ClinVar Miner

List of variants studied for Zellweger spectrum disorders by Invitae

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7812
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HGVS dbSNP gnomAD frequency
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)
NM_000466.3(PEX1):c.3816A>G (p.Thr1272=)
NM_000466.3(PEX1):c.3828T>A (p.Pro1276=)
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)
NM_000466.3(PEX1):c.38G>A (p.Gly13Asp)
NM_000466.3(PEX1):c.391C>T (p.Leu131=) rs2116249061
NM_000466.3(PEX1):c.393A>C (p.Leu131=) rs780791624
NM_000466.3(PEX1):c.396T>C (p.Asp132=) rs1225400009
NM_000466.3(PEX1):c.39C>A (p.Gly13=) rs746171089
NM_000466.3(PEX1):c.39C>T (p.Gly13=)
NM_000466.3(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.3(PEX1):c.400A>G (p.Ile134Val) rs1346290048
NM_000466.3(PEX1):c.401T>C (p.Ile134Thr)
NM_000466.3(PEX1):c.403C>A (p.Arg135=) rs201415996
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000466.3(PEX1):c.423C>A (p.Ala141=) rs2116248825
NM_000466.3(PEX1):c.42G>A (p.Gly14=) rs1793401122
NM_000466.3(PEX1):c.431C>T (p.Pro144Leu) rs1792891356
NM_000466.3(PEX1):c.43del (p.Ala15fs)
NM_000466.3(PEX1):c.445C>A (p.Gln149Lys)
NM_000466.3(PEX1):c.452C>T (p.Thr151Met)
NM_000466.3(PEX1):c.453G>A (p.Thr151=) rs368714078
NM_000466.3(PEX1):c.453G>C (p.Thr151=) rs368714078
NM_000466.3(PEX1):c.455A>G (p.Tyr152Cys) rs1792889273
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.46del (p.Ala16fs)
NM_000466.3(PEX1):c.472+10A>C
NM_000466.3(PEX1):c.472+10A>G rs1792887415
NM_000466.3(PEX1):c.472+16A>G
NM_000466.3(PEX1):c.472+19T>C rs1792886894
NM_000466.3(PEX1):c.472+20T>A
NM_000466.3(PEX1):c.472+4G>A rs2116248481
NM_000466.3(PEX1):c.472+5G>A rs1792887658
NM_000466.3(PEX1):c.472+7G>A rs1017687646
NM_000466.3(PEX1):c.472+8C>T rs2116248438
NM_000466.3(PEX1):c.473-13A>C
NM_000466.3(PEX1):c.473-13dup
NM_000466.3(PEX1):c.473-14del rs1236657615
NM_000466.3(PEX1):c.473-16T>C
NM_000466.3(PEX1):c.473-7T>C rs1792881897
NM_000466.3(PEX1):c.475G>A (p.Ala159Thr) rs372455445
NM_000466.3(PEX1):c.475G>T (p.Ala159Ser) rs372455445
NM_000466.3(PEX1):c.477A>G (p.Ala159=) rs759628709
NM_000466.3(PEX1):c.478C>T (p.Leu160=)
NM_000466.3(PEX1):c.480A>G (p.Leu160=)
NM_000466.3(PEX1):c.487G>C (p.Ala163Pro) rs750376002
NM_000466.3(PEX1):c.489T>G (p.Ala163=) rs1269219461
NM_000466.3(PEX1):c.515A>T (p.Asp172Val)
NM_000466.3(PEX1):c.522A>G (p.Lys174=) rs2116247566
NM_000466.3(PEX1):c.535C>T (p.Pro179Ser) rs760387811
NM_000466.3(PEX1):c.538_541dup (p.Thr181fs) rs1792878019
NM_000466.3(PEX1):c.53C>T (p.Thr18Ile)
NM_000466.3(PEX1):c.540G>A (p.Lys180=) rs1418653170
NM_000466.3(PEX1):c.545G>A (p.Arg182His)
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro) rs199591182
NM_000466.3(PEX1):c.548G>A (p.Arg183Gln)
NM_000466.3(PEX1):c.54T>C (p.Thr18=) rs2116298890
NM_000466.3(PEX1):c.54T>G (p.Thr18=)
NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)
NM_000466.3(PEX1):c.561T>G (p.Asn187Lys) rs944593088
NM_000466.3(PEX1):c.564A>G (p.Thr188=)
NM_000466.3(PEX1):c.564A>T (p.Thr188=) rs2116247151
NM_000466.3(PEX1):c.568del (p.Ser190fs)
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
NM_000466.3(PEX1):c.601A>G (p.Ser201Gly)
NM_000466.3(PEX1):c.607G>T (p.Gly203Ter) rs1472300213
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=)
NM_000466.3(PEX1):c.631A>G (p.Lys211Glu)
NM_000466.3(PEX1):c.642A>C (p.Gln214His) rs760441307
NM_000466.3(PEX1):c.642A>G (p.Gln214=)
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

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