NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)
|
rs61753971
|
0.00011
|
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs)
|
rs267608339
|
0.00010
|
NM_001110792.2(MECP2):c.414-3C>T
|
rs267608465
|
0.00003
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
GRCh37/hg19 Xq28(chrX:153295818-153298008)
|
|
|
GRCh37/hg19 Xq28(chrX:153296089-153296700)
|
|
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GRCh37/hg19 Xq28(chrX:153297497-153317825)
|
|
|
GRCh38/hg38 Xq28(chrX:154022066-154044684)x1
|
|
|
GRCh38/hg38 Xq28(chrX:154022066-154065465)x1
|
|
|
GRCh38/hg38 Xq28(chrX:154024864-154029207)x1
|
|
|
GRCh38/hg38 Xq28(chrX:154030850-154034917)x1
|
|
|
NC_000023.10:g.(153296026_153296261)_(153298009_153357641)del
|
|
|
NC_000023.10:g.(?_153285725)_(153296182_?)del
|
|
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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.(?_153287263)_(153363189_?)dup
|
|
|
NC_000023.10:g.(?_153287264)_(153363188_?)dup
|
|
|
NC_000023.10:g.(?_153288018)_(153296120_?)del
|
|
|
NC_000023.10:g.(?_153292262)_(153297628_?)del
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|
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NC_000023.10:g.(?_153292375)_(153296122_?)del
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|
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NC_000023.10:g.(?_153292923)_(153296117_?)del
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|
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NC_000023.10:g.(?_153294907)_(153296120_?)del
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|
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NC_000023.10:g.(?_153295063)_(153296130_?)del
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|
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NC_000023.10:g.(?_153295250)_(153296129_?)del
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|
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NC_000023.10:g.(?_153295412)_(153306710_?)del
|
|
|
NC_000023.10:g.(?_153295526)_(153296087_?)del
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|
|
NC_000023.10:g.(?_153295580)_(153296752_?)del
|
|
|
NC_000023.10:g.(?_153295726)_(153298028_?)del
|
|
|
NC_000023.10:g.(?_153295726)_(153363142_?)dup
|
|
|
NC_000023.10:g.(?_153295798)_(153298028_?)del
|
|
|
NC_000023.10:g.(?_153295885)_(153296418_?)del
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|
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NC_000023.10:g.(?_153296084)_(153338974_?)del
|
|
|
NC_000023.10:g.(?_153296086)_(153297264_?)del
|
|
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NC_000023.10:g.(?_153296091)_(153303781_?)del
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|
|
NC_000023.10:g.(?_153296093)_(153303797_?)del
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|
|
NC_000023.10:g.(?_153296108)_(153301856_?)del
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|
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NC_000023.10:g.(?_153296109)_(153297633_?)del
|
|
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NC_000023.10:g.(?_153296154)_153302832del
|
|
|
NC_000023.10:g.(?_153296231)_(153303837_?)del
|
|
|
NC_000023.10:g.(?_153296339)_(153306264_?)del
|
|
|
NC_000023.10:g.(?_153297634)_(153298028_?)del
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|
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NC_000023.10:g.(?_153357622)_(153363142_?)del
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|
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NC_000023.10:g.(?_153363041)_(153363142_?)del
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|
