NM_207346.3(TSEN54):c.1122G>C (p.Arg374=)
|
rs6501820
|
0.89534
|
NM_207346.3(TSEN54):c.285+32C>A
|
rs7218675
|
0.64612
|
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val)
|
rs8064529
|
0.63819
|
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)
|
rs9911502
|
0.58492
|
NM_207346.2(TSEN54):c.-337A>G
|
rs62088461
|
0.30262
|
NM_207346.2(TSEN54):c.-288A>C
|
rs62088462
|
0.30241
|
NM_207346.3(TSEN54):c.1253-219A>C
|
rs62088468
|
0.23247
|
NM_207346.3(TSEN54):c.521+109A>G
|
rs55786842
|
0.23074
|
NM_207346.3(TSEN54):c.469-132A>G
|
rs62088466
|
0.22899
|
NM_207346.3(TSEN54):c.1314-155T>C
|
rs62088469
|
0.20335
|
NM_207346.3(TSEN54):c.114T>G (p.His38Gln)
|
rs8079373
|
0.19277
|
NM_207346.3(TSEN54):c.285+3G>A
|
rs8074291
|
0.19227
|
NM_207346.3(TSEN54):c.333C>G (p.Arg111=)
|
rs6501818
|
0.19222
|
NC_000017.11:g.75516305C>T
|
rs73362233
|
0.19202
|
NC_000017.11:g.75516282C>T
|
rs72851941
|
0.19177
|
NM_207346.3(TSEN54):c.369+109A>G
|
rs6501819
|
0.19102
|
NM_207346.3(TSEN54):c.468+278A>G
|
rs56311450
|
0.18654
|
NM_207346.3(TSEN54):c.468+260C>T
|
rs60973410
|
0.15985
|
NM_207346.3(TSEN54):c.370-19C>A
|
rs56895494
|
0.12137
|
NM_207346.3(TSEN54):c.468+131G>A
|
rs58787501
|
0.12136
|
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)
|
rs11559205
|
0.09934
|
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro)
|
rs77247739
|
0.09564
|
NM_207346.3(TSEN54):c.1314-76G>A
|
rs72851947
|
0.09540
|
NM_207346.3(TSEN54):c.468+258C>T
|
rs72851942
|
0.09505
|
NM_207346.3(TSEN54):c.521+39C>T
|
rs57636645
|
0.06538
|
NM_207346.3(TSEN54):c.624-37A>C
|
rs73998306
|
0.06523
|
NM_207346.3(TSEN54):c.1573G>C (p.Gly525Arg)
|
rs11870627
|
0.05898
|
NM_207346.3(TSEN54):c.1314-160G>A
|
rs28367187
|
0.05036
|
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala)
|
rs62088470
|
0.04801
|
NM_207346.3(TSEN54):c.568G>A (p.Val190Met)
|
rs79508780
|
0.04141
|
NM_207346.3(TSEN54):c.469-182G>A
|
rs150137481
|
0.02584
|
NM_207346.3(TSEN54):c.222-18C>T
|
rs113255333
|
0.02242
|
NM_207346.3(TSEN54):c.369+57G>C
|
rs117195747
|
0.02205
|
NM_207346.3(TSEN54):c.624-9G>A
|
rs138719855
|
0.01485
|
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp)
|
rs144662042
|
0.01362
|
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys)
|
rs150169668
|
0.01002
|
NM_207346.3(TSEN54):c.522-142G>T
|
rs149193674
|
0.01001
|
NM_207346.3(TSEN54):c.522-64A>G
|
rs145821642
|
0.00777
|
NM_207346.3(TSEN54):c.370-148A>T
|
rs112181254
|
0.00548
|
NM_207346.3(TSEN54):c.1253-163G>A
|
rs147987206
|
0.00333
|
NM_207346.3(TSEN54):c.521+60C>T
|
rs138082130
|
0.00331
|
NM_207346.3(TSEN54):c.*169T>C
|
rs111972085
|
0.00317
|
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His)
|
rs369805010
|
0.00193
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_207346.3(TSEN54):c.468+17C>T
|
rs200079036
|
0.00107
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_207346.3(TSEN54):c.959C>T (p.Pro320Leu)
|
rs189860274
|
0.00084
|
NM_207346.3(TSEN54):c.285+12G>A
|
rs373044979
|
0.00080
|
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=)
|
rs138560086
|
0.00075
|
NM_207346.3(TSEN54):c.692C>T (p.Pro231Leu)
|
rs141249409
|
0.00070
|
NM_207346.3(TSEN54):c.767G>A (p.Gly256Asp)
|
rs200683263
|
0.00061
|
NM_207346.3(TSEN54):c.221+17C>T
|
rs556041813
|
0.00054
|
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly)
|
rs148146916
|
0.00053
|
NM_207346.3(TSEN54):c.766G>A (p.Gly256Ser)
|
rs200015685
|
0.00049
|
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)
|
rs200434678
|
0.00045
|
NM_207346.3(TSEN54):c.537G>A (p.Pro179=)
|
rs113016401
|
0.00044
|
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln)
|
rs200228117
|
0.00041
|
NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln)
|
rs201948434
|
0.00038
|
NM_207346.3(TSEN54):c.984T>C (p.Ala328=)
|
rs776960594
|
0.00028
|
NM_207346.3(TSEN54):c.1063C>T (p.His355Tyr)
|
rs727504183
|
0.00024
|
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val)
|
rs368377822
