NM_001032221.6(STXBP1):c.865A>G (p.Ile289Val)
|
rs1334061327
|
0.00010
|
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)
|
rs201809337
|
0.00005
|
NM_001032221.6(STXBP1):c.1598G>C (p.Ser533Thr)
|
rs750155933
|
0.00003
|
NM_001032221.6(STXBP1):c.310G>A (p.Val104Ile)
|
rs751437146
|
0.00002
|
NM_001032221.6(STXBP1):c.429+3G>A
|
rs368213197
|
0.00002
|
NM_001032221.6(STXBP1):c.913C>T (p.Arg305Trp)
|
rs775811887
|
0.00002
|
NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile)
|
rs1046891783
|
0.00001
|
NM_001032221.6(STXBP1):c.1110+6A>T
|
rs886063467
|
0.00001
|
NM_001032221.6(STXBP1):c.1219A>G (p.Ile407Val)
|
rs1841727258
|
0.00001
|
NM_001032221.6(STXBP1):c.1250G>A (p.Gly417Asp)
|
rs796053369
|
0.00001
|
NM_001032221.6(STXBP1):c.1288G>A (p.Ala430Thr)
|
rs148131665
|
0.00001
|
NM_001032221.6(STXBP1):c.1360-7C>T
|
rs895077278
|
0.00001
|
NM_001032221.6(STXBP1):c.1364C>T (p.Thr455Met)
|
rs762251880
|
0.00001
|
NM_001032221.6(STXBP1):c.1370G>A (p.Arg457His)
|
rs796053389
|
0.00001
|
NM_001032221.6(STXBP1):c.1514G>A (p.Arg505His)
|
rs796053372
|
0.00001
|
NM_001032221.6(STXBP1):c.1606C>T (p.Arg536Cys)
|
rs1241329041
|
0.00001
|
NM_001032221.6(STXBP1):c.1607G>A (p.Arg536His)
|
rs749244650
|
0.00001
|
NM_001032221.6(STXBP1):c.1702+6T>C
|
rs1453195192
|
0.00001
|
NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp)
|
rs764758291
|
0.00001
|
NM_001032221.6(STXBP1):c.367G>A (p.Ala123Thr)
|
rs1841026087
|
0.00001
|
NM_001032221.6(STXBP1):c.419A>G (p.Tyr140Cys)
|
rs774228113
|
0.00001
|
NM_001032221.6(STXBP1):c.505C>A (p.Leu169Met)
|
rs1410933215
|
0.00001
|
NM_001032221.6(STXBP1):c.511C>T (p.Arg171Cys)
|
rs201772971
|
0.00001
|
NM_001032221.6(STXBP1):c.73A>C (p.Lys25Gln)
|
rs756787732
|
0.00001
|
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys)
|
rs1316686443
|
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.1749A>C (p.Arg583Ser)
|
rs757607352
|
0.00001
|
NM_003165.6(STXBP1):c.1756G>A (p.Asp586Asn)
|
rs746172968
|
0.00001
|
NC_000009.11:g.(?_130415988)_(130432243_?)dup
|
|
|
NM_001032221.6(STXBP1):c.1008G>C (p.Gln336His)
|
|
|
NM_001032221.6(STXBP1):c.100G>A (p.Asp34Asn)
|
|
|
NM_001032221.6(STXBP1):c.1029+3A>G
|
|
|
NM_001032221.6(STXBP1):c.1048C>T (p.Leu350Phe)
|
rs2131501109
|
|
NM_001032221.6(STXBP1):c.1070A>C (p.His357Pro)
|
|
|
