NC_000023.10:g.(?_18525053)_(18613568_?)del
|
|
|
NC_000023.10:g.(?_18525053)_(18622998_?)del
|
|
|
NC_000023.10:g.(?_18525211)_(18528980_?)dup
|
|
|
NC_000023.10:g.(?_18582577)_(18646727_?)del
|
|
|
NC_000023.10:g.(?_18582587)_(18627700_?)dup
|
|
|
NC_000023.11:g.(?_18506933)_(18510874_?)del
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|
|
NC_000023.11:g.(?_18506933)_(18604888_?)del
|
|
|
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
|
|
|
NC_000023.11:g.18598477_18598478insTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTACTGAAGTTGG
|
|
|
NM_001323289.2(CDKL5):c.-162-2A>G
|
rs786204973
|
|
NM_001323289.2(CDKL5):c.100-2A>G
|
rs267608423
|
|
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter)
|
rs1057518203
|
|
NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs)
|
rs786204964
|
|
NM_001323289.2(CDKL5):c.100G>T (p.Glu34Ter)
|
|
|
NM_001323289.2(CDKL5):c.1011dup (p.His338fs)
|
rs2147160162
|
|
NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter)
|
rs267608561
|
|
NM_001323289.2(CDKL5):c.1053_1056dup (p.Leu353fs)
|
rs2147160237
|
|
NM_001323289.2(CDKL5):c.1066dup (p.Ala356fs)
|
rs2147160283
|
|
NM_001323289.2(CDKL5):c.106_107del (p.Thr35_His36insTer)
|
rs2147132223
|
|
NM_001323289.2(CDKL5):c.1079del (p.Leu360fs)
|
rs267608565
|
|
NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs)
|
rs267608566
|
|
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs)
|
rs1926261579
|
|
NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=)
|
rs1602286005
|
|
NM_001323289.2(CDKL5):c.1103dup (p.Asn368fs)
|
rs1926262196
|
|
NM_001323289.2(CDKL5):c.1166_1169del (p.Gln389fs)
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|
|
NM_001323289.2(CDKL5):c.1180_1181dup (p.Ser394fs)
|
|
|
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)
|
rs122460159
|
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NM_001323289.2(CDKL5):c.1208del (p.Pro403fs)
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|
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NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter)
|
rs267608618
|
|
NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter)
|
rs1555951991
|
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NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)
|
rs786204967
|
|
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg)
|
rs267608429
|
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NM_001323289.2(CDKL5):c.1287dup (p.Gly430fs)
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|
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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.1345G>T (p.Glu449Ter)
|
rs1555952015
|
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NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs)
|
rs587783398
|
|
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter)
|
rs786204969
|
|
NM_001323289.2(CDKL5):c.1419del (p.Gln475fs)
|
rs2147160726
|
|
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs)
|
rs1602286391
|
|
NM_001323289.2(CDKL5):c.1446del (p.Ser481_Tyr482insTer)
|
rs2147160749
|
|
NM_001323289.2(CDKL5):c.145+1G>A
|
rs2147132274
|
|
NM_001323289.2(CDKL5):c.1452del (p.Lys485fs)
|
|
|
NM_001323289.2(CDKL5):c.146-1G>A
|
rs587783399
|
|
NM_001323289.2(CDKL5):c.146-1G>T
|
|
|
NM_001323289.2(CDKL5):c.1485dup (p.Lys496fs)
|
rs1926283743
|
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NM_001323289.2(CDKL5):c.1486A>T (p.Lys496Ter)
|
rs1926283887
|
|
NM_001323289.2(CDKL5):c.1506dup (p.Glu503Ter)
|
|
|
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter)
|
rs1555952052
|
|
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter)
|
rs751789670
|
|
NM_001323289.2(CDKL5):c.154G>T (p.Glu52Ter)
