NM_001127649.3(PEX26):c.*1627G>T
|
rs1056492732
|
0.01991
|
NM_002617.4(PEX10):c.-52_-51del
|
rs570192538
|
0.00605
|
NM_003630.3(PEX3):c.*958T>C
|
rs41285019
|
0.00578
|
NM_001351132.2(PEX5):c.*81A>C
|
rs183460108
|
0.00529
|
NM_003630.3(PEX3):c.*220G>A
|
rs117247312
|
0.00495
|
NM_004565.3(PEX14):c.795A>G (p.Ser265=)
|
rs41274484
|
0.00451
|
NM_002617.4(PEX10):c.*686C>G
|
rs41310349
|
0.00448
|
NM_002618.4(PEX13):c.*2356T>C
|
rs139999174
|
0.00416
|
NM_000318.3(PEX2):c.*1174A>G
|
rs562263817
|
0.00343
|
NM_001127649.3(PEX26):c.*954T>C
|
rs188986907
|
0.00307
|
NM_000318.3(PEX2):c.*1012C>T
|
rs181539288
|
0.00300
|
NM_002618.4(PEX13):c.*956G>T
|
rs141215166
|
0.00300
|
NM_002618.4(PEX13):c.*383A>T
|
rs149099359
|
0.00290
|
NM_001127649.3(PEX26):c.*828C>T
|
rs551641353
|
0.00287
|
NM_000318.3(PEX2):c.*2894T>C
|
rs569387185
|
0.00257
|
NM_004565.3(PEX14):c.170-13C>T
|
rs182967518
|
0.00222
|
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=)
|
rs150761638
|
0.00221
|
NM_003630.3(PEX3):c.-96G>T
|
rs375554173
|
0.00220
|
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_001351132.2(PEX5):c.604G>C (p.Val202Leu)
|
rs149102738
|
0.00209
|
NM_002857.4(PEX19):c.261C>T (p.Phe87=)
|
rs146644725
|
0.00206
|
NM_144709.4(PUS10):c.-16+316G>A
|
rs571713221
|
0.00193
|
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp)
|
rs149348130
|
0.00192
|
NM_001351132.2(PEX5):c.-16-274G>A
|
rs542096066
|
0.00191
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His)
|
rs45567240
|
0.00190
|
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_002618.4(PEX13):c.*3106T>C
|
rs148515938
|
0.00183
|
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
|
rs147707348
|
0.00181
|
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)
|
rs138731505
|
0.00180
|
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser)
|
rs201884779
|
0.00179
|
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu)
|
rs142648687
|
0.00179
|
NM_004565.3(PEX14):c.825G>A (p.Ser275=)
|
rs143412169
|
0.00179
|
NM_002617.4(PEX10):c.*643C>T
|
rs150136015
|
0.00177
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
NM_001127649.3(PEX26):c.*1156T>C
|
rs565644082
|
0.00171
|
NM_001127649.3(PEX26):c.*1194G>A
|
rs118188952
|
0.00171
|
NM_004565.3(PEX14):c.*576A>G
|
rs530124005
|
0.00170
|
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_001351132.2(PEX5):c.*179A>G
|
rs192786621
|
0.00155
|
NM_000318.3(PEX2):c.*659C>G
|
rs551943990
|
0.00148
|
NM_001127649.3(PEX26):c.*1720G>A
|
rs749348676
|
0.00134
|
NM_001351132.2(PEX5):c.*452G>C
|
rs185474091
|
0.00134
|
NM_002857.4(PEX19):c.*864C>T
|
rs144938105
|
0.00132
|
NM_003630.3(PEX3):c.*321A>T
|
rs1030569248
|
0.00132
|
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile)
|
rs140769712
|
0.00122
|
NM_001127649.3(PEX26):c.911G>A (p.Arg304His)
|
rs17851387
|
0.00121
|
NM_002618.4(PEX13):c.893T>C (p.Met298Thr)
|
rs138545154
|
0.00110
|
NM_002857.4(PEX19):c.181-5C>T
|
rs199818690
|
0.00109
|
NM_002618.4(PEX13):c.*357T>C
|
rs138236564
|
0.00108
|
NM_000318.3(PEX2):c.*1716A>G
|
rs192555214
|
0.00107
|
NM_004565.3(PEX14):c.36+8G>A
|
rs200154696
|
0.00107
|
NM_000318.3(PEX2):c.-183G>T
|
rs568404564
|
0.00106
|
NM_002617.4(PEX10):c.601-27A>G
|
rs144264865
|
0.00103
|
NM_002618.4(PEX13):c.*1961T>C
|
rs771587917
|
0.00102
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
NM_001127649.3(PEX26):c.*113G>A
|
rs199653646
|
0.00101
|
NM_003630.3(PEX3):c.578+8A>G
|
rs200807211
|
0.00101
|
NM_001127649.3(PEX26):c.*133C>T
|
rs200243782
|
0.00099
|
NM_002617.4(PEX10):c.*410G>A
|
rs886046144
|
0.00099
|
NM_002857.4(PEX19):c.459G>A (p.Leu153=)
|
rs78340311
|
0.00098
|
NM_001127649.3(PEX26):c.*439C>G
|
rs148217514
|
0.00096
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)
|
rs145845197
|
0.00093
|
NM_003630.3(PEX3):c.165A>G (p.Gln55=)
|
rs41285015
|
0.00090
|
NM_001131025.1(PEX5):c.*1251G>A
|
rs538222740
|
0.00086
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_002857.4(PEX19):c.*1069G>A
|
rs542626903
|
0.00084
|
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val)
|
rs149153003
|
0.00083
|
NM_001131025.1(PEX5):c.*1259G>C
|
rs148385560
|
0.00080
|
NM_001127649.3(PEX26):c.*1922C>T
|
rs181819830
|
0.00078
|
NM_001127649.3(PEX26):c.*2195A>G
|
rs565621911
|
0.00074
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)
|
rs61753220
|
0.00067
|
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)
|
rs142780305
|
0.00067
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
NM_001351132.2(PEX5):c.-53T>C
|
rs770339670
|
0.00065
|
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys)
|
rs138232280
|
0.00063
|
NM_002618.4(PEX13):c.*216T>C
|
rs146980377
|
0.00063
|
NM_000466.3(PEX1):c.-43T>G
|
rs572810743
|
0.00058
|
NM_001127649.3(PEX26):c.*2449C>T
|
rs140919342
|
0.00058
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
NM_003630.3(PEX3):c.*129C>T
|
rs41285017
|
0.00058
|
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg)
|
rs145867351
|
0.00057
|
NM_000286.3(PEX12):c.-427G>A
|
rs531286605
|
0.00056
|
NM_001351132.2(PEX5):c.*110G>A
|
rs775495288
|
0.00056
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_004813.4(PEX16):c.*175C>A
|
