NM_001032221.6(STXBP1):c.578+145C>T
|
rs7036307
|
0.98864
|
NM_001032221.6(STXBP1):c.795-243A>G
|
rs2241167
|
0.43293
|
NM_001032221.6(STXBP1):c.246+83G>T
|
rs2287116
|
0.21159
|
NM_001032221.6(STXBP1):c.1702+303A>G
|
rs3780659
|
0.14307
|
NM_001032221.6(STXBP1):c.663+207T>A
|
rs13297270
|
0.14307
|
NM_001032221.6(STXBP1):c.326-305A>G
|
rs4836573
|
0.12932
|
NM_001032221.6(STXBP1):c.1359+320T>C
|
rs57559410
|
0.06826
|
NM_001032221.6(STXBP1):c.247-181G>A
|
rs17849177
|
0.06079
|
NM_001032221.6(STXBP1):c.579-112A>G
|
rs17849179
|
0.06013
|
NM_001032221.6(STXBP1):c.846C>T (p.Asp282=)
|
rs58889246
|
0.05156
|
NM_001032221.6(STXBP1):c.88-53C>T
|
rs57153442
|
0.05151
|
NM_001032221.6(STXBP1):c.1249+222G>A
|
rs12115218
|
0.04832
|
NM_001032221.6(STXBP1):c.902+138C>T
|
rs7862127
|
0.03625
|
NM_001032221.6(STXBP1):c.1547+169C>G
|
rs116319255
|
0.02993
|
NM_001032221.6(STXBP1):c.1703-262G>A
|
rs72752811
|
0.02979
|
NM_001032221.6(STXBP1):c.1702+1997G>A
|
rs117911387
|
0.02415
|
NM_001032221.6(STXBP1):c.664-200C>T
|
rs111741154
|
0.01951
|
NM_001032221.6(STXBP1):c.579-37C>G
|
rs113138293
|
0.01843
|
NM_001032221.6(STXBP1):c.1461+80C>A
|
rs73601663
|
0.01551
|
NM_001032221.6(STXBP1):c.1702+202G>T
|
rs114487291
|
0.01528
|
NM_001032221.6(STXBP1):c.170-202T>A
|
rs7857988
|
0.01522
|
NM_001032221.6(STXBP1):c.1029+147G>C
|
rs115175804
|
0.01521
|
NM_001032221.6(STXBP1):c.1702+1587A>G
|
rs116233183
|
0.01521
|
NM_001032221.6(STXBP1):c.1030-65C>G
|
rs58905669
|
0.01517
|
NM_001032221.6(STXBP1):c.1360-291C>T
|
rs58261423
|
0.01517
|
NM_001032221.6(STXBP1):c.87+159T>C
|
rs72769835
|
0.01399
|
NM_001032221.6(STXBP1):c.903-177T>A
|
rs144767053
|
0.01391
|
NM_001032221.6(STXBP1):c.38-3T>C
|
rs138763389
|
0.01315
|
NM_001032221.6(STXBP1):c.1461+151C>T
|
rs79786672
|
0.01313
|
NM_001032221.6(STXBP1):c.1703-163C>T
|
rs116088144
|
0.01263
|
NM_001032221.6(STXBP1):c.430-138G>A
|
rs145639237
|
0.00951
|
NM_001032221.6(STXBP1):c.430-139T>A
|
rs139895327
|
0.00946
|
NM_001032221.6(STXBP1):c.1029+296T>C
|
rs76431389
|
0.00914
|
NM_001032221.6(STXBP1):c.88-169T>C
|
rs114295222
|
0.00805
|
NM_001032221.6(STXBP1):c.903-299G>T
|
rs186586991
|
0.00777
|
NM_001032221.6(STXBP1):c.903-301C>T
|
rs182318098
|
0.00776
|
NM_001032221.6(STXBP1):c.1702+39C>T
|
rs17849185
|
0.00536
|
NM_001032221.6(STXBP1):c.902+303A>G
|
rs143876177
|
0.00348
|
NM_001032221.6(STXBP1):c.38-250C>T
|
rs141778553
|
0.00345
|
NM_001032221.6(STXBP1):c.795-38A>G
|
rs147069788
|
0.00329
|
NM_001032221.6(STXBP1):c.795-41T>C
|
rs186338327
|
0.00326
|
NM_001032221.6(STXBP1):c.247-8A>G
|
rs199827018
|
0.00325
|
NM_001032221.6(STXBP1):c.325+8C>T
|
rs117372398
|
0.00310
|
NM_001032221.6(STXBP1):c.794+42C>T
|
rs17849182
|
0.00201
|
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=)
|
rs145304925
|
0.00152
|
NM_001032221.6(STXBP1):c.170-48G>A
|
rs182862523
|
0.00152
|
NM_001032221.6(STXBP1):c.1702+1401C>T
