|
NM_003073.5(SMARCB1):c.232+221T>C
|
rs5760021
|
0.92915
|
|
NM_003073.5(SMARCB1):c.232+313T>C
|
rs5760022
|
0.92408
|
|
NM_003073.5(SMARCB1):c.628+66G>C
|
rs5751738
|
0.92402
|
|
NM_003073.5(SMARCB1):c.501-87A>G
|
rs5760030
|
0.92398
|
|
NM_003073.3(SMARCB1):c.-352T>G
|
rs2073387
|
0.92379
|
|
NM_003073.5(SMARCB1):c.629-248A>G
|
rs2073392
|
0.92347
|
|
NM_003073.5(SMARCB1):c.500+234C>G
|
rs738797
|
0.80402
|
|
NM_003073.5(SMARCB1):c.628+118C>T
|
rs5760032
|
0.69741
|
|
NM_003073.5(SMARCB1):c.795+184A>T
|
rs2070458
|
0.69553
|
|
NM_003073.5(SMARCB1):c.363-153C>T
|
rs9608186
|
0.58484
|
|
NM_003073.5(SMARCB1):c.363-154G>C
|
rs9608185
|
0.58484
|
|
NM_003073.5(SMARCB1):c.629-260G>C
|
rs2070456
|
0.39372
|
|
NM_003073.5(SMARCB1):c.629-58C>A
|
rs2070457
|
0.30242
|
|
NM_003073.5(SMARCB1):c.987-176A>C
|
rs2267045
|
0.23782
|
|
NM_003073.5(SMARCB1):c.987-319G>T
|
rs34864242
|
0.17983
|
|
NM_003073.5(SMARCB1):c.1119-41G>A
|
rs5030613
|
0.12892
|
|
NM_003073.5(SMARCB1):c.501-164C>T
|
rs11090286
|
0.12280
|
|
NM_003073.5(SMARCB1):c.628+200T>C
|
rs17003912
|
0.12185
|
|
NM_003073.5(SMARCB1):c.795+121G>A
|
rs9612452
|
0.11986
|
|
NM_003073.5(SMARCB1):c.796-246G>A
|
rs11704119
|
0.11984
|
|
NM_003073.5(SMARCB1):c.795+203C>T
|
rs2073394
|
0.11969
|
|
NM_003073.5(SMARCB1):c.795+198T>C
|
rs2070459
|
0.11963
|
|
NM_003073.5(SMARCB1):c.796-227C>T
|
rs11704313
|
0.11962
|
|
NM_003073.5(SMARCB1):c.362+132C>T
|
rs6003886
|
0.11539
|
|
NM_003073.5(SMARCB1):c.1119-164G>A
|
rs9612483
|
0.11299
|
|
NM_003073.5(SMARCB1):c.986+300C>G
|
rs34297729
|
0.11267
|
|
NM_003073.4(SMARCB1):c.-228G>T
|
rs11704810
|
0.11093
|
|
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=)
|
rs2229354
|
0.10948
|
|
NM_003073.5(SMARCB1):c.93+346T>C
|
rs55914016
|
0.10550
|
|
NM_003073.5(SMARCB1):c.629-62A>G
|
rs9608192
|
0.10387
|
|
NM_003073.5(SMARCB1):c.987-139G>A
|
rs2267046
|
0.10387
|
|
NM_003073.5(SMARCB1):c.93+685G>A
|
rs62241578
|
0.08754
|
|
NM_003073.5(SMARCB1):c.-117C>T
|
rs11090285
|
0.08005
|
|
NM_003073.5(SMARCB1):c.629-277C>T
|
rs35753558
|
0.05945
|
|
NM_003073.5(SMARCB1):c.362+63A>G
|
rs6003885
|
0.05519
|
|
NM_003073.3(SMARCB1):c.-485G>A
|
rs6003879
|
0.04708
|
|
NM_003073.5(SMARCB1):c.987-109C>T
|
rs35882817
|
0.04649
|
|
NM_003073.5(SMARCB1):c.629-202T>G
|
rs35467366
|
0.04237
|
|
NM_003073.5(SMARCB1):c.796-300A>G
|
rs35151722
|
0.03002
|
|
NM_003073.5(SMARCB1):c.628+314G>A
|
rs78280784
|
0.02976
|
|
NM_003073.5(SMARCB1):c.94-157C>T
|
rs76350592
|
0.02267
|
|
NM_003073.5(SMARCB1):c.500+305C>A
|
rs35502837
|
0.02069
|
|
NM_003073.5(SMARCB1):c.232+177A>G
|
rs36078092
|
0.01583
|
|
NM_003073.5(SMARCB1):c.362+248T>C
|
rs35471244
|
0.01576
|
|
NM_003073.5(SMARCB1):c.93+818C>T
|
rs116422729
|
0.01561
|
|
NM_003073.5(SMARCB1):c.1118+184T>A
|
rs144405686
|
0.00883
|
|
NM_003073.5(SMARCB1):c.795+119T>C
|
rs115624446
|
0.00817
|
|
NM_003073.5(SMARCB1):c.362+7C>T
|
rs34746244
|
0.00815
|
|
NM_003073.5(SMARCB1):c.1119-167_1119-164del
|
rs34796598
|
0.00813
|
|
NM_003073.5(SMARCB1):c.500+181C>G
|
rs35215776
|
0.00803
|
|
NM_003073.5(SMARCB1):c.500+116C>T
|
rs35782584
|
0.00708
|
|
NM_003073.5(SMARCB1):c.93+135C>A
|
rs575117667
|
0.00699
|
|
NM_003073.5(SMARCB1):c.93+425del
|
rs570797843
|
0.00665
|
|
NM_003073.5(SMARCB1):c.93+682A>G
|
rs116631662
|
0.00662
|
|
NM_003073.5(SMARCB1):c.501-146C>T
|
rs34017323
|
0.00635
|
|
NM_003073.5(SMARCB1):c.500+65G>A
|
rs34545858
|
0.00586
|
|
NM_003073.5(SMARCB1):c.1118+52A>G
|
rs191510585
|
0.00560
|
|
NC_000022.11:g.23786925C>T
|
rs115022311
|
0.00549
|
|
NM_003073.5(SMARCB1):c.628+116A>G
|
rs34300355
|
0.00548
|
|
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=)
|
rs35105793
|
0.00536
|
|
NM_003073.5(SMARCB1):c.-31C>T
|
rs34276473
|
0.00535
|
|
NM_003073.5(SMARCB1):c.501-23T>G
|
rs143872602
|
0.00452
|
|
NM_003073.5(SMARCB1):c.362+134C>T
|
rs150449817
|
0.00442
|
|
NM_003073.5(SMARCB1):c.-115C>T
|
rs551328283
|
0.00242
|
|
NM_003073.5(SMARCB1):c.628+13C>T
|
rs184021903
|
0.00235
|
|
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=)
|
rs144863210
|
0.00182
|
|
NM_003073.5(SMARCB1):c.-184G>A
|
rs563943196
|
0.00165
|
|
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)
|
rs138184483
|
0.00115
|
|
NM_003073.5(SMARCB1):c.500+24C>G
|
rs199737164
|
0.00086
|
|
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=)
|
rs141275968
|
0.00082
|
|
NM_003073.5(SMARCB1):c.987C>T (p.Ser329=)
|
rs137942040
|
0.00041
|
|
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=)
|
rs145934279
|
0.00029
|
|
NM_003073.5(SMARCB1):c.500+111C>A
|
rs35070121
|
0.00025
|
|
NM_003073.5(SMARCB1):c.282G>A (p.Ser94=)
|
rs149773283
|
0.00022
|
|
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val)
|
rs367768260
|
0.00020
|
|
NM_003073.5(SMARCB1):c.93+7C>T
|
rs369557828
|
0.00014
|
|
NM_003073.5(SMARCB1):c.1119-18T>C
|
rs774984894
|
0.00011
|
|
NM_003073.5(SMARCB1):c.1116G>A (p.Thr372=)
|
rs117084604
|
0.00010
|
|
NM_003073.5(SMARCB1):c.*17C>T
|
rs372348692
|
0.00009
|
|
NM_003073.5(SMARCB1):c.796-13G>T
|
rs756643970
|
0.00008
|
|
NM_003073.5(SMARCB1):c.987-13C>T
|
rs185572642
|
0.00008
|
|
NM_003073.5(SMARCB1):c.1119-3C>T
|
rs751265598
|
0.00006
|
|
NM_003073.5(SMARCB1):c.537C>T (p.Asn179=)
|
rs533184210
|
0.00006
|
|
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=)
|
rs757546528
|
0.00006
|
|
NM_003073.5(SMARCB1):c.987-4G>A
|
rs745773662
|
0.00006
|
|
NM_003073.5(SMARCB1):c.987-5C>T
|
rs781136700
|
0.00006
|
|
NM_003073.5(SMARCB1):c.500+14G>A
|
rs367566794
|
0.00005
|
|
NM_003073.5(SMARCB1):c.642G>A (p.Thr214=)
|
rs745315386
|
0.00005
|
|
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=)
|
rs149451748
|
0.00004
|
|
NM_003073.5(SMARCB1):c.1119-16C>G
|
rs978259870
|
0.00004
|
|
NM_003073.5(SMARCB1):c.348C>T (p.Pro116=)
|
rs888616162
|
0.00004
|
|
NM_003073.5(SMARCB1):c.783C>T (p.Arg261=)
|
rs748964274
|
0.00004
|
|
NM_003073.5(SMARCB1):c.855G>A (p.Glu285=)
|
rs754587817
|
0.00004
|
|
NM_003073.5(SMARCB1):c.889C>T (p.Leu297=)
|
rs370768337
|
0.00004
|
|
NM_003073.5(SMARCB1):c.912C>T (p.Gly304=)
|
rs374509291
|
0.00004
|
|
NM_003073.5(SMARCB1):c.132C>T (p.Tyr44=)
|
rs370334151
|
0.00003
|
|
NM_003073.5(SMARCB1):c.232+12C>T
|
rs373708886
|
0.00003
|
|
NM_003073.5(SMARCB1):c.369G>A (p.Gln123=)
|
rs760015392
|
0.00003
|
|
NM_003073.5(SMARCB1):c.628+5A>G
|
rs1298640170
|
0.00003
