ClinVar Miner

List of variants in gene MECP2 studied for atypical Rett syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1025
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.413+266T>C rs2075596 0.84600
NM_001110792.2(MECP2):c.*878C>G rs3027924 0.17278
NM_001110792.2(MECP2):c.*1737G>A rs3027922 0.06002
NM_001110792.2(MECP2):c.414-109A>G rs3850326 0.04029
NM_001110792.2(MECP2):c.*4576A>C rs3027920 0.02376
NM_001110792.2(MECP2):c.*7748C>T rs3027917 0.02184
NM_001110792.2(MECP2):c.*7856A>C rs3027915 0.01876
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01726
NM_001110792.2(MECP2):c.414-74C>T rs2071569 0.01484
NM_001110792.2(MECP2):c.413+22C>G rs2075597 0.00778
NM_001110792.2(MECP2):c.*3878G>C rs148230889 0.00683
NM_001110792.2(MECP2):c.*489G>C rs111565519 0.00505
NM_001110792.2(MECP2):c.*328G>A rs62621673 0.00480
NM_001110792.2(MECP2):c.*3477G>A rs56036177 0.00360
NM_001110792.2(MECP2):c.*2956G>A rs267608358 0.00342
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001110792.2(MECP2):c.*2657G>A rs3027921 0.00301
NM_001110792.2(MECP2):c.413+28A>G rs185036026 0.00301
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.413+95G>A rs267608460 0.00223
NM_001110792.2(MECP2):c.*544G>A rs183349022 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001110792.2(MECP2):c.*861T>G rs187614438 0.00196
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.*393G>A rs267608361 0.00111
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_001110792.2(MECP2):c.*554G>A rs267608353 0.00083
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001110792.2(MECP2):c.*9G>A rs144008995 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001110792.2(MECP2):c.*487G>C rs267608325 0.00073
NM_001110792.2(MECP2):c.*93G>A rs267608326 0.00072
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.*371G>C rs187851059 0.00062
NM_001110792.2(MECP2):c.*1237T>C rs267608365 0.00059
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001110792.2(MECP2):c.414-61C>G rs191076920 0.00056
NM_001110792.2(MECP2):c.*1368C>A rs267608355 0.00050
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.*3662A>G rs267608366 0.00038
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
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.*5348T>C rs267608346 0.00025
NM_001110792.2(MECP2):c.*363G>C rs62621675 0.00022
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.*2556T>A rs267608356 0.00020
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.1362C>T (p.Thr454=) rs61751363 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001110792.2(MECP2):c.*359G>C rs62621674 0.00014
NM_001110792.2(MECP2):c.*55C>G rs267608344 0.00014
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00013
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 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.*3658C>T rs267608359 0.00010
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs) rs267608339 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.*806G>A rs267608363 0.00009
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.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.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.*177G>C rs267608345 0.00005
NM_001110792.2(MECP2):c.*8500C>G rs267608391 0.00005
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) rs61752371 0.00005
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu) rs62915962 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.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.*767G>T rs267608354 0.00004
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser) rs201871183 0.00004
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser) rs61752981 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.*92C>T rs62621672 0.00003
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) rs781968415 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.1477G>A (p.Val493Met) rs193922678 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.414-3C>T rs267608465 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.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001110792.2(MECP2):c.*5839C>T rs267608368 0.00002
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) rs61752373 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.1324C>T (p.Pro442Ser) rs267608622 0.00002
NM_001110792.2(MECP2):c.1408C>T (p.Arg470Cys) rs267608628 0.00002
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) rs267608370 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.414-70C>G rs782440655 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.604C>T (p.Arg202Cys) rs587783137 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.895G>C (p.Ala299Pro) rs61750257 0.00002
NM_001110792.2(MECP2):c.*8C>T rs267608330 0.00001
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) rs267608556 0.00001
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=) rs782242577 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.1183C>T (p.Leu395Phe) rs1340029095 0.00001
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) rs61753006 0.00001
NM_001110792.2(MECP2):c.1212G>A (p.Glu404=) rs61753009 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.1275C>T (p.Cys425=) rs61753967 0.00001
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=) rs267608621 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.1472C>T (p.Thr491Met) rs267608635 0.00001
NM_001110792.2(MECP2):c.1474C>T (p.Pro492Ser) rs267608636 0.00001
NM_001110792.2(MECP2):c.1482C>T (p.Thr494=) rs76895094 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 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.333C>G (p.Thr111=) rs61754450 0.00001
NM_001110792.2(MECP2):c.413+24C>A rs267608462 0.00001
NM_001110792.2(MECP2):c.414-42A>G rs786205893 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) rs61748414 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.583G>C (p.Gly195Arg) rs61749706 0.00001
NM_001110792.2(MECP2):c.62+5380C>T rs267608324 0.00001
NM_001110792.2(MECP2):c.633C>G (p.Pro211=) rs782619288 0.00001
NM_001110792.2(MECP2):c.831C>G (p.Pro277=) rs267608527 0.00001
NM_001110792.2(MECP2):c.844C>G (p.Arg282Gly) rs61750240 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.898G>A (p.Val300Met) rs782455664 0.00001
