|
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
|
NM_133642.5(LARGE1):c.-63C>T
|
rs16992986
|
0.09348
|
|
NM_133642.5(LARGE1):c.*921C>G
|
rs16992034
|
0.07871
|
|
NM_133642.5(LARGE1):c.-397C>G
|
rs114106875
|
0.07319
|
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
|
NM_133642.5(LARGE1):c.*154C>A
|
rs73399512
|
0.03456
|
|
NM_133642.5(LARGE1):c.*856G>A
|
rs77663505
|
0.03428
|
|
NM_133642.5(LARGE1):c.*207G>A
|
rs16992036
|
0.03294
|
|
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)
|
rs34292743
|
0.02604
|
|
NM_133642.5(LARGE1):c.576C>T (p.Pro192=)
|
rs36002910
|
0.02334
|
|
NM_133642.5(LARGE1):c.*740A>G
|
rs116335813
|
0.02207
|
|
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)
|
rs11913417
|
0.02196
|
|
NM_133642.5(LARGE1):c.309C>T (p.Ser103=)
|
rs59349720
|
0.01920
|
|
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)
|
rs73399520
|
0.01853
|
|
NM_133642.5(LARGE1):c.165G>C (p.Thr55=)
|
rs63446460
|
0.01465
|
|
NM_133642.5(LARGE1):c.552G>A (p.Thr184=)
|
rs8142483
|
0.00887
|
|
NM_133642.5(LARGE1):c.*1201A>G
|
rs11544101
|
0.00840
|
|
NM_133642.5(LARGE1):c.-83+63217G>C
|
rs114574565
|
0.00831
|
|
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.*1235A>G
|
rs1801820
|
0.00578
|
|
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)
|
rs34642406
|
0.00430
|
|
NM_133642.5(LARGE1):c.-399A>T
|
rs535216289
|
0.00327
|
|
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.-83+63202T>G
|
rs147343461
|
0.00215
|
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
|
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)
|
rs115076367
|
0.00140
|
|
NM_133642.5(LARGE1):c.-455G>A
|
rs532736408
|
0.00134
|
|
NM_133642.5(LARGE1):c.*100C>A
|
rs567278765
|
0.00131
|
|
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.893-17C>G
|
rs139572378
|
0.00102
|
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00100
|
|
NM_133642.5(LARGE1):c.-271G>A
|
rs185068235
|
0.00093
|
|
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.-194G>A
|
rs530725597
|
0.00059
|
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
|
NM_133642.5(LARGE1):c.409-19C>T
|
rs374692757
|
0.00041
|
|
NM_133642.5(LARGE1):c.*823_*824dup
|
rs140177888
|
0.00039
|
|
NM_133642.5(LARGE1):c.*796C>T
|
rs144150303
|
0.00035
|
|
NM_133642.5(LARGE1):c.*998A>G
|
rs886057455
|
0.00033
|
|
NM_133642.5(LARGE1):c.*798G>A
|
rs778063005
|
0.00029
|
|
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.*155C>T
|
rs551266967
|
0.00023
|
|
NM_133642.5(LARGE1):c.492-11A>G
|
rs142978441
|
0.00023
|
|
NM_133642.5(LARGE1):c.651T>A (p.Ser217=)
|
rs143547253
|
0.00022
|
|
NM_133642.5(LARGE1):c.*699G>A
|
rs760092745
|
0.00021
|
|
NM_133642.5(LARGE1):c.-343C>A
|
rs886057467
|
0.00019
|
|
NM_133642.5(LARGE1):c.1675A>G (p.Met559Val)
|
rs191368661
|
0.00019
|
|
NM_133642.5(LARGE1):c.*455C>T
|
rs886057460
|
0.00018
|
|
NM_133642.5(LARGE1):c.2004G>A (p.Pro668=)
|
rs368231947
|
0.00017
|
|
NM_133642.5(LARGE1):c.584G>A (p.Arg195His)
|
rs147597912
|
0.00017
|
|
NM_133642.5(LARGE1):c.-247T>G
|
rs886057463
|
0.00016
|
|
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.1577G>A (p.Arg526His)
|
rs536420427
|
0.00013
|
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
|
NM_133642.5(LARGE1):c.*499G>A
|
rs886057458
|
0.00011
|
|
NM_133642.5(LARGE1):c.1645G>A (p.Val549Met)
|
rs149646216
|
0.00011
|
|
NM_133642.5(LARGE1):c.1664G>A (p.Ser555Asn)
|
rs773148038
|
0.00011
|
|
NM_133642.5(LARGE1):c.2073+11C>T
|
rs774384587
|
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.708G>A (p.Glu236=)
|
rs202028671
|
0.00011
|
|
NM_133642.5(LARGE1):c.787+14del
|
rs757463406
|
0.00011
|
|
NM_133642.5(LARGE1):c.*770A>T
|
rs886057456
|
0.00010
|
|
NM_133642.5(LARGE1):c.*849C>T
|
rs149508241
|
0.00010
|
|
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=)
|
rs369773678
|
0.00010
|
|
NM_133642.5(LARGE1):c.2015G>A (p.Arg672Gln)
|
rs145736519
|
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.1131+12A>T
|
rs377316838
|
0.00008
|
|
NM_133642.5(LARGE1):c.119T>C (p.Val40Ala)
|
rs148383806
|
0.00007
|
|
NM_133642.5(LARGE1):c.1277A>C (p.Asn426Thr)
|
rs369552267
|
0.00007
|
|
NM_133642.5(LARGE1):c.857G>A (p.Arg286His)
|
rs200035534
|
0.00007
|
|
NM_133642.5(LARGE1):c.*186C>T
|
rs780030367
|
0.00006
|
|
NM_133642.5(LARGE1):c.-242C>T
|
rs886057462
|
0.00006
|
|
NM_133642.5(LARGE1):c.-277T>G
|
rs886057464
|
0.00006
|
|
NM_133642.5(LARGE1):c.-287A>G
|
rs886057465
|
0.00006
|
|
NM_133642.5(LARGE1):c.-83+63184A>C
|
rs759992064
|
0.00006
|
|
NM_133642.5(LARGE1):c.1005+17G>A
|
rs371887551
|
0.00006
|
|
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.1521C>A (p.Asp507Glu)
|
rs1312649028
|
0.00006
|
|
NM_133642.5(LARGE1):c.1578C>T (p.Arg526=)
|
rs200229228
|
0.00006
|
|
NM_133642.5(LARGE1):c.1584C>T (p.Asn528=)
|
rs113492643
|
0.00006
|
|
NM_133642.5(LARGE1):c.1928G>A (p.Arg643Gln)
|
rs151199006
|
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.534G>C (p.Ala178=)
|
rs772655607
|
0.00006
|
|
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu)
|
rs149747266
|
0.00006
|
|
NM_133642.5(LARGE1):c.99C>T (p.Ser33=)
|
rs377353667
|
0.00006
|
|
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=)
|
rs115686643
|
0.00005
|
|
NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr)
|
rs776954687
|
0.00005
|
|
NM_133642.5(LARGE1):c.*566G>A
|
rs878945156
|
0.00004
|
|
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.1451+11C>T
|
rs201322547
|
0.00004
|
|
NM_133642.5(LARGE1):c.1597A>G (p.Ile533Val)
|
rs566107119
|
0.00004
|
|
NM_133642.5(LARGE1):c.1746G>A (p.Gln582=)
|
rs114161191
|
0.00004
|
|
NM_133642.5(LARGE1):c.1941G>A (p.Thr647=)
|
rs770327327
|
0.00004
|
|
NM_133642.5(LARGE1):c.201G>C (p.Val67=)
|
rs135312
|
0.00004
|
|
NM_133642.5(LARGE1):c.221A>C (p.Glu74Ala)
|
rs751789128
|
0.00004
|
|
NM_133642.5(LARGE1):c.2222G>A (p.Arg741His)
|
rs747003834
|
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.533C>T (p.Ala178Val)
|
rs377460238
|
0.00004
|
|
