NM_001386125.1(OBSCN):c.7443T>G (p.Asp2481Glu)
|
rs1188721
|
0.73749
|
NM_001386125.1(OBSCN):c.4272T>C (p.Ala1424=)
|
rs7517108
|
0.72293
|
NM_001386125.1(OBSCN):c.7471T>C (p.Phe2491Leu)
|
rs1188722
|
0.70638
|
NM_001386125.1(OBSCN):c.4200T>C (p.Ala1400=)
|
rs7517088
|
0.68530
|
NM_001386125.1(OBSCN):c.3861A>G (p.Thr1287=)
|
rs2487384
|
0.68509
|
NM_001386125.1(OBSCN):c.-3C>G
|
rs11804508
|
0.64782
|
NM_001386125.1(OBSCN):c.282T>C (p.Ala94=)
|
rs55971985
|
0.64092
|
NM_001386125.1(OBSCN):c.1431A>G (p.Leu477=)
|
rs1620111
|
0.63514
|
NM_001386125.1(OBSCN):c.20542C>G (p.Gln6848Glu)
|
rs1188710
|
0.55228
|
NM_001386125.1(OBSCN):c.20404-13G>A
|
rs1150916
|
0.41642
|
NM_001386125.1(OBSCN):c.14797+18C>T
|
rs3795795
|
0.19406
|
NM_001386125.1(OBSCN):c.2967C>T (p.Arg989=)
|
rs1771481
|
0.03322
|
NM_001386125.1(OBSCN):c.3990C>T (p.Cys1330=)
|
rs75801409
|
0.01700
|
NM_001386125.1(OBSCN):c.2271G>A (p.Ser757=)
|
rs116554705
|
0.01691
|
NM_001386125.1(OBSCN):c.12168G>C (p.Lys4056Asn)
|
rs116357930
|
0.01650
|
NM_001386125.1(OBSCN):c.11836G>A (p.Glu3946Lys)
|
rs79902706
|
0.01643
|
NM_001386125.1(OBSCN):c.2427C>T (p.Ala809=)
|
rs112729914
|
0.01564
|
NM_001386125.1(OBSCN):c.3108G>A (p.Thr1036=)
|
rs77489841
|
0.01533
|
NM_001386125.1(OBSCN):c.20934C>T (p.Ala6978=)
|
rs1188715
|
0.01505
|
NM_001386125.1(OBSCN):c.12108G>A (p.Ser4036=)
|
rs113015177
|
0.01391
|
NM_001386125.1(OBSCN):c.10545G>A (p.Ser3515=)
|
rs116080935
|
0.01374
|
NM_001386125.1(OBSCN):c.26286C>T (p.Leu8762=)
|
rs61743077
|
0.01368
|
NM_001386125.1(OBSCN):c.4619T>C (p.Val1540Ala)
|
rs112216954
|
0.01361
|
NM_001386125.1(OBSCN):c.8706G>A (p.Arg2902=)
|
rs115859729
|
0.01312
|
NM_001386125.1(OBSCN):c.144G>A (p.Gln48=)
|
rs114375717
|
0.01168
|
NM_001386125.1(OBSCN):c.7865C>T (p.Ser2622Phe)
|
rs112265836
|
0.01153
|
NM_001386125.1(OBSCN):c.24228A>G (p.Ser8076=)
|
rs146690906
|
0.01124
|
NM_001386125.1(OBSCN):c.8610C>G (p.Thr2870=)
|
rs185248802
|
0.00977
|
NM_001386125.1(OBSCN):c.16543C>T (p.Arg5515Cys)
|
rs113376653
|
0.00964
|
NM_001386125.1(OBSCN):c.9803C>T (p.Ala3268Val)
|
rs113447751
|
0.00929
|
NM_001386125.1(OBSCN):c.20233C>T (p.Arg6745Cys)
|
rs56065114
|
0.00900
|
NM_001386125.1(OBSCN):c.11521G>A (p.Gly3841Arg)
|
rs56271332
|
0.00814
|
NM_001386125.1(OBSCN):c.16699C>T (p.Leu5567=)
|
rs116642293
|
0.00811
|
NM_001386125.1(OBSCN):c.11984C>T (p.Pro3995Leu)
|
rs62621834
|
0.00810
|
NM_001386125.1(OBSCN):c.21533-1980G>A
|
rs114053815
|
0.00806
|
NM_001386125.1(OBSCN):c.19980T>A (p.Ser6660Arg)
|
rs144372515
|
0.00796
|
NM_001386125.1(OBSCN):c.21533-2165C>T
|
rs145544878
|
0.00776
|
NM_001386125.1(OBSCN):c.21533-1833G>A
|
rs114510676
|
0.00756
|
NM_001386125.1(OBSCN):c.21533-2586C>T
|
rs367920745
|
0.00728
|
NM_001386125.1(OBSCN):c.6447C>T (p.His2149=)
|
rs138055037
|
0.00728
|
NM_001386125.1(OBSCN):c.16233G>A (p.Thr5411=)
|
rs372827129
|
0.00726
|
NM_001386125.1(OBSCN):c.3141G>A (p.Ala1047=)
|
rs140550965
|
0.00725
|
NM_001386125.1(OBSCN):c.7450T>C (p.Trp2484Arg)
|
rs62621832
|
0.00725
|
NM_001386125.1(OBSCN):c.2528G>A (p.Arg843His)
