NM_006772.3(SYNGAP1):c.4021G>A (p.Ala1341Thr)
|
rs771224281
|
0.00006
|
NM_006772.3(SYNGAP1):c.2111G>A (p.Ser704Asn)
|
rs775884756
|
0.00004
|
NM_006772.3(SYNGAP1):c.2681G>A (p.Gly894Glu)
|
rs1761098256
|
0.00004
|
NM_006772.3(SYNGAP1):c.2362T>A (p.Ser788Thr)
|
rs201062426
|
0.00003
|
NM_006772.3(SYNGAP1):c.2695A>G (p.Ile899Val)
|
rs143862418
|
0.00003
|
NM_006772.3(SYNGAP1):c.3175G>A (p.Gly1059Arg)
|
rs371016945
|
0.00003
|
NM_006772.3(SYNGAP1):c.1160G>T (p.Gly387Val)
|
rs539316061
|
0.00002
|
NM_006772.3(SYNGAP1):c.1286G>A (p.Arg429Gln)
|
rs772336493
|
0.00002
|
NM_006772.3(SYNGAP1):c.2095G>A (p.Val699Met)
|
rs902954541
|
0.00002
|
NM_006772.3(SYNGAP1):c.2591C>T (p.Ala864Val)
|
rs1581995772
|
0.00002
|
NM_006772.3(SYNGAP1):c.2743G>A (p.Gly915Ser)
|
rs773316877
|
0.00002
|
NM_006772.3(SYNGAP1):c.2829C>T (p.Gly943=)
|
rs1185150405
|
0.00002
|
NM_006772.3(SYNGAP1):c.2888A>G (p.His963Arg)
|
rs777418257
|
0.00002
|
NM_006772.3(SYNGAP1):c.3056G>A (p.Arg1019His)
|
rs747078316
|
0.00002
|
NM_006772.3(SYNGAP1):c.407G>A (p.Arg136Gln)
|
rs759426721
|
0.00002
|
NM_006772.3(SYNGAP1):c.1025A>G (p.Tyr342Cys)
|
rs777562660
|
0.00001
|
NM_006772.3(SYNGAP1):c.1108G>A (p.Gly370Ser)
|
rs1760895701
|
0.00001
|
NM_006772.3(SYNGAP1):c.121C>T (p.Arg41Cys)
|
rs762142487
|
0.00001
|
NM_006772.3(SYNGAP1):c.1312G>A (p.Ala438Thr)
|
rs765011916
|
0.00001
|
NM_006772.3(SYNGAP1):c.163C>A (p.Gln55Lys)
|
rs752176449
|
0.00001
|
NM_006772.3(SYNGAP1):c.1730C>G (p.Ala577Gly)
|
rs1761009822
|
0.00001
|
NM_006772.3(SYNGAP1):c.1738G>A (p.Gly580Ser)
|
rs1761010096
|
0.00001
|
NM_006772.3(SYNGAP1):c.1811C>T (p.Ser604Leu)
|
rs1554121714
|
0.00001
|
NM_006772.3(SYNGAP1):c.1819C>G (p.Leu607Val)
|
rs765714815
|
0.00001
|
NM_006772.3(SYNGAP1):c.2218C>T (p.Arg740Trp)
|
rs1761047927
|
0.00001
|
NM_006772.3(SYNGAP1):c.2221C>T (p.Pro741Ser)
|
rs760257950
|
0.00001
|
NM_006772.3(SYNGAP1):c.2225G>A (p.Arg742Gln)
|
rs959800067
|
0.00001
|
NM_006772.3(SYNGAP1):c.2353C>T (p.Arg785Cys)
|
rs747929833
|
0.00001
|
NM_006772.3(SYNGAP1):c.2435C>A (p.Pro812His)
|
rs1025055399
|
0.00001
|
NM_006772.3(SYNGAP1):c.2506A>G (p.Ser836Gly)
|
rs1554122198
|
0.00001
|
NM_006772.3(SYNGAP1):c.2522T>C (p.Val841Ala)
|
rs1761093694
|
0.00001
|
NM_006772.3(SYNGAP1):c.2596G>T (p.Val866Leu)
|
rs768878991
|
0.00001
|
NM_006772.3(SYNGAP1):c.280C>T (p.Pro94Ser)
|
rs773668772
|
0.00001
|
NM_006772.3(SYNGAP1):c.29G>C (p.Arg10Pro)
|
rs866982002
|
0.00001
|
NM_006772.3(SYNGAP1):c.3038C>G (p.Ser1013Cys)
|
rs755983620
|
0.00001
|
