NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp)
|
rs764758291
|
0.00001
|
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys)
|
rs1316686443
|
0.00001
|
GRCh37/hg19 9q34.11(chr9:130438083-130446756)x1
|
|
|
NC_000009.12:g.(?_127672031)_(127676773_?)del
|
|
|
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.1029+1G>A
|
rs727504173
|
|
NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp)
|
rs1841611651
|
|
NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro)
|
rs2131501072
|
|
NM_001032221.6(STXBP1):c.1060T>G (p.Cys354Gly)
|
rs886041337
|
|
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr)
|
rs796053365
|
|
NM_001032221.6(STXBP1):c.1072del (p.Tyr358fs)
|
rs1057518989
|
|
NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)
|
|
|
NM_001032221.6(STXBP1):c.1082C>T (p.Thr361Ile)
|
rs1057518985
|
|
NM_001032221.6(STXBP1):c.1105G>A (p.Glu369Lys)
|
rs1841616772
|
|
NM_001032221.6(STXBP1):c.1110+1G>A
|
|
|
NM_001032221.6(STXBP1):c.1110+2T>G
|
|
|
NM_001032221.6(STXBP1):c.1110+3A>C
|
rs2131501481
|
|
NM_001032221.6(STXBP1):c.1111-10_1111-6delinsG
|
rs1588339504
|
|
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val)
|
rs1554778420
|
|
NM_001032221.6(STXBP1):c.1216C>A (p.Arg406Ser)
|
|
|
NM_001032221.6(STXBP1):c.1216C>G (p.Arg406Gly)
|
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.122T>A (p.Leu41Gln)
|
|
|
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro)
|
rs886041668
|
|
NM_001032221.6(STXBP1):c.1250-2A>G
|
|
|
NM_001032221.6(STXBP1):c.125C>A (p.Ser42Tyr)
|
rs1840655911
|
|
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)
|
rs796053381
|
|
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)
|
rs886039435
|
|
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg)
|
rs886039435
|
|
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter)
|
rs2131513223
|
|
NM_001032221.6(STXBP1):c.1315A>T (p.Ile439Phe)
|
|
|
NM_001032221.6(STXBP1):c.1316T>A (p.Ile439Asn)
|
|
|
NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del)
|
rs1841769844
|
|
NM_001032221.6(STXBP1):c.1359+5G>C
|
|
|
NM_001032221.6(STXBP1):c.1360-2A>C
|
rs1057522982
|
|
NM_001032221.6(STXBP1):c.1360-2A>G
|
rs1057522982
|
|
NM_001032221.6(STXBP1):c.1360-2A>T
|
rs1057522982
|
|
NM_001032221.6(STXBP1):c.136A>G (p.Lys46Glu)
|
rs1840656743
|
|
NM_001032221.6(STXBP1):c.1390C>G (p.Arg464Gly)
|
|
|
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser)
|
rs1841869298
|
|
NM_001032221.6(STXBP1):c.1454T>A (p.Ile485Asn)
|
rs1564355642
|
|
NM_001032221.6(STXBP1):c.1457T>G (p.Met486Arg)
|
rs2131522449
|
|
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs)
|
rs2132444703
|
|
NM_001032221.6(STXBP1):c.1461+1G>A
|
|
|
NM_001032221.6(STXBP1):c.1461+1G>T
|
|
|
NM_001032221.6(STXBP1):c.1461G>C (p.Glu487Asp)
|
rs1554778676
|
|
NM_001032221.6(STXBP1):c.1473_1475del (p.Glu491del)
|
rs1841944944
|
|
NM_001032221.6(STXBP1):c.1493_1505del (p.His498fs)
|
rs2131528405
|
|
NM_001032221.6(STXBP1):c.1533_1543del (p.Thr512fs)
|
|
|
NM_001032221.6(STXBP1):c.1549G>T (p.Ala517Ser)
|
rs1057518123
|
|
NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg)
|
rs2131535795
|
|
NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg)
|
rs1842044505
|
|
NM_001032221.6(STXBP1):c.1642A>G (p.Asn548Asp)
|
rs1057523381
|
|
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.1652G>A (p.Arg551His)
|
|
|
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.1657G>C (p.Ala553Pro)
|
|
|
NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)
|
|
|
NM_001032221.6(STXBP1):c.1662C>G (p.Tyr554Ter)
|
|
|
NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg)
|
rs1554776228
|
|