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NC_000023.10:g.153296106_153296275delins[NC_000008.10:g.50305003_50392184inv;TTACACAG]
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|
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NM_001110792.1:c.384_1164del
|
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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.1007_1364del (p.Leu336fs)
|
|
|
NM_001110792.2(MECP2):c.100A>T (p.Lys34Ter)
|
rs62641234
|
|
NM_001110792.2(MECP2):c.1019_1233del (p.Leu340fs)
|
rs2065914451
|
|
NM_001110792.2(MECP2):c.1020_1021insA (p.Gly341fs)
|
rs2148661665
|
|
NM_001110792.2(MECP2):c.1025_1030delinsGCATCTTCTCCTCTTT (p.Glu342fs)
|
rs61751456
|
|
NM_001110792.2(MECP2):c.1030_1031del (p.Ser344fs)
|
|
|
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.1033_1037del (p.Gly345fs)
|
rs1569548376
|
|
NM_001110792.2(MECP2):c.1043_1133delinsCTGTAAGTGCAC (p.Leu348fs)
|
rs1557135901
|
|
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.1055dup (p.Ser353fs)
|
rs1557136059
|
|
NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs)
|
rs1060499620
|
|
NM_001110792.2(MECP2):c.1064_1194del (p.Gly355fs)
|
rs1557135728
|
|
NM_001110792.2(MECP2):c.1065del (p.Arg356fs)
|
rs61751457
|
|
NM_001110792.2(MECP2):c.1066_1231delinsGT (p.Arg356fs)
|
rs1557135402
|
|
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg)
|
rs61752365
|
|
NM_001110792.2(MECP2):c.1075_1231delinsGT (p.Lys359fs)
|
rs1557135400
|
|
NM_001110792.2(MECP2):c.1075_1300delinsCCAAAGGCCCCCGTGCCACT (p.Lys359fs)
|
|
|
NM_001110792.2(MECP2):c.1077_*29del (p.Lys359_Ter499delinsXaa)
|
rs1557134784
|
|
NM_001110792.2(MECP2):c.1078_1248delinsT (p.Glu360fs)
|
|
|
NM_001110792.2(MECP2):c.1080_1125del (p.Ser361fs)
|
rs2065928811
|
|
NM_001110792.2(MECP2):c.1082_1242del (p.Ser361fs)
|
rs1557135268
|
|
NM_001110792.2(MECP2):c.1084_1235del (p.Ser362fs)
|
rs1557135350
|
|
NM_001110792.2(MECP2):c.1087_1209delinsACCACCACCA (p.Pro363fs)
|
|
|
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.1092_1165del (p.Arg366fs)
|
|
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NM_001110792.2(MECP2):c.1093_1255del (p.Gly365fs)
|
rs1557135225
|
|
NM_001110792.2(MECP2):c.1095_1226delinsACTCTGAGTGGTGGTGATGGTGGT (p.Arg366_Glu409delinsLeuTer)
|
|
|
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del)
|
rs267608564
|
|
NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs)
|
rs1557135664
|
|
NM_001110792.2(MECP2):c.1111_1214del (p.Ser371fs)
|
|
|
NM_001110792.2(MECP2):c.1114_*2524del (p.Ser372fs)
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|
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NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter)
|
rs61752372
|
|
NM_001110792.2(MECP2):c.1120_1252del (p.Pro374fs)
|
rs2148659417
|
|
NM_001110792.2(MECP2):c.1121_1222delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC (p.Pro374fs)
|
rs1557135516
|
|
NM_001110792.2(MECP2):c.1122del (p.Lys375fs)
|
rs587783092
|
|
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)
|
rs587783092
|
|
NM_001110792.2(MECP2):c.1123A>T (p.Lys375Ter)
|
rs61752375
|
|
NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs)
|
rs1064792898
|
|
NM_001110792.2(MECP2):c.1126A>T (p.Lys376Ter)
|
|
|
NM_001110792.2(MECP2):c.112del (p.Leu38fs)
|
rs61754426
|
|
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.1134_1237del (p.His378fs)
|
|
|
NM_001110792.2(MECP2):c.1135_1154del (p.His379fs)
|
rs267608567
|
|
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.1141_1261del (p.His381fs)
|
rs1557135213
|
|
NM_001110792.2(MECP2):c.1141del (p.His381fs)
|
rs267608568
|
|
NM_001110792.2(MECP2):c.1143_1192delinsCCCCCG (p.His382fs)
|
|
|
NM_001110792.2(MECP2):c.1143_1234del (p.His382fs)
|
|
|
NM_001110792.2(MECP2):c.1143_1237del (p.His381fs)