|
|
NM_003073.5(SMARCB1):c.712G>A (p.Ala238Thr)
|
rs765514964
|
0.00003
|
|
NM_003073.5(SMARCB1):c.750G>A (p.Thr250=)
|
rs1049144154
|
0.00003
|
|
NM_003073.5(SMARCB1):c.755G>A (p.Ser252Asn)
|
rs372924301
|
0.00003
|
|
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=)
|
rs187488637
|
0.00003
|
|
NM_003073.5(SMARCB1):c.1098C>T (p.Arg366=)
|
rs562018506
|
0.00002
|
|
NM_003073.5(SMARCB1):c.1119-17C>T
|
rs573325434
|
0.00002
|
|
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met)
|
rs1387467529
|
0.00002
|
|
NM_003073.5(SMARCB1):c.237C>T (p.His79=)
|
rs200394488
|
0.00002
|
|
NM_003073.5(SMARCB1):c.27C>T (p.Thr9=)
|
rs776259216
|
0.00002
|
|
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)
|
rs145695677
|
0.00002
|
|
NM_003073.5(SMARCB1):c.374C>G (p.Ala125Gly)
|
rs1029942798
|
0.00002
|
|
NM_003073.5(SMARCB1):c.500+10C>T
|
rs773391973
|
0.00002
|
|
NM_003073.5(SMARCB1):c.500+20C>T
|
rs1326454227
|
0.00002
|
|
NM_003073.5(SMARCB1):c.528C>A (p.Ile176=)
|
rs1031967752
|
0.00002
|
|
NM_003073.5(SMARCB1):c.582G>A (p.Glu194=)
|
rs759241720
|
0.00002
|
|
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)
|
rs762962010
|
0.00002
|
|
NM_003073.5(SMARCB1):c.628+14G>A
|
rs34761606
|
0.00002
|
|
NM_003073.5(SMARCB1):c.64G>A (p.Asp22Asn)
|
rs1417899723
|
0.00002
|
|
NM_003073.5(SMARCB1):c.672C>T (p.Asp224=)
|
rs748952582
|
0.00002
|
|
NM_003073.5(SMARCB1):c.690G>A (p.Pro230=)
|
rs761800288
|
0.00002
|
|
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met)
|
rs751957685
|
0.00002
|
|
NM_003073.5(SMARCB1):c.796-4T>G
|
rs1030998446
|
0.00002
|
|
NM_003073.5(SMARCB1):c.867A>G (p.Ser289=)
|
rs1401472509
|
0.00002
|
|
NM_003073.5(SMARCB1):c.987-20A>G
|
rs1199235393
|
0.00002
|
|
NM_003073.5(SMARCB1):c.1017C>T (p.Ala339=)
|
rs1397141146
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1022G>A (p.Arg341Gln)
|
rs748441485
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1028C>T (p.Thr343Met)
|
rs773457718
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1029G>A (p.Thr343=)
|
rs761056928
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1033G>A (p.Asp345Asn)
|
rs794727911
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1038G>A (p.Ala346=)
|
rs777241431
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1074C>T (p.Asp358=)
|
rs1205121674
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1095C>A (p.Ile365=)
|
rs1601445449
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1115C>T (p.Thr372Met)
|
rs992198711
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1118+5C>T
|
rs1390668754
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1118+6C>G
|
rs200675113
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1119-13A>G
|
rs1057523208
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1119-19C>T
|
rs770226620
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1119-8T>A
|
rs763490706
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His)
|
rs387906812
|
0.00001
|
|
NM_003073.5(SMARCB1):c.1143G>A (p.Thr381=)
|
rs750187119
|
0.00001
|
|
NM_003073.5(SMARCB1):c.117C>T (p.Phe39=)
|
rs757517233
|
0.00001
|
|
NM_003073.5(SMARCB1):c.11T>C (p.Met4Thr)
|
rs371477865
|
0.00001
|
|
NM_003073.5(SMARCB1):c.166A>T (p.Thr56Ser)
|
rs1568936098
|
0.00001
|
|
NM_003073.5(SMARCB1):c.18G>T (p.Leu6=)
|
rs1381647379
|
0.00001
|
|
NM_003073.5(SMARCB1):c.198G>A (p.Ser66=)
|
rs768360679
|
0.00001
|
|
NM_003073.5(SMARCB1):c.232+10C>T
|
rs771902726
|
0.00001
|
|
NM_003073.5(SMARCB1):c.233-14T>C
|
rs1397646576
|
0.00001
|
|
NM_003073.5(SMARCB1):c.240A>G (p.Gly80=)
|
rs1363642431
|
0.00001
|
|
NM_003073.5(SMARCB1):c.279C>T (p.Ala93=)
|
rs770856466
|
0.00001
|
|
NM_003073.5(SMARCB1):c.281C>T (p.Ser94Leu)
|
rs1223772419
|
0.00001
|
|
NM_003073.5(SMARCB1):c.300G>A (p.Leu100=)
|
rs768661574
|
0.00001
|
|
NM_003073.5(SMARCB1):c.30C>T (p.Phe10=)
|
rs1247300129
|
0.00001
|
|
NM_003073.5(SMARCB1):c.340A>C (p.Thr114Pro)
|
rs750822703
|
0.00001
|
|
NM_003073.5(SMARCB1):c.358C>T (p.Leu120Phe)
|
rs754350320
|
0.00001
|
|
NM_003073.5(SMARCB1):c.362+20G>T
|
rs1383073771
|
0.00001
|
|
NM_003073.5(SMARCB1):c.362+8G>A
|
rs727504162
|
0.00001
|
|
NM_003073.5(SMARCB1):c.363-5C>A
|
rs1451505032
|
0.00001
|
|
NM_003073.5(SMARCB1):c.366A>T (p.Glu122Asp)
|
rs1060503018
|
0.00001
|
|
NM_003073.5(SMARCB1):c.42C>T (p.Pro14=)
|
rs1285048687
|
0.00001
|
|
NM_003073.5(SMARCB1):c.447A>G (p.Thr149=)
|
rs780907377
|
0.00001
|
|
NM_003073.5(SMARCB1):c.463C>T (p.Arg155Cys)
|
rs1458920579
|
0.00001
|
|
NM_003073.5(SMARCB1):c.492C>T (p.Phe164=)
|
rs780005225
|
0.00001
|
|
NM_003073.5(SMARCB1):c.500+13C>T
|
rs374538240
|
0.00001
|
|
NM_003073.5(SMARCB1):c.500+15C>T
|
rs771167929
|
0.00001
|
|
NM_003073.5(SMARCB1):c.500+6G>C
|
rs772329556
|
0.00001
|
|
NM_003073.5(SMARCB1):c.501-8A>G
|
rs1428797312
|
0.00001
|
|
NM_003073.5(SMARCB1):c.510C>T (p.Asp170=)
|
rs762656012
|
0.00001
|
|
NM_003073.5(SMARCB1):c.520G>T (p.Ala174Ser)
|
rs746433763
|
0.00001
|
|
NM_003073.5(SMARCB1):c.549C>T (p.Pro183=)
|
rs141579402
|
0.00001
|
|
NM_003073.5(SMARCB1):c.550G>A (p.Glu184Lys)
|
rs776374083
|
0.00001
|
|
NM_003073.5(SMARCB1):c.553G>A (p.Val185Met)
|
rs1251083217
|
0.00001
|
|
NM_003073.5(SMARCB1):c.606C>T (p.Asp202=)
|
rs727504163
|
0.00001
|
|
NM_003073.5(SMARCB1):c.620A>G (p.Asn207Ser)
|
rs763872301
|
0.00001
|
|
NM_003073.5(SMARCB1):c.628+4C>T
|
rs373375336
|
0.00001
|
|
NM_003073.5(SMARCB1):c.629-14T>C
|
rs1207037695
|
0.00001
|
|
NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met)
|
rs776693680
|
0.00001
|
|
NM_003073.5(SMARCB1):c.69C>G (p.Gly23=)
|
rs769604673
|
0.00001
|
|
NM_003073.5(SMARCB1):c.711C>T (p.Ile237=)
|
rs1178245388
|
0.00001
|
|
NM_003073.5(SMARCB1):c.743A>G (p.Tyr248Cys)
|
rs1444281296
|
0.00001
|
|
NM_003073.5(SMARCB1):c.744C>T (p.Tyr248=)
|
rs994927607
|
0.00001
|
|
NM_003073.5(SMARCB1):c.767A>G (p.Asp256Gly)
|
rs749976156
|
0.00001
|
|
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys)
|
rs1368176286
|
0.00001
|
|
NM_003073.5(SMARCB1):c.78C>T (p.Tyr26=)
|
rs374962941
|
0.00001
|
|
NM_003073.5(SMARCB1):c.790A>G (p.Ile264Val)
|
rs887245809
|
0.00001
|
|
NM_003073.5(SMARCB1):c.795+8A>G
|
rs554388941
|
0.00001
|
|
NM_003073.5(SMARCB1):c.798G>A (p.Leu266=)
|
rs2030317523
|
0.00001
|
|
NM_003073.5(SMARCB1):c.822C>G (p.Ser274=)
|
rs1386414055
|
0.00001
|
|
NM_003073.5(SMARCB1):c.840G>A (p.Glu280=)
