NM_000286.3(PEX12):c.-428T>C
|
rs321600
|
0.84193
|
NM_000286.3(PEX12):c.*517A>G
|
rs1046321
|
0.37640
|
NM_000286.3(PEX12):c.*836G>C
|
rs10068
|
0.36472
|
NM_000286.3(PEX12):c.*166C>A
|
rs1037590
|
0.20532
|
NM_000286.3(PEX12):c.-534C>T
|
rs2278950
|
0.05335
|
NM_000286.3(PEX12):c.*636T>C
|
rs111424374
|
0.01528
|
NM_000286.3(PEX12):c.*297T>C
|
rs113891712
|
0.01526
|
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile)
|
rs12941376
|
0.00945
|
NM_000286.3(PEX12):c.*781T>A
|
rs185900922
|
0.00728
|
NM_000286.3(PEX12):c.867C>T (p.Asp289=)
|
rs138720627
|
0.00647
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_000286.3(PEX12):c.*509T>G
|
rs192370696
|
0.00415
|
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)
|
rs138731505
|
0.00180
|
NM_000286.3(PEX12):c.452G>A (p.Arg151His)
|
rs150186509
|
0.00113
|
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.127-19T>C
|
rs1008239545
|
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_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.834C>T (p.Ala278=)
|
rs755457602
|
0.00006
|
NM_000286.3(PEX12):c.156T>C (p.Tyr52=)
|
rs373145272
|
0.00005
|
NM_000286.3(PEX12):c.46G>A (p.Asp16Asn)
|
rs979319729
|
0.00005
|
NM_000286.3(PEX12):c.597G>A (p.Gln199=)
|
rs756193716
|
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.127-12A>G
|
rs770008536
|
0.00004
|
NM_000286.3(PEX12):c.189T>C (p.Phe63=)
|
rs369640430
|
0.00004
|
NM_000286.3(PEX12):c.409C>T (p.Leu137=)
|
rs17852912
|
0.00004
|
NM_000286.3(PEX12):c.420G>A (p.Glu140=)
|
rs745813377
|
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.126+1G>T
|
rs144259891
|
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.447T>C (p.Ser149=)
|
rs375119247
|
0.00003
|
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter)
|
rs61752103
|
0.00003
|
NM_000286.3(PEX12):c.543C>T (p.Tyr181=)
|
rs192653658
|
0.00003
|
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter)
|
rs61752105
|
0.00003
|
NM_000286.3(PEX12):c.681-15C>G
|
rs371906447
|
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.570A>G (p.Ser190=)
|
rs758132842
|
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.915A>T (p.Pro305=)
|
rs748595918
|
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.1014T>G (p.Ala338=)
|
rs1047155507
|
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.1062C>G (p.Leu354=)
|
rs981025397
|
0.00001
|
NM_000286.3(PEX12):c.1068C>T (p.Ser356=)
|
rs779530147
|
0.00001
|
NM_000286.3(PEX12):c.114G>A (p.Gln38=)
|
rs949083612
|
0.00001
|
NM_000286.3(PEX12):c.126+6G>A
|
rs1342667188
|
0.00001
|
NM_000286.3(PEX12):c.126+8A>G
|
rs1268722683
|
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.211C>T (p.Gln71Ter)
|
rs767447750
|
0.00001
|
NM_000286.3(PEX12):c.216A>G (p.Gln72=)
|
rs763213930
|
0.00001
|
NM_000286.3(PEX12):c.237T>A (p.Ser79Arg)
|
rs773576922
|
0.00001
|
NM_000286.3(PEX12):c.261C>T (p.Tyr87=)
|
rs145784404
|
0.00001
|
NM_000286.3(PEX12):c.263G>C (p.Gly88Ala)
|
rs1195136213
|
0.00001
|
NM_000286.3(PEX12):c.276T>C (p.Ile92=)
|
rs1439488824
|
0.00001
|
NM_000286.3(PEX12):c.285G>A (p.Gly95=)
|
rs1555549869
|
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.307T>C (p.Leu103=)
|
rs765607255
|
0.00001
|
NM_000286.3(PEX12):c.319G>C (p.Gly107Arg)
|
rs371014792
|
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.345A>G (p.Lys115=)
|
rs1293631647
|
0.00001
|
NM_000286.3(PEX12):c.388C>T (p.Leu130=)
|
