NM_003079.5(SMARCE1):c.541+309A>G
|
rs145090511
|
0.01424
|
NM_003079.5(SMARCE1):c.817-226G>A
|
rs117227765
|
0.01416
|
NM_003079.5(SMARCE1):c.156+191A>G
|
rs113326396
|
0.00888
|
NM_003079.5(SMARCE1):c.541+253C>T
|
rs17557879
|
0.00711
|
NM_003079.5(SMARCE1):c.714+191T>C
|
rs76906925
|
0.00705
|
NM_003079.5(SMARCE1):c.541+254G>A
|
rs111551348
|
0.00594
|
NM_003079.5(SMARCE1):c.237+30G>A
|
rs113265224
|
0.00574
|
NM_003079.5(SMARCE1):c.238-327C>T
|
rs76095746
|
0.00574
|
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter)
|
rs62622817
|
0.00398
|
NM_003079.5(SMARCE1):c.542-83G>A
|
rs114978886
|
0.00397
|
NM_003079.5(SMARCE1):c.714+185A>G
|
rs148230428
|
0.00364
|
NM_003079.5(SMARCE1):c.542-195C>A
|
rs7210265
|
0.00352
|
NM_003079.5(SMARCE1):c.817-62A>C
|
rs144902719
|
0.00344
|
NM_003079.5(SMARCE1):c.369+12G>T
|
rs58739414
|
0.00232
|
NM_003079.5(SMARCE1):c.1079G>A (p.Gly360Asp)
|
rs142193069
|
0.00143
|
NM_003079.5(SMARCE1):c.1101G>A (p.Lys367=)
|
rs148666451
|
0.00066
|
NM_003079.5(SMARCE1):c.351C>T (p.Asn117=)
|
rs149613910
|
0.00041
|
NM_003079.5(SMARCE1):c.157-4G>A
|
rs141832779
|
0.00032
|
NM_003079.5(SMARCE1):c.300T>A (p.Ile100=)
|
rs143363725
|
0.00024
|
NM_003079.5(SMARCE1):c.1122C>T (p.Val374=)
|
rs144057094
|
0.00016
|
NM_003079.5(SMARCE1):c.894A>G (p.Lys298=)
|
rs759780963
|
0.00016
|
NM_003079.5(SMARCE1):c.933T>C (p.Ala311=)
|
rs141470385
|
0.00016
|
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile)
|
rs140414666
|
0.00015
|
NM_003079.5(SMARCE1):c.579C>T (p.Thr193=)
|
rs201484943
|
0.00012
|
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg)
|
rs542193901
|
0.00010
|
NM_003079.5(SMARCE1):c.999A>G (p.Lys333=)
|
rs372423633
|
0.00008
|
NM_003079.5(SMARCE1):c.135G>A (p.Pro45=)
|
rs148373393
|
0.00007
|
NM_003079.5(SMARCE1):c.938G>A (p.Arg313His)
|
rs201577008
|
0.00007
|
NM_003079.5(SMARCE1):c.1017G>A (p.Pro339=)
|
rs372446330
|
0.00006
|
NM_003079.5(SMARCE1):c.1067A>G (p.Asn356Ser)
|
rs151220618
|
0.00006
|
NM_003079.5(SMARCE1):c.1209C>T (p.Pro403=)
|
rs761485678
|
0.00006
|
NM_003079.5(SMARCE1):c.921C>T (p.Ala307=)
|
rs888776519
|
0.00006
|
NM_003079.5(SMARCE1):c.1095G>C (p.Glu365Asp)
|
rs773859296
|
0.00005
|
NM_003079.5(SMARCE1):c.1167G>A (p.Ser389=)
|
rs755995632
|
0.00005
|
NM_003079.5(SMARCE1):c.954C>T (p.Ile318=)
|
rs376628666
|
0.00005
|
NM_003079.5(SMARCE1):c.963G>A (p.Glu321=)
|
rs753203502
|
0.00005
|
NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=)
|
rs767262463
|
0.00004
|
NM_003079.5(SMARCE1):c.1173C>T (p.Ser391=)
|
rs377096761
|
0.00004
|
NM_003079.5(SMARCE1):c.1226A>G (p.Lys409Arg)
|
rs770346178
|
0.00004
|
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr)
|
rs771308672
|
0.00004
|
NM_003079.5(SMARCE1):c.57G>T (p.Met19Ile)