NM_001110792.2(MECP2):c.984C>G (p.Val328=) rs61751447 0.00001
GRCh37/hg19 Xq28(chrX:153295818-153298008)
GRCh37/hg19 Xq28(chrX:153296089-153296700)
NC_000023.10:g.(153296026_153296261)_(153298009_153357641)del
NC_000023.10:g.(?_153287263)_(153296026_153296261)del
NC_000023.10:g.(?_153287263)_(153298009_153357641)del
NC_000023.10:g.(?_153287263)_(153363189_?)del
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NC_000023.10:g.153296106_153296275delins[NC_000008.10:g.50305003_50392184inv;TTACACAG]
NC_000023.11:g.(?_154030366)_(154030492_?)del
NC_000023.11:g.(?_154030366)_(154030659_?)del
NC_000023.11:g.(?_154030366)_(154031450_?)del
NC_000023.11:g.154031853_154031854ins77278664_77280319
NM_001110792.1:c.384_1164del
NM_001110792.2(MECP2):c.*1134G>A rs267608390
NM_001110792.2(MECP2):c.*122del rs267608342
NM_001110792.2(MECP2):c.*156G>T
NM_001110792.2(MECP2):c.*204G>A rs267608352
NM_001110792.2(MECP2):c.*2706G>A rs267608357
NM_001110792.2(MECP2):c.*3638A>G
NM_001110792.2(MECP2):c.*36G>C rs267608347
NM_001110792.2(MECP2):c.*4084GT[1] rs267608367
NM_001110792.2(MECP2):c.*529G>T rs267608362
NM_001110792.2(MECP2):c.*5478AT[6] rs202139104
NM_001110792.2(MECP2):c.*796_*822del rs267608375
NM_001110792.2(MECP2):c.*831G>C rs190920575
NM_001110792.2(MECP2):c.*8503del rs267608360
NM_001110792.2(MECP2):c.*8503dup rs267608360
NM_001110792.2(MECP2):c.*875dup rs267608364
NM_001110792.2(MECP2):c.*92C>G rs62621672
NM_001110792.2(MECP2):c.*98dup rs267608341
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.1001_1006del (p.Pro334_Leu335del) rs61751452
NM_001110792.2(MECP2):c.100A>T (p.Lys34Ter) rs62641234
NM_001110792.2(MECP2):c.1020C>A (p.Leu340=) rs61751442
NM_001110792.2(MECP2):c.1025AGA[1] (p.Lys343del) rs61751456
NM_001110792.2(MECP2):c.1025_1030delinsGCATCTTCTCCTCTTT (p.Glu342fs) rs61751456
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg) rs267608557
NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs) rs267608558
NM_001110792.2(MECP2):c.1030_1382del (p.Ser344fs) rs1557135016
NM_001110792.2(MECP2):c.1035G>T (p.Gly345=) rs61751451
NM_001110792.2(MECP2):c.1040_1073del (p.Gly347fs) rs267608376
NM_001110792.2(MECP2):c.1040_1209delinsCTGTGTAA (p.Gly347_Pro403delinsAlaValTer)
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs) rs1557135418
NM_001110792.2(MECP2):c.1045_1063del (p.Lys349fs) rs267608559
NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs) rs1557135426
NM_001110792.2(MECP2):c.1048_1238del (p.Thr350fs) rs1557135300
NM_001110792.2(MECP2):c.1050C>T (p.Thr350=) rs267608400
NM_001110792.2(MECP2):c.1051T>C (p.Cys351Arg) rs267608560
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu)
NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs) rs1060499620
NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg) rs1569548372
NM_001110792.2(MECP2):c.1064_1194del (p.Gly355fs) rs1557135728
NM_001110792.2(MECP2):c.1065del (p.Arg356fs) rs61751457
NM_001110792.2(MECP2):c.1065dup (p.Arg356fs) rs61751457
NM_001110792.2(MECP2):c.1066C>G (p.Arg356Gly) rs61752361
NM_001110792.2(MECP2):c.1066_1231delinsGT (p.Arg356fs) rs1557135402
NM_001110792.2(MECP2):c.1072A>C (p.Ser358Arg) rs2148661474
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg) rs61752365
NM_001110792.2(MECP2):c.1075_1086del (p.Lys359_Ser362del)
NM_001110792.2(MECP2):c.1075_1231delinsGT (p.Lys359fs) rs1557135400
NM_001110792.2(MECP2):c.1077_*29del (p.Lys359_Ter499delinsXaa) rs1557134784
NM_001110792.2(MECP2):c.1079_1092del (p.Glu360fs) rs267608380
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal) rs1557135603
NM_001110792.2(MECP2):c.1082_1242del (p.Ser361fs) rs1557135268
NM_001110792.2(MECP2):c.1084_1131del (p.Ser362_Glu377del) rs267608562
NM_001110792.2(MECP2):c.1084_1235del (p.Ser362fs) rs1557135350
NM_001110792.2(MECP2):c.1087_1090del (p.Pro363fs) rs267608377
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del) rs267608384
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs) rs1557135338
NM_001110792.2(MECP2):c.1089_*2300del (p.Pro363_Ter499delinsXaa)
NM_001110792.2(MECP2):c.1089_1192del (p.Lys364fs)
NM_001110792.2(MECP2):c.1093_1255del (p.Gly365fs) rs1557135225
NM_001110792.2(MECP2):c.1095_1108del (p.Arg366fs) rs267608378
NM_001110792.2(MECP2):c.1097G>A (p.Arg366His) rs61748387
NM_001110792.2(MECP2):c.1097_1098del (p.Arg366fs) rs2148661347
NM_001110792.2(MECP2):c.1097_1110del (p.Arg366fs) rs267608381
NM_001110792.2(MECP2):c.1097_1192del (p.Arg366_Pro397del) rs1557135746
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del) rs267608564
NM_001110792.2(MECP2):c.1101C>A (p.Ser367Arg) rs267608563
NM_001110792.2(MECP2):c.1101C>T (p.Ser367=) rs267608563
NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs) rs1557135664
NM_001110792.2(MECP2):c.1114_*2524del (p.Ser372fs)
NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter) rs61752372
NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser) rs61752373
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser) rs782171742
NM_001110792.2(MECP2):c.1121_1233del (p.Pro374fs)
NM_001110792.2(MECP2):c.1123A>T (p.Lys375Ter) rs61752375
NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs) rs1557135929
NM_001110792.2(MECP2):c.1124_1151del (p.Lys375fs) rs267608385
NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs) rs1064792898
NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del) rs786205032
NM_001110792.2(MECP2):c.112del (p.Leu38fs) rs61754426
NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del) rs1064792899
NM_001110792.2(MECP2):c.1132_1237del (p.His378fs) rs1557135317
NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa) rs1557134819
NM_001110792.2(MECP2):c.1133_1239del (p.His378fs) rs1557135285
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.1135_1154del (p.His379fs) rs267608567
NM_001110792.2(MECP2):c.1136_1224del (p.His379fs)
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
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.1141_1261del (p.His381fs) rs1557135213
NM_001110792.2(MECP2):c.1141del (p.His381fs) rs267608568
NM_001110792.2(MECP2):c.1143_1234del (p.His382fs)
NM_001110792.2(MECP2):c.1146C>G (p.His382Gln) rs2065927241
NM_001110792.2(MECP2):c.1149_1237del (p.His383fs)