NM_133642.5(LARGE1):c.703C>T (p.Leu235=)
|
rs376057149
|
0.00004
|
|
NM_133642.5(LARGE1):c.81T>A (p.Ile27=)
|
rs145861048
|
0.00004
|
|
NM_133642.5(LARGE1):c.*580C>T
|
rs776235903
|
0.00003
|
|
NM_133642.5(LARGE1):c.*833A>G
|
rs748248240
|
0.00003
|
|
NM_133642.5(LARGE1):c.*969G>A
|
rs892305427
|
0.00003
|
|
NM_133642.5(LARGE1):c.-47C>T
|
rs775356534
|
0.00003
|
|
NM_133642.5(LARGE1):c.1020C>T (p.Ala340=)
|
rs927885509
|
0.00003
|
|
NM_133642.5(LARGE1):c.1098C>G (p.Ser366=)
|
rs770224674
|
0.00003
|
|
NM_133642.5(LARGE1):c.1215G>A (p.Leu405=)
|
rs368009890
|
0.00003
|
|
NM_133642.5(LARGE1):c.1623C>T (p.Tyr541=)
|
rs370896246
|
0.00003
|
|
NM_133642.5(LARGE1):c.1626C>T (p.Pro542=)
|
rs775137166
|
0.00003
|
|
NM_133642.5(LARGE1):c.1677G>A (p.Met559Ile)
|
rs376455063
|
0.00003
|
|
NM_133642.5(LARGE1):c.1704C>T (p.Pro568=)
|
rs768746727
|
0.00003
|
|
NM_133642.5(LARGE1):c.2136C>T (p.Phe712=)
|
rs767177452
|
0.00003
|
|
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=)
|
rs759427879
|
0.00003
|
|
NM_133642.5(LARGE1):c.2226C>T (p.Tyr742=)
|
rs777773303
|
0.00003
|
|
NM_133642.5(LARGE1):c.239G>T (p.Arg80Leu)
|
rs761004017
|
0.00003
|
|
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln)
|
rs142272515
|
0.00003
|
|
NM_133642.5(LARGE1):c.409-18G>A
|
rs774311766
|
0.00003
|
|
NM_133642.5(LARGE1):c.417C>T (p.His139=)
|
rs115575249
|
0.00003
|
|
NM_133642.5(LARGE1):c.491+11C>G
|
rs781066281
|
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.63C>A (p.Ile21=)
|
rs759218415
|
0.00003
|
|
NM_133642.5(LARGE1):c.923G>A (p.Arg308Gln)
|
rs773959791
|
0.00003
|
|
NM_133642.5(LARGE1):c.957C>T (p.Thr319=)
|
rs778094231
|
0.00003
|
|
NM_133642.5(LARGE1):c.107-8C>T
|
rs1006989010
|
0.00002
|
|
NM_133642.5(LARGE1):c.1132-3C>G
|
rs755662032
|
0.00002
|
|
NM_133642.5(LARGE1):c.1132-8C>T
|
rs748964975
|
0.00002
|
|
NM_133642.5(LARGE1):c.1241G>A (p.Arg414Gln)
|
rs200603479
|
0.00002
|
|
NM_133642.5(LARGE1):c.1287+12G>A
|
rs370541163
|
0.00002
|
|
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=)
|
rs772615481
|
0.00002
|
|
NM_133642.5(LARGE1):c.1340G>A (p.Arg447Gln)
|
rs139603473
|
0.00002
|
|
NM_133642.5(LARGE1):c.1544G>A (p.Arg515His)
|
rs368030516
|
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.1839G>T (p.Leu613Phe)
|
rs745392097
|
0.00002
|
|
NM_133642.5(LARGE1):c.1885G>A (p.Val629Ile)
|
rs547202997
|
0.00002
|
|
NM_133642.5(LARGE1):c.1965C>T (p.Ala655=)
|
rs368632863
|
0.00002
|
|
NM_133642.5(LARGE1):c.2070G>A (p.Val690=)
|
rs771631103
|
0.00002
|
|
NM_133642.5(LARGE1):c.2169C>T (p.Tyr723=)
|
rs1000835027
|
0.00002
|
|
NM_133642.5(LARGE1):c.2264A>G (p.Asn755Ser)
|
rs755283207
|
0.00002
|
|
NM_133642.5(LARGE1):c.408+7G>A
|
rs371246157
|
0.00002
|
|
NM_133642.5(LARGE1):c.424A>G (p.Ile142Val)
|
rs199906790
|
0.00002
|
|
NM_133642.5(LARGE1):c.45G>A (p.Ser15=)
|
rs752560976
|
0.00002
|
|
NM_133642.5(LARGE1):c.492-8C>T
|
rs764180554
|
0.00002
|
|
NM_133642.5(LARGE1):c.590A>C (p.Asp197Ala)
|
rs765069383
|
0.00002
|
|
NM_133642.5(LARGE1):c.606C>T (p.Asp202=)
|
rs759394642
|
0.00002
|
|
NM_133642.5(LARGE1):c.615+8C>T
|
rs587783731
|
0.00002
|
|
NM_133642.5(LARGE1):c.*1229G>A
|
rs918504034
|
0.00001
|
|
NM_133642.5(LARGE1):c.-34G>A
|
rs759430272
|
0.00001
|
|
NM_133642.5(LARGE1):c.-359C>G
|
rs886057468
|
0.00001
|
|
NM_133642.5(LARGE1):c.1005+12G>T
|
rs1030394513
|
0.00001
|
|
NM_133642.5(LARGE1):c.1005+15T>G
|
rs1414312676
|
0.00001
|
|
NM_133642.5(LARGE1):c.1006-14C>T
|
rs1197844730
|
0.00001
|
|
NM_133642.5(LARGE1):c.1056C>A (p.Leu352=)
|
rs369877399
|
0.00001
|
|
NM_133642.5(LARGE1):c.106+6A>C
|
rs746650831
|
0.00001
|
|
NM_133642.5(LARGE1):c.1080G>A (p.Leu360=)
|
rs774412531
|
0.00001
|
|
NM_133642.5(LARGE1):c.117C>T (p.Pro39=)
|
rs140622529
|
0.00001
|
|
NM_133642.5(LARGE1):c.1182G>C (p.Val394=)
|
rs751250015
|
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.1287+13C>T
|
rs759768595
|
0.00001
|
|
NM_133642.5(LARGE1):c.1288-8C>T
|
rs768000708
|
0.00001
|
|
NM_133642.5(LARGE1):c.1299G>T (p.Gln433His)
|
rs1463323644
|
0.00001
|
|
NM_133642.5(LARGE1):c.1331A>G (p.Tyr444Cys)
|
rs748074253
|
0.00001
|
|
NM_133642.5(LARGE1):c.1390G>A (p.Glu464Lys)
|
rs772985451
|
0.00001
|
|
NM_133642.5(LARGE1):c.1415C>T (p.Thr472Met)
|
rs779725828
|
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.1451+12G>A
|
rs1029660389
|
0.00001
|
|
NM_133642.5(LARGE1):c.1462C>T (p.Leu488=)
|
rs759041475
|
0.00001
|
|
NM_133642.5(LARGE1):c.1483T>C (p.Trp495Arg)
|
rs267607209
|
0.00001
|
|
NM_133642.5(LARGE1):c.1501C>G (p.Leu501Val)
|
rs966974831
|
0.00001
|
|
NM_133642.5(LARGE1):c.1525G>A (p.Glu509Lys)
|
rs121908675
|
0.00001
|
|
NM_133642.5(LARGE1):c.1557C>T (p.Gly519=)
|
rs763782820
|
0.00001
|
|
NM_133642.5(LARGE1):c.1585G>A (p.Val529Met)
|
rs146923365
|
0.00001
|
|
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)
|
rs372629986
|
0.00001
|
|
NM_133642.5(LARGE1):c.1614C>T (p.Gly538=)
|
rs749791648
|
0.00001
|
|
NM_133642.5(LARGE1):c.164C>T (p.Thr55Met)
|
rs766363552
|
0.00001
|
|
NM_133642.5(LARGE1):c.1654A>G (p.Lys552Glu)
|
rs764803042
|
0.00001
|
|
NM_133642.5(LARGE1):c.1663A>G (p.Ser555Gly)
|
rs760507626
|
0.00001
|
|
NM_133642.5(LARGE1):c.1702C>G (p.Pro568Ala)
|
rs1934563241
|
0.00001
|
|
NM_133642.5(LARGE1):c.1706T>C (p.Met569Thr)
|
rs561951366
|
0.00001
|
|
NM_133642.5(LARGE1):c.173G>A (p.Ser58Asn)
|
rs774240856
|
0.00001
|
|
NM_133642.5(LARGE1):c.1799T>C (p.Leu600Pro)
|
rs1930821948
|
0.00001
|
|
NM_133642.5(LARGE1):c.1833G>A (p.Ala611=)
|
rs775318098
|
0.00001
|
|
NM_133642.5(LARGE1):c.1878-12C>T
|
rs535915450
|
0.00001
|
|
NM_133642.5(LARGE1):c.1893G>A (p.Thr631=)
|
rs138011042
|
0.00001
|
|
NM_133642.5(LARGE1):c.1902C>T (p.His634=)
|
rs754149838
|
0.00001
|
|
NM_133642.5(LARGE1):c.1932C>T (p.Thr644=)
|
rs764884886
|
0.00001
|
|
NM_133642.5(LARGE1):c.1933G>A (p.Ala645Thr)
|
rs759095312
|
0.00001
|
|
NM_133642.5(LARGE1):c.206T>C (p.Met69Thr)
|
rs1602977812
|
0.00001
|
|
NM_133642.5(LARGE1):c.2074-6T>C
|
rs775368005
|
0.00001
|
|
