00001
|
NM_000466.3(PEX1):c.1851T>A (p.Phe617Leu)
|
rs762766482
|
0.00001
|
NM_000466.3(PEX1):c.1901-8G>A
|
rs1260085410
|
0.00001
|
NM_000466.3(PEX1):c.1916A>T (p.Asn639Ile)
|
rs200438144
|
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.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)
|
rs1057517501
|
0.00001
|
NM_000466.3(PEX1):c.2026C>T (p.His676Tyr)
|
rs759330849
|
0.00001
|
NM_000466.3(PEX1):c.2071+1G>T
|
rs267608177
|
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.2138A>G (p.Gln713Arg)
|
rs1356967048
|
0.00001
|
NM_000466.3(PEX1):c.2174C>T (p.Ala725Val)
|
rs1268325040
|
0.00001
|
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg)
|
rs147069266
|
0.00001
|
NM_000466.3(PEX1):c.2226+8A>T
|
rs772716358
|
0.00001
|
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)
|
rs398123409
|
0.00001
|
NM_000466.3(PEX1):c.2278G>C (p.Asp760His)
|
rs757149759
|
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.2375T>C (p.Ile792Thr)
|
rs747899377
|
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.2456G>A (p.Arg819His)
|
rs376273608
|
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.2518_2520del (p.Asp840del)
|
rs1385204416
|
0.00001
|
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe)
|
rs202090176
|
0.00001
|
NM_000466.3(PEX1):c.2583+1G>T
|
rs771586413
|
0.00001
|
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
|
rs61750422
|
0.00001
|
NM_000466.3(PEX1):c.2632C>T (p.Leu878=)
|
rs766615075
|
0.00001
|
NM_000466.3(PEX1):c.263A>T (p.Asn88Ile)
|
rs763218526
|
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.2707A>G (p.Ile903Val)
|
rs1009218596
|
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.2719-1G>A
|
rs1791673946
|
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.2743A>T (p.Ile915Phe)
|
rs376029287
|
0.00001
|
NM_000466.3(PEX1):c.2744T>C (p.Ile915Thr)
|
rs757305859
|
0.00001
|
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp)
|
rs780992963
|
0.00001
|
NM_000466.3(PEX1):c.2783+11T>A
|
rs762637904
|
0.00001
|
NM_000466.3(PEX1):c.2783+4G>A
|
rs751416309
|
0.00001
|
NM_000466.3(PEX1):c.2789A>G (p.Gln930Arg)
|
rs201376737
|
0.00001
|
NM_000466.3(PEX1):c.282C>G (p.Leu94=)
|
rs201368809
|
0.00001
|
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val)
|
rs753349772
|
0.00001
|
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)
|
rs866184460
|
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.289T>C (p.Cys97Arg)
|
rs1792936652
|
0.00001
|
NM_000466.3(PEX1):c.2926+2T>C
|
rs267608180
|
0.00001
|
NM_000466.3(PEX1):c.2926+4A>G
|
rs749060853
|
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.2942C>T (p.Ala981Val)
|
rs780843399
|
0.00001
|
NM_000466.3(PEX1):c.2947A>C (p.Thr983Pro)
|
rs1791533248
|
0.00001
|
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln)
|
rs61750429
|
0.00001
|
NM_000466.3(PEX1):c.3007G>A (p.Val1003Ile)
|
rs147055244
|
0.00001
|
NM_000466.3(PEX1):c.3030+7A>G
|
rs373933048
|
0.00001
|
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro)
|
rs1484321655
|
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.3151C>A (p.Leu1051Ile)
|
rs138992611
|
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.3208-1G>A
|
rs1057517518
|
0.00001
|
NM_000466.3(PEX1):c.3208-3T>C
|
rs763767937
|
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.3304T>C (p.Cys1102Arg)
|
rs752475812
|
0.00001
|
NM_000466.3(PEX1):c.3369C>T (p.Phe1123=)
|
rs773621481
|
0.00001
|
NM_000466.3(PEX1):c.3383T>A (p.Leu1128His)
|
rs747206901
|
0.00001
|
NM_000466.3(PEX1):c.3439-13A>G
|
rs756042510
|
0.00001
|
NM_000466.3(PEX1):c.3483G>C (p.Leu1161Phe)
|
rs375607384
|
0.00001
|
NM_000466.3(PEX1):c.3485C>G (p.Pro1162Arg)
|
rs139869362
|
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.3598A>T (p.Ile1200Phe)
|
rs886043722
|
0.00001
|
NM_000466.3(PEX1):c.35G>A (p.Gly12Glu)
|
rs747408581
|
0.00001
|
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=)
|
rs753334806
|
0.00001
|
NM_000466.3(PEX1):c.3636+4T>C
|
rs764752742
|
0.00001
|
NM_000466.3(PEX1):c.3637-19A>G
|
rs367814599
|
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.3665C>T (p.Pro1222Leu)
|
rs371575516
|
0.00001
|
NM_000466.3(PEX1):c.3678A>T (p.Arg1226Ser)
|
rs1173172739
|
0.00001
|
NM_000466.3(PEX1):c.3687T>C (p.Ile1229=)
|
rs368274049
|
0.00001
|
NM_000466.3(PEX1):c.3692A>G (p.Gln1231Arg)
|
rs766682184
|
0.00001
|
NM_000466.3(PEX1):c.3710C>T (p.Ala1237Val)
|
rs1473858573
|
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.3772G>A (p.Glu1258Lys)
|
rs749050363
|
0.00001
|
NM_000466.3(PEX1):c.3801A>G (p.Lys1267=)
|
rs375758017
|
0.00001
|
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter)
|
rs755549316
|
0.00001
|
NM_000466.3(PEX1):c.3839T>A (p.Val1280Glu)
|
rs765142376
|
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.404G>A (p.Arg135Gln)
|
rs754529845
|
0.00001
|
NM_000466.3(PEX1):c.440T>C (p.Val147Ala)
|
rs750928084
|
0.00001
|
NM_000466.3(PEX1):c.457A>G (p.Ile153Val)
|
rs200106153
|
0.00001
|
NM_000466.3(PEX1):c.458T>C (p.Ile153Thr)
|
rs760942926
|
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.541A>C (p.Thr181Pro)
|
rs775093154
|
0.00001
|
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
NM_000466.3(PEX1):c.579T>C (p.Asp193=)
|
rs1562866985
|
0.00001
|
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)
|
rs762679408
|
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.659C>T (p.Ser220Leu)
|
rs759048090
|
0.00001
|
NM_000466.3(PEX1):c.688G>A (p.Glu230Lys)
|
rs781371997
|
0.00001
|
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
|
rs1463386429
|
0.00001
|
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)
|
rs754890130
|
0.00001
|
NM_000466.3(PEX1):c.724G>A (p.Val242Ile)
|
rs764044654
|
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.814G>A (p.Ala272Thr)
|
rs528610267
|
0.00001
|
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg)
|
rs886062506
|
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.853A>G (p.Asn285Asp)
|
rs1407539383
|
0.00001
|
NM_000466.3(PEX1):c.854A>G (p.Asn285Ser)
|
rs781103940
|
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_000466.3(PEX1):c.953A>G (p.Asp318Gly)
|
rs751341597
|
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.169A>G (p.Thr57Ala)
|
rs769260247
|
0.00001
|
NM_001127649.3(PEX26):c.205G>A (p.Ala69Thr)
|
rs372192286
|
0.00001
|
NM_001127649.3(PEX26):c.217G>C (p.Glu73Gln)
|
rs758179855
|
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.262G>T (p.Val88Leu)
|
rs555951210
|
0.00001
|
NM_001127649.3(PEX26):c.281C>G (p.Ala94Gly)
|
rs761216250
|
0.00001
|
NM_001127649.3(PEX26):c.30C>T (p.Ala10=)
|
rs774393110
|
0.00001
|
NM_001127649.3(PEX26):c.310T>A (p.Ser104Thr)
|
rs148629338
|
0.00001
|
NM_001127649.3(PEX26):c.312C>T (p.Ser104=)
|
rs1926484707
|
0.00001
|
NM_001127649.3(PEX26):c.35T>A (p.Leu12His)
|
rs1476091565
|
0.00001
|
NM_001127649.3(PEX26):c.371+8T>G
|
rs778162874
|
0.00001
|
NM_001127649.3(PEX26):c.372-9G>T
|
rs1926701070
|
0.00001
|
NM_001127649.3(PEX26):c.39G>A (p.Arg13=)
|
rs753275056
|
0.00001
|
NM_001127649.3(PEX26):c.425G>A (p.Gly142Asp)
|
rs1926704169
|
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.490G>A (p.Val164Met)
|
rs1161672696
|
0.00001
|
NM_001127649.3(PEX26):c.506T>C (p.Leu169Pro)
|
rs768604587
|
0.00001
|
NM_001127649.3(PEX26):c.529G>A (p.Ala177Thr)
|
rs1466173209
|
0.00001
|
NM_001127649.3(PEX26):c.540A>G (p.Leu180=)
|
rs374381444
|
0.00001
|
NM_001127649.3(PEX26):c.554C>T (p.Ala185Val)
|
rs370147115
|
0.00001
|
NM_001127649.3(PEX26):c.56T>C (p.Leu19Pro)
|
rs1287277452
|
0.00001
|
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter)
|
rs61752136
|
0.00001
|
NM_001127649.3(PEX26):c.587T>A (p.Leu196His)
|
rs1926714377
|
0.00001
|
NM_001127649.3(PEX26):c.605C>T (p.Ala202Val)
|
rs778822723
|
0.00001
|
NM_001127649.3(PEX26):c.627A>T (p.Glu209Asp)
|
rs1344950383
|
0.00001
|
NM_001127649.3(PEX26):c.628C>T (p.His210Tyr)
|
rs1199052809
|
0.00001
|
NM_001127649.3(PEX26):c.662T>G (p.Leu221Arg)
|
rs767345970
|
0.00001
|
NM_001127649.3(PEX26):c.667+20C>T
|
rs754430783
|
0.00001
|
NM_001127649.3(PEX26):c.667+2T>C
|
rs267608191
|
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.673G>A (p.Val225Ile)
|
rs368290011
|
0.00001
|
NM_001127649.3(PEX26):c.680A>T (p.His227Leu)
|
rs776806184
|
0.00001
|
NM_001127649.3(PEX26):c.685T>C (p.Phe229Leu)
|
rs1331262454
|
0.00001
|
NM_001127649.3(PEX26):c.698C>T (p.Pro233Leu)
|
rs765734604
|
0.00001
|
NM_001127649.3(PEX26):c.71C>G (p.Pro24Arg)
|
rs771847925
|
0.00001
|
NM_001127649.3(PEX26):c.742T>G (p.Phe248Val)
|
rs1242355055
|
0.00001
|
NM_001127649.3(PEX26):c.758A>G (p.Lys253Arg)
|
rs1442402838
|
0.00001
|
NM_001127649.3(PEX26):c.776C>T (p.Ala259Val)
|
rs1438615858
|
0.00001
|
NM_001127649.3(PEX26):c.788G>C (p.Cys263Ser)
|
rs770160225
|
0.00001
|
NM_001127649.3(PEX26):c.799G>A (p.Val267Met)
|
rs1376246557
|
0.00001
|
NM_001127649.3(PEX26):c.79G>A (p.Ala27Thr)
|
rs374630564
|
0.00001
|
NM_001127649.3(PEX26):c.815-10T>G
|
rs794727805
|
0.00001
|
NM_001127649.3(PEX26):c.817T>G (p.Ser273Ala)
|
rs745490062
|
0.00001
|
NM_001127649.3(PEX26):c.854A>G (p.Gln285Arg)
|
rs767603690
|
0.00001
|
NM_001127649.3(PEX26):c.857T>C (p.Leu286Pro)
|
rs750644243
|
0.00001
|
NM_001127649.3(PEX26):c.86C>A (p.Pro29Gln)
|
rs1926394690
|
0.00001
|
NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys)
|
rs780701336
|
0.00001
|
NM_001127649.3(PEX26):c.890G>A (p.Arg297His)
|
rs1290168962
|
0.00001
|
NM_001127649.3(PEX26):c.910C>T (p.Arg304Cys)
|
rs772069004
|
0.00001
|
NM_001127649.3(PEX26):c.99G>A (p.Pro33=)
|
rs1284941471
|
0.00001
|
NM_001351132.2(PEX5):c.1031G>A (p.Arg344Gln)
|
rs892031813
|
0.00001
|
NM_001351132.2(PEX5):c.1044G>T (p.Glu348Asp)
|
rs746001175
|
0.00001
|
NM_001351132.2(PEX5):c.1052T>C (p.Leu351Pro)
|
rs1220028381
|
0.00001
|
NM_001351132.2(PEX5):c.1057A>G (p.Asn353Asp)
|
rs971400240
|
0.00001
|
NM_001351132.2(PEX5):c.1059T>C (p.Asn353=)
|
rs775565970
|
0.00001
|
NM_001351132.2(PEX5):c.1097C>T (p.Pro366Leu)
|
rs764934631
|
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.1111-12A>G
|
rs371599161
|
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.121C>T (p.Pro41Ser)
|
rs781410836
|
0.00001
|
NM_001351132.2(PEX5):c.1223C>T (p.Ala408Val)
|
rs1218031120
|
0.00001
|
NM_001351132.2(PEX5):c.1255C>T (p.Gln419Ter)
|
rs1300934931
|
0.00001
|
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter)
|
rs777735499
|
0.00001
|
NM_001351132.2(PEX5):c.1288C>T (p.Leu430=)
|
rs1399663676
|
0.00001
|
NM_001351132.2(PEX5):c.1291C>T (p.Arg431Trp)
|
rs765682048
|
0.00001
|
NM_001351132.2(PEX5):c.1292G>A (p.Arg431Gln)
|
rs144901507
|
0.00001
|
NM_001351132.2(PEX5):c.1293G>A (p.Arg431=)
|
rs1242502801
|
0.00001
|
NM_001351132.2(PEX5):c.131C>G (p.Ala44Gly)
|
rs372992555
|
0.00001
|
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=)
|
rs778715159
|
0.00001
|
NM_001351132.2(PEX5):c.1357G>A (p.Gly453Ser)
|
rs1190413911
|
0.00001
|
NM_001351132.2(PEX5):c.1370G>A (p.Arg457His)
|
rs758827048
|
0.00001
|
NM_001351132.2(PEX5):c.1375C>G (p.Leu459Val)
|
rs375947901
|
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.1430C>A (p.Ala477Glu)
|
rs779806201
|
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.149C>T (p.Ala50Val)
|
rs1311355339
|
0.00001
|
NM_001351132.2(PEX5):c.1513G>A (p.Asp505Asn)
|
rs775935095
|
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.1560T>C (p.Asn520=)
|
rs140330381
|
0.00001
|
NM_001351132.2(PEX5):c.1639C>T (p.Arg547Trp)
|
rs760402644
|
0.00001
|
NM_001351132.2(PEX5):c.1644C>T (p.Ala548=)
|
rs920189030
|
0.00001
|
NM_001351132.2(PEX5):c.1664A>G (p.Tyr555Cys)
|
rs1169699895
|
0.00001
|
NM_001351132.2(PEX5):c.1665T>C (p.Tyr555=)
|
rs781643068
|
0.00001
|
NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp)
|
rs1281539463
|
0.00001
|
NM_001351132.2(PEX5):c.1718+6A>C
|
rs764840661
|
0.00001
|
NM_001351132.2(PEX5):c.1718G>A (p.Arg573Gln)
|
rs776481733
|
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.1790G>A (p.Gly597Asp)
|
rs772805558
|
0.00001
|
NM_001351132.2(PEX5):c.17T>C (p.Leu6Pro)
|
rs1245227342
|
0.00001
|
NM_001351132.2(PEX5):c.1806C>T (p.Asn602=)
|
rs1414114941
|
0.00001
|
NM_001351132.2(PEX5):c.1822C>T (p.Arg608Cys)
|
rs372635542
|
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.1831T>G (p.Leu611Val)
|
rs200266963
|
0.00001
|
NM_001351132.2(PEX5):c.1851C>T (p.Ser617=)
|
rs755085818
|
0.00001
|
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn)
|
rs201963167
|
0.00001
|
NM_001351132.2(PEX5):c.1877G>A (p.Arg626Gln)
|
rs762252851
|
0.00001
|
NM_001351132.2(PEX5):c.205G>A (p.Asp69Asn)
|
rs1941048067
|
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.241A>T (p.Thr81Ser)
|
rs769373976
|
0.00001
|
NM_001351132.2(PEX5):c.28G>A (p.Glu10Lys)
|
rs747725502
|
0.00001
|
NM_001351132.2(PEX5):c.292A>G (p.Asn98Asp)
|
rs374327439
|
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.34G>A (p.Gly12Arg)
|
rs398123571
|
0.00001
|
NM_001351132.2(PEX5):c.351C>G (p.Asn117Lys)
|
rs1354610463
|
0.00001
|
NM_001351132.2(PEX5):c.368T>C (p.Leu123Pro)
|
rs777324636
|
0.00001
|
NM_001351132.2(PEX5):c.381T>C (p.Asp127=)
|
rs201467035
|
0.00001
|
NM_001351132.2(PEX5):c.38G>T (p.Gly13Val)
|
rs1940802625
|
0.00001
|
NM_001351132.2(PEX5):c.41C>T (p.Ala14Val)
|
rs768332537
|
0.00001
|
NM_001351132.2(PEX5):c.431T>G (p.Phe144Cys)
|
rs1175995959
|
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.547C>T (p.Arg183Cys)
|
rs746104983
|
0.00001
|
NM_001351132.2(PEX5):c.548G>A (p.Arg183His)
|
rs772215584
|
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.568C>T (p.Pro190Ser)
|
rs1410451415
|
0.00001
|
NM_001351132.2(PEX5):c.583C>T (p.Gln195Ter)
|
rs890363450
|
0.00001
|
NM_001351132.2(PEX5):c.620A>G (p.Asp207Gly)
|
rs1011160954
|
0.00001
|
NM_001351132.2(PEX5):c.663G>A (p.Gln221=)
|
rs886043565
|
0.00001
|
NM_001351132.2(PEX5):c.667G>A (p.Gly223Ser)
|
rs771879452
|
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.709C>T (p.Arg237Ter)
|
rs777733574
|
0.00001
|
NM_001351132.2(PEX5):c.750G>C (p.Gln250His)
|
rs1239267747
|
0.00001
|
NM_001351132.2(PEX5):c.753+13C>T
|
rs747606192
|
0.00001
|
NM_001351132.2(PEX5):c.758C>T (p.Thr253Ile)
|
rs747765156
|
0.00001
|
NM_001351132.2(PEX5):c.78G>C (p.Gln26His)
|
rs1940818656
|
0.00001
|
NM_001351132.2(PEX5):c.800C>T (p.Thr267Ile)
|
rs759083753
|
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.92G>A (p.Arg31Gln)
|
rs190526209
|
0.00001
|
NM_001351132.2(PEX5):c.965A>T (p.Lys322Met)
|
rs770028664
|
0.00001
|
NM_001351132.2(PEX5):c.966+9A>G
|
rs1389020583
|
0.00001
|
NM_001351132.2(PEX5):c.967-3dup
|
rs777815209
|
0.00001
|
NM_001351132.2(PEX5):c.990C>T (p.Asn330=)
|
rs781775833
|
0.00001
|
NM_001351132.2(PEX5):c.991C>T (p.Pro331Ser)
|
rs1311867918
|
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.120G>T (p.Arg40Ser)
|
rs1363831554
|
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.211G>T (p.Glu71Ter)
|
rs1291325133
|
0.00001
|
NM_002617.4(PEX10):c.246G>A (p.Ser82=)
|
rs370810788
|
0.00001
|
NM_002617.4(PEX10):c.248G>A (p.Arg83Gln)
|
rs372894429
|
0.00001
|
NM_002617.4(PEX10):c.266C>T (p.Ser89Leu)
|
rs769847524
|
0.00001
|
NM_002617.4(PEX10):c.272G>A (p.Arg91His)
|
rs778774616
|
0.00001
|
NM_002617.4(PEX10):c.29A>C (p.Glu10Ala)
|
rs1367685379
|
0.00001
|
NM_002617.4(PEX10):c.300C>T (p.Ala100=)
|
rs759667036
|
0.00001
|
NM_002617.4(PEX10):c.307C>G (p.Pro103Ala)
|
rs1299562078
|
0.00001
|
NM_002617.4(PEX10):c.333C>A (p.Leu111=)
|
rs781710848
|
0.00001
|
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro)
|
rs757778155
|
0.00001
|
NM_002617.4(PEX10):c.344A>G (p.Gln115Arg)
|
rs778031802
|
0.00001
|
NM_002617.4(PEX10):c.351G>A (p.Leu117=)
|
rs758743429
|
0.00001
|
NM_002617.4(PEX10):c.371G>A (p.Gly124Glu)
|
rs1169193497
|
0.00001
|
NM_002617.4(PEX10):c.372G>A (p.Gly124=)
|
rs766506813
|
0.00001
|
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
|
rs61750434
|
0.00001
|
NM_002617.4(PEX10):c.378C>G (p.Pro126=)
|
rs762783424
|
0.00001
|
NM_002617.4(PEX10):c.390C>G (p.Ser130Arg)
|
rs1425257705
|
0.00001
|
NM_002617.4(PEX10):c.417A>G (p.Ser139=)
|
rs780687424
|
0.00001
|
NM_002617.4(PEX10):c.421G>A (p.Ala141Thr)
|
rs747538698
|
0.00001
|
NM_002617.4(PEX10):c.422C>T (p.Ala141Val)
|
rs778322648
|
0.00001
|
NM_002617.4(PEX10):c.436C>T (p.Arg146Cys)
|
rs1184194956
|
0.00001
|
NM_002617.4(PEX10):c.437G>A (p.Arg146His)
|
rs1471507257
|
0.00001
|
NM_002617.4(PEX10):c.438T>C (p.Arg146=)
|
rs1323790624
|
0.00001
|
NM_002617.4(PEX10):c.43G>A (p.Ala15Thr)
|
rs1438725093
|
0.00001
|
NM_002617.4(PEX10):c.449C>T (p.Ala150Val)
|
rs776218721
|
0.00001
|
NM_002617.4(PEX10):c.488C>T (p.Ala163Val)
|
rs750507518
|
0.00001
|
NM_002617.4(PEX10):c.496G>A (p.Val166Ile)
|
rs368864383
|
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.538G>T (p.Ala180Ser)
|
rs769189410
|
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.601-18G>C
|
rs149822209
|
0.00001
|
NM_002617.4(PEX10):c.601-30C>T
|
rs776096476
|
0.00001
|
NM_002617.4(PEX10):c.601-33G>A
|
rs1187656235
|
0.00001
|
NM_002617.4(PEX10):c.601-39C>T
|
rs1469160710
|
0.00001
|
NM_002617.4(PEX10):c.601-3C>G
|
rs369643163
|
0.00001
|
NM_002617.4(PEX10):c.601-52G>A
|
rs763636557
|
0.00001
|
NM_002617.4(PEX10):c.601-56C>T
|
rs761449217
|
0.00001
|
NM_002617.4(PEX10):c.601-63C>T
|
rs1172587431
|
0.00001
|
NM_002617.4(PEX10):c.623G>A (p.Gly208Glu)
|
rs753300436
|
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.668T>C (p.Ile223Thr)
|
rs780850148
|
0.00001
|
NM_002617.4(PEX10):c.677T>C (p.Leu226Pro)
|
rs746710198
|
0.00001
|
NM_002617.4(PEX10):c.690G>A (p.Leu230=)
|
rs755446919
|
0.00001
|
NM_002617.4(PEX10):c.698G>A (p.Gly233Glu)
|
rs372574195
|
0.00001
|
NM_002617.4(PEX10):c.718A>G (p.Arg240Gly)
|
rs1424367364
|
0.00001
|
NM_002617.4(PEX10):c.719G>A (p.Arg240Lys)
|
rs1419912761
|
0.00001
|
NM_002617.4(PEX10):c.751C>A (p.Leu251Met)
|
rs1355235678
|
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.827G>T (p.Cys276Phe)
|
rs1414973726
|
0.00001
|
NM_002617.4(PEX10):c.834G>A (p.Glu278=)
|
rs542788558
|
0.00001
|
NM_002617.4(PEX10):c.835G>A (p.Glu279Lys)
|
rs62641225
|
0.00001
|
NM_002617.4(PEX10):c.838C>T (p.Arg280Cys)
|
rs750424221
|
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.864C>T (p.Cys288=)
|
rs762621687
|
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.8C>G (p.Pro3Arg)
|
rs528381804
|
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.913-2A>C
|
rs758250423
|
0.00001
|
NM_002617.4(PEX10):c.913-3C>T
|
rs777570617
|
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.919T>C (p.Cys307Arg)
|
rs1418762869
|
0.00001
|
NM_002617.4(PEX10):c.922C>T (p.Pro308Ser)
|
rs1402121158
|
0.00001
|
NM_002617.4(PEX10):c.924C>A (p.Pro308=)
|
rs1375703281
|
0.00001
|
NM_002617.4(PEX10):c.931C>T (p.Arg311Trp)
|
rs765965290
|
0.00001
|
NM_002617.4(PEX10):c.93C>G (p.Gly31=)
|
rs1027184356
|
0.00001
|
NM_002617.4(PEX10):c.940T>C (p.Phe314Leu)
|
rs148057567
|
0.00001
|
NM_002617.4(PEX10):c.963C>T (p.Tyr321=)
|
rs780114946
|
0.00001
|
NM_002617.4(PEX10):c.977G>A (p.Arg326His)
|
rs140890506
|
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.1000C>A (p.Leu334Ile)
|
rs149581494
|
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.1019G>C (p.Arg340Thr)
|
rs755008779
|
0.00001
|
NM_002618.4(PEX13):c.103T>A (p.Leu35Met)
|
rs752671523
|
0.00001
|
NM_002618.4(PEX13):c.1053G>C (p.Gln351His)
|
rs759524829
|
0.00001
|
NM_002618.4(PEX13):c.1058A>G (p.Gln353Arg)
|
rs755510406
|
0.00001
|
NM_002618.4(PEX13):c.1059A>G (p.Gln353=)
|
rs892266553
|
0.00001
|
NM_002618.4(PEX13):c.1070A>G (p.Asn357Ser)
|
rs144300539
|
0.00001
|
NM_002618.4(PEX13):c.1094C>T (p.Thr365Met)
|
rs769398640
|
0.00001
|
NM_002618.4(PEX13):c.1095G>A (p.Thr365=)
|
rs754460647
|
0.00001
|
NM_002618.4(PEX13):c.1132G>A (p.Glu378Lys)
|
rs1167111884
|
0.00001
|
NM_002618.4(PEX13):c.1158G>A (p.Lys386=)
|
rs371789976
|
0.00001
|
NM_002618.4(PEX13):c.116T>C (p.Leu39Ser)
|
rs1351769986
|
0.00001
|
NM_002618.4(PEX13):c.1183G>A (p.Gly395Arg)
|
rs1337201612
|
0.00001
|
NM_002618.4(PEX13):c.122C>T (p.Thr41Ile)
|
rs1282669816
|
0.00001
|
NM_002618.4(PEX13):c.130G>A (p.Gly44Arg)
|
rs1281056404
|
0.00001
|
NM_002618.4(PEX13):c.139G>A (p.Ala47Thr)
|
rs1292631867
|
0.00001
|
NM_002618.4(PEX13):c.14C>T (p.Pro5Leu)
|
rs898062680
|
0.00001
|
NM_002618.4(PEX13):c.154C>A (p.Pro52Thr)
|
rs1210739309
|
0.00001
|
NM_002618.4(PEX13):c.166C>T (p.Leu56Phe)
|
rs1292485549
|
0.00001
|
NM_002618.4(PEX13):c.1A>G (p.Met1Val)
|
rs1201215154
|
0.00001
|
NM_002618.4(PEX13):c.201dup (p.Val68fs)
|
rs1288976071
|
0.00001
|
NM_002618.4(PEX13):c.217C>G (p.Pro73Ala)
|
rs767895802
|
0.00001
|
NM_002618.4(PEX13):c.241G>A (p.Gly81Arg)
|
rs892846278
|
0.00001
|
NM_002618.4(PEX13):c.257G>A (p.Gly86Glu)
|
rs752312334
|
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.311G>A (p.Gly104Asp)
|
rs773664586
|
0.00001
|
NM_002618.4(PEX13):c.319C>T (p.Arg107Cys)
|
rs776824458
|
0.00001
|
NM_002618.4(PEX13):c.322C>T (p.Leu108Phe)
|
rs138030119
|
0.00001
|
NM_002618.4(PEX13):c.374G>A (p.Ser125Asn)
|
rs748193136
|
0.00001
|
NM_002618.4(PEX13):c.381G>A (p.Arg127=)
|
rs772627459
|
0.00001
|
NM_002618.4(PEX13):c.403A>T (p.Ser135Cys)
|
rs1357787046
|
0.00001
|
NM_002618.4(PEX13):c.409G>A (p.Val137Met)
|
rs768438349
|
0.00001
|
NM_002618.4(PEX13):c.433A>G (p.Met145Val)
|
rs1345860074
|
0.00001
|
NM_002618.4(PEX13):c.43C>T (p.Arg15Cys)
|
rs1311634962
|
0.00001
|
NM_002618.4(PEX13):c.44G>A (p.Arg15His)
|
rs576438646
|
0.00001
|
NM_002618.4(PEX13):c.450C>T (p.Thr150=)
|
rs1228236816
|
0.00001
|
NM_002618.4(PEX13):c.464A>G (p.Tyr155Cys)
|
rs1298522041
|
0.00001
|
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter)
|
rs369851185
|
0.00001
|
NM_002618.4(PEX13):c.46C>T (p.Arg16Ter)
|
rs1178588746
|
0.00001
|
NM_002618.4(PEX13):c.493G>A (p.Ala165Thr)
|
rs1481858907
|
0.00001
|
NM_002618.4(PEX13):c.500A>G (p.His167Arg)
|
rs1336772620
|
0.00001
|
NM_002618.4(PEX13):c.509G>A (p.Arg170Gln)
|
rs779100414
|
0.00001
|
NM_002618.4(PEX13):c.534G>T (p.Val178=)
|
rs1162525817
|
0.00001
|
NM_002618.4(PEX13):c.565C>T (p.Arg189Trp)
|
rs771451906
|
0.00001
|
NM_002618.4(PEX13):c.569A>G (p.Tyr190Cys)
|
rs763396088
|
0.00001
|
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln)
|
rs761487103
|
0.00001
|
NM_002618.4(PEX13):c.592A>T (p.Met198Leu)
|
rs760577554
|
0.00001
|
NM_002618.4(PEX13):c.611G>A (p.Gly204Asp)
|
rs752948360
|
0.00001
|
NM_002618.4(PEX13):c.620A>C (p.Asn207Thr)
|
rs1316575619
|
0.00001
|
NM_002618.4(PEX13):c.64C>T (p.Pro22Ser)
|
rs1466677796
|
0.00001
|
NM_002618.4(PEX13):c.659G>A (p.Cys220Tyr)
|
rs988856957
|
0.00001
|
NM_002618.4(PEX13):c.66G>A (p.Pro22=)
|
rs1264694420
|
0.00001
|
NM_002618.4(PEX13):c.691G>A (p.Ala231Thr)
|
rs1471254251
|
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.8C>G (p.Ser3Cys)
|
rs950397917
|
0.00001
|
NM_002618.4(PEX13):c.905C>G (p.Ala302Gly)
|
rs770549469
|
0.00001
|
NM_002618.4(PEX13):c.913+5T>G
|
rs1380556679
|
0.00001
|
NM_002618.4(PEX13):c.914-8T>G
|
rs769302153
|
0.00001
|
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter)
|
rs1428782325
|
0.00001
|
NM_002618.4(PEX13):c.94T>C (p.Ser32Pro)
|
rs759610758
|
0.00001
|
NM_002618.4(PEX13):c.961C>G (p.Gln321Glu)
|
rs765658938
|
0.00001
|
NM_002618.4(PEX13):c.967A>C (p.Thr323Pro)
|
rs753122073
|
0.00001
|
NM_002618.4(PEX13):c.968C>T (p.Thr323Ile)
|
rs1559047077
|
0.00001
|
NM_002618.4(PEX13):c.999T>C (p.Ile333=)
|
rs750110664
|
0.00001
|
NM_002857.4(PEX19):c.10G>T (p.Ala4Ser)
|
rs1436027867
|
0.00001
|
NM_002857.4(PEX19):c.110C>T (p.Ala37Val)
|
rs575112594
|
0.00001
|
NM_002857.4(PEX19):c.129G>A (p.Thr43=)
|
rs921113258
|
0.00001
|
NM_002857.4(PEX19):c.12T>C (p.Ala4=)
|
rs1657962000
|
0.00001
|
NM_002857.4(PEX19):c.148C>A (p.Pro50Thr)
|
rs1280706455
|
0.00001
|
NM_002857.4(PEX19):c.180+13C>A
|
rs1420876010
|
0.00001
|
NM_002857.4(PEX19):c.181G>A (p.Asp61Asn)
|
rs1364910260
|
0.00001
|
NM_002857.4(PEX19):c.198C>T (p.Ser66=)
|
rs1332354119
|
0.00001
|
NM_002857.4(PEX19):c.200A>C (p.Gln67Pro)
|
rs755726384
|
0.00001
|
NM_002857.4(PEX19):c.249C>T (p.Ala83=)
|
rs1359237654
|
0.00001
|
NM_002857.4(PEX19):c.31G>C (p.Gly11Arg)
|
rs772905234
|
0.00001
|
NM_002857.4(PEX19):c.346+1G>A
|
rs75072667
|
0.00001
|
NM_002857.4(PEX19):c.365A>G (p.Gln122Arg)
|
rs1405573106
|
0.00001
|
NM_002857.4(PEX19):c.366A>G (p.Gln122=)
|
rs930041404
|
0.00001
|
NM_002857.4(PEX19):c.367C>G (p.Gln123Glu)
|
rs1334997035
|
0.00001
|
NM_002857.4(PEX19):c.37G>C (p.Glu13Gln)
|
rs868021380
|
0.00001
|
NM_002857.4(PEX19):c.397C>T (p.Leu133=)
|
rs146321212
|
0.00001
|
NM_002857.4(PEX19):c.398dup (p.Ser134fs)
|
rs1240816309
|
0.00001
|
NM_002857.4(PEX19):c.424G>C (p.Asp142His)
|
rs778927500
|
0.00001
|
NM_002857.4(PEX19):c.433-6A>G
|
rs775148442
|
0.00001
|
NM_002857.4(PEX19):c.442A>G (p.Met148Val)
|
rs905834830
|
0.00001
|
NM_002857.4(PEX19):c.484A>C (p.Met162Leu)
|
rs1205563557
|
0.00001
|
NM_002857.4(PEX19):c.489C>T (p.Asp163=)
|
rs765686168
|
0.00001
|
NM_002857.4(PEX19):c.517C>T (p.Pro173Ser)
|
rs1298851036
|
0.00001
|
NM_002857.4(PEX19):c.526C>G (p.Gln176Glu)
|
rs1480182464
|
0.00001
|
NM_002857.4(PEX19):c.536T>G (p.Met179Arg)
|
rs1234326495
|
0.00001
|
NM_002857.4(PEX19):c.552C>T (p.Ser184=)
|
rs1399277810
|
0.00001
|
NM_002857.4(PEX19):c.57G>C (p.Glu19Asp)
|
rs1170972153
|
0.00001
|
NM_002857.4(PEX19):c.594G>C (p.Lys198Asn)
|
rs773909342
|
0.00001
|
NM_002857.4(PEX19):c.595-12C>T
|
rs907000189
|
0.00001
|
NM_002857.4(PEX19):c.595-18C>G
|
rs371272792
|
0.00001
|
NM_002857.4(PEX19):c.61C>G (p.Leu21Val)
|
rs374112351
|
0.00001
|
NM_002857.4(PEX19):c.629T>C (p.Leu210Pro)
|
rs775425209
|
0.00001
|
NM_002857.4(PEX19):c.667A>G (p.Ser223Gly)
|
rs778154365
|
0.00001
|
NM_002857.4(PEX19):c.735G>A (p.Lys245=)
|
rs749331745
|
0.00001
|
NM_002857.4(PEX19):c.76C>A (p.Leu26Ile)
|
rs146340199
|
0.00001
|
NM_002857.4(PEX19):c.772C>G (p.Leu258Val)
|
rs752093054
|
0.00001
|
NM_002857.4(PEX19):c.816+7A>G
|
rs776784191
|
0.00001
|
NM_002857.4(PEX19):c.858G>A (p.Ser286=)
|
rs754510943
|
0.00001
|
NM_002857.4(PEX19):c.867A>G (p.Pro289=)
|
rs1657686642
|
0.00001
|
NM_002857.4(PEX19):c.88G>A (p.Asp30Asn)
|
rs764990251
|
0.00001
|
NM_002857.4(PEX19):c.895_896del (p.Met299fs)
|
rs1175608825
|
0.00001
|
NM_004565.3(PEX14):c.1025G>A (p.Cys342Tyr)
|
rs774432688
|
0.00001
|
NM_004565.3(PEX14):c.1052G>A (p.Arg351Gln)
|
rs960056444
|
0.00001
|
NM_004565.3(PEX14):c.1056C>T (p.Gly352=)
|
rs372035480
|
0.00001
|
NM_004565.3(PEX14):c.1081G>A (p.Val361Met)
|
rs1041756834
|
0.00001
|
NM_004565.3(PEX14):c.1121G>A (p.Ser374Asn)
|
rs1305475145
|
0.00001
|
NM_004565.3(PEX14):c.124C>T (p.Arg42Cys)
|
rs540190684
|
0.00001
|
NM_004565.3(PEX14):c.12G>A (p.Ser4=)
|
rs1372422981
|
0.00001
|
NM_004565.3(PEX14):c.163A>C (p.Lys55Gln)
|
rs753472251
|
0.00001
|
NM_004565.3(PEX14):c.188T>C (p.Ile63Thr)
|
rs762505617
|
0.00001
|
NM_004565.3(PEX14):c.199T>C (p.Phe67Leu)
|
rs751540499
|
0.00001
|
NM_004565.3(PEX14):c.233C>T (p.Ser78Leu)
|
rs778315559
|
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.311C>T (p.Ser104Phe)
|
rs756523143
|
0.00001
|
NM_004565.3(PEX14):c.314G>A (p.Arg105Gln)
|
rs754085368
|
0.00001
|
NM_004565.3(PEX14):c.328G>A (p.Gly110Ser)
|
rs771702217
|
0.00001
|
NM_004565.3(PEX14):c.331G>A (p.Ala111Thr)
|
rs758492014
|
0.00001
|
NM_004565.3(PEX14):c.36+6G>T
|
rs369035854
|
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.382A>G (p.Lys128Glu)
|
rs756676436
|
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.41G>A (p.Ser14Asn)
|
rs1641538447
|
0.00001
|
NM_004565.3(PEX14):c.44C>G (p.Ser15Cys)
|
rs755705743
|
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.511G>A (p.Ala171Thr)
|
rs1330745700
|
0.00001
|
NM_004565.3(PEX14):c.516C>T (p.Ser172=)
|
rs543843635
|
0.00001
|
NM_004565.3(PEX14):c.531G>C (p.Leu177=)
|
rs1641685652
|
0.00001
|
NM_004565.3(PEX14):c.556G>C (p.Glu186Gln)
|
rs543130270
|
0.00001
|
NM_004565.3(PEX14):c.576C>T (p.Ala192=)
|
rs377059083
|
0.00001
|
NM_004565.3(PEX14):c.643G>A (p.Glu215Lys)
|
rs1370410030
|
0.00001
|
NM_004565.3(PEX14):c.648T>G (p.Ile216Met)
|
rs756446450
|
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.77A>G (p.Glu26Gly)
|
rs1407518602
|
0.00001
|
NM_004565.3(PEX14):c.816G>A (p.Thr272=)
|
rs572028093
|
0.00001
|
NM_004565.3(PEX14):c.896G>A (p.Gly299Asp)
|
rs140533305
|
0.00001
|
NM_004565.3(PEX14):c.900G>A (p.Glu300=)
|
rs772095912
|
0.00001
|
NM_004565.3(PEX14):c.902G>T (p.Gly301Val)
|
rs773005677
|
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.162T>C (p.Ser54=)
|
rs552583175
|
0.00001
|
NM_004813.4(PEX16):c.165C>T (p.Asn55=)
|
rs746381331
|
0.00001
|
NM_004813.4(PEX16):c.187G>A (p.Gly63Arg)
|
rs754220780
|
0.00001
|
NM_004813.4(PEX16):c.202G>A (p.Glu68Lys)
|
rs374895823
|
0.00001
|
NM_004813.4(PEX16):c.226-12G>A
|
rs770166678
|
0.00001
|
NM_004813.4(PEX16):c.227C>T (p.Ser76Leu)
|
rs139930879
|
0.00001
|
NM_004813.4(PEX16):c.28C>A (p.Arg10Ser)
|
rs2086854956
|
0.00001
|
NM_004813.4(PEX16):c.325C>T (p.Arg109Cys)
|
rs779016766
|
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.370C>T (p.Arg124Trp)
|
rs754748410
|
0.00001
|
NM_004813.4(PEX16):c.371G>A (p.Arg124Gln)
|
rs751381531
|
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.448G>T (p.Ala150Ser)
|
rs772360222
|
0.00001
|
NM_004813.4(PEX16):c.451C>T (p.Gln151Ter)
|
rs1218545995
|
0.00001
|
NM_004813.4(PEX16):c.460+20C>A
|
rs749438800
|
0.00001
|
NM_004813.4(PEX16):c.461-6del
|
rs1344841850
|
0.00001
|
NM_004813.4(PEX16):c.492G>C (p.Gln164His)
|
rs773347735
|
0.00001
|
NM_004813.4(PEX16):c.498C>T (p.Tyr166=)
|
rs918637787
|
0.00001
|
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter)
|
rs61752117
|
0.00001
|
NM_004813.4(PEX16):c.542-4C>G
|
rs755666423
|
0.00001
|
NM_004813.4(PEX16):c.545C>T (p.Pro182Leu)
|
rs755516862
|
0.00001
|
NM_004813.4(PEX16):c.583C>T (p.Arg195Trp)
|
rs557365860
|
0.00001
|
NM_004813.4(PEX16):c.610G>A (p.Glu204Lys)
|
rs368553807
|
0.00001
|
NM_004813.4(PEX16):c.612G>A (p.Glu204=)
|
rs758739455
|
0.00001
|
NM_004813.4(PEX16):c.623C>T (p.Ala208Val)
|
rs201173264
|
0.00001
|
NM_004813.4(PEX16):c.624G>A (p.Ala208=)
|
rs1198584811
|
0.00001
|
NM_004813.4(PEX16):c.629C>T (p.Pro210Leu)
|
rs565706311
|
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.679C>T (p.Arg227Trp)
|
rs1064794320
|
0.00001
|
NM_004813.4(PEX16):c.684G>A (p.Pro228=)
|
rs777904359
|
0.00001
|
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg)
|
rs753577538
|
0.00001
|
NM_004813.4(PEX16):c.711G>A (p.Leu237=)
|
rs763743599
|
0.00001
|
NM_004813.4(PEX16):c.734C>T (p.Pro245Leu)
|
rs1364730132
|
0.00001
|
NM_004813.4(PEX16):c.752T>G (p.Val251Gly)
|
rs759092071
|
0.00001
|
NM_004813.4(PEX16):c.802C>T (p.Arg268Trp)
|
rs886044625
|
0.00001
|
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln)
|
rs769838583
|
0.00001
|
NM_004813.4(PEX16):c.820C>A (p.Leu274Met)
|
rs751273439
|
0.00001
|
NM_004813.4(PEX16):c.823C>T (p.Arg275Trp)
|
rs372815115
|
0.00001
|
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)
|
rs769772100
|
0.00001
|
NM_004813.4(PEX16):c.888-18A>C
|
rs779536979
|
0.00001
|
NM_004813.4(PEX16):c.892A>G (p.Arg298Gly)
|
rs887278864
|
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.962T>C (p.Met321Thr)