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln) rs2148660984
NM_001110792.2(MECP2):c.1151_1237del (p.His384_Ser413delinsArg) rs1557135313
NM_001110792.2(MECP2):c.1151_1362del (p.His384fs) rs1557135076
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) rs1557135314
NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs) rs1603307865
NM_001110792.2(MECP2):c.1153_1235del (p.Ser385fs) rs2065913795
NM_001110792.2(MECP2):c.1153_1239del (p.Ser385_Ser413del) rs1557135279
NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter) rs267608569
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.1159_1227del (p.Ser387_Glu409del) rs1557135441
NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs) rs1557135299
NM_001110792.2(MECP2):c.1161_1173del (p.Pro388fs) rs267608340
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg) rs61752976
NM_001110792.2(MECP2):c.1163_1173del (p.Pro388fs) rs267608340
NM_001110792.2(MECP2):c.1163_1215del (p.Pro388fs) rs1557135575
NM_001110792.2(MECP2):c.1164_1215del (p.Lys389fs) rs1557135571
NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs) rs1557134378
NM_001110792.2(MECP2):c.1165_1169delinsGAGT (p.Lys389fs) rs267608379
NM_001110792.2(MECP2):c.1165_1229del (p.Lys389fs) rs1557135423
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser) rs587783106
NM_001110792.2(MECP2):c.1168_1169del (p.Ala390fs) rs2065925520
NM_001110792.2(MECP2):c.1168_1195del (p.Ala390fs) rs267608348
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) rs1557135295
NM_001110792.2(MECP2):c.1168_1243del (p.Ala390fs)
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.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1172_1178del (p.Pro391fs) rs267608389
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.1177C>G (p.Pro393Ala) rs61752981
NM_001110792.2(MECP2):c.1178_1263del (p.Pro393fs) rs1557135212
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del) rs587783094
NM_001110792.2(MECP2):c.1181_1230del (p.Leu394fs) rs267608573
NM_001110792.2(MECP2):c.1182_*452del (p.Leu394_Ter499delinsXaa) rs1557134481
NM_001110792.2(MECP2):c.1183_1210del (p.Leu395fs)
NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro) rs1060499622
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del) rs782767712
NM_001110792.2(MECP2):c.1184_1213del (p.Leu395_Glu404del) rs267608350
NM_001110792.2(MECP2):c.1184_1229del (p.Leu395fs)
NM_001110792.2(MECP2):c.1186_1228del (p.Pro396fs) rs63749023
NM_001110792.2(MECP2):c.1187_1219del (p.Pro396_Ser407delinsArg) rs267608575
NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs) rs267608574
NM_001110792.2(MECP2):c.1187_1227del (p.Pro396fs) rs63749024
NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa) rs1557134779
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs) rs267608576
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) rs267608372
NM_001110792.2(MECP2):c.1188_1328del (p.Pro397_Lys443del)
NM_001110792.2(MECP2):c.1189C>T (p.Pro397Ser)
NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del) rs786205033
NM_001110792.2(MECP2):c.1189_1226del (p.Pro397fs) rs267608577
NM_001110792.2(MECP2):c.1190_1221del (p.Pro397fs) rs267608578
NM_001110792.2(MECP2):c.1190_1233del (p.Pro397fs) rs267608579
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del) rs267608392
NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs) rs267608580
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del) rs1557135259
NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs) rs267608584
NM_001110792.2(MECP2):c.1192_1208del (p.Pro397_Leu398insTer) rs267608582
NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del) rs267608579
NM_001110792.2(MECP2):c.1192_1236del (p.Leu398_Thr412del) rs267608581
NM_001110792.2(MECP2):c.1192del (p.Leu398fs)
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)
NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del) rs1569548334
NM_001110792.2(MECP2):c.1193_1220del (p.Leu398fs)
NM_001110792.2(MECP2):c.1193_1222delinsA (p.Leu398fs) rs2065917262
NM_001110792.2(MECP2):c.1193_1223del (p.Leu398fs) rs61754419
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs) rs267608585
NM_001110792.2(MECP2):c.1193_1227del (p.Leu398fs) rs267608586
NM_001110792.2(MECP2):c.1193_1228del (p.Leu398_Asp410delinsHis) rs63749028
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1235del (p.Leu398fs) rs267608587
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1194_*117del (p.Pro399fs) rs1557134720
NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs) rs1557134621
NM_001110792.2(MECP2):c.1194_1203del (p.Pro399fs) rs63583161
NM_001110792.2(MECP2):c.1194_1222del (p.Pro399fs) rs63749029
NM_001110792.2(MECP2):c.1194_1222delinsCCA (p.Pro399fs) rs386134271
NM_001110792.2(MECP2):c.1194_1234del (p.Pro399fs) rs267608588
NM_001110792.2(MECP2):c.1194_1236del (p.Pro399fs) rs63009262
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs) rs267608590
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs) rs267608373
NM_001110792.2(MECP2):c.1195_1231delinsAG (p.Pro399fs)
NM_001110792.2(MECP2):c.1195_1237del (p.Pro399fs) rs63749030
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) rs1557135251
NM_001110792.2(MECP2):c.1195_1309del (p.Pro399fs)
NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del) rs1557134858
NM_001110792.2(MECP2):c.1196_*5215del (p.Pro399_Ter499delinsXaa)
NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs) rs267608332
NM_001110792.2(MECP2):c.1196_1216del (p.Pro399_Glu406delinsGln) rs267608594
NM_001110792.2(MECP2):c.1196_1221del (p.Pro399fs) rs267608591
NM_001110792.2(MECP2):c.1196_1224del (p.Pro399fs) rs267608593
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) rs267608592
NM_001110792.2(MECP2):c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp) rs267608343
NM_001110792.2(MECP2):c.1197C>A (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_1235delinsTGAG (p.Pro400fs)
NM_001110792.2(MECP2):c.1197_1241delinsA (p.Pro400_Pro401insTer) rs267608596
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) rs1557134946
NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr) rs61753000
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_1199del (p.Pro400fs) rs267608339
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1198_1205del (p.Pro400fs)
