ClinVar Miner

List of variants reported as uncertain significance for Zellweger syndrome

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1167
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HGVS dbSNP
NC_000006.12:g.(?_136821564)_(136914934_?)dup
NC_000006.12:g.(?_42923027)_(42984704_?)dup
NC_000007.14:g.(?_92487437)_(92487561_?)del
NC_000017.10:g.(?_33902781)_(33905060_?)dup
NC_000022.11:g.(?_17877577)_(18088075_?)dup
NC_000022.11:g.18077922T>C
NC_000022.11:g.18077926G>A
NC_000022.11:g.18077965G>T
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)
NM_000286.3(PEX12):c.*109A>G
NM_000286.3(PEX12):c.*335T>C rs886052830
NM_000286.3(PEX12):c.*380G>C rs762716335
NM_000286.3(PEX12):c.*38C>T
NM_000286.3(PEX12):c.*39G>A
NM_000286.3(PEX12):c.*411A>C
NM_000286.3(PEX12):c.*433T>C rs886052829
NM_000286.3(PEX12):c.*474A>G rs886052828
NM_000286.3(PEX12):c.*519A>G rs886052827
NM_000286.3(PEX12):c.*520A>G
NM_000286.3(PEX12):c.*532A>G rs886052826
NM_000286.3(PEX12):c.*569T>A rs541598688
NM_000286.3(PEX12):c.*708G>A
NM_000286.3(PEX12):c.*767_*771CTAAT[1] rs886052825
NM_000286.3(PEX12):c.*778G>A rs886052824
NM_000286.3(PEX12):c.*783A>C
NM_000286.3(PEX12):c.*922T>C rs886052823
NM_000286.3(PEX12):c.*923G>A
NM_000286.3(PEX12):c.-108A>G rs886052831
NM_000286.3(PEX12):c.-138T>C rs543169335
NM_000286.3(PEX12):c.-145C>T rs886052832
NM_000286.3(PEX12):c.-147C>T rs559905700
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.-340G>T rs886052833
NM_000286.3(PEX12):c.-358G>T
NM_000286.3(PEX12):c.-360G>A
NM_000286.3(PEX12):c.-405C>G rs886052834
NM_000286.3(PEX12):c.-427G>A rs531286605
NM_000286.3(PEX12):c.-434A>C rs771210303
NM_000286.3(PEX12):c.-495C>T rs577172680
NM_000286.3(PEX12):c.1002G>A (p.Arg334=) rs200283718
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894
NM_000286.3(PEX12):c.1023del (p.Thr342fs) rs1555549723
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs) rs1555549722
NM_000286.3(PEX12):c.182_184dup (p.Ile62_Phe63insLys) rs1412916235
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del) rs1555549917
NM_000286.3(PEX12):c.200A>G (p.Asp67Gly)
NM_000286.3(PEX12):c.201_203TCT[1] (p.Leu70del) rs61752098
NM_000286.3(PEX12):c.203T>A (p.Leu68His)
NM_000286.3(PEX12):c.20A>G (p.His7Arg)
NM_000286.3(PEX12):c.216A>G (p.Gln72=)
NM_000286.3(PEX12):c.237T>A (p.Ser79Arg)
NM_000286.3(PEX12):c.294C>A (p.His98Gln)
NM_000286.3(PEX12):c.305G>C (p.Arg102Thr)
NM_000286.3(PEX12):c.306A>T (p.Arg102Ser)
NM_000286.3(PEX12):c.335A>G (p.Gln112Arg)
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) rs767207001
NM_000286.3(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000286.3(PEX12):c.362_364TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del) rs1458853023
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp) rs193253559
NM_000286.3(PEX12):c.421G>A (p.Asp141Asn)
NM_000286.3(PEX12):c.430T>C (p.Ser144Pro)
NM_000286.3(PEX12):c.442C>T (p.Pro148Ser)
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505
NM_000286.3(PEX12):c.538C>G (p.Arg180Gly)
NM_000286.3(PEX12):c.539G>A (p.Arg180Gln)
NM_000286.3(PEX12):c.565C>T (p.His189Tyr)
NM_000286.3(PEX12):c.661A>G (p.Met221Val)
NM_000286.3(PEX12):c.680G>A (p.Ser227Asn)
NM_000286.3(PEX12):c.681-2A>C rs187526749
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804
NM_000286.3(PEX12):c.758T>C (p.Val253Ala)
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) rs759584047
NM_000286.3(PEX12):c.793T>C (p.Tyr265His)
NM_000286.3(PEX12):c.84T>C (p.Ser28=) rs200641558
NM_000286.3(PEX12):c.856G>A (p.Val286Ile)
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) rs1366848752
NM_000286.3(PEX12):c.905C>T (p.Thr302Ile)
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) rs61752112
NM_000286.3(PEX12):c.983_984GT[2] (p.Phe330fs) rs764657253
NM_000286.3(PEX12):c.997G>T (p.Val333Leu)
NM_000286.3(PEX12):c.9G>C (p.Glu3Asp)
NM_000287.3(PEX6):c.-39G>A rs76974379
NM_000287.3(PEX6):c.-62C>A rs886061413
NM_000287.3(PEX6):c.-71C>G rs886061414
NM_000287.3(PEX6):c.-79C>T rs186587060
NM_000287.4(PEX6):c.*168C>T rs886061410
NM_000287.4(PEX6):c.*343G>C
NM_000287.4(PEX6):c.*368G>A rs866465109
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.106C>A (p.Leu36Met)
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile)
NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr)
NM_000287.4(PEX6):c.1092A>G (p.Gln364=)
NM_000287.4(PEX6):c.1110A>G (p.Gly370=) rs886061411
NM_000287.4(PEX6):c.1130+2T>C rs1416001981
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552
NM_000287.4(PEX6):c.1152_1154del (p.Val385del)
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr)
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser)
NM_000287.4(PEX6):c.122G>A (p.Arg41Lys)
NM_000287.4(PEX6):c.1232T>C (p.Met411Thr)
NM_000287.4(PEX6):c.1234-10C>T rs370661410
NM_000287.4(PEX6):c.1234-11A>G rs201879957
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu)
NM_000287.4(PEX6):c.127G>T (p.Ala43Ser)
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup) rs1421584986
NM_000287.4(PEX6):c.1365A>G (p.Pro455=) rs759402659
NM_000287.4(PEX6):c.1367+10G>A
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp) rs757334412
NM_000287.4(PEX6):c.1406G>A (p.Arg469Gln)
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala) rs1561823098
NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu)
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser) rs774874010
NM_000287.4(PEX6):c.1440_1442TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.1456C>T (p.His486Tyr)
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln) rs371782808
NM_000287.4(PEX6):c.1558C>T (p.Arg520Cys)
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp) rs368752843
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln) rs138431842
NM_000287.4(PEX6):c.1613G>A (p.Arg538His)
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys)
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.1810A>G (p.Ile604Val)
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln) rs79351868
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser) rs752644254
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del) rs1162020526