|
rs141921462
|
0.00724
|
NM_001386125.1(OBSCN):c.10472T>G (p.Val3491Gly)
|
rs202022683
|
0.00722
|
NM_001386125.1(OBSCN):c.17330T>C (p.Leu5777Pro)
|
rs188302055
|
0.00683
|
NM_001386125.1(OBSCN):c.3356A>G (p.Lys1119Arg)
|
rs55760713
|
0.00655
|
NM_001386125.1(OBSCN):c.7615C>G (p.Leu2539Val)
|
rs201269256
|
0.00628
|
NM_001386125.1(OBSCN):c.24573G>A (p.Ser8191=)
|
rs62640372
|
0.00615
|
NM_001386125.1(OBSCN):c.16321G>A (p.Ala5441Thr)
|
rs116557268
|
0.00606
|
NM_001386125.1(OBSCN):c.4017T>C (p.Phe1339=)
|
rs75365769
|
0.00605
|
NM_001386125.1(OBSCN):c.4020A>C (p.Gln1340His)
|
rs199523598
|
0.00605
|
NM_001386125.1(OBSCN):c.15666G>A (p.Gln5222=)
|
rs111731636
|
0.00602
|
NM_001386125.1(OBSCN):c.6403C>T (p.Arg2135Cys)
|
rs114195142
|
0.00596
|
NM_001386125.1(OBSCN):c.18698G>A (p.Arg6233His)
|
rs56015866
|
0.00583
|
NM_001386125.1(OBSCN):c.7462G>T (p.Gly2488Cys)
|
rs74623201
|
0.00578
|
NM_001386125.1(OBSCN):c.16878C>T (p.Phe5626=)
|
rs3795802
|
0.00546
|
NM_001386125.1(OBSCN):c.20169C>T (p.Asp6723=)
|
rs142093978
|
0.00531
|
NM_001386125.1(OBSCN):c.11559G>A (p.Val3853=)
|
rs111402242
|
0.00529
|
NM_001386125.1(OBSCN):c.4542C>T (p.Cys1514=)
|
rs117627593
|
0.00475
|
NM_001386125.1(OBSCN):c.2052C>T (p.Phe684=)
|
rs112046759
|
0.00462
|
NM_001386125.1(OBSCN):c.26662T>C (p.Cys8888Arg)
|
rs114456717
|
0.00456
|
NM_001386125.1(OBSCN):c.5262C>T (p.Asp1754=)
|
rs142188902
|
0.00434
|
NM_001386125.1(OBSCN):c.17918G>A (p.Arg5973Gln)
|
rs56249237
|
0.00428
|
NM_001386125.1(OBSCN):c.10722T>C (p.His3574=)
|
rs75962730
|
0.00422
|
NM_001386125.1(OBSCN):c.1176C>T (p.Arg392=)
|
rs185717159
|
0.00405
|
NM_001386125.1(OBSCN):c.20528A>G (p.Tyr6843Cys)
|
rs200385051
|
0.00398
|
NM_001386125.1(OBSCN):c.24121C>A (p.Pro8041Thr)
|
rs111553305
|
0.00383
|
NM_001386125.1(OBSCN):c.25748C>T (p.Thr8583Met)
|
rs184394044
|
0.00364
|
NM_001386125.1(OBSCN):c.18465C>T (p.Arg6155=)
|
rs114969585
|
0.00356
|
NM_001386125.1(OBSCN):c.12634T>C (p.Ser4212Pro)
|
rs147471011
|
0.00341
|
NM_001386125.1(OBSCN):c.8625C>T (p.Thr2875=)
|
rs12030528
|
0.00336
|
NM_001386125.1(OBSCN):c.21533-1917G>A
|
rs141233508
|
0.00326
|
NM_001386125.1(OBSCN):c.9424G>A (p.Ala3142Thr)
|
rs191370080
|
0.00326
|
NM_001386125.1(OBSCN):c.11538G>T (p.Leu3846=)
|
rs114473169
|
0.00324
|
NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr)
|
rs191837710
|
0.00322
|
NM_001386125.1(OBSCN):c.23271C>T (p.Leu7757=)
|
rs372254901
|
0.00318
|
NM_001386125.1(OBSCN):c.17179C>T (p.Arg5727Cys)
|
rs186194072
|
0.00312
|
NM_001386125.1(OBSCN):c.11291C>T (p.Ala3764Val)
|
rs55946300
|
0.00308
|
NM_001386125.1(OBSCN):c.16397G>A (p.Arg5466His)
|
rs193004966
|
0.00307
|
NM_001386125.1(OBSCN):c.21533-2364G>A
|
rs117551232
|
0.00302
|
NM_001386125.1(OBSCN):c.8617A>T (p.Thr2873Ser)
|
rs180753915
|
0.00299
|
NM_001386125.1(OBSCN):c.6407G>A (p.Arg2136His)
|
rs28603121
|
0.00294
|
NM_001386125.1(OBSCN):c.4490G>A (p.Arg1497Gln)
|
rs199874295
|
0.00291
|
NM_001386125.1(OBSCN):c.3162C>T (p.Cys1054=)
|
rs12040506
|
0.00289
|
NM_001386125.1(OBSCN):c.16333C>G (p.His5445Asp)