|
rs142279746
|
0.00004
|
NM_003079.5(SMARCE1):c.642C>T (p.Asp214=)
|
rs186493032
|
0.00004
|
NM_003079.5(SMARCE1):c.715-6T>G
|
rs560583293
|
0.00004
|
NM_003079.5(SMARCE1):c.817-18C>G
|
rs774207941
|
0.00004
|
NM_003079.5(SMARCE1):c.823G>A (p.Gly275Ser)
|
rs745448272
|
0.00004
|
NM_003079.5(SMARCE1):c.922G>A (p.Ala308Thr)
|
rs372988818
|
0.00004
|
NM_003079.5(SMARCE1):c.1002C>G (p.Asp334Glu)
|
rs750483952
|
0.00003
|
NM_003079.5(SMARCE1):c.168T>C (p.Gly56=)
|
rs773059312
|
0.00003
|
NM_003079.5(SMARCE1):c.207G>A (p.Pro69=)
|
rs373563447
|
0.00003
|
NM_003079.5(SMARCE1):c.369G>A (p.Lys123=)
|
rs746320191
|
0.00003
|
NM_003079.5(SMARCE1):c.531A>G (p.Glu177=)
|
rs377424178
|
0.00003
|
NM_003079.5(SMARCE1):c.542-11G>A
|
rs777566198
|
0.00003
|
NM_003079.5(SMARCE1):c.762G>A (p.Glu254=)
|
rs374977780
|
0.00003
|
NM_003079.5(SMARCE1):c.1002C>T (p.Asp334=)
|
rs750483952
|
0.00002
|
NM_003079.5(SMARCE1):c.1005C>T (p.Asp335=)
|
rs1394131991
|
0.00002
|
NM_003079.5(SMARCE1):c.1110G>A (p.Gly370=)
|
rs146475742
|
0.00002
|
NM_003079.5(SMARCE1):c.370-16A>C
|
rs773985049
|
0.00002
|
NM_003079.5(SMARCE1):c.506C>T (p.Pro169Leu)
|
rs775997908
|
0.00002
|
NM_003079.5(SMARCE1):c.507G>A (p.Pro169=)
|
rs768018632
|
0.00002
|
NM_003079.5(SMARCE1):c.52-15A>G
|
rs534661500
|
0.00002
|
NM_003079.5(SMARCE1):c.573A>C (p.Thr191=)
|
rs1060504227
|
0.00002
|
NM_003079.5(SMARCE1):c.822C>T (p.Cys274=)
|
rs769584665
|
0.00002
|
NM_003079.5(SMARCE1):c.860C>G (p.Ala287Gly)
|
rs201158885
|
0.00002
|
NM_003079.5(SMARCE1):c.961G>A (p.Glu321Lys)
|
rs925142025
|
0.00002
|
NM_003079.5(SMARCE1):c.988G>A (p.Glu330Lys)
|
rs755389218
|
0.00002
|
NM_003079.5(SMARCE1):c.1016C>T (p.Pro339Leu)
|
rs1060501398
|
0.00001
|
NM_003079.5(SMARCE1):c.1027+15A>G
|
rs373998018
|
0.00001
|
NM_003079.5(SMARCE1):c.1027+16C>A
|
rs779439710
|
0.00001
|
NM_003079.5(SMARCE1):c.1027+20C>T
|
rs755475324
|
0.00001
|
NM_003079.5(SMARCE1):c.1028-7del
|
rs750699769
|
0.00001
|
NM_003079.5(SMARCE1):c.102C>T (p.Leu34=)
|
rs1567848949
|
0.00001
|
NM_003079.5(SMARCE1):c.1055A>G (p.Glu352Gly)
|
rs1198138077
|
0.00001
|
NM_003079.5(SMARCE1):c.1083G>A (p.Thr361=)
|
rs760555858
|
0.00001
|
NM_003079.5(SMARCE1):c.1123G>A (p.Asp375Asn)
|
rs746301638
|
0.00001
|
NM_003079.5(SMARCE1):c.1125C>T (p.Asp375=)
|
rs1178049897
|
0.00001
|
NM_003079.5(SMARCE1):c.1152T>C (p.Asp384=)
|
rs747192638
|
0.00001
|
NM_003079.5(SMARCE1):c.1185A>G (p.Thr395=)
|
rs2037060598
|
0.00001
|
NM_003079.5(SMARCE1):c.1210A>G (p.Ile404Val)
|
rs751165188
|
0.00001
|
NM_003079.5(SMARCE1):c.156+20C>T
|
rs759489225
|
0.00001
|
NM_003079.5(SMARCE1):c.157-5C>T
|
rs776664220
|
0.00001
|
NM_003079.5(SMARCE1):c.157-6T>C
|
rs759579237
|
0.00001
|
NM_003079.5(SMARCE1):c.174G>A (p.Thr58=)