|
rs143950200
|
0.00129
|
NM_001032221.6(STXBP1):c.1702+10C>T
|
rs147607230
|
0.00081
|
NM_001032221.6(STXBP1):c.1662C>T (p.Tyr554=)
|
rs142595450
|
0.00059
|
NM_001032221.6(STXBP1):c.169+35G>C
|
rs182062372
|
0.00058
|
NM_001032221.6(STXBP1):c.326-8A>G
|
rs180716154
|
0.00053
|
NM_001032221.6(STXBP1):c.794+21C>T
|
rs184810503
|
0.00052
|
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val)
|
rs141208884
|
0.00044
|
NM_001032221.6(STXBP1):c.663+42C>T
|
rs375814365
|
0.00039
|
NM_001032221.6(STXBP1):c.964-23A>G
|
rs114421260
|
0.00039
|
NM_001032221.6(STXBP1):c.1359+52T>C
|
rs375328683
|
0.00038
|
NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile)
|
rs34830702
|
0.00033
|
NM_001032221.6(STXBP1):c.1703-102T>C
|
rs750631170
|
0.00024
|
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile)
|
rs150259704
|
0.00021
|
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=)
|
rs567071026
|
0.00021
|
NM_001032221.6(STXBP1):c.1462-12T>C
|
rs370261480
|
0.00015
|
NM_001032221.6(STXBP1):c.902+34G>A
|
rs191638129
|
0.00014
|
NM_001032221.6(STXBP1):c.1702+1765G>A
|
rs753613114
|
0.00013
|
NM_001032221.6(STXBP1):c.282G>T (p.Pro94=)
|
rs140873342
|
0.00013
|
NM_001032221.6(STXBP1):c.247-23C>T
|
rs762436097
|
0.00012
|
NM_001032221.6(STXBP1):c.561G>A (p.Pro187=)
|
rs972703931
|
0.00011
|
NM_001032221.6(STXBP1):c.1257G>A (p.Thr419=)
|
rs377751165
|
0.00007
|
NM_001032221.6(STXBP1):c.1385C>T (p.Pro462Leu)
|
rs752394761
|
0.00007
|
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=)
|
rs777499631
|
0.00007
|
NM_001032221.6(STXBP1):c.663+20C>T
|
rs373714441
|
0.00007
|
NM_001032221.6(STXBP1):c.1302G>A (p.Pro434=)
|
rs142021261
|
0.00006
|
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)
|
rs370249358
|
0.00006
|
NM_001032221.6(STXBP1):c.1335C>T (p.His445=)
|
rs372348815
|
0.00006
|
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=)
|
rs201302013
|
0.00006
|
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu)
|
rs200802985
|
0.00005
|
NM_001032221.6(STXBP1):c.1542C>T (p.Ala514=)
|
rs146226703
|
0.00004
|
NM_001032221.6(STXBP1):c.156C>T (p.Thr52=)
|
rs767019310
|
0.00004
|
NM_001032221.6(STXBP1):c.619G>A (p.Asp207Asn)
|
rs770664446
|
0.00004
|
NM_001032221.6(STXBP1):c.1287C>T (p.His429=)
|
rs200002286
|
0.00003
|
NM_001032221.6(STXBP1):c.222G>A (p.Val74=)
|
rs778677057
|
0.00003
|
NM_001032221.6(STXBP1):c.326-12T>C
|
rs372027286
|
0.00003
|
NM_001032221.6(STXBP1):c.552G>A (p.Lys184=)
|
rs759620661
|
0.00003
|
NM_001032221.6(STXBP1):c.660G>A (p.Gly220=)
|
rs536049754
|
0.00003
|
NM_001032221.6(STXBP1):c.1341C>T (p.Gly447=)
|
rs367980635
|
0.00002
|
NM_001032221.6(STXBP1):c.1462-13C>G
|
rs199700009
|
0.00002
|
NM_001032221.6(STXBP1):c.429+3G>A
|
rs368213197
|
0.00002
|
NM_001032221.6(STXBP1):c.1083C>T (p.Thr361=)
|
rs866871870
|
0.00001
|
NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile)
|
