ClinVar Miner

List of variants in gene MECP2 studied for epilepsy

Included ClinVar conditions (435):
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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1012
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01726
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738 0.00291
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) rs61752362 0.00157
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) rs61750252 0.00050
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245 0.00046
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253 0.00042
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00041
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) rs140191561 0.00035
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) rs61750251 0.00022
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397 0.00020
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00019
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=) rs63586860 0.00019
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739 0.00019
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) rs61749712 0.00017
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00015
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=) rs199540575 0.00015
NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro) rs782243032 0.00015
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=) rs61751363 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001110792.2(MECP2):c.75A>G (p.Ser25=) rs782561844 0.00015
NM_001110792.2(MECP2):c.771C>G (p.Val257=) rs782027467 0.00013
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00013
NM_001110792.2(MECP2):c.897C>T (p.Ala299=) rs139378224 0.00013
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001110792.2(MECP2):c.171C>T (p.Pro57=) rs139477857 0.00012
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731 0.00012
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435 0.00010
NM_001110792.2(MECP2):c.639G>A (p.Ala213=) rs267608504 0.00010
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) rs61748422 0.00010
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) rs63094662 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00009
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00009
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626 0.00009
NM_001110792.2(MECP2):c.627G>A (p.Thr209=) rs61749716 0.00009
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala) rs63485860 0.00009
NM_001110792.2(MECP2):c.756C>T (p.Thr252=) rs61749746 0.00009
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) rs61750243 0.00009
NM_001110792.2(MECP2):c.861G>A (p.Val287=) rs782202718 0.00009
NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu) rs61748387 0.00008
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_001110792.2(MECP2):c.551C>T (p.Pro184Leu) rs267608491 0.00008
NM_001110792.2(MECP2):c.642C>T (p.Ala214=) rs782254448 0.00008
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=) rs61753964 0.00007
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) rs61752361 0.00006
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236 0.00006
NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser) rs782050077 0.00006
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001110792.2(MECP2):c.414-20C>G rs368684221 0.00006
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly) rs138211345 0.00006
NM_001110792.2(MECP2):c.90C>G (p.Leu30=) rs372500343 0.00006
NM_001110792.2(MECP2):c.1058G>A (p.Ser353Asn) rs782708218 0.00005
NM_001110792.2(MECP2):c.107A>G (p.Lys36Arg) rs782344115 0.00005
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) rs61752371 0.00005
NM_001110792.2(MECP2):c.1211A>C (p.Glu404Ala) rs1557135593 0.00005
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu) rs62915962 0.00005
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu) rs376324027 0.00005
NM_001110792.2(MECP2):c.1353G>A (p.Ala451=) rs146632223 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp) rs267608336 0.00005
NM_001110792.2(MECP2):c.456G>A (p.Ala152=) rs782082759 0.00005
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) rs61748413 0.00005
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg) rs61749701 0.00005
NM_001110792.2(MECP2):c.696C>T (p.Leu232=) rs267608512 0.00005
NM_001110792.2(MECP2):c.780C>G (p.Ile260Met) rs782086243 0.00005
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser) rs201871183 0.00004
NM_001110792.2(MECP2):c.1120C>G (p.Pro374Ala) rs782171742 0.00004
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser) rs61752981 0.00004
NM_001110792.2(MECP2):c.1190C>A (p.Pro397His) rs111302745 0.00004
NM_001110792.2(MECP2):c.1223C>T (p.Ser408Phe) rs782125862 0.00004
NM_001110792.2(MECP2):c.1244C>T (p.Pro415Leu) rs587783107 0.00004
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=) rs781825661 0.00004
NM_001110792.2(MECP2):c.750G>A (p.Gly250=) rs369813305 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00004
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met) rs587783140 0.00004
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) rs781968415 0.00003
NM_001110792.2(MECP2):c.1185C>T (p.Leu395=) rs782385010 0.00003
NM_001110792.2(MECP2):c.1191C>T (p.Pro397=) rs370226935 0.00003
NM_001110792.2(MECP2):c.1230C>T (p.Asp410=) rs782741920 0.00003
NM_001110792.2(MECP2):c.1231C>T (p.Pro411Ser) rs797045691 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1314C>T (p.Ser438=) rs267608619 0.00003
NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val) rs782805738 0.00003
NM_001110792.2(MECP2):c.1359C>T (p.Ala453=) rs781964746 0.00003
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val) rs375101073 0.00003
NM_001110792.2(MECP2):c.1374C>T (p.Ala458=) rs782496297 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.172G>A (p.Val58Met) rs587783134 0.00003
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) rs267608440 0.00003
NM_001110792.2(MECP2):c.261G>A (p.Pro87=) rs61754442 0.00003
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp) rs782320257 0.00003
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00003
NM_001110792.2(MECP2):c.417C>G (p.Pro139=) rs782752095 0.00003
NM_001110792.2(MECP2):c.484C>T (p.Leu162=) rs371082040 0.00003
NM_001110792.2(MECP2):c.531C>T (p.Pro177=) rs376821032 0.00003
NM_001110792.2(MECP2):c.549A>G (p.Lys183=) rs781872600 0.00003
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys) rs782314807 0.00003
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly) rs587783138 0.00003
NM_001110792.2(MECP2):c.656T>C (p.Val219Ala) rs868943420 0.00003