|
rs188287808
|
0.00261
|
NM_001386125.1(OBSCN):c.11031G>A (p.Pro3677=)
|
rs79290523
|
0.00256
|
NM_001386125.1(OBSCN):c.24426C>T (p.Tyr8142=)
|
rs36119328
|
0.00220
|
NM_001386125.1(OBSCN):c.9957C>T (p.Leu3319=)
|
rs114058903
|
0.00212
|
NM_001386125.1(OBSCN):c.2342G>A (p.Arg781His)
|
rs144514297
|
0.00208
|
NM_001386125.1(OBSCN):c.11457C>T (p.Pro3819=)
|
rs56367754
|
0.00201
|
NM_001386125.1(OBSCN):c.9819G>A (p.Val3273=)
|
rs112403932
|
0.00184
|
NM_001386125.1(OBSCN):c.21214C>G (p.Arg7072Gly)
|
rs142615706
|
0.00172
|
NM_001386125.1(OBSCN):c.2328C>T (p.Tyr776=)
|
rs369447003
|
0.00172
|
NM_001386125.1(OBSCN):c.9842G>A (p.Arg3281Gln)
|
rs188024384
|
0.00162
|
NM_001386125.1(OBSCN):c.8343C>T (p.His2781=)
|
rs376684253
|
0.00150
|
NM_001386125.1(OBSCN):c.23303C>A (p.Pro7768His)
|
rs201092597
|
0.00149
|
NM_001386125.1(OBSCN):c.15509G>A (p.Arg5170His)
|
rs56306215
|
0.00140
|
NM_001386125.1(OBSCN):c.11061C>T (p.Phe3687=)
|
rs369584483
|
0.00134
|
NM_001386125.1(OBSCN):c.15006G>A (p.Ala5002=)
|
rs117625801
|
0.00133
|
NM_001386125.1(OBSCN):c.23449G>A (p.Ala7817Thr)
|
rs370128535
|
0.00130
|
NM_001386125.1(OBSCN):c.727G>C (p.Gly243Arg)
|
rs199979779
|
0.00130
|
NM_001386125.1(OBSCN):c.20115C>T (p.Gly6705=)
|
rs140147625
|
0.00124
|
NM_001386125.1(OBSCN):c.7302C>T (p.Cys2434=)
|
rs369558704
|
0.00124
|
NM_001386125.1(OBSCN):c.3288C>T (p.Cys1096=)
|
rs373806868
|
0.00120
|
NM_001386125.1(OBSCN):c.4393G>A (p.Glu1465Lys)
|
rs201854668
|
0.00116
|
NM_001386125.1(OBSCN):c.11853C>T (p.Cys3951=)
|
rs200826459
|
0.00114
|
NM_001386125.1(OBSCN):c.16361A>T (p.Gln5454Leu)
|
rs116329268
|
0.00108
|
NM_001386125.1(OBSCN):c.24417C>T (p.Arg8139=)
|
rs499309
|
0.00105
|
NM_001386125.1(OBSCN):c.16425C>T (p.Thr5475=)
|
rs373494343
|
0.00102
|
NM_001386125.1(OBSCN):c.18062C>T (p.Ala6021Val)
|
rs56359770
|
0.00093
|
NM_001386125.1(OBSCN):c.21303C>T (p.Asp7101=)
|
rs56187628
|
0.00092
|
NM_001386125.1(OBSCN):c.18705C>A (p.Ala6235=)
|
rs56025664
|
0.00089
|
NM_001386125.1(OBSCN):c.23265C>T (p.Asn7755=)
|
rs373415899
|
0.00088
|
NM_001386125.1(OBSCN):c.24189T>C (p.Pro8063=)
|
rs190289766
|
0.00085
|
NM_001386125.1(OBSCN):c.24325A>T (p.Thr8109Ser)
|
rs186684024
|
0.00085
|
NM_001386125.1(OBSCN):c.17174C>T (p.Ser5725Leu)
|
rs181568906
|
0.00083
|
NM_001386125.1(OBSCN):c.24681A>G (p.Pro8227=)
|
rs184132520
|
0.00080
|
NM_001386125.1(OBSCN):c.17939C>T (p.Pro5980Leu)
|
rs182318410
|
0.00079
|
NM_001386125.1(OBSCN):c.26669G>A (p.Arg8890Gln)
|
rs200919408
|
0.00079
|
NM_001386125.1(OBSCN):c.16015A>G (p.Thr5339Ala)
|
rs183406337
|
0.00078
|
NM_001386125.1(OBSCN):c.20502G>A (p.Lys6834=)
|
rs191140144
|
0.00078
|
NM_001386125.1(OBSCN):c.22509C>T (p.Ser7503=)
|
rs369407921
|
0.00078
|
NM_001386125.1(OBSCN):c.22532A>T (p.Tyr7511Phe)
|
rs200436705
|
0.00077
|
NM_001386125.1(OBSCN):c.16853A>C (p.Glu5618Ala)
|
rs200399314
|
0.00076
|
NM_001386125.1(OBSCN):c.9672G>A (p.Val3224=)
|
rs3795784
|
0.00074
|
NM_001386125.1(OBSCN):c.9065A>G (p.Asn3022Ser)
|
rs113202278
|
0.00072
|