|
rs201976136
|
0.00001
|
NM_003079.5(SMARCE1):c.232A>C (p.Arg78=)
|
rs1201043924
|
0.00001
|
NM_003079.5(SMARCE1):c.237+14A>T
|
rs2037158156
|
0.00001
|
NM_003079.5(SMARCE1):c.238-12T>C
|
rs529233633
|
0.00001
|
NM_003079.5(SMARCE1):c.238-6T>C
|
rs1194551641
|
0.00001
|
NM_003079.5(SMARCE1):c.238-7T>C
|
rs1461647458
|
0.00001
|
NM_003079.5(SMARCE1):c.264C>T (p.Asn88=)
|
rs761400708
|
0.00001
|
NM_003079.5(SMARCE1):c.267T>C (p.Pro89=)
|
rs1460253575
|
0.00001
|
NM_003079.5(SMARCE1):c.357C>T (p.Tyr119=)
|
rs770298495
|
0.00001
|
NM_003079.5(SMARCE1):c.369+18A>G
|
rs778183973
|
0.00001
|
NM_003079.5(SMARCE1):c.370-8A>C
|
rs368298445
|
0.00001
|
NM_003079.5(SMARCE1):c.381T>C (p.Asn127=)
|
rs574039127
|
0.00001
|
NM_003079.5(SMARCE1):c.405T>C (p.Asn135=)
|
rs888304315
|
0.00001
|
NM_003079.5(SMARCE1):c.411C>T (p.Pro137=)
|
rs777241499
|
0.00001
|
NM_003079.5(SMARCE1):c.488G>A (p.Arg163His)
|
rs762623799
|
0.00001
|
NM_003079.5(SMARCE1):c.510C>T (p.Tyr170=)
|
rs2037142363
|
0.00001
|
NM_003079.5(SMARCE1):c.516C>T (p.Ser172=)
|
rs771523560
|
0.00001
|
NM_003079.5(SMARCE1):c.517A>G (p.Ile173Val)
|
rs2037142228
|
0.00001
|
NM_003079.5(SMARCE1):c.522G>A (p.Gln174=)
|
rs761026520
|
0.00001
|
NM_003079.5(SMARCE1):c.549T>C (p.Asp183=)
|
rs752455835
|
0.00001
|
NM_003079.5(SMARCE1):c.600C>T (p.His200=)
|
rs990075824
|
0.00001
|
NM_003079.5(SMARCE1):c.606C>G (p.Leu202=)
|
rs1243737488
|
0.00001
|
NM_003079.5(SMARCE1):c.657C>T (p.Val219=)
|
rs1423245581
|
0.00001
|
NM_003079.5(SMARCE1):c.696G>A (p.Gln232=)
|
rs2293417
|
0.00001
|
NM_003079.5(SMARCE1):c.715-19G>A
|
rs775623781
|
0.00001
|
NM_003079.5(SMARCE1):c.723A>G (p.Leu241=)
|
rs747447517
|
0.00001
|
NM_003079.5(SMARCE1):c.789A>G (p.Thr263=)
|
rs572351725
|
0.00001
|
NM_003079.5(SMARCE1):c.795A>G (p.Ser265=)
|
rs1193419924
|
0.00001
|
NM_003079.5(SMARCE1):c.817-16G>C
|
rs1042908466
|
0.00001
|
NM_003079.5(SMARCE1):c.855T>C (p.Ile285=)
|
rs994303454
|
0.00001
|
NM_003079.5(SMARCE1):c.868G>A (p.Ala290Thr)
|
rs1395650269
|
0.00001
|
NM_003079.5(SMARCE1):c.937C>T (p.Arg313Cys)
|
rs769672368
|
0.00001
|
NM_003079.5(SMARCE1):c.942T>C (p.Ser314=)
|
rs1317450309
|
0.00001
|
NM_003079.5(SMARCE1):c.956T>C (p.Val319Ala)
|
rs758831830
|
0.00001
|
NM_003079.5(SMARCE1):c.959C>T (p.Pro320Leu)
|
rs2037085756
|
0.00001
|
NM_003079.5(SMARCE1):c.990G>A (p.Glu330=)
|
rs754175611
|
0.00001
|
NM_003079.5(SMARCE1):c.-45-8dup
|
|
|
NM_003079.5(SMARCE1):c.1027+13C>G
|
|
|
NM_003079.5(SMARCE1):c.1027+16C>G
|
rs779439710
|
|
NM_003079.5(SMARCE1):c.1027+19A>G
|
|
|
NM_003079.5(SMARCE1):c.1027+8A>G
|
|
|
NM_003079.5(SMARCE1):c.1028-10G>T
|
rs2037063345
|
|
NM_003079.5(SMARCE1):c.1028-12G>A
|
|
|
NM_003079.5(SMARCE1):c.1028-20T>A
|
|
|
