NM_001365951.3(KIF1B):c.-146C>T
|
rs867021284
|
0.00361
|
NM_014907.3(FRMPD1):c.770G>A (p.Arg257His)
|
rs148192224
|
0.00335
|
NM_001365951.3(KIF1B):c.*2268C>T
|
rs574858597
|
0.00332
|
NM_001365951.3(KIF1B):c.*281T>C
|
rs201136295
|
0.00242
|
NM_024426.6(WT1):c.309C>A (p.Gly103=)
|
rs547333427
|
0.00197
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
NM_016169.4(SUFU):c.528C>T (p.His176=)
|
rs150569584
|
0.00148
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
NM_003924.4(PHOX2B):c.*60G>A
|
rs558416040
|
0.00131
|
NM_001365951.3(KIF1B):c.*839C>T
|
rs549614550
|
0.00127
|
NM_001365951.3(KIF1B):c.*2858G>C
|
rs546229540
|
0.00104
|
NM_004304.5(ALK):c.4796C>A (p.Pro1599His)
|
rs1881423
|
0.00091
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
NM_001365951.3(KIF1B):c.*2114C>G
|
rs574859747
|
0.00077
|
NM_001365951.3(KIF1B):c.*3639T>C
|
rs551392566
|
0.00077
|
NM_003924.4(PHOX2B):c.*214A>G
|
rs994949118
|
0.00068
|
NM_032776.3(JMJD1C):c.6395A>T (p.Lys2132Ile)
|
rs200769337
|
0.00068
|
NM_001365951.3(KIF1B):c.*256A>G
|
rs547409544
|
0.00066
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
NM_016169.4(SUFU):c.*476A>G
|
rs575192580
|
0.00066
|
NM_003924.4(PHOX2B):c.*1486T>C
|
rs530550940
|
0.00065
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
NM_024426.6(WT1):c.*513C>T
|
rs575602262
|
0.00059
|
NM_004304.5(ALK):c.-415T>C
|
rs755231246
|
0.00057
|
NM_003073.5(SMARCB1):c.*159C>G
|
rs1022324232
|
0.00055
|
NM_004304.5(ALK):c.469C>T (p.Pro157Ser)
|
rs74774946
|
0.00055
|
NM_001365951.3(KIF1B):c.*3789C>T
|
rs192963286
|
0.00053
|
NM_003924.4(PHOX2B):c.*693C>T
|
rs535962589
|
0.00051
|
NM_001365951.3(KIF1B):c.*663C>T
|
rs531296689
|
0.00049
|
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val)
|
rs144370288
|
0.00048
|
NM_024426.6(WT1):c.-110C>T
|
rs886048241
|
0.00048
|
NM_004304.5(ALK):c.2754A>T (p.Arg918Ser)
|
rs770236199
|
0.00046
|
NM_016169.4(SUFU):c.*2729T>C
|
rs574630127
|
0.00045
|
NM_003640.5(ELP1):c.1309A>C (p.Asn437His)
|
rs148609833
|
0.00041
|
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)
|
rs121908162
|
0.00040
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)
|
rs147508369
|
0.00039
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
NM_024426.6(WT1):c.*460C>A
|
rs886048221
|
0.00034
|
NM_004304.5(ALK):c.-751C>T
|
rs547587734
|
0.00033
|
NM_016169.4(SUFU):c.*2956C>T
|
rs562546771
|
0.00033
|
NM_024426.6(WT1):c.-76T>C
|
rs886048235
|
0.00032
|
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)
|
rs139724817
|
0.00029
|
NM_003924.4(PHOX2B):c.*737C>T
|
rs745503233
|
0.00029
|
NM_024426.6(WT1):c.*1167T>G
|
rs771770230
|
0.00029
|
NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile)
|
rs199646095
|
0.00027
|
NM_016169.4(SUFU):c.*1936C>T
|
rs118033896
|
0.00027
|
NM_024426.6(WT1):c.1182C>T (p.Arg394=)
|
rs147939483
|
0.00027
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu)
|
rs374814563
|
0.00026
|
NM_004304.5(ALK):c.310C>T (p.Pro104Ser)
|
rs576431612
|
0.00026
|
NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser)
|
rs372612147
|
0.00026
|
NM_001365951.3(KIF1B):c.*2435C>A
|
rs546527912
|
0.00024
|
NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp)
|
rs771475772
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_004304.5(ALK):c.1100C>G (p.Pro367Arg)
|
rs144030155
|
0.00023
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)
|
rs200561798
|
0.00022
|
NM_001365951.3(KIF1B):c.*2128C>T
|
rs943700412
|
0.00021
|
NM_016169.4(SUFU):c.*1997A>G
|
rs757368847
|
0.00021
|
NM_016169.4(SUFU):c.6G>T (p.Ala2=)
|
rs746555296
|
0.00021
|
NM_024426.6(WT1):c.-106C>T
|
rs867975105
|
0.00021
|
NM_004304.5(ALK):c.1148A>T (p.Lys383Met)
|
rs140928266
|
0.00020
|
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)
|
rs765358771
|
0.00020
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_001365951.3(KIF1B):c.*2567G>C
|
rs750420134
|
0.00019
|
NM_001365951.3(KIF1B):c.1014C>T (p.Tyr338=)
|
rs150411706
|
0.00019
|
NM_024426.6(WT1):c.*534C>T
|
rs868546165
|
0.00019
|
NM_024426.6(WT1):c.124G>A (p.Gly42Ser)
|
rs762288656
|
0.00019
|
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
|
rs374404615
|
0.00019
|
NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=)
|
rs150904940
|
0.00018
|
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)
|
rs532711949
|
0.00018
|
NM_004304.5(ALK):c.3257C>T (p.Ser1086Leu)
|
rs138589984
|
0.00018
|
NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp)
|
rs143647372
|
0.00018
|
NM_024426.6(WT1):c.*666A>G
|
rs374306749
|
0.00018
|
NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)
|
rs766767855
|
0.00017
|
NM_004304.5(ALK):c.*185C>T
|
rs547955328
|
0.00016
|
NM_004304.5(ALK):c.2554A>G (p.Lys852Glu)
|
rs371441614
|
0.00016
|
NM_001365951.3(KIF1B):c.*1541C>T
|
rs368514074
|
0.00015
|
NM_001365951.3(KIF1B):c.1376G>A (p.Ser459Asn)
|
rs375389310
|
0.00015
|
NM_002253.4(KDR):c.2525G>A (p.Arg842His)
|
rs149901681
|
0.00015
|
NM_003640.5(ELP1):c.2087G>A (p.Arg696Gln)
|
rs137853022
|
0.00015
|
NM_001365951.3(KIF1B):c.*201A>G
|
rs992482431
|
0.00014
|
NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe)
|
rs202080366
|
0.00014
|
NM_004304.5(ALK):c.-896C>T
|
rs1020153617
|
0.00014
|
NM_004304.5(ALK):c.4193C>T (p.Pro1398Leu)
|
rs531490912
|
0.00014
|
NM_016169.4(SUFU):c.*721T>G
|
rs2298279
|
0.00014
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
NM_001365951.3(KIF1B):c.*3716C>T
|
rs756198031
|
0.00013
|
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu)
|
rs747626591
|
0.00013
|
NM_004304.5(ALK):c.470C>T (p.Pro157Leu)
|
rs775385954
|
0.00013
|
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)
|
rs373037272
|
0.00013
|
NM_001365951.3(KIF1B):c.*4641T>C
|
rs997748530
|
0.00012
|
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)
|
rs749154726
|
0.00012
|
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu)
|
rs138097741
|
0.00012
|
NM_003640.5(ELP1):c.2498A>C (p.His833Pro)
|
rs201714373
|
0.00012
|
NM_003640.5(ELP1):c.2920G>A (p.Ala974Thr)
|
rs151120244
|
0.00012
|
NM_004304.5(ALK):c.1918G>A (p.Gly640Arg)
|
rs144453491
|
0.00012
|
NM_004304.5(ALK):c.692C>G (p.Thr231Arg)
|
rs142120301
|
0.00012
|
NM_024426.6(WT1):c.1017-15T>C
|
rs374441355
|
0.00012
|
NM_001365951.3(KIF1B):c.*1049T>C
|
rs189075267
|
0.00011
|
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln)
|
rs139091484
|
0.00011
|
NM_003924.4(PHOX2B):c.*18G>A
|
rs776498322
|
0.00011
|
NM_003924.4(PHOX2B):c.*19C>A
|
rs770841700
|
0.00011
|
NM_004304.5(ALK):c.1108G>A (p.Glu370Lys)
|
rs373120394
|
0.00011
|
NM_004304.5(ALK):c.3599C>T (p.Ala1200Val)
|
rs200585833
|
0.00011
|
NM_004304.5(ALK):c.661G>C (p.Gly221Arg)
|
rs199584443
|
0.00011
|
NM_004304.5(ALK):c.808T>C (p.Phe270Leu)
|
rs143229596
|
0.00011
|
NM_005612.5(REST):c.2989A>G (p.Met997Val)
|
rs373733071
|
0.00011
|
NM_016169.4(SUFU):c.*1451C>T
|
rs886046659
|
0.00011
|
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser)
|
rs1265012285
|
0.00011
|
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)
|
rs368020224
|
0.00011
|
NM_024426.6(WT1):c.343C>T (p.Pro115Ser)
|
rs916583720
|
0.00011
|
NM_001365951.3(KIF1B):c.*4179A>G
|
rs184935521
|
0.00010
|
NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln)
|
rs200322331
|
0.00010
|
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys)
|
rs758924768
|
0.00010
|
NM_004304.5(ALK):c.2416C>T (p.Arg806Cys)
|
rs80227749
|
0.00010
|
NM_004304.5(ALK):c.2750C>T (p.Thr917Ile)
|
rs773447647
|
0.00010
|
NM_004304.5(ALK):c.3692G>A (p.Arg1231Gln)
|
rs200110351
|
0.00010
|
NM_004304.5(ALK):c.4028C>T (p.Thr1343Ile)
|
rs753763148
|
0.00010
|
NM_016169.4(SUFU):c.*2195G>T
|
rs781227748
|
0.00010
|
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser)
|
rs142899125
|
0.00009
|
NM_001365951.3(KIF1B):c.*1195C>T
|
rs759034681
|
0.00009
|
NM_001365951.3(KIF1B):c.*1618C>G
|
rs920003650
|
0.00009
|
NM_001365951.3(KIF1B):c.*3841G>A
|
rs765725604
|
0.00009
|
NM_001365951.3(KIF1B):c.146C>A (p.Ser49Tyr)
|
rs143654307
|
0.00009
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
NM_001365951.3(KIF1B):c.5238C>T (p.Asn1746=)
|
rs146436697
|
0.00009
|
NM_003072.5(SMARCA4):c.1812+3G>A
|
rs371562008
|
0.00009
|
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu)
|
rs371056395
|
0.00009
|
NM_003640.5(ELP1):c.3949C>A (p.Pro1317Thr)
|
rs199595486
|
0.00009
|
NM_003640.5(ELP1):c.484G>C (p.Gly162Arg)
|
rs565257577
|
0.00009
|
NM_003924.4(PHOX2B):c.*1310G>T
|
rs180795407
|
0.00009
|
NM_004304.5(ALK):c.-161T>C
|
rs886055934
|
0.00009
|
NM_004304.5(ALK):c.-490C>T
|
rs957194330
|
0.00009
|
NM_004304.5(ALK):c.1390G>A (p.Gly464Arg)
|
rs55706535
|
0.00009
|
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)
|
rs368178771
|
0.00009
|
NM_024426.6(WT1):c.1158G>A (p.Ser386=)
|
rs377446096
|
0.00009
|
NM_024426.6(WT1):c.381C>G (p.Pro127=)
|
rs771681406
|
0.00009
|
NM_024426.6(WT1):c.421C>T (p.Pro141Ser)
|
rs750548251
|
0.00009
|
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)
|
rs761343609
|
0.00008
|
NM_003073.5(SMARCB1):c.*113C>T
|
rs886057286
|
0.00008
|
NM_003640.5(ELP1):c.3917C>T (p.Ser1306Leu)
|
rs780649768
|
0.00008
|
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)
|
rs751829128
|
0.00008
|
NM_004304.5(ALK):c.-566G>T
|
rs886055937
|
0.00008
|
NM_004304.5(ALK):c.1550A>G (p.His517Arg)
|
rs367674546
|
0.00008
|
NM_004304.5(ALK):c.1999G>A (p.Gly667Arg)
|
rs539763601
|
0.00008
|
NM_004304.5(ALK):c.2275G>A (p.Val759Met)
|
rs199691702
|
0.00008
|
NM_004304.5(ALK):c.2504C>T (p.Pro835Leu)
|
rs376091121
|
0.00008
|
NM_004304.5(ALK):c.3133G>A (p.Val1045Met)
|
rs200641396
|
0.00008
|
NM_004304.5(ALK):c.3179G>A (p.Arg1060His)
|
rs769322016
|
0.00008
|
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp)
|
rs55760835
|
0.00008
|
NM_004304.5(ALK):c.3481G>A (p.Glu1161Lys)
|
rs145194836
|
0.00008
|
NM_004304.5(ALK):c.875G>A (p.Arg292His)
|
rs149145987
|
0.00008
|
NM_016169.4(SUFU):c.*907C>G
|
rs886046655
|
0.00008
|
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)
|
rs79299301
|
0.00008
|
NM_024426.6(WT1):c.314C>G (p.Ala105Gly)
|
rs948061247
|
0.00008
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)
|
rs80358912
|
0.00007
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
NM_001365951.3(KIF1B):c.*3644dup
|
rs775451005
|
0.00007
|
NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu)
|
rs371045201
|
0.00007
|
NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln)
|
rs370575901
|
0.00007
|
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys)
|
rs137983175
|
0.00007
|
NM_003640.5(ELP1):c.3454G>A (p.Gly1152Ser)
|
rs771838754
|
0.00007
|
NM_003640.5(ELP1):c.3527G>A (p.Ser1176Asn)
|
rs749668335
|
0.00007
|
NM_004304.5(ALK):c.2623G>A (p.Gly875Arg)
|
rs148001139
|
0.00007
|
NM_004304.5(ALK):c.3115G>A (p.Val1039Met)
|
rs200080181
|
0.00007
|
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)
|
rs375889530
|
0.00007
|
NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln)
|
rs72852032
|
0.00007
|
NM_004304.5(ALK):c.3877G>A (p.Val1293Ile)
|
rs1024193740
|
0.00007
|
NM_004304.5(ALK):c.925G>A (p.Ala309Thr)
|
rs145681577
|
0.00007
|
NM_016169.4(SUFU):c.625C>T (p.His209Tyr)
|
rs770678862
|
0.00007
|
NM_024426.6(WT1):c.*159G>C
|
rs746218880
|
0.00007
|
NM_024426.6(WT1):c.*574del
|
rs5030319
|
0.00007
|
NM_024426.6(WT1):c.1020C>T (p.His340=)
|
rs375114529
|
0.00007
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_001365951.3(KIF1B):c.*1134G>A
|
rs763386544
|
0.00006
|
NM_001365951.3(KIF1B):c.*1566A>T
|
rs1368795718
|
0.00006
|
NM_001365951.3(KIF1B):c.*2384A>G
|
rs1377198164
|
0.00006
|
NM_001365951.3(KIF1B):c.107-8T>A
|
rs749389756
|
0.00006
|
NM_001365951.3(KIF1B):c.4265G>A (p.Arg1422His)
|
rs149417293
|
0.00006
|
NM_003072.5(SMARCA4):c.1019C>T (p.Ala340Val)
|
rs756474511
|
0.00006
|
NM_003072.5(SMARCA4):c.104C>T (p.Ser35Leu)
|
rs563079629
|
0.00006
|
NM_003072.5(SMARCA4):c.416C>T (p.Pro139Leu)
|
rs762023872
|
0.00006
|
NM_003072.5(SMARCA4):c.4884C>G (p.Asp1628Glu)
|
rs778856307
|
0.00006
|
NM_003072.5(SMARCA4):c.79A>G (p.Met27Val)
|
rs768328175
|
0.00006
|
NM_003640.5(ELP1):c.1400C>A (p.Ala467Asp)
|
rs368040993
|
0.00006
|
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)
|
rs145484092
|
0.00006
|
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr)
|
rs61749203
|
0.00006
|
NM_003640.5(ELP1):c.80G>A (p.Arg27Gln)
|
rs375666523
|
0.00006
|
NM_003924.4(PHOX2B):c.*1627G>A
|
rs886059411
|
0.00006
|
NM_003924.4(PHOX2B):c.*1701A>G
|
rs886059409
|
0.00006
|
NM_003924.4(PHOX2B):c.-105G>A
|
rs538445545
|
0.00006
|
NM_004304.5(ALK):c.1184G>A (p.Arg395His)
|
rs769910087
|
0.00006
|
NM_004304.5(ALK):c.1235G>A (p.Arg412His)
|
rs1388736375
|
0.00006
|
NM_004304.5(ALK):c.13G>A (p.Gly5Arg)
|
rs1272214012
|
0.00006
|
NM_004304.5(ALK):c.1413C>T (p.Cys471=)
|
rs770707805
|
0.00006
|
NM_004304.5(ALK):c.1414C>G (p.Arg472Gly)
|
rs749263944
|
0.00006
|
NM_004304.5(ALK):c.2204+4C>T
|
rs201806531
|
0.00006
|
NM_004304.5(ALK):c.2633-3C>T
|
rs200341945
|
0.00006
|
NM_004304.5(ALK):c.3409G>A (p.Gly1137Arg)
|
rs762571775
|
0.00006
|
NM_004304.5(ALK):c.3516-3C>T
|
rs769293928
|
0.00006
|
NM_004304.5(ALK):c.362G>T (p.Arg121Leu)
|
rs779147984
|
0.00006
|
NM_004304.5(ALK):c.760C>T (p.Pro254Ser)
|
rs774815140
|
0.00006
|
NM_016169.4(SUFU):c.*520G>A
|
rs757315966
|
0.00006
|
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)
|
rs149449923
|
0.00006
|
NM_016169.4(SUFU):c.1273G>A (p.Ala425Thr)
|
rs748099523
|
0.00006
|
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile)
|
rs768935165
|
0.00006
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
NM_024426.6(WT1):c.-140C>T
|
rs886048244
|
0.00006
|
NM_024426.6(WT1):c.121C>T (p.Pro41Ser)
|
rs926668379
|
0.00006
|
NM_024426.6(WT1):c.162C>G (p.Ser54Arg)
|
rs776954184
|
0.00006
|
NM_024426.6(WT1):c.29C>T (p.Ala10Val)
|
rs997104313
|
0.00006
|
NM_024426.6(WT1):c.689C>T (p.Thr230Met)
|
rs777166391
|
0.00006
|
NM_024426.6(WT1):c.785G>A (p.Gly262Asp)
|
rs372225738
|
0.00006
|
NM_177438.3(DICER1):c.248A>G (p.Tyr83Cys)
|
rs373646414
|
0.00006
|
NM_000043.6(FAS):c.667A>C (p.Asn223His)
|
rs143318339
|
0.00005
|
NM_001365951.3(KIF1B):c.*2032T>A
|
rs190108168
|
0.00005
|
NM_001365951.3(KIF1B):c.*2821C>T
|
rs889285461
|
0.00005
|
NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=)
|
rs763679404
|
0.00005
|
NM_003072.5(SMARCA4):c.4823G>A (p.Arg1608Gln)
|
rs375672575
|
0.00005
|
NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr)
|
rs754831171
|
0.00005
|
NM_003924.4(PHOX2B):c.*638G>C
|
rs544491872
|
0.00005
|
NM_004304.5(ALK):c.206G>A (p.Arg69Gln)
|
rs769061878
|
0.00005
|
NM_004304.5(ALK):c.2479G>A (p.Val827Ile)
|
rs756963896
|
0.00005
|
NM_004304.5(ALK):c.3031G>A (p.Gly1011Arg)
|
rs587778021
|
0.00005
|
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln)
|
rs199987354
|
0.00005
|
NM_004304.5(ALK):c.350C>G (p.Pro117Arg)
|
rs201290745
|
0.00005
|
NM_004304.5(ALK):c.397C>T (p.Arg133Cys)
|
rs775940832
|
0.00005
|
NM_004304.5(ALK):c.44C>A (p.Ser15Tyr)
|
rs770134645
|
0.00005
|
NM_004304.5(ALK):c.49G>A (p.Ala17Thr)
|
rs369196372
|
0.00005
|
NM_004304.5(ALK):c.719A>G (p.Tyr240Cys)
|
rs550608288
|
0.00005
|
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)
|
rs761921681
|
0.00005
|
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)
|
rs141359583
|
0.00005
|
NM_024426.6(WT1):c.730T>A (p.Phe244Ile)
|
rs771455202
|
0.00005
|
NM_032444.4(SLX4):c.4712C>T (p.Thr1571Met)
|
rs765601038
|
0.00005
|
NM_177438.3(DICER1):c.*1395_*1396del
|
rs756671135
|
0.00005
|
NM_203447.4(DOCK8):c.4760T>C (p.Met1587Thr)
|
rs749789023
|
0.00005
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
0.00004
|
NM_001365951.3(KIF1B):c.*1977G>C
|
rs995729981
|
0.00004
|
NM_001365951.3(KIF1B):c.*3481T>C
|
rs1005342775
|
0.00004
|
NM_001365951.3(KIF1B):c.3456G>A (p.Thr1152=)
|
rs574168097
|
0.00004
|
NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr)
|
rs371214327
|
0.00004
|
NM_003072.5(SMARCA4):c.1847C>T (p.Pro616Leu)
|
rs755935365
|
0.00004
|
NM_003072.5(SMARCA4):c.2176C>T (p.Arg726Cys)
|
rs778049192
|
0.00004
|
NM_003072.5(SMARCA4):c.235A>G (p.Met79Val)
|
rs767638396
|
0.00004
|
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser)
|
rs766474711
|
0.00004
|
NM_003072.5(SMARCA4):c.277A>G (p.Met93Val)
|
rs777647740
|
0.00004
|
NM_003072.5(SMARCA4):c.3358G>A (p.Gly1120Ser)
|
rs373590049
|
0.00004
|
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu)
|
rs746219091
|
0.00004
|
NM_003072.5(SMARCA4):c.4119C>G (p.His1373Gln)
|
rs751704331
|
0.00004
|
NM_003072.5(SMARCA4):c.4585G>A (p.Val1529Ile)
|
rs777829717
|
0.00004
|
NM_003072.5(SMARCA4):c.4801C>T (p.Arg1601Trp)
|
rs766797299
|
0.00004
|
NM_003072.5(SMARCA4):c.4847C>T (p.Pro1616Leu)
|
rs878854234
|
0.00004
|
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met)
|
rs371832808
|
0.00004
|
NM_003072.5(SMARCA4):c.932C>G (p.Pro311Arg)
|
rs759754994
|
0.00004
|
NM_003640.5(ELP1):c.1805G>A (p.Arg602Gln)
|
rs369627815
|
0.00004
|
NM_003640.5(ELP1):c.1925C>T (p.Thr642Met)
|
rs377020122
|
0.00004
|
NM_003640.5(ELP1):c.2284G>A (p.Val762Met)
|
rs146338880
|
0.00004
|
NM_003640.5(ELP1):c.2845C>T (p.His949Tyr)
|
rs201440191
|
0.00004
|
NM_003640.5(ELP1):c.2861-12T>G
|
rs746590157
|
0.00004
|
NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)
|
rs368999377
|
0.00004
|
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala)
|
rs1286140759
|
0.00004
|
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala)
|
rs148548795
|
0.00004
|
NM_003640.5(ELP1):c.410C>A (p.Thr137Lys)
|
rs201460139
|
0.00004
|
NM_003924.3(PHOX2B):c.-195G>A
|
rs775569375
|
0.00004
|
NM_003924.4(PHOX2B):c.*1582T>C
|
rs921963841
|
0.00004
|
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)
|
rs559227588
|
0.00004
|
NM_004304.5(ALK):c.1042G>A (p.Ala348Thr)
|
rs763611527
|
0.00004
|
NM_004304.5(ALK):c.1044C>T (p.Ala348=)
|
rs200293454
|
0.00004
|
NM_004304.5(ALK):c.1045G>A (p.Val349Ile)
|
rs370848188
|
0.00004
|
NM_004304.5(ALK):c.1202G>A (p.Arg401Gln)
|
rs188859061
|
0.00004
|
NM_004304.5(ALK):c.1270A>G (p.Asn424Asp)
|
rs771340984
|
0.00004
|
NM_004304.5(ALK):c.1670G>A (p.Arg557His)
|
rs200468507
|
0.00004
|
NM_004304.5(ALK):c.1787T>C (p.Met596Thr)
|
rs754810505
|
0.00004
|
NM_004304.5(ALK):c.2258G>A (p.Arg753Gln)
|
rs187200776
|
0.00004
|
NM_004304.5(ALK):c.2417G>A (p.Arg806His)
|
rs761568836
|
0.00004
|
NM_004304.5(ALK):c.2435A>G (p.His812Arg)
|
rs866703896
|
0.00004
|
NM_004304.5(ALK):c.2546A>C (p.Tyr849Ser)
|
rs1043717591
|
0.00004
|
NM_004304.5(ALK):c.2813T>C (p.Ile938Thr)
|
rs1280047183
|
0.00004
|
NM_004304.5(ALK):c.2946G>T (p.Lys982Asn)
|
rs1344108786
|
0.00004
|
NM_004304.5(ALK):c.3025G>C (p.Asp1009His)
|
rs376962390
|
0.00004
|
NM_004304.5(ALK):c.3251G>A (p.Arg1084His)
|
rs760151617
|
0.00004
|
NM_004304.5(ALK):c.32C>T (p.Pro11Leu)
|
rs767822322
|
0.00004
|
NM_004304.5(ALK):c.3331G>T (p.Val1111Leu)
|
rs752052590
|
0.00004
|
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)
|
rs113994091
|
0.00004
|
NM_004304.5(ALK):c.3645G>A (p.Pro1215=)
|
rs775768862
|
0.00004
|
NM_004304.5(ALK):c.3646A>G (p.Ser1216Gly)
|
rs543229475
|
0.00004
|
NM_004304.5(ALK):c.383A>G (p.Lys128Arg)
|
rs756510939
|
0.00004
|
NM_004304.5(ALK):c.4214T>C (p.Val1405Ala)
|
rs777760767
|
0.00004
|
NM_004304.5(ALK):c.4238T>G (p.Val1413Gly)
|
rs779318085
|
0.00004
|
NM_004304.5(ALK):c.4530G>C (p.Trp1510Cys)
|
rs772430445
|
0.00004
|
NM_004304.5(ALK):c.4589G>A (p.Arg1530Lys)
|
rs141242925
|
0.00004
|
NM_004304.5(ALK):c.4622T>C (p.Val1541Ala)
|
rs552439944
|
0.00004
|
NM_004304.5(ALK):c.4703A>C (p.Glu1568Ala)
|
rs763613910
|
0.00004
|
NM_004304.5(ALK):c.4738G>A (p.Gly1580Arg)
|
rs370947313
|
0.00004
|
NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr)
|
rs376702277
|
0.00004
|
NM_004304.5(ALK):c.4811A>G (p.Tyr1604Cys)
|
rs372440265
|
0.00004
|
NM_004304.5(ALK):c.503T>C (p.Phe168Ser)
|
rs755498584
|
0.00004
|
NM_004304.5(ALK):c.506A>G (p.Asn169Ser)
|
rs752129360
|
0.00004
|
NM_004304.5(ALK):c.640C>T (p.Arg214Cys)
|
rs370297427
|
0.00004
|
NM_004304.5(ALK):c.930G>T (p.Glu310Asp)
|
rs367712624
|
0.00004
|
NM_004304.5(ALK):c.931C>T (p.Arg311Cys)
|
rs149837139
|
0.00004
|
NM_004304.5(ALK):c.941A>G (p.Glu314Gly)
|
rs778845512
|
0.00004
|
NM_004484.4(GPC3):c.293T>C (p.Met98Thr)
|
rs1007159317
|
0.00004
|
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys)
|
rs201844078
|
0.00004
|
NM_005612.5(REST):c.1344A>G (p.Ile448Met)
|
rs778247936
|
0.00004
|
NM_016169.4(SUFU):c.*2267G>T
|
rs886046660
|
0.00004
|
NM_016169.4(SUFU):c.1147C>G (p.Leu383Val)
|
rs991500079
|
0.00004
|
NM_016169.4(SUFU):c.866G>A (p.Arg289Gln)
|
rs149016373
|
0.00004
|
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp)
|
rs768170991
|
0.00004
|
NM_024426.6(WT1):c.*239G>A
|
rs886048226
|
0.00004
|
NM_024426.6(WT1):c.1150G>A (p.Val384Ile)
|
rs977244044
|
0.00004
|
NM_024426.6(WT1):c.70C>T (p.Arg24Cys)
|
rs878855086
|
0.00004
|
NM_024426.6(WT1):c.813G>C (p.Pro271=)
|
rs1341857958
|
0.00004
|
NM_024426.6(WT1):c.925A>G (p.Met309Val)
|
rs754336808
|
0.00004
|
NM_177438.3(DICER1):c.1410G>C (p.Glu470Asp)
|
rs774271782
|
0.00004
|
NM_177438.3(DICER1):c.1801A>G (p.Ile601Val)
|
rs564224919
|
0.00004
|
NM_177438.3(DICER1):c.3422C>T (p.Ser1141Phe)
|
rs780815020
|
0.00004
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys)
|
rs754143860
|
0.00003
|
NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser)
|
rs778460384
|
0.00003
|
NM_001242835.2(NDRG4):c.202G>A (p.Val68Met)
|
rs753975630
|
0.00003
|
NM_001365951.3(KIF1B):c.*1997T>C
|
rs886044997
|
0.00003
|
NM_001365951.3(KIF1B):c.*2379T>C
|
rs886044999
|
0.00003
|
NM_001365951.3(KIF1B):c.*4963G>A
|
rs772760264
|
0.00003
|
NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)
|
rs374848403
|
0.00003
|
NM_001365951.3(KIF1B):c.2516A>G (p.Tyr839Cys)
|
rs778288202
|
0.00003
|
NM_001365951.3(KIF1B):c.3129+11G>T
|
rs201224213
|
0.00003
|
NM_001387283.1(SMARCA4):c.4190T>G (p.Ile1397Ser)
|
rs534766933
|
0.00003
|
NM_003072.5(SMARCA4):c.1006C>A (p.Pro336Thr)
|
rs111491424
|
0.00003
|
NM_003072.5(SMARCA4):c.1090G>A (p.Val364Met)
|
rs1020163987
|
0.00003
|
NM_003072.5(SMARCA4):c.1286C>T (p.Ala429Val)
|
rs569715577
|
0.00003
|
NM_003072.5(SMARCA4):c.1420-3C>T
|
rs777295398
|
0.00003
|
NM_003072.5(SMARCA4):c.1748A>G (p.Lys583Arg)
|
rs1043517699
|
0.00003
|
NM_003072.5(SMARCA4):c.2020C>A (p.Pro674Thr)
|
rs780569107
|
0.00003
|
NM_003072.5(SMARCA4):c.3436G>A (p.Gly1146Ser)
|
rs200007170
|
0.00003
|
NM_003072.5(SMARCA4):c.3814G>A (p.Ala1272Thr)
|
rs776672640
|
0.00003
|
NM_003072.5(SMARCA4):c.3850G>A (p.Asp1284Asn)
|
rs765989895
|
0.00003
|
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln)
|
rs143950084
|
0.00003
|
NM_003072.5(SMARCA4):c.3952-13C>A
|
rs374611879
|
0.00003
|
NM_003072.5(SMARCA4):c.4211T>C (p.Val1404Ala)
|
rs1240862092
|
0.00003
|
NM_003072.5(SMARCA4):c.4249A>G (p.Ser1417Gly)
|
rs373390083
|
0.00003
|
NM_003072.5(SMARCA4):c.4255G>A (p.Ala1419Thr)
|
rs374722116
|
0.00003
|
NM_003072.5(SMARCA4):c.4271C>T (p.Pro1424Leu)
|
rs760654888
|
0.00003
|
NM_003072.5(SMARCA4):c.4294G>A (p.Asp1432Asn)
|
rs755295556
|
0.00003
|
NM_003072.5(SMARCA4):c.4673C>T (p.Thr1558Ile)
|
rs765873407
|
0.00003
|
NM_003072.5(SMARCA4):c.4682G>A (p.Arg1561Gln)
|
rs201258822
|
0.00003
|
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro)
|
rs755493468
|
0.00003
|
NM_003072.5(SMARCA4):c.671C>T (p.Ser224Leu)
|
rs1368858108
|
0.00003
|
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu)
|
rs1064795842
|
0.00003
|
NM_003073.5(SMARCB1):c.-148T>C
|
rs886057283
|
0.00003
|
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met)
|
rs376671881
|
0.00003
|
NM_003640.5(ELP1):c.1135C>T (p.Arg379Trp)
|
rs766255360
|
0.00003
|
NM_003640.5(ELP1):c.1614G>C (p.Met538Ile)
|
rs749608070
|
0.00003
|
NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys)
|
rs756919296
|
0.00003
|
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys)
|
rs139479557
|
0.00003
|
NM_003640.5(ELP1):c.2386A>G (p.Met796Val)
|
rs748482757
|
0.00003
|
NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)
|
rs776891269
|
0.00003
|
NM_003640.5(ELP1):c.3014C>T (p.Ala1005Val)
|
rs55658431
|
0.00003
|
NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys)
|
rs200941360
|
0.00003
|
NM_003640.5(ELP1):c.360C>G (p.Asp120Glu)
|
rs775972369
|
0.00003
|
NM_003640.5(ELP1):c.3767A>G (p.Gln1256Arg)
|
rs766517046
|
0.00003
|
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val)
|
rs769146127
|
0.00003
|
NM_003640.5(ELP1):c.859G>A (p.Val287Ile)
|
rs755938001
|
0.00003
|
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)
|
rs747885797
|
0.00003
|
NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)
|
rs748614674
|
0.00003
|
NM_003924.4(PHOX2B):c.746C>T (p.Ala249Val)
|
rs752867315
|
0.00003
|
NM_004304.5(ALK):c.-624C>G
|
rs886055938
|
0.00003
|
NM_004304.5(ALK):c.-830C>T
|
rs1227238002
|
0.00003
|
NM_004304.5(ALK):c.1022G>A (p.Ser341Asn)
|
rs1279941719
|
0.00003
|
NM_004304.5(ALK):c.1154G>A (p.Gly385Asp)
|
rs774127733
|
0.00003
|
NM_004304.5(ALK):c.1190A>T (p.Asp397Val)
|
rs368122868
|
0.00003
|
NM_004304.5(ALK):c.119C>T (p.Pro40Leu)
|
rs200212200
|
0.00003
|
NM_004304.5(ALK):c.1529G>A (p.Arg510Gln)
|
rs776351932
|
0.00003
|
NM_004304.5(ALK):c.1645G>A (p.Glu549Lys)
|
rs1388997240
|
0.00003
|
NM_004304.5(ALK):c.1652G>A (p.Arg551Gln)
|
rs374136388
|
0.00003
|
NM_004304.5(ALK):c.1983C>A (p.Asn661Lys)
|
rs758860363
|
0.00003
|
NM_004304.5(ALK):c.2002G>A (p.Glu668Lys)
|
rs1208550472
|
0.00003
|
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn)
|
rs768366852
|
0.00003
|
NM_004304.5(ALK):c.2452G>A (p.Gly818Arg)
|
rs777803249
|
0.00003
|
NM_004304.5(ALK):c.2497G>T (p.Gly833Ter)
|
rs74360487
|
0.00003
|
NM_004304.5(ALK):c.2548G>A (p.Gly850Arg)
|
rs200563480
|
0.00003
|
NM_004304.5(ALK):c.2759G>A (p.Gly920Asp)
|
rs746643773
|
0.00003
|
NM_004304.5(ALK):c.2821A>C (p.Asn941His)
|
rs1379843994
|
0.00003
|
NM_004304.5(ALK):c.2845G>A (p.Glu949Lys)
|
rs774004991
|
0.00003
|
NM_004304.5(ALK):c.298A>G (p.Arg100Gly)
|
rs764559656
|
0.00003
|
NM_004304.5(ALK):c.3055G>A (p.Val1019Ile)
|
rs76742576
|
0.00003
|
NM_004304.5(ALK):c.3067G>A (p.Val1023Met)
|
rs756986057
|
0.00003
|
NM_004304.5(ALK):c.3300C>T (p.Gly1100=)
|
rs752819935
|
0.00003
|
NM_004304.5(ALK):c.386G>T (p.Gly129Val)
|
rs760041708
|
0.00003
|
NM_004304.5(ALK):c.3905T>G (p.Met1302Arg)
|
rs749608713
|
0.00003
|
NM_004304.5(ALK):c.407G>A (p.Arg136Gln)
|
rs745712273
|
0.00003
|
NM_004304.5(ALK):c.4340C>T (p.Thr1447Ile)
|
rs554599505
|
0.00003
|
NM_004304.5(ALK):c.4405C>T (p.Pro1469Ser)
|
rs780571098
|
0.00003
|
NM_004304.5(ALK):c.4425C>T (p.His1475=)
|
rs139039449
|
0.00003
|
NM_004304.5(ALK):c.4459T>C (p.Ser1487Pro)
|
rs762072069
|
0.00003
|
NM_004304.5(ALK):c.4481G>A (p.Gly1494Glu)
|
rs368484630
|
0.00003
|
NM_004304.5(ALK):c.4522G>A (p.Gly1508Ser)
|
rs764315254
|
0.00003
|
NM_004304.5(ALK):c.4537G>A (p.Glu1513Lys)
|
rs374733353
|
0.00003
|
NM_004304.5(ALK):c.595G>T (p.Gly199Cys)
|
rs747517546
|
0.00003
|
NM_004304.5(ALK):c.615C>G (p.Ser205=)
|
rs567498111
|
0.00003
|
NM_004304.5(ALK):c.833C>T (p.Pro278Leu)
|
rs199703254
|
0.00003
|
NM_004304.5(ALK):c.872G>A (p.Arg291His)
|
rs572340007
|
0.00003
|
NM_004304.5(ALK):c.919C>T (p.Pro307Ser)
|
rs199790669
|
0.00003
|
NM_004484.4(GPC3):c.257G>A (p.Arg86Gln)
|
rs1158430569
|
0.00003
|
NM_004484.4(GPC3):c.607C>T (p.Arg203Cys)
|
rs756480292
|
0.00003
|
NM_004484.4(GPC3):c.856A>G (p.Met286Val)
|
rs763327506
|
0.00003
|
NM_005762.3(TRIM28):c.380A>G (p.Lys127Arg)
|
rs147833197
|
0.00003
|
NM_016169.4(SUFU):c.*2643C>G
|
rs886046663
|
0.00003
|
NM_016169.4(SUFU):c.*376G>A
|
rs866120174
|
0.00003
|
NM_016169.4(SUFU):c.*915G>C
|
rs886046656
|
0.00003
|
NM_016169.4(SUFU):c.1006G>A (p.Ala336Thr)
|
rs746448939
|
0.00003
|
NM_016169.4(SUFU):c.109A>G (p.Ile37Val)
|
rs745793517
|
0.00003
|
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser)
|
rs142672533
|
0.00003
|
NM_016169.4(SUFU):c.896G>A (p.Arg299Gln)
|
rs374946819
|
0.00003
|
NM_024426.6(WT1):c.1123C>T (p.Arg375Cys)
|
rs1172760612
|
0.00003
|
NM_024426.6(WT1):c.1124G>A (p.Arg375His)
|
rs554416372
|
0.00003
|
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu)
|
rs1014605516
|
0.00003
|
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)
|
rs147241955
|
0.00003
|
NM_024426.6(WT1):c.151del (p.Ala51fs)
|
rs776155094
|
0.00003
|
NM_024426.6(WT1):c.397C>A (p.Pro133Thr)
|
rs1202603651
|
0.00003
|
NM_024426.6(WT1):c.419C>T (p.Pro140Leu)
|
rs1164390603
|
0.00003
|
NM_024426.6(WT1):c.475G>A (p.Glu159Lys)
|
rs768165877
|
0.00003
|
NM_024426.6(WT1):c.661+6T>C
|
rs557166021
|
0.00003
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)
|
rs750671399
|
0.00002
|
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)
|
rs587781760
|
0.00002
|
NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)
|
rs876660249
|
0.00002
|
NM_000059.4(BRCA2):c.8331+3A>C
|
rs876659382
|
0.00002
|
NM_000143.4(FH):c.664T>A (p.Ser222Thr)
|
rs1448268784
|
0.00002
|
NM_001365951.3(KIF1B):c.*1555T>C
|
rs1638935339
|
0.00002
|
NM_001365951.3(KIF1B):c.*2786G>A
|
rs886045003
|
0.00002
|
NM_001365951.3(KIF1B):c.*3034C>T
|
rs886045006
|
0.00002
|
NM_001365951.3(KIF1B):c.*3386C>T
|
rs765149352
|
0.00002
|
NM_001365951.3(KIF1B):c.*3432A>G
|
rs187082038
|
0.00002
|
NM_001365951.3(KIF1B):c.*3697A>C
|
rs762218807
|
0.00002
|
NM_001365951.3(KIF1B):c.*4621C>T
|
rs535976639
|
0.00002
|
NM_001365951.3(KIF1B):c.*4919G>A
|
rs886045016
|
0.00002
|
NM_001365951.3(KIF1B):c.*4940T>A
|
rs1400589779
|
0.00002
|
NM_001365951.3(KIF1B):c.364-15A>G
|
rs771929965
|
0.00002
|
NM_001365951.3(KIF1B):c.3953G>A (p.Arg1318His)
|
rs368637007
|
0.00002
|
NM_001365951.3(KIF1B):c.4037C>G (p.Ser1346Cys)
|
rs1377919163
|
0.00002
|
NM_001365951.3(KIF1B):c.4067G>A (p.Arg1356His)
|
rs140769726
|
0.00002
|
NM_001365951.3(KIF1B):c.4683C>T (p.Ser1561=)
|
rs751084365
|
0.00002
|
NM_001387283.1(SMARCA4):c.4256G>A (p.Arg1419His)
|
rs775807962
|
0.00002
|
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val)
|
rs887226313
|
0.00002
|
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val)
|
rs878854196
|
0.00002
|
NM_003072.5(SMARCA4):c.1119-3C>T
|
rs747149353
|
0.00002
|
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln)
|
rs1050237
|
0.00002
|
NM_003072.5(SMARCA4):c.1742A>G (p.Lys581Arg)
|
rs765139835
|
0.00002
|
NM_003072.5(SMARCA4):c.1755A>T (p.Lys585Asn)
|
rs772752194
|
0.00002
|
NM_003072.5(SMARCA4):c.2044C>G (p.Leu682Val)
|
rs773252889
|
0.00002
|
NM_003072.5(SMARCA4):c.2050G>A (p.Val684Met)
|
rs766237791
|
0.00002
|
NM_003072.5(SMARCA4):c.3215+3G>A
|
rs751050884
|
0.00002
|
NM_003072.5(SMARCA4):c.3799G>A (p.Gly1267Ser)
|
rs764152134
|
0.00002
|
NM_003072.5(SMARCA4):c.4310G>A (p.Ser1437Asn)
|
rs1402031100
|
0.00002
|
NM_003072.5(SMARCA4):c.4370A>G (p.Asn1457Ser)
|
rs1434396338
|
0.00002
|
NM_003072.5(SMARCA4):c.4405G>A (p.Val1469Met)
|
rs370484739
|
0.00002
|
NM_003072.5(SMARCA4):c.4424+6C>T
|
rs778283753
|
0.00002
|
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met)
|
rs372893370
|
0.00002
|
NM_003072.5(SMARCA4):c.4724G>A (p.Ser1575Asn)
|
rs878854229
|
0.00002
|
NM_003072.5(SMARCA4):c.4754G>T (p.Gly1585Val)
|
rs148115492
|
0.00002
|
NM_003072.5(SMARCA4):c.4763C>T (p.Ser1588Phe)
|
rs373858447
|
0.00002
|
NM_003072.5(SMARCA4):c.508A>T (p.Thr170Ser)
|
rs773273784
|
0.00002
|
NM_003072.5(SMARCA4):c.626C>T (p.Pro209Leu)
|
rs778071122
|
0.00002
|
NM_003072.5(SMARCA4):c.661C>A (p.Pro221Thr)
|
rs1417452362
|
0.00002
|
NM_003072.5(SMARCA4):c.679G>T (p.Ala227Ser)
|
rs769096295
|
0.00002
|
NM_003072.5(SMARCA4):c.790G>C (p.Gly264Arg)
|
rs746036083
|
0.00002
|
NM_003072.5(SMARCA4):c.802G>A (p.Val268Met)
|
rs768522438
|
0.00002
|
NM_003072.5(SMARCA4):c.859+5G>A
|
rs367781236
|
0.00002
|
NM_003072.5(SMARCA4):c.887C>T (p.Thr296Met)
|
rs781066262
|
0.00002
|
NM_003072.5(SMARCA4):c.929G>A (p.Arg310His)
|
rs766422429
|
0.00002
|
NM_003072.5(SMARCA4):c.940G>A (p.Ala314Thr)
|
rs764188556
|
0.00002
|
NM_003072.5(SMARCA4):c.986A>G (p.Gln329Arg)
|
rs775843321
|
0.00002
|
NM_003073.5(SMARCB1):c.-149C>T
|
rs886057282
|
0.00002
|
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met)
|
rs1387467529
|
0.00002
|
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)
|
rs145695677
|
0.00002
|
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)
|
rs762962010
|
0.00002
|
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met)
|
rs751957685
|
0.00002
|
NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala)
|
rs770333327
|
0.00002
|
NM_003640.5(ELP1):c.1141G>A (p.Val381Met)
|
rs769108524
|
0.00002
|
NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe)
|
rs745948468
|
0.00002
|
NM_003640.5(ELP1):c.1672A>G (p.Ile558Val)
|
rs772705478
|
0.00002
|
NM_003640.5(ELP1):c.1804C>T (p.Arg602Trp)
|
rs200397694
|
0.00002
|
NM_003640.5(ELP1):c.2258A>G (p.Asn753Ser)
|
rs201601641
|
0.00002
|
NM_003640.5(ELP1):c.2390A>G (p.Tyr797Cys)
|
rs1181862976
|
0.00002
|
NM_003640.5(ELP1):c.23G>A (p.Arg8Gln)
|
rs370041985
|
0.00002
|
NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys)
|
rs191464698
|
0.00002
|
NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp)
|
rs763312635
|
0.00002
|
NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser)
|
rs750563722
|
0.00002
|
NM_003640.5(ELP1):c.3170T>C (p.Val1057Ala)
|
rs147069577
|
0.00002
|
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg)
|
rs367582146
|
0.00002
|
NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp)
|
rs201168521
|
0.00002
|
NM_003640.5(ELP1):c.3827T>C (p.Leu1276Pro)
|
rs558588647
|
0.00002
|
NM_003640.5(ELP1):c.382A>G (p.Thr128Ala)
|
rs774585995
|
0.00002
|
NM_003640.5(ELP1):c.866T>C (p.Val289Ala)
|
rs890474380
|
0.00002
|
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val)
|
rs1030456781
|
0.00002
|
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys)
|
rs781204167
|
0.00002
|
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu)
|
rs539161089
|
0.00002
|
NM_003924.4(PHOX2B):c.599C>T (p.Pro200Leu)
|
rs964285984
|
0.00002
|
NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg)
|
rs759792321
|
0.00002
|
NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val)
|
rs1335294030
|
0.00002
|
NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser)
|
rs1260084723
|
0.00002
|
NM_003924.4(PHOX2B):c.929A>G (p.Lys310Arg)
|
rs767873201
|
0.00002
|
NM_004304.5(ALK):c.*189T>C
|
rs886055926
|
0.00002
|
NM_004304.5(ALK):c.1049C>T (p.Ser350Leu)
|
rs759426382
|
0.00002
|
NM_004304.5(ALK):c.1189G>A (p.Asp397Asn)
|
rs747810439
|
0.00002
|
NM_004304.5(ALK):c.1225A>G (p.Ser409Gly)
|
rs374842018
|
0.00002
|
NM_004304.5(ALK):c.1279G>A (p.Glu427Lys)
|
rs371652715
|
0.00002
|
NM_004304.5(ALK):c.1376A>G (p.Gln459Arg)
|
rs773380015
|
0.00002
|
NM_004304.5(ALK):c.1447G>C (p.Glu483Gln)
|
rs1453170969
|
0.00002
|
NM_004304.5(ALK):c.1514C>T (p.Thr505Ile)
|
rs751321667
|
0.00002
|
NM_004304.5(ALK):c.1580C>G (p.Pro527Arg)
|
rs781414872
|
0.00002
|
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)
|
rs758494304
|
0.00002
|
NM_004304.5(ALK):c.1663C>T (p.Leu555Phe)
|
rs769229444
|
0.00002
|
NM_004304.5(ALK):c.1837G>A (p.Ala613Thr)
|
rs61744521
|
0.00002
|
NM_004304.5(ALK):c.1976A>G (p.Asn659Ser)
|
rs980989671
|
0.00002
|
NM_004304.5(ALK):c.2016A>T (p.Arg672Ser)
|
rs1060500225
|
0.00002
|
NM_004304.5(ALK):c.2080C>T (p.His694Tyr)
|
rs772087086
|
0.00002
|
NM_004304.5(ALK):c.2151G>C (p.Glu717Asp)
|
rs772363561
|
0.00002
|
NM_004304.5(ALK):c.2239G>A (p.Gly747Arg)
|
rs762395127
|
0.00002
|
NM_004304.5(ALK):c.2263C>A (p.His755Asn)
|
rs925915337
|
0.00002
|
NM_004304.5(ALK):c.2266G>A (p.Gly756Ser)
|
rs747611056
|
0.00002
|
NM_004304.5(ALK):c.2384T>C (p.Ile795Thr)
|
rs763503560
|
0.00002
|
NM_004304.5(ALK):c.2487+4_2487+5insA
|
rs755502856
|
0.00002
|
NM_004304.5(ALK):c.2569C>T (p.His857Tyr)
|
rs754393402
|
0.00002
|
NM_004304.5(ALK):c.2654A>G (p.Asp885Gly)
|
rs745406091
|
0.00002
|
NM_004304.5(ALK):c.2712T>A (p.His904Gln)
|
rs766742720
|
0.00002
|
NM_004304.5(ALK):c.2764G>A (p.Gly922Arg)
|
rs745317944
|
0.00002
|
NM_004304.5(ALK):c.2770G>C (p.Gly924Arg)
|
rs78086548
|
0.00002
|
NM_004304.5(ALK):c.2816-3C>T
|
rs533733008
|
0.00002
|
NM_004304.5(ALK):c.286G>A (p.Ala96Thr)
|
rs1057065255
|
0.00002
|
NM_004304.5(ALK):c.2875A>G (p.Ile959Val)
|
rs748167212
|
0.00002
|
NM_004304.5(ALK):c.2999A>G (p.Glu1000Gly)
|
rs776287213
|
0.00002
|
NM_004304.5(ALK):c.3076A>G (p.Thr1026Ala)
|
rs781515382
|
0.00002
|
NM_004304.5(ALK):c.3170T>C (p.Ile1057Thr)
|
rs747594544
|
0.00002
|
NM_004304.5(ALK):c.3250C>T (p.Arg1084Cys)
|
rs768123237
|
0.00002
|
NM_004304.5(ALK):c.3330G>C (p.Glu1110Asp)
|
rs140606509
|
0.00002
|
NM_004304.5(ALK):c.3513C>G (p.Ile1171Met)
|
rs760322018
|
0.00002
|
NM_004304.5(ALK):c.3574C>T (p.Arg1192Trp)
|
rs534852056
|
0.00002
|
NM_004304.5(ALK):c.3595A>T (p.Met1199Leu)
|
rs1400239417
|
0.00002
|
NM_004304.5(ALK):c.3625C>T (p.Arg1209Ter)
|
rs769449619
|
0.00002
|
NM_004304.5(ALK):c.3641G>A (p.Arg1214His)
|
rs750194005
|
0.00002
|
NM_004304.5(ALK):c.3656C>T (p.Ser1219Phe)
|
rs752728718
|
0.00002
|
NM_004304.5(ALK):c.3884G>A (p.Trp1295Ter)
|
rs1417330585
|
0.00002
|
NM_004304.5(ALK):c.3939-9C>T
|
rs749848775
|
0.00002
|
NM_004304.5(ALK):c.4076A>G (p.Tyr1359Cys)
|
rs748787875
|
0.00002
|
NM_004304.5(ALK):c.4079G>A (p.Arg1360Gln)
|
rs1215186876
|
0.00002
|
NM_004304.5(ALK):c.4210C>G (p.Leu1404Val)
|
rs757615099
|
0.00002
|
NM_004304.5(ALK):c.4211T>C (p.Leu1404Pro)
|
rs377129811
|
0.00002
|
NM_004304.5(ALK):c.428T>G (p.Leu143Arg)
|
rs777656583
|
0.00002
|
NM_004304.5(ALK):c.4406C>T (p.Pro1469Leu)
|
rs758625575
|
0.00002
|
NM_004304.5(ALK):c.4454C>T (p.Pro1485Leu)
|
rs556061961
|
0.00002
|
NM_004304.5(ALK):c.4594A>G (p.Asn1532Asp)
|
rs563126725
|
0.00002
|
NM_004304.5(ALK):c.4619C>G (p.Thr1540Ser)
|
rs1215255332
|
0.00002
|
NM_004304.5(ALK):c.4723C>T (p.Arg1575Cys)
|
rs148351049
|
0.00002
|
NM_004304.5(ALK):c.4748A>G (p.Asn1583Ser)
|
rs751677905
|
0.00002
|
NM_004304.5(ALK):c.4813G>A (p.Glu1605Lys)
|
rs754214919
|
0.00002
|
NM_004304.5(ALK):c.4839T>G (p.Asn1613Lys)
|
rs1487769564
|
0.00002
|
NM_004304.5(ALK):c.4859C>T (p.Pro1620Leu)
|
rs1383494876
|
0.00002
|
NM_004304.5(ALK):c.628G>A (p.Ala210Thr)
|
rs755697363
|
0.00002
|
NM_004304.5(ALK):c.697A>G (p.Met233Val)
|
rs771254732
|
0.00002
|
NM_004304.5(ALK):c.723T>A (p.Phe241Leu)
|
rs146281095
|
0.00002
|
NM_004304.5(ALK):c.80A>G (p.Gln27Arg)
|
rs752501243
|
0.00002
|
NM_004304.5(ALK):c.819G>T (p.Glu273Asp)
|
rs758537157
|
0.00002
|
NM_004304.5(ALK):c.871C>T (p.Arg291Cys)
|
rs748854412
|
0.00002
|
NM_004304.5(ALK):c.920_922dup (p.Pro307_Gly308insAla)
|
rs746818719
|
0.00002
|
NM_004304.5(ALK):c.983A>G (p.Asp328Gly)
|
rs556138942
|
0.00002
|
NM_004484.4(GPC3):c.115C>T (p.Arg39Cys)
|
rs757475450
|
0.00002
|
NM_004484.4(GPC3):c.1495G>A (p.Gly499Ser)
|
rs995058278
|
0.00002
|
NM_004484.4(GPC3):c.1546G>A (p.Val516Met)
|
rs1803692
|
0.00002
|
NM_004484.4(GPC3):c.1639A>G (p.Asn547Asp)
|
rs773437908
|
0.00002
|
NM_004484.4(GPC3):c.22G>A (p.Ala8Thr)
|
rs772076246
|
0.00002
|
NM_004484.4(GPC3):c.273G>T (p.Gln91His)
|
rs1017256114
|
0.00002
|
NM_004484.4(GPC3):c.318G>C (p.Gln106His)
|
rs750139856
|
0.00002
|
NM_004484.4(GPC3):c.733C>A (p.His245Asn)
|
rs199778216
|
0.00002
|
NM_004484.4(GPC3):c.946A>G (p.Met316Val)
|
rs764148728
|
0.00002
|
NM_004484.4(GPC3):c.958C>G (p.Leu320Val)
|
rs372222280
|
0.00002
|
NM_005612.5(REST):c.1902G>A (p.Met634Ile)
|
rs777213931
|
0.00002
|
NM_016169.4(SUFU):c.*1908C>G
|
rs764234968
|
0.00002
|
NM_016169.4(SUFU):c.*3025T>C
|
rs896765914
|
0.00002
|
NM_016169.4(SUFU):c.*844G>A
|
rs1032441274
|
0.00002
|
NM_016169.4(SUFU):c.1010A>G (p.His337Arg)
|
rs377274250
|
0.00002
|
NM_016169.4(SUFU):c.1190A>G (p.Tyr397Cys)
|
rs766508656
|
0.00002
|
NM_016169.4(SUFU):c.1280A>G (p.His427Arg)
|
rs771305734
|
0.00002
|
NM_016169.4(SUFU):c.1325A>G (p.Lys442Arg)
|
rs772598739
|
0.00002
|
NM_016169.4(SUFU):c.169A>G (p.Ile57Val)
|
rs377614167
|
0.00002
|
NM_016169.4(SUFU):c.225G>T (p.Arg75Ser)
|
rs141532626
|
0.00002
|
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)
|
rs746322193
|
0.00002
|
NM_016169.4(SUFU):c.671G>A (p.Arg224Gln)
|
rs199673680
|
0.00002
|
NM_016169.4(SUFU):c.67C>T (p.Pro23Ser)
|
rs766666529
|
0.00002
|
NM_016169.4(SUFU):c.682A>G (p.Ile228Val)
|
rs555976050
|
0.00002
|
NM_016169.4(SUFU):c.703A>G (p.Ile235Val)
|
rs144666812
|
0.00002
|
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp)
|
rs771255988
|
0.00002
|
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln)
|
rs770246373
|
0.00002
|
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys)
|
rs376797758
|
0.00002
|
NM_016169.4(SUFU):c.949G>A (p.Glu317Lys)
|
rs988284678
|
0.00002
|
NM_024426.6(WT1):c.*110C>T
|
rs757474299
|
0.00002
|
NM_024426.6(WT1):c.*785C>A
|
rs886048214
|
0.00002
|
NM_024426.6(WT1):c.1092C>A (p.His364Gln)
|
rs587778756
|
0.00002
|
NM_024426.6(WT1):c.1121G>A (p.Arg374Gln)
|
rs772590420
|
0.00002
|
NM_024426.6(WT1):c.1304G>A (p.Arg435Gln)
|
rs144788858
|
0.00002
|
NM_024426.6(WT1):c.146G>T (p.Gly49Val)
|
rs1475923286
|
0.00002
|
NM_024426.6(WT1):c.218A>T (p.Gln73Leu)
|
rs1036899554
|
0.00002
|
NM_024426.6(WT1):c.248C>T (p.Ala83Val)
|
rs1278102757
|
0.00002
|
NM_024426.6(WT1):c.406C>A (p.Pro136Thr)
|
rs748045691
|
0.00002
|
NM_024426.6(WT1):c.586G>A (p.Gly196Ser)
|
rs756501972
|
0.00002
|
NM_024426.6(WT1):c.587G>A (p.Gly196Asp)
|
rs753112302
|
0.00002
|
NM_024426.6(WT1):c.628T>G (p.Cys210Gly)
|
rs776426005
|
0.00002
|
NM_024426.6(WT1):c.736A>G (p.Asn246Asp)
|
rs1285224919
|
0.00002
|
NM_024426.6(WT1):c.779C>T (p.Ser260Leu)
|
rs1444869026
|
0.00002
|
NM_024426.6(WT1):c.806C>G (p.Pro269Arg)
|
rs756078681
|
0.00002
|
NM_024426.6(WT1):c.830C>T (p.Thr277Ile)
|
rs138073760
|
0.00002
|
NM_024426.6(WT1):c.887+4G>A
|
rs778673400
|
0.00002
|
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile)
|
rs775193384
|
0.00002
|
NM_177438.3(DICER1):c.1377-18T>A
|
rs1032236740
|
0.00002
|
NM_177438.3(DICER1):c.2378A>G (p.Tyr793Cys)
|
rs527568726
|
0.00002
|
NM_203447.4(DOCK8):c.1416C>G (p.Phe472Leu)
|
rs1443199004
|
0.00002
|
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)
|
rs80358488
|
0.00001
|
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)
|
rs431825296
|
0.00001
|
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)
|
rs397507295
|
0.00001
|
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe)
|
rs431825308
|
0.00001
|
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)
|
rs80358679
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)
|
rs377639990
|
0.00001
|
NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)
|
rs41293467
|
0.00001
|
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)
|
rs587782060
|
0.00001
|
NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)
|
rs80358767
|
0.00001
|
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)
|
rs397507360
|
0.00001
|
NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)
|
rs28897739
|
0.00001
|
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)
|
rs431825344
|
0.00001
|
NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)
|
rs786203098
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)
|
rs80358934
|
0.00001
|
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly)
|
rs80358966
|
0.00001
|
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)
|
rs431825354
|
0.00001
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)
|
rs876658365
|
0.00001
|
NM_000059.4(BRCA2):c.9538C>T (p.Leu3180Phe)
|
rs200598289
|
0.00001
|
NM_000094.4(COL7A1):c.1774C>T (p.Arg592Cys)
|
rs147470888
|
0.00001
|
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)
|
rs777937822
|
0.00001
|
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)
|
rs754507551
|
0.00001
|
NM_001018115.3(FANCD2):c.3710T>C (p.Val1237Ala)
|
rs767806932
|
0.00001
|
NM_001365951.3(KIF1B):c.*1104C>T
|
rs886044995
|
0.00001
|
NM_001365951.3(KIF1B):c.*2412A>G
|
rs886045000
|
0.00001
|
NM_001365951.3(KIF1B):c.*2743G>A
|
rs886045002
|
0.00001
|
NM_001365951.3(KIF1B):c.*2840G>A
|
rs886045004
|
0.00001
|
NM_001365951.3(KIF1B):c.*3146T>C
|
rs886045007
|
0.00001
|
NM_001365951.3(KIF1B):c.*3355C>A
|
rs1251172414
|
0.00001
|
NM_001365951.3(KIF1B):c.*3921C>T
|
rs1638995010
|
0.00001
|
NM_001365951.3(KIF1B):c.*4697A>G
|
rs886045015
|
0.00001
|
NM_001365951.3(KIF1B):c.*744C>A
|
rs886044994
|
0.00001
|
NM_001365951.3(KIF1B):c.-68G>A
|
rs529564378
|
0.00001
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
NM_001365951.3(KIF1B):c.159C>T (p.Asp53=)
|
rs752674254
|
0.00001
|
NM_001365951.3(KIF1B):c.264A>G (p.Gly88=)
|
rs769781641
|
0.00001
|
NM_001365951.3(KIF1B):c.2830G>A (p.Gly944Ser)
|
rs755314640
|
0.00001
|
NM_001365951.3(KIF1B):c.3513+7G>T
|
rs1174031782
|
0.00001
|
NM_001365951.3(KIF1B):c.364-10A>G
|
rs886044966
|
0.00001
|
NM_001365951.3(KIF1B):c.3725G>T (p.Ser1242Ile)
|
rs745380720
|
0.00001
|
NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=)
|
rs746980680
|
0.00001
|
NM_001365951.3(KIF1B):c.4179T>C (p.His1393=)
|
rs772429569
|
0.00001
|
NM_001365951.3(KIF1B):c.4642C>G (p.Gln1548Glu)
|
rs1331941619
|
0.00001
|
NM_001365951.3(KIF1B):c.4669G>A (p.Ala1557Thr)
|
rs200255510
|
0.00001
|
NM_001365951.3(KIF1B):c.5406A>G (p.Ile1802Met)
|
rs150737970
|
0.00001
|
NM_001365951.3(KIF1B):c.721-15A>G
|
rs755866386
|
0.00001
|
NM_001365951.3(KIF1B):c.999C>T (p.Pro333=)
|
rs141637645
|
0.00001
|
NM_001375883.1(GPR161):c.1196A>G (p.Gln399Arg)
|
rs1412562086
|
0.00001
|
NM_001382508.1(DROSHA):c.3218A>C (p.Asp1073Ala)
|
rs1394064377
|
0.00001
|
NM_001387283.1(SMARCA4):c.4193A>G (p.His1398Arg)
|
rs878854221
|
0.00001
|
NM_001387283.1(SMARCA4):c.4202C>T (p.Ala1401Val)
|
rs771008873
|
0.00001
|
NM_001387283.1(SMARCA4):c.4216C>T (p.Arg1406Cys)
|
rs587778686
|
0.00001
|
NM_001387283.1(SMARCA4):c.4217G>A (p.Arg1406His)
|
rs779801126
|
0.00001
|
NM_001387283.1(SMARCA4):c.4233G>T (p.Gln1411His)
|
rs780721689
|
0.00001
|
NM_001387283.1(SMARCA4):c.4234C>T (p.Arg1412Cys)
|
rs747852149
|
0.00001
|
NM_001387283.1(SMARCA4):c.4235G>A (p.Arg1412His)
|
rs769555654
|
0.00001
|
NM_001387283.1(SMARCA4):c.4240C>T (p.Leu1414Phe)
|
rs746165832
|
0.00001
|
NM_001387283.1(SMARCA4):c.4266G>A (p.Lys1422=)
|
rs896036433
|
0.00001
|
NM_003072.5(SMARCA4):c.1000G>A (p.Gly334Arg)
|
rs1364450672
|
0.00001
|
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu)
|
rs765058736
|
0.00001
|
NM_003072.5(SMARCA4):c.1013A>G (p.Gln338Arg)
|
rs757896781
|
0.00001
|
NM_003072.5(SMARCA4):c.101C>G (p.Pro34Arg)
|
rs2085811631
|
0.00001
|
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg)
|
rs777628688
|
0.00001
|
NM_003072.5(SMARCA4):c.1051C>T (p.Arg351Cys)
|
rs2086199522
|
0.00001
|
NM_003072.5(SMARCA4):c.1052G>A (p.Arg351His)
|
rs1018881303
|
0.00001
|
NM_003072.5(SMARCA4):c.1073C>T (p.Pro358Leu)
|
rs1060502094
|
0.00001
|
NM_003072.5(SMARCA4):c.1075C>T (p.Arg359Trp)
|
rs1213473194
|
0.00001
|
NM_003072.5(SMARCA4):c.107C>T (p.Pro36Leu)
|
rs766176476
|
0.00001
|
NM_003072.5(SMARCA4):c.1084G>A (p.Asp362Asn)
|
rs776534924
|
0.00001
|
NM_003072.5(SMARCA4):c.1098C>G (p.Ile366Met)
|
rs532242119
|
0.00001
|
NM_003072.5(SMARCA4):c.1135G>A (p.Ala379Thr)
|
rs769660597
|
0.00001
|
NM_003072.5(SMARCA4):c.1199C>T (p.Ala400Val)
|
rs1246299696
|
0.00001
|
NM_003072.5(SMARCA4):c.1204A>G (p.Ile402Val)
|
rs750861625
|
0.00001
|
NM_003072.5(SMARCA4):c.126G>A (p.Met42Ile)
|
rs765325777
|
0.00001
|
NM_003072.5(SMARCA4):c.1274G>A (p.Arg425Gln)
|
rs377549345
|
0.00001
|
NM_003072.5(SMARCA4):c.1303A>G (p.Asn435Asp)
|
rs371062068
|
0.00001
|
NM_003072.5(SMARCA4):c.131G>A (p.Gly44Glu)
|
rs1344101243
|
0.00001
|
NM_003072.5(SMARCA4):c.1322G>A (p.Arg441His)
|
rs761519909
|
0.00001
|
NM_003072.5(SMARCA4):c.1330C>T (p.Arg444Cys)
|
rs550815250
|
0.00001
|
NM_003072.5(SMARCA4):c.1403G>A (p.Arg468His)
|
rs1310204828
|
0.00001
|
NM_003072.5(SMARCA4):c.140C>T (p.Pro47Leu)
|
rs1284152280
|
0.00001
|
NM_003072.5(SMARCA4):c.1430A>G (p.Asn477Ser)
|
rs748930248
|
0.00001
|
NM_003072.5(SMARCA4):c.1477G>A (p.Val493Ile)
|
rs372078902
|
0.00001
|
NM_003072.5(SMARCA4):c.1517C>T (p.Thr506Met)
|
rs1286498410
|
0.00001
|
NM_003072.5(SMARCA4):c.163C>T (p.Pro55Ser)
|
rs1218848193
|
0.00001
|
NM_003072.5(SMARCA4):c.1762-10C>A
|
rs754221543
|
0.00001
|
NM_003072.5(SMARCA4):c.1765G>A (p.Ala589Thr)
|
rs765850087
|
0.00001
|
NM_003072.5(SMARCA4):c.1774G>A (p.Ala592Thr)
|
rs1257518561
|
0.00001
|
NM_003072.5(SMARCA4):c.1781G>A (p.Gly594Glu)
|
rs750891894
|
0.00001
|
NM_003072.5(SMARCA4):c.1787C>T (p.Thr596Met)
|
rs779952581
|
0.00001
|
NM_003072.5(SMARCA4):c.178G>A (p.Gly60Arg)
|
rs1307434805
|
0.00001
|
NM_003072.5(SMARCA4):c.1796T>C (p.Ile599Thr)
|
rs1207080512
|
0.00001
|
NM_003072.5(SMARCA4):c.1864G>A (p.Val622Met)
|
rs745382051
|
0.00001
|
NM_003072.5(SMARCA4):c.1886C>T (p.Thr629Ile)
|
rs947818318
|
0.00001
|
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp)
|
rs749533909
|
0.00001
|
NM_003072.5(SMARCA4):c.1907C>G (p.Ala636Gly)
|
rs201807686
|
0.00001
|
NM_003072.5(SMARCA4):c.1909G>A (p.Gly637Arg)
|
rs917552239
|
0.00001
|
NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val)
|
rs587778680
|
0.00001
|
NM_003072.5(SMARCA4):c.1933A>T (p.Met645Leu)
|
rs763375817
|
0.00001
|
NM_003072.5(SMARCA4):c.1940C>T (p.Pro647Leu)
|
rs2087817276
|
0.00001
|
NM_003072.5(SMARCA4):c.1958C>T (p.Pro653Leu)
|
rs774927302
|
0.00001
|
NM_003072.5(SMARCA4):c.1982G>A (p.Gly661Asp)
|
rs367689657
|
0.00001
|
NM_003072.5(SMARCA4):c.19C>A (p.Pro7Thr)
|
rs762625346
|
0.00001
|
NM_003072.5(SMARCA4):c.2001+5G>T
|
rs780996751
|
0.00001
|
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu)
|
rs747463080
|
0.00001
|
NM_003072.5(SMARCA4):c.205A>G (p.Met69Val)
|
rs2085822268
|
0.00001
|
NM_003072.5(SMARCA4):c.2066A>T (p.Lys689Met)
|
rs767328169
|
0.00001
|
NM_003072.5(SMARCA4):c.206T>C (p.Met69Thr)
|
rs1443052655
|
0.00001
|
NM_003072.5(SMARCA4):c.2086G>A (p.Asp696Asn)
|
rs1486794288
|
0.00001
|
NM_003072.5(SMARCA4):c.2110C>T (p.Arg704Trp)
|
rs781539973
|
0.00001
|
NM_003072.5(SMARCA4):c.2124-5C>A
|
rs182602020
|
0.00001
|
NM_003072.5(SMARCA4):c.2171T>G (p.Leu724Arg)
|
rs1414018244
|
0.00001
|
NM_003072.5(SMARCA4):c.2177G>A (p.Arg726His)
|
rs749349816
|
0.00001
|
NM_003072.5(SMARCA4):c.218A>G (p.His73Arg)
|
rs748147246
|
0.00001
|
NM_003072.5(SMARCA4):c.220A>C (p.Lys74Gln)
|
rs1060502059
|
0.00001
|
NM_003072.5(SMARCA4):c.2231A>G (p.Lys744Arg)
|
rs1291938544
|
0.00001
|
NM_003072.5(SMARCA4):c.2239G>A (p.Ala747Thr)
|
rs1228221272
|
0.00001
|
NM_003072.5(SMARCA4):c.2240C>T (p.Ala747Val)
|
rs2088720436
|
0.00001
|
NM_003072.5(SMARCA4):c.2257G>A (p.Val753Ile)
|
rs1483352845
|
0.00001
|
NM_003072.5(SMARCA4):c.2396A>G (p.His799Arg)
|
rs747912219
|
0.00001
|
NM_003072.5(SMARCA4):c.2404A>G (p.Ile802Val)
|
rs1454445195
|
0.00001
|
NM_003072.5(SMARCA4):c.2428G>A (p.Val810Met)
|
rs1060502056
|
0.00001
|
NM_003072.5(SMARCA4):c.2438+4A>C
|
rs771818596
|
0.00001
|
NM_003072.5(SMARCA4):c.2439-12T>G
|
rs1462368992
|
0.00001
|
NM_003072.5(SMARCA4):c.2456C>T (p.Ala819Val)
|
rs1276140261
|
0.00001
|
NM_003072.5(SMARCA4):c.2486T>C (p.Val829Ala)
|
rs1455752885
|
0.00001
|
NM_003072.5(SMARCA4):c.2505+4G>A
|
rs745383210
|
0.00001
|
NM_003072.5(SMARCA4):c.2506-3C>T
|
rs1060502095
|
0.00001
|
NM_003072.5(SMARCA4):c.251T>C (p.Met84Thr)
|
rs998875986
|
0.00001
|
NM_003072.5(SMARCA4):c.2528C>T (p.Ala843Val)
|
rs1568482840
|
0.00001
|
NM_003072.5(SMARCA4):c.2533G>A (p.Val845Ile)
|
rs878854210
|
0.00001
|
NM_003072.5(SMARCA4):c.2541G>C (p.Gln847His)
|
rs1064796361
|
0.00001
|
NM_003072.5(SMARCA4):c.2549G>T (p.Ser850Ile)
|
rs1394680906
|
0.00001
|
NM_003072.5(SMARCA4):c.254C>T (p.Ser85Leu)
|
rs751542188
|
0.00001
|
NM_003072.5(SMARCA4):c.2616+5C>T
|
rs763025766
|
0.00001
|
NM_003072.5(SMARCA4):c.266G>A (p.Arg89His)
|
rs1599941069
|
0.00001
|
NM_003072.5(SMARCA4):c.271A>C (p.Asn91His)
|
rs755987663
|
0.00001
|
NM_003072.5(SMARCA4):c.2859+3G>T
|
rs2089905213
|
0.00001
|
NM_003072.5(SMARCA4):c.28G>A (p.Gly10Arg)
|
rs140176945
|
0.00001
|
NM_003072.5(SMARCA4):c.3005C>T (p.Ala1002Val)
|
rs1350288991
|
0.00001
|
NM_003072.5(SMARCA4):c.302G>T (p.Gly101Val)
|
rs1555752083
|
0.00001
|
NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val)
|
rs746602808
|
0.00001
|
NM_003072.5(SMARCA4):c.3086A>G (p.Lys1029Arg)
|
rs1288014090
|
0.00001
|
NM_003072.5(SMARCA4):c.308A>G (p.His103Arg)
|
rs770147215
|
0.00001
|
NM_003072.5(SMARCA4):c.3216-3C>T
|
rs1310639053
|
0.00001
|
NM_003072.5(SMARCA4):c.3218T>A (p.Leu1073Gln)
|
rs767165458
|
0.00001
|
NM_003072.5(SMARCA4):c.3263T>C (p.Ile1088Thr)
|
rs1363642477
|
0.00001
|
NM_003072.5(SMARCA4):c.326C>T (p.Pro109Leu)
|
rs763471007
|
0.00001
|
NM_003072.5(SMARCA4):c.3274C>T (p.Leu1092Phe)
|
rs1292810203
|
0.00001
|
NM_003072.5(SMARCA4):c.3350C>T (p.Ala1117Val)
|
rs755069412
|
0.00001
|
NM_003072.5(SMARCA4):c.3356G>A (p.Arg1119His)
|
rs370466670
|
0.00001
|
NM_003072.5(SMARCA4):c.335C>T (p.Pro112Leu)
|
rs1057523400
|
0.00001
|
NM_003072.5(SMARCA4):c.3383-3C>A
|
rs371558035
|
0.00001
|
NM_003072.5(SMARCA4):c.3409A>G (p.Met1137Val)
|
rs1194707294
|
0.00001
|
NM_003072.5(SMARCA4):c.3437G>A (p.Gly1146Asp)
|
rs566531015
|
0.00001
|
NM_003072.5(SMARCA4):c.344A>G (p.Gln115Arg)
|
rs1268937748
|
0.00001
|
NM_003072.5(SMARCA4):c.350C>T (p.Ser117Phe)
|
rs759594383
|
0.00001
|
NM_003072.5(SMARCA4):c.353A>G (p.Gln118Arg)
|
rs1339250127
|
0.00001
|
NM_003072.5(SMARCA4):c.3574C>T (p.Arg1192Cys)
|
rs1568509370
|
0.00001
|
NM_003072.5(SMARCA4):c.3598C>T (p.Arg1200Cys)
|
rs1600389401
|
0.00001
|
NM_003072.5(SMARCA4):c.35C>T (p.Pro12Leu)
|
rs1201812441
|
0.00001
|
NM_003072.5(SMARCA4):c.3628G>A (p.Val1210Met)
|
rs1358760766
|
0.00001
|
NM_003072.5(SMARCA4):c.371T>A (p.Leu124Gln)
|
rs754451765
|
0.00001
|
NM_003072.5(SMARCA4):c.3734C>T (p.Ala1245Val)
|
rs797045984
|
0.00001
|
NM_003072.5(SMARCA4):c.3774G>A (p.Glu1258=)
|
rs1568510163
|
0.00001
|
NM_003072.5(SMARCA4):c.3841G>A (p.Val1281Ile)
|
rs587778685
|
0.00001
|
NM_003072.5(SMARCA4):c.3874-9A>G
|
rs1371357028
|
0.00001
|
NM_003072.5(SMARCA4):c.3904G>A (p.Val1302Ile)
|
rs1185321977
|
0.00001
|
NM_003072.5(SMARCA4):c.3919G>A (p.Ala1307Thr)
|
rs1568512220
|
0.00001
|
NM_003072.5(SMARCA4):c.400G>T (p.Val134Phe)
|
rs1057520203
|
0.00001
|
NM_003072.5(SMARCA4):c.4042A>G (p.Ile1348Val)
|
rs1221798183
|
0.00001
|
NM_003072.5(SMARCA4):c.4054G>A (p.Ala1352Thr)
|
rs1228120902
|
0.00001
|
NM_003072.5(SMARCA4):c.4067G>A (p.Arg1356Gln)
|
rs1204091534
|
0.00001
|
NM_003072.5(SMARCA4):c.4098G>A (p.Met1366Ile)
|
rs763586264
|
0.00001
|
NM_003072.5(SMARCA4):c.4106G>A (p.Arg1369His)
|
rs1388796557
|
0.00001
|
NM_003072.5(SMARCA4):c.4187C>T (p.Thr1396Met)
|
