ClinVar Miner

List of variants in gene SYNGAP1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1087
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) rs411136 0.40227
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963 0.07295
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477 0.05793
NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr) rs191549504 0.00927
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798 0.00417
NM_006772.3(SYNGAP1):c.3273A>G (p.Leu1091=) rs145707539 0.00216
NM_006772.3(SYNGAP1):c.3582+7T>C rs370618729 0.00193
NM_006772.3(SYNGAP1):c.1803G>A (p.Ala601=) rs77934848 0.00134
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly) rs139759084 0.00108
NM_006772.3(SYNGAP1):c.296-8C>T rs201145910 0.00096
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477 0.00082
NM_006772.3(SYNGAP1):c.3297T>C (p.Tyr1099=) rs149016890 0.00082
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=) rs145694123 0.00071
NM_006772.3(SYNGAP1):c.1935T>C (p.Phe645=) rs145406441 0.00059
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529 0.00059
NM_006772.3(SYNGAP1):c.1581C>T (p.Asp527=) rs202178663 0.00034
NM_006772.3(SYNGAP1):c.102C>T (p.Tyr34=) rs147913000 0.00029
NM_006772.3(SYNGAP1):c.1136C>T (p.Ser379Leu) rs371883908 0.00027
NM_006772.3(SYNGAP1):c.1677-9T>C rs754389007 0.00027
NM_006772.3(SYNGAP1):c.2658G>A (p.Ala886=) rs149467343 0.00024
NM_006772.3(SYNGAP1):c.2016G>A (p.Thr672=) rs57365292 0.00020
NM_006772.3(SYNGAP1):c.1446C>A (p.Leu482=) rs370597423 0.00016
NM_006772.3(SYNGAP1):c.3495G>A (p.Ser1165=) rs200386206 0.00016
NM_006772.3(SYNGAP1):c.1884G>A (p.Lys628=) rs140022772 0.00015
NM_006772.3(SYNGAP1):c.3963A>T (p.Pro1321=) rs764754365 0.00012
NM_006772.3(SYNGAP1):c.447A>G (p.Lys149=) rs544817923 0.00012
NM_006772.3(SYNGAP1):c.1455C>T (p.Arg485=) rs201107225 0.00011
NM_006772.3(SYNGAP1):c.1575G>A (p.Glu525=) rs139050190 0.00011
NM_006772.3(SYNGAP1):c.2336+19C>T rs374383698 0.00011
NM_006772.3(SYNGAP1):c.2337-10C>G rs371436958 0.00011
NM_006772.3(SYNGAP1):c.1158G>A (p.Gly386=) rs1443802147 0.00010
NM_006772.3(SYNGAP1):c.1812G>A (p.Ser604=) rs149727287 0.00009
NM_006772.3(SYNGAP1):c.2664C>T (p.Ala888=) rs759995681 0.00009
NM_006772.3(SYNGAP1):c.2242C>T (p.Leu748=) rs377301201 0.00008
NM_006772.3(SYNGAP1):c.3364G>A (p.Gly1122Ser) rs755386745 0.00008
NM_006772.3(SYNGAP1):c.228C>T (p.Ser76=) rs147049139 0.00007
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=) rs375587730 0.00007
NM_006772.3(SYNGAP1):c.1311C>T (p.Pro437=) rs777952612 0.00006
NM_006772.3(SYNGAP1):c.1532-5C>G rs928381854 0.00006
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser) rs775566992 0.00006
NM_006772.3(SYNGAP1):c.2125C>T (p.Leu709=) rs543705054 0.00006
NM_006772.3(SYNGAP1):c.2394G>A (p.Pro798=) rs138404495 0.00006
NM_006772.3(SYNGAP1):c.2742C>T (p.Asp914=) rs534933618 0.00006
NM_006772.3(SYNGAP1):c.3045T>C (p.Thr1015=) rs753746117 0.00006
NM_006772.3(SYNGAP1):c.3583-7C>T rs748161838 0.00006
NM_006772.3(SYNGAP1):c.4021G>A (p.Ala1341Thr) rs771224281 0.00006
NM_006772.3(SYNGAP1):c.2388A>G (p.Pro796=) rs756541754 0.00005
NM_006772.3(SYNGAP1):c.2436C>T (p.Pro812=) rs774728632 0.00005
NM_006772.3(SYNGAP1):c.2840G>C (p.Gly947Ala) rs553102986 0.00005
NM_006772.3(SYNGAP1):c.2845G>A (p.Gly949Ser) rs141341400 0.00005
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe) rs753575634 0.00005
NM_006772.3(SYNGAP1):c.3564T>C (p.Asp1188=) rs775322599 0.00005
NM_006772.3(SYNGAP1):c.3603G>A (p.Glu1201=) rs759691617 0.00005
NM_006772.3(SYNGAP1):c.1137G>A (p.Ser379=) rs1471355033 0.00004
NM_006772.3(SYNGAP1):c.1198G>C (p.Val400Leu) rs201020155 0.00004
NM_006772.3(SYNGAP1):c.1305G>A (p.Leu435=) rs776326092 0.00004
NM_006772.3(SYNGAP1):c.1604G>C (p.Ser535Thr) rs750770222 0.00004
NM_006772.3(SYNGAP1):c.1653G>C (p.Leu551=) rs768223757 0.00004
NM_006772.3(SYNGAP1):c.1677-15G>A rs766593480 0.00004
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His) rs758932190 0.00004
NM_006772.3(SYNGAP1):c.2111G>A (p.Ser704Asn) rs775884756 0.00004
NM_006772.3(SYNGAP1):c.2409A>G (p.Lys803=) rs770750501 0.00004
NM_006772.3(SYNGAP1):c.2681G>A (p.Gly894Glu) rs1761098256 0.00004
NM_006772.3(SYNGAP1):c.2710A>G (p.Met904Val) rs748165064 0.00004
NM_006772.3(SYNGAP1):c.3156G>A (p.Gly1052=) rs764849812 0.00004
NM_006772.3(SYNGAP1):c.3264C>T (p.Ser1088=) rs779570828 0.00004
NM_006772.3(SYNGAP1):c.3354C>T (p.Ser1118=) rs756351837 0.00004
NM_006772.3(SYNGAP1):c.3795-10G>A rs1176345733 0.00004
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=) rs555363112 0.00004
NM_006772.3(SYNGAP1):c.388-20C>T rs541592785 0.00004
NM_006772.3(SYNGAP1):c.3886-10T>C rs746981989 0.00004
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala) rs749376396 0.00004
NM_006772.3(SYNGAP1):c.3942G>A (p.Pro1314=) rs372190836 0.00004
NM_006772.3(SYNGAP1):c.501C>T (p.Asp167=) rs138286163 0.00004
NM_006772.3(SYNGAP1):c.773G>A (p.Arg258His) rs538281267 0.00004
NM_006772.3(SYNGAP1):c.1771G>A (p.Ala591Thr) rs946029100 0.00003
NM_006772.3(SYNGAP1):c.1888A>G (p.Ile630Val) rs192497085 0.00003
NM_006772.3(SYNGAP1):c.2295-19del rs769960016 0.00003
NM_006772.3(SYNGAP1):c.2362T>A (p.Ser788Thr) rs201062426 0.00003
NM_006772.3(SYNGAP1):c.2369C>A (p.Thr790Asn) rs552867155 0.00003
NM_006772.3(SYNGAP1):c.2381C>T (p.Pro794Leu) rs375837477 0.00003
NM_006772.3(SYNGAP1):c.2520T>C (p.Ser840=) rs778341826 0.00003
NM_006772.3(SYNGAP1):c.2628G>A (p.Ser876=) rs773687127 0.00003
NM_006772.3(SYNGAP1):c.2669G>C (p.Arg890Pro) rs369681579 0.00003
NM_006772.3(SYNGAP1):c.2695A>G (p.Ile899Val) rs143862418 0.00003
NM_006772.3(SYNGAP1):c.2699C>T (p.Thr900Met) rs751157497 0.00003
NM_006772.3(SYNGAP1):c.295+9G>C rs1776945472 0.00003
NM_006772.3(SYNGAP1):c.3054C>G (p.Thr1018=) rs754909607 0.00003
NM_006772.3(SYNGAP1):c.3175G>A (p.Gly1059Arg) rs371016945 0.00003
NM_006772.3(SYNGAP1):c.3355G>A (p.Gly1119Arg) rs927915520 0.00003
NM_006772.3(SYNGAP1):c.33G>T (p.Gly11=) rs749949430 0.00003
NM_006772.3(SYNGAP1):c.3849G>A (p.Pro1283=) rs1014733325 0.00003
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp) rs139853969 0.00003
NM_006772.3(SYNGAP1):c.4002C>T (p.Asn1334=) rs201509029 0.00003
NM_006772.3(SYNGAP1):c.1160G>T (p.Gly387Val) rs539316061 0.00002
NM_006772.3(SYNGAP1):c.1191C>T (p.Cys397=) rs1554121262 0.00002
NM_006772.3(SYNGAP1):c.1248A>G (p.Leu416=) rs749336514 0.00002
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp) rs748333558 0.00002
NM_006772.3(SYNGAP1):c.1286G>A (p.Arg429Gln) rs772336493 0.00002
NM_006772.3(SYNGAP1):c.1572C>T (p.Cys524=) rs763080466 0.00002
NM_006772.3(SYNGAP1):c.166C>T (p.Leu56=) rs756521441 0.00002