|
rs1925261282
|
|
NM_001323289.2(CDKL5):c.1584dup (p.Ser529fs)
|
rs2147160886
|
|
NM_001323289.2(CDKL5):c.163G>T (p.Glu55Ter)
|
|
|
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)
|
rs267608433
|
|
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
|
rs267608643
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs)
|
rs1555952101
|
|
NM_001323289.2(CDKL5):c.1686del (p.Arg563fs)
|
rs2147161009
|
|
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter)
|
rs875989950
|
|
NM_001323289.2(CDKL5):c.173_174insGGCCCGGCGCGGTGGCTCACGCCTGTAATACCAGCACTTATGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACGACTTT (p.Leu58_Arg59insAlaArgArgGlyGlySerArgLeuTer)
|
|
|
NM_001323289.2(CDKL5):c.1741del (p.His581fs)
|
|
|
NM_001323289.2(CDKL5):c.1742dup (p.His581fs)
|
rs1602286792
|
|
NM_001323289.2(CDKL5):c.1755_1756del (p.Ser586fs)
|
rs1926298521
|
|
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs)
|
rs1926298368
|
|
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)
|
rs62653623
|
|
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs)
|
rs786204974
|
|
NM_001323289.2(CDKL5):c.1790del (p.Gly597fs)
|
|
|
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs)
|
rs587783401
|
|
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter)
|
rs1926301954
|
|
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter)
|
rs1602286899
|
|
NM_001323289.2(CDKL5):c.183del (p.Met63fs)
|
rs62643608
|
|
NM_001323289.2(CDKL5):c.1852_1853insT (p.Asp618fs)
|
rs1926303951
|
|
NM_001323289.2(CDKL5):c.1883del (p.Ser628fs)
|
rs1926305134
|
|
NM_001323289.2(CDKL5):c.1896del (p.Gln633fs)
|
rs2147161299
|
|
NM_001323289.2(CDKL5):c.1927C>T (p.Gln643Ter)
|
rs2147161353
|
|
NM_001323289.2(CDKL5):c.194G>C (p.Arg65Pro)
|
rs267608436
|
|
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter)
|
rs267608647
|
|
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs)
|
rs2147164191
|
|
NM_001323289.2(CDKL5):c.1994_1997del (p.Lys665fs)
|
|
|
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)
|
rs267608437
|
|
NM_001323289.2(CDKL5):c.2009_2012dup (p.Thr672fs)
|
|
|
NM_001323289.2(CDKL5):c.200_201del (p.Leu67fs)
|
rs1555949011
|
|
NM_001323289.2(CDKL5):c.2016del (p.Ser673fs)
|
rs267608648
|
|
NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs)
|
rs267608648
|
|
NM_001323289.2(CDKL5):c.2022del (p.Phe675fs)
|
rs1060501860
|
|
NM_001323289.2(CDKL5):c.2026del (p.His676fs)
|
rs1926450614
|
|
NM_001323289.2(CDKL5):c.2046+1G>A
|
rs786204976
|
|
NM_001323289.2(CDKL5):c.2047-1G>A
|
rs267608650
|
|
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs)
|
rs267608651
|
|
NM_001323289.2(CDKL5):c.2072_2073del (p.His690_Ser691insTer)
|
rs2147164676
|
|
NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs)
|
rs786204977
|
|
NM_001323289.2(CDKL5):c.2091del (p.Glu699fs)
|
|
|
NM_001323289.2(CDKL5):c.2105_2106del (p.His702fs)
|
rs786204978
|
|
NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs)
|
rs1569220925
|
|
NM_001323289.2(CDKL5):c.2152+1G>T
|
|
|
NM_001323289.2(CDKL5):c.2152+2T>G
|
|
|
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)
|
rs62641235
|
|
NM_001323289.2(CDKL5):c.217G>A (p.Val73Met)
|
rs2147139605
|
|
NM_001323289.2(CDKL5):c.2182del (p.His728fs)
|
rs1926616715
|
|
NM_001323289.2(CDKL5):c.2197_2204dup (p.Arg735fs)
|
rs1926617807
|
|
NM_001323289.2(CDKL5):c.2201_2204dup (p.Arg735delinsSerTer)
|
rs2147167570
|
|
NM_001323289.2(CDKL5):c.2227_2228del (p.Ser743fs)
|
rs2147167604
|
|
NM_001323289.2(CDKL5):c.2247_2250dup (p.Lys751fs)
|
|
|
NM_001323289.2(CDKL5):c.2255_2259dup (p.Pro754fs)
|
|
|
NM_001323289.2(CDKL5):c.2256_2263del (p.Arg752fs)
|
rs1926620965
|
|
NM_001323289.2(CDKL5):c.2276+1G>A
|
rs1602292181
|
|
NM_001323289.2(CDKL5):c.2276+1G>T
