ClinVar Miner

List of variants reported as pathogenic for Zellweger spectrum disorders

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 802
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00008
NM_002617.4(PEX10):c.704dup (p.Leu236fs) rs61750435 0.00008
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123 0.00006
NM_000466.3(PEX1):c.2926+1G>A rs267608179 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter) rs781939614 0.00004
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00003
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter) rs61752105 0.00003
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter) rs781475201 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427 0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter) rs61752137 0.00003
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter) rs61752092 0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002857.4(PEX19):c.763dup (p.Met255fs) rs267608186 0.00003
NM_003846.3(PEX11B):c.766C>T (p.Arg256Ter) rs782188850 0.00003
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.130-1G>T rs1028247729 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_002617.4(PEX10):c.1A>G (p.Met1Val) rs886041314 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter) rs553968959 0.00002
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750 0.00001
NM_000286.3(PEX12):c.31del (p.Ala11fs) rs1290469936 0.00001
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter) rs1056238409 0.00001
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) rs888633730 0.00001
NM_000286.3(PEX12):c.680+1G>A rs904972651 0.00001
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108 0.00001
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1313dup (p.Glu439fs) rs770055192 0.00001
NM_000287.4(PEX6):c.1798C>T (p.Gln600Ter) rs1769875600 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.2205del (p.Arg736fs) rs1197432552 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229 0.00001
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val) rs764227040 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.510_511del (p.Asp172fs) rs61753211 0.00001
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212 0.00001
NM_000287.4(PEX6):c.611C>G (p.Ser204Ter) rs773056086 0.00001
NM_000288.4(PEX7):c.130+1G>A rs267608253 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345 0.00001
NM_000288.4(PEX7):c.804-2A>C rs774676095 0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter) rs1224562361 0.00001
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124 0.00001
NM_000466.3(PEX1):c.1126del (p.Glu376fs) rs751829426 0.00001
NM_000466.3(PEX1):c.1795G>T (p.Gly599Ter) rs1792222710 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501 0.00001
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.2926+2T>C rs267608180 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408 0.00001
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter) rs61752136 0.00001
NM_001127649.3(PEX26):c.667+2T>C rs267608191 0.00001
NM_001351132.2(PEX5):c.1255C>T (p.Gln419Ter) rs1300934931 0.00001
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter) rs777735499 0.00001
NM_001351132.2(PEX5):c.583C>T (p.Gln195Ter) rs890363450 0.00001
NM_001351132.2(PEX5):c.709C>T (p.Arg237Ter) rs777733574 0.00001
NM_002617.4(PEX10):c.211G>T (p.Glu71Ter) rs1291325133 0.00001
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) rs61750434 0.00001
NM_002618.4(PEX13):c.201dup (p.Val68fs) rs1288976071 0.00001
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter) rs369851185 0.00001
NM_002618.4(PEX13):c.46C>T (p.Arg16Ter) rs1178588746 0.00001
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter) rs1428782325 0.00001
NM_002857.4(PEX19):c.398dup (p.Ser134fs) rs1240816309 0.00001
NM_003630.3(PEX3):c.17G>A (p.Trp6Ter) rs1243154971 0.00001
NM_003630.3(PEX3):c.898C>T (p.Arg300Ter) rs201179294 0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689 0.00001
NM_003846.3(PEX11B):c.1A>G (p.Met1Val) rs782262926 0.00001
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter) rs781984979 0.00001
NM_003846.3(PEX11B):c.64C>T (p.Gln22Ter) rs397515419 0.00001
NM_004813.4(PEX16):c.451C>T (p.Gln151Ter) rs1218545995 0.00001
NM_004813.4(PEX16):c.526C>T (p.Arg176Ter) rs61752117 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NC_000001.10:g.(?_10535024)_(10535079_?)del
NC_000001.10:g.(?_10535024)_(10596374_?)del
NC_000001.10:g.(?_10535024)_(10687440_?)del
NC_000001.10:g.(?_2337195)_(2340307_?)del
NC_000001.10:g.(?_2339881)_(2340307_?)del
NC_000001.10:g.(?_2341800)_(2343951_?)del
NC_000001.10:g.(?_861322)_(3768971_?)del
NC_000001.11:g.(?_2405746)_(2412522_?)del
