NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
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_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_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)
|
rs373118250
|
0.00005
|
NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)
|
rs61752103
|
0.00003
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00003
|
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)
|
rs61752092
|
0.00003
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
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.600+1G>A
|
rs267608183
|
0.00002
|
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.1231A>G (p.Met411Val)
|
rs752177240
|
0.00001
|
NM_000287.4(PEX6):c.1233+1G>A
|
rs763459576
|
0.00001
|
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)
|
rs267608240
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000287.4(PEX6):c.517del (p.Ser173fs)
|
rs61753212
|
0.00001
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
NM_000466.3(PEX1):c.2071+1G>T
|
rs267608177
|
0.00001
|
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
|
rs61750422
|
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_001127649.3(PEX26):c.574C>T (p.Arg192Ter)
|
rs61752136
|
0.00001
|
NM_001127649.3(PEX26):c.667+2T>C
|
rs267608191
|
0.00001
|
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
|
rs61750434
|
0.00001
|
NM_003630.3(PEX3):c.17G>A (p.Trp6Ter)
|
rs1243154971
|
0.00001
|
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)
|
rs769772100
|
0.00001
|
NC_000007.13:g.(92123944_92126026)_(92126092_92129017)del
|
|
|
NC_000008.10:g.(?_77892493)_(77912525_?)del
|
|
|
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
|
rs61752100
|
|
NM_000286.3(PEX12):c.445_454del (p.Ser149fs)
|
rs1567730901
|
|
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)
|
rs61752102
|
|
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)
|
rs61752106
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)
|
rs398123301
|
|
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)
|
rs28936697
|
|
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)
|
rs764657253
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala)
|
rs1561823098
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000287.4(PEX6):c.2364_2365del
|
rs755716911
|
|
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)
|
rs62653602
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
NM_000287.4(PEX6):c.802_815del (p.Asp268fs)
|
rs63749004
|
|
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys)
|
rs61752119
|
|
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)
|
rs61752122
|
|
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.352del (p.Glu118fs)
|
|
|
NM_000318.3(PEX2):c.77_79delinsTT (p.Asn26fs)
|
|
|
NM_000466.3(PEX1):c.1108dup (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.129+1G>A
|
rs2116298327
|
|
NM_000466.3(PEX1):c.130-2A>T
|
rs1585260993
|
|
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs)
|
rs1792596054
|
|
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
|
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
NM_000466.3(PEX1):c.1900+2T>C
|
rs1562857198
|
|
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
NM_000466.3(PEX1):c.249_250insT (p.Leu84fs)
|
rs1793076195
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs)
|
rs2116095487
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.2922del (p.Leu974fs)
|
rs762324548
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)
|
rs61750430
|
|
NM_000466.3(PEX1):c.3287C>G (p.Ser1096Ter)
|
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
NM_000466.3(PEX1):c.56_80del (p.Val19fs)
|
rs1793398751
|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
NM_000466.3(PEX1):c.788_789del (p.Thr263fs)
|
rs61750404
|
|
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)
|
rs1556586479
|
|
NM_001127649.3(PEX26):c.230+1G>T
|
rs267608190
|
|
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)
|
rs61752129
|
|
NM_001351132.2(PEX5):c.846+1G>A
|
|
|
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
|
|
|
NM_002617.4(PEX10):c.2T>C (p.Met1Thr)
|
rs724160002
|
|
NM_002617.4(PEX10):c.335_338del (p.Pro112fs)
|
rs2100429450
|
|
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)
|
rs369965266
|
|
NM_002617.4(PEX10):c.4del (p.Ala2fs)
|
rs62636524
|
|
NM_002617.4(PEX10):c.587del (p.Thr196fs)
|
|
|
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)
|
rs62641225
|
|
NM_002617.4(PEX10):c.868dup (p.His290fs)
|
|
|
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)
|
|
|
NM_002618.4(PEX13):c.573_582del (p.Arg193fs)
|
|
|
NM_003630.3(PEX3):c.331+1G>C
|
|
|
NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)
|
|
|
NM_003846.3(PEX11B):c.275del (p.Asn92fs)
|
|
|