NM_001386125.1(OBSCN):c.1899C>T (p.Ser633=)
|
rs193175485
|
0.00069
|
NM_001386125.1(OBSCN):c.16251C>T (p.Pro5417=)
|
rs117435683
|
0.00056
|
NM_001386125.1(OBSCN):c.9040G>C (p.Asp3014His)
|
rs202052558
|
0.00056
|
NM_001386125.1(OBSCN):c.24984A>G (p.Ser8328=)
|
rs370699889
|
0.00046
|
NM_001386125.1(OBSCN):c.20378T>C (p.Val6793Ala)
|
rs200917956
|
0.00038
|
NM_001386125.1(OBSCN):c.15217G>A (p.Glu5073Lys)
|
rs201877667
|
0.00032
|
NM_001386125.1(OBSCN):c.19850C>T (p.Ala6617Val)
|
rs191098985
|
0.00032
|
NM_001386125.1(OBSCN):c.23350C>T (p.Arg7784Trp)
|
rs369885852
|
0.00031
|
NM_001386125.1(OBSCN):c.2965C>T (p.Arg989Cys)
|
rs185552992
|
0.00028
|
NM_001386125.1(OBSCN):c.6913G>A (p.Val2305Met)
|
rs545316651
|
0.00028
|
NM_001386125.1(OBSCN):c.10115C>T (p.Ala3372Val)
|
rs199933567
|
0.00026
|
NM_001386125.1(OBSCN):c.20021G>A (p.Ser6674Asn)
|
rs376194851
|
0.00019
|
NM_001386125.1(OBSCN):c.12345C>T (p.Leu4115=)
|
rs527943941
|
0.00018
|
NM_001386125.1(OBSCN):c.16503A>G (p.Ala5501=)
|
rs370547153
|
0.00016
|
NM_001386125.1(OBSCN):c.3099A>G (p.Thr1033=)
|
rs202097101
|
0.00013
|
NM_001386125.1(OBSCN):c.15633G>A (p.Glu5211=)
|
rs529583811
|
0.00006
|
NM_001386125.1(OBSCN):c.4797G>A (p.Ala1599=)
|
rs372472787
|
0.00004
|
NM_001386125.1(OBSCN):c.18006C>T (p.Pro6002=)
|
rs534386095
|
0.00002
|
NM_001386125.1(OBSCN):c.8418A>G (p.Gln2806=)
|
rs542843632
|
0.00001
|
GRCh37/hg19 1q42.13(chr1:228393929-228494790)x1
|
|
|
GRCh37/hg19 1q42.13(chr1:228503579-228509475)x1
|
|
|
GRCh37/hg19 1q42.13(chr1:228557711-228560317)x3
|
|
|
NM_001386125.1(OBSCN):c.10633G>A (p.Val3545Met)
|
|
|
NM_001386125.1(OBSCN):c.11451G>A (p.Ala3817=)
|
|
|
NM_001386125.1(OBSCN):c.11949A>G (p.Thr3983=)
|
|
|
NM_001386125.1(OBSCN):c.1258+6CGGGGCGGGGCA[3]
|
|
|
NM_001386125.1(OBSCN):c.14892G>A (p.Ala4964=)
|
|
|
NM_001386125.1(OBSCN):c.1505A>G (p.Gln502Arg)
|
rs1771487
|
|
NM_001386125.1(OBSCN):c.16013A>G (p.His5338Arg)
|
|
|
NM_001386125.1(OBSCN):c.16219T>C (p.Cys5407Arg)
|
|
|
NM_001386125.1(OBSCN):c.16339G>A (p.Ala5447Thr)
|
|
|
NM_001386125.1(OBSCN):c.16432+18_16432+19insCCCT
|
|
|
NM_001386125.1(OBSCN):c.16472G>A (p.Arg5491His)
|
|
|
NM_001386125.1(OBSCN):c.16796C>G (p.Ser5599Cys)
|
rs1188729
|
|
NM_001386125.1(OBSCN):c.16827T>C (p.Gly5609=)
|
|
|
NM_001386125.1(OBSCN):c.16855C>T (p.Arg5619Cys)
|
|
|
NM_001386125.1(OBSCN):c.1692C>T (p.His564=)
|
|
|
NM_001386125.1(OBSCN):c.17373+12del
|
rs111916885
|
|
NM_001386125.1(OBSCN):c.17438G>A (p.Arg5813His)
|
|
|
NM_001386125.1(OBSCN):c.17756A>G (p.Asp5919Gly)
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NM_001386125.1(OBSCN):c.17759G>A (p.Arg5920His)
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NM_001386125.1(OBSCN):c.18010G>T (p.Asp6004Tyr)
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NM_001386125.1(OBSCN):c.18456C>T (p.Gly6152=)
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NM_001386125.1(OBSCN):c.19271C>T (p.Ser6424Leu)
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NM_001386125.1(OBSCN):c.19276+11dup