rs1262500025
|
0.00001
|
NM_003072.5(SMARCA4):c.4210G>A (p.Val1404Ile)
|
rs1555788108
|
0.00001
|
NM_003072.5(SMARCA4):c.4214G>A (p.Arg1405Gln)
|
rs1016382250
|
0.00001
|
NM_003072.5(SMARCA4):c.4221G>T (p.Lys1407Asn)
|
rs1384070535
|
0.00001
|
NM_003072.5(SMARCA4):c.422C>T (p.Ser141Leu)
|
rs1060502073
|
0.00001
|
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln)
|
rs886054155
|
0.00001
|
NM_003072.5(SMARCA4):c.4237C>T (p.Arg1413Cys)
|
rs558017726
|
0.00001
|
NM_003072.5(SMARCA4):c.4244G>A (p.Arg1415Gln)
|
rs878854225
|
0.00001
|
NM_003072.5(SMARCA4):c.4252G>A (p.Asp1418Asn)
|
rs761083981
|
0.00001
|
NM_003072.5(SMARCA4):c.4262C>T (p.Ser1421Phe)
|
rs150958750
|
0.00001
|
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser)
|
rs1060502082
|
0.00001
|
NM_003072.5(SMARCA4):c.4277C>T (p.Thr1426Ile)
|
rs1334955221
|
0.00001
|
NM_003072.5(SMARCA4):c.4286G>A (p.Arg1429His)
|
rs1290442223
|
0.00001
|
NM_003072.5(SMARCA4):c.4291C>T (p.Arg1431Cys)
|
rs587778681
|
0.00001
|
NM_003072.5(SMARCA4):c.4292G>A (p.Arg1431His)
|
rs377573682
|
0.00001
|
NM_003072.5(SMARCA4):c.4306G>A (p.Glu1436Lys)
|
rs779143381
|
0.00001
|
NM_003072.5(SMARCA4):c.4354T>C (p.Ser1452Pro)
|
rs1267513562
|
0.00001
|
NM_003072.5(SMARCA4):c.4436G>A (p.Arg1479His)
|
rs1057523566
|
0.00001
|
NM_003072.5(SMARCA4):c.443G>T (p.Gly148Val)
|
rs766946874
|
0.00001
|
NM_003072.5(SMARCA4):c.4447G>A (p.Glu1483Lys)
|
rs1303255317
|
0.00001
|
NM_003072.5(SMARCA4):c.4497G>C (p.Glu1499Asp)
|
rs1264821826
|
0.00001
|
NM_003072.5(SMARCA4):c.4546A>G (p.Asn1516Asp)
|
rs587778684
|
0.00001
|
NM_003072.5(SMARCA4):c.4547A>G (p.Asn1516Ser)
|
rs767810437
|
0.00001
|
NM_003072.5(SMARCA4):c.455C>T (p.Ala152Val)
|
rs777272957
|
0.00001
|
NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu)
|
rs539710314
|
0.00001
|
NM_003072.5(SMARCA4):c.4592T>A (p.Leu1531His)
|
rs1389184364
|
0.00001
|
NM_003072.5(SMARCA4):c.4664C>T (p.Ser1555Leu)
|
rs1057523990
|
0.00001
|
NM_003072.5(SMARCA4):c.4681C>T (p.Arg1561Trp)
|
rs749700321
|
0.00001
|
NM_003072.5(SMARCA4):c.4693_4695del (p.Glu1565del)
|
rs1176307604
|
0.00001
|
NM_003072.5(SMARCA4):c.4696A>G (p.Lys1566Glu)
|
rs1470609623
|
0.00001
|
NM_003072.5(SMARCA4):c.4717G>A (p.Glu1573Lys)
|
rs775433905
|
0.00001
|
NM_003072.5(SMARCA4):c.472G>A (p.Asp158Asn)
|
rs1386092080
|
0.00001
|
NM_003072.5(SMARCA4):c.4738G>C (p.Glu1580Gln)
|
rs1600644640
|
0.00001
|
NM_003072.5(SMARCA4):c.4744G>A (p.Glu1582Lys)
|
rs768899897
|
0.00001
|
NM_003072.5(SMARCA4):c.4753G>T (p.Gly1585Cys)
|
rs2076756606
|
0.00001
|
NM_003072.5(SMARCA4):c.476C>A (p.Pro159His)
|
rs747458180
|
0.00001
|
NM_003072.5(SMARCA4):c.4771C>T (p.Arg1591Trp)
|
rs1303089960
|
0.00001
|
NM_003072.5(SMARCA4):c.4772G>A (p.Arg1591Gln)
|
rs1356932636
|
0.00001
|
NM_003072.5(SMARCA4):c.4777G>A (p.Val1593Ile)
|
rs753578157
|
0.00001
|
NM_003072.5(SMARCA4):c.4783G>A (p.Val1595Met)
|
rs1568565611
|
0.00001
|
NM_003072.5(SMARCA4):c.4793A>G (p.Lys1598Arg)
|
rs1195158895
|
0.00001
|
NM_003072.5(SMARCA4):c.4802G>A (p.Arg1601Gln)
|
rs1484835507
|
0.00001
|
NM_003072.5(SMARCA4):c.4813G>A (p.Ala1605Thr)
|
rs141224876
|
0.00001
|
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg)
|
rs878854231
|
0.00001
|
NM_003072.5(SMARCA4):c.4822C>T (p.Arg1608Trp)
|
rs1568565786
|
0.00001
|
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser)
|
rs372319442
|
0.00001
|
NM_003072.5(SMARCA4):c.4837C>T (p.Arg1613Trp)
|
rs1370639203
|
0.00001
|
NM_003072.5(SMARCA4):c.4843C>T (p.Arg1615Trp)
|
rs902428108
|
0.00001
|
NM_003072.5(SMARCA4):c.4844G>A (p.Arg1615Gln)
|
rs1278313953
|
0.00001
|
NM_003072.5(SMARCA4):c.4853G>A (p.Arg1618Gln)
|
rs1029465394
|
0.00001
|
NM_003072.5(SMARCA4):c.4862G>A (p.Arg1621Gln)
|
rs964459864
|
0.00001
|
NM_003072.5(SMARCA4):c.4865C>T (p.Ala1622Val)
|
rs1275554425
|
0.00001
|
NM_003072.5(SMARCA4):c.4871C>T (p.Pro1624Leu)
|
rs756255060
|
0.00001
|
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met)
|
rs757412819
|
0.00001
|
NM_003072.5(SMARCA4):c.4885G>A (p.Asp1629Asn)
|
rs374648988
|
0.00001
|
NM_003072.5(SMARCA4):c.4898A>G (p.Glu1633Gly)
|
rs1437896707
|
0.00001
|
NM_003072.5(SMARCA4):c.4907A>G (p.Glu1636Gly)
|
rs1233964657
|
0.00001
|
NM_003072.5(SMARCA4):c.4909G>A (p.Glu1637Lys)
|
rs1298648044
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+1G>A
|
rs1341783002
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+20C>T
|
rs1476216089
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+4A>G
|
rs371030397
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+5G>A
|
rs534705500
|
0.00001
|
NM_003072.5(SMARCA4):c.4911+6G>C
|
rs878854235
|
0.00001
|
NM_003072.5(SMARCA4):c.4915C>T (p.Arg1639Cys)
|
rs776222414
|
0.00001
|
NM_003072.5(SMARCA4):c.499C>T (p.Arg167Trp)
|
rs11537673
|
0.00001
|
NM_003072.5(SMARCA4):c.500G>A (p.Arg167Gln)
|
rs748340475
|
0.00001
|
NM_003072.5(SMARCA4):c.608C>T (p.Ala203Val)
|
rs780497718
|
0.00001
|
NM_003072.5(SMARCA4):c.622C>T (p.Arg208Trp)
|
rs748298484
|
0.00001
|
NM_003072.5(SMARCA4):c.623G>A (p.Arg208Gln)
|
rs769756381
|
0.00001
|
NM_003072.5(SMARCA4):c.630G>T (p.Met210Ile)
|
rs1043452739
|
0.00001
|
NM_003072.5(SMARCA4):c.632C>T (p.Pro211Leu)
|
rs1046912361
|
0.00001
|
NM_003072.5(SMARCA4):c.648G>C (p.Gln216His)
|
rs878854236
|
0.00001
|
NM_003072.5(SMARCA4):c.650T>G (p.Met217Arg)
|
rs1060502066
|
0.00001
|
NM_003072.5(SMARCA4):c.65C>T (p.Pro22Leu)
|
rs1227659334
|
0.00001
|
NM_003072.5(SMARCA4):c.664C>T (p.Pro222Ser)
|
rs1466661081
|
0.00001
|
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu)
|
rs533671711
|
0.00001
|
NM_003072.5(SMARCA4):c.682A>G (p.Thr228Ala)
|
rs1021610405
|
0.00001
|
NM_003072.5(SMARCA4):c.688C>G (p.Pro230Ala)
|
rs760294422
|
0.00001
|
NM_003072.5(SMARCA4):c.691G>A (p.Gly231Ser)
|
rs555467836
|
0.00001
|
NM_003072.5(SMARCA4):c.703G>A (p.Gly235Ser)
|
rs1219033025
|
0.00001
|
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu)
|
rs587778683
|
0.00001
|
NM_003072.5(SMARCA4):c.737C>T (p.Pro246Leu)
|
rs1366344437
|
0.00001
|
NM_003072.5(SMARCA4):c.748A>G (p.Ser250Gly)
|
rs774511507
|
0.00001
|
NM_003072.5(SMARCA4):c.749G>C (p.Ser250Thr)
|
rs1257597317
|
0.00001
|
NM_003072.5(SMARCA4):c.755C>T (p.Pro252Leu)
|
rs1316419985
|
0.00001
|
NM_003072.5(SMARCA4):c.757C>T (p.His253Tyr)
|
rs1210836682
|
0.00001
|
NM_003072.5(SMARCA4):c.761G>C (p.Gly254Ala)
|
rs767708564
|
0.00001
|
NM_003072.5(SMARCA4):c.763A>G (p.Met255Val)
|
rs754085815
|
0.00001
|
NM_003072.5(SMARCA4):c.768A>T (p.Gly256=)
|
rs1599957054
|
0.00001
|
NM_003072.5(SMARCA4):c.780G>C (p.Met260Ile)
|
rs753962571
|
0.00001
|
NM_003072.5(SMARCA4):c.788C>G (p.Pro263Arg)
|
rs1489647083
|
0.00001
|
NM_003072.5(SMARCA4):c.805C>T (p.Pro269Ser)
|
rs759641262
|
0.00001
|
NM_003072.5(SMARCA4):c.811G>A (p.Gly271Arg)
|
rs769414440
|
0.00001
|
NM_003072.5(SMARCA4):c.821G>A (p.Gly274Asp)
|
rs762655769
|
0.00001
|
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser)
|
rs767947665
|
0.00001
|
NM_003072.5(SMARCA4):c.847C>T (p.Pro283Ser)
|
rs775769095
|
0.00001
|
NM_003072.5(SMARCA4):c.865A>G (p.Met289Val)
|
rs750547893
|
0.00001
|
NM_003072.5(SMARCA4):c.869C>T (p.Ala290Val)
|
rs763054014
|
0.00001
|
NM_003072.5(SMARCA4):c.872A>T (p.Asn291Ile)
|
rs751791309
|
0.00001
|
NM_003072.5(SMARCA4):c.890G>A (p.Ser297Asn)
|
rs756170542
|
0.00001
|
NM_003072.5(SMARCA4):c.893C>A (p.Thr298Asn)
|
rs748459210
|
0.00001
|
NM_003072.5(SMARCA4):c.908T>C (p.Ile303Thr)
|
rs778446601
|
0.00001
|
NM_003072.5(SMARCA4):c.925G>A (p.Gly309Ser)
|
rs773701962
|
0.00001
|
NM_003072.5(SMARCA4):c.925G>C (p.Gly309Arg)
|
rs773701962
|
0.00001
|
NM_003072.5(SMARCA4):c.926G>T (p.Gly309Val)
|
rs762999710
|
0.00001
|
NM_003072.5(SMARCA4):c.941C>T (p.Ala314Val)
|
rs549254467
|
0.00001
|
NM_003072.5(SMARCA4):c.947C>T (p.Pro316Leu)
|
rs878854245
|
0.00001
|
NM_003072.5(SMARCA4):c.94C>T (p.Pro32Ser)
|
rs1304026031
|
0.00001
|
NM_003072.5(SMARCA4):c.952G>A (p.Val318Ile)
|
rs758091260
|
0.00001
|
NM_003072.5(SMARCA4):c.958C>T (p.Pro320Ser)
|
rs1460796481
|
0.00001
|
NM_003072.5(SMARCA4):c.95C>T (p.Pro32Leu)
|
rs910095001
|
0.00001
|
NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr)
|
rs1344296942
|
0.00001
|
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met)
|
rs1361910224
|
0.00001
|
NM_003072.5(SMARCA4):c.979C>A (p.Pro327Thr)
|
rs770946823
|
0.00001
|
NM_003072.5(SMARCA4):c.97G>C (p.Gly33Arg)
|
rs1060502096
|
0.00001
|
NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu)
|
rs370097699
|
0.00001
|
NM_003072.5(SMARCA4):c.993G>T (p.Gln331His)
|
rs1599969549
|
0.00001
|
NM_003073.5(SMARCB1):c.*279G>A
|
rs886057287
|
0.00001
|
NM_003073.5(SMARCB1):c.-83C>T
|
rs1374186002
|
0.00001
|
NM_003073.5(SMARCB1):c.500+6G>C
|
rs772329556
|
0.00001
|
NM_003073.5(SMARCB1):c.628+4C>T
|
rs373375336
|
0.00001
|
NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met)
|
rs776693680
|
0.00001
|
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys)
|
rs1368176286
|
0.00001
|
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln)
|
rs2030327999
|
0.00001
|
NM_003640.5(ELP1):c.1294C>T (p.His432Tyr)
|
rs773228197
|
0.00001
|
NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg)
|
rs762636526
|
0.00001
|
NM_003640.5(ELP1):c.2008T>C (p.Phe670Leu)
|
rs376699949
|
0.00001
|
NM_003640.5(ELP1):c.2065C>T (p.Arg689Trp)
|
rs201390288
|
0.00001
|
NM_003640.5(ELP1):c.2134C>T (p.Pro712Ser)
|
rs370772658
|
0.00001
|
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)
|
rs374558203
|
0.00001
|
NM_003640.5(ELP1):c.2243T>G (p.Leu748Arg)
|
rs1034776233
|
0.00001
|
NM_003640.5(ELP1):c.2295A>T (p.Gly765=)
|
rs137874743
|
0.00001
|
NM_003640.5(ELP1):c.22C>T (p.Arg8Trp)
|
rs150202264
|
0.00001
|
NM_003640.5(ELP1):c.2461G>A (p.Asp821Asn)
|
rs770590151
|
0.00001
|
NM_003640.5(ELP1):c.274G>A (p.Val92Ile)
|
rs757852635
|
0.00001
|
NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)
|
rs1239561807
|
0.00001
|
NM_003640.5(ELP1):c.2932T>C (p.Tyr978His)
|
rs1435854424
|
0.00001
|
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg)
|
rs371186754
|
0.00001
|
NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys)
|
rs763981711
|
0.00001
|
NM_003640.5(ELP1):c.3040G>A (p.Ala1014Thr)
|
rs770540843
|
0.00001
|
NM_003640.5(ELP1):c.3551A>G (p.His1184Arg)
|
rs201781695
|
0.00001
|
NM_003640.5(ELP1):c.3903G>T (p.Gln1301His)
|
rs200524123
|
0.00001
|
NM_003640.5(ELP1):c.601C>T (p.Arg201Trp)
|
rs773117166
|
0.00001
|
NM_003640.5(ELP1):c.817C>A (p.Leu273Ile)
|
rs1370759222
|
0.00001
|
NM_003640.5(ELP1):c.856G>C (p.Glu286Gln)
|
rs777790000
|
0.00001
|
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys)
|
rs768246990
|
0.00001
|
NM_003738.5(PTCH2):c.550G>A (p.Val184Met)
|
rs748846701
|
0.00001
|
NM_003924.3(PHOX2B):c.-210C>A
|
rs886059414
|
0.00001
|
NM_003924.4(PHOX2B):c.*1401C>G
|
rs781647693
|
0.00001
|
NM_003924.4(PHOX2B):c.*1644A>T
|
rs886059410
|
0.00001
|
NM_003924.4(PHOX2B):c.251A>G (p.Lys84Arg)
|
rs1397909726
|
0.00001
|
NM_003924.4(PHOX2B):c.275T>C (p.Leu92Pro)
|
rs1477680896
|
0.00001
|
NM_003924.4(PHOX2B):c.279C>G (p.Asn93Lys)
|
rs1459081022
|
0.00001
|
NM_003924.4(PHOX2B):c.497C>A (p.Ala166Glu)
|
rs774521395
|
0.00001
|
NM_003924.4(PHOX2B):c.649_669del (p.Gly217_Ala223del)
|
rs1233756366
|
0.00001
|
NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr)
|
rs1060501118
|
0.00001
|
NM_003924.4(PHOX2B):c.730G>C (p.Ala244Pro)
|
rs1060501124
|
0.00001
|
NM_003924.4(PHOX2B):c.793G>A (p.Ala265Thr)
|
rs1010753155
|
0.00001
|
NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser)
|
rs587778607
|
0.00001
|
NM_003924.4(PHOX2B):c.917C>A (p.Ala306Asp)
|
rs1352110516
|
0.00001
|
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)
|
rs762234006
|
0.00001
|
NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly)
|
rs1733865595
|
0.00001
|
NM_004304.5(ALK):c.-128A>G
|
rs1246468331
|
0.00001
|
NM_004304.5(ALK):c.-276G>A
|
rs886055935
|
0.00001
|
NM_004304.5(ALK):c.-403G>A
|
rs572286447
|
0.00001
|
NM_004304.5(ALK):c.-699A>G
|
rs943046273
|
0.00001
|
NM_004304.5(ALK):c.1007C>T (p.Pro336Leu)
|
rs1450440625
|
0.00001
|
NM_004304.5(ALK):c.1024A>C (p.Ser342Arg)
|
rs973756393
|
0.00001
|
NM_004304.5(ALK):c.1043C>A (p.Ala348Asp)
|
rs760596486
|
0.00001
|
NM_004304.5(ALK):c.104G>A (p.Gly35Glu)
|
rs766479433
|
0.00001
|
NM_004304.5(ALK):c.1067A>G (p.Gln356Arg)
|
rs773367495
|
0.00001
|
NM_004304.5(ALK):c.107C>T (p.Pro36Leu)
|
rs773691688
|
0.00001
|
NM_004304.5(ALK):c.110C>T (p.Pro37Leu)
|
rs1437432300
|
0.00001
|
NM_004304.5(ALK):c.1114G>A (p.Ala372Thr)
|
rs753549939
|
0.00001
|
NM_004304.5(ALK):c.1118G>T (p.Arg373Ile)
|
rs1318677209
|
0.00001
|
NM_004304.5(ALK):c.1127T>C (p.Leu376Pro)
|
rs966612700
|
0.00001
|
NM_004304.5(ALK):c.1133T>C (p.Met378Thr)
|
rs1178669386
|
0.00001
|
NM_004304.5(ALK):c.1134G>A (p.Met378Ile)
|
rs989538225
|
0.00001
|
NM_004304.5(ALK):c.1150C>T (p.His384Tyr)
|
rs1243305009
|
0.00001
|
NM_004304.5(ALK):c.1155T>C (p.Gly385=)
|
rs369505500
|
0.00001
|
NM_004304.5(ALK):c.1180G>A (p.Gly394Arg)
|
rs775514690
|
0.00001
|
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser)
|
rs754512910
|
0.00001
|
NM_004304.5(ALK):c.1219A>C (p.Ile407Leu)
|
rs765139446
|
0.00001
|
NM_004304.5(ALK):c.1228G>A (p.Gly410Arg)
|
rs764207516
|
0.00001
|
NM_004304.5(ALK):c.122G>A (p.Arg41Gln)
|
rs1572503919
|
0.00001
|
NM_004304.5(ALK):c.1237A>G (p.Ser413Gly)
|
rs1477421090
|
0.00001
|
NM_004304.5(ALK):c.1246G>T (p.Ala416Ser)
|
rs775917326
|
0.00001
|
NM_004304.5(ALK):c.1249G>C (p.Val417Leu)
|
rs886055931
|
0.00001
|
NM_004304.5(ALK):c.1269G>C (p.Lys423Asn)
|
rs1370402590
|
0.00001
|
NM_004304.5(ALK):c.1286C>T (p.Thr429Ile)
|
rs775129242
|
0.00001
|
NM_004304.5(ALK):c.128C>G (p.Pro43Arg)
|
rs78378278
|
0.00001
|
NM_004304.5(ALK):c.1306G>C (p.Ala436Pro)
|
rs745772939
|
0.00001
|
NM_004304.5(ALK):c.131T>G (p.Leu44Arg)
|
rs1304641292
|
0.00001
|
NM_004304.5(ALK):c.1379A>G (p.Asp460Gly)
|
rs149198543
|
0.00001
|
NM_004304.5(ALK):c.1391G>T (p.Gly464Val)
|
rs771689864
|
0.00001
|
NM_004304.5(ALK):c.1414+1G>A
|
rs777414641
|
0.00001
|
NM_004304.5(ALK):c.1415-3T>C
|
rs747885672
|
0.00001
|
NM_004304.5(ALK):c.1418A>T (p.Lys473Ile)
|
rs768799403
|
0.00001
|
NM_004304.5(ALK):c.1492A>T (p.Thr498Ser)
|
rs1667013379
|
0.00001
|
NM_004304.5(ALK):c.149A>G (p.Gln50Arg)
|
rs1060500222
|
0.00001
|
NM_004304.5(ALK):c.1516C>G (p.Leu506Val)
|
rs765773161
|
0.00001
|
NM_004304.5(ALK):c.1523A>T (p.Asp508Val)
|
rs995433670
|
0.00001
|
NM_004304.5(ALK):c.1547A>G (p.Asp516Gly)
|
rs761724656
|
0.00001
|
NM_004304.5(ALK):c.1576G>A (p.Val526Ile)
|
rs749779880
|
0.00001
|
NM_004304.5(ALK):c.158G>A (p.Ser53Asn)
|
rs754798392
|
0.00001
|
NM_004304.5(ALK):c.1613C>T (p.Thr538Met)
|
rs775302364
|
0.00001
|
NM_004304.5(ALK):c.1625C>T (p.Pro542Leu)
|
rs372456536
|
0.00001
|
NM_004304.5(ALK):c.1634G>A (p.Ser545Asn)
|
rs147033307
|
0.00001
|
NM_004304.5(ALK):c.1651C>T (p.Arg551Ter)
|
rs1172956542
|
0.00001
|
NM_004304.5(ALK):c.1656G>A (p.Met552Ile)
|
rs1205245551
|
0.00001
|
NM_004304.5(ALK):c.1669C>T (p.Arg557Cys)
|
rs200364883
|
0.00001
|
NM_004304.5(ALK):c.1720G>A (p.Gly574Arg)
|
rs762358335
|
0.00001
|
NM_004304.5(ALK):c.1725G>C (p.Lys575Asn)
|
rs1010580453
|
0.00001
|
NM_004304.5(ALK):c.1726G>T (p.Glu576Ter)
|
rs750740789
|
0.00001
|
NM_004304.5(ALK):c.1729C>A (p.Gln577Lys)
|
rs1430381834
|
0.00001
|
NM_004304.5(ALK):c.1740G>A (p.Met580Ile)
|
rs1460645072
|
0.00001
|
NM_004304.5(ALK):c.1749T>A (p.His583Gln)
|
rs761184891
|
0.00001
|
NM_004304.5(ALK):c.1753G>A (p.Ala585Thr)
|
rs772496459
|
0.00001
|
NM_004304.5(ALK):c.1756G>A (p.Ala586Thr)
|
rs75158395
|
0.00001
|
NM_004304.5(ALK):c.1766G>A (p.Gly589Asp)
|
rs769505453
|
0.00001
|
NM_004304.5(ALK):c.1788G>A (p.Met596Ile)
|
rs1273699854
|
0.00001
|
NM_004304.5(ALK):c.1803del (p.Asp602fs)
|
rs926903893
|
0.00001
|
NM_004304.5(ALK):c.1804G>A (p.Asp602Asn)
|
rs1165866210
|
0.00001
|
NM_004304.5(ALK):c.1833G>A (p.Met611Ile)
|
rs1302907379
|
0.00001
|
NM_004304.5(ALK):c.1867G>A (p.Val623Met)
|
rs768256091
|
0.00001
|
NM_004304.5(ALK):c.1882A>G (p.Ile628Val)
|
rs775145742
|
0.00001
|
NM_004304.5(ALK):c.1908C>G (p.Leu636=)
|
rs1268649558
|
0.00001
|
NM_004304.5(ALK):c.1912+1G>A
|
rs1430369916
|
0.00001
|
NM_004304.5(ALK):c.1913-3C>T
|
rs1209588035
|
0.00001
|
NM_004304.5(ALK):c.1915A>G (p.Ser639Gly)
|
rs1573183673
|
0.00001
|
NM_004304.5(ALK):c.1948C>A (p.Pro650Thr)
|
rs1178904580
|
0.00001
|
NM_004304.5(ALK):c.1962C>A (p.Asn654Lys)
|
rs755124993
|
0.00001
|
NM_004304.5(ALK):c.1978C>G (p.Pro660Ala)
|
rs1321508395
|
0.00001
|
NM_004304.5(ALK):c.2012C>T (p.Pro671Leu)
|
rs767998637
|
0.00001
|
NM_004304.5(ALK):c.2023C>T (p.Pro675Ser)
|
rs1469128263
|
0.00001
|
NM_004304.5(ALK):c.202G>T (p.Ala68Ser)
|
rs1414978905
|
0.00001
|
NM_004304.5(ALK):c.2040A>G (p.Thr680=)
|
rs748335936
|
0.00001
|
NM_004304.5(ALK):c.2041+13C>G
|
rs1293978616
|
0.00001
|
NM_004304.5(ALK):c.2041+4A>G
|
rs1172214438
|
0.00001
|
NM_004304.5(ALK):c.2041+5G>A
|
rs1060500232
|
0.00001
|
NM_004304.5(ALK):c.2050C>G (p.Leu684Val)
|
rs1664810025
|
0.00001
|
NM_004304.5(ALK):c.2059A>G (p.Thr687Ala)
|
rs1465724413
|
0.00001
|
NM_004304.5(ALK):c.2068G>T (p.Ala690Ser)
|
rs375105843
|
0.00001
|
NM_004304.5(ALK):c.2074G>A (p.Gly692Arg)
|
rs373846404
|
0.00001
|
NM_004304.5(ALK):c.2077C>A (p.Pro693Thr)
|
rs1026390293
|
0.00001
|
NM_004304.5(ALK):c.208G>A (p.Asp70Asn)
|
rs1365620880
|
0.00001
|
NM_004304.5(ALK):c.2110G>A (p.Ala704Thr)
|
rs34829159
|
0.00001
|
NM_004304.5(ALK):c.2131A>C (p.Ser711Arg)
|
rs1166188112
|
0.00001
|
NM_004304.5(ALK):c.2134G>A (p.Val712Met)
|
rs78723472
|
0.00001
|
NM_004304.5(ALK):c.2144G>A (p.Gly715Glu)
|
rs763862465
|
0.00001
|
NM_004304.5(ALK):c.2168T>C (p.Ile723Thr)
|
rs1664804969
|
0.00001
|
NM_004304.5(ALK):c.2204+5G>A
|
rs367892725
|
0.00001
|
NM_004304.5(ALK):c.2218G>A (p.Gly740Arg)
|
rs766541301
|
0.00001
|
NM_004304.5(ALK):c.221C>T (p.Pro74Leu)
|
rs1187464179
|
0.00001
|
NM_004304.5(ALK):c.2243A>C (p.Lys748Thr)
|
rs1558633442
|
0.00001
|
NM_004304.5(ALK):c.2264A>T (p.His755Leu)
|
rs375480327
|
0.00001
|
NM_004304.5(ALK):c.2269G>A (p.Val757Met)
|
rs371005946
|
0.00001
|
NM_004304.5(ALK):c.22T>C (p.Trp8Arg)
|
rs1222954765
|
0.00001
|
NM_004304.5(ALK):c.2302G>A (p.Asp768Asn)
|
rs766666105
|
0.00001
|
NM_004304.5(ALK):c.2304T>C (p.Asp768=)
|
rs758649392
|
0.00001
|
NM_004304.5(ALK):c.2330A>C (p.Gln777Pro)
|
rs1448527132
|
0.00001
|
NM_004304.5(ALK):c.2354G>A (p.Ser785Asn)
|
rs1441640593
|
0.00001
|
NM_004304.5(ALK):c.2373G>C (p.Gln791His)
|
rs1344236918
|
0.00001
|
NM_004304.5(ALK):c.2431G>A (p.Val811Met)
|
rs771935814
|
0.00001
|
NM_004304.5(ALK):c.244G>A (p.Ala82Thr)
|
rs1322397265
|
0.00001
|
NM_004304.5(ALK):c.2480T>C (p.Val827Ala)
|
rs753584062
|
0.00001
|
NM_004304.5(ALK):c.2487+4T>C
|
rs368430854
|
0.00001
|
NM_004304.5(ALK):c.2488A>T (p.Met830Leu)
|
rs780536554
|
0.00001
|
NM_004304.5(ALK):c.24G>T (p.Trp8Cys)
|
rs749905243
|
0.00001
|
NM_004304.5(ALK):c.2503C>T (p.Pro835Ser)
|
rs763771560
|
0.00001
|
NM_004304.5(ALK):c.2519T>C (p.Ile840Thr)
|
rs774200047
|
0.00001
|
NM_004304.5(ALK):c.2527G>A (p.Gly843Arg)
|
rs748379491
|
0.00001
|
NM_004304.5(ALK):c.254C>T (p.Pro85Leu)
|
rs748100651
|
0.00001
|
NM_004304.5(ALK):c.2560G>A (p.Asp854Asn)
|
rs189078025
|
0.00001
|
NM_004304.5(ALK):c.2579G>T (p.Arg860Ile)
|
rs1194282326
|
0.00001
|
NM_004304.5(ALK):c.2584G>A (p.Glu862Lys)
|
rs1461504517
|
0.00001
|
NM_004304.5(ALK):c.2597C>T (p.Ser866Leu)
|
rs528844155
|
0.00001
|
NM_004304.5(ALK):c.2603T>A (p.Leu868Gln)
|
rs55941323
|
0.00001
|
NM_004304.5(ALK):c.2609T>C (p.Leu870Pro)
|
rs1279549141
|
0.00001
|
NM_004304.5(ALK):c.2614G>A (p.Gly872Ser)
|
rs1343280200
|
0.00001
|
NM_004304.5(ALK):c.2624G>A (p.Gly875Glu)
|
rs374375387
|
0.00001
|
NM_004304.5(ALK):c.2629G>A (p.Ala877Thr)
|
rs746442213
|
0.00001
|
NM_004304.5(ALK):c.262C>A (p.Arg88Ser)
|
rs754768477
|
0.00001
|
NM_004304.5(ALK):c.2653G>A (p.Asp885Asn)
|
rs925802421
|
0.00001
|
NM_004304.5(ALK):c.2657A>T (p.Asn886Ile)
|
rs1452092742
|
0.00001
|
NM_004304.5(ALK):c.2666T>C (p.Leu889Ser)
|
rs1203845715
|
0.00001
|
NM_004304.5(ALK):c.2677G>A (p.Gly893Arg)
|
rs764014697
|
0.00001
|
NM_004304.5(ALK):c.2704G>A (p.Gly902Arg)
|
rs774488715
|
0.00001
|
NM_004304.5(ALK):c.2710C>T (p.His904Tyr)
|
rs1474942302
|
0.00001
|
NM_004304.5(ALK):c.2723A>G (p.Gln908Arg)
|
rs1573134667
|
0.00001
|
NM_004304.5(ALK):c.2740G>A (p.Gly914Arg)
|
rs1220052371
|
0.00001
|
NM_004304.5(ALK):c.2776G>A (p.Gly926Arg)
|
rs1664097034
|
0.00001
|
NM_004304.5(ALK):c.2789C>T (p.Ser930Leu)
|
rs767777102
|
0.00001
|
NM_004304.5(ALK):c.2803G>A (p.Gly935Arg)
|
rs766551269
|
0.00001
|
NM_004304.5(ALK):c.2822A>G (p.Asn941Ser)
|
rs368654781
|
0.00001
|
NM_004304.5(ALK):c.289C>T (p.Pro97Ser)
|
rs1331610896
|
0.00001
|
NM_004304.5(ALK):c.2900C>A (p.Thr967Asn)
|
rs780284256
|
0.00001
|
NM_004304.5(ALK):c.2906C>G (p.Ala969Gly)
|
rs954019663
|
0.00001
|
NM_004304.5(ALK):c.290C>G (p.Pro97Arg)
|
rs765290844
|
0.00001
|
NM_004304.5(ALK):c.2914+5C>T
|
rs750459441
|
0.00001
|
NM_004304.5(ALK):c.2924G>C (p.Gly975Ala)
|
rs1472378906
|
0.00001
|
NM_004304.5(ALK):c.2929G>A (p.Gly977Arg)
|
rs568177600
|
0.00001
|
NM_004304.5(ALK):c.2980G>A (p.Glu994Lys)
|
rs150344432
|
0.00001
|
NM_004304.5(ALK):c.3002G>A (p.Ser1001Asn)
|
rs997289275
|
0.00001
|
NM_004304.5(ALK):c.3004C>T (p.His1002Tyr)
|
rs764036965
|
0.00001
|
NM_004304.5(ALK):c.3014T>C (p.Ile1005Thr)
|
rs1452461214
|
0.00001
|
NM_004304.5(ALK):c.3065T>C (p.Ile1022Thr)
|
rs778643763
|
0.00001
|
NM_004304.5(ALK):c.3067+3A>G
|
rs753385730
|
0.00001
|
NM_004304.5(ALK):c.3094C>T (p.Pro1032Ser)
|
rs369347067
|
0.00001
|
NM_004304.5(ALK):c.3095C>T (p.Pro1032Leu)
|
rs752256731
|
0.00001
|
NM_004304.5(ALK):c.3097C>T (p.Leu1033Phe)
|
rs139365887
|
0.00001
|
NM_004304.5(ALK):c.3104T>G (p.Leu1035Arg)
|
rs1366270319
|
0.00001
|
NM_004304.5(ALK):c.3128C>T (p.Ala1043Val)
|
rs757521797
|
0.00001
|
NM_004304.5(ALK):c.3173T>C (p.Val1058Ala)
|
rs772708400
|
0.00001
|
NM_004304.5(ALK):c.317C>G (p.Pro106Arg)
|
rs1037485859
|
0.00001
|
NM_004304.5(ALK):c.3181C>T (p.Arg1061Trp)
|
rs371521416
|
0.00001
|
NM_004304.5(ALK):c.3189C>G (p.His1063Gln)
|
rs1669866903
|
0.00001
|
NM_004304.5(ALK):c.320G>T (p.Gly107Val)
|
rs762635291
|
0.00001
|
NM_004304.5(ALK):c.322G>A (p.Val108Ile)
|
rs1338077965
|
0.00001
|
NM_004304.5(ALK):c.3233A>G (p.Tyr1078Cys)
|
rs912992612
|
0.00001
|
NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr)
|
rs754163075
|
0.00001
|
NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile)
|
rs113994090
|
0.00001
|
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn)
|
rs864309584
|
0.00001
|
NM_004304.5(ALK):c.3313A>G (p.Ile1105Val)
|
rs1426033956
|
0.00001
|
NM_004304.5(ALK):c.3335C>T (p.Pro1112Leu)
|
rs1319794557
|
0.00001
|
NM_004304.5(ALK):c.3358C>T (p.Arg1120Trp)
|
rs774951734
|
0.00001
|
NM_004304.5(ALK):c.3361G>A (p.Gly1121Ser)
|
rs781411935
|
0.00001
|
NM_004304.5(ALK):c.3376G>A (p.Ala1126Thr)
|
rs757580052
|
0.00001
|
NM_004304.5(ALK):c.3416C>T (p.Pro1139Leu)
|
rs769855519
|
0.00001
|
NM_004304.5(ALK):c.3421G>A (p.Asp1141Asn)
|
rs748493584
|
0.00001
|
NM_004304.5(ALK):c.343C>T (p.Pro115Ser)
|
rs1023682229
|
0.00001
|
NM_004304.5(ALK):c.344C>T (p.Pro115Leu)
|
rs1222939884
|
0.00001
|
NM_004304.5(ALK):c.3476A>T (p.Gln1159Leu)
|
rs1270501196
|
0.00001
|
NM_004304.5(ALK):c.3497T>C (p.Met1166Thr)
|
rs1057520019
|
0.00001
|
NM_004304.5(ALK):c.349C>T (p.Pro117Ser)
|
rs1289331589
|
0.00001
|
NM_004304.5(ALK):c.3524A>G (p.Asn1175Ser)
|
rs774872969
|
0.00001
|
NM_004304.5(ALK):c.352G>C (p.Ala118Pro)
|
rs1383948379
|
0.00001
|
NM_004304.5(ALK):c.3541C>T (p.Arg1181Cys)
|
rs56315533
|
0.00001
|
NM_004304.5(ALK):c.3547A>G (p.Ile1183Val)
|
rs770456378
|
0.00001
|
NM_004304.5(ALK):c.3548T>C (p.Ile1183Thr)
|
rs1002995598
|
0.00001
|
NM_004304.5(ALK):c.3553G>T (p.Val1185Leu)
|
rs749016081
|
0.00001
|
NM_004304.5(ALK):c.3566C>A (p.Ser1189Tyr)
|
rs971799902
|
0.00001
|
NM_004304.5(ALK):c.3572C>A (p.Pro1191His)
|
rs1060500210
|
0.00001
|
NM_004304.5(ALK):c.3575G>A (p.Arg1192Gln)
|
rs113994089
|
0.00001
|
NM_004304.5(ALK):c.357G>T (p.Glu119Asp)
|
rs758250431
|
0.00001
|
NM_004304.5(ALK):c.3607G>A (p.Asp1203Asn)
|
rs759845895
|
0.00001
|
NM_004304.5(ALK):c.3626G>A (p.Arg1209Gln)
|
rs747643140
|
0.00001
|
NM_004304.5(ALK):c.362G>A (p.Arg121Gln)
|
rs779147984
|
0.00001
|
NM_004304.5(ALK):c.3634C>T (p.Arg1212Cys)
|
rs1462510005
|
0.00001
|
NM_004304.5(ALK):c.3640C>T (p.Arg1214Cys)
|
rs758172315
|
0.00001
|
NM_004304.5(ALK):c.3644C>A (p.Pro1215Gln)
|
rs779222532
|
0.00001
|
NM_004304.5(ALK):c.365C>T (p.Thr122Met)
|
rs1367800764
|
0.00001
|
NM_004304.5(ALK):c.3685G>T (p.Val1229Leu)
|
rs776228721
|
0.00001
|
NM_004304.5(ALK):c.370T>C (p.Ser124Pro)
|
rs1364916594
|
0.00001
|
NM_004304.5(ALK):c.3743+1G>C
|
rs1333697872
|
0.00001
|
NM_004304.5(ALK):c.3743G>A (p.Arg1248Gln)
|
rs368059424
|
0.00001
|
NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr)
|
rs113994092
|
0.00001
|
NM_004304.5(ALK):c.376G>A (p.Val126Met)
|
rs753812162
|
0.00001
|
NM_004304.5(ALK):c.3784C>T (p.Pro1262Ser)
|
rs774360880
|
0.00001
|
NM_004304.5(ALK):c.3812T>A (p.Phe1271Tyr)
|
rs1348950153
|
0.00001
|
NM_004304.5(ALK):c.3814G>A (p.Gly1272Arg)
|
rs770027238
|
0.00001
|
NM_004304.5(ALK):c.3820G>A (p.Ala1274Thr)
|
rs45502292
|
0.00001
|
NM_004304.5(ALK):c.3839C>T (p.Ala1280Val)
|
rs74716434
|
0.00001
|
NM_004304.5(ALK):c.3842G>A (p.Ser1281Asn)
|
rs761459938
|
0.00001
|
NM_004304.5(ALK):c.3938+4A>G
|
rs754655331
|
0.00001
|
NM_004304.5(ALK):c.3958T>C (p.Trp1320Arg)
|
rs779796155
|
0.00001
|
NM_004304.5(ALK):c.3969T>G (p.Phe1323Leu)
|
rs1372668818
|
0.00001
|
NM_004304.5(ALK):c.3978A>G (p.Gly1326=)
|
rs200256900
|
0.00001
|
NM_004304.5(ALK):c.3992C>A (p.Pro1331His)
|
rs370364694
|
0.00001
|
NM_004304.5(ALK):c.4000A>G (p.Ser1334Gly)
|
rs1307066116
|
0.00001
|
NM_004304.5(ALK):c.4015C>G (p.Leu1339Val)
|
rs1416439647
|
0.00001
|
NM_004304.5(ALK):c.4040G>A (p.Arg1347Gln)
|
rs573049471
|
0.00001
|
NM_004304.5(ALK):c.4045G>C (p.Asp1349His)
|
rs368744524
|
0.00001
|
NM_004304.5(ALK):c.4059C>A (p.Asn1353Lys)
|
rs1352529334
|
0.00001
|
NM_004304.5(ALK):c.4061G>T (p.Cys1354Phe)
|
rs963770969
|
0.00001
|
NM_004304.5(ALK):c.4072G>A (p.Val1358Ile)
|
rs774271469
|
0.00001
|
NM_004304.5(ALK):c.4073+6A>C
|
rs1404039400
|
0.00001
|
NM_004304.5(ALK):c.4078C>T (p.Arg1360Trp)
|
rs777303002
|
0.00001
|
NM_004304.5(ALK):c.409C>A (p.Arg137Ser)
|
rs757382067
|
0.00001
|
NM_004304.5(ALK):c.4112A>G (p.Glu1371Gly)
|
rs781021461
|
0.00001
|
NM_004304.5(ALK):c.4114G>A (p.Asp1372Asn)
|
rs535864522
|
0.00001
|
NM_004304.5(ALK):c.4121C>A (p.Pro1374His)
|
rs780310741
|
0.00001
|
NM_004304.5(ALK):c.4138T>G (p.Leu1380Val)
|
rs1060500216
|
0.00001
|
NM_004304.5(ALK):c.4148T>C (p.Ile1383Thr)
|
rs1558606063
|
0.00001
|
NM_004304.5(ALK):c.415A>G (p.Lys139Glu)
|
rs749530596
|
0.00001
|
NM_004304.5(ALK):c.4171G>A (p.Asp1391Asn)
|
rs1231708230
|
0.00001
|
NM_004304.5(ALK):c.4196T>C (p.Ile1399Thr)
|
rs746970974
|
0.00001
|
NM_004304.5(ALK):c.4208C>T (p.Pro1403Leu)
|
rs1212504281
|
0.00001
|
NM_004304.5(ALK):c.4222G>A (p.Glu1408Lys)
|
rs145600484
|
0.00001
|
NM_004304.5(ALK):c.4226A>G (p.Glu1409Gly)
|
rs1286165795
|
0.00001
|
NM_004304.5(ALK):c.4228A>G (p.Lys1410Glu)
|
rs755276699
|
0.00001
|
NM_004304.5(ALK):c.4231G>C (p.Val1411Leu)
|
rs748638070
|
0.00001
|
NM_004304.5(ALK):c.4237G>A (p.Val1413Met)
|
rs560530815
|
0.00001
|
NM_004304.5(ALK):c.4241G>A (p.Arg1414Lys)
|
rs77762612
|
0.00001
|
NM_004304.5(ALK):c.4248G>T (p.Lys1416Asn)
|
rs55782189
|
0.00001
|
NM_004304.5(ALK):c.4261G>A (p.Val1421Ile)
|
rs774358799
|
0.00001
|
NM_004304.5(ALK):c.4261G>T (p.Val1421Phe)
|
rs774358799
|
0.00001
|
NM_004304.5(ALK):c.4286A>C (p.Gln1429Pro)
|
rs55906201
|
0.00001
|
NM_004304.5(ALK):c.4286A>G (p.Gln1429Arg)
|
rs55906201
|
0.00001
|
NM_004304.5(ALK):c.428T>A (p.Leu143Gln)
|
rs777656583
|
0.00001
|
NM_004304.5(ALK):c.4303G>A (p.Glu1435Lys)
|
rs769694344
|
0.00001
|
NM_004304.5(ALK):c.4307G>A (p.Arg1436His)
|
rs544926207
|
0.00001
|
NM_004304.5(ALK):c.4318G>C (p.Ala1440Pro)
|
rs1307483937
|
0.00001
|
NM_004304.5(ALK):c.4344C>T (p.Ser1448=)
|
rs886055929
|
0.00001
|
NM_004304.5(ALK):c.4348G>A (p.Gly1450Ser)
|
rs1346420173
|
0.00001
|
NM_004304.5(ALK):c.434T>C (p.Leu145Pro)
|
rs1305698643
|
0.00001
|
NM_004304.5(ALK):c.4357G>A (p.Ala1453Thr)
|
rs752317227
|
0.00001
|
NM_004304.5(ALK):c.4379A>G (p.Glu1460Gly)
|
rs773248596
|
0.00001
|
NM_004304.5(ALK):c.4390C>G (p.Arg1464Gly)
|
rs374135358
|
0.00001
|
NM_004304.5(ALK):c.439G>A (p.Glu147Lys)
|
rs756273623
|
0.00001
|
NM_004304.5(ALK):c.4411G>A (p.Val1471Met)
|
rs201759867
|
0.00001
|
NM_004304.5(ALK):c.4416A>T (p.Glu1472Asp)
|
rs538459690
|
0.00001
|
NM_004304.5(ALK):c.4418G>A (p.Gly1473Glu)
|
rs1174344092
|
0.00001
|
NM_004304.5(ALK):c.4421G>A (p.Gly1474Glu)
|
rs1293939080
|
0.00001
|
NM_004304.5(ALK):c.4427T>C (p.Val1476Ala)
|
rs1329539708
|
0.00001
|
NM_004304.5(ALK):c.443A>T (p.Glu148Val)
|
rs1331266292
|
0.00001
|
NM_004304.5(ALK):c.4445A>C (p.Gln1482Pro)
|
rs751473124
|
0.00001
|
NM_004304.5(ALK):c.4451A>G (p.Asn1484Ser)
|
rs752320442
|
0.00001
|
NM_004304.5(ALK):c.4460C>T (p.Ser1487Leu)
|
rs1182539285
|
0.00001
|
NM_004304.5(ALK):c.446C>T (p.Ala149Val)
|
rs374276783
|
0.00001
|
NM_004304.5(ALK):c.4474G>A (p.Val1492Ile)
|
rs567438064
|
0.00001
|
NM_004304.5(ALK):c.4554G>T (p.Lys1518Asn)
|
rs774746810
|
0.00001
|
NM_004304.5(ALK):c.4565T>C (p.Ile1522Thr)
|
rs771352312
|
0.00001
|
NM_004304.5(ALK):c.4565T>G (p.Ile1522Arg)
|
rs771352312
|
0.00001
|
NM_004304.5(ALK):c.4585G>A (p.Asp1529Asn)
|
rs779663817
|
0.00001
|
NM_004304.5(ALK):c.4601G>A (p.Gly1534Glu)
|
rs139185626
|
0.00001
|
NM_004304.5(ALK):c.4608G>A (p.Glu1536=)
|
rs147241767
|
0.00001
|
NM_004304.5(ALK):c.4632C>A (p.Asn1544Lys)
|
rs763403897
|
0.00001
|
NM_004304.5(ALK):c.4633G>A (p.Val1545Ile)
|
rs1296992304
|
0.00001
|
NM_004304.5(ALK):c.4636G>C (p.Ala1546Pro)
|
rs1668930591
|
0.00001
|
NM_004304.5(ALK):c.464T>A (p.Val155Asp)
|
rs1206463887
|
0.00001
|
NM_004304.5(ALK):c.4652C>T (p.Pro1551Leu)
|
rs200425614
|
0.00001
|
NM_004304.5(ALK):c.4658C>G (p.Ala1553Gly)
|
rs1553386898
|
0.00001
|
NM_004304.5(ALK):c.4685T>G (p.Leu1562Arg)
|
rs974930400
|
0.00001
|
NM_004304.5(ALK):c.4694A>G (p.Asn1565Ser)
|
rs1208409389
|
0.00001
|
NM_004304.5(ALK):c.4698G>A (p.Met1566Ile)
|
rs1291120133
|
0.00001
|
NM_004304.5(ALK):c.4701G>C (p.Lys1567Asn)
|
rs1413940049
|
0.00001
|
NM_004304.5(ALK):c.4724G>A (p.Arg1575His)
|
rs745349865
|
0.00001
|
NM_004304.5(ALK):c.4729T>G (p.Phe1577Val)
|
rs200829376
|
0.00001
|
NM_004304.5(ALK):c.472C>A (p.Pro158Thr)
|
rs536284304
|
0.00001
|
NM_004304.5(ALK):c.4744G>A (p.Val1582Ile)
|
rs1553386863
|
0.00001
|
NM_004304.5(ALK):c.4753G>T (p.Gly1585Cys)
|
rs1573077410
|
0.00001
|
NM_004304.5(ALK):c.475G>A (p.Gly159Arg)
|
rs367875912
|
0.00001
|
NM_004304.5(ALK):c.4761G>C (p.Gln1587His)
|
rs1396711236
|
0.00001
|
NM_004304.5(ALK):c.4768G>A (p.Gly1590Ser)
|
rs190639819
|
0.00001
|
NM_004304.5(ALK):c.478G>A (p.Glu160Lys)
|
rs1667952034
|
0.00001
|
NM_004304.5(ALK):c.4804G>A (p.Gly1602Ser)
|
rs747161831
|
0.00001
|
NM_004304.5(ALK):c.4809T>C (p.His1603=)
|
rs758502850
|
0.00001
|
NM_004304.5(ALK):c.4826T>C (p.Leu1609Pro)
|
rs1668919067
|
0.00001
|
NM_004304.5(ALK):c.4830A>T (p.Lys1610Asn)
|
rs766072801
|
0.00001
|
NM_004304.5(ALK):c.4845G>A (p.Met1615Ile)
|
rs747978928
|
0.00001
|
NM_004304.5(ALK):c.4849C>T (p.Gln1617Ter)
|
rs1345614251
|
0.00001
|
NM_004304.5(ALK):c.490G>A (p.Gly164Arg)
|
rs1060500219
|
0.00001
|
NM_004304.5(ALK):c.501G>T (p.Gln167His)
|
rs781440137
|
0.00001
|
NM_004304.5(ALK):c.502T>C (p.Phe168Leu)
|
rs1374532256
|
0.00001
|
NM_004304.5(ALK):c.512G>A (p.Ser171Asn)
|
rs753403262
|
0.00001
|
NM_004304.5(ALK):c.514G>A (p.Glu172Lys)
|
rs1667950677
|
0.00001
|
NM_004304.5(ALK):c.520T>C (p.Phe174Leu)
|
rs1667950450
|
0.00001
|
NM_004304.5(ALK):c.522C>A (p.Phe174Leu)
|
rs587778020
|
0.00001
|
NM_004304.5(ALK):c.526T>C (p.Trp176Arg)
|
rs1365096158
|
0.00001
|
NM_004304.5(ALK):c.52G>C (p.Ala18Pro)
|
rs1203105916
|
0.00001
|
NM_004304.5(ALK):c.548G>T (p.Gly183Val)
|
rs1060500223
|
0.00001
|
NM_004304.5(ALK):c.55G>A (p.Val19Met)
|
rs1057384991
|
0.00001
|
NM_004304.5(ALK):c.562C>T (p.Arg188Cys)
|
rs1306212162
|
0.00001
|
NM_004304.5(ALK):c.568A>G (p.Met190Val)
|
rs901176586
|
0.00001
|
NM_004304.5(ALK):c.574G>A (p.Glu192Lys)
|
rs770006984
|
0.00001
|
NM_004304.5(ALK):c.587C>T (p.Ser196Leu)
|
rs1235761698
|
0.00001
|
NM_004304.5(ALK):c.623T>C (p.Ile208Thr)
|
rs372226787
|
0.00001
|
NM_004304.5(ALK):c.641G>A (p.Arg214His)
|
rs766999851
|
0.00001
|
NM_004304.5(ALK):c.653A>G (p.Gln218Arg)
|
rs751419585
|
0.00001
|
NM_004304.5(ALK):c.655A>G (p.Ile219Val)
|
rs886055932
|
0.00001
|
NM_004304.5(ALK):c.658T>C (p.Phe220Leu)
|
rs1484797934
|
0.00001
|
NM_004304.5(ALK):c.667+16C>G
|
rs768827717
|
0.00001
|
NM_004304.5(ALK):c.667+6C>G
|
rs1292761264
|
0.00001
|
NM_004304.5(ALK):c.670C>T (p.His224Tyr)
|
rs1407129567
|
0.00001
|
NM_004304.5(ALK):c.686C>T (p.Ser229Leu)
|
rs1447260360
|
0.00001
|
NM_004304.5(ALK):c.699G>A (p.Met233Ile)
|
rs778129557
|
0.00001
|
NM_004304.5(ALK):c.709T>C (p.Ser237Pro)
|
rs757916299
|
0.00001
|
NM_004304.5(ALK):c.730A>T (p.Asn244Tyr)
|
rs753646573
|
0.00001
|
NM_004304.5(ALK):c.731A>C (p.Asn244Thr)
|
rs763986679
|
0.00001
|
NM_004304.5(ALK):c.74C>T (p.Thr25Ile)
|
rs753812499
|
0.00001
|
NM_004304.5(ALK):c.76G>A (p.Gly26Ser)
|
rs1060500214
|
0.00001
|
NM_004304.5(ALK):c.775C>T (p.Arg259Cys)
|
rs771593278
|
0.00001
|
NM_004304.5(ALK):c.79C>G (p.Gln27Glu)
|
rs1469224885
|
0.00001
|
NM_004304.5(ALK):c.830C>T (p.Ser277Phe)
|
rs1486167712
|
0.00001
|
NM_004304.5(ALK):c.832C>T (p.Pro278Ser)
|
rs762417760
|
0.00001
|
NM_004304.5(ALK):c.839T>C (p.Leu280Pro)
|
rs764532876
|
0.00001
|
NM_004304.5(ALK):c.843T>A (p.His281Gln)
|
rs759250272
|
0.00001
|
NM_004304.5(ALK):c.84C>T (p.Arg28=)
|
rs1355709394
|
0.00001
|
NM_004304.5(ALK):c.884C>T (p.Ser295Phe)
|
rs754823963
|
0.00001
|
NM_004304.5(ALK):c.892G>A (p.Ala298Thr)
|
rs577240830
|
0.00001
|
NM_004304.5(ALK):c.893C>G (p.Ala298Gly)
|
rs750435024
|
0.00001
|
NM_004304.5(ALK):c.902T>A (p.Met301Lys)
|
rs372244228
|
0.00001
|
NM_004304.5(ALK):c.904G>C (p.Asp302His)
|
rs1275855734
|
0.00001
|
NM_004304.5(ALK):c.922G>A (p.Gly308Arg)
|
rs1553348499
|
0.00001
|
NM_004304.5(ALK):c.940G>A (p.Glu314Lys)
|
rs538448899
|
0.00001
|
NM_004304.5(ALK):c.946C>A (p.Pro316Thr)
|
rs1254406721
|
0.00001
|
NM_004304.5(ALK):c.94C>G (p.Pro32Ala)
|
rs573276657
|
0.00001
|
NM_004304.5(ALK):c.980C>A (p.Ala327Asp)
|
rs1414553731
|
0.00001
|
NM_004304.5(ALK):c.989A>G (p.Lys330Arg)
|
rs781677582
|
0.00001
|
NM_004484.4(GPC3):c.1070A>G (p.Tyr357Cys)
|
rs757269723
|
0.00001
|
NM_004484.4(GPC3):c.1087C>T (p.Pro363Ser)
|
rs922588870
|
0.00001
|
NM_004484.4(GPC3):c.118T>C (p.Ser40Pro)
|
rs1238291553
|
0.00001
|
NM_004484.4(GPC3):c.1220G>A (p.Gly407Asp)
|
rs752259157
|
0.00001
|
NM_004484.4(GPC3):c.1256A>G (p.Asp419Gly)
|
rs1185485932
|
0.00001
|
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg)
|
rs749874149
|
0.00001
|
NM_004484.4(GPC3):c.1292+6C>T
|
rs1207247416
|
0.00001
|
NM_004484.4(GPC3):c.1373T>C (p.Val458Ala)
|
rs1392958281
|
0.00001
|
NM_004484.4(GPC3):c.1378A>C (p.Ser460Arg)
|
rs769964258
|
0.00001
|
NM_004484.4(GPC3):c.1413+4T>C
|
rs1468820113
|
0.00001
|
NM_004484.4(GPC3):c.1535G>A (p.Gly512Glu)
|
rs1162314906
|
0.00001
|
NM_004484.4(GPC3):c.154G>C (p.Val52Leu)
|
rs1221218346
|
0.00001
|
NM_004484.4(GPC3):c.1550A>G (p.Lys517Arg)
|
rs758464784
|
0.00001
|
NM_004484.4(GPC3):c.1568T>C (p.Leu523Pro)
|
rs1015207544
|
0.00001
|
NM_004484.4(GPC3):c.1604C>T (p.Ala535Val)
|
rs750138489
|
0.00001
|
NM_004484.4(GPC3):c.1642G>A (p.Glu548Lys)
|
rs372317881
|
0.00001
|
NM_004484.4(GPC3):c.1729T>C (p.Phe577Leu)
|
rs755635706
|
0.00001
|
NM_004484.4(GPC3):c.1736T>G (p.Val579Gly)
|
rs1197981146
|
0.00001
|
NM_004484.4(GPC3):c.1739A>G (p.His580Arg)
|
rs1449654880
|
0.00001
|
NM_004484.4(GPC3):c.174A>G (p.Pro58=)
|
rs1357590429
|
0.00001
|
NM_004484.4(GPC3):c.368A>G (p.Lys123Arg)
|
rs1490064135
|
0.00001
|
NM_004484.4(GPC3):c.391A>G (p.Lys131Glu)
|
rs1295553120
|
0.00001
|
NM_004484.4(GPC3):c.421G>A (p.Ala141Thr)
|
rs1360346581
|
0.00001
|
NM_004484.4(GPC3):c.482T>C (p.Ile161Thr)
|
rs1194302542
|
0.00001
|
NM_004484.4(GPC3):c.526C>G (p.Pro176Ala)
|
rs748458384
|
0.00001
|
NM_004484.4(GPC3):c.549G>T (p.Met183Ile)
|
rs769104574
|
0.00001
|
NM_004484.4(GPC3):c.596G>A (p.Arg199Gln)
|
rs1389517208
|
0.00001
|
NM_004484.4(GPC3):c.602C>G (p.Ala201Gly)
|
rs201344338
|
0.00001
|
NM_004484.4(GPC3):c.611A>G (p.Asp204Gly)
|
rs1290496193
|
0.00001
|
NM_004484.4(GPC3):c.624T>A (p.Phe208Leu)
|
rs140848049
|
0.00001
|
NM_004484.4(GPC3):c.682A>C (p.Ile228Leu)
|
rs774682860
|
0.00001
|
NM_004484.4(GPC3):c.753C>A (p.Asp251Glu)
|
rs770414070
|
0.00001
|
NM_004484.4(GPC3):c.787T>A (p.Ser263Thr)
|
rs1447010765
|
0.00001
|
NM_004484.4(GPC3):c.811G>A (p.Val271Ile)
|
rs2071693313
|
0.00001
|
NM_004484.4(GPC3):c.865G>A (p.Val289Met)
|
rs1456458902
|
0.00001
|
NM_004484.4(GPC3):c.869T>G (p.Val290Gly)
|
rs1244073847
|
0.00001
|
NM_004484.4(GPC3):c.919G>C (p.Val307Leu)
|
rs780001214
|
0.00001
|
NM_004484.4(GPC3):c.959T>C (p.Leu320Pro)
|
rs759943578
|
0.00001
|
NM_004484.4(GPC3):c.967C>T (p.Leu323Phe)
|
rs1488891852
|
0.00001
|
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu)
|
rs786201404
|
0.00001
|
NM_005612.5(REST):c.1639G>T (p.Val547Leu)
|
rs754696564
|
0.00001
|
NM_016169.4(SUFU):c.*1145A>G
|
rs1190732664
|
0.00001
|
NM_016169.4(SUFU):c.*2278C>G
|
rs530131484
|
0.00001
|
NM_016169.4(SUFU):c.*2475C>T
|
rs886046661
|
0.00001
|
NM_016169.4(SUFU):c.*3045A>G
|
rs185874880
|
0.00001
|
NM_016169.4(SUFU):c.*305C>A
|
rs1430494184
|
0.00001
|
NM_016169.4(SUFU):c.*405G>A
|
rs2063829258
|
0.00001
|
NM_016169.4(SUFU):c.1003C>T (p.Leu335Phe)
|
rs757401093
|
0.00001
|
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)
|
rs773037813
|
0.00001
|
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)
|
rs369910221
|
0.00001
|
NM_016169.4(SUFU):c.1022+6T>C
|
rs1216584462
|
0.00001
|
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu)
|
rs587778699
|
0.00001
|
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)
|
rs751728820
|
0.00001
|
NM_016169.4(SUFU):c.1030A>C (p.Lys344Gln)
|
rs1590082116
|
0.00001
|
NM_016169.4(SUFU):c.1042G>C (p.Glu348Gln)
|
rs1447671524
|
0.00001
|
NM_016169.4(SUFU):c.1055C>A (p.Ser352Tyr)
|
rs1464341550
|
0.00001
|
NM_016169.4(SUFU):c.1073A>G (p.His358Arg)
|
rs1432365875
|
0.00001
|
NM_016169.4(SUFU):c.107C>T (p.Ala36Val)
|
rs566714720
|
0.00001
|
NM_016169.4(SUFU):c.1085G>A (p.Arg362His)
|
rs755390277
|
0.00001
|
NM_016169.4(SUFU):c.1088C>T (p.Thr363Met)
|
rs1554854578
|
0.00001
|
NM_016169.4(SUFU):c.1091G>A (p.Arg364Gln)
|
rs749802616
|
0.00001
|
NM_016169.4(SUFU):c.1150T>A (p.Cys384Ser)
|
rs375419295
|
0.00001
|
NM_016169.4(SUFU):c.1157G>A (p.Arg386Lys)
|
rs767814106
|
0.00001
|
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)
|
rs201326378
|
0.00001
|
NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr)
|
rs1554854758
|
0.00001
|
NM_016169.4(SUFU):c.124C>T (p.Arg42Cys)
|
rs2062292519
|
0.00001
|
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)
|
rs766370528
|
0.00001
|
NM_016169.4(SUFU):c.1326A>C (p.Lys442Asn)
|
rs1311816626
|
0.00001
|
NM_016169.4(SUFU):c.1329G>A (p.Met443Ile)
|
rs773805575
|
0.00001
|
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)
|
rs778125780
|
0.00001
|
NM_016169.4(SUFU):c.1388G>A (p.Ser463Asn)
|
rs147404195
|
0.00001
|
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp)
|
rs948353979
|
0.00001
|
NM_016169.4(SUFU):c.1429G>A (p.Val477Met)
|
rs1060501117
|
0.00001
|
NM_016169.4(SUFU):c.146C>T (p.Pro49Leu)
|
rs1479128337
|
0.00001
|
NM_016169.4(SUFU):c.166G>T (p.Ala56Ser)
|
rs200061483
|
0.00001
|
NM_016169.4(SUFU):c.178T>C (p.Tyr60His)
|
rs2062294197
|
0.00001
|
NM_016169.4(SUFU):c.180C>T (p.Tyr60=)
|
rs776945270
|
0.00001
|
NM_016169.4(SUFU):c.183-13T>G
|
rs749913059
|
0.00001
|
NM_016169.4(SUFU):c.217A>C (p.Met73Leu)
|
rs1183694060
|
0.00001
|
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys)
|
rs770989077
|
0.00001
|
NM_016169.4(SUFU):c.26C>A (p.Ala9Asp)
|
rs775491374
|
0.00001
|
NM_016169.4(SUFU):c.26C>T (p.Ala9Val)
|
rs775491374
|
0.00001
|
NM_016169.4(SUFU):c.296A>G (p.Tyr99Cys)
|
rs1464640869
|
0.00001
|
NM_016169.4(SUFU):c.304A>G (p.Asn102Asp)
|
rs1564657066
|
0.00001
|
NM_016169.4(SUFU):c.316G>A (p.Glu106Lys)
|
rs1040654062
|
0.00001
|
NM_016169.4(SUFU):c.318G>T (p.Glu106Asp)
|
rs1188593672
|
0.00001
|
NM_016169.4(SUFU):c.322A>G (p.Thr108Ala)
|
rs1425171528
|
0.00001
|
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg)
|
rs1171604398
|
0.00001
|
NM_016169.4(SUFU):c.368G>A (p.Arg123His)
|
rs745958724
|
0.00001
|
NM_016169.4(SUFU):c.38C>G (p.Thr13Ser)
|
rs768935165
|
0.00001
|
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser)
|
rs1590019047
|
0.00001
|
NM_016169.4(SUFU):c.437G>A (p.Arg146Gln)
|
rs764847917
|
0.00001
|
NM_016169.4(SUFU):c.529A>G (p.Met177Val)
|
rs758672583
|
0.00001
|
NM_016169.4(SUFU):c.53C>G (p.Pro18Arg)
|
rs1489443369
|
0.00001
|
NM_016169.4(SUFU):c.55G>A (p.Gly19Ser)
|
rs1207697890
|
0.00001
|
NM_016169.4(SUFU):c.562G>A (p.Val188Met)
|
rs1462013962
|
0.00001
|
NM_016169.4(SUFU):c.5C>T (p.Ala2Val)
|
rs1589969719
|
0.00001
|
NM_016169.4(SUFU):c.601G>A (p.Val201Ile)
|
rs147695965
|
0.00001
|
NM_016169.4(SUFU):c.602T>C (p.Val201Ala)
|
rs772840788
|
0.00001
|
NM_016169.4(SUFU):c.637C>G (p.Gln213Glu)
|
rs907135467
|
0.00001
|
NM_016169.4(SUFU):c.644A>G (p.Asn215Ser)
|
rs1178631893
|
0.00001
|
NM_016169.4(SUFU):c.64G>C (p.Ala22Pro)
|
rs1564654422
|
0.00001
|
NM_016169.4(SUFU):c.65C>G (p.Ala22Gly)
|
rs761240106
|
0.00001
|
NM_016169.4(SUFU):c.68C>T (p.Pro23Leu)
|
rs2062290972
|
0.00001
|
NM_016169.4(SUFU):c.691G>A (p.Gly231Ser)
|
rs1457485957
|
0.00001
|
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn)
|
rs544734275
|
0.00001
|
NM_016169.4(SUFU):c.742G>A (p.Asp248Asn)
|
rs1283509771
|
0.00001
|
NM_016169.4(SUFU):c.750C>A (p.His250Gln)
|
rs1235137905
|
0.00001
|
NM_016169.4(SUFU):c.756+10G>C
|
rs764838079
|
0.00001
|
NM_016169.4(SUFU):c.778G>A (p.Glu260Lys)
|
rs775245784
|
0.00001
|
NM_016169.4(SUFU):c.811G>T (p.Ala271Ser)
|
rs762258680
|
0.00001
|
NM_016169.4(SUFU):c.827A>G (p.Asp276Gly)
|
rs772598822
|
0.00001
|
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp)
|
rs761003435
|
0.00001
|
NM_016169.4(SUFU):c.842C>T (p.Pro281Leu)
|
rs752387760
|
0.00001
|
NM_016169.4(SUFU):c.845C>A (p.Pro282His)
|
rs2063472026
|
0.00001
|
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly)
|
rs763598499
|
0.00001
|
NM_016169.4(SUFU):c.856G>A (p.Glu286Lys)
|
rs564728455
|
0.00001
|
NM_016169.4(SUFU):c.872T>C (p.Ile291Thr)
|
rs587778698
|
0.00001
|
NM_016169.4(SUFU):c.904G>A (p.Gly302Ser)
|
rs1164574977
|
0.00001
|
NM_016169.4(SUFU):c.943G>A (p.Gly315Arg)
|
rs141737156
|
0.00001
|
NM_016169.4(SUFU):c.957C>G (p.Asn319Lys)
|
rs535845342
|
0.00001
|
NM_016169.4(SUFU):c.967G>A (p.Val323Ile)
|
rs1420089970
|
0.00001
|
NM_016169.4(SUFU):c.979A>G (p.Ile327Val)
|
rs752846043
|
0.00001
|
NM_016169.4(SUFU):c.98G>C (p.Gly33Ala)
|
rs1391787041
|
0.00001
|
NM_016169.4(SUFU):c.994C>G (p.Gln332Glu)
|
rs747125633
|
0.00001
|
NM_024426.6(WT1):c.*1066T>G
|
rs936717004
|
0.00001
|
NM_024426.6(WT1):c.*611C>T
|
rs886048220
|
0.00001
|
NM_024426.6(WT1):c.*614A>C
|
rs886048219
|
0.00001
|
NM_024426.6(WT1):c.1013G>A (p.Ser338Asn)
|
rs748112905
|
0.00001
|
NM_024426.6(WT1):c.1016+4A>C
|
rs776489080
|
0.00001
|
NM_024426.6(WT1):c.1033G>A (p.Glu345Lys)
|
rs547783372
|
0.00001
|
NM_024426.6(WT1):c.1069G>C (p.Ala357Pro)
|
rs1362066206
|
0.00001
|
NM_024426.6(WT1):c.1094G>A (p.Gly365Asp)
|
rs769934402
|
0.00001
|
NM_024426.6(WT1):c.109G>A (p.Gly37Arg)
|
rs1397886023
|
0.00001
|
NM_024426.6(WT1):c.1100T>G (p.Phe367Cys)
|
rs150194429
|
0.00001
|
NM_024426.6(WT1):c.1104A>T (p.Arg368Ser)
|
rs544966826
|
0.00001
|
NM_024426.6(WT1):c.1113+5G>A
|
rs930795675
|
0.00001
|
NM_024426.6(WT1):c.1114-7C>A
|
rs1396821797
|
0.00001
|
NM_024426.6(WT1):c.1117G>A (p.Val373Met)
|
rs747377024
|
0.00001
|
NM_024426.6(WT1):c.112G>C (p.Val38Leu)
|
rs1229949294
|
0.00001
|
NM_024426.6(WT1):c.1135G>A (p.Val379Ile)
|
rs755936509
|
0.00001
|
NM_024426.6(WT1):c.1153C>T (p.Arg385Trp)
|
rs765218093
|
0.00001
|
NM_024426.6(WT1):c.116G>A (p.Arg39Gln)
|
rs1590411426
|
0.00001
|
NM_024426.6(WT1):c.1198T>C (p.Tyr400His)
|
rs746353651
|
0.00001
|
NM_024426.6(WT1):c.1202C>T (p.Pro401Leu)
|
rs1060501258
|
0.00001
|
NM_024426.6(WT1):c.1210A>C (p.Asn404His)
|
rs774976881
|
0.00001
|
NM_024426.6(WT1):c.1211A>C (p.Asn404Thr)
|
rs748864758
|
0.00001
|
NM_024426.6(WT1):c.122C>T (p.Pro41Leu)
|
rs773550149
|
0.00001
|
NM_024426.6(WT1):c.1253G>T (p.Arg418Met)
|
rs373176048
|
0.00001
|
NM_024426.6(WT1):c.133T>C (p.Trp45Arg)
|
rs1186470250
|
0.00001
|
NM_024426.6(WT1):c.1385A>T (p.Gln462Leu)
|
rs533043871
|
0.00001
|
NM_024426.6(WT1):c.1469G>A (p.Arg490Gln)
|
rs139893274
|
0.00001
|
NM_024426.6(WT1):c.1477A>G (p.Ser493Gly)
|
rs776256676
|
0.00001
|
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg)
|
rs760370132
|
0.00001
|
NM_024426.6(WT1):c.149C>A (p.Ala50Asp)
|
rs967658170
|
0.00001
|
NM_024426.6(WT1):c.1513G>C (p.Val505Leu)
|
rs1399910889
|
0.00001
|
NM_024426.6(WT1):c.154G>A (p.Glu52Lys)
|
rs1212035248
|
0.00001
|
NM_024426.6(WT1):c.1555C>T (p.Gln519Ter)
|
rs866837692
|
0.00001
|
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro)
|
rs774228907
|
0.00001
|
NM_024426.6(WT1):c.1562C>T (p.Ala521Val)
|
rs749266841
|
0.00001
|
NM_024426.6(WT1):c.1568G>A (p.Ter523=)
|
rs148856160
|
0.00001
|
NM_024426.6(WT1):c.172C>G (p.Leu58Val)
|
rs1412425868
|
0.00001
|
NM_024426.6(WT1):c.200C>G (p.Ser67Cys)
|
rs1327516147
|
0.00001
|
NM_024426.6(WT1):c.202G>A (p.Gly68Arg)
|
rs1353446740
|
0.00001
|
NM_024426.6(WT1):c.211C>A (p.Pro71Thr)
|
rs1392405207
|
0.00001
|
NM_024426.6(WT1):c.223G>A (p.Gly75Ser)
|
rs528076586
|
0.00001
|
NM_024426.6(WT1):c.231C>A (p.Asp77Glu)
|
rs1193574882
|
0.00001
|
NM_024426.6(WT1):c.262G>A (p.Val88Ile)
|
rs1410971862
|
0.00001
|
NM_024426.6(WT1):c.26C>T (p.Pro9Leu)
|
rs948132360
|
0.00001
|
NM_024426.6(WT1):c.284G>T (p.Gly95Val)
|
rs1454795891
|
0.00001
|
NM_024426.6(WT1):c.286G>A (p.Gly96Ser)
|
rs1060501254
|
0.00001
|
NM_024426.6(WT1):c.304A>G (p.Ser102Gly)
|
rs1336319420
|
0.00001
|
NM_024426.6(WT1):c.311C>G (p.Ala104Gly)
|
rs1044394214
|
0.00001
|
NM_024426.6(WT1):c.326C>G (p.Pro109Arg)
|
rs1853459569
|
0.00001
|
NM_024426.6(WT1):c.32C>G (p.Ser11Cys)
|
rs1412950681
|
0.00001
|
NM_024426.6(WT1):c.341C>A (p.Ala114Glu)
|
rs1311557029
|
0.00001
|
NM_024426.6(WT1):c.34A>C (p.Thr12Pro)
|
rs764111950
|
0.00001
|
NM_024426.6(WT1):c.350G>A (p.Gly117Asp)
|
rs939385459
|
0.00001
|
NM_024426.6(WT1):c.352G>C (p.Ala118Pro)
|
rs1253163678
|
0.00001
|
NM_024426.6(WT1):c.355T>C (p.Ser119Pro)
|
rs1187111469
|
0.00001
|
NM_024426.6(WT1):c.380C>G (p.Pro127Arg)
|
rs1387576357
|
0.00001
|
NM_024426.6(WT1):c.386C>A (p.Pro129Gln)
|
rs745435848
|
0.00001
|
NM_024426.6(WT1):c.392C>G (p.Pro131Arg)
|
rs1443423967
|
0.00001
|
NM_024426.6(WT1):c.404C>T (p.Pro135Leu)
|
rs769642496
|
0.00001
|
NM_024426.6(WT1):c.412C>T (p.Pro138Ser)
|
rs544477985
|
0.00001
|
NM_024426.6(WT1):c.439C>G (p.Gln147Glu)
|
rs953087575
|
0.00001
|
NM_024426.6(WT1):c.440A>G (p.Gln147Arg)
|
rs764552529
|
0.00001
|
NM_024426.6(WT1):c.459C>T (p.Gly153=)
|
rs1309250331
|
0.00001
|
NM_024426.6(WT1):c.489C>A (p.Ser163Arg)
|
rs908414065
|
0.00001
|
NM_024426.6(WT1):c.499G>A (p.Val167Ile)
|
rs1474496518
|
0.00001
|
NM_024426.6(WT1):c.53C>T (p.Ala18Val)
|
rs1853481284
|
0.00001
|
NM_024426.6(WT1):c.566C>T (p.Pro189Leu)
|
rs745879965
|
0.00001
|
NM_024426.6(WT1):c.584C>G (p.Ser195Cys)
|
rs778194188
|
0.00001
|
NM_024426.6(WT1):c.595A>G (p.Arg199Gly)
|
rs1307678573
|
0.00001
|
NM_024426.6(WT1):c.620T>G (p.Leu207Arg)
|
rs1258754686
|
0.00001
|
NM_024426.6(WT1):c.627C>G (p.Ser209Arg)
|
rs761530541
|
0.00001
|
NM_024426.6(WT1):c.641A>C (p.Gln214Pro)
|
rs771024882
|
0.00001
|
NM_024426.6(WT1):c.646G>A (p.Ala216Thr)
|
rs778069787
|
0.00001
|
NM_024426.6(WT1):c.650T>G (p.Ile217Ser)
|
rs1853431800
|
0.00001
|
NM_024426.6(WT1):c.658C>A (p.Gln220Lys)
|
rs373935628
|
0.00001
|
NM_024426.6(WT1):c.662G>A (p.Gly221Asp)
|
rs369444006
|
0.00001
|
NM_024426.6(WT1):c.685G>A (p.Gly229Arg)
|
rs767419243
|
0.00001
|
NM_024426.6(WT1):c.691C>T (p.Pro231Ser)
|
rs766425764
|
0.00001
|
NM_024426.6(WT1):c.710C>T (p.Pro237Leu)
|
rs760776653
|
0.00001
|
NM_024426.6(WT1):c.71G>A (p.Arg24His)
|
rs1330792627
|
0.00001
|
NM_024426.6(WT1):c.724G>A (p.Ala242Thr)
|
rs1590395740
|
0.00001
|
NM_024426.6(WT1):c.761C>T (p.Pro254Leu)
|
rs1213160959
|
0.00001
|
NM_024426.6(WT1):c.763A>G (p.Met255Val)
|
rs142653301
|
0.00001
|
NM_024426.6(WT1):c.76G>A (p.Gly26Arg)
|
rs1189241211
|
0.00001
|
NM_024426.6(WT1):c.771G>T (p.Gln257His)
|
rs1853140764
|
0.00001
|
NM_024426.6(WT1):c.77G>A (p.Gly26Glu)
|
rs1484558172
|
0.00001
|
NM_024426.6(WT1):c.803T>G (p.Val268Gly)
|
rs765230888
|
0.00001
|
NM_024426.6(WT1):c.815T>C (p.Val272Ala)
|
rs1298646630
|
0.00001
|
NM_024426.6(WT1):c.832C>G (p.Pro278Ala)
|
rs773527284
|
0.00001
|
NM_024426.6(WT1):c.83G>A (p.Gly28Glu)
|
rs751641518
|
0.00001
|
NM_024426.6(WT1):c.850G>A (p.Gly284Ser)
|
rs1271732325
|
0.00001
|
NM_024426.6(WT1):c.86G>A (p.Cys29Tyr)
|
rs992227366
|
0.00001
|
NM_024426.6(WT1):c.887+19C>G
|
rs755113185
|
0.00001
|
NM_024426.6(WT1):c.973G>A (p.Ala325Thr)
|
rs1712081462
|
0.00001
|
NM_024426.6(WT1):c.977G>C (p.Gly326Ala)
|
rs766054482
|
0.00001
|
NM_024426.6(WT1):c.980G>A (p.Ser327Asn)
|
rs1308955642
|
0.00001
|
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)
|
rs863224783
|
0.00001
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
NM_144997.7(FLCN):c.284A>G (p.Tyr95Cys)
|
rs1555610947
|
0.00001
|
NM_177438.3(DICER1):c.3229G>A (p.Asp1077Asn)
|
rs373412959
|
0.00001
|
NM_177438.3(DICER1):c.4675A>G (p.Ile1559Val)
|
rs377409989
|
0.00001
|
NM_177438.3(DICER1):c.920G>A (p.Arg307His)
|
rs149718671
|
0.00001
|
NM_177438.3(DICER1):c.925G>A (p.Val309Ile)
|
rs1181141404
|
0.00001
|
NC_000002.11:g.(?_29119585)_(29420552_?)dup
|
|
|
NC_000002.11:g.(?_29119585)_(29450548_?)dup
|
|
|
NC_000002.11:g.(?_29119585)_(30143525_?)dup
|
|
|
NC_000002.11:g.(?_29416084)_(29754988_?)dup
|
|
|
NC_000002.11:g.(?_29416090)_(29416798_?)del
|
|
|
NC_000002.11:g.(?_29416090)_(29430148_?)del
|
|
|
NC_000002.11:g.(?_29416090)_(29474143_?)dup
|
|
|
NC_000002.11:g.(?_29416090)_(29551357_?)del
|
|
|
NC_000002.11:g.(?_29416090)_(29606735_?)dup
|
|
|
NC_000002.11:g.(?_29416090)_(30143525_?)dup
|
|
|
NC_000002.11:g.(?_29419616)_(29420562_?)del
|
|
|
NC_000002.11:g.(?_29419626)_(29419736_?)del
|
|
|
NC_000002.11:g.(?_29430027)_(29754992_?)dup
|
|
|
NC_000002.11:g.(?_29436891)_(29440263_?)del
|
|
|
NC_000002.11:g.(?_29443562)_(29448441_?)del
|
|
|
NC_000002.11:g.(?_29450430)_(29450548_?)del
|
|
|
NC_000002.11:g.(?_29455160)_(29456572_?)del
|
|
|
NC_000002.11:g.(?_29462536)_(29462706_?)del
|
|
|
NC_000002.11:g.(?_29473961)_(29474143_?)del
|
|
|
NC_000002.11:g.(?_29497955)_(29606735_?)dup
|
|
|
NC_000002.11:g.(?_29519734)_(29606745_?)dup
|
|
|
NC_000002.11:g.(?_29519744)_(29519933_?)del
|
|
|
NC_000002.11:g.(?_29541150)_(29541290_?)dup
|
|
|
NC_000002.11:g.(?_29541160)_(29551357_?)del
|
|
|
NC_000002.11:g.(?_29541160)_(29606735_?)dup
|
|
|
NC_000002.11:g.(?_29551196)_(29940583_?)dup
|
|
|
NC_000002.11:g.(?_29551206)_(29551357_?)del
|
|
|
NC_000002.11:g.(?_29606588)_(29940573_?)del
|
|
|
NC_000002.11:g.(?_29754761)_(29755002_?)dup
|
|
|
NC_000002.11:g.(?_29754771)_(29754992_?)del
|
|
|
NC_000002.11:g.(?_29754771)_(29754992_?)dup
|
|
|
NC_000002.11:g.(?_29754771)_(30143525_?)dup
|
|
|
NC_000002.11:g.(?_29917706)_(29940573_?)del
|
|
|
NC_000002.11:g.(?_29917706)_(29940573_?)dup
|
|
|
NC_000002.11:g.(?_30142849)_(30143525_?)del
|
|
|
NC_000002.11:g.(?_30142849)_(30143535_?)dup
|
|
|
NC_000002.11:g.(?_30142853)_(30143531_?)dup
|
|
|
NC_000002.11:g.(?_30143165)_(30144434_?)del
|
|
|
NC_000002.12:g.(?_29193218)_(29239836_?)dup
|
|
|
NC_000002.12:g.(?_29193224)_(29193932_?)dup
|
|
|
NC_000002.12:g.(?_29196760)_(29717707_?)del
|
|
|
NC_000002.12:g.(?_29222334)_(29275506_?)del
|
|
|
NC_000002.12:g.(?_29717568)_(29717707_?)del
|
|
|
NC_000002.12:g.(?_29919983)_(29920659_?)dup
|
|
|
NC_000002.12:g.29207270_29207273del
|
rs1669336181
|
|
NC_000002.12:g.29695015del
|
|
|
NC_000010.10:g.(?_104262628)_(104309873_?)dup
|
|
|
NC_000010.10:g.(?_104262628)_(104595248_?)dup
|
|
|
NC_000010.10:g.(?_104263910)_(104269080_?)dup
|
|
|
NC_000010.10:g.(?_104268906)_(104269080_?)del
|
|
|
NC_000010.10:g.(?_104375015)_(104389912_?)del
|
|
|
NC_000010.10:g.(?_104375015)_(104392580_?)dup
|
|
|
NC_000011.10:g.(?_32416480)_(32417664_?)del
|
|
|
NC_000011.9:g.(?_32410594)_(32421600_?)dup
|
|
|
NC_000011.9:g.(?_32410601)_(32414311_?)dup
|
|
|
NC_000011.9:g.(?_32410604)_(32410745_?)dup
|
|
|
NC_000011.9:g.(?_32438026)_(32438096_?)del
|
|
|
NC_000011.9:g.(?_32456236)_(32460464_?)dup
|
|
|
NC_000013.11:g.32396899_32396902delinsTAAG
|
rs1566260060
|
|
NC_000019.10:g.(?_10984142)_(11061826_?)dup
|
|
|
NC_000019.10:g.(?_10986179)_(11061826_?)dup
|
|
|
NC_000019.10:g.(?_11007892)_(11061826_?)dup
|
|
|
NC_000019.10:g.(?_11039458)_(11039553_?)del
|
|
|
NC_000019.10:g.(?_11041297)_(11061826_?)del
|
|
|
NC_000019.9:g.(?_11094818)_(11107066_?)dup
|
|
|
NC_000019.9:g.(?_11094828)_(11100129_?)dup
|
|
|
NC_000019.9:g.(?_11094828)_(11135124_?)dup
|
|
|
NC_000019.9:g.(?_11094828)_(11137032_?)dup
|
|
|
NC_000019.9:g.(?_11094828)_(11152246_?)dup
|
|
|
NC_000019.9:g.(?_11094828)_(11373116_?)dup
|
|
|
NC_000019.9:g.(?_11105494)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11106879)_(11107230_?)del
|
|
|
NC_000019.9:g.(?_11106879)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11106879)_(11172502_?)dup
|
|
|
NC_000019.9:g.(?_11113695)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11118568)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11121047)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11129613)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11134174)_(11144896_?)dup
|
|
|
NC_000019.9:g.(?_11136088)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11138450)_(11172492_?)dup
|
|
|
NC_000019.9:g.(?_11150114)_(11150249_?)del
|
|
|
NC_000019.9:g.(?_11168921)_(11172492_?)del
|
|
|
NC_000019.9:g.(?_11168925)_(11172498_?)dup
|
|
|
NC_000019.9:g.(?_11172454)_(11172498_?)dup
|
|
|
NC_000022.10:g.(?_24133937)_(24176373_?)dup
|
|
|
NC_000022.10:g.(?_24143125)_(24176373_?)dup
|
|
|
NC_000022.10:g.24171601-(24180196_?)
