NM_133642.5(LARGE1):c.-82-269A>G
|
rs238859
|
0.90462
|
NM_133642.5(LARGE1):c.-83+62952T>C
|
rs1009383
|
0.81885
|
NM_133642.5(LARGE1):c.-83+63438C>T
|
rs2277840
|
0.81847
|
NM_133642.5(LARGE1):c.615+191A>G
|
rs695504
|
0.59717
|
NM_133642.5(LARGE1):c.787+158T>C
|
rs713795
|
0.39970
|
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
NM_133642.5(LARGE1):c.1288-214G>A
|
rs2285105
|
0.29048
|
NM_133642.5(LARGE1):c.1132-208G>A
|
rs2285106
|
0.28141
|
NM_133642.5(LARGE1):c.615+246A>G
|
rs2239746
|
0.26150
|
NM_133642.5(LARGE1):c.615+139G>C
|
rs695258
|
0.26121
|
NM_133642.5(LARGE1):c.788-330A>C
|
rs2280978
|
0.14711
|
NM_133642.5(LARGE1):c.1132-153C>T
|
rs2157198
|
0.13774
|
NM_133642.5(LARGE1):c.1132-175A>G
|
rs2157199
|
0.13762
|
NM_133642.5(LARGE1):c.1132-190G>T
|
rs2157200
|
0.13752
|
NM_133642.5(LARGE1):c.893-235T>G
|
rs76972817
|
0.11531
|
NM_133642.5(LARGE1):c.408+144G>A
|
rs5994783
|
0.11500
|
NM_133642.5(LARGE1):c.787+286G>T
|
rs5999013
|
0.11071
|
NM_133642.5(LARGE1):c.1287+105G>C
|
rs16992166
|
0.10729
|
NM_133642.5(LARGE1):c.1006-195G>A
|
rs16992223
|
0.09734
|
NM_133642.5(LARGE1):c.1131+258C>G
|
rs11912366
|
0.09699
|
NM_133642.5(LARGE1):c.1731-91C>G
|
rs1018365
|
0.09684
|
NM_133642.5(LARGE1):c.408+247G>A
|
rs9621740
|
0.09675
|
NM_133642.5(LARGE1):c.1877+183C>T
|
rs17795326
|
0.08458
|
NM_133642.5(LARGE1):c.409-65del
|
rs68171942
|
0.07537
|
NM_133642.5(LARGE1):c.1730+67A>G
|
rs78116727
|
0.06015
|
NM_133642.5(LARGE1):c.787+120G>C
|
rs3213513
|
0.05608
|
NM_133642.5(LARGE1):c.1730+286A>G
|
rs73166234
|
0.05185
|
NM_133642.5(LARGE1):c.788-181G>A
|
rs73166278
|
0.04905
|
NM_133642.5(LARGE1):c.2074-69C>T
|
rs41282597
|
0.04735
|
NM_133642.5(LARGE1):c.2073+152G>A
|
rs2075921
|
0.04155
|
NM_133642.5(LARGE1):c.892+79T>G
|
rs16992336
|
0.04142
|
NM_133642.5(LARGE1):c.1452-225C>G
|
rs79665582
|
0.04130
|
NM_133642.5(LARGE1):c.1132-318A>G
|
rs11913784
|
0.04109
|
NM_133642.5(LARGE1):c.1452-254A>C
|
rs75528068
|
0.03710
|
NM_133642.5(LARGE1):c.1731-24T>C
|
rs73399532
|
0.03540
|
NM_133642.5(LARGE1):c.*154C>A
|
rs73399512
|
0.03456
|
NM_133642.5(LARGE1):c.*207G>A
|
rs16992036
|
0.03294
|
NM_133642.5(LARGE1):c.1452-209T>C
|
rs79121173
|
0.02741
|
NM_133642.5(LARGE1):c.1730+118G>A
|
rs80188851
|
0.02730
|
NM_133642.5(LARGE1):c.1730+239G>A
|
rs75729506
|
0.02621
|
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)
|
rs34292743
|
0.02604
|
NM_133642.5(LARGE1):c.1452-293A>G
|
rs1555007
|
0.02310
|
NM_133642.5(LARGE1):c.1451+197T>C
|
rs151150001
|
0.02220
|
NM_133642.5(LARGE1):c.1731-87G>T
|
rs11913298
|
0.02191
|
NM_133642.5(LARGE1):c.1006-280A>G
|
rs75119296
|
0.02053
|
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)
|
rs73399520
|
0.01853
|
NM_133642.5(LARGE1):c.408+269G>A
|
rs16992701
|
0.01756
|
NM_133642.5(LARGE1):c.788-65A>G
|
rs80069366
|
0.01526
|
NM_133642.5(LARGE1):c.1131+221C>T
|
rs16992221
|
0.01412
|
NM_133642.5(LARGE1):c.1288-125G>A
|
rs117098200
|
0.01356
|
NM_133642.5(LARGE1):c.2074-265G>A
|
rs16992044
|
0.01297
|
NM_133642.5(LARGE1):c.491+204G>A
|
rs117818422
|
0.01119
|
NM_133642.5(LARGE1):c.2074-98G>C
|
rs41282599
|
0.01097
|
NM_133642.5(LARGE1):c.1005+282G>A
|
rs116177817
|
0.01071
|
NM_133642.5(LARGE1):c.1131+110G>T
|
rs78374444
|
0.01046
|
NM_133642.5(LARGE1):c.1287+146C>T
|
rs138816517
|
0.00980
|
NM_133642.5(LARGE1):c.1452-226_1452-225insGATATCA
|
rs1569034184
|
0.00933
|
NM_133642.5(LARGE1):c.1877+99C>T
|
rs79668268
|
0.00826
|
NM_133642.5(LARGE1):c.1451+38C>T
|
rs80016718
|
0.00792
|
NM_133642.5(LARGE1):c.1287+56A>G
|
rs112252346
|
0.00774
|
NM_133642.5(LARGE1):c.1131+58C>T
|
rs144087511
|
0.00746
|
NM_133642.5(LARGE1):c.-31G>A
|
rs117199378
|
0.00694
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_133642.5(LARGE1):c.-83+187C>T
|
rs77908284
|
0.00605
|
NM_133642.5(LARGE1):c.1005+176C>T
|
rs73882212
|
0.00597
|
NM_133642.5(LARGE1):c.788-29A>G
|
rs147579402
|
0.00569
|
NM_133642.5(LARGE1):c.1005+98G>A
|
rs2235151
|
0.00503
|
NM_133642.5(LARGE1):c.892+50C>T
|
rs62225294
|
0.00471
|
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)
|
rs34642406
|
0.00430
|
NM_133642.5(LARGE1):c.-83+63134A>G
|
rs148432069
|
0.00374
|
NM_133642.5(LARGE1):c.1451+273A>G
|
rs190325661
|
0.00354
|
NM_133642.5(LARGE1):c.408+42C>T
|
rs183384695
|
0.00330
|
NM_133642.5(LARGE1):c.616-304T>G
|
rs182874546
|
0.00227
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
