NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro)
|
rs9530
|
0.50676
|
NM_000181.4(GUSB):c.1653+151A>G
|
rs1880555
|
0.49681
|
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=)
|
rs1061361
|
0.10447
|
NM_000181.4(GUSB):c.-12G>A
|
rs2279903
|
0.01784
|
NM_000181.4(GUSB):c.162C>T (p.Asn54=)
|
rs74975849
|
0.00909
|
NM_000181.4(GUSB):c.561A>G (p.Gln187=)
|
rs74430256
|
0.00755
|
NM_000181.4(GUSB):c.725-16C>T
|
rs62470936
|
0.00494
|
NM_000181.4(GUSB):c.1245-15C>T
|
rs62470935
|
0.00464
|
NM_000181.4(GUSB):c.216C>T (p.Gly72=)
|
rs77774169
|
0.00351
|
NM_000181.4(GUSB):c.1752G>A (p.Glu584=)
|
rs141430018
|
0.00250
|
NM_000181.4(GUSB):c.1359G>A (p.Ala453=)
|
rs118066970
|
0.00208
|
NM_000181.4(GUSB):c.1041T>C (p.Gly347=)
|
rs141303888
|
0.00197
|
NM_000181.4(GUSB):c.222C>T (p.Thr74=)
|
rs140016611
|
0.00185
|
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)
|
rs149606212
|
0.00128
|
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln)
|
rs140709901
|
0.00063
|
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
|
rs200831987
|
0.00052
|
NM_000181.4(GUSB):c.684C>A (p.Ile228=)
|
rs375590538
|
0.00045
|
NM_000181.4(GUSB):c.1240C>T (p.Leu414=)
|
rs150686327
|
0.00022
|
NM_000181.4(GUSB):c.147C>T (p.Ala49=)
|
rs375940373
|
0.00017
|
NM_000181.4(GUSB):c.54C>T (p.Gly18=)
|
rs759514074
|
0.00017
|
NM_000181.4(GUSB):c.1020G>A (p.Gly340=)
|
rs372851133
|
0.00016
|
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys)
|
rs143040697
|
0.00016
|
NM_000181.4(GUSB):c.1329C>T (p.Val443=)
|
rs139776224
|
0.00016
|
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
|
rs138618819
|
0.00016
|
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro)
|
rs190496263
|
0.00015
|
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)
|
rs371314015
|
0.00015
|
NM_000181.4(GUSB):c.933G>A (p.Thr311=)
|
rs188921177
|
0.00014
|
NM_000181.4(GUSB):c.918G>T (p.Gln306His)
|
rs375828604
|
0.00012
|
NM_000181.4(GUSB):c.447C>T (p.Phe149=)
|
rs148364905
|
0.00011
|
NM_000181.4(GUSB):c.582-17C>T
|
rs760650363
|
0.00011
|
NM_000181.4(GUSB):c.202C>T (p.Leu68=)
|
rs746199104
|
0.00010
|
NM_000181.4(GUSB):c.1244+17C>T
|
rs199587731
|
0.00009
|
NM_000181.4(GUSB):c.211-18C>T
|
rs774828816
|
0.00008
|
NM_000181.4(GUSB):c.1402G>A (p.Ala468Thr)
|
rs752854143
|
0.00007
|
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)
|
rs121918181
|
0.00007
|
NM_000181.4(GUSB):c.1065C>T (p.Asp355=)
|
rs758070679
|
0.00006
|
NM_000181.4(GUSB):c.1066-5C>T
|
rs376501876
|
0.00006
|
NM_000181.4(GUSB):c.1213G>A (p.Asp405Asn)
|
rs200149500
|
0.00006
|
NM_000181.4(GUSB):c.678C>T (p.Thr226=)
|
rs537957979
|
0.00006
|
NM_000181.4(GUSB):c.807C>T (p.Val269=)
|
rs571704452
|
0.00006
|
NM_000181.4(GUSB):c.871T>A (p.Tyr291Asn)
|
rs760452541
|
0.00006
|
NM_000181.4(GUSB):c.105G>C (p.Ser35=)
|
rs758743865
|
0.00005
|
NM_000181.4(GUSB):c.1137C>T (p.Asn379=)
|
rs371271170
|
0.00005
|
NM_000181.4(GUSB):c.211-8C>G
|
rs2293340
|
0.00005
|
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr)
|
rs11559281
|
0.00005
|
NM_000181.4(GUSB):c.1121G>A (p.Arg374His)
|
rs780716481
|
0.00004
|
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr)
|
rs377615121
|
0.00004
|
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
|
rs752523400
|
0.00004
|
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu)
|
rs751025746
|
0.00004
|
NM_000181.4(GUSB):c.1485T>C (p.Tyr495=)
|
rs1333588701
|
0.00004
|
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
NM_000181.4(GUSB):c.1789+9C>T
|
rs545446158
|
0.00004
|