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp) rs748535121
NM_000287.4(PEX6):c.2094+4G>C
NM_000287.4(PEX6):c.2104G>A (p.Val702Met) rs377421228
NM_000287.4(PEX6):c.2108C>T (p.Ser703Phe)
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro) rs267608235
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val)
NM_000287.4(PEX6):c.2301-9C>G
NM_000287.4(PEX6):c.231C>A (p.Ser77Arg)
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr) rs61752141
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr)
NM_000287.4(PEX6):c.2471+5G>T
NM_000287.4(PEX6):c.247C>G (p.Leu83Val)
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr)
NM_000287.4(PEX6):c.2547C>T (p.Asn849=)
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup) rs1554128546
NM_000287.4(PEX6):c.2573T>C (p.Leu858Pro)
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855
NM_000287.4(PEX6):c.2601G>T (p.Leu867=)
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246
NM_000287.4(PEX6):c.2642G>A (p.Arg881His)
NM_000287.4(PEX6):c.2697A>G (p.Val899=)
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104
NM_000287.4(PEX6):c.2702T>C (p.Val901Ala)
NM_000287.4(PEX6):c.2729C>T (p.Thr910Met)
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs) rs1554126781
NM_000287.4(PEX6):c.277CGGGCG[1] (p.93RA[1])
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr) rs774145857
NM_000287.4(PEX6):c.2877A>G (p.Gln959=) rs562040179
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu)
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329
NM_000287.4(PEX6):c.302C>G (p.Pro101Arg)
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln) rs376824422
NM_000287.4(PEX6):c.410G>C (p.Arg137Pro)
NM_000287.4(PEX6):c.412G>A (p.Val138Met)
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031
NM_000287.4(PEX6):c.49C>A (p.Pro17Thr)
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148
NM_000287.4(PEX6):c.516CAG[1] (p.Ser174del)
NM_000287.4(PEX6):c.532C>T (p.Pro178Ser)
NM_000287.4(PEX6):c.541_543GTG[1] (p.Val182del) rs1554128449
NM_000287.4(PEX6):c.543G>A (p.Val181=)
NM_000287.4(PEX6):c.548_550CCT[1] (p.Ser184del) rs1554128446
NM_000287.4(PEX6):c.586G>C (p.Gly196Arg)
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.681G>A (p.Gln227=)
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys) rs1260446318
NM_000287.4(PEX6):c.690G>A (p.Glu230=) rs368341252
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg) rs199697021
NM_000287.4(PEX6):c.76G>C (p.Gly26Arg)
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser) rs758866060
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) rs150358700
NM_000287.4(PEX6):c.904G>A (p.Ala302Thr)
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121
NM_000288.4(PEX7):c.*124A>G
NM_000288.4(PEX7):c.*223T>A
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.-18C>T
NM_000288.4(PEX7):c.-28G>A rs376808803
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-69C>A
NM_000288.4(PEX7):c.116A>G (p.His39Arg)
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.188+3A>G rs200234391
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501
NM_000288.4(PEX7):c.244G>A (p.Val82Ile)
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421
NM_000288.4(PEX7):c.748-10T>C rs886061122
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
NM_000288.4(PEX7):c.804-5C>T rs369653173
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.904-4C>G
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210
NM_000318.3(PEX2):c.*1012C>T
NM_000318.3(PEX2):c.*1047T>A rs886063133
NM_000318.3(PEX2):c.*1085T>A rs886063132
NM_000318.3(PEX2):c.*1174A>G
NM_000318.3(PEX2):c.*1319A>T
NM_000318.3(PEX2):c.*1331T>C
NM_000318.3(PEX2):c.*1370A>G rs886063131
NM_000318.3(PEX2):c.*1400A>G
NM_000318.3(PEX2):c.*1466_*1468ATT[1] rs552746754
NM_000318.3(PEX2):c.*1561G>A rs886063130
NM_000318.3(PEX2):c.*1581T>A
NM_000318.3(PEX2):c.*1602A>G rs557330187
NM_000318.3(PEX2):c.*1606T>G
NM_000318.3(PEX2):c.*1716A>G rs192555214
NM_000318.3(PEX2):c.*1749A>T
NM_000318.3(PEX2):c.*1755A>G rs886063129
NM_000318.3(PEX2):c.*1808C>A
NM_000318.3(PEX2):c.*1811C>T rs886063128
NM_000318.3(PEX2):c.*1854A>C rs886063127
NM_000318.3(PEX2):c.*1858G>A
NM_000318.3(PEX2):c.*2007A>T rs558850392
NM_000318.3(PEX2):c.*2057G>A rs568202276
NM_000318.3(PEX2):c.*2294C>G rs763651452
NM_000318.3(PEX2):c.*2404A>G
NM_000318.3(PEX2):c.*2430T>C rs886063126
NM_000318.3(PEX2):c.*2456C>T
NM_000318.3(PEX2):c.*2466A>G rs886063125
NM_000318.3(PEX2):c.*2518C>T rs886063124
NM_000318.3(PEX2):c.*2519G>A
NM_000318.3(PEX2):c.*2700G>T
NM_000318.3(PEX2):c.*277_*279del rs886063138
NM_000318.3(PEX2):c.*2787G>A rs886063123
NM_000318.3(PEX2):c.*2894T>C rs569387185
NM_000318.3(PEX2):c.*2920_*2922del rs746335104
NM_000318.3(PEX2):c.*2973T>C rs751974703
NM_000318.3(PEX2):c.*324G>T rs886063137
NM_000318.3(PEX2):c.*37C>T rs886063140
NM_000318.3(PEX2):c.*394T>C
NM_000318.3(PEX2):c.*40G>A rs148915806
NM_000318.3(PEX2):c.*419T>G
NM_000318.3(PEX2):c.*437T>C
NM_000318.3(PEX2):c.*489C>T rs886063136
NM_000318.3(PEX2):c.*498G>A
NM_000318.3(PEX2):c.*595C>T rs754113775
NM_000318.3(PEX2):c.*596G>A
NM_000318.3(PEX2):c.*627G>T rs145960090
NM_000318.3(PEX2):c.*645G>T
NM_000318.3(PEX2):c.*659C>G
NM_000318.3(PEX2):c.*705T>A
NM_000318.3(PEX2):c.*773T>G
NM_000318.3(PEX2):c.*780T>A
NM_000318.3(PEX2):c.*819A>C rs886063135
NM_000318.3(PEX2):c.*913C>T rs886063134
NM_000318.3(PEX2):c.*91A>G rs886063139
NM_000318.3(PEX2):c.-13del rs146402705
NM_000318.3(PEX2):c.-17-2A>G rs1289852067
NM_000318.3(PEX2):c.-178C>T rs886063141
NM_000318.3(PEX2):c.-183G>T rs568404564
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg)
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) rs138590115
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala)
NM_000318.3(PEX2):c.151C>T (p.Arg51Cys)
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu) rs549242503
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys) rs200065382
NM_000318.3(PEX2):c.322G>C (p.Val108Leu) rs148101729
NM_000318.3(PEX2):c.331A>G (p.Ile111Val)
NM_000318.3(PEX2):c.349_351GAA[1] (p.Glu118del) rs1554584507
NM_000318.3(PEX2):c.374G>A (p.Arg125Gln)
