NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)
|
rs138731505
|
0.00180
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
NM_000286.3(PEX12):c.-427G>A
|
rs531286605
|
0.00056
|
NM_000286.3(PEX12):c.-495C>T
|
rs577172680
|
0.00034
|
NM_000286.3(PEX12):c.*380G>C
|
rs762716335
|
0.00029
|
NM_000286.3(PEX12):c.*923G>A
|
rs576761038
|
0.00022
|
NM_000286.3(PEX12):c.84T>C (p.Ser28=)
|
rs200641558
|
0.00020
|
NM_000286.3(PEX12):c.-434A>C
|
rs771210303
|
0.00018
|
NM_000286.3(PEX12):c.931C>T (p.Arg311Trp)
|
rs373666248
|
0.00013
|
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_000286.3(PEX12):c.-147C>T
|
rs559905700
|
0.00010
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr)
|
rs200413804
|
0.00010
|
NM_000286.3(PEX12):c.306A>T (p.Arg102Ser)
|
rs563487343
|
0.00009
|
NM_000286.3(PEX12):c.*38C>T
|
rs756694664
|
0.00008
|
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)
|
rs193253559
|
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_000286.3(PEX12):c.745A>G (p.Thr249Ala)
|
rs371597789
|
0.00006
|
NM_000286.3(PEX12):c.763G>A (p.Val255Ile)
|
rs746089337
|
0.00006
|
NM_000286.3(PEX12):c.46G>A (p.Asp16Asn)
|
rs979319729
|
0.00005
|
NM_000286.3(PEX12):c.*708G>A
|
rs762099095
|
0.00004
|
NM_000286.3(PEX12):c.*922T>C
|
rs886052823
|
0.00004
|
NM_000286.3(PEX12):c.661A>G (p.Met221Val)
|
rs764839291
|
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.191C>T (p.Thr64Ile)
|
rs766393993
|
0.00003
|
NM_000286.3(PEX12):c.20A>G (p.His7Arg)
|
rs143621995
|
0.00003
|
NM_000286.3(PEX12):c.236G>C (p.Ser79Thr)
|
rs771507228
|
0.00003
|
NM_000286.3(PEX12):c.349A>G (p.Ile117Val)
|
rs767207001
|
0.00003
|
NM_000286.3(PEX12):c.907G>A (p.Val303Met)
|
rs777654572
|
0.00003
|
NM_000286.3(PEX12):c.*39G>A
|
rs751033919
|
0.00002
|
NM_000286.3(PEX12):c.101G>A (p.Arg34Lys)
|
rs770777877
|
0.00002
|
NM_000286.3(PEX12):c.166T>C (p.Trp56Arg)
|
rs758005394
|
0.00002
|
NM_000286.3(PEX12):c.245T>G (p.Phe82Cys)
|
rs140611267
|
0.00002
|
NM_000286.3(PEX12):c.294C>A (p.His98Gln)
|
rs767354075
|
0.00002
|
NM_000286.3(PEX12):c.335A>G (p.Gln112Arg)
|
rs376279395
|
0.00002
|
NM_000286.3(PEX12):c.352A>G (p.Met118Val)
|
rs773708442
|
0.00002
|
NM_000286.3(PEX12):c.655A>G (p.Ser219Gly)
|
rs773891359
|
0.00002
|
NM_000286.3(PEX12):c.724G>A (p.Gly242Ser)
|
rs765982515
|
0.00002
|
NM_000286.3(PEX12):c.758T>C (p.Val253Ala)
|
rs773962549
|
0.00002
|
NM_000286.3(PEX12):c.903G>C (p.Lys301Asn)
|
rs145574816
|
0.00002
|
NM_000286.3(PEX12):c.905C>T (p.Thr302Ile)
|
rs373860467
|
0.00002
|
NM_000286.3(PEX12):c.932G>A (p.Arg311Gln)
|
rs780595864
|
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.1009C>T (p.Gln337Ter)
|
rs760739894
|
0.00001
|
NM_000286.3(PEX12):c.1021A>T (p.Ile341Phe)
|
rs772028045
|
0.00001
|
NM_000286.3(PEX12):c.1042G>A (p.Val348Ile)
|
rs2072781156
|
0.00001
|
NM_000286.3(PEX12):c.126+6G>A
|
rs1342667188
|
0.00001
|
NM_000286.3(PEX12):c.174G>T (p.Trp58Cys)
|
rs1167729519
|
0.00001
|
NM_000286.3(PEX12):c.182_184dup (p.Glu61_Ile62insLys)
|
rs1412916235
|
0.00001
|
NM_000286.3(PEX12):c.237T>A (p.Ser79Arg)
|
rs773576922
|
0.00001
|
NM_000286.3(PEX12):c.263G>C (p.Gly88Ala)
|
rs1195136213
|
0.00001
|
NM_000286.3(PEX12):c.295A>G (p.Lys99Glu)
|
rs1003905752
|
0.00001
|
NM_000286.3(PEX12):c.301C>G (p.Gln101Glu)
