NC_000023.10:g.(?_18525053)_(18613568_?)del
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NC_000023.10:g.(?_18525053)_(18622998_?)del
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NC_000023.10:g.(?_18525211)_(18528980_?)dup
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NC_000023.10:g.(?_18582577)_(18646727_?)del
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NC_000023.10:g.(?_18582587)_(18627700_?)dup
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NC_000023.11:g.(?_18506933)_(18510874_?)del
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NC_000023.11:g.(?_18506933)_(18604888_?)del
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NC_000023.11:g.(?_18564457)_(18581970_?)del
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NC_000023.11:g.(?_18595328)_(18595448_?)del
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NC_000023.11:g.(?_18628351)_(18628607_?)del
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NC_000023.11:g.18598477_18598478insTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTACTGAAGTTGG
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NM_001323289.2(CDKL5):c.100-2A>G
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rs267608423
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NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter)
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rs1057518203
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NM_001323289.2(CDKL5):c.100G>T (p.Glu34Ter)
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NM_001323289.2(CDKL5):c.1011dup (p.His338fs)
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rs2147160162
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NM_001323289.2(CDKL5):c.1053_1056dup (p.Leu353fs)
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rs2147160237
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NM_001323289.2(CDKL5):c.1066dup (p.Ala356fs)
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rs2147160283
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NM_001323289.2(CDKL5):c.106_107del (p.Thr35_His36insTer)
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rs2147132223
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NM_001323289.2(CDKL5):c.1166_1169del (p.Gln389fs)
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NM_001323289.2(CDKL5):c.1180_1181dup (p.Ser394fs)
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NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)
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rs122460159
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NM_001323289.2(CDKL5):c.1208del (p.Pro403fs)
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NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter)
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rs1555951991
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NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)
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rs786204967
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NM_001323289.2(CDKL5):c.1287dup (p.Gly430fs)
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NM_001323289.2(CDKL5):c.1321C>T (p.Gln441Ter)
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NM_001323289.2(CDKL5):c.1330_1342del (p.Arg444fs)
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NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter)
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rs786204969
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NM_001323289.2(CDKL5):c.1446del (p.Ser481_Tyr482insTer)
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rs2147160749
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NM_001323289.2(CDKL5):c.1452del (p.Lys485fs)
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NM_001323289.2(CDKL5):c.1485dup (p.Lys496fs)
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rs1926283743
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NM_001323289.2(CDKL5):c.1506dup (p.Glu503Ter)
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NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter)
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rs1555952052
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NM_001323289.2(CDKL5):c.154G>T (p.Glu52Ter)
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rs1925261282
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NM_001323289.2(CDKL5):c.1584dup (p.Ser529fs)
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rs2147160886
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NM_001323289.2(CDKL5):c.163G>T (p.Glu55Ter)
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NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)
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rs267608433
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NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
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rs267608643
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NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
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rs267608395
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NM_001323289.2(CDKL5):c.1686del (p.Arg563fs)
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rs2147161009
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NM_001323289.2(CDKL5):c.173_174insGGCCCGGCGCGGTGGCTCACGCCTGTAATACCAGCACTTATGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACGACTTT (p.Leu58_Arg59insAlaArgArgGlyGlySerArgLeuTer)
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NM_001323289.2(CDKL5):c.1741del (p.His581fs)
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NM_001323289.2(CDKL5):c.1755_1756del (p.Ser586fs)
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rs1926298521
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NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)
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rs62653623
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NM_001323289.2(CDKL5):c.1790del (p.Gly597fs)
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NM_001323289.2(CDKL5):c.1883del (p.Ser628fs)
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rs1926305134
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NM_001323289.2(CDKL5):c.1896del (p.Gln633fs)
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rs2147161299
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NM_001323289.2(CDKL5):c.1927C>T (p.Gln643Ter)
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rs2147161353
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NM_001323289.2(CDKL5):c.194G>C (p.Arg65Pro)
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rs267608436
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NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs)
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rs2147164191
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NM_001323289.2(CDKL5):c.2009_2012dup (p.Thr672fs)
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NM_001323289.2(CDKL5):c.200_201del (p.Leu67fs)
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rs1555949011
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NM_001323289.2(CDKL5):c.2022del (p.Phe675fs)
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rs1060501860
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NM_001323289.2(CDKL5):c.2026del (p.His676fs)
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rs1926450614
