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.1548C>T (p.Ser516=)
|
rs145304925
|
0.00152
|
NM_001032221.6(STXBP1):c.1702+10C>T
|
rs147607230
|
0.00081
|
NM_001032221.6(STXBP1):c.326-8A>G
|
rs180716154
|
0.00053
|
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val)
|
rs141208884
|
0.00044
|
NM_001032221.6(STXBP1):c.903-4C>G
|
rs369625158
|
0.00016
|
NM_001032221.6(STXBP1):c.1462-12T>C
|
rs370261480
|
0.00015
|
NM_001032221.6(STXBP1):c.282G>T (p.Pro94=)
|
rs140873342
|
0.00013
|
NM_001032221.6(STXBP1):c.170-9G>T
|
rs769006053
|
0.00012
|
NM_001032221.6(STXBP1):c.1350C>T (p.Ile450=)
|
rs371948798
|
0.00011
|
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.1548-15C>A
|
rs772320382
|
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.201G>A (p.Pro67=)
|
rs377398330
|
0.00006
|
NM_001032221.6(STXBP1):c.1386G>A (p.Pro462=)
|
rs201146381
|
0.00005
|
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)
|
rs201809337
|
0.00005
|
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu)
|
rs200802985
|
0.00005
|
NM_001032221.6(STXBP1):c.1250-19G>A
|
rs370856785
|
0.00004
|
NM_001032221.6(STXBP1):c.132C>T (p.Cys44=)
|
rs373660650
|
0.00004
|
NM_001032221.6(STXBP1):c.1359+16A>C
|
rs778666479
|
0.00004
|
NM_001032221.6(STXBP1):c.1455C>T (p.Ile485=)
|
rs780944199
|
0.00004
|
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.1683A>G (p.Gly561=)
|
rs200525496
|
0.00004
|
NM_001032221.6(STXBP1):c.1702+7G>C
|
rs763504927
|
0.00004
|
NM_001032221.6(STXBP1):c.297C>T (p.Tyr99=)
|
rs149736085
|
0.00004
|
NM_001032221.6(STXBP1):c.299G>A (p.Arg100Gln)
|
rs374269726
|
0.00004
|
NM_001032221.6(STXBP1):c.430-9C>T
|
rs748770943
|
0.00004
|
NM_001032221.6(STXBP1):c.783T>C (p.Asn261=)
|
rs955182405
|
0.00004
|
NM_001032221.6(STXBP1):c.885C>T (p.His295=)
|
rs550123888
|
0.00004
|
NM_001032221.6(STXBP1):c.902+18C>G
|
rs374633678
|
0.00004
|
NM_001032221.6(STXBP1):c.1182G>A (p.Leu394=)
|
rs767697287
|
0.00003
|
NM_001032221.6(STXBP1):c.1287C>T (p.His429=)
|
rs200002286
|
0.00003
|
NM_001032221.6(STXBP1):c.1539C>T (p.Thr513=)
|
rs751251068
|
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.417G>T (p.Pro139=)
|
rs931563377
|
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.1030-16T>C
|
rs764937444
|
0.00002
|
NM_001032221.6(STXBP1):c.1462-13C>G
|
rs199700009
|
0.00002
|
NM_001032221.6(STXBP1):c.1632T>C (p.Gly544=)
|
rs748307696
|
0.00002
|
NM_001032221.6(STXBP1):c.255C>T (p.His85=)
|
rs768884290
|
0.00002
|
NM_001032221.6(STXBP1):c.365G>A (p.Arg122Gln)
|
rs773885228
|
0.00002
|
NM_001032221.6(STXBP1):c.1083C>T (p.Thr361=)
|
rs866871870
|
0.00001
|
NM_001032221.6(STXBP1):c.1107G>A (p.Glu369=)
|
rs376244106
|
0.00001
|
NM_001032221.6(STXBP1):c.1111-8T>C
|
rs1207244961
|
0.00001
|
NM_001032221.6(STXBP1):c.1141G>C (p.Glu381Gln)
|
rs762767233
|
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.1301C>T (p.Pro434Leu)
|
rs773261815
|
0.00001
|
NM_001032221.6(STXBP1):c.1331C>T (p.Ala444Val)
|
rs1216426174
|
0.00001
|
NM_001032221.6(STXBP1):c.1338C>T (p.Leu446=)
|
rs752950410
|
0.00001
|
NM_001032221.6(STXBP1):c.1360-15T>C
|
rs763197862
|
0.00001
|
NM_001032221.6(STXBP1):c.1360-7C>T
|
rs895077278
|
0.00001
|
NM_001032221.6(STXBP1):c.1365G>A (p.Thr455=)
|
rs767843953
|
0.00001
|
NM_001032221.6(STXBP1):c.1373G>A (p.Arg458His)
|
rs796053371
|
0.00001
|
NM_001032221.6(STXBP1):c.1375C>T (p.Arg459Trp)
|
rs750968891
|
0.00001
|
NM_001032221.6(STXBP1):c.1461+12G>A
|
rs369896782
|
0.00001
|
NM_001032221.6(STXBP1):c.1599T>C (p.Ser533=)
|
rs755906740
|
0.00001
|
NM_001032221.6(STXBP1):c.1656C>T (p.Cys552=)
|
rs942940725
|
0.00001
|
NM_001032221.6(STXBP1):c.1659C>T (p.Ala553=)