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_1227del (p.Pro400_Glu409del) rs63749034
NM_001110792.2(MECP2):c.1199_*39del (p.Pro400fs) rs1557134770
NM_001110792.2(MECP2):c.1199_1209del (p.Pro400fs) rs267608334
NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs) rs267608601
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs) rs267608600
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1199_1236del (p.Pro400fs)
NM_001110792.2(MECP2):c.1199_1237del (p.Pro400_Ser413delinsArg) rs267608602
NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del) rs1557135234
NM_001110792.2(MECP2):c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro400_Gly440delinsGlnTer) rs1557135110
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del) rs267608604
NM_001110792.2(MECP2):c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA (p.Pro401_Ser407delinsTer) rs786205019
NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs) rs2148660011
NM_001110792.2(MECP2):c.1200_1230del (p.Pro403fs) rs786205020
NM_001110792.2(MECP2):c.1200_1235delinsT (p.Pro401fs) rs1557135346
NM_001110792.2(MECP2):c.1200_1242del (p.Pro401fs) rs267608603
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del) rs267608605
NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer)
NM_001110792.2(MECP2):c.1200del (p.Pro401fs) rs267608606
NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs) rs267608607
NM_001110792.2(MECP2):c.1203_1212del (p.Pro403fs) rs267608349
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs) rs267608343
NM_001110792.2(MECP2):c.1205C>T (p.Pro402Leu)
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) rs267608609
NM_001110792.2(MECP2):c.1207C>G (p.Pro403Ala) rs781794820
NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs) rs2148658325
NM_001110792.2(MECP2):c.1209_1224del (p.Glu404fs) rs267608369
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer) rs2148659508
NM_001110792.2(MECP2):c.1212_1229del (p.Glu404_Glu409del) rs267608335
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) rs267608402
NM_001110792.2(MECP2):c.1214_1221del (p.Pro405fs) rs267608383
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) rs63094662
NM_001110792.2(MECP2):c.1216_1217insT (p.Glu406fs) rs786205021
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs) rs267608333
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) rs782746707
NM_001110792.2(MECP2):c.1217_1227del (p.Glu406fs) rs267608403
NM_001110792.2(MECP2):c.1221_1227del (p.Ser407fs) rs63749018
NM_001110792.2(MECP2):c.1222_1231del (p.Ser408fs)
NM_001110792.2(MECP2):c.1225G>T (p.Glu409Ter) rs56268439
NM_001110792.2(MECP2):c.1225_1232del (p.Glu409fs) rs267608338
NM_001110792.2(MECP2):c.1225_1267inv (p.Glu409_Ser423delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg)
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs) rs267608610
NM_001110792.2(MECP2):c.1229A>C (p.Asp410Ala)
NM_001110792.2(MECP2):c.1230_1231insT (p.Pro411fs) rs61753011
NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs) rs1557135137
NM_001110792.2(MECP2):c.1233_1273inv (p.Thr412_Cys425delinsAspAlaAlaAlaGlnValLeuGlyLeuArgGlyAlaGlyGly)
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) rs267608612
NM_001110792.2(MECP2):c.1236dup (p.Ser413fs) rs267608613
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs) rs267608614
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1241_1242insT (p.Pro415_Glu416insTer)
NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg) rs587783107
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1246G>A (p.Glu416Lys)
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs) rs267608615
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) rs2065910235
NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs) rs63749038
NM_001110792.2(MECP2):c.1265G>A (p.Ser422Asn) rs267608616
NM_001110792.2(MECP2):c.1267_1355del (p.Ser423fs)
NM_001110792.2(MECP2):c.1268_1272del (p.Ser423fs) rs267608351
NM_001110792.2(MECP2):c.1268_1276del (p.Ser423_Cys425del) rs63749027
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs) rs786205036
NM_001110792.2(MECP2):c.1270_1373del (p.Val424fs) rs1557135039
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs) rs267608617
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg) rs797045692
NM_001110792.2(MECP2):c.1274_1302del (p.Cys425fs) rs267608374
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer) rs61754427
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met) rs61753968
NM_001110792.2(MECP2):c.1291C>G (p.Pro431Ala)
NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG (p.Gly434fs) rs63749064
NM_001110792.2(MECP2):c.1307_1452del (p.Leu436fs) rs1557134923
NM_001110792.2(MECP2):c.131dup (p.Lys45fs)
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) rs2065906320
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) rs61753972
NM_001110792.2(MECP2):c.1344dup (p.Gln449fs)
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys) rs1569548273
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.1351_1359dup (p.Ala451_Ala453dup) rs2065905269
NM_001110792.2(MECP2):c.1356dup (p.Ala453fs) rs267608624
NM_001110792.2(MECP2):c.1360A>G (p.Thr454Ala) rs61753974
NM_001110792.2(MECP2):c.1360_1400del (p.Thr454fs) rs267608625
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1]) rs267608404
NM_001110792.2(MECP2):c.1366_1378del (p.Ala456fs) rs63749065
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) rs61754428
NM_001110792.2(MECP2):c.1374_1379del (p.Ala459_Glu460del) rs786205022
NM_001110792.2(MECP2):c.1374_1390del (p.Ala459fs)
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) rs61753979
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) rs104894864
NM_001110792.2(MECP2):c.1400_1401insC (p.Glu467fs) rs267608627
NM_001110792.2(MECP2):c.1402G>T (p.Gly468Ter)
NM_001110792.2(MECP2):c.1420_1421del (p.Val474fs)
NM_001110792.2(MECP2):c.1429T>C (p.Ser477Pro)
NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del) rs267608632
NM_001110792.2(MECP2):c.143_144del (p.Lys48fs) rs267608425
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs) rs786205023
NM_001110792.2(MECP2):c.1446_1447del (p.Asn482fs) rs786204316
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr) rs1057520310
