NM_002617.4(PEX10):c.-52_-51del
|
rs570192538
|
0.00605
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_144709.4(PUS10):c.-16+316G>A
|
rs571713221
|
0.00193
|
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)
|
rs139054881
|
0.00188
|
NM_003630.2(PEX3):c.-247T>C
|
rs138955442
|
0.00187
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_000466.3(PEX1):c.*292G>A
|
rs138531138
|
0.00159
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
NM_000466.3(PEX1):c.-43T>G
|
rs572810743
|
0.00058
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_004813.2(PEX16):c.-184A>G
|
rs745333570
|
0.00051
|
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=)
|
rs144401814
|
0.00048
|
NM_001127649.3(PEX26):c.*2807_*2808del
|
rs754613851
|
0.00046
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
NM_000466.3(PEX1):c.2584-9del
|
rs886062504
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_001351132.2(PEX5):c.*446_*452dup
|
rs771366153
|
0.00032
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_004813.2(PEX16):c.-164G>T
|
rs773746164
|
0.00028
|
NM_000287.3(PEX6):c.-79C>T
|
rs186587060
|
0.00024
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)
|
rs539784253
|
0.00018
|
NM_000466.3(PEX1):c.-19A>G
|
rs368326503
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_002857.4(PEX19):c.*77del
|
rs771535781
|
0.00015
|
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val)
|
rs781277635
|
0.00014
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
NM_000466.3(PEX1):c.2954G>A (p.Arg985His)
|
rs202057449
|
0.00011
|
NM_000466.3(PEX1):c.3637-14T>C
|
rs745612436
|
0.00008
|
NM_000466.3(PEX1):c.*428A>G
|
rs769772779
|
0.00007
|
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val)
|
rs561561515
|
0.00007
|
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala)
|
rs371309198
|
0.00006
|
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg)
|
rs201016626
|
0.00006
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
NM_000466.3(PEX1):c.2927-12T>A
|
rs375062546
|
0.00006
|
NM_004813.4(PEX16):c.*341C>T
|
rs559300237
|
0.00006
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
NM_000287.3(PEX6):c.-39G>A
|
rs76974379
|
0.00004
|
NM_000287.4(PEX6):c.690G>A (p.Glu230=)
|
rs368341252
|
0.00004
|
NM_000318.2(PEX2):c.-367A>G
|
rs886063144
|
0.00004
|
NM_000466.3(PEX1):c.*133G>C
|
rs886062500
|
0.00004
|
NM_000466.3(PEX1):c.*234T>C
|
rs1004289500
|
0.00004
|
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn)
|
rs754893068
|
0.00004
|
NM_001127649.3(PEX26):c.*912C>T
|
rs79240512
|
0.00004
|
NM_000286.3(PEX12):c.349A>G (p.Ile117Val)
|
rs767207001
|
0.00003
|
NM_000287.3(PEX6):c.-62C>A
|
rs886061413
|
0.00003
|
NM_000318.3(PEX2):c.*2920_*2922del
|
rs746335104
|
0.00003
|
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala)
|
rs775544654
|
0.00003
|
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=)
|
rs776231556
|
0.00003
|
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile)
|
rs749324355
|
0.00003
|
NM_001351132.2(PEX5):c.551+15C>T
|
rs886049825
|
0.00003
|
NM_000466.3(PEX1):c.*180A>G
|
rs996832628
|
0.00002
|
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val)
|
rs150351763
|
0.00002
|
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys)
|
rs983157165
|
0.00002
|
NM_000286.3(PEX12):c.*335T>C
|
rs886052830
|
0.00001
|
NM_000287.3(PEX6):c.-71C>G
|
rs886061414
|
0.00001
|
NM_000287.4(PEX6):c.2877A>G (p.Gln959=)
|
rs562040179
|
0.00001
|
NM_000466.3(PEX1):c.*236C>A
|
rs1403267319
|
0.00001
|
NM_000466.3(PEX1):c.-45T>C
|
rs886062509
|
0.00001
|
NM_000466.3(PEX1):c.-77C>G
|
rs1301449696
|
0.00001
|
NM_000466.3(PEX1):c.1671-13A>G
|
rs757960956
|
0.00001