|
rs753334172
|
0.00001
|
|
NM_003073.5(SMARCB1):c.852A>G (p.Ser284=)
|
rs138735048
|
0.00001
|
|
NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn)
|
rs769322487
|
0.00001
|
|
NM_003073.5(SMARCB1):c.896C>T (p.Ser299Leu)
|
rs1362758319
|
0.00001
|
|
NM_003073.5(SMARCB1):c.901C>T (p.Leu301=)
|
rs1184401758
|
0.00001
|
|
NM_003073.5(SMARCB1):c.924C>T (p.Val308=)
|
rs770886017
|
0.00001
|
|
NM_003073.5(SMARCB1):c.93+12C>G
|
rs1162070583
|
0.00001
|
|
NM_003073.5(SMARCB1):c.93+14C>T
|
rs1362943635
|
0.00001
|
|
NM_003073.5(SMARCB1):c.93+20C>T
|
rs1382842452
|
0.00001
|
|
NM_003073.5(SMARCB1):c.934G>A (p.Ala312Thr)
|
rs749348930
|
0.00001
|
|
NM_003073.5(SMARCB1):c.946C>T (p.Arg316Trp)
|
rs769023941
|
0.00001
|
|
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln)
|
rs2030327999
|
0.00001
|
|
NM_003073.5(SMARCB1):c.986+3A>G
|
rs1601433601
|
0.00001
|
|
NM_003073.5(SMARCB1):c.986+6A>T
|
rs2030331707
|
0.00001
|
|
NM_003073.5(SMARCB1):c.987-18T>C
|
rs746759459
|
0.00001
|
|
GRCh37/hg19 22q11.23(chr22:24129005-24133570)x0
|
|
|
|
NC_000022.10:g.(?_24129347)_(24176377_?)dup
|
|
|
|
NC_000022.10:g.(?_24129357)_(24130008_?)dup
|
|
|
|
NC_000022.10:g.(?_24129357)_(24145619_?)dup
|
|
|
|
NC_000022.10:g.(?_24129357)_(24167612_?)dup
|
|
|
|
NC_000022.10:g.(?_24129361)_24282899dup
|
|
|
|
NC_000022.10:g.(?_24130008)_(24176449_?)dup
|
|
|
|
NC_000022.10:g.(?_24133933)_(24176367_?)dup
|
|
|
|
NC_000022.10:g.(?_24133933)_(24176377_?)dup
|
|
|
|
NC_000022.10:g.(?_24135736)_(24135885_?)del
|
|
|
|
NC_000022.10:g.(?_24143121)_(24145619_?)del
|
|
|
|
NC_000022.10:g.(?_24143121)_(24145619_?)dup
|
|
|
|
NC_000022.10:g.(?_24143121)_(24176377_?)dup
|
|
|
|
NC_000022.10:g.(?_24143121)_(24176449_?)dup
|
|
|
|
NC_000022.10:g.(?_24158947)_(24176449_?)del
|
|
|
|
NC_000022.10:g.(?_24175749)_(24176377_?)dup
|
|
|
|
NC_000022.10:g.(?_24175753)_(24176372_?)dup
|
|
|
|
NC_000022.11:g.(?_23787160)_(23787272_?)del
|
|
|
|
NC_000022.11:g.(?_23787160)_(23803432_?)dup
|
|
|
|
NC_000022.11:g.(?_23787160)_(23825425_?)dup
|
|
|
|
NC_000022.11:g.(?_23787160)_(23834190_?)del
|
|
|
|
NC_000022.11:g.(?_23787170)_(23834262_?)del
|
|
|
|
NC_000022.11:g.(?_23787170)_(23834262_?)dup
|
|
|
|
NC_000022.11:g.(?_23793553)_(23793694_?)del
|
|
|
|
NC_000022.11:g.(?_23816760)_(23816946_?)dup
|
|
|
|
NC_000022.11:g.(?_23816760)_(23834262_?)dup
|
|
|
|
NC_000022.11:g.(?_23825215)_(23825425_?)del
|
|
|
|
NM_003073.3(SMARCB1):c.-427C>T
|
rs6003880
|
|
|
NM_003073.5(SMARCB1):c.*116dup
|
rs397897183
|
|
|
NM_003073.5(SMARCB1):c.*314CAGGTCATGTTCAATTTCTTCAA[3]
|
rs5030614
|
|
|
NM_003073.5(SMARCB1):c.*314CAGGTCATGTTCAATTTCTTCAA[4]
|
|
|
|
NM_003073.5(SMARCB1):c.*6C>T
|
|
|
|
NM_003073.5(SMARCB1):c.*75_*86del
|
|
|
|
NM_003073.5(SMARCB1):c.*82C>G
|
rs878854600
|
|
|
NM_003073.5(SMARCB1):c.*82C>T
|
rs878854600
|
|
|
NM_003073.5(SMARCB1):c.-1_2del (p.Met4del)
|
|
|
|
NM_003073.5(SMARCB1):c.-4C>T
|
|
|
|
NM_003073.5(SMARCB1):c.1002C>T (p.Pro334=)
|
rs908371998
|
|
|
NM_003073.5(SMARCB1):c.1005A>C (p.Thr335=)
|
|
|
|
NM_003073.5(SMARCB1):c.1008G>A (p.Val336=)
|
|
|
|
NM_003073.5(SMARCB1):c.1011G>T (p.Glu337Asp)
|
|
|
|
NM_003073.5(SMARCB1):c.1012A>C (p.Ile338Leu)
|
rs2146041824
|
|
|
NM_003073.5(SMARCB1):c.1012A>G (p.Ile338Val)
|
|
|
|
NM_003073.5(SMARCB1):c.1013T>C (p.Ile338Thr)
|
rs2146041839
|
|
|
NM_003073.5(SMARCB1):c.1018A>G (p.Ile340Val)
|
|
|
|
NM_003073.5(SMARCB1):c.101A>G (p.Asn34Ser)
|
rs2145959891
|
|
|
NM_003073.5(SMARCB1):c.1020C>G (p.Ile340Met)
|
|
|
|
NM_003073.5(SMARCB1):c.1021C>T (p.Arg341Trp)
|
|
|
|
NM_003073.5(SMARCB1):c.1025A>G (p.Asn342Ser)
|
rs2146041993
|
|
|
NM_003073.5(SMARCB1):c.1029G>T (p.Thr343=)
|
rs761056928
|
|
|
NM_003073.5(SMARCB1):c.102C>T (p.Asn34=)
|
|
|
|
NM_003073.5(SMARCB1):c.1033G>T (p.Asp345Tyr)
|
rs794727911
|
|
|
NM_003073.5(SMARCB1):c.1035T>C (p.Asp345=)
|
rs1311972935
|
|
|
NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val)
|
rs1231539032
|
|
|
NM_003073.5(SMARCB1):c.103_105del (p.Tyr35del)
|
|
|
|
NM_003073.5(SMARCB1):c.1042C>G (p.Gln348Glu)
|
|
|
|
NM_003073.5(SMARCB1):c.104_115del (p.Tyr35_Met38del)
|
rs1928395725
|
|
|
NM_003073.5(SMARCB1):c.1052C>T (p.Pro351Leu)
|
rs2030790017
|
|
|
NM_003073.5(SMARCB1):c.1052dup (p.Leu352fs)
|
rs2030789446
|
|
|
NM_003073.5(SMARCB1):c.1059G>A (p.Leu353=)
|
rs1568962989
|
|
|
NM_003073.5(SMARCB1):c.1062G>A (p.Glu354=)
|
|
|
|
NM_003073.5(SMARCB1):c.1066_1067del (p.Leu356fs)
|
rs1555881563
|
|
|
NM_003073.5(SMARCB1):c.106C>T (p.Leu36Phe)
|
rs2145959920
|
|
|
NM_003073.5(SMARCB1):c.1070C>T (p.Thr357Ile)
|
rs1555881567
|
|
|
NM_003073.5(SMARCB1):c.1077T>C (p.Ala359=)
|
|
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
|
NM_003073.5(SMARCB1):c.1086G>A (p.Glu362=)
|
rs2146042601
|
|
|
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)
|
rs797045989
|
|
|
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)
|
rs1568963037
|
|
|
NM_003073.5(SMARCB1):c.1091A>T (p.Lys364Met)
|
rs2030793132
|
|
|
NM_003073.5(SMARCB1):c.1092G>T (p.Lys364Asn)
|
|
|
|
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys)
|
rs886039520
|
|
|
NM_003073.5(SMARCB1):c.1097G>A (p.Arg366His)
|
rs1555881572
|
|
|
NM_003073.5(SMARCB1):c.1099G>C (p.Asp367His)
|
rs2030794083
|
|
|
NM_003073.5(SMARCB1):c.10A>T (p.Met4Leu)
|
|
|
|
NM_003073.5(SMARCB1):c.1107C>T (p.Asp369=)
|
rs770611444
|
|
|
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)
|
rs398122368
|
|
|
NM_003073.5(SMARCB1):c.1113C>T (p.Asn371=)
|
|
|
|
NM_003073.5(SMARCB1):c.1118+10G>A
|
rs2146042940
|
|
|
NM_003073.5(SMARCB1):c.1118+163G>T
|
rs17003998
|
|
|
NM_003073.5(SMARCB1):c.1118+1G>A
|
rs1555881586
|
|
|
NM_003073.5(SMARCB1):c.1118+4C>A
|
rs374197835
|
|
|
NM_003073.5(SMARCB1):c.1118+4C>G
|
rs374197835
|
|
|
NM_003073.5(SMARCB1):c.1118+9G>T
|
|
|
|
NM_003073.5(SMARCB1):c.1119-11T>C
|
|
|
|
NM_003073.5(SMARCB1):c.1119-12C>G
|
rs1295969050
|
|
|
NM_003073.5(SMARCB1):c.1119-12C>T
|
|
|
|
NM_003073.5(SMARCB1):c.1119-14C>A
|
|
|
|
NM_003073.5(SMARCB1):c.1119-14C>G
|
|
|
|
NM_003073.5(SMARCB1):c.1119-14C>T
|
rs376715644
|
|
|
NM_003073.5(SMARCB1):c.1119-7C>G
|
rs2146044811
|
|
|
NM_003073.5(SMARCB1):c.1119-7C>T
|
rs2146044811
|
|
|
NM_003073.5(SMARCB1):c.1119-7_1119-6del
|
|
|
|
NM_003073.5(SMARCB1):c.1119-82del
|
rs34107335
|
|
|
NM_003073.5(SMARCB1):c.1120C>A (p.Arg374=)
|
rs1568963596
|
|
|