NM_001032221.6(STXBP1):c.1702+1G>A
|
rs796053377
|
|
NM_001032221.6(STXBP1):c.218_246+22del
|
rs2132460935
|
|
NM_001032221.6(STXBP1):c.224A>G (p.Tyr75Cys)
|
rs796053352
|
|
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)
|
rs1588302912
|
|
NM_001032221.6(STXBP1):c.246+1G>C
|
rs1840868164
|
|
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)
|
|
|
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del)
|
rs1588306876
|
|
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro)
|
rs1588306948
|
|
NM_001032221.6(STXBP1):c.325+2T>A
|
rs1840976417
|
|
NM_001032221.6(STXBP1):c.325+2_325+3del
|
rs1554776853
|
|
NM_001032221.6(STXBP1):c.326-1G>T
|
rs1554776948
|
|
NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg)
|
rs2131454649
|
|
NM_001032221.6(STXBP1):c.385A>C (p.Thr129Pro)
|
rs1060501724
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001032221.6(STXBP1):c.429+2T>G
|
|
|
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe)
|
rs1211863124
|
|
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His)
|
rs587784455
|
|
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys)
|
rs2131462357
|
|
NM_001032221.6(STXBP1):c.451_454del (p.Asp151fs)
|
|
|
NM_001032221.6(STXBP1):c.536T>A (p.Leu179His)
|
rs2131462929
|
|
NM_001032221.6(STXBP1):c.554A>G (p.Glu185Gly)
|
rs1841140785
|
|
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
|
rs1841141204
|
|
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)
|
rs796053356
|
|
NM_001032221.6(STXBP1):c.579-1G>A
|
rs1588317190
|
|
NM_001032221.6(STXBP1):c.620A>G (p.Asp207Gly)
|
|
|
NM_001032221.6(STXBP1):c.624del (p.Lys208fs)
|
rs1841237663
|
|
NM_001032221.6(STXBP1):c.660_661del (p.Glu221fs)
|
rs1841239642
|
|
NM_001032221.6(STXBP1):c.664-1G>A
|
rs1554777464
|
|
NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup)
|
rs1841284648
|
|
NM_001032221.6(STXBP1):c.690_697delinsT (p.Leu231fs)
|
|
|
NM_001032221.6(STXBP1):c.695T>A (p.Ile232Asn)
|
rs1085308022
|
|
NM_001032221.6(STXBP1):c.701A>G (p.Asp234Gly)
|
|
|
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly)
|
rs796053359
|
|
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
|
rs794727970
|
|
NM_001032221.6(STXBP1):c.707G>A (p.Gly236Asp)
|
rs1554777474
|
|
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.734A>G (p.His245Arg)
|
rs587784453
|
|
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile)
|
rs1057524795
|
|
NM_001032221.6(STXBP1):c.748C>G (p.Gln250Glu)
|
|
|
NM_001032221.6(STXBP1):c.754A>G (p.Met252Val)
|
|
|
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.784G>T (p.Asp262Tyr)
|
rs1841290957
|
|
NM_001032221.6(STXBP1):c.785A>T (p.Asp262Val)
|
rs2131473052
|
|
NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro)
|
rs2131481488
|
|
NM_001032221.6(STXBP1):c.860T>C (p.Leu287Pro)
|
rs2131481623
|
|
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)
|
rs1588324025
|
|
NM_001032221.6(STXBP1):c.863_865delinsTGG (p.Trp288_Ile289delinsLeuVal)
|
rs2131481685
|
|
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.877C>T (p.His293Tyr)
|
rs1057517880
|
|
NM_001032221.6(STXBP1):c.889G>T (p.Ala297Ser)
|
|
|
NM_001032221.6(STXBP1):c.88G>A (p.Val30Met)
|
rs1840653229
|
|
NM_001032221.6(STXBP1):c.902+4A>G
|
rs1554777733
|
|
NM_001032221.6(STXBP1):c.915del (p.Ser306fs)
|
rs2131488897
|
|
NM_001032221.6(STXBP1):c.947_962del (p.Met316fs)
|
|
|
NM_001032221.6(STXBP1):c.963+3A>C
|
rs2131489143
|
|
NM_001032221.6(STXBP1):c.98T>A (p.Val33Glu)
|
rs1840653547
|
|
NM_001032221.6(STXBP1):c.993del (p.Lys332fs)
|
rs2131497300
|
|
NM_003165.6(STXBP1):c.1708A>G (p.Thr570Ala)
|
rs1131691742
|
|
NM_003165.6(STXBP1):c.1809G>T (p.Glu603Asp)
|
rs2131543392
|
|