NM_001110792.2(MECP2):c.1182_*452del (p.Leu394_Ter499delinsXaa)
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rs1557134481
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NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
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rs63749748
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NM_001110792.2(MECP2):c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro400_Gly440delinsGlnTer)
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rs1557135110
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NM_001110792.2(MECP2):c.1200_1242del (p.Pro401fs)
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rs267608603
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NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
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rs61752992
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NM_001110792.2(MECP2):c.426del (p.Ala143fs)
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rs786205895
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NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
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rs28934904
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NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
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rs61748404
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NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)
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rs61748408
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NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
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rs28934906
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NM_001110792.2(MECP2):c.62+2_62+3del
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rs786205049
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NM_001110792.2(MECP2):c.746dup (p.Gly250fs)
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rs61749743
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NM_001110792.2(MECP2):c.842del (p.Gly281fs)
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rs61750241
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NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
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rs61750240
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NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
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rs28935468
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NM_004992.4(MECP2):c.1A>T (p.Met1Leu)
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rs786205892
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NM_014795.3(ZEB2):c.(?_-522)_(*5076_?)del
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|
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NM_014795.3(ZEB2):c.3068-?_(*5076_?)del
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|
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NM_014795.3(ZEB2):c.404-?_(*5076_?)del
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|
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NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter)
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rs786204815
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|
NM_014795.4(ZEB2):c.1172_1182delinsTGACTTAAAATTAATG (p.Lys391_Pro394delinsMetThrTer)
|
rs786204805
|
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NM_014795.4(ZEB2):c.1218del (p.His407fs)
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rs727504226
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NM_014795.4(ZEB2):c.1257del (p.Gly421fs)
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rs786204801
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|
NM_014795.4(ZEB2):c.1277T>G (p.Leu426Ter)
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rs786204807
|
|
NM_014795.4(ZEB2):c.1416_1420del (p.Arg473fs)
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rs786204814
|
|
NM_014795.4(ZEB2):c.1541_1542insA (p.Val515fs)
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rs1553961695
|
|
NM_014795.4(ZEB2):c.1653del (p.Ser552fs)
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rs786204820
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|
NM_014795.4(ZEB2):c.1687del (p.Leu562_Ile563insTer)
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rs786204819
|
|
NM_014795.4(ZEB2):c.1749C>A (p.Cys583Ter)
|
rs786204808
|
|
NM_014795.4(ZEB2):c.1754del (p.Phe585fs)
|
rs786204809
|
|
NM_014795.4(ZEB2):c.1876G>T (p.Gly626Ter)
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rs727504224
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|
NM_014795.4(ZEB2):c.1884del (p.Phe628fs)
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rs786204811
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NM_014795.4(ZEB2):c.1944del (p.Ile649fs)
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rs786204803
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NM_014795.4(ZEB2):c.1966_1967del (p.Met656fs)
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rs786204818
|
|
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)
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rs137852981
|
|
NM_014795.4(ZEB2):c.20_21insT (p.Asp8fs)
|
rs786204802
|
|
NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs)
|
rs786204821
|
|
NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs)
|
rs786204810
|
|
NM_014795.4(ZEB2):c.227_233del (p.Gln76fs)
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rs786204812
|
|
NM_014795.4(ZEB2):c.2687_2688dup (p.Ala897fs)
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rs786204804
|
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NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs)
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rs398124280
|
|
NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs)
|
rs786204816
|
|
NM_014795.4(ZEB2):c.460del (p.Glu154fs)
|
rs786204817
|
|
NM_014795.4(ZEB2):c.660C>G (p.Tyr220Ter)
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rs111724246
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NM_014795.4(ZEB2):c.703del (p.Glu235fs)
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rs786204806
|
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NM_014795.4(ZEB2):c.73+1del
|
rs786204813
|
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NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)
|
rs587784571
|
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