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp)
|
rs1568963596
|
|
|
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)
|
rs1057517825
|
|
|
NM_003073.5(SMARCB1):c.1128G>A (p.Arg376=)
|
|
|
|
NM_003073.5(SMARCB1):c.1132C>T (p.Leu378Phe)
|
rs2030838981
|
|
|
NM_003073.5(SMARCB1):c.1133T>C (p.Leu378Pro)
|
rs1410970733
|
|
|
NM_003073.5(SMARCB1):c.1140C>T (p.Asn380=)
|
|
|
|
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg)
|
rs1387467529
|
|
|
NM_003073.5(SMARCB1):c.1143G>C (p.Thr381=)
|
rs750187119
|
|
|
NM_003073.5(SMARCB1):c.1145C>T (p.Ala382Val)
|
rs756129754
|
|
|
NM_003073.5(SMARCB1):c.1146C>T (p.Ala382=)
|
|
|
|
NM_003073.5(SMARCB1):c.1148C>T (p.Pro383Leu)
|
|
|
|
NM_003073.5(SMARCB1):c.1148del (p.Pro383fs)
|
rs2146045204
|
|
|
NM_003073.5(SMARCB1):c.1149G>A (p.Pro383=)
|
rs780103418
|
|
|
NM_003073.5(SMARCB1):c.1155G>C (p.Trp385Cys)
|
rs2030841425
|
|
|
NM_003073.5(SMARCB1):c.1155G>T (p.Trp385Cys)
|
rs2030841425
|
|
|
NM_003073.5(SMARCB1):c.118C>T (p.Arg40Ter)
|
rs1060503015
|
|
|
NM_003073.5(SMARCB1):c.119G>A (p.Arg40Gln)
|
rs1928397102
|
|
|
NM_003073.5(SMARCB1):c.128T>G (p.Leu43Arg)
|
rs1928397303
|
|
|
NM_003073.5(SMARCB1):c.137_140dup (p.Tyr47Ter)
|
rs1555875892
|
|
|
NM_003073.5(SMARCB1):c.13G>C (p.Ala5Pro)
|
rs1928040877
|
|
|
NM_003073.5(SMARCB1):c.13G>T (p.Ala5Ser)
|
|
|
|
NM_003073.5(SMARCB1):c.141C>A (p.Tyr47Ter)
|
rs1601388576
|
|
|
NM_003073.5(SMARCB1):c.141C>T (p.Tyr47=)
|
rs1601388576
|
|
|
NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu)
|
rs387906811
|
|
|
NM_003073.5(SMARCB1):c.144C>T (p.Pro48=)
|
rs2145960150
|
|
|
NM_003073.5(SMARCB1):c.146C>T (p.Ser49Leu)
|
|
|
|
NM_003073.5(SMARCB1):c.147dup (p.Leu50fs)
|
|
|
|
NM_003073.5(SMARCB1):c.148C>G (p.Leu50Val)
|
|
|
|
NM_003073.5(SMARCB1):c.14C>T (p.Ala5Val)
|
rs1568933235
|
|
|
NM_003073.5(SMARCB1):c.150C>G (p.Leu50=)
|
rs756689642
|
|
|
NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter)
|
rs1060503016
|
|
|
NM_003073.5(SMARCB1):c.153G>A (p.Trp51Ter)
|
rs2145960213
|
|
|
NM_003073.5(SMARCB1):c.153G>C (p.Trp51Cys)
|
rs2145960213
|
|
|
NM_003073.5(SMARCB1):c.157C>T (p.Arg53Ter)
|
rs1928400256
|
|
|
NM_003073.5(SMARCB1):c.158G>A (p.Arg53Gln)
|
|
|
|
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)
|
rs779769475
|
|
|
NM_003073.5(SMARCB1):c.159A>G (p.Arg53=)
|
|
|
|
NM_003073.5(SMARCB1):c.159_160delinsTATCTGGAGGCG (p.Leu54fs)
|
rs1928400754
|
|
|
NM_003073.5(SMARCB1):c.15G>T (p.Ala5=)
|
rs747587445
|
|
|
NM_003073.5(SMARCB1):c.162A>G (p.Leu54=)
|
rs1601388633
|
|
|
NM_003073.5(SMARCB1):c.165C>A (p.Ala55=)
|
rs2145960293
|
|
|
NM_003073.5(SMARCB1):c.169G>A (p.Val57Met)
|
rs922052006
|
|
|
NM_003073.5(SMARCB1):c.170T>C (p.Val57Ala)
|
|
|
|
NM_003073.5(SMARCB1):c.171G>A (p.Val57=)
|
rs2145960327
|
|
|
NM_003073.5(SMARCB1):c.180G>A (p.Arg60=)
|
rs2145960388
|
|
|
NM_003073.5(SMARCB1):c.185A>T (p.Lys62Ile)
|
rs1928402357
|
|
|
NM_003073.5(SMARCB1):c.192T>C (p.Val64=)
|
|
|
|
NM_003073.5(SMARCB1):c.193G>T (p.Ala65Ser)
|
rs1555875920
|
|
|
NM_003073.5(SMARCB1):c.195A>G (p.Ala65=)
|
rs748690005
|
|
|
NM_003073.5(SMARCB1):c.196T>G (p.Ser66Ala)
|
rs1601388691
|
|
|
NM_003073.5(SMARCB1):c.197C>T (p.Ser66Leu)
|
|
|
|
NM_003073.5(SMARCB1):c.1A>C (p.Met1Leu)
|
|
|
|
NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del)
|
rs769579890
|
|
|
NM_003073.5(SMARCB1):c.202C>T (p.His68Tyr)
|
|
|
|
NM_003073.5(SMARCB1):c.203A>T (p.His68Leu)
|
rs1928403840
|
|
|
NM_003073.5(SMARCB1):c.205G>A (p.Gly69Ser)
|
rs2145960551
|
|
|
NM_003073.5(SMARCB1):c.20G>A (p.Ser7Asn)
|
rs1928042033
|
|
|
NM_003073.5(SMARCB1):c.210A>G (p.Lys70=)
|
|
|
|
NM_003073.5(SMARCB1):c.213A>C (p.Lys71Asn)
|
|
|
|
NM_003073.5(SMARCB1):c.214del (p.Thr72fs)
|
|
|
|
NM_003073.5(SMARCB1):c.214dup (p.Thr72fs)
|
|
|
|
NM_003073.5(SMARCB1):c.219A>G (p.Lys73=)
|
|
|
|
NM_003073.5(SMARCB1):c.21C>T (p.Ser7=)
|
rs771334931
|
|
|
NM_003073.5(SMARCB1):c.223A>G (p.Asn75Asp)
|
rs2145960610
|
|
|
NM_003073.5(SMARCB1):c.225C>T (p.Asn75=)
|
|
|
|
NM_003073.5(SMARCB1):c.226A>G (p.Thr76Ala)
|
rs2145960619
|
|
|
NM_003073.5(SMARCB1):c.227C>G (p.Thr76Ser)
|
rs2145960632
|
|
|
NM_003073.5(SMARCB1):c.22A>G (p.Lys8Glu)
|
rs2145951968
|
|
|
NM_003073.5(SMARCB1):c.232+19T>G
|
rs2145960748
|
|
|
NM_003073.5(SMARCB1):c.232+1G>A
|
rs1928405533
|
|
|
NM_003073.5(SMARCB1):c.232+4C>T
|
|
|
|
NM_003073.5(SMARCB1):c.232+5G>A
|
rs1555875932
|
|
|
NM_003073.5(SMARCB1):c.232+7C>T
|
rs2145960696
|
|
|
NM_003073.5(SMARCB1):c.232G>A (p.Asp78Asn)
|
|
|
|
NM_003073.5(SMARCB1):c.233-13_233-10del
|
rs2145963510
|
|
|
NM_003073.5(SMARCB1):c.233-15G>A
|
|
|
|
NM_003073.5(SMARCB1):c.233-16T>C
|
|
|
|
NM_003073.5(SMARCB1):c.233-19T>C
|
|
|
|
NM_003073.5(SMARCB1):c.233-2A>G
|
rs1568937087
|
|
|
NM_003073.5(SMARCB1):c.233-3C>T
|
rs2145963581
|
|
|
NM_003073.5(SMARCB1):c.233-43A>T
|
rs201689575
|
|
|
NM_003073.5(SMARCB1):c.233-4A>G
|
|
|
|
NM_003073.5(SMARCB1):c.233-4dup
|
|
|
|
NM_003073.5(SMARCB1):c.233-5del
|
rs1928537133
|
|
|
NM_003073.5(SMARCB1):c.233-7G>C
|
rs2145963549
|
|
|
NM_003073.5(SMARCB1):c.233-7G>T
|
|
|
|
NM_003073.5(SMARCB1):c.233-9_233-6del
|
rs1928536961
|
|
|
NM_003073.5(SMARCB1):c.233A>G (p.Asp78Gly)
|
|
|
|
NM_003073.5(SMARCB1):c.238G>A (p.Gly80Arg)
|
|
|
|
NM_003073.5(SMARCB1):c.242A>G (p.Tyr81Cys)
|
rs2145963676
|
|
|
NM_003073.5(SMARCB1):c.244A>C (p.Thr82Pro)
|
rs1053189632
|
|
|
NM_003073.5(SMARCB1):c.244A>G (p.Thr82Ala)
|
rs1053189632
|
|
|
NM_003073.5(SMARCB1):c.245C>T (p.Thr82Met)
|
rs1928538526
|
|
|
NM_003073.5(SMARCB1):c.246G>A (p.Thr82=)
|
rs367881615
|
|
|
NM_003073.5(SMARCB1):c.24G>A (p.Lys8=)
|
rs2145951974
|
|
|
NM_003073.5(SMARCB1):c.257C>A (p.Thr86Asn)
|
rs747794500
|
|
|
NM_003073.5(SMARCB1):c.260G>A (p.Ser87Asn)
|
|
|
|
NM_003073.5(SMARCB1):c.261T>C (p.Ser87=)
|
rs2145963809
|
|
|
NM_003073.5(SMARCB1):c.262G>T (p.Val88Leu)
|
rs1601391025
|
|
|
NM_003073.5(SMARCB1):c.264G>A (p.Val88=)
|
|
|
|
NM_003073.5(SMARCB1):c.267C>A (p.Thr89=)
|
|
|
|
NM_003073.5(SMARCB1):c.268del (p.Leu90fs)
|
rs1928539937
|
|
|
NM_003073.5(SMARCB1):c.277G>A (p.Ala93Thr)
|
rs2145963919
|
|
|
NM_003073.5(SMARCB1):c.278C>T (p.Ala93Val)
|
rs2145963921
|
|
|
NM_003073.5(SMARCB1):c.27C>G (p.Thr9=)
|
rs776259216
|
|
|
NM_003073.5(SMARCB1):c.282G>C (p.Ser94=)
|
rs149773283
|
|
|
NM_003073.5(SMARCB1):c.283G>A (p.Glu95Lys)
|
rs2145963960
|
|
|
NM_003073.5(SMARCB1):c.284A>G (p.Glu95Gly)