NM_133642.5(LARGE1):c.210C>T (p.Arg70=)
|
rs145048151
|
0.00220
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
NM_133642.5(LARGE1):c.408+8G>A
|
rs141818070
|
0.00103
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00100
|
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=)
|
rs146552975
|
0.00092
|
NM_133642.5(LARGE1):c.2001C>T (p.Cys667=)
|
rs116734942
|
0.00081
|
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)
|
rs141089495
|
0.00070
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
NM_133642.5(LARGE1):c.535G>A (p.Glu179Lys)
|
rs370128137
|
0.00026
|
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp)
|
rs142135345
|
0.00025
|
NM_133642.5(LARGE1):c.1878-11G>T
|
rs200819807
|
0.00025
|
NM_133642.5(LARGE1):c.584G>A (p.Arg195His)
|
rs147597912
|
0.00017
|
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met)
|
rs368043810
|
0.00016
|
NM_133642.5(LARGE1):c.179G>A (p.Arg60Gln)
|
rs147620818
|
0.00014
|
NM_133642.5(LARGE1):c.1154A>G (p.Lys385Arg)
|
rs767519400
|
0.00013
|
NM_133642.5(LARGE1):c.1577G>A (p.Arg526His)
|
rs536420427
|
0.00013
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
NM_133642.5(LARGE1):c.1645G>A (p.Val549Met)
|
rs149646216
|
0.00011
|
NM_133642.5(LARGE1):c.2256C>T (p.Ala752=)
|
rs114246562
|
0.00011
|
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile)
|
rs138938225
|
0.00011
|
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=)
|
rs369773678
|
0.00010
|
NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys)
|
rs146078928
|
0.00010
|
NM_133642.5(LARGE1):c.478G>A (p.Val160Ile)
|
rs775539988
|
0.00010
|
NM_133642.5(LARGE1):c.796G>C (p.Val266Leu)
|
rs145594612
|
0.00010
|
NM_133642.5(LARGE1):c.432C>T (p.Cys144=)
|
rs201977889
|
0.00009
|
NM_133642.5(LARGE1):c.857G>A (p.Arg286His)
|
rs200035534
|
0.00007
|
NM_133642.5(LARGE1):c.118G>A (p.Val40Met)
|
rs188675457
|
0.00006
|
NM_133642.5(LARGE1):c.131C>T (p.Pro44Leu)
|
rs143437080
|
0.00006
|
NM_133642.5(LARGE1):c.1584C>T (p.Asn528=)
|
rs113492643
|
0.00006
|
NM_133642.5(LARGE1):c.2255C>G (p.Ala752Gly)
|
rs200024875
|
0.00006
|
NM_133642.5(LARGE1):c.252C>T (p.Ser84=)
|
rs56202589
|
0.00006
|
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu)
|
rs149747266
|
0.00006
|
NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr)
|
rs776954687
|
0.00005
|
NM_133642.5(LARGE1):c.1116C>T (p.Asp372=)
|
rs398124182
|
0.00004
|
NM_133642.5(LARGE1):c.1287+11C>T
|
rs398124183
|
0.00004
|
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=)
|
rs561439887
|
0.00004
|
NM_133642.5(LARGE1):c.1349G>A (p.Arg450His)
|
rs371071263
|
0.00004
|
NM_133642.5(LARGE1):c.1413C>A (p.Ser471Arg)
|
rs376160270
|
0.00004
|
NM_133642.5(LARGE1):c.2257G>A (p.Glu753Lys)
|
rs139853494
|
0.00004
|
NM_133642.5(LARGE1):c.259C>A (p.Gln87Lys)
|
rs373853930
|
0.00004
|
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln)
|
rs763697782
|
0.00004
|
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln)
|
rs142272515
|
0.00003
|
NM_133642.5(LARGE1):c.417C>T (p.His139=)
|
rs115575249
|
0.00003
|
NM_133642.5(LARGE1):c.551C>T (p.Thr184Met)
|
rs138676820
|
0.00003
|
NM_133642.5(LARGE1):c.607G>A (p.Glu203Lys)
|
rs776803926
|
0.00003
|
NM_133642.5(LARGE1):c.1132-8C>T
|
rs748964975
|
0.00002
|
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=)
|
rs772615481
|
0.00002
|
NM_133642.5(LARGE1):c.1785C>T (p.Pro595=)
|
rs751341620
|
0.00002
|
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys)
|
rs144045461
|
0.00002
|
NM_133642.5(LARGE1):c.1878-24A>G
|
rs375863881
|
0.00002
|
NM_133642.5(LARGE1):c.1993C>T (p.Arg665Cys)
|
rs749437299
|
0.00002
|
NM_133642.5(LARGE1):c.424A>G (p.Ile142Val)
|
rs199906790
|
0.00002
|
NM_133642.5(LARGE1):c.615+8C>T
|
rs587783731
|
0.00002
|
NM_133642.5(LARGE1):c.1056C>A (p.Leu352=)
|
rs369877399
|
0.00001
|
NM_133642.5(LARGE1):c.1094G>A (p.Arg365His)
|
rs749284964
|
0.00001
|
NM_133642.5(LARGE1):c.1102C>T (p.Gln368Ter)
|
rs398124181
|
0.00001
|
NM_133642.5(LARGE1):c.1229A>G (p.Asn410Ser)
|
rs199912424
|
0.00001
|
NM_133642.5(LARGE1):c.1234C>T (p.Leu412=)
|
rs748508322
|
0.00001
|
NM_133642.5(LARGE1):c.1416G>A (p.Thr472=)
|
rs755991003
|
0.00001
|
NM_133642.5(LARGE1):c.1432G>A (p.Ala478Thr)
|
rs778360056
|
0.00001
|
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)
|
rs372629986
|
0.00001
|
NM_133642.5(LARGE1):c.1663A>G (p.Ser555Gly)
|
rs760507626
|
0.00001
|