|
0.00019
|
NM_207346.3(TSEN54):c.521+19C>T
|
rs201826966
|
0.00019
|
NM_207346.3(TSEN54):c.827G>T (p.Gly276Val)
|
rs777546135
|
0.00018
|
NM_207346.3(TSEN54):c.221+14G>C
|
rs773650690
|
0.00017
|
NM_207346.3(TSEN54):c.623+4A>G
|
rs1346057234
|
0.00016
|
NM_207346.3(TSEN54):c.991G>A (p.Glu331Lys)
|
rs773368581
|
0.00016
|
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp)
|
rs147165460
|
0.00015
|
NM_207346.3(TSEN54):c.623+16C>T
|
rs371048727
|
0.00014
|
NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys)
|
rs377207901
|
0.00014
|
NM_207346.3(TSEN54):c.1057C>T (p.Arg353Trp)
|
rs200540627
|
0.00013
|
NM_207346.3(TSEN54):c.437C>A (p.Thr146Asn)
|
rs201623351
|
0.00013
|
NM_207346.3(TSEN54):c.753G>T (p.Met251Ile)
|
rs375386151
|
0.00012
|
NM_207346.3(TSEN54):c.1252+6C>T
|
rs977124000
|
0.00010
|
NM_207346.3(TSEN54):c.1173G>C (p.Gln391His)
|
rs577958629
|
0.00009
|
NM_207346.3(TSEN54):c.862G>A (p.Val288Ile)
|
rs199682817
|
0.00009
|
NM_207346.3(TSEN54):c.1314-20G>A
|
rs377740590
|
0.00008
|
NM_207346.3(TSEN54):c.1452C>T (p.Asp484=)
|
rs767631739
|
0.00008
|
NM_207346.3(TSEN54):c.624-10C>T
|
rs368876457
|
0.00008
|
NM_207346.3(TSEN54):c.668C>T (p.Pro223Leu)
|
rs767591488
|
0.00008
|
NM_207346.3(TSEN54):c.1035G>C (p.Lys345Asn)
|
rs376308638
|
0.00007
|
NM_207346.3(TSEN54):c.1071G>A (p.Ala357=)
|
rs371212469
|
0.00007
|
NM_207346.3(TSEN54):c.468+8C>T
|
rs117456384
|
0.00007
|
NM_207346.3(TSEN54):c.881G>A (p.Arg294Gln)
|
rs150805182
|
0.00006
|
NM_207346.3(TSEN54):c.1430+5G>A
|
rs367823640
|
0.00005
|
NM_207346.3(TSEN54):c.709C>T (p.Pro237Ser)
|
rs745470927
|
0.00005
|
NM_207346.3(TSEN54):c.802C>T (p.Pro268Ser)
|
rs757862450
|
0.00005
|
NM_207346.3(TSEN54):c.988C>T (p.Arg330Trp)
|
rs748429211
|
0.00005
|
NM_207346.3(TSEN54):c.108C>T (p.Arg36=)
|
rs775687022
|
0.00004
|
NM_207346.3(TSEN54):c.1313+20C>T
|
rs375520204
|
0.00004
|
NM_207346.3(TSEN54):c.1365C>T (p.Ala455=)
|
rs763099057
|
0.00004
|
NM_207346.3(TSEN54):c.153G>C (p.Gln51His)
|
rs755967065
|
0.00004
|
NM_207346.3(TSEN54):c.567C>T (p.Ser189=)
|
rs767578722
|
0.00004
|
NM_207346.3(TSEN54):c.1008C>T (p.Ser336=)
|
rs370298156
|
0.00003
|
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)
|
rs143604970
|
0.00003
|
NM_207346.3(TSEN54):c.1088A>G (p.Gln363Arg)
|
rs371709232
|
0.00003
|
NM_207346.3(TSEN54):c.1181A>G (p.Gln394Arg)
|
rs560589823
|
0.00003
|
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln)
|
rs151332020
|
0.00003
|
NM_207346.3(TSEN54):c.1469G>A (p.Arg490Gln)
|
rs141950888
|
0.00003
|
NM_207346.3(TSEN54):c.176G>A (p.Arg59Gln)
|
rs886043563
|
0.00003
|
NM_207346.3(TSEN54):c.587G>A (p.Gly196Glu)
|
rs377382148
|
0.00003
|
NM_207346.3(TSEN54):c.1159C>T (p.Arg387Trp)
|
rs941059094
|
0.00002
|
NM_207346.3(TSEN54):c.370-2A>G
|
rs762922379
|
0.00002
|
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)
|
rs774157225
|
0.00002
|
NM_207346.3(TSEN54):c.521+7C>T
|
rs764509322
|
0.00002
|
NM_207346.3(TSEN54):c.720C>T (p.Cys240=)
|
rs372368367
|
0.00002
|
NM_207346.3(TSEN54):c.851C>T (p.Ala284Val)
|
rs1298711128
|
0.00002
|
NM_207346.3(TSEN54):c.867G>A (p.Thr289=)
|
rs751120868
|
0.00002
|
NM_207346.3(TSEN54):c.914A>G (p.Asn305Ser)
|
rs776796485
|
0.00002
|
NM_207346.3(TSEN54):c.989G>A (p.Arg330Gln)
|
rs769945102
|
0.00002
|
NM_207346.3(TSEN54):c.1000G>A (p.Ala334Thr)
|
rs886042169
|
0.00001
|
NM_207346.3(TSEN54):c.1074G>A (p.Glu358=)
|
rs775864125
|
0.00001
|
NM_207346.3(TSEN54):c.1078G>A (p.Ala360Thr)
|
rs374200799
|
0.00001
|
NM_207346.3(TSEN54):c.1080G>A (p.Ala360=)
|
rs958076524
|
0.00001
|
NM_207346.3(TSEN54):c.1135C>T (p.Arg379Trp)
|
rs761392770
|
0.00001
|
NM_207346.3(TSEN54):c.1156C>T (p.Gln386Ter)
|
rs1337062385
|
0.00001
|
NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp)
|
rs542013784
|
0.00001
|
NM_207346.3(TSEN54):c.1276G>A (p.Val426Met)
|
rs747473434
|
0.00001
|
NM_207346.3(TSEN54):c.1314-12T>C
|
rs1431937286
|
0.00001
|
NM_207346.3(TSEN54):c.1527C>T (p.Asp509=)
|
rs201415896