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)
|
rs121918172
|
0.00004
|
NM_000181.4(GUSB):c.324G>A (p.Pro108=)
|
rs546131174
|
0.00004
|
NM_000181.4(GUSB):c.510C>T (p.Ile170=)
|
rs752674900
|
0.00004
|
NM_000181.4(GUSB):c.766T>C (p.Phe256Leu)
|
rs200941434
|
0.00004
|
NM_000181.4(GUSB):c.1224C>T (p.Pro408=)
|
rs757418833
|
0.00003
|
NM_000181.4(GUSB):c.1470C>T (p.Asp490=)
|
rs143084006
|
0.00003
|
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)
|
rs765983374
|
0.00003
|
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)
|
rs121918176
|
0.00003
|
NM_000181.4(GUSB):c.1857G>A (p.Ala619=)
|
rs779147312
|
0.00003
|
NM_000181.4(GUSB):c.633C>T (p.Tyr211=)
|
rs140278510
|
0.00003
|
NM_000181.4(GUSB):c.1062G>A (p.Ala354=)
|
rs554759648
|
0.00002
|
NM_000181.4(GUSB):c.1066-16C>T
|
rs758677498
|
0.00002
|
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)
|
rs121918185
|
0.00002
|
NM_000181.4(GUSB):c.1244+1G>A
|
rs765969571
|
0.00002
|
NM_000181.4(GUSB):c.1270C>A (p.His424Asn)
|
rs866996794
|
0.00002
|
NM_000181.4(GUSB):c.1654-4C>T
|
rs563449417
|
0.00002
|
NM_000181.4(GUSB):c.1790-2dup
|
rs764071830
|
0.00002
|
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg)
|
rs776024156
|
0.00002
|
NM_000181.4(GUSB):c.397-19G>A
|
rs759668020
|
0.00002
|
NM_000181.4(GUSB):c.553A>C (p.Thr185Pro)
|
rs755465262
|
0.00002
|
NM_000181.4(GUSB):c.697G>A (p.Val233Ile)
|
rs202210104
|
0.00002
|
NM_000181.4(GUSB):c.813G>A (p.Ala271=)
|
rs150999162
|
0.00002
|
NM_000181.4(GUSB):c.1023A>G (p.Lys341=)
|
rs774381911
|
0.00001
|
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)
|
rs121918182
|
0.00001
|
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val)
|
rs121918175
|
0.00001
|
NM_000181.4(GUSB):c.1065+4T>C
|
rs778151820
|
0.00001
|
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)
|
rs771629102
|
0.00001
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
NM_000181.4(GUSB):c.1212C>T (p.Ile404=)
|
rs375214425
|
0.00001
|
NM_000181.4(GUSB):c.1222C>T (p.Pro408Ser)
|
rs779091113
|
0.00001
|
NM_000181.4(GUSB):c.1245-4G>A
|
rs548368848
|
0.00001
|
NM_000181.4(GUSB):c.1325C>T (p.Ala442Val)
|
rs763845326
|
0.00001
|
NM_000181.4(GUSB):c.1326G>A (p.Ala442=)
|
rs1226319325
|
0.00001
|
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)
|
rs1434169374
|
0.00001
|
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)
|
rs121918179
|
0.00001
|
NM_000181.4(GUSB):c.1623T>C (p.Tyr541=)
|
rs769788461
|
0.00001
|
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter)
|
rs1210475838
|
0.00001
|
NM_000181.4(GUSB):c.1651C>T (p.Gln551Ter)
|
rs1344332366
|
0.00001
|
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu)
|
rs769252159
|
0.00001
|
NM_000181.4(GUSB):c.1741G>A (p.Val581Met)
|
rs150304382
|
0.00001
|
NM_000181.4(GUSB):c.1791A>G (p.Ser597=)
|
rs767115386
|
0.00001
|
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu)
|
rs1325465494
|
0.00001
|
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)
|
rs121918184
|
0.00001
|
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met)
|
rs756035101
|
0.00001
|
NM_000181.4(GUSB):c.1929A>G (p.Gln643=)
|
rs764493374
|
0.00001
|
NM_000181.4(GUSB):c.196C>T (p.Arg66Trp)
|
rs776085845
|
0.00001
|
NM_000181.4(GUSB):c.200C>T (p.Pro67Leu)
|
rs948834547
|
0.00001
|
NM_000181.4(GUSB):c.210+11G>C
|
rs886062403
|
0.00001
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
NM_000181.4(GUSB):c.394G>A (p.Val132Met)
|
rs769151272
|
0.00001
|
NM_000181.4(GUSB):c.396+15G>T
|
rs757135258
|
0.00001
|
NM_000181.4(GUSB):c.414C>T (p.Asp138=)