|
rs758636115
|
0.00001
|
NM_004813.4(PEX16):c.996C>T (p.Phe332=)
|
rs200546977
|
0.00001
|
NM_144709.4(PUS10):c.-16+151A>G
|
rs1291662088
|
0.00001
|
NC_000001.10:g.(?_10535024)_(10535079_?)del
|
|
|
NC_000001.10:g.(?_10535024)_(10535079_?)dup
|
|
|
NC_000001.10:g.(?_10535024)_(10596374_?)del
|
|
|
NC_000001.10:g.(?_10535024)_(10596374_?)dup
|
|
|
NC_000001.10:g.(?_10535024)_(10687440_?)del
|
|
|
NC_000001.10:g.(?_10535024)_(11107264_?)dup
|
|
|
NC_000001.10:g.(?_10555311)_(10555398_?)dup
|
|
|
NC_000001.10:g.(?_10687309)_(10687440_?)del
|
|
|
NC_000001.10:g.(?_160090676)_(160327063_?)dup
|
|
|
NC_000001.10:g.(?_1724664)_(2338414_?)dup
|
|
|
NC_000001.10:g.(?_2337195)_(2340307_?)del
|
|
|
NC_000001.10:g.(?_2337205)_(2338414_?)del
|
|
|
NC_000001.10:g.(?_2337205)_(2343941_?)dup
|
|
|
NC_000001.10:g.(?_2339881)_(2340307_?)del
|
|
|
NC_000001.10:g.(?_2341800)_(2343951_?)del
|
|
|
NC_000001.10:g.(?_861322)_(3768971_?)del
|
|
|
NC_000001.11:g.(?_2405746)_(2412522_?)del
|
|
|
NC_000001.11:g.(?_2405756)_(2412512_?)del
|
|
|
NC_000002.11:g.(?_61244895)_(61275905_?)dup
|
|
|
NC_000002.11:g.(?_61258534)_(61275905_?)del
|
|
|
NC_000002.11:g.(?_61258534)_(62063264_?)dup
|
|
|
NC_000002.11:g.(?_61272841)_(61275905_?)del
|
|
|
NC_000002.11:g.(?_61272841)_(61275905_?)dup
|
|
|
NC_000006.11:g.(?_137143759)_(137143943_?)del
|
|
|
NC_000006.11:g.(?_137143759)_(137143953_?)dup
|
|
|
NC_000006.11:g.(?_137143759)_(137166840_?)del
|
|
|
NC_000006.11:g.(?_137143759)_(137167329_?)del
|
|
|
NC_000006.11:g.(?_137143759)_(137167339_?)dup
|
|
|
NC_000006.11:g.(?_137166743)_(137167329_?)del
|
|
|
NC_000006.11:g.(?_137167201)_(137234674_?)del
|
|
|
NC_000006.11:g.(?_137187755)_(137193401_?)del
|
|
|
NC_000006.11:g.(?_137187765)_(137191141_?)dup
|
|
|
NC_000006.11:g.(?_137191125)_(137199715_?)del
|
|
|
NC_000006.11:g.(?_41126341)_(43752536_?)del
|
|
|
NC_000006.11:g.(?_42928506)_(42952462_?)dup
|
|
|
NC_000006.11:g.(?_42931601)_(42937735_?)del
|
|
|
NC_000006.11:g.(?_42941721)_(42942796_?)del
|
|
|
NC_000006.11:g.(?_42942593)_(42946888_?)del
|
|
|
NC_000006.12:g.(?_136821564)_(136914934_?)dup
|
|
|
NC_000006.12:g.(?_42923027)_(42984704_?)dup
|
|
|
NC_000006.12:g.(?_42968280)_(42979253_?)del
|
|
|
NC_000006.12:g.(?_42974865)_(42975048_?)del
|
|
|
NC_000006.12:g.42965156_42965157insTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAGCTTGTCAAATCTTT
|
|
|
NC_000007.13:g.(?_92116761)_(92136450_?)del
|
|
|
NC_000007.13:g.(?_92116771)_(92151579_?)dup
|
|
|
NC_000007.13:g.(?_92135552)_(92140371_?)del
|
|
|
NC_000007.13:g.(?_92135668)_(92140738_?)del
|
|
|
NC_000007.13:g.(?_92143152)_(92143291_?)del
|
|
|
NC_000007.13:g.(?_92148299)_(92157759_?)del
|
|
|
NC_000007.14:g.(?_92487437)_(92487561_?)del
|
|
|
NC_000007.14:g.(?_92489273)_(92491522_?)del
|
|
|
NC_000007.14:g.(?_92509319)_(92509421_?)del
|
|
|
NC_000007.14:g.92528411_92528711del
|
rs2116299216
|
|
NC_000008.10:g.(?_77895497)_(77896414_?)del
|
|
|
NC_000008.10:g.(?_77895497)_(77896414_?)dup
|
|
|
NC_000011.9:g.(?_45827353)_(45932533_?)dup
|
|
|
NC_000011.9:g.(?_45827353)_(46401497_?)del
|
|
|
NC_000012.11:g.(?_6438458)_(7362839_?)dup
|
|
|
NC_000012.11:g.(?_6978008)_(9010204_?)dup
|
|
|
NC_000012.11:g.(?_7342974)_(7362819_?)dup
|
|
|
NC_000017.10:g.(?_33475283)_(34079869_?)dup
|
|
|
NC_000017.10:g.(?_33902781)_(33905060_?)dup
|
|
|
NC_000017.11:g.35577561_35577592del
|
rs2142231221
|
|
NC_000022.10:g.(?_18561143)_(18568044_?)del
|
|
|
NC_000022.10:g.(?_18561143)_(18613903_?)del
|
|
|
NC_000022.10:g.(?_18562620)_(18562800_?)dup
|
|
|
NC_000022.11:g.(?_17877577)_(18088075_?)dup
|
|
|
NM_000286.3(PEX12):c.-26G>A
|
rs727504080
|
|
NM_000286.3(PEX12):c.1006C>T (p.His336Tyr)
|
rs2142228771
|
|
NM_000286.3(PEX12):c.1008C>A (p.His336Gln)
|
rs1291823697
|
|
NM_000286.3(PEX12):c.1008C>T (p.His336=)
|
|
|
NM_000286.3(PEX12):c.1012G>A (p.Ala338Thr)
|
rs2072781374
|
|
NM_000286.3(PEX12):c.1020C>T (p.Pro340=)
|
|
|
NM_000286.3(PEX12):c.1021A>G (p.Ile341Val)
|
|
|
NM_000286.3(PEX12):c.1024A>G (p.Thr342Ala)
|
|
|
NM_000286.3(PEX12):c.1025C>T (p.Thr342Ile)
|
|
|
NM_000286.3(PEX12):c.1027G>A (p.Gly343Ser)
|
rs2142228742
|
|
NM_000286.3(PEX12):c.1032T>C (p.Tyr344=)
|
rs1352783754
|
|
NM_000286.3(PEX12):c.1038A>G (p.Thr346=)
|
|
|
NM_000286.3(PEX12):c.1039_1040del (p.Glu347fs)
|
rs2142228734
|
|
NM_000286.3(PEX12):c.103C>A (p.Pro35Thr)
|
|
|
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)
|
rs267608184
|
|
NM_000286.3(PEX12):c.1051C>T (p.Leu351=)
|
|
|
NM_000286.3(PEX12):c.105C>T (p.Pro35=)
|
|
|
NM_000286.3(PEX12):c.1060C>G (p.Leu354Val)
|
rs928085463
|
|
NM_000286.3(PEX12):c.1060C>T (p.Leu354Phe)
|
rs928085463
|
|
NM_000286.3(PEX12):c.1065C>T (p.Tyr355=)
|
|
|
NM_000286.3(PEX12):c.1067C>T (p.Ser356Phe)
|
|
|
NM_000286.3(PEX12):c.106G>C (p.Ala36Pro)
|
rs2142231624
|
|
NM_000286.3(PEX12):c.116A>G (p.His39Arg)
|
|
|
NM_000286.3(PEX12):c.116del (p.His39fs)
|
rs2142231614
|
|
NM_000286.3(PEX12):c.117T>G (p.His39Gln)
|
rs727504078
|
|
NM_000286.3(PEX12):c.122del (p.Val41fs)
|
|
|
NM_000286.3(PEX12):c.124A>C (p.Lys42Gln)
|
|
|
NM_000286.3(PEX12):c.126+17T>C
|
|
|
NM_000286.3(PEX12):c.126+18G>A
|
|
|
NM_000286.3(PEX12):c.126+1G>A
|
rs144259891
|
|
NM_000286.3(PEX12):c.126+1G>C
|
|
|
NM_000286.3(PEX12):c.126+3A>G
|
rs2072796615
|
|
NM_000286.3(PEX12):c.127-11_127-2del
|
rs779094557
|
|
NM_000286.3(PEX12):c.127-20A>T
|
|
|
NM_000286.3(PEX12):c.127-3T>A
|
rs2142231281
|
|
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.13G>A (p.Gly5Arg)
|
rs2142231778
|
|
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
|
|
|
NM_000286.3(PEX12):c.143A>T (p.Asn48Ile)
|
|
|
NM_000286.3(PEX12):c.145C>G (p.Pro49Ala)
|
rs2142231256
|
|
NM_000286.3(PEX12):c.150C>A (p.Thr50=)
|
rs2142231241
|
|
NM_000286.3(PEX12):c.151_154del (p.His51fs)
|
rs2142231234
|
|
NM_000286.3(PEX12):c.163T>C (p.Leu55=)
|
|
|
NM_000286.3(PEX12):c.16G>A (p.Ala6Thr)
|
rs1344931108
|
|
NM_000286.3(PEX12):c.174del (p.Trp58fs)
|
rs2142231201
|
|
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.200A>G (p.Asp67Gly)
|
rs2072793873
|
|
NM_000286.3(PEX12):c.203T>A (p.Leu68His)
|
rs2072793797
|
|
NM_000286.3(PEX12):c.207G>T (p.Leu69=)
|
|
|
NM_000286.3(PEX12):c.207_209del (p.Leu70del)
|
|
|
NM_000286.3(PEX12):c.20_21dup (p.Phe8fs)
|
|
|
NM_000286.3(PEX12):c.210C>G (p.Leu70=)
|
rs2142231132
|
|
NM_000286.3(PEX12):c.218A>G (p.His73Arg)
|
|
|
NM_000286.3(PEX12):c.220T>C (p.Tyr74His)
|
|
|
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)
|
rs765404768
|
|
NM_000286.3(PEX12):c.222dup (p.Leu75fs)
|
rs2142231111
|
|
NM_000286.3(PEX12):c.223C>T (p.Leu75=)
|
rs2072793560
|
|
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)
|
rs1555549876
|
|
NM_000286.3(PEX12):c.225G>A (p.Leu75=)
|
rs1353291478
|
|
NM_000286.3(PEX12):c.233C>T (p.Thr78Ile)
|
|
|
NM_000286.3(PEX12):c.238G>A (p.Ala80Thr)
|
|
|
NM_000286.3(PEX12):c.239C>T (p.Ala80Val)
|
rs2072793061
|
|
NM_000286.3(PEX12):c.244T>C (p.Phe82Leu)
|
rs2142231070
|
|
NM_000286.3(PEX12):c.255C>T (p.Asn85=)
|
|
|
NM_000286.3(PEX12):c.258T>C (p.Phe86=)
|
|
|
NM_000286.3(PEX12):c.260_261insAA (p.Tyr87Ter)
|
rs61752099
|
|
NM_000286.3(PEX12):c.268_269del (p.Lys90fs)
|
|
|
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
|
rs61752100
|
|
NM_000286.3(PEX12):c.271A>C (p.Arg91=)
|
rs2072792820
|
|
NM_000286.3(PEX12):c.272G>C (p.Arg91Thr)
|
rs2142231028
|
|
NM_000286.3(PEX12):c.273A>G (p.Arg91=)
|
|
|
NM_000286.3(PEX12):c.27A>G (p.Thr9=)
|
|
|
NM_000286.3(PEX12):c.286del (p.Asp96fs)
|
|
|
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.29C>T (p.Ala10Val)
|
|
|
NM_000286.3(PEX12):c.302A>G (p.Gln101Arg)
|
|
|
NM_000286.3(PEX12):c.305G>C (p.Arg102Thr)
|
rs2072792418
|
|
NM_000286.3(PEX12):c.305_306del (p.Arg102fs)
|
rs2142230957
|
|
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.334C>T (p.Gln112Ter)
|
rs776731688
|
|
NM_000286.3(PEX12):c.33T>C (p.Ala11=)
|
|
|
NM_000286.3(PEX12):c.342G>A (p.Trp114Ter)
|
rs2142230890
|
|
NM_000286.3(PEX12):c.348T>C (p.Ser116=)
|
rs2142230874
|
|
NM_000286.3(PEX12):c.348dup (p.Ile117fs)
|
|
|
NM_000286.3(PEX12):c.349A>C (p.Ile117Leu)
|
|
|
NM_000286.3(PEX12):c.351T>C (p.Ile117=)
|
rs2142230866
|
|
NM_000286.3(PEX12):c.353T>C (p.Met118Thr)
|
rs879075660
|
|
NM_000286.3(PEX12):c.354G>A (p.Met118Ile)
|
rs1025113717
|
|
NM_000286.3(PEX12):c.360G>C (p.Leu120=)
|
rs772417571
|
|
NM_000286.3(PEX12):c.361G>T (p.Val121Phe)
|
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
NM_000286.3(PEX12):c.372C>G (p.Pro124=)
|
|
|
NM_000286.3(PEX12):c.373T>C (p.Tyr125His)
|
rs2142230828
|
|
NM_000286.3(PEX12):c.374A>T (p.Tyr125Phe)
|
|
|
NM_000286.3(PEX12):c.375T>C (p.Tyr125=)
|
rs1451972501
|
|
NM_000286.3(PEX12):c.379A>T (p.Lys127Ter)
|
|
|
NM_000286.3(PEX12):c.382G>A (p.Val128Met)
|
rs2142230817
|
|
NM_000286.3(PEX12):c.391G>A (p.Glu131Lys)
|
rs768259519
|
|
NM_000286.3(PEX12):c.391_408dup (p.Glu131_Ser136dup)
|
rs2142230787
|
|
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del)
|
rs1458853023
|
|
NM_000286.3(PEX12):c.396G>A (p.Lys132=)
|
rs2142230806
|
|
NM_000286.3(PEX12):c.398T>C (p.Leu133Pro)
|
|
|
NM_000286.3(PEX12):c.399G>T (p.Leu133=)
|
|
|
NM_000286.3(PEX12):c.408C>T (p.Ser136=)
|
rs1198655195
|
|
NM_000286.3(PEX12):c.413G>T (p.Arg138Ile)
|
rs1269271203
|
|
NM_000286.3(PEX12):c.414A>G (p.Arg138=)
|
|
|
NM_000286.3(PEX12):c.415G>A (p.Glu139Lys)
|
|
|
NM_000286.3(PEX12):c.424G>A (p.Glu142Lys)
|
rs2142230751
|
|
NM_000286.3(PEX12):c.428A>G (p.Tyr143Cys)
|
|
|
NM_000286.3(PEX12):c.42C>G (p.Ala14=)
|
rs1397167479
|
|
NM_000286.3(PEX12):c.437A>G (p.His146Arg)
|
|
|
NM_000286.3(PEX12):c.43G>A (p.Asp15Asn)
|
rs200048804
|
|
NM_000286.3(PEX12):c.44A>C (p.Asp15Ala)
|
|
|
NM_000286.3(PEX12):c.455G>A (p.Trp152Ter)
|
|
|
NM_000286.3(PEX12):c.459del (p.Lys153fs)
|
|
|
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)
|
rs1555549855
|
|
NM_000286.3(PEX12):c.461G>A (p.Arg154Gln)
|
rs564816937
|
|
NM_000286.3(PEX12):c.462A>G (p.Arg154=)
|
|
|
NM_000286.3(PEX12):c.471del (p.Ala158fs)
|
rs2142230667
|
|
NM_000286.3(PEX12):c.474T>C (p.Ala158=)
|
rs2072790859
|
|
NM_000286.3(PEX12):c.483A>G (p.Ala161=)
|
|
|
NM_000286.3(PEX12):c.485C>G (p.Ala162Gly)
|
rs2142230649
|
|
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.4del (p.Ala2fs)
|
|
|
NM_000286.3(PEX12):c.505G>A (p.Ala169Thr)
|
rs2142230618
|
|
NM_000286.3(PEX12):c.511del (p.Glu171fs)
|
rs945104524
|
|
NM_000286.3(PEX12):c.514G>A (p.Gly172Arg)
|
rs202025715
|
|
NM_000286.3(PEX12):c.518G>A (p.Trp173Ter)
|
rs923109489
|
|
NM_000286.3(PEX12):c.51G>A (p.Gln17=)
|
rs561976188
|
|
NM_000286.3(PEX12):c.51G>C (p.Gln17His)
|
|
|
NM_000286.3(PEX12):c.51_54del (p.Gln17fs)
|
rs886041458
|
|
NM_000286.3(PEX12):c.524T>G (p.Leu175Arg)
|
|
|
NM_000286.3(PEX12):c.531A>G (p.Gln177=)
|
|
|
NM_000286.3(PEX12):c.535C>T (p.Leu179Phe)
|
|
|
NM_000286.3(PEX12):c.538C>G (p.Arg180Gly)
|
rs61752103
|
|
NM_000286.3(PEX12):c.541T>C (p.Tyr181His)
|
|
|
NM_000286.3(PEX12):c.541dup (p.Tyr181fs)
|
|
|
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
|
|
|
NM_000286.3(PEX12):c.544A>C (p.Ile182Leu)
|
|
|
NM_000286.3(PEX12):c.546C>G (p.Ile182Met)
|
|
|
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.565C>T (p.His189Tyr)
|
rs1336163775
|
|
NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)
|
|
|
NM_000286.3(PEX12):c.573A>G (p.Pro191=)
|
|
|
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
|
|
|
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.586G>C (p.Ala196Pro)
|
|
|
NM_000286.3(PEX12):c.599T>C (p.Leu200Pro)
|
|
|
NM_000286.3(PEX12):c.60C>T (p.Ile20=)
|
rs2142231683
|
|
NM_000286.3(PEX12):c.611_612del (p.Thr204fs)
|
|
|
NM_000286.3(PEX12):c.624A>T (p.Ile208=)
|
|
|
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)
|
rs61752106
|
|
NM_000286.3(PEX12):c.62_63del (p.Ile20_Phe21insTer)
|
rs2072797369
|
|
NM_000286.3(PEX12):c.633G>A (p.Leu211=)
|
|
|
NM_000286.3(PEX12):c.635A>G (p.Glu212Gly)
|
|
|
NM_000286.3(PEX12):c.641A>G (p.Lys214Arg)
|
|
|
NM_000286.3(PEX12):c.644del (p.Pro215fs)
|
rs1199283977
|
|
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.669del (p.Gln223fs)
|
|
|
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+3A>G
|
|
|
NM_000286.3(PEX12):c.680+8C>T
|
|
|
NM_000286.3(PEX12):c.680G>A (p.Ser227Asn)
|
rs1428801230
|
|
NM_000286.3(PEX12):c.680_680+12del
|
|
|
NM_000286.3(PEX12):c.680_680+1delinsCA
|
rs2142230388
|
|
NM_000286.3(PEX12):c.681-15_681-13del
|
|
|
NM_000286.3(PEX12):c.681-21_681-19del
|
rs2142229430
|
|
NM_000286.3(PEX12):c.681-3_681-2del
|
rs138568975
|
|
NM_000286.3(PEX12):c.681-5A>C
|
|
|
NM_000286.3(PEX12):c.684T>C (p.Val228=)
|
|
|
NM_000286.3(PEX12):c.684_687del (p.Ser229fs)
|
rs62642859
|
|
NM_000286.3(PEX12):c.693G>A (p.Lys231=)
|
|
|
NM_000286.3(PEX12):c.698dup (p.Asn233fs)
|
|
|
NM_000286.3(PEX12):c.699C>T (p.Asn233=)
|
rs2142229355
|
|
NM_000286.3(PEX12):c.69G>A (p.Val23=)
|
|
|
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)
|
rs1238451790
|
|
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.725del (p.Gly242fs)
|
|
|
NM_000286.3(PEX12):c.727G>A (p.Val243Ile)
|
|
|
NM_000286.3(PEX12):c.727G>T (p.Val243Phe)
|
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000286.3(PEX12):c.739C>G (p.Leu247Val)
|
rs1030736075
|
|
NM_000286.3(PEX12):c.740T>C (p.Leu247Pro)
|
|
|
NM_000286.3(PEX12):c.744T>C (p.Ser248=)
|
|
|
NM_000286.3(PEX12):c.760G>A (p.Gly254Ser)
|
|
|
NM_000286.3(PEX12):c.761G>C (p.Gly254Ala)
|
rs2072783485
|
|
NM_000286.3(PEX12):c.765A>G (p.Val255=)
|
rs1438298273
|
|
NM_000286.3(PEX12):c.768CTT[1] (p.Phe257del)
|
rs1567729860
|
|
NM_000286.3(PEX12):c.76C>T (p.Gln26Ter)
|
|
|
NM_000286.3(PEX12):c.771del (p.Leu258fs)
|
rs1555549754
|
|
NM_000286.3(PEX12):c.775C>T (p.Gln259Ter)
|
|
|
NM_000286.3(PEX12):c.777G>A (p.Gln259=)
|
rs1317256470
|
|
NM_000286.3(PEX12):c.781C>T (p.Leu261Phe)
|
|
|
NM_000286.3(PEX12):c.781del (p.Asp262fs)
|
rs754193088
|
|
NM_000286.3(PEX12):c.783T>C (p.Leu261=)
|
rs1192515379
|
|
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)
|
rs747099919
|
|
NM_000286.3(PEX12):c.795C>G (p.Tyr265Ter)
|
rs1429126106
|
|
NM_000286.3(PEX12):c.795C>T (p.Tyr265=)
|
rs1429126106
|
|
NM_000286.3(PEX12):c.799T>C (p.Ser267Pro)
|
rs2142229155
|
|
NM_000286.3(PEX12):c.804A>G (p.Glu268=)
|
|
|
NM_000286.3(PEX12):c.808del (p.Gln270fs)
|
|
|
NM_000286.3(PEX12):c.816C>G (p.Thr272=)
|
|
|
NM_000286.3(PEX12):c.816dup (p.Ile273fs)
|
|
|
NM_000286.3(PEX12):c.819C>T (p.Ile273=)
|
|
|
NM_000286.3(PEX12):c.822G>C (p.Lys274Asn)
|
|
|
NM_000286.3(PEX12):c.827T>C (p.Leu276Ser)
|
|
|
NM_000286.3(PEX12):c.829_832del (p.Thr277fs)
|
|
|
NM_000286.3(PEX12):c.83G>A (p.Ser28Asn)
|
|
|
NM_000286.3(PEX12):c.842del (p.Thr281fs)
|
rs2072782816
|
|
NM_000286.3(PEX12):c.844C>G (p.Pro282Ala)
|
|
|
NM_000286.3(PEX12):c.846A>G (p.Pro282=)
|
|
|
NM_000286.3(PEX12):c.849A>G (p.Pro283=)
|
rs1597922401
|
|
NM_000286.3(PEX12):c.857T>C (p.Val286Ala)
|
|
|
NM_000286.3(PEX12):c.860A>T (p.His287Leu)
|
rs2142229061
|
|
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.86del (p.Ser28_Leu29insTer)
|
|
|
NM_000286.3(PEX12):c.872A>C (p.Asn291Thr)
|
|
|
NM_000286.3(PEX12):c.875_876del (p.Asn291_Ser292insTer)
|
|
|
NM_000286.3(PEX12):c.877G>A (p.Asp293Asn)
|
rs2142229035
|
|
NM_000286.3(PEX12):c.885C>T (p.Pro295=)
|
rs2142229017
|
|
NM_000286.3(PEX12):c.886C>G (p.Leu296Val)
|
|
|
NM_000286.3(PEX12):c.886C>T (p.Leu296Phe)
|
|
|
NM_000286.3(PEX12):c.887del (p.Leu296fs)
|
|
|
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.888_889del (p.Leu297fs)
|
rs398123301
|
|
NM_000286.3(PEX12):c.889T>G (p.Leu297Val)
|
|
|
NM_000286.3(PEX12):c.890T>G (p.Leu297Ter)
|
|
|
NM_000286.3(PEX12):c.892C>T (p.Pro298Ser)
|
rs2072782397
|
|
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer)
|
rs398123302
|
|
NM_000286.3(PEX12):c.895A>T (p.Lys299Ter)
|
rs2142228982
|
|
NM_000286.3(PEX12):c.906T>C (p.Thr302=)
|
rs371277434
|
|
NM_000286.3(PEX12):c.908T>C (p.Val303Ala)
|
rs2142228949
|
|
NM_000286.3(PEX12):c.910_911del (p.Cys304fs)
|
rs867245161
|
|
NM_000286.3(PEX12):c.912C>T (p.Cys304=)
|
rs772194164
|
|
NM_000286.3(PEX12):c.913C>T (p.Pro305Ser)
|
rs1444133628
|
|
NM_000286.3(PEX12):c.915A>C (p.Pro305=)
|
|
|
NM_000286.3(PEX12):c.920_921del (p.Cys307fs)
|
rs2142228928
|
|
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>A (p.Asn313Lys)
|
|
|
NM_000286.3(PEX12):c.939T>C (p.Asn313=)
|
|
|
NM_000286.3(PEX12):c.93A>C (p.Thr31=)
|
rs141198490
|
|
NM_000286.3(PEX12):c.944C>A (p.Thr315Asn)
|
rs2142228884
|
|
NM_000286.3(PEX12):c.945T>A (p.Thr315=)
|
|
|
NM_000286.3(PEX12):c.947T>G (p.Val316Gly)
|
|
|
NM_000286.3(PEX12):c.94G>A (p.Ala32Thr)
|
rs2142231638
|
|
NM_000286.3(PEX12):c.957C>G (p.Thr319=)
|
|
|
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)
|
rs28936697
|
|
NM_000286.3(PEX12):c.961_964del (p.Gly321fs)
|
rs749650201
|
|
NM_000286.3(PEX12):c.963C>G (p.Gly321=)
|
|
|
NM_000286.3(PEX12):c.966T>C (p.Tyr322=)
|
|
|
NM_000286.3(PEX12):c.967G>C (p.Val323Leu)
|
rs2142228853
|
|
NM_000286.3(PEX12):c.969G>A (p.Val323=)
|
rs2142228848
|
|
NM_000286.3(PEX12):c.969_970del (p.Phe324fs)
|
rs2072781707
|
|
NM_000286.3(PEX12):c.972T>C (p.Phe324=)
|
|
|
NM_000286.3(PEX12):c.978C>T (p.Tyr326=)
|
|
|
NM_000286.3(PEX12):c.979C>T (p.Arg327Cys)
|
|
|
NM_000286.3(PEX12):c.980G>A (p.Arg327His)
|
|
|
NM_000286.3(PEX12):c.987G>A (p.Val329=)
|
|
|
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)
|
rs764657253
|
|
NM_000286.3(PEX12):c.9G>A (p.Glu3=)
|
rs2072797963
|
|
NM_000286.3(PEX12):c.9G>C (p.Glu3Asp)
|
rs2072797963
|
|
NM_000287.4(PEX6):c.*438TAAA[1]
|
rs144286892
|
|
NM_000287.4(PEX6):c.100C>T (p.Leu34=)
|
rs2150240766
|
|
NM_000287.4(PEX6):c.1010A>T (p.Tyr337Phe)
|
|
|
NM_000287.4(PEX6):c.1011T>C (p.Tyr337=)
|
|
|
NM_000287.4(PEX6):c.1012G>A (p.Asp338Asn)
|
rs2150236006
|
|
NM_000287.4(PEX6):c.1013A>G (p.Asp338Gly)
|
|
|
NM_000287.4(PEX6):c.1015G>A (p.Gly339Ser)
|
|
|
NM_000287.4(PEX6):c.1017T>C (p.Gly339=)
|
rs2150235982
|
|
NM_000287.4(PEX6):c.1018G>A (p.Val340Ile)
|
|
|
NM_000287.4(PEX6):c.1027del (p.Arg343fs)
|
rs1388178333
|
|
NM_000287.4(PEX6):c.1029G>A (p.Arg343=)
|
|
|
NM_000287.4(PEX6):c.1036C>A (p.Gln346Lys)
|
|
|
NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)
|
|
|
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+1G>T
|
|
|
NM_000287.4(PEX6):c.1046+20A>T
|
|
|
NM_000287.4(PEX6):c.1046+3_1046+5dup
|
|
|
NM_000287.4(PEX6):c.1046+3_1046+7dup
|
|
|
NM_000287.4(PEX6):c.1047-17C>T
|
|
|
NM_000287.4(PEX6):c.1047-3C>T
|
rs2150235001
|
|
NM_000287.4(PEX6):c.1047-4G>A
|
|
|
NM_000287.4(PEX6):c.1047-7G>A
|
rs768222448
|
|
NM_000287.4(PEX6):c.104_109dup (p.Leu36_Val37insGlyLeu)
|
|
|
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.1054C>T (p.Gln352Ter)
|
rs267608212
|
|
NM_000287.4(PEX6):c.105C>T (p.Gly35=)
|
|
|
NM_000287.4(PEX6):c.1062G>A (p.Gly354=)
|
rs2150234981
|
|
NM_000287.4(PEX6):c.1072del (p.Cys358fs)
|
|
|
NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter)
|
rs1478799269
|
|
NM_000287.4(PEX6):c.1074T>C (p.Cys358=)
|
|
|
NM_000287.4(PEX6):c.1075G>C (p.Val359Leu)
|
rs2150234968
|
|
NM_000287.4(PEX6):c.1080A>T (p.Pro360=)
|
rs2150234963
|
|
NM_000287.4(PEX6):c.1091A>G (p.Gln364Arg)
|
rs1282588166
|
|
NM_000287.4(PEX6):c.1092A>G (p.Gln364=)
|
rs1241222298
|
|
NM_000287.4(PEX6):c.1098_1099del (p.Glu366fs)
|
rs1189098622
|
|
NM_000287.4(PEX6):c.10_216delinsCCACCCGGGGGCCCGTGGCCGGCGGCGGAGCTGGGCCTGGTGCTGGCCCTGAGGC (p.Ala4fs)
|
rs2150240574
|
|
NM_000287.4(PEX6):c.1109_1112del (p.Gly370fs)
|
rs2150234919
|
|
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+1G>A
|
rs267608213
|
|
NM_000287.4(PEX6):c.1130+1G>T
|
rs267608213
|
|
NM_000287.4(PEX6):c.1130+6C>T
|
rs2150234879
|
|
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.1131-3C>A
|
|
|
NM_000287.4(PEX6):c.1131-8T>C
|
|
|
NM_000287.4(PEX6):c.1131-9T>C
|
rs1770006982
|
|
NM_000287.4(PEX6):c.1131G>A (p.Arg377=)
|
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
NM_000287.4(PEX6):c.1135C>T (p.Arg379Trp)
|
|
|
NM_000287.4(PEX6):c.1136G>A (p.Arg379Gln)
|
|
|
NM_000287.4(PEX6):c.1137G>A (p.Arg379=)
|
rs766574538
|
|
NM_000287.4(PEX6):c.1138G>A (p.Glu380Lys)
|
|
|
NM_000287.4(PEX6):c.1138dup (p.Glu380fs)
|
rs2114248372
|
|
NM_000287.4(PEX6):c.1149_1150insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGGAAATGTTTTTT (p.Lys384delinsPhePhePhePhePhePheXaaXaaXaaXaaProProProSerArgThrGlyArgLeuAlaArgArgGlyGlyGlyTer)
|
|
|
NM_000287.4(PEX6):c.1152_1154del (p.Val385del)
|
rs1770004572
|
|
NM_000287.4(PEX6):c.1155G>A (p.Val385=)
|
|
|
NM_000287.4(PEX6):c.1155G>T (p.Val385=)
|
|
|
NM_000287.4(PEX6):c.1156A>T (p.Lys386Ter)
|
rs2114248288
|
|
NM_000287.4(PEX6):c.1158G>A (p.Lys386=)
|
|
|
NM_000287.4(PEX6):c.115G>A (p.Ala39Thr)
|
|
|
NM_000287.4(PEX6):c.1166T>C (p.Val389Ala)
|
rs1043201555
|
|
NM_000287.4(PEX6):c.1167T>C (p.Val389=)
|
|
|
NM_000287.4(PEX6):c.1173A>G (p.Glu391=)
|
|
|
NM_000287.4(PEX6):c.1178C>T (p.Pro393Leu)
|
|
|
NM_000287.4(PEX6):c.1179A>G (p.Pro393=)
|
rs2114248207
|
|
NM_000287.4(PEX6):c.1181A>G (p.Asp394Gly)
|
|
|
NM_000287.4(PEX6):c.1183G>C (p.Gly395Arg)
|
|
|
NM_000287.4(PEX6):c.1186C>T (p.Pro396Ser)
|
rs1239197537
|
|
NM_000287.4(PEX6):c.1187C>T (p.Pro396Leu)
|
|
|
NM_000287.4(PEX6):c.1194T>C (p.Ser398=)
|
rs762820334
|
|
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)
|
rs886044436
|
|
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.1216dup (p.His406fs)
|
rs2114248084
|
|
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.1226T>C (p.Leu409Ser)
|
rs1355523119
|
|
NM_000287.4(PEX6):c.1230C>T (p.Tyr410=)
|
rs1390461246
|
|
NM_000287.4(PEX6):c.1232T>C (p.Met411Thr)
|
rs566310924
|
|
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.1234-2A>G
|
rs2114247797
|
|
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.1234G>A (p.Val412Met)
|
|
|
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.1255G>C (p.Val419Leu)
|
rs773054165
|
|
NM_000287.4(PEX6):c.125C>T (p.Pro42Leu)
|
rs960906617
|
|
NM_000287.4(PEX6):c.1263G>A (p.Trp421Ter)
|
|
|
NM_000287.4(PEX6):c.1264C>T (p.Leu422Phe)
|
|
|
NM_000287.4(PEX6):c.1266C>T (p.Leu422=)
|
rs1260688458
|
|
NM_000287.4(PEX6):c.1276G>T (p.Glu426Ter)
|
|
|
NM_000287.4(PEX6):c.127G>T (p.Ala43Ser)
|
rs1770442809
|
|
NM_000287.4(PEX6):c.1287C>G (p.Leu429=)
|
rs2114247608
|
|
NM_000287.4(PEX6):c.1297T>C (p.Leu433=)
|
|
|
NM_000287.4(PEX6):c.1299G>T (p.Leu433Phe)
|
|
|
NM_000287.4(PEX6):c.129A>G (p.Ala43=)
|
|
|
NM_000287.4(PEX6):c.129A>T (p.Ala43=)
|
rs1445718475
|
|
NM_000287.4(PEX6):c.1301C>T (p.Ser434Phe)
|
|
|
NM_000287.4(PEX6):c.1302T>C (p.Ser434=)
|
|
|
NM_000287.4(PEX6):c.1305T>C (p.Pro435=)
|
rs2114247560
|
|
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)
|
rs771063294
|
|
NM_000287.4(PEX6):c.1311C>T (p.Gly437=)
|
rs748214049
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000287.4(PEX6):c.1320C>T (p.Ala440=)
|
rs2114247492
|
|
NM_000287.4(PEX6):c.1326dup (p.Ser443fs)
|
rs2114247458
|
|
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.1338_1339del (p.Ala447fs)
|
rs398123303
|
|
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.1350_1351delinsAA (p.Pro451Thr)
|
|
|
NM_000287.4(PEX6):c.1352del (p.Pro451fs)
|
|
|
NM_000287.4(PEX6):c.1354C>G (p.Arg452Gly)
|
|
|
NM_000287.4(PEX6):c.1357C>T (p.Leu453Phe)
|
rs1769988827
|
|
NM_000287.4(PEX6):c.1357del (p.Leu453fs)
|
rs2114247385
|
|
NM_000287.4(PEX6):c.135G>A (p.Glu45=)
|
rs2150240712
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
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+1G>A
|
rs1769988075
|
|
NM_000287.4(PEX6):c.1367+2T>C
|
|
|
NM_000287.4(PEX6):c.1367+6T>C
|
rs2114247326
|
|
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.1368-2del
|
rs1554127415
|
|
NM_000287.4(PEX6):c.1368G>A (p.Gly456=)
|
rs763725671
|
|
NM_000287.4(PEX6):c.1370G>A (p.Gly457Asp)
|
|
|
NM_000287.4(PEX6):c.1373C>A (p.Ala458Asp)
|
|
|
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.137G>C (p.Ser46Thr)
|
|
|
NM_000287.4(PEX6):c.1382C>G (p.Thr461Arg)
|
rs2114246115
|
|
NM_000287.4(PEX6):c.1383A>G (p.Thr461=)
|
|
|
NM_000287.4(PEX6):c.1386A>G (p.Gly462=)
|
rs2114246091
|
|
NM_000287.4(PEX6):c.1388C>T (p.Thr463Ile)
|
|
|
NM_000287.4(PEX6):c.1389T>A (p.Thr463=)
|
rs2114246068
|
|
NM_000287.4(PEX6):c.1394G>C (p.Ser465Thr)
|
rs2114246040
|
|
NM_000287.4(PEX6):c.1396G>A (p.Val466Ile)
|
|
|
NM_000287.4(PEX6):c.1399C>T (p.Leu467Phe)
|
rs2114246028
|
|
NM_000287.4(PEX6):c.1401T>A (p.Leu467=)
|
|
|
NM_000287.4(PEX6):c.1401_1403del (p.Leu468del)
|
rs1222318292
|
|
NM_000287.4(PEX6):c.1404A>G (p.Leu468=)
|
|
|
NM_000287.4(PEX6):c.1404del (p.Arg469fs)
|
rs267608218
|
|
NM_000287.4(PEX6):c.1406_1474del (p.Arg469_Leu491del)
|
|
|
NM_000287.4(PEX6):c.1407G>A (p.Arg469=)
|
|
|
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala)
|
rs1561823098
|
|
NM_000287.4(PEX6):c.140C>A (p.Pro47Gln)
|
rs1299683224
|
|
NM_000287.4(PEX6):c.1410C>A (p.Gly470=)
|
|
|
NM_000287.4(PEX6):c.1413C>T (p.Pro471=)
|
|
|
NM_000287.4(PEX6):c.1415del (p.Pro472fs)
|
rs267608219
|
|
NM_000287.4(PEX6):c.1415dup (p.Gly473fs)
|
|
|
NM_000287.4(PEX6):c.141G>A (p.Pro47=)
|
rs1464923917
|
|
NM_000287.4(PEX6):c.1428G>A (p.Lys476=)
|
|
|
NM_000287.4(PEX6):c.1429A>G (p.Thr477Ala)
|
rs2114245927
|
|
NM_000287.4(PEX6):c.1438G>A (p.Val480Ile)
|
rs2114245909
|
|
NM_000287.4(PEX6):c.1440T>C (p.Val480=)
|
|
|
NM_000287.4(PEX6):c.1449C>A (p.Ala483=)
|
|
|
NM_000287.4(PEX6):c.1456C>T (p.His486Tyr)
|
rs1320010518
|
|
NM_000287.4(PEX6):c.1458C>T (p.His486=)
|
|
|
NM_000287.4(PEX6):c.1463G>A (p.Gly488Glu)
|
|
|
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.1478A>T (p.Lys493Met)
|
|
|
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+1G>A
|
|
|
NM_000287.4(PEX6):c.1479+2del
|
rs1554127383
|
|
NM_000287.4(PEX6):c.1479+4A>T
|
rs2114245810
|
|
NM_000287.4(PEX6):c.1479+6_1479+9del
|
|
|
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.1483C>T (p.Pro495Ser)
|
|
|
NM_000287.4(PEX6):c.1489T>C (p.Ser497Pro)
|
rs2114245129
|
|
NM_000287.4(PEX6):c.1497C>T (p.Leu499=)
|
|
|
NM_000287.4(PEX6):c.1504G>T (p.Glu502Ter)
|
|
|
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.1519G>A (p.Val507Met)
|
|
|
NM_000287.4(PEX6):c.1519G>C (p.Val507Leu)
|
rs1355702643
|
|
NM_000287.4(PEX6):c.1521G>A (p.Val507=)
|
|
|
NM_000287.4(PEX6):c.1522del (p.Glu508fs)
|
rs754684285
|
|
NM_000287.4(PEX6):c.1524G>A (p.Glu508=)
|
|
|
NM_000287.4(PEX6):c.152C>T (p.Ala51Val)
|
|
|
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.1544T>A (p.Phe515Tyr)
|
rs778534336
|
|
NM_000287.4(PEX6):c.1544T>C (p.Phe515Ser)
|
|
|
NM_000287.4(PEX6):c.1547C>G (p.Ser516Cys)
|
|
|
NM_000287.4(PEX6):c.1548C>T (p.Ser516=)
|
rs2114244957
|
|
NM_000287.4(PEX6):c.1549C>A (p.Arg517=)
|
rs754790139
|
|
NM_000287.4(PEX6):c.154C>G (p.Leu52Val)
|
rs2150240677
|
|
NM_000287.4(PEX6):c.1550G>C (p.Arg517Pro)
|
rs371782808
|
|
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.1556G>T (p.Arg519Leu)
|
|
|
NM_000287.4(PEX6):c.1557C>T (p.Arg519=)
|
|
|
NM_000287.4(PEX6):c.1559G>A (p.Arg520His)
|
|
|
NM_000287.4(PEX6):c.1559G>T (p.Arg520Leu)
|
|
|
NM_000287.4(PEX6):c.1564C>T (p.Arg522Trp)
|
|
|
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)
|
rs374396138
|
|
NM_000287.4(PEX6):c.1565G>C (p.Arg522Pro)
|
|
|
NM_000287.4(PEX6):c.1566G>C (p.Arg522=)
|
|
|
NM_000287.4(PEX6):c.1566G>T (p.Arg522=)
|
rs950336722
|
|
NM_000287.4(PEX6):c.1570G>A (p.Ala524Thr)
|
|
|
NM_000287.4(PEX6):c.1573dup (p.Val525fs)
|
rs2114244815
|
|
NM_000287.4(PEX6):c.1586C>T (p.Thr529Ile)
|
rs771639281
|
|
NM_000287.4(PEX6):c.1586_1587dup (p.Ala530fs)
|
|
|
NM_000287.4(PEX6):c.1587A>G (p.Thr529=)
|
|
|
NM_000287.4(PEX6):c.1588G>T (p.Ala530Ser)
|
|
|
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.1611C>G (p.Asp537Glu)
|
rs2114244744
|
|
NM_000287.4(PEX6):c.1618G>A (p.Gly540Arg)
|
|
|
NM_000287.4(PEX6):c.161T>G (p.Val54Gly)
|
rs2150240668
|
|
NM_000287.4(PEX6):c.1620G>A (p.Gly540=)
|
rs2114244710
|
|
NM_000287.4(PEX6):c.1624G>A (p.Gly542Ser)
|
rs1769923693
|
|
NM_000287.4(PEX6):c.1627G>A (p.Glu543Lys)
|
rs143549190
|
|
NM_000287.4(PEX6):c.1629G>C (p.Glu543Asp)
|
|
|
NM_000287.4(PEX6):c.1630G>A (p.Asp544Asn)
|
rs2114244681
|
|
NM_000287.4(PEX6):c.1632T>C (p.Asp544=)
|
|
|
NM_000287.4(PEX6):c.1634C>T (p.Ala545Val)
|
rs2114244672
|
|
NM_000287.4(PEX6):c.1638T>C (p.Arg546=)
|
rs1769922737
|
|
NM_000287.4(PEX6):c.1638T>G (p.Arg546=)
|
|
|
NM_000287.4(PEX6):c.1639G>A (p.Val547Met)
|
|
|
NM_000287.4(PEX6):c.1642A>G (p.Met548Val)
|
|
|
NM_000287.4(PEX6):c.1644G>C (p.Met548Ile)
|
|
|
NM_000287.4(PEX6):c.1655G>A (p.Arg552His)
|
|
|
NM_000287.4(PEX6):c.1665C>T (p.Leu555=)
|
rs777182627
|
|
NM_000287.4(PEX6):c.1668C>A (p.Leu556=)
|
|
|
NM_000287.4(PEX6):c.1672G>A (p.Glu558Lys)
|
|
|
NM_000287.4(PEX6):c.1674G>A (p.Glu558=)
|
|
|
NM_000287.4(PEX6):c.1677C>T (p.Asp559=)
|
|
|
NM_000287.4(PEX6):c.1681C>T (p.Leu561Phe)
|
|
|
NM_000287.4(PEX6):c.1681del (p.Leu561fs)
|
rs1200299979
|
|
NM_000287.4(PEX6):c.1683C>T (p.Leu561=)
|
|
|
NM_000287.4(PEX6):c.1685A>G (p.Asn562Ser)
|
|
|
NM_000287.4(PEX6):c.1686C>T (p.Asn562=)
|
|
|
NM_000287.4(PEX6):c.1688+11A>T
|
|
|
NM_000287.4(PEX6):c.1688+1G>A
|
rs112298166
|
|
NM_000287.4(PEX6):c.1688+1G>T
|
rs112298166
|
|
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.1689-1G>A
|
rs267608223
|
|
NM_000287.4(PEX6):c.1689-20G>A
|
|
|
NM_000287.4(PEX6):c.1689-3C>T
|
rs769573987
|
|
NM_000287.4(PEX6):c.1689-8G>T
|
rs2114242954
|
|
NM_000287.4(PEX6):c.1690_1693dup (p.Pro565fs)
|
rs2114242907
|
|
NM_000287.4(PEX6):c.1691del (p.Cys564fs)
|
rs2114242920
|
|
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.1699C>A (p.Leu567Ile)
|
|
|
NM_000287.4(PEX6):c.16T>C (p.Leu6=)
|
|
|
NM_000287.4(PEX6):c.1702A>T (p.Met568Leu)
|
rs2114242869
|
|
NM_000287.4(PEX6):c.1706T>C (p.Val569Ala)
|
|
|
NM_000287.4(PEX6):c.1708G>A (p.Val570Met)
|
rs2114242847
|
|
NM_000287.4(PEX6):c.1709T>C (p.Val570Ala)
|
|
|
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)
|
rs61753224
|
|
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.1723C>T (p.Arg575Trp)
|
rs755211783
|
|
NM_000287.4(PEX6):c.1724G>A (p.Arg575Gln)
|
rs754034834
|
|
NM_000287.4(PEX6):c.1724G>T (p.Arg575Leu)
|
|
|
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.1741G>A (p.Ala581Thr)
|
rs1316254924
|
|
NM_000287.4(PEX6):c.1743T>C (p.Ala581=)
|
|
|
NM_000287.4(PEX6):c.174G>A (p.Glu58=)
|
rs2150240649
|
|
NM_000287.4(PEX6):c.1750C>T (p.Gln584Ter)
|
|
|
NM_000287.4(PEX6):c.1756G>A (p.Ala586Thr)
|
rs1309200431
|
|
NM_000287.4(PEX6):c.1756_1757delinsAA (p.Ala586Lys)
|
|
|
NM_000287.4(PEX6):c.1765C>T (p.His589Tyr)
|
rs2114242678
|
|
NM_000287.4(PEX6):c.1771C>T (p.Leu591Phe)
|
rs2114242669
|
|
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.1774G>T (p.Glu592Ter)
|
rs375288192
|
|
NM_000287.4(PEX6):c.1782_1807dup (p.Ser603fs)
|
rs2114242538
|
|
NM_000287.4(PEX6):c.1783G>A (p.Ala595Thr)
|
|
|
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.1789T>C (p.Ser597Pro)
|
|
|
NM_000287.4(PEX6):c.1790C>G (p.Ser597Ter)
|
|
|
NM_000287.4(PEX6):c.179C>T (p.Pro60Leu)
|
|
|
NM_000287.4(PEX6):c.1805del (p.Leu602fs)
|
rs2114242547
|
|
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.1816C>T (p.Arg606Trp)