rs375099703
|
0.00055
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
NM_002617.4(PEX10):c.*854G>A
|
rs556816263
|
0.00053
|
NM_002857.4(PEX19):c.-4C>T
|
rs201541204
|
0.00053
|
NM_000318.3(PEX2):c.*2057G>A
|
rs568202276
|
0.00052
|
NM_002617.4(PEX10):c.*10C>T
|
rs367845280
|
0.00052
|
NM_004813.2(PEX16):c.-184A>G
|
rs745333570
|
0.00051
|
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=)
|
rs144401814
|
0.00048
|
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn)
|
rs146567534
|
0.00047
|
NM_002618.4(PEX13):c.*1649C>T
|
rs1042646135
|
0.00047
|
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)
|
rs140963177
|
0.00046
|
NM_001127649.3(PEX26):c.*2807_*2808del
|
rs754613851
|
0.00046
|
NM_001127649.3(PEX26):c.*2810G>C
|
rs781588186
|
0.00046
|
NM_001127649.3(PEX26):c.667+8A>G
|
rs200880379
|
0.00046
|
NM_002618.4(PEX13):c.*1998T>C
|
rs559684247
|
0.00046
|
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)
|
rs76530653
|
0.00045
|
NM_001351132.2(PEX5):c.552-7G>A
|
rs189631769
|
0.00044
|
NM_002857.4(PEX19):c.*1335G>T
|
rs748536788
|
0.00044
|
NM_000318.3(PEX2):c.322G>C (p.Val108Leu)
|
rs148101729
|
0.00043
|
NM_002617.4(PEX10):c.627G>A (p.Glu209=)
|
rs141430704
|
0.00043
|
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr)
|
rs145568490
|
0.00043
|
NM_000287.4(PEX6):c.1234-11A>G
|
rs201879957
|
0.00041
|
NM_001351132.2(PEX5):c.*1134T>A
|
rs769928491
|
0.00041
|
NM_002617.4(PEX10):c.816G>T (p.Leu272=)
|
rs144440263
|
0.00040
|
NM_002618.4(PEX13):c.*263A>T
|
rs558525565
|
0.00040
|
NM_001127649.3(PEX26):c.*1509C>G
|
rs571401889
|
0.00039
|
NM_001351132.2(PEX5):c.754-4G>A
|
rs111286659
|
0.00039
|
NM_002618.4(PEX13):c.*1416G>T
|
rs573040186
|
0.00039
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
NM_000287.4(PEX6):c.*343G>C
|
rs117055658
|
0.00037
|
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu)
|
rs200026148
|
0.00037
|
NM_001351132.2(PEX5):c.*137C>T
|
rs773375737
|
0.00036
|
NM_002857.4(PEX19):c.402T>C (p.Ser134=)
|
rs139828188
|
0.00036
|
NM_004813.4(PEX16):c.695-6C>T
|
rs372182266
|
0.00036
|
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=)
|
rs151312595
|
0.00035
|
NM_001351132.2(PEX5):c.371C>G (p.Ala124Gly)
|
rs143307183
|
0.00035
|
NM_002618.4(PEX13):c.*1377G>A
|
rs536283006
|
0.00035
|
NM_000286.3(PEX12):c.-495C>T
|
rs577172680
|
0.00034
|
NM_000466.3(PEX1):c.2584-9del
|
rs886062504
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_002618.4(PEX13):c.*446A>G
|
rs554737021
|
0.00034
|
NM_004813.4(PEX16):c.*107C>T
|
rs201513691
|
0.00034
|
NM_000288.4(PEX7):c.94C>T (p.Leu32=)
|
rs886061118
|
0.00032
|
NM_001127649.3(PEX26):c.*2386C>G
|
rs148534099
|
0.00032
|
NM_001351132.2(PEX5):c.*446_*452dup
|
rs771366153
|
0.00032
|
NM_002857.4(PEX19):c.*2717A>G
|
rs574056299
|
0.00032
|
NM_000318.3(PEX2):c.*1858G>A
|
rs777834563
|
0.00031
|
NM_001127649.3(PEX26):c.*578A>G
|
rs150745941
|
0.00031
|
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser)
|
rs138621982
|
0.00030
|
NM_002618.4(PEX13):c.*803A>G
|
rs561112537
|
0.00030
|
NM_002618.4(PEX13):c.*90A>G
|
rs535967834
|
0.00030
|
NM_000286.3(PEX12):c.*380G>C
|
rs762716335
|
0.00029
|
NM_000287.4(PEX6):c.25C>T (p.Leu9=)
|
rs183449855
|
0.00029
|
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)
|
rs533766104
|
0.00029
|
NM_000318.3(PEX2):c.*1749A>T
|
rs556984036
|
0.00029
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
NM_001127649.3(PEX26):c.*977C>T
|
rs181706274
|
0.00029
|
NM_001351132.2(PEX5):c.590C>T (p.Thr197Met)
|
rs144897942
|
0.00029
|
NM_002617.4(PEX10):c.316C>T (p.Leu106=)
|
rs140340426
|
0.00029
|
NM_002618.4(PEX13):c.*962G>A
|
rs931059778
|
0.00029
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_003630.3(PEX3):c.*677C>T
|
rs886061136
|
0.00028
|
NM_004813.2(PEX16):c.-164G>T
|
rs773746164
|
0.00028
|
NM_000318.3(PEX2):c.447T>G (p.Gly149=)
|
rs375401977
|
0.00027
|
NM_001127649.3(PEX26):c.*2339G>A
|
rs772852627
|
0.00027
|
NM_004813.4(PEX16):c.*70C>G
|
rs530762140
|
0.00027
|
NM_001127649.3(PEX26):c.198C>T (p.Ala66=)
|
rs374290931
|
0.00026
|
NM_001127649.3(PEX26):c.207C>T (p.Ala69=)
|
rs375516973
|
0.00026
|
NM_001351132.2(PEX5):c.*627C>T
|
rs146897980
|
0.00026
|
NM_002617.4(PEX10):c.*420G>A
|
rs868844283
|
0.00025
|
NM_000287.3(PEX6):c.-79C>T
|
rs186587060
|
0.00024
|
NM_004813.4(PEX16):c.1002T>C (p.Ser334=)
|
rs144897515
|
0.00024
|
NM_002617.4(PEX10):c.*401A>C
|
rs866387988
|
0.00023
|
NM_002618.4(PEX13):c.*2495A>T
|
rs777198802
|
0.00023
|
NM_003630.3(PEX3):c.*287A>G
|
rs779692327
|
0.00023
|
NM_000286.3(PEX12):c.*923G>A
|
rs576761038
|
0.00022
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
NM_001127649.3(PEX26):c.*280G>A
|
rs188897908
|
0.00021
|
NM_001351132.2(PEX5):c.*322C>T
|
rs764082627
|
0.00021
|
NM_002617.4(PEX10):c.*310G>A
|
rs539850807
|
0.00021
|
NM_002617.4(PEX10):c.776+8C>T
|
rs370594705
|
0.00021
|
NM_002857.4(PEX19):c.*2224G>T
|
rs573966291
|
0.00021
|
NM_002857.4(PEX19):c.*2536A>G
|
rs141829599
|
0.00021
|
NM_004565.3(PEX14):c.360A>G (p.Ala120=)
|
rs148479162
|
0.00021
|
NM_000286.3(PEX12):c.84T>C (p.Ser28=)
|
rs200641558
|
0.00020
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_001351132.2(PEX5):c.*495G>A
