NM_002857.4(PEX19):c.594+37T>C
|
rs2795067
|
0.64655
|
NM_002857.4(PEX19):c.*2156C>G
|
rs10594
|
0.44938
|
NM_002857.4(PEX19):c.*2353G>T
|
rs9853
|
0.04407
|
NM_002857.4(PEX19):c.*487T>A
|
rs16831724
|
0.03465
|
NM_002857.4(PEX19):c.*1084T>C
|
rs77962224
|
0.03113
|
NM_002857.4(PEX19):c.*2417C>T
|
rs193290301
|
0.02557
|
NM_002857.4(PEX19):c.433-11G>T
|
rs41265791
|
0.02551
|
NM_002857.4(PEX19):c.*2637G>A
|
rs41265787
|
0.02253
|
NM_002857.4(PEX19):c.*898A>G
|
rs8989
|
0.02188
|
NM_002857.4(PEX19):c.*328A>G
|
rs115260345
|
0.01698
|
NM_002857.4(PEX19):c.*2057T>G
|
rs56089807
|
0.01433
|
NM_002857.4(PEX19):c.879T>C (p.Gly293=)
|
rs74125561
|
0.01375
|
NM_002857.3(PEX19):c.-14T>G
|
rs2301297
|
0.00535
|
NM_002857.4(PEX19):c.771+3A>G
|
rs141133579
|
0.00429
|
NM_002857.4(PEX19):c.261C>T (p.Phe87=)
|
rs146644725
|
0.00206
|
NM_002857.4(PEX19):c.*1471A>T
|
rs2301299
|
0.00133
|
NM_002857.4(PEX19):c.346+14A>G
|
rs77156017
|
0.00133
|
NM_002857.4(PEX19):c.*864C>T
|
rs144938105
|
0.00132
|
NM_002857.4(PEX19):c.181-5C>T
|
rs199818690
|
0.00109
|
NM_002857.4(PEX19):c.459G>A (p.Leu153=)
|
rs78340311
|
0.00098
|
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys)
|
rs145845197
|
0.00093
|
NM_002857.4(PEX19):c.*1069G>A
|
rs542626903
|
0.00084
|
NM_002857.4(PEX19):c.*1802G>C
|
rs745362133
|
0.00079
|
NM_002857.4(PEX19):c.564G>A (p.Leu188=)
|
rs149058086
|
0.00078
|
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)
|
rs142780305
|
0.00067
|
NM_002857.4(PEX19):c.-4C>T
|
rs201541204
|
0.00053
|
NM_002857.4(PEX19):c.87C>T (p.Phe29=)
|
rs141911166
|
0.00048
|
NM_002857.4(PEX19):c.*1335G>T
|
rs748536788
|
0.00044
|
NM_002857.4(PEX19):c.255G>A (p.Ala85=)
|
rs150928521
|
0.00043
|
NM_002857.4(PEX19):c.254C>T (p.Ala85Val)
|
rs11550119
|
0.00041
|
NM_002857.4(PEX19):c.402T>C (p.Ser134=)
|
rs139828188
|
0.00036
|
NM_002857.4(PEX19):c.347-13T>A
|
rs371091340
|
0.00034
|
NM_002857.4(PEX19):c.*2717A>G
|
rs574056299
|
0.00032
|
NM_002857.4(PEX19):c.878G>C (p.Gly293Ala)
|
rs139875266
|
0.00029
|
NM_002857.4(PEX19):c.457C>T (p.Leu153=)
|
rs752489082
|
0.00022
|
NM_002857.4(PEX19):c.*2224G>T
|
rs573966291
|
0.00021
|
NM_002857.4(PEX19):c.*2536A>G
|
rs141829599
|
0.00021
|
NM_002857.4(PEX19):c.*1980T>C
|
rs372976790
|
0.00018
|
NM_002857.4(PEX19):c.*2413C>T
|
rs183164292
|
0.00018
|
NM_002857.4(PEX19):c.504A>G (p.Glu168=)
|
rs200311685
|
0.00018
|
NM_002857.4(PEX19):c.*169C>T
|
rs192931972
|
0.00016
|
NM_002857.4(PEX19):c.21C>G (p.Gly7=)
|
rs140039683
|
0.00016
|