|
rs1444763456
|
0.00001
|
NM_000181.4(GUSB):c.493C>T (p.Arg165Trp)
|
rs771137253
|
0.00001
|
NM_000181.4(GUSB):c.581+16C>T
|
rs768612200
|
0.00001
|
NM_000181.4(GUSB):c.581+8C>T
|
rs527730129
|
0.00001
|
NM_000181.4(GUSB):c.613T>C (p.Tyr205His)
|
rs367989163
|
0.00001
|
NM_000181.4(GUSB):c.658C>G (p.Leu220Val)
|
rs760324067
|
0.00001
|
NM_000181.4(GUSB):c.666G>A (p.Thr222=)
|
rs773822519
|
0.00001
|
NM_000181.4(GUSB):c.669A>T (p.Thr223=)
|
rs201178083
|
0.00001
|
NM_000181.4(GUSB):c.681C>T (p.Tyr227=)
|
rs1791831745
|
0.00001
|
NM_000181.4(GUSB):c.760A>C (p.Asn254His)
|
rs150086524
|
0.00001
|
NM_000181.4(GUSB):c.7C>T (p.Arg3Trp)
|
rs750955623
|
0.00001
|
NM_000181.4(GUSB):c.861C>T (p.Leu287=)
|
rs753430922
|
0.00001
|
NM_000181.4(GUSB):c.870G>A (p.Pro290=)
|
rs377665214
|
0.00001
|
NM_000181.4(GUSB):c.955T>C (p.Phe319Leu)
|
rs757549474
|
0.00001
|
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser)
|
rs886044680
|
0.00001
|
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)
|
rs561880652
|
0.00001
|
NC_000007.13:g.(?_65425884)_(65447170_?)dup
|
|
|
NC_000007.14:g.(?_65960877)_(65982203_?)dup
|
|
|
NC_000007.14:g.(?_65960877)_(66092932_?)del
|
|
|
NC_000007.14:g.(?_65967711)_(65970386_?)del
|
|
|
NC_000007.14:g.(?_65970262)_(65970386_?)del
|
|
|
NC_000007.14:g.(?_65974275)_(65982203_?)del
|
|
|
NC_000007.14:g.65974442del
|
|
|
NM_000181.4(GUSB):c.1002C>T (p.Ser334=)
|
rs1166045525
|
|
NM_000181.4(GUSB):c.1026T>G (p.Pro342=)
|
|
|
NM_000181.4(GUSB):c.1038C>T (p.His346=)
|
|
|
NM_000181.4(GUSB):c.1044C>T (p.Val348=)
|
|
|
NM_000181.4(GUSB):c.1047del (p.Asn349fs)
|
|
|
NM_000181.4(GUSB):c.1056G>A (p.Glu352=)
|
|
|
NM_000181.4(GUSB):c.1065+11G>A
|
|
|
NM_000181.4(GUSB):c.1065+18G>A
|
|
|
NM_000181.4(GUSB):c.1066-11C>T
|
|
|
NM_000181.4(GUSB):c.1066-20T>C
|
|
|
NM_000181.4(GUSB):c.1066-4del
|
|
|
NM_000181.4(GUSB):c.1066-6T>C
|
|
|
NM_000181.4(GUSB):c.1066-6_1066-5del
|
|
|
NM_000181.4(GUSB):c.1066-7C>A
|
|
|
NM_000181.4(GUSB):c.1066-9A>G
|
|
|
NM_000181.4(GUSB):c.1077G>A (p.Lys359=)
|
|
|
NM_000181.4(GUSB):c.1083C>T (p.Phe361=)
|
|
|
NM_000181.4(GUSB):c.1092G>A (p.Pro364=)
|
|
|
NM_000181.4(GUSB):c.1096C>T (p.Leu366=)
|
|
|
NM_000181.4(GUSB):c.1098G>A (p.Leu366=)
|
|
|
NM_000181.4(GUSB):c.10G>A (p.Gly4Arg)
|
|
|
NM_000181.4(GUSB):c.1116G>A (p.Leu372=)
|
|
|
NM_000181.4(GUSB):c.1119T>G (p.Leu373=)
|
|
|
NM_000181.4(GUSB):c.111G>A (p.Glu37=)
|
|
|
NM_000181.4(GUSB):c.112T>C (p.Cys38Arg)
|
|
|
NM_000181.4(GUSB):c.1134C>T (p.Ala378=)
|
|
|
NM_000181.4(GUSB):c.1135A>T (p.Asn379Tyr)
|
rs1207640167
|
|
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser)
|
rs1289930946
|
|
NM_000181.4(GUSB):c.1143C>T (p.Phe381=)
|
|
|
NM_000181.4(GUSB):c.1149C>T (p.Thr383=)
|
|
|
NM_000181.4(GUSB):c.114C>T (p.Cys38=)
|
|
|
NM_000181.4(GUSB):c.1161C>G (p.Pro387=)
|
rs1791437300
|
|
NM_000181.4(GUSB):c.1167A>C (p.Ala389=)
|
|
|
NM_000181.4(GUSB):c.1167A>G (p.Ala389=)
|
|
|
NM_000181.4(GUSB):c.117G>A (p.Lys39=)
|
|
|
NM_000181.4(GUSB):c.1182G>A (p.Gln394=)
|
|
|
NM_000181.4(GUSB):c.11_12del (p.Gly4fs)
|
|
|
NM_000181.4(GUSB):c.120G>A (p.Glu40=)
|
|
|
NM_000181.4(GUSB):c.1227C>T (p.Gly409=)
|
|
|
NM_000181.4(GUSB):c.1230G>C (p.Val410=)
|
|
|
NM_000181.4(GUSB):c.1239G>A (p.Ala413=)
|
|
|
NM_000181.4(GUSB):c.1244+15T>C
|
|
|
NM_000181.4(GUSB):c.1244+16G>A
|
|
|
NM_000181.4(GUSB):c.1244+19C>T
|
|
|
NM_000181.4(GUSB):c.1244+20C>G
|
|
|
NM_000181.4(GUSB):c.1245-11C>T
|
|
|
NM_000181.4(GUSB):c.1245-14C>T
|
|
|
NM_000181.4(GUSB):c.1245-19C>A
|
|
|
