ClinVar Miner

List of variants studied for Familial hemophagocytic lymphohistiocytosis 5 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 965
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) rs6791 0.67805
NM_006949.4(STXBP2):c.1356+18A>G rs889187 0.44557
NM_006949.4(STXBP2):c.1443T>C (p.Asp481=) rs10001 0.43223
NM_006949.4(STXBP2):c.38-7C>T rs8104339 0.42983
NM_006949.4(STXBP2):c.1696+20A>G rs2303113 0.08971
NM_006949.4(STXBP2):c.1247-10C>T rs61407177 0.04087
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070 0.01200
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_006949.4(STXBP2):c.849G>A (p.Glu283=) rs34450592 0.00997
NM_006949.4(STXBP2):c.169+12C>T rs115239774 0.00930
NM_006949.4(STXBP2):c.1590G>A (p.Ala530=) rs61736589 0.00904
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_006949.4(STXBP2):c.609C>T (p.His203=) rs113694233 0.00367
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) rs144914451 0.00229
NM_006949.4(STXBP2):c.1538+10C>T rs139200597 0.00210
NM_006949.4(STXBP2):c.1459G>A (p.Val487Met) rs150174842 0.00195
NM_006949.4(STXBP2):c.495C>T (p.Arg165=) rs2303116 0.00164
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) rs146425381 0.00142
NM_006949.4(STXBP2):c.246+18C>T rs201657700 0.00133
NM_006949.4(STXBP2):c.960+18T>A rs200402185 0.00101
NM_006949.4(STXBP2):c.822G>A (p.Ala274=) rs138099253 0.00090
NM_006949.4(STXBP2):c.846C>T (p.Asp282=) rs143108973 0.00080
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_006949.4(STXBP2):c.816C>T (p.Ser272=) rs78010345 0.00053
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_006949.4(STXBP2):c.185A>G (p.Asn62Ser) rs540968221 0.00040
NM_006949.4(STXBP2):c.1286C>T (p.Ala429Val) rs199924392 0.00036
NM_006949.4(STXBP2):c.1772C>A (p.Ala591Asp) rs150701487 0.00032
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met) rs181216956 0.00031
NM_006949.4(STXBP2):c.1128C>T (p.Asp376=) rs201407516 0.00029
NM_006949.4(STXBP2):c.578+12A>C rs1245371852 0.00029
NM_006949.4(STXBP2):c.1357-13G>A rs370994106 0.00027
NM_006949.4(STXBP2):c.285G>A (p.Pro95=) rs150567570 0.00025
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_006949.4(STXBP2):c.167C>T (p.Thr56Ile) rs138007892 0.00024
NM_006949.4(STXBP2):c.1396A>T (p.Met466Leu) rs146685108 0.00021
NM_006949.4(STXBP2):c.366T>C (p.Arg122=) rs1375830574 0.00021
NM_006949.4(STXBP2):c.387G>A (p.Thr129=) rs369507304 0.00021
NM_006949.4(STXBP2):c.988C>T (p.Leu330=) rs377258419 0.00021
NM_006949.4(STXBP2):c.1246+8G>A rs371596126 0.00017
NM_006949.4(STXBP2):c.1027-10C>T rs201961771 0.00016
NM_006949.4(STXBP2):c.1403C>T (p.Pro468Leu) rs572516987 0.00016
NM_006949.4(STXBP2):c.1530C>T (p.Ala510=) rs755717157 0.00016
NM_006949.4(STXBP2):c.1759C>G (p.Leu587Val) rs756684008 0.00016
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met) rs201293382 0.00016
NM_006949.4(STXBP2):c.1431G>A (p.Pro477=) rs137978942 0.00015
NM_006949.4(STXBP2):c.561G>A (p.Pro187=) rs535372251 0.00015
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly) rs370890802 0.00015
NM_006949.4(STXBP2):c.1204G>A (p.Asp402Asn) rs114628602 0.00014
NM_006949.4(STXBP2):c.38-17C>T rs201996502 0.00014
NM_006949.4(STXBP2):c.717C>T (p.Pro239=) rs367755105 0.00014
NM_006949.4(STXBP2):c.1458C>T (p.Ala486=) rs140877133 0.00013
NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys) rs542557411 0.00012
NM_006949.4(STXBP2):c.960+11del rs777484527 0.00012
NM_006949.4(STXBP2):c.1268C>A (p.Ala423Asp) rs150072458 0.00011
NM_006949.4(STXBP2):c.1356+13C>T rs544312114 0.00011
NM_006949.4(STXBP2):c.312C>T (p.Ile104=) rs149590619 0.00011
NM_006949.4(STXBP2):c.661G>A (p.Glu221Lys) rs201649843 0.00011
NM_006949.4(STXBP2):c.902+20G>A rs779607080 0.00011
NM_006949.4(STXBP2):c.903-18G>A rs202217724 0.00010
NM_006949.4(STXBP2):c.1682G>C (p.Trp561Ser) rs537825002 0.00009
NM_006949.4(STXBP2):c.1723C>T (p.Arg575Cys) rs201481880 0.00009
NM_006949.4(STXBP2):c.36A>G (p.Glu12=) rs765466426 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_006949.4(STXBP2):c.663+11G>A rs199892437 0.00009
NM_006949.4(STXBP2):c.820G>T (p.Ala274Ser) rs199971069 0.00009
NM_006949.4(STXBP2):c.1136G>A (p.Gly379Glu) rs778792433 0.00008
NM_006949.4(STXBP2):c.1354G>A (p.Gly452Arg) rs148777693 0.00008
NM_006949.4(STXBP2):c.1761G>A (p.Leu587=) rs532356732 0.00008
NM_006949.4(STXBP2):c.333C>T (p.Pro111=) rs144233139 0.00008
NM_006949.4(STXBP2):c.672G>A (p.Glu224=) rs371258399 0.00008
NM_006949.4(STXBP2):c.911C>T (p.Thr304Met) rs200135215 0.00008
NM_006949.4(STXBP2):c.1681T>C (p.Trp561Arg) rs202167383 0.00007
NM_006949.4(STXBP2):c.170-12T>C rs764720379 0.00007
NM_006949.4(STXBP2):c.1186G>A (p.Ala396Thr) rs768077536 0.00006
NM_006949.4(STXBP2):c.1356+14G>A rs373620307 0.00006
NM_006949.4(STXBP2):c.1453-5G>A rs113332946 0.00006
NM_006949.4(STXBP2):c.1453-8G>A rs1452988617 0.00006
NM_006949.4(STXBP2):c.1531G>A (p.Ala511Thr) rs138581300 0.00006
NM_006949.4(STXBP2):c.1647C>T (p.Ala549=) rs763651051 0.00006
NM_006949.4(STXBP2):c.336G>T (p.Glu112Asp) rs751965889 0.00006
NM_006949.4(STXBP2):c.494G>A (p.Arg165His) rs747969201 0.00006
NM_006949.4(STXBP2):c.499C>T (p.Arg167Trp) rs768296460 0.00006
NM_006949.4(STXBP2):c.503A>G (p.Gln168Arg) rs369683019 0.00006
NM_006949.4(STXBP2):c.514C>G (p.Leu172Val) rs905210837 0.00006
NM_006949.4(STXBP2):c.641C>T (p.Ala214Val) rs746329841 0.00006
NM_006949.4(STXBP2):c.744G>A (p.Thr248=) rs150126189 0.00006
NM_006949.4(STXBP2):c.1002G>A (p.Pro334=) rs770925163 0.00005
NM_006949.4(STXBP2):c.1356+5G>A rs748635794 0.00005
NM_006949.4(STXBP2):c.1376G>A (p.Arg459Gln) rs201164454 0.00005
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=) rs773575515 0.00005
NM_006949.4(STXBP2):c.1597C>T (p.Arg533Trp) rs747482928 0.00005
NM_006949.4(STXBP2):c.240G>A (p.Thr80=) rs372370815 0.00005
NM_006949.4(STXBP2):c.334G>A (p.Glu112Lys) rs368824770 0.00005
NM_006949.4(STXBP2):c.759G>A (p.Ala253=) rs145260482 0.00005
