ClinVar Miner

List of variants studied for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1001
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HGVS dbSNP
NC_000006.12:g.42966524C>T
NC_000007.13:g.(?_92118587)_(92120836_?)del
NC_000017.10:g.(?_33902781)_(33905060_?)dup
NM_000286.3(PEX12):c.*166C>A rs1037590
NM_000286.3(PEX12):c.*297T>C rs113891712
NM_000286.3(PEX12):c.*335T>C rs886052830
NM_000286.3(PEX12):c.*380G>C rs762716335
NM_000286.3(PEX12):c.*433T>C rs886052829
NM_000286.3(PEX12):c.*474A>G rs886052828
NM_000286.3(PEX12):c.*517A>G rs1046321
NM_000286.3(PEX12):c.*519A>G rs886052827
NM_000286.3(PEX12):c.*532A>G rs886052826
NM_000286.3(PEX12):c.*550_*552del rs147182821
NM_000286.3(PEX12):c.*569T>A rs541598688
NM_000286.3(PEX12):c.*569_*570del rs3031851
NM_000286.3(PEX12):c.*636T>C rs111424374
NM_000286.3(PEX12):c.*767_*771CTAAT[1] rs886052825
NM_000286.3(PEX12):c.*778G>A rs886052824
NM_000286.3(PEX12):c.*836G>C rs10068
NM_000286.3(PEX12):c.*880_*883del rs35050283
NM_000286.3(PEX12):c.*922T>C rs886052823
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.-405C>G rs886052834
NM_000286.3(PEX12):c.-427G>A rs531286605
NM_000286.3(PEX12):c.-428T>C rs321600
NM_000286.3(PEX12):c.-434A>C rs771210303
NM_000286.3(PEX12):c.-495C>T rs577172680
NM_000286.3(PEX12):c.-534C>T rs2278950
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.1044_1046ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs) rs1555549722
NM_000286.3(PEX12):c.126+1G>T rs144259891
NM_000286.3(PEX12):c.126+2T>A rs1555549902
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.190_194del (p.Thr64fs) rs1214971073
NM_000286.3(PEX12):c.1_2del (p.Met1fs) rs1555549923
NM_000286.3(PEX12):c.201_203TCT[1] (p.Leu70del) rs61752098
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
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.429_431inv (p.Tyr143_Ser144delinsTer) rs1555549862
NM_000286.3(PEX12):c.445_454del (p.Ser149fs) rs1567730901
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) rs888633730
NM_000286.3(PEX12):c.530_532AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter) rs61752105
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.644del (p.Pro215fs) rs1199283977
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter) rs1555549841
NM_000286.3(PEX12):c.680+1G>A rs904972651
NM_000286.3(PEX12):c.681-2A>C rs187526749
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.687_690del (p.Ser229fs) rs1555549769
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter) rs104894616
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
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.737C>A (p.Ser246Tyr) rs200413804
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs) rs1057519507
NM_000286.3(PEX12):c.771del (p.Leu258fs) rs1555549754
NM_000286.3(PEX12):c.781del (p.Asp262fs) rs754193088
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.84T>C (p.Ser28=) rs200641558
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) rs1366848752
NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs) rs398123301
NM_000286.3(PEX12):c.88_89del (p.Met30fs) rs1555549909
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) rs61752112
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.978C>A (p.Tyr326Ter) rs941358133
NM_000286.3(PEX12):c.983_984GT[2] (p.Phe330fs) rs764657253
NM_000287.3(PEX6):c.-39G>A rs76974379
NM_000287.3(PEX6):c.-55C>T rs9462859
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_000287.3(PEX6):c.2095-21_2095-10delCACGCACTTTCC rs772869377
NM_000287.4(PEX6):c.*168C>T rs886061410
NM_000287.4(PEX6):c.*212C>T rs1051218
NM_000287.4(PEX6):c.*319C>T rs736158
NM_000287.4(PEX6):c.*368G>A rs866465109
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.*438_*441TAAA[1] rs144286892
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915
NM_000287.4(PEX6):c.1046+1G>A rs1554127968
NM_000287.4(PEX6):c.1110A>G (p.Gly370=) rs886061411
NM_000287.4(PEX6):c.1130+2T>C rs1416001981
NM_000287.4(PEX6):c.1233+1G>A rs763459576
NM_000287.4(PEX6):c.1234-10C>T rs370661410
NM_000287.4(PEX6):c.1234-11A>G rs201879957
NM_000287.4(PEX6):c.1234-1G>T rs1554127533
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup) rs1421584986
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1368-2del rs1554127415
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala) rs1561823098
NM_000287.4(PEX6):c.1440_1442TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.1479+2del rs1554127383
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1962-1G>A rs267608229
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser)