|
rs2148659692
|
|
NM_001110792.2(MECP2):c.1147dup (p.His383fs)
|
rs1057519404
|
|
NM_001110792.2(MECP2):c.1149_1237del (p.His383fs)
|
|
|
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.1154C>G (p.Ser385Ter)
|
rs267608569
|
|
NM_001110792.2(MECP2):c.1155dup (p.Glu386fs)
|
rs1557135851
|
|
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs)
|
rs1557135447
|
|
NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs)
|
rs1557135299
|
|
NM_001110792.2(MECP2):c.1163_1173del (p.Pro388fs)
|
rs267608340
|
|
NM_001110792.2(MECP2):c.1163_1187del (p.Pro388fs)
|
|
|
NM_001110792.2(MECP2):c.1163_1215del (p.Pro388fs)
|
rs1557135575
|
|
NM_001110792.2(MECP2):c.1163_1233del (p.Pro388fs)
|
|
|
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_1229del (p.Lys389fs)
|
rs1557135423
|
|
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)
|
rs1557135353
|
|
NM_001110792.2(MECP2):c.1165_1264del (p.Lys389fs)
|
|
|
NM_001110792.2(MECP2):c.1168_1169del (p.Ala390fs)
|
rs2065925520
|
|
NM_001110792.2(MECP2):c.1168_1169insT (p.Ala390fs)
|
rs2065925648
|
|
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs)
|
rs1557135295
|
|
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val)
|
rs201314910
|
|
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.1173del (p.Val392fs)
|
rs1557135793
|
|
NM_001110792.2(MECP2):c.1173dup (p.Val392fs)
|
rs1557135793
|
|
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
|
|
|
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)
|
rs267608382
|
|
NM_001110792.2(MECP2):c.1178_1263del (p.Pro393fs)
|
rs1557135212
|
|
NM_001110792.2(MECP2):c.1179_1183del (p.Leu394fs)
|
|
|
NM_001110792.2(MECP2):c.1179_1186del (p.Leu394fs)
|
rs2148660746
|
|
NM_001110792.2(MECP2):c.1180dup (p.Leu394fs)
|
rs2148660777
|
|
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.1184_1228delinsC (p.Leu395fs)
|
|
|
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_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_1207del (p.Pro396_Pro397insTer)
|
rs1557135631
|
|
NM_001110792.2(MECP2):c.1188_1226delinsGGAGCTCTCGGGTGGTGGT (p.Pro397fs)
|
|
|
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs)
|
rs267608372
|
|
NM_001110792.2(MECP2):c.1189_*1302delinsTCCCG (p.Pro397fs)
|
|
|
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_1226delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro397_Glu409delinsGlnGlnAsnSerProProTer)
|
rs1569548307
|
|
NM_001110792.2(MECP2):c.1190_1233del (p.Pro397fs)
|
rs267608579
|
|
NM_001110792.2(MECP2):c.1190_1269del (p.Pro397fs)
|
|
|
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.1192_1193dup (p.Pro399fs)
|
rs267608584
|
|
NM_001110792.2(MECP2):c.1192_1202del (p.Leu398fs)
|
|
|
NM_001110792.2(MECP2):c.1192_1208del (p.Pro397_Leu398insTer)
|
rs267608582
|
|
NM_001110792.2(MECP2):c.1192_1224del (p.Leu398_Ser408del)
|
rs1569548314
|
|
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs)
|
|
|
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)
|
|
|
NM_001110792.2(MECP2):c.1193_1205del (p.Leu398fs)
|
rs1603307876
|
|
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_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_*3444del (p.Pro399fs)
|
|
|
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_1202del (p.Pro399fs)
|
rs2148660481
|
|
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_1279del (p.Pro399fs)
|
rs2065908727
|
|
NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del)
|
rs1557134858
|
|
NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs)
|
rs267608332
|
|
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_1275del (p.Pro399fs)
|
|
|
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_1252del (p.Pro400fs)
|
|
|
NM_001110792.2(MECP2):c.1197_1302del (p.Pro400fs)