NM_006949.4(STXBP2):c.902+19C>T rs200887480 0.00005
NM_006949.4(STXBP2):c.960+9G>A rs371345040 0.00005
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_006949.4(STXBP2):c.1065G>A (p.Lys355=) rs756291718 0.00004
NM_006949.4(STXBP2):c.1068C>T (p.His356=) rs376159991 0.00004
NM_006949.4(STXBP2):c.1184A>G (p.Asp395Gly) rs751931943 0.00004
NM_006949.4(STXBP2):c.1188G>A (p.Ala396=) rs371355447 0.00004
NM_006949.4(STXBP2):c.1356+4C>T rs369000333 0.00004
NM_006949.4(STXBP2):c.1386G>A (p.Pro462=) rs778481780 0.00004
NM_006949.4(STXBP2):c.1452+7G>T rs746604591 0.00004
NM_006949.4(STXBP2):c.1453-6C>T rs200538123 0.00004
NM_006949.4(STXBP2):c.1456G>A (p.Ala486Thr) rs199839827 0.00004
NM_006949.4(STXBP2):c.1548C>T (p.Phe516=) rs201641708 0.00004
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=) rs750599225 0.00004
NM_006949.4(STXBP2):c.1672G>A (p.Glu558Lys) rs758554274 0.00004
NM_006949.4(STXBP2):c.169+10C>G rs187240521 0.00004
NM_006949.4(STXBP2):c.1719G>A (p.Pro573=) rs377263310 0.00004
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln) rs141717050 0.00004
NM_006949.4(STXBP2):c.275A>T (p.Gln92Leu) rs779265777 0.00004
NM_006949.4(STXBP2):c.27G>C (p.Val9=) rs969393527 0.00004
NM_006949.4(STXBP2):c.358C>T (p.Arg120Cys) rs140745219 0.00004
NM_006949.4(STXBP2):c.507C>G (p.Leu169=) rs373301117 0.00004
NM_006949.4(STXBP2):c.541G>A (p.Ala181Thr) rs1338883281 0.00004
NM_006949.4(STXBP2):c.603G>T (p.Leu201Phe) rs188212047 0.00004
NM_006949.4(STXBP2):c.610G>A (p.Ala204Thr) rs373450263 0.00004
NM_006949.4(STXBP2):c.612C>T (p.Ala204=) rs113033216 0.00004
NM_006949.4(STXBP2):c.663+10C>T rs375337142 0.00004
NM_006949.4(STXBP2):c.747C>T (p.Phe249=) rs772393674 0.00004
NM_006949.4(STXBP2):c.1026+3G>A rs759183489 0.00003
NM_006949.4(STXBP2):c.1108-5C>T rs200577190 0.00003
NM_006949.4(STXBP2):c.116G>A (p.Arg39His) rs200306463 0.00003
NM_006949.4(STXBP2):c.1173G>A (p.Pro391=) rs201135827 0.00003
NM_006949.4(STXBP2):c.1185C>T (p.Asp395=) rs759967009 0.00003
NM_006949.4(STXBP2):c.1203C>T (p.Tyr401=) rs373267410 0.00003
NM_006949.4(STXBP2):c.1263C>T (p.Asn421=) rs772865803 0.00003
NM_006949.4(STXBP2):c.1353C>T (p.Pro451=) rs376551499 0.00003
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=) rs980486322 0.00003
NM_006949.4(STXBP2):c.1374C>T (p.Ser458=) rs1265788012 0.00003
NM_006949.4(STXBP2):c.1420C>T (p.Arg474Cys) rs759586229 0.00003
NM_006949.4(STXBP2):c.1453-10C>T rs368488488 0.00003
NM_006949.4(STXBP2):c.1453-9G>A rs372742473 0.00003
NM_006949.4(STXBP2):c.1500C>T (p.Ser500=) rs368696592 0.00003
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=) rs374131788 0.00003
NM_006949.4(STXBP2):c.234C>T (p.Ser78=) rs1481967878 0.00003
NM_006949.4(STXBP2):c.321C>T (p.Thr107=) rs886054703 0.00003
NM_006949.4(STXBP2):c.364C>T (p.Arg122Cys) rs371725400 0.00003
NM_006949.4(STXBP2):c.429+3_429+9dup rs747472367 0.00003
NM_006949.4(STXBP2):c.48C>T (p.Ser16=) rs138548712 0.00003
NM_006949.4(STXBP2):c.533C>T (p.Thr178Met) rs762234445 0.00003
NM_006949.4(STXBP2):c.579-4C>T rs575135858 0.00003
NM_006949.4(STXBP2):c.680G>A (p.Arg227His) rs200855062 0.00003
NM_006949.4(STXBP2):c.808G>T (p.Gly270Trp) rs187320742 0.00003
NM_006949.4(STXBP2):c.824G>A (p.Arg275Gln) rs149111957 0.00003
NM_006949.4(STXBP2):c.835G>A (p.Val279Ile) rs753242709 0.00003
NM_006949.4(STXBP2):c.847G>A (p.Glu283Lys) rs778489407 0.00003
NM_006949.4(STXBP2):c.869A>G (p.Glu290Gly) rs1353855735 0.00003
NM_006949.4(STXBP2):c.981C>A (p.Ser327=) rs755154858 0.00003
NM_006949.4(STXBP2):c.1026+9G>A rs201365133 0.00002
NM_006949.4(STXBP2):c.1027-3C>T rs760320854 0.00002
NM_006949.4(STXBP2):c.1079C>T (p.Ser360Leu) rs779452337 0.00002
NM_006949.4(STXBP2):c.1107+16C>T rs769535445 0.00002
NM_006949.4(STXBP2):c.1108-4G>A rs1175745070 0.00002
NM_006949.4(STXBP2):c.1190C>T (p.Ala397Val) rs1309026455 0.00002
NM_006949.4(STXBP2):c.1213C>T (p.Arg405Trp) rs769717341 0.00002
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) rs773360200 0.00002
NM_006949.4(STXBP2):c.1246+16A>G rs756857906 0.00002
NM_006949.4(STXBP2):c.1247-9G>A rs375777278 0.00002
NM_006949.4(STXBP2):c.1290T>C (p.Asn430=) rs372890572 0.00002
NM_006949.4(STXBP2):c.1419C>T (p.Ser473=) rs774480794 0.00002
NM_006949.4(STXBP2):c.1468C>T (p.Arg490Trp) rs754527648 0.00002
NM_006949.4(STXBP2):c.1598G>A (p.Arg533Gln) rs147455069 0.00002
NM_006949.4(STXBP2):c.1653C>T (p.Tyr551=) rs767500700 0.00002
NM_006949.4(STXBP2):c.1662C>T (p.Thr554=) rs1423929519 0.00002
NM_006949.4(STXBP2):c.169+13G>A rs758194101 0.00002
NM_006949.4(STXBP2):c.1692C>T (p.Leu564=) rs899199010 0.00002
NM_006949.4(STXBP2):c.1742A>G (p.Lys581Arg) rs955110475 0.00002
NM_006949.4(STXBP2):c.205C>G (p.Pro69Ala) rs532380776 0.00002
NM_006949.4(STXBP2):c.247-14T>A rs751543240 0.00002
NM_006949.4(STXBP2):c.303G>A (p.Ala101=) rs766198135 0.00002
NM_006949.4(STXBP2):c.325+9G>A rs555724573 0.00002
NM_006949.4(STXBP2):c.326-11C>T rs759396575 0.00002
NM_006949.4(STXBP2):c.417C>G (p.Pro139=) rs756584035 0.00002
NM_006949.4(STXBP2):c.429+4C>T rs756813344 0.00002
NM_006949.4(STXBP2):c.441C>T (p.Leu147=) rs749948057 0.00002
NM_006949.4(STXBP2):c.579-20G>A rs564536916 0.00002
NM_006949.4(STXBP2):c.579-5G>A rs770074311 0.00002
NM_006949.4(STXBP2):c.650C>G (p.Pro217Arg) rs1243481529 0.00002
NM_006949.4(STXBP2):c.902+12C>T rs1473496130 0.00002
NM_006949.4(STXBP2):c.902+5G>A rs768725365 0.00002
NM_006949.4(STXBP2):c.954G>A (p.Thr318=) rs367553126 0.00002
NM_006949.4(STXBP2):c.960+6G>T rs772589071 0.00002
NM_006949.4(STXBP2):c.97A>G (p.Met33Val) rs769918010 0.00002
NM_006949.4(STXBP2):c.1024A>G (p.Lys342Glu) rs773931525 0.00001
NM_006949.4(STXBP2):c.1026+16C>T rs1455244038 0.00001
NM_006949.4(STXBP2):c.1026+17A>G rs1171346483 0.00001
NM_006949.4(STXBP2):c.1026+8C>T rs775248878 0.00001
NM_006949.4(STXBP2):c.1027-19C>T rs749674004 0.00001
NM_006949.4(STXBP2):c.1037A>T (p.His346Leu) rs765133484 0.00001