NM_001032221.6(STXBP1):c.1088A>T (p.Asp363Val)
|
|
|
NM_001032221.6(STXBP1):c.1093C>G (p.Leu365Val)
|
|
|
NM_001032221.6(STXBP1):c.1107G>T (p.Glu369Asp)
|
|
|
NM_001032221.6(STXBP1):c.1109A>G (p.Gln370Arg)
|
|
|
NM_001032221.6(STXBP1):c.1110+5G>A
|
|
|
NM_001032221.6(STXBP1):c.1111-3T>A
|
|
|
NM_001032221.6(STXBP1):c.1111G>T (p.Asp371Tyr)
|
|
|
NM_001032221.6(STXBP1):c.1115T>C (p.Leu372Pro)
|
|
|
NM_001032221.6(STXBP1):c.1118_1123del (p.Ala373_Met374del)
|
rs2131509733
|
|
NM_001032221.6(STXBP1):c.1121_1126del (p.Met374_Gly375del)
|
rs2131509749
|
|
NM_001032221.6(STXBP1):c.1124G>T (p.Gly375Val)
|
|
|
NM_001032221.6(STXBP1):c.113T>C (p.Met38Thr)
|
rs538684549
|
|
NM_001032221.6(STXBP1):c.1159A>G (p.Met387Val)
|
|
|
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val)
|
rs1554778420
|
|
NM_001032221.6(STXBP1):c.1171G>A (p.Val391Ile)
|
|
|
NM_001032221.6(STXBP1):c.117G>T (p.Arg39Ser)
|
rs2132444493
|
|
NM_001032221.6(STXBP1):c.1193A>G (p.Asn398Ser)
|
rs750585484
|
|
NM_001032221.6(STXBP1):c.119T>A (p.Met40Lys)
|
rs1840654963
|
|
NM_001032221.6(STXBP1):c.1219A>C (p.Ile407Leu)
|
|
|
NM_001032221.6(STXBP1):c.1241T>C (p.Leu414Ser)
|
rs1286774865
|
|
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)
|
rs796053381
|
|
NM_001032221.6(STXBP1):c.1295T>A (p.Ile432Lys)
|
rs1841768122
|
|
NM_001032221.6(STXBP1):c.1306G>A (p.Asp436Asn)
|
rs149691747
|
|
NM_001032221.6(STXBP1):c.130TGC[1] (p.Cys45del)
|
rs2132444621
|
|
NM_001032221.6(STXBP1):c.1310G>A (p.Ser437Asn)
|
rs1841769481
|
|
NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del)
|
rs1841769844
|
|
NM_001032221.6(STXBP1):c.1325A>G (p.Asn442Ser)
|
rs1564354895
|
|
NM_001032221.6(STXBP1):c.1328T>A (p.Met443Lys)
|
|
|
NM_001032221.6(STXBP1):c.1337T>C (p.Leu446Pro)
|
|
|
NM_001032221.6(STXBP1):c.1339G>A (p.Gly447Ser)
|
|
|
NM_001032221.6(STXBP1):c.1342G>A (p.Val448Met)
|
|
|
NM_001032221.6(STXBP1):c.1345C>G (p.Pro449Ala)
|
|
|
NM_001032221.6(STXBP1):c.1349T>C (p.Ile450Thr)
|
rs1554778503
|
|
NM_001032221.6(STXBP1):c.1359+5G>A
|
rs2131513670
|
|
NM_001032221.6(STXBP1):c.1372C>T (p.Arg458Cys)
|
|
|
NM_001032221.6(STXBP1):c.1388A>G (p.Glu463Gly)
|
rs2131521876
|
|
NM_001032221.6(STXBP1):c.1400G>T (p.Arg467Leu)
|
|
|
NM_001032221.6(STXBP1):c.1405A>T (p.Ser469Cys)
|
rs2131522070
|
|
NM_001032221.6(STXBP1):c.1424_1425delinsAA (p.Leu475Gln)