|
0.00001
|
NM_207346.3(TSEN54):c.1552T>C (p.Phe518Leu)
|
rs749096965
|
0.00001
|
NM_207346.3(TSEN54):c.158A>G (p.Glu53Gly)
|
rs1180659663
|
0.00001
|
NM_207346.3(TSEN54):c.159G>A (p.Glu53=)
|
rs1443094124
|
0.00001
|
NM_207346.3(TSEN54):c.181G>A (p.Glu61Lys)
|
rs1438493791
|
0.00001
|
NM_207346.3(TSEN54):c.195G>A (p.Leu65=)
|
rs768783066
|
0.00001
|
NM_207346.3(TSEN54):c.197T>C (p.Leu66Pro)
|
rs1388222262
|
0.00001
|
NM_207346.3(TSEN54):c.200C>T (p.Ala67Val)
|
rs1326441166
|
0.00001
|
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro)
|
rs113994151
|
0.00001
|
NM_207346.3(TSEN54):c.278C>T (p.Ser93Phe)
|
rs1289867668
|
0.00001
|
NM_207346.3(TSEN54):c.284C>T (p.Ala95Val)
|
rs1385660656
|
0.00001
|
NM_207346.3(TSEN54):c.367T>A (p.Cys123Ser)
|
rs1484028244
|
0.00001
|
NM_207346.3(TSEN54):c.394G>A (p.Asp132Asn)
|
rs750942705
|
0.00001
|
NM_207346.3(TSEN54):c.506G>A (p.Arg169Gln)
|
rs768076552
|
0.00001
|
NM_207346.3(TSEN54):c.623+17G>A
|
rs748640953
|
0.00001
|
NM_207346.3(TSEN54):c.639G>A (p.Lys213=)
|
rs763951969
|
0.00001
|
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs)
|
rs762142684
|
0.00001
|
NM_207346.3(TSEN54):c.745A>C (p.Ser249Arg)
|
rs761784110
|
0.00001
|
NM_207346.3(TSEN54):c.810G>A (p.Pro270=)
|
rs535814124
|
0.00001
|
NM_207346.3(TSEN54):c.909C>G (p.Phe303Leu)
|
rs199874361
|
0.00001
|
NM_207346.3(TSEN54):c.932G>A (p.Arg311His)
|
rs773833320
|
0.00001
|
NM_207346.3(TSEN54):c.949G>A (p.Ala317Thr)
|
rs201125812
|
0.00001
|
NM_207346.3(TSEN54):c.964C>G (p.Leu322Val)
|
rs587784480
|
0.00001
|
NM_207346.3(TSEN54):c.1005G>A (p.Glu335=)
|
|
|
NM_207346.3(TSEN54):c.1028A>C (p.Gln343Pro)
|
rs994403512
|
|
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr)
|
rs1568003520
|
|
NM_207346.3(TSEN54):c.103dup (p.Gln35fs)
|
rs2147005509
|
|
NM_207346.3(TSEN54):c.1052G>A (p.Arg351Gln)
|
|
|
NM_207346.3(TSEN54):c.1053G>A (p.Arg351=)
|
|
|
NM_207346.3(TSEN54):c.1056A>G (p.Glu352=)
|
|
|
NM_207346.3(TSEN54):c.1057C>A (p.Arg353=)
|
|
|
NM_207346.3(TSEN54):c.1060G>C (p.Glu354Gln)
|
|
|
NM_207346.3(TSEN54):c.1060_1078dup (p.Ala360fs)
|
rs767505004
|
|
NM_207346.3(TSEN54):c.1061A>G (p.Glu354Gly)
|
|
|
NM_207346.3(TSEN54):c.1062_1091del (p.His355_Glu364del)
|
|
|
NM_207346.3(TSEN54):c.1064A>G (p.His355Arg)
|
|
|
NM_207346.3(TSEN54):c.1065C>T (p.His355=)
|
|
|
NM_207346.3(TSEN54):c.1068C>A (p.His356Gln)
|
|
|
NM_207346.3(TSEN54):c.1068C>T (p.His356=)
|
rs774893413
|
|
NM_207346.3(TSEN54):c.1077C>T (p.Ala359=)
|
|
|
NM_207346.3(TSEN54):c.1078G>C (p.Ala360Pro)
|
|
|
NM_207346.3(TSEN54):c.1087C>T (p.Gln363Ter)
|
|
|
NM_207346.3(TSEN54):c.1091A>G (p.Glu364Gly)
|
|
|
NM_207346.3(TSEN54):c.1101C>T (p.Asn367=)
|
|
|
NM_207346.3(TSEN54):c.1104C>G (p.Ala368=)
|
|
|
NM_207346.3(TSEN54):c.1104C>T (p.Ala368=)
|
rs543439426
|
|
NM_207346.3(TSEN54):c.1105G>A (p.Asp369Asn)
|
|
|
NM_207346.3(TSEN54):c.1107_1112dup (p.Pro370_Glu371insAspPro)
|
|
|
NM_207346.3(TSEN54):c.110C>G (p.Ser37Trp)
|
|
|
NM_207346.3(TSEN54):c.1110C>T (p.Pro370=)
|
|
|
NM_207346.3(TSEN54):c.1111G>A (p.Glu371Lys)
|
rs398124621
|
|
NM_207346.3(TSEN54):c.1111G>T (p.Glu371Ter)
|
|
|
NM_207346.3(TSEN54):c.1117C>T (p.Gln373Ter)
|
rs778884343
|
|
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly)
|
rs201351319
|
|
NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly)
|
rs1555644694
|
|
NM_207346.3(TSEN54):c.1121G>A (p.Arg374Gln)
|
|
|
NM_207346.3(TSEN54):c.1130G>T (p.Ser377Ile)
|
|
|
NM_207346.3(TSEN54):c.1140G>A (p.Glu380=)
|
|
|
NM_207346.3(TSEN54):c.1153C>T (p.Leu385=)
|
|
|
NM_207346.3(TSEN54):c.1160G>A (p.Arg387Gln)
|
rs1055536776
|
|
NM_207346.3(TSEN54):c.1161G>A (p.Arg387=)
|
|
|
NM_207346.3(TSEN54):c.1162C>A (p.Arg388=)
|
|
|
NM_207346.3(TSEN54):c.1162C>T (p.Arg388Trp)
|
|
|
NM_207346.3(TSEN54):c.1163G>C (p.Arg388Pro)
|
rs796181199
|
|
NM_207346.3(TSEN54):c.1166_1167delinsCC (p.Gln389Pro)
|
rs886043264
|
|
NM_207346.3(TSEN54):c.1172_1185del (p.Gln391fs)
|
rs886037629
|
|
NM_207346.3(TSEN54):c.1175G>C (p.Arg392Thr)