NC_000001.11:g.(?_2405756)_(2412512_?)del
NC_000002.12:g.60947640_61094952del
NC_000006.11:g.(?_137143759)_(137143943_?)del
NC_000006.11:g.(?_137143759)_(137166840_?)del
NC_000006.11:g.(?_137143759)_(137167329_?)del
NC_000006.11:g.(?_137166743)_(137167329_?)del
NC_000006.11:g.(?_137167201)_(137234674_?)del
NC_000006.11:g.(?_137187755)_(137193401_?)del
NC_000006.11:g.(?_41126341)_(43752536_?)del
NC_000006.11:g.(?_42941721)_(42942796_?)del
NC_000006.11:g.(?_42942593)_(42946888_?)del
NC_000006.12:g.(?_42968280)_(42979253_?)del
NC_000006.12:g.(?_42974865)_(42975048_?)del
NC_000006.12:g.42965156_42965157insTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAGCTTGTCAAATCTTT
NC_000007.13:g.(92123944_92126026)_(92126092_92129017)del
NC_000007.13:g.(?_92116761)_(92136450_?)del
NC_000007.13:g.(?_92135552)_(92140371_?)del
NC_000007.13:g.(?_92135668)_(92140738_?)del
NC_000007.13:g.(?_92143152)_(92143291_?)del
NC_000007.13:g.(?_92148299)_(92157759_?)del
NC_000007.14:g.(?_92489273)_(92491522_?)del
NC_000007.14:g.(?_92509319)_(92509421_?)del
NC_000007.14:g.92528411_92528711del rs2116299216
NC_000008.10:g.(?_77892493)_(77912525_?)del
NC_000008.10:g.(?_77895497)_(77896414_?)del
NC_000011.9:g.(?_45827353)_(46401497_?)del
NC_000017.11:g.35577561_35577592del rs2142231221
NC_000022.10:g.(?_18561143)_(18568044_?)del
NC_000022.10:g.(?_18561143)_(18613903_?)del
NG_008340.2:g.(25377_66267)_(66353_129292)del
NM_000286.3(PEX12):c.1039_1040del (p.Glu347fs) rs2142228734
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.116del (p.His39fs) rs2142231614
NM_000286.3(PEX12):c.122del (p.Val41fs)
NM_000286.3(PEX12):c.126+1G>A rs144259891
NM_000286.3(PEX12):c.126+1G>C
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
NM_000286.3(PEX12):c.151_154del (p.His51fs) rs2142231234
NM_000286.3(PEX12):c.174del (p.Trp58fs) rs2142231201
NM_000286.3(PEX12):c.20_21dup (p.Phe8fs)
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.3(PEX12):c.222dup (p.Leu75fs) rs2142231111
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
NM_000286.3(PEX12):c.260_261insAA (p.Tyr87Ter) rs61752099
NM_000286.3(PEX12):c.268_269del (p.Lys90fs)
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.286del (p.Asp96fs)
NM_000286.3(PEX12):c.305_306del (p.Arg102fs) rs2142230957
NM_000286.3(PEX12):c.308dup (p.Leu103fs) rs61752101
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.342G>A (p.Trp114Ter) rs2142230890
NM_000286.3(PEX12):c.348dup (p.Ile117fs)
NM_000286.3(PEX12):c.379A>T (p.Lys127Ter)
NM_000286.3(PEX12):c.455G>A (p.Trp152Ter)
NM_000286.3(PEX12):c.459del (p.Lys153fs)
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.471del (p.Ala158fs) rs2142230667
NM_000286.3(PEX12):c.4del (p.Ala2fs)
NM_000286.3(PEX12):c.511del (p.Glu171fs) rs945104524
NM_000286.3(PEX12):c.518G>A (p.Trp173Ter) rs923109489
NM_000286.3(PEX12):c.51_54del (p.Gln17fs) rs886041458
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.541dup (p.Tyr181fs)
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
NM_000286.3(PEX12):c.611_612del (p.Thr204fs)
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.62_63del (p.Ile20_Phe21insTer) rs2072797369
NM_000286.3(PEX12):c.644del (p.Pro215fs) rs1199283977
NM_000286.3(PEX12):c.669del (p.Gln223fs)
NM_000286.3(PEX12):c.680_680+12del
NM_000286.3(PEX12):c.680_680+1delinsCA rs2142230388
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter) rs104894616
NM_000286.3(PEX12):c.698dup (p.Asn233fs)
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.725del (p.Gly242fs)
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs) rs1057519507
NM_000286.3(PEX12):c.76C>T (p.Gln26Ter)
NM_000286.3(PEX12):c.771del (p.Leu258fs) rs1555549754
NM_000286.3(PEX12):c.775C>T (p.Gln259Ter)
NM_000286.3(PEX12):c.781del (p.Asp262fs) rs754193088
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.3(PEX12):c.795C>G (p.Tyr265Ter) rs1429126106
NM_000286.3(PEX12):c.808del (p.Gln270fs)
NM_000286.3(PEX12):c.816dup (p.Ile273fs)
NM_000286.3(PEX12):c.829_832del (p.Thr277fs)
NM_000286.3(PEX12):c.842del (p.Thr281fs) rs2072782816
NM_000286.3(PEX12):c.86del (p.Ser28_Leu29insTer)
NM_000286.3(PEX12):c.875_876del (p.Asn291_Ser292insTer)
NM_000286.3(PEX12):c.887del (p.Leu296fs)
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000286.3(PEX12):c.890T>G (p.Leu297Ter)
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000286.3(PEX12):c.895A>T (p.Lys299Ter) rs2142228982
NM_000286.3(PEX12):c.910_911del (p.Cys304fs) rs867245161
NM_000286.3(PEX12):c.920_921del (p.Cys307fs) rs2142228928
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.969_970del (p.Phe324fs) rs2072781707
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253