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del) rs1162020526
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter)
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
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.2225T>C (p.Leu742Pro) rs267608235
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.2362+1G>A rs1443107232
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515
NM_000287.4(PEX6):c.2364_2365del (p.Phe789Cysfs) rs755716911
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229
NM_000287.4(PEX6):c.2439del (p.Arg814fs)
NM_000287.4(PEX6):c.2439dup (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.2472-2A>G rs267608242
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup) rs1554128546
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516
NM_000287.4(PEX6):c.2667-2A>C
NM_000287.4(PEX6):c.2692del (p.Leu898fs) rs1554126798
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104
NM_000287.4(PEX6):c.2730G>A (p.Thr910=) rs774721609
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002
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.2806+1G>A rs751900826
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr)
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.2936C>T (p.Ala979Val) rs115180949
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329
NM_000287.4(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.383_384GA[1] (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs) rs1554128488
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs) rs1554128586
NM_000287.4(PEX6):c.462del (p.Leu155fs) rs1554128476
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.504_505AG[1] (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212
NM_000287.4(PEX6):c.541_543GTG[1] (p.Val182del) rs1554128449
NM_000287.4(PEX6):c.548_550CCT[1] (p.Ser184del) rs1554128446
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.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.802_815del (p.Asp268fs) rs63749004
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.870G>C (p.Glu290Asp) rs150358700
NM_000287.4(PEX6):c.883-3T>C rs9986447
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.4(PEX7):c.130+1G>A
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.4(PEX7):c.363_526+230del
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
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.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.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_000318.2(PEX2):c.-273G>A rs367767138
NM_000318.2(PEX2):c.-278C>G rs886063142
NM_000318.2(PEX2):c.-335C>T rs886063143
NM_000318.2(PEX2):c.-367A>G rs886063144
NM_000318.2(PEX2):c.-369C>T rs886063145
NM_000318.3(PEX2):c.*103C>G rs529963492
NM_000318.3(PEX2):c.*1047T>A rs886063133
NM_000318.3(PEX2):c.*1085T>A rs886063132
NM_000318.3(PEX2):c.*1141G>A rs10108054
NM_000318.3(PEX2):c.*1194A>G rs4311633
NM_000318.3(PEX2):c.*1242A>G rs73691481
NM_000318.3(PEX2):c.*1370A>G rs886063131
NM_000318.3(PEX2):c.*1448C>T rs184740361
NM_000318.3(PEX2):c.*1466_*1468ATT[1] rs552746754
NM_000318.3(PEX2):c.*1561G>A rs886063130
NM_000318.3(PEX2):c.*1602A>G rs557330187
NM_000318.3(PEX2):c.*1696C>T rs112199677
NM_000318.3(PEX2):c.*1716A>G rs192555214
NM_000318.3(PEX2):c.*1755A>G rs886063129
NM_000318.3(PEX2):c.*1765G>A rs60300869
NM_000318.3(PEX2):c.*1811C>T rs886063128
NM_000318.3(PEX2):c.*1842G>C rs184573256
NM_000318.3(PEX2):c.*1854A>C rs886063127
NM_000318.3(PEX2):c.*1909G>T rs112352942
NM_000318.3(PEX2):c.*2007A>T rs558850392
NM_000318.3(PEX2):c.*2057G>A rs568202276
NM_000318.3(PEX2):c.*2142A>G rs79700176
NM_000318.3(PEX2):c.*2294C>G rs763651452
NM_000318.3(PEX2):c.*2306A>G rs59296540
NM_000318.3(PEX2):c.*2338C>T rs56231626
NM_000318.3(PEX2):c.*233C>G rs190595998
NM_000318.3(PEX2):c.*2377A>G rs4388434
NM_000318.3(PEX2):c.*2430T>C rs886063126
NM_000318.3(PEX2):c.*2446C>T rs73242165
NM_000318.3(PEX2):c.*2466A>G rs886063125
NM_000318.3(PEX2):c.*2518C>T rs886063124
NM_000318.3(PEX2):c.*2663T>A rs28435921
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.*40G>A rs148915806
NM_000318.3(PEX2):c.*458G>A rs143201132
NM_000318.3(PEX2):c.*489C>T rs886063136
NM_000318.3(PEX2):c.*595C>T rs754113775
NM_000318.3(PEX2):c.*627G>T rs145960090
NM_000318.3(PEX2):c.*727T>C rs4610720
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.-164C>A rs12718
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.139G>A (p.Gly47Arg)
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu) rs549242503
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter) rs200065382