rs1046891783
|
0.00001
|
NM_001032221.6(STXBP1):c.1250-7C>T
|
rs1323549123
|
0.00001
|
NM_001032221.6(STXBP1):c.1256C>T (p.Thr419Met)
|
rs748965227
|
0.00001
|
NM_001032221.6(STXBP1):c.1288G>A (p.Ala430Thr)
|
rs148131665
|
0.00001
|
NM_001032221.6(STXBP1):c.1301C>T (p.Pro434Leu)
|
rs773261815
|
0.00001
|
NM_001032221.6(STXBP1):c.1365G>A (p.Thr455=)
|
rs767843953
|
0.00001
|
NM_001032221.6(STXBP1):c.1514G>A (p.Arg505His)
|
rs796053372
|
0.00001
|
NM_001032221.6(STXBP1):c.1548-7T>C
|
rs534556046
|
0.00001
|
NM_001032221.6(STXBP1):c.1599T>C (p.Ser533=)
|
rs755906740
|
0.00001
|
NM_001032221.6(STXBP1):c.1635G>A (p.Val545=)
|
rs1232546164
|
0.00001
|
NM_001032221.6(STXBP1):c.1656C>T (p.Cys552=)
|
rs942940725
|
0.00001
|
NM_001032221.6(STXBP1):c.1702+1799C>T
|
rs1057523938
|
0.00001
|
NM_001032221.6(STXBP1):c.285G>A (p.Pro95=)
|
rs773724420
|
0.00001
|
NM_001032221.6(STXBP1):c.531G>A (p.Ala177=)
|
rs1057520999
|
0.00001
|
NM_001032221.6(STXBP1):c.807C>T (p.Ser269=)
|
rs561329680
|
0.00001
|
NM_001032221.6(STXBP1):c.852C>T (p.Asp284=)
|
rs141782684
|
0.00001
|
NM_001032221.6(STXBP1):c.902+10C>T
|
rs760108945
|
0.00001
|
NM_001032221.6(STXBP1):c.903G>A (p.Gln301=)
|
rs1364462270
|
0.00001
|
NM_001032221.6(STXBP1):c.914G>A (p.Arg305Gln)
|
rs763559860
|
0.00001
|
NM_003165.6(STXBP1):c.1722T>A (p.Thr574=)
|
rs377721017
|
0.00001
|
NM_003165.6(STXBP1):c.1749A>C (p.Arg583Ser)
|
rs757607352
|
0.00001
|
GRCh37/hg19 9q34.11(chr9:130363849-130455691)x1
|
|
|
GRCh37/hg19 9q34.11(chr9:130438083-130446756)x1
|
|
|
NM_001032221.6(STXBP1):c.*5del (p.Ter595=)
|
rs752807764
|
|
NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser)
|
rs1085307916
|
|
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)
|
rs398123695
|
|
NM_001032221.6(STXBP1):c.1012C>T (p.Gln338Ter)
|
rs1057517856
|
|
NM_001032221.6(STXBP1):c.1017del (p.Glu340fs)
|
rs1841566082
|
|
NM_001032221.6(STXBP1):c.1029+1G>A
|
rs727504173
|
|
NM_001032221.6(STXBP1):c.1029+1G>T
|
rs727504173
|
|
NM_001032221.6(STXBP1):c.1029+300del
|
rs370276178
|
|
NM_001032221.6(STXBP1):c.1030-1G>T
|
rs796053364
|
|
NM_001032221.6(STXBP1):c.1051G>A (p.Ala351Thr)
|
|
|
NM_001032221.6(STXBP1):c.1060T>C (p.Cys354Arg)
|
rs886041337
|
|
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr)
|
rs796053365
|
|
NM_001032221.6(STXBP1):c.1074C>A (p.Tyr358Ter)
|
rs1841613716
|
|
NM_001032221.6(STXBP1):c.1075C>T (p.Gln359Ter)
|
rs1554778215
|
|
NM_001032221.6(STXBP1):c.1079del (p.Gly360fs)
|
rs1841614275
|
|
NM_001032221.6(STXBP1):c.107T>G (p.Leu36Ter)
|
rs1085307900
|
|
NM_001032221.6(STXBP1):c.1092del (p.Lys364fs)
|
rs1841615616
|
|
NM_001032221.6(STXBP1):c.1093C>T (p.Leu365Phe)
|
rs796053358
|
|
NM_001032221.6(STXBP1):c.1095_1096del (p.Cys366fs)
|
rs1057518154
|
|
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)
|
rs796053366
|
|
NM_001032221.6(STXBP1):c.1105G>A (p.Glu369Lys)
|
rs1841616772
|
|