NM_002857.4(PEX19):c.845C>T (p.Ala282Val)
|
rs373092548
|
0.00016
|
NM_002857.4(PEX19):c.*854G>A
|
rs747191827
|
0.00014
|
NM_002857.4(PEX19):c.*1013G>A
|
rs747057473
|
0.00011
|
NM_002857.4(PEX19):c.195T>C (p.Ala65=)
|
rs777582215
|
0.00011
|
NM_002857.4(PEX19):c.690G>A (p.Glu230=)
|
rs146626996
|
0.00011
|
NM_002857.4(PEX19):c.262G>A (p.Glu88Lys)
|
rs372422266
|
0.00010
|
NM_002857.4(PEX19):c.546A>G (p.Leu182=)
|
rs138837673
|
0.00010
|
NM_002857.4(PEX19):c.857C>G (p.Ser286Trp)
|
rs149976198
|
0.00010
|
NM_002857.4(PEX19):c.816+14A>T
|
rs558387492
|
0.00009
|
NM_002857.4(PEX19):c.*1145C>T
|
rs75916849
|
0.00008
|
NM_002857.4(PEX19):c.*1163T>C
|
rs575199724
|
0.00008
|
NM_002857.4(PEX19):c.771+18C>T
|
rs1336101202
|
0.00008
|
NM_002857.4(PEX19):c.*1745T>C
|
rs186821837
|
0.00007
|
NM_002857.4(PEX19):c.*1852C>G
|
rs370387085
|
0.00007
|
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_002857.4(PEX19):c.348C>T (p.Gly116=)
|
rs144361779
|
0.00006
|
NM_002857.4(PEX19):c.488A>G (p.Asp163Gly)
|
rs138174625
|
0.00006
|
NM_002857.4(PEX19):c.*1103C>T
|
rs561417695
|
0.00005
|
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro)
|
rs747627762
|
0.00005
|
NM_002857.4(PEX19):c.*662C>T
|
rs773981843
|
0.00004
|
NM_002857.4(PEX19):c.159A>G (p.Arg53=)
|
rs1218867675
|
0.00004
|
NM_002857.4(PEX19):c.193G>A (p.Ala65Thr)
|
rs376013124
|
0.00004
|
NM_002857.4(PEX19):c.215A>G (p.Gln72Arg)
|
rs543271441
|
0.00004
|
NM_002857.4(PEX19):c.595-19C>T
|
rs764622800
|
0.00004
|
NM_002857.4(PEX19):c.619C>T (p.Arg207Trp)
|
rs367813991
|
0.00004
|
NM_002857.4(PEX19):c.70+8C>T
|
rs371723760
|
0.00004
|
NM_002857.4(PEX19):c.786C>T (p.Gly262=)
|
rs146846475
|
0.00004
|
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_002857.4(PEX19):c.225C>T (p.Phe75=)
|
rs751536744
|
0.00003
|
NM_002857.4(PEX19):c.432+12G>A
|
rs1265994490
|
0.00003
|
NM_002857.4(PEX19):c.490G>A (p.Glu164Lys)
|
rs370126224
|
0.00003
|
NM_002857.4(PEX19):c.595-17A>G
|
rs753045868
|
0.00003
|
NM_002857.4(PEX19):c.670G>A (p.Val224Ile)
|
rs372197333
|
0.00003
|
NM_002857.4(PEX19):c.763dup (p.Met255fs)
|
rs267608186
|
0.00003
|
NM_002857.4(PEX19):c.772-8T>C
|
rs367964884
|
0.00003
|
NM_002857.4(PEX19):c.856T>G (p.Ser286Ala)
|
rs1272607089
|
0.00003
|
NM_002857.4(PEX19):c.863C>T (p.Pro288Leu)
|
rs746472158
|
0.00003
|
NM_002857.3(PEX19):c.-17A>C
|
rs748844578
|
0.00002
|
NM_002857.4(PEX19):c.*2383C>G
|
rs369641116
|
0.00002
|
NM_002857.4(PEX19):c.143C>T (p.Ser48Leu)
|
rs375153087
|
0.00002
|
NM_002857.4(PEX19):c.17A>G (p.Glu6Gly)