NM_000318.3(PEX2):c.404T>C (p.Val135Ala)
NM_000318.3(PEX2):c.415G>T (p.Val139Leu)
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977
NM_000318.3(PEX2):c.456T>G (p.Ile152Met)
NM_000318.3(PEX2):c.517A>G (p.Ile173Val)
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)
NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr) rs1266603500
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn) rs200868032
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) rs1554584423
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile) rs1264938864
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro)
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg)
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp)
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542
NM_000318.3(PEX2):c.78_80del (p.Asn26del)
NM_000318.3(PEX2):c.826G>C (p.Val276Leu) rs746008519
NM_000318.3(PEX2):c.857_859del (p.Glu286del) rs1460738027
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter) rs1554584377
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) rs1554584372
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.3(PEX1):c.*133G>C rs886062500
NM_000466.3(PEX1):c.*180A>G
NM_000466.3(PEX1):c.*234T>C
NM_000466.3(PEX1):c.*236C>A
NM_000466.3(PEX1):c.*241T>C rs886062499
NM_000466.3(PEX1):c.*292G>A
NM_000466.3(PEX1):c.*428A>G
NM_000466.3(PEX1):c.-19A>G rs368326503
NM_000466.3(PEX1):c.-43T>G rs572810743
NM_000466.3(PEX1):c.-45T>C rs886062509
NM_000466.3(PEX1):c.-74A>G rs886062510
NM_000466.3(PEX1):c.-77C>G
NM_000466.3(PEX1):c.-82C>G
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) rs371309198
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly)
NM_000466.3(PEX1):c.122_124TGC[3] (p.Leu42dup) rs1554378340
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1360-4G>T rs199716270
NM_000466.3(PEX1):c.1360-7C>T rs371890000
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp)
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667
NM_000466.3(PEX1):c.1524_1529AAAAGA[1] (p.508_509EK[1]) rs1554373613
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.3(PEX1):c.1587+5T>C rs199526105
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys)
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu)
NM_000466.3(PEX1):c.1645C>T (p.Pro549Ser) rs1053943553
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1671-13A>G
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1750A>G (p.Met584Val)
NM_000466.3(PEX1):c.1754C>A (p.Ser585Tyr)
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys)
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407
NM_000466.3(PEX1):c.1804-12A>G
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs) rs1562857333
NM_000466.3(PEX1):c.1901-14T>C
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala) rs775544654
NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala)
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del) rs1554372090
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg)
NM_000466.3(PEX1):c.2071+3A>G
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val) rs150351763
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg) rs1356967048
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3]) rs1554371691
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
NM_000466.3(PEX1):c.2240A>C (p.Glu747Ala)
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del) rs1554371157
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro)
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr)
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup) rs1554371019
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys)
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) rs1385204416
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe)
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-9del rs886062504
NM_000466.3(PEX1):c.2633_2635TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn)
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe)
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp)
NM_000466.3(PEX1):c.2783+6T>C rs1585224298
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021
NM_000466.3(PEX1):c.2817_2819TGA[1] (p.Asp940del) rs1554368794
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val)
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) rs773206107
NM_000466.3(PEX1):c.2912T>C (p.Val971Ala)
NM_000466.3(PEX1):c.2926+4A>G
NM_000466.3(PEX1):c.2926+8T>C rs369877998
NM_000466.3(PEX1):c.2927-12T>A rs375062546
NM_000466.3(PEX1):c.2927-8T>C
NM_000466.3(PEX1):c.2942C>T (p.Ala981Val)
NM_000466.3(PEX1):c.2954G>A (p.Arg985His)
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln)
NM_000466.3(PEX1):c.2995C>A (p.Leu999Ile)
NM_000466.3(PEX1):c.3030+12A>G
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696
NM_000466.3(PEX1):c.3062G>A (p.Ser1021Asn) rs1330798276
NM_000466.3(PEX1):c.3068C>G (p.Ser1023Cys)
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=)
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del) rs1554368148
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg) rs371136331
NM_000466.3(PEX1):c.3161C>T (p.Ala1054Val) rs886062503
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=) rs776231556
NM_000466.3(PEX1):c.3172G>A (p.Ala1058Thr)
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg)
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)
NM_000466.3(PEX1):c.3196A>C (p.Ser1066Arg)
NM_000466.3(PEX1):c.3208-3T>C
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg)
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000466.3(PEX1):c.3438G>A (p.Leu1146=) rs1585214175
NM_000466.3(PEX1):c.3503A>C (p.Asp1168Ala)
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=)
NM_000466.3(PEX1):c.3546A>G (p.Gln1182=) rs886062502
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile) rs749324355
NM_000466.3(PEX1):c.3598A>T (p.Ile1200Phe) rs886043722
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln)
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=) rs886062501
NM_000466.3(PEX1):c.3637-14T>C
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=)