|
|
|
NM_001032221.6(STXBP1):c.1430G>A (p.Arg477Gln)
|
rs2131522253
|
|
NM_001032221.6(STXBP1):c.1444A>C (p.Ile482Leu)
|
|
|
NM_001032221.6(STXBP1):c.1453A>G (p.Ile485Val)
|
|
|
NM_001032221.6(STXBP1):c.1461G>T (p.Glu487Asp)
|
|
|
NM_001032221.6(STXBP1):c.1480C>T (p.Leu494Phe)
|
rs1554778810
|
|
NM_001032221.6(STXBP1):c.1502A>T (p.Tyr501Phe)
|
rs2131528449
|
|
NM_001032221.6(STXBP1):c.1532G>C (p.Ser511Thr)
|
|
|
NM_001032221.6(STXBP1):c.1540G>A (p.Ala514Thr)
|
rs1333091651
|
|
NM_001032221.6(STXBP1):c.1553G>A (p.Arg518His)
|
|
|
NM_001032221.6(STXBP1):c.157G>C (p.Glu53Gln)
|
|
|
NM_001032221.6(STXBP1):c.1595G>A (p.Arg532His)
|
rs890000182
|
|
NM_001032221.6(STXBP1):c.1634T>G (p.Val545Gly)
|
|
|
NM_001032221.6(STXBP1):c.1642A>C (p.Asn548His)
|
|
|
NM_001032221.6(STXBP1):c.1649T>A (p.Met550Lys)
|
rs2131536008
|
|
NM_001032221.6(STXBP1):c.1654T>C (p.Cys552Arg)
|
rs1842046459
|
|
NM_001032221.6(STXBP1):c.1657G>A (p.Ala553Thr)
|
|
|
NM_001032221.6(STXBP1):c.1658C>A (p.Ala553Asp)
|
|
|
NM_001032221.6(STXBP1):c.1669A>C (p.Thr557Pro)
|
rs1842047674
|
|
NM_001032221.6(STXBP1):c.1673A>C (p.Gln558Pro)
|
|
|
NM_001032221.6(STXBP1):c.1681G>A (p.Gly561Arg)
|
rs369960553
|
|
NM_001032221.6(STXBP1):c.169+5G>C
|
|
|
NM_001032221.6(STXBP1):c.1696C>A (p.Leu566Met)
|
rs2131536412
|
|
NM_001032221.6(STXBP1):c.1697T>C (p.Leu566Pro)
|
rs2131536431
|
|
NM_001032221.6(STXBP1):c.1700T>C (p.Ile567Thr)
|
rs1842049650
|
|
NM_001032221.6(STXBP1):c.170T>C (p.Ile57Thr)
|
rs2132460702
|
|
NM_001032221.6(STXBP1):c.200C>T (p.Pro67Leu)
|
|
|
NM_001032221.6(STXBP1):c.230T>C (p.Ile77Thr)
|
|
|
NM_001032221.6(STXBP1):c.238T>C (p.Ser80Pro)
|
rs1840867221
|
|
NM_001032221.6(STXBP1):c.247-17T>A
|
|
|
NM_001032221.6(STXBP1):c.247-20_247-14del
|
|
|
NM_001032221.6(STXBP1):c.248C>T (p.Ser83Phe)
|
rs2131450396
|
|
NM_001032221.6(STXBP1):c.256T>C (p.Ser86Pro)
|
|
|
NM_001032221.6(STXBP1):c.259C>G (p.Leu87Val)
|
rs1564349480
|
|
NM_001032221.6(STXBP1):c.284C>T (p.Pro95Leu)
|
|
|
NM_001032221.6(STXBP1):c.294A>C (p.Lys98Asn)
|
|
|
NM_001032221.6(STXBP1):c.305C>T (p.Ala102Val)
|
rs1840974440
|
|
NM_001032221.6(STXBP1):c.313TTC[1] (p.Phe106del)
|
rs1840975645
|
|
NM_001032221.6(STXBP1):c.316T>G (p.Phe106Val)
|
rs2131451036
|
|
NM_001032221.6(STXBP1):c.334G>C (p.Asp112His)
|
rs1841023284
|
|
