NM_003159.2(CDKL5):c.-440G>T
|
rs777401314
|
0.00040
|
NM_000330.4(RS1):c.185-3188G>A
|
rs267608665
|
0.00002
|
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr)
|
rs267608611
|
0.00001
|
NM_000330.4(RS1):c.326+1231G>A
|
rs786204995
|
|
NM_001323289.2(CDKL5):c.-189C>T
|
rs786204994
|
|
NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter)
|
rs786204966
|
|
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)
|
rs122460159
|
|
NM_001323289.2(CDKL5):c.1266C>A (p.Asp422Glu)
|
rs762708691
|
|
NM_001323289.2(CDKL5):c.1311dup (p.Ser438fs)
|
rs267608623
|
|
NM_001323289.2(CDKL5):c.1341del (p.Phe447fs)
|
rs786204968
|
|
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter)
|
rs786204969
|
|
NM_001323289.2(CDKL5):c.1417dup (p.Ile473fs)
|
rs786204970
|
|
NM_001323289.2(CDKL5):c.145+2T>C
|
rs267608430
|
|
NM_001323289.2(CDKL5):c.1550del (p.Phe517fs)
|
rs786204972
|
|
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.1708G>T (p.Glu570Ter)
|
rs267608644
|
|
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)
|
rs62653623
|
|
NM_001323289.2(CDKL5):c.183del (p.Met63fs)
|
rs62643608
|
|
NM_001323289.2(CDKL5):c.1854del (p.Asp618fs)
|
rs786204975
|
|
NM_001323289.2(CDKL5):c.1892_1893dup (p.Gly632Ter)
|
rs267608646
|
|
NM_001323289.2(CDKL5):c.2046+1G>A
|
rs786204976
|
|
NM_001323289.2(CDKL5):c.2047-1G>A
|
rs267608650
|
|
NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp)
|
rs587783072
|
|
NM_001323289.2(CDKL5):c.215T>A (p.Ile72Asn)
|
rs62641235
|
|
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs)
|
rs62643614
|
|
NM_001323289.2(CDKL5):c.2376+5G>A
|
rs267608657
|
|
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)
|
rs122460158
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter)
|
rs786204981
|
|
NM_001323289.2(CDKL5):c.283-3_290del
|
rs786204983
|
|
NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter)
|
rs267608453
|
|
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)
|
rs267608468
|
|
NM_001323289.2(CDKL5):c.403+1G>A
|
rs786204984
|
|
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)
|
rs122460157
|
|
NM_001323289.2(CDKL5):c.463+1G>A
|
rs267608479
|
|
NM_001323289.2(CDKL5):c.464-1G>A
|
rs786204986
|
|
NM_001323289.2(CDKL5):c.510_511dup (p.Tyr171fs)
|
rs786204988
|
|
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser)
|
rs61749700
|
|
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys)
|
rs786204989
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001323289.2(CDKL5):c.607G>T (p.Glu203Ter)
|
rs267608505
|
|
NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro)
|
rs786204963
|
|
NM_001323289.2(CDKL5):c.660_664dup (p.Thr222fs)
|
rs786204990
|
|
NM_001323289.2(CDKL5):c.838_847del (p.Asp281fs)
|
rs61750250
|
|
NM_001323289.2(CDKL5):c.942del (p.Lys314fs)
|
rs786204992
|
|
NM_003159.2(CDKL5):c.(?_-253)_-162-27968del
|
|
|
NM_003159.2(CDKL5):c.-162-?_99+?del
|
|
|
NM_003159.2(CDKL5):c.-253_64+?del
|
|
|
NM_003159.2(CDKL5):c.-253_99+?del
|
|
|
NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?)
|
|
|
NM_003159.2(CDKL5):c.404-?_554+?del
|
|
|