ClinVar Miner

List of variants in gene TSEN54 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 499
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HGVS dbSNP gnomAD frequency
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)
NM_207346.3(TSEN54):c.623+11C>T
NM_207346.3(TSEN54):c.623+16C>A
NM_207346.3(TSEN54):c.623+69_886del
NM_207346.3(TSEN54):c.623+7C>T
NM_207346.3(TSEN54):c.624-11A>G
NM_207346.3(TSEN54):c.624-14C>T
NM_207346.3(TSEN54):c.624-15C>T
NM_207346.3(TSEN54):c.624-5C>T
NM_207346.3(TSEN54):c.624-7C>T
NM_207346.3(TSEN54):c.634AAG[1] (p.Lys213del) rs794727939
NM_207346.3(TSEN54):c.636G>T (p.Lys212Asn) rs2147012981
NM_207346.3(TSEN54):c.652G>A (p.Asp218Asn)
NM_207346.3(TSEN54):c.663G>A (p.Leu221=) rs886053396
NM_207346.3(TSEN54):c.669C>G (p.Pro223=)
NM_207346.3(TSEN54):c.670A>T (p.Lys224Ter)
NM_207346.3(TSEN54):c.684C>T (p.Ala228=)
NM_207346.3(TSEN54):c.688A>G (p.Ser230Gly)
NM_207346.3(TSEN54):c.690C>T (p.Ser230=)
NM_207346.3(TSEN54):c.691C>T (p.Pro231Ser) rs972897786
NM_207346.3(TSEN54):c.692del (p.Pro231fs)
NM_207346.3(TSEN54):c.693A>G (p.Pro231=)
NM_207346.3(TSEN54):c.696del (p.Cys234fs)
NM_207346.3(TSEN54):c.702C>T (p.Cys234=)
NM_207346.3(TSEN54):c.705C>T (p.Ser235=)
NM_207346.3(TSEN54):c.707A>G (p.Gln236Arg) rs200904080
NM_207346.3(TSEN54):c.708G>A (p.Gln236=)
NM_207346.3(TSEN54):c.718T>C (p.Cys240Arg)
NM_207346.3(TSEN54):c.734C>T (p.Pro245Leu) rs1276301439
NM_207346.3(TSEN54):c.735C>T (p.Pro245=)
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter) rs113994153
NM_207346.3(TSEN54):c.752T>G (p.Met251Arg)
NM_207346.3(TSEN54):c.756G>A (p.Lys252=)
NM_207346.3(TSEN54):c.767del (p.Gly256fs)
NM_207346.3(TSEN54):c.771C>A (p.Pro257=)
NM_207346.3(TSEN54):c.775C>T (p.Gln259Ter) rs2147013169
NM_207346.3(TSEN54):c.789_798del (p.Leu264fs)
NM_207346.3(TSEN54):c.793G>A (p.Gly265Ser)
NM_207346.3(TSEN54):c.802C>G (p.Pro268Ala) rs757862450
NM_207346.3(TSEN54):c.803C>G (p.Pro268Arg) rs2147013200
NM_207346.3(TSEN54):c.804T>C (p.Pro268=)
NM_207346.3(TSEN54):c.806G>C (p.Gly269Ala) rs2147013208
NM_207346.3(TSEN54):c.810G>T (p.Pro270=)
NM_207346.3(TSEN54):c.819G>A (p.Glu273=)
NM_207346.3(TSEN54):c.820G>T (p.Gly274Trp)
NM_207346.3(TSEN54):c.823G>C (p.Val275Leu) rs1040846492
NM_207346.3(TSEN54):c.825G>A (p.Val275=)
NM_207346.3(TSEN54):c.840G>A (p.Glu280=)
NM_207346.3(TSEN54):c.846_856del (p.Ala284fs)
NM_207346.3(TSEN54):c.852C>T (p.Ala284=)
NM_207346.3(TSEN54):c.858C>G (p.Asn286Lys)
NM_207346.3(TSEN54):c.858C>T (p.Asn286=)
NM_207346.3(TSEN54):c.867G>C (p.Thr289=)
NM_207346.3(TSEN54):c.867G>T (p.Thr289=)
NM_207346.3(TSEN54):c.869dup (p.Ala291fs)
NM_207346.3(TSEN54):c.873C>T (p.Ala291=)
NM_207346.3(TSEN54):c.885C>T (p.Arg295=)
NM_207346.3(TSEN54):c.887G>A (p.Trp296Ter)
NM_207346.3(TSEN54):c.888G>C (p.Trp296Cys)
NM_207346.3(TSEN54):c.901A>G (p.Ile301Val)
NM_207346.3(TSEN54):c.909C>T (p.Phe303=)
NM_207346.3(TSEN54):c.923C>A (p.Ser308Ter)
NM_207346.3(TSEN54):c.933C>T (p.Arg311=)
NM_207346.3(TSEN54):c.937A>T (p.Thr313Ser)
NM_207346.3(TSEN54):c.939C>T (p.Thr313=)
NM_207346.3(TSEN54):c.93G>A (p.Gln31=)
NM_207346.3(TSEN54):c.940del (p.Leu314fs) rs1012275384
NM_207346.3(TSEN54):c.946C>G (p.Arg316Gly)
NM_207346.3(TSEN54):c.948C>G (p.Arg316=)
NM_207346.3(TSEN54):c.948C>T (p.Arg316=)
NM_207346.3(TSEN54):c.949G>T (p.Ala317Ser) rs201125812
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
NM_207346.3(TSEN54):c.959C>G (p.Pro320Arg) rs189860274
NM_207346.3(TSEN54):c.963G>A (p.Glu321=)
NM_207346.3(TSEN54):c.971C>T (p.Pro324Leu)
NM_207346.3(TSEN54):c.972G>A (p.Pro324=)
NM_207346.3(TSEN54):c.977A>C (p.Asn326Thr)
NM_207346.3(TSEN54):c.978C>T (p.Asn326=)
NM_207346.3(TSEN54):c.97C>T (p.Leu33=)
NM_207346.3(TSEN54):c.984_988del (p.Arg330fs)
NM_207346.3(TSEN54):c.990G>A (p.Arg330=)
NM_207346.3(TSEN54):c.991del (p.Glu331fs) rs1598477502
NM_207346.3(TSEN54):c.999C>T (p.Asp333=)

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