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.349_351GAA[1] (p.Glu118del) rs1554584507
NM_000318.3(PEX2):c.354_355del (p.Arg119fs) rs1554584505
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.472del (p.Leu158fs) rs1554584487
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter)
NM_000318.3(PEX2):c.502_503del (p.Glu168fs) rs1554584474
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>A (p.Ala245Thr) rs112108739
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.782A>G (p.His261Arg) rs749956542
NM_000318.3(PEX2):c.829_833TACTT[1] (p.Phe278fs) rs267608188
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_000319.4(PEX5):c.*1080T>C rs755972180
NM_000319.4(PEX5):c.*1089T>C rs886049834
NM_000319.4(PEX5):c.*1134T>A rs769928491
NM_000319.4(PEX5):c.*1134T>C rs769928491
NM_000319.4(PEX5):c.*1134dup rs11448434
NM_000319.4(PEX5):c.*1139T>C rs886049836
NM_000319.4(PEX5):c.*1251G>A rs538222740
NM_000319.4(PEX5):c.*1259G>C rs148385560
NM_000319.4(PEX5):c.*132C>G rs753013794
NM_000319.4(PEX5):c.*141G>A rs3813737
NM_000319.4(PEX5):c.*179A>G rs192786621
NM_000319.4(PEX5):c.*1C>T rs886049827
NM_000319.4(PEX5):c.*322C>T rs764082627
NM_000319.4(PEX5):c.*403C>T rs886049828
NM_000319.4(PEX5):c.*446_*452dup rs771366153
NM_000319.4(PEX5):c.*452G>C rs185474091
NM_000319.4(PEX5):c.*462G>C rs75145323
NM_000319.4(PEX5):c.*495G>A rs776371289
NM_000319.4(PEX5):c.*627C>T rs146897980
NM_000319.4(PEX5):c.*628G>A rs12316371
NM_000319.4(PEX5):c.*677G>T rs886049830
NM_000319.4(PEX5):c.*722G>A rs886049831
NM_000319.4(PEX5):c.*755C>G rs1057225
NM_000319.4(PEX5):c.*75G>A rs112966367
NM_000319.4(PEX5):c.*794_*795dup rs112785895
NM_000319.4(PEX5):c.*81A>C rs183460108
NM_000319.4(PEX5):c.*891A>G rs371691416
NM_000319.4(PEX5):c.*960C>G rs78134587
NM_000319.4(PEX5):c.*991_*992dup rs886049833
NM_000319.4(PEX5):c.1255C>T (p.Arg419Ter) rs61752137
NM_000319.4(PEX5):c.1497C>T (p.Ala499=) rs150761638
NM_000319.4(PEX5):c.1498G>A (p.Val500Met) rs138028549
NM_000319.4(PEX5):c.1535A>G (p.Asn512Ser) rs139364109
NM_000319.4(PEX5):c.1554T>G (p.Asn518Lys) rs61752138
NM_000319.4(PEX5):c.1563C>T (p.Gly521=) rs144401814
NM_000319.4(PEX5):c.1608G>A (p.Ala536=) rs115338343
NM_000319.4(PEX5):c.1623C>G (p.Leu541=) rs753512677
NM_000319.4(PEX5):c.1629C>G (p.Leu543=) rs200215904
NM_000319.4(PEX5):c.1694+13A>G rs116873137
NM_000319.4(PEX5):c.1713T>C (p.Phe571=) rs753159772
NM_000319.4(PEX5):c.1790G>A (p.Ser597Asn) rs146567534
NM_000319.4(PEX5):c.1826G>C (p.Ser609Thr) rs751637149
NM_000319.4(PEX5):c.1849G>A (p.Ala617Thr) rs143600154
NM_000319.4(PEX5):c.1851G>A (p.Ala617=) rs371233272
NM_000319.4(PEX5):c.1878G>A (p.Met626Ile) rs145886418
NM_000319.4(PEX5):c.371C>G (p.Ala124Gly) rs143307183
NM_000319.4(PEX5):c.498A>G (p.Gln166=) rs756714515
NM_000319.4(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_000319.4(PEX5):c.551+15C>T rs886049825
NM_000319.4(PEX5):c.552-7G>A rs189631769
NM_000319.4(PEX5):c.604G>C (p.Val202Leu) rs149102738
NM_000319.4(PEX5):c.643-5C>T rs886049826
NM_000319.4(PEX5):c.754-4G>A rs111286659
NM_000319.4(PEX5):c.815T>C (p.Met272Thr) rs76708142
NM_000319.4(PEX5):c.885T>C (p.Ala295=) rs376649488
NM_000319.4(PEX5):c.942+3G>A rs373763823
NM_000319.4(PEX5):c.943-15G>A rs201341037
NM_000466.2(PEX1):c.-137T>C rs12386601
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.2(PEX1):c.2584-11_2584-10delTT rs5885806
NM_000466.2(PEX1):c.3767+1_3767+2dup rs1383361108
NM_000466.3(PEX1):c.*133G>C rs886062500
NM_000466.3(PEX1):c.*241T>C rs886062499
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.-53C>G rs12386703
NM_000466.3(PEX1):c.-74A>G rs886062510
NM_000466.3(PEX1):c.1072_1073GA[1] (p.Lys359fs) rs1057517488
NM_000466.3(PEX1):c.1076del (p.Lys359fs) rs1057517465
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1108dup (p.Ile370fs)
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer) rs1057517520
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)
NM_000466.3(PEX1):c.122_124TGC[3] (p.Leu42dup) rs1554378340
NM_000466.3(PEX1):c.1239+1G>A rs756876301
NM_000466.3(PEX1):c.1239+1G>T rs756876301
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.130-1G>C rs1028247729
NM_000466.3(PEX1):c.130-2A>G
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1360-4G>T rs199716270
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.1414C>T (p.Gln472Ter) rs1554373801
NM_000466.3(PEX1):c.1439del (p.Leu480fs) rs1554373787
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229
NM_000466.3(PEX1):c.1499_1500CT[1] (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1522dup (p.Glu508fs) rs1057517463
