NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu)
|
rs73174429
|
0.00046
|
NM_001372044.2(SHANK3):c.4441C>G (p.Leu1481Val)
|
rs201973139
|
0.00010
|
NM_001372044.2(SHANK3):c.2479G>A (p.Ala827Thr)
|
rs749080314
|
0.00004
|
NM_001372044.2(SHANK3):c.4924G>A (p.Gly1642Ser)
|
rs1050241731
|
0.00004
|
NM_001372044.2(SHANK3):c.4133G>A (p.Arg1378Gln)
|
rs765793587
|
0.00003
|
NM_001372044.2(SHANK3):c.4202C>T (p.Pro1401Leu)
|
rs768398764
|
0.00003
|
NM_001372044.2(SHANK3):c.2678A>C (p.Gln893Pro)
|
rs1020480936
|
0.00002
|
NM_001372044.2(SHANK3):c.3985C>T (p.Pro1329Ser)
|
rs748123356
|
0.00002
|
NM_001372044.2(SHANK3):c.4097C>T (p.Ser1366Leu)
|
rs773196497
|
0.00002
|
NM_001372044.2(SHANK3):c.1175A>G (p.Gln392Arg)
|
rs765089490
|
0.00001
|
NM_001372044.2(SHANK3):c.1312G>A (p.Gly438Ser)
|
rs368073391
|
0.00001
|
NM_001372044.2(SHANK3):c.1384G>A (p.Ala462Thr)
|
rs924786980
|
0.00001
|
NM_001372044.2(SHANK3):c.1793A>G (p.Asp598Gly)
|
rs1456892761
|
0.00001
|
NM_001372044.2(SHANK3):c.1832G>A (p.Arg611Gln)
|
rs767437118
|
0.00001
|
NM_001372044.2(SHANK3):c.2239G>A (p.Gly747Arg)
|
rs763010846
|
0.00001
|
NM_001372044.2(SHANK3):c.2301-11T>C
|
rs946851711
|
0.00001
|
NM_001372044.2(SHANK3):c.2398A>G (p.Thr800Ala)
|
rs748955765
|
0.00001
|
NM_001372044.2(SHANK3):c.350C>T (p.Ala117Val)
|
rs1461739965
|
0.00001
|
NM_001372044.2(SHANK3):c.3527C>T (p.Pro1176Leu)
|
rs768527232
|
0.00001
|
NM_001372044.2(SHANK3):c.4006G>A (p.Gly1336Ser)
|
rs752227380
|
0.00001
|
NM_001372044.2(SHANK3):c.4024G>A (p.Gly1342Arg)
|
rs773137381
|
0.00001
|
NM_001372044.2(SHANK3):c.4520C>T (p.Pro1507Leu)
|
rs752413653
|
0.00001
|
NM_001372044.2(SHANK3):c.4657G>A (p.Val1553Met)
|
rs530777182
|
0.00001
|
NM_001372044.2(SHANK3):c.5071A>G (p.Ile1691Val)
|
rs991616356
|
0.00001
|
NM_001372044.2(SHANK3):c.828-6C>A
|
rs748298696
|
0.00001
|
NM_001372044.2(SHANK3):c.869G>A (p.Arg290His)
|
rs775487427
|
0.00001
|
NM_001372044.2(SHANK3):c.994G>A (p.Ala332Thr)
|
rs1210893160
|
0.00001
|
NM_001372044.2(SHANK3):c.1037T>G (p.Phe346Cys)
|
|
|
NM_001372044.2(SHANK3):c.1052T>G (p.Met351Arg)
|
|
|
NM_001372044.2(SHANK3):c.1087C>T (p.His363Tyr)
|
rs2146773272
|
|
NM_001372044.2(SHANK3):c.1112+1G>A
|
rs1555905767
|
|
NM_001372044.2(SHANK3):c.1138C>T (p.Arg380Cys)
|
rs2082981691
|
|
NM_001372044.2(SHANK3):c.1153G>C (p.Asp385His)
|
rs2124372223
|
|
NM_001372044.2(SHANK3):c.125G>C (p.Gly42Ala)
|
|
|
NM_001372044.2(SHANK3):c.1390C>T (p.Pro464Ser)