|
|
|
NC_000023.10:g.(?_132670146)_(133119482_?)dup
|
|
|
NC_000023.10:g.(?_132670152)_(132826532_?)dup
|
|
|
NC_000023.10:g.(?_132670152)_(132888213_?)dup
|
|
|
NC_000023.10:g.(?_132670152)_(132888223_?)dup
|
|
|
NC_000023.10:g.(?_132670152)_(133119476_?)dup
|
|
|
NC_000023.10:g.(?_132730458)_(133119476_?)dup
|
|
|
NC_000023.10:g.(?_132795748)_(132834066_?)del
|
|
|
NC_000023.10:g.(?_132795748)_(133119476_?)dup
|
|
|
NC_000023.10:g.(?_133087067)_(133119486_?)dup
|
|
|
NC_000023.10:g.(?_133119292)_(133119476_?)dup
|
|
|
NC_000023.11:g.(?_133536124)_(133536303_?)dup
|
|
|
NC_000023.11:g.(?_133953040)_(133985449_?)dup
|
|
|
NM_000038.6(APC):c.3747C>A (p.Cys1249Ter)
|
rs2149898263
|
|
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)
|
rs150503164
|
|
NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)
|
rs587782016
|
|
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)
|
rs431825280
|
|
NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)
|
rs547590567
|
|
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)
|
rs398122725
|
|
NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)
|
rs431825282
|
|
NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)
|
rs1249900164
|
|
NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)
|
rs1555282154
|
|
NM_000059.4(BRCA2):c.2141A>C (p.Glu714Ala)
|
rs2137483648
|
|
NM_000059.4(BRCA2):c.2143G>T (p.Gly715Ter)
|
rs1007336407
|
|
NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)
|
rs397507282
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)
|
rs1555282574
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)
|
rs80358512
|
|
NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)
|
rs80358526
|
|
NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)
|
rs1566227648
|
|
NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)
|
rs876658938
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)
|
rs1403318277
|
|
NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)
|
rs1555283763
|
|
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)
|
rs397507336
|
|
NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)
|
rs876659201
|
|
NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)
|
rs397507349
|
|
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)
|
rs431825334
|
|
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)
|
rs80358833
|
|
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)
|
rs80358854
|
|
NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)
|
rs1060502462
|
|
NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)
|
rs587782174
|
|
NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)
|
rs80358907
|
|
NM_000059.4(BRCA2):c.6902A>G (p.Glu2301Gly)
|
rs2137537213
|
|
NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)
|
rs1555286026
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)
|
rs80358989
|
|
NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)
|
rs764761862
|
|
NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)
|
rs876660874
|
|
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)
|
rs1466452770
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)
|
rs143999963
|
|
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)
|
rs397507414
|
|
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2])
|
rs786202063
|
|
NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)
|
rs587781493
|
|
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup)
|
rs80359749
|
|
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)
|
rs80359186
|
|
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)
|
rs80359195
|
|
NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)
|
rs1555289516
|
|
NM_000059.4(BRCA2):c.9946G>A (p.Glu3316Lys)
|
rs758051959
|
|
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)
|
rs1216426444
|
|
NM_000135.4(FANCA):c.4261-2A>C
|
rs915983602
|
|
NM_000137.4(FAH):c.506C>T (p.Ser169Phe)
|
rs2142097943
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
NM_000368.5(TSC1):c.2488C>G (p.Gln830Glu)
|
rs1564475884
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
NM_001005498.4(RHBDF2):c.269G>A (p.Arg90His)
|
rs368409953
|
|
NM_001048174.2(MUTYH):c.572C>T (p.Thr191Ile)
|
rs2149150096
|
|
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)
|
rs374295965
|
|
NM_001128849.1(SMARCA4):c.1524_1525inv (p.Ala509Thr)
|
|
|
NM_001128849.1(SMARCA4):c.2010_2012delGGA
|
rs759896283
|
|
NM_001365951.3(KIF1B):c.*1224C>T
|
rs998980655
|
|
NM_001365951.3(KIF1B):c.*1363dup
|
rs567435289
|
|
NM_001365951.3(KIF1B):c.*187T>G
|
rs1638901228
|
|
NM_001365951.3(KIF1B):c.*1999G>T
|
rs886044998
|
|
NM_001365951.3(KIF1B):c.*249CA[13]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[14]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[17]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[18]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*249CA[19]
|
rs111663673
|
|
NM_001365951.3(KIF1B):c.*2687G>A
|
rs886045001
|
|
NM_001365951.3(KIF1B):c.*2798C>T
|
rs369817908
|
|
NM_001365951.3(KIF1B):c.*281_*282dup
|
rs886044986
|
|
NM_001365951.3(KIF1B):c.*281_*286del
|
rs886044990
|
|
NM_001365951.3(KIF1B):c.*2978dup
|
rs145348144
|
|
NM_001365951.3(KIF1B):c.*305C>T
|
rs886044992
|
|
NM_001365951.3(KIF1B):c.*3202C>A
|
rs886045008
|
|
NM_001365951.3(KIF1B):c.*3618C>G
|
rs1638986532
|
|
NM_001365951.3(KIF1B):c.*3958A>G
|
rs886045010
|
|
NM_001365951.3(KIF1B):c.*4296T>C
|
rs886045013
|
|
NM_001365951.3(KIF1B):c.*454CT[1]
|
rs886044993
|
|
NM_001365951.3(KIF1B):c.*4613G>A
|
rs886045014
|
|
NM_001365951.3(KIF1B):c.*4648T>C
|
rs1639015374
|
|
NM_001365951.3(KIF1B):c.*4664_*4665insG
|
rs571589510
|
|
NM_001365951.3(KIF1B):c.*4742C>A
|
rs775958997
|
|
NM_001365951.3(KIF1B):c.*858C>G
|
rs1638918750
|
|
NM_001365951.3(KIF1B):c.-79-4A>G
|
rs886044965
|
|
NM_001365951.3(KIF1B):c.-80+13G>A
|
rs1646683776
|
|
NM_001365951.3(KIF1B):c.-97G>A
|
rs1646683353
|
|
NM_001365951.3(KIF1B):c.1177G>A (p.Asp393Asn)
|
rs377570278
|
|
NM_001365951.3(KIF1B):c.1306A>G (p.Met436Val)
|
rs759751032
|
|
NM_001365951.3(KIF1B):c.1360T>C (p.Leu454=)
|
rs886044977
|
|
NM_001365951.3(KIF1B):c.1941T>C (p.Thr647=)
|
rs1650298363
|
|
NM_001365951.3(KIF1B):c.3141G>A (p.Ser1047=)
|
rs754121148
|
|
NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr)
|
rs1230762716
|
|
NM_001365951.3(KIF1B):c.3654A>G (p.Arg1218=)
|
rs868389032
|
|
NM_001365951.3(KIF1B):c.3740T>C (p.Met1247Thr)
|
rs1326880304
|
|
NM_001365951.3(KIF1B):c.3835C>T (p.Pro1279Ser)
|
rs886044985
|
|
NM_001365951.3(KIF1B):c.4131T>C (p.Tyr1377=)
|
rs1638407540
|
|
NM_001365951.3(KIF1B):c.608+7T>C
|
rs886044967
|
|
NM_001365951.3(KIF1B):c.706C>G (p.Leu236Val)
|
rs1648580372
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
NM_001365951.3(KIF1B):c.883-15C>T
|
rs1397719362
|
|
NM_001370259.2(MEN1):c.262G>T (p.Ala88Ser)
|
rs1565651916
|
|
NM_001375883.1(GPR161):c.1231T>C (p.Tyr411His)
|
|
|
NM_001375883.1(GPR161):c.1235C>T (p.Thr412Met)
|
|
|
NM_001375883.1(GPR161):c.1445A>C (p.Glu482Ala)
|
|
|
NM_001375883.1(GPR161):c.1502del (p.Gly501fs)
|
rs766670512
|
|
NM_001375883.1(GPR161):c.152C>A (p.Thr51Asn)
|
|
|
NM_001375883.1(GPR161):c.505G>A (p.Val169Met)
|
|
|
NM_001375883.1(GPR161):c.682G>T (p.Val228Phe)
|
|
|
NM_001375883.1(GPR161):c.713G>C (p.Gly238Ala)
|
|
|
NM_001387283.1(SMARCA4):c.4172A>G (p.Lys1391Arg)
|
rs2146775051
|
|
NM_001387283.1(SMARCA4):c.4177A>G (p.Thr1393Ala)
|
rs1600445175
|
|
NM_001387283.1(SMARCA4):c.4180G>C (p.Gly1394Arg)
|
|
|
NM_001387283.1(SMARCA4):c.4180_4181delinsC (p.Gly1394fs)
|
rs1555787120
|
|
NM_001387283.1(SMARCA4):c.4182A>T (p.Gly1394=)
|
|
|
NM_001387283.1(SMARCA4):c.4183A>G (p.Lys1395Glu)
|
rs2146775283
|
|
NM_001387283.1(SMARCA4):c.4186G>T (p.Asp1396Tyr)
|
rs1555787123
|
|
NM_001387283.1(SMARCA4):c.4189_4190del (p.Ile1397fs)
|
|
|
NM_001387283.1(SMARCA4):c.4190T>C (p.Ile1397Thr)
|
rs534766933
|
|
NM_001387283.1(SMARCA4):c.4192C>T (p.His1398Tyr)
|
|
|
NM_001387283.1(SMARCA4):c.4196A>G (p.Asp1399Gly)
|
|
|
NM_001387283.1(SMARCA4):c.4201G>A (p.Ala1401Thr)
|
|
|
NM_001387283.1(SMARCA4):c.4208G>A (p.Ser1403Asn)
|
|
|
NM_001387283.1(SMARCA4):c.4208del (p.Ser1403fs)
|
rs1060502088
|
|
NM_001387283.1(SMARCA4):c.4210G>A (p.Val1404Met)
|
|
|
NM_001387283.1(SMARCA4):c.4219G>A (p.Gly1407Arg)
|
|
|
NM_001387283.1(SMARCA4):c.4219G>T (p.Gly1407Trp)
|
rs751103947
|
|
NM_001387283.1(SMARCA4):c.4223T>C (p.Leu1408Pro)
|
rs2146776508
|
|
NM_001387283.1(SMARCA4):c.4228T>A (p.Phe1410Ile)
|
|
|
NM_001387283.1(SMARCA4):c.4232A>G (p.Gln1411Arg)
|
|
|
NM_001387283.1(SMARCA4):c.4233G>C (p.Gln1411His)
|
rs780721689
|
|
NM_001387283.1(SMARCA4):c.4237G>A (p.Gly1413Ser)
|
|
|
NM_001387283.1(SMARCA4):c.4240C>G (p.Leu1414Val)
|
rs746165832
|
|
NM_001387283.1(SMARCA4):c.4243C>T (p.Gln1415Ter)
|
rs2075456626
|
|
NM_001387283.1(SMARCA4):c.4244A>G (p.Gln1415Arg)
|
rs1427210237
|
|
NM_001387283.1(SMARCA4):c.4245G>C (p.Gln1415His)
|
rs1600446366
|
|
NM_001387283.1(SMARCA4):c.4246T>C (p.Phe1416Leu)
|
rs1600446408
|
|
NM_001387283.1(SMARCA4):c.4250G>A (p.Cys1417Tyr)
|
rs772645133
|
|
NM_001387283.1(SMARCA4):c.4253C>T (p.Thr1418Ile)
|
rs1060502100
|
|
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys)
|
rs1056234449
|
|
NM_001387283.1(SMARCA4):c.4256del (p.Arg1419fs)
|
rs2146777667
|
|
NM_001387283.1(SMARCA4):c.4258G>A (p.Ala1420Thr)
|
|
|
NM_001387283.1(SMARCA4):c.4258G>C (p.Ala1420Pro)
|
|
|
NM_001387283.1(SMARCA4):c.4259C>G (p.Ala1420Gly)
|
rs200525458
|
|
NM_001387283.1(SMARCA4):c.4259C>T (p.Ala1420Val)
|
rs200525458
|
|
NM_001387283.1(SMARCA4):c.4261T>A (p.Ser1421Thr)
|
rs776681345
|
|
NM_001387283.1(SMARCA4):c.4261T>C (p.Ser1421Pro)
|
rs776681345
|
|
NM_001387283.1(SMARCA4):c.4265A>C (p.Lys1422Thr)
|
rs1060502061
|
|
NM_001387283.1(SMARCA4):c.4265A>G (p.Lys1422Arg)
|
rs1060502061
|
|
NM_001387283.1(SMARCA4):c.4266+1G>C
|
rs1060502086
|
|
NM_001387283.1(SMARCA4):c.4266+1G>T
|
rs1060502086
|
|
NM_001387283.1(SMARCA4):c.4266+1del
|
rs2075460114
|
|
NM_001387283.1(SMARCA4):c.4266+2T>A
|
|
|
NM_001387283.1(SMARCA4):c.4266+2_4266+3del
|
rs1568523387
|
|
NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)
|
rs1376864427
|
|
NM_002907.4(RECQL):c.572C>A (p.Pro191Gln)
|
rs2137374485
|
|
NM_003072.5(SMARCA4):c.*6_*32dup (p.Ter1648=)
|
rs1555797492
|
|
NM_003072.5(SMARCA4):c.-32+34C>T
|
rs1351249230
|
|
NM_003072.5(SMARCA4):c.1000G>T (p.Gly334Trp)
|
rs1364450672
|
|
NM_003072.5(SMARCA4):c.1003C>A (p.Gln335Lys)
|
rs374054124
|
|
NM_003072.5(SMARCA4):c.1007C>A (p.Pro336Gln)
|
|
|
NM_003072.5(SMARCA4):c.1014G>C (p.Gln338His)
|
rs2086195287
|
|
NM_003072.5(SMARCA4):c.1016C>T (p.Pro339Leu)
|
rs554354092
|
|
NM_003072.5(SMARCA4):c.1018G>T (p.Ala340Ser)
|
rs371214327
|
|
NM_003072.5(SMARCA4):c.101C>T (p.Pro34Leu)
|
|
|
NM_003072.5(SMARCA4):c.1022C>T (p.Pro341Leu)
|
rs2086196449
|
|
NM_003072.5(SMARCA4):c.1027G>C (p.Val343Leu)
|
rs1599970530
|
|
NM_003072.5(SMARCA4):c.1027G>T (p.Val343Leu)
|
rs1599970530
|
|
NM_003072.5(SMARCA4):c.1028T>C (p.Val343Ala)
|
rs1568427296
|
|
NM_003072.5(SMARCA4):c.1030C>A (p.Pro344Thr)
|
rs771509538
|
|
NM_003072.5(SMARCA4):c.1031C>G (p.Pro344Arg)
|
|
|
NM_003072.5(SMARCA4):c.1033C>A (p.Leu345Met)
|
rs888226264
|
|
NM_003072.5(SMARCA4):c.1034T>C (p.Leu345Pro)
|
rs1599970814
|
|
NM_003072.5(SMARCA4):c.1034T>G (p.Leu345Arg)
|
rs1599970814
|
|
NM_003072.5(SMARCA4):c.1035_1036delinsAA (p.His346Asn)
|
|
|
NM_003072.5(SMARCA4):c.1036C>T (p.His346Tyr)
|
|
|
NM_003072.5(SMARCA4):c.1041G>T (p.Gln347His)
|
rs773687860
|
|
NM_003072.5(SMARCA4):c.1045C>G (p.Gln349Glu)
|
rs1060502092
|
|
NM_003072.5(SMARCA4):c.1048A>G (p.Ser350Gly)
|
|
|
NM_003072.5(SMARCA4):c.1052G>T (p.Arg351Leu)
|
rs1018881303
|
|
NM_003072.5(SMARCA4):c.1054A>T (p.Ile352Phe)
|
|
|
NM_003072.5(SMARCA4):c.1055T>A (p.Ile352Asn)
|
rs1568427448
|
|
NM_003072.5(SMARCA4):c.1055T>G (p.Ile352Ser)
|
rs1568427448
|
|
NM_003072.5(SMARCA4):c.1058C>T (p.Thr353Ile)
|
rs2145820918
|
|
NM_003072.5(SMARCA4):c.1060C>G (p.Pro354Ala)
|
|
|
NM_003072.5(SMARCA4):c.1060C>T (p.Pro354Ser)
|
rs864622680
|
|
NM_003072.5(SMARCA4):c.1061C>A (p.Pro354His)
|
rs1599971262
|
|
NM_003072.5(SMARCA4):c.1061C>T (p.Pro354Leu)
|
|
|
NM_003072.5(SMARCA4):c.1064T>A (p.Ile355Asn)
|
|
|
NM_003072.5(SMARCA4):c.1065C>G (p.Ile355Met)
|
rs1342901943
|
|
NM_003072.5(SMARCA4):c.1067A>G (p.Gln356Arg)
|
rs2086201417
|
|
NM_003072.5(SMARCA4):c.106C>T (p.Pro36Ser)
|
rs1555750794
|
|
NM_003072.5(SMARCA4):c.1078G>A (p.Gly360Ser)
|
|
|
NM_003072.5(SMARCA4):c.1079G>A (p.Gly360Asp)
|
rs1555755289
|
|
NM_003072.5(SMARCA4):c.1079G>T (p.Gly360Val)
|
|
|
NM_003072.5(SMARCA4):c.1081C>A (p.Leu361Ile)
|
rs1222895303
|
|
NM_003072.5(SMARCA4):c.1081C>T (p.Leu361Phe)
|
|
|
NM_003072.5(SMARCA4):c.1084G>C (p.Asp362His)
|
|
|
NM_003072.5(SMARCA4):c.1086C>A (p.Asp362Glu)
|
rs1599971944
|
|
NM_003072.5(SMARCA4):c.1088C>T (p.Pro363Leu)
|
rs1568427632
|
|
NM_003072.5(SMARCA4):c.1093G>A (p.Glu365Lys)
|
|
|
NM_003072.5(SMARCA4):c.1093G>C (p.Glu365Gln)
|
|
|
NM_003072.5(SMARCA4):c.1094A>G (p.Glu365Gly)
|
rs2145822167
|
|
NM_003072.5(SMARCA4):c.1095G>C (p.Glu365Asp)
|
rs2145822205
|
|
NM_003072.5(SMARCA4):c.1096A>T (p.Ile366Phe)
|
|
|
NM_003072.5(SMARCA4):c.1097T>C (p.Ile366Thr)
|
rs2145822279
|
|
NM_003072.5(SMARCA4):c.1099C>G (p.Leu367Val)
|
rs372379166
|
|
NM_003072.5(SMARCA4):c.109G>A (p.Gly37Ser)
|
rs2085812988
|
|
NM_003072.5(SMARCA4):c.10C>G (p.Pro4Ala)
|
rs2085801503
|
|
NM_003072.5(SMARCA4):c.10C>T (p.Pro4Ser)
|
rs2085801503
|
|
NM_003072.5(SMARCA4):c.1108C>T (p.Arg370Cys)
|
rs1436490540
|
|
NM_003072.5(SMARCA4):c.1109G>A (p.Arg370His)
|
rs878854197
|
|
NM_003072.5(SMARCA4):c.110G>A (p.Gly37Asp)
|
rs2085813185
|
|
NM_003072.5(SMARCA4):c.1111G>A (p.Glu371Lys)
|
rs1599972601
|
|
NM_003072.5(SMARCA4):c.1114T>A (p.Tyr372Asn)
|
|
|
NM_003072.5(SMARCA4):c.1117A>G (p.Arg373Gly)
|
rs1555755346
|
|
NM_003072.5(SMARCA4):c.1118+1G>A
|
|
|
NM_003072.5(SMARCA4):c.1118+3G>T
|
rs1568427837
|
|
NM_003072.5(SMARCA4):c.1118+4A>T
|
rs2086207488
|
|
NM_003072.5(SMARCA4):c.1118+5G>A
|
rs1351206812
|
|
NM_003072.5(SMARCA4):c.1118+6G>A
|
rs1471938505
|
|
NM_003072.5(SMARCA4):c.1119-5C>G
|
rs1555756257
|
|
NM_003072.5(SMARCA4):c.1120C>G (p.Leu374Val)
|
|
|
NM_003072.5(SMARCA4):c.1124A>G (p.Gln375Arg)
|
rs2145846611
|
|
NM_003072.5(SMARCA4):c.1127C>T (p.Ala376Val)
|
rs2086347503
|
|
NM_003072.5(SMARCA4):c.1129C>T (p.Arg377Cys)
|
|
|
NM_003072.5(SMARCA4):c.112T>C (p.Ser38Pro)
|
rs1599929325
|
|
NM_003072.5(SMARCA4):c.1130G>A (p.Arg377His)
|
rs1555756272
|
|
NM_003072.5(SMARCA4):c.1130G>T (p.Arg377Leu)
|
rs1555756272
|
|
NM_003072.5(SMARCA4):c.1132A>G (p.Ile378Val)
|
rs540717794
|
|
NM_003072.5(SMARCA4):c.1133T>C (p.Ile378Thr)
|
rs1599995171
|
|
NM_003072.5(SMARCA4):c.1135G>C (p.Ala379Pro)
|
|
|
NM_003072.5(SMARCA4):c.1135G>T (p.Ala379Ser)
|
rs769660597
|
|
NM_003072.5(SMARCA4):c.1138C>T (p.His380Tyr)
|
|
|
NM_003072.5(SMARCA4):c.113C>T (p.Ser38Phe)
|
|
|
NM_003072.5(SMARCA4):c.1142G>A (p.Arg381Gln)
|
rs749059769
|
|
NM_003072.5(SMARCA4):c.115G>T (p.Ala39Ser)
|
rs764312409
|
|
NM_003072.5(SMARCA4):c.1163T>C (p.Leu388Pro)
|
rs1555756337
|
|
NM_003072.5(SMARCA4):c.1168G>A (p.Gly390Arg)
|
rs1568430508
|
|
NM_003072.5(SMARCA4):c.116C>T (p.Ala39Val)
|
rs2145723731
|
|
NM_003072.5(SMARCA4):c.1175T>A (p.Leu392Gln)
|
|
|
NM_003072.5(SMARCA4):c.1180G>A (p.Gly394Arg)
|
rs1046318786
|
|
NM_003072.5(SMARCA4):c.1180G>C (p.Gly394Arg)
|
|
|
NM_003072.5(SMARCA4):c.1184A>G (p.Asp395Gly)
|
rs2086352477
|
|
NM_003072.5(SMARCA4):c.1187T>G (p.Leu396Trp)
|
rs2145848630
|
|
NM_003072.5(SMARCA4):c.1189C>G (p.Arg397Gly)
|
|
|
NM_003072.5(SMARCA4):c.118C>T (p.His40Tyr)
|
rs2145723792
|
|
NM_003072.5(SMARCA4):c.1195A>G (p.Lys399Glu)
|
rs2145848866
|
|
NM_003072.5(SMARCA4):c.1196A>G (p.Lys399Arg)
|
|
|
NM_003072.5(SMARCA4):c.1196A>T (p.Lys399Ile)
|
rs1364132635
|
|
NM_003072.5(SMARCA4):c.1198G>T (p.Ala400Ser)
|
|
|
NM_003072.5(SMARCA4):c.119A>G (p.His40Arg)
|
rs1178566757
|
|
NM_003072.5(SMARCA4):c.1205T>C (p.Ile402Thr)
|
rs1599996370
|
|
NM_003072.5(SMARCA4):c.1207G>A (p.Glu403Lys)
|
rs1555756388
|
|
NM_003072.5(SMARCA4):c.1208A>G (p.Glu403Gly)
|
|
|
NM_003072.5(SMARCA4):c.120C>G (p.His40Gln)
|
rs375884151
|
|
NM_003072.5(SMARCA4):c.1210C>T (p.Leu404Phe)
|
|
|
NM_003072.5(SMARCA4):c.1214A>G (p.Lys405Arg)
|
|
|
NM_003072.5(SMARCA4):c.1217C>T (p.Ala406Val)
|
|
|
NM_003072.5(SMARCA4):c.1219C>T (p.Leu407Phe)
|
rs1060502078
|
|
NM_003072.5(SMARCA4):c.121A>G (p.Ser41Gly)
|
rs1555750818
|
|
NM_003072.5(SMARCA4):c.1222A>G (p.Arg408Gly)
|
rs2086355525
|
|
NM_003072.5(SMARCA4):c.1223G>A (p.Arg408Lys)
|
rs2145849759
|
|
NM_003072.5(SMARCA4):c.1225C>A (p.Leu409Met)
|
rs2145849845
|
|
NM_003072.5(SMARCA4):c.122G>T (p.Ser41Ile)
|
|
|
NM_003072.5(SMARCA4):c.1234T>C (p.Phe412Leu)
|
|
|
NM_003072.5(SMARCA4):c.1236C>G (p.Phe412Leu)
|
|
|
NM_003072.5(SMARCA4):c.1245+3G>A
|
rs2145850436
|
|
NM_003072.5(SMARCA4):c.1245+4G>A
|
rs2145850485
|
|
NM_003072.5(SMARCA4):c.1245+5G>C
|
rs2145850551
|
|
NM_003072.5(SMARCA4):c.1245+6delinsAATCTGGAAA
|
|
|
NM_003072.5(SMARCA4):c.1245G>A (p.Gln415=)
|
rs2145850376
|
|
NM_003072.5(SMARCA4):c.1245G>C (p.Gln415His)
|
|
|
NM_003072.5(SMARCA4):c.1246-3C>T
|
|
|
NM_003072.5(SMARCA4):c.1246-6C>G
|
|
|
NM_003072.5(SMARCA4):c.1247T>G (p.Leu416Arg)
|
rs2086525774
|
|
NM_003072.5(SMARCA4):c.1249C>T (p.Arg417Cys)
|
rs2086525936
|
|
NM_003072.5(SMARCA4):c.124A>C (p.Met42Leu)
|
rs1060502081
|
|
NM_003072.5(SMARCA4):c.124A>G (p.Met42Val)
|
rs1060502081
|
|
NM_003072.5(SMARCA4):c.124A>T (p.Met42Leu)
|
|
|
NM_003072.5(SMARCA4):c.1250G>A (p.Arg417His)
|
rs2086526099
|
|
NM_003072.5(SMARCA4):c.1250G>T (p.Arg417Leu)
|
|
|
NM_003072.5(SMARCA4):c.1253A>G (p.Gln418Arg)
|
|
|
NM_003072.5(SMARCA4):c.1255G>C (p.Glu419Gln)
|
rs1600022414
|
|
NM_003072.5(SMARCA4):c.1257G>T (p.Glu419Asp)
|
|
|
NM_003072.5(SMARCA4):c.125T>C (p.Met42Thr)
|
rs1046243225
|
|
NM_003072.5(SMARCA4):c.1261G>C (p.Val421Leu)
|
|
|
NM_003072.5(SMARCA4):c.1264G>A (p.Val422Met)
|
rs1555757536
|
|
NM_003072.5(SMARCA4):c.126G>C (p.Met42Ile)
|
rs765325777
|
|
NM_003072.5(SMARCA4):c.126G>T (p.Met42Ile)
|
rs765325777
|
|
NM_003072.5(SMARCA4):c.1270A>C (p.Met424Leu)
|
rs1555757541
|
|
NM_003072.5(SMARCA4):c.1273C>T (p.Arg425Trp)
|
rs2145878488
|
|
NM_003072.5(SMARCA4):c.1279G>A (p.Asp427Asn)
|
rs2086528184
|
|
NM_003072.5(SMARCA4):c.1279G>T (p.Asp427Tyr)
|
|
|
NM_003072.5(SMARCA4):c.127A>G (p.Met43Val)
|
rs375812959
|
|
NM_003072.5(SMARCA4):c.127A>T (p.Met43Leu)
|
rs375812959
|
|
NM_003072.5(SMARCA4):c.1282A>G (p.Thr428Ala)
|
rs2145878787
|
|
NM_003072.5(SMARCA4):c.1283C>A (p.Thr428Lys)
|
rs2086528346
|
|
NM_003072.5(SMARCA4):c.1285G>A (p.Ala429Thr)
|
|
|
NM_003072.5(SMARCA4):c.1291G>A (p.Glu431Lys)
|
rs1792421235
|
|
NM_003072.5(SMARCA4):c.1292A>G (p.Glu431Gly)
|
rs2145879071
|
|
NM_003072.5(SMARCA4):c.1295C>T (p.Thr432Ile)
|
rs2086529449
|
|
NM_003072.5(SMARCA4):c.129G>A (p.Met43Ile)
|
rs1599929580
|
|
NM_003072.5(SMARCA4):c.1300C>G (p.Leu434Val)
|
rs2145879278
|
|
NM_003072.5(SMARCA4):c.1304A>G (p.Asn435Ser)
|
rs1555757591
|
|
NM_003072.5(SMARCA4):c.1306G>A (p.Ala436Thr)
|
rs2086530559
|
|
NM_003072.5(SMARCA4):c.1307C>A (p.Ala436Asp)
|
rs1600023098
|
|
NM_003072.5(SMARCA4):c.1312G>A (p.Ala438Thr)
|
|
|
NM_003072.5(SMARCA4):c.1316A>T (p.Tyr439Phe)
|
|
|
NM_003072.5(SMARCA4):c.1319A>G (p.Lys440Arg)
|
rs2145879866
|
|
NM_003072.5(SMARCA4):c.1321C>A (p.Arg441Ser)
|
rs1600023226
|
|
NM_003072.5(SMARCA4):c.1321C>T (p.Arg441Cys)
|
rs1600023226
|
|
NM_003072.5(SMARCA4):c.1324A>C (p.Ser442Arg)
|
rs1600023338
|
|
NM_003072.5(SMARCA4):c.1331G>C (p.Arg444Pro)
|
|
|
NM_003072.5(SMARCA4):c.1334A>G (p.Gln445Arg)
|
rs2086532633
|
|
NM_003072.5(SMARCA4):c.1335G>C (p.Gln445His)
|
rs1461859748
|
|
NM_003072.5(SMARCA4):c.1342C>T (p.Arg448Cys)
|
rs2086533643
|
|
NM_003072.5(SMARCA4):c.1343G>A (p.Arg448His)
|
rs1060502063
|
|
NM_003072.5(SMARCA4):c.1348G>T (p.Ala450Ser)
|
rs1204677224
|
|
NM_003072.5(SMARCA4):c.1349C>T (p.Ala450Val)
|
rs1555757651
|
|
NM_003072.5(SMARCA4):c.134C>A (p.Pro45His)
|
rs367601832
|
|
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)
|
rs2086534839
|
|
NM_003072.5(SMARCA4):c.1352G>A (p.Arg451His)
|
|
|
NM_003072.5(SMARCA4):c.1354A>G (p.Ile452Val)
|
rs2086535406
|
|
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)
|
rs1057518862
|
|
NM_003072.5(SMARCA4):c.1364A>G (p.Lys455Arg)
|
rs2086536067
|
|
NM_003072.5(SMARCA4):c.1381A>C (p.Lys461Gln)
|
rs757516325
|
|
NM_003072.5(SMARCA4):c.1382A>G (p.Lys461Arg)
|
rs1568434007
|
|
NM_003072.5(SMARCA4):c.1384A>G (p.Ile462Val)
|
rs2086537587
|
|
NM_003072.5(SMARCA4):c.1386C>G (p.Ile462Met)
|
rs1265247876
|
|
NM_003072.5(SMARCA4):c.1387G>A (p.Glu463Lys)
|
|
|
NM_003072.5(SMARCA4):c.1398C>T (p.Arg466=)
|
rs2086538912
|
|
NM_003072.5(SMARCA4):c.1400A>G (p.Lys467Arg)
|
rs758203117
|
|
NM_003072.5(SMARCA4):c.1402C>T (p.Arg468Cys)
|
rs2145882413
|
|
NM_003072.5(SMARCA4):c.1405C>T (p.Arg469Trp)
|
rs1060502079
|
|
NM_003072.5(SMARCA4):c.1406G>A (p.Arg469Gln)
|
rs2145882558
|
|
NM_003072.5(SMARCA4):c.1409A>T (p.Gln470Leu)
|
|
|
NM_003072.5(SMARCA4):c.1416C>G (p.His472Gln)
|
rs2086540721
|
|
NM_003072.5(SMARCA4):c.1417C>G (p.Gln473Glu)
|
|
|
NM_003072.5(SMARCA4):c.1419+3A>G
|
rs2086541272
|
|
NM_003072.5(SMARCA4):c.1419+5dup
|
|
|
NM_003072.5(SMARCA4):c.1419+6C>G
|
rs1366466358
|
|
NM_003072.5(SMARCA4):c.1419G>A (p.Gln473=)
|
rs2086540879
|
|
NM_003072.5(SMARCA4):c.1420-3C>G
|
rs777295398
|
|
NM_003072.5(SMARCA4):c.1420-6C>A
|
rs878854200
|
|
NM_003072.5(SMARCA4):c.1422A>C (p.Glu474Asp)
|
rs2086879917
|
|
NM_003072.5(SMARCA4):c.1426C>T (p.Leu476Phe)
|
rs1600067548
|
|
NM_003072.5(SMARCA4):c.142G>C (p.Gly48Arg)
|
rs2085816935
|
|
NM_003072.5(SMARCA4):c.1432A>T (p.Ser478Cys)
|
rs1555761983
|
|
NM_003072.5(SMARCA4):c.1434C>A (p.Ser478Arg)
|
|
|
NM_003072.5(SMARCA4):c.1448C>T (p.Ala483Val)
|
|
|
NM_003072.5(SMARCA4):c.1451A>G (p.Lys484Arg)
|
|
|
NM_003072.5(SMARCA4):c.1458C>G (p.Phe486Leu)
|
rs1555762001
|
|
NM_003072.5(SMARCA4):c.1460A>G (p.Lys487Arg)
|
rs2086882004
|
|
NM_003072.5(SMARCA4):c.146C>T (p.Pro49Leu)
|
rs1464033862
|
|
NM_003072.5(SMARCA4):c.1475C>G (p.Ser492Cys)
|
rs2145938942
|
|
NM_003072.5(SMARCA4):c.1481C>T (p.Thr494Ile)
|
rs1060502098
|
|
NM_003072.5(SMARCA4):c.1483G>A (p.Gly495Ser)
|
rs1060502093
|
|
NM_003072.5(SMARCA4):c.1483G>T (p.Gly495Cys)
|
rs1060502093
|
|
NM_003072.5(SMARCA4):c.1487A>G (p.Lys496Arg)
|
|
|
NM_003072.5(SMARCA4):c.1488A>T (p.Lys496Asn)
|
|
|
NM_003072.5(SMARCA4):c.148C>T (p.Pro50Ser)
|
|
|
NM_003072.5(SMARCA4):c.1507G>A (p.Ala503Thr)
|
|
|
NM_003072.5(SMARCA4):c.1513G>A (p.Ala505Thr)
|
rs1555762079
|
|
NM_003072.5(SMARCA4):c.1514C>G (p.Ala505Gly)
|
rs1600068130
|
|
NM_003072.5(SMARCA4):c.1514C>T (p.Ala505Val)
|
|
|
NM_003072.5(SMARCA4):c.1523_1524delinsGC (p.His508Arg)
|
rs2145940710
|
|
NM_003072.5(SMARCA4):c.1526C>T (p.Ala509Val)
|
rs1600068270
|
|
NM_003072.5(SMARCA4):c.1529A>G (p.Asn510Ser)
|
rs2086886078
|
|
NM_003072.5(SMARCA4):c.152C>T (p.Ser51Leu)
|
|
|
NM_003072.5(SMARCA4):c.152CAG[1] (p.Ala52del)
|
|
|
NM_003072.5(SMARCA4):c.1532C>T (p.Thr511Met)
|
|
|
NM_003072.5(SMARCA4):c.1535A>T (p.Glu512Val)
|
|
|
NM_003072.5(SMARCA4):c.1537C>T (p.Arg513Trp)
|
rs1207620630
|
|
NM_003072.5(SMARCA4):c.154G>A (p.Ala52Thr)
|
rs1060502103
|
|
NM_003072.5(SMARCA4):c.1550A>G (p.Lys517Arg)
|
rs2086887157
|
|
NM_003072.5(SMARCA4):c.155C>T (p.Ala52Val)
|
|
|
NM_003072.5(SMARCA4):c.1561C>T (p.Arg521Trp)
|
rs2145942104
|
|
NM_003072.5(SMARCA4):c.1562G>A (p.Arg521Gln)
|
rs990869140
|
|
NM_003072.5(SMARCA4):c.1564A>G (p.Ile522Val)
|
rs1568440731
|
|
NM_003072.5(SMARCA4):c.1579A>C (p.Met527Leu)
|
rs2145942762
|
|
NM_003072.5(SMARCA4):c.1583G>A (p.Arg528Gln)
|
rs1555762188
|
|
NM_003072.5(SMARCA4):c.1593+3A>G
|
rs1555762222
|
|
NM_003072.5(SMARCA4):c.1593+3A>T
|
rs1555762222
|
|
NM_003072.5(SMARCA4):c.1593+4T>C
|
rs1060502072
|
|
NM_003072.5(SMARCA4):c.1593+6G>A
|
rs2145943465
|
|
NM_003072.5(SMARCA4):c.1594-3T>C
|
rs1600081783
|
|
NM_003072.5(SMARCA4):c.1594-5T>G
|
rs1223041498
|
|
NM_003072.5(SMARCA4):c.1608G>C (p.Glu536Asp)
|
|
|
NM_003072.5(SMARCA4):c.1615C>T (p.Arg539Cys)
|
|
|
NM_003072.5(SMARCA4):c.1616G>T (p.Arg539Leu)
|
rs1600081861
|
|
NM_003072.5(SMARCA4):c.1619A>G (p.Lys540Arg)
|
rs778357380
|
|
NM_003072.5(SMARCA4):c.161A>G (p.His54Arg)
|
rs1348866967
|
|
NM_003072.5(SMARCA4):c.1620G>T (p.Lys540Asn)
|
|
|
NM_003072.5(SMARCA4):c.1624A>G (p.Ile542Val)
|
rs2145969738
|
|
NM_003072.5(SMARCA4):c.162C>A (p.His54Gln)
|
rs1330092211
|
|
NM_003072.5(SMARCA4):c.163C>G (p.Pro55Ala)
|
rs1218848193
|
|
NM_003072.5(SMARCA4):c.164C>T (p.Pro55Leu)
|
rs747185602
|
|
NM_003072.5(SMARCA4):c.1651G>A (p.Ala551Thr)
|
|
|
NM_003072.5(SMARCA4):c.1651G>T (p.Ala551Ser)
|
rs2087031286
|
|
NM_003072.5(SMARCA4):c.1655A>G (p.Tyr552Cys)
|
rs2087031445
|
|
NM_003072.5(SMARCA4):c.1665G>T (p.Gln555His)
|
|
|
NM_003072.5(SMARCA4):c.1666C>G (p.Gln556Glu)
|
rs1555763642
|
|
NM_003072.5(SMARCA4):c.166A>G (p.Ile56Val)
|
rs2085819103
|
|
NM_003072.5(SMARCA4):c.1678T>C (p.Tyr560His)
|
|
|
NM_003072.5(SMARCA4):c.1693A>G (p.Thr565Ala)
|
rs765974121
|
|
NM_003072.5(SMARCA4):c.1694C>T (p.Thr565Met)
|
rs1600082359
|
|
NM_003072.5(SMARCA4):c.1696G>C (p.Glu566Gln)
|
|
|
NM_003072.5(SMARCA4):c.1699C>A (p.Leu567Met)
|
|
|
NM_003072.5(SMARCA4):c.1702G>A (p.Val568Met)
|
rs1431755388
|
|
NM_003072.5(SMARCA4):c.1705C>T (p.Arg569Trp)
|
rs141090393
|
|
NM_003072.5(SMARCA4):c.170C>A (p.Pro57His)
|
|
|
NM_003072.5(SMARCA4):c.170C>G (p.Pro57Arg)
|
rs1568417458
|
|
NM_003072.5(SMARCA4):c.170C>T (p.Pro57Leu)
|
rs1568417458
|
|
NM_003072.5(SMARCA4):c.1725G>C (p.Gln575His)
|
rs1441370371
|
|
NM_003072.5(SMARCA4):c.1725G>T (p.Gln575His)
|
rs1441370371
|
|
NM_003072.5(SMARCA4):c.1726G>T (p.Val576Phe)
|
rs1555763737
|
|
NM_003072.5(SMARCA4):c.1729G>A (p.Ala577Thr)
|
rs1369374541
|
|
NM_003072.5(SMARCA4):c.1729G>T (p.Ala577Ser)
|
rs1369374541
|
|
NM_003072.5(SMARCA4):c.1733A>G (p.Lys578Arg)
|
rs2145973682
|
|
NM_003072.5(SMARCA4):c.1735G>A (p.Glu579Lys)
|
rs2145973734
|
|
NM_003072.5(SMARCA4):c.1739A>T (p.Lys580Ile)
|
|
|
NM_003072.5(SMARCA4):c.173C>T (p.Thr58Ile)
|
rs1555750978
|
|
NM_003072.5(SMARCA4):c.1743GAA[1] (p.Lys588del)
|
rs747503505
|
|
NM_003072.5(SMARCA4):c.1748A>C (p.Lys583Thr)
|
rs1043517699
|
|
NM_003072.5(SMARCA4):c.1749AAAGAA[1] (p.Lys587_Lys588del)
|
rs1600082918
|
|
NM_003072.5(SMARCA4):c.1749AAAGAA[3] (p.Lys587_Lys588dup)
|
rs1600082918
|
|
NM_003072.5(SMARCA4):c.1751A>G (p.Lys584Arg)
|
rs2087041246
|
|
NM_003072.5(SMARCA4):c.1753A>G (p.Lys585Glu)
|
rs2087041445
|
|
NM_003072.5(SMARCA4):c.1756A>C (p.Lys586Gln)
|
rs2145974399
|
|
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del)
|
rs1429065030
|
|
NM_003072.5(SMARCA4):c.1759A>G (p.Lys587Glu)
|
|
|
NM_003072.5(SMARCA4):c.1761+3G>A
|
rs2087043325
|
|
NM_003072.5(SMARCA4):c.1761+5G>A
|
rs1555763822
|
|
NM_003072.5(SMARCA4):c.1761G>A (p.Lys587=)
|
|
|
NM_003072.5(SMARCA4):c.1762-10C>G
|
rs754221543
|
|
NM_003072.5(SMARCA4):c.1762-1G>A
|
rs2145980126
|
|
NM_003072.5(SMARCA4):c.1762-3C>T
|
|
|
NM_003072.5(SMARCA4):c.1762A>G (p.Lys588Glu)
|
|
|
NM_003072.5(SMARCA4):c.1763A>C (p.Lys588Thr)
|
|
|
NM_003072.5(SMARCA4):c.1765G>T (p.Ala589Ser)
|
rs765850087
|
|
NM_003072.5(SMARCA4):c.1766C>T (p.Ala589Val)
|
rs1555763943
|
|
NM_003072.5(SMARCA4):c.1772A>G (p.Asn591Ser)
|
|
|
NM_003072.5(SMARCA4):c.1775C>G (p.Ala592Gly)
|
rs1060502064
|
|
NM_003072.5(SMARCA4):c.1775C>T (p.Ala592Val)
|
rs1060502064
|
|
NM_003072.5(SMARCA4):c.1777G>A (p.Glu593Lys)
|
rs1555763975
|
|
NM_003072.5(SMARCA4):c.1777G>C (p.Glu593Gln)
|
|
|
NM_003072.5(SMARCA4):c.1778_1780del (p.Glu593del)
|
rs1484395538
|
|
NM_003072.5(SMARCA4):c.177G>A (p.Gln59=)
|
rs868608270
|
|
NM_003072.5(SMARCA4):c.1780G>A (p.Gly594Arg)
|
rs2145980749
|
|
NM_003072.5(SMARCA4):c.1784A>G (p.Gln595Arg)
|
|
|
NM_003072.5(SMARCA4):c.1784A>T (p.Gln595Leu)
|
rs2087065585
|
|
NM_003072.5(SMARCA4):c.1787C>A (p.Thr596Lys)
|
rs779952581
|
|
NM_003072.5(SMARCA4):c.1789C>A (p.Pro597Thr)
|
|
|
NM_003072.5(SMARCA4):c.1789C>G (p.Pro597Ala)
|
rs1060502097
|
|
NM_003072.5(SMARCA4):c.1789C>T (p.Pro597Ser)
|
rs1060502097
|
|
NM_003072.5(SMARCA4):c.1792G>A (p.Ala598Thr)
|
|
|
NM_003072.5(SMARCA4):c.1799G>A (p.Gly600Glu)
|
rs2145981386
|
|
NM_003072.5(SMARCA4):c.179G>T (p.Gly60Val)
|
|
|
NM_003072.5(SMARCA4):c.17C>A (p.Pro6Gln)
|
rs750113056
|
|
NM_003072.5(SMARCA4):c.1802C>T (p.Pro601Leu)
|
rs777544121
|
|
NM_003072.5(SMARCA4):c.1804G>A (p.Asp602Asn)
|
rs2087068449
|
|
NM_003072.5(SMARCA4):c.1805A>T (p.Asp602Val)
|
rs2087068642
|
|
NM_003072.5(SMARCA4):c.1812+2dup
|
rs2087069139
|
|
NM_003072.5(SMARCA4):c.1813-6_1813-4del
|
rs1864896196
|
|
NM_003072.5(SMARCA4):c.1813C>T (p.Pro605Ser)
|
rs1373012344
|
|
NM_003072.5(SMARCA4):c.1816C>G (p.Leu606Val)
|
rs1600132404
|
|
NM_003072.5(SMARCA4):c.1818G>A (p.Leu606=)
|
rs2146094508
|
|
NM_003072.5(SMARCA4):c.181C>T (p.Pro61Ser)
|
rs1555751015
|
|
NM_003072.5(SMARCA4):c.1820A>T (p.Asp607Val)
|
rs1600132436
|
|
NM_003072.5(SMARCA4):c.1822G>A (p.Glu608Lys)
|
rs2087806416
|
|
NM_003072.5(SMARCA4):c.182C>T (p.Pro61Leu)
|
rs2085820972
|
|
NM_003072.5(SMARCA4):c.1832A>T (p.Gln611Leu)
|
rs1600132569
|
|
NM_003072.5(SMARCA4):c.1836G>A (p.Met612Ile)
|
rs1600132619
|
|
NM_003072.5(SMARCA4):c.1856T>C (p.Val619Ala)
|
rs2087809409
|
|
NM_003072.5(SMARCA4):c.1860C>G (p.Ile620Met)
|
rs141751028
|
|
NM_003072.5(SMARCA4):c.1861C>G (p.His621Asp)
|
rs2087809994
|
|
NM_003072.5(SMARCA4):c.1875G>T (p.Gly625=)
|
rs2087810760
|
|
NM_003072.5(SMARCA4):c.1877A>G (p.Lys626Arg)
|
rs2146096765
|
|
NM_003072.5(SMARCA4):c.1880T>C (p.Ile627Thr)
|
rs2087810954
|
|
NM_003072.5(SMARCA4):c.1881C>G (p.Ile627Met)
|
rs1451914629
|
|
NM_003072.5(SMARCA4):c.1882C>A (p.Leu628Ile)
|
rs1555768351
|
|
NM_003072.5(SMARCA4):c.1882C>T (p.Leu628Phe)
|
rs1555768351
|
|
NM_003072.5(SMARCA4):c.1885A>G (p.Thr629Ala)
|
rs2087811842
|
|
NM_003072.5(SMARCA4):c.1886C>A (p.Thr629Lys)
|
|
|
NM_003072.5(SMARCA4):c.1886C>G (p.Thr629Arg)
|
|
|
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile)
|
rs1555768365
|
|
NM_003072.5(SMARCA4):c.1894G>A (p.Asp632Asn)
|
|
|
NM_003072.5(SMARCA4):c.1896T>A (p.Asp632Glu)
|
|
|
NM_003072.5(SMARCA4):c.1896T>G (p.Asp632Glu)
|
rs1060502055
|
|
NM_003072.5(SMARCA4):c.1897G>A (p.Ala633Thr)
|
rs1555768376
|
|
NM_003072.5(SMARCA4):c.1897G>T (p.Ala633Ser)
|
rs1555768376
|
|
NM_003072.5(SMARCA4):c.1897_1898delinsAT (p.Ala633Ile)
|
rs1600133041
|
|
NM_003072.5(SMARCA4):c.1904A>G (p.Lys635Arg)
|
rs1600133088
|
|
NM_003072.5(SMARCA4):c.1906G>C (p.Ala636Pro)
|
rs1600133106
|
|
NM_003072.5(SMARCA4):c.1908C>A (p.Ala636=)
|
rs548456029
|
|
NM_003072.5(SMARCA4):c.1909G>T (p.Gly637Trp)
|
rs917552239
|
|
NM_003072.5(SMARCA4):c.1914G>T (p.Gln638His)
|
rs1555768426
|
|
NM_003072.5(SMARCA4):c.191A>G (p.Tyr64Cys)
|
rs1599930186
|
|
NM_003072.5(SMARCA4):c.191A>T (p.Tyr64Phe)
|
rs1599930186
|
|
NM_003072.5(SMARCA4):c.1920G>T (p.Glu640Asp)
|
|
|
NM_003072.5(SMARCA4):c.1921G>A (p.Ala641Thr)
|
rs2146098679
|
|
NM_003072.5(SMARCA4):c.1933A>G (p.Met645Val)
|
rs763375817
|
|
NM_003072.5(SMARCA4):c.1934T>G (p.Met645Arg)
|
rs2087816849
|
|
NM_003072.5(SMARCA4):c.193C>G (p.Pro65Ala)
|
|
|
NM_003072.5(SMARCA4):c.1943+3G>A
|
|
|
NM_003072.5(SMARCA4):c.1943+3G>C
|
rs1600133534
|
|
NM_003072.5(SMARCA4):c.1943G>C (p.Gly648Ala)
|
|
|
NM_003072.5(SMARCA4):c.1944-12C>A
|
rs149763341
|
|
NM_003072.5(SMARCA4):c.1946A>T (p.Tyr649Phe)
|
rs2146108000
|
|
NM_003072.5(SMARCA4):c.194C>T (p.Pro65Leu)
|
rs1568417564
|
|
NM_003072.5(SMARCA4):c.1964C>T (p.Ser655Phe)
|
rs1555768701
|
|
NM_003072.5(SMARCA4):c.1969A>G (p.Ser657Gly)
|
rs1600135788
|
|
NM_003072.5(SMARCA4):c.1976A>G (p.Glu659Gly)
|
|
|
NM_003072.5(SMARCA4):c.1977A>C (p.Glu659Asp)
|
|
|
NM_003072.5(SMARCA4):c.1978A>C (p.Ser660Arg)
|
rs2087846584
|
|
NM_003072.5(SMARCA4):c.1979G>C (p.Ser660Thr)
|
rs1600135848
|
|
NM_003072.5(SMARCA4):c.1981G>A (p.Gly661Ser)
|
|
|
NM_003072.5(SMARCA4):c.1982G>T (p.Gly661Val)
|
rs367689657
|
|
NM_003072.5(SMARCA4):c.1985C>T (p.Ser662Leu)
|
rs1060502104
|
|
NM_003072.5(SMARCA4):c.1986AGA[2] (p.Glu672del)
|
|
|
NM_003072.5(SMARCA4):c.1988A>G (p.Glu663Gly)
|
rs2146109504
|
|
NM_003072.5(SMARCA4):c.1994A>C (p.Glu665Ala)
|
rs754483795
|
|
NM_003072.5(SMARCA4):c.1994A>G (p.Glu665Gly)
|
|
|
NM_003072.5(SMARCA4):c.199G>A (p.Asp67Asn)
|
rs2085821918
|
|
NM_003072.5(SMARCA4):c.19C>G (p.Pro7Ala)
|
|
|
NM_003072.5(SMARCA4):c.2001+4A>G
|
rs1343722342
|
|
NM_003072.5(SMARCA4):c.2001+6A>G
|
|
|
NM_003072.5(SMARCA4):c.2001+6_2001+7del
|
rs2087849684
|
|
NM_003072.5(SMARCA4):c.2001G>A (p.Glu667=)
|
rs1600136048
|
|
NM_003072.5(SMARCA4):c.2001G>C (p.Glu667Asp)
|
|
|
NM_003072.5(SMARCA4):c.2002G>A (p.Glu668Lys)
|
rs1060502105
|
|
NM_003072.5(SMARCA4):c.2002G>C (p.Glu668Gln)
|
rs1060502105
|
|
NM_003072.5(SMARCA4):c.2006A>G (p.Glu669Gly)
|
|
|
NM_003072.5(SMARCA4):c.2006A>T (p.Glu669Val)
|
rs1600167346
|
|
NM_003072.5(SMARCA4):c.2008G>C (p.Glu670Gln)
|
rs1222324445
|
|
NM_003072.5(SMARCA4):c.2014G>A (p.Glu672Lys)
|
rs2088394203
|
|
NM_003072.5(SMARCA4):c.2015A>T (p.Glu672Val)
|
rs1600167444
|
|
NM_003072.5(SMARCA4):c.2016G>C (p.Glu672Asp)
|
rs772356536
|
|
NM_003072.5(SMARCA4):c.2017C>G (p.Gln673Glu)
|
|
|
NM_003072.5(SMARCA4):c.2023C>G (p.Gln675Glu)
|
rs2146190601
|
|
NM_003072.5(SMARCA4):c.2024A>T (p.Gln675Leu)
|
rs1299276425
|
|
NM_003072.5(SMARCA4):c.2026G>A (p.Ala676Thr)
|
rs2146190685
|
|
NM_003072.5(SMARCA4):c.2027C>T (p.Ala676Val)
|
|
|
NM_003072.5(SMARCA4):c.2029G>A (p.Ala677Thr)
|
rs2088396631
|
|
NM_003072.5(SMARCA4):c.2030C>G (p.Ala677Gly)
|
|
|
NM_003072.5(SMARCA4):c.2033A>T (p.Gln678Leu)
|
|
|
NM_003072.5(SMARCA4):c.2035C>G (p.Pro679Ala)
|
rs770115402
|
|
NM_003072.5(SMARCA4):c.2036C>G (p.Pro679Arg)
|
rs1555771583
|
|
NM_003072.5(SMARCA4):c.2036C>T (p.Pro679Leu)
|
rs1555771583
|
|
NM_003072.5(SMARCA4):c.2039C>A (p.Pro680His)
|
|
|
NM_003072.5(SMARCA4):c.2039C>T (p.Pro680Leu)
|
rs1600167712
|
|
NM_003072.5(SMARCA4):c.203A>G (p.Asn68Ser)
|
rs2145726484
|
|
NM_003072.5(SMARCA4):c.2042C>T (p.Thr681Ile)
|
rs2088398438
|
|
NM_003072.5(SMARCA4):c.2044C>A (p.Leu682Met)
|
rs773252889
|
|
NM_003072.5(SMARCA4):c.2048C>G (p.Pro683Arg)
|
rs878854203
|
|
NM_003072.5(SMARCA4):c.2048C>T (p.Pro683Leu)
|
rs878854203
|
|
NM_003072.5(SMARCA4):c.2051T>C (p.Val684Ala)
|
rs979444190
|
|
NM_003072.5(SMARCA4):c.2053GAG[1] (p.Glu686del)
|
|
|
NM_003072.5(SMARCA4):c.2056G>A (p.Glu686Lys)
|
rs1555771625
|
|
NM_003072.5(SMARCA4):c.2057A>G (p.Glu686Gly)
|
rs924158571
|
|
NM_003072.5(SMARCA4):c.2057AGA[3] (p.Lys689del)
|
rs765524239
|
|
NM_003072.5(SMARCA4):c.2059A>G (p.Lys687Glu)
|
rs751565055
|
|
NM_003072.5(SMARCA4):c.2061G>T (p.Lys687Asn)
|
|
|
NM_003072.5(SMARCA4):c.2069T>C (p.Ile690Thr)
|
|
|
NM_003072.5(SMARCA4):c.2071C>T (p.Pro691Ser)
|
|
|
NM_003072.5(SMARCA4):c.2072C>T (p.Pro691Leu)
|
rs2146192320
|
|
NM_003072.5(SMARCA4):c.2078C>G (p.Pro693Arg)
|
rs2088404188
|
|
NM_003072.5(SMARCA4):c.207G>A (p.Met69Ile)
|
rs754815286
|
|
NM_003072.5(SMARCA4):c.207G>T (p.Met69Ile)
|
rs754815286
|
|
NM_003072.5(SMARCA4):c.2082C>G (p.Asp694Glu)
|
rs373420556
|
|
NM_003072.5(SMARCA4):c.2083A>G (p.Ser695Gly)
|
rs2088404711
|
|
NM_003072.5(SMARCA4):c.2084G>A (p.Ser695Asn)
|
rs755519197
|
|
NM_003072.5(SMARCA4):c.2088T>A (p.Asp696Glu)
|
rs1600168312
|
|
NM_003072.5(SMARCA4):c.208C>G (p.His70Asp)
|
rs1266506498
|
|
NM_003072.5(SMARCA4):c.2092G>A (p.Val698Ile)
|
rs1600168349
|
|
NM_003072.5(SMARCA4):c.2096C>G (p.Ser699Cys)
|
rs2088406134
|
|
NM_003072.5(SMARCA4):c.209A>C (p.His70Pro)
|
rs1568417600
|
|
NM_003072.5(SMARCA4):c.20C>A (p.Pro7His)
|
rs1568416569
|
|
NM_003072.5(SMARCA4):c.20C>G (p.Pro7Arg)
|
rs1568416569
|
|
NM_003072.5(SMARCA4):c.2102T>G (p.Val701Gly)
|
rs1307425251
|
|
NM_003072.5(SMARCA4):c.2104G>T (p.Asp702Tyr)
|
|
|
NM_003072.5(SMARCA4):c.2107G>A (p.Ala703Thr)
|
rs1555771662
|
|
NM_003072.5(SMARCA4):c.2107G>T (p.Ala703Ser)
|
rs1555771662
|
|
NM_003072.5(SMARCA4):c.2108C>T (p.Ala703Val)
|
rs550731833
|
|
NM_003072.5(SMARCA4):c.210C>A (p.His70Gln)
|
rs1599930337
|
|
NM_003072.5(SMARCA4):c.2111G>A (p.Arg704Gln)
|
rs1248744047
|
|
NM_003072.5(SMARCA4):c.2119_2121del (p.Ile707del)
|
rs1555771687
|
|
NM_003072.5(SMARCA4):c.2120T>C (p.Ile707Thr)
|
|
|
NM_003072.5(SMARCA4):c.2124-3C>T
|
rs1555773222
|
|
NM_003072.5(SMARCA4):c.212A>G (p.Gln71Arg)
|
|
|
NM_003072.5(SMARCA4):c.212_214dup (p.Gln71_Met72insLys)
|
rs1555751056
|
|
NM_003072.5(SMARCA4):c.2132A>G (p.Lys711Arg)
|
rs1555773235
|
|
NM_003072.5(SMARCA4):c.2132A>T (p.Lys711Met)
|
rs1555773235
|
|
NM_003072.5(SMARCA4):c.213G>C (p.Gln71His)
|
rs1489673789
|
|
NM_003072.5(SMARCA4):c.2140G>A (p.Val714Ile)
|
rs2088711962
|
|
NM_003072.5(SMARCA4):c.2155G>A (p.Gly719Ser)
|
|
|
NM_003072.5(SMARCA4):c.2155G>C (p.Gly719Arg)
|
rs2088712670
|
|
NM_003072.5(SMARCA4):c.2156G>C (p.Gly719Ala)
|
|
|
NM_003072.5(SMARCA4):c.2158G>A (p.Val720Met)
|
rs1555773256
|
|
NM_003072.5(SMARCA4):c.2162_2163delinsGT (p.Ser721Cys)
|
|
|
NM_003072.5(SMARCA4):c.2165A>G (p.Gln722Arg)
|
|
|
NM_003072.5(SMARCA4):c.216G>A (p.Met72Ile)
|
rs1568417674
|
|
NM_003072.5(SMARCA4):c.2170C>G (p.Leu724Val)
|
rs2088715054
|
|
NM_003072.5(SMARCA4):c.2173G>C (p.Ala725Pro)
|
rs2146235353
|
|
NM_003072.5(SMARCA4):c.2187G>T (p.Gln729His)
|
rs2146236007
|
|
NM_003072.5(SMARCA4):c.218A>T (p.His73Leu)
|
rs748147246
|
|
NM_003072.5(SMARCA4):c.2212G>T (p.Val738Phe)
|
rs370273427
|
|
NM_003072.5(SMARCA4):c.2215A>G (p.Thr739Ala)
|
rs2146237158
|
|
NM_003072.5(SMARCA4):c.2216C>G (p.Thr739Ser)
|
rs2088718305
|
|
NM_003072.5(SMARCA4):c.2216C>T (p.Thr739Ile)
|
|
|
NM_003072.5(SMARCA4):c.222+3A>G
|
rs2145727267
|
|
NM_003072.5(SMARCA4):c.222+5G>A
|
rs1555751086
|
|
NM_003072.5(SMARCA4):c.222+5G>C
|
rs1555751086
|
|
NM_003072.5(SMARCA4):c.222+6G>T
|
rs769669992
|
|
NM_003072.5(SMARCA4):c.222+6del
|
|
|
NM_003072.5(SMARCA4):c.2221A>G (p.Arg741Gly)
|
rs1555773339
|
|
NM_003072.5(SMARCA4):c.2227G>A (p.Asp743Asn)
|
rs2146237488
|
|
NM_003072.5(SMARCA4):c.2230A>G (p.Lys744Glu)
|
rs771723542
|
|
NM_003072.5(SMARCA4):c.2232G>C (p.Lys744Asn)
|
rs886054153
|
|
NM_003072.5(SMARCA4):c.2242C>T (p.Leu748Phe)
|
rs2088720910
|
|
NM_003072.5(SMARCA4):c.2246T>C (p.Met749Thr)
|
rs1555773400
|
|
NM_003072.5(SMARCA4):c.2247G>C (p.Met749Ile)
|
rs2088721594
|
|
NM_003072.5(SMARCA4):c.2248G>T (p.Val750Phe)
|
|
|
NM_003072.5(SMARCA4):c.2248_2249insGGG (p.Met749_Val750insGly)
|
rs2088721909
|
|
NM_003072.5(SMARCA4):c.2249T>A (p.Val750Asp)
|
rs572673381
|
|
NM_003072.5(SMARCA4):c.2255G>A (p.Gly752Asp)
|
rs2088722543
|
|
NM_003072.5(SMARCA4):c.226A>G (p.Met76Val)
|
rs1225673675
|
|
NM_003072.5(SMARCA4):c.2274+12G>T
|
|
|
NM_003072.5(SMARCA4):c.2274+5G>A
|
rs775519333
|
|
NM_003072.5(SMARCA4):c.2275-3C>G
|
rs117611401
|
|
NM_003072.5(SMARCA4):c.2275-3C>T
|
rs117611401
|
|
NM_003072.5(SMARCA4):c.2276T>C (p.Ile759Thr)
|
rs878854206
|
|
NM_003072.5(SMARCA4):c.2279A>C (p.Lys760Thr)
|
rs2088998992
|
|
NM_003072.5(SMARCA4):c.2279A>G (p.Lys760Arg)
|
|
|
NM_003072.5(SMARCA4):c.227T>C (p.Met76Thr)
|
rs1599940473
|
|
NM_003072.5(SMARCA4):c.2281_2282delinsAA (p.Gly761Asn)
|
|
|
NM_003072.5(SMARCA4):c.228G>C (p.Met76Ile)
|
rs2085924643
|
|
NM_003072.5(SMARCA4):c.229_237del (p.Glu77_Met79del)
|
|
|
NM_003072.5(SMARCA4):c.22C>A (p.Leu8Met)
|
|
|
NM_003072.5(SMARCA4):c.2310C>A (p.Asn770Lys)
|
rs2146277679
|
|
NM_003072.5(SMARCA4):c.2314A>G (p.Asn772Asp)
|
rs2146277781
|
|
NM_003072.5(SMARCA4):c.2323G>A (p.Gly775Ser)
|
|
|
NM_003072.5(SMARCA4):c.232T>C (p.Ser78Pro)
|
rs878854207
|
|
NM_003072.5(SMARCA4):c.232T>G (p.Ser78Ala)
|
rs878854207
|
|
NM_003072.5(SMARCA4):c.2338G>A (p.Glu780Lys)
|
|
|
NM_003072.5(SMARCA4):c.233C>A (p.Ser78Tyr)
|
rs1555751949
|
|
NM_003072.5(SMARCA4):c.233C>T (p.Ser78Phe)
|
rs1555751949
|
|
NM_003072.5(SMARCA4):c.2341A>T (p.Met781Leu)
|
|
|
NM_003072.5(SMARCA4):c.235A>T (p.Met79Leu)
|
rs767638396
|
|
NM_003072.5(SMARCA4):c.2363A>G (p.Gln788Arg)
|
|
|
NM_003072.5(SMARCA4):c.2368A>G (p.Ile790Val)
|
|
|
NM_003072.5(SMARCA4):c.236T>C (p.Met79Thr)
|
|
|
NM_003072.5(SMARCA4):c.2371G>A (p.Ala791Thr)
|
|
|
NM_003072.5(SMARCA4):c.2372C>T (p.Ala791Val)
|
rs1263140481
|
|
NM_003072.5(SMARCA4):c.2374C>G (p.Leu792Val)
|
rs2146279816
|
|
NM_003072.5(SMARCA4):c.237G>A (p.Met79Ile)
|
|
|
NM_003072.5(SMARCA4):c.2380A>T (p.Thr794Ser)
|
rs2089006879
|
|
NM_003072.5(SMARCA4):c.2381C>T (p.Thr794Met)
|
rs1193519882
|
|
NM_003072.5(SMARCA4):c.2394G>T (p.Glu798Asp)
|
rs1555774749
|
|
NM_003072.5(SMARCA4):c.239A>G (p.His80Arg)
|
rs2145748661
|
|
NM_003072.5(SMARCA4):c.239A>T (p.His80Leu)
|
|
|
NM_003072.5(SMARCA4):c.2401C>T (p.Arg801Cys)
|
rs2089008771
|
|
NM_003072.5(SMARCA4):c.2402G>A (p.Arg801His)
|
rs1568471266
|
|
NM_003072.5(SMARCA4):c.2404A>C (p.Ile802Leu)
|
rs1454445195
|
|
NM_003072.5(SMARCA4):c.2407A>T (p.Asn803Tyr)
|
rs2089009656
|
|
NM_003072.5(SMARCA4):c.2408A>G (p.Asn803Ser)
|
rs2146280868
|
|
NM_003072.5(SMARCA4):c.2416T>A (p.Phe806Ile)
|
rs2089010016
|
|
NM_003072.5(SMARCA4):c.2418C>A (p.Phe806Leu)
|
rs770432256
|
|
NM_003072.5(SMARCA4):c.2423T>G (p.Ile808Ser)
|
|
|
NM_003072.5(SMARCA4):c.2425A>G (p.Ile809Val)
|
|
|
NM_003072.5(SMARCA4):c.2428G>T (p.Val810Leu)
|
rs1060502056
|
|
NM_003072.5(SMARCA4):c.2438+3G>T
|
rs759309497
|
|
NM_003072.5(SMARCA4):c.243G>T (p.Glu81Asp)
|
rs1060504435
|
|
NM_003072.5(SMARCA4):c.2441C>T (p.Thr814Met)
|
rs2089620653
|
|
NM_003072.5(SMARCA4):c.2450A>G (p.Asn817Ser)
|
rs2146359567
|
|
NM_003072.5(SMARCA4):c.2455G>A (p.Ala819Thr)
|
rs767743765
|
|
NM_003072.5(SMARCA4):c.245A>G (p.Lys82Arg)
|
rs2085926327
|
|
NM_003072.5(SMARCA4):c.2469C>G (p.Asp823Glu)
|
rs1568481575
|
|
NM_003072.5(SMARCA4):c.2471A>G (p.Lys824Arg)
|
rs2089622665
|
|
NM_003072.5(SMARCA4):c.2471A>T (p.Lys824Met)
|
rs2089622665
|
|
NM_003072.5(SMARCA4):c.2476G>T (p.Ala826Ser)
|
rs1057524313
|
|
NM_003072.5(SMARCA4):c.2480C>T (p.Pro827Leu)
|
rs2089623348
|
|
NM_003072.5(SMARCA4):c.2485G>A (p.Val829Met)
|
rs1338927115
|
|
NM_003072.5(SMARCA4):c.2488G>A (p.Val830Met)
|
|
|
NM_003072.5(SMARCA4):c.2492A>G (p.Lys831Arg)
|
rs2089624620
|
|
NM_003072.5(SMARCA4):c.2497T>A (p.Ser833Thr)
|
|
|
NM_003072.5(SMARCA4):c.2504A>G (p.Lys835Arg)
|
rs2089625509
|
|
NM_003072.5(SMARCA4):c.2505+6T>C
|
rs1255103191
|
|
NM_003072.5(SMARCA4):c.2506-6T>G
|
|
|
NM_003072.5(SMARCA4):c.2506G>C (p.Gly836Arg)
|
rs2089678643
|
|
NM_003072.5(SMARCA4):c.250A>G (p.Met84Val)
|
rs1568419761
|
|
NM_003072.5(SMARCA4):c.250A>T (p.Met84Leu)
|
rs1568419761
|
|
NM_003072.5(SMARCA4):c.2510C>G (p.Ser837Cys)
|
rs2146372900
|
|
NM_003072.5(SMARCA4):c.2513C>T (p.Pro838Leu)
|
rs2089678940
|
|
NM_003072.5(SMARCA4):c.2515G>A (p.Ala839Thr)
|
rs2089679090
|
|
NM_003072.5(SMARCA4):c.2524C>T (p.Arg842Trp)
|
|
|
NM_003072.5(SMARCA4):c.2527G>A (p.Ala843Thr)
|
rs2146373575
|
|
NM_003072.5(SMARCA4):c.2530T>G (p.Phe844Val)
|
|
|
NM_003072.5(SMARCA4):c.2533G>T (p.Val845Phe)
|
rs878854210
|
|
NM_003072.5(SMARCA4):c.2536C>G (p.Pro846Ala)
|
rs2089681158
|
|
NM_003072.5(SMARCA4):c.2536C>T (p.Pro846Ser)
|
|
|
NM_003072.5(SMARCA4):c.2540A>G (p.Gln847Arg)
|
rs2089681473
|
|
NM_003072.5(SMARCA4):c.2545C>A (p.Arg849=)
|
rs1600257935
|
|
NM_003072.5(SMARCA4):c.2545C>T (p.Arg849Trp)
|
rs1600257935
|
|
NM_003072.5(SMARCA4):c.2546G>A (p.Arg849Gln)
|
rs1213692147
|
|
NM_003072.5(SMARCA4):c.2553G>T (p.Gly851=)
|
rs1167535267
|
|
NM_003072.5(SMARCA4):c.2561A>G (p.Asn854Ser)
|
|
|
NM_003072.5(SMARCA4):c.2563G>A (p.Val855Ile)
|
rs1600258142
|
|
NM_003072.5(SMARCA4):c.2573C>T (p.Thr858Met)
|
rs1480398200
|
|
NM_003072.5(SMARCA4):c.257A>G (p.Asp86Gly)
|
rs2145749357
|
|
NM_003072.5(SMARCA4):c.2585A>G (p.Tyr862Cys)
|
|
|
NM_003072.5(SMARCA4):c.2587A>G (p.Ile863Val)
|
|
|
NM_003072.5(SMARCA4):c.2597A>G (p.Asp866Gly)
|
|
|
NM_003072.5(SMARCA4):c.2598C>A (p.Asp866Glu)
|
|
|
NM_003072.5(SMARCA4):c.259G>A (p.Asp87Asn)
|
rs1366085446
|
|
NM_003072.5(SMARCA4):c.259G>C (p.Asp87His)
|
rs1366085446
|
|
NM_003072.5(SMARCA4):c.259G>T (p.Asp87Tyr)
|
rs1366085446
|
|
NM_003072.5(SMARCA4):c.2600A>G (p.Lys867Arg)
|
rs1555777820
|
|
NM_003072.5(SMARCA4):c.2605A>G (p.Ile869Val)
|
rs2146376383
|
|
NM_003072.5(SMARCA4):c.2607C>G (p.Ile869Met)
|
|
|
NM_003072.5(SMARCA4):c.2611G>A (p.Ala871Thr)
|
rs765073845
|
|
NM_003072.5(SMARCA4):c.2616+2_2616+5dup
|
rs1555777830
|
|
NM_003072.5(SMARCA4):c.2616+4A>G
|
rs1375792226
|
|
NM_003072.5(SMARCA4):c.2616+6G>T
|
rs766415751
|
|
NM_003072.5(SMARCA4):c.2616G>A (p.Lys872=)
|
|
|
NM_003072.5(SMARCA4):c.2617-15C>G
|
|
|
NM_003072.5(SMARCA4):c.2617-4G>T
|
rs201020451
|
|
NM_003072.5(SMARCA4):c.2617A>G (p.Ile873Val)
|
rs2146414847
|
|
NM_003072.5(SMARCA4):c.2621G>A (p.Arg874His)
|
rs1378511462
|
|
NM_003072.5(SMARCA4):c.2627A>G (p.Lys876Arg)
|
rs1600277756
|
|
NM_003072.5(SMARCA4):c.2629T>C (p.Tyr877His)
|
rs1555778688
|
|
NM_003072.5(SMARCA4):c.2629T>G (p.Tyr877Asp)
|
rs1555778688
|
|
NM_003072.5(SMARCA4):c.262C>A (p.Pro88Thr)
|
rs1555751997
|
|
NM_003072.5(SMARCA4):c.262C>T (p.Pro88Ser)
|
|
|
NM_003072.5(SMARCA4):c.2636T>C (p.Ile879Thr)
|
rs1600277882
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
NM_003072.5(SMARCA4):c.2658G>A (p.Met886Ile)
|
|
|
NM_003072.5(SMARCA4):c.265C>T (p.Arg89Cys)
|
rs1568419849
|
|
NM_003072.5(SMARCA4):c.2665C>T (p.His889Tyr)
|
rs2146416653
|
|
NM_003072.5(SMARCA4):c.266G>T (p.Arg89Leu)
|
rs1599941069
|
|
NM_003072.5(SMARCA4):c.2670C>G (p.His890Gln)
|
|
|
NM_003072.5(SMARCA4):c.2688G>A (p.Val896=)
|
|
|
NM_003072.5(SMARCA4):c.2695A>T (p.Thr899Ser)
|
rs2146417780
|
|
NM_003072.5(SMARCA4):c.2696C>T (p.Thr899Met)
|
rs1401056652
|
|
NM_003072.5(SMARCA4):c.2699A>G (p.His900Arg)
|
rs1600278214
|
|
NM_003072.5(SMARCA4):c.26G>A (p.Gly9Asp)
|
rs2145720650
|
|
NM_003072.5(SMARCA4):c.2702A>G (p.Tyr901Cys)
|
|
|
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)
|
rs1600278307
|
|
NM_003072.5(SMARCA4):c.2710C>T (p.Pro904Ser)
|
|
|
NM_003072.5(SMARCA4):c.2713C>G (p.Arg905Gly)
|
|
|
NM_003072.5(SMARCA4):c.2713C>T (p.Arg905Cys)
|
rs1555778721
|
|
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys)
|
rs898406635
|
|
NM_003072.5(SMARCA4):c.2717G>A (p.Arg906His)
|
rs2089896271
|
|
NM_003072.5(SMARCA4):c.2729C>T (p.Thr910Met)
|
rs1238758086
|
|
NM_003072.5(SMARCA4):c.272A>G (p.Asn91Ser)
|
|
|
NM_003072.5(SMARCA4):c.2734A>G (p.Thr912Ala)
|
|
|
NM_003072.5(SMARCA4):c.2735C>T (p.Thr912Ile)
|
rs1600278606
|
|
NM_003072.5(SMARCA4):c.273C>A (p.Asn91Lys)
|
|
|
NM_003072.5(SMARCA4):c.274C>G (p.Gln92Glu)
|
|
|
NM_003072.5(SMARCA4):c.2750A>G (p.Lys917Arg)
|
rs771165740
|
|
NM_003072.5(SMARCA4):c.275_276delinsCC (p.Gln92Pro)
|
rs2085928938
|
|
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser)
|
rs1555778797
|
|
NM_003072.5(SMARCA4):c.277A>T (p.Met93Leu)
|
rs777647740
|
|
NM_003072.5(SMARCA4):c.2783T>C (p.Leu928Pro)
|
rs1555778801
|
|
NM_003072.5(SMARCA4):c.2788C>T (p.Pro930Ser)
|
rs1600279182
|
|
NM_003072.5(SMARCA4):c.279G>A (p.Met93Ile)
|
rs2145750364
|
|
NM_003072.5(SMARCA4):c.2810G>A (p.Ser937Asn)
|
rs981910345
|
|
NM_003072.5(SMARCA4):c.2818G>A (p.Glu940Lys)
|
rs1568487189
|
|
NM_003072.5(SMARCA4):c.2833G>A (p.Ala945Thr)
|
rs1445478818
|
|
NM_003072.5(SMARCA4):c.2845A>T (p.Met949Leu)
|
rs2146423428
|
|
NM_003072.5(SMARCA4):c.284G>A (p.Gly95Glu)
|
|
|
NM_003072.5(SMARCA4):c.2852G>A (p.Gly951Glu)
|
rs2146423728
|
|
NM_003072.5(SMARCA4):c.2858A>G (p.Lys953Arg)
|
rs1256465004
|
|
NM_003072.5(SMARCA4):c.2859+3G>A
|
rs2089905213
|
|
NM_003072.5(SMARCA4):c.2859+4G>A
|
|
|
NM_003072.5(SMARCA4):c.2860-3C>T
|
rs757292816
|
|
NM_003072.5(SMARCA4):c.287T>A (p.Met96Lys)
|
rs2145750571
|
|
NM_003072.5(SMARCA4):c.2881A>G (p.Thr961Ala)
|
|
|
NM_003072.5(SMARCA4):c.2882C>T (p.Thr961Ile)
|
|
|
NM_003072.5(SMARCA4):c.2884A>G (p.Ile962Val)
|
|
|
NM_003072.5(SMARCA4):c.2891T>C (p.Ile964Thr)
|
rs2090025960
|
|
NM_003072.5(SMARCA4):c.2897G>C (p.Arg966Pro)
|
|
|
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His)
|
rs1085307769
|
|
NM_003072.5(SMARCA4):c.290G>C (p.Gly97Ala)
|
rs1056057044
|
|
NM_003072.5(SMARCA4):c.290G>T (p.Gly97Val)
|
rs1056057044
|
|
NM_003072.5(SMARCA4):c.2911G>A (p.Val971Met)
|
rs2090026904
|
|
NM_003072.5(SMARCA4):c.2918G>A (p.Arg973Gln)
|
|
|
NM_003072.5(SMARCA4):c.2918G>C (p.Arg973Pro)
|
rs2090027331
|
|
NM_003072.5(SMARCA4):c.292A>G (p.Met98Val)
|
|
|
NM_003072.5(SMARCA4):c.292A>T (p.Met98Leu)
|
|
|
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln)
|
rs1180804356
|
|
NM_003072.5(SMARCA4):c.293T>C (p.Met98Thr)
|
rs1555752060
|
|
NM_003072.5(SMARCA4):c.294G>T (p.Met98Ile)
|
rs757214683
|
|
NM_003072.5(SMARCA4):c.2956G>A (p.Ala986Thr)
|
rs1555779631
|
|
NM_003072.5(SMARCA4):c.295C>T (p.Arg99Trp)
|
rs778890805
|
|
NM_003072.5(SMARCA4):c.295_318dup (p.Arg99_Met106dup)
|
rs1599941221
|
|
NM_003072.5(SMARCA4):c.296G>A (p.Arg99Gln)
|
rs745406632
|
|
NM_003072.5(SMARCA4):c.2973+10T>G
|
rs2090031606
|
|
NM_003072.5(SMARCA4):c.2973+4A>G
|
rs2090030962
|
|
NM_003072.5(SMARCA4):c.2973+6G>A
|
|
|
NM_003072.5(SMARCA4):c.2974-9C>A
|
rs371801361
|
|
NM_003072.5(SMARCA4):c.2974-9_2974-8delinsTT
|
|
|
NM_003072.5(SMARCA4):c.2974G>A (p.Val992Met)
|
|
|
NM_003072.5(SMARCA4):c.2983G>A (p.Val995Ile)
|
rs1600300689
|
|
NM_003072.5(SMARCA4):c.2986A>C (p.Ile996Leu)
|
|
|
NM_003072.5(SMARCA4):c.2986A>G (p.Ile996Val)
|
|
|
NM_003072.5(SMARCA4):c.298T>G (p.Ser100Ala)
|
|
|
NM_003072.5(SMARCA4):c.2990A>G (p.Lys997Arg)
|
|
|
NM_003072.5(SMARCA4):c.2993G>A (p.Cys998Tyr)
|
rs2146472537
|
|
NM_003072.5(SMARCA4):c.2995G>A (p.Asp999Asn)
|
rs1555779989
|
|
NM_003072.5(SMARCA4):c.2996A>C (p.Asp999Ala)
|
rs2090098830
|
|
NM_003072.5(SMARCA4):c.2998A>G (p.Met1000Val)
|
rs1600300787
|
|
NM_003072.5(SMARCA4):c.299C>T (p.Ser100Leu)
|
rs2145750976
|
|
NM_003072.5(SMARCA4):c.3008T>G (p.Leu1003Arg)
|
rs2090099530
|
|
NM_003072.5(SMARCA4):c.3011A>G (p.Gln1004Arg)
|
|
|
NM_003072.5(SMARCA4):c.3014G>A (p.Arg1005Gln)
|
rs1555780008
|
|
NM_003072.5(SMARCA4):c.301G>C (p.Gly101Arg)
|
|
|
NM_003072.5(SMARCA4):c.3023A>C (p.Tyr1008Ser)
|
rs2146473833
|
|
NM_003072.5(SMARCA4):c.3025C>T (p.Arg1009Cys)
|
rs777562578
|
|
NM_003072.5(SMARCA4):c.3026G>T (p.Arg1009Leu)
|
|
|
NM_003072.5(SMARCA4):c.3028C>A (p.His1010Asn)
|
rs2146474042
|
|
NM_003072.5(SMARCA4):c.3029A>G (p.His1010Arg)
|
|
|
NM_003072.5(SMARCA4):c.302G>A (p.Gly101Glu)
|
rs1555752083
|
|
NM_003072.5(SMARCA4):c.3037G>A (p.Ala1013Thr)
|
rs1600301106
|
|
NM_003072.5(SMARCA4):c.304G>T (p.Gly102Cys)
|
rs779627018
|
|
NM_003072.5(SMARCA4):c.305G>A (p.Gly102Asp)
|
rs746602808
|
|
NM_003072.5(SMARCA4):c.305G>C (p.Gly102Ala)
|
rs746602808
|
|
NM_003072.5(SMARCA4):c.3065C>T (p.Ser1022Phe)
|
rs2090102305
|
|
NM_003072.5(SMARCA4):c.3067G>A (p.Glu1023Lys)
|
rs1555780047
|
|
NM_003072.5(SMARCA4):c.3081+3G>A
|
rs2090103237
|
|
NM_003072.5(SMARCA4):c.3081+3_3081+4delinsCA
|
rs1555780058
|
|
NM_003072.5(SMARCA4):c.3081+4G>A
|
|
|
NM_003072.5(SMARCA4):c.3081+6C>G
|
|
|
NM_003072.5(SMARCA4):c.308A>T (p.His103Leu)
|
rs770147215
|
|
NM_003072.5(SMARCA4):c.3091G>A (p.Gly1031Ser)
|
rs749947536
|
|
NM_003072.5(SMARCA4):c.3095C>G (p.Thr1032Ser)
|
rs2146496372
|
|
NM_003072.5(SMARCA4):c.3101C>A (p.Thr1034Asn)
|
|
|
NM_003072.5(SMARCA4):c.3101C>T (p.Thr1034Ile)
|
rs1568493644
|
|
NM_003072.5(SMARCA4):c.3101_3102delinsTT (p.Thr1034Ile)
|
|
|
NM_003072.5(SMARCA4):c.310G>A (p.Ala104Thr)
|
rs1599941622
|
|
NM_003072.5(SMARCA4):c.310G>T (p.Ala104Ser)
|
rs1599941622
|
|
NM_003072.5(SMARCA4):c.3118A>G (p.Met1040Val)
|
|
|
NM_003072.5(SMARCA4):c.311C>T (p.Ala104Val)
|
rs1555752113
|
|
NM_003072.5(SMARCA4):c.313G>A (p.Gly105Arg)
|
rs1060502074
|
|
NM_003072.5(SMARCA4):c.3142C>T (p.His1048Tyr)
|
|
|
NM_003072.5(SMARCA4):c.3149A>T (p.Tyr1050Phe)
|
rs2090184575
|
|
NM_003072.5(SMARCA4):c.3151A>G (p.Met1051Val)
|
rs2146498393
|
|
NM_003072.5(SMARCA4):c.3151A>T (p.Met1051Leu)
|
|
|
NM_003072.5(SMARCA4):c.3159G>T (p.Gln1053His)
|
|
|
NM_003072.5(SMARCA4):c.3161A>C (p.His1054Pro)
|
|
|
NM_003072.5(SMARCA4):c.3165C>G (p.Ile1055Met)
|
|
|
NM_003072.5(SMARCA4):c.3168+6C>A
|
|
|
NM_003072.5(SMARCA4):c.3169G>C (p.Glu1057Gln)
|
rs1555781050
|
|
NM_003072.5(SMARCA4):c.316A>G (p.Met106Val)
|
rs773526113
|
|
NM_003072.5(SMARCA4):c.316A>T (p.Met106Leu)
|
|
|
NM_003072.5(SMARCA4):c.3172T>G (p.Ser1058Ala)
|
rs1568495291
|
|
NM_003072.5(SMARCA4):c.317T>G (p.Met106Arg)
|
|
|
NM_003072.5(SMARCA4):c.3181G>A (p.Glu1061Lys)
|
|
|
NM_003072.5(SMARCA4):c.318G>A (p.Met106Ile)
|
rs1555752136
|
|
NM_003072.5(SMARCA4):c.3190G>A (p.Gly1064Arg)
|
|
|
NM_003072.5(SMARCA4):c.3196A>G (p.Thr1066Ala)
|
|
|
NM_003072.5(SMARCA4):c.3197C>A (p.Thr1066Asn)
|
rs1555781082
|
|
NM_003072.5(SMARCA4):c.3197C>T (p.Thr1066Ile)
|
rs1555781082
|
|
NM_003072.5(SMARCA4):c.31A>G (p.Thr11Ala)
|
rs1060502067
|
|
NM_003072.5(SMARCA4):c.3200G>A (p.Gly1067Asp)
|
rs2090254973
|
|
NM_003072.5(SMARCA4):c.3205A>G (p.Ile1069Val)
|
rs1555781098
|
|
NM_003072.5(SMARCA4):c.320G>T (p.Gly107Val)
|
|
|
NM_003072.5(SMARCA4):c.3215+5G>A
|
rs2090256316
|
|
NM_003072.5(SMARCA4):c.3216-17C>A
|
|
|
NM_003072.5(SMARCA4):c.3216-346C>T
|
|
|
NM_003072.5(SMARCA4):c.3232G>C (p.Ala1078Pro)
|
|
|
NM_003072.5(SMARCA4):c.3233C>G (p.Ala1078Gly)
|
|
|
NM_003072.5(SMARCA4):c.323C>T (p.Pro108Leu)
|
rs1198747280
|
|
NM_003072.5(SMARCA4):c.3249G>C (p.Glu1083Asp)
|
rs1600335341
|
|
NM_003072.5(SMARCA4):c.3256G>A (p.Asp1086Asn)
|
rs1600335439
|
|
NM_003072.5(SMARCA4):c.325C>T (p.Pro109Ser)
|
rs2085934580
|
|
NM_003072.5(SMARCA4):c.3262A>G (p.Ile1088Val)
|
rs2090374012
|
|
NM_003072.5(SMARCA4):c.3265C>T (p.Leu1089Phe)
|
rs1600335596
|
|
NM_003072.5(SMARCA4):c.3268C>T (p.Pro1090Ser)
|
rs2146542763
|
|
NM_003072.5(SMARCA4):c.3271A>G (p.Lys1091Glu)
|
|
|
NM_003072.5(SMARCA4):c.3272A>G (p.Lys1091Arg)
|
rs1555781772
|
|
NM_003072.5(SMARCA4):c.3278G>A (p.Arg1093Gln)
|