|
rs772279866
|
0.00001
|
NM_001032221.6(STXBP1):c.169+10C>T
|
rs1060504318
|
0.00001
|
NM_001032221.6(STXBP1):c.169+14C>T
|
rs755773785
|
0.00001
|
NM_001032221.6(STXBP1):c.1702+1799C>T
|
rs1057523938
|
0.00001
|
NM_001032221.6(STXBP1):c.1702+9C>T
|
rs1026137028
|
0.00001
|
NM_001032221.6(STXBP1):c.246+12A>G
|
rs770867031
|
0.00001
|
NM_001032221.6(STXBP1):c.246+8T>C
|
rs746997293
|
0.00001
|
NM_001032221.6(STXBP1):c.249C>T (p.Ser83=)
|
rs756273104
|
0.00001
|
NM_001032221.6(STXBP1):c.285G>A (p.Pro95=)
|
rs773724420
|
0.00001
|
NM_001032221.6(STXBP1):c.309C>T (p.His103=)
|
rs763763696
|
0.00001
|
NM_001032221.6(STXBP1):c.326-10A>G
|
rs772431982
|
0.00001
|
NM_001032221.6(STXBP1):c.326-16T>C
|
rs1450982335
|
0.00001
|
NM_001032221.6(STXBP1):c.429+12T>C
|
rs1057522202
|
0.00001
|
NM_001032221.6(STXBP1):c.42T>C (p.Ile14=)
|
rs755497428
|
0.00001
|
NM_001032221.6(STXBP1):c.430-7T>G
|
rs981193334
|
0.00001
|
NM_001032221.6(STXBP1):c.512G>A (p.Arg171His)
|
rs773211322
|
0.00001
|
NM_001032221.6(STXBP1):c.531G>A (p.Ala177=)
|
rs1057520999
|
0.00001
|
NM_001032221.6(STXBP1):c.547C>T (p.Leu183=)
|
rs753725349
|
0.00001
|
NM_001032221.6(STXBP1):c.558C>T (p.Tyr186=)
|
rs1841140996
|
0.00001
|
NM_001032221.6(STXBP1):c.578+11G>T
|
rs201797980
|
0.00001
|
NM_001032221.6(STXBP1):c.675G>A (p.Lys225=)
|
rs1554777466
|
0.00001
|
NM_001032221.6(STXBP1):c.690C>T (p.Leu230=)
|
rs764186314
|
0.00001
|
NM_001032221.6(STXBP1):c.795-14C>T
|
rs754375406
|
0.00001
|
NM_001032221.6(STXBP1):c.813C>T (p.Ile271=)
|
rs965524767
|
0.00001
|
NM_001032221.6(STXBP1):c.823C>T (p.Arg275Trp)
|
rs780641675
|
0.00001
|
NM_001032221.6(STXBP1):c.852C>T (p.Asp284=)
|
rs141782684
|
0.00001
|
NM_001032221.6(STXBP1):c.855C>T (p.Asp285=)
|
rs143755818
|
0.00001
|
NM_001032221.6(STXBP1):c.856G>A (p.Asp286Asn)
|
rs768644260
|
0.00001
|
NM_001032221.6(STXBP1):c.861G>A (p.Leu287=)
|
rs984512975
|
0.00001
|
NM_001032221.6(STXBP1):c.876C>T (p.Arg292=)
|
rs778838622
|
0.00001
|
NM_001032221.6(STXBP1):c.88-11T>C
|
rs1363749374
|
0.00001
|
NM_001032221.6(STXBP1):c.902+10C>T
|
rs760108945
|
0.00001
|
NM_001032221.6(STXBP1):c.942G>A (p.Lys314=)
|
rs1257587761
|
0.00001
|
NM_001032221.6(STXBP1):c.975G>A (p.Arg325=)
|
rs1376618964
|
0.00001
|
NM_003165.6(STXBP1):c.1722T>A (p.Thr574=)
|
rs377721017
|
0.00001
|
NC_000009.11:g.(?_130438063)_(130446756_?)dup
|
|
|
NC_000009.12:g.(?_127668060)_(127684497_?)dup
|
|
|
NM_001032221.6(STXBP1):c.1029+19A>T
|
|
|
NM_001032221.6(STXBP1):c.1029+8A>G
|
rs2131497514
|
|
NM_001032221.6(STXBP1):c.1030-19C>G
|
|
|
NM_001032221.6(STXBP1):c.1030-5C>G
|
|
|
NM_001032221.6(STXBP1):c.1086A>G (p.Val362=)
|
|
|
NM_001032221.6(STXBP1):c.1098C>T (p.Cys366=)
|
rs2131501402
|
|
NM_001032221.6(STXBP1):c.1104G>A (p.Val368=)
|
|
|
NM_001032221.6(STXBP1):c.1110+11C>T
|
|
|
NM_001032221.6(STXBP1):c.1110+14_1110+17del
|
|
|
NM_001032221.6(STXBP1):c.1110+18C>T
|
|
|
NM_001032221.6(STXBP1):c.1111-11G>A
|
|
|
NM_001032221.6(STXBP1):c.1111-15G>C
|
|
|
NM_001032221.6(STXBP1):c.1111-7T>C
|
|
|
NM_001032221.6(STXBP1):c.1111-9T>C
|
|
|
NM_001032221.6(STXBP1):c.1114C>A (p.Leu372Met)
|
rs1841722496
|
|
NM_001032221.6(STXBP1):c.1116G>C (p.Leu372=)
|
|
|
NM_001032221.6(STXBP1):c.1124G>A (p.Gly375Asp)
|
rs2131509770
|
|
NM_001032221.6(STXBP1):c.1164A>G (p.Arg388=)
|
rs1254150561
|
|
NM_001032221.6(STXBP1):c.1167C>T (p.Ala389=)
|
|
|
NM_001032221.6(STXBP1):c.1170C>T (p.Ile390=)
|
rs2131509902
|
|
NM_001032221.6(STXBP1):c.1176C>T (p.Pro392=)
|
|
|
NM_001032221.6(STXBP1):c.1200C>T (p.Ser400=)
|
rs2131510012
|
|
NM_001032221.6(STXBP1):c.1206T>C (p.Tyr402=)
|
|
|
NM_001032221.6(STXBP1):c.1249+10_1249+27del