NM_000287.4(PEX6):c.1027del (p.Arg343fs) rs1388178333
NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)
NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter) rs267608212
NM_000287.4(PEX6):c.1072del (p.Cys358fs)
NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter) rs1478799269
NM_000287.4(PEX6):c.1098_1099del (p.Glu366fs) rs1189098622
NM_000287.4(PEX6):c.10_216delinsCCACCCGGGGGCCCGTGGCCGGCGGCGGAGCTGGGCCTGGTGCTGGCCCTGAGGC (p.Ala4fs) rs2150240574
NM_000287.4(PEX6):c.1109_1112del (p.Gly370fs) rs2150234919
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
NM_000287.4(PEX6):c.1138dup (p.Glu380fs) rs2114248372
NM_000287.4(PEX6):c.1149_1150insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGGAAATGTTTTTT (p.Lys384delinsPhePhePhePhePhePheXaaXaaXaaXaaProProProSerArgThrGlyArgLeuAlaArgArgGlyGlyGlyTer)
NM_000287.4(PEX6):c.1156A>T (p.Lys386Ter) rs2114248288
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter) rs886044436
NM_000287.4(PEX6):c.1216dup (p.His406fs) rs2114248084
NM_000287.4(PEX6):c.1263G>A (p.Trp421Ter)
NM_000287.4(PEX6):c.1276G>T (p.Glu426Ter)
NM_000287.4(PEX6):c.1301del (p.Ser434fs) rs62641231
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1326dup (p.Ser443fs) rs2114247458
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.1352del (p.Pro451fs)
NM_000287.4(PEX6):c.1357del (p.Leu453fs) rs2114247385
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1404del (p.Arg469fs) rs267608218
NM_000287.4(PEX6):c.1406_1474del (p.Arg469_Leu491del)
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala) rs1561823098
NM_000287.4(PEX6):c.1415del (p.Pro472fs) rs267608219
NM_000287.4(PEX6):c.1415dup (p.Gly473fs)
NM_000287.4(PEX6):c.1504G>T (p.Glu502Ter)
NM_000287.4(PEX6):c.1522del (p.Glu508fs) rs754684285
NM_000287.4(PEX6):c.1573dup (p.Val525fs) rs2114244815
NM_000287.4(PEX6):c.1586_1587dup (p.Ala530fs)
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro) rs387906809
NM_000287.4(PEX6):c.1681del (p.Leu561fs) rs1200299979
NM_000287.4(PEX6):c.1688+1G>A rs112298166
NM_000287.4(PEX6):c.1688+1G>T rs112298166
NM_000287.4(PEX6):c.1690_1693dup (p.Pro565fs) rs2114242907
NM_000287.4(PEX6):c.1691del (p.Cys564fs) rs2114242920
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1750C>T (p.Gln584Ter)
NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter) rs375288192
NM_000287.4(PEX6):c.1782_1807dup (p.Ser603fs) rs2114242538
NM_000287.4(PEX6):c.1790C>G (p.Ser597Ter)
NM_000287.4(PEX6):c.1805del (p.Leu602fs) rs2114242547
NM_000287.4(PEX6):c.1891del (p.Val631fs) rs2114241031
NM_000287.4(PEX6):c.1908T>A (p.Tyr636Ter)
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter) rs1769818844
NM_000287.4(PEX6):c.1A>G (p.Met1Val)
NM_000287.4(PEX6):c.1A>T (p.Met1Leu)
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
NM_000287.4(PEX6):c.2063del (p.Thr688fs)
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter) rs201306028
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2120dup (p.Gly709fs)
NM_000287.4(PEX6):c.212del (p.Pro71fs) rs2150240582
NM_000287.4(PEX6):c.217C>T (p.Gln73Ter)
NM_000287.4(PEX6):c.2244del (p.Gly749fs)
NM_000287.4(PEX6):c.2276_2277del (p.Thr759fs)
NM_000287.4(PEX6):c.2315del (p.Glu772fs)
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.237_238del (p.Leu80fs) rs1178535907
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.2410G>T (p.Glu804Ter)
NM_000287.4(PEX6):c.2434del (p.Arg812fs)
NM_000287.4(PEX6):c.2439del (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2470del (p.Arg824fs) rs2114238399
NM_000287.4(PEX6):c.2518C>T (p.Gln840Ter)
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
NM_000287.4(PEX6):c.2667-2A>C rs267608249
NM_000287.4(PEX6):c.2722C>T (p.Gln908Ter) rs2114236416
NM_000287.4(PEX6):c.2754_2758del (p.Cys918_Asp920delinsTer) rs2114236281
NM_000287.4(PEX6):c.286_289del (p.Ala96fs)
NM_000287.4(PEX6):c.2T>C (p.Met1Thr) rs1554128597
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)
NM_000287.4(PEX6):c.385_388del (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.392_395del (p.Leu131fs)
NM_000287.4(PEX6):c.402del (p.Gly135fs)
NM_000287.4(PEX6):c.427_485del (p.Pro143fs)
NM_000287.4(PEX6):c.503_504del (p.Pro168fs)
NM_000287.4(PEX6):c.506_507del (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.514del (p.Asp172fs)
NM_000287.4(PEX6):c.514dup (p.Asp172fs) rs2150239907
NM_000287.4(PEX6):c.530del (p.Pro177fs)
NM_000287.4(PEX6):c.531del (p.Pro179fs) rs2150239870
NM_000287.4(PEX6):c.573_882+237delinsTGGTCA
NM_000287.4(PEX6):c.621_882+2del rs1554128347
NM_000287.4(PEX6):c.630del (p.Cys211fs) rs2150239689
NM_000287.4(PEX6):c.655C>T (p.Gln219Ter)
NM_000287.4(PEX6):c.655del (p.Gln219fs)
NM_000287.4(PEX6):c.656del (p.Gln219fs) rs267608202