NM_000466.3(PEX1):c.1524_1529AAAAGA[1] (p.508_509EK[1]) rs1554373613
NM_000466.3(PEX1):c.1527del (p.Glu510fs) rs1057517497
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
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+2T>C rs1554373578
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1645C>T (p.Pro549Ser)
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000466.3(PEX1):c.1670+1G>T rs1057517490
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1671-7T>C rs74519968
NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter) rs1057517489
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs) rs1562857333
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) rs1554372561
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del)
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter) rs1057517464
NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs) rs1057517529
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1927dup (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs) rs1057517486
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.2032_2033CA[1] (p.His678fs) rs61750412
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del) rs1554372090
NM_000466.3(PEX1):c.2071+2T>C rs1478905473
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val) rs150351763
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg)
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3]) rs1554371691
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs) rs1057517499
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del) rs1554371157
NM_000466.3(PEX1):c.2278G>C (p.Asp760His)
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000466.3(PEX1):c.2332G>A (p.Gly778Arg)
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505
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.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.2471del (p.Ala824fs)
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) rs1385204416
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-9del rs886062504
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter) rs1057517470
NM_000466.3(PEX1):c.2633_2635TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2718+3A>G rs370536529
NM_000466.3(PEX1):c.2719-2A>G rs1554369234
NM_000466.3(PEX1):c.2723del (p.Pro908fs) rs1057517503
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2783+2T>C
NM_000466.3(PEX1):c.2783+6T>C
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2817_2819TGA[1] (p.Asp940del) rs1554368794
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.2845C>T (p.Arg949Trp)
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro)
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+2T>C rs267608180
NM_000466.3(PEX1):c.2927-12T>A rs375062546
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
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.3031G>A (p.Val1011Met) rs141650598
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3062G>A (p.Ser1021Asn) rs1330798276
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del) rs1554368148
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.3205C>T (p.Gln1069Ter) rs1562846113
NM_000466.3(PEX1):c.3207+2C>A rs1554368097
NM_000466.3(PEX1):c.3208-1G>A rs1057517518
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs) rs1057517509
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer) rs1554367358
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652
NM_000466.3(PEX1):c.3438+1G>T rs1554367284
NM_000466.3(PEX1):c.3438G>A (p.Leu1146=)
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994
NM_000466.3(PEX1):c.3451_3452CT[2] (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3451_3452CT[4] (p.Ala1153fs) rs759183382
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter) rs1057517487
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430
NM_000466.3(PEX1):c.3546A>G (p.Gln1182=) rs886062502
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter) rs1057517480
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile) rs749324355
NM_000466.3(PEX1):c.357+1G>A rs866144313
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.3578_3579GA[1] (p.Asp1194fs) rs1160117945
NM_000466.3(PEX1):c.3579del (p.Asp1194fs) rs1554366802
NM_000466.3(PEX1):c.358-11G>C rs113104510
NM_000466.3(PEX1):c.358-15G>A rs38809
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.358-2A>G rs1057517500
NM_000466.3(PEX1):c.3598A>T (p.Ile1200Phe) rs886043722
NM_000466.3(PEX1):c.3626del (p.Ser1209fs) rs1554366766
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=) rs886062501
NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs) rs769836601
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.3720C>T (p.His1240=) rs34825053
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.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.3823C>T (p.Arg1275Ter) rs755549316
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys)
NM_000466.3(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.3(PEX1):c.431dup (p.Val145fs) rs1057517506
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.472+1G>A rs762852144
NM_000466.3(PEX1):c.473-1G>A rs1554375661
NM_000466.3(PEX1):c.473-1G>C rs1554375661
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.578A>G (p.Asp193Gly) rs886062507
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.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257
NM_000466.3(PEX1):c.734del (p.Leu245fs) rs1057517522
NM_000466.3(PEX1):c.760dup (p.Ser254fs) rs1554375511
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506
NM_000466.3(PEX1):c.888_889TA[6] (p.Asn299delinsIleTer) rs1057517505
NM_000466.3(PEX1):c.909_910CT[1] (p.Ser304fs) rs786204638
NM_001079867.1(PEX2):c.218del (p.Asn73fs)
NM_001079867.1(PEX2):c.550del (p.Arg184fs)
NM_001079867.1(PEX2):c.739T>C (p.Cys247Arg) rs61752128
NM_001131023.1(PEX5):c.-17+22_-17+40delinsCC rs775869915
NM_001131025.1(PEX5):c.-145G>A rs542096066
NM_001131025.1(PEX5):c.-193T>A rs113752912
NM_001131025.1(PEX5):c.-210G>T rs117442311
NM_001131025.1(PEX5):c.-243G>A rs754651589
NM_001131025.1(PEX5):c.-295T>C rs186539500
NM_001131025.1(PEX5):c.-298T>C rs779168691
NM_001131025.1(PEX5):c.-332G>A rs146875386
NM_001131025.1(PEX5):c.-443T>C rs796452917
NM_001131025.1(PEX5):c.-462_-461insCCG rs886049824
NM_001131025.1(PEX5):c.-486C>G rs12227917
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_001199319.1(PEX26):c.-148C>T rs115617644
NM_001199319.1(PEX26):c.-167C>T rs886057244
NM_002618.4(PEX13):c.*1194G>A rs75205376
NM_002618.4(PEX13):c.*1283C>G rs886056201
NM_002618.4(PEX13):c.*1377G>A rs536283006
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.*1652G>A rs72877535
NM_002618.4(PEX13):c.*1724A>T rs137932203
NM_002618.4(PEX13):c.*1875_*1876del rs886056205
NM_002618.4(PEX13):c.*1943G>A rs183689971
NM_002618.4(PEX13):c.*1961T>C rs771587917
NM_002618.4(PEX13):c.*1998T>C rs559684247
NM_002618.4(PEX13):c.*2147A>G rs2564097
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.*2296G>A rs886056208
NM_002618.4(PEX13):c.*233G>T rs886056198
NM_002618.4(PEX13):c.*2356T>C rs139999174
NM_002618.4(PEX13):c.*263A>T rs558525565
NM_002618.4(PEX13):c.*2642T>C rs886056209
NM_002618.4(PEX13):c.*2989_*2990del rs886056210
NM_002618.4(PEX13):c.*298G>C rs886056199
NM_002618.4(PEX13):c.*3012A>G rs144691386
NM_002618.4(PEX13):c.*3038A>T rs886056211
NM_002618.4(PEX13):c.*3044del rs886056212
NM_002618.4(PEX13):c.*358G>A rs1177230
NM_002618.4(PEX13):c.*383A>T rs149099359
NM_002618.4(PEX13):c.*442dup rs201619544
NM_002618.4(PEX13):c.*676A>G rs886056200
NM_002618.4(PEX13):c.*775G>A rs143032208
NM_002618.4(PEX13):c.*803A>G rs561112537
NM_002618.4(PEX13):c.*813G>C rs781689721
NM_002618.4(PEX13):c.*90A>G rs535967834
NM_002618.4(PEX13):c.*944C>T rs148184159
NM_002618.4(PEX13):c.*952C>T rs56739127
NM_002618.4(PEX13):c.*956G>T rs141215166
NM_002618.4(PEX13):c.-12G>A rs886056195
NM_002618.4(PEX13):c.-6G>C rs147461642
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) rs371789976
NM_002618.4(PEX13):c.1180A>T (p.Ile394Phe)
NM_002618.4(PEX13):c.193A>G (p.Ser65Gly) rs886056196
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.275G>A (p.Gly92Asp) rs745620818
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.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.464A>G (p.Tyr155Cys) rs1298522041
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter)
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro) rs1559035602
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter)
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter) rs1559035738
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter) rs104893661
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr) rs145568490
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002857.3(PEX19):c.*1084T>C rs77962224
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.*169C>T rs192931972
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.*2057T>G rs56089807
NM_002857.3(PEX19):c.*2068T>C rs536872409
NM_002857.3(PEX19):c.*2155C>T rs886045439
NM_002857.3(PEX19):c.*2156C>G rs10594
NM_002857.3(PEX19):c.*2353G>T rs9853
