NM_001110792.2(MECP2):c.1269C>T (p.Ser423=)
|
rs3027928
|
0.01726
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001110792.2(MECP2):c.855G>T (p.Gly285=)
|
rs61750245
|
0.00046
|
NM_001110792.2(MECP2):c.870C>T (p.Ala290=)
|
rs61750248
|
0.00041
|
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.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=)
|
rs61752980
|
0.00020
|
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=)
|
rs781816931
|
0.00019
|
NM_001110792.2(MECP2):c.1176G>A (p.Val392=)
|
rs201711454
|
0.00015
|
NM_001110792.2(MECP2):c.*13C>T
|
rs782334844
|
0.00013
|
NM_001110792.2(MECP2):c.771C>G (p.Val257=)
|
rs782027467
|
0.00013
|
NM_001110792.2(MECP2):c.789C>T (p.Pro263=)
|
rs63582063
|
0.00013
|
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser)
|
rs61749731
|
0.00012
|
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)
|
rs63390262
|
0.00010
|
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys)
|
rs63094662
|
0.00009
|
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)
|
rs193922677
|
0.00009
|
NM_001110792.2(MECP2):c.756C>T (p.Thr252=)
|
rs61749746
|
0.00009
|
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=)
|
rs61750246
|
0.00007
|
NM_001110792.2(MECP2):c.414-20C>G
|
rs368684221
|
0.00006
|
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro)
|
rs61752371
|
0.00005
|
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg)
|
rs61749701
|
0.00005
|
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr)
|
rs782239416
|
0.00004
|
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met)
|
rs193922678
|
0.00003
|
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys)
|
rs782314807
|
0.00003
|
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly)
|
rs587783138
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001110792.2(MECP2):c.108A>G (p.Lys36=)
|
rs782202329
|
0.00002
|
NM_001110792.2(MECP2):c.1151A>C (p.His384Pro)
|
rs782019867
|
0.00002
|
NM_001110792.2(MECP2):c.1153T>C (p.Ser385Pro)
|
rs782420258
|
0.00002
|
NM_001110792.2(MECP2):c.1154C>A (p.Ser385Ter)
|
rs267608569
|
0.00002
|
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu)
|
rs193922676
|
0.00002
|
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys)
|
rs587777421
|
0.00002
|
NM_001110792.2(MECP2):c.414-6C>G
|
rs782482746
|
0.00002
|
NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys)
|
rs1234894476
|
0.00002
|
NM_001110792.2(MECP2):c.645G>A (p.Thr215=)
|
rs61749722
|
0.00002
|
NM_001110792.2(MECP2):c.1017C>T (p.Thr339=)
|
rs1015722593
|
0.00001
|
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe)
|
rs1340029095
|
0.00001
|
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.(?_153287263)_(153363189_?)dup
|
|
|
NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter)
|
rs61752372
|
|
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr)
|
rs2148661261
|
|
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs)
|
rs267608585
|
|
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.1195delinsAGCCCACCTCCCA (p.Pro399delinsSerProProProThr)
|
rs1557135722
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)
|
rs2148659508
|
|
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys)
|
rs1569548273
|
|
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs)
|
rs267608424
|
|
NM_001110792.2(MECP2):c.254_260del (p.Ala85fs)
|
rs2148666767
|
|
NM_001110792.2(MECP2):c.271G>T (p.Ala91Ser)
|
rs1557137845
|
|
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp)
|
rs267608450
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly)
|
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
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.459C>G (p.Tyr153Ter)
|
rs61748396
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu)
|
rs267608484
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.528C>T (p.Ser176=)
|
rs1557136964
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr)
|
rs61748426
|
|
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter)
|
rs193922679
|
|
NM_001110792.2(MECP2):c.62+5439T>C
|
rs2148763055
|
|
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr)
|
|
|
NM_001110792.2(MECP2):c.661G>T (p.Val221Leu)
|
rs2065951467
|
|
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu)
|
rs878853312
|
|
NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu)
|
rs878853313
|
|
NM_001110792.2(MECP2):c.746del (p.Gly249fs)
|
rs61749743
|
|
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp)
|
rs1557136591
|
|
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs)
|
rs1569548428
|
|
NM_001110792.2(MECP2):c.786C>G (p.Arg262=)
|
rs61748424
|
|
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.806C>A (p.Ala269Asp)
|
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)
|
rs61751370
|
|
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met)
|
rs61751439
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.959C>G (p.Thr320Ser)
|
rs1557136171
|
|