NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00434
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00076
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00076
|
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)
|
rs77984885
|
0.00070
|
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)
|
rs141589525
|
0.00070
|
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu)
|
rs200153024
|
0.00059
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)
|
rs144900653
|
0.00048
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00038
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00038
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)
|
rs147018359
|
0.00035
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)
|
rs199921065
|
0.00034
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00029
|
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala)
|
rs369470593
|
0.00026
|
NM_015046.7(SETX):c.*2384T>A
|
rs570456500
|
0.00022
|
NM_015046.7(SETX):c.5294A>G (p.Asn1765Ser)
|
rs373085593
|
0.00022
|
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)
|
rs200614765
|
0.00020
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala)
|
rs138195434
|
0.00019
|
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)
|
rs143270460
|
0.00018
|
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)
|
rs139200312
|
0.00017
|
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)
|
rs372193033
|
0.00017
|
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)
|
rs148568105
|
0.00016
|
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
|
rs150489999
|
0.00016
|
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)
|
rs61735488
|
0.00013
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00011
|
NM_015046.7(SETX):c.7092T>C (p.Asp2364=)
|
rs144607919
|
0.00011
|
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)
|
rs551406712
|
0.00010
|
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)
|
rs376022544
|
0.00009
|
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)
|
rs369264209
|
0.00009
|
NM_015046.7(SETX):c.5852A>G (p.His1951Arg)
|
rs146593865
|
0.00009
|
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)
|
rs201441886
|
0.00008
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00008
|
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)
|
rs553413088
|
0.00008
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00007
|
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser)
|
rs372021275
|
0.00007
|
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser)
|
rs754357821
|
0.00007
|
NM_015046.7(SETX):c.5842A>G (p.Met1948Val)
|
rs762267386
|
0.00007
|
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
|
rs200778360
|
0.00007
|
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)
|
rs368269464
|
0.00007
|
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu)
|
rs147705644
|
0.00007
|
NM_015046.7(SETX):c.1690T>G (p.Leu564Val)
|
rs761877146
|
0.00006
|
NM_015046.7(SETX):c.5537G>A (p.Arg1846His)
|
rs373571937
|
0.00006
|
NM_015046.7(SETX):c.658A>C (p.Lys220Gln)
|
rs761180215
|
0.00006
|
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)
|
rs763545230
|
0.00005
|
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr)
|
rs749204574
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.4252C>G (p.Pro1418Ala)
|