NM_006772.3(SYNGAP1):c.3176G>C (p.Gly1059Ala)
|
rs567475546
|
0.00001
|
NM_006772.3(SYNGAP1):c.3197C>T (p.Pro1066Leu)
|
rs757344392
|
0.00001
|
NM_006772.3(SYNGAP1):c.323A>G (p.Lys108Arg)
|
rs1045348270
|
0.00001
|
NM_006772.3(SYNGAP1):c.3304G>A (p.Ala1102Thr)
|
rs759377340
|
0.00001
|
NM_006772.3(SYNGAP1):c.335G>C (p.Gly112Ala)
|
rs781711559
|
0.00001
|
NM_006772.3(SYNGAP1):c.3368G>A (p.Gly1123Asp)
|
rs935415064
|
0.00001
|
NM_006772.3(SYNGAP1):c.3572G>A (p.Arg1191Gln)
|
rs574603811
|
0.00001
|
NM_006772.3(SYNGAP1):c.3583-3C>T
|
rs771888857
|
0.00001
|
NM_006772.3(SYNGAP1):c.3922C>T (p.Arg1308Cys)
|
rs918621494
|
0.00001
|
NM_006772.3(SYNGAP1):c.485G>A (p.Arg162His)
|
rs1441022412
|
0.00001
|
NM_006772.3(SYNGAP1):c.48G>A (p.Met16Ile)
|
rs1776745451
|
0.00001
|
NM_006772.3(SYNGAP1):c.514C>T (p.Arg172Trp)
|
rs142649710
|
0.00001
|
NM_006772.3(SYNGAP1):c.515G>A (p.Arg172Gln)
|
rs1464583488
|
0.00001
|
NM_006772.3(SYNGAP1):c.5G>A (p.Ser2Asn)
|
rs767981313
|
0.00001
|
NM_006772.3(SYNGAP1):c.82T>C (p.Ser28Pro)
|
rs1776860607
|
0.00001
|
NM_006772.3(SYNGAP1):c.913A>G (p.Thr305Ala)
|
rs1226093664
|
0.00001
|
NM_006772.3(SYNGAP1):c.970C>T (p.Arg324Trp)
|
rs1760892056
|
0.00001
|
NM_006772.3(SYNGAP1):c.1003C>T (p.Arg335Cys)
|
|
|
NM_006772.3(SYNGAP1):c.1004G>A (p.Arg335His)
|
|
|
NM_006772.3(SYNGAP1):c.1006AAG[1] (p.Lys337del)
|
rs2151169092
|
|
NM_006772.3(SYNGAP1):c.1025A>C (p.Tyr342Ser)
|
|
|
NM_006772.3(SYNGAP1):c.1027G>A (p.Val343Ile)
|
|
|
NM_006772.3(SYNGAP1):c.106C>T (p.His36Tyr)
|
|
|
NM_006772.3(SYNGAP1):c.1121C>A (p.Ser374Tyr)
|
|
|
NM_006772.3(SYNGAP1):c.1136C>G (p.Ser379Trp)
|
rs371883908
|
|
NM_006772.3(SYNGAP1):c.1142G>T (p.Gly381Val)
|
|
|
NM_006772.3(SYNGAP1):c.1147G>T (p.Gly383Trp)
|
|
|
NM_006772.3(SYNGAP1):c.1150G>A (p.Gly384Ser)
|
rs1383773141
|
|
NM_006772.3(SYNGAP1):c.1153T>C (p.Ser385Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1169G>A (p.Gly390Glu)
|
|
|
NM_006772.3(SYNGAP1):c.1172G>T (p.Gly391Val)
|
rs759298823
|
|
NM_006772.3(SYNGAP1):c.1193C>T (p.Pro398Leu)
|
|
|
NM_006772.3(SYNGAP1):c.1202G>A (p.Arg401Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1221G>T (p.Gln407His)
|
|
|
NM_006772.3(SYNGAP1):c.1256A>G (p.Glu419Gly)
|
|
|
NM_006772.3(SYNGAP1):c.1260T>G (p.Phe420Leu)
|
rs2151170025
|
|
NM_006772.3(SYNGAP1):c.1304T>G (p.Leu435Trp)
|
rs1554121281
|
|
NM_006772.3(SYNGAP1):c.1345A>G (p.Ser449Gly)
|
|
|
NM_006772.3(SYNGAP1):c.1354G>T (p.Val452Phe)
|
rs2151170390
|
|
NM_006772.3(SYNGAP1):c.1367A>C (p.Gln456Pro)
|
|
|