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg)
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup) rs1554378403
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs) rs1554366550
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys) rs553001596
NM_000466.3(PEX1):c.3767+1_3767+2dup rs1383361108
NM_000466.3(PEX1):c.3768-1G>A rs770868309
NM_000466.3(PEX1):c.3768-2A>T rs1554365998
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs) rs758748151
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter) rs755549316
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys) rs750722718
NM_000466.3(PEX1):c.457A>G (p.Ile153Val)
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.472+5G>A
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro)
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro)
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874
NM_000466.3(PEX1):c.642A>C (p.Gln214His)
NM_000466.3(PEX1):c.647A>G (p.Lys216Arg)
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)
NM_000466.3(PEX1):c.724G>A (p.Val242Ile)
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn)
NM_000466.3(PEX1):c.96G>A (p.Pro32=) rs1445565547
NM_001079867.1(PEX2):c.-241G>A rs367767138
NM_001079867.1(PEX2):c.-246C>G rs886063142
NM_001079867.1(PEX2):c.-303C>T rs886063143
NM_001079867.1(PEX2):c.-335A>G rs886063144
NM_001079867.1(PEX2):c.-337C>T rs886063145
NM_001127649.3(PEX26):c.*112C>T rs761715161
NM_001127649.3(PEX26):c.*1136G>A rs886057251
NM_001127649.3(PEX26):c.*113G>A rs199653646
NM_001127649.3(PEX26):c.*1152G>C rs886057252
NM_001127649.3(PEX26):c.*1156T>C
NM_001127649.3(PEX26):c.*1171G>A rs184116244
NM_001127649.3(PEX26):c.*1194G>A rs118188952
NM_001127649.3(PEX26):c.*122A>C
NM_001127649.3(PEX26):c.*133C>T rs200243782
NM_001127649.3(PEX26):c.*1488T>C
NM_001127649.3(PEX26):c.*1493C>G
NM_001127649.3(PEX26):c.*1509C>G
NM_001127649.3(PEX26):c.*1618G>C
NM_001127649.3(PEX26):c.*1623_*1626GTTT[7] rs375436648
NM_001127649.3(PEX26):c.*1627G>T
NM_001127649.3(PEX26):c.*1631G>T rs886057254
NM_001127649.3(PEX26):c.*1639G>T
NM_001127649.3(PEX26):c.*1684T>C rs886057255
NM_001127649.3(PEX26):c.*1720G>A rs749348676
NM_001127649.3(PEX26):c.*1922C>T
NM_001127649.3(PEX26):c.*1928A>C
NM_001127649.3(PEX26):c.*1957G>T
NM_001127649.3(PEX26):c.*2070del rs886057256
NM_001127649.3(PEX26):c.*2155A>G rs773334209
NM_001127649.3(PEX26):c.*2195A>G
NM_001127649.3(PEX26):c.*2282G>A
NM_001127649.3(PEX26):c.*2285C>T rs886057257
NM_001127649.3(PEX26):c.*2308A>T
NM_001127649.3(PEX26):c.*2339G>A
NM_001127649.3(PEX26):c.*2369C>G
NM_001127649.3(PEX26):c.*2370T>A
NM_001127649.3(PEX26):c.*2386C>G rs148534099
NM_001127649.3(PEX26):c.*2449C>T rs140919342
NM_001127649.3(PEX26):c.*2452G>C rs886057258
NM_001127649.3(PEX26):c.*2479G>A rs537299090
NM_001127649.3(PEX26):c.*2523C>T
NM_001127649.3(PEX26):c.*2604G>C
NM_001127649.3(PEX26):c.*2647G>A rs886057259
NM_001127649.3(PEX26):c.*2651C>T
NM_001127649.3(PEX26):c.*2724G>C rs58564536
NM_001127649.3(PEX26):c.*2768C>T rs886057260
NM_001127649.3(PEX26):c.*2799dup rs751296123
NM_001127649.3(PEX26):c.*2807_*2808del rs754613851
NM_001127649.3(PEX26):c.*280G>A rs188897908
NM_001127649.3(PEX26):c.*2810G>C
NM_001127649.3(PEX26):c.*2904T>C
NM_001127649.3(PEX26):c.*36G>A
NM_001127649.3(PEX26):c.*439C>G
NM_001127649.3(PEX26):c.*533A>C rs886057247
NM_001127649.3(PEX26):c.*568G>A rs886057248
NM_001127649.3(PEX26):c.*578A>G
NM_001127649.3(PEX26):c.*609_*610GA[3] rs886057249
NM_001127649.3(PEX26):c.*662C>T
NM_001127649.3(PEX26):c.*802A>G
NM_001127649.3(PEX26):c.*812C>T rs886057250
NM_001127649.3(PEX26):c.*828C>T rs551641353
NM_001127649.3(PEX26):c.*829A>T
NM_001127649.3(PEX26):c.*912C>T rs79240512
NM_001127649.3(PEX26):c.*954T>C rs188986907
NM_001127649.3(PEX26):c.*977C>T rs181706274
NM_001127649.3(PEX26):c.-375G>A rs752393777
NM_001127649.3(PEX26):c.-381C>T rs561094254
NM_001127649.3(PEX26):c.-80C>T
NM_001127649.3(PEX26):c.129_131CCT[1] (p.Leu45del)
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu) rs777633990
NM_001127649.3(PEX26):c.169A>G (p.Thr57Ala)
NM_001127649.3(PEX26):c.198C>T (p.Ala66=) rs374290931
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779
NM_001127649.3(PEX26):c.207C>T (p.Ala69=) rs375516973
NM_001127649.3(PEX26):c.208G>T (p.Val70Leu) rs766581207
NM_001127649.3(PEX26):c.230+3A>G rs757200331
NM_001127649.3(PEX26):c.230+8C>T rs886057245
NM_001127649.3(PEX26):c.239A>T (p.Glu80Val)
NM_001127649.3(PEX26):c.23C>T (p.Ser8Phe)
NM_001127649.3(PEX26):c.29C>T (p.Ala10Val) rs768425084
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) rs45567240
NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu) rs200279475
NM_001127649.3(PEX26):c.334G>C (p.Val112Leu)
NM_001127649.3(PEX26):c.352C>T (p.Pro118Ser)
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) rs61752135
NM_001127649.3(PEX26):c.371+6T>C
NM_001127649.3(PEX26):c.381A>T (p.Leu127Phe)
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu) rs142648687
NM_001127649.3(PEX26):c.427G>A (p.Ala143Thr)
NM_001127649.3(PEX26):c.496C>T (p.Arg166Trp) rs369695924
NM_001127649.3(PEX26):c.506T>C (p.Leu169Pro)
NM_001127649.3(PEX26):c.548G>A (p.Gly183Asp)
NM_001127649.3(PEX26):c.554C>T (p.Ala185Val) rs370147115
NM_001127649.3(PEX26):c.569A>G (p.Glu190Gly)
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) rs150451390
NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln)
NM_001127649.3(PEX26):c.625G>T (p.Glu209Ter) rs886057246
NM_001127649.3(PEX26):c.635G>T (p.Gly212Val)
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) rs138232280
NM_001127649.3(PEX26):c.667+8A>G rs200880379
NM_001127649.3(PEX26):c.698C>T (p.Pro233Leu)
NM_001127649.3(PEX26):c.709C>T (p.Arg237Cys)
NM_001127649.3(PEX26):c.710G>A (p.Arg237His) rs370821533
NM_001127649.3(PEX26):c.716T>C (p.Leu239Pro) rs757411841
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003
NM_001127649.3(PEX26):c.77G>C (p.Arg26Pro)
NM_001127649.3(PEX26):c.814+15C>T
NM_001127649.3(PEX26):c.851C>T (p.Ala284Val)
NM_001127649.3(PEX26):c.862C>T (p.Arg288Cys)
NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys) rs780701336
NM_001127649.3(PEX26):c.895dup (p.Tyr299fs) rs759821636