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) rs267608426
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs) rs267608634
NM_001110792.2(MECP2):c.1453G>C (p.Glu485Gln)
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp) rs75498268
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr) rs267608328
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) rs587777421
NM_001110792.2(MECP2):c.1484_*29del (p.Glu495fs) rs267608393
NM_001110792.2(MECP2):c.1485G>A (p.Glu495=)
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del) rs267608637
NM_001110792.2(MECP2):c.1486_1489del (p.Arg496fs) rs267608638
NM_001110792.2(MECP2):c.1488_1489dup (p.Val497fs) rs267608638
NM_001110792.2(MECP2):c.148_149insGCCAAAG (p.Glu50fs) rs2065989620
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) rs267608640
NM_001110792.2(MECP2):c.1491_1492dup (p.Ser498fs) rs267608641
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg) rs267608337
NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu) rs267608399
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) rs267608642
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp) rs267608642
NM_001110792.2(MECP2):c.153dup (p.Glu52fs) rs267608427
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs) rs267608428
NM_001110792.2(MECP2):c.162dup (p.His55fs) rs61754430
NM_001110792.2(MECP2):c.176dup (p.Pro60fs) rs61754431
NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs) rs2065988707
NM_001110792.2(MECP2):c.182C>A (p.Ser61Ter) rs61754432
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) rs61754432
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.203_204del (p.Pro68fs) rs267608434
NM_001110792.2(MECP2):c.203_221del (p.Pro68fs)
NM_001110792.2(MECP2):c.225_226del (p.Glu75fs) rs61754436
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.230C>T (p.Ser77Leu) rs61754437
NM_001110792.2(MECP2):c.237del (p.Ser80fs) rs61754438
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) rs267608438
NM_001110792.2(MECP2):c.23_27dup (p.Ser10fs) rs786205038
NM_001110792.2(MECP2):c.251_252insT (p.Ala85fs) rs1557137871
NM_001110792.2(MECP2):c.251del (p.Pro84fs) rs61754441
NM_001110792.2(MECP2):c.251dup (p.Ala85fs) rs61754441
NM_001110792.2(MECP2):c.254_260del (p.Ala85fs) rs2148666767
NM_001110792.2(MECP2):c.262del (p.Glu88fs)
NM_001110792.2(MECP2):c.265_274del (p.Ala89fs) rs63749009
NM_001110792.2(MECP2):c.268dup (p.Ser90fs)
NM_001110792.2(MECP2):c.269del (p.Ser90fs) rs267608442
NM_001110792.2(MECP2):c.279dup (p.Lys94fs) rs267608443
NM_001110792.2(MECP2):c.293C>G (p.Ser98Cys) rs61754445
NM_001110792.2(MECP2):c.294_295del (p.Ile99fs) rs267608444
NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln) rs782177397
NM_001110792.2(MECP2):c.308G>C (p.Arg103Pro)
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) rs797045693
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter) rs267608445
NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs) rs267608446
NM_001110792.2(MECP2):c.311del (p.Gly104fs) rs267608446
NM_001110792.2(MECP2):c.311dup (p.Pro105fs) rs267608446
NM_001110792.2(MECP2):c.312_313insG (p.Pro105fs) rs267608405
NM_001110792.2(MECP2):c.313C>T (p.Pro105Ser) rs61754447
NM_001110792.2(MECP2):c.321_322insAAAAAAA (p.Asp108fs)
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) rs61754448
NM_001110792.2(MECP2):c.327C>A (p.Asp109Glu) rs61754449
NM_001110792.2(MECP2):c.331A>C (p.Thr111Pro) rs2065984609
NM_001110792.2(MECP2):c.331_333del (p.Thr111del) rs267608449
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) rs1603310755
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.335T>G (p.Leu112Arg) rs61754451
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)
NM_001110792.2(MECP2):c.338C>A (p.Pro113His) rs61754453
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.338C>T (p.Pro113Leu) rs61754453
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.344G>A (p.Gly115Asp) rs267608450
NM_001110792.2(MECP2):c.346T>C (p.Trp116Arg) rs267608451
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) rs61754455
NM_001110792.2(MECP2):c.347_359del (p.Trp116fs) rs63749010
NM_001110792.2(MECP2):c.351dup (p.Arg118fs) rs61754456
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) rs28934907
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.353G>T (p.Arg118Leu) rs61754457
NM_001110792.2(MECP2):c.354_357dup (p.Leu120fs) rs786205025
NM_001110792.2(MECP2):c.359T>A (p.Leu120His) rs61754458
NM_001110792.2(MECP2):c.359T>C (p.Leu120Pro) rs61754458
NM_001110792.2(MECP2):c.362dup (p.Gln122fs) rs267608452
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly) rs61754459
NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys) rs1057518718
NM_001110792.2(MECP2):c.370A>T (p.Lys124Ter) rs267608398
NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala) rs61755760
NM_001110792.2(MECP2):c.377_385del (p.Gly126_Ser128del) rs1557137675
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.379_1218del840 (p.Arg127_Glu406del)
NM_001110792.2(MECP2):c.380G>A (p.Arg127His)
NM_001110792.2(MECP2):c.381del (p.Ser128fs) rs61755761
NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly)
NM_001110792.2(MECP2):c.389G>A (p.Gly130Glu)
NM_001110792.2(MECP2):c.394T>G (p.Tyr132Asp) rs267608454
NM_001110792.2(MECP2):c.396T>G (p.Tyr132Ter)
NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly) rs61755762
NM_001110792.2(MECP2):c.398A>T (p.Asp133Val) rs61755762
NM_001110792.2(MECP2):c.400G>A (p.Val134Met) rs267608455
NM_001110792.2(MECP2):c.401T>C (p.Val134Ala) rs267608456
NM_001110792.2(MECP2):c.402_406dup (p.Leu136fs)
NM_001110792.2(MECP2):c.407T>G (p.Leu136Trp)
NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.411del (p.Asn138fs) rs267608457
NM_001110792.2(MECP2):c.413+11G>C
NM_001110792.2(MECP2):c.413+1G>A rs267608463
NM_001110792.2(MECP2):c.413+1G>T rs267608463
NM_001110792.2(MECP2):c.413+266T>G
NM_001110792.2(MECP2):c.413+2T>G rs267608458
NM_001110792.2(MECP2):c.413+30G>A rs786205014
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.413A>T (p.Asn138Ile)
NM_001110792.2(MECP2):c.414-14G>A rs267608467
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.414-241C>T rs3027931
NM_001110792.2(MECP2):c.414-2A>C rs267608464
