ClinVar Miner

List of variants studied for Zellweger syndrome by Invitae

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 784
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.(?_2405746)_(2412522_?)del
NC_000001.11:g.(?_2405756)_(2412512_?)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_000007.14:g.(?_92487437)_(92487561_?)del
NC_000007.14:g.(?_92489273)_(92491522_?)del
NC_000007.14:g.(?_92509319)_(92509421_?)del
NC_000017.10:g.(?_33902781)_(33905060_?)dup
NC_000022.11:g.(?_17877577)_(18088075_?)dup
NM_000286.3(PEX12):c.1002G>A (p.Arg334=) rs200283718
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802
NM_000286.3(PEX12):c.1068C>T (p.Ser356=) rs779530147
NM_000286.3(PEX12):c.126+1G>T rs144259891
NM_000286.3(PEX12):c.182_184dup (p.Ile62_Phe63insLys) rs1412916235
NM_000286.3(PEX12):c.189T>C (p.Phe63=) rs369640430
NM_000286.3(PEX12):c.200A>G (p.Asp67Gly)
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.268_271del (p.Lys90fs) rs61752100
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.31del (p.Ala11fs)
NM_000286.3(PEX12):c.335A>G (p.Gln112Arg)
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp) rs193253559
NM_000286.3(PEX12):c.421G>A (p.Asp141Asn)
NM_000286.3(PEX12):c.442C>T (p.Pro148Ser)
NM_000286.3(PEX12):c.447T>C (p.Ser149=) rs375119247
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505
NM_000286.3(PEX12):c.452G>A (p.Arg151His) rs150186509
NM_000286.3(PEX12):c.538C>G (p.Arg180Gly)
NM_000286.3(PEX12):c.539G>A (p.Arg180Gln)
NM_000286.3(PEX12):c.543C>T (p.Tyr181=) rs192653658
NM_000286.3(PEX12):c.565C>T (p.His189Tyr)
NM_000286.3(PEX12):c.570A>G (p.Ser190=) rs758132842
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.62_63del (p.Ile20_Phe21insTer)
NM_000286.3(PEX12):c.661A>G (p.Met221Val)
NM_000286.3(PEX12):c.666G>A (p.Gln222=) rs759295117
NM_000286.3(PEX12):c.680G>A (p.Ser227Asn)
NM_000286.3(PEX12):c.681-2A>C rs187526749
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376
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.789G>A (p.Trp263Ter) rs747099919
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.867C>T (p.Asp289=) rs138720627
NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs) rs398123301
NM_000286.3(PEX12):c.905C>T (p.Thr302Ile)
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
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_000287.4(PEX6):c.1014C>T (p.Asp338=) rs140806942
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915
NM_000287.4(PEX6):c.1047-4G>T rs748779475
NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter)
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004
NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter)
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile)
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552
NM_000287.4(PEX6):c.1152_1154del (p.Val385del)
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys) rs150046979
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr)
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039
NM_000287.4(PEX6):c.1225T>C (p.Leu409=) rs1243719850
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.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu)
NM_000287.4(PEX6):c.127G>T (p.Ala43Ser)
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1335C>G (p.Leu445=) rs142958800
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
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.1417G>A (p.Gly473Ser) rs774874010
NM_000287.4(PEX6):c.141G>C (p.Pro47=) rs1464923917
NM_000287.4(PEX6):c.1456C>T (p.His486Tyr)
NM_000287.4(PEX6):c.1479+7G>A rs528161793
NM_000287.4(PEX6):c.1480-5C>T rs376473597
NM_000287.4(PEX6):c.1491C>T (p.Ser497=) rs79238506
NM_000287.4(PEX6):c.1512T>C (p.Ser504=) rs1013102900
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.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.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833
NM_000287.4(PEX6):c.1688+1G>T
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>A (p.Glu592Lys) rs375288192
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.1810A>G (p.Ile604Val)
NM_000287.4(PEX6):c.1821C>T (p.Ala607=) rs201730259
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter) rs781475201
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter)
NM_000287.4(PEX6):c.2010C>T (p.Ala670=) rs759328524
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser) rs752644254
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter) rs201306028