|
rs1316034375
|
0.00001
|
NM_000286.3(PEX12):c.319G>C (p.Gly107Arg)
|
rs371014792
|
0.00001
|
NM_000286.3(PEX12):c.421G>A (p.Asp141Asn)
|
rs1260902616
|
0.00001
|
NM_000286.3(PEX12):c.431C>T (p.Ser144Phe)
|
rs988442642
|
0.00001
|
NM_000286.3(PEX12):c.435T>G (p.Ile145Met)
|
rs956055423
|
0.00001
|
NM_000286.3(PEX12):c.442C>T (p.Pro148Ser)
|
rs1324878121
|
0.00001
|
NM_000286.3(PEX12):c.539G>A (p.Arg180Gln)
|
rs745420734
|
0.00001
|
NM_000286.3(PEX12):c.53C>T (p.Pro18Leu)
|
rs750863211
|
0.00001
|
NM_000286.3(PEX12):c.551G>A (p.Gly184Glu)
|
rs1241662407
|
0.00001
|
NM_000286.3(PEX12):c.55T>C (p.Ser19Pro)
|
rs756812775
|
0.00001
|
NM_000286.3(PEX12):c.601G>T (p.Gly201Cys)
|
rs767608984
|
0.00001
|
NM_000286.3(PEX12):c.616C>A (p.Gln206Lys)
|
rs786205502
|
0.00001
|
NM_000286.3(PEX12):c.628G>T (p.Ala210Ser)
|
rs763285439
|
0.00001
|
NM_000286.3(PEX12):c.671C>G (p.Pro224Arg)
|
rs984673169
|
0.00001
|
NM_000286.3(PEX12):c.734T>C (p.Leu245Ser)
|
rs1364396743
|
0.00001
|
NM_000286.3(PEX12):c.73G>C (p.Ala25Pro)
|
rs762591605
|
0.00001
|
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly)
|
rs759584047
|
0.00001
|
NM_000286.3(PEX12):c.830C>T (p.Thr277Ile)
|
rs1398163895
|
0.00001
|
NM_000286.3(PEX12):c.847C>T (p.Pro283Ser)
|
rs753527027
|
0.00001
|
NM_000286.3(PEX12):c.856G>A (p.Val286Ile)
|
rs766182813
|
0.00001
|
NM_000286.3(PEX12):c.899T>C (p.Met300Thr)
|
rs776806092
|
0.00001
|
NM_000286.3(PEX12):c.8A>G (p.Glu3Gly)
|
rs769571282
|
0.00001
|
NM_000286.3(PEX12):c.913C>G (p.Pro305Ala)
|
rs1444133628
|
0.00001
|
NM_000286.3(PEX12):c.940G>C (p.Asp314His)
|
rs1366482320
|
0.00001
|
NM_000286.3(PEX12):c.946G>C (p.Val316Leu)
|
rs750097322
|
0.00001
|
NM_000286.3(PEX12):c.997G>T (p.Val333Leu)
|
rs762912502
|
0.00001
|
NC_000017.10:g.(?_33902781)_(33905060_?)dup
|
|
|
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.-26G>A
|
rs727504080
|
|
NM_000286.3(PEX12):c.-340G>T
|
rs886052833
|
|
NM_000286.3(PEX12):c.-360G>A
|
rs2072800546
|
|
NM_000286.3(PEX12):c.1006C>T (p.His336Tyr)
|
rs2142228771
|
|
NM_000286.3(PEX12):c.1008C>A (p.His336Gln)
|
rs1291823697
|
|
NM_000286.3(PEX12):c.1012G>A (p.Ala338Thr)
|
rs2072781374
|
|
NM_000286.3(PEX12):c.1021A>G (p.Ile341Val)
|
|
|
NM_000286.3(PEX12):c.1023del (p.Thr342fs)
|
rs1555549723
|
|
NM_000286.3(PEX12):c.1024A>G (p.Thr342Ala)
|
|
|
NM_000286.3(PEX12):c.1025C>T (p.Thr342Ile)
|
|
|
NM_000286.3(PEX12):c.1027G>A (p.Gly343Ser)
|
rs2142228742
|
|
NM_000286.3(PEX12):c.103C>A (p.Pro35Thr)
|
|
|
NM_000286.3(PEX12):c.1060C>G (p.Leu354Val)
|
rs928085463
|
|
NM_000286.3(PEX12):c.1060C>T (p.Leu354Phe)
|
rs928085463
|
|
NM_000286.3(PEX12):c.1067C>T (p.Ser356Phe)
|
|
|
NM_000286.3(PEX12):c.106G>C (p.Ala36Pro)
|
rs2142231624
|
|
NM_000286.3(PEX12):c.106_107delinsAT (p.Ala36Ile)
|
|
|
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs)
|
rs1555549722
|
|
NM_000286.3(PEX12):c.116A>G (p.His39Arg)
|
|
|
NM_000286.3(PEX12):c.117T>G (p.His39Gln)
|
rs727504078
|
|
NM_000286.3(PEX12):c.124A>C (p.Lys42Gln)
|
|
|
NM_000286.3(PEX12):c.126+3A>G
|
rs2072796615
|
|
NM_000286.3(PEX12):c.127-3T>A
|
rs2142231281
|
|
NM_000286.3(PEX12):c.13G>A (p.Gly5Arg)
|
rs2142231778
|
|
NM_000286.3(PEX12):c.143A>T (p.Asn48Ile)
|
|
|
NM_000286.3(PEX12):c.145C>G (p.Pro49Ala)
|