NM_001110792.2(MECP2):c.726A>C (p.Pro242=) rs61749740 0.00003
NM_001110792.2(MECP2):c.852G>A (p.Pro284=) rs587783746 0.00003
NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr) rs782086416 0.00003
NM_001110792.2(MECP2):c.967A>G (p.Thr323Ala) rs782208190 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.108A>G (p.Lys36=) rs782202329 0.00002
NM_001110792.2(MECP2):c.1109C>T (p.Ala370Val) rs1158736298 0.00002
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) rs61752373 0.00002
NM_001110792.2(MECP2):c.1153T>C (p.Ser385Pro) rs782420258 0.00002
NM_001110792.2(MECP2):c.1168G>A (p.Ala390Thr) rs587783106 0.00002
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676 0.00002
NM_001110792.2(MECP2):c.1239C>T (p.Ser413=) rs782230851 0.00002
NM_001110792.2(MECP2):c.1315G>A (p.Asp439Asn) rs782217947 0.00002
NM_001110792.2(MECP2):c.1317C>T (p.Asp439=) rs374900442 0.00002
NM_001110792.2(MECP2):c.1324C>T (p.Pro442Ser) rs267608622 0.00002
NM_001110792.2(MECP2):c.1325C>T (p.Pro442Leu) rs930563451 0.00002
NM_001110792.2(MECP2):c.1408C>T (p.Arg470Cys) rs267608628 0.00002
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys) rs587777421 0.00002
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) rs267608370 0.00002
NM_001110792.2(MECP2):c.189C>T (p.His63=) rs267608432 0.00002
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val) rs1557137890 0.00002
NM_001110792.2(MECP2):c.251C>T (p.Pro84Leu) rs61754440 0.00002
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg) rs61754444 0.00002
NM_001110792.2(MECP2):c.413+18C>G rs267608461 0.00002
NM_001110792.2(MECP2):c.414-6C>G rs782482746 0.00002
NM_001110792.2(MECP2):c.414T>C (p.Asn138=) rs782035249 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser) rs782419414 0.00002
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) rs587783137 0.00002
NM_001110792.2(MECP2):c.609C>G (p.Pro203=) rs61749710 0.00002
NM_001110792.2(MECP2):c.632C>G (p.Pro211Arg) rs267608502 0.00002
NM_001110792.2(MECP2):c.645G>A (p.Thr215=) rs61749722 0.00002
NM_001110792.2(MECP2):c.702C>G (p.Val234=) rs61749735 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001110792.2(MECP2):c.81C>T (p.Asp27=) rs782168400 0.00002
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) rs61750257 0.00002
NM_001110792.2(MECP2):c.908C>G (p.Ser303Cys) rs1326849768 0.00002
NM_001110792.2(MECP2):c.918A>G (p.Arg306=) rs782744332 0.00002
NM_001110792.2(MECP2):c.954C>G (p.Arg318=) rs782383967 0.00002
NM_001110792.2(MECP2):c.969G>A (p.Thr323=) rs782335201 0.00002
NM_001110792.2(MECP2):c.1013C>A (p.Ser338Tyr) rs1557136107 0.00001
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) rs267608556 0.00001
NM_001110792.2(MECP2):c.1055A>G (p.Lys352Arg) rs781944561 0.00001
NM_001110792.2(MECP2):c.1059C>T (p.Ser353=) rs2065932294 0.00001
NM_001110792.2(MECP2):c.1086C>T (p.Ser362=) rs1557136001 0.00001
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=) rs782242577 0.00001
NM_001110792.2(MECP2):c.1098C>T (p.Arg366=) rs782228941 0.00001
NM_001110792.2(MECP2):c.1129_1134del (p.Glu377_His378del) rs2065928263 0.00001
NM_001110792.2(MECP2):c.1131G>A (p.Glu377=) rs782085130 0.00001
NM_001110792.2(MECP2):c.1137C>G (p.His379Gln) rs1336019373 0.00001
NM_001110792.2(MECP2):c.1137C>T (p.His379=) rs1336019373 0.00001
NM_001110792.2(MECP2):c.1141C>T (p.His381Tyr) rs1346803557 0.00001
NM_001110792.2(MECP2):c.114C>G (p.Leu38=) rs1557138002 0.00001
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr) rs375477214 0.00001
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=) rs782221170 0.00001
NM_001110792.2(MECP2):c.1167G>A (p.Lys389=) rs1557135820 0.00001
NM_001110792.2(MECP2):c.1170C>T (p.Ala390=) rs782751264 0.00001
NM_001110792.2(MECP2):c.1172C>T (p.Pro391Leu) rs971722789 0.00001
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe) rs1340029095 0.00001
NM_001110792.2(MECP2):c.1186C>T (p.Pro396Ser) rs373116070 0.00001
NM_001110792.2(MECP2):c.118T>C (p.Phe40Leu) rs1557137994 0.00001
NM_001110792.2(MECP2):c.1195C>A (p.Pro399Thr) rs1171658384 0.00001
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) rs61753006 0.00001
NM_001110792.2(MECP2):c.1209T>A (p.Pro403=) rs1569548322 0.00001
NM_001110792.2(MECP2):c.1212G>A (p.Glu404=) rs61753009 0.00001
NM_001110792.2(MECP2):c.1221C>T (p.Ser407=) rs782775618 0.00001
NM_001110792.2(MECP2):c.1228G>T (p.Asp410Tyr) rs1557135428 0.00001
NM_001110792.2(MECP2):c.1235C>T (p.Thr412Ile) rs782420809 0.00001
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn) rs62707562 0.00001
NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr) rs150146088 0.00001
NM_001110792.2(MECP2):c.1249C>T (p.Pro417Ser) rs781786825 0.00001
NM_001110792.2(MECP2):c.1253A>C (p.Gln418Pro) rs782638259 0.00001
NM_001110792.2(MECP2):c.1271T>C (p.Val424Ala) rs782598922 0.00001
NM_001110792.2(MECP2):c.1275C>T (p.Cys425=) rs61753967 0.00001
NM_001110792.2(MECP2):c.1301G>A (p.Gly434Asp) rs1557135148 0.00001
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=) rs267608621 0.00001
NM_001110792.2(MECP2):c.1323C>T (p.Cys441=) rs782638563 0.00001
NM_001110792.2(MECP2):c.1327A>C (p.Lys443Gln) rs781829911 0.00001
NM_001110792.2(MECP2):c.1350C>T (p.Pro450=) rs782798565 0.00001
NM_001110792.2(MECP2):c.1354G>C (p.Val452Leu) rs1557135085 0.00001
NM_001110792.2(MECP2):c.1365C>T (p.Ala455=) rs782706777 0.00001
NM_001110792.2(MECP2):c.1368C>T (p.Ala456=) rs1204809030 0.00001
NM_001110792.2(MECP2):c.1373C>T (p.Ala458Val) rs782608788 0.00001
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val) rs61753978 0.00001
NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln) rs61753980 0.00001
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) rs267608633 0.00001
NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser) rs267608636 0.00001
NM_001110792.2(MECP2):c.1476C>T (p.Pro492=) rs782677867 0.00001
NM_001110792.2(MECP2):c.1482C>T (p.Thr494=) rs76895094 0.00001
NM_001110792.2(MECP2):c.1489G>C (p.Val497Leu) rs782487090 0.00001
NM_001110792.2(MECP2):c.186C>T (p.Ala62=) rs2065988537 0.00001
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val) rs150900180 0.00001
NM_001110792.2(MECP2):c.252G>A (p.Pro84=) rs781942427 0.00001
NM_001110792.2(MECP2):c.279C>G (p.Pro93=) rs1557137825 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001110792.2(MECP2):c.290G>A (p.Arg97His) rs782226571 0.00001
NM_001110792.2(MECP2):c.301C>T (p.Arg101Cys) rs782601477 0.00001
NM_001110792.2(MECP2):c.315C>T (p.Pro105=) rs267608447 0.00001
NM_001110792.2(MECP2):c.358C>G (p.Leu120Val) rs1557137721 0.00001
NM_001110792.2(MECP2):c.40G>A (p.Gly14Arg) rs1392399136 0.00001
NM_001110792.2(MECP2):c.413+24C>A rs267608462 0.00001