NM_006772.3(SYNGAP1):c.1677-4C>G rs538524761 0.00002
NM_006772.3(SYNGAP1):c.1677-8C>T rs755438249 0.00002
NM_006772.3(SYNGAP1):c.1862G>A (p.Arg621Gln) rs756823385 0.00002
NM_006772.3(SYNGAP1):c.2095G>A (p.Val699Met) rs902954541 0.00002
NM_006772.3(SYNGAP1):c.2118A>G (p.Glu706=) rs149131236 0.00002
NM_006772.3(SYNGAP1):c.2256G>A (p.Ser752=) rs373755298 0.00002
NM_006772.3(SYNGAP1):c.2316C>T (p.Phe772=) rs182565988 0.00002
NM_006772.3(SYNGAP1):c.2361C>T (p.Pro787=) rs775679543 0.00002
NM_006772.3(SYNGAP1):c.2418C>T (p.Phe806=) rs764203322 0.00002
NM_006772.3(SYNGAP1):c.2591C>T (p.Ala864Val) rs1581995772 0.00002
NM_006772.3(SYNGAP1):c.2700G>A (p.Thr900=) rs757132718 0.00002
NM_006772.3(SYNGAP1):c.2704G>A (p.Ala902Thr) rs148703943 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.2830G>A (p.Gly944Ser) rs765718674 0.00002
NM_006772.3(SYNGAP1):c.2888A>G (p.His963Arg) rs777418257 0.00002
NM_006772.3(SYNGAP1):c.2900G>A (p.Arg967Gln) rs557096495 0.00002
NM_006772.3(SYNGAP1):c.3055C>T (p.Arg1019Cys) rs777763120 0.00002
NM_006772.3(SYNGAP1):c.3056G>A (p.Arg1019His) rs747078316 0.00002
NM_006772.3(SYNGAP1):c.3160G>A (p.Gly1054Ser) rs774066129 0.00002
NM_006772.3(SYNGAP1):c.3172G>A (p.Gly1058Ser) rs767071930 0.00002
NM_006772.3(SYNGAP1):c.3181G>T (p.Gly1061Cys) rs753645263 0.00002
NM_006772.3(SYNGAP1):c.3303C>T (p.Pro1101=) rs776355446 0.00002
NM_006772.3(SYNGAP1):c.3380G>C (p.Gly1127Ala) rs777482147 0.00002
NM_006772.3(SYNGAP1):c.3397A>G (p.Ile1133Val) rs746524469 0.00002
NM_006772.3(SYNGAP1):c.3558G>A (p.Ser1186=) rs769414725 0.00002
NM_006772.3(SYNGAP1):c.372G>A (p.Ala124=) rs748895452 0.00002
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln) rs747376669 0.00002
NM_006772.3(SYNGAP1):c.407G>A (p.Arg136Gln) rs759426721 0.00002
NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=) rs765193793 0.00002
NM_006772.3(SYNGAP1):c.582G>A (p.Glu194=) rs769637893 0.00002
NM_006772.3(SYNGAP1):c.786T>C (p.Asn262=) rs755664512 0.00002
NM_006772.3(SYNGAP1):c.1025A>G (p.Tyr342Cys) rs777562660 0.00001
NM_006772.3(SYNGAP1):c.1029C>T (p.Val343=) rs1458773044 0.00001
NM_006772.3(SYNGAP1):c.1066C>T (p.Arg356Cys) rs144778033 0.00001
NM_006772.3(SYNGAP1):c.1108G>A (p.Gly370Ser) rs1760895701 0.00001
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu) rs764259746 0.00001
NM_006772.3(SYNGAP1):c.1146A>G (p.Gly382=) rs1385235040 0.00001
NM_006772.3(SYNGAP1):c.1155G>A (p.Ser385=) rs753355335 0.00001
NM_006772.3(SYNGAP1):c.1214G>A (p.Arg405His) rs757140336 0.00001
NM_006772.3(SYNGAP1):c.121C>T (p.Arg41Cys) rs762142487 0.00001
NM_006772.3(SYNGAP1):c.1224A>G (p.Thr408=) rs780138803 0.00001
NM_006772.3(SYNGAP1):c.1251T>C (p.Tyr417=) rs755250466 0.00001
NM_006772.3(SYNGAP1):c.1312G>A (p.Ala438Thr) rs765011916 0.00001
NM_006772.3(SYNGAP1):c.1350A>G (p.Ala450=) rs751331097 0.00001
NM_006772.3(SYNGAP1):c.1416G>A (p.Glu472=) rs774181787 0.00001
NM_006772.3(SYNGAP1):c.1441C>T (p.His481Tyr) rs760611173 0.00001
NM_006772.3(SYNGAP1):c.1461C>T (p.Asn487=) rs1182407212 0.00001
NM_006772.3(SYNGAP1):c.1531+8C>T rs368508871 0.00001
NM_006772.3(SYNGAP1):c.163C>A (p.Gln55Lys) rs752176449 0.00001
NM_006772.3(SYNGAP1):c.1676+14C>T rs747828691 0.00001
NM_006772.3(SYNGAP1):c.1677-12C>A rs975458793 0.00001
NM_006772.3(SYNGAP1):c.1723C>T (p.Arg575Cys) rs758101067 0.00001
NM_006772.3(SYNGAP1):c.1728C>T (p.Cys576=) rs576589974 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.1770C>T (p.Ser590=) rs571865766 0.00001
NM_006772.3(SYNGAP1):c.1783C>T (p.Leu595=) rs761973471 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.1842C>T (p.Tyr614=) rs1183805417 0.00001
NM_006772.3(SYNGAP1):c.1878T>C (p.Ile626=) rs1354630489 0.00001
NM_006772.3(SYNGAP1):c.190-7C>T rs753440517 0.00001
NM_006772.3(SYNGAP1):c.190-8T>C rs1456594190 0.00001
NM_006772.3(SYNGAP1):c.1914-18T>G rs777956700 0.00001
NM_006772.3(SYNGAP1):c.1920C>T (p.Thr640=) rs1189021984 0.00001
NM_006772.3(SYNGAP1):c.1962G>A (p.Glu654=) rs373857862 0.00001
NM_006772.3(SYNGAP1):c.1977C>T (p.Ser659=) rs1228056538 0.00001
NM_006772.3(SYNGAP1):c.2017C>T (p.Leu673=) rs1160089875 0.00001
NM_006772.3(SYNGAP1):c.2022C>A (p.Thr674=) rs751139115 0.00001
NM_006772.3(SYNGAP1):c.2116-4C>G rs925997309 0.00001
NM_006772.3(SYNGAP1):c.2157C>T (p.Asn719=) rs559061651 0.00001
NM_006772.3(SYNGAP1):c.2195G>A (p.Arg732Lys) rs934177451 0.00001
NM_006772.3(SYNGAP1):c.2214T>C (p.Ser738=) rs1243545018 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.2301C>T (p.Ile767=) rs775210377 0.00001
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln) rs761691865 0.00001
NM_006772.3(SYNGAP1):c.2352T>C (p.Ala784=) rs1286625722 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.244C>T (p.Leu82=) rs1429126574 0.00001
NM_006772.3(SYNGAP1):c.2460C>T (p.Tyr820=) rs756696815 0.00001
NM_006772.3(SYNGAP1):c.2466G>A (p.Thr822=) rs145297490 0.00001
NM_006772.3(SYNGAP1):c.2487G>A (p.Glu829=) rs1313871439 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.255A>G (p.Thr85=) rs1406860949 0.00001
NM_006772.3(SYNGAP1):c.2565C>T (p.Leu855=) rs752424744 0.00001
NM_006772.3(SYNGAP1):c.2568C>T (p.Asn856=) rs137894267 0.00001
NM_006772.3(SYNGAP1):c.2592G>A (p.Ala864=) rs989713108 0.00001
NM_006772.3(SYNGAP1):c.2595C>T (p.Ala865=) rs745742397 0.00001
NM_006772.3(SYNGAP1):c.2596G>T (p.Val866Leu) rs768878991 0.00001
NM_006772.3(SYNGAP1):c.2668C>T (p.Arg890Cys) rs1761097804 0.00001
NM_006772.3(SYNGAP1):c.2703G>A (p.Ala901=) rs769826724 0.00001
NM_006772.3(SYNGAP1):c.2713C>T (p.Arg905Cys) rs992305960 0.00001
NM_006772.3(SYNGAP1):c.2760A>G (p.Gln920=) rs1466615976 0.00001
NM_006772.3(SYNGAP1):c.280C>T (p.Pro94Ser) rs773668772 0.00001
NM_006772.3(SYNGAP1):c.2811T>C (p.Asp937=) rs1449497761 0.00001
NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu) rs752316341 0.00001
NM_006772.3(SYNGAP1):c.2844C>T (p.Gly948=) rs753093321 0.00001
NM_006772.3(SYNGAP1):c.2881C>T (p.His961Tyr) rs756181133 0.00001
NM_006772.3(SYNGAP1):c.28C>A (p.Arg10=) rs1167492483 0.00001
NM_006772.3(SYNGAP1):c.2910G>A (p.Glu970=) rs1060504899 0.00001
NM_006772.3(SYNGAP1):c.2943C>T (p.Gly981=) rs202074092 0.00001
NM_006772.3(SYNGAP1):c.2967T>C (p.Ser989=) rs1337054733 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.3039T>C (p.Ser1013=) rs766146054 0.00001
NM_006772.3(SYNGAP1):c.3114C>T (p.Thr1038=) rs746033927 0.00001
NM_006772.3(SYNGAP1):c.3171C>T (p.Ser1057=) rs761405990 0.00001
NM_006772.3(SYNGAP1):c.3176G>C (p.Gly1059Ala) rs567475546 0.00001
NM_006772.3(SYNGAP1):c.3179G>T (p.Gly1060Val) rs1422793438 0.00001
NM_006772.3(SYNGAP1):c.3183C>T (p.Gly1061=) rs759449351 0.00001