|
rs1568937129
|
|
|
NM_003073.5(SMARCB1):c.286G>A (p.Val96Met)
|
|
|
|
NM_003073.5(SMARCB1):c.291A>G (p.Glu97=)
|
|
|
|
NM_003073.5(SMARCB1):c.294G>A (p.Glu98=)
|
rs1928541984
|
|
|
NM_003073.5(SMARCB1):c.301G>A (p.Asp101Asn)
|
rs774488493
|
|
|
NM_003073.5(SMARCB1):c.301G>C (p.Asp101His)
|
rs774488493
|
|
|
NM_003073.5(SMARCB1):c.301G>T (p.Asp101Tyr)
|
rs774488493
|
|
|
NM_003073.5(SMARCB1):c.302A>G (p.Asp101Gly)
|
rs762188226
|
|
|
NM_003073.5(SMARCB1):c.307A>C (p.Asn103His)
|
rs2145964114
|
|
|
NM_003073.5(SMARCB1):c.308A>G (p.Asn103Ser)
|
rs1928543301
|
|
|
NM_003073.5(SMARCB1):c.311A>C (p.Asp104Ala)
|
rs2145964151
|
|
|
NM_003073.5(SMARCB1):c.314A>G (p.Glu105Gly)
|
rs2145964182
|
|
|
NM_003073.5(SMARCB1):c.315G>A (p.Glu105=)
|
rs2145964188
|
|
|
NM_003073.5(SMARCB1):c.31G>A (p.Gly11Arg)
|
rs1555875308
|
|
|
NM_003073.5(SMARCB1):c.321C>T (p.Tyr107=)
|
|
|
|
NM_003073.5(SMARCB1):c.323A>G (p.Lys108Arg)
|
|
|
|
NM_003073.5(SMARCB1):c.324G>A (p.Lys108=)
|
|
|
|
NM_003073.5(SMARCB1):c.327T>C (p.Ala109=)
|
rs1445015081
|
|
|
NM_003073.5(SMARCB1):c.329T>C (p.Val110Ala)
|
rs1601391157
|
|
|
NM_003073.5(SMARCB1):c.332C>G (p.Ser111Cys)
|
|
|
|
NM_003073.5(SMARCB1):c.333C>T (p.Ser111=)
|
rs1601391182
|
|
|
NM_003073.5(SMARCB1):c.334A>G (p.Ile112Val)
|
rs1928546194
|
|
|
NM_003073.5(SMARCB1):c.340A>G (p.Thr114Ala)
|
rs750822703
|
|
|
NM_003073.5(SMARCB1):c.345G>A (p.Glu115=)
|
|
|
|
NM_003073.5(SMARCB1):c.346C>A (p.Pro116Thr)
|
rs1928547553
|
|
|
NM_003073.5(SMARCB1):c.347C>A (p.Pro116His)
|
|
|
|
NM_003073.5(SMARCB1):c.347C>T (p.Pro116Leu)
|
|
|
|
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)
|
rs74315513
|
|
|
NM_003073.5(SMARCB1):c.351C>A (p.Pro117=)
|
rs2145964502
|
|
|
NM_003073.5(SMARCB1):c.352A>C (p.Thr118Pro)
|
rs761082514
|
|
|
NM_003073.5(SMARCB1):c.35A>G (p.Gln12Arg)
|
|
|
|
NM_003073.5(SMARCB1):c.360C>A (p.Leu120=)
|
|
|
|
NM_003073.5(SMARCB1):c.360C>G (p.Leu120=)
|
rs1318939222
|
|
|
NM_003073.5(SMARCB1):c.360C>T (p.Leu120=)
|
|
|
|
NM_003073.5(SMARCB1):c.362+109_362+110dup
|
rs11413092
|
|
|
NM_003073.5(SMARCB1):c.362+110dup
|
rs11413092
|
|
|
NM_003073.5(SMARCB1):c.362+11C>T
|
rs1928551445
|
|
|
NM_003073.5(SMARCB1):c.362+17C>T
|
|
|
|
NM_003073.5(SMARCB1):c.362+1G>A
|
rs1568937197
|
|
|
NM_003073.5(SMARCB1):c.362+1G>C
|
rs1568937197
|
|
|
NM_003073.5(SMARCB1):c.362+302G>C
|
rs34458243
|
|
|
NM_003073.5(SMARCB1):c.362+6G>A
|
|
|
|
NM_003073.5(SMARCB1):c.363-10A>G
|
rs2145977940
|
|
|
NM_003073.5(SMARCB1):c.363-12G>A
|
rs766691500
|
|
|
NM_003073.5(SMARCB1):c.363-12G>T
|
rs766691500
|
|
|
NM_003073.5(SMARCB1):c.363-17T>G
|
|
|
|
NM_003073.5(SMARCB1):c.363-18T>A
|
|
|
|
NM_003073.5(SMARCB1):c.363-2A>G
|
|
|
|
NM_003073.5(SMARCB1):c.363-2del
|
rs2145977986
|
|
|
NM_003073.5(SMARCB1):c.363-4T>G
|
|
|
|
NM_003073.5(SMARCB1):c.363-6C>G
|
|
|
|
NM_003073.5(SMARCB1):c.363-6C>T
|
rs1601401778
|
|
|
NM_003073.5(SMARCB1):c.363-8C>T
|
|
|
|
NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter)
|
rs1929106223
|
|
|
NM_003073.5(SMARCB1):c.372G>A (p.Lys124=)
|
rs1929107625
|
|
|
NM_003073.5(SMARCB1):c.374C>T (p.Ala125Val)
|
|
|
|
NM_003073.5(SMARCB1):c.377A>G (p.Lys126Arg)
|
|
|
|
NM_003073.5(SMARCB1):c.386G>C (p.Ser129Thr)
|
|
|
|
NM_003073.5(SMARCB1):c.399C>T (p.Pro133=)
|
rs1555877017
|
|
|
NM_003073.5(SMARCB1):c.39G>A (p.Lys13=)
|
rs2145952009
|
|
|
NM_003073.5(SMARCB1):c.400A>C (p.Thr134Pro)
|
|
|
|
NM_003073.5(SMARCB1):c.403C>G (p.Leu135Val)
|
|
|
|
NM_003073.5(SMARCB1):c.403C>T (p.Leu135=)
|
|
|
|
NM_003073.5(SMARCB1):c.405G>T (p.Leu135=)
|
|
|
|
NM_003073.5(SMARCB1):c.413G>C (p.Ser138Thr)
|
rs1929110548
|
|
|
NM_003073.5(SMARCB1):c.415T>C (p.Ser139Pro)
|
|
|
|
NM_003073.5(SMARCB1):c.417C>T (p.Ser139=)
|
|
|
|
NM_003073.5(SMARCB1):c.41C>A (p.Pro14His)
|
|
|
|
NM_003073.5(SMARCB1):c.420C>T (p.His140=)
|
|
|
|
NM_003073.5(SMARCB1):c.423C>T (p.His141=)
|
rs2145978409
|
|
|
NM_003073.5(SMARCB1):c.42C>G (p.Pro14=)
|
|
|
|
NM_003073.5(SMARCB1):c.432C>A (p.Ala144=)
|
|
|
|
NM_003073.5(SMARCB1):c.432C>T (p.Ala144=)
|
rs1601401868
|
|
|
NM_003073.5(SMARCB1):c.434T>G (p.Val145Gly)
|
rs1601401889
|
|
|
NM_003073.5(SMARCB1):c.43G>A (p.Val15Met)
|
|
|
|
NM_003073.5(SMARCB1):c.440G>A (p.Cys147Tyr)
|
|
|
|
NM_003073.5(SMARCB1):c.441C>T (p.Cys147=)
|
|
|
|
NM_003073.5(SMARCB1):c.444C>G (p.Ser148=)
|
rs138184483
|
|
|
NM_003073.5(SMARCB1):c.447A>C (p.Thr149=)
|
rs780907377
|
|
|
NM_003073.5(SMARCB1):c.448A>G (p.Thr150Ala)
|
rs745619005
|
|
|
NM_003073.5(SMARCB1):c.44T>C (p.Val15Ala)
|
rs1928044034
|
|
|
NM_003073.5(SMARCB1):c.45G>A (p.Val15=)
|
rs759056710
|
|
|
NM_003073.5(SMARCB1):c.461A>G (p.Asn154Ser)
|
rs1057523475
|
|
|
NM_003073.5(SMARCB1):c.463del (p.Arg155fs)
|
|
|
|
NM_003073.5(SMARCB1):c.466A>G (p.Met156Val)
|
rs540120954
|
|
|
NM_003073.5(SMARCB1):c.467T>C (p.Met156Thr)
|
|
|
|
NM_003073.5(SMARCB1):c.469G>T (p.Gly157Cys)
|
rs1568941668
|
|
|
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter)
|
rs2145978723
|
|
|
NM_003073.5(SMARCB1):c.473G>A (p.Arg158Gln)
|
|
|
|
NM_003073.5(SMARCB1):c.473G>T (p.Arg158Leu)
|
rs1232172026
|
|
|
NM_003073.5(SMARCB1):c.488C>G (p.Thr163Ser)
|
rs2145978836
|
|
|
NM_003073.5(SMARCB1):c.489C>T (p.Thr163=)
|
|
|
|
NM_003073.5(SMARCB1):c.489del (p.Phe164fs)
|
|
|
|
NM_003073.5(SMARCB1):c.48G>A (p.Lys16=)
|
rs2145952051
|
|
|
NM_003073.5(SMARCB1):c.492C>A (p.Phe164Leu)
|
rs780005225
|
|
|
NM_003073.5(SMARCB1):c.495C>A (p.Pro165=)
|
|
|
|
NM_003073.5(SMARCB1):c.495C>G (p.Pro165=)
|
rs972863493
|
|
|
NM_003073.5(SMARCB1):c.495C>T (p.Pro165=)
|
rs972863493
|
|
|
NM_003073.5(SMARCB1):c.496del (p.Leu166fs)
|
rs1929117983
|
|
|
NM_003073.5(SMARCB1):c.498T>C (p.Leu166=)
|
rs748263509
|
|
|
NM_003073.5(SMARCB1):c.4A>G (p.Met2Val)
|
rs2145951889
|
|
|
NM_003073.5(SMARCB1):c.500+12T>A
|
|
|
|
NM_003073.5(SMARCB1):c.500+12_500+19del
|
|
|
|
NM_003073.5(SMARCB1):c.500+18C>T
|
|
|
|
NM_003073.5(SMARCB1):c.500+19A>G
|
rs2145979048
|
|
|
NM_003073.5(SMARCB1):c.500+1G>A
|
rs1601402001
|
|
|
NM_003073.5(SMARCB1):c.500+20C>G
|
|
|
|
NM_003073.5(SMARCB1):c.500+2T>C
|
|
|
|
NM_003073.5(SMARCB1):c.500+3G>A
|
rs1601402006
|
|
|
NM_003073.5(SMARCB1):c.500+40C>T
|
|
|
|
NM_003073.5(SMARCB1):c.500+58C>T
|
|
|
|
NM_003073.5(SMARCB1):c.500+7A>G
|
|
|
|
NM_003073.5(SMARCB1):c.500+7A>T
|
rs2145978966
|
|
|
NM_003073.5(SMARCB1):c.500+882C>G
|
|
|
|