NM_001110792.2(MECP2):c.44G>A (p.Gly15Glu) rs1333935838 0.00001
NM_001110792.2(MECP2):c.464A>C (p.Glu155Ala) rs1557137072 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001110792.2(MECP2):c.477C>G (p.Asp159Glu) rs782468872 0.00001
NM_001110792.2(MECP2):c.478A>G (p.Thr160Ala) rs1282284627 0.00001
NM_001110792.2(MECP2):c.486G>C (p.Leu162=) rs1060504124 0.00001
NM_001110792.2(MECP2):c.552A>G (p.Pro184=) rs1169814545 0.00001
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492 0.00001
NM_001110792.2(MECP2):c.55G>A (p.Glu19Lys) rs782789719 0.00001
NM_001110792.2(MECP2):c.573C>G (p.Pro191=) rs782676768 0.00001
NM_001110792.2(MECP2):c.579T>C (p.Ala193=) rs1557136875 0.00001
NM_001110792.2(MECP2):c.582A>G (p.Pro194=) rs1275293022 0.00001
NM_001110792.2(MECP2):c.597C>A (p.Gly199=) rs200074866 0.00001
NM_001110792.2(MECP2):c.598C>T (p.Arg200Trp) rs782467549 0.00001
NM_001110792.2(MECP2):c.63-8C>T rs267608410 0.00001
NM_001110792.2(MECP2):c.631C>T (p.Pro211Ser) rs373329231 0.00001
NM_001110792.2(MECP2):c.633C>G (p.Pro211=) rs782619288 0.00001
NM_001110792.2(MECP2):c.672C>A (p.Val224=) rs1557136728 0.00001
NM_001110792.2(MECP2):c.682A>G (p.Ser228Gly) rs782777382 0.00001
NM_001110792.2(MECP2):c.68A>G (p.Glu23Gly) rs782735472 0.00001
NM_001110792.2(MECP2):c.723G>T (p.Ser241=) rs782461567 0.00001
NM_001110792.2(MECP2):c.724C>G (p.Pro242Ala) rs1209806388 0.00001
NM_001110792.2(MECP2):c.745G>A (p.Gly249Ser) rs782493538 0.00001
NM_001110792.2(MECP2):c.753C>T (p.Ala251=) rs1057520963 0.00001
NM_001110792.2(MECP2):c.759A>G (p.Thr253=) rs1416619132 0.00001
NM_001110792.2(MECP2):c.80A>C (p.Asp27Ala) rs1557138051 0.00001
NM_001110792.2(MECP2):c.825C>T (p.Ala275=) rs782444398 0.00001
NM_001110792.2(MECP2):c.826A>G (p.Ile276Val) rs1181961523 0.00001
NM_001110792.2(MECP2):c.831C>G (p.Pro277=) rs267608527 0.00001
NM_001110792.2(MECP2):c.840G>A (p.Arg280=) rs2065942686 0.00001
NM_001110792.2(MECP2):c.846A>G (p.Arg282=) rs782743949 0.00001
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala) rs143989769 0.00001
NM_001110792.2(MECP2):c.888A>G (p.Lys296=) rs1475733695 0.00001
NM_001110792.2(MECP2):c.898G>A (p.Val300Met) rs782455664 0.00001
NM_001110792.2(MECP2):c.911C>G (p.Ser304Cys) rs1557136290 0.00001
NM_001110792.2(MECP2):c.913A>G (p.Ile305Val) rs1557136286 0.00001
NM_001110792.2(MECP2):c.917G>A (p.Arg306Gln) rs61751366 0.00001
NM_001110792.2(MECP2):c.984C>G (p.Val328=) rs61751447 0.00001
NM_001110792.2(MECP2):c.990A>G (p.Glu330=) rs141454727 0.00001
NC_000023.10:g.(?_153285725)_(153296182_?)del
NC_000023.10:g.(?_153288018)_(153296120_?)del
NC_000023.10:g.(?_153292262)_(153297628_?)del
NC_000023.10:g.(?_153292375)_(153296122_?)del
NC_000023.10:g.(?_153292923)_(153296117_?)del
NC_000023.10:g.(?_153294907)_(153296120_?)del
NC_000023.10:g.(?_153294955)_(153296040_?)del
NC_000023.10:g.(?_153295063)_(153296130_?)del
NC_000023.10:g.(?_153295250)_(153296129_?)del
NC_000023.10:g.(?_153295412)_(153306710_?)del
NC_000023.10:g.(?_153295424)_(153296139_?)del
NC_000023.10:g.(?_153295526)_(153296087_?)del
NC_000023.10:g.(?_153295580)_(153296752_?)del
NC_000023.10:g.(?_153295726)_(153298028_?)del
NC_000023.10:g.(?_153295726)_(153298028_?)dup
NC_000023.10:g.(?_153295726)_(153363142_?)dup
NC_000023.10:g.(?_153295798)_(153298028_?)del
NC_000023.10:g.(?_153295818)_(153298028_?)dup
NC_000023.10:g.(?_153295885)_(153296418_?)del
NC_000023.10:g.(?_153295985)_(153299903_?)del
NC_000023.10:g.(?_153296038)_(153299936_?)del
NC_000023.10:g.(?_153296083)_(153297178_?)del
NC_000023.10:g.(?_153296084)_(153300925_?)del
NC_000023.10:g.(?_153296084)_(153338974_?)del
NC_000023.10:g.(?_153296086)_(153297264_?)del
NC_000023.10:g.(?_153296091)_(153303781_?)del
NC_000023.10:g.(?_153296093)_(153303797_?)del
NC_000023.10:g.(?_153296108)_(153301856_?)del
NC_000023.10:g.(?_153296109)_(153297633_?)del
NC_000023.10:g.(?_153296109)_(153302497_?)del
NC_000023.10:g.(?_153296112)_(153302496_?)del
NC_000023.10:g.(?_153296119)_(153305088_?)del
NC_000023.10:g.(?_153296122)_(153316446_?)dup
NC_000023.10:g.(?_153296136)_(153302300_?)del
NC_000023.10:g.(?_153296141)_(153303786_?)del
NC_000023.10:g.(?_153296154)_153302832del
NC_000023.10:g.(?_153296180)_(153302766_?)del
NC_000023.10:g.(?_153296231)_(153303837_?)del
NC_000023.10:g.(?_153296339)_(153306264_?)del
NC_000023.10:g.(?_153297634)_(153298028_?)del
NC_000023.10:g.(?_153297634)_(153298028_?)dup
NC_000023.10:g.(?_153357622)_(153363122_?)dup
NC_000023.10:g.(?_153357622)_(153363142_?)del
NC_000023.10:g.(?_153357632)_(153363122_?)del
NC_000023.10:g.(?_153363041)_(153363142_?)del
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1002C>T (p.Pro334=)
NM_001110792.2(MECP2):c.1006C>G (p.Leu336Val) rs2065934195
NM_001110792.2(MECP2):c.1007_1364del (p.Leu336fs)
NM_001110792.2(MECP2):c.1008G>C (p.Leu336=)
NM_001110792.2(MECP2):c.1014C>A (p.Ser338=)
NM_001110792.2(MECP2):c.1014C>T (p.Ser338=) rs374670136
NM_001110792.2(MECP2):c.1019_1233del (p.Leu340fs) rs2065914451
NM_001110792.2(MECP2):c.1020C>A (p.Leu340=) rs61751442
NM_001110792.2(MECP2):c.1020C>G (p.Leu340=)
NM_001110792.2(MECP2):c.1020_1021insA (p.Gly341fs) rs2148661665
NM_001110792.2(MECP2):c.1026G>C (p.Glu342Asp)
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg) rs267608557
NM_001110792.2(MECP2):c.1029G>C (p.Lys343Asn)
NM_001110792.2(MECP2):c.1030A>G (p.Ser344Gly) rs2148661618
NM_001110792.2(MECP2):c.1030_1031del (p.Ser344fs)
NM_001110792.2(MECP2):c.1031G>A (p.Ser344Asn) rs896762572
NM_001110792.2(MECP2):c.1033_1037del (p.Gly345fs) rs1569548376
NM_001110792.2(MECP2):c.1035G>A (p.Gly345=) rs61751451
NM_001110792.2(MECP2):c.1037A>G (p.Lys346Arg)
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs) rs1557135418
NM_001110792.2(MECP2):c.1044G>A (p.Leu348=)
NM_001110792.2(MECP2):c.1050C>T (p.Thr350=) rs267608400
NM_001110792.2(MECP2):c.1055dup (p.Ser353fs) rs1557136059
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu)
NM_001110792.2(MECP2):c.1060C>A (p.Pro354Thr)
NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg) rs1569548372
NM_001110792.2(MECP2):c.1064_1246del (p.Gly355_Pro415del) rs1603307609
NM_001110792.2(MECP2):c.1065G>A (p.Gly355=)
NM_001110792.2(MECP2):c.1068G>A (p.Arg356=)
NM_001110792.2(MECP2):c.1072A>G (p.Ser358Gly)
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg) rs61752365
NM_001110792.2(MECP2):c.1075A>C (p.Lys359Gln) rs2148661453
NM_001110792.2(MECP2):c.1075_1300delinsCCAAAGGCCCCCGTGCCACT (p.Lys359fs)
NM_001110792.2(MECP2):c.1077G>A (p.Lys359=) rs1043854626
NM_001110792.2(MECP2):c.1078_1248delinsT (p.Glu360fs)
NM_001110792.2(MECP2):c.1080G>C (p.Glu360Asp)