NM_006772.3(SYNGAP1):c.3195G>A (p.Pro1065=) rs752562193 0.00001
NM_006772.3(SYNGAP1):c.3197C>T (p.Pro1066Leu) rs757344392 0.00001
NM_006772.3(SYNGAP1):c.3198T>G (p.Pro1066=) rs781201249 0.00001
NM_006772.3(SYNGAP1):c.323A>G (p.Lys108Arg) rs1045348270 0.00001
NM_006772.3(SYNGAP1):c.3282C>T (p.Ser1094=) rs771736819 0.00001
NM_006772.3(SYNGAP1):c.3304G>A (p.Ala1102Thr) rs759377340 0.00001
NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His) rs764952741 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.3369C>T (p.Gly1123=) rs779377737 0.00001
NM_006772.3(SYNGAP1):c.3370G>A (p.Gly1124Arg) rs748702892 0.00001
NM_006772.3(SYNGAP1):c.3572G>A (p.Arg1191Gln) rs574603811 0.00001
NM_006772.3(SYNGAP1):c.3582+4C>T rs376752755 0.00001
NM_006772.3(SYNGAP1):c.3582+6A>C rs768094841 0.00001
NM_006772.3(SYNGAP1):c.3583-18C>T rs1343189146 0.00001
NM_006772.3(SYNGAP1):c.3583-3C>T rs771888857 0.00001
NM_006772.3(SYNGAP1):c.3583-4G>A rs1761207395 0.00001
NM_006772.3(SYNGAP1):c.3594C>T (p.Tyr1198=) rs1007979214 0.00001
NM_006772.3(SYNGAP1):c.3624G>C (p.Arg1208=) rs1476852507 0.00001
NM_006772.3(SYNGAP1):c.3662G>A (p.Arg1221Gln) rs906055922 0.00001
NM_006772.3(SYNGAP1):c.3780G>A (p.Lys1260=) rs993798547 0.00001
NM_006772.3(SYNGAP1):c.3794+9C>T rs754561020 0.00001
NM_006772.3(SYNGAP1):c.3795-11C>T rs1213528217 0.00001
NM_006772.3(SYNGAP1):c.3848C>T (p.Pro1283Leu) rs1396355432 0.00001
NM_006772.3(SYNGAP1):c.387+16C>G rs760453243 0.00001
NM_006772.3(SYNGAP1):c.3886-5T>C rs1215747659 0.00001
NM_006772.3(SYNGAP1):c.3922C>T (p.Arg1308Cys) rs918621494 0.00001
NM_006772.3(SYNGAP1):c.393C>T (p.Gly131=) rs747021068 0.00001
NM_006772.3(SYNGAP1):c.3995C>T (p.Thr1332Met) rs779015339 0.00001
NM_006772.3(SYNGAP1):c.4006G>A (p.Glu1336Lys) rs1226494061 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.591G>A (p.Glu197=) rs1777297993 0.00001
NM_006772.3(SYNGAP1):c.5G>A (p.Ser2Asn) rs767981313 0.00001
NM_006772.3(SYNGAP1):c.603T>G (p.Asp201Glu) rs768682743 0.00001
NM_006772.3(SYNGAP1):c.627G>A (p.Val209=) rs1024950590 0.00001
NM_006772.3(SYNGAP1):c.664-13C>T rs1272035734 0.00001
NM_006772.3(SYNGAP1):c.67+20G>T rs1291904263 0.00001
NM_006772.3(SYNGAP1):c.680G>A (p.Gly227Glu) rs1025271834 0.00001
NM_006772.3(SYNGAP1):c.723A>G (p.Lys241=) rs780035236 0.00001
NM_006772.3(SYNGAP1):c.763-5G>A rs1454552998 0.00001
NM_006772.3(SYNGAP1):c.76G>A (p.Gly26Arg) rs1554304652 0.00001
NM_006772.3(SYNGAP1):c.78A>C (p.Gly26=) rs773184002 0.00001
NM_006772.3(SYNGAP1):c.82T>C (p.Ser28Pro) rs1776860607 0.00001
NM_006772.3(SYNGAP1):c.895C>T (p.Arg299Cys) rs1760889495 0.00001
NM_006772.3(SYNGAP1):c.896G>A (p.Arg299His) rs1385831038 0.00001
NM_006772.3(SYNGAP1):c.913A>G (p.Thr305Ala) rs1226093664 0.00001
NM_006772.3(SYNGAP1):c.915C>T (p.Thr305=) rs370654601 0.00001
NM_006772.3(SYNGAP1):c.933C>T (p.His311=) rs1297876051 0.00001
NM_006772.3(SYNGAP1):c.939G>A (p.Glu313=) rs373371204 0.00001
NM_006772.3(SYNGAP1):c.970C>T (p.Arg324Trp) rs1760892056 0.00001
NC_000006.11:g.(?_33393555)_(33393700_?)dup
NC_000006.12:g.(?_33420245)_(33451926_?)del
NC_000006.12:g.(?_33435132)_(33438311_?)del
NC_000006.12:g.33423588ATGAGG[3] rs2151129780
NM_006772.3(SYNGAP1):c.1001del (p.Lys334fs) rs1561784687
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.1022_1023del (p.Gly341fs) rs2151169133
NM_006772.3(SYNGAP1):c.1025A>C (p.Tyr342Ser)
NM_006772.3(SYNGAP1):c.1027G>A (p.Val343Ile)
NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser) rs1760893537
NM_006772.3(SYNGAP1):c.1047A>G (p.Pro349=)
NM_006772.3(SYNGAP1):c.1053del (p.Thr352fs) rs1554121228
NM_006772.3(SYNGAP1):c.1057_1072del (p.Leu353fs)
NM_006772.3(SYNGAP1):c.1067G>A (p.Arg356His)
NM_006772.3(SYNGAP1):c.106C>T (p.His36Tyr)
NM_006772.3(SYNGAP1):c.1084T>C (p.Trp362Arg) rs1581987445
NM_006772.3(SYNGAP1):c.1094del (p.Val365fs) rs1581987476
NM_006772.3(SYNGAP1):c.1095A>T (p.Val365=) rs2151169348
NM_006772.3(SYNGAP1):c.1121C>A (p.Ser374Tyr)
NM_006772.3(SYNGAP1):c.1127del (p.Gly376fs) rs1760896816
NM_006772.3(SYNGAP1):c.1136C>A (p.Ser379Ter) rs371883908
NM_006772.3(SYNGAP1):c.1136C>G (p.Ser379Trp) rs371883908
NM_006772.3(SYNGAP1):c.1139del (p.Gly380fs) rs1760897529
NM_006772.3(SYNGAP1):c.1142G>T (p.Gly381Val)
NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter) rs1760897843
NM_006772.3(SYNGAP1):c.1147G>T (p.Gly383Trp)
NM_006772.3(SYNGAP1):c.114G>A (p.Pro38=) rs370803544
NM_006772.3(SYNGAP1):c.114G>T (p.Pro38=) rs370803544
NM_006772.3(SYNGAP1):c.1150G>A (p.Gly384Ser) rs1383773141
NM_006772.3(SYNGAP1):c.1153T>C (p.Ser385Pro)
NM_006772.3(SYNGAP1):c.1160dup (p.Gly388fs)
NM_006772.3(SYNGAP1):c.1164C>T (p.Gly388=)
NM_006772.3(SYNGAP1):c.1166C>A (p.Ser389Ter) rs2151169721
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1167del (p.Gly391fs)
NM_006772.3(SYNGAP1):c.1169G>A (p.Gly390Glu)
NM_006772.3(SYNGAP1):c.1172G>T (p.Gly391Val) rs759298823
NM_006772.3(SYNGAP1):c.117T>G (p.Tyr39Ter)
NM_006772.3(SYNGAP1):c.1193C>T (p.Pro398Leu)
NM_006772.3(SYNGAP1):c.1195G>A (p.Ala399Thr)
NM_006772.3(SYNGAP1):c.1202G>A (p.Arg401Gln)
NM_006772.3(SYNGAP1):c.1218C>T (p.Tyr406=)
NM_006772.3(SYNGAP1):c.1221G>T (p.Gln407His)
NM_006772.3(SYNGAP1):c.1231A>G (p.Ile411Val) rs2151169932
NM_006772.3(SYNGAP1):c.1235dup (p.Leu412fs) rs1561785003
NM_006772.3(SYNGAP1):c.1245G>A (p.Glu415=)
NM_006772.3(SYNGAP1):c.1256A>G (p.Glu419Gly)
NM_006772.3(SYNGAP1):c.1257G>A (p.Glu419=)
NM_006772.3(SYNGAP1):c.1260T>G (p.Phe420Leu) rs2151170025
NM_006772.3(SYNGAP1):c.1267del (p.Tyr423fs)
NM_006772.3(SYNGAP1):c.1273_1274del (p.Thr425fs) rs1760905766
NM_006772.3(SYNGAP1):c.1292T>C (p.Leu431Pro) rs1581987885
NM_006772.3(SYNGAP1):c.1303T>C (p.Leu435=) rs555077905
NM_006772.3(SYNGAP1):c.1304T>G (p.Leu435Trp) rs1554121281
NM_006772.3(SYNGAP1):c.1322T>C (p.Val441Ala)
NM_006772.3(SYNGAP1):c.1326A>G (p.Lys442=) rs2151170276
NM_006772.3(SYNGAP1):c.1341T>A (p.Val447=) rs2151170322
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.1374A>T (p.Thr458=) rs1760908952
NM_006772.3(SYNGAP1):c.1386+10del rs2151170476
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.1407C>T (p.Ala469=) rs1581988356
NM_006772.3(SYNGAP1):c.1408A>C (p.Met470Leu) rs1554121320
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.1440G>A (p.Glu480=)
NM_006772.3(SYNGAP1):c.1441_1444dup (p.Leu482fs)
NM_006772.3(SYNGAP1):c.1446C>T (p.Leu482=) rs370597423
NM_006772.3(SYNGAP1):c.1447A>G (p.Ile483Val)
NM_006772.3(SYNGAP1):c.1453C>T (p.Arg485Cys)
NM_006772.3(SYNGAP1):c.1453del (p.Arg485fs)
NM_006772.3(SYNGAP1):c.1456G>A (p.Glu486Lys) rs1554121336
NM_006772.3(SYNGAP1):c.1463C>T (p.Thr488Met)
NM_006772.3(SYNGAP1):c.1464G>A (p.Thr488=) rs778038638