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp) rs748535121
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2094+4G>C
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2104G>A (p.Val702Met) rs377421228
NM_000287.4(PEX6):c.2108C>T (p.Ser703Phe)
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308
NM_000287.4(PEX6):c.219G>A (p.Gln73=) rs191944205
NM_000287.4(PEX6):c.2229T>C (p.His743=) rs145849057
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val)
NM_000287.4(PEX6):c.2301-9C>G
NM_000287.4(PEX6):c.233_234GC[2] (p.Leu80fs)
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr) rs61752141
NM_000287.4(PEX6):c.2362+1G>A rs1443107232
NM_000287.4(PEX6):c.2363-2A>C
NM_000287.4(PEX6):c.2364_2365del (p.Phe789Cysfs) rs755716911
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr)
NM_000287.4(PEX6):c.2436G>A (p.Arg812=) rs61732156
NM_000287.4(PEX6):c.2439del (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.247C>G (p.Leu83Val)
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala) rs187435179
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr)
NM_000287.4(PEX6):c.2573T>C (p.Leu858Pro)
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246
NM_000287.4(PEX6):c.2643C>T (p.Arg881=) rs150853105
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516
NM_000287.4(PEX6):c.2667-2A>C rs267608249
NM_000287.4(PEX6):c.2667-2A>G
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.2735C>T (p.Ala912Val)
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839
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.2867C>T (p.Ala956Val) rs200115671
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu)
NM_000287.4(PEX6):c.2928G>A (p.Lys976=) rs1230978438
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000287.4(PEX6):c.306G>T (p.Ala102=) rs727504083
NM_000287.4(PEX6):c.372G>C (p.Leu124=) rs752732049
NM_000287.4(PEX6):c.383_384GA[1] (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.39G>A (p.Pro13=) rs908372737
NM_000287.4(PEX6):c.402C>T (p.Pro134=) rs773371109
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln) rs376824422
NM_000287.4(PEX6):c.411G>A (p.Arg137=) rs769196737
NM_000287.4(PEX6):c.412G>A (p.Val138Met)
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031
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.543G>A (p.Val181=)
NM_000287.4(PEX6):c.586G>C (p.Gly196Arg)
NM_000287.4(PEX6):c.656del (p.Gln219fs)
NM_000287.4(PEX6):c.657G>A (p.Gln219=) rs375588028
NM_000287.4(PEX6):c.669G>C (p.Val223=) rs899965642
NM_000287.4(PEX6):c.685A>G (p.Arg229Gly) rs146571927
NM_000287.4(PEX6):c.685_686AG[4] (p.Ser232fs) rs398123305
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys) rs1260446318
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg) rs199697021
NM_000287.4(PEX6):c.753C>A (p.Leu251=) rs898341197
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser) rs758866060
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676
NM_000287.4(PEX6):c.819C>T (p.Val273=) rs748814053
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000287.4(PEX6):c.882+8A>G rs368663953
NM_000287.4(PEX6):c.883-8T>C rs777174653
NM_000287.4(PEX6):c.904G>A (p.Ala302Thr)
NM_000287.4(PEX6):c.969C>T (p.Ile323=) rs143001881
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys) rs201678533
NM_000288.4(PEX7):c.116A>G (p.His39Arg)
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
NM_000288.4(PEX7):c.130+1G>A rs267608253
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>C rs267608254
NM_000288.4(PEX7):c.188+3A>G rs200234391
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501
NM_000288.4(PEX7):c.216T>C (p.Asp72=) rs1582732837
NM_000288.4(PEX7):c.244G>A (p.Val82Ile)
NM_000288.4(PEX7):c.315A>G (p.Gln105=) rs767901695
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.340-8G>A rs528317074
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys)
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.418-1G>C
NM_000288.4(PEX7):c.418-4G>T rs199552223
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444
NM_000288.4(PEX7):c.640C>T (p.Leu214=) rs1582759870
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.6_12TGCGGTG[3] (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.867T>C (p.Thr289=) rs936175997
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_000288.4(PEX7):c.903+7G>T rs1227993935
NM_000288.4(PEX7):c.903+8A>G rs779919482
NM_000288.4(PEX7):c.904-4C>G
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg)
NM_000318.3(PEX2):c.129A>G (p.Gly43=) rs779946897
