NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
NM_133642.5(LARGE1):c.2073+152G>A
|
rs2075921
|
0.04155
|
NM_133642.5(LARGE1):c.1731-24T>C
|
rs73399532
|
0.03540
|
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.1452-293A>G
|
rs1555007
|
0.02310
|
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.408+269G>A
|
rs16992701
|
0.01756
|
NM_133642.5(LARGE1):c.788-65A>G
|
rs80069366
|
0.01526
|
NM_133642.5(LARGE1):c.165G>C (p.Thr55=)
|
rs63446460
|
0.01465
|
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.552G>A (p.Thr184=)
|
rs8142483
|
0.00887
|
NM_133642.5(LARGE1):c.2073+36C>T
|
rs41302579
|
0.00883
|
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.*1235A>G
|
rs1801820
|
0.00578
|
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.-83+63202T>G
|
rs147343461
|
0.00215
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
NM_133642.5(LARGE1):c.-83+63246C>T
|
rs142710671
|
0.00158
|
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)
|
rs115076367
|
0.00140
|
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.409-19C>T
|
rs374692757
|
0.00041
|
NM_133642.5(LARGE1):c.*796C>T
|
rs144150303
|
0.00035
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
NM_133642.5(LARGE1):c.1878-11G>T
|
rs200819807
|
0.00025
|
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.409-21C>T
|
rs149859888
|
0.00021
|
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.1892C>T (p.Thr631Met)
|
rs368043810
|
0.00016
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
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.708G>A (p.Glu236=)
|
rs202028671
|
0.00011
|
NM_133642.5(LARGE1):c.787+14del
|
rs757463406
|
0.00011
|
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=)
|
rs369773678
|
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.1005+17G>A
|
rs371887551
|
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.252C>T (p.Ser84=)
|
rs56202589
|
0.00006
|
NM_133642.5(LARGE1):c.534G>C (p.Ala178=)
|
rs772655607
|
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.-82-19T>C
|
rs768214949
|
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.1451+11C>T
|
rs201322547
|
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.259C>A (p.Gln87Lys)
|
rs373853930
|
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.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.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.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.63C>A (p.Ile21=)
|
rs759218415
|
0.00003
|
NM_133642.5(LARGE1):c.957C>T (p.Thr319=)
|
rs778094231
|
0.00003
|
NM_133642.5(LARGE1):c.-83+63195C>A
|
rs1326085467
|
0.00002
|
NM_133642.5(LARGE1):c.107-8C>T
|
rs1006989010
|
0.00002
|
NM_133642.5(LARGE1):c.1132-8C>T
|
rs748964975
|
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.1785C>T (p.Pro595=)
|
rs751341620
|
0.00002
|
NM_133642.5(LARGE1):c.1878-24A>G
|
rs375863881
|
0.00002
|
NM_133642.5(LARGE1):c.1965C>T (p.Ala655=)
|
rs368632863
|
0.00002
|
NM_133642.5(LARGE1):c.2169C>T (p.Tyr723=)
|
rs1000835027
|
0.00002
|
NM_133642.5(LARGE1):c.408+7G>A
|
rs371246157
|
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.606C>T (p.Asp202=)
|
rs759394642
|
0.00002
|
NM_133642.5(LARGE1):c.615+8C>T
|
rs587783731
|
0.00002
|
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.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.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.1416G>A (p.Thr472=)
|
rs755991003
|
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.1557C>T (p.Gly519=)
|
rs763782820
|
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.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.2074-6T>C
|
rs775368005
|
0.00001
|
NM_133642.5(LARGE1):c.219G>A (p.Glu73=)