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.1488G>A (p.Glu496=) rs1581988521
NM_006772.3(SYNGAP1):c.1490A>G (p.Tyr497Cys)
NM_006772.3(SYNGAP1):c.1498C>T (p.Leu500=) rs1581988553
NM_006772.3(SYNGAP1):c.1499T>C (p.Leu500Pro)
NM_006772.3(SYNGAP1):c.1531+19C>A
NM_006772.3(SYNGAP1):c.1531+9C>G rs2151171453
NM_006772.3(SYNGAP1):c.1532-12C>T
NM_006772.3(SYNGAP1):c.1532-13C>T
NM_006772.3(SYNGAP1):c.1532-1G>A rs1760930644
NM_006772.3(SYNGAP1):c.1532-20C>G
NM_006772.3(SYNGAP1):c.1532-20C>T
NM_006772.3(SYNGAP1):c.1532-3C>T
NM_006772.3(SYNGAP1):c.1534G>T (p.Glu512Ter) rs2151172286
NM_006772.3(SYNGAP1):c.1551G>C (p.Leu517=) rs2151172315
NM_006772.3(SYNGAP1):c.155C>T (p.Ser52Leu) rs1554304680
NM_006772.3(SYNGAP1):c.1564del (p.Glu522fs) rs2151172356
NM_006772.3(SYNGAP1):c.156G>A (p.Ser52=) rs1554304681
NM_006772.3(SYNGAP1):c.1593C>T (p.Cys531=)
NM_006772.3(SYNGAP1):c.1594A>C (p.Thr532Pro) rs2151172479
NM_006772.3(SYNGAP1):c.1610C>T (p.Ala537Val) rs895921108
NM_006772.3(SYNGAP1):c.1622C>G (p.Ala541Gly) rs2151172597
NM_006772.3(SYNGAP1):c.1625A>G (p.Asn542Ser) rs1760933953
NM_006772.3(SYNGAP1):c.1629G>A (p.Leu543=)
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.1631G>A (p.Arg544Gln)
NM_006772.3(SYNGAP1):c.1640G>A (p.Cys547Tyr) rs2151172652
NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer) rs2151172644
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.1667A>T (p.Asn556Ile)
NM_006772.3(SYNGAP1):c.1671C>T (p.Ser557=) rs2151172737
NM_006772.3(SYNGAP1):c.1676+15G>A
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006772.3(SYNGAP1):c.1676+5G>C rs1760935231
NM_006772.3(SYNGAP1):c.1676+7C>T
NM_006772.3(SYNGAP1):c.1677-11C>G
NM_006772.3(SYNGAP1):c.1677-12C>T rs975458793
NM_006772.3(SYNGAP1):c.1677-16C>G rs572784864
NM_006772.3(SYNGAP1):c.1677-16C>T rs572784864
NM_006772.3(SYNGAP1):c.1677-2A>G rs2151180361
NM_006772.3(SYNGAP1):c.1677-3C>G
NM_006772.3(SYNGAP1):c.1677-3del rs1381203371
NM_006772.3(SYNGAP1):c.1677-3dup rs1381203371
NM_006772.3(SYNGAP1):c.1677-8C>A
NM_006772.3(SYNGAP1):c.1678G>A (p.Val560Met)
NM_006772.3(SYNGAP1):c.1680G>A (p.Val560=)
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
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.1712C>A (p.Ser571Ter) rs1554121682
NM_006772.3(SYNGAP1):c.1715G>C (p.Trp572Ser) rs1554121684
NM_006772.3(SYNGAP1):c.1717C>A (p.Arg573=)
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1719G>C (p.Arg573=)
NM_006772.3(SYNGAP1):c.1721del (p.Leu574fs) rs1581991929
NM_006772.3(SYNGAP1):c.1725C>T (p.Arg575=)
NM_006772.3(SYNGAP1):c.1726T>C (p.Cys576Arg)
NM_006772.3(SYNGAP1):c.1728C>A (p.Cys576Ter)
NM_006772.3(SYNGAP1):c.1729G>A (p.Ala577Thr)
NM_006772.3(SYNGAP1):c.172A>G (p.Met58Val)
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.1742G>A (p.Arg581Gln) rs1761010170
NM_006772.3(SYNGAP1):c.1743G>A (p.Arg581=)
NM_006772.3(SYNGAP1):c.1744del (p.Glu582fs) rs1761010258
NM_006772.3(SYNGAP1):c.1752C>G (p.Ile584Met) rs1761010544
NM_006772.3(SYNGAP1):c.175C>T (p.Leu59=)
NM_006772.3(SYNGAP1):c.1767C>G (p.Ile589Met) rs1761011170
NM_006772.3(SYNGAP1):c.1768A>G (p.Ser590Gly)
NM_006772.3(SYNGAP1):c.1771G>C (p.Ala591Pro)
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) rs587780470
NM_006772.3(SYNGAP1):c.1784T>A (p.Leu595Gln)
NM_006772.3(SYNGAP1):c.1786C>T (p.Arg596Cys)
NM_006772.3(SYNGAP1):c.1787G>A (p.Arg596His)
NM_006772.3(SYNGAP1):c.1788C>T (p.Arg596=)
NM_006772.3(SYNGAP1):c.1792C>G (p.Leu598Val)
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu) rs1761012352
NM_006772.3(SYNGAP1):c.1802C>T (p.Ala601Val) rs1761012352
NM_006772.3(SYNGAP1):c.1803G>T (p.Ala601=)
NM_006772.3(SYNGAP1):c.1813C>T (p.Pro605Ser)
NM_006772.3(SYNGAP1):c.1821C>T (p.Leu607=) rs2151180907
NM_006772.3(SYNGAP1):c.1823_1824del (p.Phe608fs) rs1581992099
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) rs1060503386
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.1887C>T (p.Val629=) rs2151181047
NM_006772.3(SYNGAP1):c.189+15_189+16delinsGC rs2151129837
NM_006772.3(SYNGAP1):c.189+18G>C
NM_006772.3(SYNGAP1):c.189+1G>A
NM_006772.3(SYNGAP1):c.189+8_189+9del
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro) rs1761021165
NM_006772.3(SYNGAP1):c.190-12C>G
NM_006772.3(SYNGAP1):c.190-12del rs2151134386
NM_006772.3(SYNGAP1):c.190-14C>T
NM_006772.3(SYNGAP1):c.190-16C>T rs2151134381
NM_006772.3(SYNGAP1):c.190-2A>C rs1776941586
NM_006772.3(SYNGAP1):c.190-2A>G rs1776941586
NM_006772.3(SYNGAP1):c.1902del (p.Asn635fs) rs2151181087
NM_006772.3(SYNGAP1):c.1913+17G>T rs2151181173
NM_006772.3(SYNGAP1):c.1913+1G>A rs2151181124
NM_006772.3(SYNGAP1):c.1913+2_1913+5del rs2151181120
NM_006772.3(SYNGAP1):c.1913+5G>A rs1761021575
NM_006772.3(SYNGAP1):c.1913A>G (p.Lys638Arg)
NM_006772.3(SYNGAP1):c.1914-14G>C
NM_006772.3(SYNGAP1):c.1914-15T>G
NM_006772.3(SYNGAP1):c.1914-9C>A rs1761033033
NM_006772.3(SYNGAP1):c.1918A>T (p.Thr640Ser)
NM_006772.3(SYNGAP1):c.1941C>T (p.Gly647=)
NM_006772.3(SYNGAP1):c.194A>G (p.His65Arg) rs1776941711
NM_006772.3(SYNGAP1):c.1957C>T (p.Leu653=)
NM_006772.3(SYNGAP1):c.195C>T (p.His65=)
NM_006772.3(SYNGAP1):c.1964T>A (p.Leu655Gln) rs2151182352
NM_006772.3(SYNGAP1):c.196C>T (p.Pro66Ser)
NM_006772.3(SYNGAP1):c.1970G>T (p.Trp657Leu)
NM_006772.3(SYNGAP1):c.198C>A (p.Pro66=)
NM_006772.3(SYNGAP1):c.198C>G (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.1997A>G (p.Glu666Gly) rs1761035011
NM_006772.3(SYNGAP1):c.199C>T (p.Leu67=)
NM_006772.3(SYNGAP1):c.199del (p.Leu67fs) rs1554119814
NM_006772.3(SYNGAP1):c.2007T>C (p.Asn669=)
NM_006772.3(SYNGAP1):c.200del (p.Leu67fs)
NM_006772.3(SYNGAP1):c.2014A>G (p.Thr672Ala)
NM_006772.3(SYNGAP1):c.2015C>A (p.Thr672Lys)
NM_006772.3(SYNGAP1):c.2015C>T (p.Thr672Met) rs1405483444
NM_006772.3(SYNGAP1):c.201A>G (p.Leu67=)
NM_006772.3(SYNGAP1):c.2029A>T (p.Ser677Cys)
NM_006772.3(SYNGAP1):c.2037T>C (p.Phe679=)
NM_006772.3(SYNGAP1):c.2040G>A (p.Glu680=)
NM_006772.3(SYNGAP1):c.2052C>T (p.Asp684=) rs750115310
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2060G>A (p.Arg687Gln)
NM_006772.3(SYNGAP1):c.2067C>T (p.Leu689=) rs1554121850
NM_006772.3(SYNGAP1):c.2068T>C (p.Ser690Pro) rs1761036812
NM_006772.3(SYNGAP1):c.2071A>C (p.Thr691Pro) rs1581992998
NM_006772.3(SYNGAP1):c.2075T>A (p.Leu692Gln)
NM_006772.3(SYNGAP1):c.2075T>C (p.Leu692Pro) rs1761037096
NM_006772.3(SYNGAP1):c.2085A>C (p.Leu695=) rs1581993006
NM_006772.3(SYNGAP1):c.2089T>C (p.Trp697Arg) rs1581993016
NM_006772.3(SYNGAP1):c.2090G>A (p.Trp697Ter)
NM_006772.3(SYNGAP1):c.2098C>T (p.Leu700=)
NM_006772.3(SYNGAP1):c.2101C>T (p.Pro701Ser)
NM_006772.3(SYNGAP1):c.2103C>G (p.Pro701=)
NM_006772.3(SYNGAP1):c.2104_2115+14del rs1064792984