NM_003073.5(SMARCB1):c.500+894T>A
|
|
|
|
NM_003073.5(SMARCB1):c.500+9G>A
|
|
|
|
NM_003073.5(SMARCB1):c.501-12T>C
|
|
|
|
NM_003073.5(SMARCB1):c.501-13A>C
|
|
|
|
NM_003073.5(SMARCB1):c.501-13A>G
|
|
|
|
NM_003073.5(SMARCB1):c.501-14C>T
|
rs376765597
|
|
|
NM_003073.5(SMARCB1):c.501-15C>G
|
|
|
|
NM_003073.5(SMARCB1):c.501-17T>A
|
|
|
|
NM_003073.5(SMARCB1):c.501-18C>G
|
rs749679580
|
|
|
NM_003073.5(SMARCB1):c.501-1G>C
|
rs1555877276
|
|
|
NM_003073.5(SMARCB1):c.501-4T>C
|
rs1172856081
|
|
|
NM_003073.5(SMARCB1):c.501-7C>T
|
|
|
|
NM_003073.5(SMARCB1):c.501-9C>T
|
rs2145982632
|
|
|
NM_003073.5(SMARCB1):c.501C>G (p.Cys167Trp)
|
rs779221331
|
|
|
NM_003073.5(SMARCB1):c.501C>T (p.Cys167=)
|
rs779221331
|
|
|
NM_003073.5(SMARCB1):c.502T>C (p.Phe168Leu)
|
|
|
|
NM_003073.5(SMARCB1):c.505G>C (p.Asp169His)
|
|
|
|
NM_003073.5(SMARCB1):c.508G>A (p.Asp170Asn)
|
rs1568943134
|
|
|
NM_003073.5(SMARCB1):c.509A>G (p.Asp170Gly)
|
|
|
|
NM_003073.5(SMARCB1):c.512A>G (p.His171Arg)
|
rs794727718
|
|
|
NM_003073.5(SMARCB1):c.513T>C (p.His171=)
|
|
|
|
NM_003073.5(SMARCB1):c.515A>T (p.Asp172Val)
|
rs2145982695
|
|
|
NM_003073.5(SMARCB1):c.517C>G (p.Pro173Ala)
|
rs772788649
|
|
|
NM_003073.5(SMARCB1):c.517C>T (p.Pro173Ser)
|
|
|
|
NM_003073.5(SMARCB1):c.519A>G (p.Pro173=)
|
|
|
|
NM_003073.5(SMARCB1):c.526A>C (p.Ile176Leu)
|
rs1929285188
|
|
|
NM_003073.5(SMARCB1):c.526A>G (p.Ile176Val)
|
|
|
|
NM_003073.5(SMARCB1):c.528C>T (p.Ile176=)
|
|
|
|
NM_003073.5(SMARCB1):c.52C>T (p.Gln18Ter)
|
rs1928044707
|
|
|
NM_003073.5(SMARCB1):c.531T>C (p.His177=)
|
rs1601404974
|
|
|
NM_003073.5(SMARCB1):c.536_542del (p.Asn179fs)
|
|
|
|
NM_003073.5(SMARCB1):c.537C>A (p.Asn179Lys)
|
|
|
|
NM_003073.5(SMARCB1):c.538G>A (p.Ala180Thr)
|
rs1568943183
|
|
|
NM_003073.5(SMARCB1):c.538G>T (p.Ala180Ser)
|
|
|
|
NM_003073.5(SMARCB1):c.539C>T (p.Ala180Val)
|
rs1555877280
|
|
|
NM_003073.5(SMARCB1):c.540A>G (p.Ala180=)
|
rs1295919219
|
|
|
NM_003073.5(SMARCB1):c.546G>T (p.Gln182His)
|
rs1929287151
|
|
|
NM_003073.5(SMARCB1):c.547C>T (p.Pro183Ser)
|
|
|
|
NM_003073.5(SMARCB1):c.54G>C (p.Gln18His)
|
rs1220062951
|
|
|
NM_003073.5(SMARCB1):c.552G>A (p.Glu184=)
|
rs2145982835
|
|
|
NM_003073.5(SMARCB1):c.552G>T (p.Glu184Asp)
|
rs2145982835
|
|
|
NM_003073.5(SMARCB1):c.555G>A (p.Val185=)
|
rs2145982846
|
|
|
NM_003073.5(SMARCB1):c.557T>C (p.Leu186Pro)
|
rs1601405018
|
|
|
NM_003073.5(SMARCB1):c.558G>A (p.Leu186=)
|
|
|
|
NM_003073.5(SMARCB1):c.558G>C (p.Leu186=)
|
rs751914353
|
|
|
NM_003073.5(SMARCB1):c.558G>T (p.Leu186=)
|
rs751914353
|
|
|
NM_003073.5(SMARCB1):c.559G>T (p.Val187Phe)
|
rs1568943235
|
|
|
NM_003073.5(SMARCB1):c.55C>T (p.Leu19=)
|
rs977028798
|
|
|
NM_003073.5(SMARCB1):c.561C>A (p.Val187=)
|
|
|
|
NM_003073.5(SMARCB1):c.562C>T (p.Pro188Ser)
|
rs146210466
|
|
|
NM_003073.5(SMARCB1):c.564C>T (p.Pro188=)
|
rs2145982887
|
|
|
NM_003073.5(SMARCB1):c.565A>G (p.Ile189Val)
|
rs1601405054
|
|
|
NM_003073.5(SMARCB1):c.567C>T (p.Ile189=)
|
rs2145982901
|
|
|
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)
|
rs1601405064
|
|
|
NM_003073.5(SMARCB1):c.570G>T (p.Arg190=)
|
rs2145982914
|
|
|
NM_003073.5(SMARCB1):c.576C>T (p.Asp192=)
|
rs1490990033
|
|
|
NM_003073.5(SMARCB1):c.578T>C (p.Met193Thr)
|
|
|
|
NM_003073.5(SMARCB1):c.579G>A (p.Met193Ile)
|
rs1929290030
|
|
|
NM_003073.5(SMARCB1):c.57_74del (p.Glu20_Phe25del)
|
rs2145952071
|
|
|
NM_003073.5(SMARCB1):c.582G>C (p.Glu194Asp)
|
rs759241720
|
|
|
NM_003073.5(SMARCB1):c.583A>T (p.Ile195Phe)
|
rs1929290525
|
|
|
NM_003073.5(SMARCB1):c.585C>A (p.Ile195=)
|
|
|
|
NM_003073.5(SMARCB1):c.585C>G (p.Ile195Met)
|
rs757546528
|
|
|
NM_003073.5(SMARCB1):c.586_587delinsAT (p.Asp196Ile)
|
|
|
|
NM_003073.5(SMARCB1):c.588T>C (p.Asp196=)
|
rs2145982978
|
|
|
NM_003073.5(SMARCB1):c.598C>T (p.Leu200=)
|
|
|
|
NM_003073.5(SMARCB1):c.599T>G (p.Leu200Arg)
|
|
|
|
NM_003073.5(SMARCB1):c.59A>C (p.Glu20Ala)
|
rs2145952083
|
|
|
NM_003073.5(SMARCB1):c.5T>G (p.Met2Arg)
|
|
|
|
NM_003073.5(SMARCB1):c.600G>A (p.Leu200=)
|
rs2145983026
|
|
|
NM_003073.5(SMARCB1):c.601C>T (p.Arg201Ter)
|
rs1555877286
|
|
|
NM_003073.5(SMARCB1):c.609C>T (p.Ala203=)
|
rs1601405156
|
|
|
NM_003073.5(SMARCB1):c.60G>A (p.Glu20=)
|
|
|
|
NM_003073.5(SMARCB1):c.613A>T (p.Thr205Ser)
|
rs1555877290
|
|
|
NM_003073.5(SMARCB1):c.614C>T (p.Thr205Ile)
|
rs2145983068
|
|
|
NM_003073.5(SMARCB1):c.616T>C (p.Trp206Arg)
|
|
|
|
NM_003073.5(SMARCB1):c.61G>A (p.Asp21Asn)
|
rs1601382598
|
|
|
NM_003073.5(SMARCB1):c.622A>G (p.Met208Val)
|
rs1457130071
|
|
|
NM_003073.5(SMARCB1):c.627T>A (p.Asn209Lys)
|
|
|
|
NM_003073.5(SMARCB1):c.628+10A>C
|
|
|
|
NM_003073.5(SMARCB1):c.628+14G>T
|
|
|
|
NM_003073.5(SMARCB1):c.628+17C>T
|
|
|
|
NM_003073.5(SMARCB1):c.628+2T>C
|
|
|
|
NM_003073.5(SMARCB1):c.628+4C>G
|
|
|
|
NM_003073.5(SMARCB1):c.628+5A>C
|
rs1298640170
|
|
|
NM_003073.5(SMARCB1):c.628+7G>A
|
rs766427184
|
|
|
NM_003073.5(SMARCB1):c.629-10C>T
|
|
|
|
NM_003073.5(SMARCB1):c.629-11C>A
|
|
|
|
NM_003073.5(SMARCB1):c.629-126del
|
rs34737764
|
|
|
NM_003073.5(SMARCB1):c.629-12_629-11del
|
|
|
|
NM_003073.5(SMARCB1):c.629-13C>T
|
rs2146009187
|
|
|
NM_003073.5(SMARCB1):c.629-15C>T
|
|
|
|
NM_003073.5(SMARCB1):c.629-18T>A
|
rs2146009165
|
|
|
NM_003073.5(SMARCB1):c.629-20C>G
|
rs2146009157
|
|
|
NM_003073.5(SMARCB1):c.629-3C>T
|
|
|
|
NM_003073.5(SMARCB1):c.629-8G>C
|
|
|
|
NM_003073.5(SMARCB1):c.62A>G (p.Asp21Gly)
|
rs2145952092
|
|
|
NM_003073.5(SMARCB1):c.630G>T (p.Glu210Asp)
|
|
|
|
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)
|
rs1930218305
|
|
|
NM_003073.5(SMARCB1):c.634T>C (p.Leu212=)
|
rs1601422533
|
|
|
NM_003073.5(SMARCB1):c.634T>G (p.Leu212Val)
|
|
|
|
NM_003073.5(SMARCB1):c.637A>T (p.Met213Leu)
|
rs1930218815
|
|
|
NM_003073.5(SMARCB1):c.63C>T (p.Asp21=)
|
|
|
|
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg)
|
rs780906523
|
|
|
NM_003073.5(SMARCB1):c.641C>T (p.Thr214Met)
|
rs780906523
|
|
|
NM_003073.5(SMARCB1):c.642G>T (p.Thr214=)
|
rs745315386
|
|
|
NM_003073.5(SMARCB1):c.644del (p.Pro215fs)
|
rs1930219613
|
|
|
NM_003073.5(SMARCB1):c.645T>G (p.Pro215=)
|
rs917531532
|
|
|
NM_003073.5(SMARCB1):c.652T>C (p.Phe218Leu)
|
|
|
|
NM_003073.5(SMARCB1):c.652T>G (p.Phe218Val)
|
|
|
|
NM_003073.5(SMARCB1):c.663C>T (p.Ile221=)
|
rs1406367876
|
|
|
NM_003073.5(SMARCB1):c.664C>G (p.Leu222Val)
|
|
|
|