NM_000287.4(PEX6):c.668dup (p.Trp224fs)
NM_000287.4(PEX6):c.671G>A (p.Trp224Ter)
NM_000287.4(PEX6):c.689_690del (p.Glu230fs) rs398123305
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs) rs398123305
NM_000287.4(PEX6):c.692C>G (p.Ser231Ter)
NM_000287.4(PEX6):c.698del (p.Asn233fs)
NM_000287.4(PEX6):c.706C>T (p.Gln236Ter) rs779526175
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter) rs61753215
NM_000287.4(PEX6):c.738_741del (p.Glu246fs) rs2150239487
NM_000287.4(PEX6):c.740dup (p.Arg248fs)
NM_000287.4(PEX6):c.746G>A (p.Trp249Ter)
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter) rs1770400284
NM_000287.4(PEX6):c.755_756del (p.Leu251_Ser252insTer)
NM_000287.4(PEX6):c.802_815del (p.Asp268fs) rs63749004
NM_000287.4(PEX6):c.814_817dup (p.Val273fs) rs367543282
NM_000287.4(PEX6):c.831_834del (p.Leu277fs)
NM_000287.4(PEX6):c.856del (p.Leu286fs) rs267608205
NM_000287.4(PEX6):c.87G>A (p.Trp29Ter)
NM_000287.4(PEX6):c.882+1G>A rs267608207
NM_000287.4(PEX6):c.896del (p.Gly299fs)
NM_000287.4(PEX6):c.909del (p.Glu304fs)
NM_000287.4(PEX6):c.914_923del (p.Asp305fs) rs1364614470
NM_000287.4(PEX6):c.916_919del (p.Lys306fs) rs2150236148
NM_000287.4(PEX6):c.959_960del (p.Glu320fs)
NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)
NM_000287.4(PEX6):c.[*438TAAA[1];2578C>T]
NM_000288.4(PEX7):c.105_117del (p.Gln38fs)
NM_000288.4(PEX7):c.10del (p.Val4fs)
NM_000288.4(PEX7):c.111_112del (p.Gln38fs)
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter) rs1774102216
NM_000288.4(PEX7):c.12del (p.Cys5fs)
NM_000288.4(PEX7):c.130+2T>G rs2115122957
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.213del (p.Phe71fs) rs1190462422
NM_000288.4(PEX7):c.22_31del (p.Ala8fs)
NM_000288.4(PEX7):c.250dup (p.Ile84fs)
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.289_290del (p.Thr97fs)
NM_000288.4(PEX7):c.294_313dup (p.Gln105fs)
NM_000288.4(PEX7):c.31_56dup (p.Tyr20fs)
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) rs62653604
NM_000288.4(PEX7):c.364del (p.Thr122fs) rs2115170460
NM_000288.4(PEX7):c.370_396del (p.Gly124_Ser132del)
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter) rs2115170536
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.45_52del (p.Gly16fs)
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs) rs2115171634
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter) rs1173171051
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs) rs1774099032
NM_000288.4(PEX7):c.508del (p.Cys170fs) rs1057516827
NM_000288.4(PEX7):c.517del (p.Ser173fs) rs2115171791
NM_000288.4(PEX7):c.523_526dup (p.Gly176fs)
NM_000288.4(PEX7):c.52dup (p.His18fs)
NM_000288.4(PEX7):c.546_547del (p.Ile182fs) rs2115216632
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
NM_000288.4(PEX7):c.57_67dup (p.Glu23fs) rs2115122515
NM_000288.4(PEX7):c.652del (p.Ala218fs)
NM_000288.4(PEX7):c.683dup (p.Leu228fs)
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.751dup (p.Ser251fs)
NM_000288.4(PEX7):c.818C>G (p.Ser273Ter)
NM_000288.4(PEX7):c.858_867del (p.Glu287fs)
NM_000288.4(PEX7):c.860_861del (p.Glu287fs) rs2115273041
NM_000318.3(PEX2):c.10A>T (p.Arg4Ter) rs1297517393
NM_000318.3(PEX2):c.113del (p.Thr38fs)
NM_000318.3(PEX2):c.115C>T (p.Gln39Ter) rs61752118
NM_000318.3(PEX2):c.118del (p.Cys40fs)
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer) rs2132044757
NM_000318.3(PEX2):c.15dup (p.Glu6fs)
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) rs61752119
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
NM_000318.3(PEX2):c.218del (p.Asn73fs) rs1586070089
NM_000318.3(PEX2):c.220dup (p.Ala74fs) rs777974798
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter) rs1586070043
NM_000318.3(PEX2):c.24_25del (p.Lys9fs) rs2132045027
NM_000318.3(PEX2):c.272dup (p.Pro91_Asn92insTer)
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.285T>G (p.Tyr95Ter)
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter) rs2132044384
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
NM_000318.3(PEX2):c.318T>A (p.Tyr106Ter)
NM_000318.3(PEX2):c.320_326del (p.Ala107fs)
NM_000318.3(PEX2):c.325dup (p.Cys109fs) rs1052655986
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.34_37del (p.Asn12fs) rs1174648906
NM_000318.3(PEX2):c.354_355del (p.Arg119fs) rs1554584505
NM_000318.3(PEX2):c.369del (p.Leu123fs)
NM_000318.3(PEX2):c.386T>A (p.Leu129Ter) rs1224224276
NM_000318.3(PEX2):c.387_396dup (p.Gly133fs) rs2132044079
NM_000318.3(PEX2):c.39_40del (p.Arg13fs)
NM_000318.3(PEX2):c.414_426dup (p.Ile143fs)
NM_000318.3(PEX2):c.416_417del (p.Val139fs) rs2132044032
NM_000318.3(PEX2):c.455_456insG (p.Ile152fs) rs2132043966
NM_000318.3(PEX2):c.470del (p.Phe157fs)