|
|
|
NM_207346.3(TSEN54):c.1176G>A (p.Arg392=)
|
|
|
NM_207346.3(TSEN54):c.1183C>G (p.Arg395Gly)
|
rs572964665
|
|
NM_207346.3(TSEN54):c.1187G>A (p.Arg396Gln)
|
|
|
NM_207346.3(TSEN54):c.1190C>T (p.Ala397Val)
|
|
|
NM_207346.3(TSEN54):c.1191C>T (p.Ala397=)
|
|
|
NM_207346.3(TSEN54):c.1198C>T (p.Leu400=)
|
|
|
NM_207346.3(TSEN54):c.1207C>T (p.Gln403Ter)
|
|
|
NM_207346.3(TSEN54):c.1212C>T (p.Pro404=)
|
|
|
NM_207346.3(TSEN54):c.1218C>T (p.Thr406=)
|
|
|
NM_207346.3(TSEN54):c.1220C>T (p.Pro407Leu)
|
rs958213919
|
|
NM_207346.3(TSEN54):c.1221G>A (p.Pro407=)
|
|
|
NM_207346.3(TSEN54):c.1224G>T (p.Leu408=)
|
|
|
NM_207346.3(TSEN54):c.1236C>T (p.Gly412=)
|
|
|
NM_207346.3(TSEN54):c.1239G>C (p.Gln413His)
|
rs2147013922
|
|
NM_207346.3(TSEN54):c.123G>A (p.Lys41=)
|
|
|
NM_207346.3(TSEN54):c.1242C>T (p.Ala414=)
|
|
|
NM_207346.3(TSEN54):c.1252+149G>C
|
rs67746118
|
|
NM_207346.3(TSEN54):c.1252+14C>T
|
|
|
NM_207346.3(TSEN54):c.1252+15T>A
|
|
|
NM_207346.3(TSEN54):c.1252+16G>A
|
|
|
NM_207346.3(TSEN54):c.1252+17C>A
|
|
|
NM_207346.3(TSEN54):c.1252+1G>A
|
|
|
NM_207346.3(TSEN54):c.1253-13dup
|
|
|
NM_207346.3(TSEN54):c.1253-14C>T
|
|
|
NM_207346.3(TSEN54):c.1253-19_1253-17del
|
rs2147015493
|
|
NM_207346.3(TSEN54):c.1253-4_1263del
|
|
|
NM_207346.3(TSEN54):c.1253-8C>T
|
|
|
NM_207346.3(TSEN54):c.1254C>T (p.Ala418=)
|
|
|
NM_207346.3(TSEN54):c.1264C>T (p.Gln422Ter)
|
|
|
NM_207346.3(TSEN54):c.126C>T (p.Asp42=)
|
|
|
NM_207346.3(TSEN54):c.1270A>G (p.Ile424Val)
|
|
|
NM_207346.3(TSEN54):c.1272C>T (p.Ile424=)
|
|
|
NM_207346.3(TSEN54):c.1275T>C (p.Ser425=)
|
|
|
NM_207346.3(TSEN54):c.1286_1301dup (p.Asp434_Gly435insAsnThrProSerTer)
|
|
|
NM_207346.3(TSEN54):c.1293C>T (p.His431=)
|
|
|
NM_207346.3(TSEN54):c.1294C>T (p.Leu432Phe)
|
|
|
NM_207346.3(TSEN54):c.1300G>C (p.Asp434His)
|
|
|
NM_207346.3(TSEN54):c.1309_1310delinsAT (p.Ala437Ile)
|
rs2147015701
|
|
NM_207346.3(TSEN54):c.1313+16G>A
|
|
|
NM_207346.3(TSEN54):c.1313+20C>G
|
|
|
NM_207346.3(TSEN54):c.1313+7T>C
|
rs1338860498
|
|
NM_207346.3(TSEN54):c.1313+9C>G
|
|
|
NM_207346.3(TSEN54):c.1314-13A>G
|
|
|
NM_207346.3(TSEN54):c.1314-19T>C
|
|
|
NM_207346.3(TSEN54):c.1314-5G>A
|
|
|
NM_207346.3(TSEN54):c.1317G>A (p.Leu439=)
|
|
|
NM_207346.3(TSEN54):c.132G>C (p.Leu44=)
|
|
|
NM_207346.3(TSEN54):c.135C>T (p.Pro45=)
|
|
|
NM_207346.3(TSEN54):c.1371T>C (p.Ala457=)
|
rs2147016622
|
|
NM_207346.3(TSEN54):c.1372G>A (p.Val458Met)
|
|
|
NM_207346.3(TSEN54):c.1377C>T (p.Ala459=)
|
|
|
NM_207346.3(TSEN54):c.1384C>T (p.Arg462Ter)
|
|
|
NM_207346.3(TSEN54):c.1388A>C (p.Lys463Thr)
|
|
|
NM_207346.3(TSEN54):c.138C>T (p.Asp46=)
|
|
|
NM_207346.3(TSEN54):c.1404A>G (p.Lys468=)
|
|
|
NM_207346.3(TSEN54):c.1410T>C (p.Tyr470=)
|
|
|
NM_207346.3(TSEN54):c.1414C>T (p.Arg472Trp)
|
|
|
NM_207346.3(TSEN54):c.1419G>A (p.Met473Ile)
|
|
|
NM_207346.3(TSEN54):c.1422C>T (p.Cys474=)
|
|
|
NM_207346.3(TSEN54):c.1429G>A (p.Gly477Arg)
|
|
|
NM_207346.3(TSEN54):c.1430+17C>T
|
|
|
NM_207346.3(TSEN54):c.1430+18A>G
|
|
|
NM_207346.3(TSEN54):c.1430+8G>A
|
rs2147017002
|
|
NM_207346.3(TSEN54):c.1431-10G>C
|
|
|
NM_207346.3(TSEN54):c.1431-16C>T
|
|
|
NM_207346.3(TSEN54):c.1431-20C>G
|
|
|
NM_207346.3(TSEN54):c.1431-20C>T
|
|
|
NM_207346.3(TSEN54):c.1431-2A>G
|
rs2147019225
|
|
NM_207346.3(TSEN54):c.1431-6C>T
|
|
|
NM_207346.3(TSEN54):c.1431-8C>T
|
|
|
NM_207346.3(TSEN54):c.1439A>G (p.Glu480Gly)
|
|
|
NM_207346.3(TSEN54):c.143C>T (p.Ser48Leu)
|
rs1479320072
|
|
NM_207346.3(TSEN54):c.1440G>A (p.Glu480=)
|
|
|
NM_207346.3(TSEN54):c.1443T>C (p.Pro481=)
|
rs762414335
|
|
NM_207346.3(TSEN54):c.144G>C (p.Ser48=)
|
|
|
NM_207346.3(TSEN54):c.145G>A (p.Ala49Thr)
|
|
|
NM_207346.3(TSEN54):c.1462C>G (p.Leu488Val)
|
rs2147019398
|
|
NM_207346.3(TSEN54):c.1470G>A (p.Arg490=)
|
|
|
NM_207346.3(TSEN54):c.1470G>T (p.Arg490=)
|
|
|
NM_207346.3(TSEN54):c.1503C>G (p.Ile501Met)
|
|
|
NM_207346.3(TSEN54):c.1515G>A (p.Val505=)
|
|
|
NM_207346.3(TSEN54):c.151C>G (p.Gln51Glu)
|
|