NM_001110792.2(MECP2):c.1083_1231delinsGTGTCTGCATACCTGA (p.Ser361_Pro411delinsArgCysLeuHisThrTer)
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del) rs267608384
NM_001110792.2(MECP2):c.1087_1209delinsACCACCACCA (p.Pro363fs)
NM_001110792.2(MECP2):c.1088C>T (p.Pro363Leu)
NM_001110792.2(MECP2):c.1091A>G (p.Lys364Arg) rs2148661393
NM_001110792.2(MECP2):c.1093G>A (p.Gly365Arg)
NM_001110792.2(MECP2):c.1095G>A (p.Gly365=) rs2065930750
NM_001110792.2(MECP2):c.1095G>T (p.Gly365=)
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del) rs267608564
NM_001110792.2(MECP2):c.1100G>A (p.Ser367Asn)
NM_001110792.2(MECP2):c.1102A>G (p.Ser368Gly) rs2148661316
NM_001110792.2(MECP2):c.1108G>T (p.Ala370Ser) rs147017239
NM_001110792.2(MECP2):c.1110C>T (p.Ala370=)
NM_001110792.2(MECP2):c.1111T>G (p.Ser371Ala)
NM_001110792.2(MECP2):c.1113C>T (p.Ser371=)
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr) rs2148661261
NM_001110792.2(MECP2):c.1117C>A (p.Pro373Thr) rs61752373
NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser) rs61752373
NM_001110792.2(MECP2):c.1118C>A (p.Pro373His)
NM_001110792.2(MECP2):c.1118C>T (p.Pro373Leu) rs782736700
NM_001110792.2(MECP2):c.1119C>A (p.Pro373=)
NM_001110792.2(MECP2):c.1119C>T (p.Pro373=) rs782803951
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser) rs782171742
NM_001110792.2(MECP2):c.1120_1252del (p.Pro374fs) rs2148659417
NM_001110792.2(MECP2):c.1121C>T (p.Pro374Leu) rs587783105
NM_001110792.2(MECP2):c.1122C>A (p.Pro374=)
NM_001110792.2(MECP2):c.1122C>G (p.Pro374=) rs1557135934
NM_001110792.2(MECP2):c.1122C>T (p.Pro374=)
NM_001110792.2(MECP2):c.1122_1265delinsAAGTCCTGGGGCT (p.Lys375fs)
NM_001110792.2(MECP2):c.1122del (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1123_1251del (p.Lys375_Pro417del)
NM_001110792.2(MECP2):c.1125G>A (p.Lys375=)
NM_001110792.2(MECP2):c.1126A>T (p.Lys376Ter)
NM_001110792.2(MECP2):c.1128G>A (p.Lys376=)
NM_001110792.2(MECP2):c.112C>G (p.Leu38Val) rs1603310890
NM_001110792.2(MECP2):c.112C>T (p.Leu38Phe)
NM_001110792.2(MECP2):c.1132C>G (p.His378Asp) rs2065928374
NM_001110792.2(MECP2):c.1133_1231del (p.His378_Asp410del)
NM_001110792.2(MECP2):c.1134C>T (p.His378=) rs1557135898
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del) rs61752381
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del) rs61752381
NM_001110792.2(MECP2):c.1134CCA[4] (p.His384dup) rs61752381
NM_001110792.2(MECP2):c.1136_*557del (p.His379fs)
NM_001110792.2(MECP2):c.1136_1215del (p.His379fs)
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
NM_001110792.2(MECP2):c.1138C>G (p.His380Asp) rs781968415
NM_001110792.2(MECP2):c.1140C>G (p.His380Gln)
NM_001110792.2(MECP2):c.1140C>T (p.His380=) rs61752382
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del) rs267608371
NM_001110792.2(MECP2):c.1143T>C (p.His381=) rs1557135877
NM_001110792.2(MECP2):c.1143_1145del (p.His384del) rs2148661055
NM_001110792.2(MECP2):c.1145A>G (p.His382Arg)
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln) rs2148660984
NM_001110792.2(MECP2):c.1151_1357del (p.His384_Ala453delinsPro) rs1557135080
NM_001110792.2(MECP2):c.1152C>G (p.His384Gln)
NM_001110792.2(MECP2):c.1152C>T (p.His384=)
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) rs1557135314
NM_001110792.2(MECP2):c.1156G>C (p.Glu386Gln) rs2148660959
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) rs1557135447
NM_001110792.2(MECP2):c.1160C>T (p.Ser387Phe)
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg) rs61752976
NM_001110792.2(MECP2):c.1163_1187del (p.Pro388fs)
NM_001110792.2(MECP2):c.1163_1233del (p.Pro388fs)
NM_001110792.2(MECP2):c.1165_1179del (p.Lys389_Pro393del) rs2065924353
NM_001110792.2(MECP2):c.1167G>C (p.Lys389Asn)
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser) rs587783106
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) rs1557135295
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1170C>A (p.Ala390=)
NM_001110792.2(MECP2):c.1170_1183del (p.Val392fs) rs2148660771
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1172_1215del (p.Pro391fs) rs2148660220
NM_001110792.2(MECP2):c.1173C>A (p.Pro391=) rs61752980
NM_001110792.2(MECP2):c.1173del (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001110792.2(MECP2):c.1179A>G (p.Pro393=)
NM_001110792.2(MECP2):c.1179_1183del (p.Leu394fs)
NM_001110792.2(MECP2):c.1179_1186del (p.Leu394fs) rs2148660746
NM_001110792.2(MECP2):c.1179_1190del (p.Leu395_Leu398del) rs2148660709
NM_001110792.2(MECP2):c.1179_1196del (p.Leu394_Pro399del) rs1291465065
NM_001110792.2(MECP2):c.1180dup (p.Leu394fs) rs2148660777
NM_001110792.2(MECP2):c.1181_1201del (p.Leu394_Pro400del)
NM_001110792.2(MECP2):c.1182_1229del (p.Leu395_Asp410del) rs2148659904
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del) rs782767712
NM_001110792.2(MECP2):c.1184_1228delinsC (p.Leu395fs)
NM_001110792.2(MECP2):c.1185C>G (p.Leu395=) rs782385010
NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs) rs267608574
NM_001110792.2(MECP2):c.1188A>G (p.Pro396=)
NM_001110792.2(MECP2):c.1188_1207del (p.Pro396_Pro397insTer) rs1557135631
NM_001110792.2(MECP2):c.1188_1208del (p.Pro397_Pro403del)
NM_001110792.2(MECP2):c.1188_1226delinsGGAGCTCTCGGGTGGTGGT (p.Pro397fs)
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) rs267608372
NM_001110792.2(MECP2):c.1189C>A (p.Pro397Thr) rs782279709
NM_001110792.2(MECP2):c.1189C>T (p.Pro397Ser)
NM_001110792.2(MECP2):c.1190C>G (p.Pro397Arg)
NM_001110792.2(MECP2):c.1190C>T (p.Pro397Leu)
NM_001110792.2(MECP2):c.1190_1226delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro397_Glu409delinsGlnGlnAsnSerProProTer) rs1569548307
NM_001110792.2(MECP2):c.1190_1269del (p.Pro397fs)
NM_001110792.2(MECP2):c.1191C>A (p.Pro397=)
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.2(MECP2):c.1191_1205del (p.Leu398_Pro402del) rs2148660412
NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del) rs267608392
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1192C>T (p.Leu398=)
NM_001110792.2(MECP2):c.1192_1202del (p.Leu398fs)
NM_001110792.2(MECP2):c.1192_1224del (p.Leu398_Ser408del) rs1569548314
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs)
NM_001110792.2(MECP2):c.1193T>C (p.Leu398Pro)
NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del) rs1569548334
NM_001110792.2(MECP2):c.1193_1204del (p.Leu398_Pro401del) rs2148660433
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs) rs267608585
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1194G>A (p.Leu398=)
NM_001110792.2(MECP2):c.1194_*3444del (p.Pro399fs)
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser) rs1171658384
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs) rs267608373