|
rs181602818
|
0.00002
|
NM_002857.4(PEX19):c.181-4G>A
|
rs747572423
|
0.00002
|
NM_002857.4(PEX19):c.192C>T (p.Phe64=)
|
rs750771594
|
0.00002
|
NM_002857.4(PEX19):c.219A>G (p.Glu73=)
|
rs767113471
|
0.00002
|
NM_002857.4(PEX19):c.272T>C (p.Met91Thr)
|
rs747047470
|
0.00002
|
NM_002857.4(PEX19):c.435C>A (p.Asn145Lys)
|
rs771657561
|
0.00002
|
NM_002857.4(PEX19):c.447G>A (p.Ser149=)
|
rs749234062
|
0.00002
|
NM_002857.4(PEX19):c.553A>G (p.Lys185Glu)
|
rs765741144
|
0.00002
|
NM_002857.4(PEX19):c.669C>T (p.Ser223=)
|
rs375907790
|
0.00002
|
NM_002857.4(PEX19):c.696T>A (p.Phe232Leu)
|
rs753324166
|
0.00002
|
NM_002857.4(PEX19):c.700G>T (p.Ala234Ser)
|
rs760726802
|
0.00002
|
NM_002857.4(PEX19):c.772-7T>C
|
rs777254776
|
0.00002
|
NM_002857.4(PEX19):c.783A>G (p.Leu261=)
|
rs754972525
|
0.00002
|
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.*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.10G>T (p.Ala4Ser)
|
rs1436027867
|
0.00001
|
NM_002857.4(PEX19):c.110C>T (p.Ala37Val)
|
rs575112594
|
0.00001
|
NM_002857.4(PEX19):c.129G>A (p.Thr43=)
|
rs921113258
|
0.00001
|
NM_002857.4(PEX19):c.12T>C (p.Ala4=)
|
rs1657962000
|
0.00001
|
NM_002857.4(PEX19):c.148C>A (p.Pro50Thr)
|
rs1280706455
|
0.00001
|
NM_002857.4(PEX19):c.180+13C>A
|
rs1420876010
|
0.00001
|
NM_002857.4(PEX19):c.181G>A (p.Asp61Asn)
|
rs1364910260
|
0.00001
|
NM_002857.4(PEX19):c.198C>T (p.Ser66=)
|
rs1332354119
|
0.00001
|
NM_002857.4(PEX19):c.200A>C (p.Gln67Pro)
|
rs755726384
|
0.00001
|
NM_002857.4(PEX19):c.249C>T (p.Ala83=)
|
rs1359237654
|
0.00001
|
NM_002857.4(PEX19):c.31G>C (p.Gly11Arg)
|
rs772905234
|
0.00001
|
NM_002857.4(PEX19):c.346+1G>A
|
rs75072667
|
0.00001
|
NM_002857.4(PEX19):c.365A>G (p.Gln122Arg)
|
rs1405573106
|
0.00001
|
NM_002857.4(PEX19):c.366A>G (p.Gln122=)
|
rs930041404
|
0.00001
|
NM_002857.4(PEX19):c.367C>G (p.Gln123Glu)
|
rs1334997035
|
0.00001
|
NM_002857.4(PEX19):c.37G>C (p.Glu13Gln)
|
rs868021380
|
0.00001
|
NM_002857.4(PEX19):c.397C>T (p.Leu133=)
|
rs146321212
|
0.00001
|
NM_002857.4(PEX19):c.398dup (p.Ser134fs)
|
rs1240816309
|
0.00001
|
NM_002857.4(PEX19):c.424G>C (p.Asp142His)
|
rs778927500
|
0.00001
|
NM_002857.4(PEX19):c.432+2T>C
|
rs757078881
|
0.00001
|
NM_002857.4(PEX19):c.433-6A>G
|
rs775148442
|
0.00001
|
NM_002857.4(PEX19):c.442A>G (p.Met148Val)
|
rs905834830
|
0.00001
|
NM_002857.4(PEX19):c.484A>C (p.Met162Leu)
|
rs1205563557
|
0.00001
|
NM_002857.4(PEX19):c.489C>T (p.Asp163=)
|
rs765686168
|
0.00001
|
NM_002857.4(PEX19):c.517C>T (p.Pro173Ser)