NM_006772.3(SYNGAP1):c.13C>G (p.Arg5Gly)
|
|
|
NM_006772.3(SYNGAP1):c.1406C>A (p.Ala469Asp)
|
rs1760914664
|
|
NM_006772.3(SYNGAP1):c.1406_1426del (p.Ala469_Phe476delinsVal)
|
rs1760914733
|
|
NM_006772.3(SYNGAP1):c.1424G>A (p.Arg475Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1428C>G (p.Phe476Leu)
|
rs1349979668
|
|
NM_006772.3(SYNGAP1):c.1436G>A (p.Arg479Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1447A>G (p.Ile483Val)
|
|
|
NM_006772.3(SYNGAP1):c.1453C>T (p.Arg485Cys)
|
|
|
NM_006772.3(SYNGAP1):c.1456G>A (p.Glu486Lys)
|
rs1554121336
|
|
NM_006772.3(SYNGAP1):c.1463C>T (p.Thr488Met)
|
|
|
NM_006772.3(SYNGAP1):c.1466T>C (p.Leu489Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1468G>C (p.Ala490Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1474A>G (p.Lys492Glu)
|
|
|
NM_006772.3(SYNGAP1):c.1480A>G (p.Ile494Val)
|
|
|
NM_006772.3(SYNGAP1):c.1485A>C (p.Glu495Asp)
|
|
|
NM_006772.3(SYNGAP1):c.1487A>G (p.Glu496Gly)
|
rs2151171315
|
|
NM_006772.3(SYNGAP1):c.1490A>G (p.Tyr497Cys)
|
|
|
NM_006772.3(SYNGAP1):c.1499T>C (p.Leu500Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1532-3C>T
|
|
|
NM_006772.3(SYNGAP1):c.155C>T (p.Ser52Leu)
|
rs1554304680
|
|
NM_006772.3(SYNGAP1):c.156G>A (p.Ser52=)
|
rs1554304681
|
|
NM_006772.3(SYNGAP1):c.1622C>G (p.Ala541Gly)
|
rs2151172597
|
|
NM_006772.3(SYNGAP1):c.1631G>A (p.Arg544Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1651C>A (p.Leu551Met)
|
|
|
NM_006772.3(SYNGAP1):c.1658A>C (p.Lys553Thr)
|
|
|
NM_006772.3(SYNGAP1):c.1667A>G (p.Asn556Ser)
|
rs1456113410
|
|
NM_006772.3(SYNGAP1):c.1676+5G>C
|
rs1760935231
|
|
NM_006772.3(SYNGAP1):c.1678G>A (p.Val560Met)
|
|
|
NM_006772.3(SYNGAP1):c.1697AGG[1] (p.Glu567del)
|
rs2151180443
|
|
NM_006772.3(SYNGAP1):c.169C>T (p.Leu57Phe)
|
|
|
NM_006772.3(SYNGAP1):c.1702G>T (p.Val568Leu)
|
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
NM_006772.3(SYNGAP1):c.1726T>C (p.Cys576Arg)
|
|
|
NM_006772.3(SYNGAP1):c.172A>G (p.Met58Val)
|
|
|
NM_006772.3(SYNGAP1):c.1752C>G (p.Ile584Met)
|
rs1761010544
|
|
NM_006772.3(SYNGAP1):c.1767C>G (p.Ile589Met)
|
rs1761011170
|
|
NM_006772.3(SYNGAP1):c.1771G>C (p.Ala591Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1784T>A (p.Leu595Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1786C>T (p.Arg596Cys)
|
|
|
NM_006772.3(SYNGAP1):c.1792C>G (p.Leu598Val)
|
|
|
NM_006772.3(SYNGAP1):c.1802C>T (p.Ala601Val)
|
rs1761012352
|
|
NM_006772.3(SYNGAP1):c.1813C>T (p.Pro605Ser)
|
|
|
NM_006772.3(SYNGAP1):c.187G>A (p.Glu63Lys)
|
|
|