NM_001110792.2(MECP2):c.414-2A>G rs267608464
NM_001110792.2(MECP2):c.414-2A>T rs267608464
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.414-65C>G
NM_001110792.2(MECP2):c.414-74C>G rs2071569
NM_001110792.2(MECP2):c.414_1497del (p.Pro139fs)
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) rs267608387
NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) rs267608469
NM_001110792.2(MECP2):c.418_1225del (p.Gln140fs)
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.422G>T (p.Gly141Val) rs61748384
NM_001110792.2(MECP2):c.426del (p.Ala143fs) rs786205895
NM_001110792.2(MECP2):c.426dup (p.Ala143fs)
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) rs267608470
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) rs28934904
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.434G>C (p.Arg145Pro) rs61748389
NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu) rs61748389
NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro) rs267608471
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe) rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.445_1194del (p.Glu149_Leu398del)
NM_001110792.2(MECP2):c.447del (p.Glu149fs) rs61748393
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter) rs267608475
NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser) rs267608475
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs) rs1603341328
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.456del (p.Tyr153fs) rs267608476
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) rs61748395
NM_001110792.2(MECP2):c.458dup (p.Tyr153Ter) rs61748394
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.463G>A (p.Glu155Lys) rs1233476760
NM_001110792.2(MECP2):c.464_465insT (p.Glu155fs) rs61748398
NM_001110792.2(MECP2):c.465A>G (p.Glu155=) rs2065960775
NM_001110792.2(MECP2):c.466A>T (p.Lys156Ter) rs61748399
NM_001110792.2(MECP2):c.467A>G (p.Lys156Arg) rs786205016
NM_001110792.2(MECP2):c.467del (p.Lys156fs) rs61748400
NM_001110792.2(MECP2):c.475G>A (p.Asp159Asn) rs61748401
NM_001110792.2(MECP2):c.475del (p.Asp159fs) rs62952161
NM_001110792.2(MECP2):c.478_1190del (p.Thr160fs)
NM_001110792.2(MECP2):c.478_1191del (p.Thr160_Pro397del)
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs) rs786205042
NM_001110792.2(MECP2):c.482C>A (p.Ser161Tyr)
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.487del (p.Asp163fs) rs61748402
NM_001110792.2(MECP2):c.488A>C (p.Asp163Ala)
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.48C>T (p.Gly16=) rs786205045
NM_001110792.2(MECP2):c.48_55del (p.Glu18fs) rs786205043
NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs) rs786205043
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.491C>T (p.Pro164Leu)
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile) rs61748406
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) rs28934905
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) rs28934905
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) rs1603309620
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala) rs61748407
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.504C>T (p.Asp168=) rs61748408
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.506_507del (p.Phe169fs) rs267608483
NM_001110792.2(MECP2):c.506dup (p.Thr170fs) rs267608482
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>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer) rs267608485
NM_001110792.2(MECP2):c.514dup (p.Thr172fs)
NM_001110792.2(MECP2):c.516_517del (p.Gly173fs) rs267608486
NM_001110792.2(MECP2):c.516del (p.Arg174fs) rs61748415
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp) rs61748416
NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu) rs61748417
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) rs61748417
NM_001110792.2(MECP2):c.519del (p.Arg174fs) rs61748418
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly) rs727505391
NM_001110792.2(MECP2):c.520dup (p.Arg174fs) rs267608487
NM_001110792.2(MECP2):c.524_1225del (p.Gly175_Ser408del) rs1557135461
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs) rs267608488
NM_001110792.2(MECP2):c.531del (p.Ser178fs) rs267608489
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>A (p.Arg180=) rs61748421
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.542_543dup (p.Gln182fs)
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter) rs61748425
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) rs61748426
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001110792.2(MECP2):c.559A>T (p.Lys187Ter) rs61748428
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>A (p.Pro188=)
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.565A>T (p.Lys189Ter) rs61749702
NM_001110792.2(MECP2):c.567del (p.Lys189fs) rs61749703
NM_001110792.2(MECP2):c.571C>T (p.Pro191Ser)
NM_001110792.2(MECP2):c.574A>T (p.Lys192Ter) rs267608495
NM_001110792.2(MECP2):c.578C>T (p.Ala193Val) rs61749705
NM_001110792.2(MECP2):c.579_580del (p.Pro194fs) rs267608496
NM_001110792.2(MECP2):c.590del (p.Gly197fs) rs61749707
NM_001110792.2(MECP2):c.59_60del (p.Arg20fs) rs786205047
NM_001110792.2(MECP2):c.59_60dup (p.Leu21fs)
NM_001110792.2(MECP2):c.602del (p.Gly201fs) rs61749708
NM_001110792.2(MECP2):c.602dup (p.Arg202fs) rs61749708
NM_001110792.2(MECP2):c.603dup (p.Arg202fs) rs61749709
NM_001110792.2(MECP2):c.605G>A (p.Arg202His) rs1557136818
NM_001110792.2(MECP2):c.609C>T (p.Pro203=) rs61749710
NM_001110792.2(MECP2):c.609del (p.Ser206fs) rs786204307
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) rs193922679
NM_001110792.2(MECP2):c.62+14626C>T
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.62+21995G>T
NM_001110792.2(MECP2):c.62+2T>G rs1557150841
NM_001110792.2(MECP2):c.62+2_62+3del rs786205049
NM_001110792.2(MECP2):c.62+32135T>G
NM_001110792.2(MECP2):c.62+5469A>T rs1557149865
NM_001110792.2(MECP2):c.62+5503del rs372915987
NM_001110792.2(MECP2):c.628A>T (p.Arg210Ter) rs61749717
NM_001110792.2(MECP2):c.63-13972A>T
NM_001110792.2(MECP2):c.63-27438T>G
NM_001110792.2(MECP2):c.63-2A>G rs267608412
NM_001110792.2(MECP2):c.63-3928_1220del
NM_001110792.2(MECP2):c.63-55G>A rs267608414
NM_001110792.2(MECP2):c.63-6214_1227del
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.63-73_1087del