|
rs1557135140
|
|
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)
|
rs1557134946
|
|
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_1208del (p.Pro399_Pro400insTer)
|
rs2065919863
|
|
NM_001110792.2(MECP2):c.1199_*39del (p.Pro400fs)
|
rs1557134770
|
|
NM_001110792.2(MECP2):c.1199_1204delinsTCAGGTATAT (p.Pro400fs)
|
|
|
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_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro400_Gly440delinsGlnTer)
|
rs1557135110
|
|
NM_001110792.2(MECP2):c.1199del (p.Pro400fs)
|
rs267608339
|
|
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_1242del (p.Pro401fs)
|
rs267608603
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1200del (p.Pro401fs)
|
rs267608606
|
|
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.1202dup (p.Pro402fs)
|
rs797044733
|
|
NM_001110792.2(MECP2):c.1203_1231del (p.Pro402fs)
|
|
|
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs)
|
rs267608343
|
|
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer)
|
rs267608609
|
|
NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs)
|
rs2148658325
|
|
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)
|
rs2148659508
|
|
NM_001110792.2(MECP2):c.1213_1226del (p.Pro405fs)
|
|
|
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.1222_1231del (p.Ser408fs)
|
|
|
NM_001110792.2(MECP2):c.1222_1313del (p.Ser408fs)
|
|
|
NM_001110792.2(MECP2):c.1223_1365del (p.Ser408fs)
|
|
|
NM_001110792.2(MECP2):c.1225G>T (p.Glu409Ter)
|
rs56268439
|
|
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs)
|
rs267608610
|
|
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.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.1243_*586del (p.Pro415fs)
|
|
|
NM_001110792.2(MECP2):c.1244del (p.Pro415fs)
|
rs781843758
|
|
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)
|
rs781843758
|
|
NM_001110792.2(MECP2):c.1245del (p.Glu416fs)
|
rs1064796837
|
|
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.1259_1301del (p.Leu420fs)
|
rs63749038
|
|
NM_001110792.2(MECP2):c.1267_*76del (p.Val424fs)
|
|
|
NM_001110792.2(MECP2):c.1267_1355del (p.Ser423fs)
|
|
|
NM_001110792.2(MECP2):c.1268dup (p.Ser423fs)
|
rs2148659330
|
|
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.1275_*863del (p.Cys425_Ter499delinsXaa)
|
|
|
NM_001110792.2(MECP2):c.1277_1278del (p.Lys426fs)
|
rs2148659257
|
|
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer)
|
rs61754427
|
|
NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG (p.Gly434fs)
|
rs63749064
|
|
NM_001110792.2(MECP2):c.1304_1317del (p.Ser435fs)
|
rs2065907079
|
|
NM_001110792.2(MECP2):c.1307_1452del (p.Leu436fs)
|
rs1557134923
|
|
NM_001110792.2(MECP2):c.1314_1315insCGTCACTA (p.Asp439delinsArgHisTer)
|
rs2065907185
|
|
NM_001110792.2(MECP2):c.1326dup (p.Lys443fs)
|
rs587783095
|
|
NM_001110792.2(MECP2):c.1328dup (p.Glu444fs)
|
rs2148658967
|
|
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs)
|
rs61753972
|
|
NM_001110792.2(MECP2):c.1352_1353del (p.Ala451fs)
|
rs1557135091
|
|
NM_001110792.2(MECP2):c.1354dup (p.Val452fs)
|
rs1603307453
|
|
NM_001110792.2(MECP2):c.1356dup (p.Ala453fs)
|
rs267608624
|
|
NM_001110792.2(MECP2):c.1360_1400del (p.Thr454fs)
|
rs267608625
|
|
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.1384dup (p.Tyr462fs)
|
rs1557135004
|
|
NM_001110792.2(MECP2):c.138del (p.Asp46fs)
|
rs1557137983
|
|
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.140_144del (p.Lys47fs)
|
rs2148667088
|
|
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.1440dup (p.Pro481fs)
|
rs2065902096
|
|
NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs)
|
rs786205023
|
|
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.1451_1452dup (p.Glu485fs)
|
|
|