NM_000318.3(PEX2):c.475C>T (p.Gln159Ter)
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter) rs1586069639
NM_000318.3(PEX2):c.502G>T (p.Glu168Ter)
NM_000318.3(PEX2):c.524del (p.Ser175fs) rs2132043781
NM_000318.3(PEX2):c.549_550del (p.Ile183fs) rs756891007
NM_000318.3(PEX2):c.550_551insC (p.Cys184fs) rs2132043724
NM_000318.3(PEX2):c.550del (p.Cys184fs) rs63545361
NM_000318.3(PEX2):c.571del (p.Tyr190_Met191insTer) rs2132043667
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
NM_000318.3(PEX2):c.618del (p.Leu207fs) rs2132043567
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter) rs61752127
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg) rs61752128
NM_000318.3(PEX2):c.77_79delinsTT (p.Asn26fs)
NM_000318.3(PEX2):c.79_80del (p.Lys27fs) rs1261498405
NM_000318.3(PEX2):c.865dup (p.Ser289fs) rs724160029
NM_000318.3(PEX2):c.91C>T (p.Gln31Ter) rs149287302
NM_000466.3(PEX1):c.1012_1016del (p.Leu338fs) rs2116243800
NM_000466.3(PEX1):c.1025del (p.Lys342fs)
NM_000466.3(PEX1):c.1027C>T (p.Gln343Ter)
NM_000466.3(PEX1):c.1048C>T (p.Gln350Ter)
NM_000466.3(PEX1):c.1076del (p.Lys359fs) rs1057517465
NM_000466.3(PEX1):c.1099del (p.Gln367fs) rs1403870448
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter) rs1585254187
NM_000466.3(PEX1):c.1164G>A (p.Trp388Ter)
NM_000466.3(PEX1):c.1171_1183del (p.Leu391fs)
NM_000466.3(PEX1):c.1208del (p.Asn403fs) rs1376037318
NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)
NM_000466.3(PEX1):c.1240_1359del (p.Ile414_Leu453del) rs2116220949
NM_000466.3(PEX1):c.130-2A>G rs1585260993
NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter) rs1467651370
NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter)
NM_000466.3(PEX1):c.1393_1394del (p.Val465fs) rs1164941642
NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter) rs758402265
NM_000466.3(PEX1):c.1422_1425del (p.Thr475fs)
NM_000466.3(PEX1):c.1456G>T (p.Glu486Ter) rs2116209376
NM_000466.3(PEX1):c.1483+1G>A rs1585244586
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1522dup (p.Glu508fs) rs1057517463
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
NM_000466.3(PEX1):c.1652dup (p.Leu551fs)
NM_000466.3(PEX1):c.1671_1672del
NM_000466.3(PEX1):c.1672G>T (p.Gly558Ter) rs2116181877
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1727dup (p.Arg577fs) rs1585238595
NM_000466.3(PEX1):c.1728del (p.Arg577fs)
NM_000466.3(PEX1):c.1742_1756del (p.Arg581_Ser585del)
NM_000466.3(PEX1):c.1792del (p.Thr598fs) rs886037783
NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter) rs1792186595
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) rs1554372561
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter)
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1891del (p.Ala631fs) rs2075434480
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.1897del (p.Arg633fs)
NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del) rs1554372074
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1916dup (p.Asn639fs) rs2116166262
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1927dup (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1955del (p.Val652fs) rs2116165935
NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter) rs2116165809
NM_000466.3(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.2001dup (p.Ala668fs)
NM_000466.3(PEX1):c.2034_2035del (p.His678fs) rs61750412
NM_000466.3(PEX1):c.2039del (p.Pro680fs) rs1269903353
NM_000466.3(PEX1):c.2050C>T (p.Gln684Ter)
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
NM_000466.3(PEX1):c.2083_2084del (p.Met695fs) rs2116156265
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) rs267608178
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter)
NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter) rs1792013985
NM_000466.3(PEX1):c.2164del (p.Val723fs) rs1792013807
NM_000466.3(PEX1):c.2175_2176del (p.Gln726fs)
NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter) rs786205655
NM_000466.3(PEX1):c.2234del (p.Arg745fs)
NM_000466.3(PEX1):c.2268dup (p.Leu757fs)
NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs) rs1791951634
NM_000466.3(PEX1):c.2361del (p.Val788fs)
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2396dup (p.Ser800fs) rs778871894
NM_000466.3(PEX1):c.2416+1G>A
NM_000466.3(PEX1):c.2420T>A (p.Leu807Ter)
NM_000466.3(PEX1):c.2464_2477dup (p.Leu826fs) rs1463323645
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) rs1232449804
NM_000466.3(PEX1):c.2480del (p.Arg827fs)
NM_000466.3(PEX1):c.249del (p.Lys83fs) rs1793076317
NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter) rs2116145324
NM_000466.3(PEX1):c.2550dup (p.Ile851fs) rs2116145117
NM_000466.3(PEX1):c.2582del (p.Lys861fs)