NM_133642.5(LARGE1):c.2087T>C (p.Ile696Thr)
|
rs200212868
|
0.00001
|
|
NM_133642.5(LARGE1):c.219G>A (p.Glu73=)
|
rs2080766768
|
0.00001
|
|
NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp)
|
rs746916767
|
0.00001
|
|
NM_133642.5(LARGE1):c.222G>T (p.Glu74Asp)
|
rs373261094
|
0.00001
|
|
NM_133642.5(LARGE1):c.2234C>A (p.Ala745Asp)
|
rs1254409268
|
0.00001
|
|
NM_133642.5(LARGE1):c.2243A>G (p.Lys748Arg)
|
rs1185896635
|
0.00001
|
|
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr)
|
rs752854659
|
0.00001
|
|
NM_133642.5(LARGE1):c.230G>A (p.Arg77His)
|
rs1402888044
|
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.265C>G (p.Arg89Gly)
|
rs1359437833
|
0.00001
|
|
NM_133642.5(LARGE1):c.276C>T (p.Ser92=)
|
rs759755959
|
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.321C>A (p.Gly107=)
|
rs776598184
|
0.00001
|
|
NM_133642.5(LARGE1):c.333C>T (p.Ser111=)
|
rs746767821
|
0.00001
|
|
NM_133642.5(LARGE1):c.34T>C (p.Leu12=)
|
rs1320102818
|
0.00001
|
|
NM_133642.5(LARGE1):c.393C>G (p.Val131=)
|
rs776024597
|
0.00001
|
|
NM_133642.5(LARGE1):c.418G>A (p.Val140Ile)
|
rs780394465
|
0.00001
|
|
NM_133642.5(LARGE1):c.442A>C (p.Asn148His)
|
rs753419341
|
0.00001
|
|
NM_133642.5(LARGE1):c.459C>T (p.Val153=)
|
rs199822331
|
0.00001
|
|
NM_133642.5(LARGE1):c.477C>T (p.Ser159=)
|
rs150283131
|
0.00001
|
|
NM_133642.5(LARGE1):c.492-10C>T
|
rs1452229191
|
0.00001
|
|
NM_133642.5(LARGE1):c.492-3C>T
|
rs1222657512
|
0.00001
|
|
NM_133642.5(LARGE1):c.492-6C>G
|
rs762612242
|
0.00001
|
|
NM_133642.5(LARGE1):c.494G>A (p.Arg165Gln)
|
rs1343483735
|
0.00001
|
|
NM_133642.5(LARGE1):c.506A>G (p.His169Arg)
|
rs886057461
|
0.00001
|
|
NM_133642.5(LARGE1):c.510C>G (p.Phe170Leu)
|
rs770995323
|
0.00001
|
|
NM_133642.5(LARGE1):c.546G>A (p.Leu182=)
|
rs755661957
|
0.00001
|
|
NM_133642.5(LARGE1):c.577G>A (p.Ala193Thr)
|
rs1349882228
|
0.00001
|
|
NM_133642.5(LARGE1):c.583C>T (p.Arg195Cys)
|
rs758364338
|
0.00001
|
|
NM_133642.5(LARGE1):c.597C>T (p.Tyr199=)
|
rs996648375
|
0.00001
|
|
NM_133642.5(LARGE1):c.664C>T (p.Leu222=)
|
rs148889570
|
0.00001
|
|
NM_133642.5(LARGE1):c.717C>T (p.Ile239=)
|
rs761927446
|
0.00001
|
|
NM_133642.5(LARGE1):c.729G>A (p.Thr243=)
|
rs1176140640
|
0.00001
|
|
NM_133642.5(LARGE1):c.74C>T (p.Thr25Ile)
|
rs773210756
|
0.00001
|
|
NM_133642.5(LARGE1):c.755C>T (p.Ala252Val)
|
rs764632554
|
0.00001
|
|
NM_133642.5(LARGE1):c.787+14A>T
|
rs776201139
|
0.00001
|
|
NM_133642.5(LARGE1):c.79A>G (p.Ile27Val)
|
rs772137666
|
0.00001
|
|
NM_133642.5(LARGE1):c.822T>C (p.Ser274=)
|
rs1443538111
|
0.00001
|
|
NM_133642.5(LARGE1):c.893-9G>A
|
rs758531510
|
0.00001
|
|
NM_133642.5(LARGE1):c.8G>C (p.Gly3Ala)
|
rs780682266
|
0.00001
|
|
NM_133642.5(LARGE1):c.904T>C (p.Leu302=)
|
rs755445182
|
0.00001
|
|
NM_133642.5(LARGE1):c.942G>A (p.Gln314=)
|
rs776701293
|
0.00001
|
|
NM_133642.5(LARGE1):c.958G>A (p.Ala320Thr)
|
rs374774937
|
0.00001
|
|
GRCh37/hg19 22q12.3(chr22:34152899-34236578)
|
|
|
|
LARGE1, GLN87FS
|
|
|
|
NC_000022.10:g.(33756233_33756918)_(33759931_33760459)delins42.9KB
|
|
|
|
NC_000022.10:g.(?_33559508)_(33673261_?)del
|
|
|
|
NC_000022.10:g.(?_33670403)_(33679344_?)del
|
|
|
|
NC_000022.10:g.(?_33670403)_(33828261_?)dup
|
|
|
|
NC_000022.10:g.(?_33700195)_(33712254_?)del
|
|
|
|
NC_000022.10:g.(?_33712051)_(33733807_?)del
|
|
|
|
NC_000022.10:g.(?_33733612)_(33828271_?)del
|
|
|
|
NC_000022.10:g.(?_33733612)_(34157463_?)del
|
|
|
|
NC_000022.10:g.(?_33777885)_(33828271_?)del
|
|
|
|
NC_000022.10:g.(?_33828127)_(33961025_?)del
|
|
|
|
NC_000022.10:g.(?_33828137)_(34157473_?)del
|
|
|
|
NC_000022.10:g.(?_33960814)_(33961025_?)del
|
|
|
|
NC_000022.10:g.(?_33960814)_(34157463_?)del
|
|
|
|
NC_000022.10:g.(?_33960824)_(34022320_?)del
|
|
|
|
NC_000022.10:g.(?_33960824)_(34046664_?)del
|
|
|
|
NC_000022.10:g.(?_34000401)_(34046674_?)del
|
|
|
|
NC_000022.10:g.(?_34000401)_(34157463_?)del
|
|
|
|
NC_000022.10:g.(?_34022208)_(34022330_?)del
|
|
|
|
NC_000022.10:g.(?_34022208)_(34157483_?)del
|
|
|
|
NC_000022.10:g.(?_34022218)_(34157473_?)del
|
|
|
|
NC_000022.10:g.(?_34157338)_(34157463_?)del
|
|
|
|
NC_000022.10:g.(?_34157338)_(34157463_?)dup
|
|
|
|
NC_000022.11:g.(?_33761351)_(33761496_?)del
|
|
|
|
NC_000022.11:g.(?_33761361)_(33761486_?)del
|
|
|
|
NG_009929.2:g.523149_586240del
|
|
|
|
NM_133642.5(LARGE1):c.*479A>T
|
rs886057459
|
|
|
NM_133642.5(LARGE1):c.*501T>C
|
rs886057457
|
|
|
NM_133642.5(LARGE1):c.*639T>G
|
rs373361875
|
|
|
NM_133642.5(LARGE1):c.*995T>C
|
rs1928531659
|
|
|
NM_133642.5(LARGE1):c.-202C>A
|
rs946350081
|
|
|
NM_133642.5(LARGE1):c.-292G>C
|
rs886057466
|
|
|
NM_133642.5(LARGE1):c.-377C>G
|
rs1218154642
|
|
|
NM_133642.5(LARGE1):c.1002C>A (p.Asp334Glu)
|
rs2147134497
|
|
|
NM_133642.5(LARGE1):c.1005+11A>G
|
|
|
|
NM_133642.5(LARGE1):c.1005+13G>T
|
|
|
|
NM_133642.5(LARGE1):c.1005+17G>T
|
|
|
|
NM_133642.5(LARGE1):c.1005+3G>A
|
|
|
|
NM_133642.5(LARGE1):c.1005+5G>A
|
rs1204892970
|
|
|
NM_133642.5(LARGE1):c.1005+9C>G
|
|
|
|
NM_133642.5(LARGE1):c.1006-11del
|
|
|
|
NM_133642.5(LARGE1):c.1006-20C>T
|
|
|
|
NM_133642.5(LARGE1):c.1006-4C>T
|
|
|
|
NM_133642.5(LARGE1):c.1006-5C>T
|
rs977498462
|
|
|
NM_133642.5(LARGE1):c.1006-6C>T
|
|
|
|
NM_133642.5(LARGE1):c.1006-7C>A
|
|
|
|
NM_133642.5(LARGE1):c.1014C>T (p.Phe338=)
|
rs758924905
|
|
|
NM_133642.5(LARGE1):c.1016A>G (p.Asn339Ser)
|
|
|
|
NM_133642.5(LARGE1):c.1019C>T (p.Ala340Val)
|
|
|
|
NM_133642.5(LARGE1):c.1021G>A (p.Val341Ile)
|
|
|
|
NM_133642.5(LARGE1):c.1029A>G (p.Lys343=)
|
|
|
|
NM_133642.5(LARGE1):c.102C>T (p.Phe34=)
|
|
|
|
NM_133642.5(LARGE1):c.1030C>T (p.Gln344Ter)
|
|
|
|
NM_133642.5(LARGE1):c.1033_1034dup (p.Asn345fs)
|
rs1569112355
|
|
|
NM_133642.5(LARGE1):c.1047G>A (p.Val349=)
|
|
|
|
NM_133642.5(LARGE1):c.1050C>T (p.Tyr350=)
|
|
|
|
NM_133642.5(LARGE1):c.106+10G>A
|
|
|
|
NM_133642.5(LARGE1):c.106+14C>T
|
|
|
|
NM_133642.5(LARGE1):c.106+3A>T
|
|
|
|
NM_133642.5(LARGE1):c.106+7A>G
|
|
|
|
NM_133642.5(LARGE1):c.107-11T>C
|