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter)
|
rs587777421
|
|
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_*12del (p.Val497fs)
|
rs2065899494
|
|
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.153dup (p.Glu52fs)
|
rs267608427
|
|
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs)
|
rs267608428
|
|
NM_001110792.2(MECP2):c.157_160del (p.Gly53fs)
|
rs1603310863
|
|
NM_001110792.2(MECP2):c.162dup (p.His55fs)
|
rs61754430
|
|
NM_001110792.2(MECP2):c.176dup (p.Pro60fs)
|
rs61754431
|
|
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.203_204del (p.Pro68fs)
|
rs267608434
|
|
NM_001110792.2(MECP2):c.20_27dup (p.Ser10fs)
|
|
|
NM_001110792.2(MECP2):c.214G>A (p.Gly72Ser)
|
|
|
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.230C>G (p.Ser77Ter)
|
rs61754437
|
|
NM_001110792.2(MECP2):c.230C>T (p.Ser77Leu)
|
rs61754437
|
|
NM_001110792.2(MECP2):c.231del (p.Glu78fs)
|
rs2148666876
|
|
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.245_246insA (p.Ala83fs)
|
rs2065987178
|
|
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.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.280A>T (p.Lys94Ter)
|
rs1603310794
|
|
NM_001110792.2(MECP2):c.283C>T (p.Gln95Ter)
|
rs2148666695
|
|
NM_001110792.2(MECP2):c.294_295del (p.Ile99fs)
|
rs267608444
|
|
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.319_322del (p.Tyr107fs)
|
rs1557137776
|
|
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.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.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>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.361A>G (p.Lys121Glu)
|
rs886041732
|
|
NM_001110792.2(MECP2):c.362dup (p.Gln122fs)
|
rs267608452
|
|
NM_001110792.2(MECP2):c.377_385del (p.Gly126_Ser128del)
|
rs1557137675
|
|
NM_001110792.2(MECP2):c.380G>A (p.Arg127His)
|
|
|
NM_001110792.2(MECP2):c.381del (p.Ser128fs)
|
rs61755761
|
|
NM_001110792.2(MECP2):c.395A>G (p.Tyr132Cys)
|
|
|
NM_001110792.2(MECP2):c.400G>A (p.Val134Met)
|
rs267608455
|
|
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+1G>A
|
rs267608463
|
|
NM_001110792.2(MECP2):c.413+1G>T
|
rs267608463
|
|
NM_001110792.2(MECP2):c.413+2T>G
|
rs267608458
|
|
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.414-3_419del
|
rs267608466
|
|
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.41_57dup (p.Arg20fs)
|
rs1557150846
|
|
NM_001110792.2(MECP2):c.426del (p.Ala143fs)
|
rs786205895
|
|
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp)
|
rs267608470
|
|
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.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.446A>G (p.Glu149Gly)
|
rs61748392
|
|
NM_001110792.2(MECP2):c.447del (p.Glu149fs)
|
rs61748393
|
|
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter)
|
rs267608475
|
|
NM_001110792.2(MECP2):c.44_57del (p.Gly15fs)
|
|
|
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>A (p.Tyr153Ter)
|
|
|
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)
|
rs61748396
|
|
NM_001110792.2(MECP2):c.464_465insT (p.Glu155fs)
|
rs61748398
|
|
NM_001110792.2(MECP2):c.466A>T (p.Lys156Ter)
|
rs61748399
|
|
NM_001110792.2(MECP2):c.467del (p.Lys156fs)
|
rs61748400
|
|
NM_001110792.2(MECP2):c.475del (p.Asp159fs)
|
rs62952161
|
|
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.487del (p.Asp163fs)
|
rs61748402
|
|
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.491_1199delinsTGCGT (p.Pro164fs)
|
|
|
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser)
|
rs28934905
|
|
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly)
|
rs61748407
|
|
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.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.516_517del (p.Gly173fs)
|
rs267608486
|