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.2115+17T>C rs2151182839
NM_006772.3(SYNGAP1):c.2115+1G>C
NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=) rs1057518786
NM_006772.3(SYNGAP1):c.2116-13C>T
NM_006772.3(SYNGAP1):c.2116-3C>T rs2151183616
NM_006772.3(SYNGAP1):c.2116-4C>T rs925997309
NM_006772.3(SYNGAP1):c.2116-8C>T rs1442597772
NM_006772.3(SYNGAP1):c.2116G>A (p.Glu706Lys)
NM_006772.3(SYNGAP1):c.2121C>T (p.Ala707=)
NM_006772.3(SYNGAP1):c.2135_2142del (p.Gly712fs) rs1561787690
NM_006772.3(SYNGAP1):c.2144_2146del (p.Pro715del) rs2151183695
NM_006772.3(SYNGAP1):c.2145C>G (p.Pro715=)
NM_006772.3(SYNGAP1):c.2147G>A (p.Arg716Gln) rs1060503384
NM_006772.3(SYNGAP1):c.2151C>T (p.Leu717=)
NM_006772.3(SYNGAP1):c.2158G>A (p.Asp720Asn)
NM_006772.3(SYNGAP1):c.2160C>T (p.Asp720=)
NM_006772.3(SYNGAP1):c.2162T>G (p.Ile721Ser) rs1581993511
NM_006772.3(SYNGAP1):c.2178_2179delinsTT (p.Arg726_Asn727delinsSerTyr)
NM_006772.3(SYNGAP1):c.2184C>A (p.Pro728=)
NM_006772.3(SYNGAP1):c.2195G>C (p.Arg732Thr) rs934177451
NM_006772.3(SYNGAP1):c.2200C>T (p.Pro734Ser)
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys) rs1202720979
NM_006772.3(SYNGAP1):c.2207G>A (p.Arg736His) rs151334677
NM_006772.3(SYNGAP1):c.2214T>G (p.Ser738Arg) rs1243545018
NM_006772.3(SYNGAP1):c.2215G>T (p.Glu739Ter) rs1554121934
NM_006772.3(SYNGAP1):c.2216A>T (p.Glu739Val)
NM_006772.3(SYNGAP1):c.2219G>A (p.Arg740Gln)
NM_006772.3(SYNGAP1):c.2223C>T (p.Pro741=) rs765916822
NM_006772.3(SYNGAP1):c.2226G>T (p.Arg742=)
NM_006772.3(SYNGAP1):c.2234del (p.Pro745fs) rs2151183929
NM_006772.3(SYNGAP1):c.2235_2238dup (p.Val747fs)
NM_006772.3(SYNGAP1):c.2238G>A (p.Val746=)
NM_006772.3(SYNGAP1):c.2239G>C (p.Val747Leu)
NM_006772.3(SYNGAP1):c.223G>T (p.Glu75Ter)
NM_006772.3(SYNGAP1):c.2243T>G (p.Leu748Arg) rs886868218
NM_006772.3(SYNGAP1):c.2245C>T (p.Arg749Trp)
NM_006772.3(SYNGAP1):c.2246G>A (p.Arg749Gln) rs1581993638
NM_006772.3(SYNGAP1):c.2249G>A (p.Gly750Glu) rs2151183981
NM_006772.3(SYNGAP1):c.2255C>T (p.Ser752Leu)
NM_006772.3(SYNGAP1):c.2266C>T (p.Gln756Ter) rs1554121960
NM_006772.3(SYNGAP1):c.2272dup (p.Tyr758fs) rs1561787845
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.2283G>A (p.Arg761=) rs2151184114
NM_006772.3(SYNGAP1):c.2291A>G (p.Asn764Ser)
NM_006772.3(SYNGAP1):c.2294+12G>C
NM_006772.3(SYNGAP1):c.2294+13G>A rs1761051511
NM_006772.3(SYNGAP1):c.2294+14G>A rs2151184207
NM_006772.3(SYNGAP1):c.2294+1G>T rs1554121970
NM_006772.3(SYNGAP1):c.2294+3G>A
NM_006772.3(SYNGAP1):c.2294+5G>T
NM_006772.3(SYNGAP1):c.2294+9C>T
NM_006772.3(SYNGAP1):c.2294G>A (p.Ser765Asn)
NM_006772.3(SYNGAP1):c.2295-11TC[5] rs2151186064
NM_006772.3(SYNGAP1):c.2295-13C>T
NM_006772.3(SYNGAP1):c.2295-17T>C rs1259934375
NM_006772.3(SYNGAP1):c.2295-19T>C
NM_006772.3(SYNGAP1):c.2295-20C>T
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.2307T>C (p.Leu769=)
NM_006772.3(SYNGAP1):c.2324G>C (p.Arg775Pro)
NM_006772.3(SYNGAP1):c.2336+7G>A
NM_006772.3(SYNGAP1):c.2336+9C>T
NM_006772.3(SYNGAP1):c.2337-1G>A
NM_006772.3(SYNGAP1):c.2337-20G>A
NM_006772.3(SYNGAP1):c.2337-9_2337-3del
NM_006772.3(SYNGAP1):c.2343G>A (p.Met781Ile)
NM_006772.3(SYNGAP1):c.2350G>A (p.Ala784Thr) rs768267846
NM_006772.3(SYNGAP1):c.2350_2354dup (p.Pro787fs)
NM_006772.3(SYNGAP1):c.2354G>A (p.Arg785His)
NM_006772.3(SYNGAP1):c.2359C>A (p.Pro787Thr) rs765388278
NM_006772.3(SYNGAP1):c.2359C>T (p.Pro787Ser)
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs) rs1761087122
NM_006772.3(SYNGAP1):c.2369C>G (p.Thr790Ser) rs552867155
NM_006772.3(SYNGAP1):c.2370C>G (p.Thr790=)
NM_006772.3(SYNGAP1):c.2385C>T (p.Pro795=)
NM_006772.3(SYNGAP1):c.2387dup (p.Pro797fs) rs1581995425
NM_006772.3(SYNGAP1):c.2388A>T (p.Pro796=)
NM_006772.3(SYNGAP1):c.2391_2392dup (p.Pro798fs) rs1581995453
NM_006772.3(SYNGAP1):c.2393C>T (p.Pro798Leu) rs369972072
NM_006772.3(SYNGAP1):c.2394G>T (p.Pro798=)
NM_006772.3(SYNGAP1):c.2400T>C (p.Gly800=)
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.2415G>T (p.Leu805=) rs1298837548
NM_006772.3(SYNGAP1):c.2420A>G (p.Tyr807Cys)
NM_006772.3(SYNGAP1):c.2420A>T (p.Tyr807Phe) rs1403610596
NM_006772.3(SYNGAP1):c.2421T>C (p.Tyr807=)
NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs) rs397515320
NM_006772.3(SYNGAP1):c.2439G>A (p.Leu813=)
NM_006772.3(SYNGAP1):c.2443C>T (p.Arg815Cys) rs1216243827
NM_006772.3(SYNGAP1):c.2444G>A (p.Arg815His) rs372737279
NM_006772.3(SYNGAP1):c.2450C>G (p.Ser817Ter) rs2151188152
NM_006772.3(SYNGAP1):c.2457A>G (p.Ala819=) rs1000081481
NM_006772.3(SYNGAP1):c.2459A>G (p.Tyr820Cys) rs1761092262
NM_006772.3(SYNGAP1):c.2472C>T (p.Ser824=)
NM_006772.3(SYNGAP1):c.2478C>T (p.Asp826=) rs754494467
NM_006772.3(SYNGAP1):c.2485G>A (p.Glu829Lys)
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.2516dup (p.Ser840fs) rs2151188291
NM_006772.3(SYNGAP1):c.2518A>T (p.Ser840Cys)
NM_006772.3(SYNGAP1):c.2521G>A (p.Val841Met)
NM_006772.3(SYNGAP1):c.2523G>A (p.Val841=)
NM_006772.3(SYNGAP1):c.2548G>A (p.Gly850Arg)
NM_006772.3(SYNGAP1):c.2550G>A (p.Gly850=)
NM_006772.3(SYNGAP1):c.2550del (p.Pro851fs)
NM_006772.3(SYNGAP1):c.2560C>T (p.Arg854Cys)
NM_006772.3(SYNGAP1):c.2561G>A (p.Arg854His) rs1761094271
NM_006772.3(SYNGAP1):c.2562C>T (p.Arg854=) rs1031143430
NM_006772.3(SYNGAP1):c.2571C>T (p.Ser857=)
NM_006772.3(SYNGAP1):c.2573G>A (p.Ser858Asn) rs746764816
NM_006772.3(SYNGAP1):c.2578G>A (p.Val860Ile) rs1060503387
NM_006772.3(SYNGAP1):c.2582C>T (p.Ser861Leu) rs770969837
NM_006772.3(SYNGAP1):c.2583G>C (p.Ser861=)
NM_006772.3(SYNGAP1):c.2591_2592del (p.Ala864fs)
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile) rs768878991
NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs) rs587780474
NM_006772.3(SYNGAP1):c.2608C>G (p.Leu870Val) rs1761095997
NM_006772.3(SYNGAP1):c.2627C>T (p.Ser876Leu)
NM_006772.3(SYNGAP1):c.2635_2636delinsAA (p.Ala879Lys) rs1561789088
NM_006772.3(SYNGAP1):c.2647C>T (p.Leu883=)
NM_006772.3(SYNGAP1):c.2650C>A (p.Arg884=)
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.2667del (p.Arg890fs)
NM_006772.3(SYNGAP1):c.2669G>A (p.Arg890His) rs369681579
NM_006772.3(SYNGAP1):c.2684G>A (p.Ser895Asn)
NM_006772.3(SYNGAP1):c.2694C>T (p.Ser898=) rs2151188732
NM_006772.3(SYNGAP1):c.269T>A (p.Val90Glu) rs1776944517
NM_006772.3(SYNGAP1):c.2700G>C (p.Thr900=) rs757132718
NM_006772.3(SYNGAP1):c.2702C>T (p.Ala901Val) rs1356491362
NM_006772.3(SYNGAP1):c.2703_2715del (p.Ala902fs)
NM_006772.3(SYNGAP1):c.2717del (p.Leu906fs) rs2151188826
NM_006772.3(SYNGAP1):c.2719A>T (p.Ser907Cys) rs2151188832
NM_006772.3(SYNGAP1):c.2724G>C (p.Gln908His) rs1554122236
NM_006772.3(SYNGAP1):c.2726del (p.Met909fs) rs1561789215
NM_006772.3(SYNGAP1):c.2729G>C (p.Gly910Ala)