|
NM_207346.3(TSEN54):c.1520A>G (p.His507Arg)
|
|
|
NM_207346.3(TSEN54):c.1522G>A (p.Gly508Ser)
|
rs2053477029
|
|
NM_207346.3(TSEN54):c.1530C>A (p.Ile510=)
|
rs754461779
|
|
NM_207346.3(TSEN54):c.1533C>T (p.Ser511=)
|
|
|
NM_207346.3(TSEN54):c.1554C>T (p.Phe518=)
|
|
|
NM_207346.3(TSEN54):c.1557G>A (p.Thr519=)
|
|
|
NM_207346.3(TSEN54):c.1563C>T (p.Pro521=)
|
|
|
NM_207346.3(TSEN54):c.1564C>G (p.Gln522Glu)
|
|
|
NM_207346.3(TSEN54):c.1566G>A (p.Gln522=)
|
|
|
NM_207346.3(TSEN54):c.1575dup (p.His526fs)
|
|
|
NM_207346.3(TSEN54):c.1580G>A (p.Ter527=)
|
|
|
NM_207346.3(TSEN54):c.162G>A (p.Arg54=)
|
|
|
NM_207346.3(TSEN54):c.163C>T (p.Leu55=)
|
rs1376179043
|
|
NM_207346.3(TSEN54):c.165G>T (p.Leu55=)
|
|
|
NM_207346.3(TSEN54):c.174C>T (p.Cys58=)
|
|
|
NM_207346.3(TSEN54):c.175C>G (p.Arg59Gly)
|
|
|
NM_207346.3(TSEN54):c.190C>T (p.Gln64Ter)
|
|
|
NM_207346.3(TSEN54):c.197_198delinsGT (p.Leu66Arg)
|
|
|
NM_207346.3(TSEN54):c.200C>G (p.Ala67Gly)
|
|
|
NM_207346.3(TSEN54):c.203_204dup (p.Gln69fs)
|
|
|
NM_207346.3(TSEN54):c.210C>T (p.Arg70=)
|
|
|
NM_207346.3(TSEN54):c.211G>A (p.Val71Met)
|
|
|
NM_207346.3(TSEN54):c.221+10G>C
|
rs1598473557
|
|
NM_207346.3(TSEN54):c.221+11C>A
|
|
|
NM_207346.3(TSEN54):c.221+17dup
|
|
|
NM_207346.3(TSEN54):c.221+18A>G
|
|
|
NM_207346.3(TSEN54):c.221+1G>A
|
rs2147005854
|
|
NM_207346.3(TSEN54):c.221+6_221+7del
|
rs2147005865
|
|
NM_207346.3(TSEN54):c.221+7G>A
|
rs2147005874
|
|
NM_207346.3(TSEN54):c.222-13C>G
|
|
|
NM_207346.3(TSEN54):c.222-13del
|
|
|
NM_207346.3(TSEN54):c.222-15C>T
|
|
|
NM_207346.3(TSEN54):c.222-20C>G
|
|
|
NM_207346.3(TSEN54):c.222-20C>T
|
|
|
NM_207346.3(TSEN54):c.222-5G>T
|
|
|
NM_207346.3(TSEN54):c.222-7T>A
|
rs1555643725
|
|
NM_207346.3(TSEN54):c.222-8C>G
|
|
|
NM_207346.3(TSEN54):c.222-8C>T
|
|
|
NM_207346.3(TSEN54):c.222-9C>G
|
|
|
NM_207346.3(TSEN54):c.225C>T (p.Gly75=)
|
|
|
NM_207346.3(TSEN54):c.231G>A (p.Leu77=)
|
|
|
NM_207346.3(TSEN54):c.270G>A (p.Glu90=)
|
|
|
NM_207346.3(TSEN54):c.285+10G>A
|
|
|
NM_207346.3(TSEN54):c.285+14T>C
|
|
|
NM_207346.3(TSEN54):c.285+15C>T
|
|
|
NM_207346.3(TSEN54):c.285+15CGGGGAC[3]
|
|
|
NM_207346.3(TSEN54):c.285+16G>C
|
|
|
NM_207346.3(TSEN54):c.285+24_285+30del
|
|
|
NM_207346.3(TSEN54):c.285+30GCCCTCCCT[2]
|
rs58038334
|
|
NM_207346.3(TSEN54):c.285+42_286-38del
|
rs571824583
|
|
NM_207346.3(TSEN54):c.285+9C>G
|
rs200318170
|
|
NM_207346.3(TSEN54):c.285+9C>T
|
|
|
NM_207346.3(TSEN54):c.286-10C>T
|
|
|
NM_207346.3(TSEN54):c.286-1G>A
|
|
|
NM_207346.3(TSEN54):c.286-2_286-1del
|
|
|
NM_207346.3(TSEN54):c.286-6A>C
|
|
|
NM_207346.3(TSEN54):c.288C>T (p.Gly96=)
|
|
|
NM_207346.3(TSEN54):c.289A>C (p.Lys97Gln)
|
|
|
NM_207346.3(TSEN54):c.290_292del (p.Lys97_Phe98delinsIle)
|
rs750645536
|
|
NM_207346.3(TSEN54):c.291del (p.Lys97fs)
|
|
|
NM_207346.3(TSEN54):c.294C>T (p.Phe98=)
|
|
|
NM_207346.3(TSEN54):c.302C>G (p.Thr101Ser)
|
rs373908614
|
|
NM_207346.3(TSEN54):c.302_317del (p.Thr101fs)
|
|
|
NM_207346.3(TSEN54):c.303C>T (p.Thr101=)
|
|
|
NM_207346.3(TSEN54):c.309C>T (p.Gly103=)
|
|
|
NM_207346.3(TSEN54):c.312C>T (p.Phe104=)
|
rs2053381027
|
|
NM_207346.3(TSEN54):c.315A>G (p.Ser105=)
|
|
|
NM_207346.3(TSEN54):c.315A>T (p.Ser105=)
|
|
|
NM_207346.3(TSEN54):c.327G>C (p.Arg109=)
|
|
|
NM_207346.3(TSEN54):c.342G>C (p.Pro114=)
|
|
|
NM_207346.3(TSEN54):c.348G>A (p.Glu116=)
|
|
|
NM_207346.3(TSEN54):c.351C>T (p.Ala117=)
|
|
|
NM_207346.3(TSEN54):c.361C>T (p.Leu121=)
|
rs2147007085
|
|
NM_207346.3(TSEN54):c.369+11C>T
|
|
|
NM_207346.3(TSEN54):c.369+17A>G
|
|
|
NM_207346.3(TSEN54):c.369+4dup
|
|
|
NM_207346.3(TSEN54):c.369+6dup
|
|
|
NM_207346.3(TSEN54):c.369+93del
|
rs11316466
|
|
NM_207346.3(TSEN54):c.369+9G>A
|
|
|
NM_207346.3(TSEN54):c.370-11C>T
|
|
|
NM_207346.3(TSEN54):c.370-13G>A
|
|
|
NM_207346.3(TSEN54):c.370-17G>T
|
|
|
NM_207346.3(TSEN54):c.370-4C>G
|
|
|
NM_207346.3(TSEN54):c.370-6T>G
|
rs2147007790
|
|
NM_207346.3(TSEN54):c.370-9C>T
|
rs797046056
|
|
NM_207346.3(TSEN54):c.370G>A (p.Gly124Ser)