rs747356601
|
0.00005
|
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)
|
rs371894414
|
0.00005
|
NM_015046.7(SETX):c.4A>G (p.Ser2Gly)
|
rs149808180
|
0.00005
|
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln)
|
rs747309962
|
0.00005
|
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)
|
rs151304085
|
0.00005
|
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val)
|
rs376524608
|
0.00005
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00005
|
NM_015046.7(SETX):c.991A>G (p.Ile331Val)
|
rs572884359
|
0.00005
|
NM_015046.7(SETX):c.*7C>T
|
rs754956426
|
0.00004
|
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)
|
rs768437607
|
0.00004
|
NM_015046.7(SETX):c.1750C>G (p.Leu584Val)
|
rs764995848
|
0.00004
|
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg)
|
rs188247474
|
0.00004
|
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg)
|
rs377734748
|
0.00004
|
NM_015046.7(SETX):c.2543T>G (p.Val848Gly)
|
rs567711722
|
0.00004
|
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
|
rs139427451
|
0.00004
|
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn)
|
rs138287942
|
0.00004
|
NM_015046.7(SETX):c.3029G>A (p.Arg1010His)
|
rs370781594
|
0.00004
|
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val)
|
rs372529790
|
0.00004
|
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)
|
rs547184795
|
0.00004
|
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)
|
rs376381668
|
0.00004
|
NM_015046.7(SETX):c.377A>G (p.His126Arg)
|
rs368932301
|
0.00004
|
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)
|
rs369542231
|
0.00004
|
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val)
|
rs761119964
|
0.00004
|
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)
|
rs749891883
|
0.00004
|
NM_015046.7(SETX):c.546C>A (p.Asp182Glu)
|
rs199748733
|
0.00004
|
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)
|
rs375747001
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr)
|
rs774458684
|
0.00004
|
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)
|
rs770469636
|
0.00004
|
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met)
|
rs773364996
|
0.00004
|
NM_015046.7(SETX):c.839-6T>C
|
rs760584527
|
0.00004
|
NM_015046.7(SETX):c.146A>G (p.Lys49Arg)
|
rs142551293
|
0.00003
|
NM_015046.7(SETX):c.1667A>G (p.Lys556Arg)
|
rs754890755
|
0.00003
|
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
|
rs998278975
|
0.00003
|
NM_015046.7(SETX):c.2045A>G (p.His682Arg)
|
rs373850132
|
0.00003
|
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)
|
rs1273786747
|
0.00003
|
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)
|
rs761725498
|
0.00003
|
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)
|
rs201096140
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp)
|
rs1230355404
|
0.00003
|
NM_015046.7(SETX):c.382C>T (p.Arg128Cys)
|
rs552476047
|
0.00003
|
NM_015046.7(SETX):c.4088G>A (p.Arg1363Gln)
|
rs748262024
|
0.00003
|
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)
|
rs371541705
|
0.00003
|
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser)
|
rs756080695
|
0.00003
|
NM_015046.7(SETX):c.4525T>C (p.Cys1509Arg)
|
rs543647990
|
0.00003
|
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp)
|
rs771969117
|
0.00003
|
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile)
|
rs756770572
|
0.00003