|
|
|
NM_133642.5(LARGE1):c.107-19C>G
|
|
|
|
NM_133642.5(LARGE1):c.107-6C>T
|
|
|
|
NM_133642.5(LARGE1):c.107-7T>C
|
|
|
|
NM_133642.5(LARGE1):c.107-9G>A
|
|
|
|
NM_133642.5(LARGE1):c.1093C>T (p.Arg365Cys)
|
rs1361308052
|
|
|
NM_133642.5(LARGE1):c.1095C>A (p.Arg365=)
|
rs775639749
|
|
|
NM_133642.5(LARGE1):c.1095C>T (p.Arg365=)
|
|
|
|
NM_133642.5(LARGE1):c.1098C>T (p.Ser366=)
|
|
|
|
NM_133642.5(LARGE1):c.1110C>T (p.Tyr370=)
|
|
|
|
NM_133642.5(LARGE1):c.1113A>G (p.Arg371=)
|
|
|
|
NM_133642.5(LARGE1):c.1119G>C (p.Val373=)
|
|
|
|
NM_133642.5(LARGE1):c.1126C>T (p.Leu376=)
|
|
|
|
NM_133642.5(LARGE1):c.1131+10A>T
|
|
|
|
NM_133642.5(LARGE1):c.1131+11C>T
|
|
|
|
NM_133642.5(LARGE1):c.1131+12_1131+13insAACAGAGGGACATCCCTGGAGGTAGGGTG
|
rs2147112788
|
|
|
NM_133642.5(LARGE1):c.1131+15G>C
|
|
|
|
NM_133642.5(LARGE1):c.1131+16G>T
|
|
|
|
NM_133642.5(LARGE1):c.1131+17G>A
|
|
|
|
NM_133642.5(LARGE1):c.1131+4G>A
|
|
|
|
NM_133642.5(LARGE1):c.1132-10T>C
|
|
|
|
NM_133642.5(LARGE1):c.1132-11C>G
|
|
|
|
NM_133642.5(LARGE1):c.1132-16del
|
|
|
|
NM_133642.5(LARGE1):c.1132-2A>G
|
|
|
|
NM_133642.5(LARGE1):c.1132-4C>A
|
|
|
|
NM_133642.5(LARGE1):c.1132-4C>T
|
|
|
|
NM_133642.5(LARGE1):c.1132-5G>T
|
|
|
|
NM_133642.5(LARGE1):c.1138C>G (p.His380Asp)
|
rs1938648531
|
|
|
NM_133642.5(LARGE1):c.1140C>T (p.His380=)
|
|
|
|
NM_133642.5(LARGE1):c.115C>T (p.Pro39Ser)
|
|
|
|
NM_133642.5(LARGE1):c.1162C>T (p.Arg388Trp)
|
rs767127452
|
|
|
NM_133642.5(LARGE1):c.1170G>A (p.Lys390=)
|
|
|
|
NM_133642.5(LARGE1):c.1176G>A (p.Lys392=)
|
|
|
|
NM_133642.5(LARGE1):c.1185G>A (p.Glu395=)
|
rs1431706655
|
|
|
NM_133642.5(LARGE1):c.118G>C (p.Val40Leu)
|
rs188675457
|
|
|
NM_133642.5(LARGE1):c.118G>T (p.Val40Leu)
|
rs188675457
|
|
|
NM_133642.5(LARGE1):c.1192C>T (p.Arg398Cys)
|
rs1376994263
|
|
|
NM_133642.5(LARGE1):c.1196A>C (p.Asn399Thr)
|
|
|
|
NM_133642.5(LARGE1):c.1200C>G (p.Leu400=)
|
|
|
|
NM_133642.5(LARGE1):c.1201_1202delinsCT (p.Tyr401Leu)
|
rs1938639225
|
|
|
NM_133642.5(LARGE1):c.1206G>A (p.Leu402=)
|
rs982770696
|
|
|
NM_133642.5(LARGE1):c.1209del (p.Phe404fs)
|
rs1938637889
|
|
|
NM_133642.5(LARGE1):c.120G>A (p.Val40=)
|
|
|
|
NM_133642.5(LARGE1):c.1224C>T (p.Asp408=)
|
|
|
|
NM_133642.5(LARGE1):c.1225G>A (p.Gly409Ser)
|
rs1555898776
|
|
|
NM_133642.5(LARGE1):c.122C>T (p.Ser41Phe)
|
|
|
|
NM_133642.5(LARGE1):c.123T>A (p.Ser41=)
|
|
|
|
NM_133642.5(LARGE1):c.123T>C (p.Ser41=)
|
|
|
|
NM_133642.5(LARGE1):c.1242G>A (p.Arg414=)
|
|
|
|
NM_133642.5(LARGE1):c.124C>T (p.Leu42=)
|
|
|
|
NM_133642.5(LARGE1):c.1250T>G (p.Phe417Cys)
|
|
|
|
NM_133642.5(LARGE1):c.1254C>T (p.Gly418=)
|
|
|
|
NM_133642.5(LARGE1):c.1257C>T (p.Cys419=)
|
|
|
|
NM_133642.5(LARGE1):c.1261A>G (p.Ser421Gly)
|
rs905900345
|
|
|
NM_133642.5(LARGE1):c.1272T>A (p.Asp424Glu)
|
|
|
|
NM_133642.5(LARGE1):c.1272T>C (p.Asp424=)
|
|
|
|
NM_133642.5(LARGE1):c.1279A>G (p.Ser427Gly)
|
rs1938625368
|
|
|
NM_133642.5(LARGE1):c.1287+12G>T
|
rs370541163
|
|
|
NM_133642.5(LARGE1):c.1287+15_1287+16insGGCTCGCAAAA
|
|
|
|
NM_133642.5(LARGE1):c.1287+17G>T
|
|
|
|
NM_133642.5(LARGE1):c.1287+19T>C
|
|
|
|
NM_133642.5(LARGE1):c.1287+1G>A
|
|
|
|
NM_133642.5(LARGE1):c.1287+1G>C
|
|
|
|
NM_133642.5(LARGE1):c.1287+2dup
|
rs2146570024
|
|
|
NM_133642.5(LARGE1):c.1288-10T>C
|
|
|
|
NM_133642.5(LARGE1):c.1288-12C>G
|
|
|
|
NM_133642.5(LARGE1):c.1288-18C>G
|
rs750499971
|
|
|
NM_133642.5(LARGE1):c.1288-18C>T
|
|
|
|
NM_133642.5(LARGE1):c.1288-19C>A
|
rs1263961982
|
|
|
NM_133642.5(LARGE1):c.1288-6C>G
|
|
|
|
NM_133642.5(LARGE1):c.1288-6C>T
|
|
|
|
NM_133642.5(LARGE1):c.1288-7C>G
|
|
|
|
NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val)
|
rs775051738
|
|
|
NM_133642.5(LARGE1):c.129A>G (p.Ser43=)
|
|
|
|
NM_133642.5(LARGE1):c.1308G>C (p.Glu436Asp)
|
|
|
|
NM_133642.5(LARGE1):c.1321G>A (p.Asp441Asn)
|
rs915849571
|
|
|
NM_133642.5(LARGE1):c.132G>A (p.Pro44=)
|
|
|
|
NM_133642.5(LARGE1):c.132G>C (p.Pro44=)
|
|
|
|
NM_133642.5(LARGE1):c.132G>T (p.Pro44=)
|
|
|
|
NM_133642.5(LARGE1):c.1339C>T (p.Arg447Trp)
|
|
|
|
NM_133642.5(LARGE1):c.1343G>A (p.Arg448Gln)
|
rs1064796524
|
|
|
NM_133642.5(LARGE1):c.1348C>T (p.Arg450Cys)
|
rs754744384
|
|
|
NM_133642.5(LARGE1):c.1357G>A (p.Val453Ile)
|
|
|
|
NM_133642.5(LARGE1):c.1371C>T (p.His457=)
|
|
|
|
NM_133642.5(LARGE1):c.1372C>T (p.Leu458=)
|
|
|
|
NM_133642.5(LARGE1):c.1374G>A (p.Leu458=)
|
|
|
|
NM_133642.5(LARGE1):c.1380C>T (p.Phe460=)
|
rs764722483
|
|
|
NM_133642.5(LARGE1):c.1381C>T (p.Leu461=)
|
rs2146303992
|
|
|
NM_133642.5(LARGE1):c.1383G>A (p.Leu461=)
|
|
|
|
NM_133642.5(LARGE1):c.1385A>G (p.His462Arg)
|
rs775726150
|
|
|
NM_133642.5(LARGE1):c.1390G>T (p.Glu464Ter)
|
|
|
|
NM_133642.5(LARGE1):c.1392G>A (p.Glu464=)
|
|
|
|
NM_133642.5(LARGE1):c.1396G>A (p.Glu466Lys)
|
rs774223611
|
|
|
NM_133642.5(LARGE1):c.140C>T (p.Ser47Phe)
|
rs1427588155
|
|
|
NM_133642.5(LARGE1):c.1411A>G (p.Ser471Gly)
|
rs1936127827
|
|
|
NM_133642.5(LARGE1):c.1419C>T (p.Asp473=)
|
|
|
|
NM_133642.5(LARGE1):c.1420G>T (p.Val474Phe)
|
rs150861748
|
|
|
NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met)
|
rs369168322
|
|
|
NM_133642.5(LARGE1):c.1428G>A (p.Leu476=)
|
|
|
|
NM_133642.5(LARGE1):c.1431C>G (p.Val477=)
|
rs987466965
|
|
|
NM_133642.5(LARGE1):c.1433C>T (p.Ala478Val)
|
|
|
|
NM_133642.5(LARGE1):c.1434T>G (p.Ala478=)
|
rs2146303266
|
|
|
NM_133642.5(LARGE1):c.1440G>A (p.Leu480=)
|
|
|
|
NM_133642.5(LARGE1):c.1451+12G>C
|
|
|
|
NM_133642.5(LARGE1):c.1451+13G>A
|
|
|
|
NM_133642.5(LARGE1):c.1451+9G>C
|
|
|
|
NM_133642.5(LARGE1):c.1452-13C>T
|
|
|
|
NM_133642.5(LARGE1):c.1452-13dup
|
|
|
|
NM_133642.5(LARGE1):c.1452-19C>T
|
|
|
|
NM_133642.5(LARGE1):c.1452-9C>A
|
|
|
|
NM_133642.5(LARGE1):c.1457A>G (p.Gln486Arg)
|
rs925299001
|
|
|
NM_133642.5(LARGE1):c.1464G>A (p.Leu488=)
|
rs1361522471
|
|
|
NM_133642.5(LARGE1):c.1473C>A (p.Ile491=)
|
rs1602325498
|
|
|
NM_133642.5(LARGE1):c.1487A>G (p.Glu496Gly)
|
|
|
|
NM_133642.5(LARGE1):c.1488G>A (p.Glu496=)
|
|
|
|