NM_006772.3(SYNGAP1):c.187G>C (p.Glu63Gln)
|
|
|
NM_006772.3(SYNGAP1):c.1887C>A (p.Val629=)
|
|
|
NM_006772.3(SYNGAP1):c.1913A>G (p.Lys638Arg)
|
|
|
NM_006772.3(SYNGAP1):c.1914-9C>A
|
rs1761033033
|
|
NM_006772.3(SYNGAP1):c.1918A>T (p.Thr640Ser)
|
|
|
NM_006772.3(SYNGAP1):c.194A>G (p.His65Arg)
|
rs1776941711
|
|
NM_006772.3(SYNGAP1):c.1964T>A (p.Leu655Gln)
|
rs2151182352
|
|
NM_006772.3(SYNGAP1):c.1970G>T (p.Trp657Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2015C>A (p.Thr672Lys)
|
|
|
NM_006772.3(SYNGAP1):c.2015C>T (p.Thr672Met)
|
rs1405483444
|
|
NM_006772.3(SYNGAP1):c.2068T>C (p.Ser690Pro)
|
rs1761036812
|
|
NM_006772.3(SYNGAP1):c.2075T>A (p.Leu692Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2075T>C (p.Leu692Pro)
|
rs1761037096
|
|
NM_006772.3(SYNGAP1):c.2101C>T (p.Pro701Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2105A>G (p.Gln702Arg)
|
rs2151182770
|
|
NM_006772.3(SYNGAP1):c.2111G>C (p.Ser704Thr)
|
rs775884756
|
|
NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=)
|
rs1057518786
|
|
NM_006772.3(SYNGAP1):c.2116G>A (p.Glu706Lys)
|
|
|
NM_006772.3(SYNGAP1):c.2144_2146del (p.Pro715del)
|
rs2151183695
|
|
NM_006772.3(SYNGAP1):c.2162T>G (p.Ile721Ser)
|
rs1581993511
|
|
NM_006772.3(SYNGAP1):c.2195G>C (p.Arg732Thr)
|
rs934177451
|
|
NM_006772.3(SYNGAP1):c.2200C>T (p.Pro734Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2207G>A (p.Arg736His)
|
rs151334677
|
|
NM_006772.3(SYNGAP1):c.2216A>T (p.Glu739Val)
|
|
|
NM_006772.3(SYNGAP1):c.2219G>A (p.Arg740Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2239G>C (p.Val747Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2245C>T (p.Arg749Trp)
|
|
|
NM_006772.3(SYNGAP1):c.2249G>A (p.Gly750Glu)
|
rs2151183981
|
|
NM_006772.3(SYNGAP1):c.2255C>T (p.Ser752Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2275A>C (p.Met759Leu)
|
rs369386806
|
|
NM_006772.3(SYNGAP1):c.227C>G (p.Ser76Cys)
|
|
|
NM_006772.3(SYNGAP1):c.2282G>A (p.Arg761Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2294+5G>T
|
|
|
NM_006772.3(SYNGAP1):c.2294G>A (p.Ser765Asn)
|
|
|
NM_006772.3(SYNGAP1):c.2299A>G (p.Ile767Val)
|
rs2151186108
|
|
NM_006772.3(SYNGAP1):c.2300T>C (p.Ile767Thr)
|
rs1761069975
|
|
NM_006772.3(SYNGAP1):c.2302G>T (p.Asp768Tyr)
|
rs762736087
|
|
NM_006772.3(SYNGAP1):c.2343G>A (p.Met781Ile)
|
|
|
NM_006772.3(SYNGAP1):c.2354G>A (p.Arg785His)
|
|
|
NM_006772.3(SYNGAP1):c.2359C>T (p.Pro787Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2369C>G (p.Thr790Ser)
|
rs552867155
|
|