|
rs770694652
|
|
NM_207346.3(TSEN54):c.375C>T (p.Ser125=)
|
|
|
NM_207346.3(TSEN54):c.383T>A (p.Leu128His)
|
rs2147007841
|
|
NM_207346.3(TSEN54):c.384C>T (p.Leu128=)
|
|
|
NM_207346.3(TSEN54):c.397C>T (p.Leu133=)
|
|
|
NM_207346.3(TSEN54):c.423C>T (p.Tyr141=)
|
|
|
NM_207346.3(TSEN54):c.424C>T (p.Gln142Ter)
|
|
|
NM_207346.3(TSEN54):c.427C>A (p.Leu143Met)
|
|
|
NM_207346.3(TSEN54):c.430C>T (p.Leu144=)
|
|
|
NM_207346.3(TSEN54):c.435G>T (p.Leu145=)
|
|
|
NM_207346.3(TSEN54):c.438C>A (p.Thr146=)
|
|
|
NM_207346.3(TSEN54):c.444C>T (p.His148=)
|
|
|
NM_207346.3(TSEN54):c.449_450del (p.Val150fs)
|
|
|
NM_207346.3(TSEN54):c.453C>T (p.Thr151=)
|
|
|
NM_207346.3(TSEN54):c.456C>T (p.Phe152=)
|
|
|
NM_207346.3(TSEN54):c.457C>T (p.Leu153=)
|
|
|
NM_207346.3(TSEN54):c.465C>T (p.Tyr155=)
|
|
|
NM_207346.3(TSEN54):c.468+10A>G
|
|
|
NM_207346.3(TSEN54):c.468+16C>A
|
|
|
NM_207346.3(TSEN54):c.468+19C>T
|
|
|
NM_207346.3(TSEN54):c.468+20C>G
|
|
|
NM_207346.3(TSEN54):c.469-10T>C
|
|
|
NM_207346.3(TSEN54):c.469-11_469-9del
|
|
|
NM_207346.3(TSEN54):c.469-12_469-9del
|
rs553358538
|
|
NM_207346.3(TSEN54):c.469-13_469-9del
|
|
|
NM_207346.3(TSEN54):c.469-15T>C
|
|
|
NM_207346.3(TSEN54):c.469-4T>C
|
|
|
NM_207346.3(TSEN54):c.469-9T>C
|
|
|
NM_207346.3(TSEN54):c.469-9_469-8insG
|
|
|
NM_207346.3(TSEN54):c.469-9del
|
|
|
NM_207346.3(TSEN54):c.480C>T (p.His160=)
|
|
|
NM_207346.3(TSEN54):c.486_487insGGAG (p.Arg163fs)
|
|
|
NM_207346.3(TSEN54):c.498T>C (p.Tyr166=)
|
|
|
NM_207346.3(TSEN54):c.505C>T (p.Arg169Ter)
|
|
|
NM_207346.3(TSEN54):c.510A>C (p.Arg170=)
|
|
|
NM_207346.3(TSEN54):c.510A>T (p.Arg170=)
|
|
|
NM_207346.3(TSEN54):c.521+10C>T
|
|
|
NM_207346.3(TSEN54):c.521+14C>G
|
|
|
NM_207346.3(TSEN54):c.521+15_521+26del
|
|
|
NM_207346.3(TSEN54):c.521+16G>A
|
|
|
NM_207346.3(TSEN54):c.521+16G>C
|
|
|
NM_207346.3(TSEN54):c.521+1G>A
|
|
|
NM_207346.3(TSEN54):c.521G>A (p.Ser174Asn)
|
rs1057517911
|
|
NM_207346.3(TSEN54):c.522-15G>C
|
|
|
NM_207346.3(TSEN54):c.522-17C>T
|
|
|
NM_207346.3(TSEN54):c.522-18G>A
|
|
|
NM_207346.3(TSEN54):c.522-19C>G
|
|
|
NM_207346.3(TSEN54):c.522-19C>T
|
|
|
NM_207346.3(TSEN54):c.522-291_522-290insCAGT
|
rs146381969
|
|
NM_207346.3(TSEN54):c.522-8C>T
|
|
|
NM_207346.3(TSEN54):c.524_525del (p.Ser175fs)
|
rs1379866260
|
|
NM_207346.3(TSEN54):c.536C>G (p.Pro179Arg)
|
rs376310114
|
|
NM_207346.3(TSEN54):c.536C>T (p.Pro179Leu)
|
rs376310114
|
|
NM_207346.3(TSEN54):c.537G>T (p.Pro179=)
|
|
|
NM_207346.3(TSEN54):c.547C>A (p.Gln183Lys)
|
|
|
NM_207346.3(TSEN54):c.547C>T (p.Gln183Ter)
|
rs1555644470
|
|
NM_207346.3(TSEN54):c.556C>T (p.Leu186=)
|
|
|
NM_207346.3(TSEN54):c.564C>T (p.Ala188=)
|
|
|
NM_207346.3(TSEN54):c.568G>T (p.Val190Leu)
|
rs79508780
|
|
NM_207346.3(TSEN54):c.576C>T (p.His192=)
|
|
|
NM_207346.3(TSEN54):c.580dup (p.Glu194fs)
|
|
|
NM_207346.3(TSEN54):c.597G>A (p.Lys199=)
|
|
|
NM_207346.3(TSEN54):c.604_605del (p.Arg202fs)
|
|
|
NM_207346.3(TSEN54):c.613T>A (p.Ser205Thr)
|
|
|
NM_207346.3(TSEN54):c.614C>T (p.Ser205Phe)
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NM_207346.3(TSEN54):c.623+11C>T
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NM_207346.3(TSEN54):c.623+16C>A
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NM_207346.3(TSEN54):c.623+69_886del
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NM_207346.3(TSEN54):c.623+7C>T
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NM_207346.3(TSEN54):c.624-11A>G
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NM_207346.3(TSEN54):c.624-14C>T
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NM_207346.3(TSEN54):c.624-15C>T
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NM_207346.3(TSEN54):c.624-5C>T
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NM_207346.3(TSEN54):c.624-7C>T
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NM_207346.3(TSEN54):c.634AAG[1] (p.Lys213del)
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rs794727939