rs2142231256
|
|
NM_000286.3(PEX12):c.16G>A (p.Ala6Thr)
|
rs1344931108
|
|
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del)
|
rs1555549917
|
|
NM_000286.3(PEX12):c.200A>G (p.Asp67Gly)
|
rs2072793873
|
|
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del)
|
rs61752098
|
|
NM_000286.3(PEX12):c.203T>A (p.Leu68His)
|
rs2072793797
|
|
NM_000286.3(PEX12):c.207_209del (p.Leu70del)
|
|
|
NM_000286.3(PEX12):c.218A>G (p.His73Arg)
|
|
|
NM_000286.3(PEX12):c.220T>C (p.Tyr74His)
|
|
|
NM_000286.3(PEX12):c.233C>T (p.Thr78Ile)
|
|
|
NM_000286.3(PEX12):c.238G>A (p.Ala80Thr)
|
|
|
NM_000286.3(PEX12):c.239C>T (p.Ala80Val)
|
rs2072793061
|
|
NM_000286.3(PEX12):c.244T>C (p.Phe82Leu)
|
rs2142231070
|
|
NM_000286.3(PEX12):c.272G>C (p.Arg91Thr)
|
rs2142231028
|
|
NM_000286.3(PEX12):c.29C>T (p.Ala10Val)
|
|
|
NM_000286.3(PEX12):c.302A>G (p.Gln101Arg)
|
|
|
NM_000286.3(PEX12):c.305G>C (p.Arg102Thr)
|
rs2072792418
|
|
NM_000286.3(PEX12):c.349A>C (p.Ile117Leu)
|
|
|
NM_000286.3(PEX12):c.353T>C (p.Met118Thr)
|
rs879075660
|
|
NM_000286.3(PEX12):c.354G>A (p.Met118Ile)
|
rs1025113717
|
|
NM_000286.3(PEX12):c.361G>T (p.Val121Phe)
|
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
NM_000286.3(PEX12):c.373T>C (p.Tyr125His)
|
rs2142230828
|
|
NM_000286.3(PEX12):c.374A>T (p.Tyr125Phe)
|
|
|
NM_000286.3(PEX12):c.382G>A (p.Val128Met)
|
rs2142230817
|
|
NM_000286.3(PEX12):c.391G>A (p.Glu131Lys)
|
rs768259519
|
|
NM_000286.3(PEX12):c.391_408dup (p.Glu131_Ser136dup)
|
rs2142230787
|
|
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del)
|
rs1458853023
|
|
NM_000286.3(PEX12):c.398T>C (p.Leu133Pro)
|
|
|
NM_000286.3(PEX12):c.413G>T (p.Arg138Ile)
|
rs1269271203
|
|
NM_000286.3(PEX12):c.415G>A (p.Glu139Lys)
|
|
|
NM_000286.3(PEX12):c.424G>A (p.Glu142Lys)
|
rs2142230751
|
|
NM_000286.3(PEX12):c.428A>G (p.Tyr143Cys)
|
|
|
NM_000286.3(PEX12):c.430T>C (p.Ser144Pro)
|
rs2072791318
|
|
NM_000286.3(PEX12):c.437A>G (p.His146Arg)
|
|
|
NM_000286.3(PEX12):c.43G>A (p.Asp15Asn)
|
rs200048804
|
|
NM_000286.3(PEX12):c.44A>C (p.Asp15Ala)
|
|
|
NM_000286.3(PEX12):c.461G>A (p.Arg154Gln)
|
rs564816937
|
|
NM_000286.3(PEX12):c.485C>G (p.Ala162Gly)
|
rs2142230649
|
|
NM_000286.3(PEX12):c.505G>A (p.Ala169Thr)
|
rs2142230618
|
|
NM_000286.3(PEX12):c.514G>A (p.Gly172Arg)
|
rs202025715
|
|
NM_000286.3(PEX12):c.51G>C (p.Gln17His)
|
|
|
NM_000286.3(PEX12):c.524T>G (p.Leu175Arg)
|
|
|
NM_000286.3(PEX12):c.531A>G (p.Gln177=)
|
|
|
NM_000286.3(PEX12):c.535C>T (p.Leu179Phe)
|
|
|
NM_000286.3(PEX12):c.538C>G (p.Arg180Gly)
|
rs61752103
|
|
NM_000286.3(PEX12):c.541T>C (p.Tyr181His)
|
|
|
NM_000286.3(PEX12):c.544A>C (p.Ile182Leu)
|
|
|
NM_000286.3(PEX12):c.546C>G (p.Ile182Met)
|
|
|
NM_000286.3(PEX12):c.565C>T (p.His189Tyr)
|
rs1336163775
|
|
NM_000286.3(PEX12):c.571C>A (p.Pro191Thr)
|
rs2072790056
|
|
NM_000286.3(PEX12):c.586G>C (p.Ala196Pro)
|
|
|
NM_000286.3(PEX12):c.599T>C (p.Leu200Pro)
|
|
|
NM_000286.3(PEX12):c.608T>C (p.Leu203Pro)
|
rs896156854
|
|
NM_000286.3(PEX12):c.635A>G (p.Glu212Gly)
|
|
|
NM_000286.3(PEX12):c.641A>G (p.Lys214Arg)
|
|
|
NM_000286.3(PEX12):c.680+3A>G
|
|
|
NM_000286.3(PEX12):c.680G>A (p.Ser227Asn)
|
rs1428801230
|
|
NM_000286.3(PEX12):c.727G>A (p.Val243Ile)
|
|
|
NM_000286.3(PEX12):c.727G>T (p.Val243Phe)
|
|
|