NM_006772.3(SYNGAP1):c.2393C>T (p.Pro798Leu)
|
rs369972072
|
|
NM_006772.3(SYNGAP1):c.2401G>A (p.Gly801Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2405G>A (p.Gly802Asp)
|
rs1581995501
|
|
NM_006772.3(SYNGAP1):c.2408A>G (p.Lys803Arg)
|
rs1761090399
|
|
NM_006772.3(SYNGAP1):c.2414T>C (p.Leu805Pro)
|
rs1761090775
|
|
NM_006772.3(SYNGAP1):c.2420A>G (p.Tyr807Cys)
|
|
|
NM_006772.3(SYNGAP1):c.2420A>T (p.Tyr807Phe)
|
rs1403610596
|
|
NM_006772.3(SYNGAP1):c.2443C>T (p.Arg815Cys)
|
rs1216243827
|
|
NM_006772.3(SYNGAP1):c.2459A>G (p.Tyr820Cys)
|
rs1761092262
|
|
NM_006772.3(SYNGAP1):c.2493G>C (p.Glu831Asp)
|
rs1478319019
|
|
NM_006772.3(SYNGAP1):c.249A>T (p.Arg83Ser)
|
rs1554119825
|
|
NM_006772.3(SYNGAP1):c.2502G>C (p.Met834Ile)
|
|
|
NM_006772.3(SYNGAP1):c.2503C>A (p.Leu835Met)
|
|
|
NM_006772.3(SYNGAP1):c.2514C>A (p.Asn838Lys)
|
rs1192656888
|
|
NM_006772.3(SYNGAP1):c.2518A>T (p.Ser840Cys)
|
|
|
NM_006772.3(SYNGAP1):c.2521G>A (p.Val841Met)
|
|
|
NM_006772.3(SYNGAP1):c.2548G>A (p.Gly850Arg)
|
|
|
NM_006772.3(SYNGAP1):c.2560C>T (p.Arg854Cys)
|
|
|
NM_006772.3(SYNGAP1):c.2561G>A (p.Arg854His)
|
rs1761094271
|
|
NM_006772.3(SYNGAP1):c.2573G>A (p.Ser858Asn)
|
rs746764816
|
|
NM_006772.3(SYNGAP1):c.2582C>T (p.Ser861Leu)
|
rs770969837
|
|
NM_006772.3(SYNGAP1):c.2608C>G (p.Leu870Val)
|
rs1761095997
|
|
NM_006772.3(SYNGAP1):c.2627C>T (p.Ser876Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2650C>T (p.Arg884Trp)
|
|
|
NM_006772.3(SYNGAP1):c.2651G>A (p.Arg884Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2657C>T (p.Ala886Val)
|
|
|
NM_006772.3(SYNGAP1):c.2669G>A (p.Arg890His)
|
rs369681579
|
|
NM_006772.3(SYNGAP1):c.2684G>A (p.Ser895Asn)
|
|
|
NM_006772.3(SYNGAP1):c.269T>A (p.Val90Glu)
|
rs1776944517
|
|
NM_006772.3(SYNGAP1):c.2702C>T (p.Ala901Val)
|
rs1356491362
|
|
NM_006772.3(SYNGAP1):c.2719A>T (p.Ser907Cys)
|
rs2151188832
|
|
NM_006772.3(SYNGAP1):c.2729G>C (p.Gly910Ala)
|
|
|
NM_006772.3(SYNGAP1):c.2753C>T (p.Ala918Val)
|
rs2151188913
|
|
NM_006772.3(SYNGAP1):c.2765G>A (p.Arg922Gln)
|
|
|
NM_006772.3(SYNGAP1):c.2768T>A (p.Ile923Asn)
|
rs1581996132
|
|
NM_006772.3(SYNGAP1):c.2809G>C (p.Asp937His)
|
|
|
NM_006772.3(SYNGAP1):c.2812G>A (p.Gly938Arg)
|
rs1761102209
|
|
NM_006772.3(SYNGAP1):c.2825C>T (p.Pro942Leu)
|
|
|
NM_006772.3(SYNGAP1):c.2855G>T (p.Gly952Val)
|
|
|
NM_006772.3(SYNGAP1):c.2867_2872dup (p.His957_His958insProHis)
|
rs2151189234
|
|
NM_006772.3(SYNGAP1):c.286G>A (p.Gly96Ser)
|
rs1776945245
|
|
NM_006772.3(SYNGAP1):c.2874CCA[7] (p.His965_His966dup)
