NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe)
|
rs267608547
|
0.00001
|
NM_001323289.2(CDKL5):c.-162-2A>G
|
rs786204973
|
|
NM_001323289.2(CDKL5):c.100-2A>G
|
rs267608423
|
|
NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs)
|
rs786204964
|
|
NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter)
|
rs267608561
|
|
NM_001323289.2(CDKL5):c.1079del (p.Leu360fs)
|
rs267608565
|
|
NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs)
|
rs267608566
|
|
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)
|
rs122460159
|
|
NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter)
|
rs267608618
|
|
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro)
|
rs267608631
|
|
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.175C>T (p.Arg59Ter)
|
rs62653623
|
|
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs)
|
rs786204974
|
|
NM_001323289.2(CDKL5):c.183del (p.Met63fs)
|
rs62643608
|
|
NM_001323289.2(CDKL5):c.191T>C (p.Leu64Pro)
|
rs267608435
|
|
NM_001323289.2(CDKL5):c.2016del (p.Ser673fs)
|
rs267608648
|
|
NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs)
|
rs267608648
|
|
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs)
|
rs267608651
|
|
NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs)
|
rs786204977
|
|
NM_001323289.2(CDKL5):c.2105_2106del (p.His702fs)
|
rs786204978
|
|
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met)
|
rs267608653
|
|
NM_001323289.2(CDKL5):c.2277-2A>G
|
rs786204979
|
|
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.2363_2367del (p.Lys788fs)
|
rs267608655
|
|
NM_001323289.2(CDKL5):c.2376+1G>A
|
rs267608656
|
|
NM_001323289.2(CDKL5):c.2376+1G>C
|
rs267608656
|
|
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)
|
rs267608659
|
|
NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter)
|
rs17857094
|
|
NM_001323289.2(CDKL5):c.2504del (p.Pro835fs)
|
rs267608660
|
|
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs)
|
rs267608661
|
|
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter)
|
rs267608663
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.275_276insAA (p.Glu93fs)
|
rs786204982
|
|
NM_001323289.2(CDKL5):c.283-3_290del
|
rs786204983
|
|
NM_001323289.2(CDKL5):c.39del (p.Phe13fs)
|
rs267608415
|
|
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter)
|
rs267608472
|
|
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.425T>A (p.Leu142Ter)
|
rs267608477
|
|
NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly)
|
rs786204985
|
|
NM_001323289.2(CDKL5):c.464-2A>G
|
rs267608480
|
|
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro)
|
rs757402424
|
|
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs)
|
rs786204987
|
|
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)
|
rs267608490
|
|
NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly)
|
rs587783084
|
|
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.539C>T (p.Pro180Leu)
|
rs61749704
|
|
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly)
|
rs267608500
|
|
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.62A>G (p.Glu21Gly)
|
rs587783406
|
|
NM_001323289.2(CDKL5):c.64+2del
|
rs267608419
|
|
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro)
|
rs267608511
|
|
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr)
|
rs869312851
|
|
NM_001323289.2(CDKL5):c.680T>G (p.Leu227Arg)
|
rs267608515
|
|
NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs)
|
rs267608528
|
|
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile)
|
rs267606713
|
|
NM_001323289.2(CDKL5):c.867dup (p.Gln290fs)
|
rs267608537
|
|
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr)
|
rs267606714
|
|
NM_001323289.2(CDKL5):c.884del (p.Pro295fs)
|
rs267608542
|
|
NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly)
|
rs786204991
|
|
NM_001323289.2(CDKL5):c.964dup (p.Thr322fs)
|
rs267608552
|
|
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_003159.2(CDKL5):c.(?_-253)_(*85_?)del
|
|
|
NM_003159.2(CDKL5):c.-162-?_*85del
|
|
|
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.-253_-163+?del
|
|
|
NM_003159.2(CDKL5):c.-253_2276+?del
|
|
|
NM_003159.2(CDKL5):c.-253_825+?del
|
|
|
NM_003159.2(CDKL5):c.-253_977+?del
|
|
|
NM_003159.2(CDKL5):c.-253_99+?del
|
|
|
NM_003159.2(CDKL5):c.100-?_145+?del
|
|
|
NM_003159.2(CDKL5):c.146-?_*85del
|
|
|
NM_003159.2(CDKL5):c.2377-?_*85del
|
|
|
NM_003159.2(CDKL5):c.2497-?_*85del
|
|
|
NM_003159.2(CDKL5):c.65-?_99+?del
|
|
|
NM_003159.2(CDKL5):c.745-?_825+?del
|
|
|