NM_002857.3(PEX19):c.*2417_*2418CT[2] rs143491060
NM_002857.3(PEX19):c.*2536A>G rs141829599
NM_002857.3(PEX19):c.*2555T>G rs148123121
NM_002857.3(PEX19):c.*2637G>A rs41265787
NM_002857.3(PEX19):c.*2717A>G rs574056299
NM_002857.3(PEX19):c.*328A>G rs115260345
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.*487T>A rs16831724
NM_002857.3(PEX19):c.*662C>T rs773981843
NM_002857.3(PEX19):c.*77delA rs771535781
NM_002857.3(PEX19):c.*854G>A rs747191827
NM_002857.3(PEX19):c.*896A>G rs886045445
NM_002857.3(PEX19):c.*898A>G rs8989
NM_002857.3(PEX19):c.*934A>G rs886045444
NM_002857.3(PEX19):c.*998G>A rs886045443
NM_002857.3(PEX19):c.-14T>G rs2301297
NM_002857.3(PEX19):c.-41C>T rs113442137
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.181-15A>G rs114403769
NM_002857.3(PEX19):c.181-4G>T rs747572423
NM_002857.3(PEX19):c.181-5C>T rs199818690
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.433-11G>T rs41265791
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.771+3A>G rs141133579
NM_002857.3(PEX19):c.879T>C (p.Gly293=) rs74125561
NM_003630.2(PEX3):c.-247T>C rs138955442
NM_003630.3(PEX3):c.*1074A>G rs553070296
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.*1335A>G rs9403495
NM_003630.3(PEX3):c.*220G>A rs117247312
NM_003630.3(PEX3):c.*307_*308TA[7] rs1326299129
NM_003630.3(PEX3):c.*319A>T rs223234
NM_003630.3(PEX3):c.*321_*322del rs771525459
NM_003630.3(PEX3):c.*391G>A rs140007169
NM_003630.3(PEX3):c.*424T>C rs189379544
NM_003630.3(PEX3):c.*546A>G rs10809
NM_003630.3(PEX3):c.*573A>G rs886061135
NM_003630.3(PEX3):c.*677C>T rs886061136
NM_003630.3(PEX3):c.*793T>C rs535466526
NM_003630.3(PEX3):c.*895G>A rs3804545
NM_003630.3(PEX3):c.*958T>C rs41285019
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.-197T>C rs184934783
NM_003630.3(PEX3):c.-214G>C rs886061129
NM_003630.3(PEX3):c.-4A>G rs116692495
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg) rs35220041
NM_003630.3(PEX3):c.249A>G (p.Gln83=) rs139760270
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg) rs1562654527
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.887C>T (p.Ala296Val) rs886061132
NM_003630.3(PEX3):c.942-13A>G rs161058
NM_003630.3(PEX3):c.942-8T>G rs267608193
NM_003630.3(PEX3):c.96T>C (p.Tyr32=) rs201718910
NM_004565.3(PEX14):c.*174C>T rs886045018
NM_004565.3(PEX14):c.*400G>T rs886045019
NM_004565.3(PEX14):c.*515C>T rs886045020
NM_004565.3(PEX14):c.*564C>T rs561807671
NM_004565.3(PEX14):c.*576A>G rs530124005
NM_004565.3(PEX14):c.*755del rs548721184
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414
NM_004565.3(PEX14):c.1015G>A (p.Glu339Lys)
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482
NM_004565.3(PEX14):c.247G>A (p.Ala83Thr) rs1557866347
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.349G>T (p.Ala117Ser) rs12061667
NM_004565.3(PEX14):c.36+8G>A rs200154696
NM_004565.3(PEX14):c.381C>T (p.Tyr127=) rs372630614
NM_004565.3(PEX14):c.384+14A>T rs284238
NM_004565.3(PEX14):c.400C>G (p.Leu134Val) rs140476337
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754
NM_004565.3(PEX14):c.553C>T (p.Gln185Ter) rs61752116
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022
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.825G>A (p.Ser275=) rs143412169
NM_004565.3(PEX14):c.855C>G (p.Gly285=) rs201107513
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser) rs886045017
NM_004565.3(PEX14):c.925G>T (p.Val309Leu) rs764272265
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353
NM_004565.3(PEX14):c.990G>T (p.Glu330Asp)
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu) rs79954820
NM_004813.2(PEX16):c.-164G>T rs773746164
NM_004813.2(PEX16):c.-184A>G rs745333570
NM_004813.2(PEX16):c.-265C>T rs886048330
NM_004813.2(PEX16):c.-279G>A rs2280330
NM_004813.2(PEX16):c.-290C>G rs886048331
NM_004813.2(PEX16):c.-305C>T rs886048332
NM_004813.2(PEX16):c.-67C>A rs886048329
NM_004813.3(PEX16):c.*587A>G rs72902478
NM_007033.5(RER1):c.*1788C>T rs556816263
NM_007033.5(RER1):c.*1807G>A rs886046136
NM_007033.5(RER1):c.*2222C>T rs868844283
NM_007033.5(RER1):c.*2232C>T rs886046144
NM_017929.5(PEX26):c.668_814del (p.Gly223_Pro271del)
NM_017929.6(PEX26):c.*1003T>G rs79085553
NM_017929.6(PEX26):c.*10C>T rs117472525
NM_017929.6(PEX26):c.*112C>T rs761715161
NM_017929.6(PEX26):c.*1136G>A rs886057251
NM_017929.6(PEX26):c.*113G>A rs199653646
NM_017929.6(PEX26):c.*114C>T rs45500699
NM_017929.6(PEX26):c.*1152G>C rs886057252
NM_017929.6(PEX26):c.*1171G>A rs184116244
NM_017929.6(PEX26):c.*1194G>A rs118188952
NM_017929.6(PEX26):c.*1265T>A rs456551
NM_017929.6(PEX26):c.*1283C>T rs73876563