NM_000181.4(GUSB):c.1245-19C>T
|
rs995961802
|
|
NM_000181.4(GUSB):c.1245-5C>T
|
|
|
NM_000181.4(GUSB):c.1245-8G>A
|
|
|
NM_000181.4(GUSB):c.1273C>A (p.His425Asn)
|
|
|
NM_000181.4(GUSB):c.1275C>T (p.His425=)
|
|
|
NM_000181.4(GUSB):c.1285G>T (p.Val429Leu)
|
|
|
NM_000181.4(GUSB):c.1288A>C (p.Met430Leu)
|
rs768428238
|
|
NM_000181.4(GUSB):c.129C>A (p.Gly43=)
|
|
|
NM_000181.4(GUSB):c.12G>A (p.Gly4=)
|
|
|
NM_000181.4(GUSB):c.1300G>A (p.Val434Met)
|
|
|
NM_000181.4(GUSB):c.1320C>T (p.His440=)
|
|
|
NM_000181.4(GUSB):c.1323C>T (p.Pro441=)
|
|
|
NM_000181.4(GUSB):c.1326G>C (p.Ala442=)
|
|
|
NM_000181.4(GUSB):c.1330G>A (p.Val444Met)
|
|
|
NM_000181.4(GUSB):c.1341T>C (p.Ser447=)
|
|
|
NM_000181.4(GUSB):c.1349A>G (p.Asn450Ser)
|
rs2115949680
|
|
NM_000181.4(GUSB):c.1350C>T (p.Asn450=)
|
|
|
NM_000181.4(GUSB):c.1356T>C (p.Pro452=)
|
|
|
NM_000181.4(GUSB):c.1358C>T (p.Ala453Val)
|
rs912985278
|
|
NM_000181.4(GUSB):c.1374T>C (p.Ser458=)
|
|
|
NM_000181.4(GUSB):c.1382A>T (p.Tyr461Phe)
|
|
|
NM_000181.4(GUSB):c.1383C>T (p.Tyr461=)
|
|
|
NM_000181.4(GUSB):c.138C>T (p.Ser46=)
|
|
|
NM_000181.4(GUSB):c.1391+11C>T
|
|
|
NM_000181.4(GUSB):c.1391+12C>T
|
|
|
NM_000181.4(GUSB):c.1391+13T>G
|
|
|
NM_000181.4(GUSB):c.1391+14C>T
|
|
|
NM_000181.4(GUSB):c.1391+17T>C
|
|
|
NM_000181.4(GUSB):c.1391+18G>C
|
|
|
NM_000181.4(GUSB):c.1391+5G>A
|
|
|
NM_000181.4(GUSB):c.1392-12T>C
|
|
|
NM_000181.4(GUSB):c.1392-14C>T
|
|
|
NM_000181.4(GUSB):c.1401C>A (p.Ile467=)
|
|
|
NM_000181.4(GUSB):c.1401C>T (p.Ile467=)
|
|
|
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)
|
rs1302470051
|
|
NM_000181.4(GUSB):c.1417T>C (p.Leu473=)
|
|
|
NM_000181.4(GUSB):c.141C>T (p.Phe47=)
|
|
|
NM_000181.4(GUSB):c.1421A>G (p.Asp474Gly)
|
|
|
NM_000181.4(GUSB):c.1423C>A (p.Pro475Thr)
|
|
|
NM_000181.4(GUSB):c.1425C>T (p.Pro475=)
|
rs1791109537
|
|
NM_000181.4(GUSB):c.1430G>A (p.Arg477Gln)
|
|
|
NM_000181.4(GUSB):c.1431G>A (p.Arg477=)
|
|
|
NM_000181.4(GUSB):c.1431G>T (p.Arg477=)
|
|
|
NM_000181.4(GUSB):c.1455T>C (p.Ser485=)
|
|
|
NM_000181.4(GUSB):c.1455dup (p.Asn486Ter)
|
|
|
NM_000181.4(GUSB):c.1457_1460del (p.Asn486fs)
|
|
|
NM_000181.4(GUSB):c.1476+10G>A
|
|
|
NM_000181.4(GUSB):c.1476+13G>T
|
|
|
NM_000181.4(GUSB):c.1476+13del
|
rs2115900599
|
|
NM_000181.4(GUSB):c.1476+13dup
|
|
|
NM_000181.4(GUSB):c.1476+15C>T
|
|
|
NM_000181.4(GUSB):c.1476+16C>T
|
|
|
NM_000181.4(GUSB):c.1476+18C>A
|
|
|
NM_000181.4(GUSB):c.1476+18C>T
|
|
|
NM_000181.4(GUSB):c.1476+20C>A
|
|
|
NM_000181.4(GUSB):c.1476+20C>T
|
|
|
NM_000181.4(GUSB):c.1476+3G>A
|
rs886042522
|
|
NM_000181.4(GUSB):c.1476_1476+13del
|
|
|
NM_000181.4(GUSB):c.1477-16G>T
|
|
|
NM_000181.4(GUSB):c.1477-18C>T
|
|
|
NM_000181.4(GUSB):c.1477-1G>C
|
|
|
NM_000181.4(GUSB):c.1477-2A>G
|
|
|
NM_000181.4(GUSB):c.1477-5C>T
|
|
|
NM_000181.4(GUSB):c.1477-9T>C
|
|
|
NM_000181.4(GUSB):c.1482G>A (p.Pro494=)
|
rs548880426
|
|
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys)
|
rs121918178
|
|
NM_000181.4(GUSB):c.14C>T (p.Ser5Leu)
|
|
|
NM_000181.4(GUSB):c.1506C>T (p.Asn502=)
|
|
|
NM_000181.4(GUSB):c.1509C>T (p.Ser503=)
|
|
|
NM_000181.4(GUSB):c.1515C>T (p.Tyr505=)
|
|
|
NM_000181.4(GUSB):c.1527C>A (p.His509Gln)
|
|
|
NM_000181.4(GUSB):c.1527C>T (p.His509=)
|
rs201928248
|
|
NM_000181.4(GUSB):c.1530C>T (p.Asp510=)
|
|
|
NM_000181.4(GUSB):c.1533C>T (p.Tyr511=)
|
|
|
NM_000181.4(GUSB):c.1536G>A (p.Gly512=)
|
rs1282778009
|
|
NM_000181.4(GUSB):c.1581C>T (p.Asn527=)
|
|
|
NM_000181.4(GUSB):c.15G>A (p.Ser5=)
|
|
|
NM_000181.4(GUSB):c.1602G>A (p.Lys534=)
|
|
|