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) rs138590115
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala)
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779
NM_000318.3(PEX2):c.218del (p.Asn73fs) rs1586070089
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter) rs1586070043
NM_000318.3(PEX2):c.237A>G (p.Ser79=) rs138220337
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe) rs146354196
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177
NM_000318.3(PEX2):c.288G>A (p.Gln96=) rs370236723
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.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124
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.477G>A (p.Gln159=) rs35218706
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter) rs1586069639
NM_000318.3(PEX2):c.517A>G (p.Ile173Val)
NM_000318.3(PEX2):c.547_548AT[1] (p.Ile183fs)
NM_000318.3(PEX2):c.550= (p.Cys184=) rs10087163
NM_000318.3(PEX2):c.550del (p.Cys184fs) rs63545361
NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr) rs1266603500
NM_000318.3(PEX2):c.642G>A (p.Gln214=) rs1201496727
NM_000318.3(PEX2):c.66A>C (p.Ala22=) rs572094828
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn) rs200868032
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile) rs1264938864
NM_000318.3(PEX2):c.722G>T (p.Gly241Val) rs150734057
NM_000318.3(PEX2):c.732C>T (p.Cys244=) rs142121434
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro)
NM_000318.3(PEX2):c.738A>G (p.Leu246=) rs376101275
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg)
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp)
NM_000318.3(PEX2):c.78_80del (p.Asn26del)
NM_000318.3(PEX2):c.795T>C (p.Tyr265=) rs764785488
NM_000318.3(PEX2):c.825C>T (p.Asp275=) rs367649632
NM_000318.3(PEX2):c.826G>C (p.Val276Leu) rs746008519
NM_000318.3(PEX2):c.85C>T (p.Leu29=) rs1277480138
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000318.3(PEX2):c.96A>G (p.Leu32=) rs754405926
NM_000466.2(PEX1):c.-137T>C rs12386601
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583
NM_000466.3(PEX1):c.1059A>G (p.Leu353=) rs774522579
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.1152A>G (p.Leu384=) rs776933950
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter) rs1585254187
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly)
NM_000466.3(PEX1):c.1230G>A (p.Gly410=) rs539382251
NM_000466.3(PEX1):c.1239+1G>T rs756876301
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.1268A>G (p.Asn423Ser) rs200857848
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584
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.1404A>G (p.Ser468=) rs1488590344
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
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.1494A>G (p.Glu498=) rs774980172
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+7G>A rs371765274
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.1700T>G (p.Leu567Trp)
NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796
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.1797A>G (p.Gly599=) rs76986636
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556
NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter)
NM_000466.3(PEX1):c.1857A>G (p.Lys619=) rs1393403749
NM_000466.3(PEX1):c.1900+1G>A
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
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.1995C>T (p.Asp665=) rs758706584
NM_000466.3(PEX1):c.2032_2033CA[1] (p.His678fs) rs61750412
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631
NM_000466.3(PEX1):c.2071+3A>G
NM_000466.3(PEX1):c.2072-42_2085del
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg) rs1356967048
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
NM_000466.3(PEX1):c.2227-7T>C rs767127036
NM_000466.3(PEX1):c.2240A>C (p.Glu747Ala)
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs)
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.3(PEX1):c.2387_2388TC[2] (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr)
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000466.3(PEX1):c.2471del (p.Ala824fs) rs1585231093
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)
NM_000466.3(PEX1):c.249del (p.Lys83fs)
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe)
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146
NM_000466.3(PEX1):c.2565T>G (p.Thr855=) rs1472376635
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422
NM_000466.3(PEX1):c.2633_2635TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu) rs141764012