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NM_207346.3(TSEN54):c.636G>T (p.Lys212Asn)
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rs2147012981
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NM_207346.3(TSEN54):c.652G>A (p.Asp218Asn)
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NM_207346.3(TSEN54):c.663G>A (p.Leu221=)
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rs886053396
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NM_207346.3(TSEN54):c.669C>G (p.Pro223=)
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NM_207346.3(TSEN54):c.670A>T (p.Lys224Ter)
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NM_207346.3(TSEN54):c.684C>T (p.Ala228=)
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NM_207346.3(TSEN54):c.688A>G (p.Ser230Gly)
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NM_207346.3(TSEN54):c.690C>T (p.Ser230=)
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NM_207346.3(TSEN54):c.691C>T (p.Pro231Ser)
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rs972897786
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NM_207346.3(TSEN54):c.692del (p.Pro231fs)
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NM_207346.3(TSEN54):c.693A>G (p.Pro231=)
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NM_207346.3(TSEN54):c.696del (p.Cys234fs)
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NM_207346.3(TSEN54):c.702C>T (p.Cys234=)
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NM_207346.3(TSEN54):c.705C>T (p.Ser235=)
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NM_207346.3(TSEN54):c.707A>G (p.Gln236Arg)
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rs200904080
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NM_207346.3(TSEN54):c.708G>A (p.Gln236=)
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NM_207346.3(TSEN54):c.718T>C (p.Cys240Arg)
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NM_207346.3(TSEN54):c.734C>T (p.Pro245Leu)
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rs1276301439
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NM_207346.3(TSEN54):c.735C>T (p.Pro245=)
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NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter)
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rs113994153
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NM_207346.3(TSEN54):c.752T>G (p.Met251Arg)
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NM_207346.3(TSEN54):c.756G>A (p.Lys252=)
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NM_207346.3(TSEN54):c.767del (p.Gly256fs)
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NM_207346.3(TSEN54):c.771C>A (p.Pro257=)
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NM_207346.3(TSEN54):c.775C>T (p.Gln259Ter)
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rs2147013169
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NM_207346.3(TSEN54):c.789_798del (p.Leu264fs)
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NM_207346.3(TSEN54):c.793G>A (p.Gly265Ser)
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NM_207346.3(TSEN54):c.802C>G (p.Pro268Ala)
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rs757862450
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NM_207346.3(TSEN54):c.803C>G (p.Pro268Arg)
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rs2147013200
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NM_207346.3(TSEN54):c.804T>C (p.Pro268=)
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NM_207346.3(TSEN54):c.806G>C (p.Gly269Ala)
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rs2147013208
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NM_207346.3(TSEN54):c.810G>T (p.Pro270=)
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NM_207346.3(TSEN54):c.819G>A (p.Glu273=)
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NM_207346.3(TSEN54):c.820G>T (p.Gly274Trp)
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NM_207346.3(TSEN54):c.823G>C (p.Val275Leu)