NM_003073.5(SMARCB1):c.665T>C (p.Leu222Pro)
|
|
|
|
NM_003073.5(SMARCB1):c.668G>A (p.Cys223Tyr)
|
rs1470474620
|
|
|
NM_003073.5(SMARCB1):c.673G>A (p.Asp225Asn)
|
rs768379745
|
|
|
NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr)
|
rs768379745
|
|
|
NM_003073.5(SMARCB1):c.678G>A (p.Leu226=)
|
|
|
|
NM_003073.5(SMARCB1):c.67G>A (p.Gly23Ser)
|
rs1287987691
|
|
|
NM_003073.5(SMARCB1):c.682T>A (p.Leu228Met)
|
|
|
|
NM_003073.5(SMARCB1):c.684G>A (p.Leu228=)
|
rs2146009711
|
|
|
NM_003073.5(SMARCB1):c.687C>T (p.Asn229=)
|
|
|
|
NM_003073.5(SMARCB1):c.689C>A (p.Pro230Gln)
|
|
|
|
NM_003073.5(SMARCB1):c.689C>T (p.Pro230Leu)
|
rs2146009762
|
|
|
NM_003073.5(SMARCB1):c.68G>A (p.Gly23Asp)
|
rs1601382621
|
|
|
NM_003073.5(SMARCB1):c.690G>T (p.Pro230=)
|
|
|
|
NM_003073.5(SMARCB1):c.693G>A (p.Leu231=)
|
|
|
|
NM_003073.5(SMARCB1):c.696G>T (p.Thr232=)
|
rs145934279
|
|
|
NM_003073.5(SMARCB1):c.698T>A (p.Phe233Tyr)
|
|
|
|
NM_003073.5(SMARCB1):c.699T>C (p.Phe233=)
|
rs1930223074
|
|
|
NM_003073.5(SMARCB1):c.6G>A (p.Met2Ile)
|
|
|
|
NM_003073.5(SMARCB1):c.700G>C (p.Val234Leu)
|
rs1272912695
|
|
|
NM_003073.5(SMARCB1):c.700G>T (p.Val234Leu)
|
|
|
|
NM_003073.5(SMARCB1):c.702G>A (p.Val234=)
|
|
|
|
NM_003073.5(SMARCB1):c.702G>T (p.Val234=)
|
|
|
|
NM_003073.5(SMARCB1):c.706G>C (p.Ala236Pro)
|
rs1930223455
|
|
|
NM_003073.5(SMARCB1):c.70G>A (p.Glu24Lys)
|
rs1601382640
|
|
|
NM_003073.5(SMARCB1):c.710T>G (p.Ile237Ser)
|
rs2146009925
|
|
|
NM_003073.5(SMARCB1):c.713C>T (p.Ala238Val)
|
rs1060503019
|
|
|
NM_003073.5(SMARCB1):c.71A>C (p.Glu24Ala)
|
rs2145952118
|
|
|
NM_003073.5(SMARCB1):c.720C>T (p.Ala240=)
|
rs2146010010
|
|
|
NM_003073.5(SMARCB1):c.721A>G (p.Ile241Val)
|
|
|
|
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)
|
rs752910574
|
|
|
NM_003073.5(SMARCB1):c.72G>A (p.Glu24=)
|
|
|
|
NM_003073.5(SMARCB1):c.731A>T (p.Gln244Leu)
|
rs763202805
|
|
|
NM_003073.5(SMARCB1):c.735C>A (p.Ile245=)
|
rs570024912
|
|
|
NM_003073.5(SMARCB1):c.735C>T (p.Ile245=)
|
rs570024912
|
|
|
NM_003073.5(SMARCB1):c.736G>A (p.Glu246Lys)
|
rs1930225458
|
|
|
NM_003073.5(SMARCB1):c.741C>G (p.Ser247=)
|
rs534183354
|
|
|
NM_003073.5(SMARCB1):c.745C>T (p.Pro249Ser)
|
rs1930226221
|
|
|
NM_003073.5(SMARCB1):c.747C>T (p.Pro249=)
|
rs1555879356
|
|
|
NM_003073.5(SMARCB1):c.748A>G (p.Thr250Ala)
|
|
|
|
NM_003073.5(SMARCB1):c.74T>C (p.Phe25Ser)
|
rs2145952130
|
|
|
NM_003073.5(SMARCB1):c.754A>G (p.Ser252Gly)
|
|
|
|
NM_003073.5(SMARCB1):c.756C>T (p.Ser252=)
|
|
|
|
NM_003073.5(SMARCB1):c.758T>C (p.Ile253Thr)
|
rs2146010326
|
|
|
NM_003073.5(SMARCB1):c.759C>G (p.Ile253Met)
|
rs889171672
|
|
|
NM_003073.5(SMARCB1):c.759_761del (p.Ile253_Leu254delinsMet)
|
rs1930227319
|
|
|
NM_003073.5(SMARCB1):c.75C>T (p.Phe25=)
|
|
|
|
NM_003073.5(SMARCB1):c.765G>A (p.Glu255=)
|
rs1060504799
|
|
|
NM_003073.5(SMARCB1):c.765G>C (p.Glu255Asp)
|
|
|
|
NM_003073.5(SMARCB1):c.768C>T (p.Asp256=)
|
rs755629084
|
|
|
NM_003073.5(SMARCB1):c.769C>A (p.Gln257Lys)
|
|
|
|
NM_003073.5(SMARCB1):c.771G>C (p.Gln257His)
|
|
|
|
NM_003073.5(SMARCB1):c.778C>T (p.Gln260Ter)
|
rs2146010499
|
|
|
NM_003073.5(SMARCB1):c.782G>A (p.Arg261His)
|
rs779587990
|
|
|
NM_003073.5(SMARCB1):c.783C>A (p.Arg261=)
|
rs748964274
|
|
|
NM_003073.5(SMARCB1):c.784G>A (p.Val262Ile)
|
|
|
|
NM_003073.5(SMARCB1):c.787A>G (p.Ile263Val)
|
|
|
|
NM_003073.5(SMARCB1):c.790A>C (p.Ile264Leu)
|
rs887245809
|
|
|
NM_003073.5(SMARCB1):c.790A>T (p.Ile264Phe)
|
rs887245809
|
|
|
NM_003073.5(SMARCB1):c.795+12C>T
|
|
|
|
NM_003073.5(SMARCB1):c.795+14C>T
|
rs2146010716
|
|
|
NM_003073.5(SMARCB1):c.795+153A>G
|
rs2073393
|
|
|
NM_003073.5(SMARCB1):c.795+16C>T
|
rs1930231354
|
|
|
NM_003073.5(SMARCB1):c.795+18C>T
|
|
|
|
NM_003073.5(SMARCB1):c.795+19A>G
|
rs1930231629
|
|
|
NM_003073.5(SMARCB1):c.795+1G>A
|
rs1930230378
|
|
|
NM_003073.5(SMARCB1):c.795+3A>G
|
rs768344215
|
|
|
NM_003073.5(SMARCB1):c.795+4G>A
|
rs2146010650
|
|
|
NM_003073.5(SMARCB1):c.795+5G>A
|
rs199902957
|
|
|
NM_003073.5(SMARCB1):c.795+5del
|
rs2146010662
|
|
|
NM_003073.5(SMARCB1):c.795+9C>T
|
rs1007579645
|
|
|
NM_003073.5(SMARCB1):c.796-10G>A
|
rs2146026587
|
|
|
NM_003073.5(SMARCB1):c.796-11T>C
|
|
|
|
NM_003073.5(SMARCB1):c.796-11T>G
|
|
|
|
NM_003073.5(SMARCB1):c.796-14G>C
|
rs2146026561
|
|
|
NM_003073.5(SMARCB1):c.796-15T>C
|
|
|
|
NM_003073.5(SMARCB1):c.796-15T>G
|
|
|
|
NM_003073.5(SMARCB1):c.796-17T>C
|
rs2146026556
|
|
|
NM_003073.5(SMARCB1):c.796-4T>C
|
|
|
|
NM_003073.5(SMARCB1):c.796-4_796-3del
|
rs772576999
|
|
|
NM_003073.5(SMARCB1):c.796-5C>T
|
rs2146026596
|
|
|
NM_003073.5(SMARCB1):c.796-7G>C
|
rs1187579463
|
|
|
NM_003073.5(SMARCB1):c.796-9_796-7del
|
rs2146026574
|
|
|
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.801C>T (p.Asn267=)
|
|
|
|
NM_003073.5(SMARCB1):c.804C>T (p.Ile268=)
|
|
|
|
NM_003073.5(SMARCB1):c.807T>C (p.His269=)
|
rs1185957677
|
|
|
NM_003073.5(SMARCB1):c.80T>G (p.Met27Arg)
|
rs763994045
|
|
|
NM_003073.5(SMARCB1):c.810G>A (p.Val270=)
|
rs1601433312
|
|
|
NM_003073.5(SMARCB1):c.820T>G (p.Ser274Ala)
|
|
|
|
NM_003073.5(SMARCB1):c.823C>T (p.Leu275=)
|
rs2146026694
|
|
|
NM_003073.5(SMARCB1):c.825G>A (p.Leu275=)
|
rs2146026700
|
|
|
NM_003073.5(SMARCB1):c.826G>A (p.Val276Met)
|
rs2030319219
|
|
|
NM_003073.5(SMARCB1):c.827T>C (p.Val276Ala)
|
rs2030319413
|
|
|
NM_003073.5(SMARCB1):c.828G>A (p.Val276=)
|
rs1568957579
|
|
|
NM_003073.5(SMARCB1):c.829G>A (p.Asp277Asn)
|
rs2030319772
|
|
|
NM_003073.5(SMARCB1):c.82A>G (p.Ile28Val)
|
|
|
|
NM_003073.5(SMARCB1):c.831C>G (p.Asp277Glu)
|
rs1601433351
|
|
|
NM_003073.5(SMARCB1):c.831C>T (p.Asp277=)
|
rs1601433351
|
|
|
NM_003073.5(SMARCB1):c.836T>G (p.Phe279Cys)
|
rs2030320193
|
|
|
NM_003073.5(SMARCB1):c.83_84delinsAA (p.Ile28Lys)
|
rs2145952163
|
|
|
NM_003073.5(SMARCB1):c.845A>G (p.Asp282Gly)
|
rs2030320561
|
|
|
NM_003073.5(SMARCB1):c.846C>T (p.Asp282=)
|
rs2030320710
|
|
|
NM_003073.5(SMARCB1):c.847A>T (p.Met283Leu)
|
|
|
|
NM_003073.5(SMARCB1):c.849_866dup (p.Ser289_Pro290insSerGluLysGluAsnSer)
|
|
|
|
NM_003073.5(SMARCB1):c.850T>G (p.Ser284Ala)
|
rs2146026778
|
|
|
NM_003073.5(SMARCB1):c.852A>C (p.Ser284=)
|
rs138735048
|
|
|
NM_003073.5(SMARCB1):c.856_858del (p.Lys286del)
|
rs1060503020
|
|
|
NM_003073.5(SMARCB1):c.857A>G (p.Lys286Arg)
|
rs2146026825
|
|
|
NM_003073.5(SMARCB1):c.859_861del (p.Glu287del)
|
rs2146026831
|
|
|