NM_000466.3(PEX1):c.2646G>T (p.Pro882=) rs775421085
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn)
NM_000466.3(PEX1):c.2718+3A>G rs370536529
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe)
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2783+2T>C rs1585224312
NM_000466.3(PEX1):c.2784-7T>C rs777893142
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer)
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val)
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425
NM_000466.3(PEX1):c.2853T>C (p.His951=) rs768094112
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2926+1G>A rs267608179
NM_000466.3(PEX1):c.2926+1del
NM_000466.3(PEX1):c.2926+2T>C rs267608180
NM_000466.3(PEX1):c.2926+4A>G
NM_000466.3(PEX1):c.2926+8T>C rs369877998
NM_000466.3(PEX1):c.2927-7C>A rs1585220765
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.2942C>T (p.Ala981Val)
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
NM_000466.3(PEX1):c.2979G>A (p.Leu993=) rs768697489
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln)
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.3003dup (p.Cys1002fs)
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000466.3(PEX1):c.3042T>G (p.Leu1014=) rs746546952
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.3066_3067CT[2] (p.Leu1024fs)
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.3130G>A (p.Gly1044Arg) rs371136331
NM_000466.3(PEX1):c.3172G>A (p.Ala1058Thr)
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg)
NM_000466.3(PEX1):c.3196A>C (p.Ser1066Arg)
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=) rs150190899
NM_000466.3(PEX1):c.3208-1G>A rs1057517518
NM_000466.3(PEX1):c.3208-3T>C
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg)
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=) rs148972713
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470
NM_000466.3(PEX1):c.3438G>A (p.Leu1146=) rs1585214175
NM_000466.3(PEX1):c.3451_3452CT[2] (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.357+202_1170del
NM_000466.3(PEX1):c.3598A>T (p.Ile1200Phe) rs886043722
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln)
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg)
NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053
NM_000466.3(PEX1):c.3762T>C (p.Ala1254=) rs375213175
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys) rs750722718
NM_000466.3(PEX1):c.453G>A (p.Thr151=) rs368714078
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.473-3C>T rs150576000
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro)
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro)
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408
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.645C>G (p.Thr215=) rs151041559
NM_000466.3(PEX1):c.647A>G (p.Lys216Arg)
NM_000466.3(PEX1):c.666T>C (p.Thr222=) rs145609203
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.721del (p.Ser241fs) rs894289737
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109
NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs)
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752
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.897C>T (p.Asn299=) rs559305030
NM_000466.3(PEX1):c.900G>A (p.Ala300=) rs372013709
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157
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.169A>G (p.Thr57Ala)
NM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs)
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.230+3A>G rs757200331
NM_001127649.3(PEX26):c.239A>T (p.Glu80Val)
NM_001127649.3(PEX26):c.23C>T (p.Ser8Phe)
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228
NM_001127649.3(PEX26):c.29C>T (p.Ala10Val) rs768425084
NM_001127649.3(PEX26):c.318C>G (p.Val106=) rs142072315
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.34dup (p.Leu12fs) rs61752129
NM_001127649.3(PEX26):c.352C>T (p.Pro118Ser)
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) rs61752135
NM_001127649.3(PEX26):c.354del (p.Val120fs)
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.441C>T (p.Asp147=) rs770611373
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657
NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter)
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.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.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.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.851C>T (p.Ala284Val)