rs773967871
|
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.450C>A (p.Ser150=)
|
rs986848130
|
0.00001
|
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)
|
rs888633730
|
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.567C>T (p.His189=)
|
rs777653456
|
0.00001
|
NM_000286.3(PEX12):c.576G>C (p.Leu192=)
|
rs963184861
|
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.666G>A (p.Gln222=)
|
rs759295117
|
0.00001
|
NM_000286.3(PEX12):c.671C>G (p.Pro224Arg)
|
rs984673169
|
0.00001
|
NM_000286.3(PEX12):c.680+1G>A
|
rs904972651
|
0.00001
|
NM_000286.3(PEX12):c.708G>A (p.Leu236=)
|
rs1404693909
|
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.744dup (p.Thr249fs)
|
rs61752108
|
0.00001
|
NM_000286.3(PEX12):c.75A>G (p.Ala25=)
|
rs765205355
|
0.00001
|
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly)
|
rs759584047
|
0.00001
|
NM_000286.3(PEX12):c.826T>C (p.Leu276=)
|
rs1465512430
|
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
|
|
|
NC_000017.11:g.35577561_35577592del
|
rs2142231221
|
|
NM_000286.3(PEX12):c.*474A>G
|
rs886052828
|
|
NM_000286.3(PEX12):c.*520A>G
|
rs1298505668
|
|
NM_000286.3(PEX12):c.*550_*552del
|
rs147182821
|
|
NM_000286.3(PEX12):c.*569_*570del
|
rs3031851
|
|
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.*880_*883del
|
rs35050283
|
|
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.1008C>T (p.His336=)
|
|
|
NM_000286.3(PEX12):c.1012G>A (p.Ala338Thr)
|
rs2072781374
|
|
NM_000286.3(PEX12):c.1020C>T (p.Pro340=)
|
|
|
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.1032T>C (p.Tyr344=)
|
rs1352783754
|
|
NM_000286.3(PEX12):c.1038A>G (p.Thr346=)
|
|
|
NM_000286.3(PEX12):c.1039_1040del (p.Glu347fs)
|
rs2142228734
|
|
NM_000286.3(PEX12):c.103C>A (p.Pro35Thr)
|
|
|
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)
|
rs267608184
|
|
NM_000286.3(PEX12):c.1051C>T (p.Leu351=)
|
|
|
NM_000286.3(PEX12):c.105C>T (p.Pro35=)
|
|
|
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.1065C>T (p.Tyr355=)
|
|
|
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.116del (p.His39fs)
|
rs2142231614
|
|
NM_000286.3(PEX12):c.117T>G (p.His39Gln)
|
rs727504078
|
|
NM_000286.3(PEX12):c.122del (p.Val41fs)
|
|
|
NM_000286.3(PEX12):c.124A>C (p.Lys42Gln)
|
|
|
NM_000286.3(PEX12):c.126+17T>C
|
|
|
NM_000286.3(PEX12):c.126+18G>A
|
|
|
NM_000286.3(PEX12):c.126+1G>A
|
rs144259891
|
|
NM_000286.3(PEX12):c.126+1G>C
|
|
|
NM_000286.3(PEX12):c.126+2T>A
|
rs1555549902
|
|
NM_000286.3(PEX12):c.126+3A>G
|
rs2072796615
|
|
NM_000286.3(PEX12):c.127-11_127-2del
|
rs779094557
|
|
NM_000286.3(PEX12):c.127-20A>T
|
|
|
NM_000286.3(PEX12):c.127-3T>A
|
rs2142231281
|
|
NM_000286.3(PEX12):c.127-6C>T
|
|
|
NM_000286.3(PEX12):c.127-7G>T
|
|
|
NM_000286.3(PEX12):c.138A>G (p.Glu46=)
|
|
|
NM_000286.3(PEX12):c.13G>A (p.Gly5Arg)
|
rs2142231778
|
|
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
|
|
|
NM_000286.3(PEX12):c.143A>T (p.Asn48Ile)
|
|
|
NM_000286.3(PEX12):c.145C>G (p.Pro49Ala)
|
rs2142231256
|
|
NM_000286.3(PEX12):c.150C>A (p.Thr50=)
|
rs2142231241
|
|
NM_000286.3(PEX12):c.151_154del (p.His51fs)
|
rs2142231234
|
|
NM_000286.3(PEX12):c.163T>C (p.Leu55=)
|
|
|
NM_000286.3(PEX12):c.16G>A (p.Ala6Thr)
|
rs1344931108
|
|
NM_000286.3(PEX12):c.174del (p.Trp58fs)
|
rs2142231201
|
|
NM_000286.3(PEX12):c.186C>T (p.Ile62=)
|
rs1243883362
|
|
NM_000286.3(PEX12):c.18T>C (p.Ala6=)
|
rs2142231767
|
|