NM_001032221.6(STXBP1):c.1110+5G>C
|
|
|
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)
|
rs121918321
|
|
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val)
|
rs1554778420
|
|
NM_001032221.6(STXBP1):c.1169_1175dup (p.Ile393fs)
|
rs796053384
|
|
NM_001032221.6(STXBP1):c.1176del (p.Ile393fs)
|
rs1841724942
|
|
NM_001032221.6(STXBP1):c.1193A>G (p.Asn398Ser)
|
rs750585484
|
|
NM_001032221.6(STXBP1):c.1204del (p.Tyr402fs)
|
rs1064793414
|
|
NM_001032221.6(STXBP1):c.1213A>G (p.Ile405Val)
|
rs1554778428
|
|
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)
|
rs796053367
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.123G>A (p.Leu41=)
|
rs766840783
|
|
NM_001032221.6(STXBP1):c.123G>C (p.Leu41=)
|
|
|
NM_001032221.6(STXBP1):c.1249+1G>C
|
rs1057519189
|
|
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro)
|
rs886041668
|
|
NM_001032221.6(STXBP1):c.124del (p.Ser42fs)
|
rs796053380
|
|
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)
|
rs886039435
|
|
NM_001032221.6(STXBP1):c.1296dup (p.Pro433fs)
|
rs796053385
|
|
NM_001032221.6(STXBP1):c.1315A>T (p.Ile439Phe)
|
|
|
NM_001032221.6(STXBP1):c.1359+1G>A
|
rs796053370
|
|
NM_001032221.6(STXBP1):c.1359+7G>T
|
rs1841774104
|
|
NM_001032221.6(STXBP1):c.1360-2A>G
|
rs1057522982
|
|
NM_001032221.6(STXBP1):c.1360-3C>T
|
|
|
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs)
|
rs1554778657
|
|
NM_001032221.6(STXBP1):c.1383_1388delinsC (p.Lys461fs)
|
rs1588346359
|
|
NM_001032221.6(STXBP1):c.1399C>T (p.Arg467Cys)
|
|
|
NM_001032221.6(STXBP1):c.1427C>G (p.Ser476Ter)
|
rs1564355614
|
|
NM_001032221.6(STXBP1):c.1434G>C (p.Trp478Cys)
|
rs1060501722
|
|
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)
|
rs796053368
|
|
NM_001032221.6(STXBP1):c.1448A>G (p.Lys483Arg)
|
|
|
NM_001032221.6(STXBP1):c.1454T>A (p.Ile485Asn)
|
rs1564355642
|
|
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs)
|
rs2132444703
|
|
NM_001032221.6(STXBP1):c.1461+1G>T
|
|
|
NM_001032221.6(STXBP1):c.1461+5G>A
|
rs1841870815
|
|
NM_001032221.6(STXBP1):c.1461G>C (p.Glu487Asp)
|
rs1554778676
|
|
NM_001032221.6(STXBP1):c.1462-2A>G
|
rs2131528253
|
|
NM_001032221.6(STXBP1):c.1470del (p.Ile490fs)
|
rs796053391
|
|
NM_001032221.6(STXBP1):c.1478A>C (p.Lys493Thr)
|
rs2131528321
|
|
NM_001032221.6(STXBP1):c.148dup (p.Ile50fs)
|
rs1057518167
|
|
NM_001032221.6(STXBP1):c.1510del (p.Thr504fs)
|
rs796053392
|
|
NM_001032221.6(STXBP1):c.1532_1534del (p.Ser511del)
|
rs2131528620
|
|
NM_001032221.6(STXBP1):c.1547+272_1547+277del
|
rs369318816
|
|
NM_001032221.6(STXBP1):c.1548-18TC[2]
|
rs148316151
|
|
NM_001032221.6(STXBP1):c.1548-21_1548-20del
|
rs145978705
|
|
NM_001032221.6(STXBP1):c.1548-7_1548-4del
|
rs796053349
|
|
NM_001032221.6(STXBP1):c.1549G>T (p.Ala517Ser)
|
rs1057518123
|
|
NM_001032221.6(STXBP1):c.1569_1570del (p.His523fs)
|
rs1554778928
|
|
NM_001032221.6(STXBP1):c.1597del (p.Ser533fs)
|