|
NM_001110792.2(MECP2):c.516del (p.Arg174fs)
|
rs61748415
|
|
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.52_59del (p.Glu18fs)
|
rs2066904707
|
|
NM_001110792.2(MECP2):c.531del (p.Ser178fs)
|
rs267608489
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
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.544C>T (p.Gln182Ter)
|
rs61748425
|
|
NM_001110792.2(MECP2):c.559A>T (p.Lys187Ter)
|
rs61748428
|
|
NM_001110792.2(MECP2):c.565A>T (p.Lys189Ter)
|
rs61749702
|
|
NM_001110792.2(MECP2):c.567del (p.Lys189fs)
|
rs61749703
|
|
NM_001110792.2(MECP2):c.573_574insT (p.Lys192Ter)
|
rs2148663769
|
|
NM_001110792.2(MECP2):c.574A>T (p.Lys192Ter)
|
rs267608495
|
|
NM_001110792.2(MECP2):c.579_580del (p.Pro194fs)
|
rs267608496
|
|
NM_001110792.2(MECP2):c.590del (p.Gly197fs)
|
rs61749707
|
|
NM_001110792.2(MECP2):c.592A>T (p.Arg198Ter)
|
rs587783136
|
|
NM_001110792.2(MECP2):c.59_60del (p.Arg20fs)
|
rs786205047
|
|
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.610A>T (p.Lys204Ter)
|
rs193922679
|
|
NM_001110792.2(MECP2):c.616_670del (p.Gly207fs)
|
|
|
NM_001110792.2(MECP2):c.618dup (p.Gly207fs)
|
rs2148663602
|
|
NM_001110792.2(MECP2):c.62+1G>A
|
rs786205048
|
|
NM_001110792.2(MECP2):c.62+2T>A
|
rs1557150841
|
|
NM_001110792.2(MECP2):c.62+2T>G
|
rs1557150841
|
|
NM_001110792.2(MECP2):c.62+2_62+3del
|
rs786205049
|
|
NM_001110792.2(MECP2):c.628A>T (p.Arg210Ter)
|
rs61749717
|
|
NM_001110792.2(MECP2):c.63-1928_1277del
|
|
|
NM_001110792.2(MECP2):c.63-2890_517del
|
|
|
NM_001110792.2(MECP2):c.63-2A>G
|
rs267608412
|
|
NM_001110792.2(MECP2):c.63-3928_1220del
|
|
|
NM_001110792.2(MECP2):c.63-4487_1204del
|
|
|
NM_001110792.2(MECP2):c.63-5778_1174del
|
|
|
NM_001110792.2(MECP2):c.63-6214_1227del
|
|
|
NM_001110792.2(MECP2):c.63-6C>G
|
rs267608411
|
|
NM_001110792.2(MECP2):c.63-7080_1196del
|
|
|
NM_001110792.2(MECP2):c.63-73_1087del
|
|
|
NM_001110792.2(MECP2):c.63-94_1243del
|
|
|
NM_001110792.2(MECP2):c.634A>T (p.Lys212Ter)
|
rs61749718
|
|
NM_001110792.2(MECP2):c.637dup (p.Ala213fs)
|
rs267608503
|
|
NM_001110792.2(MECP2):c.642del (p.Thr215fs)
|
rs2148663473
|
|
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.648dup (p.Glu217fs)
|
rs1557136758
|
|
NM_001110792.2(MECP2):c.649G>T (p.Glu217Ter)
|
rs61749726
|
|
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.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.670del (p.Val224fs)
|
rs2065950974
|
|
NM_001110792.2(MECP2):c.674dup (p.Glu226fs)
|
rs2148663296
|
|
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.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.714del (p.Gln239fs)
|
rs1060499621
|
|
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.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.744_751del (p.Gly249fs)
|
rs2065947222
|
|
NM_001110792.2(MECP2):c.745_746del (p.Gly249fs)
|
|
|
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.756dup (p.Thr253fs)
|
rs267608518
|
|
NM_001110792.2(MECP2):c.762del (p.Thr255fs)
|
|
|
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter)
|
rs61749747
|
|
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.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.785_786insT (p.Gly264fs)
|
rs1603308957
|
|
NM_001110792.2(MECP2):c.785_788dup (p.Gly264fs)
|
|
|
NM_001110792.2(MECP2):c.785dup (p.Gly264fs)
|
rs1603308963
|
|
NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer)
|
rs1064797104
|
|
NM_001110792.2(MECP2):c.786delinsTCAGGAAGCTT (p.Pro263fs)
|
rs267608521
|
|
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs)
|
rs61749751
|
|
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.796A>T (p.Lys266Ter)
|
rs63259763
|
|
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.801_1194del (p.Lys268fs)
|
rs1557135734