|
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
|
rs200228952
|
0.00003
|
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu)
|
rs746525639
|
0.00003
|
NM_015046.7(SETX):c.719-4A>G
|
rs775443601
|
0.00003
|
NM_015046.7(SETX):c.7819G>A (p.Glu2607Lys)
|
rs200969620
|
0.00003
|
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)
|
rs757988188
|
0.00003
|
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
|
rs765421589
|
0.00003
|
NM_015046.7(SETX):c.*2A>G
|
rs1227559043
|
0.00002
|
NM_015046.7(SETX):c.1462G>A (p.Ala488Thr)
|
rs374334031
|
0.00002
|
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp)
|
rs777081940
|
0.00002
|
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr)
|
rs769620847
|
0.00002
|
NM_015046.7(SETX):c.2395C>T (p.His799Tyr)
|
rs200459144
|
0.00002
|
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)
|
rs778882347
|
0.00002
|
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr)
|
rs200856903
|
0.00002
|
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)
|
rs374091487
|
0.00002
|
NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys)
|
rs267607044
|
0.00002
|
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile)
|
rs771168824
|
0.00002
|
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
|
rs780078856
|
0.00002
|
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)
|
rs747804357
|
0.00002
|
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)
|
rs376678876
|
0.00002
|
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu)
|
rs368931174
|
0.00002
|
NM_015046.7(SETX):c.5158G>T (p.Gly1720Trp)
|
rs768757368
|
0.00002
|
NM_015046.7(SETX):c.5322G>T (p.Gln1774His)
|
rs771691157
|
0.00002
|
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
|
rs762071010
|
0.00002
|
NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu)
|
rs978380834
|
0.00002
|
NM_015046.7(SETX):c.5552G>A (p.Arg1851His)
|
rs137978070
|
0.00002
|
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu)
|
rs370368422
|
0.00002
|
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)
|
rs759806045
|
0.00002
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
NM_015046.7(SETX):c.635C>G (p.Thr212Ser)
|
rs771502043
|
0.00002
|
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys)
|
rs747913385
|
0.00002
|
NM_015046.7(SETX):c.7019G>A (p.Arg2340Gln)
|
rs369919717
|
0.00002
|
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)
|
rs1346929384
|
0.00002
|
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
|
rs1240185024
|
0.00002
|
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)
|
rs745394467
|
0.00002
|
NM_015046.7(SETX):c.855T>C (p.Pro285=)
|
rs141736312
|
0.00002
|
NM_015046.7(SETX):c.100G>A (p.Asp34Asn)
|
rs555364587
|
0.00001
|
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys)
|
rs772044862
|
0.00001
|
NM_015046.7(SETX):c.1285A>G (p.Ile429Val)
|
rs747053403
|
0.00001
|
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr)
|
rs778488721
|
0.00001
|
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg)
|
rs886063559
|
0.00001
|
NM_015046.7(SETX):c.1363A>G (p.Thr455Ala)
|
rs777032247
|
0.00001
|
NM_015046.7(SETX):c.1438G>T (p.Val480Leu)
|
rs377301250
|
0.00001
|
NM_015046.7(SETX):c.1579C>G (p.Pro527Ala)
|
rs774240718
|
0.00001
|
NM_015046.7(SETX):c.1670G>A (p.Arg557Gln)
|
rs548433078
|
0.00001
|
NM_015046.7(SETX):c.172C>T (p.His58Tyr)