NM_001110792.2(MECP2):c.63-866C>T
NM_001110792.2(MECP2):c.63-8C>G rs267608410
NM_001110792.2(MECP2):c.63-94_1243del
NM_001110792.2(MECP2):c.63-9A>G rs267608413
NM_001110792.2(MECP2):c.632C>A (p.Pro211His) rs267608502
NM_001110792.2(MECP2):c.634A>T (p.Lys212Ter) rs61749718
NM_001110792.2(MECP2):c.637dup (p.Ala213fs) rs267608503
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val) rs587783138
NM_001110792.2(MECP2):c.644_645insA (p.Ser216fs) rs267608506
NM_001110792.2(MECP2):c.647C>A (p.Ser216Ter)
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) rs61749724
NM_001110792.2(MECP2):c.647_648delinsAG (p.Ser216Ter) rs267608507
NM_001110792.2(MECP2):c.649G>T (p.Glu217Ter) rs61749726
NM_001110792.2(MECP2):c.64G>C (p.Glu22Gln) rs61754421
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter) rs61754421
NM_001110792.2(MECP2):c.650_651del (p.Glu217fs) rs1603309190
NM_001110792.2(MECP2):c.652_1158del (p.Gly218_Glu386del) rs1557135847
NM_001110792.2(MECP2):c.653G>A (p.Gly218Asp) rs63485860
NM_001110792.2(MECP2):c.653del (p.Gly218fs) rs61749727
NM_001110792.2(MECP2):c.656dup (p.Gln220fs) rs61749728
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter) rs61749729
NM_001110792.2(MECP2):c.663G>A (p.Val221=) rs786205017
NM_001110792.2(MECP2):c.665A>T (p.Lys222Ile) rs61749730
NM_001110792.2(MECP2):c.671_691del (p.Val224_Lys231delinsGlu) rs267608509
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val) rs782473355
NM_001110792.2(MECP2):c.677_689del (p.Glu226fs) rs267608386
NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser) rs786205894
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) rs878853312
NM_001110792.2(MECP2):c.687_688del (p.Gly230fs) rs267608510
NM_001110792.2(MECP2):c.690_693del (p.Lys231fs) rs61749734
NM_001110792.2(MECP2):c.701_707dup (p.Met236fs) rs797045695
NM_001110792.2(MECP2):c.703A>T (p.Lys235Ter)
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) rs267608513
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.712_713insA (p.Phe238fs) rs267608514
NM_001110792.2(MECP2):c.713_714insA (p.Phe238fs) rs61749736
NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) rs878853313
NM_001110792.2(MECP2):c.714del (p.Gln239fs) rs1060499621
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu) rs61749737
NM_001110792.2(MECP2):c.715C>T (p.Gln239Ter)
NM_001110792.2(MECP2):c.717A>C (p.Gln239His)
NM_001110792.2(MECP2):c.71_78dup (p.Asp27fs) rs63749008
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) rs61749739
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) rs1557136493
NM_001110792.2(MECP2):c.726del (p.Gly244fs) rs1064793576
NM_001110792.2(MECP2):c.72G>C (p.Lys24Asn) rs61754422
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.737_1311del (p.Ala246fs) rs1569548274
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.747_1305del (p.Gly250fs) rs1557135125
NM_001110792.2(MECP2):c.74C>G (p.Ser25Ter) rs2148667313
NM_001110792.2(MECP2):c.751del (p.Ala251fs) rs61749744
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp) rs1557136591
NM_001110792.2(MECP2):c.753del (p.Thr252fs)
NM_001110792.2(MECP2):c.756C>G (p.Thr252=) rs61749746
NM_001110792.2(MECP2):c.756dup (p.Thr253fs) rs267608518
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs) rs1569548428
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) rs61749747
NM_001110792.2(MECP2):c.766del (p.Gln256fs)
NM_001110792.2(MECP2):c.767_1202del (p.Gln256fs) rs1557135670
NM_001110792.2(MECP2):c.770_795del (p.Val257fs) rs267608519
NM_001110792.2(MECP2):c.772_773insAT (p.Met258fs) rs61749749
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.775del (p.Met258_Val259insTer) rs61749750
NM_001110792.2(MECP2):c.783_787dup (p.Pro263fs) rs1557136523
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs) rs1557136549
NM_001110792.2(MECP2):c.784_789delinsGGCCG (p.Arg262fs) rs61750225
NM_001110792.2(MECP2):c.784dup (p.Arg262fs) rs61749752
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_001110792.2(MECP2):c.785_788dup (p.Gly264fs)
NM_001110792.2(MECP2):c.785dup (p.Gly264fs) rs1603308963
NM_001110792.2(MECP2):c.786C>A (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer) rs1064797104
NM_001110792.2(MECP2):c.786delinsTCAGGAAGCTT (p.Pro263fs) rs267608521
NM_001110792.2(MECP2):c.788C>G (p.Pro263Arg)
NM_001110792.2(MECP2):c.788C>T (p.Pro263Leu) rs61750229
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789_790dup (p.Gly264fs)
NM_001110792.2(MECP2):c.789del (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.791del (p.Gly264fs) rs61750232
NM_001110792.2(MECP2):c.791dup (p.Arg265fs) rs61750232
NM_001110792.2(MECP2):c.792_795del (p.Arg265fs) rs267608523
NM_001110792.2(MECP2):c.792_799dup (p.Arg267fs) rs61750235
NM_001110792.2(MECP2):c.793_799dup (p.Arg267fs)
NM_001110792.2(MECP2):c.793delinsTT (p.Arg265fs)
NM_001110792.2(MECP2):c.796A>T (p.Lys266Ter) rs63259763
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.802A>T (p.Lys268Ter) rs786205027
NM_001110792.2(MECP2):c.802_815dup (p.Asp272fs) rs267608524
NM_001110792.2(MECP2):c.803_1211del (p.Lys268fs) rs1557135596
NM_001110792.2(MECP2):c.804_805insAAAAAAA (p.Ala269fs)
NM_001110792.2(MECP2):c.808_1334del (p.Glu270fs) rs2148658938
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.818del (p.Pro273fs)
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter) rs267608525
NM_001110792.2(MECP2):c.821_854del (p.Gln274fs) rs786205028
NM_001110792.2(MECP2):c.826_844del (p.Ile276fs)
NM_001110792.2(MECP2):c.828_829del (p.Pro277fs) rs267608526
NM_001110792.2(MECP2):c.82C>T (p.Gln28Ter) rs61754424
NM_001110792.2(MECP2):c.835A>T (p.Lys279Ter) rs61750238
NM_001110792.2(MECP2):c.83_93del (p.Gln28fs) rs797045694
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.843_*125del (p.Gly281_Ter499delinsXaa) rs1557134716
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.844dup (p.Arg282fs)
NM_001110792.2(MECP2):c.846_849del (p.Lys283fs) rs267608529
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs) rs61750242
NM_001110792.2(MECP2):c.852_868del (p.Gly285fs) rs63749012
NM_001110792.2(MECP2):c.855del (p.Ser286fs) rs267608530
NM_001110792.2(MECP2):c.856_859dup (p.Val287fs)
NM_001110792.2(MECP2):c.857_1123del (p.Ser286_Pro374del)