NM_017929.6(PEX26):c.*133C>T rs200243782
NM_017929.6(PEX26):c.*1532_*1535dup rs361782
NM_017929.6(PEX26):c.*1590G>A rs5992169
NM_017929.6(PEX26):c.*1608G>A rs116824049
NM_017929.6(PEX26):c.*1623G>T rs114698763
NM_017929.6(PEX26):c.*1623_*1626GTTT[7] rs375436648
NM_017929.6(PEX26):c.*1631G>T rs886057254
NM_017929.6(PEX26):c.*1635G>C rs361703
NM_017929.6(PEX26):c.*1661_*1662insACTC rs361571
NM_017929.6(PEX26):c.*1669C>G rs112015789
NM_017929.6(PEX26):c.*167G>A rs464385
NM_017929.6(PEX26):c.*1684T>C rs886057255
NM_017929.6(PEX26):c.*1720G>A rs749348676
NM_017929.6(PEX26):c.*1740C>G rs139987168
NM_017929.6(PEX26):c.*1778C>T rs79447039
NM_017929.6(PEX26):c.*1859A>C rs146739242
NM_017929.6(PEX26):c.*1957G>A rs11913772
NM_017929.6(PEX26):c.*2051A>G rs361946
NM_017929.6(PEX26):c.*2070del rs886057256
NM_017929.6(PEX26):c.*2155A>G rs773334209
NM_017929.6(PEX26):c.*2162G>A rs45489191
NM_017929.6(PEX26):c.*2281T>C rs362209
NM_017929.6(PEX26):c.*2285C>T rs886057257
NM_017929.6(PEX26):c.*2311G>T rs74714634
NM_017929.6(PEX26):c.*2386C>G rs148534099
NM_017929.6(PEX26):c.*2449C>T rs140919342
NM_017929.6(PEX26):c.*2452G>C rs886057258
NM_017929.6(PEX26):c.*2479G>A rs537299090
NM_017929.6(PEX26):c.*2647G>A rs886057259
NM_017929.6(PEX26):c.*2701G>C rs114075265
NM_017929.6(PEX26):c.*2724G>C rs58564536
NM_017929.6(PEX26):c.*2768C>T rs886057260
NM_017929.6(PEX26):c.*2799dup rs751296123
NM_017929.6(PEX26):c.*2807_*2808del rs754613851
NM_017929.6(PEX26):c.*280G>A rs188897908
NM_017929.6(PEX26):c.*2878C>T rs116424707
NM_017929.6(PEX26):c.*400C>T rs74988725
NM_017929.6(PEX26):c.*464A>G rs141229564
NM_017929.6(PEX26):c.*533A>C rs886057247
NM_017929.6(PEX26):c.*568G>A rs886057248
NM_017929.6(PEX26):c.*609_*610GA[3] rs886057249
NM_017929.6(PEX26):c.*692T>C rs79936154
NM_017929.6(PEX26):c.*754A>G rs114146293
NM_017929.6(PEX26):c.*812C>T rs886057250
NM_017929.6(PEX26):c.*828C>T rs551641353
NM_017929.6(PEX26):c.*829A>G rs362057
NM_017929.6(PEX26):c.*912C>T rs79240512
NM_017929.6(PEX26):c.*917C>T rs9605518
NM_017929.6(PEX26):c.*925A>G rs115277831
NM_017929.6(PEX26):c.*943G>A rs79785382
NM_017929.6(PEX26):c.*944C>A rs78412274
NM_017929.6(PEX26):c.*954T>C rs188986907
NM_017929.6(PEX26):c.*977C>T rs181706274
NM_017929.6(PEX26):c.*987T>C rs361807
NM_017929.6(PEX26):c.-115G>C rs138787474
NM_017929.6(PEX26):c.-127G>A rs752393777
NM_017929.6(PEX26):c.-133C>T rs561094254
NM_017929.6(PEX26):c.-82+12A>G rs62239019
NM_017929.6(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_017929.6(PEX26):c.153C>A (p.Phe51Leu) rs777633990
NM_017929.6(PEX26):c.185G>A (p.Trp62Ter) rs1556586479
NM_017929.6(PEX26):c.198C>T (p.Ala66=) rs374290931
NM_017929.6(PEX26):c.200A>G (p.Asn67Ser) rs201884779
NM_017929.6(PEX26):c.207C>T (p.Ala69=) rs375516973
NM_017929.6(PEX26):c.208G>T (p.Val70Leu) rs766581207
NM_017929.6(PEX26):c.230+1G>T rs267608190
NM_017929.6(PEX26):c.230+8C>T rs886057245
NM_017929.6(PEX26):c.254dup (p.Cys86fs) rs61752133
NM_017929.6(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_017929.6(PEX26):c.292C>T (p.Arg98Trp) rs62641228
NM_017929.6(PEX26):c.296G>A (p.Trp99Ter) rs62641229
NM_017929.6(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_017929.6(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_017929.6(PEX26):c.571C>T (p.Arg191Trp) rs150451390
NM_017929.6(PEX26):c.625G>T (p.Glu209Ter) rs886057246
NM_017929.6(PEX26):c.643G>A (p.Glu215Lys) rs138232280
NM_017929.6(PEX26):c.710G>A (p.Arg237His)
NM_017929.6(PEX26):c.728C>T (p.Ala243Val) rs149153003
NM_017929.6(PEX26):c.815-13C>T rs139370593
NM_017929.6(PEX26):c.889C>T (p.Arg297Cys) rs780701336
NM_017929.6(PEX26):c.911G>A (p.Arg304His) rs17851387
NM_057174.2(PEX16):c.*112C>T rs886048326
NM_057174.2(PEX16):c.*138C>T rs10838529
NM_057174.2(PEX16):c.*144G>C rs886048325
NM_057174.2(PEX16):c.*159G>A rs879320611
NM_057174.2(PEX16):c.*176C>T rs559300237
NM_057174.2(PEX16):c.*211G>A rs143868125
NM_057174.2(PEX16):c.*211G>C rs143868125
NM_057174.2(PEX16):c.*273C>T rs2280328
NM_057174.2(PEX16):c.*326G>A rs886048324
NM_057174.2(PEX16):c.*392G>C rs770223341
NM_057174.2(PEX16):c.*434G>A rs2280329
NM_057174.2(PEX16):c.1034A>C (p.His345Pro) rs79435202
NM_057174.2(PEX16):c.204G>T (p.Glu68Asp) rs149348130
NM_057174.2(PEX16):c.303C>T (p.Ala101=) rs80275010
NM_057174.2(PEX16):c.348C>T (p.Ile116=) rs886048328
NM_057174.2(PEX16):c.360-7G>A rs202161790
NM_057174.2(PEX16):c.461A>G (p.Asp154Gly) rs140695185
NM_057174.2(PEX16):c.526C>T (p.Arg176Ter) rs61752117
NM_057174.2(PEX16):c.540C>G (p.Asn180Lys) rs886048327
NM_057174.2(PEX16):c.609C>T (p.His203=) rs537046144