|
rs776371289
|
0.00019
|
NM_000286.3(PEX12):c.-434A>C
|
rs771210303
|
0.00018
|
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)
|
rs539784253
|
0.00018
|
NM_002857.4(PEX19):c.*1980T>C
|
rs372976790
|
0.00018
|
NM_002857.4(PEX19):c.*2413C>T
|
rs183164292
|
0.00018
|
NM_002618.4(PEX13):c.*3126A>G
|
rs745626475
|
0.00017
|
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)
|
rs201699810
|
0.00017
|
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)
|
rs142899308
|
0.00016
|
NM_000318.3(PEX2):c.*1400A>G
|
rs1002618013
|
0.00016
|
NM_000318.3(PEX2):c.*2518C>T
|
rs886063124
|
0.00016
|
NM_000466.3(PEX1):c.-19A>G
|
rs368326503
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_001127649.3(PEX26):c.*1152G>C
|
rs886057252
|
0.00016
|
NM_001127649.3(PEX26):c.-381C>T
|
rs561094254
|
0.00016
|
NM_002618.4(PEX13):c.*2159T>C
|
rs886056206
|
0.00016
|
NM_004813.4(PEX16):c.726G>A (p.Ser242=)
|
rs200414298
|
0.00016
|
NM_001127649.3(PEX26):c.*36G>A
|
rs202010734
|
0.00015
|
NM_002857.4(PEX19):c.*77del
|
rs771535781
|
0.00015
|
NM_000318.3(PEX2):c.*1854A>C
|
rs886063127
|
0.00014
|
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val)
|
rs781277635
|
0.00014
|
NM_001351132.2(PEX5):c.-17+71G>A
|
rs927673107
|
0.00014
|
NM_002617.4(PEX10):c.275G>A (p.Arg92His)
|
rs375649043
|
0.00014
|
NM_002618.4(PEX13):c.*813G>C
|
rs781689721
|
0.00014
|
NM_002857.4(PEX19):c.*854G>A
|
rs747191827
|
0.00014
|
NM_000318.3(PEX2):c.*595C>T
|
rs754113775
|
0.00013
|
NM_001127649.3(PEX26):c.*1684T>C
|
rs886057255
|
0.00013
|
NM_001351132.2(PEX5):c.*132C>G
|
rs753013794
|
0.00013
|
NM_001351132.2(PEX5):c.*296C>T
|
rs758323453
|
0.00013
|
NM_001351132.2(PEX5):c.*891A>G
|
rs371691416
|
0.00013
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
NM_004565.3(PEX14):c.381C>T (p.Tyr127=)
|
rs372630614
|
0.00013
|
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys)
|
rs544053792
|
0.00013
|
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp)
|
rs368752843
|
0.00012
|
NM_000318.3(PEX2):c.*2519G>A
|
rs1005895700
|
0.00012
|
NM_000318.3(PEX2):c.*596G>A
|
rs139852334
|
0.00012
|
NM_001127649.3(PEX26):c.*2308A>T
|
rs775281083
|
0.00012
|
NM_002618.4(PEX13):c.*1174A>T
|
rs182453488
|
0.00012
|
NM_002618.4(PEX13):c.*1376C>T
|
rs927046080
|
0.00012
|
NM_004565.3(PEX14):c.*369A>G
|
rs977546775
|
0.00012
|
NM_000286.3(PEX12):c.-138T>C
|
rs543169335
|
0.00011
|
NM_000286.3(PEX12):c.1002G>A (p.Arg334=)
|
rs200283718
|
0.00011
|
NM_000286.3(PEX12):c.793T>C (p.Tyr265His)
|
rs142726996
|
0.00011
|
NM_000318.3(PEX2):c.*40G>A
|
rs148915806
|
0.00011
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
NM_000466.3(PEX1):c.2954G>A (p.Arg985His)
|
rs202057449
|
0.00011
|
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp)
|
rs150451390
|
0.00011
|
NM_001351132.2(PEX5):c.1522G>A (p.Val508Met)
|
rs138028549
|
0.00011
|
NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu)
|
rs751043763
|
0.00011
|
NM_002617.4(PEX10):c.268C>T (p.Leu90=)
|
rs775772867
|
0.00011
|
NM_002617.4(PEX10):c.915G>A (p.Ala305=)
|
rs374891812
|
0.00011
|
NM_002618.4(PEX13):c.*2296G>A
|
rs886056208
|
0.00011
|
NM_002857.4(PEX19):c.*1013G>A
|
rs747057473
|
0.00011
|
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu)
|
rs79954820
|
0.00011
|
NM_144709.4(PUS10):c.-16+255C>T
|
rs200847026
|
0.00011
|
NM_000286.3(PEX12):c.-147C>T
|
rs559905700
|
0.00010
|
NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu)
|
rs368118099
|
0.00010
|
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=)
|
rs200215904
|
0.00010
|
NM_002617.4(PEX10):c.*835C>T
|
rs886046136
|
0.00010
|
NM_003630.3(PEX3):c.*1332A>G
|
rs886061138
|
0.00010
|
NM_003630.3(PEX3):c.249A>G (p.Gln83=)
|
rs139760270
|
0.00010
|
NM_004813.4(PEX16):c.*557G>C
|
rs770223341
|
0.00010
|
NM_000318.3(PEX2):c.*1755A>G
|
rs886063129
|
0.00009
|
NM_000318.3(PEX2):c.*2973T>C
|
rs751974703
|
0.00009
|
NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys)
|
rs759334733
|
0.00009
|
NM_001351132.2(PEX5):c.1875G>A (p.Ala625=)
|
rs371233272
|
0.00009
|
NM_002617.4(PEX10):c.760G>A (p.Gly254Ser)
|
rs761942658
|
0.00009
|
NM_002618.4(PEX13):c.*1005C>A
|
rs375607663
|
0.00009
|
NM_002618.4(PEX13):c.*2229C>T
|
rs1048932355
|
0.00009
|
NM_002618.4(PEX13):c.*851A>G
|
rs917019488
|
0.00009
|
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro)
|
rs202077756
|
0.00009
|
NM_004565.3(PEX14):c.488-14C>T
|
rs200684088
|
0.00009
|
NM_004565.3(PEX14):c.766G>A (p.Val256Met)
|
rs143378690
|
0.00009
|
NM_004813.4(PEX16):c.946G>A (p.Val316Ile)
|
rs775371916
|
0.00009
|
NM_000286.3(PEX12):c.*38C>T
|
rs756694664
|
0.00008
|
NM_000318.3(PEX2):c.*627G>T
|
rs145960090
|
0.00008
|
NM_000466.3(PEX1):c.3637-14T>C
|
rs745612436
|
0.00008
|
NM_002857.4(PEX19):c.*1145C>T
|
rs75916849
|
0.00008
|
NM_002857.4(PEX19):c.*1163T>C
|
rs575199724
|
0.00008
|
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)
|
rs193253559
|
0.00007
|
NM_000318.3(PEX2):c.769A>G (p.Ile257Val)
|
rs199874465
|
0.00007
|
NM_000466.3(PEX1):c.*428A>G
|
rs769772779
|
0.00007
|
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val)
|
rs561561515
|
0.00007
|
NM_002617.4(PEX10):c.*732G>A
|
rs886046140
|
0.00007