NM_006949.4(STXBP2):c.1067A>G (p.His356Arg) rs764476944 0.00001
NM_006949.4(STXBP2):c.106C>T (p.Pro36Ser) rs773397741 0.00001
NM_006949.4(STXBP2):c.107C>G (p.Pro36Arg) rs763199081 0.00001
NM_006949.4(STXBP2):c.1080G>A (p.Ser360=) rs746338532 0.00001
NM_006949.4(STXBP2):c.1108-10A>G rs765625177 0.00001
NM_006949.4(STXBP2):c.1108-18C>A rs762061676 0.00001
NM_006949.4(STXBP2):c.1125C>T (p.Ser375=) rs147282248 0.00001
NM_006949.4(STXBP2):c.1135G>T (p.Gly379Trp) rs757979426 0.00001
NM_006949.4(STXBP2):c.1152C>T (p.Asp384=) rs1002500717 0.00001
NM_006949.4(STXBP2):c.1189G>A (p.Ala397Thr) rs1295937505 0.00001
NM_006949.4(STXBP2):c.1197C>T (p.Pro399=) rs756948868 0.00001
NM_006949.4(STXBP2):c.1198G>A (p.Ala400Thr) rs778507837 0.00001
NM_006949.4(STXBP2):c.1210A>G (p.Ile404Val) rs748212253 0.00001
NM_006949.4(STXBP2):c.1225C>T (p.Leu409Phe) rs763024326 0.00001
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=) rs771186417 0.00001
NM_006949.4(STXBP2):c.1240C>T (p.Arg414Trp) rs113305305 0.00001
NM_006949.4(STXBP2):c.1241G>A (p.Arg414Gln) rs202199284 0.00001
NM_006949.4(STXBP2):c.1246+18G>A rs1289146267 0.00001
NM_006949.4(STXBP2):c.1246+4G>A rs111543394 0.00001
NM_006949.4(STXBP2):c.1253G>A (p.Ser418Asn) rs991821954 0.00001
NM_006949.4(STXBP2):c.1264C>T (p.Leu422=) rs1022914979 0.00001
NM_006949.4(STXBP2):c.1266G>A (p.Leu422=) rs1357825251 0.00001
NM_006949.4(STXBP2):c.1273C>T (p.Leu425=) rs766203399 0.00001
NM_006949.4(STXBP2):c.1289A>G (p.Asn430Ser) rs759426286 0.00001
NM_006949.4(STXBP2):c.1299G>A (p.Ala433=) rs542699433 0.00001
NM_006949.4(STXBP2):c.1361C>T (p.Ser454Leu) rs755227395 0.00001
NM_006949.4(STXBP2):c.1370C>G (p.Ser457Cys) rs767692438 0.00001
NM_006949.4(STXBP2):c.1385C>T (p.Pro462Leu) rs573587268 0.00001
NM_006949.4(STXBP2):c.1394G>A (p.Arg465His) rs771732155 0.00001
NM_006949.4(STXBP2):c.1412A>G (p.Gln471Arg) rs1040196718 0.00001
NM_006949.4(STXBP2):c.1423T>C (p.Trp475Arg) rs752928582 0.00001
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) rs121918540 0.00001
NM_006949.4(STXBP2):c.1446A>C (p.Val482=) rs1267281446 0.00001
NM_006949.4(STXBP2):c.1452+17C>T rs866689666 0.00001
NM_006949.4(STXBP2):c.1452+8G>A rs1206831715 0.00001
NM_006949.4(STXBP2):c.1453G>A (p.Asp485Asn) rs1279177809 0.00001
NM_006949.4(STXBP2):c.1469G>A (p.Arg490Gln) rs189009033 0.00001
NM_006949.4(STXBP2):c.1481A>C (p.Asn494Thr) rs1197928359 0.00001
NM_006949.4(STXBP2):c.1484T>G (p.Leu495Arg) rs777364957 0.00001
NM_006949.4(STXBP2):c.1490C>A (p.Pro497His) rs749174262 0.00001
NM_006949.4(STXBP2):c.1494C>T (p.Phe498=) rs779034135 0.00001
NM_006949.4(STXBP2):c.1501G>A (p.Asp501Asn) rs776782833 0.00001
NM_006949.4(STXBP2):c.1515G>T (p.Thr505=) rs369399945 0.00001
NM_006949.4(STXBP2):c.1525C>G (p.Gln509Glu) rs760061071 0.00001
NM_006949.4(STXBP2):c.1535T>G (p.Val512Gly) rs1241981409 0.00001
NM_006949.4(STXBP2):c.1538+16C>T rs769882636 0.00001
NM_006949.4(STXBP2):c.1538+17G>A rs886038579 0.00001
NM_006949.4(STXBP2):c.1539-5C>A rs772438137 0.00001
NM_006949.4(STXBP2):c.1549G>A (p.Gly517Ser) rs200026300 0.00001
NM_006949.4(STXBP2):c.1585C>T (p.Arg529Trp) rs766121039 0.00001
NM_006949.4(STXBP2):c.1592G>C (p.Gly531Ala) rs746118454 0.00001
NM_006949.4(STXBP2):c.1605C>T (p.Ile535=) rs554112164 0.00001
NM_006949.4(STXBP2):c.1606G>A (p.Val536Met) rs374719886 0.00001
NM_006949.4(STXBP2):c.1648G>A (p.Ala550Thr) rs759514227 0.00001
NM_006949.4(STXBP2):c.169+11G>C rs756350869 0.00001
NM_006949.4(STXBP2):c.1694T>C (p.Ile565Thr) rs2032186554 0.00001
NM_006949.4(STXBP2):c.1697-9C>T rs777335531 0.00001
NM_006949.4(STXBP2):c.1701C>T (p.Ser567=) rs775267116 0.00001
NM_006949.4(STXBP2):c.1718C>T (p.Pro573Leu) rs768637937 0.00001
NM_006949.4(STXBP2):c.1732G>A (p.Asp578Asn) rs1187716105 0.00001
NM_006949.4(STXBP2):c.1762G>T (p.Glu588Ter) rs1268122676 0.00001
NM_006949.4(STXBP2):c.1769T>C (p.Ile590Thr) rs745455637 0.00001
NM_006949.4(STXBP2):c.178G>A (p.Asp60Asn) rs2031710370 0.00001
NM_006949.4(STXBP2):c.190C>T (p.Arg64Trp) rs764937841 0.00001
NM_006949.4(STXBP2):c.242A>G (p.Glu81Gly) rs779176001 0.00001
NM_006949.4(STXBP2):c.246+17G>A rs761135377 0.00001
NM_006949.4(STXBP2):c.246+5C>G rs369629603 0.00001
NM_006949.4(STXBP2):c.291C>A (p.Phe97Leu) rs1246771714 0.00001
NM_006949.4(STXBP2):c.294C>T (p.Thr98=) rs764792238 0.00001
NM_006949.4(STXBP2):c.326-5C>G rs752733296 0.00001
NM_006949.4(STXBP2):c.330C>T (p.Cys110=) rs1032960984 0.00001
NM_006949.4(STXBP2):c.359G>A (p.Arg120His) rs777213175 0.00001
NM_006949.4(STXBP2):c.379G>A (p.Val127Met) rs764141843 0.00001
NM_006949.4(STXBP2):c.38-18C>T rs547035697 0.00001
NM_006949.4(STXBP2):c.403C>T (p.Leu135Phe) rs766694710 0.00001
NM_006949.4(STXBP2):c.408C>T (p.Ala136=) rs751879629 0.00001
NM_006949.4(STXBP2):c.413T>A (p.Leu138His) rs1185698344 0.00001
NM_006949.4(STXBP2):c.420C>T (p.Tyr140=) rs373462454 0.00001
NM_006949.4(STXBP2):c.429+10G>A rs771645875 0.00001
NM_006949.4(STXBP2):c.430-12C>T rs1050331269 0.00001
NM_006949.4(STXBP2):c.430-6G>A rs984557811 0.00001
NM_006949.4(STXBP2):c.453C>T (p.His151=) rs1719856733 0.00001
NM_006949.4(STXBP2):c.455G>A (p.Ser152Asn) rs757901890 0.00001
NM_006949.4(STXBP2):c.470A>C (p.Tyr157Ser) rs779731433 0.00001
NM_006949.4(STXBP2):c.481C>T (p.Arg161Trp) rs1274431087 0.00001
NM_006949.4(STXBP2):c.482G>A (p.Arg161Gln) rs1365793463 0.00001
NM_006949.4(STXBP2):c.500G>C (p.Arg167Pro) rs949311854 0.00001
NM_006949.4(STXBP2):c.508G>A (p.Glu170Lys) rs760837844 0.00001
NM_006949.4(STXBP2):c.546C>G (p.Thr182=) rs1391595886 0.00001
NM_006949.4(STXBP2):c.575G>A (p.Arg192His) rs113860815 0.00001
NM_006949.4(STXBP2):c.578+8C>A rs1473440853 0.00001
NM_006949.4(STXBP2):c.578+9C>A rs755913665 0.00001
NM_006949.4(STXBP2):c.622A>C (p.Lys208Gln) rs1015967474 0.00001
NM_006949.4(STXBP2):c.630C>T (p.Asn210=) rs201691423 0.00001
NM_006949.4(STXBP2):c.631G>A (p.Ala211Thr) rs774890011 0.00001