rs1568498301
|
|
NM_003072.5(SMARCA4):c.3278G>T (p.Arg1093Leu)
|
rs1568498301
|
|
NM_003072.5(SMARCA4):c.3280G>A (p.Ala1094Thr)
|
rs1600335831
|
|
NM_003072.5(SMARCA4):c.3287A>G (p.Asn1096Ser)
|
rs1354262139
|
|
NM_003072.5(SMARCA4):c.328C>T (p.Pro110Ser)
|
rs2145752088
|
|
NM_003072.5(SMARCA4):c.32C>G (p.Thr11Ser)
|
rs1568416665
|
|
NM_003072.5(SMARCA4):c.32C>T (p.Thr11Ile)
|
rs1568416665
|
|
NM_003072.5(SMARCA4):c.3301C>G (p.Leu1101Val)
|
rs1600336031
|
|
NM_003072.5(SMARCA4):c.3315G>T (p.Met1105Ile)
|
rs2090376788
|
|
NM_003072.5(SMARCA4):c.3316A>G (p.Thr1106Ala)
|
rs2146544445
|
|
NM_003072.5(SMARCA4):c.331A>G (p.Ser111Gly)
|
rs1599941986
|
|
NM_003072.5(SMARCA4):c.3320C>T (p.Ser1107Phe)
|
rs2146544542
|
|
NM_003072.5(SMARCA4):c.3331A>G (p.Ile1111Val)
|
rs2090377448
|
|
NM_003072.5(SMARCA4):c.3348T>G (p.Phe1116Leu)
|
|
|
NM_003072.5(SMARCA4):c.3349G>T (p.Ala1117Ser)
|
rs548906832
|
|
NM_003072.5(SMARCA4):c.334C>G (p.Pro112Ala)
|
|
|
NM_003072.5(SMARCA4):c.3350C>G (p.Ala1117Gly)
|
rs755069412
|
|
NM_003072.5(SMARCA4):c.3353A>G (p.Tyr1118Cys)
|
rs2146545716
|
|
NM_003072.5(SMARCA4):c.3355C>G (p.Arg1119Gly)
|
rs2090378511
|
|
NM_003072.5(SMARCA4):c.3355C>T (p.Arg1119Cys)
|
rs2090378511
|
|
NM_003072.5(SMARCA4):c.3358G>T (p.Gly1120Cys)
|
rs373590049
|
|
NM_003072.5(SMARCA4):c.3362T>A (p.Phe1121Tyr)
|
rs2146546041
|
|
NM_003072.5(SMARCA4):c.3365A>G (p.Lys1122Arg)
|
rs2146546121
|
|
NM_003072.5(SMARCA4):c.3368A>G (p.Tyr1123Cys)
|
|
|
NM_003072.5(SMARCA4):c.337A>G (p.Met113Val)
|
rs774919609
|
|
NM_003072.5(SMARCA4):c.3381T>C (p.Asp1127=)
|
|
|
NM_003072.5(SMARCA4):c.3382+3_3382+6del
|
rs2090379999
|
|
NM_003072.5(SMARCA4):c.3382_3382+3dup
|
|
|
NM_003072.5(SMARCA4):c.3383-3C>G
|
rs371558035
|
|
NM_003072.5(SMARCA4):c.3383G>A (p.Gly1128Glu)
|
|
|
NM_003072.5(SMARCA4):c.3389C>T (p.Thr1130Met)
|
|
|
NM_003072.5(SMARCA4):c.338T>C (p.Met113Thr)
|
rs1175163671
|
|
NM_003072.5(SMARCA4):c.338T>G (p.Met113Arg)
|
rs1175163671
|
|
NM_003072.5(SMARCA4):c.3394G>T (p.Ala1132Ser)
|
rs2146597778
|
|
NM_003072.5(SMARCA4):c.3395C>T (p.Ala1132Val)
|
rs1555783136
|
|
NM_003072.5(SMARCA4):c.3402C>A (p.Asp1134Glu)
|
rs2074871664
|
|
NM_003072.5(SMARCA4):c.3407G>A (p.Gly1136Asp)
|
rs2074871956
|
|
NM_003072.5(SMARCA4):c.340G>T (p.Asp114Tyr)
|
|
|
NM_003072.5(SMARCA4):c.3427_3429del (p.Asn1143del)
|
rs2074872807
|
|
NM_003072.5(SMARCA4):c.3430G>A (p.Glu1144Lys)
|
rs1600364662
|
|
NM_003072.5(SMARCA4):c.3433C>T (p.Pro1145Ser)
|
rs2146599286
|
|
NM_003072.5(SMARCA4):c.3436G>T (p.Gly1146Cys)
|
rs200007170
|
|
NM_003072.5(SMARCA4):c.3437G>T (p.Gly1146Val)
|
rs566531015
|
|
NM_003072.5(SMARCA4):c.3442G>C (p.Glu1148Gln)
|
rs1555783190
|
|
NM_003072.5(SMARCA4):c.3445T>C (p.Tyr1149His)
|
rs2074875124
|
|
NM_003072.5(SMARCA4):c.3446A>G (p.Tyr1149Cys)
|
rs2074875260
|
|
NM_003072.5(SMARCA4):c.3451A>G (p.Ile1151Val)
|
rs544231909
|
|
NM_003072.5(SMARCA4):c.345G>C (p.Gln115His)
|
rs2085937175
|
|
NM_003072.5(SMARCA4):c.346C>T (p.His116Tyr)
|
rs1599942158
|
|
NM_003072.5(SMARCA4):c.3479G>A (p.Gly1160Glu)
|
rs2074877069
|
|
NM_003072.5(SMARCA4):c.347A>G (p.His116Arg)
|
|
|
NM_003072.5(SMARCA4):c.3500C>G (p.Ser1167Trp)
|
rs1192589668
|
|
NM_003072.5(SMARCA4):c.350C>G (p.Ser117Cys)
|
rs759594383
|
|
NM_003072.5(SMARCA4):c.3514A>G (p.Ile1172Val)
|
|
|
NM_003072.5(SMARCA4):c.3546+3A>G
|
rs2074879994
|
|
NM_003072.5(SMARCA4):c.3546+5A>G
|
|
|
NM_003072.5(SMARCA4):c.3547-3del
|
rs2075055829
|
|
NM_003072.5(SMARCA4):c.354A>C (p.Gln118His)
|
rs1329881837
|
|
NM_003072.5(SMARCA4):c.355+6G>A
|
rs2085939729
|
|
NM_003072.5(SMARCA4):c.3554A>G (p.Gln1185Arg)
|
rs2075056831
|
|
NM_003072.5(SMARCA4):c.355G>C (p.Gly119Arg)
|
rs1555752203
|
|
NM_003072.5(SMARCA4):c.356-3C>T
|
rs1599948631
|
|
NM_003072.5(SMARCA4):c.3560A>C (p.Gln1187Pro)
|
|
|
NM_003072.5(SMARCA4):c.356G>A (p.Gly119Asp)
|
rs1599948657
|
|
NM_003072.5(SMARCA4):c.3577A>G (p.Ile1193Val)
|
rs1555784468
|
|
NM_003072.5(SMARCA4):c.3599G>A (p.Arg1200His)
|
rs749001381
|
|
NM_003072.5(SMARCA4):c.35C>A (p.Pro12His)
|
|
|
NM_003072.5(SMARCA4):c.3610C>T (p.Leu1204Phe)
|
rs1555784504
|
|
NM_003072.5(SMARCA4):c.3614G>A (p.Cys1205Tyr)
|
rs112043656
|
|
NM_003072.5(SMARCA4):c.3619G>A (p.Val1207Ile)
|
rs201974258
|
|
NM_003072.5(SMARCA4):c.361C>T (p.Pro121Ser)
|
rs1599948709
|
|
NM_003072.5(SMARCA4):c.3623A>G (p.Asn1208Ser)
|
rs2146650410
|
|
NM_003072.5(SMARCA4):c.362C>T (p.Pro121Leu)
|
rs2086015204
|
|
NM_003072.5(SMARCA4):c.3647C>T (p.Ala1216Val)
|
rs1600389938
|
|
NM_003072.5(SMARCA4):c.364T>C (p.Ser122Pro)
|
rs2086015550
|
|
NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu)
|
rs1555752859
|
|
NM_003072.5(SMARCA4):c.3679A>G (p.Lys1227Glu)
|
rs1568509876
|
|
NM_003072.5(SMARCA4):c.367C>A (p.Pro123Thr)
|
rs1568421595
|
|
NM_003072.5(SMARCA4):c.368C>A (p.Pro123His)
|
rs2145771332
|
|
NM_003072.5(SMARCA4):c.3703G>A (p.Asp1235Asn)
|
rs759192892
|
|
NM_003072.5(SMARCA4):c.370C>G (p.Leu124Val)
|
rs2145771417
|
|
NM_003072.5(SMARCA4):c.3718A>G (p.Ser1240Gly)
|
rs2075065054
|
|
NM_003072.5(SMARCA4):c.3721C>A (p.His1241Asn)
|
|
|
NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys)
|
rs2146654092
|
|
NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His)
|
rs1060502060
|
|
NM_003072.5(SMARCA4):c.3733G>A (p.Ala1245Thr)
|
rs1600390635
|
|
NM_003072.5(SMARCA4):c.374G>A (p.Gly125Asp)
|
rs757566936
|
|
NM_003072.5(SMARCA4):c.3760G>A (p.Glu1254Lys)
|
rs2146655256
|
|
NM_003072.5(SMARCA4):c.3768_3774+7dup
|
rs2146655619
|
|
NM_003072.5(SMARCA4):c.3769G>A (p.Asp1257Asn)
|
|
|
NM_003072.5(SMARCA4):c.3769G>C (p.Asp1257His)
|
rs878854214
|
|
NM_003072.5(SMARCA4):c.376G>A (p.Gly126Ser)
|
|
|
NM_003072.5(SMARCA4):c.376G>C (p.Gly126Arg)
|
|
|
NM_003072.5(SMARCA4):c.376G>T (p.Gly126Cys)
|
|
|
NM_003072.5(SMARCA4):c.3771T>A (p.Asp1257Glu)
|
rs2146655723
|
|
NM_003072.5(SMARCA4):c.3774+1_3774+5dup
|
|
|
NM_003072.5(SMARCA4):c.3774+3G>C
|
rs1600390925
|
|
NM_003072.5(SMARCA4):c.3774+4A>G
|
rs1600390948
|
|
NM_003072.5(SMARCA4):c.3774+4A>T
|
rs1600390948
|
|
NM_003072.5(SMARCA4):c.3775-10_3775-7del
|
rs1060502076
|
|
NM_003072.5(SMARCA4):c.3775-3C>A
|
rs376039891
|
|
NM_003072.5(SMARCA4):c.3775-3C>T
|
rs376039891
|
|
NM_003072.5(SMARCA4):c.3775-6C>T
|
rs2146664016
|
|
NM_003072.5(SMARCA4):c.3775-9T>G
|
rs2146663886
|
|
NM_003072.5(SMARCA4):c.377G>T (p.Gly126Val)
|
rs2145771699
|
|
NM_003072.5(SMARCA4):c.3782A>G (p.His1261Arg)
|
rs2075086500
|
|
NM_003072.5(SMARCA4):c.3785G>A (p.Cys1262Tyr)
|
|
|
NM_003072.5(SMARCA4):c.3787A>G (p.Ser1263Gly)
|
|
|
NM_003072.5(SMARCA4):c.3790A>G (p.Thr1264Ala)
|
rs2075086877
|
|
NM_003072.5(SMARCA4):c.3790A>T (p.Thr1264Ser)
|
rs2075086877
|
|
NM_003072.5(SMARCA4):c.3791C>A (p.Thr1264Lys)
|
rs377119410
|
|
NM_003072.5(SMARCA4):c.3794G>C (p.Gly1265Ala)
|
rs775157286
|
|
NM_003072.5(SMARCA4):c.37C>T (p.Arg13Trp)
|
rs1568416700
|
|
NM_003072.5(SMARCA4):c.3808A>G (p.Ser1270Gly)
|
rs1600393477
|
|
NM_003072.5(SMARCA4):c.3814G>T (p.Ala1272Ser)
|
rs776672640
|
|
NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg)
|
rs1600393629
|
|
NM_003072.5(SMARCA4):c.3820A>G (p.Thr1274Ala)
|
rs1600393687
|
|
NM_003072.5(SMARCA4):c.3823G>C (p.Ala1275Pro)
|
rs1600393728
|
|
NM_003072.5(SMARCA4):c.3826C>A (p.Pro1276Thr)
|
|
|
NM_003072.5(SMARCA4):c.3827C>G (p.Pro1276Arg)
|
rs2075090923
|
|
NM_003072.5(SMARCA4):c.3830C>A (p.Pro1277Gln)
|
rs746219091
|
|
NM_003072.5(SMARCA4):c.3833C>T (p.Pro1278Leu)
|
rs2075091471
|
|
NM_003072.5(SMARCA4):c.3836C>T (p.Ala1279Val)
|
rs1232715199
|
|
NM_003072.5(SMARCA4):c.3838G>A (p.Gly1280Ser)
|
rs2075091931
|
|
NM_003072.5(SMARCA4):c.3844A>G (p.Asn1282Asp)
|
rs2075092306
|
|
NM_003072.5(SMARCA4):c.3848C>T (p.Pro1283Leu)
|
rs2146667556
|
|
NM_003072.5(SMARCA4):c.3851A>G (p.Asp1284Gly)
|
|
|
NM_003072.5(SMARCA4):c.3855G>A (p.Leu1285=)
|
rs1600394125
|
|
NM_003072.5(SMARCA4):c.3855G>T (p.Leu1285Phe)
|
|
|
NM_003072.5(SMARCA4):c.3856G>C (p.Glu1286Gln)
|
rs2146667976
|
|
NM_003072.5(SMARCA4):c.3858G>C (p.Glu1286Asp)
|
|
|
NM_003072.5(SMARCA4):c.3860A>T (p.Glu1287Val)
|
rs1568511022
|
|
NM_003072.5(SMARCA4):c.3862C>T (p.Pro1288Ser)
|
|
|
NM_003072.5(SMARCA4):c.3865C>T (p.Pro1289Ser)
|
rs1356762692
|
|
NM_003072.5(SMARCA4):c.3866C>T (p.Pro1289Leu)
|
rs2146668438
|
|
NM_003072.5(SMARCA4):c.3868C>G (p.Leu1290Val)
|
rs1555784851
|
|
NM_003072.5(SMARCA4):c.3873+3G>T
|
|
|
NM_003072.5(SMARCA4):c.3873+5G>A
|
rs1057522951
|
|
NM_003072.5(SMARCA4):c.3873+6A>C
|
|
|
NM_003072.5(SMARCA4):c.3873+6_3873+7del
|
rs2146668744
|
|
NM_003072.5(SMARCA4):c.3873+8G>A
|
|
|
NM_003072.5(SMARCA4):c.3873G>T (p.Lys1291Asn)
|
rs2075094217
|
|
NM_003072.5(SMARCA4):c.3874-5T>C
|
rs1600397317
|
|
NM_003072.5(SMARCA4):c.3878A>G (p.Glu1293Gly)
|
|
|
NM_003072.5(SMARCA4):c.388G>A (p.Ala130Thr)
|
rs779298300
|
|
NM_003072.5(SMARCA4):c.3895G>A (p.Asp1299Asn)
|
rs747286271
|
|
NM_003072.5(SMARCA4):c.3898G>A (p.Glu1300Lys)
|
rs1555785006
|
|
NM_003072.5(SMARCA4):c.389C>T (p.Ala130Val)
|
|
|
NM_003072.5(SMARCA4):c.38G>T (p.Arg13Leu)
|
|
|
NM_003072.5(SMARCA4):c.3908A>G (p.Asn1303Ser)
|
rs2075118158
|
|
NM_003072.5(SMARCA4):c.3913A>G (p.Met1305Val)
|
rs1568512179
|
|
NM_003072.5(SMARCA4):c.3916A>G (p.Ile1306Val)
|
rs1060502080
|
|
NM_003072.5(SMARCA4):c.391T>C (p.Ser131Pro)
|
|
|
NM_003072.5(SMARCA4):c.3926A>G (p.His1309Arg)
|
rs1158845896
|
|
NM_003072.5(SMARCA4):c.3927C>G (p.His1309Gln)
|
rs148495641
|
|
NM_003072.5(SMARCA4):c.3928G>A (p.Glu1310Lys)
|
|
|
NM_003072.5(SMARCA4):c.3928G>C (p.Glu1310Gln)
|
|
|
NM_003072.5(SMARCA4):c.3929A>T (p.Glu1310Val)
|
|
|
NM_003072.5(SMARCA4):c.392C>G (p.Ser131Cys)
|
rs1555752952
|
|
NM_003072.5(SMARCA4):c.392C>T (p.Ser131Phe)
|
|
|
NM_003072.5(SMARCA4):c.3941A>T (p.Asp1314Val)
|
rs2075119766
|
|
NM_003072.5(SMARCA4):c.3943C>G (p.Leu1315Val)
|
rs1555785043
|
|
NM_003072.5(SMARCA4):c.3946T>C (p.Phe1316Leu)
|
rs2075120276
|
|
NM_003072.5(SMARCA4):c.3947T>A (p.Phe1316Tyr)
|
rs1455103075
|
|
NM_003072.5(SMARCA4):c.3950T>C (p.Met1317Thr)
|
rs1555785051
|
|
NM_003072.5(SMARCA4):c.3951+3A>G
|
rs1600398046
|
|
NM_003072.5(SMARCA4):c.3951+5G>A
|
|
|
NM_003072.5(SMARCA4):c.3951G>A (p.Met1317Ile)
|
|
|
NM_003072.5(SMARCA4):c.3952-11C>G
|
|
|
NM_003072.5(SMARCA4):c.3952-12C>T
|
|
|
NM_003072.5(SMARCA4):c.3952-17G>T
|
|
|
NM_003072.5(SMARCA4):c.3953G>A (p.Arg1318His)
|
rs2075174391
|
|
NM_003072.5(SMARCA4):c.3955A>C (p.Met1319Leu)
|
rs2075174627
|
|
NM_003072.5(SMARCA4):c.3955A>G (p.Met1319Val)
|
rs2075174627
|
|
NM_003072.5(SMARCA4):c.3956T>C (p.Met1319Thr)
|
rs2075174760
|
|
NM_003072.5(SMARCA4):c.3957G>A (p.Met1319Ile)
|
|
|
NM_003072.5(SMARCA4):c.395G>A (p.Ser132Asn)
|
rs1568421747
|
|
NM_003072.5(SMARCA4):c.3960C>A (p.Asp1320Glu)
|
|
|
NM_003072.5(SMARCA4):c.3961C>A (p.Leu1321Met)
|
|
|
NM_003072.5(SMARCA4):c.3967C>T (p.Arg1323Cys)
|
rs867953095
|
|
NM_003072.5(SMARCA4):c.3968G>A (p.Arg1323His)
|
rs61750054
|
|
NM_003072.5(SMARCA4):c.3969C>T (p.Arg1323=)
|
rs2075175651
|
|
NM_003072.5(SMARCA4):c.3974G>A (p.Arg1325His)
|
rs1600405478
|
|
NM_003072.5(SMARCA4):c.3976G>A (p.Glu1326Lys)
|
rs1482864360
|
|
NM_003072.5(SMARCA4):c.3977A>T (p.Glu1326Val)
|
rs2146696740
|
|
NM_003072.5(SMARCA4):c.3978G>C (p.Glu1326Asp)
|
rs1060502090
|
|
NM_003072.5(SMARCA4):c.397C>T (p.Pro133Ser)
|
|
|
NM_003072.5(SMARCA4):c.3980A>G (p.Glu1327Gly)
|
|
|
NM_003072.5(SMARCA4):c.3981G>T (p.Glu1327Asp)
|
rs878854218
|
|
NM_003072.5(SMARCA4):c.3985C>G (p.Arg1329Gly)
|
rs878854219
|
|
NM_003072.5(SMARCA4):c.3985C>T (p.Arg1329Cys)
|
rs878854219
|
|
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His)
|
rs1555785361
|
|
NM_003072.5(SMARCA4):c.398C>T (p.Pro133Leu)
|
rs2145772612
|
|
NM_003072.5(SMARCA4):c.3991C>G (p.Pro1331Ala)
|
rs1555785363
|
|
NM_003072.5(SMARCA4):c.3992C>T (p.Pro1331Leu)
|
rs1568514190
|
|
NM_003072.5(SMARCA4):c.3995A>G (p.Lys1332Arg)
|
|
|
NM_003072.5(SMARCA4):c.3997C>T (p.Arg1333Trp)
|
rs1403269611
|
|
NM_003072.5(SMARCA4):c.3G>A (p.Met1Ile)
|
rs2145720045
|
|
NM_003072.5(SMARCA4):c.4001A>C (p.Lys1334Thr)
|
|
|
NM_003072.5(SMARCA4):c.4001A>G (p.Lys1334Arg)
|
rs2075177811
|
|
NM_003072.5(SMARCA4):c.4002G>C (p.Lys1334Asn)
|
rs2146697899
|
|
NM_003072.5(SMARCA4):c.4007G>A (p.Arg1336His)
|
|
|
NM_003072.5(SMARCA4):c.4012A>C (p.Met1338Leu)
|
|
|
NM_003072.5(SMARCA4):c.4012A>G (p.Met1338Val)
|
rs1555785383
|
|
NM_003072.5(SMARCA4):c.4014G>A (p.Met1338Ile)
|
rs1462986718
|
|
NM_003072.5(SMARCA4):c.4022A>G (p.Asp1341Gly)
|
rs1600406074
|
|
NM_003072.5(SMARCA4):c.4027C>T (p.Leu1343Phe)
|
rs1394867973
|
|
NM_003072.5(SMARCA4):c.4033T>G (p.Ser1345Ala)
|
|
|
NM_003072.5(SMARCA4):c.4034C>T (p.Ser1345Leu)
|
rs746533073
|
|
NM_003072.5(SMARCA4):c.4038G>T (p.Trp1346Cys)
|
|
|
NM_003072.5(SMARCA4):c.403C>T (p.Pro135Ser)
|
rs150949949
|
|
NM_003072.5(SMARCA4):c.4043T>G (p.Ile1348Ser)
|
rs2146699503
|
|
NM_003072.5(SMARCA4):c.404C>T (p.Pro135Leu)
|
|
|
NM_003072.5(SMARCA4):c.4055C>T (p.Ala1352Val)
|
rs1568514549
|
|
NM_003072.5(SMARCA4):c.4066C>T (p.Arg1356Trp)
|
|
|
NM_003072.5(SMARCA4):c.4067G>T (p.Arg1356Leu)
|
|
|
NM_003072.5(SMARCA4):c.406G>T (p.Ala136Ser)
|
|
|
NM_003072.5(SMARCA4):c.4076G>A (p.Cys1359Tyr)
|
rs2075182244
|
|
NM_003072.5(SMARCA4):c.4076G>C (p.Cys1359Ser)
|
rs2075182244
|
|
NM_003072.5(SMARCA4):c.4078GAG[4] (p.Glu1364del)
|
rs148514235
|
|
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val)
|
rs535299273
|
|
NM_003072.5(SMARCA4):c.4087G>A (p.Glu1363Lys)
|
|
|
NM_003072.5(SMARCA4):c.4090G>C (p.Glu1364Gln)
|
|
|
NM_003072.5(SMARCA4):c.4091A>C (p.Glu1364Ala)
|
rs2075182920
|
|
NM_003072.5(SMARCA4):c.4091AGA[1] (p.Lys1365del)
|
rs1600406755
|
|
NM_003072.5(SMARCA4):c.4099T>C (p.Phe1367Leu)
|
rs2146701825
|
|
NM_003072.5(SMARCA4):c.40C>A (p.Pro14Thr)
|
rs754291337
|
|
NM_003072.5(SMARCA4):c.40_41delinsGA (p.Pro14Glu)
|
rs2145721177
|
|
NM_003072.5(SMARCA4):c.4101C>G (p.Phe1367Leu)
|
rs772075876
|
|
NM_003072.5(SMARCA4):c.4102G>A (p.Gly1368Ser)
|
rs1060502101
|
|
NM_003072.5(SMARCA4):c.4105C>T (p.Arg1369Cys)
|
rs199962502
|
|
NM_003072.5(SMARCA4):c.4108G>A (p.Gly1370Ser)
|
|
|
NM_003072.5(SMARCA4):c.4112C>T (p.Ser1371Phe)
|
rs1555785467
|
|
NM_003072.5(SMARCA4):c.4120C>T (p.Arg1374Cys)
|
|
|
NM_003072.5(SMARCA4):c.4121G>A (p.Arg1374His)
|
rs1060502070
|
|
NM_003072.5(SMARCA4):c.4127A>C (p.Glu1376Ala)
|
|
|
NM_003072.5(SMARCA4):c.413G>A (p.Gly138Asp)
|
|
|
NM_003072.5(SMARCA4):c.4141G>A (p.Asp1381Asn)
|
rs2075186524
|
|
NM_003072.5(SMARCA4):c.4148_4159del (p.Leu1383_Lys1386del)
|
|
|
NM_003072.5(SMARCA4):c.414C>T (p.Gly138=)
|
rs1568421853
|
|
NM_003072.5(SMARCA4):c.4155G>C (p.Glu1385Asp)
|
rs1600407349
|
|
NM_003072.5(SMARCA4):c.4170+4C>T
|
rs1600407451
|
|
NM_003072.5(SMARCA4):c.4170+5A>T
|
|
|
NM_003072.5(SMARCA4):c.4170+6T>C
|
rs1060502065
|
|
NM_003072.5(SMARCA4):c.4171-1749G>T
|
rs1000417349
|
|
NM_003072.5(SMARCA4):c.4171-1751G>T
|
rs1555787264
|
|
NM_003072.5(SMARCA4):c.4171-1768A>T
|
rs2075457834
|
|
NM_003072.5(SMARCA4):c.4171-1770G>C
|
rs772645133
|
|
NM_003072.5(SMARCA4):c.4171-1770G>T
|
rs772645133
|
|
NM_003072.5(SMARCA4):c.4171-1774T>A
|
rs1600446408
|
|
NM_003072.5(SMARCA4):c.4171-1782G>T
|
rs2075456219
|
|
NM_003072.5(SMARCA4):c.4171-1789C>T
|
rs2075455200
|
|
NM_003072.5(SMARCA4):c.4171-1790C>A
|
rs1481819938
|
|
NM_003072.5(SMARCA4):c.4171-1791T>A
|
rs1391604700
|
|
NM_003072.5(SMARCA4):c.4171-1807G>T
|
rs2075452756
|
|
NM_003072.5(SMARCA4):c.4171-1821C>G
|
rs1600445482
|
|
NM_003072.5(SMARCA4):c.4171-1842C>T
|
rs2075449703
|
|
NM_003072.5(SMARCA4):c.4171-1860T>G
|
|
|
NM_003072.5(SMARCA4):c.4171-1861A>G
|
rs771462690
|
|
NM_003072.5(SMARCA4):c.4171-3A>G
|
rs2146812535
|
|
NM_003072.5(SMARCA4):c.4174A>G (p.Ile1392Val)
|
|
|
NM_003072.5(SMARCA4):c.4177G>A (p.Glu1393Lys)
|
rs752264295
|
|
NM_003072.5(SMARCA4):c.4180G>A (p.Glu1394Lys)
|
rs1238368623
|
|
NM_003072.5(SMARCA4):c.4189C>A (p.Leu1397Met)
|
|
|
NM_003072.5(SMARCA4):c.418T>C (p.Ser140Pro)
|
rs1022140074
|
|
NM_003072.5(SMARCA4):c.4192GAG[1] (p.Glu1399del)
|
|
|
NM_003072.5(SMARCA4):c.4194G>C (p.Glu1398Asp)
|
rs1555788088
|
|
NM_003072.5(SMARCA4):c.4197G>T (p.Glu1399Asp)
|
rs2075597503
|
|
NM_003072.5(SMARCA4):c.419C>A (p.Ser140Tyr)
|
|
|
NM_003072.5(SMARCA4):c.419C>G (p.Ser140Cys)
|
|
|
NM_003072.5(SMARCA4):c.4200C>G (p.Ile1400Met)
|
rs577059244
|
|
NM_003072.5(SMARCA4):c.4200_4201delinsAC (p.Glu1401Gln)
|
|
|
NM_003072.5(SMARCA4):c.4201G>A (p.Glu1401Lys)
|
rs756924224
|
|
NM_003072.5(SMARCA4):c.4204G>A (p.Glu1402Lys)
|
|
|
NM_003072.5(SMARCA4):c.4207G>A (p.Glu1403Lys)
|
rs878854223
|
|
NM_003072.5(SMARCA4):c.4209G>C (p.Glu1403Asp)
|
rs2075598271
|
|
NM_003072.5(SMARCA4):c.4210G>T (p.Val1404Phe)
|
rs1555788108
|
|
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp)
|
rs1057518049
|
|
NM_003072.5(SMARCA4):c.4217A>G (p.Gln1406Arg)
|
rs2075599157
|
|
NM_003072.5(SMARCA4):c.4225T>A (p.Ser1409Thr)
|
|
|
NM_003072.5(SMARCA4):c.4225TCA[1] (p.Ser1410del)
|
rs1600466492
|
|
NM_003072.5(SMARCA4):c.4228T>A (p.Ser1410Thr)
|
rs1282651436
|
|
NM_003072.5(SMARCA4):c.4231C>T (p.Arg1411Trp)
|
rs755455174
|
|
NM_003072.5(SMARCA4):c.4237C>G (p.Arg1413Gly)
|
rs558017726
|
|
NM_003072.5(SMARCA4):c.4238G>A (p.Arg1413His)
|
|
|
NM_003072.5(SMARCA4):c.4238G>C (p.Arg1413Pro)
|
|
|
NM_003072.5(SMARCA4):c.4246G>A (p.Asp1416Asn)
|
|
|
NM_003072.5(SMARCA4):c.4246G>C (p.Asp1416His)
|
rs1600466835
|
|
NM_003072.5(SMARCA4):c.4250G>A (p.Ser1417Asn)
|
rs1158882017
|
|
NM_003072.5(SMARCA4):c.4251C>A (p.Ser1417Arg)
|
rs377057304
|
|
NM_003072.5(SMARCA4):c.4252G>T (p.Asp1418Tyr)
|
rs761083981
|
|
NM_003072.5(SMARCA4):c.4254C>A (p.Asp1418Glu)
|
rs370380553
|
|
NM_003072.5(SMARCA4):c.4256C>T (p.Ala1419Val)
|
rs1413620647
|
|
NM_003072.5(SMARCA4):c.4258G>A (p.Gly1420Ser)
|
rs772153816
|
|
NM_003072.5(SMARCA4):c.4259G>C (p.Gly1420Ala)
|
rs1555788169
|
|
NM_003072.5(SMARCA4):c.4261T>C (p.Ser1421Pro)
|
|
|
NM_003072.5(SMARCA4):c.4265C>T (p.Ser1422Phe)
|
rs2146816731
|
|
NM_003072.5(SMARCA4):c.4267A>G (p.Thr1423Ala)
|
rs1258849439
|
|
NM_003072.5(SMARCA4):c.4267A>T (p.Thr1423Ser)
|
rs1258849439
|
|
NM_003072.5(SMARCA4):c.4270C>G (p.Pro1424Ala)
|
|
|
NM_003072.5(SMARCA4):c.4271C>A (p.Pro1424Gln)
|
|
|
NM_003072.5(SMARCA4):c.4271C>G (p.Pro1424Arg)
|
rs760654888
|
|
NM_003072.5(SMARCA4):c.4274C>T (p.Thr1425Ile)
|
rs1340211412
|
|
NM_003072.5(SMARCA4):c.4274CCA[1] (p.Thr1426del)
|
|
|
NM_003072.5(SMARCA4):c.4276A>G (p.Thr1426Ala)
|
rs1555788214
|
|
NM_003072.5(SMARCA4):c.4279_4284dup (p.Ser1427_Thr1428dup)
|
rs2146817173
|
|
NM_003072.5(SMARCA4):c.427C>T (p.Pro143Ser)
|
rs891010465
|
|
NM_003072.5(SMARCA4):c.4280G>A (p.Ser1427Asn)
|
rs1600467547
|
|
NM_003072.5(SMARCA4):c.4285C>T (p.Arg1429Cys)
|
rs1060502069
|
|
NM_003072.5(SMARCA4):c.4288A>G (p.Ser1430Gly)
|
rs1227801413
|
|
NM_003072.5(SMARCA4):c.4288_4290del (p.Ser1430del)
|
|
|
NM_003072.5(SMARCA4):c.4289G>A (p.Ser1430Asn)
|
rs2075604964
|
|
NM_003072.5(SMARCA4):c.428C>A (p.Pro143His)
|
|
|
NM_003072.5(SMARCA4):c.428C>T (p.Pro143Leu)
|
|
|
NM_003072.5(SMARCA4):c.4290C>A (p.Ser1430Arg)
|
rs879796805
|
|
NM_003072.5(SMARCA4):c.4291C>G (p.Arg1431Gly)
|
rs587778681
|
|
NM_003072.5(SMARCA4):c.4294G>T (p.Asp1432Tyr)
|
|
|
NM_003072.5(SMARCA4):c.4295A>G (p.Asp1432Gly)
|
rs1555788260
|
|
NM_003072.5(SMARCA4):c.4299G>T (p.Lys1433Asn)
|
rs1600467954
|
|
NM_003072.5(SMARCA4):c.4300G>A (p.Asp1434Asn)
|
rs756599243
|
|
NM_003072.5(SMARCA4):c.4301A>G (p.Asp1434Gly)
|
rs777893871
|
|
NM_003072.5(SMARCA4):c.4302C>A (p.Asp1434Glu)
|
rs146747026
|
|
NM_003072.5(SMARCA4):c.4302CGA[1] (p.Asp1435del)
|
rs2075606466
|
|
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn)
|
rs796506759
|
|
NM_003072.5(SMARCA4):c.4305C>G (p.Asp1435Glu)
|
rs771071300
|
|
NM_003072.5(SMARCA4):c.4310G>C (p.Ser1437Thr)
|
rs1402031100
|
|
NM_003072.5(SMARCA4):c.4310G>T (p.Ser1437Ile)
|
rs1402031100
|
|
NM_003072.5(SMARCA4):c.4310_4311delinsAA (p.Ser1437Lys)
|
rs864622722
|
|
NM_003072.5(SMARCA4):c.4315A>C (p.Lys1439Gln)
|
rs2146819016
|
|
NM_003072.5(SMARCA4):c.4316A>G (p.Lys1439Arg)
|
|
|
NM_003072.5(SMARCA4):c.4322A>G (p.Lys1441Arg)
|
rs1555788304
|
|
NM_003072.5(SMARCA4):c.4324A>C (p.Lys1442Gln)
|
|
|
NM_003072.5(SMARCA4):c.432G>T (p.Gln144His)
|
|
|
NM_003072.5(SMARCA4):c.4330G>A (p.Gly1444Arg)
|
|
|
NM_003072.5(SMARCA4):c.4331G>C (p.Gly1444Ala)
|
rs2075609046
|
|
NM_003072.5(SMARCA4):c.4333C>T (p.Arg1445Trp)
|
|
|
NM_003072.5(SMARCA4):c.4334G>A (p.Arg1445Gln)
|
rs1060502068
|
|
NM_003072.5(SMARCA4):c.4336C>T (p.Pro1446Ser)
|
rs1555788318
|
|
NM_003072.5(SMARCA4):c.4337C>T (p.Pro1446Leu)
|
rs760763271
|
|
NM_003072.5(SMARCA4):c.433A>G (p.Met145Val)
|
rs1599949433
|
|
NM_003072.5(SMARCA4):c.433A>T (p.Met145Leu)
|
rs1599949433
|
|
NM_003072.5(SMARCA4):c.4340C>T (p.Pro1447Leu)
|
rs2146820178
|
|
NM_003072.5(SMARCA4):c.4342G>A (p.Ala1448Thr)
|
rs761338885
|
|
NM_003072.5(SMARCA4):c.4342G>C (p.Ala1448Pro)
|
rs761338885
|
|
NM_003072.5(SMARCA4):c.4345G>A (p.Glu1449Lys)
|
rs1568528491
|
|
NM_003072.5(SMARCA4):c.4346A>G (p.Glu1449Gly)
|
rs1060502058
|
|
NM_003072.5(SMARCA4):c.4348A>G (p.Lys1450Glu)
|
rs2146820574
|
|
NM_003072.5(SMARCA4):c.4351C>G (p.Leu1451Val)
|
rs1568528504
|
|
NM_003072.5(SMARCA4):c.4352T>C (p.Leu1451Pro)
|
rs2075610848
|
|
NM_003072.5(SMARCA4):c.4355C>T (p.Ser1452Phe)
|
|
|
NM_003072.5(SMARCA4):c.435G>A (p.Met145Ile)
|
rs766377662
|
|
NM_003072.5(SMARCA4):c.4366C>T (p.Pro1456Ser)
|
rs2146821386
|
|
NM_003072.5(SMARCA4):c.4367C>A (p.Pro1456His)
|
|
|
NM_003072.5(SMARCA4):c.4367C>G (p.Pro1456Arg)
|
rs2075611320
|
|
NM_003072.5(SMARCA4):c.4372C>G (p.Leu1458Val)
|
rs1600469027
|
|
NM_003072.5(SMARCA4):c.4372C>T (p.Leu1458Phe)
|
rs1600469027
|
|
NM_003072.5(SMARCA4):c.4376C>G (p.Thr1459Ser)
|
|
|
NM_003072.5(SMARCA4):c.4376C>T (p.Thr1459Ile)
|
rs1555788341
|
|
NM_003072.5(SMARCA4):c.4378A>G (p.Lys1460Glu)
|
|
|
NM_003072.5(SMARCA4):c.4379A>G (p.Lys1460Arg)
|
rs2075611830
|
|
NM_003072.5(SMARCA4):c.4380G>C (p.Lys1460Asn)
|
rs2146822019
|
|
NM_003072.5(SMARCA4):c.4381A>C (p.Lys1461Gln)
|
|
|
NM_003072.5(SMARCA4):c.4382A>T (p.Lys1461Met)
|
rs1600469070
|
|
NM_003072.5(SMARCA4):c.4388AGA[1] (p.Lys1464del)
|
|
|
NM_003072.5(SMARCA4):c.4389G>T (p.Lys1463Asn)
|
|
|
NM_003072.5(SMARCA4):c.4391A>G (p.Lys1464Arg)
|
rs1555788352
|
|
NM_003072.5(SMARCA4):c.4392G>T (p.Lys1464Asn)
|
rs1600469159
|
|
NM_003072.5(SMARCA4):c.4394T>C (p.Ile1465Thr)
|
rs1377505488
|
|
NM_003072.5(SMARCA4):c.43G>A (p.Gly15Ser)
|
|
|
NM_003072.5(SMARCA4):c.4401T>A (p.Asp1467Glu)
|
|
|
NM_003072.5(SMARCA4):c.4402G>T (p.Ala1468Ser)
|
rs1600469287
|
|
NM_003072.5(SMARCA4):c.4406T>G (p.Val1469Gly)
|
rs2075613392
|
|
NM_003072.5(SMARCA4):c.4417A>G (p.Lys1473Glu)
|
rs878854227
|
|
NM_003072.5(SMARCA4):c.4420G>A (p.Asp1474Asn)
|
rs1555788376
|
|
NM_003072.5(SMARCA4):c.4424+4A>G
|
rs2146823944
|
|
NM_003072.5(SMARCA4):c.4424+5G>A
|
rs756617788
|
|
NM_003072.5(SMARCA4):c.4425-1G>A
|
rs766881255
|
|
NM_003072.5(SMARCA4):c.4425-3C>G
|
rs748738510
|
|
NM_003072.5(SMARCA4):c.4425-3C>T
|
|
|
NM_003072.5(SMARCA4):c.4426A>T (p.Ser1476Cys)
|
|
|
NM_003072.5(SMARCA4):c.4427G>A (p.Ser1476Asn)
|
rs2076659111
|
|
NM_003072.5(SMARCA4):c.4430G>A (p.Ser1477Asn)
|
rs770592452
|
|
NM_003072.5(SMARCA4):c.4430G>C (p.Ser1477Thr)
|
rs770592452
|
|
NM_003072.5(SMARCA4):c.4432G>C (p.Gly1478Arg)
|
rs2093999657
|
|
NM_003072.5(SMARCA4):c.4435C>T (p.Arg1479Cys)
|
rs1458830964
|
|
NM_003072.5(SMARCA4):c.443G>C (p.Gly148Ala)
|
|
|
NM_003072.5(SMARCA4):c.4441C>G (p.Leu1481Val)
|
|
|
NM_003072.5(SMARCA4):c.4444A>G (p.Ser1482Gly)
|
|
|
NM_003072.5(SMARCA4):c.4445G>T (p.Ser1482Ile)
|
rs2076660347
|
|
NM_003072.5(SMARCA4):c.4449G>C (p.Glu1483Asp)
|
rs776843815
|
|
NM_003072.5(SMARCA4):c.4450G>A (p.Val1484Ile)
|
rs1600629958
|
|
NM_003072.5(SMARCA4):c.4451T>C (p.Val1484Ala)
|
|
|
NM_003072.5(SMARCA4):c.4461G>T (p.Gln1487His)
|
|
|
NM_003072.5(SMARCA4):c.4465C>G (p.Pro1489Ala)
|
rs2147086024
|
|
NM_003072.5(SMARCA4):c.4466C>G (p.Pro1489Arg)
|
|
|
NM_003072.5(SMARCA4):c.4468_4485del (p.Ser1490_Pro1495del)
|
rs2076661206
|
|
NM_003072.5(SMARCA4):c.4469C>T (p.Ser1490Leu)
|
rs1329240441
|
|
NM_003072.5(SMARCA4):c.4472G>A (p.Arg1491Gln)
|
rs1388483526
|
|
NM_003072.5(SMARCA4):c.4474A>C (p.Lys1492Gln)
|
rs1060502075
|
|
NM_003072.5(SMARCA4):c.4475A>G (p.Lys1492Arg)
|
rs1188183781
|
|
NM_003072.5(SMARCA4):c.4478A>C (p.Glu1493Ala)
|
rs1568560821
|
|
NM_003072.5(SMARCA4):c.4479G>T (p.Glu1493Asp)
|
rs1568560832
|
|
NM_003072.5(SMARCA4):c.4483C>T (p.Pro1495Ser)
|
|
|
NM_003072.5(SMARCA4):c.4484C>T (p.Pro1495Leu)
|
rs2147086899
|
|
NM_003072.5(SMARCA4):c.448G>A (p.Gly150Arg)
|
rs1555753081
|
|
NM_003072.5(SMARCA4):c.4495G>A (p.Glu1499Lys)
|
rs1555795053
|
|
NM_003072.5(SMARCA4):c.4496A>C (p.Glu1499Ala)
|
rs1555795056
|
|
NM_003072.5(SMARCA4):c.449G>A (p.Gly150Glu)
|
|
|
NM_003072.5(SMARCA4):c.44G>A (p.Gly15Asp)
|
|
|
NM_003072.5(SMARCA4):c.44G>C (p.Gly15Ala)
|
rs1060502077
|
|
NM_003072.5(SMARCA4):c.44G>T (p.Gly15Val)
|
rs1060502077
|
|
NM_003072.5(SMARCA4):c.4504C>T (p.Arg1502Cys)
|
rs1181505860
|
|
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His)
|
rs1555795063
|
|
NM_003072.5(SMARCA4):c.4507A>G (p.Lys1503Glu)
|
|
|
NM_003072.5(SMARCA4):c.4509G>T (p.Lys1503Asn)
|
rs1600630618
|
|
NM_003072.5(SMARCA4):c.4519T>G (p.Phe1507Val)
|
|
|
NM_003072.5(SMARCA4):c.451G>A (p.Gly151Ser)
|
rs962808170
|
|
NM_003072.5(SMARCA4):c.4521C>G (p.Phe1507Leu)
|
rs2147088411
|
|
NM_003072.5(SMARCA4):c.4523A>G (p.Lys1508Arg)
|
rs1400097305
|
|
NM_003072.5(SMARCA4):c.4524G>C (p.Lys1508Asn)
|
|
|
NM_003072.5(SMARCA4):c.4524G>T (p.Lys1508Asn)
|
|
|
NM_003072.5(SMARCA4):c.452G>T (p.Gly151Val)
|
rs755746907
|
|
NM_003072.5(SMARCA4):c.4532A>G (p.Lys1511Arg)
|
rs2076664922
|
|
NM_003072.5(SMARCA4):c.4533+5C>G
|
|
|
NM_003072.5(SMARCA4):c.4533+6C>G
|
rs1311909722
|
|
NM_003072.5(SMARCA4):c.4534-9C>G
|
rs1271762916
|
|
NM_003072.5(SMARCA4):c.4537C>T (p.Arg1513Cys)
|
rs985886104
|
|
NM_003072.5(SMARCA4):c.4538G>A (p.Arg1513His)
|
rs1600635111
|
|
NM_003072.5(SMARCA4):c.4543C>T (p.Arg1515Cys)
|
rs1166347946
|
|
NM_003072.5(SMARCA4):c.4544G>A (p.Arg1515His)
|
rs1555795341
|
|
NM_003072.5(SMARCA4):c.4544G>T (p.Arg1515Leu)
|
rs1555795341
|
|
NM_003072.5(SMARCA4):c.454G>T (p.Ala152Ser)
|
|
|
NM_003072.5(SMARCA4):c.4553A>G (p.Lys1518Arg)
|
rs2147097206
|
|
NM_003072.5(SMARCA4):c.4558C>T (p.Arg1520Cys)
|
rs1057523119
|
|
NM_003072.5(SMARCA4):c.4559G>A (p.Arg1520His)
|
rs1600635365
|
|
NM_003072.5(SMARCA4):c.4561A>G (p.Ser1521Gly)
|
|
|
NM_003072.5(SMARCA4):c.4568A>G (p.Asn1523Ser)
|
rs1555795360
|
|
NM_003072.5(SMARCA4):c.4569C>A (p.Asn1523Lys)
|
rs34389675
|
|
NM_003072.5(SMARCA4):c.4569C>G (p.Asn1523Lys)
|
|
|
NM_003072.5(SMARCA4):c.4570G>A (p.Asp1524Asn)
|
rs2076693372
|
|
NM_003072.5(SMARCA4):c.4573C>A (p.Leu1525Ile)
|
|
|
NM_003072.5(SMARCA4):c.4576G>C (p.Glu1526Gln)
|
|
|
NM_003072.5(SMARCA4):c.4577A>G (p.Glu1526Gly)
|
|
|
NM_003072.5(SMARCA4):c.4578G>C (p.Glu1526Asp)
|
|
|
NM_003072.5(SMARCA4):c.4588A>G (p.Met1530Val)
|
|
|
NM_003072.5(SMARCA4):c.4589T>A (p.Met1530Lys)
|
rs1600635680
|
|
NM_003072.5(SMARCA4):c.4589T>C (p.Met1530Thr)
|
rs1600635680
|
|
NM_003072.5(SMARCA4):c.458C>A (p.Pro153Gln)
|
rs539710314
|
|
NM_003072.5(SMARCA4):c.4590G>A (p.Met1530Ile)
|
rs1555795386
|
|
NM_003072.5(SMARCA4):c.4591C>A (p.Leu1531Ile)
|
rs1555795394
|
|
NM_003072.5(SMARCA4):c.4598G>A (p.Cys1533Tyr)
|
rs2147098389
|
|
NM_003072.5(SMARCA4):c.4602G>C (p.Gln1534His)
|
rs757889804
|
|
NM_003072.5(SMARCA4):c.4606G>A (p.Ala1536Thr)
|
rs2147098587
|
|
NM_003072.5(SMARCA4):c.4607C>T (p.Ala1536Val)
|
|
|
NM_003072.5(SMARCA4):c.4613C>T (p.Thr1538Ile)
|
rs2076695584
|
|
NM_003072.5(SMARCA4):c.461T>C (p.Leu154Pro)
|
rs1236457430
|
|
NM_003072.5(SMARCA4):c.4624G>A (p.Glu1542Lys)
|
rs1057523176
|
|
NM_003072.5(SMARCA4):c.4635+3G>A
|
rs1568562563
|
|
NM_003072.5(SMARCA4):c.4635+5G>A
|
|
|
NM_003072.5(SMARCA4):c.4635+6G>C
|
rs1164626701
|
|
NM_003072.5(SMARCA4):c.4635G>A (p.Leu1545=)
|
rs2147099255
|
|
NM_003072.5(SMARCA4):c.4636-10C>A
|
rs878854228
|
|
NM_003072.5(SMARCA4):c.4636-13T>C
|
|
|
NM_003072.5(SMARCA4):c.4636-3C>A
|
rs1555795859
|
|
NM_003072.5(SMARCA4):c.4636-3C>T
|
rs1555795859
|
|
NM_003072.5(SMARCA4):c.4640A>G (p.Tyr1547Cys)
|
rs1600643435
|
|
NM_003072.5(SMARCA4):c.4646A>C (p.Asp1549Ala)
|
rs2147113068
|
|
NM_003072.5(SMARCA4):c.4647C>G (p.Asp1549Glu)
|
rs1260006751
|
|
NM_003072.5(SMARCA4):c.4649C>T (p.Ser1550Phe)
|
rs1555795874
|
|
NM_003072.5(SMARCA4):c.4651A>T (p.Ile1551Phe)
|
rs2076750711
|
|
NM_003072.5(SMARCA4):c.4654G>A (p.Val1552Ile)
|
rs1555795880
|
|
NM_003072.5(SMARCA4):c.4655T>A (p.Val1552Asp)
|
rs2147113284
|
|
NM_003072.5(SMARCA4):c.4655T>C (p.Val1552Ala)
|
|
|
NM_003072.5(SMARCA4):c.4660C>G (p.Gln1554Glu)
|
|
|
NM_003072.5(SMARCA4):c.4662G>T (p.Gln1554His)
|
|
|
NM_003072.5(SMARCA4):c.4663T>A (p.Ser1555Thr)
|
|
|
NM_003072.5(SMARCA4):c.4663T>G (p.Ser1555Ala)
|
|
|
NM_003072.5(SMARCA4):c.4664C>G (p.Ser1555Trp)
|
rs1057523990
|
|
NM_003072.5(SMARCA4):c.466G>A (p.Gly156Ser)
|
rs954975906
|
|
NM_003072.5(SMARCA4):c.466G>T (p.Gly156Cys)
|
rs954975906
|
|
NM_003072.5(SMARCA4):c.4672A>G (p.Thr1558Ala)
|
rs1060502083
|
|
NM_003072.5(SMARCA4):c.4673_4675del (p.Thr1558del)
|
rs2076751615
|
|
NM_003072.5(SMARCA4):c.4676G>A (p.Ser1559Asn)
|
|
|
NM_003072.5(SMARCA4):c.4678G>A (p.Val1560Met)
|
rs374983142
|
|
NM_003072.5(SMARCA4):c.4678G>C (p.Val1560Leu)
|
rs374983142
|
|
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu)
|
rs374983142
|
|
NM_003072.5(SMARCA4):c.4679T>A (p.Val1560Glu)
|
|
|
NM_003072.5(SMARCA4):c.467G>A (p.Gly156Asp)
|
rs1555753146
|
|
NM_003072.5(SMARCA4):c.467G>T (p.Gly156Val)
|
rs1555753146
|
|
NM_003072.5(SMARCA4):c.4686G>C (p.Gln1562His)
|
rs1600643911
|
|
NM_003072.5(SMARCA4):c.4692C>G (p.Ile1564Met)
|
|
|
NM_003072.5(SMARCA4):c.4693G>A (p.Glu1565Lys)
|
rs1568564514
|
|
NM_003072.5(SMARCA4):c.4696_4698del (p.Lys1566del)
|
rs1375203306
|
|
NM_003072.5(SMARCA4):c.4697A>T (p.Lys1566Met)
|
rs2076752907
|
|
NM_003072.5(SMARCA4):c.4698GGA[1] (p.Glu1567del)
|
rs1555795933
|
|
NM_003072.5(SMARCA4):c.469G>A (p.Ala157Thr)
|
|
|
NM_003072.5(SMARCA4):c.4700A>G (p.Glu1567Gly)
|
rs1310082332
|
|
NM_003072.5(SMARCA4):c.4700A>T (p.Glu1567Val)
|
|
|
NM_003072.5(SMARCA4):c.4702G>A (p.Asp1568Asn)
|
rs1060502099
|
|
NM_003072.5(SMARCA4):c.4704_4718del (p.Asp1568_Gly1572del)
|
rs1568564616
|
|
NM_003072.5(SMARCA4):c.4706A>G (p.Asp1569Gly)
|
rs2147114941
|
|
NM_003072.5(SMARCA4):c.4706A>T (p.Asp1569Val)
|
|
|
NM_003072.5(SMARCA4):c.4709G>A (p.Ser1570Asn)
|
rs966588548
|
|
NM_003072.5(SMARCA4):c.4709G>T (p.Ser1570Ile)
|
rs966588548
|
|
NM_003072.5(SMARCA4):c.470C>T (p.Ala157Val)
|
rs2145775018
|
|
NM_003072.5(SMARCA4):c.4713A>T (p.Glu1571Asp)
|
|
|
NM_003072.5(SMARCA4):c.4714G>A (p.Gly1572Ser)
|
|
|
NM_003072.5(SMARCA4):c.4715G>A (p.Gly1572Asp)
|
|
|
NM_003072.5(SMARCA4):c.4715G>T (p.Gly1572Val)
|
|
|
NM_003072.5(SMARCA4):c.4719G>C (p.Glu1573Asp)
|
rs1306229985
|
|
NM_003072.5(SMARCA4):c.4725T>A (p.Ser1575Arg)
|
|
|
NM_003072.5(SMARCA4):c.4726G>A (p.Glu1576Lys)
|
|
|
NM_003072.5(SMARCA4):c.4728GGA[2] (p.Glu1580del)
|
rs1555795992
|
|
NM_003072.5(SMARCA4):c.4729G>A (p.Glu1577Lys)
|
|
|
NM_003072.5(SMARCA4):c.4732G>A (p.Glu1578Lys)
|
rs1555795999
|
|
NM_003072.5(SMARCA4):c.4732G>C (p.Glu1578Gln)
|
rs1555795999
|
|
NM_003072.5(SMARCA4):c.4734_4751del (p.Glu1579_Glu1584del)
|
|
|
NM_003072.5(SMARCA4):c.4735G>A (p.Glu1579Lys)
|
rs1568564823
|
|
NM_003072.5(SMARCA4):c.4739_4753del (p.Glu1580_Glu1584del)
|
rs2147115638
|
|
NM_003072.5(SMARCA4):c.4741G>A (p.Gly1581Ser)
|
|
|
NM_003072.5(SMARCA4):c.4741G>T (p.Gly1581Cys)
|
rs1600644688
|
|
NM_003072.5(SMARCA4):c.4742G>A (p.Gly1581Asp)
|
|
|
NM_003072.5(SMARCA4):c.4742_4747dup (p.Gly1581_Glu1582dup)
|
rs2055163263
|
|
NM_003072.5(SMARCA4):c.4749G>C (p.Glu1583Asp)
|
rs1205508248
|
|
NM_003072.5(SMARCA4):c.474C>A (p.Asp158Glu)
|
rs1599950027
|
|
NM_003072.5(SMARCA4):c.4753G>A (p.Gly1585Ser)
|
rs2076756606
|
|
NM_003072.5(SMARCA4):c.4754G>C (p.Gly1585Ala)
|
rs148115492
|
|
NM_003072.5(SMARCA4):c.4757C>G (p.Ser1586Cys)
|
rs773055372
|
|
NM_003072.5(SMARCA4):c.4759G>A (p.Glu1587Lys)
|
rs1568564931
|
|
NM_003072.5(SMARCA4):c.475C>T (p.Pro159Ser)
|
rs2145775190
|
|
NM_003072.5(SMARCA4):c.4765G>A (p.Glu1589Lys)
|
rs141826721
|
|
NM_003072.5(SMARCA4):c.4765G>C (p.Glu1589Gln)
|
|
|
NM_003072.5(SMARCA4):c.4768+15_4768+16delinsCA
|
|
|
NM_003072.5(SMARCA4):c.4768+3G>A
|
rs2076757838
|
|
NM_003072.5(SMARCA4):c.4768+5G>A
|
|
|
NM_003072.5(SMARCA4):c.4768T>C (p.Ser1590Pro)
|
rs1555796035
|
|
NM_003072.5(SMARCA4):c.4769-76_4769-11del
|
|
|
NM_003072.5(SMARCA4):c.4769-9C>G
|
rs1457763107
|
|
NM_003072.5(SMARCA4):c.4769C>T (p.Ser1590Phe)
|
rs2076772762
|
|
NM_003072.5(SMARCA4):c.476C>G (p.Pro159Arg)
|
|
|
NM_003072.5(SMARCA4):c.4772G>C (p.Arg1591Pro)
|
rs1356932636
|
|
NM_003072.5(SMARCA4):c.4777G>T (p.Val1593Phe)
|
|
|
NM_003072.5(SMARCA4):c.4781A>G (p.Lys1594Arg)
|
rs1555796197
|
|
NM_003072.5(SMARCA4):c.4784T>G (p.Val1595Gly)
|
rs1600647899
|
|
NM_003072.5(SMARCA4):c.4789A>G (p.Ile1597Val)
|
rs2076773708
|
|
NM_003072.5(SMARCA4):c.478C>A (p.Gln160Lys)
|
rs2145775329
|
|
NM_003072.5(SMARCA4):c.4790T>A (p.Ile1597Asn)
|
|
|
NM_003072.5(SMARCA4):c.4792A>C (p.Lys1598Gln)
|
rs2076773793
|
|
NM_003072.5(SMARCA4):c.4795C>A (p.Leu1599Ile)
|
rs1060502091
|
|
NM_003072.5(SMARCA4):c.4795C>T (p.Leu1599Phe)
|
rs1060502091
|
|
NM_003072.5(SMARCA4):c.4798G>C (p.Gly1600Arg)
|
rs1600648042
|
|
NM_003072.5(SMARCA4):c.479A>G (p.Gln160Arg)
|
rs2145775356
|
|
NM_003072.5(SMARCA4):c.47C>G (p.Pro16Arg)
|
|
|
NM_003072.5(SMARCA4):c.4805A>C (p.Lys1602Thr)
|
rs1485676007
|
|
NM_003072.5(SMARCA4):c.4807_4809del (p.Glu1603del)
|
rs1600648184
|
|
NM_003072.5(SMARCA4):c.4811A>G (p.Lys1604Arg)
|
rs2076775574
|
|
NM_003072.5(SMARCA4):c.4813G>C (p.Ala1605Pro)
|
rs141224876
|
|
NM_003072.5(SMARCA4):c.4814C>T (p.Ala1605Val)
|
rs2076775823
|
|
NM_003072.5(SMARCA4):c.4817A>C (p.Gln1606Pro)
|
rs878854231
|
|
NM_003072.5(SMARCA4):c.481G>T (p.Ala161Ser)
|
rs1295034696
|
|
NM_003072.5(SMARCA4):c.4821C>G (p.Asp1607Glu)
|
rs2076776364
|
|
NM_003072.5(SMARCA4):c.4822dup (p.Arg1608fs)
|
rs2076776472
|
|
NM_003072.5(SMARCA4):c.4825C>A (p.Leu1609Met)
|
rs878854232
|
|
NM_003072.5(SMARCA4):c.4828A>G (p.Lys1610Glu)
|
|
|
NM_003072.5(SMARCA4):c.4829A>C (p.Lys1610Thr)
|
rs1555796263
|
|
NM_003072.5(SMARCA4):c.4831G>A (p.Gly1611Ser)
|
rs2076777557
|
|
NM_003072.5(SMARCA4):c.4834G>T (p.Gly1612Cys)
|
rs372319442
|
|
NM_003072.5(SMARCA4):c.4838G>A (p.Arg1613Gln)
|
rs1568565957
|
|
NM_003072.5(SMARCA4):c.4838GGC[2] (p.Arg1615del)
|
rs1311890122
|
|
NM_003072.5(SMARCA4):c.4839_4848del (p.Arg1614fs)
|
|
|
NM_003072.5(SMARCA4):c.4840C>T (p.Arg1614Trp)
|
rs1568565971
|
|
NM_003072.5(SMARCA4):c.4841G>A (p.Arg1614Gln)
|
rs878854233
|
|
NM_003072.5(SMARCA4):c.4846C>T (p.Pro1616Ser)
|
rs2147125383
|
|
NM_003072.5(SMARCA4):c.4847C>A (p.Pro1616Gln)
|
rs878854234
|
|
NM_003072.5(SMARCA4):c.4847C>G (p.Pro1616Arg)
|
rs878854234
|
|
NM_003072.5(SMARCA4):c.4850G>T (p.Ser1617Ile)
|
rs1600648852
|
|
NM_003072.5(SMARCA4):c.4851C>A (p.Ser1617Arg)
|
rs1568566076
|
|
NM_003072.5(SMARCA4):c.4852C>T (p.Arg1618Ter)
|
rs1306144699
|
|
NM_003072.5(SMARCA4):c.4853G>C (p.Arg1618Pro)
|
rs1029465394
|
|
NM_003072.5(SMARCA4):c.4853G>T (p.Arg1618Leu)
|
rs1029465394
|
|
NM_003072.5(SMARCA4):c.4859C>T (p.Ser1620Phe)
|
rs1600649021
|
|
NM_003072.5(SMARCA4):c.485T>C (p.Leu162Ser)
|
rs2086028307
|
|
NM_003072.5(SMARCA4):c.4861C>G (p.Arg1621Gly)
|
rs955207258
|
|
NM_003072.5(SMARCA4):c.4861C>T (p.Arg1621Ter)
|
rs955207258
|
|
NM_003072.5(SMARCA4):c.4862G>T (p.Arg1621Leu)
|
|
|
NM_003072.5(SMARCA4):c.4865C>A (p.Ala1622Asp)
|
|
|
NM_003072.5(SMARCA4):c.4867A>T (p.Lys1623Ter)
|
|
|
NM_003072.5(SMARCA4):c.4868A>G (p.Lys1623Arg)
|
rs1600649183
|
|
NM_003072.5(SMARCA4):c.4870C>T (p.Pro1624Ser)
|
rs1555796335
|
|
NM_003072.5(SMARCA4):c.4871C>A (p.Pro1624Gln)
|
rs756255060
|
|
NM_003072.5(SMARCA4):c.4871C>G (p.Pro1624Arg)
|
rs756255060
|
|
NM_003072.5(SMARCA4):c.4873G>T (p.Val1625Phe)
|
rs1600649293
|
|
NM_003072.5(SMARCA4):c.4875C>G (p.Val1625=)
|
|
|
NM_003072.5(SMARCA4):c.4876G>C (p.Val1626Leu)
|
|
|
NM_003072.5(SMARCA4):c.4877T>C (p.Val1626Ala)
|
rs2076781393
|
|
NM_003072.5(SMARCA4):c.4880G>A (p.Ser1627Asn)
|
rs2076781506
|
|
NM_003072.5(SMARCA4):c.4887_4888delinsCT (p.Asp1630Tyr)
|
|
|
NM_003072.5(SMARCA4):c.4887_4888inv (p.Asp1630Asn)
|
|
|
NM_003072.5(SMARCA4):c.4887_4889del (p.Asp1630del)
|
rs2147126620
|
|
NM_003072.5(SMARCA4):c.4888G>C (p.Asp1630His)
|
|
|
NM_003072.5(SMARCA4):c.4889A>G (p.Asp1630Gly)
|
rs2147126711
|
|
NM_003072.5(SMARCA4):c.4890C>A (p.Asp1630Glu)
|
rs918621161
|
|
NM_003072.5(SMARCA4):c.4890C>G (p.Asp1630Glu)
|
rs918621161
|
|
NM_003072.5(SMARCA4):c.4891A>T (p.Ser1631Cys)
|
rs1600649575
|
|
NM_003072.5(SMARCA4):c.4894G>A (p.Glu1632Lys)
|
|
|
NM_003072.5(SMARCA4):c.4897G>A (p.Glu1633Lys)
|
rs2076782634
|
|
NM_003072.5(SMARCA4):c.4900G>T (p.Glu1634Ter)
|
|
|
NM_003072.5(SMARCA4):c.4901A>C (p.Glu1634Ala)
|
|
|
NM_003072.5(SMARCA4):c.4902A>C (p.Glu1634Asp)
|
rs2147127066
|
|
NM_003072.5(SMARCA4):c.4903C>T (p.Gln1635Ter)
|
rs2147127094
|
|
NM_003072.5(SMARCA4):c.4904_4905del (p.Gln1635fs)
|
rs2147127143
|
|
NM_003072.5(SMARCA4):c.4905A>C (p.Gln1635His)
|
rs908806258
|
|
NM_003072.5(SMARCA4):c.4906G>A (p.Glu1636Lys)
|
|
|
NM_003072.5(SMARCA4):c.4909_4910delinsTT (p.Glu1637Leu)
|
rs1600649855
|
|
NM_003072.5(SMARCA4):c.490C>G (p.Gln164Glu)
|
|
|
NM_003072.5(SMARCA4):c.4910_4911+1del
|
rs745740277
|
|
NM_003072.5(SMARCA4):c.4911+3G>A
|
rs2076783963
|
|
NM_003072.5(SMARCA4):c.4911+6G>T
|
rs878854235
|
|
NM_003072.5(SMARCA4):c.4911G>A (p.Glu1637=)
|
rs2147127404
|
|
NM_003072.5(SMARCA4):c.4912-2A>G
|
rs2147157781
|
|
NM_003072.5(SMARCA4):c.4912G>A (p.Asp1638Asn)
|
|
|
NM_003072.5(SMARCA4):c.4916G>T (p.Arg1639Leu)
|
rs867536416
|
|
NM_003072.5(SMARCA4):c.4918T>A (p.Ser1640Thr)
|
rs1568570437
|
|
NM_003072.5(SMARCA4):c.4918T>C (p.Ser1640Pro)
|
rs1568570437
|
|
NM_003072.5(SMARCA4):c.4919C>G (p.Ser1640Ter)
|
|
|
NM_003072.5(SMARCA4):c.4919C>T (p.Ser1640Leu)
|
rs1345181111
|
|
NM_003072.5(SMARCA4):c.4921G>C (p.Gly1641Arg)
|
rs1188692885
|
|
NM_003072.5(SMARCA4):c.4922G>A (p.Gly1641Glu)
|
rs1555797457
|
|
NM_003072.5(SMARCA4):c.4924A>G (p.Ser1642Gly)
|
rs2147158155
|
|
NM_003072.5(SMARCA4):c.4927G>A (p.Gly1643Ser)
|
rs2076917822
|
|
NM_003072.5(SMARCA4):c.492G>T (p.Gln164His)
|
rs1555753201
|
|
NM_003072.5(SMARCA4):c.4933G>A (p.Glu1645Lys)
|
rs1261182514
|
|
NM_003072.5(SMARCA4):c.4935AGA[1] (p.Glu1646del)
|
rs2076918196
|
|
NM_003072.5(SMARCA4):c.4936G>A (p.Glu1646Lys)
|
|
|
NM_003072.5(SMARCA4):c.4939G>T (p.Asp1647Tyr)
|
rs2076918536
|
|
NM_003072.5(SMARCA4):c.4942T>C (p.Ter1648Arg)
|
rs2076918636
|
|
NM_003072.5(SMARCA4):c.4944A>G (p.Ter1648Trp)
|
rs772894995
|
|
NM_003072.5(SMARCA4):c.4944A>T (p.Ter1648Cys)
|
rs772894995
|
|
NM_003072.5(SMARCA4):c.496A>G (p.Asn166Asp)
|
|
|
NM_003072.5(SMARCA4):c.502G>A (p.Gly168Ser)
|
|
|
NM_003072.5(SMARCA4):c.503G>A (p.Gly168Asp)
|
rs1171738627
|
|
NM_003072.5(SMARCA4):c.505C>G (p.Pro169Ala)
|
|
|
NM_003072.5(SMARCA4):c.508A>C (p.Thr170Pro)
|
rs773273784
|
|
NM_003072.5(SMARCA4):c.508A>G (p.Thr170Ala)
|
|
|
NM_003072.5(SMARCA4):c.509C>T (p.Thr170Ile)
|
rs762871878
|
|
NM_003072.5(SMARCA4):c.50C>T (p.Ser17Phe)
|
rs2085806321
|
|
NM_003072.5(SMARCA4):c.511C>A (p.Pro171Thr)
|
rs1599950466
|
|
NM_003072.5(SMARCA4):c.511C>T (p.Pro171Ser)
|
rs1599950466
|
|
NM_003072.5(SMARCA4):c.521A>G (p.Gln174Arg)
|
|
|
NM_003072.5(SMARCA4):c.526C>G (p.Gln176Glu)
|
rs2086031789
|
|
NM_003072.5(SMARCA4):c.529C>G (p.Leu177Val)
|
rs1555753296
|
|
NM_003072.5(SMARCA4):c.532C>T (p.His178Tyr)
|
rs2145777525
|
|
NM_003072.5(SMARCA4):c.534C>G (p.His178Gln)
|
rs759429379
|
|
NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu)
|
rs1060502087
|
|
NM_003072.5(SMARCA4):c.544G>A (p.Ala182Thr)
|
rs1599950706
|
|
NM_003072.5(SMARCA4):c.544G>T (p.Ala182Ser)
|
|
|
NM_003072.5(SMARCA4):c.54_71del (p.14PGPSPG[1])
|
|
|
NM_003072.5(SMARCA4):c.553A>G (p.Met185Val)
|
rs1568422504
|
|
NM_003072.5(SMARCA4):c.557C>T (p.Ala186Val)
|
rs942370486
|
|
NM_003072.5(SMARCA4):c.563A>G (p.Lys188Arg)
|
rs2086034556
|
|
NM_003072.5(SMARCA4):c.565A>T (p.Met189Leu)
|
|
|
NM_003072.5(SMARCA4):c.566T>A (p.Met189Lys)
|
|
|
NM_003072.5(SMARCA4):c.56G>C (p.Gly19Ala)
|
rs1222542093
|
|
NM_003072.5(SMARCA4):c.571G>A (p.Ala191Thr)
|
rs759257627
|
|
NM_003072.5(SMARCA4):c.571G>T (p.Ala191Ser)
|
rs759257627
|
|
NM_003072.5(SMARCA4):c.574A>T (p.Arg192Trp)
|
rs2086035121
|
|
NM_003072.5(SMARCA4):c.575G>A (p.Arg192Lys)
|
rs1599950890
|
|
NM_003072.5(SMARCA4):c.577G>A (p.Gly193Arg)
|
rs1568422547
|
|
NM_003072.5(SMARCA4):c.578G>T (p.Gly193Val)
|
rs767036812
|
|
NM_003072.5(SMARCA4):c.580C>A (p.Gln194Lys)
|
rs1599950960
|
|
NM_003072.5(SMARCA4):c.581A>G (p.Gln194Arg)
|
rs760076866
|
|
NM_003072.5(SMARCA4):c.583C>G (p.Pro195Ala)
|
|
|
NM_003072.5(SMARCA4):c.586C>T (p.Leu196Phe)
|
rs1199851876
|
|
NM_003072.5(SMARCA4):c.589C>A (p.Pro197Thr)
|
|
|
NM_003072.5(SMARCA4):c.590C>T (p.Pro197Leu)
|
rs988231473
|
|
NM_003072.5(SMARCA4):c.592G>A (p.Asp198Asn)
|
rs1195533596
|
|
NM_003072.5(SMARCA4):c.593A>G (p.Asp198Gly)
|
rs2086038072
|
|
NM_003072.5(SMARCA4):c.604A>G (p.Met202Val)
|
rs1599951271
|
|
NM_003072.5(SMARCA4):c.606G>A (p.Met202Ile)
|
rs2086039435
|
|
NM_003072.5(SMARCA4):c.607G>A (p.Ala203Thr)
|
rs2086039624
|
|
NM_003072.5(SMARCA4):c.610G>A (p.Val204Met)
|
rs1599951334
|
|
NM_003072.5(SMARCA4):c.613C>G (p.Gln205Glu)
|
|
|
NM_003072.5(SMARCA4):c.614A>G (p.Gln205Arg)
|
rs2086040527
|
|
NM_003072.5(SMARCA4):c.626C>G (p.Pro209Arg)
|
rs778071122
|
|
NM_003072.5(SMARCA4):c.628A>C (p.Met210Leu)
|
rs2086042007
|
|
NM_003072.5(SMARCA4):c.628A>T (p.Met210Leu)
|
|
|
NM_003072.5(SMARCA4):c.629T>A (p.Met210Lys)
|
rs749404527
|
|
NM_003072.5(SMARCA4):c.630G>A (p.Met210Ile)
|
rs1043452739
|
|
NM_003072.5(SMARCA4):c.630G>C (p.Met210Ile)
|
rs1043452739
|
|
NM_003072.5(SMARCA4):c.631C>G (p.Pro211Ala)
|
rs2145781120
|
|
NM_003072.5(SMARCA4):c.631C>T (p.Pro211Ser)
|
rs2145781120
|
|
NM_003072.5(SMARCA4):c.634G>A (p.Gly212Arg)
|
rs886937766
|
|
NM_003072.5(SMARCA4):c.637A>G (p.Met213Val)
|
rs2145781361
|
|
NM_003072.5(SMARCA4):c.639G>A (p.Met213Ile)
|
|
|
NM_003072.5(SMARCA4):c.640CAG[2] (p.Gln216del)
|
rs2086043699
|
|
NM_003072.5(SMARCA4):c.648G>T (p.Gln216His)
|
|
|
NM_003072.5(SMARCA4):c.649A>G (p.Met217Val)
|
rs2145781758
|
|
NM_003072.5(SMARCA4):c.64C>G (p.Pro22Ala)
|
|
|
NM_003072.5(SMARCA4):c.64C>T (p.Pro22Ser)
|
rs2085807805
|
|
NM_003072.5(SMARCA4):c.652C>G (p.Pro218Ala)
|
rs1220576417
|
|
NM_003072.5(SMARCA4):c.652C>T (p.Pro218Ser)
|
rs1220576417
|
|
NM_003072.5(SMARCA4):c.659T>C (p.Leu220Pro)
|
rs1057422480
|
|
NM_003072.5(SMARCA4):c.65C>A (p.Pro22His)
|
rs1227659334
|
|
NM_003072.5(SMARCA4):c.65C>G (p.Pro22Arg)
|
rs1227659334
|
|
NM_003072.5(SMARCA4):c.661C>T (p.Pro221Ser)
|
rs1417452362
|
|
NM_003072.5(SMARCA4):c.662C>A (p.Pro221His)
|
rs1599952032
|
|
NM_003072.5(SMARCA4):c.662C>T (p.Pro221Leu)
|
rs1599952032
|
|
NM_003072.5(SMARCA4):c.667C>T (p.Pro223Ser)
|
|
|
NM_003072.5(SMARCA4):c.668C>T (p.Pro223Leu)
|
rs2145782523
|
|
NM_003072.5(SMARCA4):c.674T>C (p.Val225Ala)
|
|
|
NM_003072.5(SMARCA4):c.677C>G (p.Ser226Cys)
|
|
|
NM_003072.5(SMARCA4):c.678C>A (p.Ser226=)
|
rs878854237
|
|
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr)
|
rs769096295
|
|
NM_003072.5(SMARCA4):c.680C>T (p.Ala227Val)
|
rs1599952268
|
|
NM_003072.5(SMARCA4):c.683C>A (p.Thr228Lys)
|
rs2145783138
|
|
NM_003072.5(SMARCA4):c.684_707dup (p.229GP[12])
|
rs754049390
|
|
NM_003072.5(SMARCA4):c.684_731dup (p.Pro244_Ala245insGlyProGlyProGlyProGlyProGlyProGlyProGlyProGlyPro)
|
|
|
NM_003072.5(SMARCA4):c.686G>C (p.Gly229Ala)
|
rs2086048500
|
|
NM_003072.5(SMARCA4):c.688C>A (p.Pro230Thr)
|
rs760294422
|
|
NM_003072.5(SMARCA4):c.688C>T (p.Pro230Ser)
|
rs760294422
|
|
NM_003072.5(SMARCA4):c.68C>A (p.Ser23Tyr)
|
rs1555750712
|
|
NM_003072.5(SMARCA4):c.68C>G (p.Ser23Cys)
|
rs1555750712
|
|
NM_003072.5(SMARCA4):c.68C>T (p.Ser23Phe)
|
rs1555750712
|
|
NM_003072.5(SMARCA4):c.691G>T (p.Gly231Cys)
|
rs555467836
|
|
NM_003072.5(SMARCA4):c.692G>T (p.Gly231Val)
|
|
|
NM_003072.5(SMARCA4):c.692_693insGCCTGG (p.229GP[9])
|
rs2145783521
|
|
NM_003072.5(SMARCA4):c.694_695insTTGGCC (p.Gly231_Pro232insLeuGly)
|
rs1555753619
|
|
NM_003072.5(SMARCA4):c.695C>G (p.Pro232Arg)
|
rs1314009255
|
|
NM_003072.5(SMARCA4):c.695_696insGGGCCC (p.229GP[9])
|
rs1555753627
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[2] (p.229GP[7])
|
rs372601826
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[4] (p.229GP[9])
|
rs372601826
|
|
NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10])
|
rs372601826
|
|
NM_003072.5(SMARCA4):c.696_719del (p.229GP[4])
|
rs1568423251
|
|
NM_003072.5(SMARCA4):c.696_719dup (p.229_230GP[12])
|
rs1568423251
|
|
NM_003072.5(SMARCA4):c.696_731del (p.229GP[2])
|
rs1599952392
|
|
NM_003072.5(SMARCA4):c.698G>A (p.Gly233Asp)
|
rs878854238
|
|
NM_003072.5(SMARCA4):c.698G>C (p.Gly233Ala)
|
|
|
NM_003072.5(SMARCA4):c.698_699insACCTGG (p.229GP[9])
|
rs2086051201
|
|
NM_003072.5(SMARCA4):c.699_722del (p.229GP[4])
|
rs1599952661
|
|
NM_003072.5(SMARCA4):c.701C>G (p.Pro234Arg)
|
rs572494136
|
|
NM_003072.5(SMARCA4):c.701C>T (p.Pro234Leu)
|
rs572494136
|
|
NM_003072.5(SMARCA4):c.702_719dup (p.229GP[11])
|
rs2086051828
|
|
NM_003072.5(SMARCA4):c.702_725del (p.229GP[4])
|
|
|
NM_003072.5(SMARCA4):c.704G>A (p.Gly235Asp)
|
rs1240479086
|
|
NM_003072.5(SMARCA4):c.705_707dup (p.Pro236dup)
|
rs2086054549
|
|
NM_003072.5(SMARCA4):c.707C>T (p.Pro236Leu)
|
rs1555753713
|
|
NM_003072.5(SMARCA4):c.708_719del (p.229GP[6])
|
rs1555753680
|
|
NM_003072.5(SMARCA4):c.708_719dup (p.229GP[10])
|
rs1555753680
|
|
NM_003072.5(SMARCA4):c.708_731del (p.229_230GP[4])
|
rs1555753690
|
|
NM_003072.5(SMARCA4):c.708_731dup (p.229GP[12])
|
rs1555753690
|
|
NM_003072.5(SMARCA4):c.709G>A (p.Gly237Ser)
|
rs1555753727
|
|
NM_003072.5(SMARCA4):c.70C>G (p.Pro24Ala)
|
rs1060502057
|
|
NM_003072.5(SMARCA4):c.70C>T (p.Pro24Ser)
|
rs1060502057
|
|
NM_003072.5(SMARCA4):c.713_714inv (p.Pro238Arg)
|
|
|
NM_003072.5(SMARCA4):c.714_719del (p.229GP[7])
|
rs1555753732
|
|
NM_003072.5(SMARCA4):c.714_719dup (p.229GP[9])
|
rs1555753732
|
|
NM_003072.5(SMARCA4):c.714_731dup (p.229GP[11])
|
rs1568423542
|
|
NM_003072.5(SMARCA4):c.715G>T (p.Gly239Cys)
|
rs761515593
|
|
NM_003072.5(SMARCA4):c.716G>T (p.Gly239Val)
|
rs1161508952
|
|
NM_003072.5(SMARCA4):c.719_720insTGGCCCTGGCCCCGGCCCGGGTCCCGGCCC (p.229GP[13])
|
rs2086056046
|
|
NM_003072.5(SMARCA4):c.71C>G (p.Pro24Arg)
|
rs772230026
|
|
NM_003072.5(SMARCA4):c.721G>A (p.Gly241Ser)
|
|
|
NM_003072.5(SMARCA4):c.721G>T (p.Gly241Cys)
|
rs1599953263
|
|
NM_003072.5(SMARCA4):c.722_733dup (p.229GP[10])
|
rs568390760
|
|
NM_003072.5(SMARCA4):c.724C>T (p.Pro242Ser)
|
rs1555753773
|
|
NM_003072.5(SMARCA4):c.725C>T (p.Pro242Leu)
|
rs2145785202
|
|
NM_003072.5(SMARCA4):c.726_731dup (p.229_230GP[9])
|
rs2086059171
|
|
NM_003072.5(SMARCA4):c.730C>T (p.Pro244Ser)
|
rs2145785383
|
|
NM_003072.5(SMARCA4):c.731C>G (p.Pro244Arg)
|
rs587778683
|
|
NM_003072.5(SMARCA4):c.733G>A (p.Ala245Thr)
|
rs2086060359
|
|
NM_003072.5(SMARCA4):c.734C>T (p.Ala245Val)
|
|
|
NM_003072.5(SMARCA4):c.736C>A (p.Pro246Thr)
|
rs1555753804
|
|
NM_003072.5(SMARCA4):c.736C>T (p.Pro246Ser)
|
rs1555753804
|
|
NM_003072.5(SMARCA4):c.737_738insCGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACC (p.Pro246_Pro247insGlyProGlyProGlyProGlyProGlyProGlyProAlaPro)
|
|
|
NM_003072.5(SMARCA4):c.739C>T (p.Pro247Ser)
|
|
|
NM_003072.5(SMARCA4):c.73G>A (p.Gly25Arg)
|
rs1568416887
|
|
NM_003072.5(SMARCA4):c.742A>G (p.Asn248Asp)
|
rs1599953506
|
|
NM_003072.5(SMARCA4):c.743A>G (p.Asn248Ser)
|
rs1568423807
|
|
NM_003072.5(SMARCA4):c.749G>A (p.Ser250Asn)
|
|
|
NM_003072.5(SMARCA4):c.74_76del (p.Gly25del)
|
rs1568416902
|
|
NM_003072.5(SMARCA4):c.750C>T (p.Ser250=)
|
rs1242616857
|
|
NM_003072.5(SMARCA4):c.752G>C (p.Arg251Thr)
|
rs1599953658
|
|
NM_003072.5(SMARCA4):c.753G>T (p.Arg251Ser)
|
rs2145786174
|
|
NM_003072.5(SMARCA4):c.758A>G (p.His253Arg)
|
rs2086063382
|
|
NM_003072.5(SMARCA4):c.760+4A>G
|
rs1213865421
|
|
NM_003072.5(SMARCA4):c.760G>A (p.Gly254Ser)
|
rs1060502071
|
|
NM_003072.5(SMARCA4):c.761-3T>C
|
|
|
NM_003072.5(SMARCA4):c.761-3T>G
|
rs1555754119
|
|
NM_003072.5(SMARCA4):c.761G>T (p.Gly254Val)
|
|
|
NM_003072.5(SMARCA4):c.765G>A (p.Met255Ile)
|
rs2145795052
|
|
NM_003072.5(SMARCA4):c.767G>A (p.Gly256Glu)
|
|
|
NM_003072.5(SMARCA4):c.770G>A (p.Gly257Glu)
|
rs1343719999
|
|
NM_003072.5(SMARCA4):c.770G>T (p.Gly257Val)
|
|
|
NM_003072.5(SMARCA4):c.775A>C (p.Asn259His)
|
rs764641221
|
|
NM_003072.5(SMARCA4):c.778A>G (p.Met260Val)
|
rs1064795842
|
|
NM_003072.5(SMARCA4):c.77C>T (p.Ala26Val)
|
rs1599928845
|
|
NM_003072.5(SMARCA4):c.780G>A (p.Met260Ile)
|
rs753962571
|
|
NM_003072.5(SMARCA4):c.782C>A (p.Pro261His)
|
rs757327891
|
|
NM_003072.5(SMARCA4):c.782C>T (p.Pro261Leu)
|
rs757327891
|
|
NM_003072.5(SMARCA4):c.790G>A (p.Gly264Arg)
|
rs746036083
|
|
NM_003072.5(SMARCA4):c.791G>A (p.Gly264Glu)
|
rs797045988
|
|
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala)
|
rs797045988
|
|
NM_003072.5(SMARCA4):c.791G>T (p.Gly264Val)
|
rs797045988
|
|
NM_003072.5(SMARCA4):c.792_812dup (p.Gly271_Met272insProSerGlyValProProGly)
|
|
|
NM_003072.5(SMARCA4):c.793C>T (p.Pro265Ser)
|
rs2145796084
|
|
NM_003072.5(SMARCA4):c.794C>A (p.Pro265His)
|
|
|
NM_003072.5(SMARCA4):c.794C>T (p.Pro265Leu)
|
|
|
NM_003072.5(SMARCA4):c.797C>G (p.Ser266Trp)
|
|
|
NM_003072.5(SMARCA4):c.799G>A (p.Gly267Ser)
|
rs2086105423
|
|
NM_003072.5(SMARCA4):c.7A>C (p.Thr3Pro)
|
rs1599927930
|
|
NM_003072.5(SMARCA4):c.7A>G (p.Thr3Ala)
|
|
|
NM_003072.5(SMARCA4):c.800G>A (p.Gly267Asp)
|
rs746986969
|
|
NM_003072.5(SMARCA4):c.800G>T (p.Gly267Val)
|
|
|
NM_003072.5(SMARCA4):c.803T>C (p.Val268Ala)
|
rs1568424854
|
|
NM_003072.5(SMARCA4):c.803T>G (p.Val268Gly)
|
rs1568424854
|
|
NM_003072.5(SMARCA4):c.803_811del (p.Val268_Pro270del)
|
rs1555754225
|
|
NM_003072.5(SMARCA4):c.806C>T (p.Pro269Leu)
|
rs2145796622
|
|
NM_003072.5(SMARCA4):c.808C>G (p.Pro270Ala)
|
rs1599957743
|
|
NM_003072.5(SMARCA4):c.808C>T (p.Pro270Ser)
|
rs1599957743
|
|
NM_003072.5(SMARCA4):c.809C>G (p.Pro270Arg)
|
rs1568424897
|
|
NM_003072.5(SMARCA4):c.809C>T (p.Pro270Leu)
|
rs1568424897
|
|
NM_003072.5(SMARCA4):c.80T>C (p.Met27Thr)
|
|
|
NM_003072.5(SMARCA4):c.812G>A (p.Gly271Glu)
|
|
|
NM_003072.5(SMARCA4):c.812G>C (p.Gly271Ala)
|
|
|
NM_003072.5(SMARCA4):c.812G>T (p.Gly271Val)
|
|
|
NM_003072.5(SMARCA4):c.814A>G (p.Met272Val)
|
rs1432832082
|
|
NM_003072.5(SMARCA4):c.820G>C (p.Gly274Arg)
|
|
|
NM_003072.5(SMARCA4):c.826C>A (p.Pro276Thr)
|
rs1238171014
|
|
NM_003072.5(SMARCA4):c.826C>T (p.Pro276Ser)
|
|
|
NM_003072.5(SMARCA4):c.827C>T (p.Pro276Leu)
|
rs2145797391
|
|
NM_003072.5(SMARCA4):c.82C>A (p.Leu28Met)
|
rs776688705
|
|
NM_003072.5(SMARCA4):c.830C>T (p.Pro277Leu)
|
|
|
NM_003072.5(SMARCA4):c.836G>T (p.Gly279Val)
|
|
|
NM_003072.5(SMARCA4):c.838C>G (p.Pro280Ala)
|
|
|
NM_003072.5(SMARCA4):c.83_94del (p.Leu28_Ser31del)
|
rs2145722640
|
|
NM_003072.5(SMARCA4):c.841C>T (p.Pro281Ser)
|
|
|
NM_003072.5(SMARCA4):c.842C>T (p.Pro281Leu)
|
|
|
NM_003072.5(SMARCA4):c.846G>T (p.Lys282Asn)
|
rs1263337559
|
|
NM_003072.5(SMARCA4):c.848C>T (p.Pro283Leu)
|
rs1568425141
|
|
NM_003072.5(SMARCA4):c.853C>T (p.Pro285Ser)
|
rs763957291
|
|
NM_003072.5(SMARCA4):c.854C>T (p.Pro285Leu)
|
|
|
NM_003072.5(SMARCA4):c.856G>A (p.Glu286Lys)
|
|
|
NM_003072.5(SMARCA4):c.858A>G (p.Glu286=)
|
|
|
NM_003072.5(SMARCA4):c.858A>T (p.Glu286Asp)
|
rs2145798320
|
|
NM_003072.5(SMARCA4):c.859+3G>A
|
rs1599958336
|
|
NM_003072.5(SMARCA4):c.859+5G>C
|
|
|
NM_003072.5(SMARCA4):c.859+6C>T
|
rs1185878570
|
|
NM_003072.5(SMARCA4):c.859G>C (p.Gly287Arg)
|
|
|
NM_003072.5(SMARCA4):c.860-20G>A
|
|
|
NM_003072.5(SMARCA4):c.860-3C>T
|
rs1158136597
|
|
NM_003072.5(SMARCA4):c.860-4C>G
|
|
|
NM_003072.5(SMARCA4):c.860G>A (p.Gly287Glu)
|
rs2086175577
|
|
NM_003072.5(SMARCA4):c.862C>G (p.Pro288Ala)
|
|
|
NM_003072.5(SMARCA4):c.862C>T (p.Pro288Ser)
|
rs199573401
|
|
NM_003072.5(SMARCA4):c.863C>T (p.Pro288Leu)
|
rs1026742588
|
|
NM_003072.5(SMARCA4):c.865A>T (p.Met289Leu)
|
rs750547893
|
|
NM_003072.5(SMARCA4):c.866T>C (p.Met289Thr)
|
rs878854243
|
|
NM_003072.5(SMARCA4):c.866T>G (p.Met289Arg)
|
|
|
NM_003072.5(SMARCA4):c.867G>T (p.Met289Ile)
|
rs1338574365
|
|
NM_003072.5(SMARCA4):c.868G>A (p.Ala290Thr)
|
|
|
NM_003072.5(SMARCA4):c.86G>A (p.Gly29Asp)
|
rs2145722799
|
|
NM_003072.5(SMARCA4):c.86G>T (p.Gly29Val)
|
|
|
NM_003072.5(SMARCA4):c.871A>G (p.Asn291Asp)
|
rs1555754777
|
|
NM_003072.5(SMARCA4):c.872A>G (p.Asn291Ser)
|
rs751791309
|
|
NM_003072.5(SMARCA4):c.874G>A (p.Ala292Thr)
|
|
|
NM_003072.5(SMARCA4):c.875C>G (p.Ala292Gly)
|
|
|
NM_003072.5(SMARCA4):c.877G>A (p.Ala293Thr)
|
rs754742854
|
|
NM_003072.5(SMARCA4):c.880G>T (p.Ala294Ser)
|
rs1599966074
|
|
NM_003072.5(SMARCA4):c.881C>T (p.Ala294Val)
|
|
|
NM_003072.5(SMARCA4):c.883C>G (p.Pro295Ala)
|
rs970190031
|
|
NM_003072.5(SMARCA4):c.884C>T (p.Pro295Leu)
|
|
|
NM_003072.5(SMARCA4):c.88C>T (p.Pro30Ser)
|
rs1599928968
|
|
NM_003072.5(SMARCA4):c.891C>A (p.Ser297Arg)
|
|
|
NM_003072.5(SMARCA4):c.892A>G (p.Thr298Ala)
|
rs878854244
|
|
NM_003072.5(SMARCA4):c.892A>T (p.Thr298Ser)
|
rs878854244
|
|
NM_003072.5(SMARCA4):c.893C>T (p.Thr298Ile)
|
rs748459210
|
|
NM_003072.5(SMARCA4):c.895C>T (p.Pro299Ser)
|
rs2086180113
|
|
NM_003072.5(SMARCA4):c.896C>A (p.Pro299His)
|
|
|
NM_003072.5(SMARCA4):c.896C>T (p.Pro299Leu)
|
rs770464856
|
|
NM_003072.5(SMARCA4):c.8C>A (p.Thr3Asn)
|
|
|
NM_003072.5(SMARCA4):c.8C>T (p.Thr3Ile)
|
rs1339941779
|
|
