NM_001323289.2(CDKL5):c.283-13A>G
|
rs587783404
|
0.00011
|
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)
|
rs55803460
|
0.00010
|
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala)
|
rs587783400
|
0.00001
|
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg)
|
rs398123694
|
0.00001
|
NM_000330.4(RS1):c.185-3100G>T
|
rs587783403
|
|
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg)
|
rs267608429
|
|
NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter)
|
rs1555952015
|
|
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs)
|
rs587783398
|
|
NM_001323289.2(CDKL5):c.146-1G>A
|
rs587783399
|
|
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.175C>T (p.Arg59Ter)
|
rs62653623
|
|
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs)
|
rs587783401
|
|
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter)
|
rs267608647
|
|
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)
|
rs267608437
|
|
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)
|
rs267608659
|
|
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val)
|
rs587783402
|
|
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs)
|
rs267608662
|
|
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.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)
|
rs267608490
|
|
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg)
|
rs587783084
|
|
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs)
|
rs267608497
|
|
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.622C>T (p.Gln208Ter)
|
rs587783405
|
|
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)
|
rs587783406
|
|
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser)
|
rs267608532
|
|
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=)
|
rs587783407
|
|
NM_003159.2(CDKL5):c.65dupG
|
rs267608420
|
|