NM_006772.3(SYNGAP1):c.2730T>A (p.Gly910=) rs2151188851
NM_006772.3(SYNGAP1):c.2733C>T (p.Val911=) rs1581996050
NM_006772.3(SYNGAP1):c.2736C>G (p.Thr912=)
NM_006772.3(SYNGAP1):c.273G>A (p.Glu91=)
NM_006772.3(SYNGAP1):c.2753C>T (p.Ala918Val) rs2151188913
NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter) rs1554122242
NM_006772.3(SYNGAP1):c.2758C>T (p.Gln920Ter)
NM_006772.3(SYNGAP1):c.2763G>T (p.Leu921=)
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006772.3(SYNGAP1):c.2765G>A (p.Arg922Gln)
NM_006772.3(SYNGAP1):c.2768T>A (p.Ile923Asn) rs1581996132
NM_006772.3(SYNGAP1):c.2769C>A (p.Ile923=)
NM_006772.3(SYNGAP1):c.276del (p.Arg93fs)
NM_006772.3(SYNGAP1):c.2776_2777del (p.Ser926fs)
NM_006772.3(SYNGAP1):c.277C>A (p.Arg93=)
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter) rs1554122249
NM_006772.3(SYNGAP1):c.2787C>T (p.Asn929=)
NM_006772.3(SYNGAP1):c.2804CTG[1] (p.Ala936del) rs1561789303
NM_006772.3(SYNGAP1):c.2809G>C (p.Asp937His)
NM_006772.3(SYNGAP1):c.2812G>A (p.Gly938Arg) rs1761102209
NM_006772.3(SYNGAP1):c.2818G>C (p.Gly940Arg)
NM_006772.3(SYNGAP1):c.2818_2852del (p.Gly940fs) rs1561789313
NM_006772.3(SYNGAP1):c.2823C>T (p.Pro941=)
NM_006772.3(SYNGAP1):c.2825C>T (p.Pro942Leu)
NM_006772.3(SYNGAP1):c.2835T>A (p.His945Gln)
NM_006772.3(SYNGAP1):c.2852A>G (p.His951Arg) rs1761103512
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser) rs1038956173
NM_006772.3(SYNGAP1):c.2855G>T (p.Gly952Val)
NM_006772.3(SYNGAP1):c.2856C>G (p.Gly952=) rs535906467
NM_006772.3(SYNGAP1):c.2856C>T (p.Gly952=) rs535906467
NM_006772.3(SYNGAP1):c.2860C>T (p.Pro954Ser) rs1761103918
NM_006772.3(SYNGAP1):c.2867_2872dup (p.His957_His958insProHis) rs2151189234
NM_006772.3(SYNGAP1):c.2868C>T (p.Ser956=) rs2151189242
NM_006772.3(SYNGAP1):c.286G>A (p.Gly96Ser) rs1776945245
NM_006772.3(SYNGAP1):c.2873A>C (p.His958Pro) rs1465908298
NM_006772.3(SYNGAP1):c.2874CCA[2] (p.His964_His966del) rs762369615
NM_006772.3(SYNGAP1):c.2874CCA[4] (p.His966del) rs762369615
NM_006772.3(SYNGAP1):c.2874CCA[6] (p.His966dup) rs762369615
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.2889T>C (p.His963=) rs1581996306
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.28del (p.Arg10fs)
NM_006772.3(SYNGAP1):c.2909A>G (p.Glu970Gly)
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.2948G>A (p.Ser983Asn) rs1554122267
NM_006772.3(SYNGAP1):c.2954G>A (p.Ser985Asn)
NM_006772.3(SYNGAP1):c.2955T>C (p.Ser985=) rs1240404975
NM_006772.3(SYNGAP1):c.2955_2958del (p.Ser985fs)
NM_006772.3(SYNGAP1):c.296-17C>T
NM_006772.3(SYNGAP1):c.296-4C>T rs909586569
NM_006772.3(SYNGAP1):c.296-6C>T rs2151151755
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.2970del (p.Val992fs)
NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg) rs145472959
NM_006772.3(SYNGAP1):c.2976C>G (p.Val992=)
NM_006772.3(SYNGAP1):c.2979C>T (p.Pro993=) rs2151189594
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.3020G>A (p.Ser1007Asn)
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.3055del (p.Arg1019fs)
NM_006772.3(SYNGAP1):c.3057T>G (p.Arg1019=)
NM_006772.3(SYNGAP1):c.3059G>T (p.Arg1020Leu) rs1210998685
NM_006772.3(SYNGAP1):c.3060del (p.Gln1021fs) rs1554122293
NM_006772.3(SYNGAP1):c.3073C>T (p.Gln1025Ter) rs1554122296
NM_006772.3(SYNGAP1):c.3075G>A (p.Gln1025=) rs1269883967
NM_006772.3(SYNGAP1):c.3090C>T (p.His1030=)
NM_006772.3(SYNGAP1):c.3092T>C (p.Met1031Thr) rs1554122297
NM_006772.3(SYNGAP1):c.3100C>G (p.Pro1034Ala)
NM_006772.3(SYNGAP1):c.3103C>A (p.Pro1035Thr)
NM_006772.3(SYNGAP1):c.3111C>T (p.Ile1037=)
NM_006772.3(SYNGAP1):c.3119G>T (p.Gly1040Val) rs1761112588
NM_006772.3(SYNGAP1):c.311G>T (p.Arg104Leu)
NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser) rs1561789701
NM_006772.3(SYNGAP1):c.3123C>A (p.Pro1041=)
NM_006772.3(SYNGAP1):c.3124C>T (p.Gln1042Ter) rs1554122305
NM_006772.3(SYNGAP1):c.3125A>G (p.Gln1042Arg)
NM_006772.3(SYNGAP1):c.3133del (p.Ala1045fs) rs2151190116
NM_006772.3(SYNGAP1):c.3135C>T (p.Ala1045=) rs1242622464
NM_006772.3(SYNGAP1):c.313T>C (p.Ser105Pro)
NM_006772.3(SYNGAP1):c.3141_3142del (p.Gly1048fs) rs2151190159
NM_006772.3(SYNGAP1):c.3142G>C (p.Gly1048Arg)
NM_006772.3(SYNGAP1):c.314C>T (p.Ser105Leu)
NM_006772.3(SYNGAP1):c.3151G>T (p.Gly1051Cys) rs1761113561
NM_006772.3(SYNGAP1):c.3156_3167del (p.1053SGGG[1]) rs1321244643
NM_006772.3(SYNGAP1):c.3156_3167dup (p.1053SGGG[3]) rs1321244643
NM_006772.3(SYNGAP1):c.3159C>T (p.Ser1053=)
NM_006772.3(SYNGAP1):c.315G>C (p.Ser105=)
NM_006772.3(SYNGAP1):c.315G>T (p.Ser105=) rs757448236
NM_006772.3(SYNGAP1):c.3161G>A (p.Gly1054Asp)
NM_006772.3(SYNGAP1):c.3167_3188dup (p.Pro1065fs) rs1581996778
NM_006772.3(SYNGAP1):c.3168_3179del (p.1053_1056SGGG[1]) rs774101585
NM_006772.3(SYNGAP1):c.3178G>A (p.Gly1060Ser) rs766124746
NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs)
NM_006772.3(SYNGAP1):c.3183C>G (p.Gly1061=) rs759449351
NM_006772.3(SYNGAP1):c.3184G>A (p.Gly1062Arg)
NM_006772.3(SYNGAP1):c.3194C>T (p.Pro1065Leu) rs1014180310
NM_006772.3(SYNGAP1):c.3202T>C (p.Leu1068=)
NM_006772.3(SYNGAP1):c.3209G>A (p.Arg1070Lys) rs1561789828
NM_006772.3(SYNGAP1):c.3209_3210delinsCA (p.Arg1070Thr)
NM_006772.3(SYNGAP1):c.3223C>A (p.Gln1075Lys)
NM_006772.3(SYNGAP1):c.3226T>C (p.Leu1076=) rs756330466
NM_006772.3(SYNGAP1):c.3233T>A (p.Val1078Asp)
NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs) rs1554122341
NM_006772.3(SYNGAP1):c.3237C>G (p.Ser1079Arg) rs149779350
NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr) rs1200128322
NM_006772.3(SYNGAP1):c.3238G>T (p.Ala1080Ser)
NM_006772.3(SYNGAP1):c.3244C>T (p.Gln1082Ter)
NM_006772.3(SYNGAP1):c.3250C>G (p.Pro1084Ala)
NM_006772.3(SYNGAP1):c.3255G>A (p.Arg1085=) rs769113190
NM_006772.3(SYNGAP1):c.3260C>T (p.Ser1087Phe)
NM_006772.3(SYNGAP1):c.3262A>G (p.Ser1088Gly)
NM_006772.3(SYNGAP1):c.3265_3274dup (p.Leu1092fs)
NM_006772.3(SYNGAP1):c.3290C>T (p.Pro1097Leu)
NM_006772.3(SYNGAP1):c.3293G>A (p.Ser1098Asn) rs1761118961
NM_006772.3(SYNGAP1):c.3294T>C (p.Ser1098=) rs2151190779
NM_006772.3(SYNGAP1):c.3303del (p.Ala1102fs) rs2151190809
NM_006772.3(SYNGAP1):c.3304G>C (p.Ala1102Pro)
NM_006772.3(SYNGAP1):c.3305C>T (p.Ala1102Val)
NM_006772.3(SYNGAP1):c.3306C>G (p.Ala1102=) rs1761119422
NM_006772.3(SYNGAP1):c.3307C>T (p.Arg1103Cys)
NM_006772.3(SYNGAP1):c.3308G>T (p.Arg1103Leu) rs764952741
NM_006772.3(SYNGAP1):c.3309T>G (p.Arg1103=)
NM_006772.3(SYNGAP1):c.3310C>T (p.Pro1104Ser)
NM_006772.3(SYNGAP1):c.3312A>C (p.Pro1104=)
NM_006772.3(SYNGAP1):c.3314G>A (p.Arg1105Gln)
NM_006772.3(SYNGAP1):c.3323G>T (p.Ser1108Ile)
NM_006772.3(SYNGAP1):c.3326T>C (p.Leu1109Pro)
NM_006772.3(SYNGAP1):c.3328A>G (p.Ser1110Gly)