NM_133642.5(LARGE1):c.1497C>G (p.Ile499Met)
|
|
|
|
NM_133642.5(LARGE1):c.1497C>T (p.Ile499=)
|
|
|
|
NM_133642.5(LARGE1):c.1501C>T (p.Leu501=)
|
|
|
|
NM_133642.5(LARGE1):c.1503G>C (p.Leu501=)
|
|
|
|
NM_133642.5(LARGE1):c.1503G>T (p.Leu501=)
|
rs1323217190
|
|
|
NM_133642.5(LARGE1):c.1512C>T (p.Tyr504=)
|
rs1602325222
|
|
|
NM_133642.5(LARGE1):c.1521C>T (p.Asp507=)
|
rs1312649028
|
|
|
NM_133642.5(LARGE1):c.1524C>T (p.Ala508=)
|
rs747233486
|
|
|
NM_133642.5(LARGE1):c.152G>A (p.Ser51Asn)
|
rs758152995
|
|
|
NM_133642.5(LARGE1):c.1536G>A (p.Gln512=)
|
|
|
|
NM_133642.5(LARGE1):c.1538dup (p.Leu514fs)
|
|
|
|
NM_133642.5(LARGE1):c.1539C>T (p.Phe513=)
|
|
|
|
NM_133642.5(LARGE1):c.153C>T (p.Ser51=)
|
|
|
|
NM_133642.5(LARGE1):c.1545C>G (p.Arg515=)
|
|
|
|
NM_133642.5(LARGE1):c.1549G>A (p.Ala517Thr)
|
|
|
|
NM_133642.5(LARGE1):c.1551A>G (p.Ala517=)
|
rs2146165347
|
|
|
NM_133642.5(LARGE1):c.1553A>C (p.Gln518Pro)
|
rs756533976
|
|
|
NM_133642.5(LARGE1):c.1554G>A (p.Gln518=)
|
|
|
|
NM_133642.5(LARGE1):c.1566G>A (p.Val522=)
|
|
|
|
NM_133642.5(LARGE1):c.156dup (p.Arg53fs)
|
|
|
|
NM_133642.5(LARGE1):c.1570A>T (p.Met524Leu)
|
rs2146165030
|
|
|
NM_133642.5(LARGE1):c.1586T>C (p.Val529Ala)
|
rs2146164640
|
|
|
NM_133642.5(LARGE1):c.1593C>T (p.Tyr531=)
|
rs1001705325
|
|
|
NM_133642.5(LARGE1):c.159G>A (p.Arg53=)
|
rs778498257
|
|
|
NM_133642.5(LARGE1):c.15C>T (p.Cys5=)
|
|
|
|
NM_133642.5(LARGE1):c.1600G>A (p.Val534Met)
|
rs1428533575
|
|
|
NM_133642.5(LARGE1):c.1601T>C (p.Val534Ala)
|
|
|
|
NM_133642.5(LARGE1):c.1602G>A (p.Val534=)
|
|
|
|
NM_133642.5(LARGE1):c.1612G>A (p.Gly538Ser)
|
rs768675700
|
|
|
NM_133642.5(LARGE1):c.1616_1620delinsG (p.Gln539fs)
|
|
|
|
NM_133642.5(LARGE1):c.1617G>A (p.Gln539=)
|
rs2146164178
|
|
|
NM_133642.5(LARGE1):c.1626C>G (p.Pro542=)
|
|
|
|
NM_133642.5(LARGE1):c.1636C>T (p.Leu546=)
|
|
|
|
NM_133642.5(LARGE1):c.1638G>A (p.Leu546=)
|
|
|
|
NM_133642.5(LARGE1):c.1640G>A (p.Arg547His)
|
rs1232298989
|
|
|
NM_133642.5(LARGE1):c.164C>A (p.Thr55Lys)
|
|
|
|
NM_133642.5(LARGE1):c.1656G>A (p.Lys552=)
|
rs138573955
|
|
|
NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn)
|
rs138573955
|
|
|
NM_133642.5(LARGE1):c.1659C>T (p.His553=)
|
|
|
|
NM_133642.5(LARGE1):c.1671del (p.Tyr558fs)
|
|
|
|
NM_133642.5(LARGE1):c.1676T>A (p.Met559Lys)
|
rs2146163535
|
|
|
NM_133642.5(LARGE1):c.1683G>A (p.Leu561=)
|
rs2146163430
|
|
|
NM_133642.5(LARGE1):c.1685C>T (p.Ser562Phe)
|
rs2146163397
|
|
|
NM_133642.5(LARGE1):c.1699del (p.Leu567fs)
|
rs1934564024
|
|
|
NM_133642.5(LARGE1):c.16A>C (p.Arg6=)
|
rs886038552
|
|
|
NM_133642.5(LARGE1):c.171del (p.Ser58fs)
|
|
|
|
NM_133642.5(LARGE1):c.1728C>T (p.Leu576=)
|
|
|
|
NM_133642.5(LARGE1):c.1730+13A>G
|
|
|
|
NM_133642.5(LARGE1):c.1730+16G>A
|
|
|
|
NM_133642.5(LARGE1):c.1730+1G>A
|
rs898695674
|
|
|
NM_133642.5(LARGE1):c.1730+7A>G
|
|
|
|
NM_133642.5(LARGE1):c.1730+8C>T
|
rs201267374
|
|
|
NM_133642.5(LARGE1):c.1731-10C>A
|
|
|
|
NM_133642.5(LARGE1):c.1731-11C>A
|
|
|
|
NM_133642.5(LARGE1):c.1731-17C>T
|
|
|
|
NM_133642.5(LARGE1):c.1731-18C>T
|
|
|
|
NM_133642.5(LARGE1):c.1731-8_1731-7del
|
|
|
|
NM_133642.5(LARGE1):c.1731-9T>C
|
|
|
|
NM_133642.5(LARGE1):c.1743C>G (p.Ile581Met)
|
rs747357315
|
|
|
NM_133642.5(LARGE1):c.1750G>A (p.Asp584Asn)
|
|
|
|
NM_133642.5(LARGE1):c.1759A>G (p.Asn587Asp)
|
rs749685972
|
|
|
NM_133642.5(LARGE1):c.1761C>T (p.Asn587=)
|
|
|
|
NM_133642.5(LARGE1):c.1765A>G (p.Lys589Glu)
|
rs1602229899
|
|
|
NM_133642.5(LARGE1):c.176A>T (p.Gln59Leu)
|
rs2080769500
|
|
|
NM_133642.5(LARGE1):c.1770A>G (p.Lys590=)
|
|
|
|
NM_133642.5(LARGE1):c.1772C>T (p.Ala591Val)
|
|
|
|
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)
|
rs576967464
|
|
|
NM_133642.5(LARGE1):c.1788G>T (p.Ala596=)
|
rs74550830
|
|
|
NM_133642.5(LARGE1):c.1802G>A (p.Arg601His)
|
rs771376144
|
|
|
NM_133642.5(LARGE1):c.1808G>A (p.Arg603Gln)
|
|
|
|
NM_133642.5(LARGE1):c.1811del (p.Leu604fs)
|
rs2145893296
|
|
|
NM_133642.5(LARGE1):c.1812G>A (p.Leu604=)
|
|
|
|
NM_133642.5(LARGE1):c.1818C>T (p.Phe606=)
|
|
|
|
NM_133642.5(LARGE1):c.1821C>G (p.Pro607=)
|
|
|
|
NM_133642.5(LARGE1):c.183G>A (p.Glu61=)
|
rs2149183104
|
|
|
NM_133642.5(LARGE1):c.1842G>A (p.Leu614=)
|
|
|
|
NM_133642.5(LARGE1):c.1846A>T (p.Met616Leu)
|
rs781142917
|
|
|
NM_133642.5(LARGE1):c.1849C>A (p.Leu617Met)
|
|
|
|
NM_133642.5(LARGE1):c.184_187del (p.Glu63fs)
|
|
|
|
NM_133642.5(LARGE1):c.1851G>A (p.Leu617=)
|
|
|
|
NM_133642.5(LARGE1):c.185G>A (p.Arg62His)
|
|
|
|
NM_133642.5(LARGE1):c.185G>T (p.Arg62Leu)
|
rs777156706
|
|
|
NM_133642.5(LARGE1):c.1862C>T (p.Thr621Ile)
|
rs1930806932
|
|
|
NM_133642.5(LARGE1):c.1863C>A (p.Thr621=)
|
rs1602229376
|
|
|
NM_133642.5(LARGE1):c.1864C>G (p.Leu622Val)
|
|
|
|
NM_133642.5(LARGE1):c.1869C>T (p.Phe623=)
|
|
|
|
NM_133642.5(LARGE1):c.186C>G (p.Arg62=)
|
rs535793068
|
|
|
NM_133642.5(LARGE1):c.186C>T (p.Arg62=)
|
|
|
|
NM_133642.5(LARGE1):c.1877+11C>G
|
|
|
|
NM_133642.5(LARGE1):c.1877+12T>C
|
|
|
|
NM_133642.5(LARGE1):c.1877+13A>G
|
|
|
|
NM_133642.5(LARGE1):c.1877+16T>C
|
|
|
|
NM_133642.5(LARGE1):c.1877+17G>A
|
|
|
|
NM_133642.5(LARGE1):c.1877+17G>C
|
|
|
|
NM_133642.5(LARGE1):c.1877+20G>A
|
|
|
|
NM_133642.5(LARGE1):c.1877+8del
|
|
|
|
NM_133642.5(LARGE1):c.1878-11G>A
|
|
|
|
NM_133642.5(LARGE1):c.1878-11GT[2]
|
|
|
|
NM_133642.5(LARGE1):c.1878-13C>T
|
|
|
|
NM_133642.5(LARGE1):c.1878-4T>A
|
rs2145832389
|
|
|
NM_133642.5(LARGE1):c.1880A>C (p.Tyr627Ser)
|
|
|
|
NM_133642.5(LARGE1):c.1884C>T (p.His628=)
|
rs78223631
|
|
|
NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly)
|
rs539747006
|
|
|
NM_133642.5(LARGE1):c.1893G>T (p.Thr631=)
|
rs138011042
|
|
|
NM_133642.5(LARGE1):c.189G>A (p.Glu63=)
|
rs1602978054
|
|
|
NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr)
|
rs150325234
|
|
|
NM_133642.5(LARGE1):c.1905A>G (p.Ala635=)
|
rs756255025
|
|
|
NM_133642.5(LARGE1):c.1914C>T (p.Asn638=)
|
|
|
|
NM_133642.5(LARGE1):c.1920C>A (p.Ala640=)
|
rs2145831959
|
|
|
NM_133642.5(LARGE1):c.1927C>T (p.Arg643Trp)