|
|
|
NM_000287.4(PEX6):c.1818G>A (p.Arg606=)
|
rs2114242478
|
|
NM_000287.4(PEX6):c.181G>A (p.Asp61Asn)
|
|
|
NM_000287.4(PEX6):c.1821C>A (p.Ala607=)
|
rs201730259
|
|
NM_000287.4(PEX6):c.1823T>C (p.Leu608Pro)
|
rs1561821635
|
|
NM_000287.4(PEX6):c.1824C>T (p.Leu608=)
|
|
|
NM_000287.4(PEX6):c.1826C>T (p.Thr609Ile)
|
rs2114242443
|
|
NM_000287.4(PEX6):c.1833C>G (p.His611Gln)
|
rs1335182312
|
|
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.1849G>A (p.Glu617Lys)
|
|
|
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.1866G>T (p.Gln622His)
|
|
|
NM_000287.4(PEX6):c.186G>A (p.Ala62=)
|
|
|
NM_000287.4(PEX6):c.1870G>T (p.Ala624Ser)
|
|
|
NM_000287.4(PEX6):c.1871C>T (p.Ala624Val)
|
rs2114242326
|
|
NM_000287.4(PEX6):c.1872A>G (p.Ala624=)
|
rs2114242320
|
|
NM_000287.4(PEX6):c.1873C>T (p.Arg625Trp)
|
|
|
NM_000287.4(PEX6):c.1874G>A (p.Arg625Gln)
|
rs1769868642
|
|
NM_000287.4(PEX6):c.1875G>A (p.Arg625=)
|
|
|
NM_000287.4(PEX6):c.1878G>A (p.Arg626=)
|
|
|
NM_000287.4(PEX6):c.187G>T (p.Gly63Cys)
|
|
|
NM_000287.4(PEX6):c.1880G>A (p.Cys627Tyr)
|
rs2114242285
|
|
NM_000287.4(PEX6):c.1881T>G (p.Cys627Trp)
|
|
|
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+1G>A
|
|
|
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.1885-1G>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.1891del (p.Val631fs)
|
rs2114241031
|
|
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.1900G>A (p.Asp634Asn)
|
rs2114241000
|
|
NM_000287.4(PEX6):c.1900G>T (p.Asp634Tyr)
|
|
|
NM_000287.4(PEX6):c.1905C>T (p.Leu635=)
|
|
|
NM_000287.4(PEX6):c.1908T>A (p.Tyr636Ter)
|
|
|
NM_000287.4(PEX6):c.1910C>G (p.Ala637Gly)
|
rs2114240982
|
|
NM_000287.4(PEX6):c.1920C>T (p.Thr640=)
|
rs768582992
|
|
NM_000287.4(PEX6):c.1922A>C (p.His641Pro)
|
|
|
NM_000287.4(PEX6):c.1923C>T (p.His641=)
|
|
|
NM_000287.4(PEX6):c.192C>A (p.Thr64=)
|
rs1310661091
|
|
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp)
|
rs769896492
|
|
NM_000287.4(PEX6):c.1935A>C (p.Ala645=)
|
rs1769827119
|
|
NM_000287.4(PEX6):c.193G>A (p.Glu65Lys)
|
|
|
NM_000287.4(PEX6):c.1940_1941delinsAT (p.Cys647Tyr)
|
rs2114240908
|
|
NM_000287.4(PEX6):c.1944C>T (p.Thr648=)
|
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
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.196G>A (p.Glu66Lys)
|
|
|
NM_000287.4(PEX6):c.1970G>A (p.Gly657Asp)
|
rs2114240555
|
|
NM_000287.4(PEX6):c.1974C>A (p.Gly658=)
|
|
|
NM_000287.4(PEX6):c.1982A>C (p.Glu661Ala)
|
rs2114240531
|
|
NM_000287.4(PEX6):c.1989T>C (p.Asp663=)
|
|
|
NM_000287.4(PEX6):c.1992G>A (p.Glu664=)
|
rs267608230
|
|
NM_000287.4(PEX6):c.1993G>T (p.Gly665Trp)
|
|
|
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter)
|
rs1769818844
|
|
NM_000287.4(PEX6):c.1998G>A (p.Glu666=)
|
|
|
NM_000287.4(PEX6):c.1998G>T (p.Glu666Asp)
|
|
|
NM_000287.4(PEX6):c.1999C>T (p.Leu667=)
|
|
|
NM_000287.4(PEX6):c.19C>A (p.Arg7=)
|
rs1217791583
|
|
NM_000287.4(PEX6):c.1A>G (p.Met1Val)
|
|
|
NM_000287.4(PEX6):c.1A>T (p.Met1Leu)
|
|
|
NM_000287.4(PEX6):c.2001G>A (p.Leu667=)
|
|
|
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
|
|
|
NM_000287.4(PEX6):c.2017C>T (p.Pro673Ser)
|
|
|
NM_000287.4(PEX6):c.2018C>G (p.Pro673Arg)
|
rs2114240452
|
|
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.202G>C (p.Gly68Arg)
|
rs752644254
|
|
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.205C>T (p.Pro69Ser)
|
|
|
NM_000287.4(PEX6):c.2063del (p.Thr688fs)
|
|
|
NM_000287.4(PEX6):c.2064A>C (p.Thr688=)
|
rs2114240371
|
|
NM_000287.4(PEX6):c.2066C>T (p.Ala689Val)
|
rs1396207688
|
|
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter)
|
rs201306028
|
|
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.2082del (p.Gly695fs)
|
rs766483138
|
|
NM_000287.4(PEX6):c.2085A>C (p.Gly695=)
|
|
|
NM_000287.4(PEX6):c.2088C>G (p.Ala696=)
|
|
|
NM_000287.4(PEX6):c.208G>A (p.Gly70Arg)
|
rs2150240598
|
|
NM_000287.4(PEX6):c.2091C>A (p.Pro697=)
|
|
|
NM_000287.4(PEX6):c.2093A>G (p.Lys698Arg)
|
rs2114240305
|
|
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+1G>A
|
rs1581760572
|
|
NM_000287.4(PEX6):c.2094+4G>A
|
rs943511270
|
|
NM_000287.4(PEX6):c.2094+4G>C
|
rs943511270
|
|
NM_000287.4(PEX6):c.2094+4_2094+6del
|
|
|
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.2095-21_2095-10del
|
rs772869377
|
|
NM_000287.4(PEX6):c.2095-2A>G
|
|
|
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.2111G>C (p.Trp704Ser)
|
|
|
NM_000287.4(PEX6):c.2118T>C (p.Asp706=)
|
rs1643998562
|
|
NM_000287.4(PEX6):c.2120dup (p.Gly709fs)
|
|
|
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg)
|
rs1254717257
|
|
NM_000287.4(PEX6):c.2128C>T (p.Leu710=)
|
rs2114240061
|
|
NM_000287.4(PEX6):c.212del (p.Pro71fs)
|
rs2150240582
|
|
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.2148G>C (p.Glu716Asp)
|
|
|
NM_000287.4(PEX6):c.2150T>C (p.Ile717Thr)
|
rs2114239994
|
|
NM_000287.4(PEX6):c.2152C>G (p.Leu718Val)
|
rs1769807803
|
|
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.2167C>G (p.Leu723Val)
|
|
|
NM_000287.4(PEX6):c.2169C>T (p.Leu723=)
|
|
|
NM_000287.4(PEX6):c.216G>T (p.Pro72=)
|
rs2150240570
|
|
NM_000287.4(PEX6):c.2171C>T (p.Pro724Leu)
|
rs201270008
|
|
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.217C>T (p.Gln73Ter)
|
|
|
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.2192T>G (p.Leu731Arg)
|
|
|
NM_000287.4(PEX6):c.2193G>A (p.Leu731=)
|
rs1769805711
|
|
NM_000287.4(PEX6):c.2195G>T (p.Ser732Ile)
|
|
|
NM_000287.4(PEX6):c.2196C>G (p.Ser732Arg)
|
rs1485203588
|
|
NM_000287.4(PEX6):c.2198T>C (p.Leu733Pro)
|
rs1581760232
|
|
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.2224C>T (p.Leu742Phe)
|
|
|
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.2241C>T (p.Gly747=)
|
rs2114239728
|
|
NM_000287.4(PEX6):c.2244del (p.Gly749fs)
|
|
|
NM_000287.4(PEX6):c.224T>C (p.Leu75Pro)
|
|
|
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.2261C>T (p.Ala754Val)
|
|
|
NM_000287.4(PEX6):c.2268A>T (p.Ala756=)
|
rs1769801311
|
|
NM_000287.4(PEX6):c.226G>A (p.Val76Ile)
|
|
|
NM_000287.4(PEX6):c.2272G>A (p.Ala758Thr)
|
rs1769800975
|
|
NM_000287.4(PEX6):c.2276_2277del (p.Thr759fs)
|
|
|
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>A
|
rs1769791098
|
|
NM_000287.4(PEX6):c.2301-9C>G
|
rs1769791098
|
|
NM_000287.4(PEX6):c.2301-9C>T
|
|
|
NM_000287.4(PEX6):c.2301C>T (p.Ser767=)
|
|
|
NM_000287.4(PEX6):c.2302G>A (p.Val768Met)
|
|
|
NM_000287.4(PEX6):c.2304G>A (p.Val768=)
|
rs1387258527
|
|
NM_000287.4(PEX6):c.2306A>C (p.Lys769Thr)
|
|
|
NM_000287.4(PEX6):c.2315del (p.Glu772fs)
|
|
|
NM_000287.4(PEX6):c.2316G>T (p.Glu772Asp)
|
|
|
NM_000287.4(PEX6):c.2325C>T (p.Asn775=)
|
rs2114239277
|
|
NM_000287.4(PEX6):c.2327T>C (p.Met776Thr)
|
rs2114239270
|
|
NM_000287.4(PEX6):c.2334G>T (p.Val778=)
|
|
|
NM_000287.4(PEX6):c.2343T>C (p.Ser781=)
|
rs1769788025
|
|
NM_000287.4(PEX6):c.2350A>G (p.Asn784Asp)
|
rs929525105
|
|
NM_000287.4(PEX6):c.2351A>G (p.Asn784Ser)
|
rs1769787466
|
|
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.235G>C (p.Ala79Pro)
|
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.2363-2A>C
|
rs1769772582
|
|
NM_000287.4(PEX6):c.2363-2A>G
|
|
|
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.2364_2365del
|
rs755716911
|
|
NM_000287.4(PEX6):c.236C>T (p.Ala79Val)
|
|
|
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.237_238del (p.Leu80fs)
|
rs1178535907
|
|
NM_000287.4(PEX6):c.2392T>C (p.Cys798Arg)
|
|
|
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)
|
rs62653602
|
|
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr)
|
rs748244253
|
|
NM_000287.4(PEX6):c.2403C>T (p.Phe801=)
|
|
|
NM_000287.4(PEX6):c.2410G>T (p.Glu804Ter)
|
|
|
NM_000287.4(PEX6):c.2419T>C (p.Ser807Pro)
|
|
|
NM_000287.4(PEX6):c.2433C>T (p.Ser811=)
|
rs749497998
|
|
NM_000287.4(PEX6):c.2434C>T (p.Arg812Trp)
|
rs61753228
|
|
NM_000287.4(PEX6):c.2434del (p.Arg812fs)
|
|
|
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln)
|
rs2114238521
|
|
NM_000287.4(PEX6):c.2436G>T (p.Arg812=)
|
|
|
NM_000287.4(PEX6):c.2439G>C (p.Gly813=)
|
|
|
NM_000287.4(PEX6):c.2439del (p.Arg814fs)
|
rs1554126955
|
|
NM_000287.4(PEX6):c.2445T>C (p.Ser815=)
|
rs2114238472
|
|
NM_000287.4(PEX6):c.2453C>G (p.Ser818Cys)
|
|
|
NM_000287.4(PEX6):c.245G>C (p.Arg82Pro)
|
rs2150240495
|
|
NM_000287.4(PEX6):c.2470del (p.Arg824fs)
|
rs2114238399
|
|
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+1G>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.2472-1G>A
|
|
|
NM_000287.4(PEX6):c.2472-2A>G
|
rs267608242
|
|
NM_000287.4(PEX6):c.2472-6del
|
|
|
NM_000287.4(PEX6):c.2472-9TC[2]
|
|
|
NM_000287.4(PEX6):c.2476G>A (p.Val826Met)
|
rs1769733515
|
|
NM_000287.4(PEX6):c.2476G>T (p.Val826Leu)
|
rs1769733515
|
|
NM_000287.4(PEX6):c.2478G>A (p.Val826=)
|
rs1769733339
|
|
NM_000287.4(PEX6):c.247C>G (p.Leu83Val)
|
rs1770435941
|
|
NM_000287.4(PEX6):c.2484G>A (p.Gln828=)
|
|
|
NM_000287.4(PEX6):c.2487C>G (p.Leu829=)
|
|
|
NM_000287.4(PEX6):c.2488C>G (p.Leu830Val)
|
rs749533099
|
|
NM_000287.4(PEX6):c.2490T>C (p.Leu830=)
|
|
|
NM_000287.4(PEX6):c.249C>G (p.Leu83=)
|
|
|
NM_000287.4(PEX6):c.2503G>T (p.Gly835Trp)
|
|
|
NM_000287.4(PEX6):c.2504G>A (p.Gly835Glu)
|
|
|
NM_000287.4(PEX6):c.2511C>T (p.His837=)
|
|
|
NM_000287.4(PEX6):c.2518C>T (p.Gln840Ter)
|
|
|
NM_000287.4(PEX6):c.2524G>A (p.Val842Met)
|
|
|
NM_000287.4(PEX6):c.2535T>C (p.Ile845=)
|
rs2114237619
|
|
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup)
|
rs1554128546
|
|
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.2565C>A (p.Asp855Glu)
|
|
|
NM_000287.4(PEX6):c.2572C>A (p.Leu858Ile)
|
rs1769725500
|
|
NM_000287.4(PEX6):c.2573T>C (p.Leu858Pro)
|
rs1769725308
|
|
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.2578C>T (p.Arg860Trp)
|
rs61753230
|
|
NM_000287.4(PEX6):c.2579G>C (p.Arg860Pro)
|
rs61753231
|
|
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.2581C>G (p.Pro861Ala)
|
|
|
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
|
|
|
NM_000287.4(PEX6):c.2587A>G (p.Arg863Gly)
|
rs1769723613
|
|
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.2589-11T>G
|
|
|
NM_000287.4(PEX6):c.2589-12A>G
|
|
|
NM_000287.4(PEX6):c.2589-19C>A
|
|
|
NM_000287.4(PEX6):c.2589-1G>A
|
|
|
NM_000287.4(PEX6):c.2589-1G>T
|
rs2114237186
|
|
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.2627G>A (p.Arg876Gln)
|
|
|
NM_000287.4(PEX6):c.2631C>A (p.Ala877=)
|
|
|
NM_000287.4(PEX6):c.2634C>T (p.Ser878=)
|
rs965913951
|
|
NM_000287.4(PEX6):c.2635C>G (p.Gln879Glu)
|
rs1769709206
|
|
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.2663G>T (p.Arg888Leu)
|
rs267608247
|
|
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+1G>T
|
rs2114236937
|
|
NM_000287.4(PEX6):c.2666+5G>A
|
rs1332626624
|
|
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.2667-2A>C
|
rs267608249
|
|
NM_000287.4(PEX6):c.2667-2A>G
|
rs267608249
|
|
NM_000287.4(PEX6):c.2667-6C>T
|
|
|
NM_000287.4(PEX6):c.2667-9C>T
|
rs2114236564
|
|
NM_000287.4(PEX6):c.2668T>C (p.Phe890Leu)
|
rs2114236546
|
|
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.2702T>C (p.Val901Ala)
|
rs1209841271
|
|
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.2722C>T (p.Gln908Ter)
|
rs2114236416
|
|
NM_000287.4(PEX6):c.2724G>A (p.Gln908=)
|
rs2114236409
|
|
NM_000287.4(PEX6):c.272G>C (p.Trp91Ser)
|
|
|
NM_000287.4(PEX6):c.2734G>T (p.Ala912Ser)
|
|
|
NM_000287.4(PEX6):c.2753G>A (p.Cys918Tyr)
|
rs1418426929
|
|
NM_000287.4(PEX6):c.2754C>T (p.Cys918=)
|
|
|
NM_000287.4(PEX6):c.2754_2758del (p.Cys918_Asp920delinsTer)
|
rs2114236281
|
|
NM_000287.4(PEX6):c.2757T>C (p.Ser919=)
|
rs747906867
|
|
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup)
|
rs61752142
|
|
NM_000287.4(PEX6):c.2763T>A (p.Ala921=)
|
|
|
NM_000287.4(PEX6):c.2768C>T (p.Thr923Ile)
|
|
|
NM_000287.4(PEX6):c.276G>A (p.Val92=)
|
rs2150240428
|
|
NM_000287.4(PEX6):c.2773_2774delinsCT (p.Ala925Leu)
|
rs2114236221
|
|
NM_000287.4(PEX6):c.2778C>G (p.Leu926=)
|
|
|
NM_000287.4(PEX6):c.2778C>T (p.Leu926=)
|
|
|
NM_000287.4(PEX6):c.277CGGGCG[1] (p.93RA[1])
|
rs61753208
|
|
NM_000287.4(PEX6):c.2782C>T (p.Arg928Cys)
|
|
|
NM_000287.4(PEX6):c.2785A>G (p.Arg929Gly)
|
rs1232075600
|
|
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+6C>T
|
|
|
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_2816delinsAGA (p.Pro939Glu)
|
|
|
NM_000287.4(PEX6):c.2816C>G (p.Pro939Arg)
|
rs1129187
|
|
NM_000287.4(PEX6):c.281C>A (p.Ala94Glu)
|
rs61752143
|
|
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.2830C>A (p.Leu944Met)
|
rs2063704023
|
|
NM_000287.4(PEX6):c.2838C>T (p.Leu946=)
|
rs1561818692
|
|
NM_000287.4(PEX6):c.2842A>G (p.Met948Val)
|
|
|
NM_000287.4(PEX6):c.2845G>A (p.Glu949Lys)
|
|
|
NM_000287.4(PEX6):c.2847G>A (p.Glu949=)
|
|
|
NM_000287.4(PEX6):c.284G>A (p.Arg95Gln)
|
|
|
NM_000287.4(PEX6):c.284G>C (p.Arg95Pro)
|
rs2150240407
|
|
NM_000287.4(PEX6):c.2850C>G (p.Asp950Glu)
|
rs1251800022
|
|
NM_000287.4(PEX6):c.2850C>T (p.Asp950=)
|
rs1251800022
|
|
NM_000287.4(PEX6):c.2856G>A (p.Leu952=)
|
|
|
NM_000287.4(PEX6):c.2861C>T (p.Ala954Val)
|
|
|
NM_000287.4(PEX6):c.2862T>G (p.Ala954=)
|
|
|
NM_000287.4(PEX6):c.2865C>T (p.Ala955=)
|
rs1407928755
|
|
NM_000287.4(PEX6):c.2866G>T (p.Ala956Ser)
|
rs774145857
|
|
NM_000287.4(PEX6):c.286_289del (p.Ala96fs)
|
|
|
NM_000287.4(PEX6):c.2871G>A (p.Arg957=)
|
rs1370470867
|
|
NM_000287.4(PEX6):c.2873T>G (p.Leu958Arg)
|
rs2114235199
|
|
NM_000287.4(PEX6):c.2874G>C (p.Leu958=)
|
rs769653284
|
|
NM_000287.4(PEX6):c.2882C>T (p.Ser961Leu)
|
rs886043724
|
|
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.2893C>G (p.Gln965Glu)
|
|
|
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.2905C>T (p.Arg969Trp)
|
|
|
NM_000287.4(PEX6):c.2906G>T (p.Arg969Leu)
|
|
|
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.2908T>C (p.Tyr970His)
|
|
|
NM_000287.4(PEX6):c.2910C>T (p.Tyr970=)
|
rs1448846802
|
|
NM_000287.4(PEX6):c.2913G>C (p.Lys971Asn)
|
|
|
NM_000287.4(PEX6):c.2915G>T (p.Arg972Leu)
|
rs751058292
|
|
NM_000287.4(PEX6):c.2921A>C (p.Gln974Pro)
|
rs1211978587
|
|
NM_000287.4(PEX6):c.2938T>A (p.Cys980Ser)
|
|
|
NM_000287.4(PEX6):c.2938T>G (p.Cys980Gly)
|
rs1427401725
|
|
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.2T>C (p.Met1Thr)
|
rs1554128597
|
|
NM_000287.4(PEX6):c.300C>G (p.Pro100=)
|
|
|
NM_000287.4(PEX6):c.300C>T (p.Pro100=)
|
rs1581779515
|
|
NM_000287.4(PEX6):c.302C>G (p.Pro101Arg)
|
rs774813175
|
|
NM_000287.4(PEX6):c.302C>T (p.Pro101Leu)
|
|
|
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.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.313T>C (p.Trp105Arg)
|
|
|
NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)
|
|
|
NM_000287.4(PEX6):c.316G>A (p.Ala106Thr)
|
rs2150240338
|
|
NM_000287.4(PEX6):c.317C>T (p.Ala106Val)
|
|
|
NM_000287.4(PEX6):c.318A>C (p.Ala106=)
|
rs1581779470
|
|
NM_000287.4(PEX6):c.321G>A (p.Leu107=)
|
|
|
NM_000287.4(PEX6):c.32C>T (p.Pro11Leu)
|
rs2150240912
|
|
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.337G>A (p.Gly113Arg)
|
|
|
NM_000287.4(PEX6):c.339G>T (p.Gly113=)
|
rs1770429617
|
|
NM_000287.4(PEX6):c.33C>T (p.Pro11=)
|
|
|
NM_000287.4(PEX6):c.346C>T (p.Leu116Phe)
|
rs1770429515
|
|
NM_000287.4(PEX6):c.352C>T (p.Pro118Ser)
|
|
|
NM_000287.4(PEX6):c.357A>T (p.Arg119=)
|
|
|
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser)
|
rs61752139
|
|
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.373G>T (p.Val125Leu)
|
rs1383547974
|
|
NM_000287.4(PEX6):c.375G>T (p.Val125=)
|
rs765259967
|
|
NM_000287.4(PEX6):c.37C>A (p.Pro13Thr)
|
|
|
NM_000287.4(PEX6):c.381C>G (p.Arg127=)
|
rs1377750772
|
|
NM_000287.4(PEX6):c.385_388del (p.Glu129fs)
|
rs1554128501
|
|
NM_000287.4(PEX6):c.392_395del (p.Leu131fs)
|
|
|
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.402del (p.Gly135fs)
|
|
|
NM_000287.4(PEX6):c.403G>A (p.Gly135Arg)
|
|
|
NM_000287.4(PEX6):c.403G>C (p.Gly135Arg)
|
|
|
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.424C>T (p.Arg142Trp)
|
|
|
NM_000287.4(PEX6):c.427_485del (p.Pro143fs)
|
|
|
NM_000287.4(PEX6):c.42C>A (p.Thr14=)
|
rs1375938727
|
|
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.446T>A (p.Leu149Gln)
|
rs1561830810
|
|
NM_000287.4(PEX6):c.44A>T (p.Glu15Val)
|
|
|
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.469G>A (p.Val157Met)
|
rs777547423
|
|
NM_000287.4(PEX6):c.473C>G (p.Thr158Ser)
|
|
|
NM_000287.4(PEX6):c.474T>G (p.Thr158=)
|
|
|
NM_000287.4(PEX6):c.475G>C (p.Glu159Gln)
|
rs991248029
|
|
NM_000287.4(PEX6):c.480C>T (p.Leu160=)
|
|
|
NM_000287.4(PEX6):c.481C>T (p.Arg161Cys)
|
|
|
NM_000287.4(PEX6):c.483C>A (p.Arg161=)
|
rs772034979
|
|
NM_000287.4(PEX6):c.485G>C (p.Gly162Ala)
|
|
|
NM_000287.4(PEX6):c.486G>A (p.Gly162=)
|
|
|
NM_000287.4(PEX6):c.490G>A (p.Ala164Thr)
|
|
|
NM_000287.4(PEX6):c.494G>A (p.Arg165Lys)
|
|
|
NM_000287.4(PEX6):c.496C>A (p.Leu166Met)
|
rs1770417803
|
|
NM_000287.4(PEX6):c.498G>C (p.Leu166=)
|
|
|
NM_000287.4(PEX6):c.49C>A (p.Pro17Thr)
|
rs918969564
|
|
NM_000287.4(PEX6):c.4G>A (p.Ala2Thr)
|
rs748585216
|
|
NM_000287.4(PEX6):c.503_504del (p.Pro168fs)
|
|
|
NM_000287.4(PEX6):c.506_507del (p.Glu169fs)
|
rs1554128461
|
|
NM_000287.4(PEX6):c.508T>C (p.Ser170Pro)
|
rs1233039273
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.514del (p.Asp172fs)
|
|
|
NM_000287.4(PEX6):c.514dup (p.Asp172fs)
|
rs2150239907
|
|
NM_000287.4(PEX6):c.516C>T (p.Asp172=)
|
rs2150239905
|
|
NM_000287.4(PEX6):c.516CAG[1] (p.Ser174del)
|
rs1770416024
|
|
NM_000287.4(PEX6):c.517A>G (p.Ser173Gly)
|
|
|
NM_000287.4(PEX6):c.519C>T (p.Ser173=)
|
|
|
NM_000287.4(PEX6):c.524G>T (p.Arg175Leu)
|
|
|
NM_000287.4(PEX6):c.528C>T (p.Pro176=)
|
rs2150239878
|
|
NM_000287.4(PEX6):c.52C>T (p.Pro18Ser)
|
rs1770447100
|
|
NM_000287.4(PEX6):c.530del (p.Pro177fs)
|
|
|
NM_000287.4(PEX6):c.531del (p.Pro179fs)
|
rs2150239870
|
|
NM_000287.4(PEX6):c.532C>T (p.Pro178Ser)
|
rs1331493124
|
|
NM_000287.4(PEX6):c.534C>G (p.Pro178=)
|
rs899897123
|
|
NM_000287.4(PEX6):c.53C>T (p.Pro18Leu)
|
|
|
NM_000287.4(PEX6):c.540C>T (p.Pro180=)
|
|
|
NM_000287.4(PEX6):c.541G>A (p.Val181Met)
|
|
|
NM_000287.4(PEX6):c.544G>A (p.Val182Met)
|
|
|
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.559G>A (p.Val187Ile)
|
rs2150239788
|
|
NM_000287.4(PEX6):c.55T>C (p.Leu19=)
|
|
|
NM_000287.4(PEX6):c.564T>G (p.Ser188=)
|
rs569094067
|
|
NM_000287.4(PEX6):c.568A>G (p.Thr190Ala)
|
|
|
NM_000287.4(PEX6):c.573G>A (p.Val191=)
|
rs2150239764
|
|
NM_000287.4(PEX6):c.573_882+237delinsTGGTCA
|
|
|
NM_000287.4(PEX6):c.586G>A (p.Gly196Arg)
|
rs1770412754
|
|
NM_000287.4(PEX6):c.586G>C (p.Gly196Arg)
|
rs1770412754
|
|
NM_000287.4(PEX6):c.588A>G (p.Gly196=)
|
rs1581778763
|
|
NM_000287.4(PEX6):c.592C>G (p.Leu198Val)
|
rs1770412382
|
|
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.599G>A (p.Gly200Glu)
|
|
|
NM_000287.4(PEX6):c.600G>T (p.Gly200=)
|
|
|
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.614T>A (p.Leu205Gln)
|
|
|
NM_000287.4(PEX6):c.614T>C (p.Leu205Pro)
|
rs1379179938
|
|
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.630del (p.Cys211fs)
|
rs2150239689
|
|
NM_000287.4(PEX6):c.636C>T (p.Leu212=)
|
|
|
NM_000287.4(PEX6):c.63G>T (p.Val21=)
|
rs2150240833
|
|
NM_000287.4(PEX6):c.643C>G (p.Leu215Val)
|
rs865933425
|
|
NM_000287.4(PEX6):c.645T>C (p.Leu215=)
|
rs2150239655
|
|
NM_000287.4(PEX6):c.655C>T (p.Gln219Ter)
|
|
|
NM_000287.4(PEX6):c.655del (p.Gln219fs)
|
|
|
NM_000287.4(PEX6):c.656del (p.Gln219fs)
|
rs267608202
|
|
NM_000287.4(PEX6):c.658G>A (p.Gly220Ser)
|
|
|
NM_000287.4(PEX6):c.658G>C (p.Gly220Arg)
|
|
|
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)
|
rs267608203
|
|
NM_000287.4(PEX6):c.660C>A (p.Gly220=)
|
|
|
NM_000287.4(PEX6):c.660C>T (p.Gly220=)
|
|
|
NM_000287.4(PEX6):c.667G>A (p.Val223Met)
|
|
|
NM_000287.4(PEX6):c.668dup (p.Trp224fs)
|
|
|
NM_000287.4(PEX6):c.669G>C (p.Val223=)
|
rs899965642
|
|
NM_000287.4(PEX6):c.669G>T (p.Val223=)
|
|
|
NM_000287.4(PEX6):c.671G>A (p.Trp224Ter)
|
|
|
NM_000287.4(PEX6):c.673G>A (p.Val225Met)
|
rs1770406575
|
|
NM_000287.4(PEX6):c.675G>C (p.Val225=)
|
rs2150239609
|
|
NM_000287.4(PEX6):c.677C>A (p.Ala226Asp)
|
rs2150239605
|
|
NM_000287.4(PEX6):c.678C>G (p.Ala226=)
|
|
|
NM_000287.4(PEX6):c.67C>G (p.Leu23Val)
|
|
|
NM_000287.4(PEX6):c.67C>T (p.Leu23=)
|
|
|
NM_000287.4(PEX6):c.681G>A (p.Gln227=)
|
rs1770406319
|
|
NM_000287.4(PEX6):c.683C>G (p.Ala228Gly)
|
|
|
NM_000287.4(PEX6):c.684C>G (p.Ala228=)
|
|
|
NM_000287.4(PEX6):c.687A>G (p.Arg229=)
|
|
|
NM_000287.4(PEX6):c.689_690del (p.Glu230fs)
|
rs398123305
|
|
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs)
|
rs398123305
|
|
NM_000287.4(PEX6):c.692C>G (p.Ser231Ter)
|
|
|
NM_000287.4(PEX6):c.695C>T (p.Ser232Leu)
|
|
|
NM_000287.4(PEX6):c.696G>A (p.Ser232=)
|
rs2150239568
|
|
NM_000287.4(PEX6):c.697A>C (p.Asn233His)
|
|
|
NM_000287.4(PEX6):c.697A>G (p.Asn233Asp)
|
rs374452739
|
|
NM_000287.4(PEX6):c.698del (p.Asn233fs)
|
|
|
NM_000287.4(PEX6):c.69G>A (p.Leu23=)
|
|
|
NM_000287.4(PEX6):c.6G>A (p.Ala2=)
|
rs1406727123
|
|
NM_000287.4(PEX6):c.701C>G (p.Thr234Ser)
|
|
|
NM_000287.4(PEX6):c.701C>T (p.Thr234Ile)
|
|
|
NM_000287.4(PEX6):c.703T>C (p.Ser235Pro)
|
|
|
NM_000287.4(PEX6):c.706C>T (p.Gln236Ter)
|
rs779526175
|
|
NM_000287.4(PEX6):c.709C>T (p.Pro237Ser)
|
|
|
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.718G>A (p.Ala240Thr)
|
rs886061412
|
|
NM_000287.4(PEX6):c.720T>A (p.Ala240=)
|
|
|
NM_000287.4(PEX6):c.723G>A (p.Arg241=)
|
|
|
NM_000287.4(PEX6):c.724G>T (p.Val242Leu)
|
rs368915893
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
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.737A>T (p.Glu246Val)
|
rs1770401105
|
|
NM_000287.4(PEX6):c.738A>G (p.Glu246=)
|
|
|
NM_000287.4(PEX6):c.738_741del (p.Glu246fs)
|
rs2150239487
|
|
NM_000287.4(PEX6):c.740dup (p.Arg248fs)
|
|
|
NM_000287.4(PEX6):c.741T>G (p.Pro247=)
|
rs2150239485
|
|
NM_000287.4(PEX6):c.744C>T (p.Arg248=)
|
|
|
NM_000287.4(PEX6):c.746G>A (p.Trp249Ter)
|
|
|
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter)
|
rs1770400284
|
|
NM_000287.4(PEX6):c.749A>G (p.Asp250Gly)
|
|
|
NM_000287.4(PEX6):c.750C>T (p.Asp250=)
|
rs2150239454
|
|
NM_000287.4(PEX6):c.751C>G (p.Leu251Val)
|
rs769332435
|
|
NM_000287.4(PEX6):c.751C>T (p.Leu251Phe)
|
|
|
NM_000287.4(PEX6):c.753C>A (p.Leu251=)
|
rs898341197
|
|
NM_000287.4(PEX6):c.754T>A (p.Ser252Thr)
|
|
|
NM_000287.4(PEX6):c.755_756del (p.Leu251_Ser252insTer)
|
|
|
NM_000287.4(PEX6):c.756T>C (p.Ser252=)
|
|
|
NM_000287.4(PEX6):c.763C>T (p.Leu255=)
|
|
|
NM_000287.4(PEX6):c.76G>C (p.Gly26Arg)
|
rs1268867658
|
|
NM_000287.4(PEX6):c.770C>A (p.Pro257His)
|
|
|
NM_000287.4(PEX6):c.771C>A (p.Pro257=)
|
|
|
NM_000287.4(PEX6):c.774C>T (p.Gly258=)
|
|
|
NM_000287.4(PEX6):c.776C>T (p.Ser259Phe)
|
rs201329563
|
|
NM_000287.4(PEX6):c.780_782dup (p.Pro261dup)
|
rs1770395486
|
|
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.78_79delinsAA (p.Gly27Ser)
|
|
|
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.802_815del (p.Asp268fs)
|
rs63749004
|
|
NM_000287.4(PEX6):c.80G>C (p.Gly27Ala)
|
rs983060034
|
|
NM_000287.4(PEX6):c.812C>T (p.Ala271Val)
|
|
|
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.814_817dup (p.Val273fs)
|
rs367543282
|
|
NM_000287.4(PEX6):c.817G>C (p.Val273Leu)
|
rs1770393206
|
|
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.824C>G (p.Ala275Gly)
|
|
|
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>A (p.Leu277Met)
|
rs1198487899
|
|
NM_000287.4(PEX6):c.829T>C (p.Leu277=)
|
rs1198487899
|
|
NM_000287.4(PEX6):c.831_834del (p.Leu277fs)
|
|
|
NM_000287.4(PEX6):c.839A>G (p.Asn280Ser)
|
|
|
NM_000287.4(PEX6):c.83C>G (p.Pro28Arg)
|
|
|
NM_000287.4(PEX6):c.846C>T (p.Gly282=)
|
rs1219108908
|
|
NM_000287.4(PEX6):c.853C>A (p.Pro285Thr)
|
rs61753220
|
|
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.856C>G (p.Leu286Val)
|
rs2150239282
|
|
NM_000287.4(PEX6):c.856del (p.Leu286fs)
|
rs267608205
|
|
NM_000287.4(PEX6):c.866G>A (p.Gly289Glu)
|
|
|
NM_000287.4(PEX6):c.867A>G (p.Gly289=)
|
|
|
NM_000287.4(PEX6):c.873C>T (p.Leu291=)
|
rs754432833
|
|
NM_000287.4(PEX6):c.87G>A (p.Trp29Ter)
|
|
|
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.882+1G>A
|
rs267608207
|
|
NM_000287.4(PEX6):c.882+4G>A
|
rs756846884
|
|
NM_000287.4(PEX6):c.882+5G>A
|
rs1770388962
|
|
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.883-2A>G
|
|
|
NM_000287.4(PEX6):c.883-5A>G
|
rs1770231417
|
|
NM_000287.4(PEX6):c.883-6T>C
|
rs2150236212
|
|
NM_000287.4(PEX6):c.883-6_887del
|
|
|
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.896G>A (p.Gly299Asp)
|
rs548459114
|
|
NM_000287.4(PEX6):c.896del (p.Gly299fs)
|
|
|
NM_000287.4(PEX6):c.899C>T (p.Ser300Phe)
|
|
|
NM_000287.4(PEX6):c.906C>T (p.Ala302=)
|
rs1770229856
|
|
NM_000287.4(PEX6):c.909del (p.Glu304fs)
|
|
|
NM_000287.4(PEX6):c.912A>G (p.Glu304=)
|
rs2150236157
|
|
NM_000287.4(PEX6):c.914_923del (p.Asp305fs)
|
rs1364614470
|
|
NM_000287.4(PEX6):c.915C>G (p.Asp305Glu)
|
|
|
NM_000287.4(PEX6):c.916_919del (p.Lys306fs)
|
rs2150236148
|
|
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.937C>T (p.Pro313Ser)
|
|
|
NM_000287.4(PEX6):c.941G>T (p.Gly314Val)
|
rs746415021
|
|
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.953C>G (p.Ala318Gly)
|
rs200600289
|
|
NM_000287.4(PEX6):c.955A>C (p.Arg319=)
|
rs2150236072
|
|
NM_000287.4(PEX6):c.957A>G (p.Arg319=)
|
|
|
NM_000287.4(PEX6):c.959_960del (p.Glu320fs)
|
|
|
NM_000287.4(PEX6):c.966C>T (p.His322=)
|
rs752190220
|
|
NM_000287.4(PEX6):c.967A>G (p.Ile323Val)
|
|
|
NM_000287.4(PEX6):c.969C>T (p.Ile323=)
|
rs143001881
|
|
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.988C>T (p.His330Tyr)
|
rs1561827871
|
|
NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)
|
|
|
NM_000287.4(PEX6):c.993C>T (p.Tyr331=)
|
rs896144215
|
|
NM_000287.4(PEX6):c.994A>G (p.Ser332Gly)
|
|
|
NM_000287.4(PEX6):c.998C>G (p.Thr333Ser)
|
|
|
NM_000287.4(PEX6):c.999T>C (p.Thr333=)
|
rs2150236010
|
|
NM_000288.4(PEX7):c.100T>G (p.Cys34Gly)
|
rs1774101933
|
|
NM_000288.4(PEX7):c.105C>T (p.Ala35=)
|
|
|
NM_000288.4(PEX7):c.105_117del (p.Gln38fs)
|
|
|
NM_000288.4(PEX7):c.107C>T (p.Thr36Ile)
|
|
|
NM_000288.4(PEX7):c.108C>G (p.Thr36=)
|
|
|
NM_000288.4(PEX7):c.10del (p.Val4fs)
|
|
|
NM_000288.4(PEX7):c.111_112del (p.Gln38fs)
|
|
|
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter)
|
rs1774102216
|
|
NM_000288.4(PEX7):c.113A>G (p.Gln38Arg)
|
|
|
NM_000288.4(PEX7):c.116A>G (p.His39Arg)
|
rs61753237
|
|
NM_000288.4(PEX7):c.117C>G (p.His39Gln)
|
|
|
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.121G>C (p.Gly41Arg)
|
rs1210968366
|
|
NM_000288.4(PEX7):c.121G>T (p.Gly41Cys)
|
|
|
NM_000288.4(PEX7):c.122G>A (p.Gly41Asp)
|
rs61753239
|
|
NM_000288.4(PEX7):c.123C>A (p.Gly41=)
|
|
|
NM_000288.4(PEX7):c.12G>A (p.Val4=)
|
rs2115122241
|
|
NM_000288.4(PEX7):c.12del (p.Cys5fs)
|
|
|
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+2T>G
|
rs2115122957
|
|
NM_000288.4(PEX7):c.130+3G>A
|
|
|
NM_000288.4(PEX7):c.130+5G>A
|
|
|
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.131-1G>A
|
rs2115129048
|
|
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.131-9del
|
rs760985736
|
|
NM_000288.4(PEX7):c.131-9dup
|
|
|
NM_000288.4(PEX7):c.134G>A (p.Cys45Tyr)
|
rs2115129058
|
|
NM_000288.4(PEX7):c.136_137delinsCT (p.Gly46Leu)
|
rs2115129066
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
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.183del (p.Phe61fs)
|
rs774131564
|
|
NM_000288.4(PEX7):c.184A>G (p.Arg62Gly)
|
|
|
NM_000288.4(PEX7):c.188+1G>A
|
rs267608254
|
|
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.195C>G (p.Asp65Glu)
|
rs2115131716
|
|
NM_000288.4(PEX7):c.201T>C (p.Asn67=)
|
|
|
NM_000288.4(PEX7):c.208T>C (p.Leu70=)
|
|
|
NM_000288.4(PEX7):c.20G>A (p.Gly7Glu)
|
|
|
NM_000288.4(PEX7):c.212T>C (p.Phe71Ser)
|
rs902252309
|
|
NM_000288.4(PEX7):c.213del (p.Phe71fs)
|
rs1190462422
|
|
NM_000288.4(PEX7):c.216T>C (p.Asp72=)
|
rs1582732837
|
|
NM_000288.4(PEX7):c.21A>G (p.Gly7=)
|
|
|
NM_000288.4(PEX7):c.22G>C (p.Ala8Pro)
|
|
|
NM_000288.4(PEX7):c.22_31del (p.Ala8fs)
|
|
|
NM_000288.4(PEX7):c.234C>A (p.Asn78Lys)
|
rs560350898
|
|
NM_000288.4(PEX7):c.238G>A (p.Glu80Lys)
|
|
|
NM_000288.4(PEX7):c.23C>A (p.Ala8Glu)
|
rs1306941707
|
|
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.250dup (p.Ile84fs)
|
|
|
NM_000288.4(PEX7):c.255C>G (p.Thr85=)
|
|
|
NM_000288.4(PEX7):c.255C>T (p.Thr85=)
|
|
|
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr)
|
rs61753240
|
|
NM_000288.4(PEX7):c.257G>T (p.Cys86Phe)
|
|
|
NM_000288.4(PEX7):c.261T>C (p.Ser87=)
|
|
|
NM_000288.4(PEX7):c.264C>A (p.Gly88=)
|
|
|
NM_000288.4(PEX7):c.26C>A (p.Ala9Glu)
|
rs1774097710
|
|
NM_000288.4(PEX7):c.26C>T (p.Ala9Val)
|
|
|
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.275T>C (p.Leu92Pro)
|
|
|
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)
|
rs763514968
|
|
NM_000288.4(PEX7):c.278A>G (p.Gln93Arg)
|
|
|
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.286G>A (p.Asp96Asn)
|
rs1412257014
|
|
NM_000288.4(PEX7):c.289_290del (p.Thr97fs)
|
|
|
NM_000288.4(PEX7):c.294_313dup (p.Gln105fs)
|
|
|
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.313C>A (p.Gln105Lys)
|
|
|
NM_000288.4(PEX7):c.313C>G (p.Gln105Glu)
|
|
|
NM_000288.4(PEX7):c.315A>G (p.Gln105=)
|
rs767901695
|
|
NM_000288.4(PEX7):c.316G>C (p.Val106Leu)
|
rs886061121
|
|
NM_000288.4(PEX7):c.319T>A (p.Tyr107Asn)
|
|
|
NM_000288.4(PEX7):c.31_56dup (p.Tyr20fs)
|
|
|
NM_000288.4(PEX7):c.320A>G (p.Tyr107Cys)
|
|
|
NM_000288.4(PEX7):c.322A>G (p.Lys108Glu)
|
rs760182861
|
|
NM_000288.4(PEX7):c.327A>G (p.Glu109=)
|
|
|
NM_000288.4(PEX7):c.330C>G (p.His110Gln)
|
rs199648976
|
|
NM_000288.4(PEX7):c.330C>T (p.His110=)
|
rs199648976
|
|
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr)
|
rs368225510
|
|
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)
|
rs62653604
|
|
NM_000288.4(PEX7):c.335A>G (p.Gln112Arg)
|
|
|
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.340-1G>T
|
rs780751870
|
|
NM_000288.4(PEX7):c.340-9T>C
|
|
|
NM_000288.4(PEX7):c.346A>G (p.Ser116Gly)
|
|
|
NM_000288.4(PEX7):c.346_348del (p.Ser116del)
|
rs1774581899
|
|
NM_000288.4(PEX7):c.35_43dup (p.Thr14_Pro15insLeuArgThr)
|
|
|
NM_000288.4(PEX7):c.363_526+230del
|
rs1582744649
|
|
NM_000288.4(PEX7):c.364del (p.Thr122fs)
|
rs2115170460
|
|
NM_000288.4(PEX7):c.370_396del (p.Gly124_Ser132del)
|
|
|
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)
|
rs2115170536
|
|
NM_000288.4(PEX7):c.382G>A (p.Val128Met)
|
|
|
NM_000288.4(PEX7):c.382G>C (p.Val128Leu)
|
|
|
NM_000288.4(PEX7):c.385G>A (p.Val129Met)
|
rs746310218
|
|
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.418-1G>C
|
rs773406384
|
|
NM_000288.4(PEX7):c.418-4G>A
|
rs199552223
|
|
NM_000288.4(PEX7):c.419G>T (p.Trp140Leu)
|
|
|
NM_000288.4(PEX7):c.41C>T (p.Thr14Met)
|
|
|
NM_000288.4(PEX7):c.423T>A (p.Asp141Glu)
|
|
|
NM_000288.4(PEX7):c.429T>G (p.Thr143=)
|
|
|
NM_000288.4(PEX7):c.444G>A (p.Leu148=)
|
rs2115171520
|
|
NM_000288.4(PEX7):c.449C>G (p.Thr150Ser)
|
|
|
NM_000288.4(PEX7):c.457G>A (p.Gly153Ser)
|
|
|