|
NM_002857.4(PEX19):c.*1745T>C
|
rs186821837
|
0.00007
|
NM_002857.4(PEX19):c.*1852C>G
|
rs370387085
|
0.00007
|
NM_003630.3(PEX3):c.*424T>C
|
rs189379544
|
0.00007
|
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg)
|
rs199781957
|
0.00007
|
NM_004813.4(PEX16):c.360-7G>A
|
rs202161790
|
0.00007
|
NM_000286.3(PEX12):c.*519A>G
|
rs886052827
|
0.00006
|
NM_000286.3(PEX12):c.*569T>A
|
rs541598688
|
0.00006
|
NM_000286.3(PEX12):c.-108A>G
|
rs886052831
|
0.00006
|
NM_000286.3(PEX12):c.-358G>T
|
rs565433352
|
0.00006
|
NM_000318.3(PEX2):c.*1370A>G
|
rs886063131
|
0.00006
|
NM_000318.3(PEX2):c.*1561G>A
|
rs886063130
|
0.00006
|
NM_000318.3(PEX2):c.*489C>T
|
rs886063136
|
0.00006
|
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_001127649.3(PEX26):c.*122A>C
|
rs753279674
|
0.00006
|
NM_001127649.3(PEX26):c.*2479G>A
|
rs537299090
|
0.00006
|
NM_001127649.3(PEX26):c.29C>T (p.Ala10Val)
|
rs768425084
|
0.00006
|
NM_001351132.2(PEX5):c.*722G>A
|
rs886049831
|
0.00006
|
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=)
|
rs370306007
|
0.00006
|
NM_001351132.2(PEX5):c.1873G>A (p.Ala625Thr)
|
rs143600154
|
0.00006
|
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala)
|
rs200475014
|
0.00006
|
NM_001351132.2(PEX5):c.966+3G>A
|
rs373763823
|
0.00006
|
NM_002617.4(PEX10):c.*594C>T
|
rs760677467
|
0.00006
|
NM_002617.4(PEX10):c.*627C>T
|
rs886046142
|
0.00006
|
NM_002617.4(PEX10):c.555C>T (p.His185=)
|
rs75377471
|
0.00006
|
NM_002617.4(PEX10):c.821C>T (p.Thr274Ile)
|
rs199683357
|
0.00006
|
NM_002857.4(PEX19):c.*1761C>A
|
rs761868324
|
0.00006
|
NM_002857.4(PEX19):c.*2068T>C
|
rs536872409
|
0.00006
|
NM_002857.4(PEX19):c.*427A>G
|
rs886045447
|
0.00006
|
NM_002857.4(PEX19):c.347-7C>T
|
rs753523567
|
0.00006
|
NM_004565.3(PEX14):c.26A>T (p.Gln9Leu)
|
rs201979629
|
0.00006
|
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala)
|
rs199525137
|
0.00006
|
NM_004565.3(PEX14):c.911A>T (p.Asp304Val)
|
rs199860518
|
0.00006
|
NM_004813.4(PEX16):c.*341C>T
|
rs559300237
|
0.00006
|
NM_004813.4(PEX16):c.*53C>G
|
rs369974509
|
0.00006
|
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala)
|
rs182308788
|
0.00005
|
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln)
|
rs79351868
|
0.00005
|
NM_000318.3(PEX2):c.*705T>A
|
rs569163196
|
0.00005
|
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_001127649.3(PEX26):c.*1618G>C
|
rs1358815707
|
0.00005
|
NM_001351132.2(PEX5):c.967-15G>A
|
rs201341037
|
0.00005
|
NM_002617.4(PEX10):c.711C>T (p.Tyr237=)
|
rs761005209
|
0.00005
|
NM_002618.4(PEX13):c.*170C>G
|
rs77041272
|
0.00005
|
NM_002857.4(PEX19):c.*1103C>T
|
rs561417695
|
0.00005
|
NM_000286.3(PEX12):c.*708G>A
|
rs762099095
|
0.00004
|
NM_000286.3(PEX12):c.*922T>C
|
rs886052823
|
0.00004
|
NM_000287.3(PEX6):c.-39G>A
|
rs76974379
|
0.00004
|
NM_000287.4(PEX6):c.2642G>A (p.Arg881His)
|
rs751377690
|
0.00004
|
NM_000287.4(PEX6):c.2736G>A (p.Ala912=)
|
rs202049230
|
0.00004
|
NM_000287.4(PEX6):c.690G>A (p.Glu230=)
|
rs368341252
|
0.00004
|
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp)
|
rs150358700
|
0.00004
|
NM_000287.4(PEX6):c.939T>C (p.Pro313=)
|
rs151234121
|
0.00004
|
NM_000288.4(PEX7):c.804-5C>T
|
rs369653173
|
0.00004
|
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys)
|
rs201106072
|
0.00004
|
NM_000318.2(PEX2):c.-367A>G
|
rs886063144
|
0.00004
|
NM_000318.3(PEX2):c.*1331T>C
|
rs950900674
|
0.00004
|
NM_000318.3(PEX2):c.*1602A>G
|
rs557330187
|
0.00004
|
NM_000318.3(PEX2):c.*1808C>A
|
rs980881594
|
0.00004
|
NM_000318.3(PEX2):c.*2294C>G
|
rs763651452
|
0.00004
|
NM_000318.3(PEX2):c.*394T>C
|
rs1010520129
|
0.00004
|
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg)
|
rs138590115
|
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.*1171G>A
|
rs184116244
|
0.00004
|
NM_001127649.3(PEX26):c.*2369C>G
|
rs971100485
|
0.00004
|
NM_001127649.3(PEX26):c.*912C>T
|
rs79240512
|
0.00004
|
NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu)
|
rs200279475
|
0.00004
|
NM_001351132.2(PEX5):c.-16-149A>G
|
rs1355750608
|
0.00004
|
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys)
|
rs199822160
|
0.00004
|
NM_002617.4(PEX10):c.*499G>A
|
rs886046143
|
0.00004
|
NM_002617.4(PEX10):c.271C>T (p.Arg91Cys)
|
rs747921371
|
0.00004
|
NM_002618.4(PEX13):c.*2550G>A
|
rs544817238
|
0.00004
|
NM_002618.4(PEX13):c.*3038A>T
|
rs886056211
|
0.00004
|
NM_002857.4(PEX19):c.*662C>T
|
rs773981843
|
0.00004
|
NM_003630.3(PEX3):c.*573A>G
|
rs886061135
|
0.00004
|
NM_003630.3(PEX3):c.-186C>T
|
rs993758988
|
0.00004
|
NM_003630.3(PEX3):c.332-9T>A
|
rs774963514
|
0.00004
|
NM_004565.3(PEX14):c.297C>T (p.Tyr99=)
|
rs371473184
|
0.00004
|
NM_004565.3(PEX14):c.860C>T (p.Thr287Met)
|
rs376758920
|
0.00004
|
NM_004813.4(PEX16):c.616C>G (p.Leu206Val)
|
rs375515674
|
0.00004
|
NM_000286.3(PEX12):c.*433T>C
|
rs886052829
|
0.00003
|
NM_000286.3(PEX12):c.-405C>G
|
rs886052834
|
0.00003
|
NM_000286.3(PEX12):c.349A>G (p.Ile117Val)
|
rs767207001
|
0.00003
|
NM_000287.3(PEX6):c.-62C>A
|
rs886061413
|
0.00003
|
NM_000287.4(PEX6):c.*168C>T
|
rs886061410
|
0.00003
|
NM_000287.4(PEX6):c.1234-10C>T
|
rs370661410
|
0.00003
|
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp)