NM_006949.4(STXBP2):c.647C>A (p.Thr216Asn) rs776842309 0.00001
NM_006949.4(STXBP2):c.649C>T (p.Pro217Ser) rs1249890410 0.00001
NM_006949.4(STXBP2):c.658G>A (p.Gly220Ser) rs1414767497 0.00001
NM_006949.4(STXBP2):c.664-19G>A rs374566216 0.00001
NM_006949.4(STXBP2):c.664-20T>C rs1257162911 0.00001
NM_006949.4(STXBP2):c.664-6C>A rs1342749941 0.00001
NM_006949.4(STXBP2):c.679C>T (p.Arg227Cys) rs372973081 0.00001
NM_006949.4(STXBP2):c.694A>T (p.Ile232Leu) rs760638875 0.00001
NM_006949.4(STXBP2):c.704G>A (p.Arg235Gln) rs757488006 0.00001
NM_006949.4(STXBP2):c.715C>T (p.Pro239Ser) rs1418225393 0.00001
NM_006949.4(STXBP2):c.72G>C (p.Lys24Asn) rs763288117 0.00001
NM_006949.4(STXBP2):c.743C>T (p.Thr248Met) rs747513823 0.00001
NM_006949.4(STXBP2):c.750G>A (p.Gln250=) rs146658708 0.00001
NM_006949.4(STXBP2):c.776T>C (p.Ile259Thr) rs764336756 0.00001
NM_006949.4(STXBP2):c.784G>A (p.Asp262Asn) rs749059785 0.00001
NM_006949.4(STXBP2):c.788C>T (p.Thr263Ile) rs970906050 0.00001
NM_006949.4(STXBP2):c.789A>G (p.Thr263=) rs371540379 0.00001
NM_006949.4(STXBP2):c.794+20G>A rs762046938 0.00001
NM_006949.4(STXBP2):c.795-16C>T rs1189996144 0.00001
NM_006949.4(STXBP2):c.795-19C>G rs777370766 0.00001
NM_006949.4(STXBP2):c.797A>G (p.Tyr266Cys) rs774131697 0.00001
NM_006949.4(STXBP2):c.799G>A (p.Glu267Lys) rs745716844 0.00001
NM_006949.4(STXBP2):c.79G>C (p.Glu27Gln) rs796488505 0.00001
NM_006949.4(STXBP2):c.817G>A (p.Glu273Lys) rs765370350 0.00001
NM_006949.4(STXBP2):c.842T>C (p.Leu281Pro) rs748802312 0.00001
NM_006949.4(STXBP2):c.87+3del rs771510137 0.00001
NM_006949.4(STXBP2):c.875G>A (p.Arg292His) rs746897867 0.00001
NM_006949.4(STXBP2):c.879C>T (p.His293=) rs1237529379 0.00001
NM_006949.4(STXBP2):c.88-11C>T rs1355022750 0.00001
NM_006949.4(STXBP2):c.888C>T (p.Ile296=) rs1350527680 0.00001
NM_006949.4(STXBP2):c.902+17A>G rs2031935447 0.00001
NM_006949.4(STXBP2):c.902+4C>T rs1349313045 0.00001
NM_006949.4(STXBP2):c.903-19C>T rs762417426 0.00001
NM_006949.4(STXBP2):c.912G>A (p.Thr304=) rs781242568 0.00001
NM_006949.4(STXBP2):c.938G>A (p.Ser313Asn) rs775739579 0.00001
NM_006949.4(STXBP2):c.939C>A (p.Ser313Arg) rs2031948474 0.00001
NM_006949.4(STXBP2):c.943A>G (p.Arg315Gly) rs747344322 0.00001
NM_006949.4(STXBP2):c.960+14C>G rs1322085165 0.00001
NM_006949.4(STXBP2):c.960+15A>C rs766105847 0.00001
NM_006949.4(STXBP2):c.962C>T (p.Ala321Val) rs753737127 0.00001
NC_000019.9:g.(?_7587617)_(8373194_?)dup
NC_000019.9:g.(?_7694720)_(7712696_?)del
NC_000019.9:g.(?_7694720)_(7712696_?)dup
NC_000019.9:g.(?_7702016)_(7712716_?)dup
NC_000019.9:g.(?_7703306)_(7707110_?)del
NC_000019.9:g.(?_7706571)_(7712696_?)del
NC_000019.9:g.(?_7709480)_(7712696_?)del
NM_006949.4(STXBP2):c.1003C>T (p.Gln335Ter)
NM_006949.4(STXBP2):c.1004A>G (p.Gln335Arg)
NM_006949.4(STXBP2):c.1008C>G (p.Tyr336Ter)
NM_006949.4(STXBP2):c.1009C>T (p.Gln337Ter)
NM_006949.4(STXBP2):c.1017G>A (p.Glu339=)
NM_006949.4(STXBP2):c.1020G>A (p.Leu340=)
NM_006949.4(STXBP2):c.1026+11G>A
NM_006949.4(STXBP2):c.1026+15G>T
NM_006949.4(STXBP2):c.1026+17A>C rs1171346483
NM_006949.4(STXBP2):c.1026+18G>A
NM_006949.4(STXBP2):c.1026+1G>T
NM_006949.4(STXBP2):c.1026+2T>A
NM_006949.4(STXBP2):c.1026+8C>G
NM_006949.4(STXBP2):c.1027-11G>T
NM_006949.4(STXBP2):c.1027-12T>C rs2146220992
NM_006949.4(STXBP2):c.1027-14C>T
NM_006949.4(STXBP2):c.1027-15C>T
NM_006949.4(STXBP2):c.1027-17C>A
NM_006949.4(STXBP2):c.1027-17CACCCTG[3] rs776600326
NM_006949.4(STXBP2):c.1027-4G>T
NM_006949.4(STXBP2):c.1027-7C>T
NM_006949.4(STXBP2):c.1027-8C>T
NM_006949.4(STXBP2):c.1033A>T (p.Thr345Ser)
NM_006949.4(STXBP2):c.1035G>A (p.Thr345=)
NM_006949.4(STXBP2):c.1035G>T (p.Thr345=)
NM_006949.4(STXBP2):c.1047A>C (p.Leu349=)
NM_006949.4(STXBP2):c.1049C>T (p.Ala350Val)
NM_006949.4(STXBP2):c.1050A>G (p.Ala350=)
NM_006949.4(STXBP2):c.1053T>C (p.Asp351=)
NM_006949.4(STXBP2):c.1059T>G (p.Cys353Trp) rs1234333766
NM_006949.4(STXBP2):c.1062G>A (p.Met354Ile) rs752730714
NM_006949.4(STXBP2):c.1064A>T (p.Lys355Met) rs2031967645
NM_006949.4(STXBP2):c.1072A>G (p.Lys358Glu) rs2031968427
NM_006949.4(STXBP2):c.1073A>G (p.Lys358Arg)
NM_006949.4(STXBP2):c.1080G>C (p.Ser360=)
NM_006949.4(STXBP2):c.1089G>C (p.Lys363Asn) rs2031969287
NM_006949.4(STXBP2):c.1092G>A (p.Leu364=)
NM_006949.4(STXBP2):c.1092G>C (p.Leu364=)
NM_006949.4(STXBP2):c.1101G>A (p.Val367=)
NM_006949.4(STXBP2):c.1104G>A (p.Glu368=)
NM_006949.4(STXBP2):c.1107+12_1107+27del rs759584147
NM_006949.4(STXBP2):c.1107+15G>A rs747904049
NM_006949.4(STXBP2):c.1107+17G>A rs374453678
NM_006949.4(STXBP2):c.1107+17G>C
NM_006949.4(STXBP2):c.1107+17G>T
NM_006949.4(STXBP2):c.1107+18G>A
NM_006949.4(STXBP2):c.1107+1G>C
NM_006949.4(STXBP2):c.1107+22del
NM_006949.4(STXBP2):c.1107+3G>A
NM_006949.4(STXBP2):c.1107+6G>C
NM_006949.4(STXBP2):c.1107+9G>C rs370755022
NM_006949.4(STXBP2):c.1108-11C>T
NM_006949.4(STXBP2):c.1108-12C>T
NM_006949.4(STXBP2):c.1108-13C>G
NM_006949.4(STXBP2):c.1108-14C>A rs1314091539
NM_006949.4(STXBP2):c.1108-14C>T
NM_006949.4(STXBP2):c.1108-16G>A
NM_006949.4(STXBP2):c.1108-19G>T
NM_006949.4(STXBP2):c.1108-1G>A
NM_006949.4(STXBP2):c.1108-3C>T rs1475882314
NM_006949.4(STXBP2):c.1108-4G>T
NM_006949.4(STXBP2):c.1108-8G>A rs1363310511
NM_006949.4(STXBP2):c.1108-9T>C rs2146226188
NM_006949.4(STXBP2):c.1111C>T (p.Leu371=)
NM_006949.4(STXBP2):c.1114G>C (p.Ala372Pro)
NM_006949.4(STXBP2):c.1116dup (p.Met373fs)
NM_006949.4(STXBP2):c.1117A>G (p.Met373Val)
NM_006949.4(STXBP2):c.1121G>A (p.Gly374Asp)
NM_006949.4(STXBP2):c.1122C>T (p.Gly374=) rs2146226286
NM_006949.4(STXBP2):c.1129G>A (p.Ala377Thr)
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=) rs755758613
NM_006949.4(STXBP2):c.1134G>C (p.Glu378Asp) rs755758613
NM_006949.4(STXBP2):c.1135G>A (p.Gly379Arg)
NM_006949.4(STXBP2):c.1135G>C (p.Gly379Arg)
NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)
NM_006949.4(STXBP2):c.1140G>A (p.Glu380=) rs2146226397
NM_006949.4(STXBP2):c.1143G>A (p.Lys381=)