|
rs762369615
|
|
NM_006772.3(SYNGAP1):c.2882_2899dup (p.His966_Arg967insHisHisHisHisHisHis)
|
|
|
NM_006772.3(SYNGAP1):c.291G>T (p.Glu97Asp)
|
rs2151134743
|
|
NM_006772.3(SYNGAP1):c.2924C>A (p.Thr975Asn)
|
rs747272398
|
|
NM_006772.3(SYNGAP1):c.2924C>T (p.Thr975Ile)
|
|
|
NM_006772.3(SYNGAP1):c.2935T>C (p.Phe979Leu)
|
rs1761107036
|
|
NM_006772.3(SYNGAP1):c.2954G>A (p.Ser985Asn)
|
|
|
NM_006772.3(SYNGAP1):c.2960A>G (p.Asp987Gly)
|
rs2151189518
|
|
NM_006772.3(SYNGAP1):c.2962C>T (p.Leu988Phe)
|
rs1761107702
|
|
NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg)
|
rs145472959
|
|
NM_006772.3(SYNGAP1):c.2987C>G (p.Pro996Arg)
|
|
|
NM_006772.3(SYNGAP1):c.2989G>A (p.Ala997Thr)
|
|
|
NM_006772.3(SYNGAP1):c.2998A>G (p.Ile1000Val)
|
|
|
NM_006772.3(SYNGAP1):c.29G>A (p.Arg10Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3023A>G (p.Asp1008Gly)
|
|
|
NM_006772.3(SYNGAP1):c.304T>G (p.Leu102Val)
|
|
|
NM_006772.3(SYNGAP1):c.3053C>T (p.Thr1018Ile)
|
|
|
NM_006772.3(SYNGAP1):c.3059G>T (p.Arg1020Leu)
|
rs1210998685
|
|
NM_006772.3(SYNGAP1):c.3092T>C (p.Met1031Thr)
|
rs1554122297
|
|
NM_006772.3(SYNGAP1):c.3103C>A (p.Pro1035Thr)
|
|
|
NM_006772.3(SYNGAP1):c.3119G>T (p.Gly1040Val)
|
rs1761112588
|
|
NM_006772.3(SYNGAP1):c.3125A>G (p.Gln1042Arg)
|
|
|
NM_006772.3(SYNGAP1):c.313T>C (p.Ser105Pro)
|
|
|
NM_006772.3(SYNGAP1):c.3142G>C (p.Gly1048Arg)
|
|
|
NM_006772.3(SYNGAP1):c.314C>T (p.Ser105Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3156_3167dup (p.1053SGGG[3])
|
rs1321244643
|
|
NM_006772.3(SYNGAP1):c.3161G>A (p.Gly1054Asp)
|
|
|
NM_006772.3(SYNGAP1):c.3178G>A (p.Gly1060Ser)
|
rs766124746
|
|
NM_006772.3(SYNGAP1):c.3184G>A (p.Gly1062Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3209_3210delinsCA (p.Arg1070Thr)
|
|
|
NM_006772.3(SYNGAP1):c.3223C>A (p.Gln1075Lys)
|
|
|
NM_006772.3(SYNGAP1):c.3233T>A (p.Val1078Asp)
|
|
|
NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr)
|
rs1200128322
|
|
NM_006772.3(SYNGAP1):c.3238G>T (p.Ala1080Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3250C>G (p.Pro1084Ala)
|
|
|
NM_006772.3(SYNGAP1):c.3260C>T (p.Ser1087Phe)
|
|
|
NM_006772.3(SYNGAP1):c.3262A>G (p.Ser1088Gly)
|
|
|
NM_006772.3(SYNGAP1):c.3304G>C (p.Ala1102Pro)
|
|
|
NM_006772.3(SYNGAP1):c.3307C>T (p.Arg1103Cys)
|
|
|
NM_006772.3(SYNGAP1):c.3308G>T (p.Arg1103Leu)
|
rs764952741
|
|
NM_006772.3(SYNGAP1):c.3314G>A (p.Arg1105Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3323G>T (p.Ser1108Ile)
|
|
|
NM_006772.3(SYNGAP1):c.3338G>A (p.Gly1113Asp)