NM_003079.5(SMARCE1):c.102C>G (p.Leu34=)
|
rs1567848949
|
|
NM_003079.5(SMARCE1):c.1033A>C (p.Thr345Pro)
|
rs1597741316
|
|
NM_003079.5(SMARCE1):c.1038C>G (p.His346Gln)
|
rs1597741306
|
|
NM_003079.5(SMARCE1):c.1038C>T (p.His346=)
|
|
|
NM_003079.5(SMARCE1):c.1041T>G (p.Leu347=)
|
|
|
NM_003079.5(SMARCE1):c.1050A>C (p.Thr350=)
|
rs2143980877
|
|
NM_003079.5(SMARCE1):c.1053A>C (p.Thr351=)
|
|
|
NM_003079.5(SMARCE1):c.1059C>T (p.Ser353=)
|
|
|
NM_003079.5(SMARCE1):c.105C>T (p.Ala35=)
|
|
|
NM_003079.5(SMARCE1):c.1062A>G (p.Gln354=)
|
rs2143980837
|
|
NM_003079.5(SMARCE1):c.1065G>A (p.Gln355=)
|
rs2143980829
|
|
NM_003079.5(SMARCE1):c.1068T>C (p.Asn356=)
|
rs1597741295
|
|
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp)
|
rs2143980805
|
|
NM_003079.5(SMARCE1):c.1073AAG[1] (p.Glu359del)
|
rs765354113
|
|
NM_003079.5(SMARCE1):c.1074A>G (p.Glu358=)
|
rs2143980796
|
|
NM_003079.5(SMARCE1):c.1078G>C (p.Gly360Arg)
|
rs976928947
|
|
NM_003079.5(SMARCE1):c.1080C>T (p.Gly360=)
|
rs2143980767
|
|
NM_003079.5(SMARCE1):c.1086T>A (p.Ser362=)
|
|
|
NM_003079.5(SMARCE1):c.1092T>G (p.Pro364=)
|
rs2143980702
|
|
NM_003079.5(SMARCE1):c.1095G>A (p.Glu365=)
|
|
|
NM_003079.5(SMARCE1):c.1098C>T (p.Asp366=)
|
|
|
NM_003079.5(SMARCE1):c.110A>G (p.Asn37Ser)
|
rs1597749763
|
|
NM_003079.5(SMARCE1):c.111C>T (p.Asn37=)
|
rs2144009134
|
|
NM_003079.5(SMARCE1):c.1122C>G (p.Val374=)
|
rs144057094
|
|
NM_003079.5(SMARCE1):c.1143A>C (p.Gly381=)
|
rs1555605081
|
|
NM_003079.5(SMARCE1):c.1146C>T (p.Thr382=)
|
rs2143980469
|
|
NM_003079.5(SMARCE1):c.1149T>C (p.Ser383=)
|
|
|
NM_003079.5(SMARCE1):c.1158C>T (p.Asn386=)
|
rs1597741219
|
|
NM_003079.5(SMARCE1):c.1164C>A (p.Gly388=)
|
|
|
NM_003079.5(SMARCE1):c.1164C>T (p.Gly388=)
|
rs573977743
|
|
NM_003079.5(SMARCE1):c.1170G>T (p.Glu390Asp)
|
rs2037060934
|
|
NM_003079.5(SMARCE1):c.1176C>T (p.Asn392=)
|
|
|
NM_003079.5(SMARCE1):c.1179T>C (p.Ser393=)
|
|
|
NM_003079.5(SMARCE1):c.1188G>A (p.Val396=)
|
|
|
NM_003079.5(SMARCE1):c.1191G>A (p.Glu397=)
|
|
|
NM_003079.5(SMARCE1):c.1200A>G (p.Pro400=)
|
rs2143980284
|
|
NM_003079.5(SMARCE1):c.1215A>G (p.Pro405=)
|
|
|
NM_003079.5(SMARCE1):c.1227A>G (p.Lys409=)
|
rs1486670960
|
|
NM_003079.5(SMARCE1):c.1231G>A (p.Glu411Lys)
|
rs62622817
|
|
NM_003079.5(SMARCE1):c.1236A>G (p.Ter412=)
|
rs2143980159
|
|
NM_003079.5(SMARCE1):c.123G>T (p.Leu41=)
|
rs2144009122
|
|
NM_003079.5(SMARCE1):c.132C>T (p.Asn44=)
|
|
|
NM_003079.5(SMARCE1):c.138C>T (p.Gly46=)
|
|
|
NM_003079.5(SMARCE1):c.147C>T (p.Ser49=)
|
|
|
NM_003079.5(SMARCE1):c.148C>A (p.Arg50=)
|
rs2037209097
|
|
NM_003079.5(SMARCE1):c.150G>A (p.Arg50=)
|
|
|
NM_003079.5(SMARCE1):c.156+10T>G
|
rs2037208869
|
|
NM_003079.5(SMARCE1):c.156+15T>C
|
|
|
NM_003079.5(SMARCE1):c.156+16A>G
