NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)
|
rs61751450
|
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NM_001110792.2(MECP2):c.1043_1133delinsCTGTAAGTGCAC (p.Leu348fs)
|
rs1557135901
|
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NM_001110792.2(MECP2):c.1121_1222delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC (p.Pro374fs)
|
rs1557135516
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NM_001110792.2(MECP2):c.1122del (p.Lys375fs)
|
rs587783092
|
|
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)
|
rs587783092
|
|
NM_001110792.2(MECP2):c.1155dup (p.Glu386fs)
|
rs1557135851
|
|
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)
|
rs1557135353
|
|
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs)
|
rs267608571
|
|
NM_001110792.2(MECP2):c.1173dup (p.Val392fs)
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rs1557135793
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|
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
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|
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NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)
|
rs267608382
|
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NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
|
rs267608329
|
|
NM_001110792.2(MECP2):c.1193_1205del (p.Leu398fs)
|
rs1603307876
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NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
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rs63749748
|
|
NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs)
|
rs267608332
|
|
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs)
|
rs267608592
|
|
NM_001110792.2(MECP2):c.1197_1302del (p.Pro400fs)
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rs1557135140
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NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)
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rs267608597
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|
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer)
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rs2065919863
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NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs)
|
rs267608601
|
|
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)
|
rs267608589
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|
NM_001110792.2(MECP2):c.1199del (p.Pro400fs)
|
rs267608339
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|
NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs)
|
rs2148660011
|
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NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)
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rs781843758
|
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NM_001110792.2(MECP2):c.1245del (p.Glu416fs)
|
rs1064796837
|
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NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter)
|
rs61753965
|
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NM_001110792.2(MECP2):c.1326dup (p.Lys443fs)
|
rs587783095
|
|
NM_001110792.2(MECP2):c.1354dup (p.Val452fs)
|
rs1603307453
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NM_001110792.2(MECP2):c.138del (p.Asp46fs)
|
rs1557137983
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NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter)
|
rs61753979
|
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NM_001110792.2(MECP2):c.1451_1452dup (p.Glu485fs)
|
|
|
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter)
|
rs587777421
|
|
NM_001110792.2(MECP2):c.157_160del (p.Gly53fs)
|
rs1603310863
|
|
NM_001110792.2(MECP2):c.311del (p.Gly104fs)
|
rs267608446
|
|
NM_001110792.2(MECP2):c.331dup (p.Thr111fs)
|
rs1603310755
|
|
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val)
|
rs28935168
|
|
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.361A>G (p.Lys121Glu)
|
rs886041732
|
|
NM_001110792.2(MECP2):c.380G>A (p.Arg127His)
|
|
|
NM_001110792.2(MECP2):c.395A>G (p.Tyr132Cys)
|
|
|
NM_001110792.2(MECP2):c.400G>A (p.Val134Met)
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rs267608455
|
|
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs)
|
rs1557150846
|
|
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>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.446A>G (p.Glu149Gly)
|
rs61748392
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.48C>T (p.Gly16=)
|
rs786205045
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)
|
rs61748408
|
|
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.516_517del (p.Gly173fs)
|
rs267608486
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.592A>T (p.Arg198Ter)
|
rs587783136
|
|
NM_001110792.2(MECP2):c.62+2T>A
|
rs1557150841
|
|
NM_001110792.2(MECP2):c.62+2T>G
|
rs1557150841
|
|
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter)
|
rs61749729
|
|
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)
|
rs61749715
|
|
NM_001110792.2(MECP2):c.726del (p.Gly244fs)
|
rs1064793576
|
|
NM_001110792.2(MECP2):c.789del (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
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.855del (p.Ser286fs)
|
rs267608530
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
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.946A>C (p.Lys316Gln)
|
rs61751440
|
|
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu)
|
rs61751440
|
|
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.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?)
|
|
|
NM_004992.4(MECP2):c.20G>A (p.Gly7Glu)
|
rs1057517905
|
|