NM_000288.4(PEX7):c.459C>G (p.Gly153=)
|
|
|
NM_000288.4(PEX7):c.45_52del (p.Gly16fs)
|
|
|
NM_000288.4(PEX7):c.45_52dup (p.His18fs)
|
rs63535662
|
|
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.46G>C (p.Gly16Arg)
|
rs1774098770
|
|
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs)
|
rs2115171634
|
|
NM_000288.4(PEX7):c.477T>C (p.Tyr159=)
|
|
|
NM_000288.4(PEX7):c.480C>T (p.Ser160=)
|
rs2115171668
|
|
NM_000288.4(PEX7):c.484A>G (p.Ile162Val)
|
|
|
NM_000288.4(PEX7):c.486C>T (p.Ile162=)
|
|
|
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)
|
rs1173171051
|
|
NM_000288.4(PEX7):c.489G>T (p.Trp163Cys)
|
|
|
NM_000288.4(PEX7):c.48A>G (p.Gly16=)
|
|
|
NM_000288.4(PEX7):c.492T>G (p.Ser164=)
|
|
|
NM_000288.4(PEX7):c.494C>A (p.Pro165His)
|
|
|
NM_000288.4(PEX7):c.495C>G (p.Pro165=)
|
rs2115171713
|
|
NM_000288.4(PEX7):c.498C>T (p.His166=)
|
|
|
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)
|
rs1774099032
|
|
NM_000288.4(PEX7):c.504T>C (p.Pro168=)
|
rs770113657
|
|
NM_000288.4(PEX7):c.507T>C (p.Gly169=)
|
|
|
NM_000288.4(PEX7):c.508T>C (p.Cys170Arg)
|
|
|
NM_000288.4(PEX7):c.508T>G (p.Cys170Gly)
|
|
|
NM_000288.4(PEX7):c.508del (p.Cys170fs)
|
rs1057516827
|
|
NM_000288.4(PEX7):c.513T>C (p.Phe171=)
|
rs2115171775
|
|
NM_000288.4(PEX7):c.514G>C (p.Ala172Pro)
|
rs1562734989
|
|
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.517del (p.Ser173fs)
|
rs2115171791
|
|
NM_000288.4(PEX7):c.519A>G (p.Ser173=)
|
|
|
NM_000288.4(PEX7):c.519A>T (p.Ser173=)
|
rs2115171796
|
|
NM_000288.4(PEX7):c.523_526dup (p.Gly176fs)
|
|
|
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.527-6dup
|
|
|
NM_000288.4(PEX7):c.52dup (p.His18fs)
|
|
|
NM_000288.4(PEX7):c.530A>G (p.Asp177Gly)
|
|
|
NM_000288.4(PEX7):c.532C>A (p.Gln178Lys)
|
|
|
NM_000288.4(PEX7):c.533A>G (p.Gln178Arg)
|
|
|
NM_000288.4(PEX7):c.539T>C (p.Leu180Pro)
|
|
|
NM_000288.4(PEX7):c.53A>G (p.His18Arg)
|
rs2115122498
|
|
NM_000288.4(PEX7):c.542G>T (p.Arg181Ile)
|
|
|
NM_000288.4(PEX7):c.546_547del (p.Ile182fs)
|
rs2115216632
|
|
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
|
|
|
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.568G>A (p.Val190Ile)
|
|
|
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.57_67dup (p.Glu23fs)
|
rs2115122515
|
|
NM_000288.4(PEX7):c.587C>T (p.Ala196Val)
|
rs2115216804
|
|
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.618G>T (p.Trp206Cys)
|
|
|
NM_000288.4(PEX7):c.620G>C (p.Cys207Ser)
|
|
|
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+1G>A
|
rs1057516989
|
|
NM_000288.4(PEX7):c.633+20C>T
|
|
|
NM_000288.4(PEX7):c.633+3A>G
|
|
|
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.641T>C (p.Leu214Pro)
|
rs1554333880
|
|
NM_000288.4(PEX7):c.648C>G (p.Thr216=)
|
rs754226264
|
|
NM_000288.4(PEX7):c.652del (p.Ala218fs)
|
|
|
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.67G>C (p.Glu23Gln)
|
|
|
NM_000288.4(PEX7):c.683dup (p.Leu228fs)
|
|
|
NM_000288.4(PEX7):c.690T>C (p.Asn230=)
|
rs762666939
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
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.704T>C (p.Val235Ala)
|
|
|
NM_000288.4(PEX7):c.705G>T (p.Val235=)
|
|
|
NM_000288.4(PEX7):c.716T>C (p.Leu239Pro)
|
rs754346713
|
|
NM_000288.4(PEX7):c.717T>A (p.Leu239=)
|
|
|
NM_000288.4(PEX7):c.72C>A (p.Phe24Leu)
|
|
|
NM_000288.4(PEX7):c.72C>T (p.Phe24=)
|
rs1774100078
|
|
NM_000288.4(PEX7):c.730G>T (p.Ala244Ser)
|
rs375091907
|
|
NM_000288.4(PEX7):c.733A>G (p.Ile245Val)
|
rs750815894
|
|
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe)
|
rs750815894
|
|
NM_000288.4(PEX7):c.736_747+17del
|
rs1057517257
|
|
NM_000288.4(PEX7):c.737G>T (p.Arg246Met)
|
rs780186421
|
|
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+17del
|
rs2115224706
|
|
NM_000288.4(PEX7):c.747+18C>T
|
|
|
NM_000288.4(PEX7):c.747+1G>A
|
|
|
NM_000288.4(PEX7):c.747+20_747+24del
|
rs199624608
|
|
NM_000288.4(PEX7):c.747+2T>A
|
|
|
NM_000288.4(PEX7):c.747+5G>A
|
rs1775145774
|
|
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.748-2A>G
|
rs778862698
|
|
NM_000288.4(PEX7):c.748-4G>T
|
rs74658757
|
|
NM_000288.4(PEX7):c.748-5del
|
rs563675060
|
|
NM_000288.4(PEX7):c.748-5dup
|
rs563675060
|
|
NM_000288.4(PEX7):c.748-6T>G
|
|
|
NM_000288.4(PEX7):c.748-6_748-5dup
|
|
|
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)
|
rs61753236
|
|
NM_000288.4(PEX7):c.751dup (p.Ser251fs)
|
|
|
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.76C>G (p.Pro26Ala)
|
|
|
NM_000288.4(PEX7):c.772C>T (p.Leu258=)
|
|
|
NM_000288.4(PEX7):c.777C>G (p.Ala259=)
|
rs2115228915
|
|
NM_000288.4(PEX7):c.778T>A (p.Ser260Thr)
|
|
|
NM_000288.4(PEX7):c.77C>G (p.Pro26Arg)
|
|
|
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.797C>T (p.Thr266Ile)
|
rs1452611618
|
|
NM_000288.4(PEX7):c.800T>C (p.Val267Ala)
|
|
|
NM_000288.4(PEX7):c.803+14dup
|
rs777087989
|
|
NM_000288.4(PEX7):c.803+20A>C
|
|
|
NM_000288.4(PEX7):c.803+5A>C
|
|
|
NM_000288.4(PEX7):c.803+9G>A
|
|
|
NM_000288.4(PEX7):c.803+9_803+10del
|
rs2115229196
|
|
NM_000288.4(PEX7):c.803G>C (p.Arg268Thr)
|
|
|
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.818C>G (p.Ser273Ter)
|
|
|
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.830C>G (p.Ser277Cys)
|
|
|
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe)
|
rs1775685342
|
|
NM_000288.4(PEX7):c.848A>C (p.Glu283Ala)
|
rs2115273002
|
|
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.858_867del (p.Glu287fs)
|
|
|
NM_000288.4(PEX7):c.85C>G (p.Pro29Ala)
|
|
|
NM_000288.4(PEX7):c.860_861del (p.Glu287fs)
|
rs2115273041
|
|
NM_000288.4(PEX7):c.861G>A (p.Glu287=)
|
|
|
NM_000288.4(PEX7):c.870T>C (p.Cys290=)
|
|
|
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)
|
rs267608257
|
|
NM_000288.4(PEX7):c.876A>G (p.Leu292=)
|
|
|
NM_000288.4(PEX7):c.879C>A (p.Asp293Glu)
|
|
|
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.883A>G (p.Ser295Gly)
|
|
|
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+5C>T
|
|
|
NM_000288.4(PEX7):c.903+7G>T
|
rs1227993935
|
|
NM_000288.4(PEX7):c.903+8A>T
|
|
|
NM_000288.4(PEX7):c.904-10del
|
|
|
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.911A>T (p.Asp304Val)
|
|
|
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe)
|
rs267608258
|
|
NM_000288.4(PEX7):c.91C>T (p.Arg31Cys)
|
|
|
NM_000288.4(PEX7):c.934A>G (p.Lys312Glu)
|
rs2115300138
|
|
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.964C>A (p.Pro322Thr)
|
|
|
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp)
|
rs1184131500
|
|
NM_000288.4(PEX7):c.969T>A (p.Ala323=)
|
|
|
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg)
|
rs988988279
|
|
NM_000288.4(PEX7):c.9G>A (p.Ala3=)
|
rs1475959844
|
|
NM_000318.3(PEX2):c.101G>C (p.Trp34Ser)
|
|
|
NM_000318.3(PEX2):c.108G>A (p.Gln36=)
|
rs113065004
|
|
NM_000318.3(PEX2):c.109T>A (p.Phe37Ile)
|
|
|
NM_000318.3(PEX2):c.10A>T (p.Arg4Ter)
|
rs1297517393
|
|
NM_000318.3(PEX2):c.111T>C (p.Phe37=)
|
|
|
NM_000318.3(PEX2):c.113del (p.Thr38fs)
|
|
|
NM_000318.3(PEX2):c.114T>G (p.Thr38=)
|
rs2132044827
|
|
NM_000318.3(PEX2):c.115C>T (p.Gln39Ter)
|
rs61752118
|
|
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg)
|
rs1427212561
|
|
NM_000318.3(PEX2):c.118del (p.Cys40fs)
|
|
|
NM_000318.3(PEX2):c.120C>T (p.Cys40=)
|
rs1586070272
|
|
NM_000318.3(PEX2):c.122T>A (p.Phe41Tyr)
|
|
|
NM_000318.3(PEX2):c.123T>A (p.Phe41Leu)
|
rs2132044807
|
|
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.140G>A (p.Gly47Glu)
|
|
|
NM_000318.3(PEX2):c.142C>G (p.Leu48Val)
|
|
|
NM_000318.3(PEX2):c.142C>T (p.Leu48=)
|
|
|
NM_000318.3(PEX2):c.143T>C (p.Leu48Pro)
|
|
|
NM_000318.3(PEX2):c.144G>T (p.Leu48=)
|
|
|
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer)
|
rs2132044757
|
|
NM_000318.3(PEX2):c.147A>G (p.Leu49=)
|
rs1257241388
|
|
NM_000318.3(PEX2):c.148G>T (p.Ala50Ser)
|
|
|
NM_000318.3(PEX2):c.159_160delinsAT (p.Pro54Ser)
|
|
|
NM_000318.3(PEX2):c.15A>G (p.Lys5=)
|
rs2132045059
|
|
NM_000318.3(PEX2):c.15dup (p.Glu6fs)
|
|
|
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.166G>A (p.Val56Met)
|
rs2132044712
|
|
NM_000318.3(PEX2):c.16G>C (p.Glu6Gln)
|
|
|
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.183G>A (p.Trp61Ter)
|
|
|
NM_000318.3(PEX2):c.18G>A (p.Glu6=)
|
rs2132045054
|
|
NM_000318.3(PEX2):c.190T>A (p.Leu64Met)
|
|
|
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.19A>C (p.Asn7His)
|
rs576066189
|
|
NM_000318.3(PEX2):c.201C>T (p.Phe67=)
|
|
|
NM_000318.3(PEX2):c.207C>A (p.Ile69=)
|
|
|
NM_000318.3(PEX2):c.218del (p.Asn73fs)
|
rs1586070089
|
|
NM_000318.3(PEX2):c.21T>C (p.Asn7=)
|
|
|
NM_000318.3(PEX2):c.220dup (p.Ala74fs)
|
rs777974798
|
|
NM_000318.3(PEX2):c.221C>G (p.Ala74Gly)
|
rs1305420150
|
|
NM_000318.3(PEX2):c.221C>T (p.Ala74Val)
|
|
|
NM_000318.3(PEX2):c.22G>T (p.Ala8Ser)
|
rs2132045041
|
|
NM_000318.3(PEX2):c.231A>G (p.Gly77=)
|
|
|
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)
|
rs1586070043
|
|
NM_000318.3(PEX2):c.234G>A (p.Gln78=)
|
|
|
NM_000318.3(PEX2):c.238G>A (p.Val80Ile)
|
|
|
NM_000318.3(PEX2):c.247A>G (p.Ile83Val)
|
|
|
NM_000318.3(PEX2):c.248T>C (p.Ile83Thr)
|
rs1806923661
|
|
NM_000318.3(PEX2):c.24G>T (p.Ala8=)
|
|
|
NM_000318.3(PEX2):c.24_25del (p.Lys9fs)
|
rs2132045027
|
|
NM_000318.3(PEX2):c.263A>G (p.Asp88Gly)
|
|
|
NM_000318.3(PEX2):c.265T>A (p.Phe89Ile)
|
rs1463397236
|
|
NM_000318.3(PEX2):c.268T>A (p.Ser90Thr)
|
|
|
NM_000318.3(PEX2):c.272dup (p.Pro91_Asn92insTer)
|
|
|
NM_000318.3(PEX2):c.275A>C (p.Asn92Thr)
|
rs2132044452
|
|
NM_000318.3(PEX2):c.278T>C (p.Leu93Pro)
|
|
|
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)
|
rs61752122
|
|
NM_000318.3(PEX2):c.280A>G (p.Arg94Gly)
|
|
|
NM_000318.3(PEX2):c.285T>C (p.Tyr95=)
|
rs202204148
|
|
NM_000318.3(PEX2):c.285T>G (p.Tyr95Ter)
|
|
|
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter)
|
rs2132044384
|
|
NM_000318.3(PEX2):c.298A>G (p.Lys100Glu)
|
|
|
NM_000318.3(PEX2):c.310dup (p.Ile104fs)
|
rs1235008965
|
|
NM_000318.3(PEX2):c.312C>A (p.Ile104=)
|
rs1242924229
|
|
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
|
|
|
NM_000318.3(PEX2):c.318T>A (p.Tyr106Ter)
|
|
|
NM_000318.3(PEX2):c.320C>T (p.Ala107Val)
|
rs2132044318
|
|
NM_000318.3(PEX2):c.320_326del (p.Ala107fs)
|
|
|
NM_000318.3(PEX2):c.324T>A (p.Val108=)
|
|
|
NM_000318.3(PEX2):c.325dup (p.Cys109fs)
|
rs1052655986
|
|
NM_000318.3(PEX2):c.32C>A (p.Ala11Glu)
|
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000318.3(PEX2):c.342G>A (p.Arg114=)
|
rs778787558
|
|
NM_000318.3(PEX2):c.344G>C (p.Trp115Ser)
|
|
|
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del)
|
rs1554584507
|
|
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)
|
rs1174648906
|
|
NM_000318.3(PEX2):c.351A>G (p.Glu117=)
|
rs2132044225
|
|
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)
|
rs1554584505
|
|
NM_000318.3(PEX2):c.356G>A (p.Arg119Gln)
|
|
|
NM_000318.3(PEX2):c.357A>C (p.Arg119=)
|
rs767740481
|
|
NM_000318.3(PEX2):c.361T>C (p.Tyr121His)
|
rs1201697415
|
|
NM_000318.3(PEX2):c.362A>G (p.Tyr121Cys)
|
|
|
NM_000318.3(PEX2):c.365A>T (p.Asp122Val)
|
|
|
NM_000318.3(PEX2):c.368T>C (p.Leu123Ser)
|
rs2132044164
|
|
NM_000318.3(PEX2):c.369G>A (p.Leu123=)
|
|
|
NM_000318.3(PEX2):c.369del (p.Leu123fs)
|
|
|
NM_000318.3(PEX2):c.373C>A (p.Arg125=)
|
rs61752124
|
|
NM_000318.3(PEX2):c.373C>G (p.Arg125Gly)
|
|
|
NM_000318.3(PEX2):c.375A>G (p.Arg125=)
|
|
|
NM_000318.3(PEX2):c.377A>G (p.Asn126Ser)
|
rs2132044121
|
|
NM_000318.3(PEX2):c.381T>C (p.His127=)
|
rs1806915769
|
|
NM_000318.3(PEX2):c.384T>C (p.His128=)
|
|
|
NM_000318.3(PEX2):c.386T>A (p.Leu129Ter)
|
rs1224224276
|
|
NM_000318.3(PEX2):c.387_396dup (p.Gly133fs)
|
rs2132044079
|
|
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.39_40del (p.Arg13fs)
|
|
|
NM_000318.3(PEX2):c.402A>G (p.Lys134=)
|
rs953517125
|
|
NM_000318.3(PEX2):c.405C>A (p.Val135=)
|
|
|
NM_000318.3(PEX2):c.410A>G (p.Gln137Arg)
|
|
|
NM_000318.3(PEX2):c.412T>A (p.Cys138Ser)
|
rs2132044038
|
|
NM_000318.3(PEX2):c.414_426dup (p.Ile143fs)
|
|
|
NM_000318.3(PEX2):c.415G>T (p.Val139Leu)
|
rs1806914302
|
|
NM_000318.3(PEX2):c.416_417del (p.Val139fs)
|
rs2132044032
|
|
NM_000318.3(PEX2):c.429T>A (p.Ile143=)
|
|
|
NM_000318.3(PEX2):c.429T>G (p.Ile143Met)
|
|
|
NM_000318.3(PEX2):c.436T>C (p.Leu146=)
|
rs2132044010
|
|
NM_000318.3(PEX2):c.437T>C (p.Leu146Ser)
|
|
|
NM_000318.3(PEX2):c.43C>T (p.Leu15=)
|
|
|
NM_000318.3(PEX2):c.44T>C (p.Leu15Pro)
|
|
|
NM_000318.3(PEX2):c.450G>T (p.Gly150=)
|
rs2132043975
|
|
NM_000318.3(PEX2):c.452T>C (p.Leu151Pro)
|
rs2132043971
|
|
NM_000318.3(PEX2):c.453G>A (p.Leu151=)
|
|
|
NM_000318.3(PEX2):c.455_456insG (p.Ile152fs)
|
rs2132043966
|
|
NM_000318.3(PEX2):c.45A>C (p.Leu15=)
|
|
|
NM_000318.3(PEX2):c.465G>A (p.Leu155=)
|
|
|
NM_000318.3(PEX2):c.470del (p.Phe157fs)
|
|
|
NM_000318.3(PEX2):c.475C>T (p.Gln159Ter)
|
|
|
NM_000318.3(PEX2):c.488T>G (p.Phe163Cys)
|
|
|
NM_000318.3(PEX2):c.489T>C (p.Phe163=)
|
|
|
NM_000318.3(PEX2):c.494C>A (p.Thr165Asn)
|
|
|
NM_000318.3(PEX2):c.495T>A (p.Thr165=)
|
|
|
NM_000318.3(PEX2):c.495T>C (p.Thr165=)
|
|
|
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter)
|
rs1586069639
|
|
NM_000318.3(PEX2):c.497T>G (p.Leu166Trp)
|
|
|
NM_000318.3(PEX2):c.500C>G (p.Thr167Arg)
|
|
|
NM_000318.3(PEX2):c.500C>T (p.Thr167Ile)
|
|
|
NM_000318.3(PEX2):c.502G>T (p.Glu168Ter)
|
|
|
NM_000318.3(PEX2):c.505C>G (p.Arg169Gly)
|
rs752394595
|
|
NM_000318.3(PEX2):c.505C>T (p.Arg169Cys)
|
|
|
NM_000318.3(PEX2):c.506G>A (p.Arg169His)
|
|
|
NM_000318.3(PEX2):c.506G>T (p.Arg169Leu)
|
rs564144139
|
|
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.524del (p.Ser175fs)
|
rs2132043781
|
|
NM_000318.3(PEX2):c.526G>A (p.Val176Ile)
|
|
|
NM_000318.3(PEX2):c.549_550del (p.Ile183fs)
|
rs756891007
|
|
NM_000318.3(PEX2):c.54C>T (p.Ser18=)
|
rs545785018
|
|
NM_000318.3(PEX2):c.550_551delinsCT (p.Cys184Leu)
|
rs2132043720
|
|
NM_000318.3(PEX2):c.550_551insC (p.Cys184fs)
|
rs2132043724
|
|
NM_000318.3(PEX2):c.550del (p.Cys184fs)
|
rs63545361
|
|
NM_000318.3(PEX2):c.555A>G (p.Glu185=)
|
|
|
NM_000318.3(PEX2):c.567A>G (p.Glu189=)
|
|
|
NM_000318.3(PEX2):c.571A>C (p.Met191Leu)
|
rs747946744
|
|
NM_000318.3(PEX2):c.571del (p.Tyr190_Met191insTer)
|
rs2132043667
|
|
NM_000318.3(PEX2):c.573G>C (p.Met191Ile)
|
rs2132043654
|
|
NM_000318.3(PEX2):c.575A>G (p.Asn192Ser)
|
|
|
NM_000318.3(PEX2):c.57G>A (p.Gln19=)
|
rs2132044973
|
|
NM_000318.3(PEX2):c.584T>C (p.Leu195Pro)
|
|
|
NM_000318.3(PEX2):c.585T>C (p.Leu195=)
|
|
|
NM_000318.3(PEX2):c.594T>C (p.His198=)
|
|
|
NM_000318.3(PEX2):c.5C>A (p.Ala2Asp)
|
|
|
NM_000318.3(PEX2):c.600T>C (p.Phe200=)
|
|
|
NM_000318.3(PEX2):c.601G>A (p.Ala201Thr)
|
|
|
NM_000318.3(PEX2):c.603T>C (p.Ala201=)
|
|
|
NM_000318.3(PEX2):c.604G>C (p.Glu202Gln)
|
|
|
NM_000318.3(PEX2):c.606A>T (p.Glu202Asp)
|
rs376974246
|
|
NM_000318.3(PEX2):c.607T>C (p.Phe203Leu)
|
rs1806904326
|
|
NM_000318.3(PEX2):c.608T>G (p.Phe203Cys)
|
rs2132043579
|
|
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
|
|
|
NM_000318.3(PEX2):c.614T>G (p.Ile205Ser)
|
|
|
NM_000318.3(PEX2):c.618del (p.Leu207fs)
|
rs2132043567
|
|
NM_000318.3(PEX2):c.619C>G (p.Leu207Val)
|
rs143986865
|
|
NM_000318.3(PEX2):c.621C>T (p.Leu207=)
|
|
|
NM_000318.3(PEX2):c.627A>G (p.Pro209=)
|
|
|
NM_000318.3(PEX2):c.628C>T (p.Leu210Phe)
|
rs1420998615
|
|
NM_000318.3(PEX2):c.62A>G (p.Asp21Gly)
|
rs1484917700
|
|
NM_000318.3(PEX2):c.632T>C (p.Ile211Thr)
|
|
|
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.657G>C (p.Lys219Asn)
|
rs1806902121
|
|
NM_000318.3(PEX2):c.671G>A (p.Cys224Tyr)
|
|
|
NM_000318.3(PEX2):c.673A>G (p.Ile225Val)
|
|
|
NM_000318.3(PEX2):c.678T>C (p.Pro226=)
|
rs2132043403
|
|
NM_000318.3(PEX2):c.681T>C (p.Leu227=)
|
|
|
NM_000318.3(PEX2):c.685G>C (p.Gly229Arg)
|
|
|
NM_000318.3(PEX2):c.686G>A (p.Gly229Asp)
|
rs2132043367
|
|
NM_000318.3(PEX2):c.688G>A (p.Ala230Thr)
|
rs1475641448
|
|
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.694A>G (p.Asn232Asp)
|
rs1806899956
|
|
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.715A>T (p.Thr239Ser)
|
|
|
NM_000318.3(PEX2):c.717C>T (p.Thr239=)
|
rs2132043284
|
|
NM_000318.3(PEX2):c.718A>C (p.Ser240Arg)
|
|
|
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.733G>C (p.Ala245Pro)
|
rs112108739
|
|
NM_000318.3(PEX2):c.735T>C (p.Ala245=)
|
|
|
NM_000318.3(PEX2):c.736C>G (p.Leu246Val)
|
rs757764014
|
|
NM_000318.3(PEX2):c.737T>C (p.Leu246Pro)
|
|
|
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.752C>G (p.Pro251Arg)
|
|
|
NM_000318.3(PEX2):c.752C>T (p.Pro251Leu)
|
|
|
NM_000318.3(PEX2):c.756C>T (p.Thr252=)
|
|
|
NM_000318.3(PEX2):c.757A>G (p.Met253Val)
|
|
|
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.766A>G (p.Thr256Ala)
|
rs1220452895
|
|
NM_000318.3(PEX2):c.76A>C (p.Asn26His)
|
rs977528373
|
|
NM_000318.3(PEX2):c.771A>T (p.Ile257=)
|
rs1586069200
|
|
NM_000318.3(PEX2):c.773G>A (p.Gly258Glu)
|
rs1428046580
|
|
NM_000318.3(PEX2):c.783T>C (p.His261=)
|
rs1586069185
|
|
NM_000318.3(PEX2):c.784A>G (p.Ile262Val)
|
rs1806895422
|
|
NM_000318.3(PEX2):c.78C>G (p.Asn26Lys)
|
|
|
NM_000318.3(PEX2):c.78_80del (p.Asn26del)
|
rs1806932884
|
|
NM_000318.3(PEX2):c.793_797del (p.Tyr265fs)
|
rs2132043053
|
|
NM_000318.3(PEX2):c.794A>G (p.Tyr265Cys)
|
rs2132043073
|
|
NM_000318.3(PEX2):c.79_80del (p.Lys27fs)
|
rs1261498405
|
|
NM_000318.3(PEX2):c.809G>C (p.Ser270Thr)
|
|
|
NM_000318.3(PEX2):c.825C>T (p.Asp275=)
|
rs367649632
|
|
NM_000318.3(PEX2):c.828G>A (p.Val276=)
|
|
|
NM_000318.3(PEX2):c.82G>A (p.Ala28Thr)
|
|
|
NM_000318.3(PEX2):c.830A>G (p.Tyr277Cys)
|
|
|
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.852C>T (p.Gly284=)
|
rs2132042925
|
|
NM_000318.3(PEX2):c.854C>G (p.Thr285Arg)
|
|
|
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.866G>A (p.Ser289Asn)
|
|
|
NM_000318.3(PEX2):c.868C>T (p.Leu290=)
|
rs2132042893
|
|
NM_000318.3(PEX2):c.875C>T (p.Pro292Leu)
|
rs2132042879
|
|
NM_000318.3(PEX2):c.881A>C (p.Lys294Thr)
|
rs2132042875
|
|
NM_000318.3(PEX2):c.884C>T (p.Ser295Leu)
|
|
|
NM_000318.3(PEX2):c.885A>G (p.Ser295=)
|
rs886332712
|
|
NM_000318.3(PEX2):c.891C>G (p.Ile297Met)
|
|
|
NM_000318.3(PEX2):c.897G>A (p.Met299Ile)
|
rs1806890153
|
|
NM_000318.3(PEX2):c.90G>A (p.Glu30=)
|
rs777639216
|
|
NM_000318.3(PEX2):c.911C>T (p.Ala304Val)
|
|
|
NM_000318.3(PEX2):c.912T>C (p.Ala304=)
|
rs1034467919
|
|
NM_000318.3(PEX2):c.91C>T (p.Gln31Ter)
|
rs149287302
|
|
NM_000318.3(PEX2):c.92A>C (p.Gln31Pro)
|
rs1806931527
|
|
NM_000318.3(PEX2):c.94C>T (p.Leu32=)
|
|
|
NM_000318.3(PEX2):c.96A>G (p.Leu32=)
|
rs754405926
|
|
NM_000466.3(PEX1):c.1012_1016del (p.Leu338fs)
|
rs2116243800
|
|
NM_000466.3(PEX1):c.1014A>G (p.Leu338=)
|
rs764541484
|
|
NM_000466.3(PEX1):c.1025del (p.Lys342fs)
|
|
|
NM_000466.3(PEX1):c.1027C>T (p.Gln343Ter)
|
|
|
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.103C>T (p.Leu35Phe)
|
|
|
NM_000466.3(PEX1):c.1048C>T (p.Gln350Ter)
|
|
|
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.1060T>C (p.Ser354Pro)
|
|
|
NM_000466.3(PEX1):c.1074G>A (p.Glu358=)
|
|
|
NM_000466.3(PEX1):c.1076del (p.Lys359fs)
|
rs1057517465
|
|
NM_000466.3(PEX1):c.1077G>A (p.Lys359=)
|
rs138905930
|
|
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn)
|
rs138905930
|
|
NM_000466.3(PEX1):c.1081A>G (p.Met361Val)
|
rs746906648
|
|
NM_000466.3(PEX1):c.1086A>C (p.Ser362=)
|
|
|
NM_000466.3(PEX1):c.108G>A (p.Val36=)
|
rs2116298440
|
|
NM_000466.3(PEX1):c.1092A>G (p.Pro364=)
|
rs2116243378
|
|
NM_000466.3(PEX1):c.1096G>C (p.Asp366His)
|
|
|
NM_000466.3(PEX1):c.1096G>T (p.Asp366Tyr)
|
|
|
NM_000466.3(PEX1):c.1099del (p.Gln367fs)
|
rs1403870448
|
|
NM_000466.3(PEX1):c.1104A>C (p.Lys368Asn)
|
rs2116243334
|
|
NM_000466.3(PEX1):c.1108del (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1108dup (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1109T>C (p.Ile370Thr)
|
rs1562866173
|
|
NM_000466.3(PEX1):c.1111A>G (p.Arg371Gly)
|
|
|
NM_000466.3(PEX1):c.1116A>G (p.Ser372=)
|
|
|
NM_000466.3(PEX1):c.1125T>C (p.Asn375=)
|
rs1585254314
|
|
NM_000466.3(PEX1):c.1131del (p.Asp378fs)
|
rs886043479
|
|
NM_000466.3(PEX1):c.1135G>A (p.Glu379Lys)
|
|
|
NM_000466.3(PEX1):c.1141G>T (p.Ala381Ser)
|
rs540780825
|
|
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp)
|
rs73404416
|
|
NM_000466.3(PEX1):c.1142C>G (p.Ala381Gly)
|
|
|
NM_000466.3(PEX1):c.1142C>T (p.Ala381Val)
|
|
|
NM_000466.3(PEX1):c.1152A>G (p.Leu384=)
|
rs776933950
|
|
NM_000466.3(PEX1):c.1156G>C (p.Val386Leu)
|
rs2116242910
|
|
NM_000466.3(PEX1):c.1161C>A (p.Val387=)
|
|
|
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)
|
rs1585254187
|
|
NM_000466.3(PEX1):c.1164G>A (p.Trp388Ter)
|
|
|
NM_000466.3(PEX1):c.1170A>G (p.Gly390=)
|
|
|
NM_000466.3(PEX1):c.1171_1183del (p.Leu391fs)
|
|
|
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly)
|
rs1792836885
|
|
NM_000466.3(PEX1):c.1177G>A (p.Glu393Lys)
|
rs2116242745
|
|
NM_000466.3(PEX1):c.1180T>C (p.Leu394=)
|
rs1202226565
|
|
NM_000466.3(PEX1):c.1184A>T (p.Asn395Ile)
|
rs1008956990
|
|
NM_000466.3(PEX1):c.1185C>T (p.Asn395=)
|
|
|
NM_000466.3(PEX1):c.1190C>T (p.Ala397Val)
|
rs2116242607
|
|
NM_000466.3(PEX1):c.1193T>A (p.Ile398Asn)
|
|
|
NM_000466.3(PEX1):c.119A>G (p.His40Arg)
|
|
|
NM_000466.3(PEX1):c.1208del (p.Asn403fs)
|
rs1376037318
|
|
NM_000466.3(PEX1):c.1214A>C (p.Glu405Ala)
|
|
|
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.1229G>A (p.Gly410Glu)
|
rs2116242366
|
|
NM_000466.3(PEX1):c.1230G>A (p.Gly410=)
|
rs539382251
|
|
NM_000466.3(PEX1):c.1233A>G (p.Lys411=)
|
|
|
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+15del
|
|
|
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.1239G>A (p.Trp413Ter)
|
|
|
NM_000466.3(PEX1):c.1240-10del
|
rs1298492061
|
|
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.1279C>A (p.His427Asn)
|
rs2116221515
|
|
NM_000466.3(PEX1):c.1282G>A (p.Ala428Thr)
|
|
|
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.130-2A>T
|
rs1585260993
|
|
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.1323T>G (p.Ile441Met)
|
rs2116221247
|
|
NM_000466.3(PEX1):c.1326A>G (p.Pro442=)
|
|
|
NM_000466.3(PEX1):c.1327A>G (p.Arg443Gly)
|
rs2116221209
|
|
NM_000466.3(PEX1):c.1331C>T (p.Ser444Phe)
|
rs1792597851
|
|
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.1342C>T (p.Gln448Ter)
|
rs1467651370
|
|
NM_000466.3(PEX1):c.1343A>T (p.Gln448Leu)
|
|
|
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.1354A>C (p.Asn452His)
|
rs2116220996
|
|
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+15A>G
|
|
|
NM_000466.3(PEX1):c.1359+17A>G
|
|
|
NM_000466.3(PEX1):c.1359+1G>C
|
|
|
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.1375G>T (p.Glu459Ter)
|
|
|
NM_000466.3(PEX1):c.1377A>G (p.Glu459=)
|
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.1393_1394del (p.Val465fs)
|
rs1164941642
|
|
NM_000466.3(PEX1):c.1396T>C (p.Phe466Leu)
|
|
|
NM_000466.3(PEX1):c.1397T>G (p.Phe466Cys)
|
rs1040716320
|
|
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.1411C>T (p.Gln471Ter)
|
rs758402265
|
|
NM_000466.3(PEX1):c.1413G>A (p.Gln471=)
|
rs1354951609
|
|
NM_000466.3(PEX1):c.1415A>G (p.Gln472Arg)
|
|
|
NM_000466.3(PEX1):c.1417T>C (p.Ser473Pro)
|
rs1474508557
|
|
NM_000466.3(PEX1):c.141A>C (p.Ile47=)
|
|
|
NM_000466.3(PEX1):c.1422T>C (p.Thr474=)
|
rs1792471058
|
|
NM_000466.3(PEX1):c.1422_1425del (p.Thr475fs)
|
|
|
NM_000466.3(PEX1):c.1428C>A (p.Thr476=)
|
|
|
NM_000466.3(PEX1):c.1428C>T (p.Thr476=)
|
|
|
NM_000466.3(PEX1):c.1429A>G (p.Met477Val)
|
|
|
NM_000466.3(PEX1):c.1432C>T (p.Leu478Phe)
|
|
|
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.1445_1446insTGA (p.Ile482_Ser483insGlu)
|
rs2116209401
|
|
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp)
|
rs1793080526
|
|
NM_000466.3(PEX1):c.1455A>G (p.Glu485=)
|
|
|
NM_000466.3(PEX1):c.1456G>T (p.Glu486Ter)
|
rs2116209376
|
|
NM_000466.3(PEX1):c.1473A>G (p.Glu491=)
|
|
|
NM_000466.3(PEX1):c.1476T>G (p.Thr492=)
|
rs1792468652
|
|
NM_000466.3(PEX1):c.147_149del (p.Val50del)
|
|
|
NM_000466.3(PEX1):c.1483+18T>A
|
|
|
NM_000466.3(PEX1):c.1483+18T>G
|
|
|
NM_000466.3(PEX1):c.1483+1G>A
|
rs1585244586
|
|
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>G
|
|
|
NM_000466.3(PEX1):c.1484-4A>T
|
|
|
NM_000466.3(PEX1):c.1484-7T>G
|
|
|
NM_000466.3(PEX1):c.1489A>C (p.Lys497Gln)
|
|
|
NM_000466.3(PEX1):c.1490A>G (p.Lys497Arg)
|
|
|
NM_000466.3(PEX1):c.1494A>T (p.Glu498Asp)
|
|
|
NM_000466.3(PEX1):c.1501C>T (p.Leu501=)
|
|
|
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)
|
rs786204743
|
|
NM_000466.3(PEX1):c.1502_1513del (p.Leu501_Val504del)
|
|
|
NM_000466.3(PEX1):c.1503G>C (p.Leu501=)
|
|
|
NM_000466.3(PEX1):c.1518T>C (p.Ser506=)
|
rs756375656
|
|
NM_000466.3(PEX1):c.1522dup (p.Glu508fs)
|
rs1057517463
|
|
NM_000466.3(PEX1):c.1524A>G (p.Glu508=)
|
rs2116205422
|
|
NM_000466.3(PEX1):c.1526A>C (p.Lys509Thr)
|
|
|
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)
|
rs754983126
|
|
NM_000466.3(PEX1):c.1535A>T (p.Asp512Val)
|
|
|
NM_000466.3(PEX1):c.1539A>G (p.Lys513=)
|
|
|
NM_000466.3(PEX1):c.154A>G (p.Ser52Gly)
|
|
|
NM_000466.3(PEX1):c.1552T>C (p.Leu518=)
|
rs2116205269
|
|
NM_000466.3(PEX1):c.1554G>A (p.Leu518=)
|
|
|
NM_000466.3(PEX1):c.1562A>G (p.Asn521Ser)
|
|
|
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.1583_1587del (p.Ile528fs)
|
|
|
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+1G>A
|
rs1057517469
|
|
NM_000466.3(PEX1):c.1587+1G>T
|
|
|
NM_000466.3(PEX1):c.1587+6A>G
|
|
|
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.1588-7A>G
|
|
|
NM_000466.3(PEX1):c.1590C>A (p.Val530=)
|
|
|
NM_000466.3(PEX1):c.1600C>G (p.Pro534Ala)
|
rs1419015282
|
|
NM_000466.3(PEX1):c.1600C>T (p.Pro534Ser)
|
rs1419015282
|
|
NM_000466.3(PEX1):c.1601C>G (p.Pro534Arg)
|
rs983690128
|
|
NM_000466.3(PEX1):c.1603A>G (p.Met535Val)
|
|
|
NM_000466.3(PEX1):c.1605G>A (p.Met535Ile)
|
rs2116195142
|
|
NM_000466.3(PEX1):c.1611A>G (p.Lys537=)
|
rs1209882593
|
|
NM_000466.3(PEX1):c.1615G>A (p.Glu539Lys)
|
|
|
NM_000466.3(PEX1):c.1620C>T (p.Asn540=)
|
|
|
NM_000466.3(PEX1):c.1623T>G (p.Ser541Arg)
|
|
|
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu)
|
rs1397315670
|
|
NM_000466.3(PEX1):c.1639A>G (p.Ile547Val)
|
|
|
NM_000466.3(PEX1):c.1645C>T (p.Pro549Ser)
|
rs1053943553
|
|
NM_000466.3(PEX1):c.1646C>G (p.Pro549Arg)
|
rs751131750
|
|
NM_000466.3(PEX1):c.1647T>A (p.Pro549=)
|
|
|
NM_000466.3(PEX1):c.1652dup (p.Leu551fs)
|
|
|
NM_000466.3(PEX1):c.1657C>A (p.Leu553Met)
|
|
|
NM_000466.3(PEX1):c.1661G>A (p.Ser554Asn)
|
|
|
NM_000466.3(PEX1):c.1663T>C (p.Ser555Pro)
|
rs773827098
|
|
NM_000466.3(PEX1):c.1668G>C (p.Leu556Phe)
|
rs1792345170
|
|
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+1G>A
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1670+1G>T
|
rs1057517490
|
|
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.1671-5dup
|
rs1792230930
|
|
NM_000466.3(PEX1):c.1671_1672del
|
|
|
NM_000466.3(PEX1):c.1672G>T (p.Gly558Ter)
|
rs2116181877
|
|
NM_000466.3(PEX1):c.1679A>G (p.Asn560Ser)
|
rs2116181845
|
|
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.1702G>C (p.Glu568Gln)
|
|
|
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.1716_1717del (p.His572fs)
|
rs786204606
|
|
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.1727dup (p.Arg577fs)
|
rs1585238595
|
|
NM_000466.3(PEX1):c.1728del (p.Arg577fs)
|
|
|
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.1741C>T (p.Arg581Trp)
|
|
|
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln)
|
rs370483961
|
|
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)
|
rs370483961
|
|
NM_000466.3(PEX1):c.1742_1756del (p.Arg581_Ser585del)
|
|
|
NM_000466.3(PEX1):c.1746G>A (p.Gln582=)
|
rs750015247
|
|
NM_000466.3(PEX1):c.1746G>C (p.Gln582His)
|
|
|
NM_000466.3(PEX1):c.174G>A (p.Leu58=)
|
|
|
NM_000466.3(PEX1):c.1754C>A (p.Ser585Tyr)
|
rs1792225580
|
|
NM_000466.3(PEX1):c.1763C>T (p.Ala588Val)
|
rs2116181053
|
|
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.1792del (p.Thr598fs)
|
rs886037783
|
|
NM_000466.3(PEX1):c.1793_1803+1del
|
rs2116180739
|
|
NM_000466.3(PEX1):c.17G>T (p.Arg6Leu)
|
rs1261327878
|
|
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.1804-12A>T
|
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.1817C>G (p.Ser606Ter)
|
rs1792186595
|
|
NM_000466.3(PEX1):c.1832C>T (p.Ala611Val)
|
rs2116176413
|
|
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.1834A>G (p.Ile612Val)
|
|
|
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)
|
rs1554372561
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.1851T>C (p.Phe617=)
|
rs762766482
|
|
NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter)
|
|
|
NM_000466.3(PEX1):c.1857A>G (p.Lys619=)
|
rs1393403749
|
|
NM_000466.3(PEX1):c.1867C>A (p.His623Asn)
|
rs1792183513
|
|
NM_000466.3(PEX1):c.1869T>C (p.His623=)
|
|
|
NM_000466.3(PEX1):c.1873G>C (p.Glu625Gln)
|
rs2116176145
|
|
NM_000466.3(PEX1):c.1875G>C (p.Glu625Asp)
|
rs775491706
|
|
NM_000466.3(PEX1):c.1877G>C (p.Arg626Thr)
|
rs1310822252
|
|
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.1886_1887del (p.Asp628_Cys629insTer)
|
rs1398892633
|
|
NM_000466.3(PEX1):c.1891del (p.Ala631fs)
|
rs2075434480
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
NM_000466.3(PEX1):c.1897del (p.Arg633fs)
|
|
|
NM_000466.3(PEX1):c.1898G>A (p.Arg633Gln)
|
|
|
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.1900+1G>A
|
rs770447891
|
|
NM_000466.3(PEX1):c.1900+2T>C
|
rs1562857198
|
|
NM_000466.3(PEX1):c.1900+4T>C
|
rs2116175794
|
|
NM_000466.3(PEX1):c.1901-14T>C
|
rs1792111444
|
|
NM_000466.3(PEX1):c.1901-17A>G
|
|
|
NM_000466.3(PEX1):c.1901-1G>T
|
|
|
NM_000466.3(PEX1):c.1901-2A>G
|
|
|
NM_000466.3(PEX1):c.1901-4T>C
|
rs2116166425
|
|
NM_000466.3(PEX1):c.1901-7T>C
|
|
|
NM_000466.3(PEX1):c.1901G>A (p.Gly634Glu)
|
|
|
NM_000466.3(PEX1):c.1908del (p.Arg636fs)
|
rs1057517478
|
|
NM_000466.3(PEX1):c.1916dup (p.Asn639fs)
|
rs2116166262
|
|
NM_000466.3(PEX1):c.1918A>T (p.Ile640Leu)
|
|
|
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1927dup (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1928C>A (p.Thr643Asn)
|
|
|
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.1933G>C (p.Glu645Gln)
|
|
|
NM_000466.3(PEX1):c.1935G>A (p.Glu645=)
|
|
|
NM_000466.3(PEX1):c.1946C>T (p.Ser649Leu)
|
|
|
NM_000466.3(PEX1):c.1947A>G (p.Ser649=)
|
|
|
NM_000466.3(PEX1):c.1955del (p.Val652fs)
|
rs2116165935
|
|
NM_000466.3(PEX1):c.1956G>A (p.Val652=)
|
|
|
NM_000466.3(PEX1):c.1962G>A (p.Met654Ile)
|
|
|
NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter)
|
rs2116165809
|
|
NM_000466.3(PEX1):c.1968A>C (p.Pro656=)
|
|
|
NM_000466.3(PEX1):c.1970C>T (p.Ser657Phe)
|
|
|
NM_000466.3(PEX1):c.1975G>A (p.Val659Ile)
|
rs193221288
|
|
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe)
|
rs193221288
|
|
NM_000466.3(PEX1):c.1977C>T (p.Val659=)
|
rs2116165660
|
|
NM_000466.3(PEX1):c.1978C>G (p.Leu660Val)
|
rs2116165647
|
|
NM_000466.3(PEX1):c.1987G>A (p.Asp663Asn)
|
|
|
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.199A>G (p.Ser67Gly)
|
|
|
NM_000466.3(PEX1):c.19C>T (p.Leu7=)
|
|
|
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)