|
rs1481500212
|
|
NM_001032221.6(STXBP1):c.1249+19G>A
|
rs769217385
|
|
NM_001032221.6(STXBP1):c.1249+9G>A
|
rs372869649
|
|
NM_001032221.6(STXBP1):c.1249+9G>C
|
rs372869649
|
|
NM_001032221.6(STXBP1):c.1250-15G>A
|
|
|
NM_001032221.6(STXBP1):c.1250-17G>C
|
rs1477546983
|
|
NM_001032221.6(STXBP1):c.1250-19G>C
|
rs370856785
|
|
NM_001032221.6(STXBP1):c.1250-19G>T
|
|
|
NM_001032221.6(STXBP1):c.1250-20C>G
|
rs368217811
|
|
NM_001032221.6(STXBP1):c.1254C>T (p.Ile418=)
|
rs2131513094
|
|
NM_001032221.6(STXBP1):c.1260G>A (p.Glu420=)
|
rs1564354858
|
|
NM_001032221.6(STXBP1):c.1281C>G (p.Ile427Met)
|
rs1329067269
|
|
NM_001032221.6(STXBP1):c.1288G>T (p.Ala430Ser)
|
|
|
NM_001032221.6(STXBP1):c.1299C>A (p.Pro433=)
|
|
|
NM_001032221.6(STXBP1):c.1305G>A (p.Glu435=)
|
rs1841768984
|
|
NM_001032221.6(STXBP1):c.1326C>T (p.Asn442=)
|
|
|
NM_001032221.6(STXBP1):c.1338C>A (p.Leu446=)
|
rs752950410
|
|
NM_001032221.6(STXBP1):c.134G>T (p.Cys45Phe)
|
rs1840656429
|
|
NM_001032221.6(STXBP1):c.1360-10G>A
|
rs2131521467
|
|
NM_001032221.6(STXBP1):c.1360-17T>C
|
|
|
NM_001032221.6(STXBP1):c.1360-18G>C
|
rs558843667
|
|
NM_001032221.6(STXBP1):c.1360-18G>T
|
|
|
NM_001032221.6(STXBP1):c.1366C>T (p.Leu456=)
|
rs1841863163
|
|
NM_001032221.6(STXBP1):c.1377G>C (p.Arg459=)
|
|
|
NM_001032221.6(STXBP1):c.1386G>T (p.Pro462=)
|
|
|
NM_001032221.6(STXBP1):c.1390C>T (p.Arg464Trp)
|
rs1239532436
|
|
NM_001032221.6(STXBP1):c.1391G>A (p.Arg464Gln)
|
rs1381421236
|
|
NM_001032221.6(STXBP1):c.1398A>G (p.Glu466=)
|
rs1046520263
|
|
NM_001032221.6(STXBP1):c.1407C>T (p.Ser469=)
|
|
|
NM_001032221.6(STXBP1):c.1408G>A (p.Glu470Lys)
|
|
|
NM_001032221.6(STXBP1):c.1440G>A (p.Pro480=)
|
|
|
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=)
|
rs1462537561
|
|
NM_001032221.6(STXBP1):c.145G>C (p.Asp49His)
|
rs1244732832
|
|
NM_001032221.6(STXBP1):c.1461+10G>A
|
rs1453106879
|
|
NM_001032221.6(STXBP1):c.1461+17A>G
|
|
|
NM_001032221.6(STXBP1):c.1462-10T>C
|
|
|
NM_001032221.6(STXBP1):c.1467T>C (p.Thr489=)
|
|
|
NM_001032221.6(STXBP1):c.147C>T (p.Asp49=)
|
rs1373609182
|
|
NM_001032221.6(STXBP1):c.1490A>G (p.Lys497Arg)
|
rs2131528378
|
|
NM_001032221.6(STXBP1):c.1503T>C (p.Tyr501=)
|
|
|
NM_001032221.6(STXBP1):c.1547+20C>T
|
|
|
NM_001032221.6(STXBP1):c.1548-11C>G
|
rs1564357060
|
|
NM_001032221.6(STXBP1):c.1548-12T>A
|
|
|
NM_001032221.6(STXBP1):c.1548-13C>T
|
|
|
NM_001032221.6(STXBP1):c.1548-18TC[2]
|
rs148316151
|
|
NM_001032221.6(STXBP1):c.1548-18TC[3]
|
rs148316151
|
|
NM_001032221.6(STXBP1):c.1548-18TC[4]
|
rs148316151
|
|
NM_001032221.6(STXBP1):c.1548-19_1548-18del
|
|
|
NM_001032221.6(STXBP1):c.1548-7_1548-6del
|
|
|
NM_001032221.6(STXBP1):c.1548-8_1548-3del
|
rs768558279
|
|
NM_001032221.6(STXBP1):c.1549G>A (p.Ala517Thr)
|
rs1057518123
|
|
NM_001032221.6(STXBP1):c.1554C>T (p.Arg518=)
|
|
|
NM_001032221.6(STXBP1):c.1593C>T (p.Tyr531=)
|
rs767199598
|
|
NM_001032221.6(STXBP1):c.1605C>T (p.Pro535=)
|
rs779926394
|
|
NM_001032221.6(STXBP1):c.1623C>A (p.Ile541=)
|
rs1278265158
|
|
NM_001032221.6(STXBP1):c.1633G>A (p.Val545Met)
|
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NM_001032221.6(STXBP1):c.1647G>A (p.Glu549=)
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NM_001032221.6(STXBP1):c.1674G>A (p.Gln558=)
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rs1842048227
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NM_001032221.6(STXBP1):c.169+10C>A
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rs1060504318
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NM_001032221.6(STXBP1):c.169+11G>A
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NM_001032221.6(STXBP1):c.169+18A>C