|
rs2146794712
|
|
NM_001372044.2(SHANK3):c.1413C>T (p.Leu471=)
|
|
|
NM_001372044.2(SHANK3):c.1511C>T (p.Ala504Val)
|
|
|
NM_001372044.2(SHANK3):c.1598C>T (p.Pro533Leu)
|
rs1555907951
|
|
NM_001372044.2(SHANK3):c.1613C>T (p.Pro538Leu)
|
rs2146799027
|
|
NM_001372044.2(SHANK3):c.1733T>C (p.Ile578Thr)
|
rs1333345587
|
|
NM_001372044.2(SHANK3):c.1794C>A (p.Asp598Glu)
|
rs2146800699
|
|
NM_001372044.2(SHANK3):c.1827C>A (p.Asp609Glu)
|
|
|
NM_001372044.2(SHANK3):c.2149G>A (p.Gly717Arg)
|
rs1569108417
|
|
NM_001372044.2(SHANK3):c.2220-23C>T
|
|
|
NM_001372044.2(SHANK3):c.2236G>A (p.Asp746Asn)
|
|
|
NM_001372044.2(SHANK3):c.2294C>T (p.Thr765Ile)
|
rs2146810295
|
|
NM_001372044.2(SHANK3):c.2325-8C>A
|
|
|
NM_001372044.2(SHANK3):c.2353A>G (p.Lys785Glu)
|
|
|
NM_001372044.2(SHANK3):c.2357G>C (p.Gly786Ala)
|
|
|
NM_001372044.2(SHANK3):c.2361G>C (p.Glu787Asp)
|
|
|
NM_001372044.2(SHANK3):c.2459C>A (p.Thr820Asn)
|
|
|
NM_001372044.2(SHANK3):c.2507A>G (p.Gln836Arg)
|
rs2083239098
|
|
NM_001372044.2(SHANK3):c.2545C>T (p.Arg849Trp)
|
|
|
NM_001372044.2(SHANK3):c.2588A>G (p.Lys863Arg)
|
|
|
NM_001372044.2(SHANK3):c.2617C>T (p.Pro873Ser)
|
|
|
NM_001372044.2(SHANK3):c.2639A>G (p.Asp880Gly)
|
|
|
NM_001372044.2(SHANK3):c.2641C>A (p.Pro881Thr)
|
|
|
NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro)
|
rs2083272071
|
|
NM_001372044.2(SHANK3):c.2652G>C (p.Glu884Asp)
|
|
|
NM_001372044.2(SHANK3):c.2728C>T (p.Pro910Ser)
|
|
|
NM_001372044.2(SHANK3):c.2842C>G (p.Pro948Ala)
|
|
|
NM_001372044.2(SHANK3):c.2849C>G (p.Ala950Gly)
|
rs1326735946
|
|
NM_001372044.2(SHANK3):c.2877G>C (p.Glu959Asp)
|
|
|
NM_001372044.2(SHANK3):c.2891C>G (p.Ala964Gly)
|
|
|
NM_001372044.2(SHANK3):c.2897C>A (p.Ser966Tyr)
|
|
|
NM_001372044.2(SHANK3):c.2957_2971del (p.Ala986_Pro990del)
|
rs1048276757
|
|
NM_001372044.2(SHANK3):c.2971_2979dup (p.Pro993_Lys994insGluArgPro)
|
|
|
NM_001372044.2(SHANK3):c.2986C>T (p.Arg996Trp)
|
rs2083275877
|
|
NM_001372044.2(SHANK3):c.3001G>A (p.Gly1001Ser)
|
|
|
NM_001372044.2(SHANK3):c.3004C>T (p.Pro1002Ser)
|
|
|
NM_001372044.2(SHANK3):c.3021C>A (p.Ala1007=)
|
rs1367333501
|
|
NM_001372044.2(SHANK3):c.3074G>A (p.Arg1025His)
|
rs1231632189
|
|
NM_001372044.2(SHANK3):c.3082C>T (p.Pro1028Ser)
|
|
|
NM_001372044.2(SHANK3):c.3083C>G (p.Pro1028Arg)
|
rs779406129
|
|
NM_001372044.2(SHANK3):c.3128C>A (p.Ala1043Asp)
|
rs2146829940
|
|
NM_001372044.2(SHANK3):c.3173G>C (p.Arg1058Pro)
|