|
rs757760067
|
0.00001
|
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
|
rs777443178
|
0.00001
|
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)
|
rs143727702
|
0.00001
|
NM_015046.7(SETX):c.208A>G (p.Ile70Val)
|
rs747469176
|
0.00001
|
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala)
|
rs750530263
|
0.00001
|
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys)
|
rs780121182
|
0.00001
|
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn)
|
rs922821119
|
0.00001
|
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)
|
rs745938575
|
0.00001
|
NM_015046.7(SETX):c.2272G>A (p.Val758Met)
|
rs377667448
|
0.00001
|
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)
|
rs373647065
|
0.00001
|
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu)
|
rs771954896
|
0.00001
|
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
|
rs371166895
|
0.00001
|
NM_015046.7(SETX):c.245G>A (p.Gly82Glu)
|
rs201864041
|
0.00001
|
NM_015046.7(SETX):c.2607_2609del (p.Lys870del)
|
rs781159054
|
0.00001
|
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)
|
rs1320466105
|
0.00001
|
NM_015046.7(SETX):c.2699C>G (p.Thr900Arg)
|
rs1355909107
|
0.00001
|
NM_015046.7(SETX):c.2711A>G (p.Asn904Ser)
|
rs143265750
|
0.00001
|
NM_015046.7(SETX):c.272A>G (p.Asp91Gly)
|
rs1327343862
|
0.00001
|
NM_015046.7(SETX):c.2779A>G (p.Met927Val)
|
rs886063556
|
0.00001
|
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)
|
rs770694223
|
0.00001
|
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
|
rs757405541
|
0.00001
|
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)
|
rs1285317289
|
0.00001
|
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)
|
rs754285464
|
0.00001
|
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)
|
rs761243379
|
0.00001
|
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr)
|
rs545072717
|
0.00001
|
NM_015046.7(SETX):c.3428G>T (p.Arg1143Ile)
|
rs1364862426
|
0.00001
|
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly)
|
rs1554820858
|
0.00001
|
NM_015046.7(SETX):c.3567T>G (p.Asn1189Lys)
|
rs779729376
|
0.00001
|
NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr)
|
rs750443804
|
0.00001
|
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
|
rs948232391
|
0.00001
|
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
|
rs761851331
|
0.00001
|
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys)
|
rs760272692
|
0.00001
|
NM_015046.7(SETX):c.3900C>T (p.Ser1300=)
|
rs886063554
|
0.00001
|
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys)
|
rs773999398
|
0.00001
|
NM_015046.7(SETX):c.4048A>G (p.Met1350Val)
|
rs769666635
|
0.00001
|
NM_015046.7(SETX):c.4114G>C (p.Asp1372His)
|
rs1564539457
|
0.00001
|
NM_015046.7(SETX):c.4136A>G (p.His1379Arg)
|
rs181158146
|
0.00001
|
NM_015046.7(SETX):c.4202G>T (p.Gly1401Val)
|
rs185868357
|
0.00001
|
NM_015046.7(SETX):c.4270A>G (p.Ile1424Val)
|
rs757978377
|
0.00001
|
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala)
|
rs1038733632
|
0.00001
|
NM_015046.7(SETX):c.4312C>T (p.Pro1438Ser)
|
rs750178634
|
0.00001
|
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)
|
rs781185115
|
0.00001
|
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr)
|
rs759545112
|
0.00001
|
NM_015046.7(SETX):c.4507C>A (p.Pro1503Thr)
|
rs745844516
|
0.00001