|
rs772383329
|
0.00003
|
NM_000288.4(PEX7):c.*223T>A
|
rs774681133
|
0.00003
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
NM_000288.4(PEX7):c.903+8A>G
|
rs779919482
|
0.00003
|
NM_000318.3(PEX2):c.*1047T>A
|
rs886063133
|
0.00003
|
NM_000318.3(PEX2):c.*2920_*2922del
|
rs746335104
|
0.00003
|
NM_000318.3(PEX2):c.*437T>C
|
rs1210536989
|
0.00003
|
NM_000318.3(PEX2):c.151C>T (p.Arg51Cys)
|
rs147209403
|
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_001127649.3(PEX26):c.*2155A>G
|
rs773334209
|
0.00003
|
NM_001127649.3(PEX26):c.*662C>T
|
rs1197932567
|
0.00003
|
NM_001351132.2(PEX5):c.*1139T>C
|
rs886049836
|
0.00003
|
NM_001351132.2(PEX5):c.-17+185T>C
|
rs779168691
|
0.00003
|
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp)
|
rs148040746
|
0.00003
|
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile)
|
rs145886418
|
0.00003
|
NM_001351132.2(PEX5):c.317-6T>C
|
rs755945291
|
0.00003
|
NM_001351132.2(PEX5):c.551+15C>T
|
rs886049825
|
0.00003
|
NM_002617.4(PEX10):c.*16G>A
|
rs886046146
|
0.00003
|
NM_002617.4(PEX10):c.*304C>T
|
rs758081067
|
0.00003
|
NM_002617.4(PEX10):c.280G>A (p.Val94Met)
|
rs142626035
|
0.00003
|
NM_002617.4(PEX10):c.601-75G>A
|
rs369211467
|
0.00003
|
NM_002618.4(PEX13):c.*1283C>G
|
rs886056201
|
0.00003
|
NM_002618.4(PEX13):c.*1564C>G
|
rs886056203
|
0.00003
|
NM_002618.4(PEX13):c.*1566A>T
|
rs886056204
|
0.00003
|
NM_002618.4(PEX13):c.*2368T>C
|
rs1033146733
|
0.00003
|
NM_002618.4(PEX13):c.*2642T>C
|
rs886056209
|
0.00003
|
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe)
|
rs758388660
|
0.00003
|
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg)
|
rs752073595
|
0.00003
|
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys)
|
rs200928725
|
0.00003
|
NM_002857.4(PEX19):c.*1592G>A
|
rs779471097
|
0.00003
|
NM_002857.4(PEX19):c.*2555T>G
|
rs148123121
|
0.00003
|
NM_002857.4(PEX19):c.*896A>G
|
rs886045445
|
0.00003
|
NM_003630.3(PEX3):c.899G>A (p.Arg300Gln)
|
rs200463608
|
0.00003
|
NM_004565.3(PEX14):c.*564C>T
|
rs561807671
|
0.00003
|
NM_004565.3(PEX14):c.*7G>T
|
rs367982022
|
0.00003
|
NM_004565.3(PEX14):c.118C>T (p.Arg40Trp)
|
rs770183471
|
0.00003
|
NM_004565.3(PEX14):c.855C>G (p.Gly285=)
|
rs201107513
|
0.00003
|
NM_004565.3(PEX14):c.925G>T (p.Val309Leu)
|
rs764272265
|
0.00003
|
NM_004813.4(PEX16):c.*309G>C
|
rs886048325
|
0.00003
|
NM_017929.5(PEX26):c.-203G>A
|
rs544836312
|
0.00003
|
NM_000286.3(PEX12):c.*39G>A
|
rs751033919
|
0.00002
|
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_001127649.3(PEX26):c.*1631G>T
|
rs886057254
|
0.00002
|
NM_001127649.3(PEX26):c.*2651C>T
|
rs963146393
|
0.00002
|
NM_001127649.3(PEX26):c.*2768C>T
|
rs886057260
|
0.00002
|
NM_001127649.3(PEX26):c.*812C>T
|
rs886057250
|
0.00002
|
NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu)
|
rs777633990
|
0.00002
|
NM_001127649.3(PEX26):c.208G>T (p.Val70Leu)
|
rs766581207
|
0.00002
|
NM_001127649.3(PEX26):c.709C>T (p.Arg237Cys)
|
rs575612663
|
0.00002
|
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser)
|
rs749417845
|
0.00002
|
NM_001351132.2(PEX5):c.909T>C (p.Ala303=)
|
rs376649488
|
0.00002
|
NM_002617.4(PEX10):c.*905A>C
|
rs1316891759
|
0.00002
|
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser)
|
rs556603981
|
0.00002
|
NM_002618.4(PEX13):c.*1533G>C
|
rs886056202
|
0.00002
|
NM_002618.4(PEX13):c.*1925C>T
|
rs1050392536
|
0.00002
|
NM_002618.4(PEX13):c.*2422T>G
|
rs958254103
|
0.00002
|
NM_002618.4(PEX13):c.*3050C>T
|
rs1246216348
|
0.00002
|
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser)
|
rs367843599
|
0.00002
|
NM_002618.4(PEX13):c.931C>T (p.Arg311Cys)
|
rs376720470
|
0.00002
|
NM_002618.4(PEX13):c.932G>A (p.Arg311His)
|
rs147344836
|
0.00002
|
NM_002857.3(PEX19):c.-17A>C
|
rs748844578
|
0.00002
|
NM_002857.4(PEX19):c.*2383C>G
|
rs369641116
|
0.00002
|
NM_003630.3(PEX3):c.96T>C (p.Tyr32=)
|
rs201718910
|
0.00002
|
NM_004565.3(PEX14):c.1128G>C (p.Arg376=)
|
rs772300180
|
0.00002
|
NM_004813.4(PEX16):c.149-13C>G
|
rs369471815
|
0.00002
|
NM_004813.4(PEX16):c.609C>T (p.His203=)
|
rs537046144
|
0.00002
|
NM_004813.4(PEX16):c.694+11C>T
|
rs763840804
|
0.00002
|
NM_004813.4(PEX16):c.699C>T (p.Leu233=)
|
rs781411790
|
0.00002
|
NM_000286.3(PEX12):c.*109A>G
|
rs996017117
|
0.00001
|
NM_000286.3(PEX12):c.*335T>C
|
rs886052830
|
0.00001
|
NM_000286.3(PEX12):c.*411A>C
|
rs2072778672
|
0.00001
|
NM_000286.3(PEX12):c.*532A>G
|
rs886052826
|
0.00001
|
NM_000286.3(PEX12):c.856G>A (p.Val286Ile)
|
rs766182813
|
0.00001
|
NM_000287.3(PEX6):c.-71C>G
|
rs886061414
|
0.00001
|
NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr)
|
rs571650965
|
0.00001
|
NM_000287.4(PEX6):c.1130+2T>C
|
rs1416001981
|
0.00001
|
NM_000287.4(PEX6):c.1365A>G (p.Pro455=)
|
rs759402659
|
0.00001
|
NM_000287.4(PEX6):c.1367+10G>A
|
rs776610051
|
0.00001
|
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)
|
rs746117128
|
0.00001
|
NM_000287.4(PEX6):c.2547C>T (p.Asn849=)
|
rs1171568759
|
0.00001
|
NM_000287.4(PEX6):c.2877A>G (p.Gln959=)
|
rs562040179
|
0.00001
|
NM_000288.4(PEX7):c.-28G>A
|
rs376808803
|
0.00001
|
NM_000288.4(PEX7):c.496C>T (p.His166Tyr)
|
rs1219430310
|
0.00001
|
