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
|
|