|
|
|
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[1] (p.1118SGG[1])
|
rs761763671
|
|
NM_006772.3(SYNGAP1):c.3363_3371del (p.Ser1121_Gly1124delinsArg)
|
|
|
NM_006772.3(SYNGAP1):c.3369_3380del (p.Gly1125_Gly1128del)
|
rs2151191080
|
|
NM_006772.3(SYNGAP1):c.3376G>T (p.Gly1126Cys)
|
rs1554122390
|
|
NM_006772.3(SYNGAP1):c.3377G>A (p.Gly1126Asp)
|
|
|
NM_006772.3(SYNGAP1):c.3379G>A (p.Gly1127Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3379G>C (p.Gly1127Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3380G>T (p.Gly1127Val)
|
rs777482147
|
|
NM_006772.3(SYNGAP1):c.3386T>C (p.Leu1129Pro)
|
rs1581997279
|
|
NM_006772.3(SYNGAP1):c.3434A>G (p.Asn1145Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3442A>T (p.Met1148Leu)
|
rs765741734
|
|
NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu)
|
rs875989808
|
|
NM_006772.3(SYNGAP1):c.3502A>G (p.Ile1168Val)
|
rs1761140471
|
|
NM_006772.3(SYNGAP1):c.3511G>A (p.Ala1171Thr)
|
|
|
NM_006772.3(SYNGAP1):c.3520G>A (p.Glu1174Lys)
|
|
|
NM_006772.3(SYNGAP1):c.3529G>A (p.Glu1177Lys)
|
rs1554122475
|
|
NM_006772.3(SYNGAP1):c.3582+3A>T
|
rs2151193232
|
|
NM_006772.3(SYNGAP1):c.3582+5G>A
|
rs1323082596
|
|
NM_006772.3(SYNGAP1):c.3595G>A (p.Glu1199Lys)
|
rs776835472
|
|
NM_006772.3(SYNGAP1):c.3607C>G (p.His1203Asp)
|
rs1430136718
|
|
NM_006772.3(SYNGAP1):c.3640C>T (p.Arg1214Trp)
|
rs2151199384
|
|
NM_006772.3(SYNGAP1):c.3653A>T (p.Glu1218Val)
|
rs1761210278
|
|
NM_006772.3(SYNGAP1):c.3655T>C (p.Tyr1219His)
|
|
|
NM_006772.3(SYNGAP1):c.36C>G (p.Ser12Arg)
|
|
|
NM_006772.3(SYNGAP1):c.371C>T (p.Ala124Val)
|
rs776125498
|
|
NM_006772.3(SYNGAP1):c.373C>T (p.Pro125Ser)
|
rs1287359701
|
|
NM_006772.3(SYNGAP1):c.3793A>C (p.Arg1265=)
|
|
|
NM_006772.3(SYNGAP1):c.380G>A (p.Arg127Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3820C>T (p.Arg1274Cys)
|
rs1060503385
|
|
NM_006772.3(SYNGAP1):c.3824G>A (p.Arg1275Gln)
|
|
|
NM_006772.3(SYNGAP1):c.382C>A (p.Pro128Thr)
|
|
|
NM_006772.3(SYNGAP1):c.3835G>A (p.Ala1279Thr)
|
rs1165427519
|
|
NM_006772.3(SYNGAP1):c.3846G>C (p.Glu1282Asp)
|
rs1284299637
|
|
NM_006772.3(SYNGAP1):c.388-3C>G
|
rs1448169616
|
|
NM_006772.3(SYNGAP1):c.388-4C>A
|
|
|
NM_006772.3(SYNGAP1):c.3902C>A (p.Pro1301His)
|
rs199694815
|
|
NM_006772.3(SYNGAP1):c.3902C>G (p.Pro1301Arg)
|
|
|
NM_006772.3(SYNGAP1):c.3903dup (p.Pro1304fs)
|
rs1761346213
|
|
NM_006772.3(SYNGAP1):c.3920C>T (p.Pro1307Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3923G>A (p.Arg1308His)
|
|
|