NM_133642.5(LARGE1):c.1705A>G (p.Met569Val)
|
rs1208818239
|
0.00001
|
NM_133642.5(LARGE1):c.1902C>T (p.His634=)
|
rs754149838
|
0.00001
|
NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp)
|
rs746916767
|
0.00001
|
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr)
|
rs752854659
|
0.00001
|
NM_133642.5(LARGE1):c.245A>G (p.Gln82Arg)
|
rs774035009
|
0.00001
|
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr)
|
rs398124184
|
0.00001
|
NM_133642.5(LARGE1):c.284G>A (p.Arg95Gln)
|
rs773482355
|
0.00001
|
NM_133642.5(LARGE1):c.298A>G (p.Lys100Glu)
|
rs985654114
|
0.00001
|
NM_133642.5(LARGE1):c.755C>T (p.Ala252Val)
|
rs764632554
|
0.00001
|
GRCh37/hg19 22q12.3(chr22:33528709-33839217)x3
|
|
|
GRCh37/hg19 22q12.3(chr22:33655596-34004153)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33660717-33940002)x4
|
|
|
GRCh37/hg19 22q12.3(chr22:33698972-33706824)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33716946-34230190)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33718485-34386473)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33736087-33736744)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33736087-33743341)x0
|
|
|
GRCh37/hg19 22q12.3(chr22:33755901-33760604)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33760603-33893824)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33763247-33771672)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33766524-33947402)x3
|
|
|
GRCh37/hg19 22q12.3(chr22:33779182-33782594)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33780897-33782594)x0
|
|
|
GRCh37/hg19 22q12.3(chr22:33781011-33782594)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33786251-33872846)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33789711-34054580)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33810569-33838701)x3
|
|
|
GRCh37/hg19 22q12.3(chr22:33816856-33909777)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33904676-33915455)x3
|
|
|
GRCh37/hg19 22q12.3(chr22:33907005-33978458)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33909775-34583176)x3
|
|
|
GRCh37/hg19 22q12.3(chr22:33914823-34110028)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33923345-33983594)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33960834-34046791)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33960834-34046791)x3
|
|
|
GRCh37/hg19 22q12.3(chr22:33963790-33981599)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33983040-34200588)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34015991-34259378)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34047444-34050747)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34087695-34148622)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34098416-34197367)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34109005-34225482)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34130912-34188220)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34192190-34281098)x1
|
|
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GRCh37/hg19 22q12.3(chr22:34210930-34463313)x3
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GRCh37/hg19 22q12.3(chr22:34220795-34281098)x1
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GRCh37/hg19 22q12.3(chr22:34287350-34315294)x3
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GRCh37/hg19 22q12.3(chr22:34307510-34723028)x3
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NM_133642.5(LARGE1):c.-82-194_-82-192del
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rs71667420
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NM_133642.5(LARGE1):c.1060T>G (p.Cys354Gly)
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NM_133642.5(LARGE1):c.107-184G>C
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rs9621741
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NM_133642.5(LARGE1):c.1159C>G (p.Leu387Val)
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rs2146571978
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NM_133642.5(LARGE1):c.1162C>T (p.Arg388Trp)
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rs767127452
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NM_133642.5(LARGE1):c.1169A>G (p.Lys390Arg)
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NM_133642.5(LARGE1):c.117C>A (p.Pro39=)
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rs140622529