|
rs1298851036
|
0.00001
|
NM_002857.4(PEX19):c.526C>G (p.Gln176Glu)
|
rs1480182464
|
0.00001
|
NM_002857.4(PEX19):c.536T>G (p.Met179Arg)
|
rs1234326495
|
0.00001
|
NM_002857.4(PEX19):c.552C>T (p.Ser184=)
|
rs1399277810
|
0.00001
|
NM_002857.4(PEX19):c.57G>C (p.Glu19Asp)
|
rs1170972153
|
0.00001
|
NM_002857.4(PEX19):c.594G>C (p.Lys198Asn)
|
rs773909342
|
0.00001
|
NM_002857.4(PEX19):c.595-12C>T
|
rs907000189
|
0.00001
|
NM_002857.4(PEX19):c.595-18C>G
|
rs371272792
|
0.00001
|
NM_002857.4(PEX19):c.61C>G (p.Leu21Val)
|
rs374112351
|
0.00001
|
NM_002857.4(PEX19):c.629T>C (p.Leu210Pro)
|
rs775425209
|
0.00001
|
NM_002857.4(PEX19):c.667A>G (p.Ser223Gly)
|
rs778154365
|
0.00001
|
NM_002857.4(PEX19):c.735G>A (p.Lys245=)
|
rs749331745
|
0.00001
|
NM_002857.4(PEX19):c.76C>A (p.Leu26Ile)
|
rs146340199
|
0.00001
|
NM_002857.4(PEX19):c.772C>G (p.Leu258Val)
|
rs752093054
|
0.00001
|
NM_002857.4(PEX19):c.816+7A>G
|
rs776784191
|
0.00001
|
NM_002857.4(PEX19):c.858G>A (p.Ser286=)
|
rs754510943
|
0.00001
|
NM_002857.4(PEX19):c.867A>G (p.Pro289=)
|
rs1657686642
|
0.00001
|
NM_002857.4(PEX19):c.88G>A (p.Asp30Asn)
|
rs764990251
|
0.00001
|
NM_002857.4(PEX19):c.895_896del (p.Met299fs)
|
rs1175608825
|
0.00001
|
NC_000001.10:g.(?_160090676)_(160327063_?)dup
|
|
|
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.*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.105C>T (p.Ser35=)
|
|
|
NM_002857.4(PEX19):c.115C>G (p.Pro39Ala)
|
rs144256391
|
|
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser)
|
rs144256391
|
|
NM_002857.4(PEX19):c.118T>G (p.Ser40Ala)
|
|
|
NM_002857.4(PEX19):c.11C>A (p.Ala4Asp)
|
rs766641297
|
|
NM_002857.4(PEX19):c.122_123insAGA (p.Thr41_Thr42insAsp)
|
rs2101805810
|
|
NM_002857.4(PEX19):c.128C>T (p.Thr43Met)
|
|
|
NM_002857.4(PEX19):c.132C>T (p.Ala44=)
|
rs1657875449
|
|
NM_002857.4(PEX19):c.13G>A (p.Glu5Lys)
|
|
|
NM_002857.4(PEX19):c.144G>A (p.Ser48=)
|
rs1272211650
|
|
NM_002857.4(PEX19):c.144G>C (p.Ser48=)
|
|
|
NM_002857.4(PEX19):c.147G>T (p.Gly49=)
|
|
|
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.150C>T (p.Pro50=)
|
|
|
NM_002857.4(PEX19):c.152A>G (p.Gln51Arg)
|
rs2101805717
|
|
NM_002857.4(PEX19):c.152AGA[1] (p.Lys52del)
|
rs2101805702
|
|
NM_002857.4(PEX19):c.161C>T (p.Ser54Leu)
|
rs1657873534
|
|
NM_002857.4(PEX19):c.162G>A (p.Ser54=)
|
rs540593146
|
|
NM_002857.4(PEX19):c.162G>T (p.Ser54=)
|
rs540593146
|
|
NM_002857.4(PEX19):c.166G>A (p.Gly56Arg)
|
rs1657873152
|
|
NM_002857.4(PEX19):c.172A>G (p.Thr58Ala)
|
|
|