|
rs1057517501
|
|
NM_000466.3(PEX1):c.2001dup (p.Ala668fs)
|
|
|
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.2012C>G (p.Pro671Arg)
|
|
|
NM_000466.3(PEX1):c.2014G>A (p.Ala672Thr)
|
|
|
NM_000466.3(PEX1):c.2015C>A (p.Ala672Asp)
|
rs897278975
|
|
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.2024A>G (p.Glu675Gly)
|
rs1792100189
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
NM_000466.3(PEX1):c.2037T>C (p.Ser679=)
|
|
|
NM_000466.3(PEX1):c.2039del (p.Pro680fs)
|
rs1269903353
|
|
NM_000466.3(PEX1):c.2044G>A (p.Ala682Thr)
|
rs2116165019
|
|
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.2050C>T (p.Gln684Ter)
|
|
|
NM_000466.3(PEX1):c.2059C>A (p.Arg687=)
|
rs138008298
|
|
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
|
|
|
NM_000466.3(PEX1):c.2060G>T (p.Arg687Leu)
|
|
|
NM_000466.3(PEX1):c.2067T>G (p.Ala689=)
|
rs2116164733
|
|
NM_000466.3(PEX1):c.2069A>G (p.His690Arg)
|
|
|
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+2T>C
|
rs1478905473
|
|
NM_000466.3(PEX1):c.2071+3A>G
|
rs1189294296
|
|
NM_000466.3(PEX1):c.2071+9A>G
|
rs2116164620
|
|
NM_000466.3(PEX1):c.2072-12_2072-9del
|
|
|
NM_000466.3(PEX1):c.2072-18T>C
|
|
|
NM_000466.3(PEX1):c.2072-1G>A
|
|
|
NM_000466.3(PEX1):c.2072-42_2085del
|
rs1792018845
|
|
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.2083_2084del (p.Met695fs)
|
rs2116156265
|
|
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)
|
rs267608178
|
|
NM_000466.3(PEX1):c.2093A>G (p.Glu698Gly)
|
rs1792018002
|
|
NM_000466.3(PEX1):c.2094G>A (p.Glu698=)
|
rs2116156123
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)
|
rs863225084
|
|
NM_000466.3(PEX1):c.2115G>A (p.Leu705=)
|
|
|
NM_000466.3(PEX1):c.2122C>T (p.Leu708=)
|
|
|
NM_000466.3(PEX1):c.2126T>G (p.Ile709Ser)
|
|
|
NM_000466.3(PEX1):c.2135G>T (p.Ser712Ile)
|
|
|
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)
|
rs1057517468
|
|
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3])
|
rs1554371691
|
|
NM_000466.3(PEX1):c.2145G>T (p.Gln715His)
|
rs1292385792
|
|
NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_000466.3(PEX1):c.2148A>G (p.Gln716=)
|
rs753358124
|
|
NM_000466.3(PEX1):c.2154A>T (p.Leu718=)
|
|
|
NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter)
|
rs1792013985
|
|
NM_000466.3(PEX1):c.2164del (p.Val723fs)
|
rs1792013807
|
|
NM_000466.3(PEX1):c.2175_2176del (p.Gln726fs)
|
|
|
NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter)
|
rs786205655
|
|
NM_000466.3(PEX1):c.217G>A (p.Val73Met)
|
|
|
NM_000466.3(PEX1):c.2187C>T (p.His729=)
|
rs915908576
|
|
NM_000466.3(PEX1):c.218T>C (p.Val73Ala)
|
rs1793077054
|
|
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.2215C>T (p.Pro739Ser)
|
|
|
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.2226G>C (p.Gln742His)
|
|
|
NM_000466.3(PEX1):c.2227-13T>G
|
rs2116149539
|
|
NM_000466.3(PEX1):c.2227-14G>T
|
rs1791958426
|
|
NM_000466.3(PEX1):c.2227-1G>C
|
|
|
NM_000466.3(PEX1):c.2227-4T>C
|
rs2116149447
|
|
NM_000466.3(PEX1):c.2227-4T>G
|
|
|
NM_000466.3(PEX1):c.2227G>A (p.Glu743Lys)
|
|
|
NM_000466.3(PEX1):c.2229A>G (p.Glu743=)
|
rs2116149390
|
|
NM_000466.3(PEX1):c.2234del (p.Arg745fs)
|
|
|
NM_000466.3(PEX1):c.2240A>G (p.Glu747Gly)
|
|
|
NM_000466.3(PEX1):c.2241A>G (p.Glu747=)
|
rs2116149299
|
|
NM_000466.3(PEX1):c.2249G>A (p.Cys750Tyr)
|
|
|
NM_000466.3(PEX1):c.2253T>C (p.Asn751=)
|
rs769925670
|
|
NM_000466.3(PEX1):c.2256A>G (p.Val752=)
|
|
|
NM_000466.3(PEX1):c.2268dup (p.Leu757fs)
|
|
|
NM_000466.3(PEX1):c.2275T>C (p.Cys759Arg)
|
|
|
NM_000466.3(PEX1):c.2276G>A (p.Cys759Tyr)
|
|
|
NM_000466.3(PEX1):c.2284A>C (p.Asn762His)
|
|
|
NM_000466.3(PEX1):c.2292C>T (p.Phe764=)
|
|
|
NM_000466.3(PEX1):c.2298T>C (p.Asp766=)
|
rs1585231825
|
|
NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)
|
|
|
NM_000466.3(PEX1):c.230A>G (p.Asn77Ser)
|
|
|
NM_000466.3(PEX1):c.2310G>A (p.Gln770=)
|
|
|
NM_000466.3(PEX1):c.2312A>G (p.His771Arg)
|
rs1791952164
|
|
NM_000466.3(PEX1):c.2313T>C (p.His771=)
|
rs763463570
|
|
NM_000466.3(PEX1):c.232A>C (p.Arg78=)
|
|
|
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs)
|
rs1791951634
|
|
NM_000466.3(PEX1):c.2334G>A (p.Gly778=)
|
|
|
NM_000466.3(PEX1):c.2334G>T (p.Gly778=)
|
|
|
NM_000466.3(PEX1):c.2336T>C (p.Phe779Ser)
|
|
|
NM_000466.3(PEX1):c.233G>C (p.Arg78Thr)
|
rs2116268284
|
|
NM_000466.3(PEX1):c.2349T>C (p.Asp783=)
|
rs2116148406
|
|
NM_000466.3(PEX1):c.2359C>T (p.Leu787Phe)
|
|
|
NM_000466.3(PEX1):c.235C>G (p.Gln79Glu)
|
|
|
NM_000466.3(PEX1):c.2361del (p.Val788fs)
|
|
|
NM_000466.3(PEX1):c.2364G>A (p.Val788=)
|
|
|
NM_000466.3(PEX1):c.2369G>A (p.Arg790Gln)
|
|
|
NM_000466.3(PEX1):c.2377C>T (p.His793Tyr)
|
|
|
NM_000466.3(PEX1):c.2384G>A (p.Arg795Gln)
|
rs368954584
|
|
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr)
|
rs1024476499
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
NM_000466.3(PEX1):c.2393G>A (p.Arg798His)
|
|
|
NM_000466.3(PEX1):c.2396dup (p.Ser800fs)
|
rs778871894
|
|
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+1G>A
|
|
|
NM_000466.3(PEX1):c.2416+20C>A
|
rs886038302
|
|
NM_000466.3(PEX1):c.2416+4T>C
|
|
|
NM_000466.3(PEX1):c.2417-10T>A
|
|
|
NM_000466.3(PEX1):c.2417-16_2417-13del
|
rs1350018099
|
|
NM_000466.3(PEX1):c.2417-17dup
|
|
|
NM_000466.3(PEX1):c.2417-1G>T
|
|
|
NM_000466.3(PEX1):c.2417-20T>G
|
|
|
NM_000466.3(PEX1):c.2417-5A>G
|
|
|
NM_000466.3(PEX1):c.2417-7del
|
|
|
NM_000466.3(PEX1):c.2418A>G (p.Lys806=)
|
|
|
NM_000466.3(PEX1):c.2420T>A (p.Leu807Ter)
|
|
|
NM_000466.3(PEX1):c.2425T>C (p.Leu809=)
|
|
|
NM_000466.3(PEX1):c.2427A>C (p.Leu809Phe)
|
|
|
NM_000466.3(PEX1):c.2433A>G (p.Thr811=)
|
|
|
NM_000466.3(PEX1):c.2434T>C (p.Leu812=)
|
|
|
NM_000466.3(PEX1):c.2443C>G (p.Gln815Glu)
|
|
|
NM_000466.3(PEX1):c.2449G>A (p.Ala817Thr)
|
rs2116145984
|
|
NM_000466.3(PEX1):c.2458G>A (p.Gly820Arg)
|
|
|
NM_000466.3(PEX1):c.2464_2477dup (p.Leu826fs)
|
rs1463323645
|
|
NM_000466.3(PEX1):c.2468C>T (p.Pro823Leu)
|
rs2116145764
|
|
NM_000466.3(PEX1):c.2468del (p.Pro823fs)
|
rs766947924
|
|
NM_000466.3(PEX1):c.2469T>G (p.Pro823=)
|
rs1562853565
|
|
NM_000466.3(PEX1):c.2471del (p.Ala824fs)
|
rs1585231093
|
|
NM_000466.3(PEX1):c.2472G>A (p.Ala824=)
|
rs764437476
|
|
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)
|
rs1232449804
|
|
NM_000466.3(PEX1):c.2480G>A (p.Arg827Gln)
|
|
|
NM_000466.3(PEX1):c.2480G>C (p.Arg827Pro)
|
rs752937649
|
|
NM_000466.3(PEX1):c.2480del (p.Arg827fs)
|
|
|
NM_000466.3(PEX1):c.2489A>G (p.Asn830Ser)
|
|
|
NM_000466.3(PEX1):c.2490C>T (p.Asn830=)
|
|
|
NM_000466.3(PEX1):c.2491C>T (p.Leu831=)
|
rs2116145518
|
|
NM_000466.3(PEX1):c.2492T>C (p.Leu831Pro)
|
|
|
NM_000466.3(PEX1):c.249del (p.Lys83fs)
|
rs1793076317
|
|
NM_000466.3(PEX1):c.24G>T (p.Ala8=)
|
rs1334167324
|
|
NM_000466.3(PEX1):c.2500C>A (p.Pro834Thr)
|
|
|
NM_000466.3(PEX1):c.2506G>C (p.Asp836His)
|
|
|
NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter)
|
rs2116145324
|
|
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.2536C>T (p.His846Tyr)
|
rs2116145200
|
|
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.2550dup (p.Ile851fs)
|
rs2116145117
|
|
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.2575C>A (p.Pro859Thr)
|
|
|
NM_000466.3(PEX1):c.2582del (p.Lys861fs)
|
|
|
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+15dup
|
rs761003048
|
|
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.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-11T>G
|
rs1443608242
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-21_2584-20dup
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-21dup
|
rs5885806
|
|
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.260C>T (p.Ser87Leu)
|
|
|
NM_000466.3(PEX1):c.2614C>A (p.Arg872=)
|
rs61750422
|
|
NM_000466.3(PEX1):c.2615G>A (p.Arg872Gln)
|
|
|
NM_000466.3(PEX1):c.2620A>G (p.Arg874Gly)
|
|
|
NM_000466.3(PEX1):c.2627G>T (p.Gly876Val)
|
rs545382069
|
|
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)
|
rs886043984
|
|
NM_000466.3(PEX1):c.2634G>A (p.Leu878=)
|
rs1193232549
|
|
NM_000466.3(PEX1):c.2638T>A (p.Tyr880Asn)
|
|
|
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.2667A>T (p.Leu889Phe)
|
rs2116132673
|
|
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.2686C>T (p.Arg896Ter)
|
rs1057517485
|
|
NM_000466.3(PEX1):c.2687G>T (p.Arg896Leu)
|
|
|
NM_000466.3(PEX1):c.2689G>C (p.Glu897Gln)
|
rs2116132462
|
|
NM_000466.3(PEX1):c.2692_2693del (p.Glu897_Ser898insTer)
|
rs2116132444
|
|
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn)
|
rs1791831263
|
|
NM_000466.3(PEX1):c.269del (p.Gly90fs)
|
rs1275822594
|
|
NM_000466.3(PEX1):c.2701A>C (p.Asn901His)
|
|
|
NM_000466.3(PEX1):c.2706T>C (p.Phe902=)
|
rs2116132336
|
|
NM_000466.3(PEX1):c.2712T>C (p.Ser904=)
|
|
|
NM_000466.3(PEX1):c.2714T>A (p.Val905Asp)
|
rs2116132179
|
|
NM_000466.3(PEX1):c.2718+10C>T
|
|
|
NM_000466.3(PEX1):c.2718+13_2718+16del
|
rs772364058
|
|
NM_000466.3(PEX1):c.2718+1G>A
|
|
|
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.2719-2A>G
|
rs1554369234
|
|
NM_000466.3(PEX1):c.2719-4A>G
|
|
|
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.2726A>G (p.Glu909Gly)
|
|
|
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+1G>A
|
rs1554376597
|
|
NM_000466.3(PEX1):c.273+20A>G
|
|
|
NM_000466.3(PEX1):c.273+2T>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.2738_2741dup (p.Tyr914Ter)
|
rs2116110975
|
|
NM_000466.3(PEX1):c.274-11A>T
|
|
|
NM_000466.3(PEX1):c.274-13T>G
|
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
NM_000466.3(PEX1):c.2761G>A (p.Ala921Thr)
|
rs2116110846
|
|
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+1del
|
|
|
NM_000466.3(PEX1):c.2783+20T>G
|
|
|
NM_000466.3(PEX1):c.2783+2T>C
|
rs1585224312
|
|
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.2784-1G>C
|
|
|
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.2788C>T (p.Gln930Ter)
|
|
|
NM_000466.3(PEX1):c.2793T>C (p.Ala931=)
|
rs2116095814
|
|
NM_000466.3(PEX1):c.2798dup (p.Pro934fs)
|
rs1057517484
|
|
NM_000466.3(PEX1):c.2799G>A (p.Lys933=)
|
|
|
NM_000466.3(PEX1):c.2802C>G (p.Pro934=)
|
rs2116095731
|
|
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer)
|
rs1791555145
|
|
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.2826T>G (p.Phe942Leu)
|
rs756877568
|
|
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.2848G>T (p.Gly950Cys)
|
rs1791552137
|
|
NM_000466.3(PEX1):c.2852dup (p.His951fs)
|
rs767877383
|
|
NM_000466.3(PEX1):c.2854_2856del (p.Asp952del)
|
rs762236071
|
|
NM_000466.3(PEX1):c.2859T>C (p.Asn953=)
|
rs1554368757
|
|
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)
|
rs1057517472
|
|
NM_000466.3(PEX1):c.285G>A (p.Lys95=)
|
|
|
NM_000466.3(PEX1):c.2861_2862dup (p.Gly955fs)
|
|
|
NM_000466.3(PEX1):c.2862A>G (p.Thr954=)
|
rs774719262
|
|
NM_000466.3(PEX1):c.2862A>T (p.Thr954=)
|
|
|
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
|
rs1057517481
|
|
NM_000466.3(PEX1):c.2879T>C (p.Val960Ala)
|
|
|
NM_000466.3(PEX1):c.287C>G (p.Pro96Arg)
|
rs1562868017
|
|
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.2912T>A (p.Val971Glu)
|
rs745667444
|
|
NM_000466.3(PEX1):c.2913A>T (p.Val971=)
|
rs2116094067
|
|
NM_000466.3(PEX1):c.2915_2916dup (p.Gly973fs)
|
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.2919C>G (p.Gly973=)
|
|
|
NM_000466.3(PEX1):c.2922del (p.Leu974fs)
|
rs762324548
|
|
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+1del
|
rs1791544171
|
|
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.2927-14_2927-13del
|
rs765202366
|
|
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.2927-19dup
|
|
|
NM_000466.3(PEX1):c.2927-2A>G
|
rs1057517531
|
|
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.2929G>A (p.Val977Ile)
|
|
|
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.2951G>A (p.Ser984Asn)
|
|
|
NM_000466.3(PEX1):c.2967T>C (p.Ile989=)
|
|
|
NM_000466.3(PEX1):c.296A>T (p.His99Leu)
|
rs1562868002
|
|
NM_000466.3(PEX1):c.2973T>C (p.Pro991=)
|
|
|
NM_000466.3(PEX1):c.2977dup (p.Leu993fs)
|
rs2116091859
|
|
NM_000466.3(PEX1):c.2979G>A (p.Leu993=)
|
rs768697489
|
|
NM_000466.3(PEX1):c.2980C>T (p.Leu994Phe)
|
rs760620313
|
|
NM_000466.3(PEX1):c.2985G>A (p.Arg995=)
|
|
|
NM_000466.3(PEX1):c.2989G>C (p.Gly997Arg)
|
|
|
NM_000466.3(PEX1):c.2992C>A (p.Arg998=)
|
rs61750428
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
NM_000466.3(PEX1):c.2T>G (p.Met1Arg)
|
rs766020928
|
|
NM_000466.3(PEX1):c.3003dup (p.Cys1002fs)
|
rs1562847911
|
|
NM_000466.3(PEX1):c.3005_3011dup (p.Tyr1004Ter)
|
rs2116091512
|
|
NM_000466.3(PEX1):c.300_302del (p.Val101del)
|
|
|
NM_000466.3(PEX1):c.3014G>C (p.Cys1005Ser)
|
rs1367395648
|
|
NM_000466.3(PEX1):c.301G>A (p.Val101Ile)
|
rs2116253380
|
|
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.3031-1G>A
|
|
|
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.3037C>T (p.Arg1013Cys)
|
rs1791439311
|
|
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)
|
rs1484321655
|
|
NM_000466.3(PEX1):c.303A>G (p.Val101=)
|
|
|
NM_000466.3(PEX1):c.3048T>C (p.Ile1016=)
|
|
|
NM_000466.3(PEX1):c.3053A>G (p.Asn1018Ser)
|
|
|
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.3062G>A (p.Ser1021Asn)
|
rs1330798276
|
|
NM_000466.3(PEX1):c.3068C>T (p.Ser1023Phe)
|
rs547203417
|
|
NM_000466.3(PEX1):c.3068_3071del (p.Ser1023fs)
|
|
|
NM_000466.3(PEX1):c.3069T>C (p.Ser1023=)
|
|
|
NM_000466.3(PEX1):c.3070C>T (p.Leu1024=)
|
|
|
NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs)
|
rs1312351030
|
|
NM_000466.3(PEX1):c.3076C>T (p.Leu1026=)
|
|
|
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)
|
rs954814470
|
|
NM_000466.3(PEX1):c.3080C>T (p.Ala1027Val)
|
|
|
NM_000466.3(PEX1):c.3094dup (p.Leu1032fs)
|
|
|
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.3115A>G (p.Thr1039Ala)
|
|
|
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)
|
rs1562846257
|
|
NM_000466.3(PEX1):c.3117T>C (p.Thr1039=)
|
|
|
NM_000466.3(PEX1):c.3118_3121del (p.Asp1040fs)
|
|
|
NM_000466.3(PEX1):c.3120C>G (p.Asp1040Glu)
|
rs2116078096
|
|
NM_000466.3(PEX1):c.3120C>T (p.Asp1040=)
|
rs2116078096
|
|
NM_000466.3(PEX1):c.3122C>T (p.Ser1041Phe)
|
|
|
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.3151C>T (p.Leu1051Phe)
|
|
|
NM_000466.3(PEX1):c.3152_3156del (p.Leu1051fs)
|
rs2116077430
|
|
NM_000466.3(PEX1):c.3153T>G (p.Leu1051=)
|
rs2116077487
|
|
NM_000466.3(PEX1):c.3158dup (p.Asn1053fs)
|
rs2116077400
|
|
NM_000466.3(PEX1):c.3172G>A (p.Ala1058Thr)
|
rs1791428584
|
|
NM_000466.3(PEX1):c.3173C>G (p.Ala1058Gly)
|
|
|
NM_000466.3(PEX1):c.3174C>T (p.Ala1058=)
|
rs2116077059
|
|
NM_000466.3(PEX1):c.3176T>C (p.Leu1059Ser)
|
|
|
NM_000466.3(PEX1):c.317T>G (p.Val106Gly)
|
|
|
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)
|
rs61750430
|
|
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg)
|
rs1230486358
|
|
NM_000466.3(PEX1):c.3189G>T (p.Leu1063=)
|
rs2116076833
|
|
NM_000466.3(PEX1):c.3194C>T (p.Ser1065Leu)
|
|
|
NM_000466.3(PEX1):c.3195G>C (p.Ser1065=)
|
|
|
NM_000466.3(PEX1):c.3195G>T (p.Ser1065=)
|
rs768417678
|
|
NM_000466.3(PEX1):c.3196A>C (p.Ser1066Arg)
|
rs1791427153
|
|
NM_000466.3(PEX1):c.319G>A (p.Glu107Lys)
|
rs1272833716
|
|
NM_000466.3(PEX1):c.31G>T (p.Gly11Trp)
|
|
|
NM_000466.3(PEX1):c.3204C>T (p.Leu1068=)
|
rs775109675
|
|
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)
|
rs1562846113
|
|
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+1G>C
|
rs267608181
|
|
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.323T>C (p.Val108Ala)
|
|
|
NM_000466.3(PEX1):c.3241C>T (p.Leu1081=)
|
|
|
NM_000466.3(PEX1):c.3242T>C (p.Leu1081Pro)
|
rs2116060032
|
|
NM_000466.3(PEX1):c.3249A>G (p.Ser1083=)
|
|
|
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
|
|
|
NM_000466.3(PEX1):c.3258del (p.Asn1088fs)
|
rs2116059954
|
|
NM_000466.3(PEX1):c.3259_3260del (p.Phe1086_Leu1087insTer)
|
rs2116059937
|
|
NM_000466.3(PEX1):c.3261_3262insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCTGGCGGTCGGGCGGCGGCGGCTGCCTCAATGGTCTTTCTT (p.Leu1087_Asn1088insPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaAlaLysThrGluThrAlaProLeuProAlaGluLeuHisProProGlyGlyArgAlaAlaAlaAlaAlaSerMetValPheLeu)
|
|
|
NM_000466.3(PEX1):c.3267T>C (p.His1089=)
|
|
|
NM_000466.3(PEX1):c.3270C>T (p.Ser1090=)
|
|
|
NM_000466.3(PEX1):c.3271A>G (p.Ser1091Gly)
|
|
|
NM_000466.3(PEX1):c.3273T>C (p.Ser1091=)
|
rs2116059800
|
|
NM_000466.3(PEX1):c.3280G>A (p.Asp1094Asn)
|
|
|
NM_000466.3(PEX1):c.32G>T (p.Gly11Val)
|
|
|
NM_000466.3(PEX1):c.3301G>T (p.Glu1101Ter)
|
rs2116059303
|
|
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)
|
rs886043558
|
|
NM_000466.3(PEX1):c.3321C>T (p.Ser1107=)
|
|
|
NM_000466.3(PEX1):c.3324T>C (p.Leu1108=)
|
rs2116058719
|
|
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)
|
rs1585214453
|
|
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.3340T>A (p.Ser1114Thr)
|
|
|
NM_000466.3(PEX1):c.3341C>T (p.Ser1114Phe)
|
|
|
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.3379C>T (p.Arg1127Trp)
|
|
|
NM_000466.3(PEX1):c.337G>A (p.Ala113Thr)
|
|
|
NM_000466.3(PEX1):c.3380G>A (p.Arg1127Gln)
|
|
|
NM_000466.3(PEX1):c.3384C>A (p.Leu1128=)
|
|
|
NM_000466.3(PEX1):c.3395G>A (p.Ser1132Asn)
|
rs2116057948
|
|
NM_000466.3(PEX1):c.3396C>T (p.Ser1132=)
|
|
|
NM_000466.3(PEX1):c.33G>A (p.Gly11=)
|
|
|
NM_000466.3(PEX1):c.3400dup (p.Tyr1134fs)
|
|
|
NM_000466.3(PEX1):c.3402T>C (p.Tyr1134=)
|
rs758575707
|
|
NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter)
|
|
|
NM_000466.3(PEX1):c.340G>T (p.Asp114Tyr)
|
|
|
NM_000466.3(PEX1):c.3416G>A (p.Gly1139Glu)
|
|
|
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del)
|
rs758076338
|
|
NM_000466.3(PEX1):c.3420T>C (p.Asn1140=)
|
|
|
NM_000466.3(PEX1):c.3425C>A (p.Thr1142Asn)
|
|
|
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+1G>A
|
rs1554367284
|
|
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.3438G>A (p.Leu1146=)
|
rs1585214175
|
|
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.3439-2A>G
|
|
|
NM_000466.3(PEX1):c.3439-5T>C
|
rs1483920015
|
|
NM_000466.3(PEX1):c.3439-5T>G
|
|
|
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.3447A>T (p.Gln1149His)
|
rs781059210
|
|
NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter)
|
rs1459743428
|
|
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.3455_3456del (p.Ser1152fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.3459A>C (p.Ala1153=)
|
rs2116045162
|
|
NM_000466.3(PEX1):c.345T>C (p.Asp115=)
|
|
|
NM_000466.3(PEX1):c.3463A>C (p.Ser1155Arg)
|
rs1791190751
|
|
NM_000466.3(PEX1):c.3489A>T (p.Gly1163=)
|
|
|
NM_000466.3(PEX1):c.3490G>A (p.Val1164Ile)
|
|
|
NM_000466.3(PEX1):c.3494C>T (p.Pro1165Leu)
|
|
|
NM_000466.3(PEX1):c.34G>T (p.Gly12Ter)
|
rs1793402720
|
|
NM_000466.3(PEX1):c.3501A>G (p.Lys1167=)
|
rs2116044708
|
|
NM_000466.3(PEX1):c.3502G>A (p.Asp1168Asn)
|
|
|
NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)
|
|
|
NM_000466.3(PEX1):c.3505_3517del (p.Gln1169fs)
|
rs727504076
|
|
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.3530dup (p.Leu1177fs)
|
|
|
NM_000466.3(PEX1):c.3549G>C (p.Glu1183Asp)
|
|
|
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.357+1G>C
|
rs866144313
|
|
NM_000466.3(PEX1):c.357+1G>T
|
rs866144313
|
|
NM_000466.3(PEX1):c.357+202_1170del
|
|
|
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)
|
rs1057517467
|
|
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.358-1G>T
|
rs1057517479
|
|
NM_000466.3(PEX1):c.358-20_358-19inv
|
|
|
NM_000466.3(PEX1):c.358-2A>C
|
rs1057517500
|
|
NM_000466.3(PEX1):c.358-8G>C
|
rs1585256094
|
|
NM_000466.3(PEX1):c.3582T>C (p.Asp1194=)
|
|
|
NM_000466.3(PEX1):c.3585A>T (p.Gln1195His)
|
|
|
NM_000466.3(PEX1):c.3588G>A (p.Leu1196=)
|
|
|
NM_000466.3(PEX1):c.3592del (p.Ala1198fs)
|
|
|
NM_000466.3(PEX1):c.35G>C (p.Gly12Ala)
|
rs747408581
|
|
NM_000466.3(PEX1):c.3602G>A (p.Ser1201Asn)
|
rs1791175493
|
|
NM_000466.3(PEX1):c.3610A>G (p.Lys1204Glu)
|
|
|
NM_000466.3(PEX1):c.3617G>T (p.Arg1206Ile)
|
rs574785174
|
|
NM_000466.3(PEX1):c.3618A>G (p.Arg1206=)
|
|
|
NM_000466.3(PEX1):c.3622C>T (p.Arg1208Trp)
|
|
|
NM_000466.3(PEX1):c.3622del (p.Arg1208fs)
|
rs1791174009
|
|
NM_000466.3(PEX1):c.3624del (p.Ser1209fs)
|
|
|
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)
|
rs886062501
|
|
NM_000466.3(PEX1):c.3632G>A (p.Ser1211Asn)
|
|
|
NM_000466.3(PEX1):c.3634G>C (p.Gly1212Arg)
|
|
|
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+6G>C
|
|
|
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.3637-1G>A
|
|
|
NM_000466.3(PEX1):c.3637-3_3637-1del
|
rs2116039871
|
|
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.3637-8del
|
rs775743560
|
|
NM_000466.3(PEX1):c.3637-8dup
|
rs775743560
|
|
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.3691C>T (p.Gln1231Ter)
|
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
NM_000466.3(PEX1):c.3696A>G (p.Ser1232=)
|
rs2116039237
|
|
NM_000466.3(PEX1):c.3697C>T (p.His1233Tyr)
|
|
|
NM_000466.3(PEX1):c.36A>G (p.Gly12=)
|
rs775940490
|
|
NM_000466.3(PEX1):c.370G>A (p.Val124Ile)
|
rs1792895303
|
|
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu)
|
rs1473858573
|
|
NM_000466.3(PEX1):c.3722C>T (p.Thr1241Ile)
|
rs1791136903
|
|
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+1_3767+2dup
|
rs1383361108
|
|
NM_000466.3(PEX1):c.3767+2T>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.3768-4dup
|
rs1459472276
|
|
NM_000466.3(PEX1):c.3771T>C (p.Tyr1257=)
|
rs2116022961
|
|
NM_000466.3(PEX1):c.3774A>G (p.Glu1258=)
|
|
|
NM_000466.3(PEX1):c.3776G>C (p.Ser1259Thr)
|
|
|
NM_000466.3(PEX1):c.3781C>A (p.Gln1261Lys)
|
rs2116022906
|
|
NM_000466.3(PEX1):c.3783A>G (p.Gln1261=)
|
rs1790992143
|
|
NM_000466.3(PEX1):c.3788C>A (p.Pro1263Gln)
|
|
|
NM_000466.3(PEX1):c.3788C>G (p.Pro1263Arg)
|
|
|
NM_000466.3(PEX1):c.3792G>A (p.Lys1264=)
|
rs2116022815
|
|
NM_000466.3(PEX1):c.379G>A (p.Glu127Lys)
|
|
|
NM_000466.3(PEX1):c.3803dup (p.Asn1268fs)
|
rs1293931061
|
|
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs)
|
rs758748151
|
|
NM_000466.3(PEX1):c.3808A>C (p.Ser1270Arg)
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|
|
NM_000466.3(PEX1):c.3816A>G (p.Thr1272=)
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NM_000466.3(PEX1):c.3828T>A (p.Pro1276=)
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|
|
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys)
|
rs750722718
|
|
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.385C>T (p.His129Tyr)
|
|
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NM_000466.3(PEX1):c.38G>A (p.Gly13Asp)
|
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NM_000466.3(PEX1):c.391C>T (p.Leu131=)
|
rs2116249061
|
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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=)
|
|
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NM_000466.3(PEX1):c.3G>A (p.Met1Ile)
|
rs786204704
|
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NM_000466.3(PEX1):c.400A>G (p.Ile134Val)
|
rs1346290048
|
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NM_000466.3(PEX1):c.401T>C (p.Ile134Thr)
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|
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NM_000466.3(PEX1):c.403C>A (p.Arg135=)
|
rs201415996
|
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NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)
|
rs201415996
|
|
NM_000466.3(PEX1):c.423C>A (p.Ala141=)
|
rs2116248825
|
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NM_000466.3(PEX1):c.42G>A (p.Gly14=)
|
rs1793401122
|
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NM_000466.3(PEX1):c.431C>T (p.Pro144Leu)
|
rs1792891356
|
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NM_000466.3(PEX1):c.43del (p.Ala15fs)
|
|
|
NM_000466.3(PEX1):c.445C>A (p.Gln149Lys)
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|
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NM_000466.3(PEX1):c.452C>T (p.Thr151Met)
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NM_000466.3(PEX1):c.453G>A (p.Thr151=)
|
rs368714078
|
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NM_000466.3(PEX1):c.453G>C (p.Thr151=)
|
rs368714078
|
|
NM_000466.3(PEX1):c.455A>G (p.Tyr152Cys)
|
rs1792889273
|
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NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
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NM_000466.3(PEX1):c.46del (p.Ala16fs)
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NM_000466.3(PEX1):c.472+10A>C
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NM_000466.3(PEX1):c.472+10A>G
|
rs1792887415
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NM_000466.3(PEX1):c.472+16A>G
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NM_000466.3(PEX1):c.472+19T>C
|
rs1792886894
|
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NM_000466.3(PEX1):c.472+20T>A
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NM_000466.3(PEX1):c.472+4G>A
|
rs2116248481
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NM_000466.3(PEX1):c.472+5G>A
|
rs1792887658
|
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NM_000466.3(PEX1):c.472+7G>A
|
rs1017687646
|
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NM_000466.3(PEX1):c.472+8C>T
|
rs2116248438
|
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NM_000466.3(PEX1):c.473-13A>C
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NM_000466.3(PEX1):c.473-13dup
|
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NM_000466.3(PEX1):c.473-14del
|
rs1236657615
|
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NM_000466.3(PEX1):c.473-16T>C
|
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NM_000466.3(PEX1):c.473-7T>C
|
rs1792881897
|
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NM_000466.3(PEX1):c.475G>A (p.Ala159Thr)
|
rs372455445
|
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NM_000466.3(PEX1):c.475G>T (p.Ala159Ser)
|
rs372455445
|
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NM_000466.3(PEX1):c.477A>G (p.Ala159=)
|
rs759628709
|
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NM_000466.3(PEX1):c.478C>T (p.Leu160=)
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NM_000466.3(PEX1):c.480A>G (p.Leu160=)
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NM_000466.3(PEX1):c.487G>C (p.Ala163Pro)
|
rs750376002
|
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NM_000466.3(PEX1):c.489T>G (p.Ala163=)
|
rs1269219461
|
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NM_000466.3(PEX1):c.515A>T (p.Asp172Val)
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NM_000466.3(PEX1):c.522A>G (p.Lys174=)
|
rs2116247566
|
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NM_000466.3(PEX1):c.535C>T (p.Pro179Ser)
|
rs760387811
|
|
NM_000466.3(PEX1):c.538_541dup (p.Thr181fs)
|
rs1792878019
|
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NM_000466.3(PEX1):c.53C>T (p.Thr18Ile)
|
|
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NM_000466.3(PEX1):c.540G>A (p.Lys180=)
|
rs1418653170
|
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NM_000466.3(PEX1):c.545G>A (p.Arg182His)
|
|
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NM_000466.3(PEX1):c.545G>C (p.Arg182Pro)
|
rs199591182
|
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NM_000466.3(PEX1):c.548G>A (p.Arg183Gln)
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|
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NM_000466.3(PEX1):c.54T>C (p.Thr18=)
|
rs2116298890
|
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NM_000466.3(PEX1):c.54T>G (p.Thr18=)
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NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)
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|
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NM_000466.3(PEX1):c.561T>G (p.Asn187Lys)
|
rs944593088
|
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NM_000466.3(PEX1):c.564A>G (p.Thr188=)
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|
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NM_000466.3(PEX1):c.564A>T (p.Thr188=)
|
rs2116247151
|
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NM_000466.3(PEX1):c.568del (p.Ser190fs)
|
|
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NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)
|
rs1554375599
|
|
NM_000466.3(PEX1):c.56_57del (p.Val19fs)
|
|
|
NM_000466.3(PEX1):c.56_80del (p.Val19fs)
|
rs1793398751
|
|
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
|
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NM_000466.3(PEX1):c.601A>G (p.Ser201Gly)
|
|
|
NM_000466.3(PEX1):c.607G>T (p.Gly203Ter)
|
rs1472300213
|
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NM_000466.3(PEX1):c.608G>A (p.Gly203Glu)
|
rs755103969
|
|
NM_000466.3(PEX1):c.60C>G (p.Ala20=)
|
rs2116298824
|
|
NM_000466.3(PEX1):c.617A>G (p.Gln206Arg)
|
|
|
NM_000466.3(PEX1):c.61T>C (p.Phe21Leu)
|
|
|
NM_000466.3(PEX1):c.621A>G (p.Lys207=)
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|
NM_000466.3(PEX1):c.631A>G (p.Lys211Glu)
|
|
|
NM_000466.3(PEX1):c.642A>C (p.Gln214His)
|
rs760441307
|
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NM_000466.3(PEX1):c.642A>G (p.Gln214=)
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|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
NM_000466.3(PEX1):c.645C>A (p.Thr215=)
|
rs151041559
|
|
NM_000466.3(PEX1):c.647A>G (p.Lys216Arg)
|
rs1792871862
|
|
NM_000466.3(PEX1):c.648G>A (p.Lys216=)
|
rs1289765250
|
|
NM_000466.3(PEX1):c.651dup (p.Leu218fs)
|
|
|
NM_000466.3(PEX1):c.652C>G (p.Leu218Val)
|
rs1226753246
|
|
NM_000466.3(PEX1):c.654T>C (p.Leu218=)
|
rs2116246535
|
|
NM_000466.3(PEX1):c.657_660del (p.Ser220fs)
|
rs786205656
|
|
NM_000466.3(PEX1):c.660A>G (p.Ser220=)
|
rs2116246458
|
|
NM_000466.3(PEX1):c.686A>G (p.Asn229Ser)
|
|
|
NM_000466.3(PEX1):c.68A>G (p.Asn23Ser)
|
rs1793399605
|
|
NM_000466.3(PEX1):c.699A>G (p.Ser233=)
|
rs2116246198
|
|
NM_000466.3(PEX1):c.69C>T (p.Asn23=)
|
|
|
NM_000466.3(PEX1):c.704T>C (p.Ile235Thr)
|
|
|
NM_000466.3(PEX1):c.705T>A (p.Ile235=)
|
|
|
NM_000466.3(PEX1):c.711T>A (p.Val237=)
|
rs758443247
|
|
NM_000466.3(PEX1):c.716C>T (p.Ser239Leu)
|
|
|
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.742A>C (p.Met248Leu)
|
|
|
NM_000466.3(PEX1):c.74G>A (p.Arg25His)
|
|
|
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.786_787del (p.Glu262fs)
|
rs2116245705
|
|
NM_000466.3(PEX1):c.788_789del (p.Thr263fs)
|
rs61750404
|
|
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.794G>A (p.Trp265Ter)
|
|
|
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.819_835delinsGTCT (p.Phe273fs)
|
rs1792860966
|
|
NM_000466.3(PEX1):c.821_824del (p.Lys274fs)
|
|
|
NM_000466.3(PEX1):c.831_834del (p.Ser278fs)
|
rs2116245323
|
|
NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)
|
|
|
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.851A>G (p.Asp284Gly)
|
|
|
NM_000466.3(PEX1):c.852C>A (p.Asp284Glu)
|
rs1792859390
|
|
NM_000466.3(PEX1):c.859T>G (p.Phe287Val)
|