NM_001127649.3(PEX26):c.910C>T (p.Arg304Cys)
NM_001127649.3(PEX26):c.911G>A (p.Arg304His) rs17851387
NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu) rs368118099
NM_001131023.1(PEX5):c.-17+22_-17+40delinsCC rs775869915
NM_001131023.1(PEX5):c.649G>C (p.Val217Leu) rs149102738
NM_001131025.1(PEX5):c.*1080T>C rs755972180
NM_001131025.1(PEX5):c.*1089T>C rs886049834
NM_001131025.1(PEX5):c.*1134T>A rs769928491
NM_001131025.1(PEX5):c.*1134T>C rs769928491
NM_001131025.1(PEX5):c.*1139T>C rs886049836
NM_001131025.1(PEX5):c.*1251G>A rs538222740
NM_001131025.1(PEX5):c.*1259G>C rs148385560
NM_001131025.1(PEX5):c.*132C>G rs753013794
NM_001131025.1(PEX5):c.*179A>G rs192786621
NM_001131025.1(PEX5):c.*1C>T rs886049827
NM_001131025.1(PEX5):c.*322C>T rs764082627
NM_001131025.1(PEX5):c.*403C>T rs886049828
NM_001131025.1(PEX5):c.*452G>C rs185474091
NM_001131025.1(PEX5):c.*495G>A rs776371289
NM_001131025.1(PEX5):c.*627C>T rs146897980
NM_001131025.1(PEX5):c.*677G>T rs886049830
NM_001131025.1(PEX5):c.*722G>A rs886049831
NM_001131025.1(PEX5):c.*81A>C rs183460108
NM_001131025.1(PEX5):c.*891A>G rs371691416
NM_001131025.1(PEX5):c.-145G>A rs542096066
NM_001131025.1(PEX5):c.-243G>A rs754651589
NM_001131025.1(PEX5):c.-298T>C rs779168691
NM_001131025.1(PEX5):c.-443T>C rs796452917
NM_001131025.1(PEX5):c.-462_-461insCCG rs886049824
NM_001131025.1(PEX5):c.-515G>T rs886049823
NM_001131025.1(PEX5):c.-519T>C rs770339670
NM_001131025.1(PEX5):c.-521C>G rs886049822
NM_001131025.1(PEX5):c.-535C>T rs886049821
NM_001131025.1(PEX5):c.1413G>C (p.Val471=) rs115760878
NM_001131025.1(PEX5):c.1521C>T (p.Ala507=) rs150761638
NM_001131025.1(PEX5):c.1522G>A (p.Val508Met) rs138028549
NM_001131025.1(PEX5):c.1559A>G (p.Asn520Ser) rs139364109
NM_001131025.1(PEX5):c.1587C>T (p.Gly529=) rs144401814
NM_001131025.1(PEX5):c.1636C>T (p.Arg546Cys) rs759334733
NM_001131025.1(PEX5):c.1647C>G (p.Leu549=) rs753512677
NM_001131025.1(PEX5):c.1653C>G (p.Leu551=) rs200215904
NM_001131025.1(PEX5):c.1707C>T (p.Leu569=) rs151312595
NM_001131025.1(PEX5):c.1737T>C (p.Phe579=) rs753159772
NM_001131025.1(PEX5):c.1814G>A (p.Ser605Asn) rs146567534
NM_001131025.1(PEX5):c.1850G>C (p.Ser617Thr) rs751637149
NM_001131025.1(PEX5):c.1873G>A (p.Ala625Thr) rs143600154
NM_001131025.1(PEX5):c.1875G>A (p.Ala625=) rs371233272
NM_001131025.1(PEX5):c.1902G>A (p.Met634Ile) rs145886418
NM_001131025.1(PEX5):c.371C>G (p.Ala124Gly) rs143307183
NM_001131025.1(PEX5):c.421T>G (p.Ser141Ala) rs200475014
NM_001131025.1(PEX5):c.496C>G (p.Gln166Glu) rs751043763
NM_001131025.1(PEX5):c.498A>G (p.Gln166=) rs756714515
NM_001131025.1(PEX5):c.551+15C>T rs886049825
NM_001131025.1(PEX5):c.552-7G>A rs189631769
NM_001131025.1(PEX5):c.590C>T (p.Thr197Met) rs144897942
NM_001131025.1(PEX5):c.643-5C>T rs886049826
NM_001131025.1(PEX5):c.754-4G>A rs111286659
NM_001131025.1(PEX5):c.909T>C (p.Ala303=) rs376649488
NM_001131025.1(PEX5):c.966+3G>A rs373763823
NM_001131025.1(PEX5):c.967-15G>A rs201341037
NM_001131025.2(PEX5):c.230G>A rs780957318
NM_001131025.2(PEX5):c.533G>A rs749729761
NM_001131026.2(PEX5):c.19+427_19+433dup rs771366153
NM_001131026.2(PEX5):c.19+972_19+973dup rs886049833
NM_001193644.1(PEX19):c.*2425_*2426CT[2] rs143491060
NM_001193644.1(PEX19):c.-17A>C
NM_001199319.1(PEX26):c.-167C>T rs886057244
NM_001351132.2(PEX5):c.*110G>A
NM_001351132.2(PEX5):c.*137C>T
NM_001351132.2(PEX5):c.*171A>G
NM_001351132.2(PEX5):c.*249C>G
NM_001351132.2(PEX5):c.*296C>T
NM_001351132.2(PEX5):c.*506T>C
NM_001351132.2(PEX5):c.*61C>A
NM_001351132.2(PEX5):c.*766C>T
NM_001351132.2(PEX5):c.*932A>T
NM_001351132.2(PEX5):c.-16-149A>G
NM_001351132.2(PEX5):c.-17+102G>C
NM_001351132.2(PEX5):c.-17+249C>T
NM_001351132.2(PEX5):c.-17+65C>G
NM_001351132.2(PEX5):c.-17+71G>A
NM_001351132.2(PEX5):c.-49G>A
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys)
NM_001351132.2(PEX5):c.1111-12A>G
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=)
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu)
NM_001351132.2(PEX5):c.1395-14T>C
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=)
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser)
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=) rs370306007
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp)
NM_001351132.2(PEX5):c.317-6T>C
NM_001351132.2(PEX5):c.48G>C (p.Pro16=)
NM_001351132.2(PEX5):c.708C>T (p.Gly236=)
NM_001351132.2(PEX5):c.730G>T (p.Ala244Ser)
NM_001351132.2(PEX5):c.88C>T (p.Leu30Phe)
NM_001374426.1(PEX10):c.-321+1018G>T
NM_002617.3(PEX10):c.-52_-51del rs570192538
NM_002617.3(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.3(PEX10):c.855_857dup (p.Thr286dup) rs1553231765
NM_002617.3(PEX10):c.876_878CTG[1] (p.Cys293del) rs1438047457
NM_002617.3(PEX10):c.952_954del (p.Lys318del) rs1553231582
NM_002617.4(PEX10):c.*175T>C
NM_002617.4(PEX10):c.*401A>C
NM_002617.4(PEX10):c.*445G>A
NM_002617.4(PEX10):c.*643C>T
NM_002617.4(PEX10):c.*686C>G
NM_002617.4(PEX10):c.*824G>A
NM_002617.4(PEX10):c.*905A>C
NM_002617.4(PEX10):c.*951G>C
NM_002617.4(PEX10):c.-18C>T
NM_002617.4(PEX10):c.-9C>T
NM_002617.4(PEX10):c.111G>T (p.Ala37=)
NM_002617.4(PEX10):c.112+11G>T
NM_002617.4(PEX10):c.248G>A (p.Arg83Gln)
NM_002617.4(PEX10):c.274C>G (p.Arg92Gly)
NM_002617.4(PEX10):c.31G>A (p.Val11Met)
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro)
NM_002617.4(PEX10):c.341A>G (p.Glu114Gly)
NM_002617.4(PEX10):c.390C>G (p.Ser130Arg)
NM_002617.4(PEX10):c.436C>T (p.Arg146Cys)
NM_002617.4(PEX10):c.443A>G (p.His148Arg)
NM_002617.4(PEX10):c.447G>A (p.Thr149=)
NM_002617.4(PEX10):c.470G>A (p.Arg157Lys)
NM_002617.4(PEX10):c.488C>T (p.Ala163Val)
NM_002617.4(PEX10):c.521T>A (p.Leu174His)
NM_002617.4(PEX10):c.530T>G (p.Leu177Arg)
NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp)
NM_002617.4(PEX10):c.601-18G>C
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser)
NM_002617.4(PEX10):c.677T>C (p.Leu226Pro)
NM_002617.4(PEX10):c.712G>A (p.Gly238Ser)
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln)
NM_002617.4(PEX10):c.768T>A (p.Ser256=)
NM_002617.4(PEX10):c.772C>G (p.Arg258Gly)
NM_002617.4(PEX10):c.776+5G>A