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2692_2693del (p.Glu897_Ser898insTer) rs2116132444
NM_000466.3(PEX1):c.269del (p.Gly90fs) rs1275822594
NM_000466.3(PEX1):c.2719-1G>T
NM_000466.3(PEX1):c.2738_2741dup (p.Tyr914Ter) rs2116110975
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2783+1del
NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer) rs1791555145
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2861_2862dup (p.Gly955fs)
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2915_2916dup (p.Gly973fs)
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2926+1del rs1791544171
NM_000466.3(PEX1):c.2977dup (p.Leu993fs) rs2116091859
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.3003dup (p.Cys1002fs) rs1562847911
NM_000466.3(PEX1):c.3005_3011dup (p.Tyr1004Ter) rs2116091512
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys) rs1791439311
NM_000466.3(PEX1):c.3068_3071del (p.Ser1023fs)
NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs) rs1312351030
NM_000466.3(PEX1):c.3094dup (p.Leu1032fs)
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3118_3121del (p.Asp1040fs)
NM_000466.3(PEX1):c.3152_3156del (p.Leu1051fs) rs2116077430
NM_000466.3(PEX1):c.3158dup (p.Asn1053fs) rs2116077400
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs) rs61750430
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter) rs1562846113
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
NM_000466.3(PEX1):c.3258del (p.Asn1088fs) rs2116059954
NM_000466.3(PEX1):c.3259_3260del (p.Phe1086_Leu1087insTer) rs2116059937
NM_000466.3(PEX1):c.3261_3262insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCTGGCGGTCGGGCGGCGGCGGCTGCCTCAATGGTCTTTCTT (p.Leu1087_Asn1088insPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaAlaLysThrGluThrAlaProLeuProAlaGluLeuHisProProGlyGlyArgAlaAlaAlaAlaAlaSerMetValPheLeu)
NM_000466.3(PEX1):c.3287C>G (p.Ser1096Ter)
NM_000466.3(PEX1):c.3301G>T (p.Glu1101Ter) rs2116059303
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652
NM_000466.3(PEX1):c.3400dup (p.Tyr1134fs)
NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter)
NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter) rs1459743428
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.34G>T (p.Gly12Ter) rs1793402720
NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)
NM_000466.3(PEX1):c.3505_3517del (p.Gln1169fs) rs727504076
NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)
NM_000466.3(PEX1):c.3568C>T (p.Gln1190Ter) rs1281995042
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.3579del (p.Asp1194fs) rs1554366802
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.3592del (p.Ala1198fs)
NM_000466.3(PEX1):c.3622del (p.Arg1208fs) rs1791174009
NM_000466.3(PEX1):c.3624del (p.Ser1209fs)
NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3767+2T>C
NM_000466.3(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000466.3(PEX1):c.43del (p.Ala15fs)
NM_000466.3(PEX1):c.46del (p.Ala16fs)
NM_000466.3(PEX1):c.538_541dup (p.Thr181fs) rs1792878019
NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)
NM_000466.3(PEX1):c.568del (p.Ser190fs)
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.56_57del (p.Val19fs)
NM_000466.3(PEX1):c.56_80del (p.Val19fs) rs1793398751
NM_000466.3(PEX1):c.607G>T (p.Gly203Ter) rs1472300213
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.651dup (p.Leu218fs)
NM_000466.3(PEX1):c.657_660del (p.Ser220fs) rs786205656
NM_000466.3(PEX1):c.786_787del (p.Glu262fs) rs2116245705
NM_000466.3(PEX1):c.788_789del (p.Thr263fs) rs61750404
NM_000466.3(PEX1):c.794G>A (p.Trp265Ter)
NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs) rs1792860966
NM_000466.3(PEX1):c.821_824del (p.Lys274fs)
NM_000466.3(PEX1):c.831_834del (p.Ser278fs) rs2116245323
NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)
NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)
NM_000466.3(PEX1):c.894del (p.Ile297_Tyr298insTer)
NM_000466.3(PEX1):c.8dup (p.Ser4fs)
NM_000466.3(PEX1):c.911_912del (p.Ser304fs) rs786204638
NM_000466.3(PEX1):c.912dup (p.Val305fs)
NM_000466.3(PEX1):c.951G>A (p.Trp317Ter)
NM_000466.3(PEX1):c.955C>T (p.Gln319Ter) rs2116244185
NM_000466.3(PEX1):c.995_996del (p.Tyr332fs)
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.154del (p.Arg52fs)
NM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs) rs1926403854
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter) rs1556586479
NM_001127649.3(PEX26):c.190_191del (p.Leu65fs)
NM_001127649.3(PEX26):c.192_216del (p.Ser64fs)
NM_001127649.3(PEX26):c.230+1G>A
NM_001127649.3(PEX26):c.230+1G>T rs267608190
NM_001127649.3(PEX26):c.254dup (p.Cys86fs) rs61752133
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)