rs1792858913
|
|
NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)
|
|
|
NM_000466.3(PEX1):c.881C>G (p.Pro294Arg)
|
|
|
NM_000466.3(PEX1):c.882T>A (p.Pro294=)
|
|
|
NM_000466.3(PEX1):c.885T>C (p.Pro295=)
|
|
|
NM_000466.3(PEX1):c.894del (p.Ile297_Tyr298insTer)
|
|
|
NM_000466.3(PEX1):c.896A>G (p.Asn299Ser)
|
|
|
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)
|
rs751506204
|
|
NM_000466.3(PEX1):c.8dup (p.Ser4fs)
|
|
|
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.907A>G (p.Thr303Ala)
|
|
|
NM_000466.3(PEX1):c.90C>T (p.His30=)
|
|
|
NM_000466.3(PEX1):c.911_912del (p.Ser304fs)
|
rs786204638
|
|
NM_000466.3(PEX1):c.912dup (p.Val305fs)
|
|
|
NM_000466.3(PEX1):c.920A>C (p.His307Pro)
|
|
|
NM_000466.3(PEX1):c.920A>G (p.His307Arg)
|
|
|
NM_000466.3(PEX1):c.933C>T (p.Ala311=)
|
|
|
NM_000466.3(PEX1):c.942A>G (p.Val314=)
|
|
|
NM_000466.3(PEX1):c.945T>G (p.Phe315Leu)
|
rs1792852764
|
|
NM_000466.3(PEX1):c.947C>T (p.Pro316Leu)
|
rs1296643317
|
|
NM_000466.3(PEX1):c.948A>G (p.Pro316=)
|
rs780966702
|
|
NM_000466.3(PEX1):c.951G>A (p.Trp317Ter)
|
|
|
NM_000466.3(PEX1):c.955C>T (p.Gln319Ter)
|
rs2116244185
|
|
NM_000466.3(PEX1):c.968A>T (p.Asp323Val)
|
|
|
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.973G>C (p.Glu325Gln)
|
|
|
NM_000466.3(PEX1):c.977C>T (p.Pro326Leu)
|
rs1341957716
|
|
NM_000466.3(PEX1):c.978C>T (p.Pro326=)
|
|
|
NM_000466.3(PEX1):c.97C>T (p.Arg33Trp)
|
|
|
NM_000466.3(PEX1):c.981C>G (p.Ser327Arg)
|
rs370441413
|
|
NM_000466.3(PEX1):c.984T>C (p.Phe328=)
|
|
|
NM_000466.3(PEX1):c.995_996del (p.Tyr332fs)
|
|
|
NM_000466.3(PEX1):c.996T>C (p.Tyr332=)
|
|
|
NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)
|
|
|
NM_001127649.3(PEX26):c.102C>G (p.Ala34=)
|
|
|
NM_001127649.3(PEX26):c.103G>A (p.Val35Met)
|
|
|
NM_001127649.3(PEX26):c.107A>G (p.Asp36Gly)
|
|
|
NM_001127649.3(PEX26):c.109C>T (p.Leu37Phe)
|
rs1926397048
|
|
NM_001127649.3(PEX26):c.111T>G (p.Leu37=)
|
|
|
NM_001127649.3(PEX26):c.112C>T (p.Leu38=)
|
|
|
NM_001127649.3(PEX26):c.119A>C (p.Glu40Ala)
|
rs1158271855
|
|
NM_001127649.3(PEX26):c.119A>G (p.Glu40Gly)
|
|
|
NM_001127649.3(PEX26):c.121G>A (p.Ala41Thr)
|
|
|
NM_001127649.3(PEX26):c.122C>T (p.Ala41Val)
|
rs1926398102
|
|
NM_001127649.3(PEX26):c.126C>T (p.Ala42=)
|
|
|
NM_001127649.3(PEX26):c.129C>T (p.Asp43=)
|
|
|
NM_001127649.3(PEX26):c.129CCT[1] (p.Leu45del)
|
rs1926398431
|
|
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.134T>C (p.Leu45Pro)
|
rs61752132
|
|
NM_001127649.3(PEX26):c.141G>C (p.Val47=)
|
|
|
NM_001127649.3(PEX26):c.145C>G (p.Leu49Val)
|
|
|
NM_001127649.3(PEX26):c.148G>C (p.Asp50His)
|
rs1926400002
|
|
NM_001127649.3(PEX26):c.150C>T (p.Asp50=)
|
rs1926400252
|
|
NM_001127649.3(PEX26):c.154del (p.Arg52fs)
|
|
|
NM_001127649.3(PEX26):c.155G>A (p.Arg52Gln)
|
rs746924588
|
|
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>G (p.Cys58Trp)
|
|
|
NM_001127649.3(PEX26):c.174C>T (p.Cys58=)
|
rs2123644447
|
|
NM_001127649.3(PEX26):c.175G>A (p.Glu59Lys)
|
|
|
NM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs)
|
rs1926403854
|
|
NM_001127649.3(PEX26):c.179G>A (p.Arg60Gln)
|
|
|
NM_001127649.3(PEX26):c.17C>T (p.Ser6Leu)
|
rs770013891
|
|
NM_001127649.3(PEX26):c.180G>A (p.Arg60=)
|
|
|
NM_001127649.3(PEX26):c.183C>T (p.Ala61=)
|
|
|
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)
|
rs1556586479
|
|
NM_001127649.3(PEX26):c.189G>A (p.Gln63=)
|
|
|
NM_001127649.3(PEX26):c.18G>A (p.Ser6=)
|
|
|
NM_001127649.3(PEX26):c.190_191del (p.Leu65fs)
|
|
|
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.205G>C (p.Ala69Pro)
|
rs372192286
|
|
NM_001127649.3(PEX26):c.20C>T (p.Thr7Ile)
|
rs1273090730
|
|
NM_001127649.3(PEX26):c.211G>T (p.Ala71Ser)
|
rs1329985456
|
|
NM_001127649.3(PEX26):c.214G>A (p.Glu72Lys)
|
rs754081996
|
|
NM_001127649.3(PEX26):c.218A>T (p.Glu73Val)
|
|
|
NM_001127649.3(PEX26):c.222C>T (p.Pro74=)
|
rs1198363471
|
|
NM_001127649.3(PEX26):c.224C>G (p.Ala75Gly)
|
|
|
NM_001127649.3(PEX26):c.224C>T (p.Ala75Val)
|
|
|
NM_001127649.3(PEX26):c.225G>T (p.Ala75=)
|
|
|
NM_001127649.3(PEX26):c.227G>A (p.Gly76Asp)
|
rs751562812
|
|
NM_001127649.3(PEX26):c.227G>T (p.Gly76Val)
|
|
|
NM_001127649.3(PEX26):c.228C>T (p.Gly76=)
|
rs786205556
|
|
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+1G>T
|
rs267608190
|
|
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.236T>C (p.Leu79Ser)
|
|
|
NM_001127649.3(PEX26):c.237G>C (p.Leu79Phe)
|
|
|
NM_001127649.3(PEX26):c.245A>G (p.Lys82Arg)
|
|
|
NM_001127649.3(PEX26):c.250T>A (p.Ser84Thr)
|
rs1482137285
|
|
NM_001127649.3(PEX26):c.254dup (p.Cys86fs)
|
rs61752133
|
|
NM_001127649.3(PEX26):c.255G>A (p.Leu85=)
|
|
|
NM_001127649.3(PEX26):c.255G>C (p.Leu85=)
|
|
|
NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)
|
|
|
NM_001127649.3(PEX26):c.262G>A (p.Val88Met)
|
rs555951210
|
|
NM_001127649.3(PEX26):c.267G>T (p.Gly89=)
|
rs1926480417
|
|
NM_001127649.3(PEX26):c.274G>A (p.Ala92Thr)
|
|
|
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.27_58dup (p.Arg20fs)
|
|
|
NM_001127649.3(PEX26):c.283G>A (p.Glu95Lys)
|
|
|
NM_001127649.3(PEX26):c.28del (p.Ala10fs)
|
|
|
NM_001127649.3(PEX26):c.297G>A (p.Trp99Ter)
|
|
|
NM_001127649.3(PEX26):c.298C>T (p.Gln100Ter)
|
|
|
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.329_330del (p.Tyr110fs)
|
|
|
NM_001127649.3(PEX26):c.331C>A (p.Gln111Lys)
|
|
|
NM_001127649.3(PEX26):c.333G>T (p.Gln111His)
|
|
|
NM_001127649.3(PEX26):c.334G>C (p.Val112Leu)
|
rs1926486603
|
|
NM_001127649.3(PEX26):c.336C>T (p.Val112=)
|
|
|
NM_001127649.3(PEX26):c.337C>T (p.Pro113Ser)
|
|
|
NM_001127649.3(PEX26):c.33C>T (p.Pro11=)
|
|
|
NM_001127649.3(PEX26):c.344del (p.Lys115fs)
|
|
|
NM_001127649.3(PEX26):c.348A>G (p.Leu116=)
|
rs2123647615
|
|
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)
|
rs61752129
|
|
NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)
|
|
|
NM_001127649.3(PEX26):c.351C>T (p.Pro117=)
|
rs2123647646
|
|
NM_001127649.3(PEX26):c.352C>G (p.Pro118Ala)
|
rs1196346206
|
|
NM_001127649.3(PEX26):c.352C>T (p.Pro118Ser)
|
rs1196346206
|
|
NM_001127649.3(PEX26):c.353C>A (p.Pro118His)
|
rs61752135
|
|
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg)
|
rs61752135
|
|
NM_001127649.3(PEX26):c.354C>G (p.Pro118=)
|
|
|
NM_001127649.3(PEX26):c.354del (p.Val120fs)
|
rs1926487809
|
|
NM_001127649.3(PEX26):c.354dup (p.Lys119fs)
|
|
|
NM_001127649.3(PEX26):c.356A>G (p.Lys119Arg)
|
|
|
NM_001127649.3(PEX26):c.35T>C (p.Leu12Pro)
|
|
|
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+6T>C
|
rs1769569086
|
|
NM_001127649.3(PEX26):c.371+8T>C
|
|
|
NM_001127649.3(PEX26):c.372-12dup
|
rs1489019658
|
|
NM_001127649.3(PEX26):c.372-18G>A
|
rs2123654065
|
|
NM_001127649.3(PEX26):c.372-18G>T
|
|
|
NM_001127649.3(PEX26):c.372-2A>G
|
|
|
NM_001127649.3(PEX26):c.372-4G>A
|
|
|
NM_001127649.3(PEX26):c.374T>C (p.Ile125Thr)
|
rs2123654101
|
|
NM_001127649.3(PEX26):c.37_38del (p.Arg13fs)
|
|
|
NM_001127649.3(PEX26):c.381A>T (p.Leu127Phe)
|
rs781745366
|
|
NM_001127649.3(PEX26):c.388A>C (p.Lys130Gln)
|
rs2123654132
|
|
NM_001127649.3(PEX26):c.393G>A (p.Met131Ile)
|
|
|
NM_001127649.3(PEX26):c.396A>G (p.Gln132=)
|
rs2123654144
|
|
NM_001127649.3(PEX26):c.396del (p.Glu133fs)
|
|
|
NM_001127649.3(PEX26):c.401C>T (p.Pro134Leu)
|
rs1223290401
|
|
NM_001127649.3(PEX26):c.402T>C (p.Pro134=)
|
rs2123654164
|
|
NM_001127649.3(PEX26):c.40G>A (p.Gly14Arg)
|
rs1926389027
|
|
NM_001127649.3(PEX26):c.412C>A (p.Leu138Met)
|
|
|
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.436C>T (p.Gln146Ter)
|
|
|
NM_001127649.3(PEX26):c.438A>G (p.Gln146=)
|
|
|
NM_001127649.3(PEX26):c.43C>T (p.Leu15Phe)
|
|
|
NM_001127649.3(PEX26):c.443del (p.Pro148fs)
|
|
|
NM_001127649.3(PEX26):c.444A>G (p.Pro148=)
|
|
|
NM_001127649.3(PEX26):c.447C>G (p.Ala149=)
|
|
|
NM_001127649.3(PEX26):c.448A>G (p.Asn150Asp)
|
|
|
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.468T>G (p.Tyr156Ter)
|
|
|
NM_001127649.3(PEX26):c.472G>A (p.Ala158Thr)
|
|
|
NM_001127649.3(PEX26):c.473C>A (p.Ala158Asp)
|
|
|
NM_001127649.3(PEX26):c.477G>A (p.Leu159=)
|
|
|
NM_001127649.3(PEX26):c.47G>A (p.Gly16Glu)
|
rs1321820881
|
|
NM_001127649.3(PEX26):c.48G>A (p.Gly16=)
|
|
|
NM_001127649.3(PEX26):c.493C>A (p.Gln165Lys)
|
|
|
NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter)
|
rs781370363
|
|
NM_001127649.3(PEX26):c.494A>G (p.Gln165Arg)
|
|
|
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.515G>C (p.Gly172Ala)
|
rs2123654402
|
|
NM_001127649.3(PEX26):c.516C>T (p.Gly172=)
|
|
|
NM_001127649.3(PEX26):c.525G>A (p.Ser175=)
|
|
|
NM_001127649.3(PEX26):c.52C>A (p.Pro18Thr)
|
rs924635830
|
|
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.563G>C (p.Gly188Ala)
|
|
|
NM_001127649.3(PEX26):c.569A>G (p.Glu190Gly)
|
rs201867828
|
|
NM_001127649.3(PEX26):c.577C>A (p.Leu193Met)
|
|
|
NM_001127649.3(PEX26):c.579G>A (p.Leu193=)
|
|
|
NM_001127649.3(PEX26):c.57G>A (p.Leu19=)
|
|
|
NM_001127649.3(PEX26):c.58C>G (p.Arg20Gly)
|
rs1215836822
|
|
NM_001127649.3(PEX26):c.598C>T (p.His200Tyr)
|
|
|
NM_001127649.3(PEX26):c.59G>A (p.Arg20His)
|
|
|
NM_001127649.3(PEX26):c.600C>T (p.His200=)
|
|
|
NM_001127649.3(PEX26):c.601A>G (p.Thr201Ala)
|
rs866813788
|
|
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.613del (p.Gln205fs)
|
rs2123654642
|
|
NM_001127649.3(PEX26):c.615G>A (p.Gln205=)
|
|
|
NM_001127649.3(PEX26):c.620A>C (p.Lys207Thr)
|
|
|
NM_001127649.3(PEX26):c.629A>G (p.His210Arg)
|
|
|
NM_001127649.3(PEX26):c.63C>T (p.Ser21=)
|
|
|
NM_001127649.3(PEX26):c.641A>G (p.Glu214Gly)
|
rs2123654686
|
|
NM_001127649.3(PEX26):c.660C>T (p.Asn220=)
|
|
|
NM_001127649.3(PEX26):c.662T>A (p.Leu221Gln)
|
rs767345970
|
|
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.667G>A (p.Gly223Ser)
|
rs899632797
|
|
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.668-2A>G
|
rs2123657331
|
|
NM_001127649.3(PEX26):c.668-3C>G
|
|
|
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.692C>T (p.Ser231Leu)
|
rs2123657386
|
|
NM_001127649.3(PEX26):c.697C>T (p.Pro233Ser)
|
rs1488593497
|
|
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.71C>T (p.Pro24Leu)
|
rs771847925
|
|
NM_001127649.3(PEX26):c.721G>A (p.Asp241Asn)
|
|
|
NM_001127649.3(PEX26):c.725_726del (p.Ser242fs)
|
|
|
NM_001127649.3(PEX26):c.729G>A (p.Ala243=)
|
|
|
NM_001127649.3(PEX26):c.72G>A (p.Pro24=)
|
|
|
NM_001127649.3(PEX26):c.732G>A (p.Val244=)
|
|
|
NM_001127649.3(PEX26):c.738C>A (p.His246Gln)
|
rs1380881201
|
|
NM_001127649.3(PEX26):c.73_79del (p.Val25fs)
|
|
|
NM_001127649.3(PEX26):c.741C>T (p.Phe247=)
|
|
|
NM_001127649.3(PEX26):c.744T>C (p.Phe248=)
|
|
|
NM_001127649.3(PEX26):c.745T>C (p.Ser249Pro)
|
rs1926792505
|
|
NM_001127649.3(PEX26):c.748C>G (p.Leu250Val)
|
rs1049902849
|
|
NM_001127649.3(PEX26):c.74T>G (p.Val25Gly)
|
rs2123644052
|
|
NM_001127649.3(PEX26):c.750G>A (p.Leu250=)
|
|
|
NM_001127649.3(PEX26):c.751C>G (p.Pro251Ala)
|
rs2123657589
|
|
NM_001127649.3(PEX26):c.757A>T (p.Lys253Ter)
|
|
|
NM_001127649.3(PEX26):c.759A>G (p.Lys253=)
|
rs1926793456
|
|
NM_001127649.3(PEX26):c.75G>A (p.Val25=)
|
|
|
NM_001127649.3(PEX26):c.761A>T (p.Lys254Met)
|
rs2123657617
|
|
NM_001127649.3(PEX26):c.773C>A (p.Ala258Asp)
|
|
|
NM_001127649.3(PEX26):c.77G>A (p.Arg26His)
|
rs770555305
|
|
NM_001127649.3(PEX26):c.77G>C (p.Arg26Pro)
|
rs770555305
|
|
NM_001127649.3(PEX26):c.77G>T (p.Arg26Leu)
|
rs770555305
|
|
NM_001127649.3(PEX26):c.783C>T (p.Ile261=)
|
rs1926794430
|
|
NM_001127649.3(PEX26):c.784C>G (p.Leu262Val)
|
|
|
NM_001127649.3(PEX26):c.784C>T (p.Leu262Phe)
|
rs776346270
|
|
NM_001127649.3(PEX26):c.789_798del (p.Cys263fs)
|
rs1926794975
|
|
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+22del
|
|
|
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.832C>T (p.His278Tyr)
|
|
|
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.855G>C (p.Gln285His)
|
|
|
NM_001127649.3(PEX26):c.856C>G (p.Leu286Val)
|
|
|
NM_001127649.3(PEX26):c.861C>T (p.Phe287=)
|
|
|
NM_001127649.3(PEX26):c.864C>T (p.Arg288=)
|
|
|
NM_001127649.3(PEX26):c.872G>A (p.Arg291Gln)
|
|
|
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.887C>A (p.Ser296Tyr)
|
|
|
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.900G>C (p.Gln300His)
|
|
|
NM_001127649.3(PEX26):c.904C>G (p.Arg302Gly)
|
|
|
NM_001127649.3(PEX26):c.905G>A (p.Arg302His)
|
|
|
NM_001127649.3(PEX26):c.90C>T (p.Ala30=)
|
|
|
NM_001127649.3(PEX26):c.913G>A (p.Asp305Asn)
|
|
|
NM_001127649.3(PEX26):c.91C>T (p.Arg31Trp)
|
|
|
NM_001127649.3(PEX26):c.96G>T (p.Ala32=)
|
|
|
NM_001127649.3(PEX26):c.98C>G (p.Pro33Arg)
|
rs368118099
|
|
NM_001127649.3(PEX26):c.99G>C (p.Pro33=)
|
rs1284941471
|
|
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.1037T>C (p.Leu346Pro)
|
rs2136227054
|
|
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.1048G>A (p.Asp350Asn)
|
|
|
NM_001351132.2(PEX5):c.1051C>T (p.Leu351=)
|
|
|
NM_001351132.2(PEX5):c.1061C>G (p.Ala354Gly)
|
|
|
NM_001351132.2(PEX5):c.1065G>A (p.Val355=)
|
|
|
NM_001351132.2(PEX5):c.1077G>A (p.Glu359=)
|
|
|
NM_001351132.2(PEX5):c.107G>A (p.Arg36Lys)
|
rs2135878731
|
|
NM_001351132.2(PEX5):c.107G>C (p.Arg36Thr)
|
rs2135878731
|
|
NM_001351132.2(PEX5):c.1082C>G (p.Ala361Gly)
|
|
|
NM_001351132.2(PEX5):c.1092G>C (p.Gln364His)
|
|
|
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+5G>A
|
rs2136228030
|
|
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.1132A>G (p.Thr378Ala)
|
rs2136230585
|
|
NM_001351132.2(PEX5):c.1134C>G (p.Thr378=)
|
|
|
NM_001351132.2(PEX5):c.113G>T (p.Gly38Val)
|
|
|
NM_001351132.2(PEX5):c.1143G>A (p.Glu381=)
|
rs2136230701
|
|
NM_001351132.2(PEX5):c.1145A>G (p.Asn382Ser)
|
rs2136230724
|
|
NM_001351132.2(PEX5):c.1151A>G (p.Gln384Arg)
|
rs2136230787
|
|
NM_001351132.2(PEX5):c.1155A>G (p.Glu385=)
|
|
|
NM_001351132.2(PEX5):c.115C>T (p.Pro39Ser)
|
rs751937990
|
|
NM_001351132.2(PEX5):c.1166_1168dup (p.Ile389dup)
|
rs774781585
|
|
NM_001351132.2(PEX5):c.1173A>G (p.Ala391=)
|
rs1045943718
|
|
NM_001351132.2(PEX5):c.1177C>T (p.Arg393Trp)
|
|
|
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.1181+4A>G
|
rs2136231209
|
|
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.1182G>A (p.Arg394=)
|
rs199624284
|
|
NM_001351132.2(PEX5):c.1182G>T (p.Arg394Ser)
|
rs199624284
|
|
NM_001351132.2(PEX5):c.1185T>C (p.Cys395=)
|
|
|
NM_001351132.2(PEX5):c.1198C>T (p.Pro400Ser)
|
|
|
NM_001351132.2(PEX5):c.119G>A (p.Trp40Ter)
|
rs2135879026
|
|
NM_001351132.2(PEX5):c.1201G>A (p.Asp401Asn)
|
rs1945098580
|
|
NM_001351132.2(PEX5):c.1202A>G (p.Asp401Gly)
|
|
|
NM_001351132.2(PEX5):c.1206C>T (p.Asn402=)
|
|
|
NM_001351132.2(PEX5):c.120G>C (p.Trp40Cys)
|
rs2135879116
|
|
NM_001351132.2(PEX5):c.1215A>G (p.Ala405=)
|
|
|
NM_001351132.2(PEX5):c.121C>A (p.Pro41Thr)
|
rs781410836
|
|
NM_001351132.2(PEX5):c.1224G>A (p.Ala408=)
|
|
|
NM_001351132.2(PEX5):c.1229C>T (p.Ala410Val)
|
|
|
NM_001351132.2(PEX5):c.122C>A (p.Pro41His)
|
rs772786048
|
|
NM_001351132.2(PEX5):c.122C>T (p.Pro41Leu)
|
rs772786048
|
|
NM_001351132.2(PEX5):c.1239C>T (p.Phe413=)
|
|
|
NM_001351132.2(PEX5):c.1241C>T (p.Thr414Ile)
|
rs1458919607
|
|
NM_001351132.2(PEX5):c.1246G>A (p.Glu416Lys)
|
rs1945105117
|
|
NM_001351132.2(PEX5):c.1248G>A (p.Glu416=)
|
rs2136236014
|
|
NM_001351132.2(PEX5):c.124C>G (p.Pro42Ala)
|
rs2135879394
|
|
NM_001351132.2(PEX5):c.1251C>G (p.Ser417=)
|
|
|
NM_001351132.2(PEX5):c.1252C>A (p.Leu418Met)
|
rs2136236124
|
|
NM_001351132.2(PEX5):c.1254G>C (p.Leu418=)
|
rs989783550
|
|
NM_001351132.2(PEX5):c.1254G>T (p.Leu418=)
|
|
|
NM_001351132.2(PEX5):c.125C>G (p.Pro42Arg)
|
|
|
NM_001351132.2(PEX5):c.1264dup (p.Ala422fs)
|
rs1374334296
|
|
NM_001351132.2(PEX5):c.1265C>T (p.Ala422Val)
|
rs1945109944
|
|
NM_001351132.2(PEX5):c.1266C>T (p.Ala422=)
|
|
|
NM_001351132.2(PEX5):c.1267T>C (p.Cys423Arg)
|
rs2136236516
|
|
NM_001351132.2(PEX5):c.126C>T (p.Pro42=)
|
rs1199646327
|
|
NM_001351132.2(PEX5):c.1279dup (p.Arg427fs)
|
|
|
NM_001351132.2(PEX5):c.1280G>T (p.Arg427Leu)
|
rs774915360
|
|
NM_001351132.2(PEX5):c.1282G>A (p.Asp428Asn)
|
|
|
NM_001351132.2(PEX5):c.1289T>C (p.Leu430Pro)
|
|
|
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.1312C>T (p.His438Tyr)
|
rs2136237273
|
|
NM_001351132.2(PEX5):c.1315C>A (p.Leu439Met)
|
rs756242143
|
|
NM_001351132.2(PEX5):c.1315C>T (p.Leu439=)
|
rs756242143
|
|
NM_001351132.2(PEX5):c.1319_1320del (p.Val440fs)
|
|
|
NM_001351132.2(PEX5):c.131C>T (p.Ala44Val)
|
rs372992555
|
|
NM_001351132.2(PEX5):c.1321A>G (p.Thr441Ala)
|
rs2136237401
|
|
NM_001351132.2(PEX5):c.1322C>T (p.Thr441Ile)
|
rs777898843
|
|
NM_001351132.2(PEX5):c.132C>G (p.Ala44=)
|
|
|
NM_001351132.2(PEX5):c.1338G>A (p.Gly446=)
|
rs1359071852
|
|
NM_001351132.2(PEX5):c.133C>T (p.Pro45Ser)
|
rs1379216235
|
|
NM_001351132.2(PEX5):c.134C>T (p.Pro45Leu)
|
rs145649593
|
|
NM_001351132.2(PEX5):c.1355_1356del (p.Leu452fs)
|
|
|
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.135_147+32del
|
|
|
NM_001351132.2(PEX5):c.135_147+33delinsC
|
rs2135880243
|
|
NM_001351132.2(PEX5):c.1364G>A (p.Ser455Asn)
|
|
|
NM_001351132.2(PEX5):c.1368_1369insGG (p.Arg457fs)
|
|
|
NM_001351132.2(PEX5):c.1380A>T (p.Gly460=)
|
rs2136238100
|
|
NM_001351132.2(PEX5):c.1384C>G (p.Leu462Val)
|
rs774709242
|
|
NM_001351132.2(PEX5):c.1384C>T (p.Leu462Phe)
|
rs774709242
|
|
NM_001351132.2(PEX5):c.1386C>G (p.Leu462=)
|
|
|
NM_001351132.2(PEX5):c.1388T>C (p.Leu463Ser)
|
rs2136238274
|
|
NM_001351132.2(PEX5):c.1391C>T (p.Ser464Phe)
|
|
|
NM_001351132.2(PEX5):c.1392T>C (p.Ser464=)
|
rs2136238346
|
|
NM_001351132.2(PEX5):c.1394+14dup
|
rs1186018434
|
|
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.1395C>T (p.Asp465=)
|
|
|
NM_001351132.2(PEX5):c.1398C>A (p.Ser466=)
|
|
|
NM_001351132.2(PEX5):c.1413G>A (p.Val471=)
|
rs115760878
|
|
NM_001351132.2(PEX5):c.1413G>C (p.Val471=)
|
rs115760878
|
|
NM_001351132.2(PEX5):c.1419G>A (p.Glu473=)
|
rs1945181377
|
|
NM_001351132.2(PEX5):c.1419G>T (p.Glu473Asp)
|
rs1945181377
|
|
NM_001351132.2(PEX5):c.1426C>T (p.Leu476=)
|
|
|
NM_001351132.2(PEX5):c.1426del (p.Leu476fs)
|
|
|
NM_001351132.2(PEX5):c.1438C>T (p.Arg480Trp)
|
|
|
NM_001351132.2(PEX5):c.1462C>A (p.Pro488Thr)
|
|
|
NM_001351132.2(PEX5):c.1462C>G (p.Pro488Ala)
|
|
|
NM_001351132.2(PEX5):c.1469_1470insAC (p.Gln491fs)
|
rs2136243209
|
|
NM_001351132.2(PEX5):c.147+11T>A
|
|
|
NM_001351132.2(PEX5):c.147+13G>C
|
|
|
NM_001351132.2(PEX5):c.147+2T>G
|
|
|
NM_001351132.2(PEX5):c.147+32_147+121del
|
|
|
NM_001351132.2(PEX5):c.147+55_147+56insGTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTC
|
|
|
NM_001351132.2(PEX5):c.147+6T>C
|
rs2135881175
|
|
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.148-15_148-12del
|
rs774517551
|
|
NM_001351132.2(PEX5):c.148-18T>C
|
|
|
NM_001351132.2(PEX5):c.148-19C>G
|
|
|
NM_001351132.2(PEX5):c.148-19C>T
|
rs1487304617
|
|
NM_001351132.2(PEX5):c.148-20T>G
|
|
|
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.1489C>A (p.Leu497Ile)
|
rs2136243573
|
|
NM_001351132.2(PEX5):c.1491T>C (p.Leu497=)
|
|
|
NM_001351132.2(PEX5):c.1506G>A (p.Gly502=)
|
|
|
NM_001351132.2(PEX5):c.1512T>G (p.Tyr504Ter)
|
|
|
NM_001351132.2(PEX5):c.1513G>C (p.Asp505His)
|
|
|
NM_001351132.2(PEX5):c.1515C>T (p.Asp505=)
|
|
|
NM_001351132.2(PEX5):c.1521C>G (p.Ala507=)
|
|
|
NM_001351132.2(PEX5):c.1521_1527del (p.Val508fs)
|
rs1731078730
|
|
NM_001351132.2(PEX5):c.1528T>A (p.Cys510Ser)
|
rs1945199025
|
|
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.1543C>G (p.Leu515Val)
|
rs370984432
|
|
NM_001351132.2(PEX5):c.1552C>T (p.Arg518Cys)
|
rs182028506
|
|
NM_001351132.2(PEX5):c.1553G>A (p.Arg518His)
|
rs146183061
|
|
NM_001351132.2(PEX5):c.1560+10G>C
|
|
|
NM_001351132.2(PEX5):c.1560+6C>T
|
rs1945208210
|
|
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.1561-2A>G
|
rs2136254229
|
|
NM_001351132.2(PEX5):c.1561-3C>T
|
|
|
NM_001351132.2(PEX5):c.1561-5C>G
|
|
|
NM_001351132.2(PEX5):c.1561-6T>C
|
|
|
NM_001351132.2(PEX5):c.1565A>G (p.Tyr522Cys)
|
rs1205322300
|
|
NM_001351132.2(PEX5):c.1572G>A (p.Leu524=)
|
|
|
NM_001351132.2(PEX5):c.1574G>A (p.Trp525Ter)
|
rs2136254746
|
|
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)
|
|
|
NM_001351132.2(PEX5):c.1582C>G (p.Leu528Val)
|
|
|
NM_001351132.2(PEX5):c.1588G>A (p.Ala530Thr)
|
rs1591804566
|
|
NM_001351132.2(PEX5):c.1592C>A (p.Thr531Asn)
|
rs1945293420
|
|
NM_001351132.2(PEX5):c.1593C>G (p.Thr531=)
|
|
|
NM_001351132.2(PEX5):c.15G>A (p.Glu5=)
|
rs2135875866
|
|
NM_001351132.2(PEX5):c.1607del (p.Asn536fs)
|
|
|
NM_001351132.2(PEX5):c.1610A>G (p.Gln537Arg)
|
|
|
NM_001351132.2(PEX5):c.1611G>C (p.Gln537His)
|
|
|
NM_001351132.2(PEX5):c.1618G>A (p.Glu540Lys)
|
rs977141805
|
|
NM_001351132.2(PEX5):c.1619A>G (p.Glu540Gly)
|
rs1460981277
|
|
NM_001351132.2(PEX5):c.1620A>C (p.Glu540Asp)
|
|
|
NM_001351132.2(PEX5):c.1629T>C (p.Ala543=)
|
rs2136255855
|
|
NM_001351132.2(PEX5):c.1631C>T (p.Ala544Val)
|
|
|
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.1651C>T (p.Leu551Phe)
|
rs2136256584
|
|
NM_001351132.2(PEX5):c.1653C>T (p.Leu551=)
|
rs200215904
|
|
NM_001351132.2(PEX5):c.1656G>T (p.Gln552His)
|
|
|
NM_001351132.2(PEX5):c.1660G>A (p.Gly554Ser)
|
|
|
NM_001351132.2(PEX5):c.1668C>T (p.Ile556=)
|
|
|
NM_001351132.2(PEX5):c.1670G>A (p.Arg557Gln)
|
|
|
NM_001351132.2(PEX5):c.1674C>T (p.Ser558=)
|
|
|
NM_001351132.2(PEX5):c.1675C>T (p.Arg559Cys)
|
|
|
NM_001351132.2(PEX5):c.1679A>G (p.Tyr560Cys)
|
|
|
NM_001351132.2(PEX5):c.1684C>G (p.Leu562Val)
|
rs1945310790
|
|
NM_001351132.2(PEX5):c.1684C>T (p.Leu562=)
|
|
|
NM_001351132.2(PEX5):c.1686G>A (p.Leu562=)
|
|
|
NM_001351132.2(PEX5):c.1687G>T (p.Gly563Cys)
|
|
|
NM_001351132.2(PEX5):c.168A>G (p.Val56=)
|
|
|
NM_001351132.2(PEX5):c.1690A>G (p.Ile564Val)
|
rs778897851
|
|
NM_001351132.2(PEX5):c.1691T>C (p.Ile564Thr)
|
rs1945312349
|
|
NM_001351132.2(PEX5):c.1704C>T (p.Asn568=)
|
|
|
NM_001351132.2(PEX5):c.1708G>A (p.Gly570Arg)
|
|
|
NM_001351132.2(PEX5):c.170C>T (p.Ala57Val)
|
|
|
NM_001351132.2(PEX5):c.1713T>G (p.Ala571=)
|
|
|
NM_001351132.2(PEX5):c.1717C>T (p.Arg573Trp)
|
|
|
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+5G>A
|
rs1085307998
|
|
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.1744G>T (p.Ala582Ser)
|
rs2136263113
|
|
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.1769G>C (p.Arg590Pro)
|
|
|
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.1778G>C (p.Arg593Pro)
|
|
|
NM_001351132.2(PEX5):c.1782T>C (p.Gly594=)
|
|
|
NM_001351132.2(PEX5):c.1794C>T (p.Ala598=)
|
rs778329472
|
|
NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu)
|
rs748956654
|
|
NM_001351132.2(PEX5):c.1809C>T (p.Ile603=)
|
|
|
NM_001351132.2(PEX5):c.1811G>A (p.Trp604Ter)
|
|
|
NM_001351132.2(PEX5):c.1815C>T (p.Ser605=)
|
|
|
NM_001351132.2(PEX5):c.1819C>G (p.Leu607Val)
|
rs1945371383
|
|
NM_001351132.2(PEX5):c.1821G>C (p.Leu607=)
|
|
|
NM_001351132.2(PEX5):c.182A>G (p.Glu61Gly)
|
|
|
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+4A>G
|
rs2135890266
|
|
NM_001351132.2(PEX5):c.183+6T>G
|
rs1296968716
|
|
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.1835C>G (p.Ser612Cys)
|
|
|
NM_001351132.2(PEX5):c.1839G>A (p.Met613Ile)
|
rs750620715
|
|
NM_001351132.2(PEX5):c.183G>A (p.Glu61=)
|
|
|
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.1850G>C (p.Ser617Thr)
|
rs751637149
|
|
NM_001351132.2(PEX5):c.1850G>T (p.Ser617Ile)
|
rs751637149
|
|
NM_001351132.2(PEX5):c.1852G>A (p.Asp618Asn)
|
|
|
NM_001351132.2(PEX5):c.1859A>G (p.Tyr620Cys)
|
rs2136266140
|
|
NM_001351132.2(PEX5):c.1863G>A (p.Gly621=)
|
|
|
NM_001351132.2(PEX5):c.1866_1868del (p.Ala623del)
|
|
|
NM_001351132.2(PEX5):c.1874C>A (p.Ala625Glu)
|
|
|
NM_001351132.2(PEX5):c.1877_1915dup (p.Pro638_Gln639insArgAspLeuSerThrLeuLeuThrMetPheGlyLeuPro)
|
|
|
NM_001351132.2(PEX5):c.1887C>T (p.Ser629=)
|
|
|
NM_001351132.2(PEX5):c.1897_1900del (p.Thr633fs)
|
rs1183517073
|
|
NM_001351132.2(PEX5):c.1901T>G (p.Met634Arg)
|
rs751798701
|
|
NM_001351132.2(PEX5):c.1903_1906del (p.Phe635fs)
|
|
|
NM_001351132.2(PEX5):c.1909C>T (p.Leu637=)
|
rs2136267479
|
|
NM_001351132.2(PEX5):c.1913C>G (p.Pro638Arg)
|
rs138706552
|
|
NM_001351132.2(PEX5):c.1913C>T (p.Pro638Leu)
|
rs138706552
|
|
NM_001351132.2(PEX5):c.1914C>T (p.Pro638=)
|
|
|
NM_001351132.2(PEX5):c.1917G>C (p.Gln639His)
|
rs1271426444
|
|
NM_001351132.2(PEX5):c.192T>C (p.Ala64=)
|
|
|
NM_001351132.2(PEX5):c.196T>C (p.Phe66Leu)
|
rs757539708
|
|
NM_001351132.2(PEX5):c.1A>G (p.Met1Val)
|
rs2135875571
|
|
NM_001351132.2(PEX5):c.206A>C (p.Asp69Ala)
|
rs2135896856
|
|
NM_001351132.2(PEX5):c.20T>C (p.Val7Ala)
|
|
|
NM_001351132.2(PEX5):c.218C>G (p.Pro73Arg)
|
|
|
NM_001351132.2(PEX5):c.219C>A (p.Pro73=)
|
|
|
NM_001351132.2(PEX5):c.224T>C (p.Val75Ala)
|
rs1941053816
|
|
NM_001351132.2(PEX5):c.225G>C (p.Val75=)
|
rs1941054422
|
|
NM_001351132.2(PEX5):c.229C>T (p.Arg77Cys)
|
rs768373250
|
|
NM_001351132.2(PEX5):c.230G>C (p.Arg77Pro)
|
|
|
NM_001351132.2(PEX5):c.231T>C (p.Arg77=)
|
|
|
NM_001351132.2(PEX5):c.232G>A (p.Ala78Thr)
|
|
|
NM_001351132.2(PEX5):c.234C>T (p.Ala78=)
|
|
|
NM_001351132.2(PEX5):c.237T>G (p.Pro79=)
|
|
|
NM_001351132.2(PEX5):c.241A>G (p.Thr81Ala)
|
|
|
NM_001351132.2(PEX5):c.242C>T (p.Thr81Ile)
|
|
|
NM_001351132.2(PEX5):c.243C>T (p.Thr81=)
|
|
|
NM_001351132.2(PEX5):c.24G>T (p.Glu8Asp)
|
rs1488661702
|
|
NM_001351132.2(PEX5):c.254A>G (p.Asp85Gly)
|
rs768652769
|
|
NM_001351132.2(PEX5):c.257A>T (p.Asp86Val)
|
|
|
NM_001351132.2(PEX5):c.261C>T (p.Leu87=)
|
|
|
NM_001351132.2(PEX5):c.262C>T (p.Leu88=)
|
|
|
NM_001351132.2(PEX5):c.266C>T (p.Ala89Val)
|
|
|
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.287A>G (p.Gln96Arg)
|
|
|
NM_001351132.2(PEX5):c.28G>C (p.Glu10Gln)
|
rs747725502
|
|
NM_001351132.2(PEX5):c.292A>C (p.Asn98His)
|
rs374327439
|
|
NM_001351132.2(PEX5):c.297C>A (p.Phe99Leu)
|
rs573650362
|
|
NM_001351132.2(PEX5):c.297C>T (p.Phe99=)
|
|
|
NM_001351132.2(PEX5):c.300C>T (p.Arg100=)
|
|
|
NM_001351132.2(PEX5):c.30del (p.Glu10fs)
|
|
|
NM_001351132.2(PEX5):c.315A>C (p.Arg105Ser)
|
rs2135899269
|
|
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[4]
|
|
|
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.317-2A>G
|
rs2135903939
|
|
NM_001351132.2(PEX5):c.32G>A (p.Cys11Tyr)
|
|
|
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.358C>T (p.Gln120Ter)
|
rs1941140792
|
|
NM_001351132.2(PEX5):c.359A>G (p.Gln120Arg)
|
rs1347906263
|
|
NM_001351132.2(PEX5):c.361G>T (p.Glu121Ter)
|
rs1565673352
|
|
NM_001351132.2(PEX5):c.36G>A (p.Gly12=)
|
rs1940801248
|
|
NM_001351132.2(PEX5):c.36G>C (p.Gly12=)
|
|
|
NM_001351132.2(PEX5):c.37G>A (p.Gly13Ser)
|
|
|
NM_001351132.2(PEX5):c.37G>C (p.Gly13Arg)
|
|
|
NM_001351132.2(PEX5):c.391G>T (p.Val131Leu)
|
|
|
NM_001351132.2(PEX5):c.393A>C (p.Val131=)
|
|
|
NM_001351132.2(PEX5):c.404A>G (p.Tyr135Cys)
|
rs1385787688
|
|
NM_001351132.2(PEX5):c.404A>T (p.Tyr135Phe)
|
rs1385787688
|
|
NM_001351132.2(PEX5):c.414T>A (p.Thr138=)
|
|
|
NM_001351132.2(PEX5):c.416_419del (p.Asp139fs)
|
|
|
NM_001351132.2(PEX5):c.417C>G (p.Asp139Glu)
|
|
|
NM_001351132.2(PEX5):c.417C>T (p.Asp139=)
|
|
|
NM_001351132.2(PEX5):c.42C>T (p.Ala14=)
|
rs1940804674
|
|
NM_001351132.2(PEX5):c.437C>T (p.Ser146Phe)
|
|
|
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.44A>G (p.Asn15Ser)
|
rs951795989
|
|
NM_001351132.2(PEX5):c.450C>T (p.Asp150=)
|
|
|
NM_001351132.2(PEX5):c.451C>T (p.Pro151Ser)
|
|
|
NM_001351132.2(PEX5):c.452C>T (p.Pro151Leu)
|
rs200720523
|
|
NM_001351132.2(PEX5):c.464C>G (p.Ser155Cys)
|
rs1943231620
|
|
NM_001351132.2(PEX5):c.466C>G (p.Pro156Ala)
|
rs2136074053
|
|
NM_001351132.2(PEX5):c.468T>A (p.Pro156=)
|
|
|
NM_001351132.2(PEX5):c.472del (p.Arg158fs)
|
rs2136074154
|
|
NM_001351132.2(PEX5):c.478del (p.Ala160fs)
|
|
|
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.500C>G (p.Ser167Ter)
|
|
|
NM_001351132.2(PEX5):c.502GAG[1] (p.Glu169del)
|
rs773404109
|
|
NM_001351132.2(PEX5):c.505G>C (p.Glu169Gln)
|
rs1565693412
|
|
NM_001351132.2(PEX5):c.508_510del (p.Lys170del)
|
|
|
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>A (p.Leu173Met)
|
rs1943245558
|
|
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.531_534dup (p.Thr179fs)
|
rs2136075415
|
|
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)
|
rs749729761
|
|
NM_001351132.2(PEX5):c.536C>T (p.Thr179Ile)
|
rs2136075556
|
|
NM_001351132.2(PEX5):c.540C>T (p.Ala180=)
|
rs2136075643
|
|
NM_001351132.2(PEX5):c.544G>A (p.Asp182Asn)
|
|
|
NM_001351132.2(PEX5):c.547C>A (p.Arg183Ser)
|
rs746104983
|
|
NM_001351132.2(PEX5):c.54_69dup (p.Phe24fs)
|
|
|
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.551G>C (p.Trp184Ser)
|
|
|
NM_001351132.2(PEX5):c.552-10C>T
|
|
|
NM_001351132.2(PEX5):c.552-14C>A
|
|
|
NM_001351132.2(PEX5):c.552-1G>A
|
rs1064793563
|
|
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.552G>A (p.Trp184Ter)
|
rs1419213790
|
|
NM_001351132.2(PEX5):c.555T>A (p.Tyr185Ter)
|
|
|
NM_001351132.2(PEX5):c.556G>T (p.Asp186Tyr)
|
|
|
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.569C>T (p.Pro190Leu)
|
rs2136143100
|
|
NM_001351132.2(PEX5):c.570T>C (p.Pro190=)
|
rs767068406
|
|
NM_001351132.2(PEX5):c.573G>A (p.Glu191=)
|
|
|
NM_001351132.2(PEX5):c.579T>A (p.Asp193Glu)
|
|
|
NM_001351132.2(PEX5):c.57G>A (p.Lys19=)
|
rs781336959
|
|
NM_001351132.2(PEX5):c.594C>T (p.Ala198=)
|
|
|
NM_001351132.2(PEX5):c.596G>A (p.Ser199Asn)
|
rs750906889
|
|
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.620A>T (p.Asp207Val)
|
rs1011160954
|
|
NM_001351132.2(PEX5):c.626A>G (p.Lys209Arg)
|
rs748132358
|
|
NM_001351132.2(PEX5):c.62C>T (p.Ala21Val)
|
|
|
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.645C>A (p.Phe215Leu)
|
rs1944168456
|
|
NM_001351132.2(PEX5):c.651A>G (p.Lys217=)
|
rs2136150959
|
|
NM_001351132.2(PEX5):c.654C>G (p.Phe218Leu)
|
|
|
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.670G>T (p.Glu224Ter)
|
|
|
NM_001351132.2(PEX5):c.672A>G (p.Glu224=)
|
|
|
NM_001351132.2(PEX5):c.674_695dup (p.Ser235fs)
|
rs2136151586
|
|
NM_001351132.2(PEX5):c.678G>A (p.Gln226=)
|
|
|
NM_001351132.2(PEX5):c.692C>G (p.Ser231Cys)
|
|
|
NM_001351132.2(PEX5):c.693C>A (p.Ser231=)
|
|
|
NM_001351132.2(PEX5):c.694G>A (p.Gly232Ser)
|
|
|
NM_001351132.2(PEX5):c.695G>A (p.Gly232Asp)
|
|
|
NM_001351132.2(PEX5):c.698C>T (p.Ala233Val)
|
rs2136152339
|
|
NM_001351132.2(PEX5):c.702G>T (p.Gly234=)
|
|
|
NM_001351132.2(PEX5):c.706G>C (p.Gly236Arg)
|
rs2136152526
|
|
NM_001351132.2(PEX5):c.710G>A (p.Arg237Gln)
|
rs1011369978
|
|
NM_001351132.2(PEX5):c.712G>T (p.Ala238Ser)
|
|
|
NM_001351132.2(PEX5):c.715C>T (p.Gln239Ter)
|
|
|
NM_001351132.2(PEX5):c.720A>C (p.Ala240=)
|
|
|
NM_001351132.2(PEX5):c.733G>A (p.Ala245Thr)
|
|
|
NM_001351132.2(PEX5):c.737_738del (p.Glu246fs)
|
|
|
NM_001351132.2(PEX5):c.738G>A (p.Glu246=)
|
|
|
NM_001351132.2(PEX5):c.740_743del (p.Phe247fs)
|
|
|
NM_001351132.2(PEX5):c.745C>G (p.Gln249Glu)
|
rs1442020873
|
|
NM_001351132.2(PEX5):c.753+18T>A
|
|
|
NM_001351132.2(PEX5):c.753+19C>A
|
|
|
NM_001351132.2(PEX5):c.753+1G>A
|
|
|
NM_001351132.2(PEX5):c.753+2T>C
|
|
|
NM_001351132.2(PEX5):c.754-14C>A
|
|
|
NM_001351132.2(PEX5):c.754-18C>G
|
|
|
NM_001351132.2(PEX5):c.754-2A>C
|
|
|