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp)
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys)
NM_002617.4(PEX10):c.795A>C (p.Arg265Ser)
NM_002617.4(PEX10):c.821C>T (p.Thr274Ile)
NM_002617.4(PEX10):c.857C>T (p.Thr286Met)
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser)
NM_002617.4(PEX10):c.899G>T (p.Trp300Leu)
NM_002617.4(PEX10):c.931C>T (p.Arg311Trp)
NM_002618.4(PEX13):c.*1005C>A
NM_002618.4(PEX13):c.*1174A>T
NM_002618.4(PEX13):c.*1283C>G rs886056201
NM_002618.4(PEX13):c.*1376C>T
NM_002618.4(PEX13):c.*1377G>A rs536283006
NM_002618.4(PEX13):c.*1416G>T
NM_002618.4(PEX13):c.*1480C>G
NM_002618.4(PEX13):c.*1533G>C rs886056202
NM_002618.4(PEX13):c.*1564C>G rs886056203
NM_002618.4(PEX13):c.*1566A>T rs886056204
NM_002618.4(PEX13):c.*1649C>T
NM_002618.4(PEX13):c.*1654T>G
NM_002618.4(PEX13):c.*170C>G
NM_002618.4(PEX13):c.*1875_*1876del rs886056205
NM_002618.4(PEX13):c.*1925C>T
NM_002618.4(PEX13):c.*1961T>C rs771587917
NM_002618.4(PEX13):c.*1998T>C rs559684247
NM_002618.4(PEX13):c.*2111A>C
NM_002618.4(PEX13):c.*2159T>C rs886056206
NM_002618.4(PEX13):c.*2168A>T rs886056207
NM_002618.4(PEX13):c.*216T>C rs146980377
NM_002618.4(PEX13):c.*2229C>T
NM_002618.4(PEX13):c.*2234A>G
NM_002618.4(PEX13):c.*2236A>C
NM_002618.4(PEX13):c.*2296G>A rs886056208
NM_002618.4(PEX13):c.*233G>T rs886056198
NM_002618.4(PEX13):c.*2356T>C rs139999174
NM_002618.4(PEX13):c.*2368T>C
NM_002618.4(PEX13):c.*2422T>G
NM_002618.4(PEX13):c.*2495A>T
NM_002618.4(PEX13):c.*2537T>C
NM_002618.4(PEX13):c.*2550G>A
NM_002618.4(PEX13):c.*2581A>T
NM_002618.4(PEX13):c.*263A>T rs558525565
NM_002618.4(PEX13):c.*2642T>C rs886056209
NM_002618.4(PEX13):c.*2749C>G
NM_002618.4(PEX13):c.*2918A>G
NM_002618.4(PEX13):c.*2989_*2990del rs886056210
NM_002618.4(PEX13):c.*298G>C rs886056199
NM_002618.4(PEX13):c.*3038A>T rs886056211
NM_002618.4(PEX13):c.*3044del rs886056212
NM_002618.4(PEX13):c.*3050C>T
NM_002618.4(PEX13):c.*3106T>C
NM_002618.4(PEX13):c.*3126A>G
NM_002618.4(PEX13):c.*318G>C
NM_002618.4(PEX13):c.*3216C>G
NM_002618.4(PEX13):c.*357T>C
NM_002618.4(PEX13):c.*383A>T rs149099359
NM_002618.4(PEX13):c.*436T>C
NM_002618.4(PEX13):c.*442dup rs201619544
NM_002618.4(PEX13):c.*446A>G
NM_002618.4(PEX13):c.*676A>G rs886056200
NM_002618.4(PEX13):c.*803A>G rs561112537
NM_002618.4(PEX13):c.*813G>C rs781689721
NM_002618.4(PEX13):c.*851A>G
NM_002618.4(PEX13):c.*895C>T
NM_002618.4(PEX13):c.*90A>G rs535967834
NM_002618.4(PEX13):c.*953G>A
NM_002618.4(PEX13):c.*956G>T rs141215166
NM_002618.4(PEX13):c.*962G>A
NM_002618.4(PEX13):c.-12G>A rs886056195
NM_002618.4(PEX13):c.-7G>A rs200847026
NM_002618.4(PEX13):c.1003G>A (p.Gly335Ser)
NM_002618.4(PEX13):c.1042G>C (p.Val348Leu)
NM_002618.4(PEX13):c.1058A>G (p.Gln353Arg)
NM_002618.4(PEX13):c.1070A>G (p.Asn357Ser)
NM_002618.4(PEX13):c.1090G>A (p.Ala364Thr)
NM_002618.4(PEX13):c.1093A>G (p.Thr365Ala)
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe) rs758388660
NM_002618.4(PEX13):c.1151C>G (p.Thr384Ser)
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) rs371789976
NM_002618.4(PEX13):c.1163C>T (p.Pro388Leu) rs1203618499
NM_002618.4(PEX13):c.1180A>T (p.Ile394Phe) rs376560254
NM_002618.4(PEX13):c.1193G>A (p.Gly398Glu)
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) rs60203778
NM_002618.4(PEX13):c.14C>T (p.Pro5Leu)
NM_002618.4(PEX13):c.193A>G (p.Ser65Gly) rs886056196
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg) rs752073595
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser) rs367843599
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys) rs200928725
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.278A>G (p.Tyr93Cys)
NM_002618.4(PEX13):c.32C>A (p.Pro11His) rs564528921
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) rs564528921
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro) rs202077756
NM_002618.4(PEX13):c.353T>A (p.Phe118Tyr) rs749542687
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_002618.4(PEX13):c.417A>G (p.Ala139=) rs886056197
NM_002618.4(PEX13):c.43C>T (p.Arg15Cys)
NM_002618.4(PEX13):c.464A>G (p.Tyr155Cys) rs1298522041
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro) rs1559035602
NM_002618.4(PEX13):c.508C>A (p.Arg170=)
NM_002618.4(PEX13):c.529_531del (p.Lys177del)
NM_002618.4(PEX13):c.580C>T (p.Arg194Trp)
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln)
NM_002618.4(PEX13):c.605G>A (p.Arg202Lys)
NM_002618.4(PEX13):c.661C>G (p.Leu221Val)
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln) rs775953595
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr) rs145568490
NM_002618.4(PEX13):c.845A>G (p.Asp282Gly)
NM_002618.4(PEX13):c.847T>G (p.Phe283Val)
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810
NM_002618.4(PEX13):c.881G>A (p.Arg294Gln)
NM_002618.4(PEX13):c.893T>C (p.Met298Thr) rs138545154
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002618.4(PEX13):c.931C>T (p.Arg311Cys)
NM_002618.4(PEX13):c.932G>A (p.Arg311His)
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter)
NM_002618.4(PEX13):c.968C>T (p.Thr323Ile)
NM_002618.4(PEX13):c.978A>G (p.Ile326Met)
NM_002618.4(PEX13):c.980C>T (p.Pro327Leu)
NM_002618.4(PEX13):c.98C>A (p.Ala33Asp)
NM_002857.3(PEX19):c.*1103C>T rs561417695
NM_002857.3(PEX19):c.*1163T>C rs575199724
NM_002857.3(PEX19):c.*1330G>A rs886045442
NM_002857.3(PEX19):c.*1335G>T rs748536788
NM_002857.3(PEX19):c.*1450T>A rs886045441
NM_002857.3(PEX19):c.*1592G>A rs779471097
NM_002857.3(PEX19):c.*172G>C rs886045449
NM_002857.3(PEX19):c.*1745T>C rs186821837
NM_002857.3(PEX19):c.*1761C>A rs761868324
NM_002857.3(PEX19):c.*1790A>G rs886045440
NM_002857.3(PEX19):c.*1852C>G rs370387085
NM_002857.3(PEX19):c.*1980T>C rs372976790
NM_002857.3(PEX19):c.*2068T>C rs536872409
NM_002857.3(PEX19):c.*2155C>T rs886045439
NM_002857.3(PEX19):c.*2536A>G rs141829599
NM_002857.3(PEX19):c.*2555T>G rs148123121
NM_002857.3(PEX19):c.*2717A>G rs574056299
NM_002857.3(PEX19):c.*361G>A rs886045448
NM_002857.3(PEX19):c.*427A>G rs886045447
NM_002857.3(PEX19):c.*469C>T rs886045446
NM_002857.3(PEX19):c.*662C>T rs773981843
NM_002857.3(PEX19):c.*77del rs771535781
NM_002857.3(PEX19):c.*854G>A rs747191827