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del)
|
rs1555549917
|
|
NM_000286.3(PEX12):c.190_194del (p.Thr64fs)
|
rs1214971073
|
|
NM_000286.3(PEX12):c.192T>C (p.Thr64=)
|
rs2072793963
|
|
NM_000286.3(PEX12):c.193C>T (p.Leu65=)
|
rs923069079
|
|
NM_000286.3(PEX12):c.1_2del (p.Met1fs)
|
rs1555549923
|
|
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.207G>T (p.Leu69=)
|
|
|
NM_000286.3(PEX12):c.207_209del (p.Leu70del)
|
|
|
NM_000286.3(PEX12):c.20_21dup (p.Phe8fs)
|
|
|
NM_000286.3(PEX12):c.210C>G (p.Leu70=)
|
rs2142231132
|
|
NM_000286.3(PEX12):c.218A>G (p.His73Arg)
|
|
|
NM_000286.3(PEX12):c.220T>C (p.Tyr74His)
|
|
|
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)
|
rs765404768
|
|
NM_000286.3(PEX12):c.222dup (p.Leu75fs)
|
rs2142231111
|
|
NM_000286.3(PEX12):c.223C>T (p.Leu75=)
|
rs2072793560
|
|
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)
|
rs1555549876
|
|
NM_000286.3(PEX12):c.225G>A (p.Leu75=)
|
rs1353291478
|
|
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.255C>T (p.Asn85=)
|
|
|
NM_000286.3(PEX12):c.258T>C (p.Phe86=)
|
|
|
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.271A>C (p.Arg91=)
|
rs2072792820
|
|
NM_000286.3(PEX12):c.272G>C (p.Arg91Thr)
|
rs2142231028
|
|
NM_000286.3(PEX12):c.273A>G (p.Arg91=)
|
|
|
NM_000286.3(PEX12):c.27A>G (p.Thr9=)
|
|
|
NM_000286.3(PEX12):c.286del (p.Asp96fs)
|
|
|
NM_000286.3(PEX12):c.288C>T (p.Asp96=)
|
rs2072792666
|
|
NM_000286.3(PEX12):c.291T>C (p.Thr97=)
|
rs756033737
|
|
NM_000286.3(PEX12):c.291T>G (p.Thr97=)
|
|
|
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.305_306del (p.Arg102fs)
|
rs2142230957
|
|
NM_000286.3(PEX12):c.308dup (p.Leu103fs)
|
rs61752101
|
|
NM_000286.3(PEX12):c.30T>C (p.Ala10=)
|
|
|
NM_000286.3(PEX12):c.315T>C (p.Ser105=)
|
rs1597923365
|
|
NM_000286.3(PEX12):c.321T>C (p.Gly107=)
|
|
|
NM_000286.3(PEX12):c.324C>T (p.Leu108=)
|
|
|
NM_000286.3(PEX12):c.329dup (p.Gln111fs)
|
|
|
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)
|
rs776731688
|
|
NM_000286.3(PEX12):c.33T>C (p.Ala11=)
|
|
|
NM_000286.3(PEX12):c.342G>A (p.Trp114Ter)
|
rs2142230890
|
|
NM_000286.3(PEX12):c.348T>C (p.Ser116=)
|
rs2142230874
|
|
NM_000286.3(PEX12):c.348dup (p.Ile117fs)
|
|
|
NM_000286.3(PEX12):c.349A>C (p.Ile117Leu)
|
|
|
NM_000286.3(PEX12):c.351T>C (p.Ile117=)
|
rs2142230866
|
|
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.360G>C (p.Leu120=)
|
rs772417571
|
|
NM_000286.3(PEX12):c.361G>T (p.Val121Phe)
|
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
NM_000286.3(PEX12):c.363del (p.Leu122fs)
|
|
|
NM_000286.3(PEX12):c.372C>G (p.Pro124=)
|
|
|
NM_000286.3(PEX12):c.373T>C (p.Tyr125His)
|
rs2142230828
|
|
NM_000286.3(PEX12):c.374A>T (p.Tyr125Phe)
|
|
|
NM_000286.3(PEX12):c.375T>C (p.Tyr125=)
|
rs1451972501
|
|
NM_000286.3(PEX12):c.379A>T (p.Lys127Ter)
|
|
|
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.396G>A (p.Lys132=)
|
rs2142230806
|
|
NM_000286.3(PEX12):c.398T>C (p.Leu133Pro)
|
|
|
NM_000286.3(PEX12):c.399G>T (p.Leu133=)
|
|
|
NM_000286.3(PEX12):c.408C>T (p.Ser136=)
|
rs1198655195
|
|
NM_000286.3(PEX12):c.413G>T (p.Arg138Ile)
|
rs1269271203
|
|
NM_000286.3(PEX12):c.414A>G (p.Arg138=)
|
|
|
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.429_431inv (p.Tyr143_Ser144delinsTer)
|
|
|
NM_000286.3(PEX12):c.42C>G (p.Ala14=)
|
rs1397167479
|
|
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.445_454del (p.Ser149fs)