|
rs2080766768
|
0.00001
|
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr)
|
rs398124184
|
0.00001
|
NM_133642.5(LARGE1):c.276C>T (p.Ser92=)
|
rs759755959
|
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.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.492-6C>G
|
rs762612242
|
0.00001
|
NM_133642.5(LARGE1):c.546G>A (p.Leu182=)
|
rs755661957
|
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.787+14A>T
|
rs776201139
|
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.904T>C (p.Leu302=)
|
rs755445182
|
0.00001
|
NM_133642.5(LARGE1):c.942G>A (p.Gln314=)
|
rs776701293
|
0.00001
|
GRCh37/hg19 22q12.3(chr22:33923345-33983594)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33932070-34315594)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34098416-34197367)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34130912-34188220)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34146948-34311815)x3
|
|
|
GRCh37/hg19 22q12.3(chr22:34287350-34315294)x3
|
|
|
NM_133642.5(LARGE1):c.-82-16_-82-15del
|
rs1556032157
|
|
NM_133642.5(LARGE1):c.-83+63247G>A
|
rs917246646
|
|
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+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.1029A>G (p.Lys343=)
|
|
|
NM_133642.5(LARGE1):c.102C>T (p.Phe34=)
|
|
|
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+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.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+15G>C
|
|
|
NM_133642.5(LARGE1):c.1131+16G>T
|
|
|
NM_133642.5(LARGE1):c.1131+17G>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.1132-4C>A
|
|
|
NM_133642.5(LARGE1):c.1132-4C>T
|
|
|
NM_133642.5(LARGE1):c.1132-5G>T
|
|
|
NM_133642.5(LARGE1):c.1140C>T (p.His380=)
|
|
|
NM_133642.5(LARGE1):c.1170G>A (p.Lys390=)
|
|
|
NM_133642.5(LARGE1):c.1176G>A (p.Lys392=)
|
|
|
NM_133642.5(LARGE1):c.117C>A (p.Pro39=)
|
rs140622529
|
|
NM_133642.5(LARGE1):c.1185G>A (p.Glu395=)
|
rs1431706655
|
|
NM_133642.5(LARGE1):c.1200C>G (p.Leu400=)
|
|
|
NM_133642.5(LARGE1):c.1206G>A (p.Leu402=)
|
rs982770696
|
|
NM_133642.5(LARGE1):c.120G>A (p.Val40=)
|
|
|
NM_133642.5(LARGE1):c.1224C>T (p.Asp408=)
|
|
|
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.1254C>T (p.Gly418=)
|
|
|
NM_133642.5(LARGE1):c.1257C>T (p.Cys419=)
|
|
|
NM_133642.5(LARGE1):c.1272T>C (p.Asp424=)
|
|
|
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.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.129A>G (p.Ser43=)
|
|
|
NM_133642.5(LARGE1):c.1314C>T (p.Asp438=)
|
|
|
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.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.1392G>A (p.Glu464=)
|
|
|
NM_133642.5(LARGE1):c.1419C>T (p.Asp473=)
|
|
|
NM_133642.5(LARGE1):c.1428G>A (p.Leu476=)
|
|
|
NM_133642.5(LARGE1):c.1431C>G (p.Val477=)
|
rs987466965
|
|
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.1452-1058A>T
|
|
|
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.1452-28C>T
|
rs76647066
|
|
NM_133642.5(LARGE1):c.1452-7C>T
|
rs760909985
|
|
NM_133642.5(LARGE1):c.1452-9C>A
|
|
|
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.1488G>A (p.Glu496=)
|
|
|
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.1536G>A (p.Gln512=)
|
|
|
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.1551A>G (p.Ala517=)
|
rs2146165347
|
|
NM_133642.5(LARGE1):c.1554G>A (p.Gln518=)
|
|
|
NM_133642.5(LARGE1):c.1566G>A (p.Val522=)
|
|
|
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.1602G>A (p.Val534=)
|
|
|
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.1656G>A (p.Lys552=)
|
rs138573955
|
|
NM_133642.5(LARGE1):c.1659C>T (p.His553=)
|
|
|
NM_133642.5(LARGE1):c.1683G>A (p.Leu561=)
|
rs2146163430
|
|