NM_006772.3(SYNGAP1):c.3338G>A (p.Gly1113Asp)
NM_006772.3(SYNGAP1):c.333A>G (p.Pro111=) rs2151151896
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3343_3354del (p.Ile1115_Ser1118del) rs1761120740
NM_006772.3(SYNGAP1):c.3343_3363del (p.Ile1115_Ser1121del) rs2151190971
NM_006772.3(SYNGAP1):c.3344_3352del (p.Ile1115_Gly1117del)
NM_006772.3(SYNGAP1):c.3348G>A (p.Gly1116=)
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[1] (p.1118SGG[1]) rs761763671
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[3] (p.1118SGG[3]) rs761763671
NM_006772.3(SYNGAP1):c.3351C>T (p.Gly1117=)
NM_006772.3(SYNGAP1):c.3363C>T (p.Ser1121=) rs1478769596
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.3377del (p.Gly1126fs) rs1581997228
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.3384G>T (p.Gly1128=)
NM_006772.3(SYNGAP1):c.3384dup (p.Leu1129fs)
NM_006772.3(SYNGAP1):c.3386T>C (p.Leu1129Pro) rs1581997279
NM_006772.3(SYNGAP1):c.3395C>A (p.Ser1132Tyr) rs1761123592
NM_006772.3(SYNGAP1):c.339G>A (p.Gly113=) rs1163363015
NM_006772.3(SYNGAP1):c.33G>A (p.Gly11=) rs749949430
NM_006772.3(SYNGAP1):c.3404A>C (p.Lys1135Thr) rs2151191254
NM_006772.3(SYNGAP1):c.3404_3407del (p.Lys1135fs)
NM_006772.3(SYNGAP1):c.3405G>A (p.Lys1135=)
NM_006772.3(SYNGAP1):c.3408+3A>G
NM_006772.3(SYNGAP1):c.3408+7G>A
NM_006772.3(SYNGAP1):c.3409-7G>A
NM_006772.3(SYNGAP1):c.3423A>C (p.Pro1141=)
NM_006772.3(SYNGAP1):c.3424T>C (p.Ser1142Pro)
NM_006772.3(SYNGAP1):c.3434A>G (p.Asn1145Ser)
NM_006772.3(SYNGAP1):c.3442A>T (p.Met1148Leu) rs765741734
NM_006772.3(SYNGAP1):c.3450C>T (p.Ala1150=)
NM_006772.3(SYNGAP1):c.3452_3453del (p.Ala1150_Ser1151insTer) rs2151192910
NM_006772.3(SYNGAP1):c.3456G>A (p.Glu1152=) rs2151192927
NM_006772.3(SYNGAP1):c.3471G>A (p.Trp1157Ter) rs1064796403
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.3505G>T (p.Glu1169Ter)
NM_006772.3(SYNGAP1):c.3511G>A (p.Ala1171Thr)
NM_006772.3(SYNGAP1):c.3516dup (p.Ile1173fs) rs2151193070
NM_006772.3(SYNGAP1):c.3520G>A (p.Glu1174Lys)
NM_006772.3(SYNGAP1):c.3528A>G (p.Glu1176=)
NM_006772.3(SYNGAP1):c.3529G>A (p.Glu1177Lys) rs1554122475
NM_006772.3(SYNGAP1):c.3535A>T (p.Lys1179Ter)
NM_006772.3(SYNGAP1):c.3553A>T (p.Lys1185Ter) rs1554122483
NM_006772.3(SYNGAP1):c.3555A>G (p.Lys1185=)
NM_006772.3(SYNGAP1):c.3567G>C (p.Glu1189Asp) rs1761142201
NM_006772.3(SYNGAP1):c.3582+11C>A
NM_006772.3(SYNGAP1):c.3582+11C>T rs2151193305
NM_006772.3(SYNGAP1):c.3582+12T>C
NM_006772.3(SYNGAP1):c.3582+3A>T rs2151193232
NM_006772.3(SYNGAP1):c.3582+5G>A rs1323082596
NM_006772.3(SYNGAP1):c.3582+7T>G rs370618729
NM_006772.3(SYNGAP1):c.3583-10C>T
NM_006772.3(SYNGAP1):c.3583-12C>T
NM_006772.3(SYNGAP1):c.3583-17G>A rs768465867
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3587dup (p.Glu1197fs) rs1761207751
NM_006772.3(SYNGAP1):c.3595G>A (p.Glu1199Lys) rs776835472
NM_006772.3(SYNGAP1):c.3606del (p.His1203fs) rs1761208393
NM_006772.3(SYNGAP1):c.3607C>G (p.His1203Asp) rs1430136718
NM_006772.3(SYNGAP1):c.360T>G (p.Gly120=)
NM_006772.3(SYNGAP1):c.3632del (p.Met1211fs) rs2151199347
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe) rs1761209473
NM_006772.3(SYNGAP1):c.3638A>C (p.Asn1213Thr) rs761582251
NM_006772.3(SYNGAP1):c.3638A>G (p.Asn1213Ser) rs761582251
NM_006772.3(SYNGAP1):c.3640C>T (p.Arg1214Trp) rs2151199384
NM_006772.3(SYNGAP1):c.3648G>C (p.Leu1216=) rs1400502496
NM_006772.3(SYNGAP1):c.3653A>T (p.Glu1218Val) rs1761210278
NM_006772.3(SYNGAP1):c.3655T>C (p.Tyr1219His)
NM_006772.3(SYNGAP1):c.3660G>A (p.Glu1220=) rs2151199457
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp) rs2151199464
NM_006772.3(SYNGAP1):c.3681A>G (p.Glu1227=) rs2151199514
NM_006772.3(SYNGAP1):c.3681del (p.Glu1228fs)
NM_006772.3(SYNGAP1):c.3685C>T (p.Gln1229Ter) rs2151199529
NM_006772.3(SYNGAP1):c.3690C>A (p.Thr1230=) rs2151199552
NM_006772.3(SYNGAP1):c.36C>G (p.Ser12Arg)
NM_006772.3(SYNGAP1):c.36C>T (p.Ser12=) rs1362587238
NM_006772.3(SYNGAP1):c.3706C>T (p.Gln1236Ter) rs1554122729
NM_006772.3(SYNGAP1):c.3714G>A (p.Gln1238=) rs1350317629
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.371C>T (p.Ala124Val) rs776125498
NM_006772.3(SYNGAP1):c.3723G>A (p.Leu1241=) rs2151199602
NM_006772.3(SYNGAP1):c.3726G>A (p.Glu1242=)
NM_006772.3(SYNGAP1):c.3732_3735del (p.Ser1244fs) rs1761212075
NM_006772.3(SYNGAP1):c.3738G>A (p.Lys1246=)
NM_006772.3(SYNGAP1):c.373C>T (p.Pro125Ser) rs1287359701
NM_006772.3(SYNGAP1):c.3756G>A (p.Gln1252=)
NM_006772.3(SYNGAP1):c.3771C>A (p.Ser1257=) rs1207365456
NM_006772.3(SYNGAP1):c.3793A>C (p.Arg1265=)
NM_006772.3(SYNGAP1):c.3794+19dup rs1454267782
NM_006772.3(SYNGAP1):c.3794+7G>A
NM_006772.3(SYNGAP1):c.3795-10G>C
NM_006772.3(SYNGAP1):c.3795-1G>C rs1761241410
NM_006772.3(SYNGAP1):c.3795-7C>G rs1761241320
NM_006772.3(SYNGAP1):c.3802C>T (p.Leu1268=)
NM_006772.3(SYNGAP1):c.380G>A (p.Arg127Gln)
NM_006772.3(SYNGAP1):c.3811G>T (p.Glu1271Ter) rs1554122888
NM_006772.3(SYNGAP1):c.3817C>T (p.Leu1273=)
NM_006772.3(SYNGAP1):c.381G>A (p.Arg127=)
NM_006772.3(SYNGAP1):c.3820C>T (p.Arg1274Cys) rs1060503385
NM_006772.3(SYNGAP1):c.3821G>A (p.Arg1274His)
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.384dup (p.Ser129fs) rs1554120498
NM_006772.3(SYNGAP1):c.3860C>T (p.Pro1287Leu) rs1374327029
NM_006772.3(SYNGAP1):c.3864G>A (p.Lys1288=)
NM_006772.3(SYNGAP1):c.387+14del
NM_006772.3(SYNGAP1):c.387+8G>T rs1479546732
NM_006772.3(SYNGAP1):c.3871C>T (p.Leu1291=) rs2151202605
NM_006772.3(SYNGAP1):c.3879C>T (p.Asp1293=) rs1340445648
NM_006772.3(SYNGAP1):c.387G>A (p.Ser129=) rs767126748
NM_006772.3(SYNGAP1):c.388-11T>G
NM_006772.3(SYNGAP1):c.388-13A>G
NM_006772.3(SYNGAP1):c.388-18T>A
NM_006772.3(SYNGAP1):c.388-2del
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006772.3(SYNGAP1):c.388-3dup rs771107621
NM_006772.3(SYNGAP1):c.388-4C>A
NM_006772.3(SYNGAP1):c.3885+8T>C
NM_006772.3(SYNGAP1):c.3886-7C>G
NM_006772.3(SYNGAP1):c.388C>T (p.Gln130Ter) rs1175416158
NM_006772.3(SYNGAP1):c.3902C>A (p.Pro1301His) rs199694815
NM_006772.3(SYNGAP1):c.3902C>G (p.Pro1301Arg)
NM_006772.3(SYNGAP1):c.3903C>A (p.Pro1301=)
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.3929C>T (p.Thr1310Met)
NM_006772.3(SYNGAP1):c.3930G>A (p.Thr1310=) rs865783045
NM_006772.3(SYNGAP1):c.3931C>T (p.Leu1311=)
NM_006772.3(SYNGAP1):c.3932T>C (p.Leu1311Pro) rs1761347213
NM_006772.3(SYNGAP1):c.3936C>T (p.Ala1312=) rs774453156
NM_006772.3(SYNGAP1):c.3941C>T (p.Pro1314Leu) rs1369846705
NM_006772.3(SYNGAP1):c.3949G>A (p.Gly1317Ser)
NM_006772.3(SYNGAP1):c.3957C>A (p.Ala1319=) rs773538561
NM_006772.3(SYNGAP1):c.3957C>G (p.Ala1319=) rs773538561
NM_006772.3(SYNGAP1):c.3957C>T (p.Ala1319=)