NM_001127649.3(PEX26):c.28del (p.Ala10fs)
NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter) rs62641229
NM_001127649.3(PEX26):c.297G>A (p.Trp99Ter)
NM_001127649.3(PEX26):c.298C>T (p.Gln100Ter)
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_001127649.3(PEX26):c.329_330del (p.Tyr110fs)
NM_001127649.3(PEX26):c.344del (p.Lys115fs)
NM_001127649.3(PEX26):c.34del (p.Leu12fs) rs61752129
NM_001127649.3(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_001127649.3(PEX26):c.354del (p.Val120fs) rs1926487809
NM_001127649.3(PEX26):c.354dup (p.Lys119fs)
NM_001127649.3(PEX26):c.37_38del (p.Arg13fs)
NM_001127649.3(PEX26):c.396del (p.Glu133fs)
NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)
NM_001127649.3(PEX26):c.443del (p.Pro148fs)
NM_001127649.3(PEX26):c.468T>G (p.Tyr156Ter)
NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter) rs781370363
NM_001127649.3(PEX26):c.613del (p.Gln205fs) rs2123654642
NM_001127649.3(PEX26):c.725_726del (p.Ser242fs)
NM_001127649.3(PEX26):c.73_79del (p.Val25fs)
NM_001127649.3(PEX26):c.757A>T (p.Lys253Ter)
NM_001127649.3(PEX26):c.[34dup;669_814+1del]
NM_001351132.2(PEX5):c.119G>A (p.Trp40Ter) rs2135879026
NM_001351132.2(PEX5):c.1264dup (p.Ala422fs) rs1374334296
NM_001351132.2(PEX5):c.1279dup (p.Arg427fs)
NM_001351132.2(PEX5):c.1319_1320del (p.Val440fs)
NM_001351132.2(PEX5):c.1355_1356del (p.Leu452fs)
NM_001351132.2(PEX5):c.1368_1369insGG (p.Arg457fs)
NM_001351132.2(PEX5):c.1426del (p.Leu476fs)
NM_001351132.2(PEX5):c.1469_1470insAC (p.Gln491fs) rs2136243209
NM_001351132.2(PEX5):c.1512T>G (p.Tyr504Ter)
NM_001351132.2(PEX5):c.1521_1527del (p.Val508fs) rs1731078730
NM_001351132.2(PEX5):c.1574G>A (p.Trp525Ter) rs2136254746
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001351132.2(PEX5):c.1607del (p.Asn536fs)
NM_001351132.2(PEX5):c.30del (p.Glu10fs)
NM_001351132.2(PEX5):c.358C>T (p.Gln120Ter) rs1941140792
NM_001351132.2(PEX5):c.361G>T (p.Glu121Ter) rs1565673352
NM_001351132.2(PEX5):c.416_419del (p.Asp139fs)
NM_001351132.2(PEX5):c.472del (p.Arg158fs) rs2136074154
NM_001351132.2(PEX5):c.478del (p.Ala160fs)
NM_001351132.2(PEX5):c.500C>G (p.Ser167Ter)
NM_001351132.2(PEX5):c.531_534dup (p.Thr179fs) rs2136075415
NM_001351132.2(PEX5):c.54_69dup (p.Phe24fs)
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter) rs1419213790
NM_001351132.2(PEX5):c.555T>A (p.Tyr185Ter)
NM_001351132.2(PEX5):c.670G>T (p.Glu224Ter)
NM_001351132.2(PEX5):c.674_695dup (p.Ser235fs) rs2136151586
NM_001351132.2(PEX5):c.715C>T (p.Gln239Ter)
NM_001351132.2(PEX5):c.737_738del (p.Glu246fs)
NM_001351132.2(PEX5):c.740_743del (p.Phe247fs)
NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter)
NM_001351132.2(PEX5):c.808dup (p.Leu270fs) rs2136158689
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)
NM_001351132.2(PEX5):c.82_83insT (p.Lys28fs)
NM_001351132.2(PEX5):c.88del (p.Leu30fs)
NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs)
NM_002617.4(PEX10):c.120del (p.Lys41fs)
NM_002617.4(PEX10):c.134G>A (p.Trp45Ter)
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
NM_002617.4(PEX10):c.157_158del (p.Ser53fs) rs1384671249
NM_002617.4(PEX10):c.198C>G (p.Tyr66Ter)
NM_002617.4(PEX10):c.1A>C (p.Met1Leu)
NM_002617.4(PEX10):c.1A>T (p.Met1Leu) rs886041314
NM_002617.4(PEX10):c.211del (p.Glu71fs)
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter) rs531987102
NM_002617.4(PEX10):c.247del (p.Arg83fs)
NM_002617.4(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_002617.4(PEX10):c.26dup (p.Glu10fs) rs1553232917
NM_002617.4(PEX10):c.28dup (p.Glu10fs) rs1643275394
NM_002617.4(PEX10):c.291_292insTGCTGGTGACG (p.Leu98delinsCysTrpTer) rs1643093232
NM_002617.4(PEX10):c.295del (p.His99fs) rs1557910651
NM_002617.4(PEX10):c.2T>C (p.Met1Thr) rs724160002
NM_002617.4(PEX10):c.337del (p.Leu113fs) rs724159999
NM_002617.4(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_002617.4(PEX10):c.363del (p.Asp122fs)
NM_002617.4(PEX10):c.387del (p.Ser130fs) rs2100429148
NM_002617.4(PEX10):c.3G>A (p.Met1Ile)
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs) rs2100429011
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
NM_002617.4(PEX10):c.417_418del (p.Arg142fs)
NM_002617.4(PEX10):c.430_439del (p.Trp144fs) rs2100428812
NM_002617.4(PEX10):c.450del (p.Thr151fs)
NM_002617.4(PEX10):c.458_461del (p.Thr153fs)
NM_002617.4(PEX10):c.475del (p.Ala159fs) rs2100428583
NM_002617.4(PEX10):c.486_496del (p.Ala163fs) rs2100428385
NM_002617.4(PEX10):c.496del (p.Val166fs) rs770937339
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.504_507del (p.Gln169fs) rs2100428321
NM_002617.4(PEX10):c.506_507del (p.Gln169fs) rs1643083325
NM_002617.4(PEX10):c.509del (p.Gly170fs)