NM_002857.3(PEX19):c.*896A>G rs886045445
NM_002857.3(PEX19):c.*934A>G rs886045444
NM_002857.3(PEX19):c.*998G>A rs886045443
NM_002857.3(PEX19):c.-4C>T rs201541204
NM_002857.3(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.3(PEX19):c.149C>T (p.Pro50Leu) rs11550117
NM_002857.3(PEX19):c.16G>A (p.Glu6Lys) rs145845197
NM_002857.3(PEX19):c.181-4G>T rs747572423
NM_002857.3(PEX19):c.181-5C>T rs199818690
NM_002857.3(PEX19):c.215A>G (p.Gln72Arg) rs543271441
NM_002857.3(PEX19):c.254C>T (p.Ala85Val) rs11550119
NM_002857.3(PEX19):c.261C>T (p.Phe87=) rs146644725
NM_002857.3(PEX19):c.347-7C>T rs753523567
NM_002857.3(PEX19):c.362C>T (p.Ser121Phe) rs1557854775
NM_002857.3(PEX19):c.402T>C (p.Ser134=) rs139828188
NM_002857.3(PEX19):c.432+2T>C rs757078881
NM_002857.3(PEX19):c.459G>A (p.Leu153=) rs78340311
NM_002857.3(PEX19):c.498T>G (p.Asp166Glu) rs142780305
NM_002857.3(PEX19):c.630A>C (p.Leu210=) rs202174805
NM_002857.3(PEX19):c.857C>G (p.Ser286Trp) rs149976198
NM_002857.3(PEX19):c.878G>C (p.Gly293Ala) rs139875266
NM_002857.4(PEX19):c.*1013G>A
NM_002857.4(PEX19):c.*1069G>A
NM_002857.4(PEX19):c.*1145C>T
NM_002857.4(PEX19):c.*138C>T
NM_002857.4(PEX19):c.*1462C>G
NM_002857.4(PEX19):c.*2224G>T
NM_002857.4(PEX19):c.*2383C>G
NM_002857.4(PEX19):c.*2413C>T
NM_002857.4(PEX19):c.*582G>A
NM_002857.4(PEX19):c.*716C>A
NM_002857.4(PEX19):c.*741C>T
NM_002857.4(PEX19):c.*864C>T
NM_002857.4(PEX19):c.*971G>A
NM_002857.4(PEX19):c.149C>A (p.Pro50His)
NM_002857.4(PEX19):c.272T>C (p.Met91Thr)
NM_002857.4(PEX19):c.366A>G (p.Gln122=)
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro)
NM_002857.4(PEX19):c.41C>T (p.Ala14Val)
NM_002857.4(PEX19):c.424G>C (p.Asp142His)
NM_002857.4(PEX19):c.536T>G (p.Met179Arg)
NM_002857.4(PEX19):c.594G>C (p.Lys198Asn)
NM_002857.4(PEX19):c.667A>G (p.Ser223Gly)
NM_003630.2(PEX3):c.-247T>C rs138955442
NM_003630.3(PEX3):c.*1074A>G rs553070296
NM_003630.3(PEX3):c.*1226A>T
NM_003630.3(PEX3):c.*129C>T rs41285017
NM_003630.3(PEX3):c.*1305C>T rs886061137
NM_003630.3(PEX3):c.*1332A>G rs886061138
NM_003630.3(PEX3):c.*220G>A rs117247312
NM_003630.3(PEX3):c.*287A>G
NM_003630.3(PEX3):c.*307_*308TA[7] rs1326299129
NM_003630.3(PEX3):c.*321A>T
NM_003630.3(PEX3):c.*321_*322del rs771525459
NM_003630.3(PEX3):c.*377C>T
NM_003630.3(PEX3):c.*424T>C rs189379544
NM_003630.3(PEX3):c.*573A>G rs886061135
NM_003630.3(PEX3):c.*677C>T rs886061136
NM_003630.3(PEX3):c.*708A>G
NM_003630.3(PEX3):c.*742A>G
NM_003630.3(PEX3):c.*793T>C rs535466526
NM_003630.3(PEX3):c.*822A>G
NM_003630.3(PEX3):c.*958T>C rs41285019
NM_003630.3(PEX3):c.*978C>T
NM_003630.3(PEX3):c.*985T>G
NM_003630.3(PEX3):c.-150_-149CT[3] rs886061131
NM_003630.3(PEX3):c.-175G>C rs545482337
NM_003630.3(PEX3):c.-175dup rs886061130
NM_003630.3(PEX3):c.-186C>T
NM_003630.3(PEX3):c.-214G>C rs886061129
NM_003630.3(PEX3):c.-231G>C
NM_003630.3(PEX3):c.-96G>T
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015
NM_003630.3(PEX3):c.249A>G (p.Gln83=) rs139760270
NM_003630.3(PEX3):c.332-9T>A
NM_003630.3(PEX3):c.332G>T (p.Ser111Ile)
NM_003630.3(PEX3):c.472C>G (p.Pro158Ala)
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg) rs199781957
NM_003630.3(PEX3):c.51C>T (p.Ile17=) rs367803197
NM_003630.3(PEX3):c.578+8A>G rs200807211
NM_003630.3(PEX3):c.810G>A (p.Met270Ile)
NM_003630.3(PEX3):c.887C>T (p.Ala296Val) rs886061132
NM_003630.3(PEX3):c.899G>A (p.Arg300Gln) rs200463608
NM_003630.3(PEX3):c.96T>C (p.Tyr32=) rs201718910
NM_004565.3(PEX14):c.*174C>T rs886045018
NM_004565.3(PEX14):c.*256A>G
NM_004565.3(PEX14):c.*369A>G
NM_004565.3(PEX14):c.*400G>T rs886045019
NM_004565.3(PEX14):c.*459T>C
NM_004565.3(PEX14):c.*515C>T rs886045020
NM_004565.3(PEX14):c.*564C>T rs561807671
NM_004565.3(PEX14):c.*570C>T
NM_004565.3(PEX14):c.*576A>G rs530124005
NM_004565.3(PEX14):c.*616C>T
NM_004565.3(PEX14):c.*685A>T
NM_004565.3(PEX14):c.*755del rs548721184
NM_004565.3(PEX14):c.*7G>T rs367982022
NM_004565.3(PEX14):c.1010T>C (p.Val337Ala)
NM_004565.3(PEX14):c.1015G>A (p.Glu339Lys) rs1570377732
NM_004565.3(PEX14):c.1048C>T (p.Arg350Cys)
NM_004565.3(PEX14):c.1128G>C (p.Arg376=)
NM_004565.3(PEX14):c.118C>T (p.Arg40Trp)
NM_004565.3(PEX14):c.170-13C>T
NM_004565.3(PEX14):c.199T>C (p.Phe67Leu)
NM_004565.3(PEX14):c.233C>T (p.Ser78Leu)
NM_004565.3(PEX14):c.247G>A (p.Ala83Thr) rs1557866347
NM_004565.3(PEX14):c.269A>G (p.Gln90Arg)
NM_004565.3(PEX14):c.26A>T (p.Gln9Leu)
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala) rs199525137
NM_004565.3(PEX14):c.297C>T (p.Tyr99=) rs371473184
NM_004565.3(PEX14):c.331G>A (p.Ala111Thr)
NM_004565.3(PEX14):c.36+8G>A rs200154696
NM_004565.3(PEX14):c.360A>G (p.Ala120=) rs148479162
NM_004565.3(PEX14):c.381C>T (p.Tyr127=) rs372630614
NM_004565.3(PEX14):c.382A>G (p.Lys128Glu)
NM_004565.3(PEX14):c.412G>A (p.Gly138Ser)
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln) rs147683525
NM_004565.3(PEX14):c.425G>A (p.Arg142Lys)
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg) rs145867351
NM_004565.3(PEX14):c.488-14C>T
NM_004565.3(PEX14):c.516C>T (p.Ser172=) rs543843635
NM_004565.3(PEX14):c.517G>T (p.Val173Phe) rs200019568
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488
NM_004565.3(PEX14):c.577G>A (p.Ala193Thr)
NM_004565.3(PEX14):c.585+4C>A
NM_004565.3(PEX14):c.626T>C (p.Ile209Thr)
NM_004565.3(PEX14):c.643G>A (p.Glu215Lys)
NM_004565.3(PEX14):c.707C>T (p.Pro236Leu)
NM_004565.3(PEX14):c.752C>T (p.Ser251Phe)
NM_004565.3(PEX14):c.762G>A (p.Ala254=)
NM_004565.3(PEX14):c.766G>A (p.Val256Met) rs143378690
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484
NM_004565.3(PEX14):c.816_818GTC[1] (p.Ser275del)
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu) rs727504081
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169
NM_004565.3(PEX14):c.855C>G (p.Gly285=) rs201107513
NM_004565.3(PEX14):c.860C>T (p.Thr287Met)
NM_004565.3(PEX14):c.861G>T (p.Thr287=) rs371329619
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser) rs886045017
NM_004565.3(PEX14):c.888G>T (p.Gln296His)
NM_004565.3(PEX14):c.897C>T (p.Gly299=) rs747580093
NM_004565.3(PEX14):c.902G>T (p.Gly301Val)
NM_004565.3(PEX14):c.911A>T (p.Asp304Val)
NM_004565.3(PEX14):c.912C>T (p.Asp304=)