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rs377086674
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NM_001032221.6(STXBP1):c.169+6C>T
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NM_001032221.6(STXBP1):c.169+8T>C
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NM_001032221.6(STXBP1):c.170-18G>A
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NM_001032221.6(STXBP1):c.170-18G>T
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NM_001032221.6(STXBP1):c.1702+12T>C
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NM_001032221.6(STXBP1):c.1702+15T>A
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NM_001032221.6(STXBP1):c.1702+1790G>A
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NM_001032221.6(STXBP1):c.1702+1794C>G
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rs2131542998
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NM_001032221.6(STXBP1):c.1702+1801C>T
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rs2131543011
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NM_001032221.6(STXBP1):c.171T>C (p.Ile57=)
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rs1554776675
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NM_001032221.6(STXBP1):c.182T>C (p.Ile61Thr)
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NM_001032221.6(STXBP1):c.198G>A (p.Glu66=)
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NM_001032221.6(STXBP1):c.201G>T (p.Pro67=)
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rs377398330
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NM_001032221.6(STXBP1):c.207C>T (p.Pro69=)
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rs1417891697
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NM_001032221.6(STXBP1):c.214G>A (p.Glu72Lys)
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rs754668616
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NM_001032221.6(STXBP1):c.216G>A (p.Glu72=)
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rs2132460966
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NM_001032221.6(STXBP1):c.234T>G (p.Thr78=)
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rs1564348777
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NM_001032221.6(STXBP1):c.240C>T (p.Ser80=)
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rs564021862
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NM_001032221.6(STXBP1):c.246+14C>A
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NM_001032221.6(STXBP1):c.247-11C>G
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NM_001032221.6(STXBP1):c.247-11C>T
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NM_001032221.6(STXBP1):c.247-13C>T
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rs763971558
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NM_001032221.6(STXBP1):c.247-17T>C
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NM_001032221.6(STXBP1):c.247-18T>C
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NM_001032221.6(STXBP1):c.247-9C>A
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rs757257907
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NM_001032221.6(STXBP1):c.247-9C>G
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NM_001032221.6(STXBP1):c.249C>G (p.Ser83=)
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NM_001032221.6(STXBP1):c.267T>C (p.Ser89=)
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rs1554776832
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NM_001032221.6(STXBP1):c.285G>T (p.Pro95=)
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rs773724420