rs1554778930
|
|
NM_001032221.6(STXBP1):c.1606C>A (p.Arg536Ser)
|
rs1241329041
|
|
NM_001032221.6(STXBP1):c.1606del (p.Arg536fs)
|
rs1842042825
|
|
NM_001032221.6(STXBP1):c.1607_1608del (p.Arg536fs)
|
rs1588354779
|
|
NM_001032221.6(STXBP1):c.1611CAT[1] (p.Ile539del)
|
rs796053386
|
|
NM_001032221.6(STXBP1):c.1628G>A (p.Gly543Glu)
|
rs1842044352
|
|
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys)
|
rs1842044505
|
|
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val)
|
rs121918317
|
|
NM_001032221.6(STXBP1):c.1642A>G (p.Asn548Asp)
|
rs1057523381
|
|
NM_001032221.6(STXBP1):c.1644del (p.Asn548fs)
|
rs1842045865
|
|
NM_001032221.6(STXBP1):c.164T>C (p.Ile55Thr)
|
rs2132444862
|
|
NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser)
|
rs796053373
|
|
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)
|
rs796053373
|
|
NM_001032221.6(STXBP1):c.1652G>C (p.Arg551Pro)
|
rs796053374
|
|
NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu)
|
rs796053374
|
|
NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr)
|
rs2131536069
|
|
NM_001032221.6(STXBP1):c.1662delinsAA (p.Tyr554Ter)
|
rs1588355023
|
|
NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter)
|
rs796053376
|
|
NM_001032221.6(STXBP1):c.1681G>A (p.Gly561Arg)
|
rs369960553
|
|
NM_001032221.6(STXBP1):c.1689G>A (p.Trp563Ter)
|
rs1057520544
|
|
NM_001032221.6(STXBP1):c.169+141G>A
|
|
|
NM_001032221.6(STXBP1):c.169+141G>C
|
rs17849175
|
|
NM_001032221.6(STXBP1):c.1696C>A (p.Leu566Met)
|
rs2131536412
|
|
NM_001032221.6(STXBP1):c.170-1G>C
|
rs112002192
|
|
NM_001032221.6(STXBP1):c.170-2A>G
|
rs1554776674
|
|
NM_001032221.6(STXBP1):c.1702+1555del
|
rs138485176
|
|
NM_001032221.6(STXBP1):c.1702+1654A>C
|
rs4836575
|
|
NM_001032221.6(STXBP1):c.1702+1654A>G
|
rs4836575
|
|
NM_001032221.6(STXBP1):c.1702+1G>A
|
rs796053377
|
|
NM_001032221.6(STXBP1):c.1702+31C>T
|
rs200592361
|
|
NM_001032221.6(STXBP1):c.171T>C (p.Ile57=)
|
rs1554776675
|
|
NM_001032221.6(STXBP1):c.1726C>T (p.Gln576Ter)
|
rs2131561363
|
|
NM_001032221.6(STXBP1):c.1726del (p.Gln576fs)
|
rs796053393
|
|
NM_001032221.6(STXBP1):c.1732C>G (p.Leu578Val)
|
|
|
NM_001032221.6(STXBP1):c.174G>T (p.Val58=)
|
rs1057524034
|
|
NM_001032221.6(STXBP1):c.175G>A (p.Glu59Lys)
|
rs2132460743
|
|
NM_001032221.6(STXBP1):c.1767T>A (p.Asp589Glu)
|
rs974441233
|
|
NM_001032221.6(STXBP1):c.1777A>C (p.Ser593Arg)
|
rs2131561521
|
|
NM_001032221.6(STXBP1):c.193A>G (p.Arg65Gly)
|
rs1564348737
|
|
NM_001032221.6(STXBP1):c.214G>A (p.Glu72Lys)
|
rs754668616
|
|
NM_001032221.6(STXBP1):c.218C>A (p.Ala73Asp)
|
rs1554776686
|
|
NM_001032221.6(STXBP1):c.241G>C (p.Glu81Gln)
|
rs1461664423
|
|
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)
|
|
|
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
|
|
|
NM_001032221.6(STXBP1):c.294del (p.Lys98fs)
|
rs1588306826
|
|
NM_001032221.6(STXBP1):c.313T>C (p.Phe105Leu)
|
rs1554776849