NM_006949.4(STXBP2):c.1149G>A (p.Lys383=)
NM_006949.4(STXBP2):c.1156A>C (p.Met386Leu) rs535236814
NM_006949.4(STXBP2):c.1156A>G (p.Met386Val) rs535236814
NM_006949.4(STXBP2):c.1158G>T (p.Met386Ile) rs2146226431
NM_006949.4(STXBP2):c.115C>T (p.Arg39Cys) rs199579207
NM_006949.4(STXBP2):c.1167C>A (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1168G>A (p.Val390Ile)
NM_006949.4(STXBP2):c.1169T>C (p.Val390Ala) rs1599403453
NM_006949.4(STXBP2):c.1170T>C (p.Val390=)
NM_006949.4(STXBP2):c.1171C>G (p.Pro391Ala)
NM_006949.4(STXBP2):c.1172C>A (p.Pro391Gln) rs539611010
NM_006949.4(STXBP2):c.1177C>T (p.Leu393=)
NM_006949.4(STXBP2):c.1188G>C (p.Ala396=)
NM_006949.4(STXBP2):c.1197C>G (p.Pro399=)
NM_006949.4(STXBP2):c.1200C>T (p.Ala400=)
NM_006949.4(STXBP2):c.1206C>T (p.Asp402=) rs2146226616
NM_006949.4(STXBP2):c.1207_1208del (p.Lys403fs)
NM_006949.4(STXBP2):c.1212C>T (p.Ile404=)
NM_006949.4(STXBP2):c.1214G>C (p.Arg405Pro)
NM_006949.4(STXBP2):c.1215G>T (p.Arg405=)
NM_006949.4(STXBP2):c.1218C>T (p.Val406=)
NM_006949.4(STXBP2):c.1224G>C (p.Leu408=)
NM_006949.4(STXBP2):c.1242G>C (p.Arg414=)
NM_006949.4(STXBP2):c.1245T>C (p.Asn415=)
NM_006949.4(STXBP2):c.1246+11G>C
NM_006949.4(STXBP2):c.1246+11del
NM_006949.4(STXBP2):c.1246+14G>T
NM_006949.4(STXBP2):c.1246+20A>T
NM_006949.4(STXBP2):c.1247-11C>T
NM_006949.4(STXBP2):c.1247-11_1247-9del
NM_006949.4(STXBP2):c.1247-18C>T
NM_006949.4(STXBP2):c.1247-19G>A
NM_006949.4(STXBP2):c.1247-7C>A
NM_006949.4(STXBP2):c.1247-9G>C
NM_006949.4(STXBP2):c.1254_1257del (p.Ser418fs)
NM_006949.4(STXBP2):c.1259A>G (p.Glu420Gly)
NM_006949.4(STXBP2):c.1260G>A (p.Glu420=)
NM_006949.4(STXBP2):c.1269C>G (p.Ala423=)
NM_006949.4(STXBP2):c.1273C>G (p.Leu425Val) rs766203399
NM_006949.4(STXBP2):c.1274T>C (p.Leu425Pro)
NM_006949.4(STXBP2):c.1278C>T (p.Ile426=) rs2032085173
NM_006949.4(STXBP2):c.1280A>C (p.Gln427Pro) rs2146228250
NM_006949.4(STXBP2):c.1281G>A (p.Gln427=)
NM_006949.4(STXBP2):c.1294C>T (p.Gln432Ter)
NM_006949.4(STXBP2):c.129C>G (p.Ser43=)
NM_006949.4(STXBP2):c.12G>C (p.Ser4=) rs1479557498
NM_006949.4(STXBP2):c.1316G>A (p.Arg439His) rs1415837581
NM_006949.4(STXBP2):c.1323G>A (p.Leu441=)
NM_006949.4(STXBP2):c.132C>A (p.Cys44Ter)
NM_006949.4(STXBP2):c.1330C>T (p.Leu444=) rs1283496609
NM_006949.4(STXBP2):c.1334G>T (p.Gly445Val) rs2032087931
NM_006949.4(STXBP2):c.1335A>T (p.Gly445=) rs2146228454
NM_006949.4(STXBP2):c.1339_1340insAAA (p.Gly446_Thr447insLys) rs2032088247
NM_006949.4(STXBP2):c.133T>C (p.Cys45Arg) rs2146206769
NM_006949.4(STXBP2):c.1341T>C (p.Thr447=)
NM_006949.4(STXBP2):c.1342_1346dup (p.Asn450fs)
NM_006949.4(STXBP2):c.1344C>T (p.Val448=)
NM_006949.4(STXBP2):c.134del (p.Cys45fs) rs1568463402
NM_006949.4(STXBP2):c.1353C>G (p.Pro451=)
NM_006949.4(STXBP2):c.1354G>C (p.Gly452Arg) rs148777693
NM_006949.4(STXBP2):c.1356+18A>C
NM_006949.4(STXBP2):c.1356+19T>C
NM_006949.4(STXBP2):c.1356+1G>T
NM_006949.4(STXBP2):c.1356+20G>C
NM_006949.4(STXBP2):c.1356+20G>T
NM_006949.4(STXBP2):c.1356+25del
NM_006949.4(STXBP2):c.1356+4C>A rs369000333
NM_006949.4(STXBP2):c.1357-12C>T rs761759282
NM_006949.4(STXBP2):c.1357-13G>T
NM_006949.4(STXBP2):c.1357-20C>T rs763985652
NM_006949.4(STXBP2):c.1357-4G>A
NM_006949.4(STXBP2):c.1357-4G>C rs1027722042
NM_006949.4(STXBP2):c.1357-6C>T
NM_006949.4(STXBP2):c.1357-7C>A
NM_006949.4(STXBP2):c.1363G>C (p.Gly455Arg)
NM_006949.4(STXBP2):c.1364_1377del (p.Gly455fs)
NM_006949.4(STXBP2):c.1373G>C (p.Ser458Thr)
NM_006949.4(STXBP2):c.137A>G (p.Lys46Arg) rs1358641526
NM_006949.4(STXBP2):c.1382del (p.Glu461fs)
NM_006949.4(STXBP2):c.1384C>G (p.Pro462Ala)
NM_006949.4(STXBP2):c.1386G>C (p.Pro462=)
NM_006949.4(STXBP2):c.1397T>C (p.Met466Thr)
NM_006949.4(STXBP2):c.139A>G (p.Met47Val)
NM_006949.4(STXBP2):c.1400A>G (p.Glu467Gly)
NM_006949.4(STXBP2):c.1416G>C (p.Leu472=)
NM_006949.4(STXBP2):c.1427C>T (p.Thr476Ile) rs2032136227
NM_006949.4(STXBP2):c.1428C>G (p.Thr476=) rs756428439
NM_006949.4(STXBP2):c.1428C>T (p.Thr476=)
NM_006949.4(STXBP2):c.1437C>T (p.Ile479=) rs1417576091
NM_006949.4(STXBP2):c.1441G>A (p.Asp481Asn) rs995965057
NM_006949.4(STXBP2):c.1443T>A (p.Asp481Glu)
NM_006949.4(STXBP2):c.1443_1444inv (p.Val482Ile)
NM_006949.4(STXBP2):c.1444G>A (p.Val482Ile)
NM_006949.4(STXBP2):c.1452+12C>T rs768298110
NM_006949.4(STXBP2):c.1452+13A>G
NM_006949.4(STXBP2):c.1452+18A>T
NM_006949.4(STXBP2):c.1452+1G>A
NM_006949.4(STXBP2):c.1453-10C>G
NM_006949.4(STXBP2):c.1453-12C>T
NM_006949.4(STXBP2):c.1453-15C>T
NM_006949.4(STXBP2):c.1453-19C>T
NM_006949.4(STXBP2):c.1453-8G>C rs1452988617
NM_006949.4(STXBP2):c.1453-9G>C
NM_006949.4(STXBP2):c.1455C>A (p.Asp485Glu) rs146425381
NM_006949.4(STXBP2):c.1458C>G (p.Ala486=)
NM_006949.4(STXBP2):c.1459G>T (p.Val487Leu) rs150174842
NM_006949.4(STXBP2):c.1464G>A (p.Glu488=)
NM_006949.4(STXBP2):c.1476C>T (p.Asp492=)
NM_006949.4(STXBP2):c.1491C>T (p.Pro497=) rs574613622
NM_006949.4(STXBP2):c.1495G>A (p.Val499Ile) rs377248327
NM_006949.4(STXBP2):c.1503C>A (p.Asp501Glu)
NM_006949.4(STXBP2):c.1507G>A (p.Ala503Thr) rs374882127
NM_006949.4(STXBP2):c.1507G>T (p.Ala503Ser) rs374882127
NM_006949.4(STXBP2):c.1508C>T (p.Ala503Val)
NM_006949.4(STXBP2):c.1512C>G (p.Pro504=)
NM_006949.4(STXBP2):c.1512C>T (p.Pro504=)
NM_006949.4(STXBP2):c.1514C>A (p.Thr505Lys)
NM_006949.4(STXBP2):c.1514C>G (p.Thr505Arg) rs375024471
NM_006949.4(STXBP2):c.1514C>T (p.Thr505Met) rs375024471
NM_006949.4(STXBP2):c.1515G>A (p.Thr505=) rs369399945
NM_006949.4(STXBP2):c.1524C>T (p.Ser508=)
NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter) rs760061071
NM_006949.4(STXBP2):c.1527G>A (p.Gln509=)
NM_006949.4(STXBP2):c.1530C>G (p.Ala510=) rs755717157
NM_006949.4(STXBP2):c.1531G>C (p.Ala511Pro) rs138581300
NM_006949.4(STXBP2):c.1538+10C>A
NM_006949.4(STXBP2):c.1538+10C>G rs139200597
NM_006949.4(STXBP2):c.1538+11G>A rs560026431
NM_006949.4(STXBP2):c.1538+11G>C rs560026431
NM_006949.4(STXBP2):c.1538+12G>C
NM_006949.4(STXBP2):c.1538+12G>T