NM_003073.5(SMARCB1):c.85G>A (p.Gly29Ser)
|
rs774011967
|
|
|
NM_003073.5(SMARCB1):c.85G>C (p.Gly29Arg)
|
rs774011967
|
|
|
NM_003073.5(SMARCB1):c.861G>A (p.Glu287=)
|
rs2146026838
|
|
|
NM_003073.5(SMARCB1):c.866C>T (p.Ser289Leu)
|
rs2030322042
|
|
|
NM_003073.5(SMARCB1):c.867A>C (p.Ser289=)
|
|
|
|
NM_003073.5(SMARCB1):c.868C>G (p.Pro290Ala)
|
rs2030322683
|
|
|
NM_003073.5(SMARCB1):c.868_870del (p.Pro290del)
|
rs2030322230
|
|
|
NM_003073.5(SMARCB1):c.876G>A (p.Lys292=)
|
rs2030323037
|
|
|
NM_003073.5(SMARCB1):c.87C>T (p.Gly29=)
|
rs1601382677
|
|
|
NM_003073.5(SMARCB1):c.880G>A (p.Ala294Thr)
|
rs1555880578
|
|
|
NM_003073.5(SMARCB1):c.881C>T (p.Ala294Val)
|
rs1555880581
|
|
|
NM_003073.5(SMARCB1):c.882C>G (p.Ala294=)
|
|
|
|
NM_003073.5(SMARCB1):c.883C>G (p.Leu295Val)
|
|
|
|
NM_003073.5(SMARCB1):c.888G>A (p.Lys296=)
|
rs769322487
|
|
|
NM_003073.5(SMARCB1):c.894C>G (p.Cys298Trp)
|
rs2030323849
|
|
|
NM_003073.5(SMARCB1):c.897G>T (p.Ser299=)
|
rs2229354
|
|
|
NM_003073.5(SMARCB1):c.8T>A (p.Met3Lys)
|
|
|
|
NM_003073.5(SMARCB1):c.907T>C (p.Leu303=)
|
rs2146026977
|
|
|
NM_003073.5(SMARCB1):c.90C>G (p.Ser30=)
|
rs761868468
|
|
|
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=)
|
rs761868468
|
|
|
NM_003073.5(SMARCB1):c.912C>G (p.Gly304=)
|
rs374509291
|
|
|
NM_003073.5(SMARCB1):c.914G>A (p.Gly305Glu)
|
|
|
|
NM_003073.5(SMARCB1):c.918G>A (p.Glu306=)
|
rs2146027021
|
|
|
NM_003073.5(SMARCB1):c.91G>T (p.Glu31Ter)
|
rs2145952184
|
|
|
NM_003073.5(SMARCB1):c.927C>T (p.Thr309=)
|
|
|
|
NM_003073.5(SMARCB1):c.92A>G (p.Glu31Gly)
|
|
|
|
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)
|
rs267607072
|
|
|
NM_003073.5(SMARCB1):c.92_93del (p.Glu31fs)
|
rs2145952190
|
|
|
NM_003073.5(SMARCB1):c.93+104_93+105del
|
rs372743461
|
|
|
NM_003073.5(SMARCB1):c.93+105GC[7]
|
rs55705149
|
|
|
NM_003073.5(SMARCB1):c.93+105GC[9]
|
rs55705149
|
|
|
NM_003073.5(SMARCB1):c.93+107_93+108insGGCGCG
|
rs1555875346
|
|
|
NM_003073.5(SMARCB1):c.93+10G>A
|
rs2145952229
|
|
|
NM_003073.5(SMARCB1):c.93+11G>A
|
|
|
|
NM_003073.5(SMARCB1):c.93+123G>T
|
rs529380801
|
|
|
NM_003073.5(SMARCB1):c.93+12C>T
|
|
|
|
NM_003073.5(SMARCB1):c.93+15G>A
|
|
|
|
NM_003073.5(SMARCB1):c.93+16T>G
|
rs2145952262
|
|
|
NM_003073.5(SMARCB1):c.93+1G>A
|
|
|
|
NM_003073.5(SMARCB1):c.93+44G>C
|
rs35243495
|
|
|
NM_003073.5(SMARCB1):c.93+4G>A
|
|
|
|
NM_003073.5(SMARCB1):c.93+5C>A
|
|
|
|
NM_003073.5(SMARCB1):c.93+6C>T
|
rs1928049977
|
|
|
NM_003073.5(SMARCB1):c.93+7del
|
|
|
|
NM_003073.5(SMARCB1):c.93+8G>A
|
rs2145952222
|
|
|
NM_003073.5(SMARCB1):c.93+8_93+25del
|
|
|
|
NM_003073.5(SMARCB1):c.93+95GGGC[4]
|
rs60395093
|
|
|
NM_003073.5(SMARCB1):c.93+99_93+127del
|
rs200930637
|
|
|
NM_003073.5(SMARCB1):c.93+9G>C
|
rs2145952225
|
|
|
NM_003073.5(SMARCB1):c.933C>G (p.Ile311Met)
|
|
|
|
NM_003073.5(SMARCB1):c.933C>T (p.Ile311=)
|
rs150722737
|
|
|
NM_003073.5(SMARCB1):c.934_981del (p.Ala312_Ala327del)
|
rs1601433521
|
|
|
NM_003073.5(SMARCB1):c.935C>T (p.Ala312Val)
|
rs2030327085
|
|
|
NM_003073.5(SMARCB1):c.936A>G (p.Ala312=)
|
rs1053215058
|
|
|
NM_003073.5(SMARCB1):c.93G>A (p.Glu31=)
|
|
|
|
NM_003073.5(SMARCB1):c.94-12C>T
|
|
|
|
NM_003073.5(SMARCB1):c.94-13G>A
|
|
|
|
NM_003073.5(SMARCB1):c.94-14T>C
|
|
|
|
NM_003073.5(SMARCB1):c.94-14T>G
|
|
|
|
NM_003073.5(SMARCB1):c.94-15T>G
|
rs751954991
|
|
|
NM_003073.5(SMARCB1):c.94-16C>G
|
|
|
|
NM_003073.5(SMARCB1):c.94-20C>G
|
|
|
|
NM_003073.5(SMARCB1):c.94-20C>T
|
rs1390658859
|
|
|
NM_003073.5(SMARCB1):c.94-3T>C
|
|
|
|
NM_003073.5(SMARCB1):c.94-4A>G
|
|
|
|
NM_003073.5(SMARCB1):c.94-4A>T
|
|
|
|
NM_003073.5(SMARCB1):c.94-8A>G
|
rs1039175631
|
|
|
NM_003073.5(SMARCB1):c.943A>T (p.Ile315Phe)
|
rs2146027104
|
|
|
NM_003073.5(SMARCB1):c.945C>T (p.Ile315=)
|
|
|
|
NM_003073.5(SMARCB1):c.946C>G (p.Arg316Gly)
|
|
|
|
NM_003073.5(SMARCB1):c.953A>G (p.Gln318Arg)
|
|
|
|
NM_003073.5(SMARCB1):c.957G>A (p.Leu319=)
|
|
|
|
NM_003073.5(SMARCB1):c.961T>A (p.Trp321Arg)
|
rs2146027158
|
|
|
NM_003073.5(SMARCB1):c.967C>A (p.Gln323Lys)
|
rs1265308124
|
|
|
NM_003073.5(SMARCB1):c.969G>C (p.Gln323His)
|
|
|
|
NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs)
|
rs1060503017
|
|
|
NM_003073.5(SMARCB1):c.972G>A (p.Lys324=)
|
rs1601433555
|
|
|
NM_003073.5(SMARCB1):c.975C>A (p.Thr325=)
|
rs774763517
|
|
|
NM_003073.5(SMARCB1):c.975C>G (p.Thr325=)
|
rs774763517
|
|
|
NM_003073.5(SMARCB1):c.975C>T (p.Thr325=)
|
rs774763517
|
|
|
NM_003073.5(SMARCB1):c.979G>A (p.Ala327Thr)
|
rs1601433577
|
|
|
NM_003073.5(SMARCB1):c.985A>G (p.Ser329Gly)
|
rs1568957782
|
|
|
NM_003073.5(SMARCB1):c.986+13A>G
|
|
|
|
NM_003073.5(SMARCB1):c.986+13A>T
|
rs1186098412
|
|
|
NM_003073.5(SMARCB1):c.986+143TCC[2]
|
rs4050151
|
|
|
NM_003073.5(SMARCB1):c.986+14T>C
|
rs2146027286
|
|
|
NM_003073.5(SMARCB1):c.986+158A>G
|
rs185465037
|
|
|
NM_003073.5(SMARCB1):c.986+18T>G
|
rs2146027295
|
|
|
NM_003073.5(SMARCB1):c.986+19C>A
|
rs2030332391
|
|
|
NM_003073.5(SMARCB1):c.986+1G>T
|
rs112038099
|
|
|
NM_003073.5(SMARCB1):c.986+20_986+23del
|
rs1365585745
|
|
|
NM_003073.5(SMARCB1):c.986+2T>C
|
rs2030331202
|
|
|
NM_003073.5(SMARCB1):c.986+57_986+58dup
|
rs5844569
|
|
|
NM_003073.5(SMARCB1):c.986+5G>A
|
|
|
|
NM_003073.5(SMARCB1):c.986+5G>C
|
|
|
|
NM_003073.5(SMARCB1):c.986+5G>T
|
rs1555880607
|
|
|
NM_003073.5(SMARCB1):c.986+9A>G
|
rs773617664
|
|
|
NM_003073.5(SMARCB1):c.986G>A (p.Ser329Asn)
|
|
|
|
NM_003073.5(SMARCB1):c.987-10C>T
|
rs2146041484
|
|
|
NM_003073.5(SMARCB1):c.987-12C>G
|
|
|
|
NM_003073.5(SMARCB1):c.987-16C>A
|
|
|
|
NM_003073.5(SMARCB1):c.987-16C>T
|
|
|
|
NM_003073.5(SMARCB1):c.987-19C>T
|
|
|
|
NM_003073.5(SMARCB1):c.987-1G>A
|
rs2030785010
|
|
|
NM_003073.5(SMARCB1):c.987-1G>C
|
rs2030785010
|
|
|
NM_003073.5(SMARCB1):c.987-4G>C
|
rs745773662
|
|
|
NM_003073.5(SMARCB1):c.987-4G>T
|
rs745773662
|
|
|
NM_003073.5(SMARCB1):c.987-6T>C
|
rs1601445192
|
|
|
NM_003073.5(SMARCB1):c.987-9T>C
|
|
|
|
NM_003073.5(SMARCB1):c.987C>A (p.Ser329Arg)
|
rs137942040
|
|
|
NM_003073.5(SMARCB1):c.988G>A (p.Glu330Lys)
|
|
|
|
NM_003073.5(SMARCB1):c.995C>G (p.Pro332Arg)
|
rs2146041698
|
|
|
NM_003073.5(SMARCB1):c.995C>T (p.Pro332Leu)
|
rs2146041698
|
|
|
NM_003073.5(SMARCB1):c.997C>T (p.Leu333=)
|
rs542096454
|
|
|
NM_003073.5(SMARCB1):c.999G>A (p.Leu333=)
|
|
|
|
NM_003073.5(SMARCB1):c.9_10delinsTT (p.Met3_Met4delinsIleLeu)
|
|
|