|
|
|
NM_003079.5(SMARCE1):c.156+27C>T
|
|
|
NM_003079.5(SMARCE1):c.156+9A>G
|
rs2144009011
|
|
NM_003079.5(SMARCE1):c.157-11C>T
|
|
|
NM_003079.5(SMARCE1):c.157-19G>A
|
|
|
NM_003079.5(SMARCE1):c.157-20T>G
|
|
|
NM_003079.5(SMARCE1):c.157-3dup
|
|
|
NM_003079.5(SMARCE1):c.157-4G>T
|
rs141832779
|
|
NM_003079.5(SMARCE1):c.157-6del
|
rs2037158901
|
|
NM_003079.5(SMARCE1):c.165T>C (p.Ser55=)
|
rs2143999615
|
|
NM_003079.5(SMARCE1):c.174G>T (p.Thr58=)
|
|
|
NM_003079.5(SMARCE1):c.18T>C (p.Ser6=)
|
|
|
NM_003079.5(SMARCE1):c.18T>G (p.Ser6=)
|
|
|
NM_003079.5(SMARCE1):c.195A>G (p.Pro65=)
|
|
|
NM_003079.5(SMARCE1):c.204G>A (p.Lys68=)
|
rs1555605896
|
|
NM_003079.5(SMARCE1):c.210G>T (p.Leu70=)
|
|
|
NM_003079.5(SMARCE1):c.225G>A (p.Arg75=)
|
rs2143999523
|
|
NM_003079.5(SMARCE1):c.228C>T (p.Tyr76=)
|
rs2143999516
|
|
NM_003079.5(SMARCE1):c.234A>G (p.Arg78=)
|
rs2143999505
|
|
NM_003079.5(SMARCE1):c.237+200del
|
rs149262381
|
|
NM_003079.5(SMARCE1):c.237+8C>T
|
|
|
NM_003079.5(SMARCE1):c.237+9T>G
|
|
|
NM_003079.5(SMARCE1):c.238-11T>C
|
|
|
NM_003079.5(SMARCE1):c.238-16C>G
|
|
|
NM_003079.5(SMARCE1):c.238-18A>T
|
rs2143997501
|
|
NM_003079.5(SMARCE1):c.238-3A>G
|
|
|
NM_003079.5(SMARCE1):c.246C>T (p.Asp82=)
|
|
|
NM_003079.5(SMARCE1):c.249A>G (p.Gln83=)
|
|
|
NM_003079.5(SMARCE1):c.258T>C (p.Ala86=)
|
|
|
NM_003079.5(SMARCE1):c.261C>T (p.Ser87=)
|
|
|
NM_003079.5(SMARCE1):c.267T>G (p.Pro89=)
|
|
|
NM_003079.5(SMARCE1):c.271C>T (p.Leu91=)
|
|
|
NM_003079.5(SMARCE1):c.273A>G (p.Leu91=)
|
|
|
NM_003079.5(SMARCE1):c.277T>C (p.Leu93=)
|
|
|
NM_003079.5(SMARCE1):c.279G>A (p.Leu93=)
|
rs2037147129
|
|
NM_003079.5(SMARCE1):c.27A>C (p.Pro9=)
|
|
|
NM_003079.5(SMARCE1):c.285G>A (p.Glu95=)
|
|
|
NM_003079.5(SMARCE1):c.288T>C (p.Ile96=)
|
|
|
NM_003079.5(SMARCE1):c.291C>G (p.Gly97=)
|
|
|
NM_003079.5(SMARCE1):c.291C>T (p.Gly97=)
|
|
|
NM_003079.5(SMARCE1):c.306C>T (p.Gly102=)
|
|
|
NM_003079.5(SMARCE1):c.30T>A (p.Pro10=)
|
|
|
NM_003079.5(SMARCE1):c.30T>G (p.Pro10=)
|
|
|
NM_003079.5(SMARCE1):c.324T>C (p.Thr108=)
|
rs1597746306
|
|
NM_003079.5(SMARCE1):c.333A>G (p.Glu111=)
|
|
|
NM_003079.5(SMARCE1):c.342A>G (p.Glu114=)
|
rs2143997291
|
|
NM_003079.5(SMARCE1):c.348A>G (p.Leu116=)
|
rs2143997279
|
|
NM_003079.5(SMARCE1):c.366A>G (p.Glu122=)
|
rs2143997250
|
|
NM_003079.5(SMARCE1):c.369+10G>A
|
rs199790447
|
|
NM_003079.5(SMARCE1):c.369+13C>T
|
|
|
NM_003079.5(SMARCE1):c.369+15C>T
|
rs747316377
|
|
NM_003079.5(SMARCE1):c.369+17C>T
|
rs2143997153
|
|
NM_003079.5(SMARCE1):c.369+4G>C
|
rs1597746280
|
|
NM_003079.5(SMARCE1):c.369+8A>G
|
rs2143997205
|
|
NM_003079.5(SMARCE1):c.369+9G>T
|
rs2143997200
|
|
NM_003079.5(SMARCE1):c.36C>A (p.Thr12=)
|
|
|
NM_003079.5(SMARCE1):c.36C>T (p.Thr12=)
|
|
|