|
rs1567730901
|
|
NM_000286.3(PEX12):c.44A>C (p.Asp15Ala)
|
|
|
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.461G>A (p.Arg154Gln)
|
rs564816937
|
|
NM_000286.3(PEX12):c.462A>G (p.Arg154=)
|
|
|
NM_000286.3(PEX12):c.471del (p.Ala158fs)
|
rs2142230667
|
|
NM_000286.3(PEX12):c.474T>C (p.Ala158=)
|
rs2072790859
|
|
NM_000286.3(PEX12):c.483A>G (p.Ala161=)
|
|
|
NM_000286.3(PEX12):c.485C>G (p.Ala162Gly)
|
rs2142230649
|
|
NM_000286.3(PEX12):c.486C>T (p.Ala162=)
|
|
|
NM_000286.3(PEX12):c.492A>G (p.Pro164=)
|
rs2142230631
|
|
NM_000286.3(PEX12):c.495T>C (p.Phe165=)
|
rs2142230624
|
|
NM_000286.3(PEX12):c.498G>A (p.Val166=)
|
|
|
NM_000286.3(PEX12):c.4del (p.Ala2fs)
|
|
|
NM_000286.3(PEX12):c.505G>A (p.Ala169Thr)
|
rs2142230618
|
|
NM_000286.3(PEX12):c.511del (p.Glu171fs)
|
rs945104524
|
|
NM_000286.3(PEX12):c.514G>A (p.Gly172Arg)
|
rs202025715
|
|
NM_000286.3(PEX12):c.518G>A (p.Trp173Ter)
|
rs923109489
|
|
NM_000286.3(PEX12):c.51G>A (p.Gln17=)
|
rs561976188
|
|
NM_000286.3(PEX12):c.51G>C (p.Gln17His)
|
|
|
NM_000286.3(PEX12):c.51_54del (p.Gln17fs)
|
rs886041458
|
|
NM_000286.3(PEX12):c.524T>G (p.Leu175Arg)
|
|
|
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)
|
rs61752102
|
|
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.541dup (p.Tyr181fs)
|
|
|
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
|
|
|
NM_000286.3(PEX12):c.544A>C (p.Ile182Leu)
|
|
|
NM_000286.3(PEX12):c.546C>G (p.Ile182Met)
|
|
|
NM_000286.3(PEX12):c.547C>T (p.Leu183=)
|
rs1230959859
|
|
NM_000286.3(PEX12):c.54A>G (p.Pro18=)
|
|
|
NM_000286.3(PEX12):c.564T>C (p.His188=)
|
|
|
NM_000286.3(PEX12):c.565C>T (p.His189Tyr)
|
rs1336163775
|
|
NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)
|
|
|
NM_000286.3(PEX12):c.571C>A (p.Pro191Thr)
|
rs2072790056
|
|
NM_000286.3(PEX12):c.573A>G (p.Pro191=)
|
|
|
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
|
|
|
NM_000286.3(PEX12):c.574C>T (p.Leu192=)
|
rs2142230532
|
|
NM_000286.3(PEX12):c.582G>A (p.Arg194=)
|
rs2072790006
|
|
NM_000286.3(PEX12):c.583C>T (p.Leu195=)
|
|
|
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.60C>T (p.Ile20=)
|
rs2142231683
|
|
NM_000286.3(PEX12):c.611_612del (p.Thr204fs)
|
|
|
NM_000286.3(PEX12):c.624A>T (p.Ile208=)
|
|
|
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.633G>A (p.Leu211=)
|
|
|
NM_000286.3(PEX12):c.635A>G (p.Glu212Gly)
|
|
|
NM_000286.3(PEX12):c.641A>G (p.Lys214Arg)
|
|
|
NM_000286.3(PEX12):c.644del (p.Pro215fs)
|
rs1199283977
|
|
NM_000286.3(PEX12):c.645A>G (p.Pro215=)
|
rs2142230422
|
|
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter)
|
rs1555549841
|
|
NM_000286.3(PEX12):c.669A>G (p.Gln223=)
|
rs776230088
|
|
NM_000286.3(PEX12):c.669del (p.Gln223fs)
|
|
|
NM_000286.3(PEX12):c.66G>A (p.Glu22=)
|
|
|
NM_000286.3(PEX12):c.675C>T (p.Ala225=)
|
|
|
NM_000286.3(PEX12):c.680+10T>C
|
rs2142230380
|
|
NM_000286.3(PEX12):c.680+11A>G
|
|
|
NM_000286.3(PEX12):c.680+12A>T
|
|
|
NM_000286.3(PEX12):c.680+18C>T
|
rs2142230370
|
|
NM_000286.3(PEX12):c.680+19C>T
|
|
|
NM_000286.3(PEX12):c.680+3A>G
|
|
|
NM_000286.3(PEX12):c.680+8C>T
|
|
|
NM_000286.3(PEX12):c.680G>A (p.Ser227Asn)
|
rs1428801230
|
|
NM_000286.3(PEX12):c.680_680+12del
|
|
|
NM_000286.3(PEX12):c.680_680+1delinsCA
|
rs2142230388
|
|
NM_000286.3(PEX12):c.681-15_681-13del
|
|
|
NM_000286.3(PEX12):c.681-21_681-19del
|
rs2142229430
|
|