NM_001351132.2(PEX5):c.754-4G>T
|
rs111286659
|
|
NM_001351132.2(PEX5):c.754-8del
|
|
|
NM_001351132.2(PEX5):c.755G>A (p.Gly252Asp)
|
rs1234343542
|
|
NM_001351132.2(PEX5):c.756T>C (p.Gly252=)
|
|
|
NM_001351132.2(PEX5):c.759A>G (p.Thr253=)
|
|
|
NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter)
|
|
|
NM_001351132.2(PEX5):c.777C>T (p.Asp259=)
|
|
|
NM_001351132.2(PEX5):c.786A>G (p.Thr262=)
|
|
|
NM_001351132.2(PEX5):c.793G>A (p.Val265Ile)
|
rs776020873
|
|
NM_001351132.2(PEX5):c.799A>T (p.Thr267Ser)
|
rs1445974761
|
|
NM_001351132.2(PEX5):c.79G>T (p.Asp27Tyr)
|
rs1940819292
|
|
NM_001351132.2(PEX5):c.807C>T (p.Ala269=)
|
|
|
NM_001351132.2(PEX5):c.808C>T (p.Leu270Phe)
|
rs2136158729
|
|
NM_001351132.2(PEX5):c.808dup (p.Leu270fs)
|
rs2136158689
|
|
NM_001351132.2(PEX5):c.80A>G (p.Asp27Gly)
|
rs2135877981
|
|
NM_001351132.2(PEX5):c.822T>A (p.Phe274Leu)
|
|
|
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)
|
|
|
NM_001351132.2(PEX5):c.82_83insT (p.Lys28fs)
|
|
|
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.845A>C (p.Glu282Ala)
|
|
|
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.846+5G>A
|
|
|
NM_001351132.2(PEX5):c.846G>T (p.Glu282Asp)
|
rs2136159660
|
|
NM_001351132.2(PEX5):c.847-11C>T
|
|
|
NM_001351132.2(PEX5):c.847-2A>G
|
|
|
NM_001351132.2(PEX5):c.847-7_861del
|
|
|
NM_001351132.2(PEX5):c.847-9T>C
|
|
|
NM_001351132.2(PEX5):c.848C>G (p.Ser283Cys)
|
rs370010815
|
|
NM_001351132.2(PEX5):c.848C>T (p.Ser283Phe)
|
rs370010815
|
|
NM_001351132.2(PEX5):c.855C>T (p.Val285=)
|
|
|
NM_001351132.2(PEX5):c.856G>A (p.Asp286Asn)
|
rs1246877750
|
|
NM_001351132.2(PEX5):c.878C>G (p.Ala293Gly)
|
rs1216991743
|
|
NM_001351132.2(PEX5):c.88del (p.Leu30fs)
|
|
|
NM_001351132.2(PEX5):c.893T>C (p.Met298Thr)
|
|
|
NM_001351132.2(PEX5):c.897A>G (p.Ala299=)
|
|
|
NM_001351132.2(PEX5):c.901C>G (p.Arg301Gly)
|
rs767306549
|
|
NM_001351132.2(PEX5):c.902G>A (p.Arg301Gln)
|
rs2136175132
|
|
NM_001351132.2(PEX5):c.912G>A (p.Glu304=)
|
|
|
NM_001351132.2(PEX5):c.915C>T (p.Ala305=)
|
|
|
NM_001351132.2(PEX5):c.919C>T (p.Pro307Ser)
|
|
|
NM_001351132.2(PEX5):c.91C>T (p.Arg31Trp)
|
rs767406855
|
|
NM_001351132.2(PEX5):c.930T>C (p.Ser310=)
|
rs2136175490
|
|
NM_001351132.2(PEX5):c.933C>G (p.Asp311Glu)
|
rs1446059699
|
|
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.944_945dup (p.Thr316fs)
|
|
|
NM_001351132.2(PEX5):c.947C>T (p.Thr316Met)
|
rs747529713
|
|
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.956C>A (p.Thr319Asn)
|
rs1310273629
|
|
NM_001351132.2(PEX5):c.960T>C (p.Tyr320=)
|
|
|
NM_001351132.2(PEX5):c.961_963del (p.Asp321del)
|
rs1256295273
|
|
NM_001351132.2(PEX5):c.965A>G (p.Lys322Arg)
|
rs770028664
|
|
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.966+1G>C
|
rs2136176386
|
|
NM_001351132.2(PEX5):c.966+24dup
|
rs1944415107
|
|
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.967-1G>A
|
|
|
NM_001351132.2(PEX5):c.967-1_971del
|
|
|
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.967G>C (p.Gly323Arg)
|
|
|
NM_001351132.2(PEX5):c.969G>A (p.Gly323=)
|
|
|
NM_001351132.2(PEX5):c.969G>C (p.Gly323=)
|
|
|
NM_001351132.2(PEX5):c.973C>G (p.Gln325Glu)
|
rs1369524555
|
|
NM_001351132.2(PEX5):c.979GAG[2] (p.Glu329del)
|
|
|
NM_001351132.2(PEX5):c.984G>A (p.Glu328=)
|
rs2136226421
|
|
NM_001351132.2(PEX5):c.992C>G (p.Pro331Arg)
|
|
|
NM_001351132.2(PEX5):c.998G>T (p.Arg333Leu)
|
rs59209175
|
|
NM_001351132.2(PEX5):c.99G>C (p.Glu33Asp)
|
|
|
NM_002617.4(PEX10):c.102C>G (p.His34Gln)
|
|
|
NM_002617.4(PEX10):c.104G>C (p.Ser35Thr)
|
rs2100441138
|
|
NM_002617.4(PEX10):c.105C>G (p.Ser35Arg)
|
rs1339846247
|
|
NM_002617.4(PEX10):c.105C>T (p.Ser35=)
|
rs1339846247
|
|
NM_002617.4(PEX10):c.107T>G (p.Leu36Arg)
|
|
|
NM_002617.4(PEX10):c.10G>A (p.Ala4Thr)
|
|
|
NM_002617.4(PEX10):c.110C>A (p.Ala37Glu)
|
rs2100441107
|
|
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.113-1G>C
|
|
|
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.120del (p.Lys41fs)
|
|
|
NM_002617.4(PEX10):c.122A>T (p.Lys41Met)
|
rs112163061
|
|
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.134G>A (p.Trp45Ter)
|
|
|
NM_002617.4(PEX10):c.148G>A (p.Glu50Lys)
|
|
|
NM_002617.4(PEX10):c.14C>T (p.Ala5Val)
|
|
|
NM_002617.4(PEX10):c.153G>C (p.Leu51=)
|
|
|
NM_002617.4(PEX10):c.157_158del (p.Ser53fs)
|
rs1384671249
|
|
NM_002617.4(PEX10):c.160G>A (p.Asp54Asn)
|
rs1289859085
|
|
NM_002617.4(PEX10):c.160G>C (p.Asp54His)
|
|
|
NM_002617.4(PEX10):c.163G>A (p.Val55Met)
|
|
|
NM_002617.4(PEX10):c.177C>T (p.Gly59=)
|
|
|
NM_002617.4(PEX10):c.178C>A (p.Leu60Ile)
|
|
|
NM_002617.4(PEX10):c.178C>T (p.Leu60Phe)
|
rs2100434691
|
|
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.191C>G (p.Ala64Gly)
|
|
|
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.198C>G (p.Tyr66Ter)
|
|
|
NM_002617.4(PEX10):c.1A>C (p.Met1Leu)
|
|
|
NM_002617.4(PEX10):c.1A>T (p.Met1Leu)
|
rs886041314
|
|
NM_002617.4(PEX10):c.202A>T (p.Thr68Ser)
|
|
|
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.209G>T (p.Gly70Val)
|
rs1643096230
|
|
NM_002617.4(PEX10):c.20G>A (p.Ser7Asn)
|
|
|
NM_002617.4(PEX10):c.211del (p.Glu71fs)
|
|
|
NM_002617.4(PEX10):c.213G>A (p.Glu71=)
|
|
|
NM_002617.4(PEX10):c.216G>A (p.Glu72=)
|
rs1643096018
|
|
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)
|
rs531987102
|
|
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.22C>A (p.Pro8Thr)
|
|
|
NM_002617.4(PEX10):c.22C>T (p.Pro8Ser)
|
|
|
NM_002617.4(PEX10):c.231C>T (p.Ile77=)
|
|
|
NM_002617.4(PEX10):c.235G>A (p.Val79Met)
|
|
|
NM_002617.4(PEX10):c.23C>A (p.Pro8His)
|
rs2100441590
|
|
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.247del (p.Arg83fs)
|
|
|
NM_002617.4(PEX10):c.24C>T (p.Pro8=)
|
|
|
NM_002617.4(PEX10):c.250A>G (p.Ile84Val)
|
|
|
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.263C>A (p.Ser88Tyr)
|
rs913840649
|
|
NM_002617.4(PEX10):c.264C>T (p.Ser88=)
|
rs2100429934
|
|
NM_002617.4(PEX10):c.266C>G (p.Ser89Trp)
|
rs769847524
|
|
NM_002617.4(PEX10):c.26C>A (p.Pro9Gln)
|
|
|
NM_002617.4(PEX10):c.26del (p.Pro9fs)
|
rs1553232917
|
|
NM_002617.4(PEX10):c.26dup (p.Glu10fs)
|
rs1553232917
|
|
NM_002617.4(PEX10):c.270G>A (p.Leu90=)
|
|
|
NM_002617.4(PEX10):c.271C>A (p.Arg91Ser)
|
rs747921371
|
|
NM_002617.4(PEX10):c.274C>G (p.Arg92Gly)
|
rs1214996893
|
|
NM_002617.4(PEX10):c.274C>T (p.Arg92Cys)
|
rs1214996893
|
|
NM_002617.4(PEX10):c.280G>C (p.Val94Leu)
|
rs142626035
|
|
NM_002617.4(PEX10):c.28dup (p.Glu10fs)
|
rs1643275394
|
|
NM_002617.4(PEX10):c.290_291inv (p.Thr97Met)
|
|
|
NM_002617.4(PEX10):c.291A>T (p.Thr97=)
|
rs2494598
|
|
NM_002617.4(PEX10):c.291_292insTGCTGGTGACG (p.Leu98delinsCysTrpTer)
|
rs1643093232
|
|
NM_002617.4(PEX10):c.295del (p.His99fs)
|
rs1557910651
|
|
NM_002617.4(PEX10):c.297T>G (p.His99Gln)
|
|
|
NM_002617.4(PEX10):c.299_300delinsAT (p.Ala100Asp)
|
rs2100429705
|
|
NM_002617.4(PEX10):c.29A>G (p.Glu10Gly)
|
rs1367685379
|
|
NM_002617.4(PEX10):c.2T>C (p.Met1Thr)
|
rs724160002
|
|
NM_002617.4(PEX10):c.301G>A (p.Val101Ile)
|
|
|
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.310T>G (p.Tyr104Asp)
|
|
|
NM_002617.4(PEX10):c.313C>G (p.Leu105Val)
|
rs1450880054
|
|
NM_002617.4(PEX10):c.31G>A (p.Val11Met)
|
rs1643274878
|
|
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.338T>A (p.Leu113Gln)
|
rs757778155
|
|
NM_002617.4(PEX10):c.338del (p.Leu113fs)
|
rs878853044
|
|
NM_002617.4(PEX10):c.341A>G (p.Glu114Gly)
|
rs554490737
|
|
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)
|
rs369965266
|
|
NM_002617.4(PEX10):c.353A>C (p.Gln118Pro)
|
|
|
NM_002617.4(PEX10):c.357T>A (p.Ala119=)
|
|
|
NM_002617.4(PEX10):c.358G>C (p.Asp120His)
|
rs2100429329
|
|
NM_002617.4(PEX10):c.361C>T (p.Pro121Ser)
|
rs1056200158
|
|
NM_002617.4(PEX10):c.363del (p.Asp122fs)
|
|
|
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.374G>A (p.Arg125Gln)
|
|
|
NM_002617.4(PEX10):c.378C>T (p.Pro126=)
|
rs762783424
|
|
NM_002617.4(PEX10):c.380T>C (p.Leu127Ser)
|
|
|
NM_002617.4(PEX10):c.387G>A (p.Gly129=)
|
|
|
NM_002617.4(PEX10):c.387del (p.Ser130fs)
|
rs2100429148
|
|
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.394G>C (p.Gly132Arg)
|
|
|
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.3G>A (p.Met1Ile)
|
|
|
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs)
|
rs2100429011
|
|
NM_002617.4(PEX10):c.406C>T (p.Arg136Cys)
|
|
|
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
|
|
|
NM_002617.4(PEX10):c.416C>T (p.Ser139Leu)
|
|
|
NM_002617.4(PEX10):c.417A>T (p.Ser139=)
|
|
|
NM_002617.4(PEX10):c.417_418del (p.Arg142fs)
|
|
|
NM_002617.4(PEX10):c.41C>T (p.Ala14Val)
|
|
|
NM_002617.4(PEX10):c.422C>A (p.Ala141Glu)
|
|
|
NM_002617.4(PEX10):c.426G>A (p.Arg142=)
|
rs2100428915
|
|
NM_002617.4(PEX10):c.42G>T (p.Ala14=)
|
|
|
NM_002617.4(PEX10):c.430_439del (p.Trp144fs)
|
rs2100428812
|
|
NM_002617.4(PEX10):c.431G>C (p.Trp144Ser)
|
rs760785367
|
|
NM_002617.4(PEX10):c.434T>C (p.Met145Thr)
|
|
|
NM_002617.4(PEX10):c.436C>G (p.Arg146Gly)
|
rs1184194956
|
|
NM_002617.4(PEX10):c.444C>A (p.His148Gln)
|
|
|
NM_002617.4(PEX10):c.446C>G (p.Thr149Arg)
|
rs764948458
|
|
NM_002617.4(PEX10):c.44C>T (p.Ala15Val)
|
|
|
NM_002617.4(PEX10):c.450C>T (p.Ala150=)
|
|
|
NM_002617.4(PEX10):c.450del (p.Thr151fs)
|
|
|
NM_002617.4(PEX10):c.452C>T (p.Thr151Ile)
|
|
|
NM_002617.4(PEX10):c.458_461del (p.Thr153fs)
|
|
|
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.475G>C (p.Ala159Pro)
|
|
|
NM_002617.4(PEX10):c.475del (p.Ala159fs)
|
rs2100428583
|
|
NM_002617.4(PEX10):c.476C>T (p.Ala159Val)
|
|
|
NM_002617.4(PEX10):c.478C>T (p.Leu160=)
|
rs2100428537
|
|
NM_002617.4(PEX10):c.479T>C (p.Leu160Pro)
|
rs199877853
|
|
NM_002617.4(PEX10):c.484C>A (p.Arg162=)
|
|
|
NM_002617.4(PEX10):c.486G>A (p.Arg162=)
|
|
|
NM_002617.4(PEX10):c.486_496del (p.Ala163fs)
|
rs2100428385
|
|
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.496del (p.Val166fs)
|
rs770937339
|
|
NM_002617.4(PEX10):c.4G>T (p.Ala2Ser)
|
rs770336711
|
|
NM_002617.4(PEX10):c.4del (p.Ala2fs)
|
rs62636524
|
|
NM_002617.4(PEX10):c.504_507del (p.Gln169fs)
|
rs2100428321
|
|
NM_002617.4(PEX10):c.506_507del (p.Gln169fs)
|
rs1643083325
|
|
NM_002617.4(PEX10):c.509del (p.Gly170fs)
|
|
|
NM_002617.4(PEX10):c.50A>G (p.Lys17Arg)
|
rs1643273662
|
|
NM_002617.4(PEX10):c.510C>T (p.Gly170=)
|
|
|
NM_002617.4(PEX10):c.514G>A (p.Ala172Thr)
|
|
|
NM_002617.4(PEX10):c.522C>T (p.Leu174=)
|
rs1643082506
|
|
NM_002617.4(PEX10):c.526C>A (p.Arg176=)
|
|
|
NM_002617.4(PEX10):c.526C>T (p.Arg176Trp)
|
|
|
NM_002617.4(PEX10):c.52G>C (p.Asp18His)
|
rs61750432
|
|
NM_002617.4(PEX10):c.534T>C (p.His178=)
|
rs1570105385
|
|
NM_002617.4(PEX10):c.537T>A (p.Val179=)
|
|
|
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
|
|
|
NM_002617.4(PEX10):c.54C>T (p.Asp18=)
|
rs1570123615
|
|
NM_002617.4(PEX10):c.551_555del (p.Ile184fs)
|
|
|
NM_002617.4(PEX10):c.551del (p.Ile184fs)
|
rs1557910202
|
|
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.566A>G (p.Tyr189Cys)
|
rs1278563588
|
|
NM_002617.4(PEX10):c.573G>A (p.Leu191=)
|
rs2100427960
|
|
NM_002617.4(PEX10):c.576C>A (p.Ala192=)
|
|
|
NM_002617.4(PEX10):c.57G>C (p.Glu19Asp)
|
|
|
NM_002617.4(PEX10):c.582G>A (p.Arg194=)
|
rs2100427884
|
|
NM_002617.4(PEX10):c.585C>G (p.Leu195=)
|
|
|
NM_002617.4(PEX10):c.589G>A (p.Gly197Arg)
|
rs1397641277
|
|
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.600C>T (p.Tyr200=)
|
|
|
NM_002617.4(PEX10):c.601-14del
|
rs1643028060
|
|
NM_002617.4(PEX10):c.601-1G>C
|
|
|
NM_002617.4(PEX10):c.601-22T>C
|
rs2100423367
|
|
NM_002617.4(PEX10):c.601-23G>A
|
rs1643028725
|
|
NM_002617.4(PEX10):c.601-25G>A
|
|
|
NM_002617.4(PEX10):c.601-28G>C
|
|
|
NM_002617.4(PEX10):c.601-29T>C
|
rs1195070492
|
|
NM_002617.4(PEX10):c.601-31C>T
|
|
|
NM_002617.4(PEX10):c.601-34G>A
|
rs2100423459
|
|
NM_002617.4(PEX10):c.601-36A>T
|
rs891345902
|
|
NM_002617.4(PEX10):c.601-37C>G
|
|
|
NM_002617.4(PEX10):c.601-38_601-37del
|
rs1553231896
|
|
NM_002617.4(PEX10):c.601-39del
|
|
|
NM_002617.4(PEX10):c.601-3C>T
|
rs369643163
|
|
NM_002617.4(PEX10):c.601-3_601-2del
|
rs1643027426
|
|
NM_002617.4(PEX10):c.601-42C>A
|
rs1164836731
|
|
NM_002617.4(PEX10):c.601-43T>C
|
|
|
NM_002617.4(PEX10):c.601-4dup
|
rs2100423250
|
|
NM_002617.4(PEX10):c.601-61G>A
|
|
|
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.601-72_601-71del
|
|
|
NM_002617.4(PEX10):c.601-75G>T
|
rs369211467
|
|
NM_002617.4(PEX10):c.601-76C>G
|
|
|
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.601C>G (p.Leu201Val)
|
|
|
NM_002617.4(PEX10):c.603C>A (p.Leu201=)
|
|
|
NM_002617.4(PEX10):c.603C>T (p.Leu201=)
|
|
|
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser)
|
rs149615608
|
|
NM_002617.4(PEX10):c.604C>T (p.Arg202Cys)
|
rs149615608
|
|
NM_002617.4(PEX10):c.605G>C (p.Arg202Pro)
|
|
|
NM_002617.4(PEX10):c.606T>G (p.Arg202=)
|
rs2100423185
|
|
NM_002617.4(PEX10):c.610C>T (p.Arg204Cys)
|
|
|
NM_002617.4(PEX10):c.611G>C (p.Arg204Pro)
|
|
|
NM_002617.4(PEX10):c.618G>A (p.Leu206=)
|
|
|
NM_002617.4(PEX10):c.619C>T (p.Pro207Ser)
|
|
|
NM_002617.4(PEX10):c.61T>C (p.Tyr21His)
|
rs2100441317
|
|
NM_002617.4(PEX10):c.621C>T (p.Pro207=)
|
rs140107510
|
|
NM_002617.4(PEX10):c.622G>T (p.Gly208Ter)
|
|
|
NM_002617.4(PEX10):c.624A>G (p.Gly208=)
|
rs765658863
|
|
NM_002617.4(PEX10):c.632T>C (p.Leu211Pro)
|
|
|
NM_002617.4(PEX10):c.633G>C (p.Leu211=)
|
rs1442790649
|
|
NM_002617.4(PEX10):c.638C>T (p.Ala213Val)
|
|
|
NM_002617.4(PEX10):c.639C>T (p.Ala213=)
|
|
|
NM_002617.4(PEX10):c.63C>T (p.Tyr21=)
|
rs2100441307
|
|
NM_002617.4(PEX10):c.640C>G (p.Arg214Gly)
|
|
|
NM_002617.4(PEX10):c.640del (p.Arg214fs)
|
|
|
NM_002617.4(PEX10):c.643G>A (p.Val215Ile)
|
|
|
NM_002617.4(PEX10):c.645T>A (p.Val215=)
|
rs972385999
|
|
NM_002617.4(PEX10):c.64C>T (p.Arg22Cys)
|
|
|
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.664del (p.Val222fs)
|
|
|
NM_002617.4(PEX10):c.664dup (p.Val222fs)
|
rs1357189926
|
|
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.67G>A (p.Gly23Ser)
|
|
|
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.688C>A (p.Leu230Met)
|
rs1208421193
|
|
NM_002617.4(PEX10):c.68G>A (p.Gly23Asp)
|
rs753786568
|
|
NM_002617.4(PEX10):c.68G>C (p.Gly23Ala)
|
|
|
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer)
|
rs768893724
|
|
NM_002617.4(PEX10):c.695T>C (p.Met232Thr)
|
|
|
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.703C>T (p.Gln235Ter)
|
rs1295555837
|
|
NM_002617.4(PEX10):c.708G>A (p.Leu236=)
|
rs779713764
|
|
NM_002617.4(PEX10):c.708_709dup (p.Tyr237fs)
|
|
|
NM_002617.4(PEX10):c.712G>A (p.Gly238Ser)
|
rs61736380
|
|
NM_002617.4(PEX10):c.727C>T (p.Gln243Ter)
|
rs2100422652
|
|
NM_002617.4(PEX10):c.729G>C (p.Gln243His)
|
rs2100422638
|
|
NM_002617.4(PEX10):c.731G>A (p.Arg244Gln)
|
|
|
NM_002617.4(PEX10):c.735_738del (p.Lys247fs)
|
|
|
NM_002617.4(PEX10):c.737G>A (p.Arg246Lys)
|
rs1335499698
|
|
NM_002617.4(PEX10):c.740A>G (p.Lys247Arg)
|
rs1553231833
|
|
NM_002617.4(PEX10):c.741G>A (p.Lys247=)
|
rs1335976315
|
|
NM_002617.4(PEX10):c.742G>A (p.Glu248Lys)
|
|
|
NM_002617.4(PEX10):c.744G>C (p.Glu248Asp)
|
|
|
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
|
|
|
NM_002617.4(PEX10):c.747G>A (p.Trp249Ter)
|
rs2100422532
|
|
NM_002617.4(PEX10):c.749G>A (p.Arg250Lys)
|
|
|
NM_002617.4(PEX10):c.751C>T (p.Leu251=)
|
|
|
NM_002617.4(PEX10):c.755_756del (p.His252fs)
|
rs1325771720
|
|
NM_002617.4(PEX10):c.756C>T (p.His252=)
|
rs1370683677
|
|
NM_002617.4(PEX10):c.757C>G (p.Arg253Gly)
|
|
|
NM_002617.4(PEX10):c.757C>T (p.Arg253Cys)
|
rs756537855
|
|
NM_002617.4(PEX10):c.758G>T (p.Arg253Leu)
|
rs750769868
|
|
NM_002617.4(PEX10):c.759C>T (p.Arg253=)
|
rs767807384
|
|
NM_002617.4(PEX10):c.761del (p.Gly254fs)
|
rs1553231820
|
|
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.772C>G (p.Arg258Gly)
|
rs760632208
|
|
NM_002617.4(PEX10):c.772C>T (p.Arg258Cys)
|
|
|
NM_002617.4(PEX10):c.773_776+17del
|
|
|
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+1G>A
|
|
|
NM_002617.4(PEX10):c.776+1G>C
|
rs869312935
|
|
NM_002617.4(PEX10):c.776+4C>G
|
|
|
NM_002617.4(PEX10):c.776+4C>T
|
rs374719922
|
|
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.777-12del
|
|
|
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.778G>C (p.Ala260Pro)
|
|
|
NM_002617.4(PEX10):c.77G>A (p.Arg26Gln)
|
|
|
NM_002617.4(PEX10):c.780C>G (p.Ala260=)
|
|
|
NM_002617.4(PEX10):c.785T>G (p.Leu262Trp)
|
rs748829349
|
|
NM_002617.4(PEX10):c.786G>A (p.Leu262=)
|
|
|
NM_002617.4(PEX10):c.787GAG[1] (p.Glu264del)
|
|
|
NM_002617.4(PEX10):c.795A>C (p.Arg265Ser)
|
rs1643011506
|
|
NM_002617.4(PEX10):c.795_796del (p.Arg265fs)
|
rs1553231787
|
|
NM_002617.4(PEX10):c.799G>A (p.Val267Ile)
|
|
|
NM_002617.4(PEX10):c.810C>T (p.Asn270=)
|
|
|
NM_002617.4(PEX10):c.811C>T (p.Pro271Ser)
|
rs886043542
|
|
NM_002617.4(PEX10):c.813C>T (p.Pro271=)
|
|
|
NM_002617.4(PEX10):c.816G>A (p.Leu272=)
|
|
|
NM_002617.4(PEX10):c.817T>C (p.Cys273Arg)
|
|
|
NM_002617.4(PEX10):c.817T>G (p.Cys273Gly)
|
rs747389749
|
|
NM_002617.4(PEX10):c.819C>T (p.Cys273=)
|
rs1570098961
|
|
NM_002617.4(PEX10):c.820_828del (p.Thr274_Cys276del)
|
|
|
NM_002617.4(PEX10):c.825G>A (p.Leu275=)
|
|
|
NM_002617.4(PEX10):c.828C>T (p.Cys276=)
|
rs1570098863
|
|
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)
|
rs724160000
|
|
NM_002617.4(PEX10):c.831G>A (p.Leu277=)
|
|
|
NM_002617.4(PEX10):c.832dup (p.Glu278fs)
|
|
|
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)
|
rs62641225
|
|
NM_002617.4(PEX10):c.837G>A (p.Glu279=)
|
|
|
NM_002617.4(PEX10):c.841A>G (p.Arg281Gly)
|
rs2100421628
|
|
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.858_870del (p.Pro287fs)
|
|
|
NM_002617.4(PEX10):c.867C>T (p.Gly289=)
|
rs1189215652
|
|
NM_002617.4(PEX10):c.868dup (p.His290fs)
|
|
|
NM_002617.4(PEX10):c.87G>A (p.Ala29=)
|
rs1570123397
|
|
NM_002617.4(PEX10):c.882G>C (p.Trp294Cys)
|
|
|
NM_002617.4(PEX10):c.885G>A (p.Glu295=)
|
|
|
NM_002617.4(PEX10):c.887del (p.Cys296fs)
|
|
|
NM_002617.4(PEX10):c.899G>A (p.Trp300Ter)
|
|
|
NM_002617.4(PEX10):c.8C>T (p.Pro3Leu)
|
|
|
NM_002617.4(PEX10):c.8del (p.Pro3fs)
|
|
|
NM_002617.4(PEX10):c.903del (p.Trp300_Cys301insTer)
|
|
|
NM_002617.4(PEX10):c.905G>A (p.Ser302Asn)
|
|
|
NM_002617.4(PEX10):c.907_908insCTTA (p.Ser303delinsThrTer)
|
|
|
NM_002617.4(PEX10):c.908G>C (p.Ser303Thr)
|
rs2100421331
|
|
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.911A>G (p.Lys304Arg)
|
|
|
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+1G>C
|
rs1553231739
|
|
NM_002617.4(PEX10):c.912+20C>T
|
|
|
NM_002617.4(PEX10):c.912+8G>A
|
|
|
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.913-17del
|
|
|
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.913G>A (p.Ala305Thr)
|
rs2100419175
|
|
NM_002617.4(PEX10):c.914C>T (p.Ala305Val)
|
|
|
NM_002617.4(PEX10):c.916del (p.Glu306fs)
|
rs2100419143
|
|
NM_002617.4(PEX10):c.924C>T (p.Pro308=)
|
|
|
NM_002617.4(PEX10):c.926T>A (p.Leu309His)
|
rs1175081963
|
|
NM_002617.4(PEX10):c.928T>C (p.Cys310Arg)
|
|
|
NM_002617.4(PEX10):c.929G>A (p.Cys310Tyr)
|
|
|
NM_002617.4(PEX10):c.92G>A (p.Gly31Asp)
|
rs1643271462
|
|
NM_002617.4(PEX10):c.931C>G (p.Arg311Gly)
|
rs765965290
|
|
NM_002617.4(PEX10):c.933G>A (p.Arg311=)
|
|
|
NM_002617.4(PEX10):c.942C>T (p.Phe314=)
|
|
|
NM_002617.4(PEX10):c.944C>G (p.Pro315Arg)
|
rs2100418995
|
|
NM_002617.4(PEX10):c.945T>C (p.Pro315=)
|
|
|
NM_002617.4(PEX10):c.946C>T (p.Pro316Ser)
|
rs1642979023
|
|
NM_002617.4(PEX10):c.952A>G (p.Lys318Glu)
|
rs762351770
|
|
NM_002617.4(PEX10):c.953A>G (p.Lys318Arg)
|
rs995942123
|
|
NM_002617.4(PEX10):c.957C>T (p.Leu319=)
|
rs1458600804
|
|
NM_002617.4(PEX10):c.968G>C (p.Arg323Pro)
|
|
|
NM_002617.4(PEX10):c.96C>T (p.Ala32=)
|
|
|
NM_002617.4(PEX10):c.976C>A (p.Arg326Ser)
|
|
|
NM_002617.4(PEX10):c.976C>T (p.Arg326Cys)
|
|
|
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_002617.4(PEX10):c.9_17del (p.Ala4_Ala6del)
|
rs2100441672
|
|
NM_002618.4(PEX13):c.1003G>A (p.Gly335Ser)
|
rs1680746099
|
|
NM_002618.4(PEX13):c.1003G>C (p.Gly335Arg)
|
rs1680746099
|
|
NM_002618.4(PEX13):c.1027G>A (p.Val343Met)
|
rs1680746493
|
|
NM_002618.4(PEX13):c.1033T>A (p.Ser345Thr)
|
rs2104814598
|
|
NM_002618.4(PEX13):c.1037G>A (p.Ser346Asn)
|
|
|
NM_002618.4(PEX13):c.1040A>G (p.Lys347Arg)
|
rs2104814606
|
|
NM_002618.4(PEX13):c.1042G>A (p.Val348Ile)
|
|
|
NM_002618.4(PEX13):c.1042G>C (p.Val348Leu)
|
rs1680746855
|
|
NM_002618.4(PEX13):c.1045T>C (p.Ser349Pro)
|
rs747286284
|
|
NM_002618.4(PEX13):c.1046C>T (p.Ser349Phe)
|
rs1367527916
|
|
NM_002618.4(PEX13):c.1049A>G (p.Lys350Arg)
|
rs1052212655
|
|
NM_002618.4(PEX13):c.1052A>G (p.Gln351Arg)
|
|
|
NM_002618.4(PEX13):c.1058A>T (p.Gln353Leu)
|
|
|
NM_002618.4(PEX13):c.1071C>G (p.Asn357Lys)
|
rs1371570388
|
|
NM_002618.4(PEX13):c.1071C>T (p.Asn357=)
|
|
|
NM_002618.4(PEX13):c.1075A>G (p.Thr359Ala)
|
|
|
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.1084A>G (p.Lys362Glu)
|
|
|
NM_002618.4(PEX13):c.1088G>A (p.Gly363Glu)
|
|
|
NM_002618.4(PEX13):c.1090G>A (p.Ala364Thr)
|
rs550344775
|
|
NM_002618.4(PEX13):c.1090G>T (p.Ala364Ser)
|
rs550344775
|
|
NM_002618.4(PEX13):c.1097T>C (p.Val366Ala)
|
rs1441442802
|
|
NM_002618.4(PEX13):c.1104T>C (p.Asp368=)
|
|
|
NM_002618.4(PEX13):c.1127C>A (p.Ala376Asp)
|
rs1412376429
|
|
NM_002618.4(PEX13):c.1131T>C (p.Phe377=)
|
|
|
NM_002618.4(PEX13):c.1132G>C (p.Glu378Gln)
|
rs1167111884
|
|
NM_002618.4(PEX13):c.1138G>T (p.Val380Phe)
|
|
|
NM_002618.4(PEX13):c.113C>T (p.Thr38Ile)
|
|
|
NM_002618.4(PEX13):c.1140T>G (p.Val380=)
|
|
|
NM_002618.4(PEX13):c.1143T>A (p.Phe381Leu)
|
rs1680750260
|
|
NM_002618.4(PEX13):c.1149A>G (p.Glu383=)
|
rs2104814749
|
|
NM_002618.4(PEX13):c.1151C>G (p.Thr384Ser)
|
rs1680750357
|
|
NM_002618.4(PEX13):c.1158G>C (p.Lys386Asn)
|
rs371789976
|
|
NM_002618.4(PEX13):c.1159G>A (p.Val387Ile)
|
|
|
NM_002618.4(PEX13):c.115T>G (p.Leu39Val)
|
|
|
NM_002618.4(PEX13):c.1163C>T (p.Pro388Leu)
|
rs1203618499
|
|
NM_002618.4(PEX13):c.1169C>T (p.Ala390Val)
|
|
|
NM_002618.4(PEX13):c.1180A>G (p.Ile394Val)
|
|
|
NM_002618.4(PEX13):c.1186A>G (p.Lys396Glu)
|
rs749088744
|
|
NM_002618.4(PEX13):c.1188A>G (p.Lys396=)
|
|
|
NM_002618.4(PEX13):c.1191T>C (p.Asp397=)
|
|
|
NM_002618.4(PEX13):c.1193G>A (p.Gly398Glu)
|
rs1680751404
|
|
NM_002618.4(PEX13):c.1199A>T (p.Lys400Met)
|
|
|
NM_002618.4(PEX13):c.119T>C (p.Met40Thr)
|
|
|
NM_002618.4(PEX13):c.1203A>G (p.Gln401=)
|
rs2104814800
|
|
NM_002618.4(PEX13):c.1205A>G (p.Asp402Gly)
|
|
|
NM_002618.4(PEX13):c.121A>G (p.Thr41Ala)
|
rs757604504
|
|
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.135A>T (p.Gln45His)
|
|
|
NM_002618.4(PEX13):c.138A>G (p.Pro46=)
|
|
|
NM_002618.4(PEX13):c.145dup (p.Thr49fs)
|
|
|
NM_002618.4(PEX13):c.147C>A (p.Thr49=)
|
|
|
NM_002618.4(PEX13):c.147C>T (p.Thr49=)
|
|
|
NM_002618.4(PEX13):c.148del (p.Arg50fs)
|
|
|
NM_002618.4(PEX13):c.151G>A (p.Val51Met)
|
rs2104803197
|
|
NM_002618.4(PEX13):c.159_160del (p.Pro54fs)
|
rs2104803205
|
|
NM_002618.4(PEX13):c.163A>G (p.Ile55Val)
|
|
|
NM_002618.4(PEX13):c.174G>A (p.Arg58=)
|
|
|
NM_002618.4(PEX13):c.18A>T (p.Pro6=)
|
|
|
NM_002618.4(PEX13):c.202G>A (p.Val68Met)
|
rs1553423403
|
|
NM_002618.4(PEX13):c.204G>C (p.Val68=)
|
|
|
NM_002618.4(PEX13):c.204G>T (p.Val68=)
|
|
|
NM_002618.4(PEX13):c.206A>G (p.Asn69Ser)
|
|
|
NM_002618.4(PEX13):c.208A>G (p.Thr70Ala)
|
|
|
NM_002618.4(PEX13):c.209C>G (p.Thr70Ser)
|
rs2104803233
|
|
NM_002618.4(PEX13):c.20dup (p.Pro8fs)
|
|
|
NM_002618.4(PEX13):c.219T>C (p.Pro73=)
|
|
|
NM_002618.4(PEX13):c.222T>C (p.Ala74=)
|
|
|
NM_002618.4(PEX13):c.239C>T (p.Ser80Phe)
|
|
|
NM_002618.4(PEX13):c.23C>T (p.Pro8Leu)
|
|
|
NM_002618.4(PEX13):c.254A>G (p.Tyr85Cys)
|
|
|
NM_002618.4(PEX13):c.268T>G (p.Tyr90Asp)
|
|
|
NM_002618.4(PEX13):c.26C>A (p.Pro9His)
|
|
|
NM_002618.4(PEX13):c.26C>G (p.Pro9Arg)
|
rs764069625
|
|
NM_002618.4(PEX13):c.275G>A (p.Gly92Asp)
|
rs745620818
|
|
NM_002618.4(PEX13):c.27C>G (p.Pro9=)
|
|
|
NM_002618.4(PEX13):c.27C>T (p.Pro9=)
|
|
|
NM_002618.4(PEX13):c.27del (p.Lys10fs)
|
|
|
NM_002618.4(PEX13):c.283C>T (p.Pro95Ser)
|
rs1680451211
|
|
NM_002618.4(PEX13):c.289A>G (p.Ser97Gly)
|
|
|
NM_002618.4(PEX13):c.296G>T (p.Gly99Val)
|
|
|
NM_002618.4(PEX13):c.297A>G (p.Gly99=)
|
|
|
NM_002618.4(PEX13):c.29A>G (p.Lys10Arg)
|
rs1230492316
|
|
NM_002618.4(PEX13):c.29A>T (p.Lys10Ile)
|
|
|
NM_002618.4(PEX13):c.300T>C (p.Tyr100=)
|
rs2104803312
|
|
NM_002618.4(PEX13):c.302A>G (p.Asn101Ser)
|
rs1680451583
|
|
NM_002618.4(PEX13):c.307C>G (p.Leu103Val)
|
rs767987790
|
|
NM_002618.4(PEX13):c.309G>T (p.Leu103=)
|
|
|
NM_002618.4(PEX13):c.314A>G (p.Tyr105Cys)
|
|
|
NM_002618.4(PEX13):c.318C>T (p.Asn106=)
|
rs2104803339
|
|
NM_002618.4(PEX13):c.31C>G (p.Pro11Ala)
|
rs1680108011
|
|
NM_002618.4(PEX13):c.321C>A (p.Arg107=)
|
rs1245330810
|
|
NM_002618.4(PEX13):c.326G>C (p.Arg109Pro)
|
rs372193938
|
|
NM_002618.4(PEX13):c.32C>A (p.Pro11His)
|
rs564528921
|
|
NM_002618.4(PEX13):c.32C>G (p.Pro11Arg)
|
rs564528921
|
|
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu)
|
rs564528921
|
|
NM_002618.4(PEX13):c.33C>G (p.Pro11=)
|
rs1680108410
|
|
NM_002618.4(PEX13):c.340C>G (p.Pro114Ala)
|
|
|
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.367G>T (p.Glu123Ter)
|
rs2104803395
|
|
NM_002618.4(PEX13):c.379A>T (p.Arg127Trp)
|
rs1224323223
|
|
NM_002618.4(PEX13):c.382G>C (p.Gly128Arg)
|
|
|
NM_002618.4(PEX13):c.382G>T (p.Gly128Cys)
|
|
|
NM_002618.4(PEX13):c.383G>T (p.Gly128Val)
|
rs554152771
|
|
NM_002618.4(PEX13):c.387A>C (p.Ala129=)
|
|
|
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)
|
|
|
NM_002618.4(PEX13):c.417A>G (p.Ala139=)
|
rs886056197
|
|
NM_002618.4(PEX13):c.419T>C (p.Phe140Ser)
|
|
|
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.431G>T (p.Ser144Ile)
|
rs762747711
|
|
NM_002618.4(PEX13):c.431del (p.Ser144fs)
|
|
|
NM_002618.4(PEX13):c.447T>C (p.Ala149=)
|
|
|
NM_002618.4(PEX13):c.448A>G (p.Thr150Ala)
|
|
|
NM_002618.4(PEX13):c.458C>T (p.Ala153Val)
|
rs2104803452
|
|
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.460G>A (p.Val154Ile)
|
rs2104803454
|
|
NM_002618.4(PEX13):c.463T>C (p.Tyr155His)
|
rs2104803455
|
|
NM_002618.4(PEX13):c.465T>C (p.Tyr155=)
|
|
|
NM_002618.4(PEX13):c.468C>T (p.Asn156=)
|
|
|
NM_002618.4(PEX13):c.475A>G (p.Arg159Gly)
|
rs2104803471
|
|
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro)
|
rs1559035602
|
|
NM_002618.4(PEX13):c.484T>C (p.Leu162=)
|
|
|
NM_002618.4(PEX13):c.487G>C (p.Asp163His)
|
rs969985837
|
|
NM_002618.4(PEX13):c.488A>T (p.Asp163Val)
|
rs2104803479
|
|
NM_002618.4(PEX13):c.499del (p.His167fs)
|
rs2104803491
|
|
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.508C>A (p.Arg170=)
|
rs553968959
|
|
NM_002618.4(PEX13):c.510A>G (p.Arg170=)
|
|
|
NM_002618.4(PEX13):c.511T>C (p.Leu171=)
|
|
|
NM_002618.4(PEX13):c.520C>T (p.His174Tyr)
|
|
|
NM_002618.4(PEX13):c.53C>T (p.Pro18Leu)
|
rs2104787557
|
|
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.556A>T (p.Arg186Trp)
|
rs2104803544
|
|
NM_002618.4(PEX13):c.558G>A (p.Arg186=)
|
|
|
NM_002618.4(PEX13):c.561T>C (p.Thr187=)
|
rs1442600682
|
|
NM_002618.4(PEX13):c.562A>G (p.Ile188Val)
|
rs1360784990
|
|
NM_002618.4(PEX13):c.563T>C (p.Ile188Thr)
|
rs2104803547
|
|
NM_002618.4(PEX13):c.564A>C (p.Ile188=)
|
|
|
NM_002618.4(PEX13):c.566G>A (p.Arg189Gln)
|
rs777179456
|
|
NM_002618.4(PEX13):c.566G>T (p.Arg189Leu)
|
rs777179456
|
|
NM_002618.4(PEX13):c.567G>A (p.Arg189=)
|
|
|
NM_002618.4(PEX13):c.568T>C (p.Tyr190His)
|
rs2104803558
|
|
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.586C>T (p.Gln196Ter)
|
rs1559035738
|
|
NM_002618.4(PEX13):c.590G>A (p.Arg197Gln)
|
|
|
NM_002618.4(PEX13):c.591G>A (p.Arg197=)
|
rs2104803591
|
|
NM_002618.4(PEX13):c.594G>A (p.Met198Ile)
|
rs1388373241
|
|
NM_002618.4(PEX13):c.596T>G (p.Leu199Ter)
|
|
|
NM_002618.4(PEX13):c.59C>G (p.Ala20Gly)
|
rs2104787633
|
|
NM_002618.4(PEX13):c.605G>A (p.Arg202Lys)
|
rs1336466520
|
|
NM_002618.4(PEX13):c.60C>T (p.Ala20=)
|
|
|
NM_002618.4(PEX13):c.610G>A (p.Gly204Ser)
|
rs2104803612
|
|
NM_002618.4(PEX13):c.611G>C (p.Gly204Ala)
|
|
|
NM_002618.4(PEX13):c.612C>T (p.Gly204=)
|
rs2104803616
|
|
NM_002618.4(PEX13):c.618G>C (p.Glu206Asp)
|
rs1680458661
|
|
NM_002618.4(PEX13):c.624A>G (p.Glu208=)
|
rs2104803624
|
|
NM_002618.4(PEX13):c.625G>T (p.Asp209Tyr)
|
|
|
NM_002618.4(PEX13):c.629T>C (p.Leu210Pro)
|
|
|
NM_002618.4(PEX13):c.633G>A (p.Trp211Ter)
|
|
|
NM_002618.4(PEX13):c.640A>G (p.Ser214Gly)
|
rs2104803638
|
|
NM_002618.4(PEX13):c.641G>C (p.Ser214Thr)
|
rs1207829224
|
|
NM_002618.4(PEX13):c.647G>C (p.Gly216Ala)
|
|
|
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.662T>G (p.Leu221Arg)
|
rs1475093874
|
|
NM_002618.4(PEX13):c.669T>C (p.Ala223=)
|
|
|
NM_002618.4(PEX13):c.672G>A (p.Glu224=)
|
|
|
NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)
|
|
|
NM_002618.4(PEX13):c.67G>C (p.Gly23Arg)
|
|
|
NM_002618.4(PEX13):c.684T>G (p.Ala228=)
|
rs2104803682
|
|
NM_002618.4(PEX13):c.68G>A (p.Gly23Glu)
|
|
|
NM_002618.4(PEX13):c.696A>C (p.Lys232Asn)
|
rs1680460565
|
|
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.706A>G (p.Ile236Val)
|
rs1292217685
|
|
NM_002618.4(PEX13):c.70C>T (p.Pro24Ser)
|
|
|
NM_002618.4(PEX13):c.712T>G (p.Leu238Val)
|
rs1680460970
|
|
NM_002618.4(PEX13):c.714G>A (p.Leu238=)
|
|
|
NM_002618.4(PEX13):c.716T>C (p.Phe239Ser)
|
|
|
NM_002618.4(PEX13):c.719T>G (p.Phe240Cys)
|
|
|
NM_002618.4(PEX13):c.723T>A (p.Ala241=)
|
rs1205501080
|
|
NM_002618.4(PEX13):c.727A>G (p.Ile243Val)
|
|
|
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>G (p.Tyr248Ter)
|
|
|
NM_002618.4(PEX13):c.744C>T (p.Tyr248=)
|
|
|
NM_002618.4(PEX13):c.745C>T (p.Leu249Phe)
|
rs2104803738
|
|
NM_002618.4(PEX13):c.759A>T (p.Leu253=)
|
|
|
NM_002618.4(PEX13):c.759_760del (p.Leu254fs)
|
|
|
NM_002618.4(PEX13):c.769C>T (p.His257Tyr)
|
|
|
NM_002618.4(PEX13):c.774T>A (p.Ser258Arg)
|
|
|
NM_002618.4(PEX13):c.778G>C (p.Glu260Gln)
|
|
|
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.787+1G>A
|
rs2104803776
|
|
NM_002618.4(PEX13):c.787G>C (p.Asp263His)
|
rs766753038
|
|
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.801G>A (p.Trp267Ter)
|
|
|
NM_002618.4(PEX13):c.802G>A (p.Ala268Thr)
|
rs762797895
|
|
NM_002618.4(PEX13):c.805A>G (p.Ser269Gly)
|
|
|
NM_002618.4(PEX13):c.806G>C (p.Ser269Thr)
|
rs2104812693
|
|
NM_002618.4(PEX13):c.807T>C (p.Ser269=)
|
|
|
NM_002618.4(PEX13):c.815A>G (p.Asp272Gly)
|
rs2104812700
|
|
NM_002618.4(PEX13):c.828T>C (p.Val276=)
|
|
|
NM_002618.4(PEX13):c.829dup (p.Ala277fs)
|
rs2104812709
|
|
NM_002618.4(PEX13):c.832A>C (p.Arg278=)
|
|
|
NM_002618.4(PEX13):c.838G>C (p.Glu280Gln)
|
|
|
NM_002618.4(PEX13):c.845A>G (p.Asp282Gly)
|
rs1573560642
|
|
NM_002618.4(PEX13):c.846T>G (p.Asp282Glu)
|
|
|
NM_002618.4(PEX13):c.847T>G (p.Phe283Val)
|
rs1680696228
|
|
NM_002618.4(PEX13):c.848T>C (p.Phe283Ser)
|
|
|
NM_002618.4(PEX13):c.84C>T (p.Pro28=)
|
|
|
NM_002618.4(PEX13):c.853G>C (p.Ala285Pro)
|
rs2104812755
|
|
NM_002618.4(PEX13):c.855C>T (p.Ala285=)
|
rs1438696242
|
|
NM_002618.4(PEX13):c.855del (p.Val286fs)
|
|
|
NM_002618.4(PEX13):c.85A>G (p.Thr29Ala)
|
|
|
NM_002618.4(PEX13):c.867A>C (p.Glu289Asp)
|
|
|