NM_003079.5(SMARCE1):c.370-10T>C
|
rs763801620
|
|
NM_003079.5(SMARCE1):c.370-12T>C
|
|
|
NM_003079.5(SMARCE1):c.370-13A>G
|
|
|
NM_003079.5(SMARCE1):c.370-14del
|
rs1272403496
|
|
NM_003079.5(SMARCE1):c.370-15A>T
|
|
|
NM_003079.5(SMARCE1):c.370-9G>T
|
rs2143996600
|
|
NM_003079.5(SMARCE1):c.384A>G (p.Glu128=)
|
rs2143996550
|
|
NM_003079.5(SMARCE1):c.396C>T (p.Ala132=)
|
|
|
NM_003079.5(SMARCE1):c.39A>C (p.Pro13=)
|
|
|
NM_003079.5(SMARCE1):c.402T>C (p.His134=)
|
rs1597746120
|
|
NM_003079.5(SMARCE1):c.414G>A (p.Ala138=)
|
rs555651762
|
|
NM_003079.5(SMARCE1):c.414G>T (p.Ala138=)
|
rs555651762
|
|
NM_003079.5(SMARCE1):c.417C>T (p.Tyr139=)
|
|
|
NM_003079.5(SMARCE1):c.423T>C (p.Ala141=)
|
rs2143996401
|
|
NM_003079.5(SMARCE1):c.423T>G (p.Ala141=)
|
|
|
NM_003079.5(SMARCE1):c.427A>G (p.Ile143Val)
|
rs772432672
|
|
NM_003079.5(SMARCE1):c.42T>A (p.Ala14=)
|
|
|
NM_003079.5(SMARCE1):c.42T>G (p.Ala14=)
|
|
|
NM_003079.5(SMARCE1):c.432T>C (p.Asn144=)
|
rs1597746097
|
|
NM_003079.5(SMARCE1):c.435A>C (p.Ala145=)
|
|
|
NM_003079.5(SMARCE1):c.435A>G (p.Ala145=)
|
|
|
NM_003079.5(SMARCE1):c.444T>C (p.Arg148=)
|
|
|
NM_003079.5(SMARCE1):c.444T>G (p.Arg148=)
|
rs2143996339
|
|
NM_003079.5(SMARCE1):c.450A>G (p.Glu150=)
|
rs2143996312
|
|
NM_003079.5(SMARCE1):c.45T>A (p.Pro15=)
|
|
|
NM_003079.5(SMARCE1):c.462G>A (p.Glu154=)
|
|
|
NM_003079.5(SMARCE1):c.465A>G (p.Glu155=)
|
rs2143996244
|
|
NM_003079.5(SMARCE1):c.468A>G (p.Glu156=)
|
|
|
NM_003079.5(SMARCE1):c.472C>A (p.Arg158=)
|
|
|
NM_003079.5(SMARCE1):c.477G>A (p.Gln159=)
|
rs1597746072
|
|
NM_003079.5(SMARCE1):c.483A>G (p.Gln161=)
|
rs1282104211
|
|
NM_003079.5(SMARCE1):c.486T>G (p.Ser162=)
|
rs1597746062
|
|
NM_003079.5(SMARCE1):c.495G>A (p.Glu165=)
|
|
|
NM_003079.5(SMARCE1):c.501A>G (p.Gly167=)
|
rs759123413
|
|
NM_003079.5(SMARCE1):c.51+10A>C
|
rs898142232
|
|
NM_003079.5(SMARCE1):c.51+19G>A
|
rs1597751980
|
|
NM_003079.5(SMARCE1):c.52-20G>T
|
|
|
NM_003079.5(SMARCE1):c.525T>C (p.Pro175=)
|
rs773720929
|
|
NM_003079.5(SMARCE1):c.528T>C (p.Ala176=)
|
|
|
NM_003079.5(SMARCE1):c.534T>C (p.Asp178=)
|
|
|
NM_003079.5(SMARCE1):c.540T>C (p.Asp180=)
|
|
|
NM_003079.5(SMARCE1):c.541+10A>G
|
rs1240216513
|
|
NM_003079.5(SMARCE1):c.541+11A>G
|
|
|
NM_003079.5(SMARCE1):c.541+14_541+15insC
|
|
|
NM_003079.5(SMARCE1):c.541+18G>C
|
rs1192376700
|
|
NM_003079.5(SMARCE1):c.541+7G>T
|
|
|
NM_003079.5(SMARCE1):c.541+8A>C
|
|
|
NM_003079.5(SMARCE1):c.541+8A>G
|
rs1478738793
|
|
NM_003079.5(SMARCE1):c.541+9A>C
|
rs2143995891
|
|
NM_003079.5(SMARCE1):c.542-13T>G
|
|
|
NM_003079.5(SMARCE1):c.542-15A>C
|
|
|
NM_003079.5(SMARCE1):c.542-16A>G
|
rs2143988665
|
|
NM_003079.5(SMARCE1):c.542-4C>G
|
|
|
NM_003079.5(SMARCE1):c.542-57dup
|
rs202002074
|
|