NM_000181.4(GUSB):c.1605C>T (p.Pro535=)
|
|
|
NM_000181.4(GUSB):c.1635G>A (p.Thr545=)
|
|
|
NM_000181.4(GUSB):c.1644G>A (p.Gly548=)
|
|
|
NM_000181.4(GUSB):c.1653+15G>A
|
|
|
NM_000181.4(GUSB):c.1653+17T>C
|
|
|
NM_000181.4(GUSB):c.1654-10T>C
|
|
|
NM_000181.4(GUSB):c.1654-10T>G
|
|
|
NM_000181.4(GUSB):c.1654-11T>C
|
|
|
NM_000181.4(GUSB):c.1654-12C>G
|
|
|
NM_000181.4(GUSB):c.1654-12C>T
|
|
|
NM_000181.4(GUSB):c.1654-14G>A
|
|
|
NM_000181.4(GUSB):c.1654-14G>T
|
|
|
NM_000181.4(GUSB):c.1654-1G>A
|
|
|
NM_000181.4(GUSB):c.1654-3T>C
|
|
|
NM_000181.4(GUSB):c.1654-7A>G
|
|
|
NM_000181.4(GUSB):c.1654-9G>A
|
|
|
NM_000181.4(GUSB):c.1663C>T (p.Leu555=)
|
|
|
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly)
|
rs772676579
|
|
NM_000181.4(GUSB):c.1703A>G (p.Gln568Arg)
|
|
|
NM_000181.4(GUSB):c.1704G>A (p.Gln568=)
|
|
|
NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys)
|
|
|
NM_000181.4(GUSB):c.1756dup (p.Ile586fs)
|
|
|
NM_000181.4(GUSB):c.1770C>T (p.Ala590=)
|
|
|
NM_000181.4(GUSB):c.177C>T (p.Phe59=)
|
|
|
NM_000181.4(GUSB):c.1782T>C (p.Thr594=)
|
|
|
NM_000181.4(GUSB):c.1782T>G (p.Thr594=)
|
|
|
NM_000181.4(GUSB):c.1789+10A>C
|
|
|
NM_000181.4(GUSB):c.1790-11T>C
|
|
|
NM_000181.4(GUSB):c.1790-11T>G
|
|
|
NM_000181.4(GUSB):c.1790-18T>C
|
|
|
NM_000181.4(GUSB):c.1790-20T>A
|
|
|
NM_000181.4(GUSB):c.1790-21_1790-20del
|
|
|
NM_000181.4(GUSB):c.1790-4G>T
|
rs879010457
|
|
NM_000181.4(GUSB):c.1790-5del
|
rs750022485
|
|
NM_000181.4(GUSB):c.1792C>G (p.Pro598Ala)
|
|
|
NM_000181.4(GUSB):c.1794G>A (p.Pro598=)
|
|
|
NM_000181.4(GUSB):c.1797G>A (p.Thr599=)
|
|
|
NM_000181.4(GUSB):c.1798dup (p.Arg600fs)
|
|
|
NM_000181.4(GUSB):c.17C>A (p.Ala6Glu)
|
|
|
NM_000181.4(GUSB):c.1804C>T (p.Leu602=)
|
|
|
NM_000181.4(GUSB):c.1809G>A (p.Gly603=)
|
|
|
NM_000181.4(GUSB):c.1809dup (p.Asn604fs)
|
|
|
NM_000181.4(GUSB):c.180G>A (p.Glu60=)
|
|
|
NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala)
|
|
|
NM_000181.4(GUSB):c.1829C>T (p.Thr610Ile)
|
|
|
NM_000181.4(GUSB):c.1854A>G (p.Ala618=)
|
|
|
NM_000181.4(GUSB):c.1857G>C (p.Ala619=)
|
|
|
NM_000181.4(GUSB):c.185A>C (p.Gln62Pro)
|
|
|
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg)
|
rs571736757
|
|
NM_000181.4(GUSB):c.1865T>A (p.Leu622Ter)
|
|
|
NM_000181.4(GUSB):c.1872_1875del (p.Glu624fs)
|
|
|
NM_000181.4(GUSB):c.1872_1875dup (p.Tyr626fs)
|
|
|
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs)
|
rs935464108
|
|
NM_000181.4(GUSB):c.1877A>G (p.Tyr626Cys)
|
|
|
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter)
|
rs1236992554
|
|
NM_000181.4(GUSB):c.1886T>C (p.Ile629Thr)
|
|
|
NM_000181.4(GUSB):c.1896A>G (p.Glu632=)
|
|
|
NM_000181.4(GUSB):c.18G>A (p.Ala6=)
|
|
|
NM_000181.4(GUSB):c.18G>C (p.Ala6=)
|
|
|
NM_000181.4(GUSB):c.1905T>C (p.Tyr635=)
|
|
|
NM_000181.4(GUSB):c.190del (p.Tyr64fs)
|
|
|
NM_000181.4(GUSB):c.1911C>T (p.His637=)
|
|
|
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)
|
rs770237165
|
|
NM_000181.4(GUSB):c.1926A>G (p.Ser642=)
|
|
|
NM_000181.4(GUSB):c.1927C>T (p.Gln643Ter)
|
|
|
NM_000181.4(GUSB):c.192C>T (p.Tyr64=)
|
|
|
NM_000181.4(GUSB):c.1945C>T (p.Leu649=)
|
|
|
NM_000181.4(GUSB):c.1946_1947inv (p.Leu649Pro)
|
|
|
NM_000181.4(GUSB):c.201G>T (p.Pro67=)
|
|
|
NM_000181.4(GUSB):c.210+13G>A
|
|
|
NM_000181.4(GUSB):c.210+16A>C
|
|
|
NM_000181.4(GUSB):c.210+20C>T
|
|
|
NM_000181.4(GUSB):c.210+5G>A
|
|
|
NM_000181.4(GUSB):c.210+5G>C
|
|
|
NM_000181.4(GUSB):c.211-15C>T
|
|
|
NM_000181.4(GUSB):c.211-16G>A
|
|
|
NM_000181.4(GUSB):c.211-17G>A
|
|
|
NM_000181.4(GUSB):c.211-17G>C
|