NM_002857.4(PEX19):c.174T>G (p.Thr58=)
|
rs1657872690
|
|
NM_002857.4(PEX19):c.180+13C>T
|
|
|
NM_002857.4(PEX19):c.180+15C>T
|
|
|
NM_002857.4(PEX19):c.180+16C>G
|
|
|
NM_002857.4(PEX19):c.180+1G>T
|
rs1320716582
|
|
NM_002857.4(PEX19):c.181-12C>T
|
|
|
NM_002857.4(PEX19):c.181-15A>G
|
rs114403769
|
|
NM_002857.4(PEX19):c.181-15A>T
|
rs114403769
|
|
NM_002857.4(PEX19):c.181-16C>T
|
rs1657850255
|
|
NM_002857.4(PEX19):c.181-2A>G
|
rs2101804905
|
|
NM_002857.4(PEX19):c.181-4G>T
|
rs747572423
|
|
NM_002857.4(PEX19):c.181-6C>G
|
|
|
NM_002857.4(PEX19):c.181-6C>T
|
rs570376017
|
|
NM_002857.4(PEX19):c.181-9C>T
|
|
|
NM_002857.4(PEX19):c.186C>A (p.Ala62=)
|
|
|
NM_002857.4(PEX19):c.187C>G (p.Leu63Val)
|
rs1166824486
|
|
NM_002857.4(PEX19):c.18A>T (p.Glu6Asp)
|
|
|
NM_002857.4(PEX19):c.190T>A (p.Phe64Ile)
|
rs1657846391
|
|
NM_002857.4(PEX19):c.199C>G (p.Gln67Glu)
|
|
|
NM_002857.4(PEX19):c.19G>A (p.Gly7Ser)
|
rs963164666
|
|
NM_002857.4(PEX19):c.211T>C (p.Phe71Leu)
|
|
|
NM_002857.4(PEX19):c.212T>A (p.Phe71Tyr)
|
|
|
NM_002857.4(PEX19):c.212T>G (p.Phe71Cys)
|
|
|
NM_002857.4(PEX19):c.21C>T (p.Gly7=)
|
rs140039683
|
|
NM_002857.4(PEX19):c.225C>G (p.Phe75Leu)
|
|
|
NM_002857.4(PEX19):c.234A>G (p.Glu78=)
|
rs2101804754
|
|
NM_002857.4(PEX19):c.235C>T (p.Leu79=)
|
|
|
NM_002857.4(PEX19):c.237G>T (p.Leu79=)
|
|
|
NM_002857.4(PEX19):c.239C>T (p.Ala80Val)
|
|
|
NM_002857.4(PEX19):c.23G>A (p.Cys8Tyr)
|
rs369984634
|
|
NM_002857.4(PEX19):c.23G>T (p.Cys8Phe)
|
rs369984634
|
|
NM_002857.4(PEX19):c.242C>T (p.Ser81Phe)
|
rs766263544
|
|
NM_002857.4(PEX19):c.248C>G (p.Ala83Gly)
|
rs1657842985
|
|
NM_002857.4(PEX19):c.254C>A (p.Ala85Glu)
|
rs11550119
|
|
NM_002857.4(PEX19):c.25A>G (p.Ser9Gly)
|
rs775660692
|
|
NM_002857.4(PEX19):c.262G>C (p.Glu88Gln)
|
rs372422266
|
|
NM_002857.4(PEX19):c.27T>C (p.Ser9=)
|
|
|
NM_002857.4(PEX19):c.280T>C (p.Leu94=)
|
|
|
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)
|
|
|
NM_002857.4(PEX19):c.284C>A (p.Ala95Asp)
|
|
|
NM_002857.4(PEX19):c.294del (p.Glu98fs)
|
rs2101804576
|
|
NM_002857.4(PEX19):c.302T>G (p.Leu101Arg)
|
|
|
NM_002857.4(PEX19):c.305T>C (p.Val102Ala)
|
|
|
NM_002857.4(PEX19):c.306G>A (p.Val102=)
|
rs2101804535
|
|
NM_002857.4(PEX19):c.30C>A (p.Val10=)
|
|
|
NM_002857.4(PEX19):c.30C>G (p.Val10=)
|
rs144440223
|
|
NM_002857.4(PEX19):c.30C>T (p.Val10=)
|
rs144440223
|
|
NM_002857.4(PEX19):c.320del (p.Lys107fs)
|
rs1571138735
|
|
NM_002857.4(PEX19):c.338G>T (p.Gly113Val)
|
rs2101804477
|
|
NM_002857.4(PEX19):c.346+15G>A
|
rs369060714