|
|
NM_001032221.6(STXBP1):c.325+226G>A
|
rs112955814
|
|
NM_001032221.6(STXBP1):c.325+2_325+3del
|
rs1554776853
|
|
NM_001032221.6(STXBP1):c.325+4A>C
|
rs2131451091
|
|
NM_001032221.6(STXBP1):c.326-95del
|
rs372510099
|
|
NM_001032221.6(STXBP1):c.326-95dup
|
rs372510099
|
|
NM_001032221.6(STXBP1):c.361T>C (p.Ser121Pro)
|
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
NM_001032221.6(STXBP1):c.38-14_38-13del
|
rs768774516
|
|
NM_001032221.6(STXBP1):c.388_389del (p.Leu130fs)
|
rs796053390
|
|
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met)
|
rs2131455010
|
|
NM_001032221.6(STXBP1):c.395_406del (p.Glu132_Ile135del)
|
rs2131455052
|
|
NM_001032221.6(STXBP1):c.400_401del (p.Asn134fs)
|
rs886044141
|
|
NM_001032221.6(STXBP1):c.405T>C (p.Ile135=)
|
|
|
NM_001032221.6(STXBP1):c.408A>G (p.Ala136=)
|
rs2131455159
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001032221.6(STXBP1):c.420T>A (p.Tyr140Ter)
|
rs1064796989
|
|
NM_001032221.6(STXBP1):c.429+5G>A
|
rs1841031173
|
|
NM_001032221.6(STXBP1):c.430-1G>T
|
rs796053354
|
|
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe)
|
rs1211863124
|
|
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys)
|
rs2131462357
|
|
NM_001032221.6(STXBP1):c.451G>A (p.Asp151Asn)
|
rs2131462425
|
|
NM_001032221.6(STXBP1):c.512_513del (p.Arg171fs)
|
rs1841137524
|
|
NM_001032221.6(STXBP1):c.536T>A (p.Leu179His)
|
rs2131462929
|
|
NM_001032221.6(STXBP1):c.548T>C (p.Leu183Pro)
|
rs794727859
|
|
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
|
rs1841141204
|
|
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
|
|
|
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)
|
rs796053356
|
|
NM_001032221.6(STXBP1):c.578+1G>T
|
rs796053357
|
|
NM_001032221.6(STXBP1):c.578+1dup
|
rs796053382
|
|
NM_001032221.6(STXBP1):c.579-2A>G
|
rs112111568
|
|
NM_001032221.6(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet)
|
rs1057519538
|
|
NM_001032221.6(STXBP1):c.586A>T (p.Lys196Ter)
|
rs1564351084
|
|
NM_001032221.6(STXBP1):c.616C>T (p.Gln206Ter)
|
rs2131469253
|
|
NM_001032221.6(STXBP1):c.627C>G (p.Leu209=)
|
rs567071026
|
|
NM_001032221.6(STXBP1):c.628G>A (p.Asp210Asn)
|
rs1348662627
|
|
NM_001032221.6(STXBP1):c.634delinsCAACAATGATG (p.Tyr212delinsGlnGlnTer)
|
rs886042031
|
|
NM_001032221.6(STXBP1):c.662dup (p.Asp224fs)
|
rs886041917
|
|
NM_001032221.6(STXBP1):c.664-1G>A
|
rs1554777464
|
|
NM_001032221.6(STXBP1):c.664-326C>T
|
rs73599683
|
|
NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter)
|
rs1554777470
|
|
NM_001032221.6(STXBP1):c.695T>A (p.Ile232Asn)
|
rs1085308022
|
|
NM_001032221.6(STXBP1):c.698T>C (p.Leu233Pro)
|
rs1588319482
|
|
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)
|
rs796053359
|
|
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
|
rs794727970
|
|
NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs)
|
rs1841286087
|
|