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) rs1557135251
NM_001110792.2(MECP2):c.1195_1279del (p.Pro399fs) rs2065908727
NM_001110792.2(MECP2):c.1196_1275del (p.Pro399fs)
NM_001110792.2(MECP2):c.1197C>G (p.Pro399=)
NM_001110792.2(MECP2):c.1197_1199del (p.Pro403del) rs267608339
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del) rs267608332
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del) rs267608401
NM_001110792.2(MECP2):c.1197_1208del (p.Pro400_Pro403del)
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala) rs61753000
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) rs2065919863
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del) rs267608406
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del) rs782783878
NM_001110792.2(MECP2):c.1199_1204delinsTCAGGTATAT (p.Pro400fs)
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1199_1237del (p.Pro400_Ser413delinsArg) rs267608602
NM_001110792.2(MECP2):c.1199del (p.Pro400fs) rs267608339
NM_001110792.2(MECP2):c.1200A>G (p.Pro400=)
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del) rs267608604
NM_001110792.2(MECP2):c.1200_1220del (p.Pro401_Ser407del) rs1557135539
NM_001110792.2(MECP2):c.1200_1223del (p.Pro401_Ser408del) rs2148660070
NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs) rs2148660011
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer)
NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs) rs267608607
NM_001110792.2(MECP2):c.1201_1237del (p.Pro401fs) rs2148659670
NM_001110792.2(MECP2):c.1202C>G (p.Pro401Arg)
NM_001110792.2(MECP2):c.1203T>A (p.Pro401=) rs1469109249
NM_001110792.2(MECP2):c.1203T>C (p.Pro401=)
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs) rs267608343
NM_001110792.2(MECP2):c.1204C>T (p.Pro402Ser)
NM_001110792.2(MECP2):c.1206A>T (p.Pro402=)
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr) rs781794820
NM_001110792.2(MECP2):c.1207C>G (p.Pro403Ala) rs781794820
NM_001110792.2(MECP2):c.1211_1234del (p.Glu404_Thr412delinsAla)
NM_001110792.2(MECP2):c.1213C>T (p.Pro405Ser)
NM_001110792.2(MECP2):c.1213_1226del (p.Pro405fs)
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) rs267608402
NM_001110792.2(MECP2):c.1215C>G (p.Pro405=) rs781898011
NM_001110792.2(MECP2):c.1215C>T (p.Pro405=) rs781898011
NM_001110792.2(MECP2):c.1216_1233del (p.Glu406_Pro411del) rs1557135368
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) rs782746707
NM_001110792.2(MECP2):c.1218G>A (p.Glu406=) rs1603307819
NM_001110792.2(MECP2):c.1219A>G (p.Ser407Gly) rs1603307813
NM_001110792.2(MECP2):c.1222_1313del (p.Ser408fs)
NM_001110792.2(MECP2):c.1223_1365del (p.Ser408fs)
NM_001110792.2(MECP2):c.1236C>G (p.Thr412=) rs2148659708
NM_001110792.2(MECP2):c.1239C>G (p.Ser413Arg)
NM_001110792.2(MECP2):c.1240C>T (p.Pro414Ser) rs150146088
NM_001110792.2(MECP2):c.1241C>A (p.Pro414His) rs61753014
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1242_1244del (p.Pro415del)
NM_001110792.2(MECP2):c.1243C>A (p.Pro415Thr)
NM_001110792.2(MECP2):c.1243C>G (p.Pro415Ala) rs782495086
NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser)
NM_001110792.2(MECP2):c.1243_*586del (p.Pro415fs)
NM_001110792.2(MECP2):c.1244C>A (p.Pro415His) rs587783107
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1248_1249delinsAT (p.Pro417Ser)
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.1254G>A (p.Gln418=)
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) rs2065910235
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del) rs2065909462
NM_001110792.2(MECP2):c.1266C>T (p.Ser422=)
NM_001110792.2(MECP2):c.1267_*76del (p.Val424fs)
NM_001110792.2(MECP2):c.1268G>C (p.Ser423Thr) rs2065909517
NM_001110792.2(MECP2):c.1268dup (p.Ser423fs) rs2148659330
NM_001110792.2(MECP2):c.1269_1270delinsTT (p.Val424Phe) rs2065909328
NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly) rs782598922
NM_001110792.2(MECP2):c.1275_*863del (p.Cys425_Ter499delinsXaa)
NM_001110792.2(MECP2):c.1277A>G (p.Lys426Arg) rs2148659263
NM_001110792.2(MECP2):c.1277_1278del (p.Lys426fs) rs2148659257
NM_001110792.2(MECP2):c.1278A>G (p.Lys426=)
NM_001110792.2(MECP2):c.1279GAG[1] (p.Glu428del) rs781918838
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met) rs61753968
NM_001110792.2(MECP2):c.1287G>A (p.Lys429=) rs2148659210
NM_001110792.2(MECP2):c.1288A>G (p.Met430Val)
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr) rs1210814372
NM_001110792.2(MECP2):c.129G>A (p.Val43=) rs1194365979
NM_001110792.2(MECP2):c.1302C>G (p.Gly434=) rs61753970
NM_001110792.2(MECP2):c.1303_1334del (p.Ser435_Leu436insTer)
NM_001110792.2(MECP2):c.1308G>A (p.Leu436=)
NM_001110792.2(MECP2):c.1309G>C (p.Glu437Gln)
NM_001110792.2(MECP2):c.1311G>A (p.Glu437=) rs2148659080
NM_001110792.2(MECP2):c.1314_1315insCGTCACTA (p.Asp439delinsArgHisTer) rs2065907185
NM_001110792.2(MECP2):c.1316_1318del (p.Asp439del) rs2065906988
NM_001110792.2(MECP2):c.1326C>T (p.Pro442=) rs1603307482
NM_001110792.2(MECP2):c.1327A>G (p.Lys443Glu)
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) rs2065906320
NM_001110792.2(MECP2):c.1328dup (p.Glu444fs) rs2148658967
NM_001110792.2(MECP2):c.1331A>G (p.Glu444Gly)
NM_001110792.2(MECP2):c.1334C>A (p.Pro445Gln)
NM_001110792.2(MECP2):c.1341G>A (p.Lys447=) rs2148658929
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) rs61753972
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys) rs1569548273
NM_001110792.2(MECP2):c.1350C>G (p.Pro450=)
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser) rs61753973
NM_001110792.2(MECP2):c.1352_1353del (p.Ala451fs) rs1557135091
NM_001110792.2(MECP2):c.1357G>A (p.Ala453Thr)
NM_001110792.2(MECP2):c.1361C>A (p.Thr454Asn)
NM_001110792.2(MECP2):c.1362C>G (p.Thr454=) rs61751363
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1]) rs267608404
NM_001110792.2(MECP2):c.1363GCC[1] (p.Ala456del)
NM_001110792.2(MECP2):c.1367C>T (p.Ala456Val)
NM_001110792.2(MECP2):c.136G>T (p.Asp46Tyr)
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) rs61754428
NM_001110792.2(MECP2):c.1371G>C (p.Thr457=) rs3027927
NM_001110792.2(MECP2):c.1377A>C (p.Ala459=)
NM_001110792.2(MECP2):c.1383G>C (p.Lys461Asn)
NM_001110792.2(MECP2):c.1384T>C (p.Tyr462His) rs2065903736
NM_001110792.2(MECP2):c.1384dup (p.Tyr462fs) rs1557135004
NM_001110792.2(MECP2):c.1386C>G (p.Tyr462Ter) rs1557134999
NM_001110792.2(MECP2):c.1392C>A (p.His464Gln)
NM_001110792.2(MECP2):c.1393C>A (p.Arg465=) rs61753979
NM_001110792.2(MECP2):c.139A>G (p.Lys47Glu)
NM_001110792.2(MECP2):c.1401G>A (p.Glu467=)
NM_001110792.2(MECP2):c.1403G>A (p.Gly468Glu)
NM_001110792.2(MECP2):c.1403G>C (p.Gly468Ala)
NM_001110792.2(MECP2):c.140_144del (p.Lys47fs) rs2148667088