|
|
|
|
NM_133642.5(LARGE1):c.1932C>G (p.Thr644=)
|
|
|
|
NM_133642.5(LARGE1):c.1940C>T (p.Thr647Met)
|
|
|
|
NM_133642.5(LARGE1):c.1947C>T (p.Tyr649=)
|
|
|
|
NM_133642.5(LARGE1):c.1948C>A (p.Arg650=)
|
|
|
|
NM_133642.5(LARGE1):c.1948C>T (p.Arg650Trp)
|
|
|
|
NM_133642.5(LARGE1):c.1956G>A (p.Glu652=)
|
|
|
|
NM_133642.5(LARGE1):c.1966G>A (p.Asp656Asn)
|
|
|
|
NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu)
|
rs778669044
|
|
|
NM_133642.5(LARGE1):c.1977G>A (p.Pro659=)
|
rs768565081
|
|
|
NM_133642.5(LARGE1):c.1978T>C (p.Tyr660His)
|
|
|
|
NM_133642.5(LARGE1):c.198G>A (p.Glu66=)
|
|
|
|
NM_133642.5(LARGE1):c.1991G>C (p.Arg664Thr)
|
rs1929475941
|
|
|
NM_133642.5(LARGE1):c.1998C>G (p.Asp666Glu)
|
rs144197077
|
|
|
NM_133642.5(LARGE1):c.1998C>T (p.Asp666=)
|
|
|
|
NM_133642.5(LARGE1):c.1999dup (p.Cys667fs)
|
|
|
|
NM_133642.5(LARGE1):c.2010C>T (p.Tyr670=)
|
|
|
|
NM_133642.5(LARGE1):c.2034C>G (p.Gly678=)
|
|
|
|
NM_133642.5(LARGE1):c.2046G>A (p.Val682=)
|
|
|
|
NM_133642.5(LARGE1):c.204C>T (p.Arg68=)
|
|
|
|
NM_133642.5(LARGE1):c.2052T>C (p.His684=)
|
|
|
|
NM_133642.5(LARGE1):c.2064G>A (p.Leu688=)
|
|
|
|
NM_133642.5(LARGE1):c.2073+12G>A
|
rs377566674
|
|
|
NM_133642.5(LARGE1):c.2073+12G>T
|
rs377566674
|
|
|
NM_133642.5(LARGE1):c.2073+13G>T
|
|
|
|
NM_133642.5(LARGE1):c.2073+16C>A
|
|
|
|
NM_133642.5(LARGE1):c.2073+20C>T
|
|
|
|
NM_133642.5(LARGE1):c.2074-11T>C
|
|
|
|
NM_133642.5(LARGE1):c.2074-12G>T
|
|
|
|
NM_133642.5(LARGE1):c.2074-16T>A
|
|
|
|
NM_133642.5(LARGE1):c.2074-18G>A
|
rs1928830929
|
|
|
NM_133642.5(LARGE1):c.2074-18G>C
|
|
|
|
NM_133642.5(LARGE1):c.2074-18G>T
|
|
|
|
NM_133642.5(LARGE1):c.2074-3del
|
rs2145803199
|
|
|
NM_133642.5(LARGE1):c.2074-4C>G
|
|
|
|
NM_133642.5(LARGE1):c.2074-7C>T
|
|
|
|
NM_133642.5(LARGE1):c.2074-8T>G
|
rs2145803317
|
|
|
NM_133642.5(LARGE1):c.2078A>G (p.Tyr693Cys)
|
|
|
|
NM_133642.5(LARGE1):c.2079T>C (p.Tyr693=)
|
rs996290544
|
|
|
NM_133642.5(LARGE1):c.2082_2105del (p.Glu694_Tyr702delinsAsp)
|
rs1928816149
|
|
|
NM_133642.5(LARGE1):c.2091G>A (p.Val697=)
|
rs2145802982
|
|
|
NM_133642.5(LARGE1):c.2097C>T (p.Pro699=)
|
|
|
|
NM_133642.5(LARGE1):c.2119C>G (p.Pro707Ala)
|
|
|
|
NM_133642.5(LARGE1):c.2130C>T (p.Pro710=)
|
|
|
|
NM_133642.5(LARGE1):c.2133C>T (p.Ser711=)
|
|
|
|
NM_133642.5(LARGE1):c.2139C>T (p.Asp713=)
|
|
|
|
NM_133642.5(LARGE1):c.2142T>C (p.Ile714=)
|
rs1358320451
|
|
|
NM_133642.5(LARGE1):c.2148G>A (p.Lys716=)
|
rs1602189714
|
|
|
NM_133642.5(LARGE1):c.2152C>T (p.Arg718Cys)
|
|
|
|
NM_133642.5(LARGE1):c.2153G>C (p.Arg718Pro)
|
rs1263627262
|
|
|
NM_133642.5(LARGE1):c.2160C>T (p.Asn720=)
|
|
|
|
NM_133642.5(LARGE1):c.2166A>G (p.Gln722=)
|
|
|
|
NM_133642.5(LARGE1):c.216G>T (p.Val72=)
|
rs567998643
|
|
|
NM_133642.5(LARGE1):c.2171G>A (p.Arg724His)
|
rs376907568
|
|
|
NM_133642.5(LARGE1):c.2175C>G (p.Ile725Met)
|
rs1928785534
|
|
|
NM_133642.5(LARGE1):c.2181C>G (p.Leu727=)
|
|
|
|
NM_133642.5(LARGE1):c.2190C>T (p.Leu730=)
|
|
|
|
NM_133642.5(LARGE1):c.2196A>G (p.Glu732=)
|
|
|
|
NM_133642.5(LARGE1):c.21G>A (p.Gly7=)
|
|
|
|
NM_133642.5(LARGE1):c.21G>T (p.Gly7=)
|
rs2084726573
|
|
|
NM_133642.5(LARGE1):c.2206C>G (p.Gln736Glu)
|
rs2145801430
|
|
|
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys)
|
rs757062605
|
|
|
NM_133642.5(LARGE1):c.2212A>G (p.Met738Val)
|
rs1928773545
|
|
|
NM_133642.5(LARGE1):c.2217C>G (p.Ser739=)
|
rs1406330296
|
|
|
NM_133642.5(LARGE1):c.2219G>A (p.Arg740His)
|
|
|
|
NM_133642.5(LARGE1):c.2221C>T (p.Arg741Cys)
|
|
|
|
NM_133642.5(LARGE1):c.2247T>C (p.Tyr749=)
|
|
|
|
NM_133642.5(LARGE1):c.2253A>G (p.Thr751=)
|
|
|
|
NM_133642.5(LARGE1):c.2256C>A (p.Ala752=)
|
rs114246562
|
|
|
NM_133642.5(LARGE1):c.225G>A (p.Glu75=)
|
|
|
|
NM_133642.5(LARGE1):c.2261ACA[1] (p.Asn755del)
|
|
|
|
NM_133642.5(LARGE1):c.2262C>T (p.Asn754=)
|
|
|
|
NM_133642.5(LARGE1):c.2271G>A (p.Ter757=)
|
|
|
|
NM_133642.5(LARGE1):c.229C>G (p.Arg77Gly)
|
|
|
|
NM_133642.5(LARGE1):c.231C>T (p.Arg77=)
|
|
|
|
NM_133642.5(LARGE1):c.234C>T (p.Ala78=)
|
|
|
|
NM_133642.5(LARGE1):c.237C>T (p.Leu79=)
|
|
|
|
NM_133642.5(LARGE1):c.241A>C (p.Arg81=)
|
|
|
|
NM_133642.5(LARGE1):c.246G>T (p.Gln82His)
|
rs768234422
|
|
|
NM_133642.5(LARGE1):c.247C>T (p.Leu83Phe)
|
rs748795300
|
|
|
NM_133642.5(LARGE1):c.24A>G (p.Arg8=)
|
|
|
|
NM_133642.5(LARGE1):c.251G>T (p.Ser84Ile)
|
rs398124184
|
|
|
NM_133642.5(LARGE1):c.254_259dup (p.Leu85_Ala86dup)
|
rs759978690
|
|
|
NM_133642.5(LARGE1):c.255G>A (p.Leu85=)
|
|
|
|
NM_133642.5(LARGE1):c.265C>T (p.Arg89Ter)
|
rs1359437833
|
|
|
NM_133642.5(LARGE1):c.276C>G (p.Ser92=)
|
|
|
|
NM_133642.5(LARGE1):c.27G>A (p.Arg9=)
|
rs2145729287
|
|
|
NM_133642.5(LARGE1):c.281G>A (p.Arg94His)
|
rs754383742
|
|
|
NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter)
|
rs761071115
|
|
|
NM_133642.5(LARGE1):c.287G>A (p.Gly96Asp)
|
rs1569341949
|
|
|
NM_133642.5(LARGE1):c.297C>T (p.Ser99=)
|
|
|
|
NM_133642.5(LARGE1):c.303C>T (p.Thr101=)
|
|
|
|
NM_133642.5(LARGE1):c.321C>T (p.Gly107=)
|
|
|
|
NM_133642.5(LARGE1):c.326G>C (p.Gly109Ala)
|
rs2149181937
|
|
|
NM_133642.5(LARGE1):c.334G>T (p.Glu112Ter)
|
rs146078928
|
|
|
NM_133642.5(LARGE1):c.336G>A (p.Glu112=)
|
rs1555983855
|
|
|
NM_133642.5(LARGE1):c.336G>T (p.Glu112Asp)
|
rs1555983855
|
|
|
NM_133642.5(LARGE1):c.344G>T (p.Arg115Leu)
|
rs755087786
|
|
|
NM_133642.5(LARGE1):c.351C>T (p.Gly117=)
|
|
|
|
NM_133642.5(LARGE1):c.354C>T (p.Ile118=)
|
|
|
|
NM_133642.5(LARGE1):c.357G>T (p.Val119=)
|
|
|
|
NM_133642.5(LARGE1):c.366C>A (p.Asn122Lys)
|
rs2080759268
|
|
|
NM_133642.5(LARGE1):c.36G>A (p.Leu12=)
|
rs1601552169
|
|
|
NM_133642.5(LARGE1):c.372C>T (p.Ser124=)
|
|
|
|
NM_133642.5(LARGE1):c.374A>T (p.Glu125Val)
|
|
|
|
NM_133642.5(LARGE1):c.390G>A (p.Pro130=)
|
rs114558328
|
|
|
NM_133642.5(LARGE1):c.392T>C (p.Val131Ala)
|
|
|
|
NM_133642.5(LARGE1):c.394G>A (p.Val132Met)
|
rs913704656
|
|
|
NM_133642.5(LARGE1):c.405C>T (p.Cys135=)
|
|
|
|
NM_133642.5(LARGE1):c.408+17G>A
|
|
|
|