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NM_133642.5(LARGE1):c.118G>C (p.Val40Leu)
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rs188675457
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NM_133642.5(LARGE1):c.118G>T (p.Val40Leu)
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rs188675457
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NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val)
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rs775051738
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NM_133642.5(LARGE1):c.1314C>T (p.Asp438=)
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NM_133642.5(LARGE1):c.1343G>A (p.Arg448Gln)
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rs1064796524
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NM_133642.5(LARGE1):c.1452-1058A>T
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NM_133642.5(LARGE1):c.1452-28C>T
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rs76647066
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NM_133642.5(LARGE1):c.1452-7C>T
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rs760909985
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NM_133642.5(LARGE1):c.1453C>A (p.Leu485Ile)
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NM_133642.5(LARGE1):c.1570A>C (p.Met524Leu)
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rs2146165030
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NM_133642.5(LARGE1):c.161A>C (p.Tyr54Ser)
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rs1555984077
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NM_133642.5(LARGE1):c.164C>A (p.Thr55Lys)
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NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn)
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rs138573955
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NM_133642.5(LARGE1):c.1711G>A (p.Gly571Arg)
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NM_133642.5(LARGE1):c.1731-10C>T
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rs772579469
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NM_133642.5(LARGE1):c.1731-88G>T
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rs11913299
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NM_133642.5(LARGE1):c.1733A>T (p.Lys578Met)
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NM_133642.5(LARGE1):c.1750G>A (p.Asp584Asn)
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NM_133642.5(LARGE1):c.1775T>C (p.Met592Thr)
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rs1602229851
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NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)
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rs576967464
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NM_133642.5(LARGE1):c.1802G>A (p.Arg601His)
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rs771376144
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NM_133642.5(LARGE1):c.1877+89G>A
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rs5998842
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NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu)
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rs778669044
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NM_133642.5(LARGE1):c.1977G>A (p.Pro659=)
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rs768565081
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NM_133642.5(LARGE1):c.1980TGT[2] (p.Val663del)
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NM_133642.5(LARGE1):c.2019G>T (p.Arg673Ser)
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NM_133642.5(LARGE1):c.2074-109G>A
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rs59957248
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NM_133642.5(LARGE1):c.2105A>T (p.Tyr702Phe)
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NM_133642.5(LARGE1):c.2116A>G (p.Met706Val)
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NM_133642.5(LARGE1):c.2120C>T (p.Pro707Leu)
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NM_133642.5(LARGE1):c.2162A>G (p.Lys721Arg)
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NM_133642.5(LARGE1):c.216G>C (p.Val72=)
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rs567998643
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NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys)