|
|
NM_002857.4(PEX19):c.346+2T>C
|
rs1657837348
|
|
NM_002857.4(PEX19):c.346+7A>G
|
rs1657837179
|
|
NM_002857.4(PEX19):c.346+9A>G
|
|
|
NM_002857.4(PEX19):c.347-19C>T
|
rs2101803474
|
|
NM_002857.4(PEX19):c.347-20G>A
|
rs1557854826
|
|
NM_002857.4(PEX19):c.347-5C>T
|
|
|
NM_002857.4(PEX19):c.347-8T>C
|
rs2101803453
|
|
NM_002857.4(PEX19):c.347G>A (p.Gly116Asp)
|
rs1657814596
|
|
NM_002857.4(PEX19):c.351T>G (p.Ser117Arg)
|
rs376684423
|
|
NM_002857.4(PEX19):c.354T>C (p.Asp118=)
|
|
|
NM_002857.4(PEX19):c.360C>T (p.Thr120=)
|
|
|
NM_002857.4(PEX19):c.362C>T (p.Ser121Phe)
|
rs1557854775
|
|
NM_002857.4(PEX19):c.369A>G (p.Gln123=)
|
rs749676675
|
|
NM_002857.4(PEX19):c.381T>G (p.Ser127=)
|
|
|
NM_002857.4(PEX19):c.383G>A (p.Cys128Tyr)
|
rs2101803261
|
|
NM_002857.4(PEX19):c.384C>G (p.Cys128Trp)
|
|
|
NM_002857.4(PEX19):c.387A>G (p.Leu129=)
|
|
|
NM_002857.4(PEX19):c.395C>G (p.Thr132Arg)
|
|
|
NM_002857.4(PEX19):c.395C>T (p.Thr132Ile)
|
rs770134866
|
|
NM_002857.4(PEX19):c.397C>G (p.Leu133Val)
|
|
|
NM_002857.4(PEX19):c.413A>G (p.Lys138Arg)
|
rs745314708
|
|
NM_002857.4(PEX19):c.419C>T (p.Ala140Val)
|
|
|
NM_002857.4(PEX19):c.41C>T (p.Ala14Val)
|
rs1657957953
|
|
NM_002857.4(PEX19):c.42G>C (p.Ala14=)
|
rs1357331804
|
|
NM_002857.4(PEX19):c.432+15G>C
|
rs1243733740
|
|
NM_002857.4(PEX19):c.432+3G>A
|
|
|
NM_002857.4(PEX19):c.433-10T>C
|
rs2101802831
|
|
NM_002857.4(PEX19):c.433-11G>C
|
rs41265791
|
|
NM_002857.4(PEX19):c.433-15_433-12del
|
|
|
NM_002857.4(PEX19):c.433-9C>T
|
|
|
NM_002857.4(PEX19):c.438C>T (p.Ser146=)
|
|
|
NM_002857.4(PEX19):c.441C>T (p.Ser147=)
|
rs745392627
|
|
NM_002857.4(PEX19):c.446C>T (p.Ser149Leu)
|
|
|
NM_002857.4(PEX19):c.447G>C (p.Ser149=)
|
|
|
NM_002857.4(PEX19):c.45C>G (p.Asp15Glu)
|
rs2101810529
|
|
NM_002857.4(PEX19):c.46A>T (p.Arg16Trp)
|
|
|
NM_002857.4(PEX19):c.474G>C (p.Glu158Asp)
|
|
|
NM_002857.4(PEX19):c.475G>A (p.Gly159Arg)
|
|
|
NM_002857.4(PEX19):c.477G>A (p.Gly159=)
|
|
|
NM_002857.4(PEX19):c.481G>C (p.Gly161Arg)
|
rs2101802695
|
|
NM_002857.4(PEX19):c.483C>T (p.Gly161=)
|
|
|
NM_002857.4(PEX19):c.484A>G (p.Met162Val)
|
|
|
NM_002857.4(PEX19):c.485T>C (p.Met162Thr)
|
|
|
NM_002857.4(PEX19):c.499G>A (p.Gly167Arg)
|
|
|
NM_002857.4(PEX19):c.506G>A (p.Gly169Glu)
|
rs748793476
|
|
NM_002857.4(PEX19):c.513C>T (p.Ile171=)
|
|
|
NM_002857.4(PEX19):c.51A>C (p.Glu17Asp)
|
rs1657957259
|
|
NM_002857.4(PEX19):c.523A>G (p.Met175Val)
|
rs886044114
|
|
NM_002857.4(PEX19):c.524T>C (p.Met175Thr)
|
|
|
NM_002857.4(PEX19):c.526C>T (p.Gln176Ter)