NM_002618.4(PEX13):c.86C>A (p.Thr29Asn)
|
rs543856265
|
|
NM_002618.4(PEX13):c.871A>G (p.Ile291Val)
|
rs1444535263
|
|
NM_002618.4(PEX13):c.871del (p.Ile291fs)
|
|
|
NM_002618.4(PEX13):c.872T>C (p.Ile291Thr)
|
|
|
NM_002618.4(PEX13):c.883G>T (p.Ala295Ser)
|
|
|
NM_002618.4(PEX13):c.892A>T (p.Met298Leu)
|
rs2104812788
|
|
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser)
|
rs771610641
|
|
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+1G>T
|
|
|
NM_002618.4(PEX13):c.913+3A>G
|
rs2104812816
|
|
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.914-8dup
|
rs36090948
|
|
NM_002618.4(PEX13):c.915A>G (p.Glu305=)
|
|
|
NM_002618.4(PEX13):c.92+1G>A
|
|
|
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.93-1G>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.955G>C (p.Asp319His)
|
|
|
NM_002618.4(PEX13):c.957T>C (p.Asp319=)
|
|
|
NM_002618.4(PEX13):c.95C>A (p.Ser32Tyr)
|
|
|
NM_002618.4(PEX13):c.963A>G (p.Gln321=)
|
|
|
NM_002618.4(PEX13):c.965C>T (p.Thr322Ile)
|
rs920607306
|
|
NM_002618.4(PEX13):c.969A>G (p.Thr323=)
|
|
|
NM_002618.4(PEX13):c.96T>A (p.Ser32=)
|
|
|
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr)
|
rs61752115
|
|
NM_002618.4(PEX13):c.978A>G (p.Ile326Met)
|
rs1680745437
|
|
NM_002618.4(PEX13):c.981T>C (p.Pro327=)
|
|
|
NM_002618.4(PEX13):c.984G>T (p.Ala328=)
|
rs144086063
|
|
NM_002618.4(PEX13):c.98C>A (p.Ala33Asp)
|
rs1458042764
|
|
NM_002618.4(PEX13):c.990T>C (p.Tyr330=)
|
|
|
NM_002618.4(PEX13):c.995A>G (p.Lys332Arg)
|
rs1234870387
|
|
NM_002618.4(PEX13):c.9C>G (p.Ser3=)
|
rs745465894
|
|
NM_002857.4(PEX19):c.105C>T (p.Ser35=)
|
|
|
NM_002857.4(PEX19):c.115C>G (p.Pro39Ala)
|
rs144256391
|
|
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser)
|
rs144256391
|
|
NM_002857.4(PEX19):c.118T>G (p.Ser40Ala)
|
|
|
NM_002857.4(PEX19):c.11C>A (p.Ala4Asp)
|
rs766641297
|
|
NM_002857.4(PEX19):c.122_123insAGA (p.Thr41_Thr42insAsp)
|
rs2101805810
|
|
NM_002857.4(PEX19):c.128C>T (p.Thr43Met)
|
|
|
NM_002857.4(PEX19):c.132C>T (p.Ala44=)
|
rs1657875449
|
|
NM_002857.4(PEX19):c.13G>A (p.Glu5Lys)
|
|
|
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.149C>A (p.Pro50His)
|
rs11550117
|
|
NM_002857.4(PEX19):c.149C>T (p.Pro50Leu)
|
rs11550117
|
|
NM_002857.4(PEX19):c.150C>T (p.Pro50=)
|
|
|
NM_002857.4(PEX19):c.152A>G (p.Gln51Arg)
|
rs2101805717
|
|
NM_002857.4(PEX19):c.152AGA[1] (p.Lys52del)
|
rs2101805702
|
|
NM_002857.4(PEX19):c.161C>T (p.Ser54Leu)
|
rs1657873534
|
|
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.166G>A (p.Gly56Arg)
|
rs1657873152
|
|
NM_002857.4(PEX19):c.172A>G (p.Thr58Ala)
|
|
|
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.181-2A>G
|
rs2101804905
|
|
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.187C>G (p.Leu63Val)
|
rs1166824486
|
|
NM_002857.4(PEX19):c.18A>T (p.Glu6Asp)
|
|
|
NM_002857.4(PEX19):c.190T>A (p.Phe64Ile)
|
rs1657846391
|
|
NM_002857.4(PEX19):c.199C>G (p.Gln67Glu)
|
|
|
NM_002857.4(PEX19):c.19G>A (p.Gly7Ser)
|
rs963164666
|
|
NM_002857.4(PEX19):c.211T>C (p.Phe71Leu)
|
|
|
NM_002857.4(PEX19):c.212T>A (p.Phe71Tyr)
|
|
|
NM_002857.4(PEX19):c.21C>T (p.Gly7=)
|
rs140039683
|
|
NM_002857.4(PEX19):c.225C>G (p.Phe75Leu)
|
|
|
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.239C>T (p.Ala80Val)
|
|
|
NM_002857.4(PEX19):c.23G>A (p.Cys8Tyr)
|
rs369984634
|
|
NM_002857.4(PEX19):c.23G>T (p.Cys8Phe)
|
rs369984634
|
|
NM_002857.4(PEX19):c.242C>T (p.Ser81Phe)
|
rs766263544
|
|
NM_002857.4(PEX19):c.248C>G (p.Ala83Gly)
|
rs1657842985
|
|
NM_002857.4(PEX19):c.254C>A (p.Ala85Glu)
|
rs11550119
|
|
NM_002857.4(PEX19):c.262G>C (p.Glu88Gln)
|
rs372422266
|
|
NM_002857.4(PEX19):c.27T>C (p.Ser9=)
|
|
|
NM_002857.4(PEX19):c.280T>C (p.Leu94=)
|
|
|
NM_002857.4(PEX19):c.284C>A (p.Ala95Asp)
|
|
|
NM_002857.4(PEX19):c.294del (p.Glu98fs)
|
rs2101804576
|
|
NM_002857.4(PEX19):c.302T>G (p.Leu101Arg)
|
|
|
NM_002857.4(PEX19):c.305T>C (p.Val102Ala)
|
|
|
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.30C>T (p.Val10=)
|
rs144440223
|
|
NM_002857.4(PEX19):c.338G>T (p.Gly113Val)
|
rs2101804477
|
|
NM_002857.4(PEX19):c.346+15G>A
|
rs369060714
|
|
NM_002857.4(PEX19):c.346+2T>C
|
rs1657837348
|
|
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.347G>A (p.Gly116Asp)
|
rs1657814596
|
|
NM_002857.4(PEX19):c.351T>G (p.Ser117Arg)
|
rs376684423
|
|
NM_002857.4(PEX19):c.354T>C (p.Asp118=)
|
|
|
NM_002857.4(PEX19):c.360C>T (p.Thr120=)
|
|
|
NM_002857.4(PEX19):c.362C>T (p.Ser121Phe)
|
rs1557854775
|
|
NM_002857.4(PEX19):c.369A>G (p.Gln123=)
|
rs749676675
|
|
NM_002857.4(PEX19):c.381T>G (p.Ser127=)
|
|
|
NM_002857.4(PEX19):c.383G>A (p.Cys128Tyr)
|
rs2101803261
|
|
NM_002857.4(PEX19):c.384C>G (p.Cys128Trp)
|
|
|
NM_002857.4(PEX19):c.387A>G (p.Leu129=)
|
|
|
NM_002857.4(PEX19):c.395C>G (p.Thr132Arg)
|
|
|
NM_002857.4(PEX19):c.395C>T (p.Thr132Ile)
|
rs770134866
|
|
NM_002857.4(PEX19):c.397C>G (p.Leu133Val)
|
|
|
NM_002857.4(PEX19):c.413A>G (p.Lys138Arg)
|
rs745314708
|
|
NM_002857.4(PEX19):c.41C>T (p.Ala14Val)
|
rs1657957953
|
|
NM_002857.4(PEX19):c.42G>C (p.Ala14=)
|
rs1357331804
|
|
NM_002857.4(PEX19):c.432+15G>C
|
rs1243733740
|
|
NM_002857.4(PEX19):c.432+3G>A
|
|
|
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.441C>T (p.Ser147=)
|
rs745392627
|
|
NM_002857.4(PEX19):c.446C>T (p.Ser149Leu)
|
|
|
NM_002857.4(PEX19):c.447G>C (p.Ser149=)
|
|
|
NM_002857.4(PEX19):c.45C>G (p.Asp15Glu)
|
rs2101810529
|
|
NM_002857.4(PEX19):c.46A>T (p.Arg16Trp)
|
|
|
NM_002857.4(PEX19):c.474G>C (p.Glu158Asp)
|
|
|
NM_002857.4(PEX19):c.475G>A (p.Gly159Arg)
|
|
|
NM_002857.4(PEX19):c.477G>A (p.Gly159=)
|
|
|
NM_002857.4(PEX19):c.481G>C (p.Gly161Arg)
|
rs2101802695
|
|
NM_002857.4(PEX19):c.483C>T (p.Gly161=)
|
|
|
NM_002857.4(PEX19):c.484A>G (p.Met162Val)
|
|
|
NM_002857.4(PEX19):c.485T>C (p.Met162Thr)
|
|
|
NM_002857.4(PEX19):c.499G>A (p.Gly167Arg)
|
|
|
NM_002857.4(PEX19):c.506G>A (p.Gly169Glu)
|
rs748793476
|
|
NM_002857.4(PEX19):c.513C>T (p.Ile171=)
|
|
|
NM_002857.4(PEX19):c.51A>C (p.Glu17Asp)
|
rs1657957259
|
|
NM_002857.4(PEX19):c.523A>G (p.Met175Val)
|
rs886044114
|
|
NM_002857.4(PEX19):c.524T>C (p.Met175Thr)
|
|
|
NM_002857.4(PEX19):c.526C>T (p.Gln176Ter)
|
|
|
NM_002857.4(PEX19):c.527A>C (p.Gln176Pro)
|
rs1231019046
|
|
NM_002857.4(PEX19):c.530G>A (p.Ser177Asn)
|
|
|
NM_002857.4(PEX19):c.532A>G (p.Ile178Val)
|
rs2101802538
|
|
NM_002857.4(PEX19):c.543C>T (p.Asn181=)
|
|
|
NM_002857.4(PEX19):c.547C>T (p.Leu183Phe)
|
rs1351664822
|
|
NM_002857.4(PEX19):c.563T>C (p.Leu188Pro)
|
|
|
NM_002857.4(PEX19):c.567C>T (p.Tyr189=)
|
rs2101802465
|
|
NM_002857.4(PEX19):c.573A>C (p.Ser191=)
|
|
|
NM_002857.4(PEX19):c.574C>G (p.Leu192Val)
|
|
|
NM_002857.4(PEX19):c.575T>C (p.Leu192Pro)
|
|
|
NM_002857.4(PEX19):c.577A>T (p.Lys193Ter)
|
|
|
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+1G>C
|
|
|
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.5C>T (p.Ala2Val)
|
rs1307265959
|
|
NM_002857.4(PEX19):c.600A>G (p.Pro200=)
|
|
|
NM_002857.4(PEX19):c.615T>A (p.Ser205Arg)
|
rs2101800172
|
|
NM_002857.4(PEX19):c.617A>G (p.His206Arg)
|
rs761372588
|
|
NM_002857.4(PEX19):c.617A>T (p.His206Leu)
|
rs761372588
|
|
NM_002857.4(PEX19):c.619C>G (p.Arg207Gly)
|
rs367813991
|
|
NM_002857.4(PEX19):c.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.634C>A (p.Pro212Thr)
|
|
|
NM_002857.4(PEX19):c.644T>C (p.Phe215Ser)
|
rs2101800093
|
|
NM_002857.4(PEX19):c.654T>C (p.Tyr218=)
|
|
|
NM_002857.4(PEX19):c.661C>G (p.Gln221Glu)
|
|
|
NM_002857.4(PEX19):c.679A>G (p.Lys227Glu)
|
|
|
NM_002857.4(PEX19):c.68A>C (p.Glu23Ala)
|
|
|
NM_002857.4(PEX19):c.692A>G (p.Gln231Arg)
|
|
|
NM_002857.4(PEX19):c.694T>G (p.Phe232Val)
|
rs2101799984
|
|
NM_002857.4(PEX19):c.699G>T (p.Glu233Asp)
|
|
|
NM_002857.4(PEX19):c.69A>G (p.Glu23=)
|
rs1657956169
|
|
NM_002857.4(PEX19):c.69A>T (p.Glu23Asp)
|
|
|
NM_002857.4(PEX19):c.6C>T (p.Ala2=)
|
|
|
NM_002857.4(PEX19):c.70+18del
|
rs1254590800
|
|
NM_002857.4(PEX19):c.70+2T>G
|
|
|
NM_002857.4(PEX19):c.70+5G>C
|
rs1158588649
|
|
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.703_704delinsAT (p.Glu235Met)
|
rs1557853548
|
|
NM_002857.4(PEX19):c.706A>G (p.Thr236Ala)
|
rs1040267504
|
|
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.713C>A (p.Thr238Lys)
|
|
|
NM_002857.4(PEX19):c.726C>T (p.Thr242=)
|
rs564013133
|
|
NM_002857.4(PEX19):c.740G>A (p.Arg247His)
|
|
|
NM_002857.4(PEX19):c.744T>A (p.Phe248Leu)
|
|
|
NM_002857.4(PEX19):c.744T>G (p.Phe248Leu)
|
rs1473774134
|
|
NM_002857.4(PEX19):c.751G>A (p.Val251Met)
|
|
|
NM_002857.4(PEX19):c.754C>A (p.Leu252Met)
|
|
|
NM_002857.4(PEX19):c.759T>A (p.Asp253Glu)
|
|
|
NM_002857.4(PEX19):c.771+12T>A
|
rs753423401
|
|
NM_002857.4(PEX19):c.771+5G>A
|
rs2101799795
|
|
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.779A>G (p.Asp260Gly)
|
|
|
NM_002857.4(PEX19):c.784G>A (p.Gly262Ser)
|
|
|
NM_002857.4(PEX19):c.788A>G (p.His263Arg)
|
rs762620480
|
|
NM_002857.4(PEX19):c.808G>A (p.Gly270Arg)
|
rs1657696746
|
|
NM_002857.4(PEX19):c.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.817-9C>A
|
rs2101799148
|
|
NM_002857.4(PEX19):c.817C>A (p.Pro273Thr)
|
rs760797797
|
|
NM_002857.4(PEX19):c.825C>T (p.Gly275=)
|
|
|
NM_002857.4(PEX19):c.842A>G (p.Asp281Gly)
|
rs2101799102
|
|
NM_002857.4(PEX19):c.843T>C (p.Asp281=)
|
|
|
NM_002857.4(PEX19):c.854T>C (p.Leu285Pro)
|
|
|
NM_002857.4(PEX19):c.857C>T (p.Ser286Leu)
|
rs149976198
|
|
NM_002857.4(PEX19):c.859G>T (p.Gly287Cys)
|
|
|
NM_002857.4(PEX19):c.869G>C (p.Gly290Ala)
|
|
|
NM_002857.4(PEX19):c.86del (p.Phe29fs)
|
|
|
NM_002857.4(PEX19):c.878G>A (p.Gly293Asp)
|
|
|
NM_002857.4(PEX19):c.883C>A (p.Gln295Lys)
|
|
|
NM_002857.4(PEX19):c.886T>C (p.Cys296Arg)
|
rs1557853173
|
|
NM_002857.4(PEX19):c.887G>A (p.Cys296Tyr)
|
rs1326449698
|
|
NM_002857.4(PEX19):c.896T>C (p.Met299Thr)
|
rs2101798984
|
|
NM_002857.4(PEX19):c.94G>C (p.Ala32Pro)
|
|
|
NM_002857.4(PEX19):c.94G>T (p.Ala32Ser)
|
|
|
NM_002857.4(PEX19):c.98A>G (p.Lys33Arg)
|
|
|
NM_002857.4(PEX19):c.9del (p.Ala4fs)
|
|
|
NM_004565.2(PEX14):c.987_995dup (p.Asp331_Asp332insGluGluAsp)
|
rs1318692969
|
|
NM_004565.3(PEX14):c.1000G>A (p.Val334Met)
|
rs2124650794
|
|
NM_004565.3(PEX14):c.1008T>C (p.His336=)
|
|
|
NM_004565.3(PEX14):c.1008T>G (p.His336Gln)
|
rs770817636
|
|
NM_004565.3(PEX14):c.1010T>C (p.Val337Ala)
|
rs1258983860
|
|
NM_004565.3(PEX14):c.1013_1014inv (p.Asp338Gly)
|
|
|
NM_004565.3(PEX14):c.1015G>A (p.Glu339Lys)
|
rs1570377732
|
|
NM_004565.3(PEX14):c.101A>G (p.Lys34Arg)
|
rs2124482101
|
|
NM_004565.3(PEX14):c.1020G>A (p.Glu340=)
|
|
|
NM_004565.3(PEX14):c.1024_1047del (p.Cys342_Asp349del)
|
rs749458457
|
|
NM_004565.3(PEX14):c.1030G>C (p.Gly344Arg)
|
|
|
NM_004565.3(PEX14):c.1032G>A (p.Gly344=)
|
rs11539794
|
|
NM_004565.3(PEX14):c.1033G>A (p.Val345Met)
|
|
|
NM_004565.3(PEX14):c.1035G>C (p.Val345=)
|
|
|
NM_004565.3(PEX14):c.1036C>A (p.Gln346Lys)
|
|
|
NM_004565.3(PEX14):c.1036C>G (p.Gln346Glu)
|
|
|
NM_004565.3(PEX14):c.1047C>T (p.Asp349=)
|
rs1285512085
|
|
NM_004565.3(PEX14):c.1048C>T (p.Arg350Cys)
|
rs1641869464
|
|
NM_004565.3(PEX14):c.1051C>T (p.Arg351Trp)
|
|
|
NM_004565.3(PEX14):c.1052G>C (p.Arg351Pro)
|
|
|
NM_004565.3(PEX14):c.1057G>A (p.Gly353Arg)
|
rs1641870710
|
|
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.1093C>T (p.Arg365Trp)
|
rs904521069
|
|
NM_004565.3(PEX14):c.109C>T (p.Gln37Ter)
|
|
|
NM_004565.3(PEX14):c.1108G>T (p.Ala370Ser)
|
rs1557443140
|
|
NM_004565.3(PEX14):c.1119G>C (p.Glu373Asp)
|
|
|
NM_004565.3(PEX14):c.1120A>C (p.Ser374Arg)
|
rs2124651161
|
|
NM_004565.3(PEX14):c.1120_1121del (p.Glu373_Ser374insTer)
|
rs2124651144
|
|
NM_004565.3(PEX14):c.1124A>C (p.Glu375Ala)
|
rs1337084727
|
|
NM_004565.3(PEX14):c.1131C>T (p.Asp377=)
|
rs2124651209
|
|
NM_004565.3(PEX14):c.119G>A (p.Arg40Gln)
|
rs573113329
|
|
NM_004565.3(PEX14):c.129G>A (p.Gln43=)
|
|
|
NM_004565.3(PEX14):c.133C>T (p.Pro45Ser)
|
|
|
NM_004565.3(PEX14):c.140C>A (p.Ala47Glu)
|
rs2124482219
|
|
NM_004565.3(PEX14):c.150A>G (p.Arg50=)
|
|
|
NM_004565.3(PEX14):c.154T>C (p.Phe52Leu)
|
rs2124482255
|
|
NM_004565.3(PEX14):c.15G>A (p.Glu5=)
|
|
|
NM_004565.3(PEX14):c.168A>G (p.Lys56=)
|
|
|
NM_004565.3(PEX14):c.169+12dup
|
|
|
NM_004565.3(PEX14):c.169+17G>A
|
rs758302680
|
|
NM_004565.3(PEX14):c.169+4C>T
|
|
|
NM_004565.3(PEX14):c.16C>G (p.Gln6Glu)
|
|
|
NM_004565.3(PEX14):c.190G>A (p.Asp64Asn)
|
rs535743906
|
|
NM_004565.3(PEX14):c.19G>A (p.Ala7Thr)
|
|
|
NM_004565.3(PEX14):c.204_298+125delinsTATTCCTT
|
|
|
NM_004565.3(PEX14):c.20C>T (p.Ala7Val)
|
rs759852702
|
|
NM_004565.3(PEX14):c.229C>T (p.Pro77Ser)
|
|
|
NM_004565.3(PEX14):c.22G>C (p.Glu8Gln)
|
rs2124356750
|
|
NM_004565.3(PEX14):c.236C>T (p.Ser79Phe)
|
|
|
NM_004565.3(PEX14):c.245C>T (p.Pro82Leu)
|
|
|
NM_004565.3(PEX14):c.247G>A (p.Ala83Thr)
|
rs1557866347
|
|
NM_004565.3(PEX14):c.252A>T (p.Thr84=)
|
|
|
NM_004565.3(PEX14):c.259G>A (p.Val87Ile)
|
|
|
NM_004565.3(PEX14):c.269A>G (p.Gln90Arg)
|
rs1640919599
|
|
NM_004565.3(PEX14):c.26A>G (p.Gln9Arg)
|
rs201979629
|
|
NM_004565.3(PEX14):c.271C>G (p.Pro91Ala)
|
rs2124602763
|
|
NM_004565.3(PEX14):c.279C>A (p.His93Gln)
|
rs1238733367
|
|
NM_004565.3(PEX14):c.281T>G (p.Leu94Arg)
|
|
|
NM_004565.3(PEX14):c.286T>G (p.Ser96Ala)
|
rs2124602826
|
|
NM_004565.3(PEX14):c.28C>T (p.Pro10Ser)
|
rs1007978005
|
|
NM_004565.3(PEX14):c.295T>C (p.Tyr99His)
|
rs2124602853
|
|
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+1G>C
|
|
|
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.299-5_306del
|
|
|
NM_004565.3(PEX14):c.299-7C>T
|
|
|
NM_004565.3(PEX14):c.299-8G>A
|
rs112851814
|
|
NM_004565.3(PEX14):c.299-8G>T
|
rs112851814
|
|
NM_004565.3(PEX14):c.304G>T (p.Ala102Ser)
|
rs753731034
|
|
NM_004565.3(PEX14):c.306A>G (p.Ala102=)
|
|
|
NM_004565.3(PEX14):c.31A>G (p.Ser11Gly)
|
rs896802943
|
|
NM_004565.3(PEX14):c.31A>T (p.Ser11Cys)
|
rs896802943
|
|
NM_004565.3(PEX14):c.32G>A (p.Ser11Asn)
|
rs2124356828
|
|
NM_004565.3(PEX14):c.334C>G (p.Leu112Val)
|
|
|
NM_004565.3(PEX14):c.33C>T (p.Ser11=)
|
rs1276166187
|
|
NM_004565.3(PEX14):c.345C>A (p.Ile115=)
|
|
|
NM_004565.3(PEX14):c.345C>G (p.Ile115Met)
|
|
|
NM_004565.3(PEX14):c.356T>C (p.Ile119Thr)
|
|
|
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+1G>T
|
rs1641167602
|
|
NM_004565.3(PEX14):c.36+3A>G
|
rs2124356856
|
|
NM_004565.3(PEX14):c.36+5G>A
|
rs756953282
|
|
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.370C>T (p.His124Tyr)
|
|
|
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.395T>C (p.Leu132Pro)
|
rs1553121467
|
|
NM_004565.3(PEX14):c.413G>A (p.Gly138Asp)
|
rs1641640630
|
|
NM_004565.3(PEX14):c.416G>T (p.Arg139Leu)
|
rs147683525
|
|
NM_004565.3(PEX14):c.417A>G (p.Arg139=)
|
rs1641641102
|
|
NM_004565.3(PEX14):c.421G>A (p.Asp141Asn)
|
rs1641641278
|
|
NM_004565.3(PEX14):c.425G>A (p.Arg142Lys)
|
rs1641641457
|
|
NM_004565.3(PEX14):c.428A>G (p.Lys143Arg)
|
rs2124639369
|
|
NM_004565.3(PEX14):c.429G>A (p.Lys143=)
|
rs2124639380
|
|
NM_004565.3(PEX14):c.442A>T (p.Met148Leu)
|
|
|
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.485C>A (p.Thr162Lys)
|
rs2124639470
|
|
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.4_5delinsTT (p.Ala2Leu)
|
rs2124356650
|
|
NM_004565.3(PEX14):c.510C>G (p.Leu170=)
|
rs1319304159
|
|
NM_004565.3(PEX14):c.517G>A (p.Val173Ile)
|
rs200019568
|
|
NM_004565.3(PEX14):c.519C>G (p.Val173=)
|
|
|
NM_004565.3(PEX14):c.525G>A (p.Glu175=)
|
|
|
NM_004565.3(PEX14):c.535C>G (p.Gln179Glu)
|
|
|
NM_004565.3(PEX14):c.543G>A (p.Gln181=)
|
rs1557438039
|
|
NM_004565.3(PEX14):c.566A>G (p.His189Arg)
|
|
|
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+19C>T
|
|
|
NM_004565.3(PEX14):c.585+23_585+32dup
|
rs566024461
|
|
NM_004565.3(PEX14):c.585+4C>A
|
rs1283396816
|
|
NM_004565.3(PEX14):c.585G>A (p.Lys195=)
|
|
|
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.596C>G (p.Ser199Cys)
|
rs932537713
|
|
NM_004565.3(PEX14):c.600C>T (p.Thr200=)
|
rs1375932150
|
|
NM_004565.3(PEX14):c.602A>C (p.Asn201Thr)
|
rs142285791
|
|
NM_004565.3(PEX14):c.610C>T (p.Leu204=)
|
|
|
NM_004565.3(PEX14):c.626T>C (p.Ile209Thr)
|
rs758355392
|
|
NM_004565.3(PEX14):c.629A>G (p.Asn210Ser)
|
|
|
NM_004565.3(PEX14):c.630C>T (p.Asn210=)
|
|
|
NM_004565.3(PEX14):c.631G>A (p.Glu211Lys)
|
rs777737482
|
|
NM_004565.3(PEX14):c.631G>C (p.Glu211Gln)
|
|
|
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.646A>C (p.Ile216Leu)
|
rs898010278
|
|
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.677+6_677+8del
|
|
|
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.697C>G (p.Pro233Ala)
|
|
|
NM_004565.3(PEX14):c.699A>G (p.Pro233=)
|
|
|
NM_004565.3(PEX14):c.700T>G (p.Ser234Ala)
|
|
|
NM_004565.3(PEX14):c.703G>C (p.Ala235Pro)
|
rs778227279
|
|
NM_004565.3(PEX14):c.707C>T (p.Pro236Leu)
|
rs141373791
|
|
NM_004565.3(PEX14):c.709A>G (p.Lys237Glu)
|
|
|
NM_004565.3(PEX14):c.70C>T (p.Pro24Ser)
|
|
|
NM_004565.3(PEX14):c.715C>T (p.Pro239Ser)
|
rs745559681
|
|
NM_004565.3(PEX14):c.721T>C (p.Trp241Arg)
|
rs2124649865
|
|
NM_004565.3(PEX14):c.738G>A (p.Lys246=)
|
rs2124649880
|
|
NM_004565.3(PEX14):c.743C>A (p.Pro248Gln)
|
rs553512429
|
|
NM_004565.3(PEX14):c.74G>A (p.Arg25Gln)
|
|
|
NM_004565.3(PEX14):c.752C>T (p.Ser251Phe)
|
rs1160685953
|
|
NM_004565.3(PEX14):c.753C>T (p.Ser251=)
|
|
|
NM_004565.3(PEX14):c.758del (p.Pro253fs)
|
rs35723571
|
|
NM_004565.3(PEX14):c.761C>T (p.Ala254Val)
|
rs149265608
|
|
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.767T>C (p.Val256Ala)
|
|
|
NM_004565.3(PEX14):c.76G>A (p.Glu26Lys)
|
rs748746721
|
|
NM_004565.3(PEX14):c.777C>T (p.His259=)
|
rs1641852488
|
|
NM_004565.3(PEX14):c.806A>C (p.Asn269Thr)
|
|
|
NM_004565.3(PEX14):c.80C>T (p.Pro27Leu)
|
rs1161833863
|
|
NM_004565.3(PEX14):c.813C>A (p.Ser271=)
|
|
|
NM_004565.3(PEX14):c.815C>T (p.Thr272Met)
|
|
|
NM_004565.3(PEX14):c.816GTC[1] (p.Ser275del)
|
rs1641853895
|
|
NM_004565.3(PEX14):c.81G>A (p.Pro27=)
|
rs1557810674
|
|
NM_004565.3(PEX14):c.81G>T (p.Pro27=)
|
|
|
NM_004565.3(PEX14):c.820T>C (p.Ser274Pro)
|
|
|
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.850G>A (p.Glu284Lys)
|
rs763093176
|
|
NM_004565.3(PEX14):c.854_859dup (p.Ser286_Thr287insSerSer)
|
rs1641856216
|
|
NM_004565.3(PEX14):c.856T>C (p.Ser286Pro)
|
|
|
NM_004565.3(PEX14):c.857C>T (p.Ser286Phe)
|
|
|
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.862G>A (p.Val288Ile)
|
rs1207319506
|
|
NM_004565.3(PEX14):c.87T>C (p.Ile29=)
|
|
|
NM_004565.3(PEX14):c.881G>A (p.Gly294Asp)
|
|
|
NM_004565.3(PEX14):c.882C>A (p.Gly294=)
|
|
|
NM_004565.3(PEX14):c.882C>T (p.Gly294=)
|
|
|
NM_004565.3(PEX14):c.883C>A (p.Pro295Thr)
|
rs886045017
|
|
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser)
|
rs886045017
|
|
NM_004565.3(PEX14):c.889G>A (p.Glu297Lys)
|
rs2124650376
|
|
NM_004565.3(PEX14):c.890A>C (p.Glu297Ala)
|
|
|
NM_004565.3(PEX14):c.904G>C (p.Val302Leu)
|
|
|
NM_004565.3(PEX14):c.908T>C (p.Val303Ala)
|
rs1160257639
|
|
NM_004565.3(PEX14):c.913G>A (p.Val305Ile)
|
|
|
NM_004565.3(PEX14):c.918G>A (p.Lys306=)
|
|
|
NM_004565.3(PEX14):c.92C>T (p.Thr31Met)
|
rs1570228034
|
|
NM_004565.3(PEX14):c.937G>A (p.Val313Met)
|
|
|
NM_004565.3(PEX14):c.946G>A (p.Glu316Lys)
|
rs903736101
|
|
NM_004565.3(PEX14):c.946GAG[2] (p.Glu318del)
|
rs1557442698
|
|
NM_004565.3(PEX14):c.957G>A (p.Lys319=)
|
|
|
NM_004565.3(PEX14):c.959_967del (p.Arg320_Asp322del)
|
rs2124650605
|
|
NM_004565.3(PEX14):c.964G>T (p.Asp322Tyr)
|
|
|
NM_004565.3(PEX14):c.967A>G (p.Lys323Glu)
|
rs368244738
|
|
NM_004565.3(PEX14):c.969G>A (p.Lys323=)
|
|
|
NM_004565.3(PEX14):c.970G>A (p.Glu324Lys)
|
rs1641863492
|
|
NM_004565.3(PEX14):c.976G>A (p.Glu326Lys)
|
rs748930085
|
|
NM_004565.3(PEX14):c.984T>C (p.Asp328=)
|
rs2124650721
|
|
NM_004565.3(PEX14):c.992ATG[2] (p.Asp333del)
|
rs760231440
|
|
NM_004565.3(PEX14):c.992ATG[4] (p.Asp333dup)
|
rs760231440
|
|
NM_004565.3(PEX14):c.997G>T (p.Asp333Tyr)
|
rs2124650787
|
|
NM_004565.3(PEX14):c.99G>C (p.Val33=)
|
rs1239507203
|
|
NM_004813.4(PEX16):c.1001G>A (p.Ser334Asn)
|
|
|
NM_004813.4(PEX16):c.1001G>C (p.Ser334Thr)
|
|
|
NM_004813.4(PEX16):c.102C>T (p.Tyr34=)
|
rs1293863814
|
|
NM_004813.4(PEX16):c.103C>G (p.Leu35Val)
|
rs1427588700
|
|
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+2T>G
|
rs1590798080
|
|
NM_004813.4(PEX16):c.112+5C>A
|
|
|
NM_004813.4(PEX16):c.112+5C>T
|
|
|
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.115C>T (p.Arg39Ter)
|
rs2134699162
|
|
NM_004813.4(PEX16):c.119T>A (p.Phe40Tyr)
|
|
|
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.134A>T (p.Glu45Val)
|
rs2134699091
|
|
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.149-2A>G
|
|
|
NM_004813.4(PEX16):c.149-3C>T
|
|
|
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.165C>G (p.Asn55Lys)
|
rs746381331
|
|
NM_004813.4(PEX16):c.169C>T (p.Leu57Phe)
|
rs1224855761
|
|
NM_004813.4(PEX16):c.16C>T (p.Leu6Phe)
|
rs2086855399
|
|
NM_004813.4(PEX16):c.170T>C (p.Leu57Pro)
|
rs2086834282
|
|
NM_004813.4(PEX16):c.171T>G (p.Leu57=)
|
rs2134697056
|
|
NM_004813.4(PEX16):c.172G>A (p.Val58Met)
|
rs1287709761
|
|
NM_004813.4(PEX16):c.175C>T (p.Leu59=)
|
rs2134697038
|
|
NM_004813.4(PEX16):c.177G>C (p.Leu59=)
|
|
|
NM_004813.4(PEX16):c.178C>G (p.Leu60Val)
|
rs2086834164
|
|
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.206T>G (p.Leu69Arg)
|
rs761652611
|
|
NM_004813.4(PEX16):c.216G>C (p.Lys72Asn)
|
|
|
NM_004813.4(PEX16):c.221C>T (p.Pro74Leu)
|
|
|
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.225+3G>A
|
|
|
NM_004813.4(PEX16):c.226-16C>T
|
|
|
NM_004813.4(PEX16):c.226-21_226-19del
|
|
|
NM_004813.4(PEX16):c.226-2A>C
|
|
|
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.230T>C (p.Leu77Pro)
|
rs2086828379
|
|
NM_004813.4(PEX16):c.237G>A (p.Gln79=)
|
|
|
NM_004813.4(PEX16):c.238C>T (p.Gln80Ter)
|
|
|
NM_004813.4(PEX16):c.244C>T (p.Leu82=)
|
|
|
NM_004813.4(PEX16):c.258G>C (p.Leu86=)
|
|
|
NM_004813.4(PEX16):c.25C>T (p.Leu9Phe)
|
rs1369455274
|
|
NM_004813.4(PEX16):c.261C>T (p.Ser87=)
|
rs780266965
|
|
NM_004813.4(PEX16):c.262G>T (p.Val88Leu)
|
rs567165324
|
|
NM_004813.4(PEX16):c.276G>C (p.Val92=)
|
|
|
NM_004813.4(PEX16):c.293T>C (p.Met98Thr)
|
rs755886932
|
|
NM_004813.4(PEX16):c.303C>A (p.Ala101=)
|
rs80275010
|
|
NM_004813.4(PEX16):c.306G>A (p.Lys102=)
|
|
|
NM_004813.4(PEX16):c.306G>C (p.Lys102Asn)
|
rs2134696027
|
|
NM_004813.4(PEX16):c.307G>C (p.Val103Leu)
|
rs11553094
|
|
NM_004813.4(PEX16):c.310T>C (p.Trp104Arg)
|
|
|
NM_004813.4(PEX16):c.311G>A (p.Trp104Ter)
|
|
|
NM_004813.4(PEX16):c.312G>A (p.Trp104Ter)
|
|
|
NM_004813.4(PEX16):c.319G>A (p.Val107Met)
|
|
|
NM_004813.4(PEX16):c.324C>T (p.Gly108=)
|
rs2134695939
|
|
NM_004813.4(PEX16):c.334G>A (p.Val112Ile)
|
|
|
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.346= (p.Val116=)
|
|
|
NM_004813.4(PEX16):c.348C>T (p.Val116=)
|
rs886048328
|
|
NM_004813.4(PEX16):c.34C>A (p.Gln12Lys)
|
rs2086854813
|
|
NM_004813.4(PEX16):c.357C>T (p.Ala119=)
|
rs2134695800
|
|
NM_004813.4(PEX16):c.359+13del
|
rs775047767
|
|
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+1G>A
|
|
|
NM_004813.4(PEX16):c.359+7dup
|
|
|
NM_004813.4(PEX16):c.359A>T (p.Lys120Met)
|
rs1431364536
|
|
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.360-18A>G
|
|
|
NM_004813.4(PEX16):c.360-6A>T
|
|
|
NM_004813.4(PEX16):c.360-9C>A
|
rs1316866259
|
|
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.389G>C (p.Trp130Ser)
|
|
|
NM_004813.4(PEX16):c.418C>A (p.Pro140Thr)
|
rs749891033
|
|
NM_004813.4(PEX16):c.418C>G (p.Pro140Ala)
|
rs749891033
|
|
NM_004813.4(PEX16):c.419C>A (p.Pro140His)
|
|
|
NM_004813.4(PEX16):c.421A>C (p.Ile141Leu)
|
rs761426585
|
|
NM_004813.4(PEX16):c.424G>A (p.Val142Ile)
|
|
|
NM_004813.4(PEX16):c.430C>T (p.Leu144=)
|
|
|
NM_004813.4(PEX16):c.437G>A (p.Arg146Lys)
|
|
|
NM_004813.4(PEX16):c.438A>G (p.Arg146=)
|
|
|
NM_004813.4(PEX16):c.442A>T (p.Thr148Ser)
|
|
|
NM_004813.4(PEX16):c.446dup (p.Ala150fs)
|
rs2134695309
|
|
NM_004813.4(PEX16):c.459G>A (p.Pro153=)
|
rs377135763
|
|
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+3G>A
|
|
|
NM_004813.4(PEX16):c.460+5G>A
|
rs2134695257
|
|
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.461-6T>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.463G>A (p.Gly155Ser)
|
rs2134693988
|
|
NM_004813.4(PEX16):c.464G>A (p.Gly155Asp)
|
|
|
NM_004813.4(PEX16):c.468C>T (p.Asp156=)
|
|
|
NM_004813.4(PEX16):c.469C>A (p.His157Asn)
|
rs2134693966
|
|
NM_004813.4(PEX16):c.471C>T (p.His157=)
|
rs2134693951
|
|
NM_004813.4(PEX16):c.485A>G (p.His162Arg)
|
|
|
NM_004813.4(PEX16):c.488A>G (p.Glu163Gly)
|
|
|
NM_004813.4(PEX16):c.489G>A (p.Glu163=)
|
|
|
NM_004813.4(PEX16):c.492G>A (p.Gln164=)
|
|
|
NM_004813.4(PEX16):c.493T>C (p.Ser165Pro)
|
|
|
NM_004813.4(PEX16):c.494C>A (p.Ser165Tyr)
|
rs2086814861
|
|
NM_004813.4(PEX16):c.512C>A (p.Ser171Ter)
|
|
|
NM_004813.4(PEX16):c.525G>A (p.Val175=)
|
rs936507537
|
|
NM_004813.4(PEX16):c.527G>A (p.Arg176Gln)
|
|
|
NM_004813.4(PEX16):c.534C>G (p.Leu178=)
|
rs2134693776
|
|
NM_004813.4(PEX16):c.535C>T (p.Gln179Ter)
|
|
|
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.554A>G (p.His185Arg)
|
rs751814237
|
|
NM_004813.4(PEX16):c.564C>T (p.His188=)
|
|
|
NM_004813.4(PEX16):c.574C>T (p.Pro192Ser)
|
|
|
NM_004813.4(PEX16):c.57G>A (p.Pro19=)
|
|
|
NM_004813.4(PEX16):c.584G>A (p.Arg195Gln)
|
|
|
NM_004813.4(PEX16):c.584G>T (p.Arg195Leu)
|
|
|
NM_004813.4(PEX16):c.585G>A (p.Arg195=)
|
|
|
NM_004813.4(PEX16):c.58del (p.Ala20fs)
|
|
|
NM_004813.4(PEX16):c.594G>A (p.Arg198=)
|
|
|
NM_004813.4(PEX16):c.595C>A (p.Gln199Lys)
|
rs770726448
|
|
NM_004813.4(PEX16):c.595C>T (p.Gln199Ter)
|
|
|
NM_004813.4(PEX16):c.599A>G (p.Gln200Arg)
|
rs772953974
|
|
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.635C>T (p.Pro212Leu)
|
|
|
NM_004813.4(PEX16):c.636C>A (p.Pro212=)
|
|
|
NM_004813.4(PEX16):c.636C>G (p.Pro212=)
|
|
|
NM_004813.4(PEX16):c.637C>G (p.Leu213Val)
|
|
|
NM_004813.4(PEX16):c.643C>T (p.Leu215=)
|
|
|
NM_004813.4(PEX16):c.649_651del (p.Glu217del)
|
rs1403262719
|
|
NM_004813.4(PEX16):c.651G>T (p.Glu217Asp)
|
rs761544516
|
|
NM_004813.4(PEX16):c.653C>A (p.Thr218Asn)
|
|
|
NM_004813.4(PEX16):c.654C>T (p.Thr218=)
|
|
|
NM_004813.4(PEX16):c.659C>T (p.Ala220Val)
|
rs2134692997
|
|
NM_004813.4(PEX16):c.65_71del (p.Thr22fs)
|
rs2134699707
|
|
NM_004813.4(PEX16):c.666T>C (p.Phe222=)
|
|
|
NM_004813.4(PEX16):c.672C>T (p.Tyr224=)
|
rs746173483
|
|
NM_004813.4(PEX16):c.673A>G (p.Ile225Val)
|
|
|
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.686T>C (p.Leu229Pro)
|
|
|
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+1G>A
|
rs2134692847
|
|
NM_004813.4(PEX16):c.694+20G>A
|
rs2134692802
|
|
NM_004813.4(PEX16):c.694+6C>A
|
rs2134692834
|
|
NM_004813.4(PEX16):c.694+7T>A
|
rs2134692830
|
|
NM_004813.4(PEX16):c.695-13C>A
|
|
|
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.700A>G (p.Ser234Gly)
|
|
|
NM_004813.4(PEX16):c.703C>G (p.Leu235Val)
|
rs765315257
|
|
NM_004813.4(PEX16):c.703C>T (p.Leu235=)
|
|
|
NM_004813.4(PEX16):c.705G>C (p.Leu235=)
|
|
|
NM_004813.4(PEX16):c.707G>T (p.Gly236Val)
|
rs2134692571
|
|
NM_004813.4(PEX16):c.714G>A (p.Trp238Ter)
|
|
|
NM_004813.4(PEX16):c.716G>A (p.Gly239Asp)
|
|
|
NM_004813.4(PEX16):c.718C>T (p.Gln240Ter)
|
rs2134692559
|
|
NM_004813.4(PEX16):c.726G>T (p.Ser242=)
|
rs200414298
|
|
NM_004813.4(PEX16):c.729G>A (p.Trp243Ter)
|
|
|
NM_004813.4(PEX16):c.732A>G (p.Lys244=)
|
|
|
NM_004813.4(PEX16):c.735C>G (p.Pro245=)
|
|
|
NM_004813.4(PEX16):c.737G>A (p.Trp246Ter)
|
rs2086807269
|
|
NM_004813.4(PEX16):c.740T>C (p.Leu247Pro)
|
rs2086807248
|
|
NM_004813.4(PEX16):c.742T>C (p.Leu248=)
|
|
|
NM_004813.4(PEX16):c.760G>A (p.Val254Met)
|
rs35214605
|
|
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>A (p.Leu260Met)
|
|
|
NM_004813.4(PEX16):c.778C>T (p.Leu260=)
|
|
|
NM_004813.4(PEX16):c.783T>A (p.Ser261Arg)
|
|
|
NM_004813.4(PEX16):c.784G>A (p.Asp262Asn)
|
rs2134692005
|
|
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.805A>G (p.Arg269Gly)
|
rs1202074085
|
|
NM_004813.4(PEX16):c.805_813dup (p.268RRE[3])
|
rs746516702
|
|
NM_004813.4(PEX16):c.807G>A (p.Arg269=)
|
|
|
NM_004813.4(PEX16):c.810G>A (p.Glu270=)
|
|
|
NM_004813.4(PEX16):c.810G>T (p.Glu270Asp)
|
|
|
NM_004813.4(PEX16):c.815G>A (p.Arg272Gln)
|
rs780754678
|
|
NM_004813.4(PEX16):c.817G>T (p.Glu273Ter)
|
|
|
NM_004813.4(PEX16):c.821T>C (p.Leu274Pro)
|
rs2134691868
|
|
NM_004813.4(PEX16):c.824G>A (p.Arg275Gln)
|
rs1383363053
|
|
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.826C>T (p.Arg276Cys)
|
rs762568886
|
|
NM_004813.4(PEX16):c.827G>A (p.Arg276His)
|
rs1420647698
|
|
NM_004813.4(PEX16):c.828C>T (p.Arg276=)
|
|
|
NM_004813.4(PEX16):c.829C>T (p.Arg277Trp)
|
|
|
NM_004813.4(PEX16):c.834C>T (p.Thr278=)
|
|
|
NM_004813.4(PEX16):c.855G>C (p.Leu285=)
|
|
|
NM_004813.4(PEX16):c.860G>A (p.Arg287His)
|
|
|
NM_004813.4(PEX16):c.865C>G (p.Pro289Ala)
|
|
|
NM_004813.4(PEX16):c.86T>G (p.Val29Gly)
|
rs2134699660
|
|
NM_004813.4(PEX16):c.873_874delinsCT (p.Asp292Tyr)
|
|
|
NM_004813.4(PEX16):c.873_874inv (p.Asp292Asn)
|
|
|
NM_004813.4(PEX16):c.877C>A (p.Arg293Ser)
|
rs544053792
|
|
NM_004813.4(PEX16):c.878G>A (p.Arg293His)
|
|
|
NM_004813.4(PEX16):c.887+10C>T
|
|
|
NM_004813.4(PEX16):c.887+14A>G
|
|
|
NM_004813.4(PEX16):c.887+2T>G
|
rs2134691627
|
|
NM_004813.4(PEX16):c.887+8C>T
|
|
|
NM_004813.4(PEX16):c.887A>G (p.Glu296Gly)
|
rs2134691628
|
|
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.888-1G>C
|
|
|
NM_004813.4(PEX16):c.888-2A>C
|
rs2086772786
|
|
NM_004813.4(PEX16):c.888-3C>A
|
|
|
NM_004813.4(PEX16):c.888-3dup
|
rs2134686844
|
|
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.912G>C (p.Gln304His)
|
|
|
NM_004813.4(PEX16):c.913T>C (p.Leu305=)
|
|
|
NM_004813.4(PEX16):c.918G>A (p.Leu306=)
|
|
|
NM_004813.4(PEX16):c.919G>A (p.Ala307Thr)
|
|
|
NM_004813.4(PEX16):c.921C>G (p.Ala307=)
|
|
|
NM_004813.4(PEX16):c.922G>A (p.Asp308Asn)
|
rs749785179
|
|
NM_004813.4(PEX16):c.922G>C (p.Asp308His)
|
rs749785179
|
|
NM_004813.4(PEX16):c.923A>T (p.Asp308Val)
|
|
|
NM_004813.4(PEX16):c.927C>T (p.His309=)
|
|
|
NM_004813.4(PEX16):c.928G>A (p.Val310Ile)
|
rs771392114
|
|
NM_004813.4(PEX16):c.933T>A (p.Pro311=)
|
|
|
NM_004813.4(PEX16):c.933T>G (p.Pro311=)
|
|
|
NM_004813.4(PEX16):c.935G>T (p.Gly312Val)
|
|
|
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+15G>T
|
rs778357573
|
|
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+20_952+21del
|
rs541010446
|
|
NM_004813.4(PEX16):c.952+3A>C
|
rs2134686616
|
|
NM_004813.4(PEX16):c.952+6C>T
|
|
|
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.953-5T>A
|
|
|
NM_004813.4(PEX16):c.953-8C>T
|
|
|
NM_004813.4(PEX16):c.953-9C>T
|
|
|
NM_004813.4(PEX16):c.960_961del (p.Met321fs)
|
rs2134685523
|
|
NM_004813.4(PEX16):c.961A>G (p.Met321Val)
|
|
|
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_004813.4(PEX16):c.98G>C (p.Ser33Thr)
|
|
|
NM_004813.4(PEX16):c.994_999del (p.Phe332_Tyr333del)
|
|
|
NM_004813.4(PEX16):c.997T>C (p.Tyr333His)
|
|
|
NM_144709.4(PUS10):c.-16+139G>T
|
|
|
NM_144709.4(PUS10):c.-16+141A>C
|
|
|
NM_144709.4(PUS10):c.-16+142G>A
|
|
|
NM_144709.4(PUS10):c.-16+147C>T
|
rs1387361776
|
|
NM_144709.4(PUS10):c.-16+150C>A
|
|
|