NM_000288.4(PEX7):c.554T>C (p.Val185Ala)
|
rs1424846175
|
0.00001
|
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys)
|
rs780186421
|
0.00001
|
NM_000288.4(PEX7):c.748-10T>C
|
rs886061122
|
0.00001
|
NM_000288.4(PEX7):c.843A>G (p.Thr281=)
|
rs767903764
|
0.00001
|
NM_000288.4(PEX7):c.961A>G (p.Ile321Val)
|
rs879706210
|
0.00001
|
NM_000318.3(PEX2):c.*1581T>A
|
rs1214852177
|
0.00001
|
NM_000318.3(PEX2):c.*2456C>T
|
rs1461205423
|
0.00001
|
NM_000318.3(PEX2):c.*2787G>A
|
rs886063123
|
0.00001
|
NM_000318.3(PEX2):c.*324G>T
|
rs886063137
|
0.00001
|
NM_000318.3(PEX2):c.*498G>A
|
rs541772029
|
0.00001
|
NM_000318.3(PEX2):c.*773T>G
|
rs927177664
|
0.00001
|
NM_000318.3(PEX2):c.*91A>G
|
rs886063139
|
0.00001
|
NM_000318.3(PEX2):c.-178C>T
|
rs886063141
|
0.00001
|
NM_000318.3(PEX2):c.456T>G (p.Ile152Met)
|
rs1475014070
|
0.00001
|
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)
|
rs770427885
|
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_001127649.3(PEX26):c.*1493C>G
|
rs1926993500
|
0.00001
|
NM_001127649.3(PEX26):c.*1928A>C
|
rs905337330
|
0.00001
|
NM_001127649.3(PEX26):c.*2285C>T
|
rs886057257
|
0.00001
|
NM_001127649.3(PEX26):c.*2370T>A
|
rs571008916
|
0.00001
|
NM_001127649.3(PEX26):c.*2604G>C
|
rs983170194
|
0.00001
|
NM_001127649.3(PEX26):c.*2724G>C
|
rs58564536
|
0.00001
|
NM_001127649.3(PEX26):c.554C>T (p.Ala185Val)
|
rs370147115
|
0.00001
|
NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys)
|
rs780701336
|
0.00001
|
NM_001351132.2(PEX5):c.*403C>T
|
rs886049828
|
0.00001
|
NM_001351132.2(PEX5):c.*506T>C
|
rs756345606
|
0.00001
|
NM_001351132.2(PEX5):c.*932A>T
|
rs1329909340
|
0.00001
|
NM_001351132.2(PEX5):c.-17+102G>C
|
rs747187521
|
0.00001
|
NM_001351132.2(PEX5):c.-17+240G>A
|
rs754651589
|
0.00001
|
NM_001351132.2(PEX5):c.-17+249C>T
|
rs939041822
|
0.00001
|
NM_001351132.2(PEX5):c.-17+65C>G
|
rs1437620977
|
0.00001
|
NM_001351132.2(PEX5):c.1111-12A>G
|
rs371599161
|
0.00001
|
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=)
|
rs778715159
|
0.00001
|
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=)
|
rs762815657
|
0.00001
|
NM_001351132.2(PEX5):c.1737T>C (p.Phe579=)
|
rs753159772
|
0.00001
|
NM_001374426.1(PEX10):c.-321+1018G>T
|
rs1257096968
|
0.00001
|
NM_002617.4(PEX10):c.*175T>C
|
rs1389854882
|
0.00001
|
NM_002617.4(PEX10):c.*445G>A
|
rs557941413
|
0.00001
|
NM_002617.4(PEX10):c.*824G>A
|
rs1288938989
|
0.00001
|
NM_002617.4(PEX10):c.*838C>T
|
rs886046135
|
0.00001
|
NM_002617.4(PEX10):c.112+11G>T
|
rs1322541651
|
0.00001
|
NM_002617.4(PEX10):c.194-5C>T
|
rs375032738
|
0.00001
|
NM_002617.4(PEX10):c.488C>T (p.Ala163Val)
|
rs750507518
|
0.00001
|
NM_002617.4(PEX10):c.601-18G>C
|
rs149822209
|
0.00001
|
NM_002617.4(PEX10):c.977G>A (p.Arg326His)
|
rs140890506
|
0.00001
|
NM_002618.4(PEX13):c.*2168A>T
|
rs886056207
|
0.00001
|
NM_002618.4(PEX13):c.*2234A>G
|
rs1358607905
|
0.00001
|
NM_002618.4(PEX13):c.*2581A>T
|
rs895620341
|
0.00001
|
NM_002618.4(PEX13):c.*2749C>G
|
rs888853893
|
0.00001
|
NM_002618.4(PEX13):c.*298G>C
|
rs886056199
|
0.00001
|
NM_002618.4(PEX13):c.*3216C>G
|
rs780132052
|
0.00001
|
NM_002618.4(PEX13):c.*895C>T
|
rs979509871
|
0.00001
|
NM_002618.4(PEX13):c.*953G>A
|
rs1339051481
|
0.00001
|
NM_002618.4(PEX13):c.1070A>G (p.Asn357Ser)
|
rs144300539
|
0.00001
|
NM_002618.4(PEX13):c.1158G>A (p.Lys386=)
|
rs371789976
|
0.00001
|
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln)
|
rs761487103
|
0.00001
|
NM_002857.4(PEX19):c.*1330G>A
|
rs886045442
|
0.00001
|
NM_002857.4(PEX19):c.*138C>T
|
rs770138698
|
0.00001
|
NM_002857.4(PEX19):c.*1450T>A
|
rs886045441
|
0.00001
|
NM_002857.4(PEX19):c.*2155C>T
|
rs886045439
|
0.00001
|
NM_002857.4(PEX19):c.*469C>T
|
rs886045446
|
0.00001
|
NM_002857.4(PEX19):c.*716C>A
|
rs1201331563
|
0.00001
|
NM_002857.4(PEX19):c.*741C>T
|
rs1288025465
|
0.00001
|
NM_002857.4(PEX19):c.*971G>A
|
rs543861713
|
0.00001
|
NM_002857.4(PEX19):c.432+2T>C
|
rs757078881
|
0.00001
|
NM_003630.3(PEX3):c.*978C>T
|
rs777447974
|
0.00001
|
NM_003630.3(PEX3):c.-175G>C
|
rs545482337
|
0.00001
|
NM_003630.3(PEX3):c.-214G>C
|
rs886061129
|
0.00001
|
NM_003630.3(PEX3):c.-231G>C
|
rs1037688328
|
0.00001
|
NM_003630.3(PEX3):c.51C>T (p.Ile17=)
|
rs367803197
|
0.00001
|
NM_003630.3(PEX3):c.810G>A (p.Met270Ile)
|
rs747026967
|
0.00001
|
NM_004565.3(PEX14):c.*256A>G
|
rs373498478
|
0.00001
|
NM_004565.3(PEX14):c.*459T>C
|
rs954625667
|
0.00001
|
NM_004565.3(PEX14):c.233C>T (p.Ser78Leu)
|
rs778315559
|
0.00001
|
NM_004565.3(PEX14):c.516C>T (p.Ser172=)
|
rs543843635
|
0.00001
|
NM_004565.3(PEX14):c.888G>T (p.Gln296His)
|
rs1358510161
|
0.00001
|
NM_004565.3(PEX14):c.912C>T (p.Asp304=)
|
rs1202283239
|
0.00001
|
NM_004813.4(PEX16):c.*277C>T
|
rs886048326
|
0.00001
|
NM_004813.4(PEX16):c.197G>A (p.Arg66Gln)
|
rs143737124
|
0.00001
|
NM_004813.4(PEX16):c.730A>C (p.Lys244Gln)
|
rs2086807349
|
0.00001
|
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln)
|
rs769838583
|
0.00001
|
NM_017929.5(PEX26):c.-167C>T
|
rs886057244
|
0.00001
|
NM_000286.3(PEX12):c.*474A>G
|
rs886052828
|
|
NM_000286.3(PEX12):c.*520A>G
|
rs1298505668
|
|
NM_000286.3(PEX12):c.*767CTAAT[1]
|
rs886052825
|
|