NM_133642.5(LARGE1):c.16A>C (p.Arg6=)
|
rs886038552
|
|
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+7A>C
|
|
|
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.1731-10C>T
|
rs772579469
|
|
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.1761C>T (p.Asn587=)
|
|
|
NM_133642.5(LARGE1):c.1770A>G (p.Lys590=)
|
|
|
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.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.1851G>A (p.Leu617=)
|
|
|
NM_133642.5(LARGE1):c.1863C>A (p.Thr621=)
|
rs1602229376
|
|
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.1884C>T (p.His628=)
|
rs78223631
|
|
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.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.1920C>G (p.Ala640=)
|
|
|
NM_133642.5(LARGE1):c.1932C>G (p.Thr644=)
|
|
|
NM_133642.5(LARGE1):c.1947C>T (p.Tyr649=)
|
|
|
NM_133642.5(LARGE1):c.1948C>A (p.Arg650=)
|
|
|
NM_133642.5(LARGE1):c.1956G>A (p.Glu652=)
|
|
|
NM_133642.5(LARGE1):c.1977G>A (p.Pro659=)
|
rs768565081
|
|
NM_133642.5(LARGE1):c.198G>A (p.Glu66=)
|
|
|
NM_133642.5(LARGE1):c.1998C>T (p.Asp666=)
|
|
|
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>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.2079T>C (p.Tyr693=)
|
rs996290544
|
|
NM_133642.5(LARGE1):c.2091G>A (p.Val697=)
|
rs2145802982
|
|
NM_133642.5(LARGE1):c.2097C>T (p.Pro699=)
|
|
|
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.2160C>T (p.Asn720=)
|
|
|
NM_133642.5(LARGE1):c.2166A>G (p.Gln722=)
|
|
|
NM_133642.5(LARGE1):c.216G>C (p.Val72=)
|
rs567998643
|
|
NM_133642.5(LARGE1):c.216G>T (p.Val72=)
|
rs567998643
|
|
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.2217C>G (p.Ser739=)
|
rs1406330296
|
|
NM_133642.5(LARGE1):c.2247T>C (p.Tyr749=)
|
|
|
NM_133642.5(LARGE1):c.2253A>G (p.Thr751=)
|
|
|
NM_133642.5(LARGE1):c.225G>A (p.Glu75=)
|
|
|
NM_133642.5(LARGE1):c.2262C>T (p.Asn754=)
|
|
|
NM_133642.5(LARGE1):c.2271G>A (p.Ter757=)
|
|
|
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.24A>G (p.Arg8=)
|
|
|
NM_133642.5(LARGE1):c.255G>A (p.Leu85=)
|
|
|
NM_133642.5(LARGE1):c.276C>G (p.Ser92=)
|
|
|
NM_133642.5(LARGE1):c.27G>A (p.Arg9=)
|
rs2145729287
|
|
NM_133642.5(LARGE1):c.297C>T (p.Ser99=)
|
|
|
NM_133642.5(LARGE1):c.303C>T (p.Thr101=)
|
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|
NM_133642.5(LARGE1):c.321C>T (p.Gly107=)
|
|
|
NM_133642.5(LARGE1):c.336G>A (p.Glu112=)
|
rs1555983855
|
|
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.36G>A (p.Leu12=)
|
rs1601552169
|
|
NM_133642.5(LARGE1):c.372C>T (p.Ser124=)
|
|
|
NM_133642.5(LARGE1):c.390G>A (p.Pro130=)
|
rs114558328
|
|
NM_133642.5(LARGE1):c.405C>T (p.Cys135=)
|
|
|
NM_133642.5(LARGE1):c.408+17G>A
|
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NM_133642.5(LARGE1):c.408+18C>T
|
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NM_133642.5(LARGE1):c.408+19C>T
|
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NM_133642.5(LARGE1):c.409-15T>A
|
|
|
NM_133642.5(LARGE1):c.409-16C>T
|
|
|
NM_133642.5(LARGE1):c.409-39G>C
|
rs145859359
|
|
NM_133642.5(LARGE1):c.420T>C (p.Val140=)
|
|
|
NM_133642.5(LARGE1):c.426T>C (p.Ile142=)
|
rs745996591
|
|
NM_133642.5(LARGE1):c.438A>C (p.Gly146=)
|
|
|
NM_133642.5(LARGE1):c.447C>G (p.Ala149=)
|
|
|
NM_133642.5(LARGE1):c.45G>T (p.Ser15=)
|
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|
NM_133642.5(LARGE1):c.465C>T (p.Thr155=)
|
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|
NM_133642.5(LARGE1):c.468G>C (p.Leu156=)
|
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|
NM_133642.5(LARGE1):c.483G>A (p.Leu161=)
|
rs987732719
|
|
NM_133642.5(LARGE1):c.491+11C>T
|
rs781066281
|
|
NM_133642.5(LARGE1):c.491+14C>A
|