NM_000286.3(PEX12):c.739C>G (p.Leu247Val)
|
rs1030736075
|
|
NM_000286.3(PEX12):c.740T>C (p.Leu247Pro)
|
|
|
NM_000286.3(PEX12):c.760G>A (p.Gly254Ser)
|
|
|
NM_000286.3(PEX12):c.761G>C (p.Gly254Ala)
|
rs2072783485
|
|
NM_000286.3(PEX12):c.768CTT[1] (p.Phe257del)
|
rs1567729860
|
|
NM_000286.3(PEX12):c.781C>T (p.Leu261Phe)
|
|
|
NM_000286.3(PEX12):c.799T>C (p.Ser267Pro)
|
rs2142229155
|
|
NM_000286.3(PEX12):c.822G>C (p.Lys274Asn)
|
|
|
NM_000286.3(PEX12):c.827T>C (p.Leu276Ser)
|
|
|
NM_000286.3(PEX12):c.83G>A (p.Ser28Asn)
|
|
|
NM_000286.3(PEX12):c.844C>G (p.Pro282Ala)
|
|
|
NM_000286.3(PEX12):c.857T>C (p.Val286Ala)
|
|
|
NM_000286.3(PEX12):c.860A>T (p.His287Leu)
|
rs2142229061
|
|
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del)
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rs1366848752
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NM_000286.3(PEX12):c.872A>C (p.Asn291Thr)
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NM_000286.3(PEX12):c.877G>A (p.Asp293Asn)
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rs2142229035
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NM_000286.3(PEX12):c.886C>G (p.Leu296Val)
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NM_000286.3(PEX12):c.886C>T (p.Leu296Phe)
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NM_000286.3(PEX12):c.889T>G (p.Leu297Val)
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NM_000286.3(PEX12):c.892C>T (p.Pro298Ser)
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rs2072782397
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NM_000286.3(PEX12):c.908T>C (p.Val303Ala)
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rs2142228949
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NM_000286.3(PEX12):c.913C>T (p.Pro305Ser)
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rs1444133628
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NM_000286.3(PEX12):c.939T>A (p.Asn313Lys)
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NM_000286.3(PEX12):c.944C>A (p.Thr315Asn)
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rs2142228884
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NM_000286.3(PEX12):c.947T>G (p.Val316Gly)
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NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)
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rs61752112
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NM_000286.3(PEX12):c.94G>A (p.Ala32Thr)
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rs2142231638
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NM_000286.3(PEX12):c.967G>C (p.Val323Leu)
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rs2142228853
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NM_000286.3(PEX12):c.979C>T (p.Arg327Cys)
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NM_000286.3(PEX12):c.980G>A (p.Arg327His)
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NM_000286.3(PEX12):c.987_988del (p.Phe330fs)
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rs764657253
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NM_000286.3(PEX12):c.9G>C (p.Glu3Asp)
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rs2072797963
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