NM_133642.5(LARGE1):c.408+18C>T
|
|
|
|
NM_133642.5(LARGE1):c.408+19C>T
|
|
|
|
NM_133642.5(LARGE1):c.408+5A>G
|
|
|
|
NM_133642.5(LARGE1):c.409-15T>A
|
|
|
|
NM_133642.5(LARGE1):c.409-16C>T
|
|
|
|
NM_133642.5(LARGE1):c.420T>C (p.Val140=)
|
|
|
|
NM_133642.5(LARGE1):c.421G>A (p.Ala141Thr)
|
|
|
|
NM_133642.5(LARGE1):c.426T>C (p.Ile142=)
|
rs745996591
|
|
|
NM_133642.5(LARGE1):c.438A>C (p.Gly146=)
|
|
|
|
NM_133642.5(LARGE1):c.443A>G (p.Asn148Ser)
|
|
|
|
NM_133642.5(LARGE1):c.445G>T (p.Ala149Ser)
|
|
|
|
NM_133642.5(LARGE1):c.447C>G (p.Ala149=)
|
|
|
|
NM_133642.5(LARGE1):c.45G>T (p.Ser15=)
|
|
|
|
NM_133642.5(LARGE1):c.465C>T (p.Thr155=)
|
|
|
|
NM_133642.5(LARGE1):c.468G>C (p.Leu156=)
|
|
|
|
NM_133642.5(LARGE1):c.473A>C (p.Lys158Thr)
|
|
|
|
NM_133642.5(LARGE1):c.479T>G (p.Val160Gly)
|
rs1372134080
|
|
|
NM_133642.5(LARGE1):c.47T>G (p.Leu16Trp)
|
rs2145729155
|
|
|
NM_133642.5(LARGE1):c.483G>A (p.Leu161=)
|
rs987732719
|
|
|
NM_133642.5(LARGE1):c.483del (p.Phe162fs)
|
|
|
|
NM_133642.5(LARGE1):c.488A>G (p.His163Arg)
|
rs2149076676
|
|
|
NM_133642.5(LARGE1):c.491+11C>T
|
rs781066281
|
|
|
NM_133642.5(LARGE1):c.491+14C>A
|
|
|
|
NM_133642.5(LARGE1):c.491+14C>G
|
|
|
|
NM_133642.5(LARGE1):c.491+19C>G
|
|
|
|
NM_133642.5(LARGE1):c.491+19C>T
|
|
|
|
NM_133642.5(LARGE1):c.491+20T>C
|
|
|
|
NM_133642.5(LARGE1):c.491+20T>G
|
|
|
|
NM_133642.5(LARGE1):c.491+9A>G
|
|
|
|
NM_133642.5(LARGE1):c.492-14C>A
|
rs2079201212
|
|
|
NM_133642.5(LARGE1):c.492-20C>T
|
rs373205336
|
|
|
NM_133642.5(LARGE1):c.492-4A>G
|
|
|
|
NM_133642.5(LARGE1):c.492-5C>T
|
|
|
|
NM_133642.5(LARGE1):c.492-6C>T
|
|
|
|
NM_133642.5(LARGE1):c.493C>T (p.Arg165Trp)
|
rs765312193
|
|
|
NM_133642.5(LARGE1):c.495G>T (p.Arg165=)
|
|
|
|
NM_133642.5(LARGE1):c.512A>G (p.His171Arg)
|
rs2148979441
|
|
|
NM_133642.5(LARGE1):c.525C>T (p.Asp175=)
|
rs2148979372
|
|
|
NM_133642.5(LARGE1):c.528C>T (p.Ser176=)
|
|
|
|
NM_133642.5(LARGE1):c.52C>T (p.Leu18Phe)
|
|
|
|
NM_133642.5(LARGE1):c.534G>A (p.Ala178=)
|
|
|
|
NM_133642.5(LARGE1):c.542T>A (p.Ile181Asn)
|
rs2079198073
|
|
|
NM_133642.5(LARGE1):c.543C>T (p.Ile181=)
|
rs1478658613
|
|
|
NM_133642.5(LARGE1):c.555C>G (p.Leu185=)
|
|
|
|
NM_133642.5(LARGE1):c.569T>A (p.Met190Lys)
|
rs2079196838
|
|
|
NM_133642.5(LARGE1):c.573G>C (p.Val191=)
|
rs2148979075
|
|
|
NM_133642.5(LARGE1):c.576C>G (p.Pro192=)
|
|
|
|
NM_133642.5(LARGE1):c.57C>T (p.Leu19=)
|
rs1366657966
|
|
|
NM_133642.5(LARGE1):c.588G>A (p.Val196=)
|
|
|
|
NM_133642.5(LARGE1):c.592T>A (p.Phe198Ile)
|
rs2148978976
|
|
|
NM_133642.5(LARGE1):c.594C>A (p.Phe198Leu)
|
|
|
|
NM_133642.5(LARGE1):c.599A>G (p.Asn200Ser)
|
rs2148978936
|
|
|
NM_133642.5(LARGE1):c.606C>G (p.Asp202Glu)
|
rs759394642
|
|
|
NM_133642.5(LARGE1):c.615+10G>A
|
|
|
|
NM_133642.5(LARGE1):c.615+12A>T
|
|
|
|
NM_133642.5(LARGE1):c.615+15G>A
|
|
|
|
NM_133642.5(LARGE1):c.615+19G>A
|
|
|
|
NM_133642.5(LARGE1):c.615+7G>A
|
|
|
|
NM_133642.5(LARGE1):c.615+7dup
|
|
|
|
NM_133642.5(LARGE1):c.616-13T>G
|
|
|
|
NM_133642.5(LARGE1):c.616-14C>A
|
|
|
|
NM_133642.5(LARGE1):c.616-18C>G
|
|
|
|
NM_133642.5(LARGE1):c.616-20C>A
|
rs1235764173
|
|
|
NM_133642.5(LARGE1):c.616-20C>T
|
|
|
|
NM_133642.5(LARGE1):c.616-26CT[6]
|
|
|
|
NM_133642.5(LARGE1):c.616-4C>G
|
|
|
|
NM_133642.5(LARGE1):c.616-7T>G
|
|
|
|
NM_133642.5(LARGE1):c.620_621del (p.Glu207fs)
|
rs2148785084
|
|
|
NM_133642.5(LARGE1):c.621A>C (p.Glu207Asp)
|
rs926834717
|
|
|
NM_133642.5(LARGE1):c.624T>A (p.Val208=)
|
|
|
|
NM_133642.5(LARGE1):c.639T>C (p.Asn213=)
|
|
|
|
NM_133642.5(LARGE1):c.642A>G (p.Lys214=)
|
|
|
|
NM_133642.5(LARGE1):c.660T>C (p.Tyr220=)
|
|
|
|
NM_133642.5(LARGE1):c.681G>C (p.Leu227=)
|
|
|
|
NM_133642.5(LARGE1):c.684C>G (p.Thr228=)
|
|
|
|
NM_133642.5(LARGE1):c.690T>A (p.Thr230=)
|
|
|
|
NM_133642.5(LARGE1):c.690T>C (p.Thr230=)
|
rs753562472
|
|
|
NM_133642.5(LARGE1):c.691C>A (p.Leu231Ile)
|
|
|
|
NM_133642.5(LARGE1):c.696T>C (p.Pro232=)
|
|
|
|
NM_133642.5(LARGE1):c.6G>A (p.Leu2=)
|
|
|
|
NM_133642.5(LARGE1):c.705G>A (p.Leu235=)
|
|
|
|
NM_133642.5(LARGE1):c.720C>T (p.Val240=)
|
|
|
|
NM_133642.5(LARGE1):c.728C>T (p.Thr243Met)
|
|
|
|
NM_133642.5(LARGE1):c.72C>T (p.Ile24=)
|
rs727503994
|
|
|
NM_133642.5(LARGE1):c.731A>G (p.Asp244Gly)
|
|
|
|
NM_133642.5(LARGE1):c.73A>G (p.Thr25Ala)
|
rs1556032013
|
|
|
NM_133642.5(LARGE1):c.746C>A (p.Thr249Asn)
|
rs1256101536
|
|
|
NM_133642.5(LARGE1):c.750C>T (p.Asp250=)
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NM_133642.5(LARGE1):c.752T>A (p.Ile251Asn)
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rs2077976439
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NM_133642.5(LARGE1):c.756A>G (p.Ala252=)
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NM_133642.5(LARGE1):c.774C>T (p.Phe258=)
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NM_133642.5(LARGE1):c.780G>A (p.Lys260=)
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NM_133642.5(LARGE1):c.784A>G (p.Lys262Glu)
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NM_133642.5(LARGE1):c.787+11C>T
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NM_133642.5(LARGE1):c.787+17C>G
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NM_133642.5(LARGE1):c.787+17C>T
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NM_133642.5(LARGE1):c.787+18G>A
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NM_133642.5(LARGE1):c.787+20T>G
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NM_133642.5(LARGE1):c.787+5T>C
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rs763571538
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NM_133642.5(LARGE1):c.788-11G>A
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NM_133642.5(LARGE1):c.788-11G>T
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NM_133642.5(LARGE1):c.788-15C>T
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NM_133642.5(LARGE1):c.788-17T>A
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rs764260251