NM_002617.4(PEX10):c.52G>C (p.Asp18His) rs61750432
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
NM_002617.4(PEX10):c.551_555del (p.Ile184fs)
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.601-14del rs1643028060
NM_002617.4(PEX10):c.601-38_601-37del rs1553231896
NM_002617.4(PEX10):c.601-39del
NM_002617.4(PEX10):c.601-3C>T rs369643163
NM_002617.4(PEX10):c.601-3_601-2del rs1643027426
NM_002617.4(PEX10):c.601-4dup rs2100423250
NM_002617.4(PEX10):c.622G>T (p.Gly208Ter)
NM_002617.4(PEX10):c.637dup (p.Ala213fs)
NM_002617.4(PEX10):c.640del (p.Arg214fs)
NM_002617.4(PEX10):c.664del (p.Val222fs)
NM_002617.4(PEX10):c.664dup (p.Val222fs) rs1357189926
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer) rs768893724
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter) rs1295555837
NM_002617.4(PEX10):c.708_709dup (p.Tyr237fs)
NM_002617.4(PEX10):c.727C>T (p.Gln243Ter) rs2100422652
NM_002617.4(PEX10):c.735_738del (p.Lys247fs)
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
NM_002617.4(PEX10):c.747G>A (p.Trp249Ter) rs2100422532
NM_002617.4(PEX10):c.755_756del (p.His252fs) rs1325771720
NM_002617.4(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.4(PEX10):c.795_796del (p.Arg265fs) rs1553231787
NM_002617.4(PEX10):c.820_828del (p.Thr274_Cys276del)
NM_002617.4(PEX10):c.827G>C (p.Cys276Ser) rs1414973726
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.832dup (p.Glu278fs)
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002617.4(PEX10):c.858_870del (p.Pro287fs)
NM_002617.4(PEX10):c.868dup (p.His290fs)
NM_002617.4(PEX10):c.870C>G (p.His290Gln) rs61752095
NM_002617.4(PEX10):c.881G>A (p.Trp294Ter)
NM_002617.4(PEX10):c.887del (p.Cys296fs)
NM_002617.4(PEX10):c.899G>A (p.Trp300Ter)
NM_002617.4(PEX10):c.8del (p.Pro3fs)
NM_002617.4(PEX10):c.903del (p.Trp300_Cys301insTer)
NM_002617.4(PEX10):c.907_908insCTTA (p.Ser303delinsThrTer)
NM_002617.4(PEX10):c.912+1G>C rs1553231739
NM_002617.4:c.13_28delinsCCGCCAGCACCTGCGCCGCC
NM_002618.4(PEX13):c.107_120del (p.Gly36fs) rs2104803129
NM_002618.4(PEX13):c.145dup (p.Thr49fs)
NM_002618.4(PEX13):c.148del (p.Arg50fs)
NM_002618.4(PEX13):c.159_160del (p.Pro54fs) rs2104803205
NM_002618.4(PEX13):c.20dup (p.Pro8fs)
NM_002618.4(PEX13):c.27del (p.Lys10fs)
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter) rs2104803395
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)
NM_002618.4(PEX13):c.431del (p.Ser144fs)
NM_002618.4(PEX13):c.499del (p.His167fs) rs2104803491
NM_002618.4(PEX13):c.573_582del (p.Arg193fs)
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter) rs1559035738
NM_002618.4(PEX13):c.596T>G (p.Leu199Ter)
NM_002618.4(PEX13):c.633G>A (p.Trp211Ter)
NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter) rs104893661
NM_002618.4(PEX13):c.744C>G (p.Tyr248Ter)
NM_002618.4(PEX13):c.759_760del (p.Leu254fs)
NM_002618.4(PEX13):c.801G>A (p.Trp267Ter)
NM_002618.4(PEX13):c.829dup (p.Ala277fs) rs2104812709
NM_002618.4(PEX13):c.855del (p.Val286fs)
NM_002618.4(PEX13):c.871del (p.Ile291fs)
NM_002618.4(PEX13):c.937T>G (p.Trp313Gly) rs61752113
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) rs61752115
NM_002857.4(PEX19):c.161C>T (p.Ser54Leu) rs1657873534
NM_002857.4(PEX19):c.294del (p.Glu98fs) rs2101804576
NM_002857.4(PEX19):c.320del (p.Lys107fs) rs1571138735
NM_002857.4(PEX19):c.526C>T (p.Gln176Ter)
NM_002857.4(PEX19):c.577A>T (p.Lys193Ter)
NM_002857.4(PEX19):c.86del (p.Phe29fs)
NM_002857.4(PEX19):c.9del (p.Ala4fs)
NM_003630.3(PEX3):c.292_302del (p.Ser98fs) rs748689554
NM_003630.3(PEX3):c.543dup (p.Val182fs)
NM_003630.3(PEX3):c.942-8T>G rs267608193
NM_004565.3(PEX14):c.109C>T (p.Gln37Ter)
NM_004565.3(PEX14):c.553C>T (p.Gln185Ter) rs61752116
NM_004813.4(PEX16):c.115C>T (p.Arg39Ter) rs2134699162
NM_004813.4(PEX16):c.238C>T (p.Gln80Ter)
NM_004813.4(PEX16):c.311G>A (p.Trp104Ter)
NM_004813.4(PEX16):c.312G>A (p.Trp104Ter)
NM_004813.4(PEX16):c.446dup (p.Ala150fs) rs2134695309
NM_004813.4(PEX16):c.512C>A (p.Ser171Ter)
NM_004813.4(PEX16):c.535C>T (p.Gln179Ter)
NM_004813.4(PEX16):c.58del (p.Ala20fs)
NM_004813.4(PEX16):c.595C>T (p.Gln199Ter)
NM_004813.4(PEX16):c.65_71del (p.Thr22fs) rs2134699707
NM_004813.4(PEX16):c.714G>A (p.Trp238Ter)
NM_004813.4(PEX16):c.718C>T (p.Gln240Ter) rs2134692559
NM_004813.4(PEX16):c.729G>A (p.Trp243Ter)
NM_004813.4(PEX16):c.737G>A (p.Trp246Ter) rs2086807269
NM_004813.4(PEX16):c.817G>T (p.Glu273Ter)
NM_004813.4(PEX16):c.860G>A (p.Arg287His)
NM_004813.4(PEX16):c.952+118_*82del
NM_004813.4(PEX16):c.952+2T>C rs267608185
NM_004813.4(PEX16):c.984del (p.Ile330fs) rs1590793006
NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys) rs397514472

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