NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys)
|
rs63094662
|
0.00009
|
NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr)
|
rs782086416
|
0.00003
|
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg)
|
rs267608492
|
0.00001
|
NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs)
|
rs1060499620
|
|
NM_001110792.2(MECP2):c.1065del (p.Arg356fs)
|
rs61751457
|
|
NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs)
|
rs1064792898
|
|
NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del)
|
rs1064792899
|
|
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del)
|
rs61752381
|
|
NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro)
|
rs1060499622
|
|
NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del)
|
rs1557135259
|
|
NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del)
|
rs267608579
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs)
|
rs1557134621
|
|
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del)
|
rs61753008
|
|
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs)
|
rs267608333
|
|
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter)
|
rs267608438
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu)
|
rs61748408
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.714del (p.Gln239fs)
|
rs1060499621
|
|
NM_001110792.2(MECP2):c.746dup (p.Gly250fs)
|
rs61749743
|
|
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs)
|
rs267608520
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)
|
rs61749723
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
|
rs61751443
|
|