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
0.00001
|
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser)
|
rs916634082
|
0.00001
|
NM_015046.7(SETX):c.4964C>T (p.Ser1655Leu)
|
rs1189378413
|
0.00001
|
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn)
|
rs770527045
|
0.00001
|
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile)
|
rs752646721
|
0.00001
|
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)
|
rs764316153
|
0.00001
|
NM_015046.7(SETX):c.5297C>A (p.Ser1766Tyr)
|
rs1434366684
|
0.00001
|
NM_015046.7(SETX):c.5342C>G (p.Pro1781Arg)
|
rs2539021792
|
0.00001
|
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
|
rs143133190
|
0.00001
|
NM_015046.7(SETX):c.569A>C (p.Gln190Pro)
|
rs1173845468
|
0.00001
|
NM_015046.7(SETX):c.571G>A (p.Glu191Lys)
|
rs929798338
|
0.00001
|
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val)
|
rs1009296937
|
0.00001
|
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)
|
rs749598296
|
0.00001
|
NM_015046.7(SETX):c.5938C>T (p.Leu1980=)
|
rs867574108
|
0.00001
|
NM_015046.7(SETX):c.5954A>G (p.Gln1985Arg)
|
rs879781944
|
0.00001
|
NM_015046.7(SETX):c.5956A>T (p.Arg1986Trp)
|
rs868436982
|
0.00001
|
NM_015046.7(SETX):c.6106+3dup
|
rs1844639633
|
0.00001
|
NM_015046.7(SETX):c.6179G>C (p.Ser2060Thr)
|
rs752731567
|
0.00001
|
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)
|
rs751252138
|
0.00001
|
NM_015046.7(SETX):c.628A>G (p.Ile210Val)
|
rs1352654083
|
0.00001
|
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)
|
rs142843968
|
0.00001
|
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn)
|
rs141657462
|
0.00001
|
NM_015046.7(SETX):c.7100+3G>A
|
rs752203746
|
0.00001
|
NM_015046.7(SETX):c.7100+7C>T
|
rs375256800
|
0.00001
|
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)
|
rs145397619
|
0.00001
|
NM_015046.7(SETX):c.7149T>A (p.Asp2383Glu)
|
rs1325142907
|
0.00001
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
0.00001
|
NM_015046.7(SETX):c.7163C>T (p.Thr2388Met)
|
rs765418950
|
0.00001
|
NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)
|
rs1456924846
|
0.00001
|
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser)
|
rs1382990384
|
0.00001
|
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)
|
rs760196991
|
0.00001
|
NM_015046.7(SETX):c.7427C>T (p.Pro2476Leu)
|
rs767515528
|
0.00001
|
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
|
rs772179602
|
0.00001
|
NM_015046.7(SETX):c.7612G>C (p.Asp2538His)
|
rs1473906430
|
0.00001
|
NM_015046.7(SETX):c.7657A>G (p.Ile2553Val)
|
rs546828646
|
0.00001
|
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys)
|
rs145345675
|
0.00001
|
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
|
rs539033545
|
0.00001
|
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly)
|
rs779793402
|
0.00001
|
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly)
|
rs567672087
|
0.00001
|
NM_015046.7(SETX):c.7995G>T (p.Glu2665Asp)
|
rs1085307585
|
0.00001
|
NM_015046.7(SETX):c.820A>G (p.Met274Val)
|
rs753713810
|
0.00001
|
NM_015046.7(SETX):c.832G>A (p.Ala278Thr)
|
rs369035418
|
0.00001
|
NM_015046.7(SETX):c.866C>T (p.Ala289Val)
|
rs1237541645
|
0.00001
|
NM_015046.7(SETX):c.967A>G (p.Ser323Gly)
|
rs758625845
|
0.00001
|
NM_015046.7(SETX):c.998A>G (p.Asn333Ser)
|
rs538829833
|
0.00001
|
NM_015046.7(SETX):c.*10G>C
|
|
|