NM_003072.5(SMARCA4):c.904C>A (p.Leu302Met)
|
|
|
NM_003072.5(SMARCA4):c.907A>G (p.Ile303Val)
|
|
|
NM_003072.5(SMARCA4):c.910C>A (p.Pro304Thr)
|
|
|
NM_003072.5(SMARCA4):c.910C>G (p.Pro304Ala)
|
rs745462998
|
|
NM_003072.5(SMARCA4):c.910C>T (p.Pro304Ser)
|
|
|
NM_003072.5(SMARCA4):c.911C>A (p.Pro304His)
|
rs2086181376
|
|
NM_003072.5(SMARCA4):c.914C>G (p.Pro305Arg)
|
rs138097741
|
|
NM_003072.5(SMARCA4):c.915_916delinsCA (p.Gln306Lys)
|
rs1568426539
|
|
NM_003072.5(SMARCA4):c.918G>C (p.Gln306His)
|
|
|
NM_003072.5(SMARCA4):c.920C>T (p.Pro307Leu)
|
rs762139955
|
|
NM_003072.5(SMARCA4):c.923C>T (p.Thr308Met)
|
rs770322996
|
|
NM_003072.5(SMARCA4):c.928C>T (p.Arg310Cys)
|
rs1555754899
|
|
NM_003072.5(SMARCA4):c.929G>C (p.Arg310Pro)
|
rs766422429
|
|
NM_003072.5(SMARCA4):c.931C>T (p.Pro311Ser)
|
rs1323531288
|
|
NM_003072.5(SMARCA4):c.935C>A (p.Ser312Tyr)
|
rs767826277
|
|
NM_003072.5(SMARCA4):c.937C>G (p.Pro313Ala)
|
|
|
NM_003072.5(SMARCA4):c.938C>T (p.Pro313Leu)
|
|
|
NM_003072.5(SMARCA4):c.940G>C (p.Ala314Pro)
|
|
|
NM_003072.5(SMARCA4):c.940_941delinsTT (p.Ala314Leu)
|
rs2145816680
|
|
NM_003072.5(SMARCA4):c.944C>A (p.Pro315His)
|
|
|
NM_003072.5(SMARCA4):c.944C>T (p.Pro315Leu)
|
rs1170997392
|
|
NM_003072.5(SMARCA4):c.948T>A (p.Pro316=)
|
rs1599968129
|
|
NM_003072.5(SMARCA4):c.949G>A (p.Ala317Thr)
|
|
|
NM_003072.5(SMARCA4):c.950_951delinsTT (p.Ala317Val)
|
|
|
NM_003072.5(SMARCA4):c.951C>A (p.Ala317=)
|
rs377511733
|
|
NM_003072.5(SMARCA4):c.955C>T (p.Pro319Ser)
|
rs1555755005
|
|
NM_003072.5(SMARCA4):c.959C>T (p.Pro320Leu)
|
rs1060502062
|
|
NM_003072.5(SMARCA4):c.95C>G (p.Pro32Arg)
|
|
|
NM_003072.5(SMARCA4):c.960_961delinsAA (p.Ala321Thr)
|
rs2145817552
|
|
NM_003072.5(SMARCA4):c.962_973dup (p.Pro324_Val325insAlaAlaSerPro)
|
|
|
NM_003072.5(SMARCA4):c.963C>A (p.Ala321=)
|
rs371214843
|
|
NM_003072.5(SMARCA4):c.964G>A (p.Ala322Thr)
|
rs1060502089
|
|
NM_003072.5(SMARCA4):c.964G>T (p.Ala322Ser)
|
rs1060502089
|
|
NM_003072.5(SMARCA4):c.968C>T (p.Ser323Leu)
|
rs886054151
|
|
NM_003072.5(SMARCA4):c.970C>T (p.Pro324Ser)
|
rs926054421
|
|
NM_003072.5(SMARCA4):c.973G>C (p.Val325Leu)
|
|
|
NM_003072.5(SMARCA4):c.976A>G (p.Met326Val)
|
|
|
NM_003072.5(SMARCA4):c.976A>T (p.Met326Leu)
|
rs1599968988
|
|
NM_003072.5(SMARCA4):c.978G>A (p.Met326Ile)
|
rs1568426962
|
|
NM_003072.5(SMARCA4):c.978G>C (p.Met326Ile)
|
rs1568426962
|
|
NM_003072.5(SMARCA4):c.980C>T (p.Pro327Leu)
|
rs1236526844
|
|
NM_003072.5(SMARCA4):c.983C>A (p.Pro328Gln)
|
|
|
NM_003072.5(SMARCA4):c.987G>C (p.Gln329His)
|
|
|
NM_003072.5(SMARCA4):c.989C>T (p.Thr330Ile)
|
rs1555755082
|
|
NM_003072.5(SMARCA4):c.995C>A (p.Ser332Tyr)
|
rs1013942482
|
|
NM_003072.5(SMARCA4):c.995C>G (p.Ser332Cys)
|
rs1013942482
|
|
NM_003072.5(SMARCA4):c.995C>T (p.Ser332Phe)
|
rs1013942482
|
|
NM_003072.5(SMARCA4):c.997C>T (p.Pro333Ser)
|
rs1599969686
|
|
NM_003073.4(SMARCB1):c.-207-?_*338dup1703
|
|
|
NM_003073.4(SMARCB1):c.987-?_*338dup510
|
|
|
NM_003073.5(SMARCB1):c.*100C>G
|
rs1363655817
|
|
NM_003073.5(SMARCB1):c.*12_*14dup
|
rs779825754
|
|
NM_003073.5(SMARCB1):c.*197A>C
|
rs1306414841
|
|
NM_003073.5(SMARCB1):c.*307A>G
|
rs2030874248
|
|
NM_003073.5(SMARCB1):c.-107A>G
|
rs886057284
|
|
NM_003073.5(SMARCB1):c.-157G>A
|
rs886057281
|
|
NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val)
|
rs1231539032
|
|
NM_003073.5(SMARCB1):c.1118+8T>C
|
rs2030796889
|
|
NM_003073.5(SMARCB1):c.169G>A (p.Val57Met)
|
rs922052006
|
|
NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del)
|
rs769579890
|
|
NM_003073.5(SMARCB1):c.232+59A>G
|
|
|
NM_003073.5(SMARCB1):c.232+5G>A
|
rs1555875932
|
|
NM_003073.5(SMARCB1):c.26C>G (p.Thr9Ser)
|
|
|
NM_003073.5(SMARCB1):c.329T>C (p.Val110Ala)
|
rs1601391157
|
|
NM_003073.5(SMARCB1):c.529C>T (p.His177Tyr)
|
|
|
NM_003073.5(SMARCB1):c.632A>G (p.Lys211Arg)
|
|
|
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)
|
rs1930218305
|
|
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg)
|
rs780906523
|
|
NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr)
|
rs768379745
|
|
NM_003073.5(SMARCB1):c.700G>T (p.Val234Leu)
|
|
|
NM_003073.5(SMARCB1):c.712G>T (p.Ala238Ser)
|
|
|
NM_003073.5(SMARCB1):c.719C>G (p.Ala240Gly)
|
|
|
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)
|
rs752910574
|
|
NM_003073.5(SMARCB1):c.795+5G>A
|
rs199902957
|
|
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu)
|
rs762676176
|
|
NM_003073.5(SMARCB1):c.79A>G (p.Met27Val)
|
rs762676176
|
|
NM_003073.5(SMARCB1):c.93+374A>G
|
|
|
NM_003073.5(SMARCB1):c.967C>A (p.Gln323Lys)
|
rs1265308124
|
|
NM_003073.5(SMARCB1):c.987-4G>C
|
rs745773662
|
|
NM_003242.6(TGFBR2):c.1667A>G (p.Lys556Arg)
|
rs2125455732
|
|
NM_003640.5(ELP1):c.116A>G (p.His39Arg)
|
rs2132052820
|
|
NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr)
|
rs571143526
|
|
NM_003640.5(ELP1):c.1220C>A (p.Thr407Asn)
|
|
|
NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys)
|
rs1829196320
|
|
NM_003640.5(ELP1):c.1436CTC[1] (p.Pro480del)
|
rs746116617
|
|
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
|
|
|
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
|
|
|
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
|
|
|
NM_003640.5(ELP1):c.1613T>C (p.Met538Thr)
|
rs1388151143
|
|
NM_003640.5(ELP1):c.1730A>G (p.Gln577Arg)
|
rs879254309
|
|
NM_003640.5(ELP1):c.1735T>C (p.Phe579Leu)
|
rs199555804
|
|
NM_003640.5(ELP1):c.1940A>T (p.Tyr647Phe)
|
rs1828805989
|
|
NM_003640.5(ELP1):c.2092G>A (p.Val698Ile)
|
rs1828721515
|
|
NM_003640.5(ELP1):c.209G>T (p.Arg70Leu)
|
rs111936933
|
|
NM_003640.5(ELP1):c.2129A>G (p.Gln710Arg)
|
|
|
NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)
|
rs546587836
|
|
NM_003640.5(ELP1):c.2501+4T>G
|
rs1405951778
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met)
|
rs180931232
|
|
NM_003640.5(ELP1):c.2992C>G (p.Gln998Glu)
|
rs1828328786
|
|
NM_003640.5(ELP1):c.3061G>T (p.Ala1021Ser)
|
rs1296107083
|
|
NM_003640.5(ELP1):c.3071C>T (p.Thr1024Ile)
|
|
|
NM_003640.5(ELP1):c.3433A>G (p.Lys1145Glu)
|
|
|
NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)
|
rs202165319
|
|
NM_003640.5(ELP1):c.3572+5G>A
|
rs773132143
|
|
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
|
|
|
NM_003640.5(ELP1):c.3840G>C (p.Gln1280His)
|
|
|
NM_003640.5(ELP1):c.3977G>A (p.Trp1326Ter)
|
rs1554735724
|
|
NM_003640.5(ELP1):c.602G>A (p.Arg201Gln)
|
rs367552387
|
|
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys)
|
rs977172542
|
|
NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser)
|
rs750663365
|
|
NM_003924.3(PHOX2B):c.-159C>T
|
rs887117495
|
|
NM_003924.3(PHOX2B):c.-265G>A
|
rs886059415
|
|
NM_003924.4(PHOX2B):c.*1269A>G
|
rs886059412
|
|
NM_003924.4(PHOX2B):c.*12GCG[8]
|
rs763380864
|
|
NM_003924.4(PHOX2B):c.*1334G>C
|
rs1733823205
|
|
NM_003924.4(PHOX2B):c.*1345G>T
|
rs1560464984
|
|
NM_003924.4(PHOX2B):c.*161G>C
|
rs114290493
|
|
NM_003924.4(PHOX2B):c.*301C>G
|
rs1303150051
|
|
NM_003924.4(PHOX2B):c.*58G>C
|
rs886059413
|
|
NM_003924.4(PHOX2B):c.*680C>G
|
rs1560465172
|
|
NM_003924.4(PHOX2B):c.*789G>A
|
rs1733838098
|
|
NM_003924.4(PHOX2B):c.153T>G (p.Phe51Leu)
|
|
|
NM_003924.4(PHOX2B):c.222G>T (p.Gln74His)
|
rs1577561176
|
|
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)
|
rs1733979302
|
|
NM_003924.4(PHOX2B):c.242-5_242-2dup
|
rs1553898065
|
|
NM_003924.4(PHOX2B):c.26T>A (p.Leu9His)
|
rs2153113080
|
|
NM_003924.4(PHOX2B):c.280G>A (p.Glu94Lys)
|
|
|
NM_003924.4(PHOX2B):c.373A>C (p.Ile125Leu)
|
|
|
NM_003924.4(PHOX2B):c.401A>G (p.Lys134Arg)
|
rs1400901317
|
|
NM_003924.4(PHOX2B):c.475G>T (p.Ala159Ser)
|
rs1162776926
|
|
NM_003924.4(PHOX2B):c.499G>A (p.Ala167Thr)
|
rs1338837491
|
|
NM_003924.4(PHOX2B):c.550A>G (p.Ser184Gly)
|
rs1733894415
|
|
NM_003924.4(PHOX2B):c.556G>A (p.Glu186Lys)
|
rs1560465720
|
|
NM_003924.4(PHOX2B):c.562A>C (p.Lys188Gln)
|
|
|
NM_003924.4(PHOX2B):c.56C>G (p.Ala19Gly)
|
rs1353983410
|
|
NM_003924.4(PHOX2B):c.577G>C (p.Asp193His)
|
rs1577559273
|
|
NM_003924.4(PHOX2B):c.610C>G (p.Pro204Ala)
|
rs1292727082
|
|
NM_003924.4(PHOX2B):c.611C>A (p.Pro204His)
|
|
|
NM_003924.4(PHOX2B):c.614C>G (p.Thr205Ser)
|
|
|
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)
|
rs587778606
|
|
NM_003924.4(PHOX2B):c.625G>A (p.Gly209Arg)
|
|
|
NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup)
|
rs760638643
|
|
NM_003924.4(PHOX2B):c.694C>A (p.Pro232Thr)
|
rs1433654836
|
|
NM_003924.4(PHOX2B):c.694C>G (p.Pro232Ala)
|
rs1433654836
|
|
NM_003924.4(PHOX2B):c.695C>G (p.Pro232Arg)
|
|
|
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
|
rs764470906
|
|
NM_003924.4(PHOX2B):c.742G>A (p.Ala248Thr)
|
|
|
NM_003924.4(PHOX2B):c.745G>T (p.Ala249Ser)
|
|
|
NM_003924.4(PHOX2B):c.767C>T (p.Ala256Val)
|
|
|
NM_003924.4(PHOX2B):c.770C>T (p.Ala257Val)
|
rs2153112760
|
|
NM_003924.4(PHOX2B):c.778G>C (p.Ala260Pro)
|
|
|
NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3])
|
rs752879767
|
|
NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly)
|
|
|
NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu)
|
rs1733870310
|
|
NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg)
|
rs1462459716
|
|
NM_003924.4(PHOX2B):c.872T>A (p.Phe291Tyr)
|
|
|
NM_003924.4(PHOX2B):c.880G>A (p.Val294Ile)
|
|
|
NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr)
|
rs1577558708
|
|
NM_004304.5(ALK):c.*246G>A
|
rs1668908633
|
|
NM_004304.5(ALK):c.*403T>C
|
rs1668903533
|
|
NM_004304.5(ALK):c.*407A>C
|
rs1668903341
|
|
NM_004304.5(ALK):c.-292G>A
|
rs578166431
|
|
NM_004304.5(ALK):c.-312G>T
|
rs886055936
|
|
NM_004304.5(ALK):c.-376G>A
|
rs1254508871
|
|
NM_004304.5(ALK):c.-611G>A
|
rs1667997371
|
|
NM_004304.5(ALK):c.-61C>T
|
rs1052528841
|
|
NM_004304.5(ALK):c.-826C>A
|
rs886055939
|
|
NM_004304.5(ALK):c.-922C>A
|
rs372410498
|
|
NM_004304.5(ALK):c.1001T>A (p.Leu334Gln)
|
rs2148158767
|
|
NM_004304.5(ALK):c.1009T>C (p.Trp337Arg)
|
rs886726765
|
|
NM_004304.5(ALK):c.101C>T (p.Ala34Val)
|
rs1572503974
|
|
NM_004304.5(ALK):c.1021A>G (p.Ser341Gly)
|
rs755433685
|
|
NM_004304.5(ALK):c.1024A>G (p.Ser342Gly)
|
rs973756393
|
|
NM_004304.5(ALK):c.1025G>A (p.Ser342Asn)
|
rs2148158708
|
|
NM_004304.5(ALK):c.1027G>A (p.Glu343Lys)
|
rs1673134817
|
|
NM_004304.5(ALK):c.1029G>T (p.Glu343Asp)
|
rs750010561
|
|
NM_004304.5(ALK):c.1030C>A (p.His344Asn)
|
|
|
NM_004304.5(ALK):c.1031A>G (p.His344Arg)
|
|
|
NM_004304.5(ALK):c.1032C>G (p.His344Gln)
|
|
|
NM_004304.5(ALK):c.1034G>A (p.Cys345Tyr)
|
rs1558370551
|
|
NM_004304.5(ALK):c.1034G>T (p.Cys345Phe)
|
|
|
NM_004304.5(ALK):c.1036A>C (p.Thr346Pro)
|
rs1673134390
|
|
NM_004304.5(ALK):c.1037C>T (p.Thr346Ile)
|
rs981203904
|
|
NM_004304.5(ALK):c.1039C>A (p.Leu347Met)
|
|
|
NM_004304.5(ALK):c.103G>A (p.Gly35Arg)
|
rs2148443908
|
|
NM_004304.5(ALK):c.1043C>T (p.Ala348Val)
|
|
|
NM_004304.5(ALK):c.104G>T (p.Gly35Val)
|
|
|
NM_004304.5(ALK):c.1052T>C (p.Val351Ala)
|
rs1673133219
|
|
NM_004304.5(ALK):c.1056C>G (p.His352Gln)
|
|
|
NM_004304.5(ALK):c.1057A>G (p.Arg353Gly)
|
|
|
NM_004304.5(ALK):c.105_124del (p.Pro36fs)
|
|
|
NM_004304.5(ALK):c.1060C>G (p.His354Asp)
|
rs1490289892
|
|
NM_004304.5(ALK):c.1060C>T (p.His354Tyr)
|
|
|
NM_004304.5(ALK):c.1062C>A (p.His354Gln)
|
|
|
NM_004304.5(ALK):c.1069C>A (p.Pro357Thr)
|
|
|
NM_004304.5(ALK):c.1075G>A (p.Gly359Arg)
|
|
|
NM_004304.5(ALK):c.1075G>C (p.Gly359Arg)
|
rs1673132541
|
|
NM_004304.5(ALK):c.1076G>A (p.Gly359Glu)
|
rs2148158595
|
|
NM_004304.5(ALK):c.1078A>T (p.Arg360Trp)
|
|
|
NM_004304.5(ALK):c.1079G>A (p.Arg360Lys)
|
rs1673132479
|
|
NM_004304.5(ALK):c.107C>A (p.Pro36Gln)
|
rs773691688
|
|
NM_004304.5(ALK):c.107C>G (p.Pro36Arg)
|
rs773691688
|
|
NM_004304.5(ALK):c.1080G>T (p.Arg360Ser)
|
|
|
NM_004304.5(ALK):c.1081T>C (p.Tyr361His)
|
rs2148158586
|
|
NM_004304.5(ALK):c.1083C>A (p.Tyr361Ter)
|
|
|
NM_004304.5(ALK):c.1084A>G (p.Ile362Val)
|
rs1465809492
|
|
NM_004304.5(ALK):c.1085T>C (p.Ile362Thr)
|
rs1265733958
|
|
NM_004304.5(ALK):c.1088C>G (p.Ala363Gly)
|
|
|
NM_004304.5(ALK):c.1099C>T (p.Pro367Ser)
|
rs1312459820
|
|
NM_004304.5(ALK):c.1103A>T (p.His368Leu)
|
rs1673131453
|
|
NM_004304.5(ALK):c.1107C>A (p.Asn369Lys)
|
rs114429299
|
|
NM_004304.5(ALK):c.1112C>A (p.Ala371Asp)
|
|
|
NM_004304.5(ALK):c.1112C>G (p.Ala371Gly)
|
rs1673130758
|
|
NM_004304.5(ALK):c.1114G>C (p.Ala372Pro)
|
rs753549939
|
|
NM_004304.5(ALK):c.1115C>G (p.Ala372Gly)
|
|
|
NM_004304.5(ALK):c.1117A>G (p.Arg373Gly)
|
|
|
NM_004304.5(ALK):c.1119A>C (p.Arg373Ser)
|
|
|
NM_004304.5(ALK):c.1124T>A (p.Ile375Asn)
|
rs929806482
|
|
NM_004304.5(ALK):c.1124T>C (p.Ile375Thr)
|
rs929806482
|
|
NM_004304.5(ALK):c.1126C>T (p.Leu376Phe)
|
rs2148158493
|
|
NM_004304.5(ALK):c.1133T>A (p.Met378Lys)
|
rs1178669386
|
|
NM_004304.5(ALK):c.1133T>G (p.Met378Arg)
|
|
|
NM_004304.5(ALK):c.1135C>T (p.Pro379Ser)
|
|
|
NM_004304.5(ALK):c.1136C>G (p.Pro379Arg)
|
rs2148158462
|
|
NM_004304.5(ALK):c.1139C>G (p.Thr380Ser)
|
rs2148158461
|
|
NM_004304.5(ALK):c.1141C>G (p.Pro381Ala)
|
rs1451908328
|
|
NM_004304.5(ALK):c.1144G>C (p.Gly382Arg)
|
|
|
NM_004304.5(ALK):c.1148A>C (p.Lys383Thr)
|
|
|
NM_004304.5(ALK):c.1154+1G>A
|
rs766100418
|
|
NM_004304.5(ALK):c.1154+5G>A
|
rs2148158406
|
|
NM_004304.5(ALK):c.1154+5G>T
|
|
|
NM_004304.5(ALK):c.1154G>C (p.Gly385Ala)
|
rs774127733
|
|
NM_004304.5(ALK):c.1155-10A>G
|
rs373017069
|
|
NM_004304.5(ALK):c.1155-1G>A
|
rs1573303570
|
|
NM_004304.5(ALK):c.1155-5A>G
|
|
|
NM_004304.5(ALK):c.1155T>A (p.Gly385=)
|
|
|
NM_004304.5(ALK):c.1157G>A (p.Trp386Ter)
|
|
|
NM_004304.5(ALK):c.1160C>G (p.Thr387Arg)
|
rs2148301787
|
|
NM_004304.5(ALK):c.1163T>A (p.Val388Glu)
|
rs1668966196
|
|
NM_004304.5(ALK):c.1165C>T (p.Leu389Phe)
|
|
|
NM_004304.5(ALK):c.116A>C (p.Gln39Pro)
|
|
|
NM_004304.5(ALK):c.1174A>T (p.Arg392Ter)
|
|
|
NM_004304.5(ALK):c.1175G>A (p.Arg392Lys)
|
rs2148301750
|
|
NM_004304.5(ALK):c.1175G>C (p.Arg392Thr)
|
rs2148301750
|
|
NM_004304.5(ALK):c.1179del (p.Ile393fs)
|
rs1668965828
|
|
NM_004304.5(ALK):c.117G>T (p.Gln39His)
|
|
|
NM_004304.5(ALK):c.1183C>A (p.Arg395Ser)
|
rs779282861
|
|
NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)
|
rs779282861
|
|
NM_004304.5(ALK):c.1189G>C (p.Asp397His)
|
rs747810439
|
|
NM_004304.5(ALK):c.118C>G (p.Pro40Ala)
|
rs371679329
|
|
NM_004304.5(ALK):c.1190A>G (p.Asp397Gly)
|
rs368122868
|
|
NM_004304.5(ALK):c.119C>A (p.Pro40His)
|
rs200212200
|
|
NM_004304.5(ALK):c.1201C>T (p.Arg401Ter)
|
rs865931787
|
|
NM_004304.5(ALK):c.1207G>A (p.Ala403Thr)
|
rs1267269954
|
|
NM_004304.5(ALK):c.1208C>A (p.Ala403Asp)
|
rs1060500211
|
|
NM_004304.5(ALK):c.1210C>G (p.Leu404Val)
|
|
|
NM_004304.5(ALK):c.1214A>T (p.Glu405Val)
|
rs1553309548
|
|
NM_004304.5(ALK):c.1219A>T (p.Ile407Phe)
|
|
|
NM_004304.5(ALK):c.121C>T (p.Arg41Trp)
|
rs878854653
|
|
NM_004304.5(ALK):c.1220T>C (p.Ile407Thr)
|
|
|
NM_004304.5(ALK):c.1223C>G (p.Ser408Cys)
|
rs1348960950
|
|
NM_004304.5(ALK):c.1226G>A (p.Ser409Asn)
|
rs2148301582
|
|
NM_004304.5(ALK):c.1229G>A (p.Gly410Glu)
|
rs760717114
|
|
NM_004304.5(ALK):c.1235G>T (p.Arg412Leu)
|
rs1388736375
|
|
NM_004304.5(ALK):c.1242G>C (p.Leu414Phe)
|
|
|
NM_004304.5(ALK):c.1243T>C (p.Ser415Pro)
|
rs1668963051
|
|
NM_004304.5(ALK):c.1246G>A (p.Ala416Thr)
|
rs775917326
|
|
NM_004304.5(ALK):c.1247C>T (p.Ala416Val)
|
rs772529363
|
|
NM_004304.5(ALK):c.1249G>A (p.Val417Met)
|
rs886055931
|
|
NM_004304.5(ALK):c.1249del (p.Val417fs)
|
rs1668962676
|
|
NM_004304.5(ALK):c.124G>C (p.Glu42Gln)
|
rs1553380444
|
|
NM_004304.5(ALK):c.1250T>C (p.Val417Ala)
|
rs2148301479
|
|
NM_004304.5(ALK):c.1252G>C (p.Asp418His)
|
|
|
NM_004304.5(ALK):c.1253A>G (p.Asp418Gly)
|
rs2148301472
|
|
NM_004304.5(ALK):c.1253A>T (p.Asp418Val)
|
|
|
NM_004304.5(ALK):c.1254C>A (p.Asp418Glu)
|
rs1668962410
|
|
NM_004304.5(ALK):c.1258T>C (p.Phe420Leu)
|
|
|
NM_004304.5(ALK):c.1261G>A (p.Ala421Thr)
|
rs2148301460
|
|
NM_004304.5(ALK):c.1261G>T (p.Ala421Ser)
|
|
|
NM_004304.5(ALK):c.1262C>A (p.Ala421Asp)
|
rs1267142388
|
|
NM_004304.5(ALK):c.1262C>T (p.Ala421Val)
|
rs1267142388
|
|
NM_004304.5(ALK):c.1269G>T (p.Lys423Asn)
|
|
|
NM_004304.5(ALK):c.1273T>C (p.Cys425Arg)
|
|
|
NM_004304.5(ALK):c.1273T>G (p.Cys425Gly)
|
rs2148301432
|
|
NM_004304.5(ALK):c.1274G>A (p.Cys425Tyr)
|
rs1318224093
|
|
NM_004304.5(ALK):c.1276A>G (p.Ser426Gly)
|
rs1558300778
|
|
NM_004304.5(ALK):c.1278T>G (p.Ser426Arg)
|
|
|
NM_004304.5(ALK):c.1281A>C (p.Glu427Asp)
|
|
|
NM_004304.5(ALK):c.1282+1G>A
|
|
|
NM_004304.5(ALK):c.1282+3A>G
|
|
|
NM_004304.5(ALK):c.1282+5C>G
|
rs1668960950
|
|
NM_004304.5(ALK):c.1282+6T>C
|
|
|
NM_004304.5(ALK):c.1282G>A (p.Gly428Arg)
|
rs1573303300
|
|
NM_004304.5(ALK):c.1283-1G>A
|
|
|
NM_004304.5(ALK):c.1283G>A (p.Gly428Glu)
|
|
|
NM_004304.5(ALK):c.1283G>T (p.Gly428Val)
|
|
|
NM_004304.5(ALK):c.1288T>A (p.Ser430Thr)
|
rs2148258441
|
|
NM_004304.5(ALK):c.1289C>A (p.Ser430Tyr)
|
rs1667341491
|
|
NM_004304.5(ALK):c.128C>T (p.Pro43Leu)
|
rs78378278
|
|
NM_004304.5(ALK):c.1291C>T (p.Pro431Ser)
|
rs1667341414
|
|
NM_004304.5(ALK):c.1295G>A (p.Gly432Asp)
|
|
|
NM_004304.5(ALK):c.1300A>G (p.Lys434Glu)
|
rs1667341023
|
|
NM_004304.5(ALK):c.1301A>G (p.Lys434Arg)
|
rs1558675795
|
|
NM_004304.5(ALK):c.1305G>A (p.Met435Ile)
|
|
|
NM_004304.5(ALK):c.1306G>A (p.Ala436Thr)
|
rs745772939
|
|
NM_004304.5(ALK):c.1307C>G (p.Ala436Gly)
|
|
|
NM_004304.5(ALK):c.1307C>T (p.Ala436Val)
|
rs1430324218
|
|
NM_004304.5(ALK):c.1310_1311delinsAA (p.Leu437Gln)
|
rs2148258390
|
|
NM_004304.5(ALK):c.1312C>A (p.Gln438Lys)
|
|
|
NM_004304.5(ALK):c.1313A>T (p.Gln438Leu)
|
rs2148258388
|
|
NM_004304.5(ALK):c.1318T>C (p.Ser440Pro)
|
|
|
NM_004304.5(ALK):c.1319C>T (p.Ser440Phe)
|
rs1667340308
|
|
NM_004304.5(ALK):c.131T>C (p.Leu44Pro)
|
rs1304641292
|
|
NM_004304.5(ALK):c.1323_1325del (p.Thr442del)
|
|
|
NM_004304.5(ALK):c.1324A>G (p.Thr442Ala)
|
rs1667340141
|
|
NM_004304.5(ALK):c.1332G>T (p.Trp444Cys)
|
|
|
NM_004304.5(ALK):c.1336G>A (p.Gly446Arg)
|
|
|
NM_004304.5(ALK):c.1340C>A (p.Thr447Lys)
|
|
|
NM_004304.5(ALK):c.1343T>A (p.Val448Asp)
|
rs1425828384
|
|
NM_004304.5(ALK):c.1346T>G (p.Leu449Arg)
|
rs1667339511
|
|
NM_004304.5(ALK):c.134G>C (p.Ser45Thr)
|
rs2148443832
|
|
NM_004304.5(ALK):c.1351C>G (p.Leu451Val)
|
rs199970780
|
|
NM_004304.5(ALK):c.1354G>C (p.Gly452Arg)
|
rs1277320933
|
|
NM_004304.5(ALK):c.1355G>A (p.Gly452Glu)
|
rs2148258315
|
|
NM_004304.5(ALK):c.1357C>G (p.Gln453Glu)
|
|
|
NM_004304.5(ALK):c.1357C>T (p.Gln453Ter)
|
|
|
NM_004304.5(ALK):c.135C>A (p.Ser45Arg)
|
rs1667966785
|
|
NM_004304.5(ALK):c.1360G>A (p.Ala454Thr)
|
rs755089158
|
|
NM_004304.5(ALK):c.1361C>G (p.Ala454Gly)
|
rs766818130
|
|
NM_004304.5(ALK):c.1361C>T (p.Ala454Val)
|
rs766818130
|
|
NM_004304.5(ALK):c.1366G>A (p.Asp456Asn)
|
rs2148258283
|
|
NM_004304.5(ALK):c.1371C>G (p.Phe457Leu)
|
rs2148258267
|
|
NM_004304.5(ALK):c.1372C>G (p.His458Asp)
|
|
|
NM_004304.5(ALK):c.1372C>T (p.His458Tyr)
|
|
|
NM_004304.5(ALK):c.1375C>G (p.Gln459Glu)
|
rs1466204048
|
|
NM_004304.5(ALK):c.1377G>C (p.Gln459His)
|
|
|
NM_004304.5(ALK):c.1378G>A (p.Asp460Asn)
|
|
|
NM_004304.5(ALK):c.1380C>A (p.Asp460Glu)
|
|
|
NM_004304.5(ALK):c.1381del (p.Cys461fs)
|
|
|
NM_004304.5(ALK):c.1382G>A (p.Cys461Tyr)
|
|
|
NM_004304.5(ALK):c.1384G>T (p.Ala462Ser)
|
|
|
NM_004304.5(ALK):c.1387del (p.Gln463fs)
|
rs2148258233
|
|
NM_004304.5(ALK):c.1388A>C (p.Gln463Pro)
|
|
|
NM_004304.5(ALK):c.1388A>G (p.Gln463Arg)
|
|
|
NM_004304.5(ALK):c.1389G>C (p.Gln463His)
|
rs1667338201
|
|
NM_004304.5(ALK):c.1392AGA[1] (p.Glu465del)
|
rs1573239194
|
|
NM_004304.5(ALK):c.1393G>A (p.Glu465Lys)
|
rs1553411110
|
|
NM_004304.5(ALK):c.1396G>A (p.Asp466Asn)
|
rs1667337818
|
|
NM_004304.5(ALK):c.1397A>T (p.Asp466Val)
|
|
|
NM_004304.5(ALK):c.1399G>T (p.Glu467Ter)
|
rs2148258207
|
|
NM_004304.5(ALK):c.139T>G (p.Ser47Ala)
|
rs1402352282
|
|
NM_004304.5(ALK):c.1402A>G (p.Ser468Gly)
|
|
|
NM_004304.5(ALK):c.1403G>A (p.Ser468Asn)
|
rs1573239187
|
|
NM_004304.5(ALK):c.1404C>A (p.Ser468Arg)
|
rs1667337590
|
|
NM_004304.5(ALK):c.1408A>G (p.Met470Val)
|
|
|
NM_004304.5(ALK):c.1414+3G>A
|
|
|
NM_004304.5(ALK):c.1414C>T (p.Arg472Trp)
|
rs749263944
|
|
NM_004304.5(ALK):c.1426G>A (p.Val476Met)
|
rs984951289
|
|
NM_004304.5(ALK):c.1428G>A (p.Val476=)
|
rs1667017111
|
|
NM_004304.5(ALK):c.1429G>T (p.Gly477Cys)
|
|
|
NM_004304.5(ALK):c.142C>A (p.Arg48Ser)
|
rs1060500221
|
|
NM_004304.5(ALK):c.1432T>A (p.Phe478Ile)
|
rs1667016994
|
|
NM_004304.5(ALK):c.1435T>C (p.Tyr479His)
|
rs1400418889
|
|
NM_004304.5(ALK):c.1436A>T (p.Tyr479Phe)
|
|
|
NM_004304.5(ALK):c.143G>C (p.Arg48Pro)
|
|
|
NM_004304.5(ALK):c.143G>T (p.Arg48Leu)
|
|
|
NM_004304.5(ALK):c.1440C>A (p.Cys480Ter)
|
rs1667016608
|
|
NM_004304.5(ALK):c.1443C>A (p.Asn481Lys)
|
rs200448968
|
|
NM_004304.5(ALK):c.1443C>G (p.Asn481Lys)
|
|
|
NM_004304.5(ALK):c.1446T>G (p.Phe482Leu)
|
rs1174777663
|
|
NM_004304.5(ALK):c.1456T>C (p.Phe486Leu)
|
|
|
NM_004304.5(ALK):c.1459T>A (p.Cys487Ser)
|
rs2148251026
|
|
NM_004304.5(ALK):c.1459T>G (p.Cys487Gly)
|
|
|
NM_004304.5(ALK):c.1460G>A (p.Cys487Tyr)
|
rs1667015469
|
|
NM_004304.5(ALK):c.1463G>A (p.Gly488Asp)
|
|
|
NM_004304.5(ALK):c.146T>G (p.Leu49Arg)
|
rs1667966165
|
|
NM_004304.5(ALK):c.1473A>T (p.Gln491His)
|
rs1573227409
|
|
NM_004304.5(ALK):c.1474G>A (p.Gly492Ser)
|
rs1667014493
|
|
NM_004304.5(ALK):c.1474G>C (p.Gly492Arg)
|
rs1667014493
|
|
NM_004304.5(ALK):c.1474G>T (p.Gly492Cys)
|
rs1667014493
|
|
NM_004304.5(ALK):c.1476C>T (p.Gly492=)
|
rs1667014321
|
|
NM_004304.5(ALK):c.1487C>T (p.Pro496Leu)
|
rs1231969163
|
|
NM_004304.5(ALK):c.1489C>T (p.His497Tyr)
|
rs2148250941
|
|
NM_004304.5(ALK):c.1496C>A (p.Pro499His)
|
rs1558669753
|
|
NM_004304.5(ALK):c.1496C>T (p.Pro499Leu)
|
rs1558669753
|
|
NM_004304.5(ALK):c.149A>T (p.Gln50Leu)
|
rs1060500222
|
|
NM_004304.5(ALK):c.1500A>C (p.Gln500His)
|
rs2293564
|
|
NM_004304.5(ALK):c.1502G>T (p.Trp501Leu)
|
rs1667012482
|
|
NM_004304.5(ALK):c.1504C>A (p.Gln502Lys)
|
|
|
NM_004304.5(ALK):c.1504C>T (p.Gln502Ter)
|
rs2148250921
|
|
NM_004304.5(ALK):c.1507G>A (p.Val503Ile)
|
rs1229156257
|
|
NM_004304.5(ALK):c.1511G>A (p.Arg504Lys)
|
rs1667011797
|
|
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro)
|
rs762569153
|
|
NM_004304.5(ALK):c.1519A>C (p.Lys507Gln)
|
|
|
NM_004304.5(ALK):c.1522G>T (p.Asp508Tyr)
|
|
|
NM_004304.5(ALK):c.1525G>C (p.Ala509Pro)
|
rs772615782
|
|
NM_004304.5(ALK):c.1528C>G (p.Arg510Gly)
|
rs201449759
|
|
NM_004304.5(ALK):c.1537G>C (p.Asp513His)
|
|
|
NM_004304.5(ALK):c.1542C>A (p.His514Gln)
|
rs2148250838
|
|
NM_004304.5(ALK):c.1543C>G (p.Gln515Glu)
|
rs1485228012
|
|
NM_004304.5(ALK):c.1544A>G (p.Gln515Arg)
|
|
|
NM_004304.5(ALK):c.1545A>C (p.Gln515His)
|
|
|
NM_004304.5(ALK):c.1545A>G (p.Gln515=)
|
rs2148250832
|
|
NM_004304.5(ALK):c.1546+1G>A
|
rs2148250829
|
|
NM_004304.5(ALK):c.1546+1G>C
|
|
|
NM_004304.5(ALK):c.1546+4C>T
|
rs1553409762
|
|
NM_004304.5(ALK):c.1546+6A>G
|
|
|
NM_004304.5(ALK):c.1546G>A (p.Asp516Asn)
|
|
|
NM_004304.5(ALK):c.1547-1G>A
|
|
|
NM_004304.5(ALK):c.1552G>C (p.Ala518Pro)
|
rs1666897900
|
|
NM_004304.5(ALK):c.1552G>T (p.Ala518Ser)
|
|
|
NM_004304.5(ALK):c.1561C>T (p.Leu521Phe)
|
rs772274018
|
|
NM_004304.5(ALK):c.1562T>C (p.Leu521Pro)
|
|
|
NM_004304.5(ALK):c.1564A>G (p.Ser522Gly)
|
rs1573223126
|
|
NM_004304.5(ALK):c.1564A>T (p.Ser522Cys)
|
rs1573223126
|
|
NM_004304.5(ALK):c.1565G>A (p.Ser522Asn)
|
rs1553409333
|
|
NM_004304.5(ALK):c.1565G>T (p.Ser522Ile)
|
rs1553409333
|
|
NM_004304.5(ALK):c.1568C>A (p.Thr523Asn)
|
|
|
NM_004304.5(ALK):c.1568C>T (p.Thr523Ile)
|
rs1553409330
|
|
NM_004304.5(ALK):c.1571C>G (p.Thr524Ser)
|
rs771205105
|
|
NM_004304.5(ALK):c.1574A>G (p.Asp525Gly)
|
rs1666896402
|
|
NM_004304.5(ALK):c.1579C>A (p.Pro527Thr)
|
|
|
NM_004304.5(ALK):c.1579C>G (p.Pro527Ala)
|
|
|
NM_004304.5(ALK):c.1579C>T (p.Pro527Ser)
|
|
|
NM_004304.5(ALK):c.157A>G (p.Ser53Gly)
|
|
|
NM_004304.5(ALK):c.1585T>G (p.Ser529Ala)
|
rs1666895485
|
|
NM_004304.5(ALK):c.1588G>C (p.Glu530Gln)
|
rs1558667792
|
|
NM_004304.5(ALK):c.1589A>G (p.Glu530Gly)
|
rs1666895159
|
|
NM_004304.5(ALK):c.1591A>G (p.Ser531Gly)
|
rs1666895080
|
|
NM_004304.5(ALK):c.1593T>G (p.Ser531Arg)
|
rs763979460
|
|
NM_004304.5(ALK):c.1598C>T (p.Thr533Ile)
|
|
|
NM_004304.5(ALK):c.1601T>C (p.Val534Ala)
|
rs1573223031
|
|
NM_004304.5(ALK):c.1604C>T (p.Thr535Ile)
|
|
|
NM_004304.5(ALK):c.1609G>A (p.Ala537Thr)
|
|
|
NM_004304.5(ALK):c.1609G>T (p.Ala537Ser)
|
|
|
NM_004304.5(ALK):c.160C>G (p.Leu54Val)
|
|
|
NM_004304.5(ALK):c.1610C>T (p.Ala537Val)
|
|
|
NM_004304.5(ALK):c.1613C>A (p.Thr538Lys)
|
|
|
NM_004304.5(ALK):c.1622C>A (p.Ala541Glu)
|
rs1553409296
|
|
NM_004304.5(ALK):c.1622C>T (p.Ala541Val)
|
rs1553409296
|
|
NM_004304.5(ALK):c.1625C>G (p.Pro542Arg)
|
|
|
NM_004304.5(ALK):c.1626del (p.Ile543fs)
|
|
|
NM_004304.5(ALK):c.1627A>G (p.Ile543Val)
|
|
|
NM_004304.5(ALK):c.1628T>A (p.Ile543Asn)
|
rs1666893671
|
|
NM_004304.5(ALK):c.1628T>C (p.Ile543Thr)
|
|
|
NM_004304.5(ALK):c.1635C>G (p.Ser545Arg)
|
rs1666893501
|
|
NM_004304.5(ALK):c.1637C>G (p.Ser546Cys)
|
rs1666893427
|
|
NM_004304.5(ALK):c.1639C>A (p.Pro547Thr)
|
rs2148247961
|
|
NM_004304.5(ALK):c.1639C>G (p.Pro547Ala)
|
rs2148247961
|
|
NM_004304.5(ALK):c.1639C>T (p.Pro547Ser)
|
rs2148247961
|
|
NM_004304.5(ALK):c.163G>T (p.Ala55Ser)
|
rs1268569052
|
|
NM_004304.5(ALK):c.1640C>T (p.Pro547Leu)
|
|
|
NM_004304.5(ALK):c.1647+2C>A
|
|
|
NM_004304.5(ALK):c.1647+4A>G
|
rs2148247925
|
|
NM_004304.5(ALK):c.1648-1G>A
|
rs1666209215
|
|
NM_004304.5(ALK):c.1648-6T>G
|
rs1349124891
|
|
NM_004304.5(ALK):c.164C>T (p.Ala55Val)
|
rs1217013970
|
|
NM_004304.5(ALK):c.1662G>A (p.Trp554Ter)
|
rs1573203754
|
|
NM_004304.5(ALK):c.1666A>C (p.Ile556Leu)
|
|
|
NM_004304.5(ALK):c.1669C>G (p.Arg557Gly)
|
rs200364883
|
|
NM_004304.5(ALK):c.1670G>T (p.Arg557Leu)
|
rs200468507
|
|
NM_004304.5(ALK):c.1671T>A (p.Arg557=)
|
rs1666207701
|
|
NM_004304.5(ALK):c.1675G>A (p.Val559Ile)
|
rs1666207586
|
|
NM_004304.5(ALK):c.1676T>A (p.Val559Asp)
|
|
|
NM_004304.5(ALK):c.1676T>C (p.Val559Ala)
|
rs2148231259
|
|
NM_004304.5(ALK):c.1679T>G (p.Leu560Trp)
|
|
|
NM_004304.5(ALK):c.167T>C (p.Val56Ala)
|
rs2148443759
|
|
NM_004304.5(ALK):c.1681A>G (p.Arg561Gly)
|
|
|
NM_004304.5(ALK):c.1682G>A (p.Arg561Lys)
|
rs1666207256
|
|
NM_004304.5(ALK):c.1682G>C (p.Arg561Thr)
|
rs1666207256
|
|
NM_004304.5(ALK):c.1684_1685del (p.Gly562fs)
|
rs1666207064
|
|
NM_004304.5(ALK):c.1685G>T (p.Gly562Val)
|
|
|
NM_004304.5(ALK):c.1689C>A (p.Asn563Lys)
|
|
|
NM_004304.5(ALK):c.1689C>G (p.Asn563Lys)
|
rs565743321
|
|
NM_004304.5(ALK):c.1690G>A (p.Val564Met)
|
rs780939762
|
|
NM_004304.5(ALK):c.1690G>C (p.Val564Leu)
|
rs780939762
|
|
NM_004304.5(ALK):c.1690G>T (p.Val564Leu)
|
|
|
NM_004304.5(ALK):c.1693T>A (p.Ser565Thr)
|
|
|
NM_004304.5(ALK):c.1699G>A (p.Val567Met)
|
rs1553406025
|
|
NM_004304.5(ALK):c.1700T>G (p.Val567Gly)
|
rs1666206131
|
|
NM_004304.5(ALK):c.1702C>A (p.Leu568Ile)
|
rs1666205957
|
|
NM_004304.5(ALK):c.1703T>C (p.Leu568Pro)
|
rs1666205873
|
|
NM_004304.5(ALK):c.1705G>A (p.Val569Met)
|
rs754971913
|
|
NM_004304.5(ALK):c.1706T>C (p.Val569Ala)
|
|
|
NM_004304.5(ALK):c.1709A>C (p.Glu570Ala)
|
rs1666205563
|
|
NM_004304.5(ALK):c.1710G>T (p.Glu570Asp)
|
rs751328130
|
|
NM_004304.5(ALK):c.1713C>G (p.Asn571Lys)
|
rs902275025
|
|
NM_004304.5(ALK):c.1714A>T (p.Lys572Ter)
|
rs2148231179
|
|
NM_004304.5(ALK):c.1715A>G (p.Lys572Arg)
|
|
|
NM_004304.5(ALK):c.1718C>A (p.Thr573Asn)
|
rs1666205088
|
|
NM_004304.5(ALK):c.1718C>T (p.Thr573Ile)
|
rs1666205088
|
|
NM_004304.5(ALK):c.1720G>C (p.Gly574Arg)
|
rs762358335
|
|
NM_004304.5(ALK):c.1726G>C (p.Glu576Gln)
|
|
|
NM_004304.5(ALK):c.1728G>T (p.Glu576Asp)
|
rs765326883
|
|
NM_004304.5(ALK):c.1729C>G (p.Gln577Glu)
|
rs1430381834
|
|
NM_004304.5(ALK):c.172T>C (p.Phe58Leu)
|
rs1667965302
|
|
NM_004304.5(ALK):c.1733G>T (p.Gly578Val)
|
rs1666203993
|
|
NM_004304.5(ALK):c.1734C>T (p.Gly578=)
|
rs1666203885
|
|
NM_004304.5(ALK):c.1736G>A (p.Arg579Lys)
|
|
|
NM_004304.5(ALK):c.1736G>C (p.Arg579Thr)
|
|
|
NM_004304.5(ALK):c.1737G>T (p.Arg579Ser)
|
|
|
NM_004304.5(ALK):c.1741G>T (p.Val581Phe)
|
rs1666203352
|
|
NM_004304.5(ALK):c.1742T>C (p.Val581Ala)
|
|
|
NM_004304.5(ALK):c.1747C>A (p.His583Asn)
|
|
|
NM_004304.5(ALK):c.1747C>T (p.His583Tyr)
|
rs1666202984
|
|
NM_004304.5(ALK):c.1757C>A (p.Ala586Asp)
|
rs1046338903
|
|
NM_004304.5(ALK):c.1757C>T (p.Ala586Val)
|
rs1046338903
|
|
NM_004304.5(ALK):c.175G>A (p.Val59Met)
|
|
|
NM_004304.5(ALK):c.175G>T (p.Val59Leu)
|
rs1553380428
|
|
NM_004304.5(ALK):c.1760A>G (p.Tyr587Cys)
|
rs1338200771
|
|
NM_004304.5(ALK):c.1760A>T (p.Tyr587Phe)
|
|
|
NM_004304.5(ALK):c.1766G>T (p.Gly589Val)
|
rs769505453
|
|
NM_004304.5(ALK):c.176T>C (p.Val59Ala)
|
|
|
NM_004304.5(ALK):c.1779G>C (p.Trp593Cys)
|
rs2148231055
|
|
NM_004304.5(ALK):c.1781A>G (p.Gln594Arg)
|
|
|
NM_004304.5(ALK):c.1782G>C (p.Gln594His)
|
rs1573203576
|
|
NM_004304.5(ALK):c.1785G>A (p.Trp595Ter)
|
rs2148231045
|
|
NM_004304.5(ALK):c.1786A>G (p.Met596Val)
|
|
|
NM_004304.5(ALK):c.1789G>A (p.Val597Met)
|
|
|
NM_004304.5(ALK):c.1789G>C (p.Val597Leu)
|
|
|
NM_004304.5(ALK):c.1789G>T (p.Val597Leu)
|
|
|
NM_004304.5(ALK):c.178G>A (p.Val60Met)
|
rs1031804606
|
|
NM_004304.5(ALK):c.1790T>C (p.Val597Ala)
|
rs747000305
|
|
NM_004304.5(ALK):c.1794G>C (p.Leu598Phe)
|
|
|
NM_004304.5(ALK):c.1794G>T (p.Leu598Phe)
|
rs942266375
|
|
NM_004304.5(ALK):c.1795C>T (p.Pro599Ser)
|
rs2148231018
|
|
NM_004304.5(ALK):c.1798C>T (p.Leu600Phe)
|
rs2148231015
|
|
NM_004304.5(ALK):c.1806T>G (p.Asp602Glu)
|
rs753871185
|
|
NM_004304.5(ALK):c.1816A>G (p.Arg606Gly)
|
rs1666198944
|
|
NM_004304.5(ALK):c.1817+3A>G
|
rs2148230980
|
|
NM_004304.5(ALK):c.1817+5G>C
|
|
|
NM_004304.5(ALK):c.1817+6C>A
|
rs1558658288
|
|
NM_004304.5(ALK):c.1818-1G>A
|
rs1665518836
|
|
NM_004304.5(ALK):c.1818G>T (p.Arg606Ser)
|
|
|
NM_004304.5(ALK):c.1820T>A (p.Phe607Tyr)
|
rs1304239235
|
|
NM_004304.5(ALK):c.1825C>G (p.Leu609Val)
|
rs1665518534
|
|
NM_004304.5(ALK):c.1828C>T (p.Gln610Ter)
|
|
|
NM_004304.5(ALK):c.1829A>G (p.Gln610Arg)
|
|
|
NM_004304.5(ALK):c.182C>T (p.Pro61Leu)
|
|
|
NM_004304.5(ALK):c.1830G>C (p.Gln610His)
|
|
|
NM_004304.5(ALK):c.1831A>T (p.Met611Leu)
|
|
|
NM_004304.5(ALK):c.1833G>T (p.Met611Ile)
|
rs1302907379
|
|
NM_004304.5(ALK):c.1834G>A (p.Val612Ile)
|
rs1431784023
|
|
NM_004304.5(ALK):c.1835T>C (p.Val612Ala)
|
|
|
NM_004304.5(ALK):c.1837G>C (p.Ala613Pro)
|
|
|
NM_004304.5(ALK):c.1840T>G (p.Trp614Gly)
|
|
|
NM_004304.5(ALK):c.1841G>C (p.Trp614Ser)
|
|
|
NM_004304.5(ALK):c.1841G>T (p.Trp614Leu)
|
rs760038434
|
|
NM_004304.5(ALK):c.1842G>A (p.Trp614Ter)
|
|
|
NM_004304.5(ALK):c.1843T>A (p.Trp615Arg)
|
rs774517608
|
|
NM_004304.5(ALK):c.1843T>G (p.Trp615Gly)
|
rs774517608
|
|
NM_004304.5(ALK):c.1844G>T (p.Trp615Leu)
|
rs1665517386
|
|
NM_004304.5(ALK):c.1845G>A (p.Trp615Ter)
|
rs2148215455
|
|
NM_004304.5(ALK):c.1849C>A (p.Gln617Lys)
|
rs2148215449
|
|
NM_004304.5(ALK):c.1852G>A (p.Gly618Arg)
|
rs1573183907
|
|
NM_004304.5(ALK):c.1853G>A (p.Gly618Glu)
|
rs766821017
|
|
NM_004304.5(ALK):c.1853G>C (p.Gly618Ala)
|
|
|
NM_004304.5(ALK):c.1859G>C (p.Arg620Thr)
|
rs1665516911
|
|
NM_004304.5(ALK):c.185C>G (p.Ser62Trp)
|
|
|
NM_004304.5(ALK):c.185C>T (p.Ser62Leu)
|
rs1572503765
|
|
NM_004304.5(ALK):c.1864A>G (p.Ile622Val)
|
|
|
NM_004304.5(ALK):c.1864A>T (p.Ile622Phe)
|
|
|
NM_004304.5(ALK):c.1865T>C (p.Ile622Thr)
|
rs1665516730
|
|
NM_004304.5(ALK):c.1868T>C (p.Val623Ala)
|
|
|
NM_004304.5(ALK):c.1870G>C (p.Ala624Pro)
|
rs1665516398
|
|
NM_004304.5(ALK):c.1871C>T (p.Ala624Val)
|
rs906659904
|
|
NM_004304.5(ALK):c.1874T>C (p.Phe625Ser)
|
rs760213029
|
|
NM_004304.5(ALK):c.1875T>G (p.Phe625Leu)
|
rs1553402765
|
|
NM_004304.5(ALK):c.1879A>G (p.Asn627Asp)
|
|
|
NM_004304.5(ALK):c.187C>T (p.Leu63Phe)
|
|
|
NM_004304.5(ALK):c.1880A>G (p.Asn627Ser)
|
rs1025380501
|
|
NM_004304.5(ALK):c.1885T>C (p.Ser629Pro)
|
|
|
NM_004304.5(ALK):c.1889T>A (p.Ile630Asn)
|
|
|
NM_004304.5(ALK):c.1890C>T (p.Ile630=)
|
rs1278070199
|
|
NM_004304.5(ALK):c.1892G>A (p.Ser631Asn)
|
rs1665515584
|
|
NM_004304.5(ALK):c.1902C>G (p.Cys634Trp)
|
rs1215374113
|
|
NM_004304.5(ALK):c.1904A>G (p.Tyr635Cys)
|
|
|
NM_004304.5(ALK):c.1907T>C (p.Leu636Pro)
|
|
|
NM_004304.5(ALK):c.1910C>G (p.Thr637Ser)
|
|
|
NM_004304.5(ALK):c.1911C>T (p.Thr637=)
|
rs1553402750
|
|
NM_004304.5(ALK):c.1912+1del
|
|
|
NM_004304.5(ALK):c.1913-2A>C
|
|
|
NM_004304.5(ALK):c.1913-4_1913-3delinsAA
|
|
|
NM_004304.5(ALK):c.1918G>T (p.Gly640Ter)
|
|
|
NM_004304.5(ALK):c.1923G>T (p.Glu641Asp)
|
rs1665503142
|
|
NM_004304.5(ALK):c.1924G>A (p.Asp642Asn)
|
rs1573183654
|
|
NM_004304.5(ALK):c.1926C>A (p.Asp642Glu)
|
rs2148215171
|
|
NM_004304.5(ALK):c.1928A>C (p.Lys643Thr)
|
|
|
NM_004304.5(ALK):c.1929G>T (p.Lys643Asn)
|
|
|
NM_004304.5(ALK):c.192C>G (p.Phe64Leu)
|
rs376663390
|
|
NM_004304.5(ALK):c.1931T>C (p.Ile644Thr)
|
|
|
NM_004304.5(ALK):c.1931T>G (p.Ile644Ser)
|
rs774398992
|
|
NM_004304.5(ALK):c.1937A>G (p.Gln646Arg)
|
rs1311437200
|
|
NM_004304.5(ALK):c.193C>A (p.Arg65Ser)
|
|
|
NM_004304.5(ALK):c.193C>T (p.Arg65Cys)
|
rs1343353214
|
|
NM_004304.5(ALK):c.193del (p.Arg65fs)
|
rs2148443715
|
|
NM_004304.5(ALK):c.1942A>G (p.Thr648Ala)
|
|
|
NM_004304.5(ALK):c.1943C>A (p.Thr648Lys)
|
|
|
NM_004304.5(ALK):c.1949C>T (p.Pro650Leu)
|
|
|
NM_004304.5(ALK):c.194G>T (p.Arg65Leu)
|
|
|
NM_004304.5(ALK):c.1954T>C (p.Ser652Pro)
|
rs2148215120
|
|
NM_004304.5(ALK):c.1963C>G (p.Leu655Val)
|
|
|
NM_004304.5(ALK):c.1969G>C (p.Glu657Gln)
|
|
|
NM_004304.5(ALK):c.1970A>G (p.Glu657Gly)
|
|
|
NM_004304.5(ALK):c.1977C>A (p.Asn659Lys)
|
rs780562062
|
|
NM_004304.5(ALK):c.1977C>G (p.Asn659Lys)
|
rs780562062
|
|
NM_004304.5(ALK):c.1989G>T (p.Glu663Asp)
|
rs760401344
|
|
NM_004304.5(ALK):c.1990C>A (p.Leu664Met)
|
|
|
NM_004304.5(ALK):c.1996C>G (p.Pro666Ala)
|
|
|
NM_004304.5(ALK):c.1996C>T (p.Pro666Ser)
|
rs752439739
|
|
NM_004304.5(ALK):c.19del (p.Leu7fs)
|
|
|
NM_004304.5(ALK):c.1A>T (p.Met1Leu)
|
rs1202047396
|
|
NM_004304.5(ALK):c.2000G>A (p.Gly667Glu)
|
rs1665499933
|
|
NM_004304.5(ALK):c.2000G>C (p.Gly667Ala)
|
|
|
NM_004304.5(ALK):c.2006A>G (p.Asn669Ser)
|
rs149640902
|
|
NM_004304.5(ALK):c.2009C>T (p.Ser670Leu)
|
|
|
NM_004304.5(ALK):c.2011C>A (p.Pro671Thr)
|
rs145780832
|
|
NM_004304.5(ALK):c.2018A>C (p.Gln673Pro)
|
|
|
NM_004304.5(ALK):c.2018A>G (p.Gln673Arg)
|
rs762808842
|
|
NM_004304.5(ALK):c.2021C>A (p.Thr674Asn)
|
rs1178181097
|
|
NM_004304.5(ALK):c.2025del (p.Ile676fs)
|
rs35670445
|
|
NM_004304.5(ALK):c.2026A>T (p.Ile676Phe)
|
|
|
NM_004304.5(ALK):c.202G>C (p.Ala68Pro)
|
rs1414978905
|
|
NM_004304.5(ALK):c.2032G>A (p.Asp678Asn)
|
rs892131322
|
|
NM_004304.5(ALK):c.2032G>C (p.Asp678His)
|
rs892131322
|
|
NM_004304.5(ALK):c.2032G>T (p.Asp678Tyr)
|
rs892131322
|
|
NM_004304.5(ALK):c.2036C>A (p.Pro679His)
|
|
|
NM_004304.5(ALK):c.2036C>G (p.Pro679Arg)
|
rs1558648699
|
|
NM_004304.5(ALK):c.2036C>T (p.Pro679Leu)
|
rs1558648699
|
|
NM_004304.5(ALK):c.2041+19_2041+30del
|
rs2148214920
|
|
NM_004304.5(ALK):c.2041+2T>C
|
rs2148214956
|
|
NM_004304.5(ALK):c.2041+6G>A
|
|
|
NM_004304.5(ALK):c.2041+6G>T
|
|
|
NM_004304.5(ALK):c.2041G>A (p.Val681Ile)
|
rs1665497617
|
|
NM_004304.5(ALK):c.2041G>C (p.Val681Leu)
|
rs1665497617
|
|
NM_004304.5(ALK):c.2042-65_2074delinsTCTGA
|
|
|
NM_004304.5(ALK):c.2044C>A (p.His682Asn)
|
|
|
NM_004304.5(ALK):c.2044C>T (p.His682Tyr)
|
|
|
NM_004304.5(ALK):c.2050C>A (p.Leu684Met)
|
rs1664810025
|
|
NM_004304.5(ALK):c.2055CAC[1] (p.Thr687del)
|
rs2148197659
|
|
NM_004304.5(ALK):c.205C>T (p.Arg69Trp)
|
rs1052259770
|
|
NM_004304.5(ALK):c.2065G>A (p.Gly689Arg)
|
rs1664809619
|
|
NM_004304.5(ALK):c.2065G>C (p.Gly689Arg)
|
rs1664809619
|
|
NM_004304.5(ALK):c.2068G>A (p.Ala690Thr)
|
rs375105843
|
|
NM_004304.5(ALK):c.206G>T (p.Arg69Leu)
|
|
|
NM_004304.5(ALK):c.2073C>A (p.Ser691Arg)
|
rs370435082
|
|
NM_004304.5(ALK):c.2073C>G (p.Ser691Arg)
|
rs370435082
|
|
NM_004304.5(ALK):c.2073C>T (p.Ser691=)
|
rs370435082
|
|
NM_004304.5(ALK):c.2075G>A (p.Gly692Glu)
|
|
|
NM_004304.5(ALK):c.2076_2077insT (p.Pro693fs)
|
|
|
NM_004304.5(ALK):c.2078C>T (p.Pro693Leu)
|
rs2148197596
|
|
NM_004304.5(ALK):c.2083G>T (p.Gly695Cys)
|
|
|
NM_004304.5(ALK):c.2086C>A (p.Pro696Thr)
|
rs1664808733
|
|
NM_004304.5(ALK):c.2089A>T (p.Thr697Ser)
|
|
|
NM_004304.5(ALK):c.2090C>A (p.Thr697Asn)
|
rs1339495215
|
|
NM_004304.5(ALK):c.2093A>G (p.Gln698Arg)
|
rs2148197557
|
|
NM_004304.5(ALK):c.2096C>T (p.Ala699Val)
|
|
|
NM_004304.5(ALK):c.2099A>G (p.Gln700Arg)
|
rs1664808216
|
|
NM_004304.5(ALK):c.2099dup (p.Cys701fs)
|
|
|
NM_004304.5(ALK):c.209A>C (p.Asp70Ala)
|
|
|
NM_004304.5(ALK):c.20T>C (p.Leu7Pro)
|
rs1351584977
|
|
NM_004304.5(ALK):c.2110G>T (p.Ala704Ser)
|
|
|
NM_004304.5(ALK):c.2116C>T (p.Gln706Ter)
|
|
|
NM_004304.5(ALK):c.2117A>G (p.Gln706Arg)
|
rs1664807502
|
|
NM_004304.5(ALK):c.2126A>G (p.Asn709Ser)
|
rs1573160589
|
|
NM_004304.5(ALK):c.2128C>A (p.Leu710Met)
|
|
|
NM_004304.5(ALK):c.2129T>G (p.Leu710Arg)
|
rs1664807217
|
|
NM_004304.5(ALK):c.2131A>G (p.Ser711Gly)
|
rs1166188112
|
|
NM_004304.5(ALK):c.2132G>A (p.Ser711Asn)
|
|
|
NM_004304.5(ALK):c.2134G>T (p.Val712Leu)
|
rs78723472
|
|
NM_004304.5(ALK):c.2137G>C (p.Glu713Gln)
|
|
|
NM_004304.5(ALK):c.2140G>A (p.Val714Met)
|
|
|
NM_004304.5(ALK):c.2143G>A (p.Gly715Arg)
|
|
|
NM_004304.5(ALK):c.2147G>T (p.Ser716Ile)
|
rs2148197375
|
|
NM_004304.5(ALK):c.2149G>C (p.Glu717Gln)
|
|
|
NM_004304.5(ALK):c.2152G>C (p.Gly718Arg)
|
rs1664805998
|
|
NM_004304.5(ALK):c.2153G>A (p.Gly718Asp)
|
rs1573160519
|
|
NM_004304.5(ALK):c.2153del (p.Gly718fs)
|
rs2148197344
|
|
NM_004304.5(ALK):c.2155C>A (p.Pro719Thr)
|
rs759652463
|
|
NM_004304.5(ALK):c.2155C>T (p.Pro719Ser)
|
rs759652463
|
|
NM_004304.5(ALK):c.2156C>T (p.Pro719Leu)
|
|
|
NM_004304.5(ALK):c.2158C>A (p.Leu720Met)
|
|
|
NM_004304.5(ALK):c.2159T>A (p.Leu720Gln)
|
rs1336406369
|
|
NM_004304.5(ALK):c.2159del (p.Leu720fs)
|
rs2148197328
|
|
NM_004304.5(ALK):c.2164G>C (p.Gly722Arg)
|
rs1573160483
|
|
NM_004304.5(ALK):c.2165G>C (p.Gly722Ala)
|
rs140527448
|
|
NM_004304.5(ALK):c.2172G>T (p.Gln724His)
|
rs771511785
|
|
NM_004304.5(ALK):c.2177G>A (p.Trp726Ter)
|
rs1573160453
|
|
NM_004304.5(ALK):c.2178G>A (p.Trp726Ter)
|
|
|
NM_004304.5(ALK):c.2183_2184insCTGGTG (p.Val728_Pro729insTrpTrp)
|
|
|
NM_004304.5(ALK):c.2185C>G (p.Pro729Ala)
|
rs2148197245
|
|
NM_004304.5(ALK):c.2188G>A (p.Ala730Thr)
|
rs1664804373
|
|
NM_004304.5(ALK):c.2191A>G (p.Thr731Ala)
|
rs1664804307
|
|
NM_004304.5(ALK):c.2192C>A (p.Thr731Asn)
|
rs1664804232
|
|
NM_004304.5(ALK):c.2192C>G (p.Thr731Ser)
|
|
|
NM_004304.5(ALK):c.2204+3G>A
|
|
|
NM_004304.5(ALK):c.2204+4C>A
|
rs201806531
|
|
NM_004304.5(ALK):c.2204+4C>G
|
rs201806531
|
|
NM_004304.5(ALK):c.2204+5G>C
|
rs367892725
|
|
NM_004304.5(ALK):c.2205-2A>T
|
rs1664477879
|
|
NM_004304.5(ALK):c.2205-3C>T
|
|
|
NM_004304.5(ALK):c.2207T>C (p.Ile736Thr)
|
rs2148188895
|
|
NM_004304.5(ALK):c.2212G>A (p.Gly738Ser)
|
rs1375509946
|
|
NM_004304.5(ALK):c.2213G>T (p.Gly738Val)
|
|
|
NM_004304.5(ALK):c.2217C>A (p.Tyr739Ter)
|
rs141858653
|
|
NM_004304.5(ALK):c.2218G>C (p.Gly740Arg)
|
rs766541301
|
|
NM_004304.5(ALK):c.221C>G (p.Pro74Arg)
|
rs1187464179
|
|
NM_004304.5(ALK):c.2222C>G (p.Ala741Gly)
|
rs1664477105
|
|
NM_004304.5(ALK):c.2230G>A (p.Gly744Arg)
|
rs1168161055
|
|
NM_004304.5(ALK):c.2235_2243dup (p.Lys748_Asn749insGlyGlyLys)
|
|
|
NM_004304.5(ALK):c.2236G>A (p.Gly746Ser)
|
rs1553397495
|
|
NM_004304.5(ALK):c.2242A>C (p.Lys748Gln)
|
|
|
NM_004304.5(ALK):c.2243A>G (p.Lys748Arg)
|
rs1558633442
|
|
NM_004304.5(ALK):c.2248A>G (p.Thr750Ala)
|
|
|
NM_004304.5(ALK):c.2249C>A (p.Thr750Asn)
|
|
|
NM_004304.5(ALK):c.224C>A (p.Pro75Gln)
|
rs1667963680
|
|
NM_004304.5(ALK):c.224C>T (p.Pro75Leu)
|
rs1667963680
|
|
NM_004304.5(ALK):c.2251A>T (p.Met751Leu)
|
|
|
NM_004304.5(ALK):c.2257C>G (p.Arg753Gly)
|
rs745499366
|
|
NM_004304.5(ALK):c.2257C>T (p.Arg753Trp)
|
rs745499366
|
|
NM_004304.5(ALK):c.2258G>T (p.Arg753Leu)
|
|
|
NM_004304.5(ALK):c.2260T>A (p.Ser754Thr)
|
rs1278118769
|
|
NM_004304.5(ALK):c.2262_2273del (p.His755_Ser758del)
|
|
|
NM_004304.5(ALK):c.2265C>A (p.His755Gln)
|
|
|
NM_004304.5(ALK):c.2269G>T (p.Val757Leu)
|
rs371005946
|
|
NM_004304.5(ALK):c.2270T>C (p.Val757Ala)
|
rs781098925
|
|
NM_004304.5(ALK):c.2272T>A (p.Ser758Thr)
|
|
|
NM_004304.5(ALK):c.2276T>G (p.Val759Gly)
|
rs1664474690
|
|
NM_004304.5(ALK):c.227C>G (p.Ser76Cys)
|
rs2148443665
|
|
NM_004304.5(ALK):c.2280G>A (p.Leu760=)
|
rs2148188760
|
|
NM_004304.5(ALK):c.2281G>A (p.Gly761Ser)
|
rs1664474572
|
|
NM_004304.5(ALK):c.2284A>G (p.Ile762Val)
|
rs751419856
|
|
NM_004304.5(ALK):c.2285T>A (p.Ile762Asn)
|
rs1169776576
|
|
NM_004304.5(ALK):c.2286C>G (p.Ile762Met)
|
rs1664474290
|
|
NM_004304.5(ALK):c.2287T>G (p.Phe763Val)
|
|
|
NM_004304.5(ALK):c.2291A>G (p.Asn764Ser)
|
|
|
NM_004304.5(ALK):c.2300A>G (p.Lys767Arg)
|
|
|
NM_004304.5(ALK):c.2302G>C (p.Asp768His)
|
|
|
NM_004304.5(ALK):c.2303A>G (p.Asp768Gly)
|
rs2148188725
|
|
NM_004304.5(ALK):c.2303A>T (p.Asp768Val)
|
|
|
NM_004304.5(ALK):c.2305G>A (p.Asp769Asn)
|
|
|
NM_004304.5(ALK):c.2306A>G (p.Asp769Gly)
|
|
|
NM_004304.5(ALK):c.2306A>T (p.Asp769Val)
|
rs1205473928
|
|
NM_004304.5(ALK):c.2310G>A (p.Met770Ile)
|
rs1256405098
|
|
NM_004304.5(ALK):c.2312T>C (p.Leu771Pro)
|
|
|
NM_004304.5(ALK):c.2315A>G (p.Tyr772Cys)
|
|
|
NM_004304.5(ALK):c.2317A>C (p.Ile773Leu)
|
|
|
NM_004304.5(ALK):c.2319C>G (p.Ile773Met)
|
rs1227146625
|
|
NM_004304.5(ALK):c.2323G>T (p.Val775Phe)
|
rs1664472929
|
|
NM_004304.5(ALK):c.2324T>A (p.Val775Asp)
|
|
|
NM_004304.5(ALK):c.2324T>C (p.Val775Ala)
|
|
|
NM_004304.5(ALK):c.2327G>A (p.Gly776Glu)
|
rs1664472832
|
|
NM_004304.5(ALK):c.2331G>T (p.Gln777His)
|
rs2148188686
|
|
NM_004304.5(ALK):c.2332C>G (p.Gln778Glu)
|
|
|
NM_004304.5(ALK):c.2338G>A (p.Glu780Lys)
|
|
|
NM_004304.5(ALK):c.2339A>G (p.Glu780Gly)
|
|
|
NM_004304.5(ALK):c.233C>G (p.Ser78Trp)
|
rs748978993
|
|
NM_004304.5(ALK):c.233C>T (p.Ser78Leu)
|
|
|
NM_004304.5(ALK):c.2344G>A (p.Ala782Thr)
|
rs549721018
|
|
NM_004304.5(ALK):c.2345C>G (p.Ala782Gly)
|
rs769390697
|
|
NM_004304.5(ALK):c.2350C>A (p.Pro784Thr)
|
rs1177791435
|
|
NM_004304.5(ALK):c.2353A>G (p.Ser785Gly)
|
rs1664471687
|
|
NM_004304.5(ALK):c.2354G>C (p.Ser785Thr)
|
|
|
NM_004304.5(ALK):c.2354G>T (p.Ser785Ile)
|
rs1441640593
|
|
NM_004304.5(ALK):c.2355+1G>T
|
|
|
NM_004304.5(ALK):c.2355+3A>T
|
|
|
NM_004304.5(ALK):c.2355+6T>G
|
|
|
NM_004304.5(ALK):c.2355T>G (p.Ser785Arg)
|
|
|
NM_004304.5(ALK):c.2356A>C (p.Thr786Pro)
|
rs375227499
|
|
NM_004304.5(ALK):c.2356A>G (p.Thr786Ala)
|
rs375227499
|
|
NM_004304.5(ALK):c.2359A>G (p.Asn787Asp)
|
rs1664285603
|
|
NM_004304.5(ALK):c.2360A>G (p.Asn787Ser)
|
|
|
NM_004304.5(ALK):c.2361C>A (p.Asn787Lys)
|
rs777889776
|
|
NM_004304.5(ALK):c.2366T>G (p.Leu789Ter)
|
rs2148184625
|
|
NM_004304.5(ALK):c.2374A>G (p.Lys792Glu)
|
rs950513733
|
|
NM_004304.5(ALK):c.2378T>C (p.Val793Ala)
|
rs1664284981
|
|
NM_004304.5(ALK):c.237G>T (p.Glu79Asp)
|
rs1022670397
|
|
NM_004304.5(ALK):c.2381G>T (p.Cys794Phe)
|
|
|
NM_004304.5(ALK):c.2386G>A (p.Gly796Arg)
|
rs942512399
|
|
NM_004304.5(ALK):c.2387G>A (p.Gly796Glu)
|
|
|
NM_004304.5(ALK):c.2389G>A (p.Glu797Lys)
|
|
|
NM_004304.5(ALK):c.2390A>G (p.Glu797Gly)
|
|
|
NM_004304.5(ALK):c.2392A>T (p.Asn798Tyr)
|
|
|
NM_004304.5(ALK):c.2393A>C (p.Asn798Thr)
|
rs2148184587
|
|
NM_004304.5(ALK):c.2393A>G (p.Asn798Ser)
|
|
|
NM_004304.5(ALK):c.2394C>A (p.Asn798Lys)
|
|
|
NM_004304.5(ALK):c.2396A>G (p.Asn799Ser)
|
rs563120454
|
|
NM_004304.5(ALK):c.2399T>A (p.Val800Glu)
|
|
|
NM_004304.5(ALK):c.2401A>G (p.Ile801Val)
|
rs1664284078
|
|
NM_004304.5(ALK):c.2404GAA[2] (p.Glu804del)
|
rs1558630567
|
|
NM_004304.5(ALK):c.2410G>A (p.Glu804Lys)
|
|
|
NM_004304.5(ALK):c.2415C>G (p.Ile805Met)
|
|
|
NM_004304.5(ALK):c.2416C>A (p.Arg806Ser)
|
rs80227749
|
|
NM_004304.5(ALK):c.2417G>T (p.Arg806Leu)
|
rs761568836
|
|
NM_004304.5(ALK):c.2420T>C (p.Val807Ala)
|
|
|
NM_004304.5(ALK):c.2420dup (p.Asn808fs)
|
rs1664283510
|
|
NM_004304.5(ALK):c.2423A>G (p.Asn808Ser)
|
rs2148184532
|
|
NM_004304.5(ALK):c.2428A>G (p.Ser810Gly)
|
rs2148184523
|
|
NM_004304.5(ALK):c.242A>G (p.Lys81Arg)
|
|
|
NM_004304.5(ALK):c.2430C>G (p.Ser810Arg)
|
rs150292405
|
|
NM_004304.5(ALK):c.2434C>G (p.His812Asp)
|
rs1404474970
|
|
NM_004304.5(ALK):c.2440T>G (p.Trp814Gly)
|
rs1664282523
|
|
NM_004304.5(ALK):c.2442G>A (p.Trp814Ter)
|
|
|
NM_004304.5(ALK):c.2442G>T (p.Trp814Cys)
|
rs2148184506
|
|
NM_004304.5(ALK):c.2443G>T (p.Ala815Ser)
|
rs200486099
|
|
NM_004304.5(ALK):c.2447G>A (p.Gly816Glu)
|
|
|
NM_004304.5(ALK):c.2456G>A (p.Gly819Glu)
|
|
|
NM_004304.5(ALK):c.2456_2470dup (p.Gly823_Ala824insGlyGlyGlyGlyGly)
|
|
|
NM_004304.5(ALK):c.2456dup (p.Gly820fs)
|
rs2148184483
|
|
NM_004304.5(ALK):c.2458G>A (p.Gly820Arg)
|
rs1664281575
|
|
NM_004304.5(ALK):c.2459G>A (p.Gly820Glu)
|
rs1573141557
|
|
NM_004304.5(ALK):c.2459del (p.Gly820fs)
|
rs2148184481
|
|
NM_004304.5(ALK):c.2461G>A (p.Gly821Arg)
|
rs201590062
|
|
NM_004304.5(ALK):c.2470G>T (p.Ala824Ser)
|
rs571958914
|
|
NM_004304.5(ALK):c.2474C>T (p.Thr825Ile)
|
rs1573141513
|
|
NM_004304.5(ALK):c.2475C>G (p.Thr825=)
|
rs2148184433
|
|
NM_004304.5(ALK):c.2479G>C (p.Val827Leu)
|
rs756963896
|
|
NM_004304.5(ALK):c.247G>A (p.Gly83Ser)
|
rs2148443637
|
|
NM_004304.5(ALK):c.2487+4T>A
|
|
|
NM_004304.5(ALK):c.2487+4_2487+5dup
|
rs1664279648
|
|
NM_004304.5(ALK):c.2487+6G>A
|
rs1664279510
|
|
NM_004304.5(ALK):c.2488-1G>A
|
rs1311699420
|
|
NM_004304.5(ALK):c.2488-3C>T
|
rs2148183487
|
|
NM_004304.5(ALK):c.2488-6G>C
|
rs1664242016
|
|
NM_004304.5(ALK):c.2489T>C (p.Met830Thr)
|
rs1417845239
|
|
NM_004304.5(ALK):c.248G>T (p.Gly83Val)
|
rs769440812
|
|
NM_004304.5(ALK):c.2494G>A (p.Asp832Asn)
|
rs1376612666
|
|
NM_004304.5(ALK):c.2494G>C (p.Asp832His)
|
|
|
NM_004304.5(ALK):c.2496T>A (p.Asp832Glu)
|
|
|
NM_004304.5(ALK):c.2498G>A (p.Gly833Glu)
|
rs1573139708
|
|
NM_004304.5(ALK):c.2501T>A (p.Val834Glu)
|
rs750849080
|
|
NM_004304.5(ALK):c.2506G>C (p.Val836Leu)
|
|
|
NM_004304.5(ALK):c.2506del (p.Val836fs)
|
rs1664240821
|
|
NM_004304.5(ALK):c.2510C>G (p.Pro837Arg)
|
|
|
NM_004304.5(ALK):c.2513T>C (p.Leu838Pro)
|
|
|
NM_004304.5(ALK):c.2513del (p.Leu838fs)
|
rs1573139642
|
|
NM_004304.5(ALK):c.2515A>G (p.Ile839Val)
|
rs1371180882
|
|
NM_004304.5(ALK):c.2518A>G (p.Ile840Val)
|
|
|
NM_004304.5(ALK):c.2521G>A (p.Ala841Thr)
|
rs766322560
|
|
NM_004304.5(ALK):c.252G>T (p.Arg84Ser)
|
rs2148443625
|
|
NM_004304.5(ALK):c.2530G>A (p.Gly844Ser)
|
rs2148183406
|
|
NM_004304.5(ALK):c.2530G>C (p.Gly844Arg)
|
rs2148183406
|
|
NM_004304.5(ALK):c.2535_2536inv (p.Gly846Ser)
|
|
|
NM_004304.5(ALK):c.253C>T (p.Pro85Ser)
|
|
|
NM_004304.5(ALK):c.2542G>A (p.Ala848Thr)
|
|
|
NM_004304.5(ALK):c.2543C>G (p.Ala848Gly)
|
|
|
NM_004304.5(ALK):c.2543C>T (p.Ala848Val)
|
rs1664239038
|
|
NM_004304.5(ALK):c.2546A>G (p.Tyr849Cys)
|
rs1043717591
|
|
NM_004304.5(ALK):c.2548G>C (p.Gly850Arg)
|
rs200563480
|
|
NM_004304.5(ALK):c.2549G>A (p.Gly850Glu)
|
|
|
NM_004304.5(ALK):c.2551G>T (p.Ala851Ser)
|
|
|
NM_004304.5(ALK):c.2552C>A (p.Ala851Asp)
|
rs571017977
|
|
NM_004304.5(ALK):c.2558C>T (p.Thr853Ile)
|
|
|
NM_004304.5(ALK):c.2560G>C (p.Asp854His)
|
rs189078025
|
|
NM_004304.5(ALK):c.2564C>T (p.Thr855Met)
|
rs1295878742
|
|
NM_004304.5(ALK):c.2567T>C (p.Phe856Ser)
|
rs1573139504
|
|
NM_004304.5(ALK):c.256G>A (p.Glu86Lys)
|
rs1448609696
|
|
NM_004304.5(ALK):c.256G>T (p.Glu86Ter)
|
|
|
NM_004304.5(ALK):c.2570A>T (p.His857Leu)
|
rs1664237639
|
|
NM_004304.5(ALK):c.2575G>A (p.Glu859Lys)
|
rs2148183312
|
|
NM_004304.5(ALK):c.2579G>A (p.Arg860Lys)
|
rs1194282326
|
|
NM_004304.5(ALK):c.257_263dup (p.Ser90fs)
|
|
|
NM_004304.5(ALK):c.2582T>G (p.Leu861Arg)
|
|
|
NM_004304.5(ALK):c.2584G>C (p.Glu862Gln)
|
|
|
NM_004304.5(ALK):c.258G>C (p.Glu86Asp)
|
rs878854654
|
|
NM_004304.5(ALK):c.2596T>A (p.Ser866Thr)
|
|
|
NM_004304.5(ALK):c.2596T>C (p.Ser866Pro)
|
rs1553396171
|
|
NM_004304.5(ALK):c.2599G>A (p.Val867Ile)
|
rs1402889581
|
|
NM_004304.5(ALK):c.25C>A (p.Leu9Ile)
|
rs1335279051
|
|
NM_004304.5(ALK):c.2600T>C (p.Val867Ala)
|
rs1664236109
|
|
NM_004304.5(ALK):c.2606G>A (p.Gly869Glu)
|
|
|
NM_004304.5(ALK):c.260C>T (p.Ala87Val)
|
|
|
NM_004304.5(ALK):c.2615G>A (p.Gly872Asp)
|
|
|
NM_004304.5(ALK):c.2616C>T (p.Gly872=)
|
rs2148183266
|
|
NM_004304.5(ALK):c.2618A>T (p.Asn873Ile)
|
|
|
NM_004304.5(ALK):c.2620T>C (p.Ser874Pro)
|
|
|
NM_004304.5(ALK):c.2626G>C (p.Ala876Pro)
|
|
|
NM_004304.5(ALK):c.2627C>G (p.Ala876Gly)
|
|
|
NM_004304.5(ALK):c.2629G>T (p.Ala877Ser)
|
rs746442213
|
|
NM_004304.5(ALK):c.262C>T (p.Arg88Cys)
|
|
|
NM_004304.5(ALK):c.2631A>C (p.Ala877=)
|
|
|
NM_004304.5(ALK):c.2632+2T>C
|
|
|
NM_004304.5(ALK):c.2633-19T>A
|
|
|
NM_004304.5(ALK):c.2633-2A>G
|
rs1471857749
|
|
NM_004304.5(ALK):c.2633-6C>A
|
rs577768628
|
|
NM_004304.5(ALK):c.2633G>A (p.Gly878Asp)
|
rs1664106372
|
|
NM_004304.5(ALK):c.2639G>A (p.Gly880Glu)
|
rs1179544655
|
|
NM_004304.5(ALK):c.2641G>C (p.Gly881Arg)
|
rs1256624924
|
|
NM_004304.5(ALK):c.2641G>T (p.Gly881Cys)
|
|
|
NM_004304.5(ALK):c.2644G>A (p.Gly882Ser)
|
|
|
NM_004304.5(ALK):c.2648G>A (p.Trp883Ter)
|
rs2148180715
|
|
NM_004304.5(ALK):c.2649G>A (p.Trp883Ter)
|
|
|
NM_004304.5(ALK):c.2649G>C (p.Trp883Cys)
|
|
|
NM_004304.5(ALK):c.2653G>T (p.Asp885Tyr)
|
|
|
NM_004304.5(ALK):c.2656A>G (p.Asn886Asp)
|
rs2148180711
|
|
NM_004304.5(ALK):c.265G>A (p.Gly89Ser)
|
rs1468357046
|
|
NM_004304.5(ALK):c.2667G>C (p.Leu889Phe)
|
rs1664104202
|
|
NM_004304.5(ALK):c.2667G>T (p.Leu889Phe)
|
rs1664104202
|
|
NM_004304.5(ALK):c.266G>C (p.Gly89Ala)
|
rs1558549988
|
|
NM_004304.5(ALK):c.266G>T (p.Gly89Val)
|
|
|
NM_004304.5(ALK):c.2671T>C (p.Trp891Arg)
|
|
|
NM_004304.5(ALK):c.2674G>A (p.Ala892Thr)
|
|
|
NM_004304.5(ALK):c.2674dup (p.Ala892fs)
|
|
|
NM_004304.5(ALK):c.2675C>A (p.Ala892Asp)
|
|
|
NM_004304.5(ALK):c.2677G>C (p.Gly893Arg)
|
rs764014697
|
|
NM_004304.5(ALK):c.2682dup (p.Ser895fs)
|
rs1664103646
|
|
NM_004304.5(ALK):c.2687T>C (p.Leu896Ser)
|
|
|
NM_004304.5(ALK):c.2688G>C (p.Leu896Phe)
|
|
|
NM_004304.5(ALK):c.2692G>A (p.Glu898Lys)
|
rs1374366049
|
|
NM_004304.5(ALK):c.2694G>C (p.Glu898Asp)
|
|
|
NM_004304.5(ALK):c.2699C>T (p.Ala900Val)
|
|
|
NM_004304.5(ALK):c.269C>T (p.Ser90Leu)
|
|
|
NM_004304.5(ALK):c.26T>G (p.Leu9Arg)
|
rs764671855
|
|
NM_004304.5(ALK):c.26_27delinsCG (p.Leu9Pro)
|
rs1558550306
|
|
NM_004304.5(ALK):c.2702C>T (p.Thr901Ile)
|
|
|
NM_004304.5(ALK):c.2702_2711del (p.Thr901fs)
|
rs1664102433
|
|
NM_004304.5(ALK):c.2703C>G (p.Thr901=)
|
|
|
NM_004304.5(ALK):c.270_297dup (p.Arg100fs)
|
rs1553380382
|
|
NM_004304.5(ALK):c.2711A>C (p.His904Pro)
|
|
|
NM_004304.5(ALK):c.2716_2717insTT (p.Cys906fs)
|
rs2148180615
|
|
NM_004304.5(ALK):c.2722dup (p.Gln908fs)
|
|
|
NM_004304.5(ALK):c.2724G>C (p.Gln908His)
|
rs1441852921
|
|
NM_004304.5(ALK):c.2725G>A (p.Ala909Thr)
|
rs2148180596
|
|
NM_004304.5(ALK):c.2726C>A (p.Ala909Asp)
|
rs1664101854
|
|
NM_004304.5(ALK):c.272T>A (p.Leu91Gln)
|
|
|
NM_004304.5(ALK):c.2731A>C (p.Lys911Gln)
|
rs1664101526
|
|
NM_004304.5(ALK):c.2732A>G (p.Lys911Arg)
|
rs1664101463
|
|
NM_004304.5(ALK):c.2738G>A (p.Trp913Ter)
|
rs1280277994
|
|
NM_004304.5(ALK):c.2740G>C (p.Gly914Arg)
|
rs1220052371
|
|
NM_004304.5(ALK):c.2741G>A (p.Gly914Glu)
|
|
|
NM_004304.5(ALK):c.2741G>C (p.Gly914Ala)
|
|
|
NM_004304.5(ALK):c.2741G>T (p.Gly914Val)
|
|
|
NM_004304.5(ALK):c.2742dup (p.Trp915fs)
|
|
|
NM_004304.5(ALK):c.2744G>A (p.Trp915Ter)
|
|
|
NM_004304.5(ALK):c.2744G>C (p.Trp915Ser)
|
rs1241864472
|
|
NM_004304.5(ALK):c.2746G>A (p.Glu916Lys)
|
rs2148180551
|
|
NM_004304.5(ALK):c.2747A>G (p.Glu916Gly)
|
|
|
NM_004304.5(ALK):c.2749A>G (p.Thr917Ala)
|
rs2148180542
|
|
NM_004304.5(ALK):c.2753G>C (p.Arg918Thr)
|
|
|
NM_004304.5(ALK):c.2755G>A (p.Gly919Arg)
|
rs1664099541
|
|
NM_004304.5(ALK):c.2755G>T (p.Gly919Trp)
|
rs1664099541
|
|
NM_004304.5(ALK):c.275C>G (p.Ala92Gly)
|
rs1667961757
|
|
NM_004304.5(ALK):c.275C>T (p.Ala92Val)
|
rs1667961757
|
|
NM_004304.5(ALK):c.2767G>A (p.Gly923Arg)
|
rs1664097953
|
|
NM_004304.5(ALK):c.2768_2769delinsAA (p.Gly923Glu)
|
|
|
NM_004304.5(ALK):c.2771G>A (p.Gly924Asp)
|
rs75861155
|
|
NM_004304.5(ALK):c.2776G>T (p.Gly926Trp)
|
rs1664097034
|
|
NM_004304.5(ALK):c.2778G>T (p.Gly926=)
|
rs1664096879
|
|
NM_004304.5(ALK):c.2778_2798del (p.Cys928_Gly934del)
|
rs1664095568
|
|
NM_004304.5(ALK):c.2780G>C (p.Gly927Ala)
|
rs2148180455
|
|
NM_004304.5(ALK):c.2780G>T (p.Gly927Val)
|
rs2148180455
|
|
NM_004304.5(ALK):c.2781del (p.Cys928fs)
|
rs772809305
|
|
NM_004304.5(ALK):c.2782T>C (p.Cys928Arg)
|
rs1664096277
|
|
NM_004304.5(ALK):c.2784C>G (p.Cys928Trp)
|
rs1553395572
|
|
NM_004304.5(ALK):c.2784CTC[1] (p.Ser930del)
|
|
|
NM_004304.5(ALK):c.2785T>G (p.Ser929Ala)
|
|
|
NM_004304.5(ALK):c.2786C>G (p.Ser929Cys)
|
rs752568687
|
|
NM_004304.5(ALK):c.2786C>T (p.Ser929Phe)
|
rs752568687
|
|
NM_004304.5(ALK):c.2789C>G (p.Ser930Ter)
|
rs767777102
|
|
NM_004304.5(ALK):c.2795G>C (p.Gly932Ala)
|
rs755261455
|
|
NM_004304.5(ALK):c.2796AGG[1] (p.Gly936del)
|
|
|
NM_004304.5(ALK):c.2798del (p.Gly933fs)
|
rs1664095457
|
|
NM_004304.5(ALK):c.280G>C (p.Asp94His)
|
rs1060500234
|
|
NM_004304.5(ALK):c.280G>T (p.Asp94Tyr)
|
rs1060500234
|
|
NM_004304.5(ALK):c.2815G>A (p.Gly939Ser)
|
|
|
NM_004304.5(ALK):c.2816-15T>C
|
|
|
NM_004304.5(ALK):c.2816-1G>A
|
|
|
NM_004304.5(ALK):c.2816-2A>C
|
rs1664047349
|
|
NM_004304.5(ALK):c.2816-4T>A
|
|
|
NM_004304.5(ALK):c.2816-6A>T
|
|
|
NM_004304.5(ALK):c.2818G>A (p.Gly940Ser)
|
rs372008367
|
|
NM_004304.5(ALK):c.2818G>T (p.Gly940Cys)
|
rs372008367
|
|
NM_004304.5(ALK):c.2820C>T (p.Gly940=)
|
|
|
NM_004304.5(ALK):c.2823T>A (p.Asn941Lys)
|
|
|
NM_004304.5(ALK):c.2824G>A (p.Ala942Thr)
|
rs1664046731
|
|
NM_004304.5(ALK):c.2825C>T (p.Ala942Val)
|
rs2148179408