rs1000364280
|
|
NM_001372044.2(SHANK3):c.3202C>A (p.Arg1068Ser)
|
rs2083278623
|
|
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr)
|
rs1555910078
|
|
NM_001372044.2(SHANK3):c.3277C>T (p.Arg1093Trp)
|
|
|
NM_001372044.2(SHANK3):c.3322G>A (p.Gly1108Arg)
|
rs1555910097
|
|
NM_001372044.2(SHANK3):c.334C>T (p.Gln112Ter)
|
rs547796852
|
|
NM_001372044.2(SHANK3):c.3374C>T (p.Ser1125Phe)
|
rs1603447124
|
|
NM_001372044.2(SHANK3):c.3390G>T (p.Glu1130Asp)
|
|
|
NM_001372044.2(SHANK3):c.3398T>C (p.Leu1133Pro)
|
rs2146830640
|
|
NM_001372044.2(SHANK3):c.3408C>G (p.Gly1136=)
|
rs748205250
|
|
NM_001372044.2(SHANK3):c.3443C>T (p.Pro1148Leu)
|
|
|
NM_001372044.2(SHANK3):c.3460C>T (p.Pro1154Ser)
|
|
|
NM_001372044.2(SHANK3):c.3526C>G (p.Pro1176Ala)
|
rs1385920913
|
|
NM_001372044.2(SHANK3):c.3561G>T (p.Leu1187=)
|
rs2083283470
|
|
NM_001372044.2(SHANK3):c.3566C>T (p.Ala1189Val)
|
|
|
NM_001372044.2(SHANK3):c.356A>G (p.Asn119Ser)
|
|
|
NM_001372044.2(SHANK3):c.3592G>C (p.Ala1198Pro)
|
rs2146831056
|
|
NM_001372044.2(SHANK3):c.3595C>T (p.Pro1199Ser)
|
rs2146831070
|
|
NM_001372044.2(SHANK3):c.3626C>A (p.Pro1209His)
|
|
|
NM_001372044.2(SHANK3):c.3626C>G (p.Pro1209Arg)
|
|
|
NM_001372044.2(SHANK3):c.3636C>G (p.Asp1212Glu)
|
rs2146831187
|
|
NM_001372044.2(SHANK3):c.3646C>G (p.Pro1216Ala)
|
|
|
NM_001372044.2(SHANK3):c.3661G>A (p.Val1221Ile)
|
rs2146831275
|
|
NM_001372044.2(SHANK3):c.3712C>T (p.Pro1238Ser)
|
|
|
NM_001372044.2(SHANK3):c.3793G>A (p.Asp1265Asn)
|
|
|
NM_001372044.2(SHANK3):c.3880C>G (p.Gln1294Glu)
|
|
|
NM_001372044.2(SHANK3):c.3916C>G (p.Arg1306Gly)
|
rs765080418
|
|
NM_001372044.2(SHANK3):c.3928C>T (p.Pro1310Ser)
|
|
|
NM_001372044.2(SHANK3):c.3950T>G (p.Met1317Arg)
|
|
|
NM_001372044.2(SHANK3):c.3991G>T (p.Ala1331Ser)
|
|
|
NM_001372044.2(SHANK3):c.4027C>T (p.Pro1343Ser)
|
|
|
NM_001372044.2(SHANK3):c.4036G>C (p.Gly1346Arg)
|
rs1433943238
|
|
NM_001372044.2(SHANK3):c.4040G>A (p.Ser1347Asn)
|
rs2146832312
|
|
NM_001372044.2(SHANK3):c.4061T>G (p.Leu1354Arg)
|
|
|
NM_001372044.2(SHANK3):c.4081C>T (p.Pro1361Ser)
|
rs1219979283
|
|
NM_001372044.2(SHANK3):c.409G>C (p.Gly137Arg)
|
|
|
NM_001372044.2(SHANK3):c.4105G>C (p.Asp1369His)
|
|
|
NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del)
|
rs1462066038
|
|
NM_001372044.2(SHANK3):c.4169A>C (p.Asn1390Thr)
|
|
|
NM_001372044.2(SHANK3):c.4198G>A (p.Gly1400Ser)
|
|
|
NM_001372044.2(SHANK3):c.4224G>T (p.Val1408=)
|
|
|