NM_003079.5(SMARCE1):c.542-6C>T
|
|
|
NM_003079.5(SMARCE1):c.542-7A>G
|
|
|
NM_003079.5(SMARCE1):c.542-8C>T
|
rs2143988643
|
|
NM_003079.5(SMARCE1):c.546T>C (p.Tyr182=)
|
rs1555605440
|
|
NM_003079.5(SMARCE1):c.552T>C (p.Asp184=)
|
rs1555605438
|
|
NM_003079.5(SMARCE1):c.555C>T (p.Gly185=)
|
rs2143988592
|
|
NM_003079.5(SMARCE1):c.561A>G (p.Ser187=)
|
|
|
NM_003079.5(SMARCE1):c.570T>C (p.His190=)
|
|
|
NM_003079.5(SMARCE1):c.573A>G (p.Thr191=)
|
|
|
NM_003079.5(SMARCE1):c.573A>T (p.Thr191=)
|
|
|
NM_003079.5(SMARCE1):c.576C>T (p.Ala192=)
|
|
|
NM_003079.5(SMARCE1):c.582C>G (p.Ala194=)
|
rs765736374
|
|
NM_003079.5(SMARCE1):c.582C>T (p.Ala194=)
|
rs765736374
|
|
NM_003079.5(SMARCE1):c.585T>C (p.Arg195=)
|
|
|
NM_003079.5(SMARCE1):c.594A>G (p.Arg198=)
|
|
|
NM_003079.5(SMARCE1):c.597C>T (p.Asn199=)
|
rs878854604
|
|
NM_003079.5(SMARCE1):c.621T>A (p.Leu207=)
|
|
|
NM_003079.5(SMARCE1):c.624T>C (p.Ser208=)
|
rs1567845801
|
|
NM_003079.5(SMARCE1):c.630T>C (p.Ser210=)
|
rs773810706
|
|
NM_003079.5(SMARCE1):c.636G>A (p.Val212=)
|
rs2143988373
|
|
NM_003079.5(SMARCE1):c.636G>T (p.Val212=)
|
rs2143988373
|
|
NM_003079.5(SMARCE1):c.63C>T (p.Ser21=)
|
rs1597749796
|
|
NM_003079.5(SMARCE1):c.648G>A (p.Arg216=)
|
|
|
NM_003079.5(SMARCE1):c.648G>T (p.Arg216=)
|
|
|
NM_003079.5(SMARCE1):c.651A>T (p.Ser217=)
|
|
|
NM_003079.5(SMARCE1):c.657C>G (p.Val219=)
|
|
|
NM_003079.5(SMARCE1):c.669A>G (p.Arg223=)
|
rs1597743597
|
|
NM_003079.5(SMARCE1):c.66A>G (p.Thr22=)
|
rs1597749794
|
|
NM_003079.5(SMARCE1):c.66A>T (p.Thr22=)
|
|
|
NM_003079.5(SMARCE1):c.675G>A (p.Gln225=)
|
|
|
NM_003079.5(SMARCE1):c.685C>A (p.Arg229=)
|
rs141619224
|
|
NM_003079.5(SMARCE1):c.687G>T (p.Arg229=)
|
|
|
NM_003079.5(SMARCE1):c.693C>G (p.Val231=)
|
rs1597743582
|
|
NM_003079.5(SMARCE1):c.69A>G (p.Pro23=)
|
rs766668916
|
|
NM_003079.5(SMARCE1):c.7+10A>C
|
|
|
NM_003079.5(SMARCE1):c.7+11dup
|
rs2144015604
|
|
NM_003079.5(SMARCE1):c.7+12T>A
|
|
|
NM_003079.5(SMARCE1):c.7+16T>C
|
|
|
NM_003079.5(SMARCE1):c.7+17A>G
|
|
|
NM_003079.5(SMARCE1):c.7+19A>G
|
rs2144015593
|
|
NM_003079.5(SMARCE1):c.714+14A>G
|
|
|
NM_003079.5(SMARCE1):c.714+15C>T
|
|
|
NM_003079.5(SMARCE1):c.714+16A>G
|
|
|
NM_003079.5(SMARCE1):c.714+17T>C
|
rs1321696308
|
|
NM_003079.5(SMARCE1):c.714+19C>A
|
|
|
NM_003079.5(SMARCE1):c.714+9A>G
|
|
|
NM_003079.5(SMARCE1):c.715-11C>T
|
rs746013361
|
|
NM_003079.5(SMARCE1):c.715-11dup
|
|
|
NM_003079.5(SMARCE1):c.715-12C>A
|
|
|
NM_003079.5(SMARCE1):c.715-12C>G
|
rs769970957
|
|
NM_003079.5(SMARCE1):c.715-12C>T
|
|
|
NM_003079.5(SMARCE1):c.715-20A>G
|
|
|
NM_003079.5(SMARCE1):c.715-4G>A
|
|
|
NM_003079.5(SMARCE1):c.726A>G (p.Glu242=)
|
|
|
NM_003079.5(SMARCE1):c.729T>A (p.Ala243=)
|
|
|
NM_003079.5(SMARCE1):c.72G>T (p.Gly24=)