NM_000286.3(PEX12):c.681-3_681-2del
|
rs138568975
|
|
NM_000286.3(PEX12):c.681-5A>C
|
|
|
NM_000286.3(PEX12):c.684T>C (p.Val228=)
|
|
|
NM_000286.3(PEX12):c.684_687del (p.Ser229fs)
|
rs62642859
|
|
NM_000286.3(PEX12):c.687_690del (p.Ser229fs)
|
rs1555549769
|
|
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter)
|
rs104894616
|
|
NM_000286.3(PEX12):c.693G>A (p.Lys231=)
|
|
|
NM_000286.3(PEX12):c.698dup (p.Asn233fs)
|
|
|
NM_000286.3(PEX12):c.699C>T (p.Asn233=)
|
rs2142229355
|
|
NM_000286.3(PEX12):c.69G>A (p.Val23=)
|
|
|
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)
|
rs1238451790
|
|
NM_000286.3(PEX12):c.6T>C (p.Ala2=)
|
rs2142231791
|
|
NM_000286.3(PEX12):c.705T>C (p.Ala235=)
|
rs2072784066
|
|
NM_000286.3(PEX12):c.706C>T (p.Leu236=)
|
rs2142229341
|
|
NM_000286.3(PEX12):c.714A>G (p.Lys238=)
|
rs2142229321
|
|
NM_000286.3(PEX12):c.723G>A (p.Gly241=)
|
|
|
NM_000286.3(PEX12):c.725del (p.Gly242fs)
|
|
|
NM_000286.3(PEX12):c.727G>A (p.Val243Ile)
|
|
|
NM_000286.3(PEX12):c.727G>T (p.Val243Phe)
|
|
|
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs)
|
rs61752107
|
|
NM_000286.3(PEX12):c.739C>G (p.Leu247Val)
|
rs1030736075
|
|
NM_000286.3(PEX12):c.740T>C (p.Leu247Pro)
|
|
|
NM_000286.3(PEX12):c.744T>C (p.Ser248=)
|
|
|
NM_000286.3(PEX12):c.760G>A (p.Gly254Ser)
|
|
|
NM_000286.3(PEX12):c.761G>C (p.Gly254Ala)
|
rs2072783485
|
|
NM_000286.3(PEX12):c.765A>G (p.Val255=)
|
rs1438298273
|
|
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs)
|
rs1057519507
|
|
NM_000286.3(PEX12):c.768CTT[1] (p.Phe257del)
|
rs1567729860
|
|
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.777G>A (p.Gln259=)
|
rs1317256470
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NM_000286.3(PEX12):c.781C>T (p.Leu261Phe)
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NM_000286.3(PEX12):c.781del (p.Asp262fs)
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rs754193088
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NM_000286.3(PEX12):c.783T>C (p.Leu261=)
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rs1192515379
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NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)
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rs747099919
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NM_000286.3(PEX12):c.795C>G (p.Tyr265Ter)
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rs1429126106
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NM_000286.3(PEX12):c.795C>T (p.Tyr265=)
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rs1429126106
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NM_000286.3(PEX12):c.799T>C (p.Ser267Pro)
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rs2142229155
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NM_000286.3(PEX12):c.804A>G (p.Glu268=)
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NM_000286.3(PEX12):c.808del (p.Gln270fs)
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NM_000286.3(PEX12):c.816C>G (p.Thr272=)
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NM_000286.3(PEX12):c.816dup (p.Ile273fs)
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NM_000286.3(PEX12):c.819C>T (p.Ile273=)
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NM_000286.3(PEX12):c.822G>C (p.Lys274Asn)
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NM_000286.3(PEX12):c.827T>C (p.Leu276Ser)