NM_000286.3(PEX12):c.*778G>A
|
rs886052824
|
|
NM_000286.3(PEX12):c.*783A>C
|
rs571975070
|
|
NM_000286.3(PEX12):c.-145C>T
|
rs886052832
|
|
NM_000286.3(PEX12):c.-340G>T
|
rs886052833
|
|
NM_000286.3(PEX12):c.-360G>A
|
rs2072800546
|
|
NM_000286.3(PEX12):c.353T>C (p.Met118Thr)
|
rs879075660
|
|
NM_000287.4(PEX6):c.*368G>A
|
rs866465109
|
|
NM_000287.4(PEX6):c.*407T>G
|
rs886061409
|
|
NM_000287.4(PEX6):c.106C>A (p.Leu36Met)
|
rs758416830
|
|
NM_000287.4(PEX6):c.1092A>G (p.Gln364=)
|
rs1241222298
|
|
NM_000287.4(PEX6):c.1110A>G (p.Gly370=)
|
rs886061411
|
|
NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu)
|
rs1769951744
|
|
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr)
|
rs61752141
|
|
NM_000287.4(PEX6):c.2471+5G>T
|
rs1213308057
|
|
NM_000287.4(PEX6):c.2601G>T (p.Leu867=)
|
rs1769712635
|
|
NM_000287.4(PEX6):c.2697A>G (p.Val899=)
|
rs892510772
|
|
NM_000287.4(PEX6):c.2907G>C (p.Arg969=)
|
rs145243129
|
|
NM_000287.4(PEX6):c.302C>G (p.Pro101Arg)
|
rs774813175
|
|
NM_000287.4(PEX6):c.410G>C (p.Arg137Pro)
|
rs1254025750
|
|
NM_000287.4(PEX6):c.49C>A (p.Pro17Thr)
|
rs918969564
|
|
NM_000287.4(PEX6):c.681G>A (p.Gln227=)
|
rs1770406319
|
|
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr)
|
rs886061412
|
|
NM_000287.4(PEX6):c.76G>C (p.Gly26Arg)
|
rs1268867658
|
|
NM_000288.4(PEX7):c.*124A>G
|
rs112796869
|
|
NM_000288.4(PEX7):c.*305C>A
|
rs567568009
|
|
NM_000288.4(PEX7):c.*305C>T
|
rs567568009
|
|
NM_000288.4(PEX7):c.*367T>C
|
rs886061124
|
|
NM_000288.4(PEX7):c.-18C>T
|
rs991168664
|
|
NM_000288.4(PEX7):c.-35G>A
|
rs886061116
|
|
NM_000288.4(PEX7):c.-3G>A
|
rs886061117
|
|
NM_000288.4(PEX7):c.-69C>A
|
rs528948146
|
|
NM_000288.4(PEX7):c.130+11G>T
|
rs886061119
|
|
NM_000288.4(PEX7):c.130+13C>A
|
rs886061120
|
|
NM_000288.4(PEX7):c.316G>C (p.Val106Leu)
|
rs886061121
|
|
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile)
|
rs1452611618
|
|
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.*1085T>A
|
rs886063132
|
|
NM_000318.3(PEX2):c.*1319A>T
|
rs912151931
|
|
NM_000318.3(PEX2):c.*1466ATT[1]
|
rs552746754
|
|
NM_000318.3(PEX2):c.*1606T>G
|
rs1276104967
|
|
NM_000318.3(PEX2):c.*1811C>T
|
rs886063128
|
|
NM_000318.3(PEX2):c.*2007A>T
|
rs558850392
|
|
NM_000318.3(PEX2):c.*2404A>G
|
rs1806798109
|
|
NM_000318.3(PEX2):c.*2430T>C
|
rs886063126
|
|
NM_000318.3(PEX2):c.*2466A>G
|
rs886063125
|
|
NM_000318.3(PEX2):c.*2700G>T
|
rs1806788065
|
|
NM_000318.3(PEX2):c.*277_*279del
|
rs886063138
|
|
NM_000318.3(PEX2):c.*37C>T
|
rs886063140
|
|
NM_000318.3(PEX2):c.*419T>G
|
rs1806878211
|
|
NM_000318.3(PEX2):c.*645G>T
|
rs1806867628
|
|
NM_000318.3(PEX2):c.*780T>A
|
rs1806859817
|
|
NM_000318.3(PEX2):c.*819A>C
|
rs886063135
|
|
NM_000318.3(PEX2):c.*913C>T
|
rs886063134
|
|
NM_000318.3(PEX2):c.-13del
|
rs146402705
|
|
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg)
|
rs1427212561
|
|
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu)
|
rs549242503
|
|
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.*112C>T
|
rs761715161
|
|
NM_001127649.3(PEX26):c.*1136G>A
|
rs886057251
|
|
NM_001127649.3(PEX26):c.*1488T>C
|
rs1926993079
|
|
NM_001127649.3(PEX26):c.*1623GTTT[7]
|
rs375436648
|
|
NM_001127649.3(PEX26):c.*1639G>T
|
rs12484897
|
|
NM_001127649.3(PEX26):c.*1957G>T
|
rs11913772
|
|
NM_001127649.3(PEX26):c.*2070del
|
rs886057256
|
|
NM_001127649.3(PEX26):c.*2282G>A
|
rs183054849
|
|
NM_001127649.3(PEX26):c.*2452G>C
|
rs886057258
|
|
NM_001127649.3(PEX26):c.*2523C>T
|
rs752154886
|
|
NM_001127649.3(PEX26):c.*2647G>A
|
rs886057259
|
|
NM_001127649.3(PEX26):c.*2799dup
|
rs751296123
|
|
NM_001127649.3(PEX26):c.*2904T>C
|
rs555003472
|
|
NM_001127649.3(PEX26):c.*533A>C
|
rs886057247
|
|
NM_001127649.3(PEX26):c.*568G>A
|
rs886057248
|
|
NM_001127649.3(PEX26):c.*609GA[3]
|
rs886057249
|
|
NM_001127649.3(PEX26):c.*802A>G
|
rs1046921426
|
|
NM_001127649.3(PEX26):c.*829A>T
|
rs362057
|
|
NM_001127649.3(PEX26):c.-375G>A
|
rs752393777
|
|
NM_001127649.3(PEX26):c.-80C>T
|
rs1926378615
|
|
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)
|
rs61752132
|
|
NM_001127649.3(PEX26):c.230+8C>T
|
rs886057245
|
|
NM_001127649.3(PEX26):c.625G>T (p.Glu209Ter)
|
rs886057246
|
|
NM_001127649.3(PEX26):c.814+15C>T
|
rs1926797835
|
|
NM_001351132.2(PEX5):c.*1080T>C
|
rs755972180
|
|
NM_001351132.2(PEX5):c.*1089T>C
|
rs886049834
|
|
NM_001351132.2(PEX5):c.*1134T>C
|
rs769928491
|
|
NM_001351132.2(PEX5):c.*171A>G
|
rs1945423860
|
|
NM_001351132.2(PEX5):c.*1C>T
|
rs886049827
|
|
NM_001351132.2(PEX5):c.*249C>G
|
rs1945433657
|
|
NM_001351132.2(PEX5):c.*61C>A
|
rs746752569
|
|
NM_001351132.2(PEX5):c.*677G>T
|
rs886049830
|
|
NM_001351132.2(PEX5):c.*766C>T
|
rs764837013
|
|
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.-17+40T>C
|
rs796452917
|
|
NM_001351132.2(PEX5):c.-49G>A
|
rs886049823
|
|
NM_001351132.2(PEX5):c.-49G>T
|
rs886049823
|
|
NM_001351132.2(PEX5):c.-55C>G
|
rs886049822
|
|
NM_001351132.2(PEX5):c.-69C>T
|
rs886049821
|
|
NM_001351132.2(PEX5):c.1395-14T>C
|
rs1945174737
|
|
NM_001351132.2(PEX5):c.1413G>C (p.Val471=)
|
rs115760878
|
|
NM_001351132.2(PEX5):c.1647C>G (p.Leu549=)
|
rs753512677
|
|
NM_001351132.2(PEX5):c.1850G>C (p.Ser617Thr)
|
rs751637149