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NM_001386125.1(OBSCN):c.20055C>A (p.His6685Gln)
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NM_001386125.1(OBSCN):c.20067T>C (p.Ala6689=)
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NM_001386125.1(OBSCN):c.20728-9C>A
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NM_001386125.1(OBSCN):c.21282G>T (p.Pro7094=)
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rs372931114
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NM_001386125.1(OBSCN):c.21291-40G>T
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NM_001386125.1(OBSCN):c.2143G>A (p.Glu715Lys)
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NM_001386125.1(OBSCN):c.21533-2080G>A
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NM_001386125.1(OBSCN):c.21533-2376C>T
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NM_001386125.1(OBSCN):c.21533-2508C>T
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NM_001386125.1(OBSCN):c.21533-2783C>G
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NM_001386125.1(OBSCN):c.21533-355dup
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NM_001386125.1(OBSCN):c.21682C>T (p.Pro7228Ser)
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NM_001386125.1(OBSCN):c.21725G>A (p.Arg7242Lys)
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NM_001386125.1(OBSCN):c.22472G>C (p.Arg7491Pro)
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NM_001386125.1(OBSCN):c.22639-20C>T
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NM_001386125.1(OBSCN):c.22721C>G (p.Ala7574Gly)
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NM_001386125.1(OBSCN):c.23056G>A (p.Glu7686Lys)
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NM_001386125.1(OBSCN):c.23199C>T (p.Leu7733=)
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NM_001386125.1(OBSCN):c.23203G>A (p.Val7735Ile)
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NM_001386125.1(OBSCN):c.23241C>T (p.Ser7747=)
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NM_001386125.1(OBSCN):c.23281G>C (p.Ala7761Pro)
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NM_001386125.1(OBSCN):c.23385_23386del (p.Ala7795_Ser7796insTer)
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NM_001386125.1(OBSCN):c.23617G>A (p.Glu7873Lys)
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NM_001386125.1(OBSCN):c.23691C>T (p.Ala7897=)
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NM_001386125.1(OBSCN):c.23783C>A (p.Thr7928Asn)
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NM_001386125.1(OBSCN):c.23838del (p.Ser7947fs)
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NM_001386125.1(OBSCN):c.23842G>A (p.Gly7948Arg)
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NM_001386125.1(OBSCN):c.24046G>A (p.Gly8016Ser)
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NM_001386125.1(OBSCN):c.24386C>T (p.Ala8129Val)
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NM_001386125.1(OBSCN):c.2444C>T (p.Ala815Val)
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NM_001386125.1(OBSCN):c.24531A>G (p.Ser8177=)