NM_001110792.2(MECP2):c.1412A>C (p.Lys471Thr)
NM_001110792.2(MECP2):c.1414G>C (p.Asp472His)
NM_001110792.2(MECP2):c.1414G>T (p.Asp472Tyr) rs782747061
NM_001110792.2(MECP2):c.1419T>C (p.Ile473=) rs2065902668
NM_001110792.2(MECP2):c.1427C>G (p.Ser476Cys)
NM_001110792.2(MECP2):c.1427C>T (p.Ser476Phe) rs2065902468
NM_001110792.2(MECP2):c.1439G>C (p.Arg480Thr) rs2065902151
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) rs2065902096
NM_001110792.2(MECP2):c.1442C>T (p.Pro481Leu)
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) rs267608426
NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp) rs2148658484
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp) rs75498268
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=) rs1557134910
NM_001110792.2(MECP2):c.1459G>C (p.Val487Leu)
NM_001110792.2(MECP2):c.1463A>G (p.Asp488Gly)
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr) rs267608328
NM_001110792.2(MECP2):c.1467C>T (p.Ser489=)
NM_001110792.2(MECP2):c.1468C>A (p.Arg490=) rs1214690328
NM_001110792.2(MECP2):c.1475C>T (p.Pro492Leu)
NM_001110792.2(MECP2):c.1479G>A (p.Val493=)
NM_001110792.2(MECP2):c.1485G>A (p.Glu495=)
NM_001110792.2(MECP2):c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (p.Val497fs)
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) rs267608640
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser) rs267608399
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp) rs267608642
NM_001110792.2(MECP2):c.152A>G (p.Lys51Arg)
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs) rs267608428
NM_001110792.2(MECP2):c.177G>A (p.Gln59=)
NM_001110792.2(MECP2):c.189C>G (p.His63Gln) rs267608432
NM_001110792.2(MECP2):c.191A>G (p.His64Arg) rs61754433
NM_001110792.2(MECP2):c.192C>G (p.His64Gln) rs781819534
NM_001110792.2(MECP2):c.205G>A (p.Ala69Thr)
NM_001110792.2(MECP2):c.20_27dup (p.Ser10fs)
NM_001110792.2(MECP2):c.214G>A (p.Gly72Ser)
NM_001110792.2(MECP2):c.215G>A (p.Gly72Asp) rs2148666907
NM_001110792.2(MECP2):c.225_226del (p.Glu75fs) rs61754436
NM_001110792.2(MECP2):c.230C>A (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.231A>G (p.Ser77=)
NM_001110792.2(MECP2):c.231del (p.Glu78fs) rs2148666876
NM_001110792.2(MECP2):c.237del (p.Ser80fs) rs61754438
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro) rs1557137884
NM_001110792.2(MECP2):c.245C>G (p.Ser82Cys) rs2065987230
NM_001110792.2(MECP2):c.248C>A (p.Ala83Asp) rs1557137874
NM_001110792.2(MECP2):c.248C>G (p.Ala83Gly) rs1557137874
NM_001110792.2(MECP2):c.255T>C (p.Ala85=)
NM_001110792.2(MECP2):c.264A>G (p.Glu88=)
NM_001110792.2(MECP2):c.267T>C (p.Ala89=)
NM_001110792.2(MECP2):c.26C>G (p.Pro9Arg)
NM_001110792.2(MECP2):c.273C>G (p.Ala91=)
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe)
NM_001110792.2(MECP2):c.280A>T (p.Lys94Ter) rs1603310794
NM_001110792.2(MECP2):c.282A>G (p.Lys94=) rs2148666701
NM_001110792.2(MECP2):c.283C>T (p.Gln95Ter) rs2148666695
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp) rs1557137821
NM_001110792.2(MECP2):c.294C>T (p.Ser98=)
NM_001110792.2(MECP2):c.29G>C (p.Ser10Thr) rs2148770895
NM_001110792.2(MECP2):c.304G>C (p.Asp102His)
NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln) rs782177397
NM_001110792.2(MECP2):c.308G>C (p.Arg103Pro)
NM_001110792.2(MECP2):c.311G>A (p.Gly104Glu) rs2148666605
NM_001110792.2(MECP2):c.313C>T (p.Pro105Ser) rs61754447
NM_001110792.2(MECP2):c.331A>C (p.Thr111Pro) rs2065984609
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) rs1603310755
NM_001110792.2(MECP2):c.336G>A (p.Leu112=)
NM_001110792.2(MECP2):c.336G>T (p.Leu112=)
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del) rs587783744
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.343G>A (p.Gly115Ser) rs2065984147
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) rs61754455
NM_001110792.2(MECP2):c.351A>G (p.Thr117=)
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.356A>G (p.Lys119Arg) rs2148666479
NM_001110792.2(MECP2):c.358C>T (p.Leu120Phe) rs1557137721
NM_001110792.2(MECP2):c.368G>C (p.Arg123Thr)
NM_001110792.2(MECP2):c.369G>A (p.Arg123=)
NM_001110792.2(MECP2):c.372A>G (p.Lys124=) rs2065982926
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.37G>C (p.Gly13Arg)
NM_001110792.2(MECP2):c.380G>A (p.Arg127His)
NM_001110792.2(MECP2):c.396T>C (p.Tyr132=)
NM_001110792.2(MECP2):c.406T>G (p.Leu136Val) rs2148666355
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.413+12C>T
NM_001110792.2(MECP2):c.413+13A>C rs2148666303
NM_001110792.2(MECP2):c.413+15C>G
NM_001110792.2(MECP2):c.413+17C>T
NM_001110792.2(MECP2):c.413+20A>G
NM_001110792.2(MECP2):c.413+5G>A rs2148666320
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.413A>G (p.Asn138Ser) rs786205037
NM_001110792.2(MECP2):c.414-10G>A rs1557137196
NM_001110792.2(MECP2):c.414-10G>T rs1557137196
NM_001110792.2(MECP2):c.414-11T>A
NM_001110792.2(MECP2):c.414-14G>A rs267608467
NM_001110792.2(MECP2):c.414-16C>T
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.414-18_414-15del rs782156136
NM_001110792.2(MECP2):c.414-18_414-17insA
NM_001110792.2(MECP2):c.414-20C>T
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.414-3_419del rs267608466
NM_001110792.2(MECP2):c.414-4A>G
NM_001110792.2(MECP2):c.414-4del rs1557137191
NM_001110792.2(MECP2):c.414-5C>G
NM_001110792.2(MECP2):c.414-5C>T
NM_001110792.2(MECP2):c.414-6C>A rs782482746
NM_001110792.2(MECP2):c.414-7C>G
NM_001110792.2(MECP2):c.414-7C>T
NM_001110792.2(MECP2):c.414-8C>A
NM_001110792.2(MECP2):c.414-8C>T
NM_001110792.2(MECP2):c.414-9T>C
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) rs267608387
NM_001110792.2(MECP2):c.418C>A (p.Gln140Lys) rs267608469
NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) rs267608469
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) rs1557150846
NM_001110792.2(MECP2):c.420G>A (p.Gln140=) rs2148664374
NM_001110792.2(MECP2):c.424A>G (p.Lys142Glu)
NM_001110792.2(MECP2):c.427G>C (p.Ala143Pro)
NM_001110792.2(MECP2):c.429C>A (p.Ala143=)
NM_001110792.2(MECP2):c.429C>T (p.Ala143=)
NM_001110792.2(MECP2):c.42A>C (p.Gly14=)
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.434G>A (p.Arg145His) rs61748389
NM_001110792.2(MECP2):c.435C>G (p.Arg145=)
NM_001110792.2(MECP2):c.435C>T (p.Arg145=) rs782178841
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.438T>C (p.Ser146=)
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.43G>A (p.Gly15Arg) rs2148770843
NM_001110792.2(MECP2):c.441A>C (p.Lys147Asn)
NM_001110792.2(MECP2):c.445G>C (p.Glu149Gln)
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup) rs1064795312
NM_001110792.2(MECP2):c.44_57del (p.Gly15fs)