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NM_133642.5(LARGE1):c.491+14C>G
|
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NM_133642.5(LARGE1):c.491+19C>G
|
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|
NM_133642.5(LARGE1):c.491+19C>T
|
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NM_133642.5(LARGE1):c.491+20T>C
|
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|
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.495G>T (p.Arg165=)
|
|
|
NM_133642.5(LARGE1):c.525C>T (p.Asp175=)
|
rs2148979372
|
|
NM_133642.5(LARGE1):c.528C>T (p.Ser176=)
|
|
|
NM_133642.5(LARGE1):c.534G>A (p.Ala178=)
|
|
|
NM_133642.5(LARGE1):c.543C>T (p.Ile181=)
|
rs1478658613
|
|
NM_133642.5(LARGE1):c.549C>T (p.Ala183=)
|
rs1602669837
|
|
NM_133642.5(LARGE1):c.555C>G (p.Leu185=)
|
|
|
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.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.616-39del
|
rs201800550
|
|
NM_133642.5(LARGE1):c.616-4C>G
|
|
|
NM_133642.5(LARGE1):c.616-7T>G
|
|
|
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.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.72C>T (p.Ile24=)
|
rs727503994
|
|
NM_133642.5(LARGE1):c.750C>T (p.Asp250=)
|
|
|
NM_133642.5(LARGE1):c.756A>G (p.Ala252=)
|
|
|
NM_133642.5(LARGE1):c.774C>T (p.Phe258=)
|
|
|
NM_133642.5(LARGE1):c.780G>A (p.Lys260=)
|
|
|
NM_133642.5(LARGE1):c.787+11C>T
|
|
|
NM_133642.5(LARGE1):c.787+17C>G
|
|
|
NM_133642.5(LARGE1):c.787+17C>T
|
|
|
NM_133642.5(LARGE1):c.787+18G>A
|
|
|
NM_133642.5(LARGE1):c.787+20T>G
|
|
|
NM_133642.5(LARGE1):c.787+5T>C
|
rs763571538
|
|
NM_133642.5(LARGE1):c.788-11G>A
|
|
|
NM_133642.5(LARGE1):c.788-11G>T
|
|
|
NM_133642.5(LARGE1):c.788-15C>T
|
|
|
NM_133642.5(LARGE1):c.788-17T>A
|
rs764260251
|
|
NM_133642.5(LARGE1):c.788-17T>C
|
|
|
NM_133642.5(LARGE1):c.788-18A>G
|
|
|
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGCATGA
|
rs146169927
|
|
NM_133642.5(LARGE1):c.788-333ATGA[11]
|
rs10626676
|
|
NM_133642.5(LARGE1):c.788-346CATG[5]
|
rs1555916106
|
|
NM_133642.5(LARGE1):c.788-8C>T
|
|
|
NM_133642.5(LARGE1):c.801G>C (p.Leu267=)
|
|
|
NM_133642.5(LARGE1):c.804C>A (p.Gly268=)
|
|
|
NM_133642.5(LARGE1):c.807G>A (p.Leu269=)
|
|
|
NM_133642.5(LARGE1):c.861A>G (p.Pro287=)
|
rs1257326994
|
|
NM_133642.5(LARGE1):c.861A>T (p.Pro287=)
|
|
|
NM_133642.5(LARGE1):c.87G>A (p.Leu29=)
|
|
|
NM_133642.5(LARGE1):c.87G>C (p.Leu29=)
|
rs2145728903
|
|
NM_133642.5(LARGE1):c.885C>T (p.Tyr295=)
|
rs1601816355
|
|
NM_133642.5(LARGE1):c.892+11A>G
|
|
|
NM_133642.5(LARGE1):c.892+11_892+12del
|
|
|
NM_133642.5(LARGE1):c.892+19A>C
|
|
|
NM_133642.5(LARGE1):c.892+7C>A
|
|
|
NM_133642.5(LARGE1):c.892+8C>T
|
|
|
NM_133642.5(LARGE1):c.893-10T>C
|
|
|
NM_133642.5(LARGE1):c.893-10_893-7del
|
|
|
NM_133642.5(LARGE1):c.893-13T>C
|
|
|
NM_133642.5(LARGE1):c.893-14G>A
|
|
|
NM_133642.5(LARGE1):c.893-15T>G
|
|
|
NM_133642.5(LARGE1):c.893-16C>T
|
|
|
NM_133642.5(LARGE1):c.893-19A>T
|
|
|
NM_133642.5(LARGE1):c.893-21_893-20del
|
|
|
NM_133642.5(LARGE1):c.893-4C>A
|
|
|
NM_133642.5(LARGE1):c.893-7T>C
|
|
|
NM_133642.5(LARGE1):c.909T>G (p.Leu303=)
|
rs563144239
|
|
NM_133642.5(LARGE1):c.912G>A (p.Leu304=)
|
|
|
NM_133642.5(LARGE1):c.919C>T (p.Leu307=)
|
|
|
NM_133642.5(LARGE1):c.922C>A (p.Arg308=)
|
|
|
NM_133642.5(LARGE1):c.924G>A (p.Arg308=)
|
rs528836583
|
|
NM_133642.5(LARGE1):c.933A>G (p.Lys311=)
|
|
|
NM_133642.5(LARGE1):c.939G>A (p.Glu313=)
|
|
|
NM_133642.5(LARGE1):c.957C>A (p.Thr319=)
|
rs778094231
|
|
NM_133642.5(LARGE1):c.963G>A (p.Glu321=)
|
|
|
NM_133642.5(LARGE1):c.972C>T (p.Leu324=)
|
|
|
NM_133642.5(LARGE1):c.978C>T (p.Gly326=)
|
rs2065251221
|
|
NM_133642.5(LARGE1):c.984C>G (p.Leu328=)
|
|
|
NM_133642.5(LARGE1):c.987T>C (p.Ser329=)
|
|
|