NM_006949.4(STXBP2):c.1538+14G>A
NM_006949.4(STXBP2):c.1538+14del rs1430700652
NM_006949.4(STXBP2):c.1538+18C>G
NM_006949.4(STXBP2):c.1538+19C>T
NM_006949.4(STXBP2):c.1538+21_1538+26del
NM_006949.4(STXBP2):c.1538+22del
NM_006949.4(STXBP2):c.1538+6G>A
NM_006949.4(STXBP2):c.1538+7C>G
NM_006949.4(STXBP2):c.1538+9C>T
NM_006949.4(STXBP2):c.1539-11G>T
NM_006949.4(STXBP2):c.1539-14C>G rs2032178636
NM_006949.4(STXBP2):c.1539-15C>T
NM_006949.4(STXBP2):c.1539-16C>T
NM_006949.4(STXBP2):c.1539-18T>C rs2146233772
NM_006949.4(STXBP2):c.1539-20T>C rs779245767
NM_006949.4(STXBP2):c.1539-2A>G
NM_006949.4(STXBP2):c.1539-5C>T
NM_006949.4(STXBP2):c.1541C>T (p.Ala514Val)
NM_006949.4(STXBP2):c.1546T>C (p.Phe516Leu)
NM_006949.4(STXBP2):c.1549G>T (p.Gly517Cys) rs200026300
NM_006949.4(STXBP2):c.1551T>A (p.Gly517=)
NM_006949.4(STXBP2):c.1554C>T (p.His518=)
NM_006949.4(STXBP2):c.1570G>A (p.Ala524Thr) rs2146233888
NM_006949.4(STXBP2):c.1575_1576inv (p.Ile526Val)
NM_006949.4(STXBP2):c.1576A>T (p.Ile526Leu) rs6791
NM_006949.4(STXBP2):c.1580A>G (p.Glu527Gly)
NM_006949.4(STXBP2):c.1582G>T (p.Ala528Ser) rs1171695512
NM_006949.4(STXBP2):c.1584C>T (p.Ala528=) rs530168896
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln) rs35490401
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006949.4(STXBP2):c.1589C>T (p.Ala530Val)
NM_006949.4(STXBP2):c.1593C>T (p.Gly531=)
NM_006949.4(STXBP2):c.1596C>T (p.Pro532=)
NM_006949.4(STXBP2):c.1599G>T (p.Arg533=)
NM_006949.4(STXBP2):c.1600C>A (p.Leu534Ile)
NM_006949.4(STXBP2):c.1602C>G (p.Leu534=)
NM_006949.4(STXBP2):c.1608G>A (p.Val536=)
NM_006949.4(STXBP2):c.1610A>G (p.Tyr537Cys) rs1205069718
NM_006949.4(STXBP2):c.1611T>C (p.Tyr537=)
NM_006949.4(STXBP2):c.1612G>A (p.Val538Ile) rs2032182835
NM_006949.4(STXBP2):c.1616T>C (p.Met539Thr) rs886054705
NM_006949.4(STXBP2):c.1620C>A (p.Gly540=) rs374131788
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006949.4(STXBP2):c.1621G>T (p.Gly541Cys) rs61736587
NM_006949.4(STXBP2):c.1623T>C (p.Gly541=)
NM_006949.4(STXBP2):c.1630A>G (p.Met544Val) rs1263938690
NM_006949.4(STXBP2):c.1637A>G (p.Glu546Gly)
NM_006949.4(STXBP2):c.1653C>G (p.Tyr551Ter)
NM_006949.4(STXBP2):c.1654G>C (p.Glu552Gln) rs757368965
NM_006949.4(STXBP2):c.1659G>T (p.Val553=)
NM_006949.4(STXBP2):c.1661C>T (p.Thr554Ile)
NM_006949.4(STXBP2):c.1662C>G (p.Thr554=) rs1423929519
NM_006949.4(STXBP2):c.1672G>C (p.Glu558Gln) rs758554274
NM_006949.4(STXBP2):c.1674G>T (p.Glu558Asp) rs780461960
NM_006949.4(STXBP2):c.1687G>A (p.Val563Met) rs1310801774
NM_006949.4(STXBP2):c.169+10C>T rs187240521
NM_006949.4(STXBP2):c.169+11G>A
NM_006949.4(STXBP2):c.169+13_169+17dup rs1568463437
NM_006949.4(STXBP2):c.169+15C>A
NM_006949.4(STXBP2):c.169+16C>T
NM_006949.4(STXBP2):c.169+18del
NM_006949.4(STXBP2):c.169+19_169+44del
NM_006949.4(STXBP2):c.169+20G>C
NM_006949.4(STXBP2):c.169+2T>G rs1555768979
NM_006949.4(STXBP2):c.1693A>G (p.Ile565Val)
NM_006949.4(STXBP2):c.1696+13G>C
NM_006949.4(STXBP2):c.1696+14A>G
NM_006949.4(STXBP2):c.1696+15C>T
NM_006949.4(STXBP2):c.1696+16T>C
NM_006949.4(STXBP2):c.1696+1G>A
NM_006949.4(STXBP2):c.1696+9C>T
NM_006949.4(STXBP2):c.1697-12G>A
NM_006949.4(STXBP2):c.1697-16C>G
NM_006949.4(STXBP2):c.1697-17C>T
NM_006949.4(STXBP2):c.1697-3C>G rs2146234615
NM_006949.4(STXBP2):c.1697-4A>T
NM_006949.4(STXBP2):c.1698C>A (p.Gly566=)
NM_006949.4(STXBP2):c.1698C>T (p.Gly566=)
NM_006949.4(STXBP2):c.16C>T (p.Leu6=)
NM_006949.4(STXBP2):c.170-11G>C
NM_006949.4(STXBP2):c.170-13C>A
NM_006949.4(STXBP2):c.170-15C>T
NM_006949.4(STXBP2):c.170-15del
NM_006949.4(STXBP2):c.170-16C>T
NM_006949.4(STXBP2):c.170-18T>C
NM_006949.4(STXBP2):c.170-4C>T rs2146207903
NM_006949.4(STXBP2):c.1700C>T (p.Ser567Phe)
NM_006949.4(STXBP2):c.1710C>T (p.Ile570=)
NM_006949.4(STXBP2):c.1718C>G (p.Pro573Arg)
NM_006949.4(STXBP2):c.1719G>C (p.Pro573=)
NM_006949.4(STXBP2):c.1722C>A (p.Thr574=)
NM_006949.4(STXBP2):c.1723C>G (p.Arg575Gly) rs201481880
NM_006949.4(STXBP2):c.1724G>T (p.Arg575Leu) rs751679761
NM_006949.4(STXBP2):c.1735_1752dup (p.Asp584_Lys585insAspLeuLysAlaLeuAsp)
NM_006949.4(STXBP2):c.1745C>T (p.Ala582Val)
NM_006949.4(STXBP2):c.1746A>G (p.Ala582=)
NM_006949.4(STXBP2):c.1750G>A (p.Asp584Asn)
NM_006949.4(STXBP2):c.180C>T (p.Asp60=)
NM_006949.4(STXBP2):c.187_190del (p.Lys63fs) rs1217060412
NM_006949.4(STXBP2):c.202A>G (p.Ile68Val)
NM_006949.4(STXBP2):c.208A>G (p.Ser70Gly)
NM_006949.4(STXBP2):c.212_213del (p.Leu71fs) rs1555769166
NM_006949.4(STXBP2):c.21G>A (p.Lys7=) rs2146202594
NM_006949.4(STXBP2):c.229C>T (p.Leu77=)
NM_006949.4(STXBP2):c.22G>A (p.Ala8Thr) rs1013949732
NM_006949.4(STXBP2):c.233G>T (p.Ser78Ile) rs1050758306
NM_006949.4(STXBP2):c.235C>T (p.Pro79Ser)
NM_006949.4(STXBP2):c.237C>T (p.Pro79=)
NM_006949.4(STXBP2):c.238A>T (p.Thr80Ser)
NM_006949.4(STXBP2):c.244_246del (p.Lys82del)
NM_006949.4(STXBP2):c.246+15G>A
NM_006949.4(STXBP2):c.246+16_246+19del
NM_006949.4(STXBP2):c.246+16_246+21del rs759078080
NM_006949.4(STXBP2):c.246+19G>C
NM_006949.4(STXBP2):c.246+19GT[3] rs771901697
NM_006949.4(STXBP2):c.246+1G>T
NM_006949.4(STXBP2):c.246+5C>T rs369629603
NM_006949.4(STXBP2):c.246+9A>G
NM_006949.4(STXBP2):c.247-18G>A
NM_006949.4(STXBP2):c.247-1G>T
NM_006949.4(STXBP2):c.247-2A>C rs921624651
NM_006949.4(STXBP2):c.247-2A>G
NM_006949.4(STXBP2):c.247-2_284del
NM_006949.4(STXBP2):c.247-4C>G
NM_006949.4(STXBP2):c.248C>T (p.Ser83Leu) rs768490233
NM_006949.4(STXBP2):c.249G>A (p.Ser83=) rs1374023769
NM_006949.4(STXBP2):c.249G>C (p.Ser83=) rs1374023769
NM_006949.4(STXBP2):c.24G>C (p.Ala8=) rs1023607092
NM_006949.4(STXBP2):c.24G>T (p.Ala8=)
NM_006949.4(STXBP2):c.255G>A (p.Gln85=)
NM_006949.4(STXBP2):c.261G>A (p.Leu87=)
NM_006949.4(STXBP2):c.277G>A (p.Gly93Arg) rs1428524496
NM_006949.4(STXBP2):c.279G>A (p.Gly93=)
NM_006949.4(STXBP2):c.279G>T (p.Gly93=) rs776110816
NM_006949.4(STXBP2):c.27G>A (p.Val9=) rs969393527
NM_006949.4(STXBP2):c.284del (p.Pro95fs) rs1158166238