NM_015046.7(SETX):c.*1282C>T
|
rs1842469257
|
|
NM_015046.7(SETX):c.-114-2A>G
|
|
|
NM_015046.7(SETX):c.1004C>G (p.Ser335Cys)
|
rs1475779702
|
|
NM_015046.7(SETX):c.1131T>G (p.Asp377Glu)
|
|
|
NM_015046.7(SETX):c.1273G>T (p.Gly425Cys)
|
rs1428065074
|
|
NM_015046.7(SETX):c.1274G>C (p.Gly425Ala)
|
rs1199659912
|
|
NM_015046.7(SETX):c.1343A>C (p.Asp448Ala)
|
rs370363342
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
NM_015046.7(SETX):c.1508G>A (p.Ser503Asn)
|
rs1085307770
|
|
NM_015046.7(SETX):c.152G>A (p.Arg51Lys)
|
rs777256092
|
|
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala)
|
rs2131460183
|
|
NM_015046.7(SETX):c.1612C>G (p.Leu538Val)
|
|
|
NM_015046.7(SETX):c.1644G>C (p.Gln548His)
|
|
|
NM_015046.7(SETX):c.1658C>T (p.Ser553Phe)
|
rs1589747116
|
|
NM_015046.7(SETX):c.1724dup (p.Leu576fs)
|
rs2539131062
|
|
NM_015046.7(SETX):c.1837A>C (p.Lys613Gln)
|
rs1847103646
|
|
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
|
rs758089994
|
|
NM_015046.7(SETX):c.2040G>A (p.Glu680=)
|
rs755050599
|
|
NM_015046.7(SETX):c.2180C>T (p.Thr727Ile)
|
rs1156260662
|
|
NM_015046.7(SETX):c.2267A>G (p.Glu756Gly)
|
rs202036078
|
|
NM_015046.7(SETX):c.2405G>A (p.Ser802Asn)
|
rs1847058160
|
|
NM_015046.7(SETX):c.2489_2491dup (p.Gly830dup)
|
rs2131452043
|
|
NM_015046.7(SETX):c.249TGA[4] (p.Asp85_Glu86insAsp)
|
|
|
NM_015046.7(SETX):c.2660A>G (p.Gln887Arg)
|
rs769138877
|
|
NM_015046.7(SETX):c.2669A>G (p.His890Arg)
|
rs2131450125
|
|
NM_015046.7(SETX):c.266T>C (p.Ile89Thr)
|
|
|
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
|
rs751044720
|
|
NM_015046.7(SETX):c.2911G>C (p.Ala971Pro)
|
|
|
NM_015046.7(SETX):c.2958G>C (p.Gln986His)
|
rs969060686
|
|
NM_015046.7(SETX):c.2996C>T (p.Thr999Ile)
|
|
|
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del)
|
rs765663814
|
|
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del)
|
rs572772837
|
|
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)
|
rs572772837
|
|
NM_015046.7(SETX):c.32G>A (p.Gly11Asp)
|
rs886063560
|
|
NM_015046.7(SETX):c.3307G>T (p.Val1103Phe)
|
|
|
NM_015046.7(SETX):c.3311A>C (p.Gln1104Pro)
|
rs777787438
|
|
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile)
|
rs1564541749
|
|
NM_015046.7(SETX):c.3353C>A (p.Thr1118Lys)
|
|
|
NM_015046.7(SETX):c.3398_3400del (p.Lys1133_Gly1134delinsArg)
|
|
|
NM_015046.7(SETX):c.351A>G (p.Ile117Met)
|
|
|
NM_015046.7(SETX):c.3545A>T (p.Asn1182Ile)
|
|
|
NM_015046.7(SETX):c.3564TAA[1] (p.Asn1189del)
|
rs2131441680
|
|
NM_015046.7(SETX):c.3566A>G (p.Asn1189Ser)
|
rs2539107336
|
|
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn)
|
rs149558692
|
|
NM_015046.7(SETX):c.3601A>T (p.Ile1201Phe)
|
rs1589740212
|
|
NM_015046.7(SETX):c.3626A>G (p.Asn1209Ser)
|
|
|
NM_015046.7(SETX):c.3641G>T (p.Arg1214Ile)
|
rs763375641
|
|
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del)
|
rs1238089698
|
|
NM_015046.7(SETX):c.3683C>T (p.Thr1228Ile)
|
rs921853577
|
|
NM_015046.7(SETX):c.370C>A (p.Leu124Ile)
|
rs1488062133
|
|
NM_015046.7(SETX):c.3724C>G (p.Pro1242Ala)
|
rs2539104989
|
|
NM_015046.7(SETX):c.377A>C (p.His126Pro)
|
rs368932301
|
|
NM_015046.7(SETX):c.381A>C (p.Glu127Asp)
|
rs1296707786
|
|
NM_015046.7(SETX):c.388+6T>C
|
rs2131557145
|
|
NM_015046.7(SETX):c.3881G>A (p.Arg1294His)
|
rs777857355
|
|
NM_015046.7(SETX):c.3890A>G (p.Tyr1297Cys)
|
rs753285108
|
|