rs749802416
|
|
NM_000181.4(GUSB):c.211-18C>G
|
|
|
NM_000181.4(GUSB):c.211-20C>G
|
|
|
NM_000181.4(GUSB):c.211-20C>T
|
|
|
NM_000181.4(GUSB):c.211-7T>C
|
rs1299733589
|
|
NM_000181.4(GUSB):c.222C>G (p.Thr74=)
|
|
|
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)
|
rs376505707
|
|
NM_000181.4(GUSB):c.230T>G (p.Met77Arg)
|
rs751845855
|
|
NM_000181.4(GUSB):c.238C>G (p.Pro80Ala)
|
|
|
NM_000181.4(GUSB):c.240C>T (p.Pro80=)
|
|
|
NM_000181.4(GUSB):c.245G>A (p.Ser82Asn)
|
|
|
NM_000181.4(GUSB):c.24C>T (p.Ala8=)
|
|
|
NM_000181.4(GUSB):c.24del (p.Trp9fs)
|
|
|
NM_000181.4(GUSB):c.251A>G (p.Asn84Ser)
|
|
|
NM_000181.4(GUSB):c.252T>C (p.Asn84=)
|
|
|
NM_000181.4(GUSB):c.288C>T (p.Val96=)
|
|
|
NM_000181.4(GUSB):c.297G>A (p.Val99=)
|
|
|
NM_000181.4(GUSB):c.303C>T (p.Tyr101=)
|
|
|
NM_000181.4(GUSB):c.306A>G (p.Glu102=)
|
rs2116042007
|
|
NM_000181.4(GUSB):c.309G>A (p.Arg103=)
|
|
|
NM_000181.4(GUSB):c.30G>A (p.Ala10=)
|
|
|
NM_000181.4(GUSB):c.320del (p.Leu107fs)
|
|
|
NM_000181.4(GUSB):c.325G>T (p.Glu109Ter)
|
|
|
NM_000181.4(GUSB):c.338A>G (p.Gln113Arg)
|
rs1791915416
|
|
NM_000181.4(GUSB):c.342C>T (p.Asp114=)
|
|
|
NM_000181.4(GUSB):c.366G>A (p.Arg122=)
|
|
|
NM_000181.4(GUSB):c.36C>T (p.Leu12=)
|
|
|
NM_000181.4(GUSB):c.373A>C (p.Ser125Arg)
|
rs2116040590
|
|
NM_000181.4(GUSB):c.383C>T (p.Ser128Phe)
|
|
|
NM_000181.4(GUSB):c.38G>A (p.Gly13Glu)
|
rs1237078772
|
|
NM_000181.4(GUSB):c.390C>T (p.Ala130=)
|
|
|
NM_000181.4(GUSB):c.393C>T (p.Ile131=)
|
|
|
NM_000181.4(GUSB):c.396+13A>G
|
|
|
NM_000181.4(GUSB):c.396+14G>A
|
|
|
NM_000181.4(GUSB):c.396+15G>C
|
|
|
NM_000181.4(GUSB):c.396+17G>A
|
|
|
NM_000181.4(GUSB):c.396+1G>A
|
|
|
NM_000181.4(GUSB):c.396+8C>T
|
|
|
NM_000181.4(GUSB):c.396+9G>A
|
|
|
NM_000181.4(GUSB):c.397-10G>A
|
|
|
NM_000181.4(GUSB):c.397-10G>C
|
|
|
NM_000181.4(GUSB):c.397-15C>T
|
|
|
NM_000181.4(GUSB):c.397-19G>T
|
|
|
NM_000181.4(GUSB):c.397-20dup
|
rs765594686
|
|
NM_000181.4(GUSB):c.397-9del
|
|
|
NM_000181.4(GUSB):c.408G>A (p.Gly136=)
|
|
|
NM_000181.4(GUSB):c.411C>T (p.Val137=)
|
|
|
NM_000181.4(GUSB):c.417G>A (p.Thr139=)
|
|
|
NM_000181.4(GUSB):c.420A>C (p.Leu140=)
|
|
|
NM_000181.4(GUSB):c.429G>A (p.Glu143=)
|
|
|
NM_000181.4(GUSB):c.429G>T (p.Glu143Asp)
|
|
|
NM_000181.4(GUSB):c.42G>T (p.Pro14=)
|
|
|
NM_000181.4(GUSB):c.434del (p.Gly145fs)
|
|
|
NM_000181.4(GUSB):c.444C>T (p.Pro148=)
|
|
|
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp)
|
rs764486500
|
|
NM_000181.4(GUSB):c.453C>G (p.Ala151=)
|
rs144397476
|
|
NM_000181.4(GUSB):c.453C>T (p.Ala151=)
|
|
|
NM_000181.4(GUSB):c.456C>T (p.Asp152=)
|
rs1420034681
|
|
NM_000181.4(GUSB):c.45G>A (p.Leu15=)
|
rs886062404
|
|
NM_000181.4(GUSB):c.462C>T (p.Ser154=)
|
|
|
NM_000181.4(GUSB):c.464_475del (p.Asn155_Val159delinsMet)
|
|
|
NM_000181.4(GUSB):c.465C>G (p.Asn155Lys)
|
|
|
NM_000181.4(GUSB):c.466C>T (p.Leu156=)
|
rs1410086265
|
|
NM_000181.4(GUSB):c.484C>T (p.Leu162=)
|
|
|
NM_000181.4(GUSB):c.486G>A (p.Leu162=)
|
|
|
NM_000181.4(GUSB):c.48G>A (p.Leu16=)
|
|
|
NM_000181.4(GUSB):c.492C>T (p.Ser164=)
|
|
|
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter)
|
|
|
NM_000181.4(GUSB):c.501A>C (p.Arg167=)
|
|
|
NM_000181.4(GUSB):c.507dup (p.Ile170fs)
|
|
|
NM_000181.4(GUSB):c.525A>G (p.Thr175=)
|
|
|
NM_000181.4(GUSB):c.527_530del (p.Leu176fs)
|
|
|
NM_000181.4(GUSB):c.532C>T (p.Pro178Ser)
|
rs11559281
|
|
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile)
|
rs1427132394
|
|
NM_000181.4(GUSB):c.552G>A (p.Gly184=)
|
rs768029322
|
|
NM_000181.4(GUSB):c.555C>G (p.Thr185=)