NM_001032221.6(STXBP1):c.337G>A (p.Ala113Thr)
|
|
|
NM_001032221.6(STXBP1):c.338C>A (p.Ala113Asp)
|
rs1841023635
|
|
NM_001032221.6(STXBP1):c.353T>C (p.Leu118Pro)
|
rs1841024997
|
|
NM_001032221.6(STXBP1):c.364C>G (p.Arg122Gly)
|
rs794727792
|
|
NM_001032221.6(STXBP1):c.368C>A (p.Ala123Glu)
|
|
|
NM_001032221.6(STXBP1):c.377T>G (p.Val126Gly)
|
|
|
NM_001032221.6(STXBP1):c.379A>G (p.Ile127Val)
|
rs1841026859
|
|
NM_001032221.6(STXBP1):c.38-300C>T
|
rs2132435278
|
|
NM_001032221.6(STXBP1):c.423A>T (p.Glu141Asp)
|
rs1588309392
|
|
NM_001032221.6(STXBP1):c.424T>C (p.Ser142Pro)
|
|
|
NM_001032221.6(STXBP1):c.430-20A>G
|
|
|
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe)
|
rs1211863124
|
|
NM_001032221.6(STXBP1):c.436T>C (p.Ser146Pro)
|
rs1841132069
|
|
NM_001032221.6(STXBP1):c.446C>A (p.Ser149Tyr)
|
rs903312718
|
|
NM_001032221.6(STXBP1):c.45G>A (p.Met15Ile)
|
|
|
NM_001032221.6(STXBP1):c.46C>T (p.His16Tyr)
|
|
|
NM_001032221.6(STXBP1):c.475C>A (p.Pro159Thr)
|
|
|
NM_001032221.6(STXBP1):c.478C>T (p.His160Tyr)
|
|
|
NM_001032221.6(STXBP1):c.488A>G (p.Gln163Arg)
|
|
|
NM_001032221.6(STXBP1):c.494A>G (p.Lys165Arg)
|
rs1841135927
|
|
NM_001032221.6(STXBP1):c.496A>G (p.Asn166Asp)
|
|
|
NM_001032221.6(STXBP1):c.497A>G (p.Asn166Ser)
|
rs1841136116
|
|
NM_001032221.6(STXBP1):c.51T>A (p.Asp17Glu)
|
|
|
NM_001032221.6(STXBP1):c.525G>T (p.Gln175His)
|
rs2131462838
|
|
NM_001032221.6(STXBP1):c.526A>T (p.Ile176Phe)
|
rs2131462854
|
|
NM_001032221.6(STXBP1):c.530C>T (p.Ala177Val)
|
|
|
NM_001032221.6(STXBP1):c.533C>T (p.Thr178Ile)
|
rs1564350546
|
|
NM_001032221.6(STXBP1):c.548T>C (p.Leu183Pro)
|
rs794727859
|
|
NM_001032221.6(STXBP1):c.562G>C (p.Ala188Pro)
|
|
|
NM_001032221.6(STXBP1):c.56T>C (p.Ile19Thr)
|
|
|
NM_001032221.6(STXBP1):c.576G>A (p.Arg192=)
|
rs752943575
|
|
NM_001032221.6(STXBP1):c.578+6G>A
|
|
|
NM_001032221.6(STXBP1):c.578+7C>T
|
|
|
NM_001032221.6(STXBP1):c.58AAG[1] (p.Lys21del)
|
rs1840555368
|
|
NM_001032221.6(STXBP1):c.593A>G (p.Asn198Ser)
|
|
|
NM_001032221.6(STXBP1):c.595G>A (p.Ala199Thr)
|
rs1841235707
|
|
NM_001032221.6(STXBP1):c.605C>T (p.Ala202Val)
|
rs1841236507
|
|
NM_001032221.6(STXBP1):c.628G>A (p.Asp210Asn)
|
rs1348662627
|
|
NM_001032221.6(STXBP1):c.649C>T (p.Pro217Ser)
|
|
|
NM_001032221.6(STXBP1):c.655A>G (p.Met219Val)
|
|
|