NM_001127649.3(PEX26):c.862C>T (p.Arg288Cys)
NM_001127649.3(PEX26):c.882A>G (p.Ala294=) rs751507771
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_002617.3(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002617.4(PEX10):c.111G>T (p.Ala37=)
NM_002617.4(PEX10):c.144G>A (p.Glu48=) rs141263967
NM_002617.4(PEX10):c.248G>A (p.Arg83Gln)
NM_002617.4(PEX10):c.274C>G (p.Arg92Gly)
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523
NM_002617.4(PEX10):c.28dup (p.Glu10fs)
NM_002617.4(PEX10):c.291_292insTGCTGGTGACG (p.Leu98delinsCysTrpTer)
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.417A>G (p.Ser139=) rs780687424
NM_002617.4(PEX10):c.436C>T (p.Arg146Cys)
NM_002617.4(PEX10):c.447G>A (p.Thr149=)
NM_002617.4(PEX10):c.470G>A (p.Arg157Lys)
NM_002617.4(PEX10):c.513C>T (p.Leu171=) rs772790675
NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp)
NM_002617.4(PEX10):c.588G>A (p.Thr196=) rs766103610
NM_002617.4(PEX10):c.601-3C>T
NM_002617.4(PEX10):c.601-7C>T rs772097260
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser)
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510
NM_002617.4(PEX10):c.664dup (p.Val222fs)
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.771C>T (p.His257=) rs776503441
NM_002617.4(PEX10):c.772C>G (p.Arg258Gly)
NM_002617.4(PEX10):c.776+5G>A
NM_002617.4(PEX10):c.776+9G>A rs528387404
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.857C>T (p.Thr286Met)
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser)
NM_002617.4(PEX10):c.894C>T (p.Thr298=) rs138406081
NM_002617.4(PEX10):c.931C>T (p.Arg311Trp)
NM_002618.4(PEX13):c.1003G>A (p.Gly335Ser)
NM_002618.4(PEX13):c.1042G>C (p.Val348Leu)
NM_002618.4(PEX13):c.1044T>C (p.Val348=) rs151304822
NM_002618.4(PEX13):c.1058A>G (p.Gln353Arg)
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038
NM_002618.4(PEX13):c.1090G>A (p.Ala364Thr)
NM_002618.4(PEX13):c.1093A>G (p.Thr365Ala)
NM_002618.4(PEX13):c.1151C>G (p.Thr384Ser)
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.226A>G (p.Ser76Gly) rs148296743
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr) rs150161574
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser) rs367843599
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.325C>T (p.Arg109Cys) rs143972531
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) rs564528921
NM_002618.4(PEX13):c.353T>A (p.Phe118Tyr) rs749542687
NM_002618.4(PEX13):c.354T>C (p.Phe118=) rs143378216
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348
NM_002618.4(PEX13):c.43C>T (p.Arg15Cys)
NM_002618.4(PEX13):c.464A>G (p.Tyr155Cys) rs1298522041
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter) rs369851185
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro) rs1559035602
NM_002618.4(PEX13):c.508C>A (p.Arg170=)
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter) rs553968959
NM_002618.4(PEX13):c.580C>T (p.Arg194Trp)
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter) rs1559035738
NM_002618.4(PEX13):c.605G>A (p.Arg202Lys)
NM_002618.4(PEX13):c.661C>G (p.Leu221Val)
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308
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.914-4T>A rs774237731
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.98C>A (p.Ala33Asp)
NM_002857.3(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.3(PEX19):c.16G>A (p.Glu6Lys) rs145845197
NM_002857.3(PEX19):c.181-5C>T rs199818690
NM_002857.3(PEX19):c.215A>G (p.Gln72Arg) rs543271441
NM_002857.3(PEX19):c.21C>G (p.Gly7=) rs140039683
NM_002857.3(PEX19):c.254C>T (p.Ala85Val) rs11550119
NM_002857.3(PEX19):c.255G>A (p.Ala85=) rs150928521
NM_002857.3(PEX19):c.261C>T (p.Phe87=) rs146644725
NM_002857.3(PEX19):c.30C>T (p.Val10=) rs144440223
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.459G>A (p.Leu153=) rs78340311
NM_002857.3(PEX19):c.498T>G (p.Asp166Glu) rs142780305
NM_002857.3(PEX19):c.564G>A (p.Leu188=) rs149058086
NM_002857.3(PEX19):c.771+3A>G rs141133579
NM_002857.3(PEX19):c.857C>G (p.Ser286Trp) rs149976198
NM_002857.3(PEX19):c.878G>C (p.Gly293Ala) rs139875266
NM_002857.3(PEX19):c.879T>C (p.Gly293=) rs74125561
NM_002857.3(PEX19):c.87C>T (p.Phe29=) rs141911166
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_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.1074C>T (p.Asn358=) rs765001984
NM_004565.3(PEX14):c.1098G>T (p.Arg366=) rs139610784
NM_004565.3(PEX14):c.1107C>T (p.Gly369=) rs781098256
NM_004565.3(PEX14):c.1116C>T (p.Asn372=) rs149856184
NM_004565.3(PEX14):c.199T>C (p.Phe67Leu)