|
|
|
NM_001323289.2(CDKL5):c.2277-2A>G
|
rs786204979
|
|
NM_001323289.2(CDKL5):c.2277G>A (p.Trp759Ter)
|
|
|
NM_001323289.2(CDKL5):c.229_232del (p.Glu77fs)
|
rs267608441
|
|
NM_001323289.2(CDKL5):c.2325_2326del (p.Lys776fs)
|
rs267608654
|
|
NM_001323289.2(CDKL5):c.2326_2327del (p.Lys776fs)
|
rs1602295727
|
|
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs)
|
rs62643614
|
|
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter)
|
rs1555954074
|
|
NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter)
|
rs1555954074
|
|
NM_001323289.2(CDKL5):c.2355_2358del (p.Lys786fs)
|
rs1926837956
|
|
NM_001323289.2(CDKL5):c.2359_2363del (p.Lys787fs)
|
rs1555954078
|
|
NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs)
|
rs587783123
|
|
NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs)
|
rs267608655
|
|
NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter)
|
rs1926838663
|
|
NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs)
|
rs1602295779
|
|
NM_001323289.2(CDKL5):c.2376+1G>A
|
rs267608656
|
|
NM_001323289.2(CDKL5):c.2376+1G>C
|
rs267608656
|
|
NM_001323289.2(CDKL5):c.2376+2T>A
|
|
|
NM_001323289.2(CDKL5):c.2398del (p.Asp800fs)
|
|
|
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)
|
rs267608659
|
|
NM_001323289.2(CDKL5):c.244del (p.Arg82fs)
|
rs1555949041
|
|
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs)
|
rs1555954737
|
|
NM_001323289.2(CDKL5):c.2463del (p.Trp821fs)
|
rs2147175902
|
|
NM_001323289.2(CDKL5):c.2464del (p.Arg822fs)
|
|
|
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter)
|
rs1602298653
|
|
NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter)
|
rs17857094
|
|
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)
|
rs122460158
|
|
NM_001323289.2(CDKL5):c.2504del (p.Pro835fs)
|
rs267608660
|
|
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs)
|
rs267608661
|
|
NM_001323289.2(CDKL5):c.2529dup (p.His844fs)
|
|
|
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs)
|
rs267608662
|
|
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter)
|
rs1927139054
|
|
NM_001323289.2(CDKL5):c.2579_2582dup (p.Leu862fs)
|
rs2147178955
|
|
NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)
|
|
|
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter)
|
rs267608663
|
|
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)
|
rs587783158
|
|
NM_001323289.2(CDKL5):c.2606del (p.Asn869fs)
|
rs2147178971
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.2636del (p.Leu879fs)
|
rs2147179000
|
|
NM_001323289.2(CDKL5):c.2641C>T (p.Gln881Ter)
|
rs1057519541
|
|
NM_001323289.2(CDKL5):c.2673_2682del (p.Gln891fs)
|
rs1927142990
|
|
NM_001323289.2(CDKL5):c.2682_2683insGGAA (p.Pro895fs)
|
rs1569225454
|
|
NM_001323289.2(CDKL5):c.2682dup (p.Pro895fs)
|
rs1569225454
|
|
NM_001323289.2(CDKL5):c.2693_2694del (p.Arg898fs)
|
rs2147179071
|
|
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter)
|
rs863225289
|
|
NM_001323289.2(CDKL5):c.275_276insAA (p.Glu93fs)
|
rs786204982
|
|
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter)
|
rs1602300816
|
|
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter)
|
rs2147139684
|
|
NM_001323289.2(CDKL5):c.282+1G>A
|
rs1569213054
|
|
NM_001323289.2(CDKL5):c.282+1G>T
|
rs1569213054
|
|
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)
|
rs1602300837
|
|
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)
|
rs1555955290
|
|
NM_001323289.2(CDKL5):c.283-3_290del
|
rs786204983
|
|
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)
|
rs1555955296
|
|
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)
|
rs1925418549
|
|
NM_001323289.2(CDKL5):c.308del (p.Met103fs)
|
rs2147142599
|
|
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs)