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NM_001032221.6(STXBP1):c.300G>A (p.Arg100=)
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NM_001032221.6(STXBP1):c.306A>G (p.Ala102=)
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NM_001032221.6(STXBP1):c.325+10A>G
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NM_001032221.6(STXBP1):c.326-13G>A
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NM_001032221.6(STXBP1):c.326-20G>A
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NM_001032221.6(STXBP1):c.339C>T (p.Ala113=)
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NM_001032221.6(STXBP1):c.38-14_38-13del
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rs768774516
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NM_001032221.6(STXBP1):c.38-5T>C
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rs2132436505
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NM_001032221.6(STXBP1):c.38-7T>G
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rs2132436494
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NM_001032221.6(STXBP1):c.381C>A (p.Ile127=)
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NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met)
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rs2131455010
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NM_001032221.6(STXBP1):c.393G>A (p.Thr131=)
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NM_001032221.6(STXBP1):c.405T>C (p.Ile135=)
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NM_001032221.6(STXBP1):c.417G>A (p.Pro139=)
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rs931563377
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NM_001032221.6(STXBP1):c.426C>T (p.Ser142=)
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rs1841030655
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NM_001032221.6(STXBP1):c.430-4C>T
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NM_001032221.6(STXBP1):c.444C>T (p.Asp148=)
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rs1841132483
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NM_001032221.6(STXBP1):c.453C>T (p.Asp151=)
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NM_001032221.6(STXBP1):c.456T>G (p.Ser152=)
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rs2131462456
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NM_001032221.6(STXBP1):c.486T>A (p.Ala162=)
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NM_001032221.6(STXBP1):c.486T>C (p.Ala162=)
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NM_001032221.6(STXBP1):c.510G>A (p.Glu170=)
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rs1793959490
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NM_001032221.6(STXBP1):c.524A>C (p.Gln175Pro)
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NM_001032221.6(STXBP1):c.528C>T (p.Ile176=)
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NM_001032221.6(STXBP1):c.529G>A (p.Ala177Thr)
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rs1411421913
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NM_001032221.6(STXBP1):c.52G>A (p.Val18Met)
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rs2132436612
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NM_001032221.6(STXBP1):c.574C>T (p.Arg192Trp)
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rs1841142873
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NM_001032221.6(STXBP1):c.579-7T>C
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rs2131469008
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NM_001032221.6(STXBP1):c.585C>T (p.Tyr195=)