NM_006949.4(STXBP2):c.287C>A (p.Thr96Asn) rs139280621
NM_006949.4(STXBP2):c.287C>T (p.Thr96Ile) rs139280621
NM_006949.4(STXBP2):c.291C>T (p.Phe97=)
NM_006949.4(STXBP2):c.295T>C (p.Tyr99His)
NM_006949.4(STXBP2):c.297C>G (p.Tyr99Ter)
NM_006949.4(STXBP2):c.29T>C (p.Val10Ala) rs2098942359
NM_006949.4(STXBP2):c.300A>G (p.Lys100=)
NM_006949.4(STXBP2):c.302C>T (p.Ala101Val)
NM_006949.4(STXBP2):c.30G>A (p.Val10=) rs1599386198
NM_006949.4(STXBP2):c.30G>C (p.Val10=)
NM_006949.4(STXBP2):c.30G>T (p.Val10=)
NM_006949.4(STXBP2):c.315C>T (p.Phe105=)
NM_006949.4(STXBP2):c.325+18_325+19delinsCA
NM_006949.4(STXBP2):c.325+20G>A
NM_006949.4(STXBP2):c.325+6T>C
NM_006949.4(STXBP2):c.325+7G>A
NM_006949.4(STXBP2):c.326-12G>A
NM_006949.4(STXBP2):c.326-15C>G rs1470980370
NM_006949.4(STXBP2):c.326-1G>C rs2031844309
NM_006949.4(STXBP2):c.326-29C>T
NM_006949.4(STXBP2):c.326-30_326-23del
NM_006949.4(STXBP2):c.326-31G>T
NM_006949.4(STXBP2):c.336G>C (p.Glu112Asp)
NM_006949.4(STXBP2):c.340C>T (p.Leu114=)
NM_006949.4(STXBP2):c.342G>A (p.Leu114=)
NM_006949.4(STXBP2):c.342G>C (p.Leu114=)
NM_006949.4(STXBP2):c.34dup (p.Glu12fs)
NM_006949.4(STXBP2):c.355G>C (p.Gly119Arg) rs1250649701
NM_006949.4(STXBP2):c.360C>G (p.Arg120=)
NM_006949.4(STXBP2):c.360C>T (p.Arg120=) rs748808124
NM_006949.4(STXBP2):c.363T>G (p.Ser121=)
NM_006949.4(STXBP2):c.37+14C>T
NM_006949.4(STXBP2):c.37+15G>A
NM_006949.4(STXBP2):c.37+15G>C
NM_006949.4(STXBP2):c.37+18G>C
NM_006949.4(STXBP2):c.37+19C>T
NM_006949.4(STXBP2):c.37+20C>A
NM_006949.4(STXBP2):c.37+20C>T
NM_006949.4(STXBP2):c.37+596_82delinsCAGCTCTGAGGCATGCCTAGCTGAGGCTATCCCACTGACCTCCGGTCTCAGTTTCCTCATCTGTAAAATGGAATCACTTTTTTCTAATCTCCCCCAATTAAAGGGGTTTGAGCTACAGACCGCCCTGCCTAGAGGAGAGAGTGGAGAGAAGTAACGGGGTGGCCCCGCCCAGCCACGTCCACTGTGTCATGTCCACTGTTATCAAGACGGCCAG
NM_006949.4(STXBP2):c.37+7G>T rs1229883838
NM_006949.4(STXBP2):c.372A>G (p.Ala124=)
NM_006949.4(STXBP2):c.375G>A (p.Lys125=)
NM_006949.4(STXBP2):c.377T>C (p.Val126Ala) rs2146213993
NM_006949.4(STXBP2):c.38-20C>T rs2031666338
NM_006949.4(STXBP2):c.384G>A (p.Lys128=)
NM_006949.4(STXBP2):c.386C>T (p.Thr129Met)
NM_006949.4(STXBP2):c.388T>C (p.Leu130=)
NM_006949.4(STXBP2):c.405T>C (p.Leu135=)
NM_006949.4(STXBP2):c.408C>G (p.Ala136=)
NM_006949.4(STXBP2):c.414C>T (p.Leu138=)
NM_006949.4(STXBP2):c.419A>G (p.Tyr140Cys) rs1202493559
NM_006949.4(STXBP2):c.420C>A (p.Tyr140Ter)
NM_006949.4(STXBP2):c.426C>T (p.Ala142=) rs948303875
NM_006949.4(STXBP2):c.429+11G>A
NM_006949.4(STXBP2):c.429+11G>T
NM_006949.4(STXBP2):c.429+13C>G
NM_006949.4(STXBP2):c.429+15C>T
NM_006949.4(STXBP2):c.429+16A>G
NM_006949.4(STXBP2):c.429+1G>C
NM_006949.4(STXBP2):c.429+5G>A rs778509701
NM_006949.4(STXBP2):c.429+5G>C
NM_006949.4(STXBP2):c.429+9C>G
NM_006949.4(STXBP2):c.429+9C>T
NM_006949.4(STXBP2):c.429+9_429+16del
NM_006949.4(STXBP2):c.430-10C>T
NM_006949.4(STXBP2):c.430-13C>G
NM_006949.4(STXBP2):c.430-14C>G
NM_006949.4(STXBP2):c.430-15C>G
NM_006949.4(STXBP2):c.430-17G>A
NM_006949.4(STXBP2):c.430-19C>T
NM_006949.4(STXBP2):c.430-7C>T
NM_006949.4(STXBP2):c.430-9C>T
NM_006949.4(STXBP2):c.435C>T (p.Phe145=)
NM_006949.4(STXBP2):c.441C>G (p.Leu147=)
NM_006949.4(STXBP2):c.442G>A (p.Asp148Asn) rs748998296
NM_006949.4(STXBP2):c.445G>A (p.Ala149Thr)
NM_006949.4(STXBP2):c.456C>T (p.Ser152=)
NM_006949.4(STXBP2):c.459C>G (p.Thr153=)
NM_006949.4(STXBP2):c.461A>G (p.Tyr154Cys) rs1360171674
NM_006949.4(STXBP2):c.462C>T (p.Tyr154=) rs2146215800
NM_006949.4(STXBP2):c.466C>T (p.Leu156Phe) rs1269776643
NM_006949.4(STXBP2):c.468C>T (p.Leu156=)
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) rs1599397070
NM_006949.4(STXBP2):c.477C>G (p.Pro159=)
NM_006949.4(STXBP2):c.47G>A (p.Ser16Asn) rs2146206110
NM_006949.4(STXBP2):c.485C>T (p.Ala162Val)
NM_006949.4(STXBP2):c.493C>T (p.Arg165Cys) rs1364548535
NM_006949.4(STXBP2):c.498G>A (p.Thr166=) rs566354422
NM_006949.4(STXBP2):c.498G>T (p.Thr166=)
NM_006949.4(STXBP2):c.500G>A (p.Arg167Gln) rs949311854
NM_006949.4(STXBP2):c.507C>A (p.Leu169=)
NM_006949.4(STXBP2):c.507C>T (p.Leu169=)
NM_006949.4(STXBP2):c.515T>C (p.Leu172Pro) rs2146216023
NM_006949.4(STXBP2):c.519C>T (p.Ala173=)
NM_006949.4(STXBP2):c.526A>G (p.Ile176Val)
NM_006949.4(STXBP2):c.534G>A (p.Thr178=)
NM_006949.4(STXBP2):c.534G>T (p.Thr178=)
NM_006949.4(STXBP2):c.537G>A (p.Leu179=)
NM_006949.4(STXBP2):c.539_540delinsAA (p.Cys180Ter) rs2146216115
NM_006949.4(STXBP2):c.540C>T (p.Cys180=)
NM_006949.4(STXBP2):c.541G>T (p.Ala181Ser) rs1338883281
NM_006949.4(STXBP2):c.542C>T (p.Ala181Val)
NM_006949.4(STXBP2):c.551A>G (p.Gln184Arg)
NM_006949.4(STXBP2):c.560C>T (p.Pro187Leu)
NM_006949.4(STXBP2):c.567C>A (p.Ile189=)
NM_006949.4(STXBP2):c.569G>A (p.Arg190His) rs1200494574
NM_006949.4(STXBP2):c.573C>T (p.Tyr191=)
NM_006949.4(STXBP2):c.574C>T (p.Arg192Cys) rs571713524
NM_006949.4(STXBP2):c.578+11_578+16dup
NM_006949.4(STXBP2):c.578+16A>C
NM_006949.4(STXBP2):c.578+17G>A
NM_006949.4(STXBP2):c.578+18C>T
NM_006949.4(STXBP2):c.578+8C>T rs1473440853
NM_006949.4(STXBP2):c.578+9C>G
NM_006949.4(STXBP2):c.578A>G (p.Lys193Arg)
NM_006949.4(STXBP2):c.579-11C>T
NM_006949.4(STXBP2):c.579-12C>T
NM_006949.4(STXBP2):c.579-19_579-5del rs2146216896
NM_006949.4(STXBP2):c.579-6C>T rs375979474
NM_006949.4(STXBP2):c.579-7C>T
NM_006949.4(STXBP2):c.579-8C>T
NM_006949.4(STXBP2):c.579G>T (p.Lys193Asn) rs370172171
NM_006949.4(STXBP2):c.581G>T (p.Gly194Val)
NM_006949.4(STXBP2):c.595G>A (p.Ala199Thr) rs2146217053
NM_006949.4(STXBP2):c.5C>T (p.Ala2Val) rs1599386139
NM_006949.4(STXBP2):c.612C>A (p.Ala204=) rs113033216
NM_006949.4(STXBP2):c.615C>T (p.Val205=)
NM_006949.4(STXBP2):c.633C>T (p.Ala211=)
NM_006949.4(STXBP2):c.635T>C (p.Phe212Ser) rs2031909131
NM_006949.4(STXBP2):c.638A>C (p.Lys213Thr) rs2146217232
NM_006949.4(STXBP2):c.646A>G (p.Thr216Ala)
NM_006949.4(STXBP2):c.651C>T (p.Pro217=) rs2146217274
NM_006949.4(STXBP2):c.660C>T (p.Gly220=)
NM_006949.4(STXBP2):c.661G>T (p.Glu221Ter)