|
|
|
NM_002857.4(PEX19):c.527A>C (p.Gln176Pro)
|
rs1231019046
|
|
NM_002857.4(PEX19):c.530G>A (p.Ser177Asn)
|
|
|
NM_002857.4(PEX19):c.532A>G (p.Ile178Val)
|
rs2101802538
|
|
NM_002857.4(PEX19):c.543C>T (p.Asn181=)
|
|
|
NM_002857.4(PEX19):c.547C>T (p.Leu183Phe)
|
rs1351664822
|
|
NM_002857.4(PEX19):c.563T>C (p.Leu188Pro)
|
|
|
NM_002857.4(PEX19):c.567C>T (p.Tyr189=)
|
rs2101802465
|
|
NM_002857.4(PEX19):c.573A>C (p.Ser191=)
|
|
|
NM_002857.4(PEX19):c.574C>G (p.Leu192Val)
|
|
|
NM_002857.4(PEX19):c.575T>C (p.Leu192Pro)
|
|
|
NM_002857.4(PEX19):c.577A>T (p.Lys193Ter)
|
|
|
NM_002857.4(PEX19):c.582G>A (p.Glu194=)
|
rs1571137550
|
|
NM_002857.4(PEX19):c.594+11T>G
|
rs1657789996
|
|
NM_002857.4(PEX19):c.594+15A>G
|
|
|
NM_002857.4(PEX19):c.594+1G>C
|
|
|
NM_002857.4(PEX19):c.594+9A>G
|
rs1571137524
|
|
NM_002857.4(PEX19):c.595-14CT[2]
|
rs753492350
|
|
NM_002857.4(PEX19):c.595-20C>T
|
|
|
NM_002857.4(PEX19):c.5C>T (p.Ala2Val)
|
rs1307265959
|
|
NM_002857.4(PEX19):c.600A>G (p.Pro200=)
|
|
|
NM_002857.4(PEX19):c.615T>A (p.Ser205Arg)
|
rs2101800172
|
|
NM_002857.4(PEX19):c.617A>G (p.His206Arg)
|
rs761372588
|
|
NM_002857.4(PEX19):c.617A>T (p.His206Leu)
|
rs761372588
|
|
NM_002857.4(PEX19):c.619C>G (p.Arg207Gly)
|
rs367813991
|
|
NM_002857.4(PEX19):c.621G>A (p.Arg207=)
|
rs1657714023
|
|
NM_002857.4(PEX19):c.627T>C (p.Ser209=)
|
|
|
NM_002857.4(PEX19):c.630A>C (p.Leu210=)
|
rs202174805
|
|
NM_002857.4(PEX19):c.630A>G (p.Leu210=)
|
rs202174805
|
|
NM_002857.4(PEX19):c.633T>C (p.Pro211=)
|
|
|
NM_002857.4(PEX19):c.634C>A (p.Pro212Thr)
|
|
|
NM_002857.4(PEX19):c.644T>C (p.Phe215Ser)
|
rs2101800093
|
|
NM_002857.4(PEX19):c.654T>C (p.Tyr218=)
|
|
|
NM_002857.4(PEX19):c.661C>G (p.Gln221Glu)
|
|
|
NM_002857.4(PEX19):c.679A>G (p.Lys227Glu)
|
|
|
NM_002857.4(PEX19):c.68A>C (p.Glu23Ala)
|
|
|
NM_002857.4(PEX19):c.692A>G (p.Gln231Arg)
|
|
|
NM_002857.4(PEX19):c.694T>G (p.Phe232Val)
|
rs2101799984
|
|
NM_002857.4(PEX19):c.699G>T (p.Glu233Asp)
|
|
|
NM_002857.4(PEX19):c.69A>G (p.Glu23=)
|
rs1657956169
|
|
NM_002857.4(PEX19):c.69A>T (p.Glu23Asp)
|
|
|
NM_002857.4(PEX19):c.6C>T (p.Ala2=)
|
|
|
NM_002857.4(PEX19):c.70+18del
|
rs1254590800
|
|
NM_002857.4(PEX19):c.70+2T>G
|
|
|
NM_002857.4(PEX19):c.70+5G>C
|
rs1158588649
|
|
NM_002857.4(PEX19):c.70+7G>T
|
rs758203051
|
|
NM_002857.4(PEX19):c.70+9C>A
|
rs367604409
|
|
NM_002857.4(PEX19):c.70+9C>G
|
rs367604409
|
|
NM_002857.4(PEX19):c.70+9C>T
|
rs367604409
|
|
NM_002857.4(PEX19):c.70+9_70+10insCGCT
|
rs777854895