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rs757062605
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NM_133642.5(LARGE1):c.2217C>G (p.Ser739=)
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rs1406330296
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NM_133642.5(LARGE1):c.246G>T (p.Gln82His)
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rs768234422
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NM_133642.5(LARGE1):c.272C>A (p.Pro91Gln)
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NM_133642.5(LARGE1):c.293A>G (p.His98Arg)
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NM_133642.5(LARGE1):c.409-39G>C
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rs145859359
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NM_133642.5(LARGE1):c.445G>T (p.Ala149Ser)
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NM_133642.5(LARGE1):c.493C>T (p.Arg165Trp)
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rs765312193
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NM_133642.5(LARGE1):c.500C>G (p.Pro167Arg)
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NM_133642.5(LARGE1):c.549C>T (p.Ala183=)
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rs1602669837
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NM_133642.5(LARGE1):c.550A>G (p.Thr184Ala)
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NM_133642.5(LARGE1):c.611T>C (p.Leu204Pro)
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NM_133642.5(LARGE1):c.616-39del
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rs201800550
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NM_133642.5(LARGE1):c.665T>C (p.Leu222Pro)
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NM_133642.5(LARGE1):c.690T>C (p.Thr230=)
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rs753562472
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NM_133642.5(LARGE1):c.728C>G (p.Thr243Arg)
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rs1267359140
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NM_133642.5(LARGE1):c.72C>T (p.Ile24=)
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rs727503994
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NM_133642.5(LARGE1):c.746C>A (p.Thr249Asn)
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rs1256101536
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NM_133642.5(LARGE1):c.754G>A (p.Ala252Thr)
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NM_133642.5(LARGE1):c.788-331_788-330insATGCATGA
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rs146169927
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NM_133642.5(LARGE1):c.788-331_788-330insATGCATGAATGA
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rs146169927
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NM_133642.5(LARGE1):c.788-331_788-330insATGCATGCATGA
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rs146169927
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NM_133642.5(LARGE1):c.788-331_788-330insATGCGTGA
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rs146169927
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NM_133642.5(LARGE1):c.788-333ATGA[10]
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rs10626676
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NM_133642.5(LARGE1):c.788-333ATGA[11]
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rs10626676
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NM_133642.5(LARGE1):c.788-333ATGA[8]
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rs10626676
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NM_133642.5(LARGE1):c.788-346CATG[5]
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rs1555916106
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NM_133642.5(LARGE1):c.862T>C (p.Trp288Arg)
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NM_133642.5(LARGE1):c.893-64_893-55del
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rs150907937
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NM_133642.5(LARGE1):c.909T>G (p.Leu303=)
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rs563144239
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NM_133642.5(LARGE1):c.929T>A (p.Met310Lys)
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rs1555908091
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