NM_006772.3(SYNGAP1):c.3958C>T (p.Pro1320Ser)
|
rs1554123292
|
|
NM_006772.3(SYNGAP1):c.3974C>T (p.Pro1325Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3977C>A (p.Pro1326Gln)
|
|
|
NM_006772.3(SYNGAP1):c.3977C>T (p.Pro1326Leu)
|
rs781281192
|
|
NM_006772.3(SYNGAP1):c.3979C>T (p.Pro1327Ser)
|
rs1582006629
|
|
NM_006772.3(SYNGAP1):c.3980C>T (p.Pro1327Leu)
|
|
|
NM_006772.3(SYNGAP1):c.3983G>A (p.Arg1328Gln)
|
|
|
NM_006772.3(SYNGAP1):c.401G>A (p.Ser134Asn)
|
|
|
NM_006772.3(SYNGAP1):c.4021G>T (p.Ala1341Ser)
|
|
|
NM_006772.3(SYNGAP1):c.406C>T (p.Arg136Trp)
|
rs1777195467
|
|
NM_006772.3(SYNGAP1):c.407G>C (p.Arg136Pro)
|
rs759426721
|
|
NM_006772.3(SYNGAP1):c.416G>A (p.Ser139Asn)
|
|
|
NM_006772.3(SYNGAP1):c.43G>A (p.Ala15Thr)
|
|
|
NM_006772.3(SYNGAP1):c.470G>A (p.Arg157His)
|
|
|
NM_006772.3(SYNGAP1):c.484C>G (p.Arg162Gly)
|
|
|
NM_006772.3(SYNGAP1):c.505G>A (p.Asp169Asn)
|
rs1581980479
|
|
NM_006772.3(SYNGAP1):c.526A>G (p.Ser176Gly)
|
|
|
NM_006772.3(SYNGAP1):c.53A>G (p.Tyr18Cys)
|
|
|
NM_006772.3(SYNGAP1):c.597C>A (p.Asn199Lys)
|
|
|
NM_006772.3(SYNGAP1):c.59C>G (p.Pro20Arg)
|
rs1562867414
|
|
NM_006772.3(SYNGAP1):c.59C>T (p.Pro20Leu)
|
rs1562867414
|
|
NM_006772.3(SYNGAP1):c.600G>C (p.Leu200Phe)
|
rs1777298292
|
|
NM_006772.3(SYNGAP1):c.663+4C>G
|
|
|
NM_006772.3(SYNGAP1):c.667A>G (p.Thr223Ala)
|
rs1435943982
|
|
NM_006772.3(SYNGAP1):c.68-3C>T
|
|
|
NM_006772.3(SYNGAP1):c.700C>T (p.Arg234Trp)
|
rs1777306036
|
|
NM_006772.3(SYNGAP1):c.73C>T (p.Arg25Trp)
|
|
|
NM_006772.3(SYNGAP1):c.742C>T (p.Arg248Trp)
|
rs1777307682
|
|
NM_006772.3(SYNGAP1):c.762G>C (p.Lys254Asn)
|
rs1777308288
|
|
NM_006772.3(SYNGAP1):c.775C>T (p.Arg259Trp)
|
|
|
NM_006772.3(SYNGAP1):c.860A>C (p.Asp287Ala)
|
|
|
NM_006772.3(SYNGAP1):c.86T>C (p.Met29Thr)
|
rs1273250249
|
|
NM_006772.3(SYNGAP1):c.872A>G (p.Tyr291Cys)
|
|
|
NM_006772.3(SYNGAP1):c.886T>G (p.Ser296Ala)
|
rs1554121193
|
|
NM_006772.3(SYNGAP1):c.88C>T (p.His30Tyr)
|
rs1776861012
|
|
NM_006772.3(SYNGAP1):c.901G>A (p.Ala301Thr)
|
rs1581987146
|
|
NM_006772.3(SYNGAP1):c.910G>A (p.Asp304Asn)
|
|
|
NM_006772.3(SYNGAP1):c.917T>A (p.Val306Asp)
|
|
|
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)
|
rs1554121206
|
|
NM_006772.3(SYNGAP1):c.92G>A (p.Arg31Gln)
|
|
|
NM_006772.3(SYNGAP1):c.953C>T (p.Pro318Leu)
|
rs780238395
|
|
NM_006772.3(SYNGAP1):c.958G>C (p.Val320Leu)
|
rs1760891716
|
|
NM_006772.3(SYNGAP1):c.962G>A (p.Arg321His)
|
|
|
NM_006772.3(SYNGAP1):c.971G>A (p.Arg324Gln)
|
|
|
NM_006772.3(SYNGAP1):c.986G>A (p.Arg329His)
|
|
|