|
|
NM_002857.4(PEX19):c.703_704delinsAT (p.Glu235Met)
|
rs1557853548
|
|
NM_002857.4(PEX19):c.706A>G (p.Thr236Ala)
|
rs1040267504
|
|
NM_002857.4(PEX19):c.708C>T (p.Thr236=)
|
|
|
NM_002857.4(PEX19):c.71-15C>T
|
|
|
NM_002857.4(PEX19):c.71-15CT[3]
|
rs756418503
|
|
NM_002857.4(PEX19):c.71-16T>C
|
rs2101805960
|
|
NM_002857.4(PEX19):c.713C>A (p.Thr238Lys)
|
|
|
NM_002857.4(PEX19):c.726C>T (p.Thr242=)
|
rs564013133
|
|
NM_002857.4(PEX19):c.740G>A (p.Arg247His)
|
|
|
NM_002857.4(PEX19):c.744T>A (p.Phe248Leu)
|
|
|
NM_002857.4(PEX19):c.744T>G (p.Phe248Leu)
|
rs1473774134
|
|
NM_002857.4(PEX19):c.751G>A (p.Val251Met)
|
|
|
NM_002857.4(PEX19):c.754C>A (p.Leu252Met)
|
|
|
NM_002857.4(PEX19):c.759T>A (p.Asp253Glu)
|
|
|
NM_002857.4(PEX19):c.771+12T>A
|
rs753423401
|
|
NM_002857.4(PEX19):c.771+5G>A
|
rs2101799795
|
|
NM_002857.4(PEX19):c.772-12C>T
|
|
|
NM_002857.4(PEX19):c.772-4C>T
|
|
|
NM_002857.4(PEX19):c.772-9del
|
rs2101799481
|
|
NM_002857.4(PEX19):c.774A>G (p.Leu258=)
|
rs1657698317
|
|
NM_002857.4(PEX19):c.779A>G (p.Asp260Gly)
|
|
|
NM_002857.4(PEX19):c.784G>A (p.Gly262Ser)
|
|
|
NM_002857.4(PEX19):c.788A>G (p.His263Arg)
|
rs762620480
|
|
NM_002857.4(PEX19):c.808G>A (p.Gly270Arg)
|
rs1657696746
|
|
NM_002857.4(PEX19):c.816+13T>A
|
rs1432895271
|
|
NM_002857.4(PEX19):c.816+15T>C
|
rs1318227463
|
|
NM_002857.4(PEX19):c.816+20C>T
|
|
|
NM_002857.4(PEX19):c.817-13A>T
|
rs1657690599
|
|
NM_002857.4(PEX19):c.817-18C>T
|
|
|
NM_002857.4(PEX19):c.817-19C>T
|
rs1284493350
|
|
NM_002857.4(PEX19):c.817-6C>T
|
|
|
NM_002857.4(PEX19):c.817-9C>A
|
rs2101799148
|
|
NM_002857.4(PEX19):c.817C>A (p.Pro273Thr)
|
rs760797797
|
|
NM_002857.4(PEX19):c.825C>T (p.Gly275=)
|
|
|
NM_002857.4(PEX19):c.842A>G (p.Asp281Gly)
|
rs2101799102
|
|
NM_002857.4(PEX19):c.843T>C (p.Asp281=)
|
|
|
NM_002857.4(PEX19):c.854T>C (p.Leu285Pro)
|
|
|
NM_002857.4(PEX19):c.857C>T (p.Ser286Leu)
|
rs149976198
|
|
NM_002857.4(PEX19):c.859G>T (p.Gly287Cys)
|
|
|
NM_002857.4(PEX19):c.869G>C (p.Gly290Ala)
|
|
|
NM_002857.4(PEX19):c.86del (p.Phe29fs)
|
|
|
NM_002857.4(PEX19):c.878G>A (p.Gly293Asp)
|
|
|
NM_002857.4(PEX19):c.883C>A (p.Gln295Lys)
|
|
|
NM_002857.4(PEX19):c.886T>C (p.Cys296Arg)
|
rs1557853173
|
|
NM_002857.4(PEX19):c.887G>A (p.Cys296Tyr)
|
rs1326449698
|
|
NM_002857.4(PEX19):c.896T>C (p.Met299Thr)
|
rs2101798984
|
|
NM_002857.4(PEX19):c.94G>C (p.Ala32Pro)
|
|
|
NM_002857.4(PEX19):c.94G>T (p.Ala32Ser)
|
|
|
NM_002857.4(PEX19):c.98A>G (p.Lys33Arg)
|
|
|
NM_002857.4(PEX19):c.9del (p.Ala4fs)
|
|
|