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) rs61748395
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.459C>T (p.Tyr153=) rs61748396
NM_001110792.2(MECP2):c.45A>C (p.Gly15=) rs1369488698
NM_001110792.2(MECP2):c.463G>A (p.Glu155Lys) rs1233476760
NM_001110792.2(MECP2):c.464A>G (p.Glu155Gly)
NM_001110792.2(MECP2):c.465A>G (p.Glu155=) rs2065960775
NM_001110792.2(MECP2):c.47_49dup (p.Gly16dup) rs1569549906
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.480A>G (p.Thr160=) rs2148664166
NM_001110792.2(MECP2):c.483C>A (p.Ser161=) rs782231195
NM_001110792.2(MECP2):c.483C>T (p.Ser161=)
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.490C>A (p.Pro164Thr)
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.491_1199delinsTGCGT (p.Pro164fs)
NM_001110792.2(MECP2):c.49GAG[2] (p.Glu19del)
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.506T>G (p.Phe169Cys)
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) rs61748411
NM_001110792.2(MECP2):c.509C>A (p.Thr170Lys) rs28934906
NM_001110792.2(MECP2):c.509C>G (p.Thr170Arg)
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.510G>T (p.Thr170=)
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) rs61748417
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs) rs267608488
NM_001110792.2(MECP2):c.525G>A (p.Gly175=)
NM_001110792.2(MECP2):c.525G>C (p.Gly175=)
NM_001110792.2(MECP2):c.529C>T (p.Pro177Ser) rs2148663974
NM_001110792.2(MECP2):c.531C>A (p.Pro177=)
NM_001110792.2(MECP2):c.531C>G (p.Pro177=) rs376821032
NM_001110792.2(MECP2):c.534C>T (p.Ser178=)
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.536G>C (p.Arg179Pro) rs2148663951
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) rs1603309480
NM_001110792.2(MECP2):c.543G>A (p.Glu181=)
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter) rs61748425
NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr) rs61748426
NM_001110792.2(MECP2):c.550C>G (p.Pro184Ala)
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) rs61748426
NM_001110792.2(MECP2):c.561G>A (p.Lys187=)
NM_001110792.2(MECP2):c.562C>G (p.Pro188Ala)
NM_001110792.2(MECP2):c.562C>T (p.Pro188Ser) rs186663314
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu) rs61749701
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.564C>T (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.567A>G (p.Lys189=)
NM_001110792.2(MECP2):c.56A>G (p.Glu19Gly) rs1557150848
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala) rs1362774583
NM_001110792.2(MECP2):c.573_574insT (p.Lys192Ter) rs2148663769
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser)
NM_001110792.2(MECP2):c.589G>T (p.Gly197Cys)
NM_001110792.2(MECP2):c.591C>A (p.Gly197=)
NM_001110792.2(MECP2):c.600G>A (p.Arg200=) rs2148663671
NM_001110792.2(MECP2):c.606C>T (p.Arg202=) rs782556129
NM_001110792.2(MECP2):c.609C>T (p.Pro203=) rs61749710
NM_001110792.2(MECP2):c.615G>A (p.Gly205=)
NM_001110792.2(MECP2):c.616_670del (p.Gly207fs)
NM_001110792.2(MECP2):c.619G>A (p.Gly207Ser) rs782806083
NM_001110792.2(MECP2):c.62+10A>T rs1557150839
NM_001110792.2(MECP2):c.62+11C>T rs1557150838
NM_001110792.2(MECP2):c.62+15C>T rs782109379
NM_001110792.2(MECP2):c.62+16G>A
NM_001110792.2(MECP2):c.62+18G>A
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.62+3G>C rs2148770726
NM_001110792.2(MECP2):c.62+5429C>G
NM_001110792.2(MECP2):c.62+5429C>T rs1557149879
NM_001110792.2(MECP2):c.62+5430C>G
NM_001110792.2(MECP2):c.62+5434dup
NM_001110792.2(MECP2):c.62+5435_62+5436insA
NM_001110792.2(MECP2):c.62+5440T>G
NM_001110792.2(MECP2):c.62+8G>A
NM_001110792.2(MECP2):c.621C>A (p.Gly207=)
NM_001110792.2(MECP2):c.626C>G (p.Thr209Arg)
NM_001110792.2(MECP2):c.627G>C (p.Thr209=) rs61749716
NM_001110792.2(MECP2):c.628_645dup (p.Arg210_Thr215dup) rs782003860
NM_001110792.2(MECP2):c.63-14G>A
NM_001110792.2(MECP2):c.63-16T>C
NM_001110792.2(MECP2):c.63-17C>A
NM_001110792.2(MECP2):c.63-17C>G
NM_001110792.2(MECP2):c.63-17C>T
NM_001110792.2(MECP2):c.63-1928_1277del
NM_001110792.2(MECP2):c.63-20A>G
NM_001110792.2(MECP2):c.63-20A>T
NM_001110792.2(MECP2):c.63-2A>G rs267608412
NM_001110792.2(MECP2):c.63-3C>A
NM_001110792.2(MECP2):c.63-4487_1204del
NM_001110792.2(MECP2):c.63-5778_1174del
NM_001110792.2(MECP2):c.63-5800_1271del
NM_001110792.2(MECP2):c.63-7080_1196del
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr)
NM_001110792.2(MECP2):c.632C>A (p.Pro211His) rs267608502
NM_001110792.2(MECP2):c.632C>T (p.Pro211Leu) rs267608502
NM_001110792.2(MECP2):c.633C>T (p.Pro211=)
NM_001110792.2(MECP2):c.634A>G (p.Lys212Glu)
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val) rs587783138
NM_001110792.2(MECP2):c.642C>A (p.Ala214=)
NM_001110792.2(MECP2):c.648A>C (p.Ser216=)
NM_001110792.2(MECP2):c.648A>G (p.Ser216=)
NM_001110792.2(MECP2):c.654T>C (p.Gly218=)
NM_001110792.2(MECP2):c.659A>C (p.Gln220Pro)
NM_001110792.2(MECP2):c.659A>G (p.Gln220Arg) rs1603309169
NM_001110792.2(MECP2):c.669G>A (p.Arg223=)
NM_001110792.2(MECP2):c.669G>T (p.Arg223Ser) rs61749731
NM_001110792.2(MECP2):c.670G>T (p.Val224Phe) rs1569548445
NM_001110792.2(MECP2):c.670del (p.Val224fs) rs2065950974
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp) rs2065950854
NM_001110792.2(MECP2):c.672C>T (p.Val224=) rs1557136728
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val) rs782473355
NM_001110792.2(MECP2):c.673C>T (p.Leu225=)
NM_001110792.2(MECP2):c.674dup (p.Glu226fs) rs2148663296
NM_001110792.2(MECP2):c.675G>C (p.Leu225=)
NM_001110792.2(MECP2):c.677_689del (p.Glu226fs) rs267608386
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) rs878853312
NM_001110792.2(MECP2):c.696C>G (p.Leu232=)
NM_001110792.2(MECP2):c.697C>G (p.Leu233Val) rs782357529
NM_001110792.2(MECP2):c.707T>A (p.Met236Lys)
NM_001110792.2(MECP2):c.708G>A (p.Met236Ile)
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu) rs61749737
NM_001110792.2(MECP2):c.717A>C (p.Gln239His)
NM_001110792.2(MECP2):c.717A>G (p.Gln239=)
NM_001110792.2(MECP2):c.720T>A (p.Thr240=)
NM_001110792.2(MECP2):c.723G>A (p.Ser241=) rs782461567
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) rs1209806388
NM_001110792.2(MECP2):c.726del (p.Gly244fs) rs1064793576
NM_001110792.2(MECP2):c.727G>C (p.Gly243Arg)
NM_001110792.2(MECP2):c.727G>T (p.Gly243Trp) rs587783139
NM_001110792.2(MECP2):c.729G>A (p.Gly243=)
NM_001110792.2(MECP2):c.731del (p.Gly244fs) rs63260260
NM_001110792.2(MECP2):c.731dup (p.Lys245fs) rs63260260
NM_001110792.2(MECP2):c.732del (p.Lys245fs) rs61749741
NM_001110792.2(MECP2):c.737C>T (p.Ala246Val) rs138211345
NM_001110792.2(MECP2):c.73T>G (p.Ser25Ala) rs2065992065
NM_001110792.2(MECP2):c.741G>A (p.Glu247=) rs2148663015
NM_001110792.2(MECP2):c.744G>A (p.Gly248=)