|
|
NM_004304.5(ALK):c.2827G>C (p.Ala943Pro)
|
|
|
NM_004304.5(ALK):c.282C>G (p.Asp94Glu)
|
rs1558549961
|
|
NM_004304.5(ALK):c.2834_2837del (p.Asn945fs)
|
rs1239836109
|
|
NM_004304.5(ALK):c.2836A>G (p.Asn946Asp)
|
rs1573132720
|
|
NM_004304.5(ALK):c.2836_2838del (p.Asn946del)
|
rs1664046295
|
|
NM_004304.5(ALK):c.2837A>G (p.Asn946Ser)
|
|
|
NM_004304.5(ALK):c.2842C>G (p.Pro948Ala)
|
rs764482518
|
|
NM_004304.5(ALK):c.2842C>T (p.Pro948Ser)
|
rs764482518
|
|
NM_004304.5(ALK):c.2847A>C (p.Glu949Asp)
|
|
|
NM_004304.5(ALK):c.2848A>G (p.Met950Val)
|
|
|
NM_004304.5(ALK):c.2849T>C (p.Met950Thr)
|
|
|
NM_004304.5(ALK):c.2851G>T (p.Asp951Tyr)
|
|
|
NM_004304.5(ALK):c.2857G>A (p.Glu953Lys)
|
rs1664045661
|
|
NM_004304.5(ALK):c.2860G>A (p.Asp954Asn)
|
|
|
NM_004304.5(ALK):c.2865G>A (p.Gly955=)
|
|
|
NM_004304.5(ALK):c.2866G>A (p.Val956Ile)
|
rs769837053
|
|
NM_004304.5(ALK):c.2866G>T (p.Val956Phe)
|
|
|
NM_004304.5(ALK):c.2874C>T (p.Phe958=)
|
|
|
NM_004304.5(ALK):c.2875A>C (p.Ile959Leu)
|
|
|
NM_004304.5(ALK):c.2878A>G (p.Ser960Gly)
|
|
|
NM_004304.5(ALK):c.2879G>T (p.Ser960Ile)
|
|
|
NM_004304.5(ALK):c.2879_2884delinsT (p.Ser960fs)
|
rs1558626541
|
|
NM_004304.5(ALK):c.2881C>G (p.Pro961Ala)
|
rs1664044463
|
|
NM_004304.5(ALK):c.2881_2885del (p.Pro961fs)
|
rs1317343191
|
|
NM_004304.5(ALK):c.2886G>A (p.Leu962=)
|
rs1573132628
|
|
NM_004304.5(ALK):c.2887G>A (p.Gly963Ser)
|
|
|
NM_004304.5(ALK):c.2888G>C (p.Gly963Ala)
|
|
|
NM_004304.5(ALK):c.2888dup (p.Ile964fs)
|
|
|
NM_004304.5(ALK):c.2890A>T (p.Ile964Phe)
|
rs2148179307
|
|
NM_004304.5(ALK):c.2891T>A (p.Ile964Asn)
|
rs768623350
|
|
NM_004304.5(ALK):c.2893C>A (p.Leu965Met)
|
|
|
NM_004304.5(ALK):c.2897del (p.Tyr966fs)
|
|
|
NM_004304.5(ALK):c.2901C>A (p.Thr967=)
|
rs886055930
|
|
NM_004304.5(ALK):c.2903C>T (p.Pro968Leu)
|
|
|
NM_004304.5(ALK):c.290C>T (p.Pro97Leu)
|
|
|
NM_004304.5(ALK):c.2914+4G>A
|
rs1573132557
|
|
NM_004304.5(ALK):c.2915-12_2915-9del
|
|
|
NM_004304.5(ALK):c.2917A>G (p.Met973Val)
|
rs1664022726
|
|
NM_004304.5(ALK):c.2919G>A (p.Met973Ile)
|
rs2148178726
|
|
NM_004304.5(ALK):c.2924G>T (p.Gly975Val)
|
rs1472378906
|
|
NM_004304.5(ALK):c.2926C>T (p.His976Tyr)
|
rs1664022542
|
|
NM_004304.5(ALK):c.2927A>C (p.His976Pro)
|
|
|
NM_004304.5(ALK):c.2928C>A (p.His976Gln)
|
|
|
NM_004304.5(ALK):c.2929G>T (p.Gly977Trp)
|
|
|
NM_004304.5(ALK):c.2947C>T (p.His983Tyr)
|
|
|
NM_004304.5(ALK):c.2948A>G (p.His983Arg)
|
|
|
NM_004304.5(ALK):c.2950T>C (p.Tyr984His)
|
rs1573131855
|
|
NM_004304.5(ALK):c.2952T>G (p.Tyr984Ter)
|
rs1558626238
|
|
NM_004304.5(ALK):c.295C>T (p.Leu99Phe)
|
rs1165577510
|
|
NM_004304.5(ALK):c.2962A>C (p.Ser988Arg)
|
rs2148178601
|
|
NM_004304.5(ALK):c.2965C>A (p.His989Asn)
|
|
|
NM_004304.5(ALK):c.2965C>T (p.His989Tyr)
|
rs1664021582
|
|
NM_004304.5(ALK):c.2970_2971del (p.Cys990_Glu991delinsTer)
|
|
|
NM_004304.5(ALK):c.2977G>A (p.Asp993Asn)
|
|
|
NM_004304.5(ALK):c.2977G>C (p.Asp993His)
|
|
|
NM_004304.5(ALK):c.2978A>G (p.Asp993Gly)
|
rs1451931405
|
|
NM_004304.5(ALK):c.2978A>T (p.Asp993Val)
|
rs1451931405
|
|
NM_004304.5(ALK):c.2979C>A (p.Asp993Glu)
|
rs761999849
|
|
NM_004304.5(ALK):c.2982dup (p.Cys995fs)
|
|
|
NM_004304.5(ALK):c.2988dup (p.Met997fs)
|
rs1573131798
|
|
NM_004304.5(ALK):c.2989A>G (p.Met997Val)
|
|
|
NM_004304.5(ALK):c.2990T>A (p.Met997Lys)
|
|
|
NM_004304.5(ALK):c.2990T>C (p.Met997Thr)
|
|
|
NM_004304.5(ALK):c.2992G>A (p.Asp998Asn)
|
|
|
NM_004304.5(ALK):c.2993A>C (p.Asp998Ala)
|
rs1664020706
|
|
NM_004304.5(ALK):c.2993A>T (p.Asp998Val)
|
|
|
NM_004304.5(ALK):c.2996C>T (p.Pro999Leu)
|
|
|
NM_004304.5(ALK):c.2998G>C (p.Glu1000Gln)
|
rs1664020327
|
|
NM_004304.5(ALK):c.299G>A (p.Arg100Lys)
|
|
|
NM_004304.5(ALK):c.2T>C (p.Met1Thr)
|
|
|
NM_004304.5(ALK):c.3001A>G (p.Ser1001Gly)
|
|
|
NM_004304.5(ALK):c.3005A>C (p.His1002Pro)
|
rs760587817
|
|
NM_004304.5(ALK):c.3007A>C (p.Lys1003Gln)
|
|
|
NM_004304.5(ALK):c.3008A>G (p.Lys1003Arg)
|
|
|
NM_004304.5(ALK):c.3011T>C (p.Val1004Ala)
|
rs2148178460
|
|
NM_004304.5(ALK):c.3013A>G (p.Ile1005Val)
|
rs1664019256
|
|
NM_004304.5(ALK):c.3017G>T (p.Cys1006Phe)
|
rs1553395221
|
|
NM_004304.5(ALK):c.3019T>G (p.Phe1007Val)
|
rs1573131702
|
|
NM_004304.5(ALK):c.3020T>C (p.Phe1007Ser)
|
rs1558626190
|
|
NM_004304.5(ALK):c.3027C>A (p.Asp1009Glu)
|
|
|
NM_004304.5(ALK):c.302_323del (p.Leu101fs)
|
|
|
NM_004304.5(ALK):c.3031G>C (p.Gly1011Arg)
|
|
|
NM_004304.5(ALK):c.3036_3037delinsAT (p.Val1013Leu)
|
rs2148178369
|
|
NM_004304.5(ALK):c.3037G>T (p.Val1013Leu)
|
|
|
NM_004304.5(ALK):c.3043G>A (p.Ala1015Thr)
|
|
|
NM_004304.5(ALK):c.3043G>T (p.Ala1015Ser)
|
rs1263029598
|
|
NM_004304.5(ALK):c.3052G>A (p.Gly1018Ser)
|
rs1060500212
|
|
NM_004304.5(ALK):c.3055G>T (p.Val1019Phe)
|
rs76742576
|
|
NM_004304.5(ALK):c.305T>A (p.Leu102Gln)
|
|
|
NM_004304.5(ALK):c.3062G>C (p.Cys1021Ser)
|
|
|
NM_004304.5(ALK):c.3064A>G (p.Ile1022Val)
|
|
|
NM_004304.5(ALK):c.3065T>A (p.Ile1022Asn)
|
|
|
NM_004304.5(ALK):c.3065T>G (p.Ile1022Ser)
|
rs778643763
|
|
NM_004304.5(ALK):c.3067+10C>T
|
rs1553395203
|
|
NM_004304.5(ALK):c.3067+1G>T
|
rs2148178263
|
|
NM_004304.5(ALK):c.3067+6G>T
|
rs1573131521
|
|
NM_004304.5(ALK):c.3067G>C (p.Val1023Leu)
|
|
|
NM_004304.5(ALK):c.3068-19A>G
|
|
|
NM_004304.5(ALK):c.3068-7C>A
|
|
|
NM_004304.5(ALK):c.3068-8T>C
|
|
|
NM_004304.5(ALK):c.3068T>G (p.Val1023Gly)
|
|
|
NM_004304.5(ALK):c.3076A>C (p.Thr1026Pro)
|
rs781515382
|
|
NM_004304.5(ALK):c.3077C>A (p.Thr1026Asn)
|
|
|
NM_004304.5(ALK):c.307G>A (p.Gly103Arg)
|
rs1321334043
|
|
NM_004304.5(ALK):c.3080C>A (p.Pro1027Gln)
|
|
|
NM_004304.5(ALK):c.3082del (p.Glu1028fs)
|
rs1663951981
|
|
NM_004304.5(ALK):c.3085C>T (p.Pro1029Ser)
|
|
|
NM_004304.5(ALK):c.3088C>T (p.His1030Tyr)
|
rs1284585137
|
|
NM_004304.5(ALK):c.3089_3090delinsTT (p.His1030Leu)
|
|
|
NM_004304.5(ALK):c.308G>A (p.Gly103Glu)
|
rs1667960211
|
|
NM_004304.5(ALK):c.3090C>A (p.His1030Gln)
|
rs1663946773
|
|
NM_004304.5(ALK):c.3095C>A (p.Pro1032Gln)
|
rs752256731
|
|
NM_004304.5(ALK):c.3098T>C (p.Leu1033Pro)
|
rs572614173
|
|
NM_004304.5(ALK):c.3098T>G (p.Leu1033Arg)
|
rs572614173
|
|
NM_004304.5(ALK):c.3101C>A (p.Ser1034Ter)
|
rs900240239
|
|
NM_004304.5(ALK):c.3101C>G (p.Ser1034Trp)
|
rs900240239
|
|
NM_004304.5(ALK):c.3101C>T (p.Ser1034Leu)
|
rs900240239
|
|
NM_004304.5(ALK):c.3106A>G (p.Ile1036Val)
|
rs1663944530
|
|
NM_004304.5(ALK):c.3107T>A (p.Ile1036Asn)
|
rs1663944377
|
|
NM_004304.5(ALK):c.310C>A (p.Pro104Thr)
|
rs576431612
|
|
NM_004304.5(ALK):c.310C>G (p.Pro104Ala)
|
rs576431612
|
|
NM_004304.5(ALK):c.3111_3114del (p.Ser1038fs)
|
rs750796687
|
|
NM_004304.5(ALK):c.3115G>C (p.Val1039Leu)
|
rs200080181
|
|
NM_004304.5(ALK):c.3115G>T (p.Val1039Leu)
|
rs200080181
|
|
NM_004304.5(ALK):c.3116T>C (p.Val1039Ala)
|
rs1663943658
|
|
NM_004304.5(ALK):c.3118G>A (p.Val1040Met)
|
rs763143588
|
|
NM_004304.5(ALK):c.3118G>T (p.Val1040Leu)
|
rs763143588
|
|
NM_004304.5(ALK):c.3119T>G (p.Val1040Gly)
|
|
|
NM_004304.5(ALK):c.311C>G (p.Pro104Arg)
|
|
|
NM_004304.5(ALK):c.3121A>G (p.Thr1041Ala)
|
|
|
NM_004304.5(ALK):c.3122C>T (p.Thr1041Ile)
|
rs1365149175
|
|
NM_004304.5(ALK):c.3130C>T (p.Leu1044Phe)
|
rs1573128815
|
|
NM_004304.5(ALK):c.3133G>C (p.Val1045Leu)
|
rs200641396
|
|
NM_004304.5(ALK):c.3133_3147del (p.Val1045_Val1049del)
|
rs1573128739
|
|
NM_004304.5(ALK):c.3134T>C (p.Val1045Ala)
|
rs1573128792
|
|
NM_004304.5(ALK):c.3139G>C (p.Ala1047Pro)
|
|
|
NM_004304.5(ALK):c.313G>A (p.Ala105Thr)
|
rs1553380367
|
|
NM_004304.5(ALK):c.3140C>G (p.Ala1047Gly)
|
rs1217558142
|
|
NM_004304.5(ALK):c.3145G>A (p.Val1049Ile)
|
rs143452915
|
|
NM_004304.5(ALK):c.314C>A (p.Ala105Glu)
|
rs772569032
|
|
NM_004304.5(ALK):c.314C>G (p.Ala105Gly)
|
|
|
NM_004304.5(ALK):c.314C>T (p.Ala105Val)
|
|
|
NM_004304.5(ALK):c.3151G>T (p.Ala1051Ser)
|
|
|
NM_004304.5(ALK):c.3154T>G (p.Phe1052Val)
|
rs1663940813
|
|
NM_004304.5(ALK):c.3157T>C (p.Ser1053Pro)
|
|
|
NM_004304.5(ALK):c.3158C>T (p.Ser1053Phe)
|
rs1663940716
|
|
NM_004304.5(ALK):c.3161G>A (p.Gly1054Asp)
|
rs2148176315
|
|
NM_004304.5(ALK):c.3161G>T (p.Gly1054Val)
|
rs2148176315
|
|
NM_004304.5(ALK):c.3163A>T (p.Ile1055Phe)
|
rs755804208
|
|
NM_004304.5(ALK):c.3167T>C (p.Met1056Thr)
|
rs2148176295
|
|
NM_004304.5(ALK):c.3168G>A (p.Met1056Ile)
|
rs1663940304
|
|
NM_004304.5(ALK):c.3172+1G>A
|
rs1558625168
|
|
NM_004304.5(ALK):c.3172+6T>C
|
rs2148176274
|
|
NM_004304.5(ALK):c.3173-3C>G
|
rs898517103
|
|
NM_004304.5(ALK):c.3173-7C>G
|
|
|
NM_004304.5(ALK):c.3178C>T (p.Arg1060Cys)
|
rs774836034
|
|
NM_004304.5(ALK):c.317C>T (p.Pro106Leu)
|
rs1037485859
|
|
NM_004304.5(ALK):c.317dup (p.Val108fs)
|
rs2148443529
|
|
NM_004304.5(ALK):c.3181C>A (p.Arg1061=)
|
rs371521416
|
|
NM_004304.5(ALK):c.3184A>G (p.Lys1062Glu)
|
rs2148171179
|
|
NM_004304.5(ALK):c.3187C>A (p.His1063Asn)
|
|
|
NM_004304.5(ALK):c.3187C>T (p.His1063Tyr)
|
rs1669867065
|
|
NM_004304.5(ALK):c.3193_3251dup (p.Arg1084_Thr1085insSerCysLysProCysArgTrpSerCysArgAlaLeuSerThrSerTer)
|
rs2148170992
|
|
NM_004304.5(ALK):c.3197T>G (p.Leu1066Arg)
|
|
|
NM_004304.5(ALK):c.31C>T (p.Pro11Ser)
|
|
|
NM_004304.5(ALK):c.3203C>T (p.Ala1068Val)
|
rs754439273
|
|
NM_004304.5(ALK):c.3205A>G (p.Met1069Val)
|
|
|
NM_004304.5(ALK):c.320G>A (p.Gly107Glu)
|
rs762635291
|
|
NM_004304.5(ALK):c.3210G>C (p.Gln1070His)
|
|
|
NM_004304.5(ALK):c.3212T>C (p.Met1071Thr)
|
rs1669865941
|
|
NM_004304.5(ALK):c.3213G>A (p.Met1071Ile)
|
rs1241116907
|
|
NM_004304.5(ALK):c.3218T>C (p.Leu1073Pro)
|
|
|
NM_004304.5(ALK):c.3225C>A (p.Ser1075Arg)
|
rs1669865494
|
|
NM_004304.5(ALK):c.3229G>A (p.Glu1077Lys)
|
rs1553394491
|
|
NM_004304.5(ALK):c.3229G>C (p.Glu1077Gln)
|
|
|
NM_004304.5(ALK):c.3229G>T (p.Glu1077Ter)
|
rs1553394491
|
|
NM_004304.5(ALK):c.322G>T (p.Val108Phe)
|
rs1338077965
|
|
NM_004304.5(ALK):c.3243C>A (p.Ser1081Arg)
|
rs1669864463
|
|
NM_004304.5(ALK):c.3243C>G (p.Ser1081Arg)
|
rs1669864463
|
|
NM_004304.5(ALK):c.3247C>A (p.Leu1083Ile)
|
|
|
NM_004304.5(ALK):c.3248T>C (p.Leu1083Pro)
|
|
|
NM_004304.5(ALK):c.3254C>A (p.Thr1085Asn)
|
rs1460007760
|
|
NM_004304.5(ALK):c.325T>C (p.Ser109Pro)
|
rs1572503443
|
|
NM_004304.5(ALK):c.3260C>A (p.Thr1087Asn)
|
rs113994090
|
|
NM_004304.5(ALK):c.3260C>G (p.Thr1087Ser)
|
rs113994090
|
|
NM_004304.5(ALK):c.3262A>G (p.Ile1088Val)
|
rs1060500228
|
|
NM_004304.5(ALK):c.3265A>G (p.Met1089Val)
|
|
|
NM_004304.5(ALK):c.3266T>C (p.Met1089Thr)
|
rs925658268
|
|
NM_004304.5(ALK):c.3267G>A (p.Met1089Ile)
|
rs1573125389
|
|
NM_004304.5(ALK):c.326C>T (p.Ser109Phe)
|
|
|
NM_004304.5(ALK):c.3272A>G (p.Asp1091Gly)
|
|
|
NM_004304.5(ALK):c.3281C>T (p.Pro1094Leu)
|
|
|
NM_004304.5(ALK):c.3287_3292del (p.Tyr1096_Cys1097del)
|
|
|
NM_004304.5(ALK):c.3289T>C (p.Cys1097Arg)
|
rs1553394453
|
|
NM_004304.5(ALK):c.328T>A (p.Trp110Arg)
|
rs1572503431
|
|
NM_004304.5(ALK):c.328T>C (p.Trp110Arg)
|
rs1572503431
|
|
NM_004304.5(ALK):c.3291C>G (p.Cys1097Trp)
|
|
|
NM_004304.5(ALK):c.3294T>A (p.Phe1098Leu)
|
rs566982691
|
|
NM_004304.5(ALK):c.3295G>A (p.Ala1099Thr)
|
rs1669861611
|
|
NM_004304.5(ALK):c.3299G>A (p.Gly1100Asp)
|
rs1669861474
|
|
NM_004304.5(ALK):c.3305C>A (p.Thr1102Asn)
|
|
|
NM_004304.5(ALK):c.3305C>G (p.Thr1102Ser)
|
|
|
NM_004304.5(ALK):c.3307T>C (p.Ser1103Pro)
|
rs1669861057
|
|
NM_004304.5(ALK):c.3307T>G (p.Ser1103Ala)
|
|
|
NM_004304.5(ALK):c.3307TCC[1] (p.Ser1104del)
|
rs1338813327
|
|
NM_004304.5(ALK):c.330G>T (p.Trp110Cys)
|
|
|
NM_004304.5(ALK):c.3310T>A (p.Ser1104Thr)
|
rs759935726
|
|
NM_004304.5(ALK):c.3310T>C (p.Ser1104Pro)
|
|
|
NM_004304.5(ALK):c.3314_3316dup (p.Ile1105dup)
|
rs1373907084
|
|
NM_004304.5(ALK):c.3316A>C (p.Ser1106Arg)
|
|
|
NM_004304.5(ALK):c.3321C>A (p.Asp1107Glu)
|
rs1553394438
|
|
NM_004304.5(ALK):c.3322C>A (p.Leu1108Met)
|
|
|
NM_004304.5(ALK):c.3322C>G (p.Leu1108Val)
|
rs1669860335
|
|
NM_004304.5(ALK):c.3328G>A (p.Glu1110Lys)
|
|
|
NM_004304.5(ALK):c.332C>G (p.Thr111Ser)
|
|
|
NM_004304.5(ALK):c.332C>T (p.Thr111Ile)
|
rs1667958706
|
|
NM_004304.5(ALK):c.3331G>A (p.Val1111Met)
|
|
|
NM_004304.5(ALK):c.3332T>C (p.Val1111Ala)
|
rs558282902
|
|
NM_004304.5(ALK):c.3334C>A (p.Pro1112Thr)
|
|
|
NM_004304.5(ALK):c.3334C>G (p.Pro1112Ala)
|
|
|
NM_004304.5(ALK):c.3334C>T (p.Pro1112Ser)
|
rs2148170705
|
|
NM_004304.5(ALK):c.3337C>G (p.Arg1113Gly)
|
rs773583710
|
|
NM_004304.5(ALK):c.3337C>T (p.Arg1113Trp)
|
rs773583710
|
|
NM_004304.5(ALK):c.3341A>G (p.Lys1114Arg)
|
|
|
NM_004304.5(ALK):c.334G>A (p.Ala112Thr)
|
rs1060500227
|
|
NM_004304.5(ALK):c.334G>C (p.Ala112Pro)
|
rs1060500227
|
|
NM_004304.5(ALK):c.3350C>A (p.Thr1117Asn)
|
rs1669859051
|
|
NM_004304.5(ALK):c.3350C>T (p.Thr1117Ile)
|
rs1669859051
|
|
NM_004304.5(ALK):c.3352C>G (p.Leu1118Val)
|
rs1472845031
|
|
NM_004304.5(ALK):c.3352C>T (p.Leu1118Phe)
|
|
|
NM_004304.5(ALK):c.3358C>A (p.Arg1120=)
|
rs774951734
|
|
NM_004304.5(ALK):c.3359+1G>A
|
rs1669858309
|
|
NM_004304.5(ALK):c.3359+1G>T
|
rs1669858309
|
|
NM_004304.5(ALK):c.3359+3G>A
|
|
|
NM_004304.5(ALK):c.3359+4A>G
|
rs1573125072
|
|
NM_004304.5(ALK):c.3359G>A (p.Arg1120Gln)
|
rs374188635
|
|
NM_004304.5(ALK):c.3360-1G>A
|
rs1573123877
|
|
NM_004304.5(ALK):c.3360-1G>T
|
rs1573123877
|
|
NM_004304.5(ALK):c.3360-3C>T
|
rs1464715041
|
|
NM_004304.5(ALK):c.3360G>A (p.Arg1120=)
|
rs747985440
|
|
NM_004304.5(ALK):c.3362G>T (p.Gly1121Val)
|
|
|
NM_004304.5(ALK):c.3376G>C (p.Ala1126Pro)
|
|
|
NM_004304.5(ALK):c.3377C>A (p.Ala1126Asp)
|
|
|
NM_004304.5(ALK):c.337G>A (p.Gly113Ser)
|
rs748952373
|
|
NM_004304.5(ALK):c.337G>C (p.Gly113Arg)
|
|
|
NM_004304.5(ALK):c.3380T>C (p.Phe1127Ser)
|
|
|
NM_004304.5(ALK):c.3383G>A (p.Gly1128Glu)
|
|
|
NM_004304.5(ALK):c.3385G>A (p.Glu1129Lys)
|
|
|
NM_004304.5(ALK):c.3387G>T (p.Glu1129Asp)
|
|
|
NM_004304.5(ALK):c.3388G>A (p.Val1130Met)
|
rs1060500215
|
|
NM_004304.5(ALK):c.3388G>T (p.Val1130Leu)
|
rs1060500215
|
|
NM_004304.5(ALK):c.338G>A (p.Gly113Asp)
|
|
|
NM_004304.5(ALK):c.338G>T (p.Gly113Val)
|
rs1479433859
|
|
NM_004304.5(ALK):c.3391T>G (p.Tyr1131Asp)
|
|
|
NM_004304.5(ALK):c.3392_3406del (p.Tyr1131_Val1135del)
|
rs2148169260
|
|
NM_004304.5(ALK):c.3398G>T (p.Gly1133Val)
|
rs773881309
|
|
NM_004304.5(ALK):c.3399C>T (p.Gly1133=)
|
rs1294436101
|
|
NM_004304.5(ALK):c.3401A>T (p.Gln1134Leu)
|
rs1172239019
|
|
NM_004304.5(ALK):c.3403G>T (p.Val1135Leu)
|
rs2148169270
|
|
NM_004304.5(ALK):c.3404T>C (p.Val1135Ala)
|
rs2148169266
|
|
NM_004304.5(ALK):c.3406T>G (p.Ser1136Ala)
|
rs1669834540
|
|
NM_004304.5(ALK):c.3409G>C (p.Gly1137Arg)
|
rs762571775
|
|
NM_004304.5(ALK):c.340del (p.Ser114fs)
|
rs1667958140
|
|
NM_004304.5(ALK):c.3410G>A (p.Gly1137Glu)
|
rs1669834120
|
|
NM_004304.5(ALK):c.3413T>C (p.Met1138Thr)
|
rs2148169223
|
|
NM_004304.5(ALK):c.3414G>A (p.Met1138Ile)
|
|
|
NM_004304.5(ALK):c.3419A>G (p.Asn1140Ser)
|
rs2148169203
|
|
NM_004304.5(ALK):c.3420C>A (p.Asn1140Lys)
|
rs150785816
|
|
NM_004304.5(ALK):c.3420C>G (p.Asn1140Lys)
|
rs150785816
|
|
NM_004304.5(ALK):c.3428G>T (p.Ser1143Ile)
|
rs1669833411
|
|
NM_004304.5(ALK):c.3431C>G (p.Pro1144Arg)
|
|
|
NM_004304.5(ALK):c.3436C>A (p.Gln1146Lys)
|
rs2148169149
|
|
NM_004304.5(ALK):c.3437A>T (p.Gln1146Leu)
|
|
|
NM_004304.5(ALK):c.3439G>C (p.Val1147Leu)
|
rs1378239568
|
|
NM_004304.5(ALK):c.3440T>C (p.Val1147Ala)
|
rs1669832761
|
|
NM_004304.5(ALK):c.3445G>A (p.Val1149Met)
|
|
|
NM_004304.5(ALK):c.3445G>C (p.Val1149Leu)
|
rs1669832449
|
|
NM_004304.5(ALK):c.3445_3450+13dup
|
|
|
NM_004304.5(ALK):c.3446T>C (p.Val1149Ala)
|
|
|
NM_004304.5(ALK):c.3449A>C (p.Lys1150Thr)
|
rs2148169104
|
|
NM_004304.5(ALK):c.344C>G (p.Pro115Arg)
|
rs1222939884
|
|
NM_004304.5(ALK):c.3450+3A>G
|
|
|
NM_004304.5(ALK):c.3450+5G>A
|
|
|
NM_004304.5(ALK):c.3450+6A>G
|
|
|
NM_004304.5(ALK):c.3450+6_3450+7delinsTG
|
rs2148169081
|
|
NM_004304.5(ALK):c.3450+6_3450+8del
|
rs2148169076
|
|
NM_004304.5(ALK):c.3450G>A (p.Lys1150=)
|
rs1558622960
|
|
NM_004304.5(ALK):c.3450_3450+1delinsTT
|
rs1553394254
|
|
NM_004304.5(ALK):c.3451A>C (p.Thr1151Pro)
|
rs1669828114
|
|
NM_004304.5(ALK):c.3458C>G (p.Pro1153Arg)
|
rs917295547
|
|
NM_004304.5(ALK):c.3460G>A (p.Glu1154Lys)
|
rs1005846150
|
|
NM_004304.5(ALK):c.3460G>C (p.Glu1154Gln)
|
rs1005846150
|
|
NM_004304.5(ALK):c.3461A>C (p.Glu1154Ala)
|
rs1669827472
|
|
NM_004304.5(ALK):c.3464T>C (p.Val1155Ala)
|
rs1669827315
|
|
NM_004304.5(ALK):c.3466T>G (p.Cys1156Gly)
|
|
|
NM_004304.5(ALK):c.3469T>C (p.Ser1157Pro)
|
rs1669827171
|
|
NM_004304.5(ALK):c.3472G>A (p.Glu1158Lys)
|
rs749951867
|
|
NM_004304.5(ALK):c.347C>A (p.Ala116Asp)
|
rs1572503383
|
|
NM_004304.5(ALK):c.347C>T (p.Ala116Val)
|
rs1572503383
|
|
NM_004304.5(ALK):c.347_357del (p.Ala116fs)
|
rs1572503347
|
|
NM_004304.5(ALK):c.3481_3482delinsAC (p.Glu1161Thr)
|
rs1553394207
|
|
NM_004304.5(ALK):c.3487G>C (p.Asp1163His)
|
rs753670250
|
|
NM_004304.5(ALK):c.3499G>A (p.Glu1167Lys)
|
|
|
NM_004304.5(ALK):c.3507_3509del (p.Ile1171del)
|
|
|
NM_004304.5(ALK):c.3509T>A (p.Ile1170Asn)
|
rs1553394197
|
|
NM_004304.5(ALK):c.350C>T (p.Pro117Leu)
|
rs201290745
|
|
NM_004304.5(ALK):c.3514A>C (p.Ser1172Arg)
|
|
|
NM_004304.5(ALK):c.3514A>T (p.Ser1172Cys)
|
rs1669825339
|
|
NM_004304.5(ALK):c.3515+2T>C
|
|
|
NM_004304.5(ALK):c.3516-10T>A
|
rs2148166765
|
|
NM_004304.5(ALK):c.3516-1G>A
|
|
|
NM_004304.5(ALK):c.3516-2A>C
|
|
|
NM_004304.5(ALK):c.3526C>A (p.His1176Asn)
|
rs1553393928
|
|
NM_004304.5(ALK):c.3529C>G (p.Gln1177Glu)
|
|
|
NM_004304.5(ALK):c.352G>T (p.Ala118Ser)
|
rs1383948379
|
|
NM_004304.5(ALK):c.3530A>C (p.Gln1177Pro)
|
rs1060500229
|
|
NM_004304.5(ALK):c.3536T>C (p.Ile1179Thr)
|
rs2148166668
|
|
NM_004304.5(ALK):c.3537dup (p.Val1180fs)
|
rs2148166666
|
|
NM_004304.5(ALK):c.3538G>A (p.Val1180Ile)
|
|
|
NM_004304.5(ALK):c.3542G>A (p.Arg1181His)
|
rs1034835558
|
|
NM_004304.5(ALK):c.3545G>A (p.Cys1182Tyr)
|
|
|
NM_004304.5(ALK):c.3549T>G (p.Ile1183Met)
|
rs1573120422
|
|
NM_004304.5(ALK):c.3553del (p.Gly1184_Val1185insTer)
|
|
|
NM_004304.5(ALK):c.3556A>T (p.Ser1186Cys)
|
|
|
NM_004304.5(ALK):c.3557G>A (p.Ser1186Asn)
|
rs755576991
|
|
NM_004304.5(ALK):c.355G>A (p.Glu119Lys)
|
rs1572503350
|
|
NM_004304.5(ALK):c.3563A>G (p.Gln1188Arg)
|
rs1669781212
|
|
NM_004304.5(ALK):c.3569T>C (p.Leu1190Pro)
|
rs1669780974
|
|
NM_004304.5(ALK):c.3571C>A (p.Pro1191Thr)
|
|
|
NM_004304.5(ALK):c.3574C>G (p.Arg1192Gly)
|
rs534852056
|
|
NM_004304.5(ALK):c.3578T>C (p.Phe1193Ser)
|
|
|
NM_004304.5(ALK):c.3579C>G (p.Phe1193Leu)
|
|
|
NM_004304.5(ALK):c.357G>C (p.Glu119Asp)
|
rs758250431
|
|
NM_004304.5(ALK):c.3587T>C (p.Leu1196Pro)
|
rs1669780202
|
|
NM_004304.5(ALK):c.358G>A (p.Ala120Thr)
|
|
|
NM_004304.5(ALK):c.3592C>A (p.Leu1198Ile)
|
rs751306825
|
|
NM_004304.5(ALK):c.3595A>C (p.Met1199Leu)
|
rs1400239417
|
|
NM_004304.5(ALK):c.3597G>A (p.Met1199Ile)
|
rs1669779479
|
|
NM_004304.5(ALK):c.3597G>T (p.Met1199Ile)
|
rs1669779479
|
|
NM_004304.5(ALK):c.3599C>G (p.Ala1200Gly)
|
rs200585833
|
|
NM_004304.5(ALK):c.359C>A (p.Ala120Asp)
|
|
|
NM_004304.5(ALK):c.359C>T (p.Ala120Val)
|
|
|
NM_004304.5(ALK):c.35T>C (p.Leu12Pro)
|
rs1165737526
|
|
NM_004304.5(ALK):c.3601G>A (p.Gly1201Arg)
|
|
|
NM_004304.5(ALK):c.3601G>C (p.Gly1201Arg)
|
rs761333959
|
|
NM_004304.5(ALK):c.3601G>T (p.Gly1201Trp)
|
|
|
NM_004304.5(ALK):c.3602G>A (p.Gly1201Glu)
|
rs1187025942
|
|
NM_004304.5(ALK):c.3602G>C (p.Gly1201Ala)
|
|
|
NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg)
|
rs1057519783
|
|
NM_004304.5(ALK):c.3604G>C (p.Gly1202Arg)
|
|
|
NM_004304.5(ALK):c.3605G>A (p.Gly1202Glu)
|
|
|
NM_004304.5(ALK):c.3605dup (p.Asp1203fs)
|
rs1573120189
|
|
NM_004304.5(ALK):c.3607G>C (p.Asp1203His)
|
rs759845895
|
|
NM_004304.5(ALK):c.3608A>C (p.Asp1203Ala)
|
|
|
NM_004304.5(ALK):c.3608A>G (p.Asp1203Gly)
|
|
|
NM_004304.5(ALK):c.3609C>A (p.Asp1203Glu)
|
rs2148166410
|
|
NM_004304.5(ALK):c.3610C>T (p.Leu1204Phe)
|
|
|
NM_004304.5(ALK):c.3614A>G (p.Lys1205Arg)
|
|
|
NM_004304.5(ALK):c.3616T>G (p.Ser1206Ala)
|
|
|
NM_004304.5(ALK):c.361C>G (p.Arg121Gly)
|
|
|
NM_004304.5(ALK):c.361C>T (p.Arg121Trp)
|
rs746089013
|
|
NM_004304.5(ALK):c.3620T>C (p.Phe1207Ser)
|
|
|
NM_004304.5(ALK):c.3622C>T (p.Leu1208Phe)
|
|
|
NM_004304.5(ALK):c.3626G>C (p.Arg1209Pro)
|
rs747643140
|
|
NM_004304.5(ALK):c.3629A>T (p.Glu1210Val)
|
|
|
NM_004304.5(ALK):c.3631A>C (p.Thr1211Pro)
|
|
|
NM_004304.5(ALK):c.3632C>T (p.Thr1211Ile)
|
|
|
NM_004304.5(ALK):c.3634C>A (p.Arg1212Ser)
|
|
|
NM_004304.5(ALK):c.3635G>A (p.Arg1212His)
|
rs143790259
|
|
NM_004304.5(ALK):c.3635G>C (p.Arg1212Pro)
|
rs143790259
|
|
NM_004304.5(ALK):c.3637C>A (p.Pro1213Thr)
|
|
|
NM_004304.5(ALK):c.3637C>G (p.Pro1213Ala)
|
|
|
NM_004304.5(ALK):c.3643C>T (p.Pro1215Ser)
|
|
|
NM_004304.5(ALK):c.3644C>T (p.Pro1215Leu)
|
rs779222532
|
|
NM_004304.5(ALK):c.3645+2T>G
|
rs1553393848
|
|
NM_004304.5(ALK):c.3645+6_3645+9del
|
rs780363656
|
|
NM_004304.5(ALK):c.3646-11T>C
|
|
|
NM_004304.5(ALK):c.3646-3C>G
|
rs1060500208
|
|
NM_004304.5(ALK):c.3646-3C>T
|
rs1060500208
|
|
NM_004304.5(ALK):c.3649C>G (p.Gln1217Glu)
|
rs1669536093
|
|
NM_004304.5(ALK):c.364A>G (p.Thr122Ala)
|
rs1558549790
|
|
NM_004304.5(ALK):c.3650A>G (p.Gln1217Arg)
|
|
|
NM_004304.5(ALK):c.3653C>G (p.Pro1218Arg)
|
rs1159709305
|
|
NM_004304.5(ALK):c.3653C>T (p.Pro1218Leu)
|
rs1159709305
|
|
NM_004304.5(ALK):c.365C>G (p.Thr122Arg)
|
rs1367800764
|
|
NM_004304.5(ALK):c.3663G>A (p.Leu1221=)
|
rs751889072
|
|
NM_004304.5(ALK):c.3664G>C (p.Ala1222Pro)
|
rs1060500207
|
|
NM_004304.5(ALK):c.3665C>A (p.Ala1222Asp)
|
rs2148159538
|
|
NM_004304.5(ALK):c.3667A>C (p.Met1223Leu)
|
rs1573108993
|
|
NM_004304.5(ALK):c.3667A>T (p.Met1223Leu)
|
rs1573108993
|
|
NM_004304.5(ALK):c.3668T>C (p.Met1223Thr)
|
|
|
NM_004304.5(ALK):c.3676C>T (p.Leu1226Phe)
|
|
|
NM_004304.5(ALK):c.3680T>C (p.Leu1227Pro)
|
rs1669534712
|
|
NM_004304.5(ALK):c.3682C>T (p.His1228Tyr)
|
|
|
NM_004304.5(ALK):c.3684C>A (p.His1228Gln)
|
|
|
NM_004304.5(ALK):c.3684C>G (p.His1228Gln)
|
rs763332339
|
|
NM_004304.5(ALK):c.3685G>A (p.Val1229Met)
|
rs776228721
|
|
NM_004304.5(ALK):c.3688G>A (p.Ala1230Thr)
|
rs375448626
|
|
NM_004304.5(ALK):c.368T>C (p.Leu123Pro)
|
|
|
NM_004304.5(ALK):c.3694G>A (p.Asp1232Asn)
|
|
|
NM_004304.5(ALK):c.3695A>G (p.Asp1232Gly)
|
rs2148159418
|
|
NM_004304.5(ALK):c.3698T>C (p.Ile1233Thr)
|
rs1669533889
|
|
NM_004304.5(ALK):c.3699T>G (p.Ile1233Met)
|
rs1573108910
|
|
NM_004304.5(ALK):c.3701C>T (p.Ala1234Val)
|
rs1573108894
|
|
NM_004304.5(ALK):c.3704G>A (p.Cys1235Tyr)
|
rs2148159392
|
|
NM_004304.5(ALK):c.3707G>A (p.Gly1236Asp)
|
|
|
NM_004304.5(ALK):c.3709_3712dup (p.Gln1238fs)
|
rs2148159371
|
|
NM_004304.5(ALK):c.3712_3715del (p.Gln1238fs)
|
rs750775950
|
|
NM_004304.5(ALK):c.371C>G (p.Ser124Cys)
|
rs2148443409
|
|
NM_004304.5(ALK):c.371C>T (p.Ser124Phe)
|
|
|
NM_004304.5(ALK):c.3721G>A (p.Glu1241Lys)
|
|
|
NM_004304.5(ALK):c.3721G>C (p.Glu1241Gln)
|
|
|
NM_004304.5(ALK):c.3731A>G (p.His1244Arg)
|
rs1553392309
|
|
NM_004304.5(ALK):c.3739del (p.His1247fs)
|
|
|
NM_004304.5(ALK):c.3740A>T (p.His1247Leu)
|
|
|
NM_004304.5(ALK):c.3743+10_3743+11delinsGA
|
|
|
NM_004304.5(ALK):c.3743+1G>A
|
|
|
NM_004304.5(ALK):c.3743+3G>A
|
rs1669532102
|
|
NM_004304.5(ALK):c.3743+3G>T
|
rs1669532102
|
|
NM_004304.5(ALK):c.3744-2A>G
|
rs2148155402
|
|
NM_004304.5(ALK):c.3744-2del
|
|
|
NM_004304.5(ALK):c.3744-7T>C
|
|
|
NM_004304.5(ALK):c.3744A>C (p.Arg1248=)
|
|
|
NM_004304.5(ALK):c.3745G>T (p.Asp1249Tyr)
|
rs1553391522
|
|
NM_004304.5(ALK):c.3748A>G (p.Ile1250Val)
|
|
|
NM_004304.5(ALK):c.3750T>G (p.Ile1250Met)
|
rs760315884
|
|
NM_004304.5(ALK):c.3757_3766del (p.Arg1253fs)
|
rs1669417270
|
|
NM_004304.5(ALK):c.375G>C (p.Arg125Ser)
|
rs1667956255
|
|
NM_004304.5(ALK):c.3763T>C (p.Cys1255Arg)
|
|
|
NM_004304.5(ALK):c.3764G>A (p.Cys1255Tyr)
|
|
|
NM_004304.5(ALK):c.3769_3770del (p.Leu1257fs)
|
rs1553391515
|
|
NM_004304.5(ALK):c.376G>C (p.Val126Leu)
|
rs753812162
|
|
NM_004304.5(ALK):c.3772A>G (p.Thr1258Ala)
|
rs2148155294
|
|
NM_004304.5(ALK):c.3776G>A (p.Cys1259Tyr)
|
rs1669417026
|
|
NM_004304.5(ALK):c.3776G>C (p.Cys1259Ser)
|
rs1669417026
|
|
NM_004304.5(ALK):c.3778C>G (p.Pro1260Ala)
|
rs766988856
|
|
NM_004304.5(ALK):c.3778C>T (p.Pro1260Ser)
|
|
|
NM_004304.5(ALK):c.3779C>T (p.Pro1260Leu)
|
|
|
NM_004304.5(ALK):c.3781G>A (p.Gly1261Ser)
|
rs759144859
|
|
NM_004304.5(ALK):c.3782G>A (p.Gly1261Asp)
|
rs1669416575
|
|
NM_004304.5(ALK):c.3784C>A (p.Pro1262Thr)
|
rs774360880
|
|
NM_004304.5(ALK):c.3785C>G (p.Pro1262Arg)
|
|
|
NM_004304.5(ALK):c.3787G>A (p.Gly1263Arg)
|
|
|
NM_004304.5(ALK):c.3788G>T (p.Gly1263Val)
|
rs1174034094
|
|
NM_004304.5(ALK):c.3791G>A (p.Arg1264Lys)
|
|
|
NM_004304.5(ALK):c.3791G>T (p.Arg1264Ile)
|
|
|
NM_004304.5(ALK):c.3792A>C (p.Arg1264Ser)
|
rs2148155204
|
|
NM_004304.5(ALK):c.3793G>C (p.Val1265Leu)
|
|
|
NM_004304.5(ALK):c.3794T>C (p.Val1265Ala)
|
rs1669415878
|
|
NM_004304.5(ALK):c.379C>G (p.Leu127Val)
|
|
|
NM_004304.5(ALK):c.3801G>C (p.Lys1267Asn)
|
rs1558614450
|
|
NM_004304.5(ALK):c.3802A>T (p.Ile1268Phe)
|
rs1669415629
|
|
NM_004304.5(ALK):c.3806del (p.Gly1269fs)
|
rs2148155141
|
|
NM_004304.5(ALK):c.3813C>A (p.Phe1271Leu)
|
|
|
NM_004304.5(ALK):c.3817del (p.Met1273fs)
|
rs1669414764
|
|
NM_004304.5(ALK):c.3819G>A (p.Met1273Ile)
|
rs2148155078
|
|
NM_004304.5(ALK):c.3823C>T (p.Arg1275Ter)
|
rs543620241
|
|
NM_004304.5(ALK):c.3829A>G (p.Ile1277Val)
|
rs1573102719
|
|
NM_004304.5(ALK):c.3833A>G (p.Tyr1278Cys)
|
|
|
NM_004304.5(ALK):c.3835A>C (p.Arg1279=)
|
rs1573102711
|
|
NM_004304.5(ALK):c.3836+5G>A
|
rs1669413814
|
|
NM_004304.5(ALK):c.3836+6T>G
|
rs1669413751
|
|
NM_004304.5(ALK):c.3836G>A (p.Arg1279Lys)
|
rs1300517321
|
|
NM_004304.5(ALK):c.3839C>A (p.Ala1280Glu)
|
|
|
NM_004304.5(ALK):c.383A>C (p.Lys128Thr)
|
|
|
NM_004304.5(ALK):c.3854A>T (p.Lys1285Met)
|
|
|
NM_004304.5(ALK):c.3855G>T (p.Lys1285Asn)
|
|
|
NM_004304.5(ALK):c.3859G>A (p.Gly1287Ser)
|
rs1669335550
|
|
NM_004304.5(ALK):c.385G>A (p.Gly129Ser)
|
rs1553380334
|
|
NM_004304.5(ALK):c.3860G>A (p.Gly1287Asp)
|
rs2148152174
|
|
NM_004304.5(ALK):c.3862T>G (p.Cys1288Gly)
|
|
|
NM_004304.5(ALK):c.3863G>A (p.Cys1288Tyr)
|
|
|
NM_004304.5(ALK):c.3866C>T (p.Ala1289Val)
|
rs1173246434
|
|
NM_004304.5(ALK):c.3868A>G (p.Met1290Val)
|
|
|
NM_004304.5(ALK):c.3869T>C (p.Met1290Thr)
|
|
|
NM_004304.5(ALK):c.386G>A (p.Gly129Asp)
|
rs760041708
|
|
NM_004304.5(ALK):c.386G>C (p.Gly129Ala)
|
rs760041708
|
|
NM_004304.5(ALK):c.3870G>A (p.Met1290Ile)
|
rs2148152138
|
|
NM_004304.5(ALK):c.3875C>T (p.Pro1292Leu)
|
rs2148152117
|
|
NM_004304.5(ALK):c.3881A>C (p.Lys1294Thr)
|
|
|
NM_004304.5(ALK):c.3887T>C (p.Met1296Thr)
|
|
|
NM_004304.5(ALK):c.3888G>A (p.Met1296Ile)
|
rs1553390763
|
|
NM_004304.5(ALK):c.3890C>T (p.Pro1297Leu)
|
rs1669334369
|
|
NM_004304.5(ALK):c.3897G>C (p.Glu1299Asp)
|
|
|
NM_004304.5(ALK):c.389G>T (p.Gly130Val)
|
rs1553380330
|
|
NM_004304.5(ALK):c.3901T>C (p.Phe1301Leu)
|
rs2148152031
|
|
NM_004304.5(ALK):c.3902del (p.Phe1301fs)
|
rs1669334076
|
|
NM_004304.5(ALK):c.3911G>A (p.Gly1304Glu)
|
|
|
NM_004304.5(ALK):c.3914T>C (p.Ile1305Thr)
|
|
|
NM_004304.5(ALK):c.3916T>C (p.Phe1306Leu)
|
|
|
NM_004304.5(ALK):c.3919A>G (p.Thr1307Ala)
|
rs1669333746
|
|
NM_004304.5(ALK):c.3923C>T (p.Ser1308Phe)
|
|
|
NM_004304.5(ALK):c.3925A>G (p.Lys1309Glu)
|
|
|
NM_004304.5(ALK):c.3926A>T (p.Lys1309Ile)
|
|
|
NM_004304.5(ALK):c.3928A>G (p.Thr1310Ala)
|
rs1553390742
|
|
NM_004304.5(ALK):c.3929C>T (p.Thr1310Ile)
|
rs1060500226
|
|
NM_004304.5(ALK):c.392C>G (p.Ser131Cys)
|
rs1667955289
|
|
NM_004304.5(ALK):c.3937T>C (p.Trp1313Arg)
|
rs1669333264
|
|
NM_004304.5(ALK):c.3938+1G>A
|
rs1553390736
|
|
NM_004304.5(ALK):c.3938+1G>C
|
rs1553390736
|
|
NM_004304.5(ALK):c.3938+2T>C
|
|
|
NM_004304.5(ALK):c.3938+3A>G
|
rs1669333067
|
|
NM_004304.5(ALK):c.3938+5G>A
|
|
|
NM_004304.5(ALK):c.3938+5dup
|
rs1573098880
|
|
NM_004304.5(ALK):c.3938+6T>A
|
|
|
NM_004304.5(ALK):c.3938G>A (p.Trp1313Ter)
|
rs1573098889
|
|
NM_004304.5(ALK):c.3939-10C>G
|
rs2148143702
|
|
NM_004304.5(ALK):c.3939G>T (p.Trp1313Cys)
|
rs1060500218
|
|
NM_004304.5(ALK):c.3944T>C (p.Phe1315Ser)
|
|
|
NM_004304.5(ALK):c.3946G>T (p.Gly1316Ter)
|
|
|
NM_004304.5(ALK):c.3947G>A (p.Gly1316Glu)
|
rs1285677926
|
|
NM_004304.5(ALK):c.3949G>A (p.Val1317Met)
|
rs770242459
|
|
NM_004304.5(ALK):c.394G>A (p.Val132Met)
|
rs1262491330
|
|
NM_004304.5(ALK):c.394G>T (p.Val132Leu)
|
rs1262491330
|
|
NM_004304.5(ALK):c.3953T>C (p.Leu1318Pro)
|
|
|
NM_004304.5(ALK):c.3959G>A (p.Trp1320Ter)
|
rs2148143597
|
|
NM_004304.5(ALK):c.395_408del (p.Val132fs)
|
|
|
NM_004304.5(ALK):c.3965T>A (p.Ile1322Asn)
|
|
|
NM_004304.5(ALK):c.3966C>G (p.Ile1322Met)
|
rs2148143567
|
|
NM_004304.5(ALK):c.3971C>G (p.Ser1324Cys)
|
rs758127441
|
|
NM_004304.5(ALK):c.397C>A (p.Arg133Ser)
|
|
|
NM_004304.5(ALK):c.3981T>G (p.Tyr1327Ter)
|
rs1669057406
|
|
NM_004304.5(ALK):c.3983T>C (p.Met1328Thr)
|
rs2148143507
|
|
NM_004304.5(ALK):c.3984G>A (p.Met1328Ile)
|
rs540427775
|
|
NM_004304.5(ALK):c.3985C>T (p.Pro1329Ser)
|
|
|
NM_004304.5(ALK):c.3986C>T (p.Pro1329Leu)
|
rs2148143494
|
|
NM_004304.5(ALK):c.3988T>C (p.Tyr1330His)
|
rs1669057104
|
|
NM_004304.5(ALK):c.398G>A (p.Arg133His)
|
rs768229646
|
|
NM_004304.5(ALK):c.398G>T (p.Arg133Leu)
|
rs768229646
|
|
NM_004304.5(ALK):c.398_399delinsAA (p.Arg133Gln)
|
|
|
NM_004304.5(ALK):c.3990C>A (p.Tyr1330Ter)
|
rs2148143481
|
|
NM_004304.5(ALK):c.3992C>T (p.Pro1331Leu)
|
rs370364694
|
|
NM_004304.5(ALK):c.4000A>T (p.Ser1334Cys)
|
rs1307066116
|
|
NM_004304.5(ALK):c.4001G>A (p.Ser1334Asn)
|
rs1209406542
|
|
NM_004304.5(ALK):c.4001G>C (p.Ser1334Thr)
|
|
|
NM_004304.5(ALK):c.4002C>G (p.Ser1334Arg)
|
rs1669056558
|
|
NM_004304.5(ALK):c.4007A>G (p.Gln1336Arg)
|
rs1669056352
|
|
NM_004304.5(ALK):c.400A>C (p.Lys134Gln)
|
|
|
NM_004304.5(ALK):c.4012G>A (p.Val1338Ile)
|
|
|
NM_004304.5(ALK):c.4012G>T (p.Val1338Phe)
|
rs1573084680
|
|
NM_004304.5(ALK):c.4019A>G (p.Glu1340Gly)
|
rs1469977891
|
|
NM_004304.5(ALK):c.4025T>A (p.Val1342Asp)
|
|
|
NM_004304.5(ALK):c.4033G>A (p.Gly1345Arg)
|
rs2148143330
|
|
NM_004304.5(ALK):c.4038C>T (p.Gly1346=)
|
rs1669055383
|
|
NM_004304.5(ALK):c.4039C>T (p.Arg1347Trp)
|
rs865887581
|
|
NM_004304.5(ALK):c.4041del (p.Met1348fs)
|
|
|
NM_004304.5(ALK):c.4045G>A (p.Asp1349Asn)
|
rs368744524
|
|
NM_004304.5(ALK):c.4051C>G (p.Pro1351Ala)
|
rs1669054438
|
|
NM_004304.5(ALK):c.4052C>A (p.Pro1351His)
|
rs1669054292
|
|
NM_004304.5(ALK):c.4056G>T (p.Lys1352Asn)
|
|
|
NM_004304.5(ALK):c.4058A>G (p.Asn1353Ser)
|
rs2148143237
|
|
NM_004304.5(ALK):c.4059C>G (p.Asn1353Lys)
|
|
|
NM_004304.5(ALK):c.4060T>C (p.Cys1354Arg)
|
rs1669054082
|
|
NM_004304.5(ALK):c.4064C>T (p.Pro1355Leu)
|
rs1573084525
|
|
NM_004304.5(ALK):c.4069C>G (p.Pro1357Ala)
|
rs1573084515
|
|
NM_004304.5(ALK):c.406C>T (p.Arg136Trp)
|
rs1386626390
|
|
NM_004304.5(ALK):c.4070C>A (p.Pro1357His)
|
|
|
NM_004304.5(ALK):c.4073+1G>A
|
|
|
NM_004304.5(ALK):c.4073+5G>A
|
rs1325951899
|
|
NM_004304.5(ALK):c.4073T>C (p.Val1358Ala)
|
|
|
NM_004304.5(ALK):c.4074-13CTT[2]
|
rs2148141994
|
|
NM_004304.5(ALK):c.4074-3T>C
|
rs770544095
|
|
NM_004304.5(ALK):c.4077C>G (p.Tyr1359Ter)
|
|
|
NM_004304.5(ALK):c.4079G>T (p.Arg1360Leu)
|
rs1215186876
|
|
NM_004304.5(ALK):c.4082T>C (p.Ile1361Thr)
|
rs2148141969
|
|
NM_004304.5(ALK):c.4083A>G (p.Ile1361Met)
|
|
|
NM_004304.5(ALK):c.4088C>T (p.Thr1363Ile)
|
|
|
NM_004304.5(ALK):c.408del (p.Arg137fs)
|
rs2148443342
|
|
NM_004304.5(ALK):c.4092G>C (p.Gln1364His)
|
|
|
NM_004304.5(ALK):c.4098G>T (p.Trp1366Cys)
|
|
|
NM_004304.5(ALK):c.4099C>A (p.Gln1367Lys)
|
rs1669035172
|
|
NM_004304.5(ALK):c.409C>G (p.Arg137Gly)
|
rs757382067
|
|
NM_004304.5(ALK):c.409C>T (p.Arg137Cys)
|
rs757382067
|
|
NM_004304.5(ALK):c.40C>T (p.Leu14Phe)
|
|
|
NM_004304.5(ALK):c.4100_4106del (p.Gln1367fs)
|
rs1370805516
|
|
NM_004304.5(ALK):c.4102C>T (p.His1368Tyr)
|
|
|
NM_004304.5(ALK):c.4106A>G (p.Gln1369Arg)
|
rs2148141895
|
|
NM_004304.5(ALK):c.4108C>T (p.Pro1370Ser)
|
|
|
NM_004304.5(ALK):c.4109C>G (p.Pro1370Arg)
|
rs748027591
|
|
NM_004304.5(ALK):c.4109C>T (p.Pro1370Leu)
|
rs748027591
|
|
NM_004304.5(ALK):c.410G>A (p.Arg137His)
|
rs2148443334
|
|
NM_004304.5(ALK):c.4111G>A (p.Glu1371Lys)
|
|
|
NM_004304.5(ALK):c.4113A>C (p.Glu1371Asp)
|
rs1287738986
|
|
NM_004304.5(ALK):c.4114G>T (p.Asp1372Tyr)
|
rs535864522
|
|
NM_004304.5(ALK):c.4117A>G (p.Arg1373Gly)
|
rs1553387992
|
|
NM_004304.5(ALK):c.4118G>A (p.Arg1373Lys)
|
rs1558606110
|
|
NM_004304.5(ALK):c.4118G>T (p.Arg1373Met)
|
rs1558606110
|
|
NM_004304.5(ALK):c.4119G>T (p.Arg1373Ser)
|
|
|
NM_004304.5(ALK):c.4127T>A (p.Phe1376Tyr)
|
rs17694720
|
|
NM_004304.5(ALK):c.4129G>A (p.Ala1377Thr)
|
rs2148141798
|
|
NM_004304.5(ALK):c.412G>A (p.Ala138Thr)
|
rs2148443328
|
|
NM_004304.5(ALK):c.4132A>G (p.Ile1378Val)
|
rs1669033638
|
|
NM_004304.5(ALK):c.413C>G (p.Ala138Gly)
|
|
|
NM_004304.5(ALK):c.4140G>C (p.Leu1380Phe)
|
|
|
NM_004304.5(ALK):c.4146G>C (p.Arg1382Ser)
|
|
|
NM_004304.5(ALK):c.4151A>G (p.Glu1384Gly)
|
rs1669032859
|
|
NM_004304.5(ALK):c.4151A>T (p.Glu1384Val)
|
rs1669032859
|
|
NM_004304.5(ALK):c.4157G>C (p.Cys1386Ser)
|
|
|
NM_004304.5(ALK):c.4160C>G (p.Thr1387Ser)
|
|
|
NM_004304.5(ALK):c.4160C>T (p.Thr1387Ile)
|
|
|
NM_004304.5(ALK):c.4164+4A>T
|
|
|
NM_004304.5(ALK):c.4164+5A>C
|
|
|
NM_004304.5(ALK):c.4164G>A (p.Gln1388=)
|
rs200902932
|
|
NM_004304.5(ALK):c.4164G>C (p.Gln1388His)
|
rs200902932
|
|
NM_004304.5(ALK):c.4165-1G>A
|
|
|
NM_004304.5(ALK):c.4165-2A>G
|
rs2148139200
|
|
NM_004304.5(ALK):c.4165-5G>A
|
rs1668958083
|
|
NM_004304.5(ALK):c.4165G>C (p.Asp1389His)
|
rs2148139191
|
|
NM_004304.5(ALK):c.4165G>T (p.Asp1389Tyr)
|
rs2148139191
|
|
NM_004304.5(ALK):c.4168C>G (p.Pro1390Ala)
|
rs1668958001
|
|
NM_004304.5(ALK):c.4169C>T (p.Pro1390Leu)
|
|
|
NM_004304.5(ALK):c.4172A>C (p.Asp1391Ala)
|
rs2148139166
|
|
NM_004304.5(ALK):c.4174G>A (p.Val1392Ile)
|
rs1668957592
|
|
NM_004304.5(ALK):c.4180A>C (p.Asn1394His)
|
|
|
NM_004304.5(ALK):c.4181A>T (p.Asn1394Ile)
|
rs1668957374
|
|
NM_004304.5(ALK):c.4184C>T (p.Thr1395Ile)
|
rs1060500220
|
|
NM_004304.5(ALK):c.4186G>T (p.Ala1396Ser)
|
|
|
NM_004304.5(ALK):c.4190T>C (p.Leu1397Ser)
|
rs878854656
|
|
NM_004304.5(ALK):c.4193C>G (p.Pro1398Arg)
|
|
|
NM_004304.5(ALK):c.4197A>G (p.Ile1399Met)
|
|
|
NM_004304.5(ALK):c.4198G>C (p.Glu1400Gln)
|
rs1573079264
|
|
NM_004304.5(ALK):c.4199A>C (p.Glu1400Ala)
|
rs978004615
|
|
NM_004304.5(ALK):c.419A>G (p.Gln140Arg)
|
rs2148443304
|
|
NM_004304.5(ALK):c.4200A>T (p.Glu1400Asp)
|
rs143647372
|
|
NM_004304.5(ALK):c.4201T>G (p.Tyr1401Asp)
|
rs549395816
|
|
NM_004304.5(ALK):c.4210C>T (p.Leu1404Phe)
|
rs757615099
|
|
NM_004304.5(ALK):c.4216G>A (p.Glu1406Lys)
|
rs1668955167
|
|
NM_004304.5(ALK):c.4216GAAGAG[1] (p.Glu1408_Glu1409del)
|
rs1558604159
|
|
NM_004304.5(ALK):c.4217A>G (p.Glu1406Gly)
|
|
|
NM_004304.5(ALK):c.4219G>A (p.Glu1407Lys)
|
rs1334825922
|
|
NM_004304.5(ALK):c.4221G>C (p.Glu1407Asp)
|
rs552187705
|
|
NM_004304.5(ALK):c.4223A>G (p.Glu1408Gly)
|
rs2148139005
|
|
NM_004304.5(ALK):c.4224A>C (p.Glu1408Asp)
|
|
|
NM_004304.5(ALK):c.4226A>T (p.Glu1409Val)
|
rs1286165795
|
|
NM_004304.5(ALK):c.4226_4231del (p.Glu1409_Lys1410del)
|
rs1460984349
|
|
NM_004304.5(ALK):c.4227G>T (p.Glu1409Asp)
|
rs139086136
|
|
NM_004304.5(ALK):c.4232T>C (p.Val1411Ala)
|
rs878854657
|
|
NM_004304.5(ALK):c.4232T>G (p.Val1411Gly)
|
rs878854657
|
|
NM_004304.5(ALK):c.4235C>G (p.Pro1412Arg)
|
|
|
NM_004304.5(ALK):c.4238dup (p.Arg1414fs)
|
rs1553387176
|
|
NM_004304.5(ALK):c.4241G>T (p.Arg1414Met)
|
rs77762612
|
|
NM_004304.5(ALK):c.4247A>C (p.Lys1416Thr)
|
rs1558604110
|
|
NM_004304.5(ALK):c.4247A>G (p.Lys1416Arg)
|
rs1558604110
|
|
NM_004304.5(ALK):c.4247A>T (p.Lys1416Met)
|
rs1558604110
|
|
NM_004304.5(ALK):c.4248G>C (p.Lys1416Asn)
|
rs55782189
|
|
NM_004304.5(ALK):c.4249G>A (p.Asp1417Asn)
|
|
|
NM_004304.5(ALK):c.4249G>C (p.Asp1417His)
|
rs1251673674
|
|
NM_004304.5(ALK):c.424G>A (p.Val142Met)
|
|
|
NM_004304.5(ALK):c.4253C>G (p.Pro1418Arg)
|
rs1668952882
|
|
NM_004304.5(ALK):c.4255G>C (p.Glu1419Gln)
|
rs56181542
|
|
NM_004304.5(ALK):c.4257G>C (p.Glu1419Asp)
|
rs888028409
|
|
NM_004304.5(ALK):c.4258G>A (p.Gly1420Arg)
|
|
|
NM_004304.5(ALK):c.4259G>A (p.Gly1420Glu)
|
rs200470125
|
|
NM_004304.5(ALK):c.425_430dup (p.Val142_Leu143dup)
|
rs2148443279
|
|
NM_004304.5(ALK):c.4261del (p.Val1421fs)
|
|
|
NM_004304.5(ALK):c.4262T>C (p.Val1421Ala)
|
|
|
NM_004304.5(ALK):c.4262T>G (p.Val1421Gly)
|
rs1472924406
|
|
NM_004304.5(ALK):c.4264C>G (p.Pro1422Ala)
|
rs1558604075
|
|
NM_004304.5(ALK):c.4268C>T (p.Pro1423Leu)
|
|
|
NM_004304.5(ALK):c.4270C>G (p.Leu1424Val)
|
rs1573079038
|
|
NM_004304.5(ALK):c.4272C>T (p.Leu1424=)
|
|
|
NM_004304.5(ALK):c.4276G>A (p.Val1426Ile)
|
rs1558604058
|
|
NM_004304.5(ALK):c.4276G>T (p.Val1426Phe)
|
rs1558604058
|
|
NM_004304.5(ALK):c.4277T>A (p.Val1426Asp)
|
rs2148138831
|
|
NM_004304.5(ALK):c.4278C>G (p.Val1426=)
|
|
|
NM_004304.5(ALK):c.4279T>C (p.Ser1427Pro)
|
|
|
NM_004304.5(ALK):c.4279T>G (p.Ser1427Ala)
|
|
|
NM_004304.5(ALK):c.427C>A (p.Leu143Met)
|
|
|
NM_004304.5(ALK):c.427dup (p.Leu143fs)
|
|
|
NM_004304.5(ALK):c.4285C>A (p.Gln1429Lys)
|
|
|
NM_004304.5(ALK):c.4287G>A (p.Gln1429=)
|
rs1573079004
|
|
NM_004304.5(ALK):c.4288G>T (p.Ala1430Ser)
|
|
|
NM_004304.5(ALK):c.4292A>C (p.Lys1431Thr)
|
|
|
NM_004304.5(ALK):c.4293A>C (p.Lys1431Asn)
|
|
|
NM_004304.5(ALK):c.4294C>G (p.Arg1432Gly)
|
rs1668950917
|
|
NM_004304.5(ALK):c.4294C>T (p.Arg1432Trp)
|
rs1668950917
|
|
NM_004304.5(ALK):c.4295G>A (p.Arg1432Gln)
|
rs1374838786
|
|
NM_004304.5(ALK):c.4295G>C (p.Arg1432Pro)
|
rs1374838786
|
|
NM_004304.5(ALK):c.4297G>C (p.Glu1433Gln)
|
rs1668950485
|
|
NM_004304.5(ALK):c.4297del (p.Glu1433fs)
|
rs770888701
|
|
NM_004304.5(ALK):c.4298A>G (p.Glu1433Gly)
|
rs1668950412
|
|
NM_004304.5(ALK):c.4301A>G (p.Glu1434Gly)
|
|
|
NM_004304.5(ALK):c.4303G>C (p.Glu1435Gln)
|
rs769694344
|
|
NM_004304.5(ALK):c.4306C>A (p.Arg1436Ser)
|
rs201129468
|
|
NM_004304.5(ALK):c.4306C>T (p.Arg1436Cys)
|
rs201129468
|
|
NM_004304.5(ALK):c.4309A>T (p.Ser1437Cys)
|
|
|
NM_004304.5(ALK):c.4311C>A (p.Ser1437Arg)
|
rs1173440684
|
|
NM_004304.5(ALK):c.4312C>A (p.Pro1438Thr)
|
rs1558604000
|
|
NM_004304.5(ALK):c.4312C>T (p.Pro1438Ser)
|
rs1558604000
|
|
NM_004304.5(ALK):c.4318G>A (p.Ala1440Thr)
|
rs1307483937
|
|
NM_004304.5(ALK):c.4318G>T (p.Ala1440Ser)
|
rs1307483937
|
|
NM_004304.5(ALK):c.4319C>T (p.Ala1440Val)
|
rs2148138722
|
|
NM_004304.5(ALK):c.4322C>T (p.Pro1441Leu)
|
rs1668949114
|
|
NM_004304.5(ALK):c.4323ACC[1] (p.Pro1443del)
|
rs2148138704
|
|
NM_004304.5(ALK):c.4327C>T (p.Pro1443Ser)
|
|
|
NM_004304.5(ALK):c.4331T>C (p.Leu1444Pro)
|
|
|
NM_004304.5(ALK):c.4331_4343del (p.Leu1444fs)
|
|
|
NM_004304.5(ALK):c.4337C>A (p.Thr1446Asn)
|
|
|
NM_004304.5(ALK):c.4337C>T (p.Thr1446Ile)
|
rs1668948533
|
|
NM_004304.5(ALK):c.4339A>G (p.Thr1447Ala)
|
|
|
NM_004304.5(ALK):c.433C>G (p.Leu145Val)
|
|
|
NM_004304.5(ALK):c.4341dup (p.Ser1448fs)
|
rs2148138649
|
|
NM_004304.5(ALK):c.4342T>C (p.Ser1448Pro)
|
|
|
NM_004304.5(ALK):c.4343C>T (p.Ser1448Phe)
|
rs1553387094
|
|
NM_004304.5(ALK):c.4354G>A (p.Ala1452Thr)
|
|
|
NM_004304.5(ALK):c.4355C>A (p.Ala1452Asp)
|
|
|
NM_004304.5(ALK):c.4357G>T (p.Ala1453Ser)
|
rs752317227
|
|
NM_004304.5(ALK):c.4358C>G (p.Ala1453Gly)
|
|
|
NM_004304.5(ALK):c.4365A>T (p.Lys1455Asn)
|
|
|
NM_004304.5(ALK):c.4367C>T (p.Pro1456Leu)
|
rs944804641
|
|
NM_004304.5(ALK):c.4369A>C (p.Thr1457Pro)
|
|
|
NM_004304.5(ALK):c.436G>A (p.Gly146Ser)
|
rs2148443264
|
|
NM_004304.5(ALK):c.4373C>A (p.Ala1458Asp)
|
rs774448761
|
|
NM_004304.5(ALK):c.4373C>T (p.Ala1458Val)
|
rs774448761
|
|
NM_004304.5(ALK):c.4376C>T (p.Ala1459Val)
|
|
|
NM_004304.5(ALK):c.4378G>A (p.Glu1460Lys)
|
rs2148138533
|
|
NM_004304.5(ALK):c.4380G>C (p.Glu1460Asp)
|
rs1558603894
|
|
NM_004304.5(ALK):c.4380_4381delinsAG (p.Ile1461Val)
|
rs1668946149
|
|
NM_004304.5(ALK):c.4381A>T (p.Ile1461Phe)
|
|
|
NM_004304.5(ALK):c.4387G>A (p.Val1463Ile)
|
|
|
NM_004304.5(ALK):c.4387G>T (p.Val1463Phe)
|
rs2148138487
|
|
NM_004304.5(ALK):c.438C>T (p.Gly146=)
|
|
|
NM_004304.5(ALK):c.4390C>T (p.Arg1464Ter)
|
|
|
NM_004304.5(ALK):c.4391G>A (p.Arg1464Gln)
|
rs1060500213
|
|
NM_004304.5(ALK):c.4393G>C (p.Val1465Leu)
|
rs769128867
|
|
NM_004304.5(ALK):c.4396C>T (p.Pro1466Ser)
|
rs1668945318
|
|
NM_004304.5(ALK):c.4397C>T (p.Pro1466Leu)
|
rs1368483124
|
|
NM_004304.5(ALK):c.4399A>G (p.Arg1467Gly)
|
|
|
NM_004304.5(ALK):c.43T>A (p.Ser15Thr)
|
|
|
NM_004304.5(ALK):c.4402G>A (p.Gly1468Arg)
|
|
|
NM_004304.5(ALK):c.4406C>G (p.Pro1469Arg)
|
rs758625575
|
|
NM_004304.5(ALK):c.440AGG[3] (p.Glu148dup)
|
rs1667953492
|
|
NM_004304.5(ALK):c.4420G>C (p.Gly1474Arg)
|
rs2148138381
|
|
NM_004304.5(ALK):c.4421G>C (p.Gly1474Ala)
|
rs1293939080
|
|
NM_004304.5(ALK):c.4425C>A (p.His1475Gln)
|
rs139039449
|
|
NM_004304.5(ALK):c.4426G>A (p.Val1476Met)
|
rs1353772576
|
|
NM_004304.5(ALK):c.4430A>G (p.Asn1477Ser)
|
rs1668942326
|
|
NM_004304.5(ALK):c.4434G>A (p.Met1478Ile)
|
|
|
NM_004304.5(ALK):c.4436C>T (p.Ala1479Val)
|
rs1558603789
|
|
NM_004304.5(ALK):c.4438T>C (p.Phe1480Leu)
|
rs1410822315
|
|
NM_004304.5(ALK):c.443A>C (p.Glu148Ala)
|
rs1331266292
|
|
NM_004304.5(ALK):c.4441T>C (p.Ser1481Pro)
|
rs2148138322
|
|
NM_004304.5(ALK):c.4441T>G (p.Ser1481Ala)
|
|
|
NM_004304.5(ALK):c.4442C>G (p.Ser1481Cys)
|
rs1356575388
|
|
NM_004304.5(ALK):c.4442C>T (p.Ser1481Phe)
|
rs1356575388
|
|
NM_004304.5(ALK):c.4445A>G (p.Gln1482Arg)
|
rs751473124
|
|
NM_004304.5(ALK):c.4446G>C (p.Gln1482His)
|
|
|
NM_004304.5(ALK):c.4450A>G (p.Asn1484Asp)
|
|
|
NM_004304.5(ALK):c.4451A>C (p.Asn1484Thr)
|
rs752320442
|
|
NM_004304.5(ALK):c.4453C>A (p.Pro1485Thr)
|
|
|
NM_004304.5(ALK):c.445G>A (p.Ala149Thr)
|
|
|
NM_004304.5(ALK):c.4462G>C (p.Glu1488Gln)
|
rs776861631
|
|
NM_004304.5(ALK):c.4466T>G (p.Leu1489Trp)
|
rs747098710
|
|
NM_004304.5(ALK):c.4468C>T (p.His1490Tyr)
|
rs2148138215
|
|
NM_004304.5(ALK):c.4469A>G (p.His1490Arg)
|
|
|
NM_004304.5(ALK):c.446C>A (p.Ala149Glu)
|
|
|
NM_004304.5(ALK):c.4470C>G (p.His1490Gln)
|
rs1573078434
|
|
NM_004304.5(ALK):c.4471A>C (p.Lys1491Gln)
|
|
|
NM_004304.5(ALK):c.4471_4472delinsCG (p.Lys1491Arg)
|
rs1668940521
|
|
NM_004304.5(ALK):c.4474G>C (p.Val1492Leu)
|
rs567438064
|
|
NM_004304.5(ALK):c.4475T>C (p.Val1492Ala)
|
|
|
NM_004304.5(ALK):c.4477C>T (p.His1493Tyr)
|
|
|
NM_004304.5(ALK):c.4478A>G (p.His1493Arg)
|
|
|
NM_004304.5(ALK):c.4478A>T (p.His1493Leu)
|
rs747759910
|
|
NM_004304.5(ALK):c.4479C>A (p.His1493Gln)
|
|
|
NM_004304.5(ALK):c.4483T>A (p.Ser1495Thr)
|
rs1441987948
|
|
NM_004304.5(ALK):c.4483T>C (p.Ser1495Pro)
|
|
|
NM_004304.5(ALK):c.4486A>G (p.Arg1496Gly)
|
rs1378185030
|
|
NM_004304.5(ALK):c.4487G>A (p.Arg1496Lys)
|
rs2148138148
|
|
NM_004304.5(ALK):c.4489A>C (p.Asn1497His)
|
|
|
NM_004304.5(ALK):c.448A>C (p.Ile150Leu)
|
rs1203267790
|
|
NM_004304.5(ALK):c.4490A>G (p.Asn1497Ser)
|
|
|
NM_004304.5(ALK):c.4493A>T (p.Lys1498Met)
|
|
|
NM_004304.5(ALK):c.4499C>T (p.Thr1500Ile)
|
rs751170666
|
|
NM_004304.5(ALK):c.44C>T (p.Ser15Phe)
|
rs770134645
|
|
NM_004304.5(ALK):c.4512C>A (p.Asn1504Lys)
|
rs527638667
|
|
NM_004304.5(ALK):c.4516A>G (p.Thr1506Ala)
|
rs1553386991
|
|
NM_004304.5(ALK):c.4516A>T (p.Thr1506Ser)
|
rs1553386991
|
|
NM_004304.5(ALK):c.4517C>T (p.Thr1506Met)
|
|
|
NM_004304.5(ALK):c.4529G>A (p.Trp1510Ter)
|
rs928177802
|
|
NM_004304.5(ALK):c.4530G>A (p.Trp1510Ter)
|
rs772430445
|
|
NM_004304.5(ALK):c.4531T>A (p.Phe1511Ile)
|
rs1573078272
|
|
NM_004304.5(ALK):c.4535C>G (p.Thr1512Arg)
|
rs75681494
|
|
NM_004304.5(ALK):c.4535C>T (p.Thr1512Ile)
|
|
|
NM_004304.5(ALK):c.4537G>C (p.Glu1513Gln)
|
rs374733353
|
|
NM_004304.5(ALK):c.4538A>G (p.Glu1513Gly)
|
|
|
NM_004304.5(ALK):c.4540A>G (p.Lys1514Glu)
|
|
|
NM_004304.5(ALK):c.4542A>C (p.Lys1514Asn)
|
rs2148137975
|
|
NM_004304.5(ALK):c.4543C>A (p.Pro1515Thr)
|
|
|
NM_004304.5(ALK):c.4546A>C (p.Thr1516Pro)
|
|
|
NM_004304.5(ALK):c.4547C>T (p.Thr1516Ile)
|
rs1668936237
|
|
NM_004304.5(ALK):c.454G>C (p.Glu152Gln)
|
rs1060500233
|
|
NM_004304.5(ALK):c.4553A>G (p.Lys1518Arg)
|
|
|
NM_004304.5(ALK):c.4553del (p.Lys1518fs)
|
rs2148137946
|
|
NM_004304.5(ALK):c.4554_4555delinsTT (p.Lys1518_Asn1519delinsAsnTyr)
|
|
|
NM_004304.5(ALK):c.4554del (p.Asn1519fs)
|
rs2148137938
|
|
NM_004304.5(ALK):c.4558A>C (p.Asn1520His)
|
|
|
NM_004304.5(ALK):c.455A>G (p.Glu152Gly)
|
rs1553380301
|
|
NM_004304.5(ALK):c.4560T>A (p.Asn1520Lys)
|
|
|
NM_004304.5(ALK):c.4560_4577dup (p.Lys1525_Glu1526insAspProIleAlaLysLys)
|
rs780241185
|
|
NM_004304.5(ALK):c.4561C>A (p.Pro1521Thr)
|
|
|
NM_004304.5(ALK):c.4565del (p.Ile1522fs)
|
rs1668935806
|
|
NM_004304.5(ALK):c.4566A>G (p.Ile1522Met)
|
rs902642850
|
|
NM_004304.5(ALK):c.4567G>C (p.Ala1523Pro)
|
rs1553386968
|
|
NM_004304.5(ALK):c.4568C>T (p.Ala1523Val)
|
|
|
NM_004304.5(ALK):c.456G>C (p.Glu152Asp)
|
rs1553380299
|
|
NM_004304.5(ALK):c.4570AAG[1] (p.Lys1525del)
|
rs755556501
|
|
NM_004304.5(ALK):c.4571A>G (p.Lys1524Arg)
|
rs1668935395
|
|
NM_004304.5(ALK):c.4576G>A (p.Glu1526Lys)
|
rs1558603565
|
|
NM_004304.5(ALK):c.4578G>C (p.Glu1526Asp)
|
|
|
NM_004304.5(ALK):c.4579C>T (p.Pro1527Ser)
|
rs1668934497
|
|
NM_004304.5(ALK):c.457G>A (p.Gly153Ser)
|
rs1485515006
|
|
NM_004304.5(ALK):c.457G>T (p.Gly153Cys)
|
|
|
NM_004304.5(ALK):c.4583A>G (p.His1528Arg)
|
|
|
NM_004304.5(ALK):c.4584C>A (p.His1528Gln)
|
rs746470148
|
|
NM_004304.5(ALK):c.4584C>G (p.His1528Gln)
|
rs746470148
|
|
NM_004304.5(ALK):c.4585G>C (p.Asp1529His)
|
|
|
NM_004304.5(ALK):c.4586_4587delinsTG (p.Asp1529Val)
|
rs1668934153
|
|
NM_004304.5(ALK):c.4589G>C (p.Arg1530Thr)
|
|
|
NM_004304.5(ALK):c.4589G>T (p.Arg1530Met)
|
rs141242925
|
|
NM_004304.5(ALK):c.4590G>T (p.Arg1530Ser)
|
rs1668933679
|
|
NM_004304.5(ALK):c.4592G>A (p.Gly1531Asp)
|
rs1668933433
|
|
NM_004304.5(ALK):c.4592G>T (p.Gly1531Val)
|
rs1668933433
|
|
NM_004304.5(ALK):c.4594A>T (p.Asn1532Tyr)
|
rs563126725
|
|
NM_004304.5(ALK):c.4598T>C (p.Leu1533Pro)
|
|
|
NM_004304.5(ALK):c.4598T>G (p.Leu1533Arg)
|
rs764298799
|
|
NM_004304.5(ALK):c.4600G>A (p.Gly1534Arg)
|
rs1453682751
|
|
NM_004304.5(ALK):c.4600G>C (p.Gly1534Arg)
|
rs1453682751
|
|
NM_004304.5(ALK):c.4601G>C (p.Gly1534Ala)
|
rs139185626
|
|
NM_004304.5(ALK):c.4605_4606insAAGGAGCCACACGAGAGGGGTAACCTGGGGCTG (p.Leu1535_Glu1536insLysGluProHisGluArgGlyAsnLeuGlyLeu)
|
rs2148137777
|
|
NM_004304.5(ALK):c.4606G>A (p.Glu1536Lys)
|
rs752701859
|
|
NM_004304.5(ALK):c.4606G>C (p.Glu1536Gln)
|
rs752701859
|
|
NM_004304.5(ALK):c.4607A>G (p.Glu1536Gly)
|
|
|
NM_004304.5(ALK):c.4608G>T (p.Glu1536Asp)
|
rs147241767
|
|
NM_004304.5(ALK):c.4609G>C (p.Gly1537Arg)
|
rs958335893
|
|
NM_004304.5(ALK):c.4610G>A (p.Gly1537Glu)
|
rs1046265972
|
|
NM_004304.5(ALK):c.4610G>C (p.Gly1537Ala)
|
rs1046265972
|
|
NM_004304.5(ALK):c.4611A>T (p.Gly1537=)
|
rs2148137752
|
|
NM_004304.5(ALK):c.4613G>T (p.Ser1538Ile)
|
rs1553386937
|
|
NM_004304.5(ALK):c.4615T>C (p.Cys1539Arg)
|
|
|
NM_004304.5(ALK):c.4622T>A (p.Val1541Asp)
|
|
|
NM_004304.5(ALK):c.4625C>G (p.Pro1542Arg)
|
rs878854659
|
|
NM_004304.5(ALK):c.4625C>T (p.Pro1542Leu)
|
rs878854659
|
|
NM_004304.5(ALK):c.4625del (p.Pro1542fs)
|
rs1174832921
|
|
NM_004304.5(ALK):c.4627C>A (p.Pro1543Thr)
|
rs771622065
|
|
NM_004304.5(ALK):c.4630A>C (p.Asn1544His)
|
rs1668930964
|
|
NM_004304.5(ALK):c.4633G>T (p.Val1545Phe)
|
rs1296992304
|
|
NM_004304.5(ALK):c.4634T>C (p.Val1545Ala)
|
rs1553386918
|
|
NM_004304.5(ALK):c.4636G>A (p.Ala1546Thr)
|
rs1668930591
|
|
NM_004304.5(ALK):c.463G>A (p.Val155Ile)
|
rs751920643
|
|
NM_004304.5(ALK):c.463G>C (p.Val155Leu)
|
rs751920643
|
|
NM_004304.5(ALK):c.4642G>A (p.Gly1548Arg)
|
rs1215807713
|
|
NM_004304.5(ALK):c.4643G>A (p.Gly1548Glu)
|
rs78868998
|
|
NM_004304.5(ALK):c.4645A>G (p.Arg1549Gly)
|
|
|
NM_004304.5(ALK):c.4648C>G (p.Leu1550Val)
|
rs886055928
|
|
NM_004304.5(ALK):c.4649T>C (p.Leu1550Pro)
|
rs1668930030
|
|
NM_004304.5(ALK):c.464T>G (p.Val155Gly)
|
rs1206463887
|
|
NM_004304.5(ALK):c.4654G>A (p.Gly1552Arg)
|
|
|
NM_004304.5(ALK):c.4654G>C (p.Gly1552Arg)
|
rs771570579
|
|
NM_004304.5(ALK):c.4654G>T (p.Gly1552Trp)
|
rs771570579
|
|
NM_004304.5(ALK):c.4655G>A (p.Gly1552Glu)
|
|
|
NM_004304.5(ALK):c.4655G>C (p.Gly1552Ala)
|
rs1668929634
|
|
NM_004304.5(ALK):c.4655G>T (p.Gly1552Val)
|
rs1668929634
|
|
NM_004304.5(ALK):c.4656G>T (p.Gly1552=)
|
rs952457982
|
|
NM_004304.5(ALK):c.4657G>A (p.Ala1553Thr)
|
rs745390287
|
|
NM_004304.5(ALK):c.4657G>C (p.Ala1553Pro)
|
rs745390287
|
|
NM_004304.5(ALK):c.4657G>T (p.Ala1553Ser)
|
rs745390287
|
|
NM_004304.5(ALK):c.4664T>C (p.Leu1555Pro)
|
|
|
NM_004304.5(ALK):c.4666C>G (p.Leu1556Val)
|
|
|
NM_004304.5(ALK):c.4666C>T (p.Leu1556Phe)
|
rs1214400523
|
|
NM_004304.5(ALK):c.466G>A (p.Gly156Arg)
|
rs761318889
|
|
NM_004304.5(ALK):c.4670T>C (p.Leu1557Pro)
|
|
|
NM_004304.5(ALK):c.4672G>A (p.Glu1558Lys)
|
|
|
NM_004304.5(ALK):c.4673A>G (p.Glu1558Gly)
|
rs1668928402
|
|
NM_004304.5(ALK):c.4673_4674delinsTC (p.Glu1558Val)
|
rs2148137555
|
|
NM_004304.5(ALK):c.4675C>T (p.Pro1559Ser)
|
|
|
NM_004304.5(ALK):c.4677del (p.Ser1560fs)
|
rs2148137540
|
|
NM_004304.5(ALK):c.4678T>C (p.Ser1560Pro)
|
|
|
NM_004304.5(ALK):c.4678T>G (p.Ser1560Ala)
|
|
|
NM_004304.5(ALK):c.4682C>T (p.Ser1561Leu)
|
rs1209157216
|
|
NM_004304.5(ALK):c.4685T>C (p.Leu1562Pro)
|
|
|
NM_004304.5(ALK):c.4687A>G (p.Thr1563Ala)
|
rs1668927499
|
|
NM_004304.5(ALK):c.4690G>A (p.Ala1564Thr)
|
rs1019065457
|
|
NM_004304.5(ALK):c.4696A>G (p.Met1566Val)
|
rs1558603299
|
|
NM_004304.5(ALK):c.4697T>C (p.Met1566Thr)
|
rs1356952469
|
|
NM_004304.5(ALK):c.4699A>G (p.Lys1567Glu)
|
|
|
NM_004304.5(ALK):c.469C>A (p.Pro157Thr)
|
rs74774946
|
|
NM_004304.5(ALK):c.46A>C (p.Thr16Pro)
|
rs1572504096
|
|
NM_004304.5(ALK):c.46A>G (p.Thr16Ala)
|
rs1572504096
|
|
NM_004304.5(ALK):c.4705G>A (p.Val1569Ile)
|
|
|
NM_004304.5(ALK):c.4706T>C (p.Val1569Ala)
|
rs1668926110
|
|
NM_004304.5(ALK):c.4708C>G (p.Pro1570Ala)
|
rs2148137416
|
|
NM_004304.5(ALK):c.4708C>T (p.Pro1570Ser)
|
|
|
NM_004304.5(ALK):c.4709C>T (p.Pro1570Leu)
|
rs1668925964
|
|
NM_004304.5(ALK):c.4717A>G (p.Arg1573Gly)
|
rs1460362626
|
|
NM_004304.5(ALK):c.4720C>A (p.Leu1574Ile)
|
|
|
NM_004304.5(ALK):c.4724G>C (p.Arg1575Pro)
|
rs745349865
|
|
NM_004304.5(ALK):c.4726C>G (p.His1576Asp)
|
|
|
NM_004304.5(ALK):c.4727A>G (p.His1576Arg)
|
rs2148137340
|
|
NM_004304.5(ALK):c.4729T>C (p.Phe1577Leu)
|
rs200829376
|
|
NM_004304.5(ALK):c.472C>T (p.Pro158Ser)
|
rs536284304
|
|
NM_004304.5(ALK):c.4730T>C (p.Phe1577Ser)
|
|
|
NM_004304.5(ALK):c.4733C>T (p.Pro1578Leu)
|
rs1251627719
|
|
NM_004304.5(ALK):c.4737T>A (p.Cys1579Ter)
|
rs553333897
|
|
NM_004304.5(ALK):c.4739G>T (p.Gly1580Val)
|
|
|
NM_004304.5(ALK):c.4741A>T (p.Asn1581Tyr)
|
|
|
NM_004304.5(ALK):c.4742A>C (p.Asn1581Thr)
|
rs1668924453
|
|
NM_004304.5(ALK):c.4743T>A (p.Asn1581Lys)
|
|
|
NM_004304.5(ALK):c.4745T>C (p.Val1582Ala)
|
rs2148137261
|
|
NM_004304.5(ALK):c.4747A>G (p.Asn1583Asp)
|
rs781448587
|
|
NM_004304.5(ALK):c.4748A>T (p.Asn1583Ile)
|
|
|
NM_004304.5(ALK):c.474del (p.Glu160fs)
|
rs1244823020
|
|
NM_004304.5(ALK):c.474dup (p.Gly159fs)
|
rs1244823020
|
|
NM_004304.5(ALK):c.4751A>C (p.Tyr1584Ser)
|
|
|
NM_004304.5(ALK):c.4752C>G (p.Tyr1584Ter)
|
|
|
NM_004304.5(ALK):c.4753G>A (p.Gly1585Ser)
|
rs1573077410
|
|
NM_004304.5(ALK):c.4756T>C (p.Tyr1586His)
|
|
|
NM_004304.5(ALK):c.4757A>G (p.Tyr1586Cys)
|
|
|
NM_004304.5(ALK):c.4760A>C (p.Gln1587Pro)
|
|
|
NM_004304.5(ALK):c.4760A>T (p.Gln1587Leu)
|
|
|
NM_004304.5(ALK):c.4763A>C (p.Gln1588Pro)
|
rs2148137204
|
|
NM_004304.5(ALK):c.4765C>T (p.Gln1589Ter)
|
|
|
NM_004304.5(ALK):c.4768G>C (p.Gly1590Arg)
|
rs190639819
|
|
NM_004304.5(ALK):c.4769G>A (p.Gly1590Asp)
|
rs1457558507
|
|
NM_004304.5(ALK):c.4769G>T (p.Gly1590Val)
|
rs1457558507
|
|
NM_004304.5(ALK):c.4773G>T (p.Leu1591Phe)
|
|
|
NM_004304.5(ALK):c.4775C>T (p.Pro1592Leu)
|
rs1668922506
|
|
NM_004304.5(ALK):c.4779_4789del (p.Leu1593fs)
|
|
|
NM_004304.5(ALK):c.4780G>A (p.Glu1594Lys)
|
rs767191161
|
|
NM_004304.5(ALK):c.4783G>T (p.Ala1595Ser)
|
rs1668921952
|
|
NM_004304.5(ALK):c.4784C>A (p.Ala1595Asp)
|
|
|
NM_004304.5(ALK):c.4784C>T (p.Ala1595Val)
|
|
|
NM_004304.5(ALK):c.4786G>A (p.Ala1596Thr)
|
rs748822593
|
|
NM_004304.5(ALK):c.4789A>G (p.Thr1597Ala)
|
|
|
NM_004304.5(ALK):c.478G>T (p.Glu160Ter)
|
|
|
NM_004304.5(ALK):c.4798G>A (p.Gly1600Arg)
|
|
|
NM_004304.5(ALK):c.47C>G (p.Thr16Arg)
|
|
|
NM_004304.5(ALK):c.47C>T (p.Thr16Met)
|
|
|
NM_004304.5(ALK):c.4805G>C (p.Gly1602Ala)
|
|
|
NM_004304.5(ALK):c.4807C>T (p.His1603Tyr)
|
|
|
NM_004304.5(ALK):c.4808A>T (p.His1603Leu)
|
rs1668920233
|
|
NM_004304.5(ALK):c.4812C>A (p.Tyr1604Ter)
|
rs753750497
|
|
NM_004304.5(ALK):c.4812C>G (p.Tyr1604Ter)
|
|
|
NM_004304.5(ALK):c.481G>A (p.Ala161Thr)
|
|
|
NM_004304.5(ALK):c.481G>T (p.Ala161Ser)
|
|
|
NM_004304.5(ALK):c.4825C>A (p.Leu1609Met)
|
|
|
NM_004304.5(ALK):c.4828_4854dup (p.Lys1610_Pro1618dup)
|
rs1668918005
|
|
NM_004304.5(ALK):c.482C>A (p.Ala161Glu)
|
rs2148443167
|
|
NM_004304.5(ALK):c.482C>T (p.Ala161Val)
|
|
|
NM_004304.5(ALK):c.4832G>A (p.Ser1611Asn)
|
|
|
NM_004304.5(ALK):c.4832G>T (p.Ser1611Ile)
|
rs1668918898
|
|
NM_004304.5(ALK):c.4833_4836del (p.Ser1611fs)
|
rs1558603069
|
|
NM_004304.5(ALK):c.4836G>C (p.Lys1612Asn)
|
rs78174819
|
|
NM_004304.5(ALK):c.4836G>T (p.Lys1612Asn)
|
|
|
NM_004304.5(ALK):c.4840A>T (p.Ser1614Cys)
|
|
|
NM_004304.5(ALK):c.4844T>C (p.Met1615Thr)
|
rs1668918393
|
|
NM_004304.5(ALK):c.484G>A (p.Ala162Thr)
|
|
|
NM_004304.5(ALK):c.4851G>T (p.Gln1617His)
|
|
|
NM_004304.5(ALK):c.4852C>T (p.Pro1618Ser)
|
rs1668918068
|
|
NM_004304.5(ALK):c.4855G>A (p.Gly1619Arg)
|
|
|
NM_004304.5(ALK):c.4856G>T (p.Gly1619Val)
|
|
|
NM_004304.5(ALK):c.485C>T (p.Ala162Val)
|
rs1572503074
|
|
NM_004304.5(ALK):c.4860C>G (p.Pro1620=)
|
|
|
NM_004304.5(ALK):c.4860_*12del (p.Ter1621LeuextTer?)