NM_001032221.6(STXBP1):c.65_76del (p.Val22_Lys25del)
|
rs1840555501
|
|
NM_001032221.6(STXBP1):c.663+5G>T
|
|
|
NM_001032221.6(STXBP1):c.683C>T (p.Ser228Phe)
|
rs1554777469
|
|
NM_001032221.6(STXBP1):c.692T>C (p.Leu231Pro)
|
|
|
NM_001032221.6(STXBP1):c.714C>A (p.Asp238Glu)
|
rs587784456
|
|
NM_001032221.6(STXBP1):c.725_726insGGG (p.Pro242_Val243insGly)
|
rs2131472724
|
|
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)
|
|
|
NM_001032221.6(STXBP1):c.735T>A (p.His245Gln)
|
|
|
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile)
|
rs1057524795
|
|
NM_001032221.6(STXBP1):c.746T>C (p.Phe249Ser)
|
|
|
NM_001032221.6(STXBP1):c.748C>A (p.Gln250Lys)
|
|
|
NM_001032221.6(STXBP1):c.755T>C (p.Met252Thr)
|
rs1841289209
|
|
NM_001032221.6(STXBP1):c.758G>A (p.Ser253Asn)
|
rs1588319727
|
|
NM_001032221.6(STXBP1):c.75G>T (p.Lys25Asn)
|
|
|
NM_001032221.6(STXBP1):c.794+4_794+7del
|
rs1841291870
|
|
NM_001032221.6(STXBP1):c.830A>G (p.Lys277Arg)
|
|
|
NM_001032221.6(STXBP1):c.850G>A (p.Asp284Asn)
|
|
|
NM_001032221.6(STXBP1):c.863G>T (p.Trp288Leu)
|
rs1564352031
|
|
NM_001032221.6(STXBP1):c.87+7A>G
|
|
|
NM_001032221.6(STXBP1):c.88-16_88-5del
|
rs1840652151
|
|
NM_001032221.6(STXBP1):c.88-3C>T
|
rs1840652995
|
|
NM_001032221.6(STXBP1):c.889G>A (p.Ala297Thr)
|
rs1064794322
|
|
NM_001032221.6(STXBP1):c.902+6del
|
|
|
NM_001032221.6(STXBP1):c.902A>T (p.Gln301Leu)
|
rs1841388153
|
|
NM_001032221.6(STXBP1):c.903-12T>G
|
|
|
NM_001032221.6(STXBP1):c.935C>G (p.Ser312Cys)
|
|
|
NM_001032221.6(STXBP1):c.963G>A (p.Lys321=)
|
rs1554777932
|
|
NM_001032221.6(STXBP1):c.964A>G (p.Thr322Ala)
|
|
|
NM_001032221.6(STXBP1):c.973C>T (p.Arg325Trp)
|
|
|
NM_001032221.6(STXBP1):c.977A>T (p.Asp326Val)
|
|
|
NM_001032221.6(STXBP1):c.982T>A (p.Ser328Thr)
|
|
|
NM_003165.3(STXBP1):c.88-?_963+?dup
|
|
|
NM_003165.6(STXBP1):c.1711C>A (p.His571Asn)
|
|
|
NM_003165.6(STXBP1):c.1723C>T (p.Pro575Ser)
|
rs1842134181
|
|
NM_003165.6(STXBP1):c.1727C>T (p.Thr576Ile)
|
|
|
NM_003165.6(STXBP1):c.1736_1737delinsAA (p.Leu579Gln)
|
rs2131543105
|
|
NM_003165.6(STXBP1):c.1780T>C (p.Ser594Pro)
|
|
|
NM_003165.6(STXBP1):c.1783T>G (p.Phe595Val)
|
rs1318295744
|
|
NM_003165.6(STXBP1):c.1789G>A (p.Asp597Asn)
|
rs749807465
|
|
NM_003165.6(STXBP1):c.1811G>C (p.Ter604Ser)
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