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NM_001323289.2(CDKL5):c.2046+1G>A
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rs786204976
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NM_001323289.2(CDKL5):c.2047-1G>A
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rs267608650
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NM_001323289.2(CDKL5):c.2072_2073del (p.His690_Ser691insTer)
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rs2147164676
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NM_001323289.2(CDKL5):c.2091del (p.Glu699fs)
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NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs)
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rs1569220925
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NM_001323289.2(CDKL5):c.2152+1G>T
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NM_001323289.2(CDKL5):c.2152+2T>G
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NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)
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rs62641235
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NM_001323289.2(CDKL5):c.217G>A (p.Val73Met)
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rs2147139605
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NM_001323289.2(CDKL5):c.2197_2204dup (p.Arg735fs)
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rs1926617807
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NM_001323289.2(CDKL5):c.2201_2204dup (p.Arg735delinsSerTer)
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rs2147167570
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NM_001323289.2(CDKL5):c.2227_2228del (p.Ser743fs)
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rs2147167604
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NM_001323289.2(CDKL5):c.2247_2250dup (p.Lys751fs)
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NM_001323289.2(CDKL5):c.2255_2259dup (p.Pro754fs)
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NM_001323289.2(CDKL5):c.2256_2263del (p.Arg752fs)
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rs1926620965
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NM_001323289.2(CDKL5):c.2276+1G>T
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NM_001323289.2(CDKL5):c.2277G>A (p.Trp759Ter)
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NM_001323289.2(CDKL5):c.229_232del (p.Glu77fs)
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rs267608441
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NM_001323289.2(CDKL5):c.2325_2326del (p.Lys776fs)
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rs267608654
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NM_001323289.2(CDKL5):c.2326_2327del (p.Lys776fs)
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rs1602295727
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NM_001323289.2(CDKL5):c.2343del (p.Arg781fs)
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rs62643614
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NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter)
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rs1555954074
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NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter)
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rs1555954074
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NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs)
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rs587783123
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NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter)
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rs1926838663
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NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs)
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rs1602295779
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NM_001323289.2(CDKL5):c.2376+2T>A
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NM_001323289.2(CDKL5):c.2398del (p.Asp800fs)
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NM_001323289.2(CDKL5):c.244del (p.Arg82fs)
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rs1555949041
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NM_001323289.2(CDKL5):c.2463del (p.Trp821fs)
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rs2147175902
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NM_001323289.2(CDKL5):c.2464del (p.Arg822fs)
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NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter)
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rs1602298653
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NM_001323289.2(CDKL5):c.2529dup (p.His844fs)
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NM_001323289.2(CDKL5):c.2579_2582dup (p.Leu862fs)
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rs2147178955
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NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)
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NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)
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rs587783158
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NM_001323289.2(CDKL5):c.2606del (p.Asn869fs)
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rs2147178971
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NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
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rs61753251
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NM_001323289.2(CDKL5):c.2682_2683insGGAA (p.Pro895fs)
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rs1569225454
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NM_001323289.2(CDKL5):c.2682dup (p.Pro895fs)
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rs1569225454
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NM_001323289.2(CDKL5):c.2693_2694del (p.Arg898fs)
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rs2147179071
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NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter)
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rs1602300816
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NM_001323289.2(CDKL5):c.282+1G>A
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rs1569213054
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NM_001323289.2(CDKL5):c.282+1G>T
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rs1569213054
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NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)
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rs1602300837
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NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)
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rs1925418549
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NM_001323289.2(CDKL5):c.308del (p.Met103fs)
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rs2147142599
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NM_001323289.2(CDKL5):c.372_385del (p.His124fs)
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NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)
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rs267608468
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NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)