|
rs1456617295
|
|
NM_004304.5(ALK):c.4861T>C (p.Ter1621Arg)
|
rs2148136874
|
|
NM_004304.5(ALK):c.4861_*4del (p.Ter1621GlyextTer?)
|
|
|
NM_004304.5(ALK):c.487G>A (p.Val163Met)
|
rs55697431
|
|
NM_004304.5(ALK):c.491G>A (p.Gly164Glu)
|
|
|
NM_004304.5(ALK):c.4G>A (p.Gly2Arg)
|
rs1667974338
|
|
NM_004304.5(ALK):c.505A>G (p.Asn169Asp)
|
rs932619554
|
|
NM_004304.5(ALK):c.507T>C (p.Asn169=)
|
rs780271684
|
|
NM_004304.5(ALK):c.508C>T (p.Leu170Phe)
|
|
|
NM_004304.5(ALK):c.510C>T (p.Leu170=)
|
rs886055933
|
|
NM_004304.5(ALK):c.512G>C (p.Ser171Thr)
|
|
|
NM_004304.5(ALK):c.516G>T (p.Glu172Asp)
|
rs1667950612
|
|
NM_004304.5(ALK):c.517C>G (p.Leu173Val)
|
rs760343255
|
|
NM_004304.5(ALK):c.518T>C (p.Leu173Pro)
|
|
|
NM_004304.5(ALK):c.523A>G (p.Ser175Gly)
|
rs767019998
|
|
NM_004304.5(ALK):c.527G>C (p.Trp176Ser)
|
|
|
NM_004304.5(ALK):c.530G>A (p.Trp177Ter)
|
|
|
NM_004304.5(ALK):c.531G>T (p.Trp177Cys)
|
rs2148443045
|
|
NM_004304.5(ALK):c.532A>G (p.Ile178Val)
|
rs1667950122
|
|
NM_004304.5(ALK):c.534T>G (p.Ile178Met)
|
|
|
NM_004304.5(ALK):c.535C>T (p.Arg179Cys)
|
rs62129830
|
|
NM_004304.5(ALK):c.536G>A (p.Arg179His)
|
rs1316424431
|
|
NM_004304.5(ALK):c.536G>T (p.Arg179Leu)
|
rs1316424431
|
|
NM_004304.5(ALK):c.540A>C (p.Gln180His)
|
rs1572502948
|
|
NM_004304.5(ALK):c.542G>A (p.Gly181Asp)
|
|
|
NM_004304.5(ALK):c.544G>A (p.Glu182Lys)
|
|
|
NM_004304.5(ALK):c.544G>T (p.Glu182Ter)
|
rs1229550831
|
|
NM_004304.5(ALK):c.545A>G (p.Glu182Gly)
|
|
|
NM_004304.5(ALK):c.548G>A (p.Gly183Glu)
|
rs1060500223
|
|
NM_004304.5(ALK):c.550C>T (p.Arg184Ter)
|
|
|
NM_004304.5(ALK):c.551G>T (p.Arg184Leu)
|
rs1558549514
|
|
NM_004304.5(ALK):c.556A>G (p.Arg186Gly)
|
|
|
NM_004304.5(ALK):c.557G>A (p.Arg186Lys)
|
rs774403380
|
|
NM_004304.5(ALK):c.558G>C (p.Arg186Ser)
|
rs1558549504
|
|
NM_004304.5(ALK):c.55G>C (p.Val19Leu)
|
rs1057384991
|
|
NM_004304.5(ALK):c.560T>A (p.Ile187Asn)
|
rs2148442990
|
|
NM_004304.5(ALK):c.563G>A (p.Arg188His)
|
rs770625956
|
|
NM_004304.5(ALK):c.563G>C (p.Arg188Pro)
|
|
|
NM_004304.5(ALK):c.563G>T (p.Arg188Leu)
|
|
|
NM_004304.5(ALK):c.566T>C (p.Leu189Pro)
|
|
|
NM_004304.5(ALK):c.569T>C (p.Met190Thr)
|
rs1572502891
|
|
NM_004304.5(ALK):c.571C>T (p.Pro191Ser)
|
|
|
NM_004304.5(ALK):c.574G>C (p.Glu192Gln)
|
|
|
NM_004304.5(ALK):c.574G>T (p.Glu192Ter)
|
|
|
NM_004304.5(ALK):c.575A>G (p.Glu192Gly)
|
|
|
NM_004304.5(ALK):c.576G>C (p.Glu192Asp)
|
|
|
NM_004304.5(ALK):c.578A>T (p.Lys193Met)
|
|
|
NM_004304.5(ALK):c.583G>A (p.Ala195Thr)
|
rs138296547
|
|
NM_004304.5(ALK):c.58G>A (p.Gly20Ser)
|
|
|
NM_004304.5(ALK):c.590A>G (p.Glu197Gly)
|
|
|
NM_004304.5(ALK):c.591A>T (p.Glu197Asp)
|
|
|
NM_004304.5(ALK):c.592G>T (p.Val198Leu)
|
|
|
NM_004304.5(ALK):c.593T>C (p.Val198Ala)
|
|
|
NM_004304.5(ALK):c.595G>A (p.Gly199Ser)
|
rs747517546
|
|
NM_004304.5(ALK):c.596G>A (p.Gly199Asp)
|
rs1292996434
|
|
NM_004304.5(ALK):c.596G>C (p.Gly199Ala)
|
|
|
NM_004304.5(ALK):c.599G>C (p.Arg200Thr)
|
rs978946990
|
|
NM_004304.5(ALK):c.59G>A (p.Gly20Asp)
|
rs1572504071
|
|
NM_004304.5(ALK):c.5G>C (p.Gly2Ala)
|
|
|
NM_004304.5(ALK):c.602_603del (p.Glu201fs)
|
|
|
NM_004304.5(ALK):c.605G>A (p.Gly202Glu)
|
rs1060500224
|
|
NM_004304.5(ALK):c.608G>A (p.Arg203Lys)
|
|
|
NM_004304.5(ALK):c.609G>C (p.Arg203Ser)
|
|
|
NM_004304.5(ALK):c.611T>C (p.Leu204Pro)
|
rs1426655261
|
|
NM_004304.5(ALK):c.614C>T (p.Ser205Phe)
|
rs2148442872
|
|
NM_004304.5(ALK):c.615C>A (p.Ser205=)
|
rs567498111
|
|
NM_004304.5(ALK):c.616G>A (p.Ala206Thr)
|
rs141093002
|
|
NM_004304.5(ALK):c.617C>T (p.Ala206Val)
|
rs1337143722
|
|
NM_004304.5(ALK):c.61T>C (p.Ser21Pro)
|
rs1275224090
|
|
NM_004304.5(ALK):c.620C>T (p.Ala207Val)
|
rs2148442860
|
|
NM_004304.5(ALK):c.625C>G (p.Arg209Gly)
|
rs1365924896
|
|
NM_004304.5(ALK):c.625C>T (p.Arg209Cys)
|
|
|
NM_004304.5(ALK):c.628_629delinsCT (p.Ala210Leu)
|
rs2148442846
|
|
NM_004304.5(ALK):c.62C>T (p.Ser21Phe)
|
|
|
NM_004304.5(ALK):c.636G>T (p.Gln212His)
|
|
|
NM_004304.5(ALK):c.637C>A (p.Pro213Thr)
|
|
|
NM_004304.5(ALK):c.637C>T (p.Pro213Ser)
|
|
|
NM_004304.5(ALK):c.643C>A (p.Leu215Ile)
|
|
|
NM_004304.5(ALK):c.645del (p.Leu216fs)
|
|
|
NM_004304.5(ALK):c.646C>G (p.Leu216Val)
|
rs1035402110
|
|
NM_004304.5(ALK):c.647T>G (p.Leu216Arg)
|
|
|
NM_004304.5(ALK):c.649T>C (p.Phe217Leu)
|
|
|
NM_004304.5(ALK):c.654G>C (p.Gln218His)
|
|
|
NM_004304.5(ALK):c.655A>C (p.Ile219Leu)
|
rs886055932
|
|
NM_004304.5(ALK):c.656T>C (p.Ile219Thr)
|
rs2148442808
|
|
NM_004304.5(ALK):c.660C>T (p.Phe220=)
|
rs1667944556
|
|
NM_004304.5(ALK):c.661G>A (p.Gly221Arg)
|
rs199584443
|
|
NM_004304.5(ALK):c.662G>A (p.Gly221Glu)
|
rs1667944325
|
|
NM_004304.5(ALK):c.662G>C (p.Gly221Ala)
|
|
|
NM_004304.5(ALK):c.665C>T (p.Thr222Ile)
|
rs2148442788
|
|
NM_004304.5(ALK):c.667+1G>A
|
|
|
NM_004304.5(ALK):c.667+4A>G
|
|
|
NM_004304.5(ALK):c.668-3C>T
|
rs1679303988
|
|
NM_004304.5(ALK):c.668G>A (p.Gly223Asp)
|
rs775574527
|
|
NM_004304.5(ALK):c.670C>A (p.His224Asn)
|
rs1407129567
|
|
NM_004304.5(ALK):c.673A>G (p.Ser225Gly)
|
rs1456830388
|
|
NM_004304.5(ALK):c.677C>T (p.Ser226Phe)
|
rs1679303562
|
|
NM_004304.5(ALK):c.682G>C (p.Glu228Gln)
|
rs2148307408
|
|
NM_004304.5(ALK):c.683A>G (p.Glu228Gly)
|
rs2148307404
|
|
NM_004304.5(ALK):c.689C>A (p.Pro230Gln)
|
|
|
NM_004304.5(ALK):c.689C>T (p.Pro230Leu)
|
rs1679303194
|
|
NM_004304.5(ALK):c.691A>C (p.Thr231Pro)
|
rs1060500230
|
|
NM_004304.5(ALK):c.691A>G (p.Thr231Ala)
|
rs1060500230
|
|
NM_004304.5(ALK):c.695A>C (p.Asn232Thr)
|
rs774904862
|
|
NM_004304.5(ALK):c.695A>G (p.Asn232Ser)
|
|
|
NM_004304.5(ALK):c.696C>A (p.Asn232Lys)
|
|
|
NM_004304.5(ALK):c.697A>T (p.Met233Leu)
|
|
|
NM_004304.5(ALK):c.700C>A (p.Pro234Thr)
|
rs1060500209
|
|
NM_004304.5(ALK):c.701C>G (p.Pro234Arg)
|
|
|
NM_004304.5(ALK):c.701C>T (p.Pro234Leu)
|
rs948241251
|
|
NM_004304.5(ALK):c.701_702delinsGA (p.Pro234Arg)
|
rs1679302255
|
|
NM_004304.5(ALK):c.704_705insCCCTTC (p.235SP[3])
|
rs2148307359
|
|
NM_004304.5(ALK):c.709_711del (p.Ser237del)
|
rs1573580166
|
|
NM_004304.5(ALK):c.712C>T (p.Pro238Ser)
|
|
|
NM_004304.5(ALK):c.712_714del (p.Pro238del)
|
rs1311300230
|
|
NM_004304.5(ALK):c.715G>T (p.Asp239Tyr)
|
|
|
NM_004304.5(ALK):c.719A>T (p.Tyr240Phe)
|
|
|
NM_004304.5(ALK):c.71G>A (p.Gly24Glu)
|
|
|
NM_004304.5(ALK):c.722T>C (p.Phe241Ser)
|
|
|
NM_004304.5(ALK):c.723T>G (p.Phe241Leu)
|
|
|
NM_004304.5(ALK):c.724A>G (p.Thr242Ala)
|
rs2148307303
|
|
NM_004304.5(ALK):c.725C>T (p.Thr242Ile)
|
rs1679301106
|
|
NM_004304.5(ALK):c.739T>C (p.Trp247Arg)
|
|
|
NM_004304.5(ALK):c.740G>A (p.Trp247Ter)
|
rs1558457342
|
|
NM_004304.5(ALK):c.741G>A (p.Trp247Ter)
|
|
|
NM_004304.5(ALK):c.741G>C (p.Trp247Cys)
|
rs2148307275
|
|
NM_004304.5(ALK):c.742A>G (p.Ile248Val)
|
|
|
NM_004304.5(ALK):c.744A>G (p.Ile248Met)
|
rs1573580109
|
|
NM_004304.5(ALK):c.745A>G (p.Met249Val)
|
rs1679300524
|
|
NM_004304.5(ALK):c.746T>C (p.Met249Thr)
|
|
|
NM_004304.5(ALK):c.748A>G (p.Lys250Glu)
|
rs767630195
|
|
NM_004304.5(ALK):c.74C>A (p.Thr25Asn)
|
rs753812499
|
|
NM_004304.5(ALK):c.752A>G (p.Asp251Gly)
|
|
|
NM_004304.5(ALK):c.755C>T (p.Ser252Phe)
|
rs868525145
|
|
NM_004304.5(ALK):c.758T>A (p.Phe253Tyr)
|
|
|
NM_004304.5(ALK):c.758T>C (p.Phe253Ser)
|
rs759574066
|
|
NM_004304.5(ALK):c.761C>G (p.Pro254Arg)
|
rs1553351744
|
|
NM_004304.5(ALK):c.770C>G (p.Ser257Cys)
|
|
|
NM_004304.5(ALK):c.770C>T (p.Ser257Phe)
|
rs1679299604
|
|
NM_004304.5(ALK):c.772C>T (p.His258Tyr)
|
rs1679299436
|
|
NM_004304.5(ALK):c.773A>G (p.His258Arg)
|
rs770063749
|
|
NM_004304.5(ALK):c.775C>A (p.Arg259Ser)
|
rs771593278
|
|
NM_004304.5(ALK):c.775C>G (p.Arg259Gly)
|
rs771593278
|
|
NM_004304.5(ALK):c.776G>C (p.Arg259Pro)
|
rs138686378
|
|
NM_004304.5(ALK):c.779G>A (p.Ser260Asn)
|
rs1679298966
|
|
NM_004304.5(ALK):c.77G>A (p.Gly26Asp)
|
rs755942639
|
|
NM_004304.5(ALK):c.780C>A (p.Ser260Arg)
|
|
|
NM_004304.5(ALK):c.781C>G (p.Arg261Gly)
|
|
|
NM_004304.5(ALK):c.781C>T (p.Arg261Ter)
|
rs972790555
|
|
NM_004304.5(ALK):c.782G>A (p.Arg261Gln)
|
rs375097381
|
|
NM_004304.5(ALK):c.782G>T (p.Arg261Leu)
|
rs375097381
|
|
NM_004304.5(ALK):c.784T>C (p.Tyr262His)
|
rs2148307204
|
|
NM_004304.5(ALK):c.787+4A>C
|
rs377100808
|
|
NM_004304.5(ALK):c.787+6T>C
|
rs1558457269
|
|
NM_004304.5(ALK):c.787+7A>G
|
rs1679298159
|
|
NM_004304.5(ALK):c.787G>A (p.Gly263Ser)
|
|
|
NM_004304.5(ALK):c.788-14G>A
|
|
|
NM_004304.5(ALK):c.788-1G>A
|
|
|
NM_004304.5(ALK):c.788-2A>G
|
rs1678513810
|
|
NM_004304.5(ALK):c.788-3C>T
|
|
|
NM_004304.5(ALK):c.788G>A (p.Gly263Asp)
|
|
|
NM_004304.5(ALK):c.788G>C (p.Gly263Ala)
|
|
|
NM_004304.5(ALK):c.794A>G (p.Glu265Gly)
|
rs140497106
|
|
NM_004304.5(ALK):c.7G>A (p.Ala3Thr)
|
rs1446332510
|
|
NM_004304.5(ALK):c.806A>T (p.Asp269Val)
|
|
|
NM_004304.5(ALK):c.812C>G (p.Pro271Arg)
|
rs1553348534
|
|
NM_004304.5(ALK):c.813del (p.Cys272fs)
|
|
|
NM_004304.5(ALK):c.814T>C (p.Cys272Arg)
|
|
|
NM_004304.5(ALK):c.817G>A (p.Glu273Lys)
|
rs2148289990
|
|
NM_004304.5(ALK):c.817G>T (p.Glu273Ter)
|
|
|
NM_004304.5(ALK):c.820C>A (p.Leu274Met)
|
rs2148289980
|
|
NM_004304.5(ALK):c.822G>A (p.Leu274=)
|
rs1265006535
|
|
NM_004304.5(ALK):c.823G>C (p.Glu275Gln)
|
|
|
NM_004304.5(ALK):c.825G>T (p.Glu275Asp)
|
rs924625340
|
|
NM_004304.5(ALK):c.826T>C (p.Tyr276His)
|
rs1553348530
|
|
NM_004304.5(ALK):c.82C>G (p.Arg28Gly)
|
rs1060500231
|
|
NM_004304.5(ALK):c.82C>T (p.Arg28Cys)
|
rs1060500231
|
|
NM_004304.5(ALK):c.830C>A (p.Ser277Tyr)
|
rs1486167712
|
|
NM_004304.5(ALK):c.830C>G (p.Ser277Cys)
|
rs1486167712
|
|
NM_004304.5(ALK):c.832C>A (p.Pro278Thr)
|
rs762417760
|
|
NM_004304.5(ALK):c.833C>G (p.Pro278Arg)
|
rs199703254
|
|
NM_004304.5(ALK):c.838C>G (p.Leu280Val)
|
|
|
NM_004304.5(ALK):c.83G>A (p.Arg28His)
|
rs1667969323
|
|
NM_004304.5(ALK):c.841C>T (p.His281Tyr)
|
|
|
NM_004304.5(ALK):c.842A>G (p.His281Arg)
|
rs1678510762
|
|
NM_004304.5(ALK):c.844G>A (p.Asp282Asn)
|
rs1678510612
|
|
NM_004304.5(ALK):c.844G>T (p.Asp282Tyr)
|
|
|
NM_004304.5(ALK):c.850A>G (p.Arg284Gly)
|
rs1199266892
|
|
NM_004304.5(ALK):c.850A>T (p.Arg284Trp)
|
rs1199266892
|
|
NM_004304.5(ALK):c.851G>A (p.Arg284Lys)
|
rs1558446131
|
|
NM_004304.5(ALK):c.85G>A (p.Ala29Thr)
|
rs1326321652
|
|
NM_004304.5(ALK):c.85G>T (p.Ala29Ser)
|
rs1326321652
|
|
NM_004304.5(ALK):c.861C>G (p.Ser287Arg)
|
rs1321970113
|
|
NM_004304.5(ALK):c.862T>G (p.Trp288Gly)
|
|
|
NM_004304.5(ALK):c.863G>A (p.Trp288Ter)
|
rs1678509815
|
|
NM_004304.5(ALK):c.863G>T (p.Trp288Leu)
|
rs1678509815
|
|
NM_004304.5(ALK):c.864G>C (p.Trp288Cys)
|
|
|
NM_004304.5(ALK):c.864G>T (p.Trp288Cys)
|
rs1678509747
|
|
NM_004304.5(ALK):c.865T>C (p.Ser289Pro)
|
rs1678509684
|
|
NM_004304.5(ALK):c.866C>T (p.Ser289Phe)
|
|
|
NM_004304.5(ALK):c.86C>T (p.Ala29Val)
|
rs1667969126
|
|
NM_004304.5(ALK):c.870G>A (p.Trp290Ter)
|
rs1558446122
|
|
NM_004304.5(ALK):c.871C>A (p.Arg291Ser)
|
rs748854412
|
|
NM_004304.5(ALK):c.874C>G (p.Arg292Gly)
|
rs201750304
|
|
NM_004304.5(ALK):c.874C>T (p.Arg292Cys)
|
rs201750304
|
|
NM_004304.5(ALK):c.875G>T (p.Arg292Leu)
|
rs149145987
|
|
NM_004304.5(ALK):c.877A>G (p.Ile293Val)
|
rs2148289798
|
|
NM_004304.5(ALK):c.881C>T (p.Pro294Leu)
|
rs1678508737
|
|
NM_004304.5(ALK):c.886G>C (p.Glu296Gln)
|
rs56077855
|
|
NM_004304.5(ALK):c.887A>T (p.Glu296Val)
|
rs1678508228
|
|
NM_004304.5(ALK):c.889G>A (p.Glu297Lys)
|
rs2148289760
|
|
NM_004304.5(ALK):c.892G>T (p.Ala298Ser)
|
rs577240830
|
|
NM_004304.5(ALK):c.893C>T (p.Ala298Val)
|
rs750435024
|
|
NM_004304.5(ALK):c.896C>A (p.Ser299Tyr)
|
|
|
NM_004304.5(ALK):c.898C>A (p.Gln300Lys)
|
rs1254596043
|
|
NM_004304.5(ALK):c.89G>A (p.Gly30Asp)
|
rs1558550220
|
|
NM_004304.5(ALK):c.8C>T (p.Ala3Val)
|
|
|
NM_004304.5(ALK):c.900G>T (p.Gln300His)
|
rs1233069820
|
|
NM_004304.5(ALK):c.901A>G (p.Met301Val)
|
rs754427541
|
|
NM_004304.5(ALK):c.906C>A (p.Asp302Glu)
|
|
|
NM_004304.5(ALK):c.914A>G (p.Asp305Gly)
|
rs774123293
|
|
NM_004304.5(ALK):c.916G>A (p.Gly306Arg)
|
rs879113112
|
|
NM_004304.5(ALK):c.917G>A (p.Gly306Glu)
|
rs2148289672
|
|
NM_004304.5(ALK):c.91T>G (p.Ser31Ala)
|
rs1026192345
|
|
NM_004304.5(ALK):c.920C>T (p.Pro307Leu)
|
|
|
NM_004304.5(ALK):c.925del (p.Ala309fs)
|
rs1573561737
|
|
NM_004304.5(ALK):c.925dup (p.Ala309fs)
|
rs1573561737
|
|
NM_004304.5(ALK):c.926C>A (p.Ala309Glu)
|
|
|
NM_004304.5(ALK):c.926C>T (p.Ala309Val)
|
rs748017801
|
|
NM_004304.5(ALK):c.928G>C (p.Glu310Gln)
|
rs2148289633
|
|
NM_004304.5(ALK):c.931C>A (p.Arg311Ser)
|
rs149837139
|
|
NM_004304.5(ALK):c.932G>C (p.Arg311Pro)
|
rs150966028
|
|
NM_004304.5(ALK):c.934_936del (p.Ser312del)
|
rs1678505254
|
|
NM_004304.5(ALK):c.937A>C (p.Lys313Gln)
|
|
|
NM_004304.5(ALK):c.943A>T (p.Met315Leu)
|
|
|
NM_004304.5(ALK):c.944T>C (p.Met315Thr)
|
rs1678504929
|
|
NM_004304.5(ALK):c.945G>T (p.Met315Ile)
|
rs2148289584
|
|
NM_004304.5(ALK):c.946C>G (p.Pro316Ala)
|
|
|
NM_004304.5(ALK):c.946C>T (p.Pro316Ser)
|
rs1254406721
|
|
NM_004304.5(ALK):c.952+1G>A
|
rs1678504706
|
|
NM_004304.5(ALK):c.952+3A>G
|
rs1200110360
|
|
NM_004304.5(ALK):c.952+4A>G
|
|
|
NM_004304.5(ALK):c.952G>A (p.Gly318Ser)
|
rs878854661
|
|
NM_004304.5(ALK):c.953-2A>G
|
|
|
NM_004304.5(ALK):c.953G>A (p.Gly318Asp)
|
rs770893847
|
|
NM_004304.5(ALK):c.953G>C (p.Gly318Ala)
|
|
|
NM_004304.5(ALK):c.953G>T (p.Gly318Val)
|
|
|
NM_004304.5(ALK):c.95C>T (p.Pro32Leu)
|
rs759748510
|
|
NM_004304.5(ALK):c.961C>T (p.Leu321Phe)
|
|
|
NM_004304.5(ALK):c.966_968del (p.Leu323del)
|
rs1673136781
|
|
NM_004304.5(ALK):c.967C>T (p.Leu323Phe)
|
|
|
NM_004304.5(ALK):c.970A>G (p.Asn324Asp)
|
|
|
NM_004304.5(ALK):c.971A>G (p.Asn324Ser)
|
rs1558370621
|
|
NM_004304.5(ALK):c.97G>T (p.Ala33Ser)
|
|
|
NM_004304.5(ALK):c.985T>G (p.Ser329Ala)
|
rs1673136181
|
|
NM_004304.5(ALK):c.98C>G (p.Ala33Gly)
|
rs1037134870
|
|
NM_004304.5(ALK):c.994A>G (p.Thr332Ala)
|
rs1673135833
|
|
NM_004484.3(GPC3):c.-197-?_*379+?dup
|
|
|
NM_004484.4(GPC3):c.1004A>C (p.Gln335Pro)
|
rs2071687961
|
|
NM_004484.4(GPC3):c.1004A>G (p.Gln335Arg)
|
|
|
NM_004484.4(GPC3):c.1008G>C (p.Lys336Asn)
|
|
|
NM_004484.4(GPC3):c.100A>G (p.Thr34Ala)
|
rs1602581109
|
|
NM_004484.4(GPC3):c.1012G>A (p.Ala338Thr)
|
|
|
NM_004484.4(GPC3):c.1019A>G (p.Lys340Arg)
|
rs1603240431
|
|
NM_004484.4(GPC3):c.1020G>C (p.Lys340Asn)
|
rs2124479719
|
|
NM_004484.4(GPC3):c.1021C>G (p.Leu341Val)
|
rs1569426033
|
|
NM_004484.4(GPC3):c.1027A>G (p.Thr343Ala)
|
rs2071687500
|
|
NM_004484.4(GPC3):c.1030A>T (p.Thr344Ser)
|
rs2124479705
|
|
NM_004484.4(GPC3):c.1032+4A>G
|
rs2124479692
|
|
NM_004484.4(GPC3):c.1032+5G>A
|
rs2071687291
|
|
NM_004484.4(GPC3):c.1032T>C (p.Thr344=)
|
rs2124479695
|
|
NM_004484.4(GPC3):c.1036G>A (p.Gly346Ser)
|
|
|
NM_004484.4(GPC3):c.103T>G (p.Cys35Gly)
|
|
|
NM_004484.4(GPC3):c.1045T>C (p.Cys349Arg)
|
rs2071153160
|
|
NM_004484.4(GPC3):c.1048G>A (p.Ala350Thr)
|
rs2124437635
|
|
NM_004484.4(GPC3):c.1051C>T (p.His351Tyr)
|
rs2071153064
|
|
NM_004484.4(GPC3):c.1058AAC[1] (p.Gln354del)
|
rs1569416621
|
|
NM_004484.4(GPC3):c.1069T>G (p.Tyr357Asp)
|
|
|
NM_004484.4(GPC3):c.1085A>G (p.Tyr362Cys)
|
rs878854705
|
|
NM_004484.4(GPC3):c.1096C>T (p.Leu366Phe)
|
rs2124437551
|
|
NM_004484.4(GPC3):c.1099T>A (p.Phe367Ile)
|
|
|
NM_004484.4(GPC3):c.1103T>C (p.Ile368Thr)
|
rs1569416581
|
|
NM_004484.4(GPC3):c.1105G>A (p.Asp369Asn)
|
|
|
NM_004484.4(GPC3):c.1109A>G (p.Lys370Arg)
|
|
|
NM_004484.4(GPC3):c.1111A>C (p.Lys371Gln)
|
rs755221081
|
|
NM_004484.4(GPC3):c.1130A>T (p.His377Leu)
|
rs1060502172
|
|
NM_004484.4(GPC3):c.1139A>C (p.His380Pro)
|
|
|
NM_004484.4(GPC3):c.1139A>G (p.His380Arg)
|
rs1201293547
|
|
NM_004484.4(GPC3):c.113T>A (p.Val38Asp)
|
rs1602581095
|
|
NM_004484.4(GPC3):c.113T>C (p.Val38Ala)
|
rs1602581095
|
|
NM_004484.4(GPC3):c.1156A>G (p.Ser386Gly)
|
|
|
NM_004484.4(GPC3):c.1158C>A (p.Ser386Arg)
|
rs1317567175
|
|
NM_004484.4(GPC3):c.1158C>G (p.Ser386Arg)
|
rs1317567175
|
|
NM_004484.4(GPC3):c.1161AAG[1] (p.Arg389del)
|
rs1556271258
|
|
NM_004484.4(GPC3):c.1166+3G>A
|
rs1603228263
|
|
NM_004484.4(GPC3):c.1166+6A>G
|
rs2124437397
|
|
NM_004484.4(GPC3):c.1166G>T (p.Arg389Met)
|
|
|
NM_004484.4(GPC3):c.1168G>A (p.Glu390Lys)
|
|
|
NM_004484.4(GPC3):c.1169A>C (p.Glu390Ala)
|
|
|
NM_004484.4(GPC3):c.116G>T (p.Arg39Leu)
|
|
|
NM_004484.4(GPC3):c.1175T>C (p.Ile392Thr)
|
|
|
NM_004484.4(GPC3):c.1184T>G (p.Leu395Trp)
|
|
|
NM_004484.4(GPC3):c.1187A>G (p.Lys396Arg)
|
|
|
NM_004484.4(GPC3):c.1188G>C (p.Lys396Asn)
|
|
|
NM_004484.4(GPC3):c.1190C>T (p.Ser397Phe)
|
rs2071074547
|
|
NM_004484.4(GPC3):c.1196T>C (p.Ile399Thr)
|
|
|
NM_004484.4(GPC3):c.1198A>T (p.Ser400Cys)
|
rs1603226518
|
|
NM_004484.4(GPC3):c.1199G>A (p.Ser400Asn)
|
|
|
NM_004484.4(GPC3):c.11C>G (p.Thr4Ser)
|
|
|
NM_004484.4(GPC3):c.11C>T (p.Thr4Ile)
|
|
|
NM_004484.4(GPC3):c.1201T>A (p.Phe401Ile)
|
|
|
NM_004484.4(GPC3):c.1205A>G (p.Tyr402Cys)
|
rs1173924969
|
|
NM_004484.4(GPC3):c.1208G>C (p.Ser403Thr)
|
|
|
NM_004484.4(GPC3):c.1209T>G (p.Ser403Arg)
|
rs1456710707
|
|
NM_004484.4(GPC3):c.1214T>C (p.Leu405Ser)
|
rs2071073967
|
|
NM_004484.4(GPC3):c.1226T>G (p.Ile409Ser)
|
rs2071073649
|
|
NM_004484.4(GPC3):c.1228T>C (p.Cys410Arg)
|
|
|
NM_004484.4(GPC3):c.1231A>C (p.Ser411Arg)
|
rs2124430814
|
|
NM_004484.4(GPC3):c.1239C>A (p.Ser413Arg)
|
|
|
NM_004484.4(GPC3):c.1240C>T (p.Pro414Ser)
|
rs2071073330
|
|
NM_004484.4(GPC3):c.1243G>A (p.Val415Met)
|
|
|
NM_004484.4(GPC3):c.1262T>G (p.Leu421Arg)
|
|
|
NM_004484.4(GPC3):c.1264T>A (p.Cys422Ser)
|
rs1569415183
|
|
NM_004484.4(GPC3):c.126C>A (p.Phe42Leu)
|
rs1345541727
|
|
NM_004484.4(GPC3):c.1271A>G (p.Asn424Ser)
|
|
|
NM_004484.4(GPC3):c.1280A>G (p.Glu427Gly)
|
rs2071072569
|
|
NM_004484.4(GPC3):c.1285G>C (p.Val429Leu)
|
rs11539789
|
|
NM_004484.4(GPC3):c.1286T>C (p.Val429Ala)
|
rs755117392
|
|
NM_004484.4(GPC3):c.1288G>A (p.Glu430Lys)
|
rs2124430649
|
|
NM_004484.4(GPC3):c.1293-3C>T
|
|
|
NM_004484.4(GPC3):c.1293A>G (p.Arg431=)
|
|
|
NM_004484.4(GPC3):c.1301A>G (p.Gln434Arg)
|
|
|
NM_004484.4(GPC3):c.1306G>T (p.Ala436Ser)
|
rs1556233681
|
|
NM_004484.4(GPC3):c.1310C>G (p.Ala437Gly)
|
|
|
NM_004484.4(GPC3):c.1313G>A (p.Arg438Lys)
|
rs2070729910
|
|
NM_004484.4(GPC3):c.1315A>G (p.Asn439Asp)
|
rs2070729852
|
|
NM_004484.4(GPC3):c.1316A>G (p.Asn439Ser)
|
rs2124401875
|
|
NM_004484.4(GPC3):c.1330C>G (p.Gln444Glu)
|
rs1556233629
|
|
NM_004484.4(GPC3):c.1331A>G (p.Gln444Arg)
|
|
|
NM_004484.4(GPC3):c.1331A>T (p.Gln444Leu)
|
rs1053066164
|
|
NM_004484.4(GPC3):c.1336_1341del (p.Asn446_Leu447del)
|
|
|
NM_004484.4(GPC3):c.1361G>A (p.Gly454Asp)
|
|
|
NM_004484.4(GPC3):c.1367A>G (p.Glu456Gly)
|
|
|
NM_004484.4(GPC3):c.1369C>T (p.Pro457Ser)
|
|
|
NM_004484.4(GPC3):c.136C>G (p.Gln46Glu)
|
rs1556367745
|
|
NM_004484.4(GPC3):c.1370C>T (p.Pro457Leu)
|
|
|
NM_004484.4(GPC3):c.1381C>G (p.Gln461Glu)
|
rs1603215815
|
|
NM_004484.4(GPC3):c.1388T>C (p.Ile463Thr)
|
rs2124401790
|
|
NM_004484.4(GPC3):c.1394A>G (p.Lys465Arg)
|
|
|
NM_004484.4(GPC3):c.1405A>G (p.Ile469Val)
|
rs2070728648
|
|
NM_004484.4(GPC3):c.1409A>G (p.Asn470Ser)
|
rs1556233454
|
|
NM_004484.4(GPC3):c.140C>T (p.Pro47Leu)
|
rs2076562505
|
|
NM_004484.4(GPC3):c.1410C>G (p.Asn470Lys)
|
|
|
NM_004484.4(GPC3):c.1413+3A>G
|
rs2124401746
|
|
NM_004484.4(GPC3):c.1413+5G>A
|
rs2070728440
|
|
NM_004484.4(GPC3):c.1413G>A (p.Gln471=)
|
|
|
NM_004484.4(GPC3):c.1414-3C>A
|
|
|
NM_004484.4(GPC3):c.1414-3C>T
|
rs2069919599
|
|
NM_004484.4(GPC3):c.1424C>T (p.Thr475Ile)
|
rs2069919421
|
|
NM_004484.4(GPC3):c.1429T>A (p.Ser477Thr)
|
rs2069919041
|
|
NM_004484.4(GPC3):c.1438A>G (p.Lys480Glu)
|
|
|
NM_004484.4(GPC3):c.1450C>A (p.Leu484Met)
|
rs2124331070
|
|
NM_004484.4(GPC3):c.1453G>A (p.Asp485Asn)
|
rs750171653
|
|
NM_004484.4(GPC3):c.1453G>T (p.Asp485Tyr)
|
|
|
NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala)
|
rs2069918325
|
|
NM_004484.4(GPC3):c.1468G>A (p.Glu490Lys)
|
|
|
NM_004484.4(GPC3):c.149A>G (p.Lys50Arg)
|
|
|
NM_004484.4(GPC3):c.1502A>G (p.Asp501Gly)
|
rs2124330961
|
|
NM_004484.4(GPC3):c.1511A>G (p.Glu504Gly)
|
|
|
NM_004484.4(GPC3):c.1514G>T (p.Cys505Phe)
|
rs2069917028
|
|
NM_004484.4(GPC3):c.1516A>G (p.Ile506Val)
|
rs1603183279
|
|
NM_004484.4(GPC3):c.1519G>C (p.Gly507Arg)
|
|
|
NM_004484.4(GPC3):c.1523G>T (p.Gly508Val)
|
|
|
NM_004484.4(GPC3):c.1528G>A (p.Gly510Ser)
|
rs1556159260
|
|
NM_004484.4(GPC3):c.1534G>A (p.Gly512Arg)
|
rs1556159239
|
|
NM_004484.4(GPC3):c.1537A>C (p.Met513Leu)
|
rs2069916427
|
|
NM_004484.4(GPC3):c.1538T>A (p.Met513Lys)
|
rs2069916333
|
|
NM_004484.4(GPC3):c.1539G>A (p.Met513Ile)
|
|
|
NM_004484.4(GPC3):c.1541T>C (p.Ile514Thr)
|
|
|
NM_004484.4(GPC3):c.1553A>G (p.Asn518Ser)
|
|
|
NM_004484.4(GPC3):c.1553A>T (p.Asn518Ile)
|
rs2069915935
|
|
NM_004484.4(GPC3):c.1562G>A (p.Arg521His)
|
rs2069915768
|
|
NM_004484.4(GPC3):c.1571C>A (p.Ala524Glu)
|
|
|
NM_004484.4(GPC3):c.1573+5C>T
|
|
|
NM_004484.4(GPC3):c.1574-3C>A
|
|
|
NM_004484.4(GPC3):c.1582T>C (p.Tyr528His)
|
rs779769588
|
|
NM_004484.4(GPC3):c.1586A>G (p.Asp529Gly)
|
|
|
NM_004484.4(GPC3):c.1587T>A (p.Asp529Glu)
|
|
|
NM_004484.4(GPC3):c.158C>T (p.Pro53Leu)
|
|
|
NM_004484.4(GPC3):c.1592A>T (p.Asp531Val)
|
rs2069291115
|
|
NM_004484.4(GPC3):c.1594G>T (p.Val532Leu)
|
rs1603139499
|
|
NM_004484.4(GPC3):c.1595T>C (p.Val532Ala)
|
|
|
NM_004484.4(GPC3):c.1598ATG[1] (p.Asp534del)
|
|
|
NM_004484.4(GPC3):c.1600G>A (p.Asp534Asn)
|
rs2069290892
|
|
NM_004484.4(GPC3):c.1606C>T (p.Pro536Ser)
|
|
|
NM_004484.4(GPC3):c.1610G>C (p.Gly537Ala)
|
rs2069290389
|
|
NM_004484.4(GPC3):c.1613A>G (p.Asn538Ser)
|
rs2124257689
|
|
NM_004484.4(GPC3):c.1615A>G (p.Ser539Gly)
|
rs2069290326
|
|
NM_004484.4(GPC3):c.1617T>A (p.Ser539Arg)
|
|
|
NM_004484.4(GPC3):c.1631C>G (p.Pro544Arg)
|
|
|
NM_004484.4(GPC3):c.1636G>A (p.Asp546Asn)
|
rs2069289779
|
|
NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser)
|
rs2069289549
|
|
NM_004484.4(GPC3):c.1645A>G (p.Ile549Val)
|
rs2124257541
|
|
NM_004484.4(GPC3):c.1649G>C (p.Ser550Thr)
|
rs2069289201
|
|
NM_004484.4(GPC3):c.1659C>G (p.His553Gln)
|
rs2069288907
|
|
NM_004484.4(GPC3):c.1661A>G (p.Asn554Ser)
|
rs2069288846
|
|
NM_004484.4(GPC3):c.1661A>T (p.Asn554Ile)
|
|
|
NM_004484.4(GPC3):c.1663C>T (p.Leu555Phe)
|
rs990733015
|
|
NM_004484.4(GPC3):c.1669A>T (p.Asn557Tyr)
|
rs2069288554
|
|
NM_004484.4(GPC3):c.166C>T (p.Pro56Ser)
|
|
|
NM_004484.4(GPC3):c.1672G>A (p.Val558Ile)
|
rs2069288412
|
|
NM_004484.4(GPC3):c.1675C>T (p.His559Tyr)
|
|
|
NM_004484.4(GPC3):c.1676A>G (p.His559Arg)
|
|
|
NM_004484.4(GPC3):c.1679C>T (p.Ser560Phe)
|
|
|
NM_004484.4(GPC3):c.1681C>T (p.Pro561Ser)
|
rs1569375662
|
|
NM_004484.4(GPC3):c.1696A>G (p.Thr566Ala)
|
rs2069287938
|
|
NM_004484.4(GPC3):c.169G>A (p.Val57Met)
|
rs2076562120
|
|
NM_004484.4(GPC3):c.16C>G (p.Arg6Gly)
|
|
|
NM_004484.4(GPC3):c.1700G>C (p.Ser567Thr)
|
|
|
NM_004484.4(GPC3):c.1705G>A (p.Ala569Thr)
|
rs122453120
|
|
NM_004484.4(GPC3):c.170T>G (p.Val57Gly)
|
rs2124655641
|
|
NM_004484.4(GPC3):c.1711T>C (p.Ser571Pro)
|
rs2069287413
|
|
NM_004484.4(GPC3):c.1712C>T (p.Ser571Leu)
|
|
|
NM_004484.4(GPC3):c.1714G>A (p.Val572Met)
|
rs2069287188
|
|
NM_004484.4(GPC3):c.1714G>T (p.Val572Leu)
|
rs2069287188
|
|
NM_004484.4(GPC3):c.1718T>C (p.Val573Ala)
|
rs1603139289
|
|
NM_004484.4(GPC3):c.1723TTC[2] (p.Phe577del)
|
rs1269354535
|
|
NM_004484.4(GPC3):c.1734G>A (p.Leu578=)
|
rs2124257150
|
|
NM_004484.4(GPC3):c.1735G>A (p.Val579Met)
|
|
|
NM_004484.4(GPC3):c.1738C>T (p.His580Tyr)
|
rs1060502173
|
|
NM_004484.4(GPC3):c.1739A>C (p.His580Pro)
|
|
|
NM_004484.4(GPC3):c.1742G>T (p.Ter581Leu)
|
|
|
NM_004484.4(GPC3):c.176G>A (p.Gly59Glu)
|
|
|
NM_004484.4(GPC3):c.17G>T (p.Arg6Leu)
|
|
|
NM_004484.4(GPC3):c.181G>C (p.Asp61His)
|
rs2124634901
|
|
NM_004484.4(GPC3):c.19A>C (p.Thr7Pro)
|
rs773144223
|
|
NM_004484.4(GPC3):c.19A>T (p.Thr7Ser)
|
|
|
NM_004484.4(GPC3):c.204G>T (p.Lys68Asn)
|
rs61754632
|
|
NM_004484.4(GPC3):c.205G>T (p.Gly69Cys)
|
rs2124634887
|
|
NM_004484.4(GPC3):c.209C>T (p.Pro70Leu)
|
|
|
NM_004484.4(GPC3):c.220T>G (p.Ser74Ala)
|
rs1556359373
|
|
NM_004484.4(GPC3):c.227A>G (p.Lys76Arg)
|
|
|
NM_004484.4(GPC3):c.236A>G (p.Glu79Gly)
|
rs2076400695
|
|
NM_004484.4(GPC3):c.23C>T (p.Ala8Val)
|
rs1322259717
|
|
NM_004484.4(GPC3):c.248T>G (p.Leu83Arg)
|
|
|
NM_004484.4(GPC3):c.257G>T (p.Arg86Leu)
|
|
|
NM_004484.4(GPC3):c.265A>G (p.Met89Val)
|
rs1569458698
|
|
NM_004484.4(GPC3):c.265A>T (p.Met89Leu)
|
rs1569458698
|
|
NM_004484.4(GPC3):c.268G>A (p.Glu90Lys)
|
rs866063769
|
|
NM_004484.4(GPC3):c.27C>G (p.Cys9Trp)
|
|
|
NM_004484.4(GPC3):c.281A>G (p.Gln94Arg)
|
|
|
NM_004484.4(GPC3):c.287C>T (p.Ala96Val)
|
|
|
NM_004484.4(GPC3):c.289A>G (p.Ser97Gly)
|
rs2124634767
|
|
NM_004484.4(GPC3):c.290G>A (p.Ser97Asn)
|
|
|
NM_004484.4(GPC3):c.290G>C (p.Ser97Thr)
|
rs2076400276
|
|
NM_004484.4(GPC3):c.301A>C (p.Lys101Gln)
|
rs766042778
|
|
NM_004484.4(GPC3):c.305T>C (p.Phe102Ser)
|
rs1569458691
|
|
NM_004484.4(GPC3):c.310A>C (p.Ile104Leu)
|
|
|
NM_004484.4(GPC3):c.317A>C (p.Gln106Pro)
|
|
|
NM_004484.4(GPC3):c.326C>A (p.Ala109Glu)
|
rs761660909
|
|
NM_004484.4(GPC3):c.329T>C (p.Val110Ala)
|
rs2076399979
|
|
NM_004484.4(GPC3):c.337+5G>A
|
rs2076399944
|
|
NM_004484.4(GPC3):c.341C>A (p.Ala114Asp)
|
rs2071703691
|
|
NM_004484.4(GPC3):c.341C>G (p.Ala114Gly)
|
|
|
NM_004484.4(GPC3):c.343T>C (p.Phe115Leu)
|
|
|
NM_004484.4(GPC3):c.34G>A (p.Val12Met)
|
rs748152935
|
|
NM_004484.4(GPC3):c.351T>G (p.Ile117Met)
|
rs1603240797
|
|
NM_004484.4(GPC3):c.352GTT[1] (p.Val119del)
|
|
|
NM_004484.4(GPC3):c.353T>C (p.Val118Ala)
|
rs2124480956
|
|
NM_004484.4(GPC3):c.355G>T (p.Val119Phe)
|
rs1060502171
|
|
NM_004484.4(GPC3):c.37G>C (p.Ala13Pro)
|
rs2124655865
|
|
NM_004484.4(GPC3):c.380A>T (p.Asn127Ile)
|
rs2124480910
|
|
NM_004484.4(GPC3):c.381T>A (p.Asn127Lys)
|
rs2124480908
|
|
NM_004484.4(GPC3):c.382G>A (p.Ala128Thr)
|
|
|
NM_004484.4(GPC3):c.383C>A (p.Ala128Asp)
|
|
|
NM_004484.4(GPC3):c.385A>T (p.Met129Leu)
|
rs1004380086
|
|
NM_004484.4(GPC3):c.386T>C (p.Met129Thr)
|
|
|
NM_004484.4(GPC3):c.388T>A (p.Phe130Ile)
|
rs2071702654
|
|
NM_004484.4(GPC3):c.395A>G (p.Asn132Ser)
|
rs2124480870
|
|
NM_004484.4(GPC3):c.396C>A (p.Asn132Lys)
|
rs2124480866
|
|
NM_004484.4(GPC3):c.413C>T (p.Thr138Ile)
|
|
|
NM_004484.4(GPC3):c.416C>T (p.Pro139Leu)
|
|
|
NM_004484.4(GPC3):c.41T>C (p.Met14Thr)
|
|
|
NM_004484.4(GPC3):c.421G>T (p.Ala141Ser)
|
rs1360346581
|
|
NM_004484.4(GPC3):c.422C>A (p.Ala141Asp)
|
rs2124480829
|
|
NM_004484.4(GPC3):c.43C>A (p.Leu15Met)
|
rs1174879539
|
|
NM_004484.4(GPC3):c.451G>A (p.Asp151Asn)
|
rs2124480809
|
|
NM_004484.4(GPC3):c.452A>G (p.Asp151Gly)
|
rs2071701855
|
|
NM_004484.4(GPC3):c.455T>C (p.Val152Ala)
|
|
|
NM_004484.4(GPC3):c.458C>T (p.Ser153Phe)
|
rs1310073855
|
|
NM_004484.4(GPC3):c.460C>G (p.Leu154Val)
|
|
|
NM_004484.4(GPC3):c.46C>T (p.Leu16Phe)
|
rs2124655846
|
|
NM_004484.4(GPC3):c.472G>C (p.Gly158Arg)
|
rs2124480744
|
|
NM_004484.4(GPC3):c.473G>A (p.Gly158Asp)
|
rs2124480739
|
|
NM_004484.4(GPC3):c.479A>G (p.Asp160Gly)
|
|
|
NM_004484.4(GPC3):c.485A>T (p.Asn162Ile)
|
|
|
NM_004484.4(GPC3):c.491A>G (p.Asp164Gly)
|
rs1569426363
|
|
NM_004484.4(GPC3):c.492T>G (p.Asp164Glu)
|
|
|
NM_004484.4(GPC3):c.493G>A (p.Asp165Asn)
|
rs2124480689
|
|
NM_004484.4(GPC3):c.493G>C (p.Asp165His)
|
rs2124480689
|
|
NM_004484.4(GPC3):c.497T>C (p.Met166Thr)
|
rs2071700722
|
|
NM_004484.4(GPC3):c.49A>T (p.Ser17Cys)
|
rs2076563807
|
|
NM_004484.4(GPC3):c.500T>C (p.Val167Ala)
|
rs2071700646
|
|
NM_004484.4(GPC3):c.502A>G (p.Asn168Asp)
|
rs2071700573
|
|
NM_004484.4(GPC3):c.505G>A (p.Glu169Lys)
|
rs2071700502
|
|
NM_004484.4(GPC3):c.513T>G (p.Phe171Leu)
|
|
|
NM_004484.4(GPC3):c.518G>A (p.Ser173Asn)
|
rs2071700052
|
|
NM_004484.4(GPC3):c.520C>A (p.Leu174Met)
|
rs1603240710
|
|
NM_004484.4(GPC3):c.520C>G (p.Leu174Val)
|
rs1603240710
|
|
NM_004484.4(GPC3):c.535T>G (p.Tyr179Asp)
|
|
|
NM_004484.4(GPC3):c.539C>T (p.Thr180Ile)
|
|
|
NM_004484.4(GPC3):c.53T>C (p.Leu18Ser)
|
rs1011652636
|
|
NM_004484.4(GPC3):c.53T>G (p.Leu18Trp)
|
rs1011652636
|
|
NM_004484.4(GPC3):c.545T>C (p.Leu182Pro)
|
|
|
NM_004484.4(GPC3):c.562C>G (p.Pro188Ala)
|
rs2071699046
|
|
NM_004484.4(GPC3):c.565G>A (p.Asp189Asn)
|
rs900143355
|
|
NM_004484.4(GPC3):c.565G>C (p.Asp189His)
|
rs900143355
|
|
NM_004484.4(GPC3):c.565G>T (p.Asp189Tyr)
|
rs900143355
|
|
NM_004484.4(GPC3):c.567T>G (p.Asp189Glu)
|
rs2124480565
|
|
NM_004484.4(GPC3):c.571G>A (p.Ala191Thr)
|
rs1603240684
|
|
NM_004484.4(GPC3):c.576G>C (p.Leu192Phe)
|
rs2071698705
|
|
NM_004484.4(GPC3):c.583A>G (p.Asn195Asp)
|
rs2071698474
|
|
NM_004484.4(GPC3):c.592C>T (p.Leu198Phe)
|
rs2124480498
|
|
NM_004484.4(GPC3):c.593T>C (p.Leu198Pro)
|
|
|
NM_004484.4(GPC3):c.602C>A (p.Ala201Glu)
|
rs201344338
|
|
NM_004484.4(GPC3):c.602C>T (p.Ala201Val)
|
rs201344338
|
|
NM_004484.4(GPC3):c.605G>C (p.Arg202Thr)
|
|
|
NM_004484.4(GPC3):c.612C>A (p.Asp204Glu)
|
rs2071697475
|
|
NM_004484.4(GPC3):c.61C>A (p.Pro21Thr)
|
rs2076563698
|
|
NM_004484.4(GPC3):c.634C>T (p.Pro212Ser)
|
|
|
NM_004484.4(GPC3):c.643A>G (p.Ile215Val)
|
|
|
NM_004484.4(GPC3):c.644T>C (p.Ile215Thr)
|
|
|
NM_004484.4(GPC3):c.646A>G (p.Met216Val)
|
rs1556297755
|
|
NM_004484.4(GPC3):c.648G>A (p.Met216Ile)
|
|
|
NM_004484.4(GPC3):c.650C>T (p.Thr217Ile)
|
rs2124480389
|
|
NM_004484.4(GPC3):c.652C>A (p.Gln218Lys)
|
|
|
NM_004484.4(GPC3):c.658T>C (p.Ser220Pro)
|
|
|
NM_004484.4(GPC3):c.671A>G (p.Gln224Arg)
|
|
|
NM_004484.4(GPC3):c.674T>G (p.Val225Gly)
|
|
|
NM_004484.4(GPC3):c.67C>G (p.Gln23Glu)
|
|
|
NM_004484.4(GPC3):c.682A>G (p.Ile228Val)
|
|
|
NM_004484.4(GPC3):c.682A>T (p.Ile228Phe)
|
rs774682860
|
|
NM_004484.4(GPC3):c.68A>G (p.Gln23Arg)
|
rs866488565
|
|
NM_004484.4(GPC3):c.691C>G (p.Gln231Glu)
|
|
|
NM_004484.4(GPC3):c.695C>T (p.Ala232Val)
|
rs1206002281
|
|
NM_004484.4(GPC3):c.697C>G (p.Leu233Val)
|
|
|
NM_004484.4(GPC3):c.701A>G (p.Asn234Ser)
|
|
|
NM_004484.4(GPC3):c.710T>C (p.Ile237Thr)
|
|
|
NM_004484.4(GPC3):c.715G>A (p.Val239Met)
|
|
|
NM_004484.4(GPC3):c.719T>A (p.Ile240Asn)
|
|
|
NM_004484.4(GPC3):c.71C>T (p.Ala24Val)
|
rs1569462740
|
|
NM_004484.4(GPC3):c.722A>G (p.Asn241Ser)
|
rs1603240573
|
|
NM_004484.4(GPC3):c.737T>C (p.Leu246Pro)
|
rs2071694723
|
|
NM_004484.4(GPC3):c.743T>C (p.Phe248Ser)
|
|
|
NM_004484.4(GPC3):c.746G>A (p.Ser249Asn)
|
rs2124480231
|
|
NM_004484.4(GPC3):c.752A>T (p.Asp251Val)
|
|
|
NM_004484.4(GPC3):c.755G>T (p.Cys252Phe)
|
rs2071694353
|
|
NM_004484.4(GPC3):c.757G>A (p.Gly253Ser)
|
rs2124480212
|
|
NM_004484.4(GPC3):c.75G>T (p.Gln25His)
|
rs2076563500
|
|
NM_004484.4(GPC3):c.769A>T (p.Thr257Ser)
|
|
|
NM_004484.4(GPC3):c.76C>T (p.Pro26Ser)
|
rs1569462736
|
|
NM_004484.4(GPC3):c.773G>A (p.Arg258Lys)
|
|
|
NM_004484.4(GPC3):c.779G>C (p.Trp260Ser)
|
|
|
NM_004484.4(GPC3):c.785G>A (p.Cys262Tyr)
|
rs2071693746
|
|
NM_004484.4(GPC3):c.788C>G (p.Ser263Cys)
|
rs1060502170
|
|
NM_004484.4(GPC3):c.78_83del (p.Pro30_Pro31del)
|
rs2124655769
|
|
NM_004484.4(GPC3):c.78_86dup (p.Pro29_Pro31dup)
|
rs2076563342
|
|
NM_004484.4(GPC3):c.790T>A (p.Tyr264Asn)
|
|
|
NM_004484.4(GPC3):c.79CCG[3] (p.Pro30_Pro31del)
|
rs749104500
|
|
NM_004484.4(GPC3):c.79CCG[4] (p.Pro31del)
|
|
|
NM_004484.4(GPC3):c.79CCG[7] (p.Pro31_Asp32insProPro)
|
|
|
NM_004484.4(GPC3):c.7G>C (p.Gly3Arg)
|
|
|
NM_004484.4(GPC3):c.80C>T (p.Pro27Leu)
|
rs1556367809
|
|
NM_004484.4(GPC3):c.811G>T (p.Val271Phe)
|
|
|
NM_004484.4(GPC3):c.823G>A (p.Gly275Ser)
|
rs2124480115
|
|
NM_004484.4(GPC3):c.832T>C (p.Cys278Arg)
|
rs1556297671
|
|
NM_004484.4(GPC3):c.833G>A (p.Cys278Tyr)
|
rs2071692820
|
|
NM_004484.4(GPC3):c.838G>A (p.Val280Met)
|
rs1556297668
|
|
NM_004484.4(GPC3):c.839T>A (p.Val280Glu)
|
rs764111452
|
|
NM_004484.4(GPC3):c.839T>C (p.Val280Ala)
|
|
|
NM_004484.4(GPC3):c.83C>T (p.Pro28Leu)
|
|
|
NM_004484.4(GPC3):c.840G>A (p.Val280=)
|
rs2071692419
|
|
NM_004484.4(GPC3):c.850G>A (p.Gly284Ser)
|
rs2071692255
|
|
NM_004484.4(GPC3):c.851G>C (p.Gly284Ala)
|
rs2071692187
|
|
NM_004484.4(GPC3):c.862G>A (p.Gly288Ser)
|
rs2124480046
|
|
NM_004484.4(GPC3):c.869T>C (p.Val290Ala)
|
rs1244073847
|
|
NM_004484.4(GPC3):c.86C>T (p.Pro29Leu)
|
|
|
NM_004484.4(GPC3):c.876T>G (p.Ile292Met)
|
rs61754633
|
|
NM_004484.4(GPC3):c.880A>G (p.Lys294Glu)
|
rs1294158180
|
|
NM_004484.4(GPC3):c.882G>T (p.Lys294Asn)
|
|
|
NM_004484.4(GPC3):c.88C>T (p.Pro30Ser)
|
|
|
NM_004484.4(GPC3):c.890G>A (p.Arg297Lys)
|
rs2071690867
|
|
NM_004484.4(GPC3):c.892G>C (p.Glu298Gln)
|
rs2124479949
|
|
NM_004484.4(GPC3):c.895T>C (p.Tyr299His)
|
|
|
NM_004484.4(GPC3):c.896A>C (p.Tyr299Ser)
|
|
|
NM_004484.4(GPC3):c.896A>G (p.Tyr299Cys)
|
rs2071690786
|
|
NM_004484.4(GPC3):c.901C>A (p.Leu301Met)
|
|
|
NM_004484.4(GPC3):c.907C>G (p.Leu303Val)
|
rs2071690519
|
|
NM_004484.4(GPC3):c.90_91insACG (p.Pro30_Pro31insThr)
|
rs1210386432
|
|
NM_004484.4(GPC3):c.913G>A (p.Glu305Lys)
|
rs903266102
|
|
NM_004484.4(GPC3):c.914A>C (p.Glu305Ala)
|
|
|
NM_004484.4(GPC3):c.919G>T (p.Val307Leu)
|
|
|
NM_004484.4(GPC3):c.923A>G (p.Asn308Ser)
|
|
|
NM_004484.4(GPC3):c.925G>A (p.Gly309Ser)
|
|
|
NM_004484.4(GPC3):c.92C>T (p.Pro31Leu)
|
rs1602581126
|
|
NM_004484.4(GPC3):c.937A>G (p.Ile313Val)
|
|
|
NM_004484.4(GPC3):c.938T>A (p.Ile313Asn)
|
|
|
NM_004484.4(GPC3):c.940T>A (p.Tyr314Asn)
|
rs2124479870
|
|
NM_004484.4(GPC3):c.941A>G (p.Tyr314Cys)
|
rs1569426081
|
|
NM_004484.4(GPC3):c.943G>T (p.Asp315Tyr)
|
rs2124479854
|
|
NM_004484.4(GPC3):c.945C>G (p.Asp315Glu)
|
rs1027587308
|
|
NM_004484.4(GPC3):c.94G>A (p.Asp32Asn)
|
|
|
NM_004484.4(GPC3):c.964G>C (p.Gly322Arg)
|
|
|
NM_004484.4(GPC3):c.976A>T (p.Thr326Ser)
|
|
|
NM_004484.4(GPC3):c.977C>T (p.Thr326Ile)
|
rs900270133
|
|
NM_004484.4(GPC3):c.97G>A (p.Ala33Thr)
|
|
|
NM_004484.4(GPC3):c.97G>T (p.Ala33Ser)
|
rs2124655722
|
|
NM_004484.4(GPC3):c.989C>T (p.Ser330Phe)
|
|
|
NM_004484.4(GPC3):c.98C>T (p.Ala33Val)
|
rs2076563148
|
|
NM_004484.4(GPC3):c.997T>G (p.Tyr333Asp)
|
|
|
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
|
|
|
NM_005612.5(REST):c.1367A>G (p.Asp456Gly)
|
|
|
NM_005612.5(REST):c.1583A>G (p.His528Arg)
|
|
|
NM_005612.5(REST):c.1701G>C (p.Glu567Asp)
|
|
|
NM_005612.5(REST):c.1881G>T (p.Gln627His)
|
rs1720922537
|
|
NM_005612.5(REST):c.1882G>A (p.Val628Met)
|
|
|
NM_005762.3(TRIM28):c.1101+8_1101+9dup
|
|
|
NM_005762.3(TRIM28):c.1610C>T (p.Ala537Val)
|
|
|
NM_005762.3(TRIM28):c.161G>T (p.Gly54Val)
|
|
|
NM_005762.3(TRIM28):c.2060C>G (p.Ala687Gly)
|
|
|
NM_005762.3(TRIM28):c.2300G>A (p.Arg767His)
|
|
|
NM_005762.3(TRIM28):c.2394G>T (p.Glu798Asp)
|
|
|
NM_005762.3(TRIM28):c.83G>T (p.Gly28Val)
|
|
|
NM_006087.4(TUBB4A):c.571C>T (p.Gln191Ter)
|
rs1376427129
|
|
NM_016169.3(SUFU):c.-189C>T
|
rs1589969363
|
|
NM_016169.3(SUFU):c.-202C>T
|
rs1222242003
|
|
NM_016169.4(SUFU):c.*1104C>T
|
rs886046657
|
|
NM_016169.4(SUFU):c.*131C>G
|
rs886046654
|
|
NM_016169.4(SUFU):c.*1389C>T
|
rs886046658
|
|
NM_016169.4(SUFU):c.*138C>T
|
rs2063826618
|
|
NM_016169.4(SUFU):c.*1690A>G
|
rs955282121
|
|
NM_016169.4(SUFU):c.*1720C>G
|
rs536068954
|
|
NM_016169.4(SUFU):c.*1785C>T
|
rs1047091410
|
|
NM_016169.4(SUFU):c.*1889C>T
|
rs139020703
|
|
NM_016169.4(SUFU):c.*2479C>T
|
rs2063847339
|
|
NM_016169.4(SUFU):c.*2553T>C
|
rs886046662
|
|
NM_016169.4(SUFU):c.*2657T>C
|
rs2063848688
|
|
NM_016169.4(SUFU):c.*2757G>A
|
rs758662176
|
|
NM_016169.4(SUFU):c.*3110C>T
|
rs141940845
|
|
NM_016169.4(SUFU):c.*3239C>G
|
rs538132960
|
|
NM_016169.4(SUFU):c.*3239_*3241del
|
rs767259911
|
|
NM_016169.4(SUFU):c.*352C>G
|
rs139725961
|
|
NM_016169.4(SUFU):c.-103C>A
|
rs886046653
|
|
NM_016169.4(SUFU):c.-163A>G
|
rs886046652
|
|
NM_016169.4(SUFU):c.-181A>G
|
rs867202826
|
|
NM_016169.4(SUFU):c.-81C>A
|
rs546107381
|
|
NM_016169.4(SUFU):c.-81C>T
|
rs546107381
|
|
NM_016169.4(SUFU):c.1001G>C (p.Gly334Ala)
|
|
|
NM_016169.4(SUFU):c.1004T>C (p.Leu335Pro)
|
rs2063496437
|
|
NM_016169.4(SUFU):c.1009C>T (p.His337Tyr)
|
|
|
NM_016169.4(SUFU):c.1012G>A (p.Asp338Asn)
|
rs145082320
|
|
NM_016169.4(SUFU):c.1012G>C (p.Asp338His)
|
|
|
NM_016169.4(SUFU):c.1012G>T (p.Asp338Tyr)
|
rs145082320
|
|
NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro)
|
rs369910221
|
|
NM_016169.4(SUFU):c.1018G>A (p.Ala340Thr)
|
|
|
NM_016169.4(SUFU):c.1021C>G (p.Pro341Ala)
|
rs2063496822
|
|
NM_016169.4(SUFU):c.1022C>G (p.Pro341Arg)
|
|
|
NM_016169.4(SUFU):c.1025G>T (p.Ser342Ile)
|
|
|
NM_016169.4(SUFU):c.1026C>A (p.Ser342Arg)
|
|
|
NM_016169.4(SUFU):c.1028G>C (p.Arg343Pro)
|
|
|
NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu)
|
rs79299301
|
|
NM_016169.4(SUFU):c.1031A>G (p.Lys344Arg)
|
|
|
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly)
|
rs1590082122
|
|
NM_016169.4(SUFU):c.1037G>T (p.Ser346Ile)
|
|
|
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
|
|
|
NM_016169.4(SUFU):c.1042G>A (p.Glu348Lys)
|
rs1447671524
|
|
NM_016169.4(SUFU):c.1046G>C (p.Ser349Thr)
|
rs1419645738
|
|
NM_016169.4(SUFU):c.1048G>A (p.Asp350Asn)
|
|
|
NM_016169.4(SUFU):c.104A>G (p.His35Arg)
|
rs2062292023
|
|
NM_016169.4(SUFU):c.1055C>G (p.Ser352Cys)
|
|
|
NM_016169.4(SUFU):c.1057A>T (p.Thr353Ser)
|
rs1043574191
|
|
NM_016169.4(SUFU):c.1060G>A (p.Ala354Thr)
|
rs1554854570
|
|
NM_016169.4(SUFU):c.1061C>G (p.Ala354Gly)
|
rs1554854572
|
|
NM_016169.4(SUFU):c.1063A>G (p.Ile355Val)
|
rs1564706425
|
|
NM_016169.4(SUFU):c.1063A>T (p.Ile355Phe)
|
rs1564706425
|
|
NM_016169.4(SUFU):c.1068T>G (p.Ile356Met)
|
rs2063673886
|
|
NM_016169.4(SUFU):c.1069C>T (p.Pro357Ser)
|
|
|
NM_016169.4(SUFU):c.106G>A (p.Ala36Thr)
|
|
|
NM_016169.4(SUFU):c.1070_1084del (p.Pro357_Ile361del)
|
|
|
NM_016169.4(SUFU):c.1073A>C (p.His358Pro)
|
|
|
NM_016169.4(SUFU):c.1079T>G (p.Leu360Arg)
|
|
|
NM_016169.4(SUFU):c.1083T>G (p.Ile361Met)
|
rs1590082200
|
|
NM_016169.4(SUFU):c.1085G>T (p.Arg362Leu)
|
rs755390277
|
|
NM_016169.4(SUFU):c.1087A>G (p.Thr363Ala)
|
rs2135930147
|
|
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp)
|
rs1305395503
|
|
NM_016169.4(SUFU):c.1094A>C (p.Gln365Pro)
|
|
|
NM_016169.4(SUFU):c.1097T>C (p.Leu366Pro)
|
rs2063674539
|
|
NM_016169.4(SUFU):c.1104C>G (p.Ser368Arg)
|
rs746580970
|
|
NM_016169.4(SUFU):c.1105G>C (p.Val369Leu)
|
rs149449923
|
|
NM_016169.4(SUFU):c.1106T>C (p.Val369Ala)
|
rs1554854584
|
|
NM_016169.4(SUFU):c.1120A>G (p.Asn374Asp)
|
rs2063674917
|
|
NM_016169.4(SUFU):c.1121A>C (p.Asn374Thr)
|
rs1265012285
|
|
NM_016169.4(SUFU):c.1124A>G (p.Gln375Arg)
|
|
|
NM_016169.4(SUFU):c.1127A>T (p.Glu376Val)
|
|
|
NM_016169.4(SUFU):c.1132G>A (p.Gly378Arg)
|
rs1256959985
|
|
NM_016169.4(SUFU):c.1133G>C (p.Gly378Ala)
|
|
|
NM_016169.4(SUFU):c.1135G>C (p.Ala379Pro)
|
|
|
NM_016169.4(SUFU):c.1139T>A (p.Leu380His)
|
rs2063675268
|
|
NM_016169.4(SUFU):c.113A>G (p.Tyr38Cys)
|
rs2062292284
|
|
NM_016169.4(SUFU):c.1141A>G (p.Ile381Val)
|
|
|
NM_016169.4(SUFU):c.1142T>C (p.Ile381Thr)
|
rs2135930458
|
|
NM_016169.4(SUFU):c.1145C>G (p.Pro382Arg)
|
|
|
NM_016169.4(SUFU):c.1145C>T (p.Pro382Leu)
|
rs1401882800
|
|
NM_016169.4(SUFU):c.1147C>T (p.Leu383Phe)
|
|
|
NM_016169.4(SUFU):c.1150T>C (p.Cys384Arg)
|
rs375419295
|
|
NM_016169.4(SUFU):c.1157G>C (p.Arg386Thr)
|
|
|
NM_016169.4(SUFU):c.1158-3C>T
|
rs936830108
|
|
NM_016169.4(SUFU):c.1159G>A (p.Gly387Ser)
|
|
|
NM_016169.4(SUFU):c.1160G>A (p.Gly387Asp)
|
|
|
NM_016169.4(SUFU):c.116G>T (p.Gly39Val)
|
rs756123785
|
|
NM_016169.4(SUFU):c.1171C>T (p.His391Tyr)
|
|
|
NM_016169.4(SUFU):c.1172A>G (p.His391Arg)
|
rs2063696863
|
|
NM_016169.4(SUFU):c.1174G>C (p.Gly392Arg)
|
rs2063696912
|
|
NM_016169.4(SUFU):c.1174_1175dup (p.Arg393fs)
|
rs1564707343
|
|
NM_016169.4(SUFU):c.1178G>A (p.Arg393Gln)
|
|
|
NM_016169.4(SUFU):c.1180C>G (p.His394Asp)
|
|
|
NM_016169.4(SUFU):c.1183T>G (p.Phe395Val)
|
|
|
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn)
|
rs1421345157
|
|
NM_016169.4(SUFU):c.1196G>C (p.Ser399Thr)
|
rs1421345157
|
|
NM_016169.4(SUFU):c.119A>G (p.Glu40Gly)
|
|
|
NM_016169.4(SUFU):c.11T>G (p.Leu4Arg)
|
|
|
NM_016169.4(SUFU):c.1202C>T (p.Thr401Ile)
|
rs776868943
|
|
NM_016169.4(SUFU):c.1205G>A (p.Gly402Asp)
|
rs2063697237
|
|
NM_016169.4(SUFU):c.1210A>G (p.Met404Val)
|
rs1312190379
|
|
NM_016169.4(SUFU):c.1211T>A (p.Met404Lys)
|
rs2063697367
|
|
NM_016169.4(SUFU):c.1211T>C (p.Met404Thr)
|
|
|
NM_016169.4(SUFU):c.1214C>T (p.Ala405Val)
|
|
|
NM_016169.4(SUFU):c.1216A>G (p.Ile406Val)
|
rs1060501116
|
|
NM_016169.4(SUFU):c.1220C>T (p.Thr407Met)
|
|
|
NM_016169.4(SUFU):c.1229C>G (p.Ser410Cys)
|
|
|
NM_016169.4(SUFU):c.1231A>G (p.Thr411Ala)
|
|
|
NM_016169.4(SUFU):c.1233G>A (p.Thr411=)
|
|
|
NM_016169.4(SUFU):c.1235G>A (p.Gly412Glu)
|
rs1590084228
|
|
NM_016169.4(SUFU):c.1244G>A (p.Gly415Asp)
|
rs2135935261
|
|
NM_016169.4(SUFU):c.1246G>A (p.Ala416Thr)
|
rs779490664
|
|
NM_016169.4(SUFU):c.1246G>T (p.Ala416Ser)
|
rs779490664
|
|
NM_016169.4(SUFU):c.1247C>A (p.Ala416Asp)
|
rs2063698018
|
|
NM_016169.4(SUFU):c.1252G>C (p.Ala418Pro)
|
rs2063698088
|
|
NM_016169.4(SUFU):c.1252G>T (p.Ala418Ser)
|
|
|
NM_016169.4(SUFU):c.1263_1264delinsTT (p.Glu421_His422delinsAspTyr)
|
|
|
NM_016169.4(SUFU):c.1268C>G (p.Pro423Arg)
|
rs1590084270
|
|
NM_016169.4(SUFU):c.1268C>T (p.Pro423Leu)
|
|
|
NM_016169.4(SUFU):c.1274C>T (p.Ala425Val)
|
rs1427876079
|
|
NM_016169.4(SUFU):c.1276G>A (p.Ala426Thr)
|
rs1189930416
|
|
NM_016169.4(SUFU):c.1277C>T (p.Ala426Val)
|
rs772895878
|
|
NM_016169.4(SUFU):c.1291T>G (p.Leu431Val)
|
rs141950577
|
|
NM_016169.4(SUFU):c.1295A>C (p.Gln432Pro)
|
|
|
NM_016169.4(SUFU):c.1296+10C>T
|
|
|
NM_016169.4(SUFU):c.1296+3G>A
|
rs2135935586
|
|
NM_016169.4(SUFU):c.1296+4_1296+459del
|
rs2063698594
|
|
NM_016169.4(SUFU):c.1296+5G>A
|
|
|
NM_016169.4(SUFU):c.130C>T (p.Leu44Phe)
|
|
|
NM_016169.4(SUFU):c.1312del (p.Glu438fs)
|
rs2135954200
|
|
NM_016169.4(SUFU):c.1314G>C (p.Glu438Asp)
|
|
|
NM_016169.4(SUFU):c.1316T>C (p.Phe439Ser)
|
rs778975698
|
|
NM_016169.4(SUFU):c.1318G>A (p.Val440Ile)
|
|
|
NM_016169.4(SUFU):c.1319T>C (p.Val440Ala)
|
rs2135954241
|
|
NM_016169.4(SUFU):c.1322A>T (p.Glu441Val)
|
rs2063793808
|
|
NM_016169.4(SUFU):c.1329G>T (p.Met443Ile)
|
rs773805575
|
|
NM_016169.4(SUFU):c.1332G>C (p.Leu444Phe)
|
rs2135954289
|
|
NM_016169.4(SUFU):c.1336G>A (p.Asp446Asn)
|
rs2135954318
|
|
NM_016169.4(SUFU):c.1339T>G (p.Leu447Val)
|
rs2135954327
|
|
NM_016169.4(SUFU):c.1342G>A (p.Glu448Lys)
|
rs2135954335
|
|
NM_016169.4(SUFU):c.1347T>G (p.Asp449Glu)
|
rs1564711403
|
|
NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe)
|
rs774611157
|
|
NM_016169.4(SUFU):c.1350G>C (p.Leu450Phe)
|
rs2135954349
|
|
NM_016169.4(SUFU):c.1351A>G (p.Thr451Ala)
|
|
|
NM_016169.4(SUFU):c.1355C>A (p.Ser452Tyr)
|
rs2135954353
|
|
NM_016169.4(SUFU):c.1360G>C (p.Glu454Gln)
|
|
|
NM_016169.4(SUFU):c.1365+18_1365+19delinsCC
|
|
|
NM_016169.4(SUFU):c.1365+6C>T
|
|
|
NM_016169.4(SUFU):c.136C>A (p.Pro46Thr)
|
|
|
NM_016169.4(SUFU):c.136C>T (p.Pro46Ser)
|
|
|
NM_016169.4(SUFU):c.1370A>G (p.Lys457Arg)
|
rs947720538
|
|
NM_016169.4(SUFU):c.1372C>A (p.Leu458Ile)
|
|
|
NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe)
|
|
|
NM_016169.4(SUFU):c.1375C>T (p.Pro459Ser)
|
rs2063824067
|
|
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
|
|
|
NM_016169.4(SUFU):c.137C>T (p.Pro46Leu)
|
rs2135598488
|
|
NM_016169.4(SUFU):c.1387A>G (p.Ser463Gly)
|
|
|
NM_016169.4(SUFU):c.139G>A (p.Asp47Asn)
|
rs2062292973
|
|
NM_016169.4(SUFU):c.1415C>T (p.Ser472Phe)
|
rs1590094982
|
|
NM_016169.4(SUFU):c.1429G>T (p.Val477Leu)
|
|
|
NM_016169.4(SUFU):c.1438G>A (p.Asp480Asn)
|
rs1318484622
|
|
NM_016169.4(SUFU):c.1442_1451del (p.Ser481fs)
|
rs1324912821
|
|
NM_016169.4(SUFU):c.1444C>T (p.Pro482Ser)
|
|
|
NM_016169.4(SUFU):c.1445C>G (p.Pro482Arg)
|
rs765358771
|
|
NM_016169.4(SUFU):c.1448T>C (p.Leu483Pro)
|
rs1060501115
|
|
NM_016169.4(SUFU):c.144G>T (p.Gln48His)
|
|
|
NM_016169.4(SUFU):c.1450C>T (p.His484Tyr)
|
rs2135959641
|
|
NM_016169.4(SUFU):c.1450_*18del (p.His484_Ter485del)
|
rs2063824850
|
|
NM_016169.4(SUFU):c.1453T>G (p.Ter485Glu)
|
|
|
NM_016169.4(SUFU):c.145C>G (p.Pro49Ala)
|
|
|
NM_016169.4(SUFU):c.151C>T (p.Pro51Ser)
|
rs2062293449
|
|
NM_016169.4(SUFU):c.154_155delinsAC (p.Leu52Thr)
|
rs2135598653
|
|
NM_016169.4(SUFU):c.155T>A (p.Leu52His)
|
rs2135598661
|
|
NM_016169.4(SUFU):c.158A>G (p.Gln53Arg)
|
rs1589970174
|
|
NM_016169.4(SUFU):c.160G>A (p.Val54Ile)
|
rs2135598727
|
|
NM_016169.4(SUFU):c.16C>T (p.Pro6Ser)
|
rs2062288467
|
|
NM_016169.4(SUFU):c.171C>G (p.Ile57Met)
|
rs1283661186
|
|
NM_016169.4(SUFU):c.172G>A (p.Val58Ile)
|
|
|
NM_016169.4(SUFU):c.172G>C (p.Val58Leu)
|
rs766897671
|
|
NM_016169.4(SUFU):c.173T>A (p.Val58Asp)
|
rs2135598841
|
|
NM_016169.4(SUFU):c.179A>C (p.Tyr60Ser)
|
|
|
NM_016169.4(SUFU):c.17C>G (p.Pro6Arg)
|
rs2135597134
|
|
NM_016169.4(SUFU):c.182+3A>G
|
rs1589970228
|
|
NM_016169.4(SUFU):c.182+4T>C
|
rs1268149623
|
|
NM_016169.4(SUFU):c.182+6C>T
|
rs889720087
|
|
NM_016169.4(SUFU):c.19A>G (p.Ser7Gly)
|
rs2062288510
|
|
NM_016169.4(SUFU):c.200C>G (p.Pro67Arg)
|
rs1564656995
|
|
NM_016169.4(SUFU):c.202T>G (p.Leu68Val)
|
rs1589975244
|
|
NM_016169.4(SUFU):c.209A>G (p.Tyr70Cys)
|
|
|
NM_016169.4(SUFU):c.215G>A (p.Ser72Asn)
|
rs1589975269
|
|
NM_016169.4(SUFU):c.217A>T (p.Met73Leu)
|
rs1183694060
|
|
NM_016169.4(SUFU):c.21C>A (p.Ser7Arg)
|
rs2135597167
|
|
NM_016169.4(SUFU):c.21C>G (p.Ser7Arg)
|
|
|
NM_016169.4(SUFU):c.227A>C (p.Asn76Thr)
|
|
|
NM_016169.4(SUFU):c.229G>A (p.Val77Met)
|
|
|
NM_016169.4(SUFU):c.22G>T (p.Gly8Cys)
|
rs769696737
|
|
NM_016169.4(SUFU):c.230T>C (p.Val77Ala)
|
|
|
NM_016169.4(SUFU):c.233G>A (p.Gly78Glu)
|
rs2062368710
|
|
NM_016169.4(SUFU):c.236G>C (p.Ser79Thr)
|
rs2135620312
|
|
NM_016169.4(SUFU):c.238C>A (p.Pro80Thr)
|
|
|
NM_016169.4(SUFU):c.242C>A (p.Ser81Tyr)
|
|
|
NM_016169.4(SUFU):c.242C>G (p.Ser81Cys)
|
rs2062368817
|
|
NM_016169.4(SUFU):c.245C>T (p.Ala82Val)
|
|
|
NM_016169.4(SUFU):c.247A>C (p.Asn83His)
|
rs2135620366
|
|
NM_016169.4(SUFU):c.247A>G (p.Asn83Asp)
|
rs2135620366
|
|
NM_016169.4(SUFU):c.253C>G (p.Pro85Ala)
|
rs1187640052
|
|
NM_016169.4(SUFU):c.253C>T (p.Pro85Ser)
|
rs1187640052
|
|
NM_016169.4(SUFU):c.254C>T (p.Pro85Leu)
|
|
|
NM_016169.4(SUFU):c.271A>G (p.Ile91Val)
|
rs759030707
|
|
NM_016169.4(SUFU):c.272T>A (p.Ile91Asn)
|
rs781318691
|
|
NM_016169.4(SUFU):c.273C>G (p.Ile91Met)
|
rs2062369595
|
|
NM_016169.4(SUFU):c.274A>G (p.Ser92Gly)
|
rs2062369652
|
|
NM_016169.4(SUFU):c.276C>G (p.Ser92Arg)
|
rs1060501106
|
|
NM_016169.4(SUFU):c.279C>A (p.Phe93Leu)
|
rs770218907
|
|
NM_016169.4(SUFU):c.280G>A (p.Gly94Ser)
|
|
|
NM_016169.4(SUFU):c.287G>C (p.Ser96Thr)
|
rs2135620752
|
|
NM_016169.4(SUFU):c.28C>G (p.Pro10Ala)
|
|
|
NM_016169.4(SUFU):c.28C>T (p.Pro10Ser)
|
rs975936230
|
|
NM_016169.4(SUFU):c.295T>C (p.Tyr99His)
|
rs2062370032
|
|
NM_016169.4(SUFU):c.305A>G (p.Asn102Ser)
|
rs146181245
|
|
NM_016169.4(SUFU):c.306C>G (p.Asn102Lys)
|
|
|
NM_016169.4(SUFU):c.316G>C (p.Glu106Gln)
|
rs1040654062
|
|
NM_016169.4(SUFU):c.317+5G>T
|
rs2062370553
|
|
NM_016169.4(SUFU):c.317A>G (p.Glu106Gly)
|
|
|
NM_016169.4(SUFU):c.318-3C>T
|
|
|
NM_016169.4(SUFU):c.31G>A (p.Gly11Ser)
|
|
|
NM_016169.4(SUFU):c.320T>G (p.Phe107Cys)
|
|
|
NM_016169.4(SUFU):c.32G>A (p.Gly11Asp)
|
rs1227379293
|
|
NM_016169.4(SUFU):c.333T>G (p.Asp111Glu)
|
rs2062895698
|
|
NM_016169.4(SUFU):c.334G>A (p.Gly112Arg)
|
|
|
NM_016169.4(SUFU):c.341G>A (p.Ser114Asn)
|
rs781192849
|
|
NM_016169.4(SUFU):c.347T>G (p.Phe116Cys)
|
|
|
NM_016169.4(SUFU):c.34C>T (p.Pro12Ser)
|
|
|
NM_016169.4(SUFU):c.350G>C (p.Gly117Ala)
|
rs1564676348
|
|
NM_016169.4(SUFU):c.352T>C (p.Phe118Leu)
|
rs2062895967
|
|
NM_016169.4(SUFU):c.358T>G (p.Leu120Val)
|
rs1415947980
|
|
NM_016169.4(SUFU):c.366T>G (p.Phe122Leu)
|
rs1216193400
|
|
NM_016169.4(SUFU):c.375G>T (p.Lys125Asn)
|
|
|
NM_016169.4(SUFU):c.379G>A (p.Glu127Lys)
|
rs1280071055
|
|
NM_016169.4(SUFU):c.383C>A (p.Thr128Asn)
|
|
|
NM_016169.4(SUFU):c.385G>A (p.Gly129Arg)
|
|
|
NM_016169.4(SUFU):c.388G>C (p.Glu130Gln)
|
|
|
NM_016169.4(SUFU):c.397C>T (p.Pro133Ser)
|
rs2135743325
|
|
NM_016169.4(SUFU):c.398C>T (p.Pro133Leu)
|
|
|
NM_016169.4(SUFU):c.406T>C (p.Trp136Arg)
|
|
|
NM_016169.4(SUFU):c.409C>T (p.Pro137Ser)
|
rs1564676427
|
|
NM_016169.4(SUFU):c.413C>T (p.Ala138Val)
|
|
|
NM_016169.4(SUFU):c.420A>T (p.Leu140Phe)
|
rs1060501111
|
|
NM_016169.4(SUFU):c.425A>G (p.Gln142Arg)
|
rs2135743469
|
|
NM_016169.4(SUFU):c.429C>T (p.Gly143=)
|
rs2062896951
|
|
NM_016169.4(SUFU):c.42_65del (p.10PGPTAPPA[1])
|
rs2062289607
|
|
NM_016169.4(SUFU):c.430T>G (p.Leu144Val)
|
rs2135743501
|
|
NM_016169.4(SUFU):c.43C>G (p.Pro15Ala)
|
rs761921681
|
|
NM_016169.4(SUFU):c.442G>A (p.Val148Met)
|
rs763813479
|
|
NM_016169.4(SUFU):c.442G>T (p.Val148Leu)
|
rs763813479
|
|
NM_016169.4(SUFU):c.450G>C (p.Gln150His)
|
|
|
NM_016169.4(SUFU):c.454+4_454+5del
|
|
|
NM_016169.4(SUFU):c.454+6A>T
|
rs2062897274
|
|
NM_016169.4(SUFU):c.454+6_454+8del
|
rs2135743623
|
|
NM_016169.4(SUFU):c.455-10T>A
|
|
|
NM_016169.4(SUFU):c.460A>G (p.Thr154Ala)
|
|
|
NM_016169.4(SUFU):c.460A>T (p.Thr154Ser)
|
|
|
NM_016169.4(SUFU):c.464T>G (p.Phe155Cys)
|
rs2063414949
|
|
NM_016169.4(SUFU):c.466T>C (p.Cys156Arg)
|
rs1554852266
|
|
NM_016169.4(SUFU):c.469A>G (p.Ser157Gly)
|
rs2063415039
|
|
NM_016169.4(SUFU):c.469A>T (p.Ser157Cys)
|
|
|
NM_016169.4(SUFU):c.46C>A (p.Pro16Thr)
|
rs978312925
|
|
NM_016169.4(SUFU):c.46C>G (p.Pro16Ala)
|
|
|
NM_016169.4(SUFU):c.479A>G (p.His160Arg)
|
|
|
NM_016169.4(SUFU):c.47C>T (p.Pro16Leu)
|
|
|
NM_016169.4(SUFU):c.490C>T (p.His164Tyr)
|
rs2063415325
|
|
NM_016169.4(SUFU):c.494G>C (p.Ser165Thr)
|
|
|
NM_016169.4(SUFU):c.509G>C (p.Ser170Thr)
|
|
|
NM_016169.4(SUFU):c.518G>T (p.Arg173Ile)
|
rs587778697
|
|
NM_016169.4(SUFU):c.521T>A (p.Ile174Asn)
|
rs2063415661
|
|
NM_016169.4(SUFU):c.521T>C (p.Ile174Thr)
|
rs2063415661
|
|
NM_016169.4(SUFU):c.52C>A (p.Pro18Thr)
|
|
|
NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1])
|
rs1426839991
|
|
NM_016169.4(SUFU):c.531G>C (p.Met177Ile)
|
|
|
NM_016169.4(SUFU):c.53C>T (p.Pro18Leu)
|
|
|
NM_016169.4(SUFU):c.541G>A (p.Glu181Lys)
|
|
|
NM_016169.4(SUFU):c.544G>A (p.Asp182Asn)
|
rs2135867046
|
|
NM_016169.4(SUFU):c.550C>G (p.Gln184Glu)
|
rs2063416132
|
|
NM_016169.4(SUFU):c.551A>C (p.Gln184Pro)
|
rs2063416174
|
|
NM_016169.4(SUFU):c.553A>T (p.Met185Leu)
|
|
|
NM_016169.4(SUFU):c.55_69dup (p.Pro23_Pro24insGlyProThrAlaPro)
|
|
|
NM_016169.4(SUFU):c.563T>C (p.Val188Ala)
|
rs2063416415
|
|
NM_016169.4(SUFU):c.56G>A (p.Gly19Asp)
|
rs1589969913
|
|
NM_016169.4(SUFU):c.581T>C (p.Val194Ala)
|
|
|
NM_016169.4(SUFU):c.586A>C (p.Thr196Pro)
|
rs2135867363
|
|
NM_016169.4(SUFU):c.586A>G (p.Thr196Ala)
|
rs2135867363
|
|
NM_016169.4(SUFU):c.587C>T (p.Thr196Ile)
|
rs2063416715
|
|
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
|
|
|
NM_016169.4(SUFU):c.592C>G (p.Leu198Val)
|
|
|
NM_016169.4(SUFU):c.597+15G>A
|
|
|
NM_016169.4(SUFU):c.597G>A (p.Gln199=)
|
rs1060501112
|
|
NM_016169.4(SUFU):c.59C>T (p.Pro20Leu)
|
|
|
NM_016169.4(SUFU):c.600C>G (p.Ile200Met)
|
rs149513330
|
|
NM_016169.4(SUFU):c.614C>T (p.Thr205Ile)
|
rs1478836560
|
|
NM_016169.4(SUFU):c.616G>A (p.Glu206Lys)
|
rs1590062858
|
|
NM_016169.4(SUFU):c.618A>C (p.Glu206Asp)
|
|
|
NM_016169.4(SUFU):c.618A>T (p.Glu206Asp)
|
|
|
NM_016169.4(SUFU):c.626A>C (p.His209Pro)
|
rs1590062872
|
|
NM_016169.4(SUFU):c.62C>T (p.Thr21Ile)
|
|
|
NM_016169.4(SUFU):c.635A>G (p.Gln212Arg)
|
rs2063428727
|
|
NM_016169.4(SUFU):c.645C>G (p.Asn215Lys)
|
rs551772204
|
|