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rs1040846492
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NM_207346.3(TSEN54):c.825G>A (p.Val275=)
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NM_207346.3(TSEN54):c.840G>A (p.Glu280=)
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NM_207346.3(TSEN54):c.846_856del (p.Ala284fs)
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NM_207346.3(TSEN54):c.852C>T (p.Ala284=)
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NM_207346.3(TSEN54):c.858C>G (p.Asn286Lys)
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NM_207346.3(TSEN54):c.858C>T (p.Asn286=)
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NM_207346.3(TSEN54):c.867G>C (p.Thr289=)
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NM_207346.3(TSEN54):c.867G>T (p.Thr289=)
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NM_207346.3(TSEN54):c.869dup (p.Ala291fs)
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NM_207346.3(TSEN54):c.873C>T (p.Ala291=)
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NM_207346.3(TSEN54):c.885C>T (p.Arg295=)
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NM_207346.3(TSEN54):c.887G>A (p.Trp296Ter)
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NM_207346.3(TSEN54):c.888G>C (p.Trp296Cys)
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NM_207346.3(TSEN54):c.901A>G (p.Ile301Val)
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NM_207346.3(TSEN54):c.909C>T (p.Phe303=)
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NM_207346.3(TSEN54):c.923C>A (p.Ser308Ter)
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NM_207346.3(TSEN54):c.933C>T (p.Arg311=)
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NM_207346.3(TSEN54):c.937A>T (p.Thr313Ser)
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NM_207346.3(TSEN54):c.939C>T (p.Thr313=)
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NM_207346.3(TSEN54):c.93G>A (p.Gln31=)
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NM_207346.3(TSEN54):c.940del (p.Leu314fs)
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rs1012275384
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NM_207346.3(TSEN54):c.946C>G (p.Arg316Gly)
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NM_207346.3(TSEN54):c.948C>G (p.Arg316=)
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NM_207346.3(TSEN54):c.948C>T (p.Arg316=)
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NM_207346.3(TSEN54):c.949G>T (p.Ala317Ser)
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rs201125812
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NM_207346.3(TSEN54):c.953del (p.Pro318fs)
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NM_207346.3(TSEN54):c.959C>G (p.Pro320Arg)
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rs189860274
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NM_207346.3(TSEN54):c.963G>A (p.Glu321=)
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NM_207346.3(TSEN54):c.971C>T (p.Pro324Leu)
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NM_207346.3(TSEN54):c.972G>A (p.Pro324=)
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NM_207346.3(TSEN54):c.977A>C (p.Asn326Thr)
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NM_207346.3(TSEN54):c.978C>T (p.Asn326=)
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NM_207346.3(TSEN54):c.97C>T (p.Leu33=)
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NM_207346.3(TSEN54):c.984_988del (p.Arg330fs)
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NM_207346.3(TSEN54):c.990G>A (p.Arg330=)
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NM_207346.3(TSEN54):c.991del (p.Glu331fs)
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rs1598477502
|
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NM_207346.3(TSEN54):c.999C>T (p.Asp333=)
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