NM_015046.7(SETX):c.3904C>G (p.Arg1302Gly)
|
|
|
NM_015046.7(SETX):c.3905G>T (p.Arg1302Leu)
|
rs1417093374
|
|
NM_015046.7(SETX):c.3941G>A (p.Gly1314Asp)
|
|
|
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala)
|
rs1564539968
|
|
NM_015046.7(SETX):c.3974A>G (p.Lys1325Arg)
|
rs1224791323
|
|
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
|
rs983278199
|
|
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
|
rs769558791
|
|
NM_015046.7(SETX):c.4076A>G (p.Gln1359Arg)
|
rs2539100385
|
|
NM_015046.7(SETX):c.409C>G (p.Leu137Val)
|
|
|
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)
|
rs1445388214
|
|
NM_015046.7(SETX):c.4216G>A (p.Ala1406Thr)
|
|
|
NM_015046.7(SETX):c.4222A>C (p.Ser1408Arg)
|
|
|
NM_015046.7(SETX):c.4227C>G (p.Asn1409Lys)
|
rs2539098296
|
|
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
|
rs1589737441
|
|
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu)
|
rs1477696040
|
|
NM_015046.7(SETX):c.43A>T (p.Ile15Phe)
|
rs151040199
|
|
NM_015046.7(SETX):c.4412C>T (p.Thr1471Ile)
|
rs533403902
|
|
NM_015046.7(SETX):c.4424T>C (p.Ile1475Thr)
|
rs765480069
|
|
NM_015046.7(SETX):c.4490T>A (p.Phe1497Tyr)
|
rs2539095212
|
|
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)
|
rs199974622
|
|
NM_015046.7(SETX):c.4517T>G (p.Met1506Arg)
|
rs199974622
|
|
NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn)
|
rs746807833
|
|
NM_015046.7(SETX):c.4600G>C (p.Asp1534His)
|
rs746807833
|
|
NM_015046.7(SETX):c.4626A>C (p.Glu1542Asp)
|
|
|
NM_015046.7(SETX):c.4645T>G (p.Cys1549Gly)
|
rs1846829407
|
|
NM_015046.7(SETX):c.4679A>G (p.Asn1560Ser)
|
rs2131430572
|
|
NM_015046.7(SETX):c.4698A>C (p.Pro1566=)
|
rs2131430376
|
|
NM_015046.7(SETX):c.4717G>T (p.Ala1573Ser)
|
|
|
NM_015046.7(SETX):c.4723G>C (p.Asp1575His)
|
rs781383567
|
|
NM_015046.7(SETX):c.4739G>A (p.Arg1580His)
|
rs1846818781
|
|
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
|
rs1589735789
|
|
NM_015046.7(SETX):c.4763C>G (p.Ala1588Gly)
|
|
|
NM_015046.7(SETX):c.4814C>T (p.Ser1605Leu)
|
rs2131429401
|
|
NM_015046.7(SETX):c.4870C>G (p.Leu1624Val)
|
rs1846802831
|
|
NM_015046.7(SETX):c.4897_4899del (p.Ser1633del)
|
rs2131428433
|
|
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu)
|
rs1022473091
|
|
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
|
rs2539089712
|
|
NM_015046.7(SETX):c.49T>C (p.Phe17Leu)
|
rs2539259741
|
|
NM_015046.7(SETX):c.5009A>G (p.Gln1670Arg)
|
|
|
NM_015046.7(SETX):c.5026T>C (p.Phe1676Leu)
|
rs2539088840
|
|
NM_015046.7(SETX):c.5118A>C (p.Leu1706Phe)
|
rs2539087773
|
|
NM_015046.7(SETX):c.5168C>G (p.Ala1723Gly)
|
|
|
NM_015046.7(SETX):c.5180A>T (p.Gln1727Leu)
|
|
|
NM_015046.7(SETX):c.5258T>C (p.Leu1753Ser)
|
rs2539086178
|
|
NM_015046.7(SETX):c.5274+4_5274+7del
|
rs1846750267
|
|
NM_015046.7(SETX):c.5328A>C (p.Gln1776His)
|
rs1589702061
|
|
NM_015046.7(SETX):c.5390G>A (p.Cys1797Tyr)
|
rs2538981150
|
|
NM_015046.7(SETX):c.5428T>A (p.Leu1810Met)
|
rs1182222248
|
|
NM_015046.7(SETX):c.546C>T (p.Asp182=)
|
rs199748733
|
|
NM_015046.7(SETX):c.5549-5G>A
|
rs1290116861
|
|
NM_015046.7(SETX):c.5590C>G (p.Gln1864Glu)
|
|
|
NM_015046.7(SETX):c.5645C>A (p.Ser1882Tyr)
|
rs2538970247
|
|
NM_015046.7(SETX):c.5785G>A (p.Ala1929Thr)
|
|
|
NM_015046.7(SETX):c.5833G>C (p.Ala1945Pro)
|
rs993066873
|
|
NM_015046.7(SETX):c.6083G>A (p.Cys2028Tyr)
|
rs2538960449
|
|