NM_016169.4(SUFU):c.646G>A (p.Gly216Arg)
|
rs2063429038
|
|
NM_016169.4(SUFU):c.649C>A (p.Gln217Lys)
|
|
|
NM_016169.4(SUFU):c.65C>A (p.Ala22Asp)
|
rs761240106
|
|
NM_016169.4(SUFU):c.65C>T (p.Ala22Val)
|
rs761240106
|
|
NM_016169.4(SUFU):c.661G>A (p.Glu221Lys)
|
|
|
NM_016169.4(SUFU):c.663G>T (p.Glu221Asp)
|
|
|
NM_016169.4(SUFU):c.664C>G (p.Leu222Val)
|
rs765345575
|
|
NM_016169.4(SUFU):c.668T>C (p.Leu223Pro)
|
|
|
NM_016169.4(SUFU):c.670C>T (p.Arg224Trp)
|
rs1590062935
|
|
NM_016169.4(SUFU):c.673A>T (p.Thr225Ser)
|
rs2063429642
|
|
NM_016169.4(SUFU):c.674C>G (p.Thr225Arg)
|
rs1432427138
|
|
NM_016169.4(SUFU):c.677T>C (p.Val226Ala)
|
rs895181370
|
|
NM_016169.4(SUFU):c.67C>G (p.Pro23Ala)
|
rs766666529
|
|
NM_016169.4(SUFU):c.683+7A>T
|
|
|
NM_016169.4(SUFU):c.686C>G (p.Ala229Gly)
|
rs1590063307
|
|
NM_016169.4(SUFU):c.686C>T (p.Ala229Val)
|
rs1590063307
|
|
NM_016169.4(SUFU):c.68C>G (p.Pro23Arg)
|
|
|
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala)
|
rs1060501110
|
|
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser)
|
rs1060501110
|
|
NM_016169.4(SUFU):c.695C>T (p.Pro232Leu)
|
rs1240436102
|
|
NM_016169.4(SUFU):c.696C>G (p.Pro232=)
|
rs2063434189
|
|
NM_016169.4(SUFU):c.697T>C (p.Trp233Arg)
|
rs1590063333
|
|
NM_016169.4(SUFU):c.706A>G (p.Thr236Ala)
|
|
|
NM_016169.4(SUFU):c.70C>A (p.Pro24Thr)
|
|
|
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala)
|
rs1219870817
|
|
NM_016169.4(SUFU):c.70C>T (p.Pro24Ser)
|
rs1219870817
|
|
NM_016169.4(SUFU):c.712A>G (p.Met238Val)
|
rs2063434374
|
|
NM_016169.4(SUFU):c.713T>C (p.Met238Thr)
|
rs2063434396
|
|
NM_016169.4(SUFU):c.714G>A (p.Met238Ile)
|
|
|
NM_016169.4(SUFU):c.715C>G (p.Arg239Gly)
|
rs369465986
|
|
NM_016169.4(SUFU):c.715C>T (p.Arg239Trp)
|
rs369465986
|
|
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln)
|
rs1403040084
|
|
NM_016169.4(SUFU):c.71C>A (p.Pro24Gln)
|
rs754218597
|
|
NM_016169.4(SUFU):c.71C>T (p.Pro24Leu)
|
|
|
NM_016169.4(SUFU):c.727A>T (p.Thr243Ser)
|
rs762294261
|
|
NM_016169.4(SUFU):c.731T>C (p.Ile244Thr)
|
rs2063435042
|
|
NM_016169.4(SUFU):c.734T>C (p.Phe245Ser)
|
rs1303650670
|
|
NM_016169.4(SUFU):c.73G>A (p.Ala25Thr)
|
rs2135597901
|
|
NM_016169.4(SUFU):c.741C>G (p.Ile247Met)
|
rs2135872473
|
|
NM_016169.4(SUFU):c.742G>C (p.Asp248His)
|
rs1283509771
|
|
NM_016169.4(SUFU):c.743A>G (p.Asp248Gly)
|
rs2135872517
|
|
NM_016169.4(SUFU):c.748C>T (p.His250Tyr)
|
rs2135872528
|
|
NM_016169.4(SUFU):c.749A>G (p.His250Arg)
|
rs750808785
|
|
NM_016169.4(SUFU):c.74C>T (p.Ala25Val)
|
rs2062291323
|
|
NM_016169.4(SUFU):c.753_756+2dup
|
rs2063435496
|
|
NM_016169.4(SUFU):c.756+10G>T
|
|
|
NM_016169.4(SUFU):c.756A>C (p.Gln252His)
|
rs1317467424
|
|
NM_016169.4(SUFU):c.757-5A>G
|
rs1590065871
|
|
NM_016169.4(SUFU):c.757G>A (p.Glu253Lys)
|
|
|
NM_016169.4(SUFU):c.758A>G (p.Glu253Gly)
|
rs2135881068
|
|
NM_016169.4(SUFU):c.761G>C (p.Arg254Thr)
|
rs2135881076
|
|
NM_016169.4(SUFU):c.773G>C (p.Gly258Ala)
|
|
|
NM_016169.4(SUFU):c.775A>G (p.Ile259Val)
|
|
|
NM_016169.4(SUFU):c.777C>G (p.Ile259Met)
|
rs749533220
|
|
NM_016169.4(SUFU):c.778G>C (p.Glu260Gln)
|
rs775245784
|
|
NM_016169.4(SUFU):c.781A>C (p.Thr261Pro)
|
rs2063471103
|
|
NM_016169.4(SUFU):c.782C>T (p.Thr261Ile)
|
rs2135881195
|
|
NM_016169.4(SUFU):c.791C>G (p.Ser264Cys)
|
|
|
NM_016169.4(SUFU):c.793A>T (p.Asn265Tyr)
|
|
|
NM_016169.4(SUFU):c.79G>A (p.Ala27Thr)
|
rs2062291537
|
|
NM_016169.4(SUFU):c.803G>A (p.Gly268Asp)
|
|
|
NM_016169.4(SUFU):c.809G>A (p.Ser270Asn)
|
|
|
NM_016169.4(SUFU):c.80C>T (p.Ala27Val)
|
rs1664857380
|
|
NM_016169.4(SUFU):c.810T>G (p.Ser270Arg)
|
rs2063471312
|
|
NM_016169.4(SUFU):c.812C>A (p.Ala271Asp)
|
|
|
NM_016169.4(SUFU):c.815A>C (p.Lys272Thr)
|
|
|
NM_016169.4(SUFU):c.815A>G (p.Lys272Arg)
|
rs2063471403
|
|
NM_016169.4(SUFU):c.820G>A (p.Ala274Thr)
|
|
|
NM_016169.4(SUFU):c.826G>A (p.Asp276Asn)
|
|
|
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)
|
|
|
NM_016169.4(SUFU):c.827A>T (p.Asp276Val)
|
rs772598822
|
|
NM_016169.4(SUFU):c.82T>G (p.Ser28Ala)
|
|
|
NM_016169.4(SUFU):c.831C>A (p.Asp277Glu)
|
|
|
NM_016169.4(SUFU):c.836G>A (p.Ser279Asn)
|
rs1486885056
|
|
NM_016169.4(SUFU):c.837C>G (p.Ser279Arg)
|
rs1564698718
|
|
NM_016169.4(SUFU):c.841C>A (p.Pro281Thr)
|
rs2063471841
|
|
NM_016169.4(SUFU):c.841C>G (p.Pro281Ala)
|
|
|
NM_016169.4(SUFU):c.841C>T (p.Pro281Ser)
|
rs2063471841
|
|
NM_016169.4(SUFU):c.844C>G (p.Pro282Ala)
|
rs1215810497
|
|
NM_016169.4(SUFU):c.847G>A (p.Glu283Lys)
|
rs1554852789
|
|
NM_016169.4(SUFU):c.847G>C (p.Glu283Gln)
|
rs1554852789
|
|
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)
|
|
|
NM_016169.4(SUFU):c.852T>A (p.Asp284Glu)
|
|
|
NM_016169.4(SUFU):c.852_860dup (p.Asp285_Asp287dup)
|
rs2135881773
|
|
NM_016169.4(SUFU):c.853G>A (p.Asp285Asn)
|
|
|
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup)
|
rs1363458155
|
|
NM_016169.4(SUFU):c.855C>G (p.Asp285Glu)
|
rs200206997
|
|
NM_016169.4(SUFU):c.858G>C (p.Glu286Asp)
|
rs1007675139
|
|
NM_016169.4(SUFU):c.859G>A (p.Asp287Asn)
|
rs750436246
|
|
NM_016169.4(SUFU):c.862A>T (p.Ser288Cys)
|
rs2135881950
|
|
NM_016169.4(SUFU):c.865C>G (p.Arg289Gly)
|
rs755961394
|
|
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp)
|
rs755961394
|
|
NM_016169.4(SUFU):c.868A>G (p.Ser290Gly)
|
rs1406131774
|
|
NM_016169.4(SUFU):c.869G>A (p.Ser290Asn)
|
rs749461207
|
|
NM_016169.4(SUFU):c.86T>G (p.Leu29Arg)
|
rs2062291773
|
|
NM_016169.4(SUFU):c.872T>A (p.Ile291Asn)
|
|
|
NM_016169.4(SUFU):c.875G>A (p.Cys292Tyr)
|
rs193921097
|
|
NM_016169.4(SUFU):c.875G>T (p.Cys292Phe)
|
rs193921097
|
|
NM_016169.4(SUFU):c.877A>C (p.Ile293Leu)
|
|
|
NM_016169.4(SUFU):c.877A>G (p.Ile293Val)
|
rs574002050
|
|
NM_016169.4(SUFU):c.878T>A (p.Ile293Asn)
|
rs1487599100
|
|
NM_016169.4(SUFU):c.881G>A (p.Gly294Asp)
|
rs761234425
|
|
NM_016169.4(SUFU):c.883A>G (p.Thr295Ala)
|
|
|
NM_016169.4(SUFU):c.887A>G (p.Gln296Arg)
|
rs2135882221
|
|
NM_016169.4(SUFU):c.890C>G (p.Pro297Arg)
|
|
|
NM_016169.4(SUFU):c.890C>T (p.Pro297Leu)
|
rs1590066137
|
|
NM_016169.4(SUFU):c.892C>G (p.Arg298Gly)
|
|
|
NM_016169.4(SUFU):c.893G>A (p.Arg298Gln)
|
rs1197687313
|
|
NM_016169.4(SUFU):c.895C>G (p.Arg299Gly)
|
|
|
NM_016169.4(SUFU):c.8A>G (p.Glu3Gly)
|
rs757097388
|
|
NM_016169.4(SUFU):c.902C>G (p.Ser301Cys)
|
rs1554852823
|
|
NM_016169.4(SUFU):c.902C>T (p.Ser301Phe)
|
rs1554852823
|
|
NM_016169.4(SUFU):c.907A>G (p.Lys303Glu)
|
|
|
NM_016169.4(SUFU):c.910+4G>A
|
rs1060501104
|
|
NM_016169.4(SUFU):c.910+5G>A
|
rs2135882479
|
|
NM_016169.4(SUFU):c.910G>A (p.Asp304Asn)
|
|
|
NM_016169.4(SUFU):c.910G>T (p.Asp304Tyr)
|
|
|
NM_016169.4(SUFU):c.913A>G (p.Thr305Ala)
|
rs1590067989
|
|
NM_016169.4(SUFU):c.913A>T (p.Thr305Ser)
|
rs1590067989
|
|
NM_016169.4(SUFU):c.915A>G (p.Thr305=)
|
|
|
NM_016169.4(SUFU):c.91C>A (p.Pro31Thr)
|
rs1554840836
|
|
NM_016169.4(SUFU):c.91C>G (p.Pro31Ala)
|
rs1554840836
|
|
NM_016169.4(SUFU):c.91C>T (p.Pro31Ser)
|
rs1554840836
|
|
NM_016169.4(SUFU):c.924C>G (p.Ile308Met)
|
|
|
NM_016169.4(SUFU):c.928G>C (p.Glu310Gln)
|
rs376797758
|
|
NM_016169.4(SUFU):c.92C>T (p.Pro31Leu)
|
rs2135598089
|
|
NM_016169.4(SUFU):c.938G>A (p.Arg313Lys)
|
|
|
NM_016169.4(SUFU):c.941G>A (p.Arg314Lys)
|
rs369741612
|
|
NM_016169.4(SUFU):c.944G>A (p.Gly315Glu)
|
rs2135888649
|
|
NM_016169.4(SUFU):c.946C>T (p.Leu316Phe)
|
rs1554853004
|
|
NM_016169.4(SUFU):c.949_954del (p.Glu317_Ile318del)
|
rs2063495678
|
|
NM_016169.4(SUFU):c.956A>G (p.Asn319Ser)
|
rs1479527039
|
|
NM_016169.4(SUFU):c.959G>A (p.Ser320Asn)
|
rs753862598
|
|
NM_016169.4(SUFU):c.959G>C (p.Ser320Thr)
|
rs753862598
|
|
NM_016169.4(SUFU):c.95C>T (p.Pro32Leu)
|
rs2135598107
|
|
NM_016169.4(SUFU):c.960C>A (p.Ser320Arg)
|
rs754716152
|
|
NM_016169.4(SUFU):c.964C>G (p.Pro322Ala)
|
|
|
NM_016169.4(SUFU):c.965C>A (p.Pro322His)
|
rs2135888788
|
|
NM_016169.4(SUFU):c.965C>T (p.Pro322Leu)
|
|
|
NM_016169.4(SUFU):c.970C>T (p.Leu324Phe)
|
rs2063495996
|
|
NM_016169.4(SUFU):c.974C>T (p.Pro325Leu)
|
rs2135888846
|
|
NM_016169.4(SUFU):c.983A>G (p.Asn328Ser)
|
rs2135888901
|
|
NM_016169.4(SUFU):c.985C>G (p.Pro329Ala)
|
rs2063496120
|
|
NM_016169.4(SUFU):c.985C>T (p.Pro329Ser)
|
|
|
NM_016169.4(SUFU):c.989A>G (p.Gln330Arg)
|
rs1060501107
|
|
NM_016169.4(SUFU):c.997A>G (p.Asn333Asp)
|
|
|
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn)
|
rs1245071059
|
|
NM_024426.6(WT1):c.*100A>G
|
rs1851738551
|
|
NM_024426.6(WT1):c.*1021GT[14]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[15]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[18]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[19]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1021GT[20]
|
rs58549495
|
|
NM_024426.6(WT1):c.*1058G>T
|
rs886048211
|
|
NM_024426.6(WT1):c.*1225T>C
|
rs886048210
|
|
NM_024426.6(WT1):c.*269G>T
|
rs886048225
|
|
NM_024426.6(WT1):c.*2G>A
|
|
|
NM_024426.6(WT1):c.*354G>T
|
rs886048224
|
|
NM_024426.6(WT1):c.*366C>A
|
rs886048223
|
|
NM_024426.6(WT1):c.*393G>T
|
rs886048222
|
|
NM_024426.6(WT1):c.*3G>A
|
|
|
NM_024426.6(WT1):c.*5T>C
|
rs765743928
|
|
NM_024426.6(WT1):c.*629T>C
|
rs1851723085
|
|
NM_024426.6(WT1):c.*685G>T
|
rs886048218
|
|
NM_024426.6(WT1):c.*707C>A
|
rs886048217
|
|
NM_024426.6(WT1):c.*741G>T
|
rs886048216
|
|
NM_024426.6(WT1):c.*768A>C
|
rs886048215
|
|
NM_024426.6(WT1):c.*841C>A
|
rs886048213
|
|
NM_024426.6(WT1):c.-102C>A
|
rs886048240
|
|
NM_024426.6(WT1):c.-114T>A
|
rs886048242
|
|
NM_024426.6(WT1):c.-135G>A
|
rs886048243
|
|
NM_024426.6(WT1):c.-31G>T
|
rs886048234
|
|
NM_024426.6(WT1):c.-82A>C
|
rs886048236
|
|
NM_024426.6(WT1):c.-86T>C
|
rs886048237
|
|
NM_024426.6(WT1):c.-87C>T
|
rs1395440150
|
|
NM_024426.6(WT1):c.-90T>C
|
rs886048238
|
|
NM_024426.6(WT1):c.-94G>C
|
rs886048239
|
|
NM_024426.6(WT1):c.1000A>G (p.Thr334Ala)
|
|
|
NM_024426.6(WT1):c.1004A>G (p.Glu335Gly)
|
rs2133032382
|
|
NM_024426.6(WT1):c.1012A>C (p.Ser338Arg)
|
rs1852674776
|
|
NM_024426.6(WT1):c.1012A>G (p.Ser338Gly)
|
rs1852674776
|
|
NM_024426.6(WT1):c.1015A>G (p.Asn339Asp)
|
rs1852674511
|
|
NM_024426.6(WT1):c.1016+6T>C
|
|
|
NM_024426.6(WT1):c.1016A>G (p.Asn339Ser)
|
|
|
NM_024426.6(WT1):c.1017-1G>A
|
rs868047507
|
|
NM_024426.6(WT1):c.1017-2A>G
|
|
|
NM_024426.6(WT1):c.1017-3C>T
|
rs1554940545
|
|
NM_024426.6(WT1):c.1017C>G (p.Asn339Lys)
|
|
|
NM_024426.6(WT1):c.1020_1021delinsAC (p.His340_Ser341delinsGlnArg)
|
rs1564975891
|
|
NM_024426.6(WT1):c.1022G>A (p.Ser341Asn)
|
rs371021920
|
|
NM_024426.6(WT1):c.1028G>A (p.Gly343Glu)
|
rs2132959011
|
|
NM_024426.6(WT1):c.1031A>G (p.Tyr344Cys)
|
rs1852103005
|
|
NM_024426.6(WT1):c.1031A>T (p.Tyr344Phe)
|
|
|
NM_024426.6(WT1):c.1035_1036delinsAT (p.Ser346Cys)
|
rs2132958801
|
|
NM_024426.6(WT1):c.1038C>G (p.Ser346Arg)
|
rs750018485
|
|
NM_024426.6(WT1):c.1039G>A (p.Asp347Asn)
|
rs267602851
|
|
NM_024426.6(WT1):c.1043A>G (p.Asn348Ser)
|
|
|
NM_024426.6(WT1):c.1049C>G (p.Thr350Arg)
|
|
|
NM_024426.6(WT1):c.1049C>T (p.Thr350Ile)
|
|
|
NM_024426.6(WT1):c.1051A>G (p.Thr351Ala)
|
rs2132958406
|
|
NM_024426.6(WT1):c.1052C>A (p.Thr351Lys)
|
|
|
NM_024426.6(WT1):c.1052C>T (p.Thr351Met)
|
rs761627098
|
|
NM_024426.6(WT1):c.1054C>G (p.Pro352Ala)
|
|
|
NM_024426.6(WT1):c.1057A>G (p.Ile353Val)
|
rs1554940527
|
|
NM_024426.6(WT1):c.105G>T (p.Gln35His)
|
|
|
NM_024426.6(WT1):c.1060C>T (p.Leu354Phe)
|
|
|
NM_024426.6(WT1):c.1067G>A (p.Gly356Glu)
|
rs760654956
|
|
NM_024426.6(WT1):c.1069G>A (p.Ala357Thr)
|
|
|
NM_024426.6(WT1):c.1070C>A (p.Ala357Asp)
|
|
|
NM_024426.6(WT1):c.1072C>G (p.Gln358Glu)
|
rs771117558
|
|
NM_024426.6(WT1):c.1073A>G (p.Gln358Arg)
|
rs1554940518
|
|
NM_024426.6(WT1):c.1078A>G (p.Arg360Gly)
|
rs1852099254
|
|
NM_024426.6(WT1):c.107A>T (p.Gln36Leu)
|
|
|
NM_024426.6(WT1):c.1082T>C (p.Ile361Thr)
|
rs2132957665
|
|
NM_024426.6(WT1):c.1086C>A (p.His362Gln)
|
|
|
NM_024426.6(WT1):c.1086C>G (p.His362Gln)
|
rs1421853816
|
|
NM_024426.6(WT1):c.1087A>T (p.Thr363Ser)
|
|
|
NM_024426.6(WT1):c.1088C>A (p.Thr363Lys)
|
|
|
NM_024426.6(WT1):c.1088C>G (p.Thr363Arg)
|
rs1852098454
|
|
NM_024426.6(WT1):c.1088C>T (p.Thr363Met)
|
|
|
NM_024426.6(WT1):c.1089_1090delinsAA (p.His364Asn)
|
rs2132957418
|
|
NM_024426.6(WT1):c.1093G>A (p.Gly365Ser)
|
|
|
NM_024426.6(WT1):c.1093G>C (p.Gly365Arg)
|
|
|
NM_024426.6(WT1):c.1096G>A (p.Val366Ile)
|
|
|
NM_024426.6(WT1):c.1108A>T (p.Ile370Phe)
|
|
|
NM_024426.6(WT1):c.1109T>G (p.Ile370Ser)
|
rs1852096499
|
|
NM_024426.6(WT1):c.110G>A (p.Gly37Glu)
|
|
|
NM_024426.6(WT1):c.110G>C (p.Gly37Ala)
|
rs1853477982
|
|
NM_024426.6(WT1):c.1112A>G (p.Gln371Arg)
|
rs1852096219
|
|
NM_024426.6(WT1):c.1113+3G>A
|
|
|
NM_024426.6(WT1):c.1113+5G>C
|
rs930795675
|
|
NM_024426.6(WT1):c.1114G>C (p.Asp372His)
|
|
|
NM_024426.6(WT1):c.1120C>G (p.Arg374Gly)
|
|
|
NM_024426.6(WT1):c.1121_1122delinsAG (p.Arg374Gln)
|
rs2132942126
|
|
NM_024426.6(WT1):c.1122_1123inv (p.Arg375Cys)
|
|
|
NM_024426.6(WT1):c.1122_1124delinsGTA (p.Arg375Tyr)
|
|
|
NM_024426.6(WT1):c.1124G>C (p.Arg375Pro)
|
rs554416372
|
|
NM_024426.6(WT1):c.1124G>T (p.Arg375Leu)
|
rs554416372
|
|
NM_024426.6(WT1):c.1126G>A (p.Val376Met)
|
|
|
NM_024426.6(WT1):c.1127T>C (p.Val376Ala)
|
rs1180529775
|
|
NM_024426.6(WT1):c.1129C>T (p.Pro377Ser)
|
|
|
NM_024426.6(WT1):c.112G>A (p.Val38Ile)
|
|
|
NM_024426.6(WT1):c.112G>T (p.Val38Phe)
|
rs1229949294
|
|
NM_024426.6(WT1):c.1130C>A (p.Pro377His)
|
rs1590339111
|
|
NM_024426.6(WT1):c.1139C>A (p.Ala380Asp)
|
rs2132941654
|
|
NM_024426.6(WT1):c.1139C>T (p.Ala380Val)
|
rs2132941654
|
|
NM_024426.6(WT1):c.1141C>G (p.Pro381Ala)
|
|
|
NM_024426.6(WT1):c.1141C>T (p.Pro381Ser)
|
|
|
NM_024426.6(WT1):c.1143_1151dup (p.Val384_Arg385insThrLeuVal)
|
|
|
NM_024426.6(WT1):c.1144A>G (p.Thr382Ala)
|
rs1851973152
|
|
NM_024426.6(WT1):c.1145C>T (p.Thr382Ile)
|
rs2132941453
|
|
NM_024426.6(WT1):c.1154G>C (p.Arg385Pro)
|
rs147241955
|
|
NM_024426.6(WT1):c.1154G>T (p.Arg385Leu)
|
rs147241955
|
|
NM_024426.6(WT1):c.1157C>T (p.Ser386Leu)
|
|
|
NM_024426.6(WT1):c.1159G>A (p.Ala387Thr)
|
rs1412336417
|
|
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro)
|
rs992930804
|
|
NM_024426.6(WT1):c.1163C>G (p.Ser388Cys)
|
|
|
NM_024426.6(WT1):c.1168A>G (p.Thr390Ala)
|
|
|
NM_024426.6(WT1):c.116G>C (p.Arg39Pro)
|
|
|
NM_024426.6(WT1):c.1173T>A (p.Ser391Arg)
|
|
|
NM_024426.6(WT1):c.1173T>G (p.Ser391Arg)
|
|
|
NM_024426.6(WT1):c.1174G>A (p.Glu392Lys)
|
rs1851970123
|
|
NM_024426.6(WT1):c.1180C>T (p.Arg394Cys)
|
rs1564972874
|
|
NM_024426.6(WT1):c.1183C>A (p.Pro395Thr)
|
rs267602850
|
|
NM_024426.6(WT1):c.1184C>T (p.Pro395Leu)
|
rs1851969544
|
|
NM_024426.6(WT1):c.1188C>A (p.Phe396Leu)
|
rs200539928
|
|
NM_024426.6(WT1):c.1189A>G (p.Met397Val)
|
|
|
NM_024426.6(WT1):c.118G>C (p.Asp40His)
|
rs1853477193
|
|
NM_024426.6(WT1):c.118del (p.Asp40fs)
|
rs2133107122
|
|
NM_024426.6(WT1):c.1190T>C (p.Met397Thr)
|
rs2132940385
|
|
NM_024426.6(WT1):c.1190T>G (p.Met397Arg)
|
|
|
NM_024426.6(WT1):c.1191G>A (p.Met397Ile)
|
rs2132940348
|
|
NM_024426.6(WT1):c.1192T>A (p.Cys398Ser)
|
rs2132940315
|
|
NM_024426.6(WT1):c.1196C>G (p.Ala399Gly)
|
rs1590338798
|
|
NM_024426.6(WT1):c.1196C>T (p.Ala399Val)
|
rs1590338798
|
|
NM_024426.6(WT1):c.119A>C (p.Asp40Ala)
|
|
|
NM_024426.6(WT1):c.1200C>T (p.Tyr400=)
|
rs886048227
|
|
NM_024426.6(WT1):c.1202C>A (p.Pro401Gln)
|
|
|
NM_024426.6(WT1):c.1211A>G (p.Asn404Ser)
|
rs748864758
|
|
NM_024426.6(WT1):c.1217G>A (p.Arg406Lys)
|
rs1851967853
|
|
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser)
|
rs1554939793
|
|
NM_024426.6(WT1):c.1219T>C (p.Tyr407His)
|
|
|
NM_024426.6(WT1):c.121C>G (p.Pro41Ala)
|
rs926668379
|
|
NM_024426.6(WT1):c.1244T>G (p.Met415Arg)
|
|
|
NM_024426.6(WT1):c.1249A>G (p.Ser417Gly)
|
|
|
NM_024426.6(WT1):c.1261A>G (p.Thr421Ala)
|
|
|
NM_024426.6(WT1):c.1261A>T (p.Thr421Ser)
|
|
|
NM_024426.6(WT1):c.1262C>G (p.Thr421Ser)
|
|
|
NM_024426.6(WT1):c.1264+3A>G
|
|
|
NM_024426.6(WT1):c.1264+6T>A
|
rs1366602349
|
|
NM_024426.6(WT1):c.1265-16_1265-15del
|
rs1447574915
|
|
NM_024426.6(WT1):c.1265-18A>G
|
|
|
NM_024426.6(WT1):c.1274C>G (p.Pro425Arg)
|
rs2132921474
|
|
NM_024426.6(WT1):c.127G>A (p.Gly43Ser)
|
|
|
NM_024426.6(WT1):c.127G>C (p.Gly43Arg)
|
|
|
NM_024426.6(WT1):c.127G>T (p.Gly43Cys)
|
rs1166553415
|
|
NM_024426.6(WT1):c.1280A>C (p.Gln427Pro)
|
rs1358408901
|
|
NM_024426.6(WT1):c.1285G>A (p.Asp429Asn)
|
|
|
NM_024426.6(WT1):c.1289T>G (p.Phe430Cys)
|
|
|
NM_024426.6(WT1):c.128G>T (p.Gly43Val)
|
|
|
NM_024426.6(WT1):c.1307G>A (p.Arg436Lys)
|
rs2132920559
|
|
NM_024426.6(WT1):c.1313C>G (p.Ser438Cys)
|
rs2132920415
|
|
NM_024426.6(WT1):c.1331A>G (p.Lys444Arg)
|
rs1851852482
|
|
NM_024426.6(WT1):c.133T>G (p.Trp45Gly)
|
rs1186470250
|
|
NM_024426.6(WT1):c.1341A>C (p.Gln447His)
|
rs772822466
|
|
NM_024426.6(WT1):c.1344G>C (p.Arg448Ser)
|
|
|
NM_024426.6(WT1):c.1345A>G (p.Arg449Gly)
|
|
|
NM_024426.6(WT1):c.1351A>T (p.Thr451Ser)
|
|
|
NM_024426.6(WT1):c.136G>A (p.Ala46Thr)
|
rs886048233
|
|
NM_024426.6(WT1):c.136G>T (p.Ala46Ser)
|
rs886048233
|
|
NM_024426.6(WT1):c.1373G>C (p.Cys458Ser)
|
rs2132915129
|
|
NM_024426.6(WT1):c.1376A>G (p.Lys459Arg)
|
rs1851834162
|
|
NM_024426.6(WT1):c.1379C>A (p.Thr460Asn)
|
|
|
NM_024426.6(WT1):c.1379C>T (p.Thr460Ile)
|
|
|
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)
|
rs1037084691
|
|
NM_024426.6(WT1):c.1408C>T (p.His470Tyr)
|
rs1554939072
|
|
NM_024426.6(WT1):c.1424C>T (p.Thr475Ile)
|
|
|
NM_024426.6(WT1):c.1433A>T (p.His478Leu)
|
|
|
NM_024426.6(WT1):c.143T>C (p.Leu48Ser)
|
rs1565002394
|
|
NM_024426.6(WT1):c.143T>G (p.Leu48Ter)
|
|
|
NM_024426.6(WT1):c.1447+3G>A
|
rs2132913499
|
|
NM_024426.6(WT1):c.1448-13A>G
|
|
|
NM_024426.6(WT1):c.1448-3C>A
|
rs904330511
|
|
NM_024426.6(WT1):c.1448-3C>T
|
|
|
NM_024426.6(WT1):c.1448-6C>G
|
|
|
NM_024426.6(WT1):c.145G>A (p.Gly49Ser)
|
|
|
NM_024426.6(WT1):c.1463G>A (p.Ser488Asn)
|
rs267602849
|
|
NM_024426.6(WT1):c.1468C>T (p.Arg490Trp)
|
rs1315549918
|
|
NM_024426.6(WT1):c.1474C>T (p.Pro492Ser)
|
rs761360324
|
|
NM_024426.6(WT1):c.1477A>C (p.Ser493Arg)
|
rs776256676
|
|
NM_024426.6(WT1):c.1478G>A (p.Ser493Asn)
|
rs763551837
|
|
NM_024426.6(WT1):c.1485G>T (p.Gln495His)
|
|
|
NM_024426.6(WT1):c.1496C>G (p.Ala499Gly)
|
rs2132898997
|
|
NM_024426.6(WT1):c.1505A>G (p.Asp502Gly)
|
|
|
NM_024426.6(WT1):c.150del (p.Ala51fs)
|
rs2133106747
|
|
NM_024426.6(WT1):c.1510T>G (p.Leu504Val)
|
|
|
NM_024426.6(WT1):c.1513G>A (p.Val505Ile)
|
|
|
NM_024426.6(WT1):c.1516C>T (p.Arg506Cys)
|
|
|
NM_024426.6(WT1):c.1517G>T (p.Arg506Leu)
|
rs1851744303
|
|
NM_024426.6(WT1):c.1519del (p.His507fs)
|
|
|
NM_024426.6(WT1):c.151G>A (p.Ala51Thr)
|
rs1853473868
|
|
NM_024426.6(WT1):c.151_152delinsAA (p.Ala51Asn)
|
rs2133106703
|
|
NM_024426.6(WT1):c.1524C>A (p.His508Gln)
|
rs1451629862
|
|
NM_024426.6(WT1):c.1526A>T (p.Asn509Ile)
|
rs2132898041
|
|
NM_024426.6(WT1):c.1528A>G (p.Met510Val)
|
rs1554938534
|
|
NM_024426.6(WT1):c.1529T>A (p.Met510Lys)
|
rs1851743827
|
|
NM_024426.6(WT1):c.152C>A (p.Ala51Asp)
|
|
|
NM_024426.6(WT1):c.1538G>C (p.Arg513Thr)
|
rs1363144688
|
|
NM_024426.6(WT1):c.1541A>C (p.Asn514Thr)
|
|
|
NM_024426.6(WT1):c.1541A>G (p.Asn514Ser)
|
rs1554938531
|
|
NM_024426.6(WT1):c.1541A>T (p.Asn514Ile)
|
rs1554938531
|
|
NM_024426.6(WT1):c.1545G>A (p.Met515Ile)
|
rs2132897547
|
|
NM_024426.6(WT1):c.1561G>C (p.Ala521Pro)
|
rs1851742668
|
|
NM_024426.6(WT1):c.1569A>G (p.Ter523Trp)
|
rs1851742229
|
|
NM_024426.6(WT1):c.161G>C (p.Ser54Thr)
|
|
|
NM_024426.6(WT1):c.162C>A (p.Ser54Arg)
|
rs776954184
|
|
NM_024426.6(WT1):c.163G>A (p.Ala55Thr)
|
|
|
NM_024426.6(WT1):c.163G>T (p.Ala55Ser)
|
|
|
NM_024426.6(WT1):c.164_165delinsTG (p.Ala55Val)
|
rs2133106545
|
|
NM_024426.6(WT1):c.166G>C (p.Glu56Gln)
|
|
|
NM_024426.6(WT1):c.169C>A (p.Arg57Ser)
|
rs961526551
|
|
NM_024426.6(WT1):c.169C>G (p.Arg57Gly)
|
rs961526551
|
|
NM_024426.6(WT1):c.16C>T (p.Leu6=)
|
|
|
NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)
|
|
|
NM_024426.6(WT1):c.170G>A (p.Arg57His)
|
rs1011628259
|
|
NM_024426.6(WT1):c.170G>T (p.Arg57Leu)
|
rs1011628259
|
|
NM_024426.6(WT1):c.172C>T (p.Leu58Phe)
|
rs1412425868
|
|
NM_024426.6(WT1):c.173T>G (p.Leu58Arg)
|
|
|
NM_024426.6(WT1):c.174C>G (p.Leu58=)
|
rs886048232
|
|
NM_024426.6(WT1):c.176A>G (p.Gln59Arg)
|
rs2133106426
|
|
NM_024426.6(WT1):c.177G>A (p.Gln59=)
|
rs1311704660
|
|
NM_024426.6(WT1):c.177G>C (p.Gln59His)
|
rs1311704660
|
|
NM_024426.6(WT1):c.17T>C (p.Leu6Pro)
|
|
|
NM_024426.6(WT1):c.181C>G (p.Arg61Gly)
|
|
|
NM_024426.6(WT1):c.181C>T (p.Arg61Trp)
|
|
|
NM_024426.6(WT1):c.181_182delinsTA (p.Arg61Ter)
|
|
|
NM_024426.6(WT1):c.182G>A (p.Arg61Gln)
|
|
|
NM_024426.6(WT1):c.182G>C (p.Arg61Pro)
|
|
|
NM_024426.6(WT1):c.185G>A (p.Arg62Lys)
|
rs1295712217
|
|
NM_024426.6(WT1):c.189C>A (p.Ser63Arg)
|
rs1215127008
|
|
NM_024426.6(WT1):c.191G>A (p.Arg64His)
|
rs1853471149
|
|
NM_024426.6(WT1):c.191G>T (p.Arg64Leu)
|
|
|
NM_024426.6(WT1):c.193G>T (p.Gly65Trp)
|
rs374404615
|
|
NM_024426.6(WT1):c.194G>A (p.Gly65Glu)
|
rs1853470727
|
|
NM_024426.6(WT1):c.196G>A (p.Ala66Thr)
|
rs1590410967
|
|
NM_024426.6(WT1):c.196del (p.Ala66fs)
|
|
|
NM_024426.6(WT1):c.197C>A (p.Ala66Glu)
|
rs1341675324
|
|
NM_024426.6(WT1):c.197C>T (p.Ala66Val)
|
|
|
NM_024426.6(WT1):c.19C>A (p.Gln7Lys)
|
rs2133108011
|
|
NM_024426.6(WT1):c.19C>T (p.Gln7Ter)
|
rs2133108011
|
|
NM_024426.6(WT1):c.200C>T (p.Ser67Phe)
|
rs1327516147
|
|
NM_024426.6(WT1):c.202G>C (p.Gly68Arg)
|
rs1353446740
|
|
NM_024426.6(WT1):c.203G>A (p.Gly68Glu)
|
rs1170323988
|
|
NM_024426.6(WT1):c.210G>C (p.Glu70Asp)
|
rs745506215
|
|
NM_024426.6(WT1):c.211C>T (p.Pro71Ser)
|
rs1392405207
|
|
NM_024426.6(WT1):c.215A>T (p.Gln72Leu)
|
rs2133106001
|
|
NM_024426.6(WT1):c.216G>C (p.Gln72His)
|
rs5030135
|
|
NM_024426.6(WT1):c.220A>G (p.Met74Val)
|
|
|
NM_024426.6(WT1):c.230A>T (p.Asp77Val)
|
|
|
NM_024426.6(WT1):c.232G>A (p.Val78Met)
|
rs1590410789
|
|
NM_024426.6(WT1):c.236G>A (p.Arg79Gln)
|
rs1853467176
|
|
NM_024426.6(WT1):c.238G>C (p.Asp80His)
|
|
|
NM_024426.6(WT1):c.239A>G (p.Asp80Gly)
|
|
|
NM_024426.6(WT1):c.23A>T (p.Asp8Val)
|
|
|
NM_024426.6(WT1):c.240C>G (p.Asp80Glu)
|
rs2133105820
|
|
NM_024426.6(WT1):c.241C>A (p.Leu81Met)
|
rs777617460
|
|
NM_024426.6(WT1):c.242T>G (p.Leu81Arg)
|
rs2133105795
|
|
NM_024426.6(WT1):c.244A>G (p.Asn82Asp)
|
|
|
NM_024426.6(WT1):c.246C>A (p.Asn82Lys)
|
|
|
NM_024426.6(WT1):c.246C>G (p.Asn82Lys)
|
|
|
NM_024426.6(WT1):c.247G>A (p.Ala83Thr)
|
|
|
NM_024426.6(WT1):c.247G>C (p.Ala83Pro)
|
rs886048231
|
|
NM_024426.6(WT1):c.247G>T (p.Ala83Ser)
|
rs886048231
|
|
NM_024426.6(WT1):c.247_248delinsCT (p.Ala83Leu)
|
|
|
NM_024426.6(WT1):c.24C>A (p.Asp8Glu)
|
rs1393437791
|
|
NM_024426.6(WT1):c.24C>G (p.Asp8Glu)
|
rs1393437791
|
|
NM_024426.6(WT1):c.254T>C (p.Leu85Pro)
|
|
|
NM_024426.6(WT1):c.257C>T (p.Pro86Leu)
|
|
|
NM_024426.6(WT1):c.25C>A (p.Pro9Thr)
|
rs1314273962
|
|
NM_024426.6(WT1):c.25C>G (p.Pro9Ala)
|
|
|
NM_024426.6(WT1):c.261_262delinsTT (p.Val88Phe)
|
|
|
NM_024426.6(WT1):c.262G>T (p.Val88Phe)
|
rs1410971862
|
|
NM_024426.6(WT1):c.263T>A (p.Val88Asp)
|
|
|
NM_024426.6(WT1):c.265C>A (p.Pro89Thr)
|
|
|
NM_024426.6(WT1):c.266C>G (p.Pro89Arg)
|
|
|
NM_024426.6(WT1):c.266C>T (p.Pro89Leu)
|
|
|
NM_024426.6(WT1):c.268T>C (p.Ser90Pro)
|
rs1590410623
|
|
NM_024426.6(WT1):c.269C>T (p.Ser90Phe)
|
rs1853464700
|
|
NM_024426.6(WT1):c.26C>G (p.Pro9Arg)
|
rs948132360
|
|
NM_024426.6(WT1):c.275G>A (p.Gly92Asp)
|
|
|
NM_024426.6(WT1):c.277GGC[3] (p.Gly96del)
|
rs770519620
|
|
NM_024426.6(WT1):c.277GGC[5] (p.Gly96dup)
|
rs770519620
|
|
NM_024426.6(WT1):c.278G>A (p.Gly93Asp)
|
rs1590410578
|
|
NM_024426.6(WT1):c.280G>A (p.Gly94Ser)
|
rs758512604
|
|
NM_024426.6(WT1):c.284G>A (p.Gly95Asp)
|
|
|
NM_024426.6(WT1):c.285C>T (p.Gly95=)
|
rs886048230
|
|
NM_024426.6(WT1):c.286G>T (p.Gly96Cys)
|
rs1060501254
|
|
NM_024426.6(WT1):c.287_288insGGA (p.Gly96_Cys97insAsp)
|
|
|
NM_024426.6(WT1):c.288_289insGGA (p.Gly96_Cys97insGly)
|
|
|
NM_024426.6(WT1):c.289T>C (p.Cys97Arg)
|
rs1383360383
|
|
NM_024426.6(WT1):c.28G>A (p.Ala10Thr)
|
|
|
NM_024426.6(WT1):c.28G>T (p.Ala10Ser)
|
rs1351753257
|
|
NM_024426.6(WT1):c.28_29delinsAT (p.Ala10Ile)
|
rs1554946803
|
|
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr)
|
rs1554946803
|
|
NM_024426.6(WT1):c.290G>C (p.Cys97Ser)
|
rs1853462998
|
|
NM_024426.6(WT1):c.293C>G (p.Ala98Gly)
|
rs1853462729
|
|
NM_024426.6(WT1):c.293C>T (p.Ala98Val)
|
rs1853462729
|
|
NM_024426.6(WT1):c.295C>G (p.Leu99Val)
|
|
|
NM_024426.6(WT1):c.296T>A (p.Leu99Gln)
|
rs1565001942
|
|
NM_024426.6(WT1):c.296T>C (p.Leu99Pro)
|
rs1565001942
|
|
NM_024426.6(WT1):c.298C>A (p.Pro100Thr)
|
rs567200038
|
|
NM_024426.6(WT1):c.298C>G (p.Pro100Ala)
|
rs567200038
|
|
NM_024426.6(WT1):c.298C>T (p.Pro100Ser)
|
rs567200038
|
|
NM_024426.6(WT1):c.299C>G (p.Pro100Arg)
|
|
|
NM_024426.6(WT1):c.29C>A (p.Ala10Asp)
|
rs997104313
|
|
NM_024426.6(WT1):c.301G>C (p.Val101Leu)
|
rs1853461708
|
|
NM_024426.6(WT1):c.305G>A (p.Ser102Asn)
|
rs1210117032
|
|
NM_024426.6(WT1):c.306C>A (p.Ser102Arg)
|
|
|
NM_024426.6(WT1):c.307G>T (p.Gly103Cys)
|
rs1348287926
|
|
NM_024426.6(WT1):c.310G>A (p.Ala104Thr)
|
rs1853461168
|
|
NM_024426.6(WT1):c.311C>T (p.Ala104Val)
|
|
|
NM_024426.6(WT1):c.313G>T (p.Ala105Ser)
|
rs1236417259
|
|
NM_024426.6(WT1):c.314C>A (p.Ala105Glu)
|
rs948061247
|
|
NM_024426.6(WT1):c.319T>G (p.Trp107Gly)
|
rs1853460114
|
|
NM_024426.6(WT1):c.320G>T (p.Trp107Leu)
|
rs1009810769
|
|
NM_024426.6(WT1):c.322G>A (p.Ala108Thr)
|
|
|
NM_024426.6(WT1):c.325C>G (p.Pro109Ala)
|
|
|
NM_024426.6(WT1):c.325C>T (p.Pro109Ser)
|
|
|
NM_024426.6(WT1):c.326C>A (p.Pro109Gln)
|
rs1853459569
|
|
NM_024426.6(WT1):c.328G>T (p.Val110Leu)
|
|
|
NM_024426.6(WT1):c.329T>C (p.Val110Ala)
|
rs1853459284
|
|
NM_024426.6(WT1):c.32C>T (p.Ser11Phe)
|
|
|
NM_024426.6(WT1):c.332T>C (p.Leu111Pro)
|
|
|
NM_024426.6(WT1):c.338T>A (p.Phe113Tyr)
|
|
|
NM_024426.6(WT1):c.338T>C (p.Phe113Ser)
|
|
|
NM_024426.6(WT1):c.33_34delinsAC (p.Thr12Pro)
|
rs2133107830
|
|
NM_024426.6(WT1):c.340G>A (p.Ala114Thr)
|
rs1590410300
|
|
NM_024426.6(WT1):c.341C>T (p.Ala114Val)
|
rs1311557029
|
|
NM_024426.6(WT1):c.343C>A (p.Pro115Thr)
|
rs916583720
|
|
NM_024426.6(WT1):c.344C>A (p.Pro115His)
|
rs1565001804
|
|
NM_024426.6(WT1):c.346C>A (p.Pro116Thr)
|
rs1554946595
|
|
NM_024426.6(WT1):c.347C>G (p.Pro116Arg)
|
|
|
NM_024426.6(WT1):c.347C>T (p.Pro116Leu)
|
rs886048229
|
|
NM_024426.6(WT1):c.34A>G (p.Thr12Ala)
|
|
|
NM_024426.6(WT1):c.351C>T (p.Gly117=)
|
rs1473590912
|
|
NM_024426.6(WT1):c.352G>A (p.Ala118Thr)
|
rs1253163678
|
|
NM_024426.6(WT1):c.356C>G (p.Ser119Trp)
|
rs1853456180
|
|
NM_024426.6(WT1):c.356C>T (p.Ser119Leu)
|
|
|
NM_024426.6(WT1):c.358G>A (p.Ala120Thr)
|
rs1590410151
|
|
NM_024426.6(WT1):c.35C>A (p.Thr12Lys)
|
|
|
NM_024426.6(WT1):c.35C>T (p.Thr12Met)
|
rs2133107793
|
|
NM_024426.6(WT1):c.367T>G (p.Ser123Ala)
|
|
|
NM_024426.6(WT1):c.368C>T (p.Ser123Leu)
|
rs2133104248
|
|
NM_024426.6(WT1):c.372G>T (p.Leu124Phe)
|
|
|
NM_024426.6(WT1):c.376G>A (p.Gly126Ser)
|
rs1853454814
|
|
NM_024426.6(WT1):c.376G>C (p.Gly126Arg)
|
|
|
NM_024426.6(WT1):c.376G>T (p.Gly126Cys)
|
rs1853454814
|
|
NM_024426.6(WT1):c.377G>A (p.Gly126Asp)
|
|
|
NM_024426.6(WT1):c.377G>C (p.Gly126Ala)
|
rs2133104145
|
|
NM_024426.6(WT1):c.379C>A (p.Pro127Thr)
|
rs1554946578
|
|
NM_024426.6(WT1):c.379C>T (p.Pro127Ser)
|
|
|
NM_024426.6(WT1):c.380C>T (p.Pro127Leu)
|
|
|
NM_024426.6(WT1):c.382G>A (p.Ala128Thr)
|
rs1853454136
|
|
NM_024426.6(WT1):c.383C>A (p.Ala128Glu)
|
|
|
NM_024426.6(WT1):c.386C>T (p.Pro129Leu)
|
rs745435848
|
|
NM_024426.6(WT1):c.388C>T (p.Pro130Ser)
|
rs1554946573
|
|
NM_024426.6(WT1):c.389C>T (p.Pro130Leu)
|
|
|
NM_024426.6(WT1):c.390A>G (p.Pro130=)
|
rs886048228
|
|
NM_024426.6(WT1):c.390_401dup (p.128APPP[3])
|
rs2133103848
|
|
NM_024426.6(WT1):c.391C>A (p.Pro131Thr)
|
|
|
NM_024426.6(WT1):c.391C>T (p.Pro131Ser)
|
rs564706633
|
|
NM_024426.6(WT1):c.392C>T (p.Pro131Leu)
|
|
|
NM_024426.6(WT1):c.393G>A (p.Pro131=)
|
rs1229890218
|
|
NM_024426.6(WT1):c.393_407del (p.Ala132_Pro136del)
|
rs1853451296
|
|
NM_024426.6(WT1):c.393_407dup (p.Ala132_Pro136dup)
|
rs1853451296
|
|
NM_024426.6(WT1):c.394G>T (p.Ala132Ser)
|
|
|
NM_024426.6(WT1):c.395C>G (p.Ala132Gly)
|
|
|
NM_024426.6(WT1):c.397C>T (p.Pro133Ser)
|
rs1202603651
|
|
NM_024426.6(WT1):c.398C>A (p.Pro133Gln)
|
|
|
NM_024426.6(WT1):c.400C>T (p.Pro134Ser)
|
rs2133103862
|
|
NM_024426.6(WT1):c.401C>A (p.Pro134Gln)
|
|
|
NM_024426.6(WT1):c.401C>G (p.Pro134Arg)
|
rs748974419
|
|
NM_024426.6(WT1):c.401C>T (p.Pro134Leu)
|
|
|
NM_024426.6(WT1):c.402G>A (p.Pro134=)
|
rs777527675
|
|
NM_024426.6(WT1):c.405_413dup (p.Pro141_His142insProProPro)
|
|
|
NM_024426.6(WT1):c.405_416dup (p.Pro138_Pro141dup)
|
rs1469499452
|
|
NM_024426.6(WT1):c.405_419del (p.Pro137_Pro141del)
|
rs2133103594
|
|
NM_024426.6(WT1):c.405_422dup (p.Pro136_Pro141dup)
|
rs1853449457
|
|
NM_024426.6(WT1):c.406C>T (p.Pro136Ser)
|
|
|
NM_024426.6(WT1):c.409C>G (p.Pro137Ala)
|
rs1853451078
|
|
NM_024426.6(WT1):c.40G>C (p.Val14Leu)
|
|
|
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)
|
rs760304811
|
|
NM_024426.6(WT1):c.412C>A (p.Pro138Thr)
|
|
|
NM_024426.6(WT1):c.413C>A (p.Pro138Gln)
|
rs1853450493
|
|
NM_024426.6(WT1):c.413C>G (p.Pro138Arg)
|
rs1853450493
|
|
NM_024426.6(WT1):c.413C>T (p.Pro138Leu)
|
|
|
NM_024426.6(WT1):c.416C>A (p.Pro139Gln)
|
|
|
NM_024426.6(WT1):c.416C>G (p.Pro139Arg)
|
rs878855085
|
|
NM_024426.6(WT1):c.422C>T (p.Pro141Leu)
|
|
|
NM_024426.6(WT1):c.424C>T (p.His142Tyr)
|
|
|
NM_024426.6(WT1):c.425A>C (p.His142Pro)
|
rs1565001515
|
|
NM_024426.6(WT1):c.425A>T (p.His142Leu)
|
rs1565001515
|
|
NM_024426.6(WT1):c.426C>G (p.His142Gln)
|
rs1183359726
|
|
NM_024426.6(WT1):c.427T>C (p.Ser143Pro)
|
rs778937284
|
|
NM_024426.6(WT1):c.428C>G (p.Ser143Cys)
|
|
|
NM_024426.6(WT1):c.430_432del (p.Phe144del)
|
|
|
NM_024426.6(WT1):c.433A>G (p.Ile145Val)
|
rs2133103410
|
|
NM_024426.6(WT1):c.436A>C (p.Lys146Gln)
|
|
|
NM_024426.6(WT1):c.440A>C (p.Gln147Pro)
|
|
|
NM_024426.6(WT1):c.445C>T (p.Pro149Ser)
|
rs1554946517
|
|
NM_024426.6(WT1):c.446C>A (p.Pro149Gln)
|
rs1853447771
|
|
NM_024426.6(WT1):c.446C>G (p.Pro149Arg)
|
rs1853447771
|
|
NM_024426.6(WT1):c.448A>G (p.Ser150Gly)
|
rs1853447534
|
|
NM_024426.6(WT1):c.449G>A (p.Ser150Asn)
|
rs1853447426
|
|
NM_024426.6(WT1):c.449G>T (p.Ser150Ile)
|
|
|
NM_024426.6(WT1):c.44C>T (p.Pro15Leu)
|
rs2133107749
|
|
NM_024426.6(WT1):c.450C>A (p.Ser150Arg)
|
rs1213710686
|
|
NM_024426.6(WT1):c.451T>A (p.Trp151Arg)
|
rs1853446972
|
|
NM_024426.6(WT1):c.455G>A (p.Gly152Asp)
|
rs1853446628
|
|
NM_024426.6(WT1):c.460G>A (p.Ala154Thr)
|
|
|
NM_024426.6(WT1):c.463G>A (p.Glu155Lys)
|
rs1853446395
|
|
NM_024426.6(WT1):c.466C>T (p.Pro156Ser)
|
rs1353428791
|
|
NM_024426.6(WT1):c.467C>A (p.Pro156Gln)
|
rs1225927150
|
|
NM_024426.6(WT1):c.467C>T (p.Pro156Leu)
|
rs1225927150
|
|
NM_024426.6(WT1):c.46G>A (p.Glu16Lys)
|
rs2133107724
|
|
NM_024426.6(WT1):c.471C>A (p.His157Gln)
|
rs753238865
|
|
NM_024426.6(WT1):c.471C>G (p.His157Gln)
|
rs753238865
|
|
NM_024426.6(WT1):c.472G>A (p.Glu158Lys)
|
rs1565001383
|
|
NM_024426.6(WT1):c.472G>C (p.Glu158Gln)
|
rs1565001383
|
|
NM_024426.6(WT1):c.476A>G (p.Glu159Gly)
|
|
|
NM_024426.6(WT1):c.477G>C (p.Glu159Asp)
|
rs2133102935
|
|
NM_024426.6(WT1):c.478C>G (p.Gln160Glu)
|
rs1554946500
|
|
NM_024426.6(WT1):c.480G>C (p.Gln160His)
|
rs758900425
|
|
NM_024426.6(WT1):c.481T>G (p.Cys161Gly)
|
|
|
NM_024426.6(WT1):c.482G>T (p.Cys161Phe)
|
rs1201988298
|
|
NM_024426.6(WT1):c.488G>A (p.Ser163Asn)
|
rs1853444119
|
|
NM_024426.6(WT1):c.489C>G (p.Ser163Arg)
|
|
|
NM_024426.6(WT1):c.490G>C (p.Ala164Pro)
|
rs986597775
|
|
NM_024426.6(WT1):c.496A>G (p.Thr166Ala)
|
rs1853443725
|
|
NM_024426.6(WT1):c.497C>G (p.Thr166Ser)
|
|
|
NM_024426.6(WT1):c.49C>A (p.Pro17Thr)
|
|
|
NM_024426.6(WT1):c.49C>T (p.Pro17Ser)
|
|
|
NM_024426.6(WT1):c.500T>C (p.Val167Ala)
|
|
|
NM_024426.6(WT1):c.503A>G (p.His168Arg)
|
rs762660918
|
|
NM_024426.6(WT1):c.505T>C (p.Phe169Leu)
|
rs2133102637
|
|
NM_024426.6(WT1):c.506T>C (p.Phe169Ser)
|
|
|
NM_024426.6(WT1):c.50C>T (p.Pro17Leu)
|
rs1853481697
|
|
NM_024426.6(WT1):c.511G>C (p.Gly171Arg)
|
|
|
NM_024426.6(WT1):c.519C>A (p.Phe173Leu)
|
|
|
NM_024426.6(WT1):c.520A>G (p.Thr174Ala)
|
rs955122145
|
|
NM_024426.6(WT1):c.524G>A (p.Gly175Asp)
|
rs1853442286
|
|
NM_024426.6(WT1):c.527C>T (p.Thr176Ile)
|
rs1853442157
|
|
NM_024426.6(WT1):c.529G>T (p.Ala177Ser)
|
|
|
NM_024426.6(WT1):c.52G>C (p.Ala18Pro)
|
rs1590411684
|
|
NM_024426.6(WT1):c.52G>T (p.Ala18Ser)
|
|
|
NM_024426.6(WT1):c.532G>A (p.Gly178Arg)
|
|
|
NM_024426.6(WT1):c.533G>A (p.Gly178Glu)
|
|
|
NM_024426.6(WT1):c.535G>A (p.Ala179Thr)
|
rs2133102397
|
|
NM_024426.6(WT1):c.539G>A (p.Cys180Tyr)
|
|
|
NM_024426.6(WT1):c.53C>A (p.Ala18Glu)
|
|
|
NM_024426.6(WT1):c.541C>A (p.Arg181Ser)
|
rs1565001278
|
|
NM_024426.6(WT1):c.541C>G (p.Arg181Gly)
|
|
|
NM_024426.6(WT1):c.542G>C (p.Arg181Pro)
|
rs1853441270
|
|
NM_024426.6(WT1):c.544T>C (p.Tyr182His)
|
|
|
NM_024426.6(WT1):c.547G>C (p.Gly183Arg)
|
rs1462705405
|
|
NM_024426.6(WT1):c.548G>A (p.Gly183Glu)
|
rs1060501256
|
|
NM_024426.6(WT1):c.553T>G (p.Phe185Val)
|
|
|
NM_024426.6(WT1):c.554T>G (p.Phe185Cys)
|
|
|
NM_024426.6(WT1):c.555C>G (p.Phe185Leu)
|
|
|
NM_024426.6(WT1):c.556G>A (p.Gly186Ser)
|
rs768644520
|
|
NM_024426.6(WT1):c.557G>A (p.Gly186Asp)
|
|
|
NM_024426.6(WT1):c.562C>T (p.Pro188Ser)
|
rs1565001232
|
|
NM_024426.6(WT1):c.563C>T (p.Pro188Leu)
|
rs2133102091
|
|
NM_024426.6(WT1):c.565C>G (p.Pro189Ala)
|
rs1853439331
|
|
NM_024426.6(WT1):c.565C>T (p.Pro189Ser)
|
rs1853439331
|
|
NM_024426.6(WT1):c.566C>A (p.Pro189Gln)
|
|
|
NM_024426.6(WT1):c.566C>G (p.Pro189Arg)
|
rs745879965
|
|
NM_024426.6(WT1):c.56C>G (p.Ser19Cys)
|
|
|
NM_024426.6(WT1):c.572G>C (p.Ser191Thr)
|
rs2133101967
|
|
NM_024426.6(WT1):c.575A>G (p.Gln192Arg)
|
rs1853438394
|
|
NM_024426.6(WT1):c.577G>A (p.Ala193Thr)
|
rs1590409175
|
|
NM_024426.6(WT1):c.577G>C (p.Ala193Pro)
|
rs1590409175
|
|
NM_024426.6(WT1):c.577_582dup (p.Ser194_Ser195insAlaSer)
|
|
|
NM_024426.6(WT1):c.578C>A (p.Ala193Glu)
|
|
|
NM_024426.6(WT1):c.578C>G (p.Ala193Gly)
|
rs572926487
|
|
NM_024426.6(WT1):c.578C>T (p.Ala193Val)
|
|
|
NM_024426.6(WT1):c.581C>T (p.Ser194Leu)
|
rs2133101846
|
|
NM_024426.6(WT1):c.583T>G (p.Ser195Ala)
|
|
|
NM_024426.6(WT1):c.584C>T (p.Ser195Phe)
|
rs778194188
|
|
NM_024426.6(WT1):c.589C>A (p.Gln197Lys)
|
rs2133101720
|
|
NM_024426.6(WT1):c.590A>G (p.Gln197Arg)
|
rs1853436737
|
|
NM_024426.6(WT1):c.591G>T (p.Gln197His)
|
rs767850217
|
|
NM_024426.6(WT1):c.592G>T (p.Ala198Ser)
|
|
|
NM_024426.6(WT1):c.593C>T (p.Ala198Val)
|
rs1853436133
|
|
NM_024426.6(WT1):c.598A>G (p.Met200Val)
|
|
|
NM_024426.6(WT1):c.598A>T (p.Met200Leu)
|
rs1853435610
|
|
NM_024426.6(WT1):c.599T>G (p.Met200Arg)
|
rs2133101589
|
|
NM_024426.6(WT1):c.59A>T (p.Gln20Leu)
|
|
|
NM_024426.6(WT1):c.600G>A (p.Met200Ile)
|
rs1060501257
|
|
NM_024426.6(WT1):c.604C>T (p.Pro202Ser)
|
rs1853435385
|
|
NM_024426.6(WT1):c.609C>A (p.Asn203Lys)
|
|
|
NM_024426.6(WT1):c.609C>G (p.Asn203Lys)
|
rs2234583
|
|
NM_024426.6(WT1):c.610G>T (p.Ala204Ser)
|
rs9332973
|
|
NM_024426.6(WT1):c.611C>T (p.Ala204Val)
|
rs1277548839
|
|
NM_024426.6(WT1):c.616T>C (p.Tyr206His)
|
|
|
NM_024426.6(WT1):c.62A>G (p.His21Arg)
|
rs1853481014
|
|
NM_024426.6(WT1):c.62A>T (p.His21Leu)
|
rs1853481014
|
|
NM_024426.6(WT1):c.631C>T (p.Leu211Phe)
|
rs1853433365
|
|
NM_024426.6(WT1):c.635A>G (p.Glu212Gly)
|
rs2133101294
|
|
NM_024426.6(WT1):c.636G>C (p.Glu212Asp)
|
|
|
NM_024426.6(WT1):c.638G>A (p.Ser213Asn)
|
rs746964440
|
|
NM_024426.6(WT1):c.639C>A (p.Ser213Arg)
|
|
|
NM_024426.6(WT1):c.643C>A (p.Pro215Thr)
|
|
|
NM_024426.6(WT1):c.649A>C (p.Ile217Leu)
|
rs1384974578
|
|
NM_024426.6(WT1):c.649A>G (p.Ile217Val)
|
rs1384974578
|
|
NM_024426.6(WT1):c.649A>T (p.Ile217Phe)
|
rs1384974578
|
|
NM_024426.6(WT1):c.64A>G (p.Thr22Ala)
|
rs2133107584
|
|
NM_024426.6(WT1):c.652C>A (p.Arg218Ser)
|
rs2133101131
|
|
NM_024426.6(WT1):c.652C>T (p.Arg218Cys)
|
|
|
NM_024426.6(WT1):c.653G>A (p.Arg218His)
|
rs756414084
|
|
NM_024426.6(WT1):c.653G>T (p.Arg218Leu)
|
rs756414084
|
|
NM_024426.6(WT1):c.655A>C (p.Asn219His)
|
rs748435329
|
|
NM_024426.6(WT1):c.656A>G (p.Asn219Ser)
|
|
|
NM_024426.6(WT1):c.659A>G (p.Gln220Arg)
|
rs1554946409
|
|
NM_024426.6(WT1):c.659A>T (p.Gln220Leu)
|
rs1554946409
|
|
NM_024426.6(WT1):c.65C>A (p.Thr22Lys)
|
|
|
NM_024426.6(WT1):c.660G>A (p.Gln220=)
|
|
|
NM_024426.6(WT1):c.661+15G>T
|
rs1362460137
|
|
NM_024426.6(WT1):c.661+3A>G
|
|
|
NM_024426.6(WT1):c.661G>A (p.Gly221Ser)
|
|
|
NM_024426.6(WT1):c.661G>T (p.Gly221Cys)
|
|
|
NM_024426.6(WT1):c.662-3C>T
|
rs1853152059
|
|
NM_024426.6(WT1):c.662G>T (p.Gly221Val)
|
|
|
NM_024426.6(WT1):c.664T>C (p.Tyr222His)
|
rs746367691
|
|
NM_024426.6(WT1):c.667A>G (p.Ser223Gly)
|
|
|
NM_024426.6(WT1):c.670A>T (p.Thr224Ser)
|
rs1554945246
|
|
NM_024426.6(WT1):c.671C>A (p.Thr224Lys)
|
|
|
NM_024426.6(WT1):c.671C>T (p.Thr224Met)
|
rs779451877
|
|
NM_024426.6(WT1):c.674T>C (p.Val225Ala)
|
|
|
NM_024426.6(WT1):c.676A>C (p.Thr226Pro)
|
rs1853150433
|
|
NM_024426.6(WT1):c.677C>A (p.Thr226Asn)
|
rs556804456
|
|
NM_024426.6(WT1):c.677C>T (p.Thr226Ile)
|
rs556804456
|
|
NM_024426.6(WT1):c.67C>T (p.Leu23Phe)
|
rs2133107546
|
|
NM_024426.6(WT1):c.680T>C (p.Phe227Ser)
|
rs1554945235
|
|
NM_024426.6(WT1):c.682G>A (p.Asp228Asn)
|
rs1193052708
|
|
NM_024426.6(WT1):c.685G>C (p.Gly229Arg)
|
rs767419243
|
|
NM_024426.6(WT1):c.689C>A (p.Thr230Lys)
|
|
|
NM_024426.6(WT1):c.689C>G (p.Thr230Arg)
|
rs777166391
|
|
NM_024426.6(WT1):c.690_691delinsTT (p.Pro231Ser)
|
rs1853148368
|
|
NM_024426.6(WT1):c.691C>G (p.Pro231Ala)
|
rs766425764
|
|
NM_024426.6(WT1):c.694A>G (p.Ser232Gly)
|
|
|
NM_024426.6(WT1):c.694_699dup (p.Tyr233_Gly234insSerTyr)
|
rs1853147640
|
|
NM_024426.6(WT1):c.698A>G (p.Tyr233Cys)
|
|
|
NM_024426.6(WT1):c.69_70del (p.Arg24fs)
|
|
|
NM_024426.6(WT1):c.700G>C (p.Gly234Arg)
|
rs1307992683
|
|
NM_024426.6(WT1):c.700G>T (p.Gly234Cys)
|
rs1307992683
|
|
NM_024426.6(WT1):c.707C>T (p.Thr236Met)
|
rs1372808262
|
|
NM_024426.6(WT1):c.709C>T (p.Pro237Ser)
|
rs2133075717
|
|
NM_024426.6(WT1):c.70C>A (p.Arg24Ser)
|
|
|
NM_024426.6(WT1):c.70C>G (p.Arg24Gly)
|
|
|
NM_024426.6(WT1):c.718C>T (p.His240Tyr)
|
rs2133075605
|
|
NM_024426.6(WT1):c.719A>G (p.His240Arg)
|
rs886932571
|
|
NM_024426.6(WT1):c.719A>T (p.His240Leu)
|
rs886932571
|
|
NM_024426.6(WT1):c.71G>C (p.Arg24Pro)
|
|
|
NM_024426.6(WT1):c.721G>A (p.Ala241Thr)
|
rs1853145802
|
|
NM_024426.6(WT1):c.722C>T (p.Ala241Val)
|
rs1190263054
|
|
NM_024426.6(WT1):c.725C>T (p.Ala242Val)
|
rs1853145265
|
|
NM_024426.6(WT1):c.730T>C (p.Phe244Leu)
|
rs771455202
|
|
NM_024426.6(WT1):c.733C>T (p.Pro245Ser)
|
rs2133075412
|
|
NM_024426.6(WT1):c.737A>G (p.Asn246Ser)
|
|
|
NM_024426.6(WT1):c.73T>C (p.Ser25Pro)
|
|
|
NM_024426.6(WT1):c.740A>G (p.His247Arg)
|
rs749860238
|
|
NM_024426.6(WT1):c.740A>T (p.His247Leu)
|
rs749860238
|
|
NM_024426.6(WT1):c.742T>G (p.Ser248Ala)
|
|
|
NM_024426.6(WT1):c.745T>A (p.Phe249Ile)
|
rs2133075297
|
|
NM_024426.6(WT1):c.746T>G (p.Phe249Cys)
|
rs777119782
|
|
NM_024426.6(WT1):c.747C>G (p.Phe249Leu)
|
rs1060501259
|
|
NM_024426.6(WT1):c.752A>G (p.His251Arg)
|
rs914029023
|
|
NM_024426.6(WT1):c.752A>T (p.His251Leu)
|
rs914029023
|
|
NM_024426.6(WT1):c.757G>A (p.Asp253Asn)
|
rs1853142313
|
|
NM_024426.6(WT1):c.758A>T (p.Asp253Val)
|
|
|
NM_024426.6(WT1):c.760C>A (p.Pro254Thr)
|
rs2234584
|
|
NM_024426.6(WT1):c.763A>C (p.Met255Leu)
|
rs142653301
|
|
NM_024426.6(WT1):c.763A>T (p.Met255Leu)
|
rs142653301
|
|
NM_024426.6(WT1):c.765G>C (p.Met255Ile)
|
rs1060501255
|
|
NM_024426.6(WT1):c.765G>T (p.Met255Ile)
|
rs1060501255
|
|
NM_024426.6(WT1):c.767G>A (p.Gly256Asp)
|
|
|
NM_024426.6(WT1):c.767G>T (p.Gly256Val)
|
rs1554945190
|
|
NM_024426.6(WT1):c.76G>C (p.Gly26Arg)
|
rs1189241211
|
|
NM_024426.6(WT1):c.76_80del (p.Gly26fs)
|
|
|
NM_024426.6(WT1):c.773A>G (p.Gln258Arg)
|
rs1853140674
|
|
NM_024426.6(WT1):c.774G>C (p.Gln258His)
|
rs1853140429
|
|
NM_024426.6(WT1):c.776G>A (p.Gly259Asp)
|
rs1311184469
|
|
NM_024426.6(WT1):c.781C>G (p.Leu261Val)
|
|
|
NM_024426.6(WT1):c.784+5G>A
|
|
|
NM_024426.6(WT1):c.784+6C>T
|
rs1455790542
|
|
NM_024426.6(WT1):c.784G>T (p.Gly262Cys)
|
|
|
NM_024426.6(WT1):c.785-14G>A
|
rs375514482
|
|
NM_024426.6(WT1):c.785-3C>T
|
rs1590394595
|
|
NM_024426.6(WT1):c.785-7T>G
|
rs758280375
|
|
NM_024426.6(WT1):c.790C>T (p.Gln264Ter)
|
|
|
NM_024426.6(WT1):c.791A>C (p.Gln264Pro)
|
|
|
NM_024426.6(WT1):c.795G>C (p.Gln265His)
|
|
|
NM_024426.6(WT1):c.796T>C (p.Tyr266His)
|
|
|
NM_024426.6(WT1):c.799T>G (p.Ser267Ala)
|
|
|
NM_024426.6(WT1):c.79C>T (p.Pro27Ser)
|
|
|
NM_024426.6(WT1):c.7T>G (p.Phe3Val)
|
|
|
NM_024426.6(WT1):c.800C>T (p.Ser267Leu)
|
rs2133073025
|
|
NM_024426.6(WT1):c.803T>C (p.Val268Ala)
|
|
|
NM_024426.6(WT1):c.806C>T (p.Pro269Leu)
|
rs756078681
|
|
NM_024426.6(WT1):c.809C>T (p.Pro270Leu)
|
rs1853120541
|
|
NM_024426.6(WT1):c.812C>A (p.Pro271Gln)
|
|
|
NM_024426.6(WT1):c.820G>A (p.Gly274Ser)
|
|
|
NM_024426.6(WT1):c.825C>G (p.Cys275Trp)
|
rs200222400
|
|
NM_024426.6(WT1):c.830C>A (p.Thr277Asn)
|
rs138073760
|
|
NM_024426.6(WT1):c.832C>T (p.Pro278Ser)
|
|
|
NM_024426.6(WT1):c.836C>T (p.Thr279Ile)
|
|
|
NM_024426.6(WT1):c.840C>G (p.Asp280Glu)
|
|
|
NM_024426.6(WT1):c.842G>C (p.Ser281Thr)
|
|
|
NM_024426.6(WT1):c.845G>T (p.Cys282Phe)
|
|
|
NM_024426.6(WT1):c.848C>T (p.Thr283Ile)
|
rs776258782
|
|
NM_024426.6(WT1):c.854G>A (p.Ser285Asn)
|
rs779813097
|
|
NM_024426.6(WT1):c.854G>C (p.Ser285Thr)
|
rs779813097
|
|
NM_024426.6(WT1):c.855C>A (p.Ser285Arg)
|
rs1320428764
|
|
NM_024426.6(WT1):c.857A>C (p.Gln286Pro)
|
rs2133072249
|
|
NM_024426.6(WT1):c.859G>C (p.Ala287Pro)
|
rs368452754
|
|
NM_024426.6(WT1):c.866T>C (p.Leu289Pro)
|
rs2133072199
|
|
NM_024426.6(WT1):c.869T>G (p.Leu290Arg)
|
|
|
NM_024426.6(WT1):c.874A>G (p.Thr292Ala)
|
rs1853114494
|
|
NM_024426.6(WT1):c.875C>A (p.Thr292Lys)
|
rs1853114358
|
|
NM_024426.6(WT1):c.875C>T (p.Thr292Met)
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rs1853114358
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NM_024426.6(WT1):c.877C>T (p.Pro293Ser)
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NM_024426.6(WT1):c.87C>A (p.Cys29Ter)
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rs1554946770
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NM_024426.6(WT1):c.883A>G (p.Ser295Gly)
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rs1853113579
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NM_024426.6(WT1):c.884G>A (p.Ser295Asn)
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NM_024426.6(WT1):c.887+15_887+16delinsAA
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NM_024426.6(WT1):c.887+5del
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NM_024426.6(WT1):c.888-1G>A
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NM_024426.6(WT1):c.888-9T>A
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rs1852720933
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NM_024426.6(WT1):c.891C>A (p.Asp297Glu)
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rs2133037806
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NM_024426.6(WT1):c.892A>G (p.Asn298Asp)
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rs1554943492
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NM_024426.6(WT1):c.893A>G (p.Asn298Ser)
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rs907964605
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NM_024426.6(WT1):c.905T>A (p.Met302Lys)
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rs1208241960
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NM_024426.6(WT1):c.905T>G (p.Met302Arg)
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NM_024426.6(WT1):c.906G>T (p.Met302Ile)
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NM_024426.6(WT1):c.907A>G (p.Thr303Ala)
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NM_024426.6(WT1):c.908C>T (p.Thr303Ile)
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NM_024426.6(WT1):c.910T>C (p.Ser304Pro)
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NM_024426.6(WT1):c.916C>A (p.Leu306Ile)
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rs2133037398
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NM_024426.6(WT1):c.919G>C (p.Glu307Gln)
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rs1852718651
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NM_024426.6(WT1):c.91C>G (p.Gln31Glu)
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NM_024426.6(WT1):c.91C>T (p.Gln31Ter)
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rs914057243
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NM_024426.6(WT1):c.922T>G (p.Cys308Gly)
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rs1852718495
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NM_024426.6(WT1):c.923G>A (p.Cys308Tyr)
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NM_024426.6(WT1):c.928A>C (p.Thr310Pro)
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NM_024426.6(WT1):c.941T>C (p.Met314Thr)
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NM_024426.6(WT1):c.941T>G (p.Met314Arg)
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NM_024426.6(WT1):c.946T>A (p.Leu316Ile)
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rs2133036912
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NM_024426.6(WT1):c.94C>A (p.Gln32Lys)
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NM_024426.6(WT1):c.953C>G (p.Ala318Gly)
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rs1201042140
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NM_024426.6(WT1):c.955A>G (p.Thr319Ala)
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rs1852716784
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NM_024426.6(WT1):c.956C>A (p.Thr319Asn)
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rs372630828
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NM_024426.6(WT1):c.962A>C (p.Lys321Thr)
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NM_024426.6(WT1):c.964G>A (p.Gly322Arg)
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NM_024426.6(WT1):c.965+5G>A
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rs2133036572
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NM_024426.6(WT1):c.965+6G>A
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NM_024426.6(WT1):c.965G>A (p.Gly322Glu)
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NM_024426.6(WT1):c.966-1G>A
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rs773989805
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NM_024426.6(WT1):c.966-3T>C
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NM_024426.6(WT1):c.968T>C (p.Val323Ala)
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rs1852677213
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NM_024426.6(WT1):c.970G>T (p.Ala324Ser)
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NM_024426.6(WT1):c.973G>T (p.Ala325Ser)
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NM_024426.6(WT1):c.976G>C (p.Gly326Arg)
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NM_024426.6(WT1):c.979A>C (p.Ser327Arg)
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rs1590373542
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NM_024426.6(WT1):c.985A>G (p.Ser329Gly)
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|
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NM_024426.6(WT1):c.987C>G (p.Ser329Arg)
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rs2133032527
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NM_024426.6(WT1):c.988T>C (p.Ser330Pro)
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rs879279620
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NM_024426.6(WT1):c.989C>T (p.Ser330Leu)
|
rs762688982
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NM_024426.6(WT1):c.98C>A (p.Pro33Gln)
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NM_024426.6(WT1):c.991G>A (p.Val331Met)
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NM_024426.6(WT1):c.992T>C (p.Val331Ala)
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NM_024426.6(WT1):c.996A>T (p.Lys332Asn)
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rs758410591
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NM_024426.6(WT1):c.997T>C (p.Trp333Arg)
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NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala)
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rs1064793824
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NM_024675.4(PALB2):c.398G>C (p.Ser133Thr)
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rs864622411
|
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NM_025081.3(NYNRIN):c.5493G>C (p.Gln1831His)
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rs2139356308
|
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NM_032409.3(PINK1):c.943T>C (p.Phe315Leu)
|
|
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NM_152383.5(DIS3L2):c.2534A>G (p.Gln845Arg)
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rs371430235
|
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NM_177438.3(DICER1):c.*1448del
|
rs35463377
|
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NM_177438.3(DICER1):c.*1449_*1450insT
|
rs886050934
|
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NM_177438.3(DICER1):c.*2964del
|
rs537009606
|
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NM_177438.3(DICER1):c.*326del
|
rs35649919
|
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NM_177438.3(DICER1):c.1908-138_2804+645del
|
|
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NM_177438.3(DICER1):c.209_210inv (p.Lys70Thr)
|
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NM_177438.3(DICER1):c.2154G>C (p.Glu718Asp)
|
rs1555371628
|
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NM_177438.3(DICER1):c.2210C>T (p.Pro737Leu)
|
rs1595391071
|
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NM_177438.3(DICER1):c.2458A>G (p.Thr820Ala)
|
rs1595380820
|
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NM_177438.3(DICER1):c.3094-8_3094-5del
|
rs770904411
|
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NM_177438.3(DICER1):c.3357T>A (p.Asp1119Glu)
|
|
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NM_177438.3(DICER1):c.4206+9_4206+21delinsT
|
rs886050941
|
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NM_177438.3(DICER1):c.4374G>A (p.Met1458Ile)
|
rs1488281692
|
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NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu)
|
rs749900564
|
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NM_177438.3(DICER1):c.5670del (p.Phe1890fs)
|
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NM_177438.3(DICER1):c.625A>G (p.Ile209Val)
|
rs2140260977
|
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NM_177438.3(DICER1):c.968G>T (p.Gly323Val)
|
rs906299601
|
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NM_203447.4(DOCK8):c.959C>T (p.Thr320Met)
|
rs766320232
|
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Single allele
|
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