|
|
|
NM_000181.4(GUSB):c.555C>T (p.Thr185=)
|
|
|
NM_000181.4(GUSB):c.556A>C (p.Ile186Leu)
|
|
|
NM_000181.4(GUSB):c.560_581+13del
|
|
|
NM_000181.4(GUSB):c.570T>C (p.Thr190=)
|
|
|
NM_000181.4(GUSB):c.57C>T (p.Cys19=)
|
rs573989102
|
|
NM_000181.4(GUSB):c.581+10A>G
|
rs1233559582
|
|
NM_000181.4(GUSB):c.581+12C>G
|
|
|
NM_000181.4(GUSB):c.581+17C>T
|
|
|
NM_000181.4(GUSB):c.581+1G>A
|
|
|
NM_000181.4(GUSB):c.581+20C>T
|
|
|
NM_000181.4(GUSB):c.581+8C>G
|
|
|
NM_000181.4(GUSB):c.581+9C>T
|
|
|
NM_000181.4(GUSB):c.582-12C>G
|
|
|
NM_000181.4(GUSB):c.582-12C>T
|
|
|
NM_000181.4(GUSB):c.582-15G>A
|
|
|
NM_000181.4(GUSB):c.582-19C>G
|
|
|
NM_000181.4(GUSB):c.582-20C>G
|
|
|
NM_000181.4(GUSB):c.582-7A>C
|
|
|
NM_000181.4(GUSB):c.582-9C>T
|
|
|
NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)
|
|
|
NM_000181.4(GUSB):c.60G>A (p.Ala20=)
|
|
|
NM_000181.4(GUSB):c.612A>G (p.Thr204=)
|
|
|
NM_000181.4(GUSB):c.614A>G (p.Tyr205Cys)
|
rs2116029247
|
|
NM_000181.4(GUSB):c.615T>C (p.Tyr205=)
|
|
|
NM_000181.4(GUSB):c.621C>T (p.Asp207=)
|
|
|
NM_000181.4(GUSB):c.639A>G (p.Gly213=)
|
|
|
NM_000181.4(GUSB):c.643C>T (p.Gln215Ter)
|
|
|
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln)
|
rs1791836120
|
|
NM_000181.4(GUSB):c.657T>G (p.Leu219=)
|
rs764393614
|
|
NM_000181.4(GUSB):c.658C>T (p.Leu220=)
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NM_000181.4(GUSB):c.666G>T (p.Thr222=)
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NM_000181.4(GUSB):c.66G>A (p.Gly22=)
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NM_000181.4(GUSB):c.66G>T (p.Gly22=)
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NM_000181.4(GUSB):c.684C>T (p.Ile228=)
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rs375590538
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NM_000181.4(GUSB):c.694A>G (p.Thr232Ala)
|
rs1332406445
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NM_000181.4(GUSB):c.695C>T (p.Thr232Ile)
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NM_000181.4(GUSB):c.696C>T (p.Thr232=)
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NM_000181.4(GUSB):c.6C>G (p.Ala2=)
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NM_000181.4(GUSB):c.6C>T (p.Ala2=)
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NM_000181.4(GUSB):c.708C>T (p.Ser236=)
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NM_000181.4(GUSB):c.724+17G>C
|
rs2116026712
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NM_000181.4(GUSB):c.724+1G>T
|
rs2116026958
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NM_000181.4(GUSB):c.725-11G>A
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NM_000181.4(GUSB):c.725-12T>C
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NM_000181.4(GUSB):c.725-14C>A
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NM_000181.4(GUSB):c.725-18C>A
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NM_000181.4(GUSB):c.725-18C>G
|
rs754699640
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NM_000181.4(GUSB):c.725-18C>T
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|
|
NM_000181.4(GUSB):c.725-18CT[2]
|
rs1173385478
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NM_000181.4(GUSB):c.725-4G>A
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NM_000181.4(GUSB):c.725-7C>G
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NM_000181.4(GUSB):c.725-8dup
|
rs768444459
|
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NM_000181.4(GUSB):c.727C>T (p.Leu243=)