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NM_133642.5(LARGE1):c.788-17T>C
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NM_133642.5(LARGE1):c.788-18A>G
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NM_133642.5(LARGE1):c.788-2A>G
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NM_133642.5(LARGE1):c.788-5_826del
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rs2147722687
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NM_133642.5(LARGE1):c.788-8C>T
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NM_133642.5(LARGE1):c.801G>C (p.Leu267=)
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NM_133642.5(LARGE1):c.804C>A (p.Gly268=)
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NM_133642.5(LARGE1):c.807G>A (p.Leu269=)
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NM_133642.5(LARGE1):c.856C>T (p.Arg286Cys)
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NM_133642.5(LARGE1):c.861A>G (p.Pro287=)
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rs1257326994
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NM_133642.5(LARGE1):c.861A>T (p.Pro287=)
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NM_133642.5(LARGE1):c.864G>A (p.Trp288Ter)
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NM_133642.5(LARGE1):c.872T>A (p.Leu291His)
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NM_133642.5(LARGE1):c.87G>A (p.Leu29=)
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NM_133642.5(LARGE1):c.87G>C (p.Leu29=)
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rs2145728903
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NM_133642.5(LARGE1):c.885C>T (p.Tyr295=)
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rs1601816355
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NM_133642.5(LARGE1):c.892+11A>G
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NM_133642.5(LARGE1):c.892+11_892+12del
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NM_133642.5(LARGE1):c.892+19A>C
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NM_133642.5(LARGE1):c.892+7C>A
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NM_133642.5(LARGE1):c.892+8C>T
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NM_133642.5(LARGE1):c.893-10T>C
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NM_133642.5(LARGE1):c.893-13T>C
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NM_133642.5(LARGE1):c.893-14G>A
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NM_133642.5(LARGE1):c.893-15T>G
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NM_133642.5(LARGE1):c.893-16C>T
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NM_133642.5(LARGE1):c.893-19A>T
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NM_133642.5(LARGE1):c.893-21_893-20del
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NM_133642.5(LARGE1):c.893-7T>C
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NM_133642.5(LARGE1):c.893-9_893-8insATCCTGTGCTGCTGCCCAGGGGTG
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NM_133642.5(LARGE1):c.895G>A (p.Val299Met)
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rs1490201857
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NM_133642.5(LARGE1):c.897G>C (p.Val299=)
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rs532067255
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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.912G>A (p.Leu304=)
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NM_133642.5(LARGE1):c.919C>T (p.Leu307=)
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NM_133642.5(LARGE1):c.922C>A (p.Arg308=)
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NM_133642.5(LARGE1):c.922_923delinsAA (p.Arg308Lys)
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rs2147135450
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NM_133642.5(LARGE1):c.924G>A (p.Arg308=)
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rs528836583
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NM_133642.5(LARGE1):c.933A>G (p.Lys311=)
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NM_133642.5(LARGE1):c.939G>A (p.Glu313=)
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NM_133642.5(LARGE1):c.940C>G (p.Gln314Glu)
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rs559892854
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NM_133642.5(LARGE1):c.941_945dup (p.Trp316fs)
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NM_133642.5(LARGE1):c.942G>T (p.Gln314His)
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rs776701293
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NM_133642.5(LARGE1):c.957C>A (p.Thr319=)
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rs778094231
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NM_133642.5(LARGE1):c.958G>T (p.Ala320Ser)
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rs374774937
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NM_133642.5(LARGE1):c.963G>A (p.Glu321=)
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NM_133642.5(LARGE1):c.969G>T (p.Glu323Asp)
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rs2065251813
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NM_133642.5(LARGE1):c.96del (p.Ser33fs)
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NM_133642.5(LARGE1):c.972C>T (p.Leu324=)
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NM_133642.5(LARGE1):c.974T>C (p.Met325Thr)
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rs2065251491
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NM_133642.5(LARGE1):c.978C>T (p.Gly326=)
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rs2065251221
|
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NM_133642.5(LARGE1):c.984C>G (p.Leu328=)
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NM_133642.5(LARGE1):c.987T>C (p.Ser329=)
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NM_133642.5(LARGE1):c.992C>T (p.Ser331Phe)
|
rs267607210
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