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NM_001032221.6(STXBP1):c.597C>T (p.Ala199=)
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NM_001032221.6(STXBP1):c.60G>A (p.Lys20=)
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NM_001032221.6(STXBP1):c.615C>A (p.Ile205=)
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NM_001032221.6(STXBP1):c.624G>A (p.Lys208=)
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rs1841237495
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NM_001032221.6(STXBP1):c.664-12G>A
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NM_001032221.6(STXBP1):c.664-12G>C
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NM_001032221.6(STXBP1):c.664-13T>C
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rs1554777463
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NM_001032221.6(STXBP1):c.664-18C>T
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NM_001032221.6(STXBP1):c.669A>C (p.Pro223=)
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NM_001032221.6(STXBP1):c.681C>T (p.Arg227=)
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rs553892771
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NM_001032221.6(STXBP1):c.690C>G (p.Leu230=)
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NM_001032221.6(STXBP1):c.699G>A (p.Leu233=)
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NM_001032221.6(STXBP1):c.729G>A (p.Val243=)
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NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)
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NM_001032221.6(STXBP1):c.753T>A (p.Ala251=)
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rs761987600
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NM_001032221.6(STXBP1):c.753T>C (p.Ala251=)
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NM_001032221.6(STXBP1):c.75G>A (p.Lys25=)
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NM_001032221.6(STXBP1):c.778G>A (p.Glu260Lys)
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rs1841290624
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NM_001032221.6(STXBP1):c.786T>G (p.Asp262Glu)
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rs2131473084
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NM_001032221.6(STXBP1):c.794+10G>C
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NM_001032221.6(STXBP1):c.794+15A>G
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NM_001032221.6(STXBP1):c.795-11C>G
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NM_001032221.6(STXBP1):c.795-13G>A
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NM_001032221.6(STXBP1):c.795-18G>A
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NM_001032221.6(STXBP1):c.795-20G>T
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NM_001032221.6(STXBP1):c.795-6T>C
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rs2131481198
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NM_001032221.6(STXBP1):c.795-7A>G
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NM_001032221.6(STXBP1):c.797A>G (p.Tyr266Cys)
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rs2131481245
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NM_001032221.6(STXBP1):c.798T>C (p.Tyr266=)
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rs751170778
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NM_001032221.6(STXBP1):c.809G>T (p.Gly270Val)
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rs2131481318
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NM_001032221.6(STXBP1):c.814G>A (p.Gly272Arg)
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rs1841382363