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NM_000181.4(GUSB):c.729G>A (p.Leu243=)
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NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)
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NM_000181.4(GUSB):c.738C>T (p.Tyr246=)
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NM_000181.4(GUSB):c.739C>T (p.Gln247Ter)
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NM_000181.4(GUSB):c.744C>T (p.Ile248=)
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NM_000181.4(GUSB):c.74dup (p.Gly26fs)
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NM_000181.4(GUSB):c.75C>T (p.Gly25=)
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NM_000181.4(GUSB):c.762C>T (p.Asn254=)
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|
NM_000181.4(GUSB):c.765G>T (p.Leu255=)
|
rs2115977392
|
|
NM_000181.4(GUSB):c.768C>T (p.Phe256=)
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|
NM_000181.4(GUSB):c.76_79dup (p.Met27fs)
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NM_000181.4(GUSB):c.781C>G (p.Arg261Gly)
|
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NM_000181.4(GUSB):c.78G>T (p.Gly26=)
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NM_000181.4(GUSB):c.792T>C (p.Asp264=)
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|
NM_000181.4(GUSB):c.805G>C (p.Val269Leu)
|
rs755211573
|
|
NM_000181.4(GUSB):c.808G>A (p.Val270Met)
|
|
|
NM_000181.4(GUSB):c.812C>A (p.Ala271Glu)
|
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NM_000181.4(GUSB):c.812C>T (p.Ala271Val)
|
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NM_000181.4(GUSB):c.813G>T (p.Ala271=)
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NM_000181.4(GUSB):c.828C>T (p.Thr276=)
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NM_000181.4(GUSB):c.867_871del (p.Trp289_Tyr291delinsTer)
|
|
|
NM_000181.4(GUSB):c.873C>T (p.Tyr291=)
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|
|
NM_000181.4(GUSB):c.87C>T (p.Tyr29=)
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|
|
NM_000181.4(GUSB):c.882C>T (p.His294=)
|
rs766837276
|
|
NM_000181.4(GUSB):c.883G>A (p.Glu295Lys)
|
|
|
NM_000181.4(GUSB):c.906A>G (p.Ser302=)
|
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|
NM_000181.4(GUSB):c.907T>C (p.Leu303=)
|
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|
NM_000181.4(GUSB):c.90C>G (p.Pro30=)
|
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|
NM_000181.4(GUSB):c.90C>T (p.Pro30=)
|
|
|
NM_000181.4(GUSB):c.912+15G>C
|
|
|
NM_000181.4(GUSB):c.912+18C>G
|
|
|
NM_000181.4(GUSB):c.912+19A>G
|
|
|
NM_000181.4(GUSB):c.913-16G>A
|
rs2115962921
|
|
NM_000181.4(GUSB):c.913-17T>C
|
|
|
NM_000181.4(GUSB):c.913-18G>C
|
|
|
NM_000181.4(GUSB):c.916C>T (p.Gln306Ter)
|
|
|
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter)
|
|
|
NM_000181.4(GUSB):c.927A>C (p.Ala309=)
|
|
|
NM_000181.4(GUSB):c.932dup (p.Ser312fs)
|
|
|
NM_000181.4(GUSB):c.937C>T (p.Leu313=)
|
|
|
NM_000181.4(GUSB):c.93G>A (p.Gln31=)
|
|
|
NM_000181.4(GUSB):c.942G>A (p.Gly314=)
|
|
|
NM_000181.4(GUSB):c.945T>C (p.Pro315=)
|
|
|
NM_000181.4(GUSB):c.948G>A (p.Val316=)
|
|
|
NM_000181.4(GUSB):c.953A>G (p.Asp318Gly)
|
|
|
NM_000181.4(GUSB):c.954C>T (p.Asp318=)
|
|
|
NM_000181.4(GUSB):c.960C>T (p.Tyr320=)
|
|
|
NM_000181.4(GUSB):c.963A>T (p.Thr321=)
|
|
|
NM_000181.4(GUSB):c.966C>A (p.Leu322=)
|
|
|
NM_000181.4(GUSB):c.970G>A (p.Val324Met)
|
|
|
NM_000181.4(GUSB):c.979C>T (p.Arg327Cys)
|
|
|
NM_000181.4(GUSB):c.99C>T (p.Ser33=)
|
|
|
NM_000181.4(GUSB):c.9G>T (p.Arg3=)
|
|
|