NM_057174.2(PEX16):c.628C>T (p.Pro210Ser) rs754114296
NM_057174.2(PEX16):c.694+11C>T rs763840804
NM_057174.2(PEX16):c.695-6C>T rs372182266
NM_057174.2(PEX16):c.699C>T (p.Leu233=) rs781411790
NM_057174.2(PEX16):c.726G>A (p.Ser242=) rs200414298
NM_057174.2(PEX16):c.760G>C (p.Val254Leu) rs35214605
NM_057174.2(PEX16):c.873T>C (p.Tyr291=) rs1132349
NM_057174.2(PEX16):c.918G>C (p.Leu306=) rs753109224
NM_057174.2(PEX16):c.946G>A (p.Val316Ile) rs775371916
NM_057174.2(PEX16):c.953-12T>C rs16938413
NM_057174.2(PEX16):c.953-86T>C rs144897515
NM_057174.2(PEX16):c.983C>T (p.Pro328Leu) rs201513691
NM_144709.4(PUS10):c.-16+316G>A rs571713221
NM_153818.1(PEX10):c.*10C>T rs367845280
NM_153818.1(PEX10):c.*11G>A rs3795270
NM_153818.1(PEX10):c.*16G>A rs886046146
NM_153818.1(PEX10):c.*173G>A rs1129171
NM_153818.1(PEX10):c.*304C>T rs758081067
NM_153818.1(PEX10):c.*310G>A rs539850807
NM_153818.1(PEX10):c.*352G>A rs115735911
NM_153818.1(PEX10):c.*499G>A rs886046143
NM_153818.1(PEX10):c.*594C>T rs760677467
NM_153818.1(PEX10):c.*627C>T rs886046142
NM_153818.1(PEX10):c.*688G>T rs886046141
NM_153818.1(PEX10):c.*732G>A rs886046140
NM_153818.1(PEX10):c.*744dup rs886046139
NM_153818.1(PEX10):c.*782C>A rs886046138
NM_153818.1(PEX10):c.*798C>T rs886046137
NM_153818.1(PEX10):c.*838C>T rs886046135
NM_153818.1(PEX10):c.*91A>G rs886046145
NM_153818.1(PEX10):c.-52_-51delTG rs570192538
NM_153818.1(PEX10):c.1012_1014del (p.Lys338del) rs1553231582
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.113-1G>A rs867305222
NM_153818.1(PEX10):c.194-5C>T rs375032738
NM_153818.1(PEX10):c.1A>G (p.Met1Val) rs886041314
NM_153818.1(PEX10):c.20del (p.Ser7fs) rs1553232926
NM_153818.1(PEX10):c.211G>A (p.Glu71Lys) rs1291325133
NM_153818.1(PEX10):c.233A>G (p.Gln78Arg) rs766966222
NM_153818.1(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_153818.1(PEX10):c.275G>A (p.Arg92His) rs375649043
NM_153818.1(PEX10):c.279C>T (p.Gly93=) rs1143016
NM_153818.1(PEX10):c.280G>A (p.Val94Met) rs142626035
NM_153818.1(PEX10):c.291A>G (p.Thr97=) rs2494598
NM_153818.1(PEX10):c.2T>C (p.Met1Thr) rs724160002
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.338del (p.Leu113fs) rs878853044
NM_153818.1(PEX10):c.352C>T (p.Gln118Ter) rs369965266
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.4del (p.Ala2fs) rs62636524
NM_153818.1(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_153818.1(PEX10):c.555C>T (p.His185=) rs75377471
NM_153818.1(PEX10):c.600+1G>A rs267608183
NM_153818.1(PEX10):c.600+1del rs1553232077
NM_153818.1(PEX10):c.601-15G>A rs369211467
NM_153818.1(PEX10):c.623_624del (p.Leu208fs) rs1553231896
NM_153818.1(PEX10):c.635_636delinsCTC (p.Met212fs) rs1553231888
NM_153818.1(PEX10):c.637_638del (p.Ser213fs) rs1553231875
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.6C>G (p.Ala2=) rs112471479
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.771C>T (p.Tyr257=) rs761005209
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.815_816del (p.His272fs) rs1325771720
NM_153818.1(PEX10):c.820G>A (p.Gly274Ser) rs761942658
NM_153818.1(PEX10):c.821del (p.Gly274fs) rs1553231820
NM_153818.1(PEX10):c.836+2T>A rs1335685844
NM_153818.1(PEX10):c.836+2T>C rs1335685844
NM_153818.1(PEX10):c.836+8C>T rs370594705
NM_153818.1(PEX10):c.850G>T (p.Glu284Ter) rs769251149
NM_153818.1(PEX10):c.851_852AG[2] (p.Arg285fs) rs1553231787
NM_153818.1(PEX10):c.874_875del (p.Leu292fs) rs61752093
NM_153818.1(PEX10):c.875del (p.Leu292fs) rs1553231783
NM_153818.1(PEX10):c.880A>G (p.Thr294Ala) rs34154371
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.903G>A (p.Arg301=) rs35082957
NM_153818.1(PEX10):c.915_917dup (p.Thr306dup) rs1553231765
NM_153818.1(PEX10):c.928C>G (p.His310Asp) rs61752094
NM_153818.1(PEX10):c.936_938CTG[1] (p.Cys313del) rs1438047457
NM_153818.1(PEX10):c.956C>T (p.Ala319Val) rs78620392
NM_153818.1(PEX10):c.972+1G>A rs1553231739
NM_153818.1(PEX10):c.972+1G>C rs1553231739
NM_153818.1(PEX10):c.973-2A>C rs758250423
NM_153818.1(PEX10):c.973-4G>A rs11586985
NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) rs724160001
PEX1, 1-BP DEL, 2916A
PEX10, 2-BP DEL, 814CT
PEX10, DEL/INS/FS, NT13
PEX12, 1-BP INS, 744T
PEX12, 4-BP DEL, 684TAGT
PEX12, 4-BP INS, 733GCCT
PEX13, 14-BP DEL, EXON 2
PEX13, 147-KB DEL
PEX14, 41-KB DEL
PEX16, IVSDS10, T-C, +2
PEX19, 1-BP DEL, 320A
PEX19, 1-BP INS, 764A
PEX3, 1-BP INS, 543T
PEX3, IVS10AS, T-G, -8
PEX6, 1-BP DEL, 1301C
PEX6, 1-BP INS, NT511
PEX6, 20-BP DEL/1-BP INS
PEX6, IVS3DS, G-A, +1
PEX6, IVS7, G-A, +1
PEX6, IVSAS, G-A, -1, 8-BP DEL

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