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rs1922605766
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NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter)
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rs267608472
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NM_001323289.2(CDKL5):c.404-2A>G
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rs587783080
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NM_001323289.2(CDKL5):c.404-6C>G
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NM_001323289.2(CDKL5):c.412C>G (p.Pro138Ala)
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rs1925492354
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NM_001323289.2(CDKL5):c.416A>C (p.Glu139Ala)
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|
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NM_001323289.2(CDKL5):c.424T>G (p.Leu142Val)
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rs1925493252
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NM_001323289.2(CDKL5):c.450del (p.Lys150fs)
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rs2147144049
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NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr)
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rs122460157
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NM_001323289.2(CDKL5):c.463+1G>A
|
rs267608479
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NM_001323289.2(CDKL5):c.463G>A (p.Gly155Ser)
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|
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NM_001323289.2(CDKL5):c.464-2A>C
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rs267608480
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NM_001323289.2(CDKL5):c.464-3C>G
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|
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NM_001323289.2(CDKL5):c.469G>C (p.Ala157Pro)
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rs2147145500
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NM_001323289.2(CDKL5):c.46del (p.Val18fs)
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|
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NM_001323289.2(CDKL5):c.503dup (p.Tyr168Ter)
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|
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NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs)
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rs786204987
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NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter)
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rs1555950066
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NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)
|
rs267608490
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|
NM_001323289.2(CDKL5):c.513C>G (p.Tyr171Ter)
|
rs267608490
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NM_001323289.2(CDKL5):c.515T>G (p.Val172Gly)
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|
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NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter)
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rs2147145565
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NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys)
|
rs786204989
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|
NM_001323289.2(CDKL5):c.532C>G (p.Arg178Gly)
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rs267608493
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NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
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NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)
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rs267606715
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NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro)
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rs267606715
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NM_001323289.2(CDKL5):c.533G>T (p.Arg178Leu)
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|
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NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp)
|
rs1602230515
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NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs)
|
rs587783111
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|
NM_001323289.2(CDKL5):c.554+4A>G
|
rs2147145614
|
|
NM_001323289.2(CDKL5):c.554+5G>A
|
rs1925577525
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|
NM_001323289.2(CDKL5):c.578A>C (p.Asp193Ala)
|
rs267608500
|
|
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly)
|
rs1569215594
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NM_001323289.2(CDKL5):c.585G>A (p.Trp195Ter)
|
rs2147147996
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|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)
|
rs267608418
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|
NM_001323289.2(CDKL5):c.593G>A (p.Gly198Asp)
|
rs1925696959
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|
NM_001323289.2(CDKL5):c.604G>T (p.Gly202Trp)
|
rs2147148032
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|
NM_001323289.2(CDKL5):c.609G>C (p.Glu203Asp)
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|
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NM_001323289.2(CDKL5):c.614_617dup (p.Asp206fs)
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rs1555950465
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NM_001323289.2(CDKL5):c.61G>A (p.Glu21Lys)
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|
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NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu)
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rs1569215629
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|
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro)
|
rs267608511
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|
NM_001323289.2(CDKL5):c.692del (p.Pro231fs)
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|
|
NM_001323289.2(CDKL5):c.712_713dup (p.Tyr239fs)
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|
|
NM_001323289.2(CDKL5):c.725del (p.Pro242fs)
|
rs1555950494
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NM_001323289.2(CDKL5):c.744+1G>A
|
rs1925705674
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|
NM_001323289.2(CDKL5):c.749del (p.Pro250fs)
|
rs2147153531
|
|
NM_001323289.2(CDKL5):c.74G>T (p.Gly25Val)
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|
|
NM_001323289.2(CDKL5):c.781dup (p.Arg261fs)
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|
|
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter)
|
rs1555951146
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NM_001323289.2(CDKL5):c.812T>C (p.Leu271Pro)
|
|
|
NM_001323289.2(CDKL5):c.830T>C (p.Leu277Ser)
|
rs2147156094
|
|
NM_001323289.2(CDKL5):c.844_856delinsA (p.Pro282_Tyr286delinsAsn)
|
rs2147156107
|
|
NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys)
|
rs1064795672
|
|
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter)
|
rs1569218019
|
|
NM_001323289.2(CDKL5):c.877_881dup (p.His294fs)
|
rs1926080344
|
|
NM_001323289.2(CDKL5):c.878dup (p.Asn293fs)
|
rs1926080187
|
|
NM_001323289.2(CDKL5):c.934A>T (p.Lys312Ter)
|
|
|
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)
|
|
|
NM_001323289.2(CDKL5):c.993_994dup (p.Ser332fs)
|
rs2147160115
|
|