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230
NM_004565.3(PEX14):c.210G>A (p.Ser70=) rs755185539
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482
NM_004565.3(PEX14):c.222C>T (p.Ala74=) rs147043673
NM_004565.3(PEX14):c.247G>A (p.Ala83Thr) rs1557866347
NM_004565.3(PEX14):c.267C>G (p.Val89=) rs146359055
NM_004565.3(PEX14):c.269A>G (p.Gln90Arg)
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.299-8G>A rs112851814
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg) rs12068754
NM_004565.3(PEX14):c.331G>A (p.Ala111Thr)
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667
NM_004565.3(PEX14):c.36+10G>A rs780024607
NM_004565.3(PEX14):c.36+1G>T
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.400C>G (p.Leu134Val) rs140476337
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.465G>A (p.Leu155=) rs371111233
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg) rs145867351
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157
NM_004565.3(PEX14):c.504G>A (p.Thr168=) rs146781531
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754
NM_004565.3(PEX14):c.517G>T (p.Val173Phe) rs200019568
NM_004565.3(PEX14):c.567C>T (p.His189=) rs147210317
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.602A>G (p.Asn201Ser) rs142285791
NM_004565.3(PEX14):c.643G>A (p.Glu215Lys)
NM_004565.3(PEX14):c.693A>G (p.Pro231=) rs145899844
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.78G>A (p.Glu26=) rs144664869
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.860C>T (p.Thr287Met)
NM_004565.3(PEX14):c.873C>T (p.His291=) rs115117459
NM_004565.3(PEX14):c.897C>T (p.Gly299=) rs747580093
NM_004565.3(PEX14):c.902G>T (p.Gly301Val)
NM_004565.3(PEX14):c.945C>T (p.Gly315=)
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353
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_004813.3(PEX16):c.1002T>C (p.Ser334=) rs144897515
NM_004813.3(PEX16):c.148+7C>T rs1001236613
NM_004813.3(PEX16):c.149-6C>T rs78883829
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.303C>T (p.Ala101=) rs80275010
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.543G>A (p.Thr181=) rs144063598
NM_004813.3(PEX16):c.593G>A (p.Arg198Gln) rs1319561377
NM_004813.3(PEX16):c.623C>T (p.Ala208Val) rs201173264
NM_004813.3(PEX16):c.635C>G (p.Pro212Arg) rs201846257
NM_004813.3(PEX16):c.760G>C (p.Val254Leu) rs35214605
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.943C>T (p.Leu315=) rs150774189
NM_004813.3(PEX16):c.957G>A (p.Pro319=) rs751904831
NM_004813.3(PEX16):c.999C>T (p.Tyr333=) rs146657010
NM_004813.4(PEX16):c.1006G>C (p.Gly336Arg)
NM_004813.4(PEX16):c.196C>T (p.Arg66Trp)
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.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.649_651del (p.Glu217del)
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.877C>A (p.Arg293Ser)
NM_004813.4(PEX16):c.937G>A (p.Val313Ile)
NM_153818.1(PEX10):c.1027C>T (p.Arg343Trp) rs148903253
NM_153818.1(PEX10):c.220G>A (p.Val74Ile) rs768438726
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.318G>A (p.Leu106=) rs146452560
NM_153818.1(PEX10):c.332T>C (p.Leu111Pro) rs35426403
NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) rs61750434
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.435G>A (p.Met145Ile) rs368273118
NM_153818.1(PEX10):c.495C>T (p.Phe165=) rs150344828
NM_153818.1(PEX10):c.555C>T (p.His185=) rs75377471
NM_153818.1(PEX10):c.600+1G>A rs267608183
NM_153818.1(PEX10):c.623_624del (p.Leu208fs) rs1553231896
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.745G>C (p.Val249Leu) rs139345520
NM_153818.1(PEX10):c.752_763del (p.Ser251_Gln255delinsTer) rs768893724
NM_153818.1(PEX10):c.764dup (p.Leu256fs) rs61750435
NM_153818.1(PEX10):c.772G>C (p.Gly258Arg) rs61736380
NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) rs61752092
NM_153818.1(PEX10):c.817C>T (p.Arg273Cys) rs756537855
NM_153818.1(PEX10):c.825G>A (p.Leu275=) rs140133667
NM_153818.1(PEX10):c.836+8C>T rs370594705
NM_153818.1(PEX10):c.872C>T (p.Pro291Leu) rs142088776
NM_153818.1(PEX10):c.874_875del (p.Leu292fs) rs61752093
NM_153818.1(PEX10):c.876G>T (p.Leu292=) rs144440263
NM_153818.1(PEX10):c.880A>G (p.Thr294Ala) rs34154371
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.903G>A (p.Arg301=) rs35082957
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.975G>A (p.Ala325=) rs374891812
NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) rs724160001

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