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del) rs1557135541
NM_001110792.2(MECP2):c.860_861del (p.Val287fs) rs1557136374
NM_001110792.2(MECP2):c.865del (p.Ala289fs)
NM_001110792.2(MECP2):c.866del (p.Ala289fs) rs61750247
NM_001110792.2(MECP2):c.86dup (p.Asp29fs) rs267608416
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) rs1557136146
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.876del (p.Ala293fs) rs1557136332
NM_001110792.2(MECP2):c.878_879insT (p.Glu294fs)
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs) rs1557135197
NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu) rs61750255
NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs) rs1557135499
NM_001110792.2(MECP2):c.890del (p.Lys297fs) rs267608531
NM_001110792.2(MECP2):c.890dup (p.Lys298fs) rs267608531
NM_001110792.2(MECP2):c.891_895delinsAAAAAAAAGACT (p.Ala299fs) rs786205030
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs) rs61750256
NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg) rs267608533
NM_001110792.2(MECP2):c.893_894dup (p.Ala299fs)
NM_001110792.2(MECP2):c.899_917del (p.Val300fs)
NM_001110792.2(MECP2):c.900dup (p.Lys301fs) rs267608535
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter) rs61750259
NM_001110792.2(MECP2):c.901_902del (p.Lys301fs) rs267608536
NM_001110792.2(MECP2):c.903_1259delinsA (p.Ser303fs) rs1557135218
NM_001110792.2(MECP2):c.905_916delinsCACA (p.Glu302fs) rs786205031
NM_001110792.2(MECP2):c.905dup (p.Ser303fs) rs267608538
NM_001110792.2(MECP2):c.907T>G (p.Ser303Ala) rs61751360
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) rs1557136013
NM_001110792.2(MECP2):c.910_911insA (p.Ser304fs) rs61751361
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.916_920del (p.Arg306fs) rs61751364
NM_001110792.2(MECP2):c.917G>C (p.Arg306Pro) rs61751366
NM_001110792.2(MECP2):c.917_1208del (p.Arg306fs) rs1603307859
NM_001110792.2(MECP2):c.917_938del (p.Arg306fs) rs267608540
NM_001110792.2(MECP2):c.919del (p.Ser307fs) rs267608541
NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter) rs61754425
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) rs61751367
NM_001110792.2(MECP2):c.92dup (p.Leu33fs) rs267608417
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs) rs1557135907
NM_001110792.2(MECP2):c.932_936delinsGCCCGAGAG (p.Thr311fs)
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.934_1135del (p.Val312fs) rs1557135893
NM_001110792.2(MECP2):c.934_1202del (p.Val312fs) rs1557135666
NM_001110792.2(MECP2):c.934_935dup (p.Leu313fs)
NM_001110792.2(MECP2):c.934_937del (p.Val312fs) rs62701461
NM_001110792.2(MECP2):c.934_940del (p.Val312fs) rs267608543
NM_001110792.2(MECP2):c.934del (p.Val312fs) rs267608544
NM_001110792.2(MECP2):c.936_944del (p.Leu313_Ile315del) rs267608545
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) rs1557136251
NM_001110792.2(MECP2):c.939C>T (p.Leu313=) rs61751372
NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr) rs61751373
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) rs61751373
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.942_1174delinsAC (p.Ile315_Val392delinsLeu) rs1557135788
NM_001110792.2(MECP2):c.942del (p.Ile315fs) rs267608548
NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser) rs267608549
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) rs61751440
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg) rs267608550
NM_001110792.2(MECP2):c.948G>C (p.Lys316Asn) rs1603308358
NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu) rs267608551
NM_001110792.2(MECP2):c.950A>C (p.Lys317Thr)
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) rs61751441
NM_001110792.2(MECP2):c.950_1208del (p.Lys317fs) rs1557135622
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>T (p.Arg318Leu) rs61751443
NM_001110792.2(MECP2):c.956_976del (p.Lys319_Ser325del)
NM_001110792.2(MECP2):c.95del (p.Gly32fs) rs1603310910
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.972C>T (p.Val324=) rs398124188
NM_001110792.2(MECP2):c.988dup (p.Glu330fs) rs1603308287
NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala) rs61751448
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388
NM_001110792.2(MECP2):c.997A>G (p.Lys333Glu) rs2148661783
NM_001110792.2(MECP2):c.998_1303delinsG (p.Lys333fs) rs1557135128
NM_004992.3(MECP2):c.(?_-1)_(26_?)del
NM_004992.3(MECP2):c.(?_-226)_(*1_?)del
NM_004992.3(MECP2):c.(?_-226)_26+?del
NM_004992.3(MECP2):c.(?_1)_26+?dup
NM_004992.3(MECP2):c.(?_1017)_(1397_?)del
NM_004992.3(MECP2):c.(?_1044)_(1442_?)del
NM_004992.3(MECP2):c.(?_1169)_(1170_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1169)_(1397_?)del
NM_004992.3(MECP2):c.(?_1367)_(1431_?)del (p.(?))
NM_004992.3(MECP2):c.(?_248)_(320_?)del
NM_004992.3(MECP2):c.(?_27)_(367_?)del
NM_004992.3(MECP2):c.(?_378)_(1170_?)del
NM_004992.3(MECP2):c.(?_378)_(1185_?)del
NM_004992.3(MECP2):c.(?_378)_(1337_?)del
NM_004992.3(MECP2):c.(?_631)_(657_?)del (p.(?))
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))
NM_004992.3(MECP2):c.-98-?_377+?del
NM_004992.3(MECP2):c.1-?dup
NM_004992.3(MECP2):c.1101_(1396_?)del
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
NM_004992.3(MECP2):c.1276_*113del299ins3
NM_004992.3(MECP2):c.27-12521_*5072del
NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG
NM_004992.3(MECP2):c.27-4722_*739delins43
NM_004992.3(MECP2):c.27-5774_902delinsGTGCCCGGACTGATGTCA
NM_004992.3(MECP2):c.27-6026_1190delinsGT
NM_004992.3(MECP2):c.481_987del507ins8
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.820_1153del334ins67 (p.?)
NM_004992.3(MECP2):c.830_831ins23 (p.?)
NM_004992.3(MECP2):c.943_1140del198ins6
NM_004992.3:c.(?_184)_(1065_?)del
NM_004992.3:c.(?_27)_(*1_?)del
NM_004992.3:c.(?_27)_(*8554_?)del
NM_004992.3:c.(?_27)_(1018_?)del
NM_004992.3:c.(?_27)_(1021_?)del
NM_004992.3:c.(?_27)_(1029_?)del
NM_004992.3:c.(?_27)_(1170_?)del
NM_004992.3:c.(?_27)_(1185_?)del
NM_004992.3:c.(?_27)_(1337_?)del
NM_004992.3:c.(?_27)_(1397_?)del
NM_004992.3:c.(?_27)_(378_1461)del
NM_004992.3:c.(?_27)_(378_?)del
NM_004992.3:c.343_1182del
NM_004992.4(MECP2):c.1A>T (p.Met1Leu) rs786205892
NM_004992.4(MECP2):c.20G>A (p.Gly7Glu) rs1057517905
NM_004992.4(MECP2):c.26+2T>A rs267608409

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