|
NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala)
|
rs1251466114
|
0.00001
|
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala)
|
rs886062505
|
0.00001
|
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile)
|
rs750911436
|
0.00001
|
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp)
|
rs780992963
|
0.00001
|
NM_000466.3(PEX1):c.2927-8T>C
|
rs778618662
|
0.00001
|
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)
|
rs768417678
|
0.00001
|
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=)
|
rs374673391
|
0.00001
|
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=)
|
rs777384403
|
0.00001
|
NM_000466.3(PEX1):c.724G>A (p.Val242Ile)
|
rs764044654
|
0.00001
|
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg)
|
rs886062506
|
0.00001
|
NM_002857.4(PEX19):c.*469C>T
|
rs886045446
|
0.00001
|
NM_000286.3(PEX12):c.*767CTAAT[1]
|
rs886052825
|
|
NM_000318.2(PEX2):c.-273G>A
|
rs367767138
|
|
NM_000318.2(PEX2):c.-278C>G
|
rs886063142
|
|
NM_000318.2(PEX2):c.-335C>T
|
rs886063143
|
|
NM_000318.2(PEX2):c.-369C>T
|
rs886063145
|
|
NM_000318.3(PEX2):c.*1466ATT[1]
|
rs552746754
|
|
NM_000318.3(PEX2):c.*277_*279del
|
rs886063138
|
|
NM_000318.3(PEX2):c.-13del
|
rs146402705
|
|
NM_000466.3(PEX1):c.*241T>C
|
rs886062499
|
|
NM_000466.3(PEX1):c.-74A>G
|
rs886062510
|
|
NM_000466.3(PEX1):c.-82C>G
|
rs1169565016
|
|
NM_000466.3(PEX1):c.129+10C>T
|
rs886062508
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser)
|
rs200991412
|
|
NM_000466.3(PEX1):c.1804-12A>G
|
rs143041528
|
|
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs)
|
rs1562857333
|
|
NM_000466.3(PEX1):c.1901-14T>C
|
rs1792111444
|
|
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro)
|
rs767182250
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2912T>C (p.Val971Ala)
|
rs745667444
|
|
NM_000466.3(PEX1):c.2995C>A (p.Leu999Ile)
|
rs1791529840
|
|
NM_000466.3(PEX1):c.3030+12A>G
|
rs1163936793
|
|
NM_000466.3(PEX1):c.3161C>T (p.Ala1054Val)
|
rs886062503
|
|
NM_000466.3(PEX1):c.3503A>C (p.Asp1168Ala)
|
rs182452430
|
|
NM_000466.3(PEX1):c.3546A>G (p.Gln1182=)
|
rs886062502
|
|
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)
|
rs886062501
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly)
|
rs886062507
|
|
NM_000466.3(PEX1):c.96G>A (p.Pro32=)
|
rs1445565547
|
|
NM_001127649.3(PEX26):c.*1623GTTT[7]
|
rs375436648
|
|
NM_001127649.3(PEX26):c.*2070del
|
rs886057256
|
|
NM_001127649.3(PEX26):c.*2799dup
|
rs751296123
|
|
NM_001127649.3(PEX26):c.*609GA[3]
|
rs886057249
|
|
NM_001351132.2(PEX5):c.*991_*992dup
|
rs886049833
|
|
NM_001351132.2(PEX5):c.-17+21_-17+22insCCG
|
rs886049824
|
|
NM_001351132.2(PEX5):c.-17+22_-17+40delinsCC
|
rs775869915
|
|
NM_001351132.2(PEX5):c.1647C>G (p.Leu549=)
|
rs753512677
|
|
NM_002617.4(PEX10):c.*744dup
|
rs886046139
|
|
NM_002618.4(PEX13):c.*1875_*1876del
|
rs886056205
|
|
NM_002618.4(PEX13):c.*2989_*2990del
|
rs886056210
|
|
NM_002618.4(PEX13):c.*3044del
|
rs886056212
|
|
NM_002618.4(PEX13):c.*442dup
|
rs201619544
|
|
NM_002857.4(PEX19):c.*2417CT[2]
|
rs143491060
|
|
NM_002857.4(PEX19):c.630A>C (p.Leu210=)
|
rs202174805
|
|
NM_003630.3(PEX3):c.*307TA[7]
|
rs1326299129
|
|
NM_003630.3(PEX3):c.*321_*322del
|
rs771525459
|
|
NM_003630.3(PEX3):c.-150CT[3]
|
rs886061131
|
|
NM_003630.3(PEX3):c.-175dup
|
rs886061130
|
|
NM_004565.3(PEX14):c.*174C>T
|
rs886045018
|
|
NM_004565.3(PEX14):c.*755del
|
rs548721184
|
|
NM_004813.2(PEX16):c.-265C>T
|
rs886048330
|
|
NM_004813.2(PEX16):c.-290C>G
|
rs886048331
|
|
NM_004813.2(PEX16):c.-305C>T
|
rs886048332
|
|
NM_004813.2(PEX16):c.-67C>A
|
rs886048329
|
|
NM_004813.4(PEX16):c.628C>T (p.Pro210Ser)
|
rs754114296
|
|