|
|
|
NM_003079.5(SMARCE1):c.738T>G (p.Leu246=)
|
|
|
NM_003079.5(SMARCE1):c.741A>G (p.Gln247=)
|
rs1356231337
|
|
NM_003079.5(SMARCE1):c.742A>T (p.Ile248Leu)
|
rs2037096994
|
|
NM_003079.5(SMARCE1):c.750A>G (p.Glu250=)
|
rs1555605350
|
|
NM_003079.5(SMARCE1):c.756C>T (p.His252=)
|
rs2143987018
|
|
NM_003079.5(SMARCE1):c.765G>A (p.Lys255=)
|
rs749090821
|
|
NM_003079.5(SMARCE1):c.769A>C (p.Arg257=)
|
rs1597743097
|
|
NM_003079.5(SMARCE1):c.774A>G (p.Lys258=)
|
|
|
NM_003079.5(SMARCE1):c.786C>T (p.Ser262=)
|
rs2143986926
|
|
NM_003079.5(SMARCE1):c.798T>C (p.Phe266=)
|
|
|
NM_003079.5(SMARCE1):c.804T>C (p.Asn268=)
|
|
|
NM_003079.5(SMARCE1):c.810T>C (p.Leu270=)
|
|
|
NM_003079.5(SMARCE1):c.816+12A>G
|
|
|
NM_003079.5(SMARCE1):c.816+14A>G
|
rs2143986770
|
|
NM_003079.5(SMARCE1):c.816+7G>A
|
rs2143986787
|
|
NM_003079.5(SMARCE1):c.816+8T>C
|
rs2143986777
|
|
NM_003079.5(SMARCE1):c.817-12T>G
|
|
|
NM_003079.5(SMARCE1):c.817-15T>G
|
|
|
NM_003079.5(SMARCE1):c.817-16G>T
|
rs1042908466
|
|
NM_003079.5(SMARCE1):c.817-20T>A
|
rs2143985329
|
|
NM_003079.5(SMARCE1):c.817-9T>C
|
rs749106268
|
|
NM_003079.5(SMARCE1):c.819G>A (p.Leu273=)
|
rs2143985259
|
|
NM_003079.5(SMARCE1):c.81A>G (p.Gly27=)
|
rs2144009232
|
|
NM_003079.5(SMARCE1):c.821G>A (p.Cys274Tyr)
|
rs1413987767
|
|
NM_003079.5(SMARCE1):c.82T>C (p.Tyr28His)
|
rs2144009228
|
|
NM_003079.5(SMARCE1):c.831A>G (p.Lys277=)
|
rs780880269
|
|
NM_003079.5(SMARCE1):c.834A>G (p.Val278=)
|
rs1555605256
|
|
NM_003079.5(SMARCE1):c.843T>C (p.Asp281=)
|
rs1401541142
|
|
NM_003079.5(SMARCE1):c.84C>T (p.Tyr28=)
|
rs2144009223
|
|
NM_003079.5(SMARCE1):c.858A>G (p.Ala286=)
|
|
|
NM_003079.5(SMARCE1):c.861T>C (p.Ala287=)
|
rs2143985114
|
|
NM_003079.5(SMARCE1):c.867T>C (p.Ile289=)
|
rs2143985103
|
|
NM_003079.5(SMARCE1):c.869C>T (p.Ala290Val)
|
rs758923998
|
|
NM_003079.5(SMARCE1):c.873G>A (p.Gln291=)
|
|
|
NM_003079.5(SMARCE1):c.882A>G (p.Glu294=)
|
rs753014603
|
|
NM_003079.5(SMARCE1):c.888C>G (p.Ala296=)
|
rs898665020
|
|
NM_003079.5(SMARCE1):c.889C>T (p.Arg297Cys)
|
rs562702157
|
|
NM_003079.5(SMARCE1):c.891C>T (p.Arg297=)
|
|
|
NM_003079.5(SMARCE1):c.897G>A (p.Arg299=)
|
rs754006294
|
|
NM_003079.5(SMARCE1):c.90A>G (p.Pro30=)
|
rs750602675
|
|
NM_003079.5(SMARCE1):c.912G>A (p.Glu304=)
|
|
|
NM_003079.5(SMARCE1):c.918G>A (p.Glu306=)
|
rs2143984915
|
|
NM_003079.5(SMARCE1):c.927G>A (p.Glu309=)
|
rs2143984870
|
|
NM_003079.5(SMARCE1):c.945G>A (p.Gln315=)
|
rs1060504226
|
|
NM_003079.5(SMARCE1):c.954C>A (p.Ile318=)
|
|
|
NM_003079.5(SMARCE1):c.96T>C (p.Ser32=)
|
rs2144009165
|
|
NM_003079.5(SMARCE1):c.975A>G (p.Ala325=)
|
|
|
NM_003079.5(SMARCE1):c.978T>C (p.Ala326=)
|
rs2143984672
|
|
NM_003079.5(SMARCE1):c.99T>C (p.His33=)
|
|
|