NM_004565.3(PEX14):c.925G>T (p.Val309Leu) rs764272265
NM_004565.3(PEX14):c.945C>T (p.Gly315=)
NM_004565.3(PEX14):c.967A>G (p.Lys323Glu)
NM_004565.3(PEX14):c.970G>A (p.Glu324Lys)
NM_004565.3(PEX14):c.990G>T (p.Glu330Asp) rs145761201
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu) rs79954820
NM_004813.3(PEX16):c.*107C>T rs201513691
NM_004813.3(PEX16):c.*277C>T rs886048326
NM_004813.3(PEX16):c.*309G>C rs886048325
NM_004813.3(PEX16):c.*324G>A rs879320611
NM_004813.3(PEX16):c.*341C>T rs559300237
NM_004813.3(PEX16):c.*376G>A rs143868125
NM_004813.3(PEX16):c.*491G>A rs886048324
NM_004813.3(PEX16):c.*557G>C rs770223341
NM_004813.3(PEX16):c.1002T>C (p.Ser334=) rs144897515
NM_004813.3(PEX16):c.204G>T (p.Glu68Asp) rs149348130
NM_004813.3(PEX16):c.262G>A (p.Val88Met) rs567165324
NM_004813.3(PEX16):c.348C>T (p.Ile116=) rs886048328
NM_004813.3(PEX16):c.360-7G>A rs202161790
NM_004813.3(PEX16):c.461A>G (p.Asp154Gly) rs140695185
NM_004813.3(PEX16):c.499G>A (p.Val167Met) rs147332976
NM_004813.3(PEX16):c.540C>G (p.Asn180Lys) rs886048327
NM_004813.3(PEX16):c.593G>A (p.Arg198Gln) rs1319561377
NM_004813.3(PEX16):c.609C>T (p.His203=) rs537046144
NM_004813.3(PEX16):c.623C>T (p.Ala208Val) rs201173264
NM_004813.3(PEX16):c.628C>T (p.Pro210Ser) rs754114296
NM_004813.3(PEX16):c.694+11C>T rs763840804
NM_004813.3(PEX16):c.695-6C>T rs372182266
NM_004813.3(PEX16):c.699C>T (p.Leu233=) rs781411790
NM_004813.3(PEX16):c.726G>A (p.Ser242=) rs200414298
NM_004813.3(PEX16):c.812G>A (p.Arg271Gln) rs769838583
NM_004813.3(PEX16):c.859C>T (p.Arg287Cys) rs769772100
NM_004813.3(PEX16):c.877C>T (p.Arg293Cys) rs544053792
NM_004813.3(PEX16):c.918G>C (p.Leu306=) rs753109224
NM_004813.3(PEX16):c.946G>A (p.Val316Ile) rs775371916
NM_004813.4(PEX16):c.*175C>A
NM_004813.4(PEX16):c.*53C>G
NM_004813.4(PEX16):c.*70C>G
NM_004813.4(PEX16):c.-63G>C
NM_004813.4(PEX16):c.1006G>C (p.Gly336Arg)
NM_004813.4(PEX16):c.149-13C>G
NM_004813.4(PEX16):c.196C>T (p.Arg66Trp)
NM_004813.4(PEX16):c.197G>A (p.Arg66Gln)
NM_004813.4(PEX16):c.206T>G (p.Leu69Arg)
NM_004813.4(PEX16):c.209G>A (p.Arg70Gln)
NM_004813.4(PEX16):c.307G>C (p.Val103Leu)
NM_004813.4(PEX16):c.34C>A (p.Gln12Lys)
NM_004813.4(PEX16):c.418C>A (p.Pro140Thr)
NM_004813.4(PEX16):c.421A>G (p.Ile141Val)
NM_004813.4(PEX16):c.454C>A (p.Pro152Thr)
NM_004813.4(PEX16):c.458C>T (p.Pro153Leu)
NM_004813.4(PEX16):c.583C>T (p.Arg195Trp)
NM_004813.4(PEX16):c.592C>T (p.Arg198Trp)
NM_004813.4(PEX16):c.616C>G (p.Leu206Val)
NM_004813.4(PEX16):c.649_651del (p.Glu217del)
NM_004813.4(PEX16):c.672C>T (p.Tyr224=)
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) rs754024503
NM_004813.4(PEX16):c.706G>C (p.Gly236Arg)
NM_004813.4(PEX16):c.730A>C (p.Lys244Gln)
NM_004813.4(PEX16):c.814C>T (p.Arg272Trp)
NM_004813.4(PEX16):c.823C>T (p.Arg275Trp)
NM_004813.4(PEX16):c.824G>A (p.Arg275Gln)
NM_004813.4(PEX16):c.826C>T (p.Arg276Cys)
NM_004813.4(PEX16):c.861C>T (p.Arg287=)
NM_004813.4(PEX16):c.877C>A (p.Arg293Ser)
NM_004813.4(PEX16):c.937G>A (p.Val313Ile)
NM_007033.5(RER1):c.*1788C>T rs556816263
NM_007033.5(RER1):c.*1804G>A rs886046135
NM_007033.5(RER1):c.*1807G>A rs886046136
NM_007033.5(RER1):c.*1844G>A rs886046137
NM_007033.5(RER1):c.*1860G>T rs886046138
NM_007033.5(RER1):c.*1902dup rs886046139
NM_007033.5(RER1):c.*1910C>T rs886046140
NM_007033.5(RER1):c.*1954C>A rs886046141
NM_007033.5(RER1):c.*2015G>A rs886046142
NM_007033.5(RER1):c.*2048G>A rs760677467
NM_007033.5(RER1):c.*2143C>T rs886046143
NM_007033.5(RER1):c.*2222C>T rs868844283
NM_007033.5(RER1):c.*2232C>T rs886046144
NM_057174.2(PEX16):c.-164G>T rs773746164
NM_057174.2(PEX16):c.-184A>G rs745333570
NM_057174.2(PEX16):c.-265C>T rs886048330
NM_057174.2(PEX16):c.-290C>G rs886048331
NM_057174.2(PEX16):c.-305C>T rs886048332
NM_057174.2(PEX16):c.-67C>A rs886048329
NM_144709.4(PUS10):c.-16+316G>A rs571713221
NM_153818.1(PEX10):c.*10C>T rs367845280
NM_153818.1(PEX10):c.*16G>A rs886046146
NM_153818.1(PEX10):c.*304C>T rs758081067
NM_153818.1(PEX10):c.*310G>A rs539850807
NM_153818.1(PEX10):c.*91A>G rs886046145
NM_153818.1(PEX10):c.1027C>T (p.Arg343Trp) rs148903253
NM_153818.1(PEX10):c.1037G>A (p.Arg346His) rs140890506
NM_153818.1(PEX10):c.1039T>C (p.Ter347Arg) rs779199089
NM_153818.1(PEX10):c.1041A>G (p.Ter347Trp) rs1358135448
NM_153818.1(PEX10):c.194-5C>T rs375032738
NM_153818.1(PEX10):c.211G>A (p.Glu71Lys) rs1291325133
NM_153818.1(PEX10):c.220G>A (p.Val74Ile) rs768438726
NM_153818.1(PEX10):c.233A>G (p.Gln78Arg) rs766966222
NM_153818.1(PEX10):c.247C>T (p.Arg83Trp) rs377135853
NM_153818.1(PEX10):c.266C>T (p.Ser89Leu) rs769847524
NM_153818.1(PEX10):c.268C>T (p.Leu90=) rs775772867
NM_153818.1(PEX10):c.271C>T (p.Arg91Cys) rs747921371
NM_153818.1(PEX10):c.275G>A (p.Arg92His) rs375649043
NM_153818.1(PEX10):c.280G>A (p.Val94Met) rs142626035
NM_153818.1(PEX10):c.316C>T (p.Leu106=) rs140340426
NM_153818.1(PEX10):c.418G>C (p.Gly140Arg) rs76530653
NM_153818.1(PEX10):c.427C>T (p.Arg143Cys) rs199667764
NM_153818.1(PEX10):c.555C>T (p.His185=) rs75377471
NM_153818.1(PEX10):c.601-15G>A rs369211467
NM_153818.1(PEX10):c.634A>G (p.Met212Val) rs144264865
NM_153818.1(PEX10):c.665G>A (p.Arg222His) rs371979619
NM_153818.1(PEX10):c.671G>A (p.Arg224His) rs199934621
NM_153818.1(PEX10):c.687G>A (p.Glu229=) rs141430704
NM_153818.1(PEX10):c.771C>T (p.Tyr257=) rs761005209
NM_153818.1(PEX10):c.772G>C (p.Gly258Arg) rs61736380
NM_153818.1(PEX10):c.817C>T (p.Arg273Cys) rs756537855
NM_153818.1(PEX10):c.820G>A (p.Gly274Ser) rs761942658
NM_153818.1(PEX10):c.836+8C>T rs370594705
NM_153818.1(PEX10):c.872C>T (p.Pro291Leu) rs142088776
NM_153818.1(PEX10):c.876G>T (p.Leu292=) rs144440263
NM_153818.1(PEX10):c.887G>T (p.Cys296Phe) rs1414973726
NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) rs724160000
NM_153818.1(PEX10):c.899G>A (p.Arg300His) rs758678654
NM_153818.1(PEX10):c.928C>G (p.His310Asp) rs61752094
NM_153818.1(PEX10):c.956C>T (p.Ala319Val) rs78620392
NM_153818.1(PEX10):c.973-2A>C rs758250423
NM_153818.1(PEX10):c.975G>A (p.Ala325=) rs374891812
NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) rs724160001

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