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NM_000286.3(PEX12):c.829_832del (p.Thr277fs)
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NM_000286.3(PEX12):c.83G>A (p.Ser28Asn)
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NM_000286.3(PEX12):c.842del (p.Thr281fs)
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rs2072782816
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NM_000286.3(PEX12):c.844C>G (p.Pro282Ala)
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NM_000286.3(PEX12):c.846A>G (p.Pro282=)
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NM_000286.3(PEX12):c.849A>G (p.Pro283=)
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rs1597922401
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NM_000286.3(PEX12):c.857T>C (p.Val286Ala)
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NM_000286.3(PEX12):c.860A>T (p.His287Leu)
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rs2142229061
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NM_000286.3(PEX12):c.861C>T (p.His287=)
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rs2072782684
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NM_000286.3(PEX12):c.864A>G (p.Leu288=)
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rs2142229051
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NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del)
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rs1366848752
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NM_000286.3(PEX12):c.86del (p.Ser28_Leu29insTer)
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NM_000286.3(PEX12):c.872A>C (p.Asn291Thr)
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NM_000286.3(PEX12):c.875_876del (p.Asn291_Ser292insTer)
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NM_000286.3(PEX12):c.876_877insTT (p.Asp293fs)
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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.885C>T (p.Pro295=)
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rs2142229017
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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.887del (p.Leu296fs)
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NM_000286.3(PEX12):c.888C>G (p.Leu296=)
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rs2142229002
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NM_000286.3(PEX12):c.888C>T (p.Leu296=)
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rs2142229002
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NM_000286.3(PEX12):c.888_889del (p.Leu297fs)
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rs398123301
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NM_000286.3(PEX12):c.889T>G (p.Leu297Val)
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NM_000286.3(PEX12):c.88_89del (p.Met30fs)
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rs1555549909
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NM_000286.3(PEX12):c.890T>G (p.Leu297Ter)
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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.894del (p.Lys299_Met300insTer)
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rs398123302
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NM_000286.3(PEX12):c.895A>T (p.Lys299Ter)
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rs2142228982