NM_001372044.2(SHANK3):c.4261C>A (p.Pro1421Thr)
|
rs752824629
|
|
NM_001372044.2(SHANK3):c.4264C>T (p.Pro1422Ser)
|
rs1398660041
|
|
NM_001372044.2(SHANK3):c.4268C>G (p.Ala1423Gly)
|
rs756226608
|
|
NM_001372044.2(SHANK3):c.4438T>C (p.Phe1480Leu)
|
rs1444005320
|
|
NM_001372044.2(SHANK3):c.4508C>T (p.Thr1503Ile)
|
rs767385272
|
|
NM_001372044.2(SHANK3):c.4634G>A (p.Arg1545Lys)
|
rs2146833546
|
|
NM_001372044.2(SHANK3):c.4658T>C (p.Val1553Ala)
|
rs552048572
|
|
NM_001372044.2(SHANK3):c.4709G>C (p.Ser1570Thr)
|
|
|
NM_001372044.2(SHANK3):c.4717A>G (p.Ser1573Gly)
|
|
|
NM_001372044.2(SHANK3):c.473C>T (p.Thr158Met)
|
|
|
NM_001372044.2(SHANK3):c.4750C>T (p.Arg1584Cys)
|
|
|
NM_001372044.2(SHANK3):c.4813C>T (p.Pro1605Ser)
|
rs1569116634
|
|
NM_001372044.2(SHANK3):c.4901C>T (p.Ala1634Val)
|
|
|
NM_001372044.2(SHANK3):c.4904C>T (p.Ser1635Leu)
|
|
|
NM_001372044.2(SHANK3):c.4910C>T (p.Ser1637Leu)
|
rs1064796872
|
|
NM_001372044.2(SHANK3):c.4990G>A (p.Gly1664Arg)
|
|
|
NM_001372044.2(SHANK3):c.500A>G (p.Tyr167Cys)
|
rs2146768702
|
|
NM_001372044.2(SHANK3):c.5057C>G (p.Ser1686Trp)
|
rs2083359701
|
|
NM_001372044.2(SHANK3):c.506G>A (p.Arg169Gln)
|
rs2082921353
|
|
NM_001372044.2(SHANK3):c.511G>C (p.Val171Leu)
|
|
|
NM_001372044.2(SHANK3):c.5182G>A (p.Ala1728Thr)
|
|
|
NM_001372044.2(SHANK3):c.5209C>G (p.Gln1737Glu)
|
rs1294272918
|
|
NM_001372044.2(SHANK3):c.521A>G (p.Gln174Arg)
|
rs2146768744
|
|
NM_001372044.2(SHANK3):c.5224C>G (p.Leu1742Val)
|
rs1036266314
|
|
NM_001372044.2(SHANK3):c.5225T>C (p.Leu1742Pro)
|
rs2146843947
|
|
NM_001372044.2(SHANK3):c.5287C>T (p.Arg1763Cys)
|
|
|
NM_001372044.2(SHANK3):c.5372G>A (p.Gly1791Asp)
|
rs2146844132
|
|
NM_001372044.2(SHANK3):c.5396C>G (p.Ala1799Gly)
|
|
|
NM_001372044.2(SHANK3):c.613A>C (p.Lys205Gln)
|
|
|
NM_001372044.2(SHANK3):c.622C>T (p.Arg208Cys)
|
|
|
NM_001372044.2(SHANK3):c.677G>A (p.Cys226Tyr)
|
|
|
NM_001372044.2(SHANK3):c.682_683del (p.Leu228fs)
|
|
|
NM_001372044.2(SHANK3):c.799C>T (p.Arg267Cys)
|
|
|
NM_001372044.2(SHANK3):c.869G>T (p.Arg290Leu)
|
rs775487427
|
|
NM_001372044.2(SHANK3):c.871G>A (p.Gly291Ser)
|
|
|
NM_001372044.2(SHANK3):c.878C>T (p.Thr293Ile)
|
rs2146772569
|
|
NM_001372044.2(SHANK3):c.887A>G (p.Tyr296Cys)
|
rs2082939036
|
|
NM_001372044.2(SHANK3):c.8T>C (p.Leu3Pro)
|
|
|
NM_001372044.2(SHANK3):c.901G>C (p.Gly301Arg)
|
|
|
NM_001372044.2(SHANK3):c.940G>A (p.Asp314Asn)
|
|
|
NM_033517.1:c.4338G>C
|
rs2146833382
|
|