NM_001032221.6(STXBP1):c.707G>A (p.Gly236Asp)
|
rs1554777474
|
|
NM_001032221.6(STXBP1):c.709_715del (p.Phe237fs)
|
rs1064795999
|
|
NM_001032221.6(STXBP1):c.70A>G (p.Lys24Glu)
|
rs2132436701
|
|
NM_001032221.6(STXBP1):c.721T>A (p.Ser241Thr)
|
rs2131472700
|
|
NM_001032221.6(STXBP1):c.722C>A (p.Ser241Tyr)
|
rs2131472708
|
|
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile)
|
rs1057524795
|
|
NM_001032221.6(STXBP1):c.748C>T (p.Gln250Ter)
|
rs1064796720
|
|
NM_001032221.6(STXBP1):c.767T>C (p.Leu256Pro)
|
rs1057524834
|
|
NM_001032221.6(STXBP1):c.767TGC[3] (p.Leu257dup)
|
rs1554777488
|
|
NM_001032221.6(STXBP1):c.785del (p.Asp262fs)
|
rs1841291126
|
|
NM_001032221.6(STXBP1):c.78_79del (p.Glu27fs)
|
rs1554775956
|
|
NM_001032221.6(STXBP1):c.794+1G>A
|
rs1554777496
|
|
NM_001032221.6(STXBP1):c.794+5G>A
|
rs1057520631
|
|
NM_001032221.6(STXBP1):c.82T>G (p.Trp28Gly)
|
|
|
NM_001032221.6(STXBP1):c.830A>G (p.Lys277Arg)
|
|
|
NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro)
|
rs2131481488
|
|
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)
|
rs587777310
|
|
NM_001032221.6(STXBP1):c.84G>A (p.Trp28Ter)
|
rs1064793984
|
|
NM_001032221.6(STXBP1):c.87+1G>A
|
rs796053350
|
|
NM_001032221.6(STXBP1):c.872T>C (p.Leu291Pro)
|
rs1131691928
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)
|
rs796053361
|
|
NM_001032221.6(STXBP1):c.876C>A (p.Arg292=)
|
rs778838622
|
|
NM_001032221.6(STXBP1):c.877C>T (p.His293Tyr)
|
rs1057517880
|
|
NM_001032221.6(STXBP1):c.88-2A>C
|
rs796053351
|
|
NM_001032221.6(STXBP1):c.88-2A>G
|
rs796053351
|
|
NM_001032221.6(STXBP1):c.889G>A (p.Ala297Thr)
|
rs1064794322
|
|
NM_001032221.6(STXBP1):c.889G>T (p.Ala297Ser)
|
|
|
NM_001032221.6(STXBP1):c.897_898del (p.Ser300fs)
|
rs796053383
|
|
NM_001032221.6(STXBP1):c.902+10C>A
|
rs760108945
|
|
NM_001032221.6(STXBP1):c.902+1G>C
|
rs886041978
|
|
NM_001032221.6(STXBP1):c.902+4A>G
|
rs1554777733
|
|
NM_001032221.6(STXBP1):c.902+7G>C
|
rs761007581
|
|
NM_001032221.6(STXBP1):c.904G>T (p.Glu302Ter)
|
rs796053362
|
|
NM_001032221.6(STXBP1):c.906_912del (p.Glu302fs)
|
rs1841465369
|
|
NM_001032221.6(STXBP1):c.915del (p.Ser306fs)
|
rs2131488897
|
|
NM_001032221.6(STXBP1):c.960G>C (p.Glu320Asp)
|
rs1588328490
|
|
NM_001032221.6(STXBP1):c.963+1G>T
|
rs1085307465
|
|
NM_001032221.6(STXBP1):c.963+3A>C
|
rs2131489143
|
|
NM_001032221.6(STXBP1):c.980T>C (p.Leu327Pro)
|
|
|
NM_001032221.6(STXBP1):c.981_987delinsTCAGCACC (p.Ser328fs)
|
rs1588332693
|
|
NM_001032221.6(STXBP1):c.997A>G (p.Lys333Glu)
|
rs796053363
|
|
NM_003165.6(STXBP1):c.*16+2T>C
|
rs776179939
|
|
NM_003165.6(STXBP1):c.1708A>G (p.Thr570Ala)
|
rs1131691742
|
|
NM_003165.6(STXBP1):c.1754C>A (p.Pro585His)
|
rs1554779134
|
|
NM_003165.6(STXBP1):c.1789G>A (p.Asp597Asn)
|
rs749807465
|
|
NM_003165.6(STXBP1):c.1794G>A (p.Gln598=)
|
rs1842137854
|
|
NM_003165.6(STXBP1):c.1807G>T (p.Glu603Ter)
|
rs1554779142
|
|