NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)
|
rs267608440
|
0.00003
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NM_001110792.1:c.384_1164del
|
|
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NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs)
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rs1557135418
|
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NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs)
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rs1557135664
|
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NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter)
|
rs267608569
|
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NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs)
|
rs267608372
|
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NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
NM_001110792.2(MECP2):c.1194_*117del (p.Pro399fs)
|
rs1557134720
|
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NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs)
|
rs267608600
|
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NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
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NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer)
|
rs267608609
|
|
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter)
|
rs63094662
|
|
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter)
|
rs61753979
|
|
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter)
|
rs61754432
|
|
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter)
|
rs61754437
|
|
NM_001110792.2(MECP2):c.251del (p.Pro84fs)
|
rs61754441
|
|
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs)
|
rs797045693
|
|
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser)
|
rs61754452
|
|
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)
|
rs61754453
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)
|
rs61748403
|
|
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.509C>T (p.Thr170Met)
|
rs28934906
|
|
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.701_707dup (p.Met236fs)
|
rs797045695
|
|
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr)
|
rs267608513
|
|
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.766C>T (p.Gln256Ter)
|
rs61749747
|
|
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs)
|
rs267608520
|
|
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.791del (p.Gly264fs)
|
rs61750232
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.83_93del (p.Gln28fs)
|
rs797045694
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs)
|
rs1557136146
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.92dup (p.Leu33fs)
|
rs267608417
|
|
NM_001110792.2(MECP2):c.934_1202del (p.Val312fs)
|
rs1557135666
|
|
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.1276_*113del299ins3
|
|
|
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
|
|
|
NM_004992.3(MECP2):c.943_1140del198ins6
|
|
|