|
rs2147142645
|
|
NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs)
|
rs1925420814
|
|
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg)
|
rs863225290
|
|
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs)
|
rs1925421198
|
|
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr)
|
rs1602271692
|
|
NM_001323289.2(CDKL5):c.372_385del (p.His124fs)
|
|
|
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)
|
rs267608468
|
|
NM_001323289.2(CDKL5):c.386del (p.Asn129fs)
|
rs1602271718
|
|
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)
|
rs1922605766
|
|
NM_001323289.2(CDKL5):c.39del (p.Phe13fs)
|
rs267608415
|
|
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter)
|
rs267608472
|
|
NM_001323289.2(CDKL5):c.401G>C (p.Arg134Pro)
|
|
|
NM_001323289.2(CDKL5):c.403+1G>A
|
rs786204984
|
|
NM_001323289.2(CDKL5):c.403+540_554+61del
|
|
|
NM_001323289.2(CDKL5):c.404-1G>A
|
rs267608474
|
|
NM_001323289.2(CDKL5):c.404-1G>T
|
rs267608474
|
|
NM_001323289.2(CDKL5):c.404-2A>G
|
rs587783080
|
|
NM_001323289.2(CDKL5):c.404-6C>G
|
|
|
NM_001323289.2(CDKL5):c.412C>G (p.Pro138Ala)
|
rs1925492354
|
|
NM_001323289.2(CDKL5):c.416A>C (p.Glu139Ala)
|
|
|
NM_001323289.2(CDKL5):c.424T>G (p.Leu142Val)
|
rs1925493252
|
|
NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter)
|
rs267608477
|
|
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter)
|
rs267608477
|
|
NM_001323289.2(CDKL5):c.450del (p.Lys150fs)
|
rs2147144049
|
|
NM_001323289.2(CDKL5):c.453del (p.Cys152fs)
|
rs1555949763
|
|
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr)
|
rs122460157
|
|
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)
|
rs122460157
|
|
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
|
|
|
NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly)
|
rs786204985
|
|
NM_001323289.2(CDKL5):c.463+1G>A
|
rs267608479
|
|
NM_001323289.2(CDKL5):c.463+1G>T
|
rs267608479
|
|
NM_001323289.2(CDKL5):c.463+5G>A
|
rs886042303
|
|
NM_001323289.2(CDKL5):c.463G>A (p.Gly155Ser)
|
|
|
NM_001323289.2(CDKL5):c.464-2A>C
|
rs267608480
|
|
NM_001323289.2(CDKL5):c.464-2A>G
|
rs267608480
|
|
NM_001323289.2(CDKL5):c.464-3C>G
|
|
|
NM_001323289.2(CDKL5):c.469G>C (p.Ala157Pro)
|
rs2147145500
|
|
NM_001323289.2(CDKL5):c.46del (p.Val18fs)
|
|
|
NM_001323289.2(CDKL5):c.495dup (p.Ala166fs)
|
rs1925573011
|
|
NM_001323289.2(CDKL5):c.503dup (p.Tyr168Ter)
|
|
|
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs)
|
rs786204987
|
|
NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter)
|
rs1555950066
|
|
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)
|
rs267608490
|
|
NM_001323289.2(CDKL5):c.513C>G (p.Tyr171Ter)
|
rs267608490
|
|
NM_001323289.2(CDKL5):c.515T>G (p.Val172Gly)
|
|
|
NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly)
|
rs1925574557
|
|
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser)
|
rs61749700
|
|
NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly)
|
rs587783084
|
|
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter)
|
rs2147145565
|
|
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys)
|
rs786204989
|
|
NM_001323289.2(CDKL5):c.532C>G (p.Arg178Gly)
|
rs267608493
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)
|
rs267606715
|
|
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro)
|
rs267606715
|
|
NM_001323289.2(CDKL5):c.533G>T (p.Arg178Leu)
|
|
|
NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu)
|
rs61749704
|
|
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp)
|
rs1602230515
|
|
NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs)
|
rs587783111
|
|
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs)
|
rs267608497
|
|
NM_001323289.2(CDKL5):c.554+1G>A
|
rs1555950083