NM_006949.4(STXBP2):c.663+10C>A
NM_006949.4(STXBP2):c.663+11_663+30del rs760537284
NM_006949.4(STXBP2):c.663+12T>A
NM_006949.4(STXBP2):c.663+19G>A
NM_006949.4(STXBP2):c.663+19del rs111268794
NM_006949.4(STXBP2):c.663+7G>T
NM_006949.4(STXBP2):c.663+8G>T
NM_006949.4(STXBP2):c.663+9G>T
NM_006949.4(STXBP2):c.664-11C>A
NM_006949.4(STXBP2):c.664-13A>T rs2146217548
NM_006949.4(STXBP2):c.664-7A>G
NM_006949.4(STXBP2):c.664-8C>T
NM_006949.4(STXBP2):c.664-9C>T
NM_006949.4(STXBP2):c.670G>A (p.Glu224Lys) rs2146217637
NM_006949.4(STXBP2):c.671A>G (p.Glu224Gly)
NM_006949.4(STXBP2):c.678C>G (p.Thr226=)
NM_006949.4(STXBP2):c.678C>T (p.Thr226=)
NM_006949.4(STXBP2):c.679C>A (p.Arg227Ser)
NM_006949.4(STXBP2):c.680G>T (p.Arg227Leu)
NM_006949.4(STXBP2):c.688C>T (p.Leu230=)
NM_006949.4(STXBP2):c.68A>G (p.Lys23Arg) rs1401766158
NM_006949.4(STXBP2):c.693G>A (p.Leu231=) rs2146217766
NM_006949.4(STXBP2):c.698T>C (p.Met233Thr) rs373830051
NM_006949.4(STXBP2):c.6G>A (p.Ala2=)
NM_006949.4(STXBP2):c.6G>T (p.Ala2=)
NM_006949.4(STXBP2):c.702C>G (p.Asp234Glu) rs2031917623
NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly) rs753879238
NM_006949.4(STXBP2):c.708A>G (p.Ala236=)
NM_006949.4(STXBP2):c.708_794delinsCTGGAACGTGAGCTCATGCA (p.Ala237fs)
NM_006949.4(STXBP2):c.714C>T (p.Asp238=)
NM_006949.4(STXBP2):c.71_72del (p.Lys24fs)
NM_006949.4(STXBP2):c.723C>T (p.Ser241=)
NM_006949.4(STXBP2):c.726A>G (p.Pro242=)
NM_006949.4(STXBP2):c.730C>T (p.Leu244=)
NM_006949.4(STXBP2):c.741C>G (p.Leu247=)
NM_006949.4(STXBP2):c.746T>C (p.Phe249Ser)
NM_006949.4(STXBP2):c.751G>A (p.Ala251Thr) rs747657429
NM_006949.4(STXBP2):c.753C>T (p.Ala251=)
NM_006949.4(STXBP2):c.757G>T (p.Ala253Ser) rs2031920386
NM_006949.4(STXBP2):c.758C>A (p.Ala253Glu) rs140252723
NM_006949.4(STXBP2):c.761A>G (p.Tyr254Cys)
NM_006949.4(STXBP2):c.765T>G (p.Asp255Glu) rs2146217996
NM_006949.4(STXBP2):c.766CTG[1] (p.Leu257del) rs2031920971
NM_006949.4(STXBP2):c.775A>G (p.Ile259Val)
NM_006949.4(STXBP2):c.778G>A (p.Glu260Lys) rs1279733096
NM_006949.4(STXBP2):c.794+10C>T
NM_006949.4(STXBP2):c.794+17C>G
NM_006949.4(STXBP2):c.794+17C>T
NM_006949.4(STXBP2):c.794+19C>T
NM_006949.4(STXBP2):c.794+20G>C
NM_006949.4(STXBP2):c.794+3C>G rs2146218160
NM_006949.4(STXBP2):c.794+8G>A
NM_006949.4(STXBP2):c.794+9A>G
NM_006949.4(STXBP2):c.795-10T>A rs1370953207
NM_006949.4(STXBP2):c.795-15C>T
NM_006949.4(STXBP2):c.795-20G>C
NM_006949.4(STXBP2):c.795-3C>T rs2031927304
NM_006949.4(STXBP2):c.795-7T>C rs1163565684
NM_006949.4(STXBP2):c.795-8C>T
NM_006949.4(STXBP2):c.7C>T (p.Pro3Ser)
NM_006949.4(STXBP2):c.803C>A (p.Thr268Asn)
NM_006949.4(STXBP2):c.804C>T (p.Thr268=)
NM_006949.4(STXBP2):c.807C>T (p.Thr269=)
NM_006949.4(STXBP2):c.808G>A (p.Gly270Arg) rs187320742
NM_006949.4(STXBP2):c.80del (p.Glu27fs)
NM_006949.4(STXBP2):c.810G>A (p.Gly270=) rs775622193
NM_006949.4(STXBP2):c.811C>T (p.Leu271=)
NM_006949.4(STXBP2):c.813G>A (p.Leu271=)
NM_006949.4(STXBP2):c.817G>C (p.Glu273Gln)
NM_006949.4(STXBP2):c.821C>T (p.Ala274Val) rs763174109
NM_006949.4(STXBP2):c.825G>A (p.Arg275=)
NM_006949.4(STXBP2):c.834C>T (p.Ala278=)
NM_006949.4(STXBP2):c.852C>T (p.Asp284=)
NM_006949.4(STXBP2):c.855T>C (p.Asp285=)
NM_006949.4(STXBP2):c.858C>G (p.Asp286Glu)
NM_006949.4(STXBP2):c.859_883del (p.Leu287fs)
NM_006949.4(STXBP2):c.864G>A (p.Trp288Ter)
NM_006949.4(STXBP2):c.87+15G>A
NM_006949.4(STXBP2):c.87+16A>G
NM_006949.4(STXBP2):c.87+19G>A
NM_006949.4(STXBP2):c.87+1G>A
NM_006949.4(STXBP2):c.87+2T>C
NM_006949.4(STXBP2):c.87+3A>T rs2146206238
NM_006949.4(STXBP2):c.87+7dup
NM_006949.4(STXBP2):c.874C>T (p.Arg292Cys)
NM_006949.4(STXBP2):c.87G>A (p.Lys29=) rs2146206226
NM_006949.4(STXBP2):c.88-10A>G
NM_006949.4(STXBP2):c.88-12C>T rs748253705
NM_006949.4(STXBP2):c.88-17_88-6del rs781762309
NM_006949.4(STXBP2):c.88-3C>T rs2146206672
NM_006949.4(STXBP2):c.88-8C>G rs2031682268
NM_006949.4(STXBP2):c.892G>A (p.Asp298Asn)
NM_006949.4(STXBP2):c.897G>T (p.Val299=)
NM_006949.4(STXBP2):c.901_902delinsCC (p.Lys301Pro)
NM_006949.4(STXBP2):c.902+11A>C rs1033477720
NM_006949.4(STXBP2):c.902+11A>G
NM_006949.4(STXBP2):c.902+13G>A
NM_006949.4(STXBP2):c.902+15G>A
NM_006949.4(STXBP2):c.902+19_902+20insATC
NM_006949.4(STXBP2):c.902+1G>A
NM_006949.4(STXBP2):c.902+7G>A
NM_006949.4(STXBP2):c.902+8C>T rs763005796
NM_006949.4(STXBP2):c.903-10T>G rs2146219745
NM_006949.4(STXBP2):c.903-11C>G
NM_006949.4(STXBP2):c.903-11C>T
NM_006949.4(STXBP2):c.903-13C>A
NM_006949.4(STXBP2):c.903-15C>T
NM_006949.4(STXBP2):c.903-16_903-15insT
NM_006949.4(STXBP2):c.903-18G>T
NM_006949.4(STXBP2):c.903-20C>G rs2146219704
NM_006949.4(STXBP2):c.903-5G>A
NM_006949.4(STXBP2):c.903-8A>G
NM_006949.4(STXBP2):c.910A>T (p.Thr304Ser)
NM_006949.4(STXBP2):c.912G>C (p.Thr304=)
NM_006949.4(STXBP2):c.921G>C (p.Leu307=)
NM_006949.4(STXBP2):c.927C>T (p.Thr309=)
NM_006949.4(STXBP2):c.934G>A (p.Glu312Lys) rs746027500
NM_006949.4(STXBP2):c.948G>A (p.Leu316=)
NM_006949.4(STXBP2):c.948G>C (p.Leu316=)
NM_006949.4(STXBP2):c.954G>C (p.Thr318=)
NM_006949.4(STXBP2):c.960+11A>C
NM_006949.4(STXBP2):c.960+13C>G
NM_006949.4(STXBP2):c.960+14C>A
NM_006949.4(STXBP2):c.960+14C>T
NM_006949.4(STXBP2):c.960+16G>A
NM_006949.4(STXBP2):c.960+1G>T
NM_006949.4(STXBP2):c.960+4G>C
NM_006949.4(STXBP2):c.960+8C>G
NM_006949.4(STXBP2):c.960+8C>T
NM_006949.4(STXBP2):c.961-13C>G
NM_006949.4(STXBP2):c.961-14C>T rs755986606
NM_006949.4(STXBP2):c.961-15C>T
NM_006949.4(STXBP2):c.961-16C>T
NM_006949.4(STXBP2):c.961-18T>C
NM_006949.4(STXBP2):c.961-4C>T
NM_006949.4(STXBP2):c.961-6C>A
NM_006949.4(STXBP2):c.961-6C>T
NM_006949.4(STXBP2):c.963G>A (p.Ala321=) rs757211999
NM_006949.4(STXBP2):c.981C>T (p.Ser327=)
NM_006949.4(STXBP2):c.982C>T (p.Gln328Ter) rs2146220482
NM_006949.4(STXBP2):c.984G>A (p.Gln328=)
NM_006949.4(STXBP2):c.987C>T (p.Ile329=) rs1599400075
NM_006949.4(STXBP2):c.996G>A (p.Lys332=)
NM_006949.4(STXBP2):c.997A>C (p.Met333Leu)

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