NM_006772.3(SYNGAP1):c.3958C>T (p.Pro1320Ser) rs1554123292
NM_006772.3(SYNGAP1):c.3962C>A (p.Pro1321Gln) rs1761348954
NM_006772.3(SYNGAP1):c.3963A>C (p.Pro1321=) rs764754365
NM_006772.3(SYNGAP1):c.3963A>G (p.Pro1321=) rs764754365
NM_006772.3(SYNGAP1):c.3964G>C (p.Ala1322Pro) rs752321873
NM_006772.3(SYNGAP1):c.3966C>T (p.Ala1322=)
NM_006772.3(SYNGAP1):c.3969A>C (p.Pro1323=) rs764031180
NM_006772.3(SYNGAP1):c.3970C>T (p.Pro1324Ser) rs2151214061
NM_006772.3(SYNGAP1):c.3972A>C (p.Pro1324=) rs751387116
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.3978A>C (p.Pro1326=) rs745764103
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.3996G>A (p.Thr1332=)
NM_006772.3(SYNGAP1):c.3996G>T (p.Thr1332=)
NM_006772.3(SYNGAP1):c.3G>A (p.Met1Ile) rs1292609217
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser) rs1761351808
NM_006772.3(SYNGAP1):c.4005C>T (p.Gly1335=) rs1561794001
NM_006772.3(SYNGAP1):c.4008G>A (p.Glu1336=)
NM_006772.3(SYNGAP1):c.401G>A (p.Ser134Asn)
NM_006772.3(SYNGAP1):c.4020C>T (p.Thr1340=)
NM_006772.3(SYNGAP1):c.4021G>T (p.Ala1341Ser)
NM_006772.3(SYNGAP1):c.4023A>G (p.Ala1341=)
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.404_410del (p.Arg135fs)
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.410del (p.Leu137fs) rs1581980317
NM_006772.3(SYNGAP1):c.411A>T (p.Leu137=)
NM_006772.3(SYNGAP1):c.416G>A (p.Ser139Asn)
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.438_448dup (p.Leu150fs)
NM_006772.3(SYNGAP1):c.43G>A (p.Ala15Thr)
NM_006772.3(SYNGAP1):c.444C>T (p.Pro148=)
NM_006772.3(SYNGAP1):c.45G>A (p.Ala15=) rs1554304262
NM_006772.3(SYNGAP1):c.45G>C (p.Ala15=)
NM_006772.3(SYNGAP1):c.470G>A (p.Arg157His)
NM_006772.3(SYNGAP1):c.478C>T (p.Leu160=)
NM_006772.3(SYNGAP1):c.478del (p.Leu160fs)
NM_006772.3(SYNGAP1):c.484C>G (p.Arg162Gly)
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.502C>T (p.His168Tyr) rs1777198561
NM_006772.3(SYNGAP1):c.505G>A (p.Asp169Asn) rs1581980479
NM_006772.3(SYNGAP1):c.509+14A>G rs1039730054
NM_006772.3(SYNGAP1):c.509+1G>T rs1561781989
NM_006772.3(SYNGAP1):c.509+5A>C rs780314191
NM_006772.3(SYNGAP1):c.510-5G>A rs1581983723
NM_006772.3(SYNGAP1):c.514C>A (p.Arg172=)
NM_006772.3(SYNGAP1):c.519G>A (p.Leu173=) rs746494569
NM_006772.3(SYNGAP1):c.51C>T (p.Ser17=) rs1776745615
NM_006772.3(SYNGAP1):c.526A>G (p.Ser176Gly)
NM_006772.3(SYNGAP1):c.537G>A (p.Glu179=) rs1209774912
NM_006772.3(SYNGAP1):c.53A>G (p.Tyr18Cys)
NM_006772.3(SYNGAP1):c.555C>T (p.Ser185=) rs1581983817
NM_006772.3(SYNGAP1):c.556T>C (p.Leu186=) rs2151161145
NM_006772.3(SYNGAP1):c.573T>C (p.Ser191=) rs1581983832
NM_006772.3(SYNGAP1):c.57C>T (p.Ala19=) rs1411216735
NM_006772.3(SYNGAP1):c.585A>G (p.Ala195=) rs2151161190
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.603T>A (p.Asp201Glu)
NM_006772.3(SYNGAP1):c.604del (p.Glu202fs)
NM_006772.3(SYNGAP1):c.630C>T (p.His210=) rs2151161279
NM_006772.3(SYNGAP1):c.645C>G (p.Gly215=) rs2151161285
NM_006772.3(SYNGAP1):c.654C>T (p.Phe218=) rs542048435
NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs) rs1777299176
NM_006772.3(SYNGAP1):c.660T>C (p.Phe220=)
NM_006772.3(SYNGAP1):c.663+10C>G
NM_006772.3(SYNGAP1):c.663+1G>T rs1064797322
NM_006772.3(SYNGAP1):c.663+4C>G
NM_006772.3(SYNGAP1):c.664-12A>G
NM_006772.3(SYNGAP1):c.664-14_664-11del
NM_006772.3(SYNGAP1):c.664-4C>T
NM_006772.3(SYNGAP1):c.664-5T>C rs759615054
NM_006772.3(SYNGAP1):c.667A>G (p.Thr223Ala) rs1435943982
NM_006772.3(SYNGAP1):c.667A>T (p.Thr223Ser) rs1435943982
NM_006772.3(SYNGAP1):c.67+13G>A
NM_006772.3(SYNGAP1):c.67+15G>A
NM_006772.3(SYNGAP1):c.67+15del rs753367470
NM_006772.3(SYNGAP1):c.67+16A>T rs1581965137
NM_006772.3(SYNGAP1):c.67+9T>G rs1189746637
NM_006772.3(SYNGAP1):c.67+9dup
NM_006772.3(SYNGAP1):c.68-15G>A
NM_006772.3(SYNGAP1):c.68-19G>T rs373214421
NM_006772.3(SYNGAP1):c.68-3C>T
NM_006772.3(SYNGAP1):c.684A>T (p.Thr228=) rs2151161890
NM_006772.3(SYNGAP1):c.690C>T (p.Cys230=)
NM_006772.3(SYNGAP1):c.694G>A (p.Ala232Thr) rs756789403
NM_006772.3(SYNGAP1):c.700C>T (p.Arg234Trp) rs1777306036
NM_006772.3(SYNGAP1):c.702G>A (p.Arg234=)
NM_006772.3(SYNGAP1):c.703T>C (p.Ser235Pro) rs2151161955
NM_006772.3(SYNGAP1):c.707C>T (p.Ala236Val) rs1166557922
NM_006772.3(SYNGAP1):c.708G>A (p.Ala236=) rs745547755
NM_006772.3(SYNGAP1):c.708G>T (p.Ala236=) rs745547755
NM_006772.3(SYNGAP1):c.711C>T (p.Ala237=)
NM_006772.3(SYNGAP1):c.73C>T (p.Arg25Trp)
NM_006772.3(SYNGAP1):c.742C>T (p.Arg248Trp) rs1777307682
NM_006772.3(SYNGAP1):c.745del (p.Ala249fs) rs1777307832
NM_006772.3(SYNGAP1):c.75G>T (p.Arg25=) rs1776860145
NM_006772.3(SYNGAP1):c.762G>C (p.Lys254Asn) rs1777308288
NM_006772.3(SYNGAP1):c.763-5G>C
NM_006772.3(SYNGAP1):c.763-7A>T
NM_006772.3(SYNGAP1):c.763-8C>T rs2151168250
NM_006772.3(SYNGAP1):c.765C>T (p.Asp255=)
NM_006772.3(SYNGAP1):c.775C>T (p.Arg259Trp)
NM_006772.3(SYNGAP1):c.780A>T (p.Val260=) rs2151168292
NM_006772.3(SYNGAP1):c.781_784del (p.Asp261fs) rs1581986872
NM_006772.3(SYNGAP1):c.790C>T (p.Leu264=) rs2151168337
NM_006772.3(SYNGAP1):c.804C>T (p.Ile268=)
NM_006772.3(SYNGAP1):c.812C>A (p.Ala271Asp)
NM_006772.3(SYNGAP1):c.816G>A (p.Arg272=) rs1581986949
NM_006772.3(SYNGAP1):c.819G>A (p.Glu273=)
NM_006772.3(SYNGAP1):c.819G>T (p.Glu273Asp) rs1256016634
NM_006772.3(SYNGAP1):c.828C>T (p.Pro276=)
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs) rs2151168473
NM_006772.3(SYNGAP1):c.857_864dup (p.Met289fs) rs1554121189
NM_006772.3(SYNGAP1):c.860A>C (p.Asp287Ala)
NM_006772.3(SYNGAP1):c.865A>G (p.Met289Val)
NM_006772.3(SYNGAP1):c.86T>C (p.Met29Thr) rs1273250249
NM_006772.3(SYNGAP1):c.872A>G (p.Tyr291Cys)
NM_006772.3(SYNGAP1):c.878G>C (p.Arg293Pro) rs1561784553
NM_006772.3(SYNGAP1):c.878del (p.Arg293fs) rs1561784560
NM_006772.3(SYNGAP1):c.881_886delinsTCACCG (p.Thr294_Ser296delinsIleThrAla)
NM_006772.3(SYNGAP1):c.882C>T (p.Thr294=)
NM_006772.3(SYNGAP1):c.883_884del (p.Thr295fs) rs2151168687
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.892C>T (p.Pro298Ser)
NM_006772.3(SYNGAP1):c.897C>T (p.Arg299=)
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.91C>T (p.Arg31Ter) rs1554304655
NM_006772.3(SYNGAP1):c.927C>T (p.Gly309=)
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys) rs1554121206
NM_006772.3(SYNGAP1):c.929A>G (p.Glu310Gly)
NM_006772.3(SYNGAP1):c.92G>A (p.Arg31Gln)
NM_006772.3(SYNGAP1):c.930G>A (p.Glu310=) rs1760890843
NM_006772.3(SYNGAP1):c.936C>T (p.Phe312=)
NM_006772.3(SYNGAP1):c.937G>T (p.Glu313Ter) rs1554121207
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.980T>C (p.Leu327Pro) rs1581987268
NM_006772.3(SYNGAP1):c.986G>A (p.Arg329His)

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