NM_015046.7(SETX):c.6101C>T (p.Pro2034Leu)
|
|
|
NM_015046.7(SETX):c.6107-4A>G
|
|
|
NM_015046.7(SETX):c.6107-7T>A
|
rs766634428
|
|
NM_015046.7(SETX):c.6321A>G (p.Ile2107Met)
|
|
|
NM_015046.7(SETX):c.6410C>T (p.Pro2137Leu)
|
|
|
NM_015046.7(SETX):c.6536T>C (p.Ile2179Thr)
|
rs1366270093
|
|
NM_015046.7(SETX):c.6546+5G>C
|
rs1564485095
|
|
NM_015046.7(SETX):c.6578C>T (p.Thr2193Ile)
|
rs781013515
|
|
NM_015046.7(SETX):c.662T>C (p.Leu221Pro)
|
|
|
NM_015046.7(SETX):c.6655-8C>T
|
|
|
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)
|
rs764541704
|
|
NM_015046.7(SETX):c.668T>A (p.Leu223His)
|
rs1211053963
|
|
NM_015046.7(SETX):c.6742A>G (p.Arg2248Gly)
|
|
|
NM_015046.7(SETX):c.6778A>T (p.Met2260Leu)
|
rs768334505
|
|
NM_015046.7(SETX):c.6803C>T (p.Pro2268Leu)
|
rs1415956081
|
|
NM_015046.7(SETX):c.6842+3G>A
|
rs1843268894
|
|
NM_015046.7(SETX):c.6844C>G (p.Gln2282Glu)
|
rs1372636285
|
|
NM_015046.7(SETX):c.6928G>A (p.Asp2310Asn)
|
rs2538870831
|
|
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
|
rs2538863119
|
|
NM_015046.7(SETX):c.6976A>G (p.Ile2326Val)
|
rs751216566
|
|
NM_015046.7(SETX):c.6989T>C (p.Ile2330Thr)
|
|
|
NM_015046.7(SETX):c.7055A>G (p.Lys2352Arg)
|
|
|
NM_015046.7(SETX):c.7074T>G (p.Asp2358Glu)
|
rs138508512
|
|
NM_015046.7(SETX):c.7159_7160delinsTG (p.Val2387Cys)
|
|
|
NM_015046.7(SETX):c.7163C>G (p.Thr2388Arg)
|
rs765418950
|
|
NM_015046.7(SETX):c.718+3G>C
|
rs2131504173
|
|
NM_015046.7(SETX):c.727A>G (p.Met243Val)
|
rs1847482777
|
|
NM_015046.7(SETX):c.7317G>C (p.Gln2439His)
|
rs1842567381
|
|
NM_015046.7(SETX):c.7322C>T (p.Ala2441Val)
|
|
|
NM_015046.7(SETX):c.7399C>G (p.Pro2467Ala)
|
rs2131114875
|
|
NM_015046.7(SETX):c.7439C>A (p.Ala2480Asp)
|
rs376524608
|
|
NM_015046.7(SETX):c.7448G>A (p.Gly2483Glu)
|
rs1564464281
|
|
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)
|
rs1160553456
|
|
NM_015046.7(SETX):c.7520C>G (p.Ser2507Cys)
|
rs1373360956
|
|
NM_015046.7(SETX):c.7588C>T (p.Pro2530Ser)
|
rs2538821210
|
|
NM_015046.7(SETX):c.7616C>T (p.Pro2539Leu)
|
|
|
NM_015046.7(SETX):c.7628A>T (p.Lys2543Met)
|
rs2538820857
|
|
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)
|
rs368269464
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)
|
rs144121978
|
|
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe)
|
rs144121978
|
|
NM_015046.7(SETX):c.7736T>C (p.Val2579Ala)
|
rs2131112014
|
|
NM_015046.7(SETX):c.7770_7771insCTACAGCAGCGG (p.Pro2590_Ala2591insLeuGlnGlnArg)
|
rs2538819622
|
|
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
|
rs1842534708
|
|
NM_015046.7(SETX):c.7786G>C (p.Ala2596Pro)
|
rs200287592
|
|
NM_015046.7(SETX):c.7820A>G (p.Glu2607Gly)
|
rs1554801389
|
|
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg)
|
rs1421049695
|
|
NM_015046.7(SETX):c.785A>G (p.Lys262Arg)
|
rs770255148
|
|
NM_015046.7(SETX):c.7895G>T (p.Arg2632Met)
|
rs1315385196
|
|
NM_015046.7(SETX):c.7928A>G (p.Gln2643Arg)
|
rs1842518697
|
|
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
|
rs1214545867
|
|
NM_015046.7(SETX):c.7985G>A (p.Arg2662Lys)
|
rs2131109746
|
|
NM_015046.7(SETX):c.8004C>G (p.Asp2668Glu)
|
|
|
NM_015046.7(SETX):c.838+4A>G
|
rs1847472277
|
|
NM_015046.7(SETX):c.847G>A (p.Val283Met)
|
rs1459722873
|
|
NM_015046.7(SETX):c.983T>C (p.Ile328Thr)
|
rs2131468034
|
|
NM_015046.7(SETX):c.998A>C (p.Asn333Thr)
|
rs538829833
|
|