|
|
NM_001323289.2(CDKL5):c.554+4A>G
|
rs2147145614
|
|
NM_001323289.2(CDKL5):c.554+5G>A
|
rs1925577525
|
|
NM_001323289.2(CDKL5):c.578A>C (p.Asp193Ala)
|
rs267608500
|
|
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly)
|
rs267608500
|
|
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly)
|
rs1569215594
|
|
NM_001323289.2(CDKL5):c.585G>A (p.Trp195Ter)
|
rs2147147996
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)
|
rs267608418
|
|
NM_001323289.2(CDKL5):c.593G>A (p.Gly198Asp)
|
rs1925696959
|
|
NM_001323289.2(CDKL5):c.604G>T (p.Gly202Trp)
|
rs2147148032
|
|
NM_001323289.2(CDKL5):c.609G>C (p.Glu203Asp)
|
|
|
NM_001323289.2(CDKL5):c.614_617dup (p.Asp206fs)
|
rs1555950465
|
|
NM_001323289.2(CDKL5):c.61G>A (p.Glu21Lys)
|
|
|
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val)
|
rs2147148055
|
|
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)
|
rs587783405
|
|
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)
|
rs587783406
|
|
NM_001323289.2(CDKL5):c.630_631del (p.Leu210fs)
|
|
|
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu)
|
rs1569215629
|
|
NM_001323289.2(CDKL5):c.64+1G>C
|
rs1922607301
|
|
NM_001323289.2(CDKL5):c.64+2del
|
rs267608419
|
|
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro)
|
rs267608511
|
|
NM_001323289.2(CDKL5):c.665del (p.Thr222fs)
|
|
|
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter)
|
rs1925701271
|
|
NM_001323289.2(CDKL5):c.692del (p.Pro231fs)
|
|
|
NM_001323289.2(CDKL5):c.712_713dup (p.Tyr239fs)
|
|
|
NM_001323289.2(CDKL5):c.725del (p.Pro242fs)
|
rs1555950494
|
|
NM_001323289.2(CDKL5):c.744+1G>A
|
rs1925705674
|
|
NM_001323289.2(CDKL5):c.745-1G>T
|
rs2147153521
|
|
NM_001323289.2(CDKL5):c.747dup (p.Pro250fs)
|
rs875989880
|
|
NM_001323289.2(CDKL5):c.749del (p.Pro250fs)
|
rs2147153531
|
|
NM_001323289.2(CDKL5):c.74G>T (p.Gly25Val)
|
|
|
NM_001323289.2(CDKL5):c.751delinsTC (p.Ala251fs)
|
rs1555951141
|
|
NM_001323289.2(CDKL5):c.781dup (p.Arg261fs)
|
|
|
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter)
|
rs1555951146
|
|
NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs)
|
rs267608528
|
|
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.863C>T (p.Thr288Ile)
|
rs267606713
|
|
NM_001323289.2(CDKL5):c.867dup (p.Gln290fs)
|
rs267608537
|
|
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter)
|
rs1569218019
|
|
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr)
|
rs267606714
|
|
NM_001323289.2(CDKL5):c.877_881dup (p.His294fs)
|
rs1926080344
|
|
NM_001323289.2(CDKL5):c.878dup (p.Asn293fs)
|
rs1926080187
|
|
NM_001323289.2(CDKL5):c.884del (p.Pro295fs)
|
rs267608542
|
|
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs)
|
rs1602282699
|
|
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs)
|
rs267608546
|
|
NM_001323289.2(CDKL5):c.906del (p.Leu303fs)
|
rs2147156191
|
|
NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly)
|
rs786204991
|
|
NM_001323289.2(CDKL5):c.934A>T (p.Lys312Ter)
|
|
|
NM_001323289.2(CDKL5):c.964dup (p.Thr322fs)
|
rs267608552
|
|
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)
|
|
|
NM_001323289.2(CDKL5):c.978-1G>A
|
rs2147160087
|
|
NM_001323289.2(CDKL5):c.978-2A>G
|
rs267608553
|
|
NM_001323289.2(CDKL5):c.99+1G>T
|
rs267608421
|
|
NM_001323289.2(CDKL5):c.99+5G>A
|
rs587783131
|
|
NM_001323289.2(CDKL5):c.993_994dup (p.Ser332fs)
|
rs2147160115
|
|
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
|
|
|
NM_003159.2(CDKL5):c.-162-?_145+?del
|
|
|
NM_003159.2(CDKL5):c.-162-?_64+?del
|
|
|
NM_003159.2(CDKL5):c.-162-?_99+?del
|
|
|
NM_003159.2(CDKL5):c.100-?_145+?del
|
|
|
NM_003159.2(CDKL5):c.65-?_99+?del
|
|
|
NM_003159.2(CDKL5):c.65dupG
|
rs267608420
|
|
NM_003159.2(CDKL5):c.745-?_825+?del
|
|
|