NM_001110792.2(MECP2):c.744G>C (p.Gly248=)
NM_001110792.2(MECP2):c.744_751del (p.Gly249fs) rs2065947222
NM_001110792.2(MECP2):c.745_746del (p.Gly249fs)
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val) rs62846063
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) rs61749743
NM_001110792.2(MECP2):c.748G>T (p.Gly250Trp)
NM_001110792.2(MECP2):c.74C>G (p.Ser25Ter) rs2148667313
NM_001110792.2(MECP2):c.753C>A (p.Ala251=) rs1057520963
NM_001110792.2(MECP2):c.759A>C (p.Thr253=)
NM_001110792.2(MECP2):c.75A>T (p.Ser25=)
NM_001110792.2(MECP2):c.762del (p.Thr255fs)
NM_001110792.2(MECP2):c.765C>A (p.Thr255=) rs1557136570
NM_001110792.2(MECP2):c.765C>G (p.Thr255=)
NM_001110792.2(MECP2):c.765C>T (p.Thr255=)
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) rs61749747
NM_001110792.2(MECP2):c.777G>C (p.Val259=)
NM_001110792.2(MECP2):c.782A>G (p.Lys261Arg)
NM_001110792.2(MECP2):c.783A>G (p.Lys261=)
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_001110792.2(MECP2):c.785_786insT (p.Gly264fs) rs1603308957
NM_001110792.2(MECP2):c.785_788dup (p.Gly264fs)
NM_001110792.2(MECP2):c.786C>A (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.786C>G (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.789C>A (p.Pro263=)
NM_001110792.2(MECP2):c.789del (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.795G>A (p.Arg265=)
NM_001110792.2(MECP2):c.798_837del (p.Lys266fs) rs2148662532
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.800G>C (p.Arg267Pro)
NM_001110792.2(MECP2):c.801A>C (p.Arg267=)
NM_001110792.2(MECP2):c.806C>G (p.Ala269Gly) rs2148662683
NM_001110792.2(MECP2):c.806C>T (p.Ala269Val)
NM_001110792.2(MECP2):c.809A>G (p.Glu270Gly)
NM_001110792.2(MECP2):c.812C>G (p.Ala271Gly)
NM_001110792.2(MECP2):c.813C>A (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.814G>A (p.Asp272Asn)
NM_001110792.2(MECP2):c.817C>A (p.Pro273Thr)
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.822G>C (p.Gln274His)
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly) rs782576004
NM_001110792.2(MECP2):c.831C>T (p.Pro277=)
NM_001110792.2(MECP2):c.837A>G (p.Lys279=)
NM_001110792.2(MECP2):c.838C>A (p.Arg280=)
NM_001110792.2(MECP2):c.839G>A (p.Arg280Gln)
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.842dup (p.Arg282fs)
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.849G>A (p.Lys283=)
NM_001110792.2(MECP2):c.851C>G (p.Pro284Arg) rs61750243
NM_001110792.2(MECP2):c.852G>C (p.Pro284=) rs587783746
NM_001110792.2(MECP2):c.852G>T (p.Pro284=)
NM_001110792.2(MECP2):c.855G>C (p.Gly285=) rs61750245
NM_001110792.2(MECP2):c.856A>G (p.Ser286Gly)
NM_001110792.2(MECP2):c.858T>C (p.Ser286=)
NM_001110792.2(MECP2):c.869C>T (p.Ala290Val) rs781971438
NM_001110792.2(MECP2):c.86_94del (p.Asp29_Gln31del)
NM_001110792.2(MECP2):c.871G>A (p.Ala291Thr)
NM_001110792.2(MECP2):c.871G>T (p.Ala291Ser)
NM_001110792.2(MECP2):c.872C>G (p.Ala291Gly) rs61750249
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.873T>C (p.Ala291=) rs1603308618
NM_001110792.2(MECP2):c.875CCG[1] (p.Ala293del) rs1569548405
NM_001110792.2(MECP2):c.876del (p.Ala293fs) rs1557136332
NM_001110792.2(MECP2):c.878C>G (p.Ala293Gly) rs2148662326
NM_001110792.2(MECP2):c.879C>G (p.Ala293=)
NM_001110792.2(MECP2):c.87C>T (p.Asp29=) rs1557138037
NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe) rs2065991510
NM_001110792.2(MECP2):c.890A>C (p.Lys297Thr)
NM_001110792.2(MECP2):c.891G>C (p.Lys297Asn)
NM_001110792.2(MECP2):c.892A>C (p.Lys298Gln)
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs) rs61750256
NM_001110792.2(MECP2):c.896C>A (p.Ala299Asp)
NM_001110792.2(MECP2):c.896C>T (p.Ala299Val)
NM_001110792.2(MECP2):c.897C>G (p.Ala299=)
NM_001110792.2(MECP2):c.898_1014del (p.Val300_Ser338del) rs2148661699
NM_001110792.2(MECP2):c.904dup (p.Glu302fs)
NM_001110792.2(MECP2):c.905A>G (p.Glu302Gly) rs2148662194
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) rs1557136013
NM_001110792.2(MECP2):c.907_1268delinsAC (p.Ser303_Ser423delinsThr) rs2065909561
NM_001110792.2(MECP2):c.907_930del (p.Ser303_Glu310del)
NM_001110792.2(MECP2):c.912_916del (p.Arg306fs)
NM_001110792.2(MECP2):c.916C>G (p.Arg306Gly)
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.91C>G (p.Gln31Glu) rs61754425
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys) rs1327387670
NM_001110792.2(MECP2):c.924G>A (p.Val308=) rs1603308444
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) rs61751367
NM_001110792.2(MECP2):c.92A>C (p.Gln31Pro) rs2148667246
NM_001110792.2(MECP2):c.933_968del (p.Leu313_Val324del) rs2065935510
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.934G>C (p.Val312Leu)
NM_001110792.2(MECP2):c.934_935dup (p.Leu313fs)
NM_001110792.2(MECP2):c.934_942del (p.Val312_Pro314del) rs2065937019
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) rs1557136251
NM_001110792.2(MECP2):c.939C>G (p.Leu313=)
NM_001110792.2(MECP2):c.939C>T (p.Leu313=) rs61751372
NM_001110792.2(MECP2):c.93G>C (p.Gln31His) rs2148667234
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) rs61749723
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) rs61749723
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.942C>G (p.Pro314=) rs61751438
NM_001110792.2(MECP2):c.942C>T (p.Pro314=) rs61751438
NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser) rs267608549
NM_001110792.2(MECP2):c.948G>C (p.Lys316Asn) rs1603308358
NM_001110792.2(MECP2):c.949A>T (p.Lys317Ter)
NM_001110792.2(MECP2):c.94G>A (p.Gly32Ser)
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) rs61751441
NM_001110792.2(MECP2):c.951G>T (p.Lys317Asn) rs1057519543
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro) rs61751443
NM_001110792.2(MECP2):c.954_962del (p.Lys319_Arg321del) rs2148661892
NM_001110792.2(MECP2):c.957G>C (p.Lys319Asn)
NM_001110792.2(MECP2):c.960C>T (p.Thr320=)
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.962G>A (p.Arg321Gln) rs2065935636
NM_001110792.2(MECP2):c.969G>C (p.Thr323=)
NM_001110792.2(MECP2):c.96C>A (p.Gly32=) rs1353764286
NM_001110792.2(MECP2):c.970dup (p.Val324fs) rs2148661854
NM_001110792.2(MECP2):c.972C>T (p.Val324=) rs398124188
NM_001110792.2(MECP2):c.982_1248del (p.Val328_Glu416del) rs1603307604
NM_001110792.2(MECP2):c.984C>T (p.Val328=) rs61751447
NM_001110792.2(MECP2):c.984_1023del (p.Lys329fs) rs2148661645
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388
NM_001110792.2(MECP2):c.99C>T (p.Leu33=)
NM_001110792.2(MECP2):c.[1046_1072del;1123AAG[1]1152_1282del]
NM_004992.3(MECP2):c.27-8916_1212del
NM_004992.4(MECP2):c.12G>A (p.Gly4=)
NM_004992.4(MECP2):c.12G>C (p.Gly4=) rs2148763145

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