|
|
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.808_1334del (p.Glu270fs)
|
rs2148658938
|
|
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.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.842dup (p.Arg282fs)
|
|
|
NM_001110792.2(MECP2):c.843_*125del (p.Gly281_Ter499delinsXaa)
|
rs1557134716
|
|
NM_001110792.2(MECP2):c.843_855dup (p.Ser286fs)
|
rs587783091
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.844del (p.Arg282fs)
|
rs62931162
|
|
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.858_1220del (p.Val287_Ser407del)
|
rs1557135541
|
|
NM_001110792.2(MECP2):c.860_861del (p.Val287fs)
|
rs1557136374
|
|
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.876del (p.Ala293fs)
|
rs1557136332
|
|
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs)
|
rs1557135197
|
|
NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs)
|
rs1557135499
|
|
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.898_1014del (p.Val300_Ser338del)
|
rs2148661699
|
|
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.904dup (p.Glu302fs)
|
|
|
NM_001110792.2(MECP2):c.905_916delinsCACA (p.Glu302fs)
|
rs786205031
|
|
NM_001110792.2(MECP2):c.905dup (p.Ser303fs)
|
rs267608538
|
|
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del)
|
rs1557136013
|
|
NM_001110792.2(MECP2):c.908dup (p.Ser304fs)
|
|
|
NM_001110792.2(MECP2):c.910_911insA (p.Ser304fs)
|
rs61751361
|
|
NM_001110792.2(MECP2):c.912_916del (p.Arg306fs)
|
|
|
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.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.933_968del (p.Leu313_Val324del)
|
rs2065935510
|
|
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_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.938del (p.Leu313fs)
|
|
|
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.942_1174delinsAC (p.Ile315_Val392delinsLeu)
|
rs1557135788
|
|
NM_001110792.2(MECP2):c.942del (p.Ile315fs)
|
rs267608548
|
|
NM_001110792.2(MECP2):c.946A>C (p.Lys316Gln)
|
rs61751440
|
|
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu)
|
rs61751440
|
|
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del)
|
rs2148661952
|
|
NM_001110792.2(MECP2):c.948G>C (p.Lys316Asn)
|
rs1603308358
|
|
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.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.953G>T (p.Arg318Leu)
|
rs61751443
|
|
NM_001110792.2(MECP2):c.954_962del (p.Lys319_Arg321del)
|
rs2148661892
|
|
NM_001110792.2(MECP2):c.95del (p.Gly32fs)
|
rs1603310910
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001110792.2(MECP2):c.970dup (p.Val324fs)
|
rs2148661854
|
|
NM_001110792.2(MECP2):c.982_1248del (p.Val328_Glu416del)
|
rs1603307604
|
|
NM_001110792.2(MECP2):c.984_1023del (p.Lys329fs)
|
rs2148661645
|
|
NM_001110792.2(MECP2):c.988dup (p.Glu330fs)
|
rs1603308287
|
|
NM_001110792.2(MECP2):c.998_1303delinsG (p.Lys333fs)
|
rs1557135128
|
|
NM_001110792.2(MECP2):c.[1076_1102del;1124_1142del]
|
|
|
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.(?_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.(?_1169)_*(1_?)del
|
|
|
NM_004992.3(MECP2):c.(?_1336)_*(1_?)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.(?_378)_*(1_?)del
|
|
|
NM_004992.3(MECP2):c.(?_631)_(657_?)del (p.(?))
|
|
|
NM_004992.3(MECP2):c.-98-?_377+?del
|
|
|
NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?)
|
|
|
NM_004992.3(MECP2):c.1101_(1396_?)del
|
|
|
NM_004992.3(MECP2):c.1276_*113del299ins3
|
|
|
NM_004992.3(MECP2):c.249_250ins7
|
|
|
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.764_765ins8
|
|
|
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(MECP2):c.[1155_1200del;987_988del]
|
|
|
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
|
|
Single allele
|
|
|