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NM_001032221.6(STXBP1):c.815G>A (p.Gly272Glu)
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rs1554777718
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NM_001032221.6(STXBP1):c.819G>A (p.Glu273=)
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NM_001032221.6(STXBP1):c.837G>T (p.Val279=)
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NM_001032221.6(STXBP1):c.859C>T (p.Leu287=)
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rs1841385147
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NM_001032221.6(STXBP1):c.87+16A>G
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rs2132436854
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NM_001032221.6(STXBP1):c.87+19T>C
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NM_001032221.6(STXBP1):c.88-20G>A
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NM_001032221.6(STXBP1):c.88-9T>C
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NM_001032221.6(STXBP1):c.882G>A (p.Lys294=)
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rs1325070688
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NM_001032221.6(STXBP1):c.888C>A (p.Ile296=)
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rs201302013
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NM_001032221.6(STXBP1):c.891A>T (p.Ala297=)
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NM_001032221.6(STXBP1):c.902+10C>A
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rs760108945
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NM_001032221.6(STXBP1):c.902+12C>A
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NM_001032221.6(STXBP1):c.902+16C>T
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NM_001032221.6(STXBP1):c.902+7G>C
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rs761007581
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NM_001032221.6(STXBP1):c.902+9_902+28del
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rs1588324230
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NM_001032221.6(STXBP1):c.903-9A>G
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NM_001032221.6(STXBP1):c.903-9A>T
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NM_001032221.6(STXBP1):c.912C>T (p.Thr304=)
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NM_001032221.6(STXBP1):c.915G>A (p.Arg305=)
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rs2131488913
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NM_001032221.6(STXBP1):c.963+10T>G
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NM_001032221.6(STXBP1):c.963+12C>G
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NM_001032221.6(STXBP1):c.963+9A>T
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NM_001032221.6(STXBP1):c.964-20T>G
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NM_001032221.6(STXBP1):c.964-8C>A
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NM_001032221.6(STXBP1):c.964-9C>G
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rs1034636066
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NM_001032221.6(STXBP1):c.966C>A (p.Thr322=)
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NM_001032221.6(STXBP1):c.96G>T (p.Val32=)
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NM_003165.6(STXBP1):c.1713C>T (p.His571=)
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rs1053771056
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NM_003165.6(STXBP1):c.1752C>T (p.His584=)
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NM_003165.6(STXBP1):c.1803A>G (p.Thr601=)
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