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NM_001386125.1(OBSCN):c.25092T>C (p.Asp8364=)
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NM_001386125.1(OBSCN):c.25367-1G>C
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NM_001386125.1(OBSCN):c.25373C>T (p.Ala8458Val)
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NM_001386125.1(OBSCN):c.25609G>A (p.Val8537Met)
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NM_001386125.1(OBSCN):c.25834G>A (p.Glu8612Lys)
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NM_001386125.1(OBSCN):c.25839G>A (p.Glu8613=)
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NM_001386125.1(OBSCN):c.25852C>T (p.Arg8618Trp)
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NM_001386125.1(OBSCN):c.25935A>G (p.Gln8645=)
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NM_001386125.1(OBSCN):c.25956G>A (p.Gly8652=)
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NM_001386125.1(OBSCN):c.26042G>A (p.Arg8681His)
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NM_001386125.1(OBSCN):c.26170G>A (p.Glu8724Lys)
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NM_001386125.1(OBSCN):c.2653+8C>T
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NM_001386125.1(OBSCN):c.26755C>T (p.His8919Tyr)
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NM_001386125.1(OBSCN):c.3532G>T (p.Ala1178Ser)
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rs117147433
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NM_001386125.1(OBSCN):c.4799T>A (p.Val1600Asp)
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NM_001386125.1(OBSCN):c.496G>A (p.Ala166Thr)
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NM_001386125.1(OBSCN):c.509G>C (p.Arg170Pro)
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NM_001386125.1(OBSCN):c.5123G>A (p.Arg1708His)
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NM_001386125.1(OBSCN):c.5734G>C (p.Asp1912His)
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NM_001386125.1(OBSCN):c.6109G>A (p.Asp2037Asn)
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NM_001386125.1(OBSCN):c.6296G>A (p.Arg2099His)
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NM_001386125.1(OBSCN):c.7726-19C>G
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NM_001386125.1(OBSCN):c.8103T>G (p.Phe2701Leu)
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NM_001386125.1(OBSCN):c.8873G>A (p.Arg2958Gln)
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NM_001386125.1(OBSCN):c.8997G>A (p.Thr2999=)
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NM_001386125.1(OBSCN):c.9231G>A (p.Val3077=)
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NM_001386125.1(OBSCN):c.9712T>G (p.Phe3238Val)
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NM_001386125.1(OBSCN):c.9721C>T (p.Arg3241Trp)
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NM_001386125.1(OBSCN):c.9754_9755delinsTT (p.Arg3252Leu)
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