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NM_000286.3(PEX12):c.906T>C (p.Thr302=)
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rs371277434
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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.910_911del (p.Cys304fs)
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rs867245161
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NM_000286.3(PEX12):c.912C>T (p.Cys304=)
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rs772194164
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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.915A>C (p.Pro305=)
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NM_000286.3(PEX12):c.920_921del (p.Cys307fs)
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rs2142228928
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NM_000286.3(PEX12):c.921T>C (p.Cys307=)
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NM_000286.3(PEX12):c.936G>A (p.Val312=)
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rs2142228901
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NM_000286.3(PEX12):c.936G>T (p.Val312=)
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NM_000286.3(PEX12):c.939T>A (p.Asn313Lys)
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NM_000286.3(PEX12):c.939T>C (p.Asn313=)
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NM_000286.3(PEX12):c.93A>C (p.Thr31=)
|
rs141198490
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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.945T>A (p.Thr315=)
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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.957C>G (p.Thr319=)
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NM_000286.3(PEX12):c.959C>T (p.Ser320Phe)
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rs28936697
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NM_000286.3(PEX12):c.961_964del (p.Gly321fs)
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rs749650201
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NM_000286.3(PEX12):c.963C>G (p.Gly321=)
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NM_000286.3(PEX12):c.966T>C (p.Tyr322=)
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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.969G>A (p.Val323=)
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rs2142228848
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NM_000286.3(PEX12):c.969_970del (p.Phe324fs)
|
rs2072781707
|
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NM_000286.3(PEX12):c.972T>C (p.Phe324=)
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|
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NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter)
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rs941358133
|
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NM_000286.3(PEX12):c.978C>T (p.Tyr326=)
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|
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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.987G>A (p.Val329=)
|
|
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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>A (p.Glu3=)
|
rs2072797963
|
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NM_000286.3(PEX12):c.9G>C (p.Glu3Asp)
|
rs2072797963
|
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