|
|
NM_001351132.2(PEX5):c.48G>C (p.Pro16=)
|
rs147958315
|
|
NM_001351132.2(PEX5):c.498A>G (p.Gln166=)
|
rs756714515
|
|
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu)
|
rs749729761
|
|
NM_001351132.2(PEX5):c.643-5C>T
|
rs886049826
|
|
NM_001351132.2(PEX5):c.708C>T (p.Gly236=)
|
rs778009052
|
|
NM_001351132.2(PEX5):c.730G>T (p.Ala244Ser)
|
rs1944190059
|
|
NM_001351132.2(PEX5):c.88C>T (p.Leu30Phe)
|
rs1940821861
|
|
NM_002617.4(PEX10):c.*688G>T
|
rs886046141
|
|
NM_002617.4(PEX10):c.*744dup
|
rs886046139
|
|
NM_002617.4(PEX10):c.*782C>A
|
rs886046138
|
|
NM_002617.4(PEX10):c.*798C>T
|
rs886046137
|
|
NM_002617.4(PEX10):c.*91A>G
|
rs886046145
|
|
NM_002617.4(PEX10):c.*951G>C
|
rs1642943783
|
|
NM_002617.4(PEX10):c.-18C>T
|
rs1391106265
|
|
NM_002617.4(PEX10):c.-9C>T
|
rs1406863106
|
|
NM_002617.4(PEX10):c.443A>G (p.His148Arg)
|
rs1643086674
|
|
NM_002617.4(PEX10):c.521T>A (p.Leu174His)
|
rs1333143056
|
|
NM_002617.4(PEX10):c.551del (p.Ile184fs)
|
rs1557910202
|
|
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser)
|
rs149615608
|
|
NM_002617.4(PEX10):c.768T>A (p.Ser256=)
|
rs368439785
|
|
NM_002617.4(PEX10):c.899G>T (p.Trp300Leu)
|
rs1643006514
|
|
NM_002618.4(PEX13):c.*1480C>G
|
rs1680773967
|
|
NM_002618.4(PEX13):c.*1654T>G
|
rs1680777877
|
|
NM_002618.4(PEX13):c.*1875_*1876del
|
rs886056205
|
|
NM_002618.4(PEX13):c.*2111A>C
|
rs1680786136
|
|
NM_002618.4(PEX13):c.*2236A>C
|
rs146108177
|
|
NM_002618.4(PEX13):c.*233G>T
|
rs886056198
|
|
NM_002618.4(PEX13):c.*2537T>C
|
rs1680795269
|
|
NM_002618.4(PEX13):c.*2918A>G
|
rs1680801956
|
|
NM_002618.4(PEX13):c.*2989_*2990del
|
rs886056210
|
|
NM_002618.4(PEX13):c.*3044del
|
rs886056212
|
|
NM_002618.4(PEX13):c.*318G>C
|
rs1573562372
|
|
NM_002618.4(PEX13):c.*436T>C
|
rs1680757708
|
|
NM_002618.4(PEX13):c.*442dup
|
rs201619544
|
|
NM_002618.4(PEX13):c.*676A>G
|
rs886056200
|
|
NM_002618.4(PEX13):c.193A>G (p.Ser65Gly)
|
rs886056196
|
|
NM_002618.4(PEX13):c.26C>G (p.Pro9Arg)
|
rs764069625
|
|
NM_002618.4(PEX13):c.32C>A (p.Pro11His)
|
rs564528921
|
|
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu)
|
rs564528921
|
|
NM_002618.4(PEX13):c.417A>G (p.Ala139=)
|
rs886056197
|
|
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser)
|
rs771610641
|
|
NM_002618.4(PEX13):c.980C>T (p.Pro327Leu)
|
rs1680745521
|
|
NM_002857.4(PEX19):c.*1462C>G
|
rs1233628177
|
|
NM_002857.4(PEX19):c.*172G>C
|
rs886045449
|
|
NM_002857.4(PEX19):c.*1790A>G
|
rs886045440
|
|
NM_002857.4(PEX19):c.*2417CT[2]
|
rs143491060
|
|
NM_002857.4(PEX19):c.*361G>A
|
rs886045448
|
|
NM_002857.4(PEX19):c.*582G>A
|
rs1657648265
|
|
NM_002857.4(PEX19):c.*934A>G
|
rs886045444
|
|
NM_002857.4(PEX19):c.*998G>A
|
rs886045443
|
|
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser)
|
rs144256391
|
|
NM_002857.4(PEX19):c.149C>A (p.Pro50His)
|
rs11550117
|
|
NM_002857.4(PEX19):c.149C>T (p.Pro50Leu)
|
rs11550117
|
|
NM_002857.4(PEX19):c.181-4G>T
|
rs747572423
|
|
NM_002857.4(PEX19):c.630A>C (p.Leu210=)
|
rs202174805
|
|
NM_003630.3(PEX3):c.*1074A>G
|
rs553070296
|
|
NM_003630.3(PEX3):c.*1226A>T
|
rs999619029
|
|
NM_003630.3(PEX3):c.*1305C>T
|
rs886061137
|
|
NM_003630.3(PEX3):c.*307TA[7]
|
rs1326299129
|
|
NM_003630.3(PEX3):c.*321_*322del
|
rs771525459
|
|
NM_003630.3(PEX3):c.*377C>T
|
rs1584020851
|
|
NM_003630.3(PEX3):c.*708A>G
|
rs1780365449
|
|
NM_003630.3(PEX3):c.*742A>G
|
rs1780365756
|
|
NM_003630.3(PEX3):c.*793T>C
|
rs535466526
|
|
NM_003630.3(PEX3):c.*822A>G
|
rs1780366359
|
|
NM_003630.3(PEX3):c.*985T>G
|
rs1212183517
|
|
NM_003630.3(PEX3):c.-150CT[3]
|
rs886061131
|
|
NM_003630.3(PEX3):c.-175dup
|
rs886061130
|
|
NM_003630.3(PEX3):c.332G>T (p.Ser111Ile)
|
rs1780065436
|
|
NM_003630.3(PEX3):c.472C>G (p.Pro158Ala)
|
rs1780071841
|
|
NM_003630.3(PEX3):c.887C>T (p.Ala296Val)
|
rs886061132
|
|
NM_004565.3(PEX14):c.*174C>T
|
rs886045018
|
|
NM_004565.3(PEX14):c.*400G>T
|
rs886045019
|
|
NM_004565.3(PEX14):c.*515C>T
|
rs886045020
|
|
NM_004565.3(PEX14):c.*570C>T
|
rs1641898212
|
|
NM_004565.3(PEX14):c.*616C>T
|
rs541842608
|
|
NM_004565.3(PEX14):c.*685A>T
|
rs1156589089
|
|
NM_004565.3(PEX14):c.*755del
|
rs548721184
|
|
NM_004565.3(PEX14):c.626T>C (p.Ile209Thr)
|
rs758355392
|
|
NM_004565.3(PEX14):c.861G>T (p.Thr287=)
|
rs371329619
|
|
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser)
|
rs886045017
|
|
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.*324G>A
|
rs879320611
|
|
NM_004813.4(PEX16):c.*376G>A
|
rs143868125
|
|
NM_004813.4(PEX16):c.*491G>A
|
rs886048324
|
|
NM_004813.4(PEX16):c.-63G>C
|
rs532003586
|
|
NM_004813.4(PEX16):c.348C>T (p.Val116=)
|
rs886048328
|
|
NM_004813.4(PEX16):c.454C>A (p.Pro152Thr)
|
rs1357832796
|
|
NM_004813.4(PEX16):c.540C>G (p.Asn180Lys)
|
rs886048327
|
|
NM_004813.4(PEX16):c.628C>T (p.Pro210Ser)
|
rs754114296
|
|
NM_004813.4(PEX16):c.672C>T (p.Tyr224=)
|
rs746173483
|
|
NM_004813.4(PEX16):c.706G>C (p.Gly236Arg)
|
rs757071504
|
|
NM_004813.4(PEX16):c.861C>T (p.Arg287=)
|
rs747883612
|
|
NM_004813.4(PEX16):c.918G>C (p.Leu306=)
|
rs753109224
|
|
NM_017929.5(PEX26):c.-164G>T
|
rs1926353199
|
|
NM_017929.5(PEX26):c.-207T>C
|
rs905580400
|
|
NM_144709.4(PUS10):c.-16+260C>T
|
rs886056195
|
|