|
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp)
|
rs121917748
|
0.00002
|
|
NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser)
|
rs879255631
|
0.00001
|
|
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter)
|
rs786205162
|
0.00001
|
|
NC_000020.10:g.(8094049_8094072)_(8580261_8580284)del
|
|
|
|
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile)
|
rs672601377
|
|
|
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly)
|
rs672601376
|
|
|
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)
|
rs121917751
|
|
|
NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile)
|
rs121917754
|
|
|
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
|
|
|
|
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe)
|
rs121917749
|
|
|
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val)
|
rs121917750
|
|
|
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)
|
rs121917752
|
|
|
NM_001040142.2(SCN2A):c.754A>G (p.Met252Val)
|
rs387906687
|
|
|
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)
|
rs1858669268
|
|
|
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del)
|
rs398122865
|
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
|
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)
|
rs1859859572
|
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
|
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
|
rs796053335
|
|
|
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)
|
rs122460159
|
|
|
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)
|
rs267608433
|
|
|
NM_001323289.2(CDKL5):c.183del (p.Met63fs)
|
rs62643608
|
|
|
NM_001323289.2(CDKL5):c.2047-1G>A
|
rs267608650
|
|
|
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)
|
rs62641235
|
|
|
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.404-1G>T
|
rs267608474
|
|
|
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)
|
rs122460157
|
|
|
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser)
|
rs61749700
|
|
|
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro)
|
rs267606715
|
|
|
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile)
|
rs267606713
|
|
|
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr)
|
rs267606714
|
|
|
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs)
|
rs267608546
|
|
|
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)
|
rs879255652
|
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
|
NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter)
|
rs201204481
|
|
|
NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro)
|
rs1557563410
|
|
|
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu)
|
rs104894743
|
|
|
NM_139058.3(ARX):c.1449-816_*460del
|
|
|
|
NM_139058.3(ARX):c.1465del (p.Ala489fs)
|
rs587783191
|
|
|
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln)
|
rs387906715
|
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)
|
rs1365611175
|
|
|
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)
|
rs387906493
|
|
|
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup)
|
rs1556056125
|
|
|
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter)
|
rs398122854
|
|
|
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr)
|
|
|
|
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro)
|
|
|
|
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser)
|
|
|
|
NM_139318.5(KCNH5):c.2020-4A>G
|
|
|
|
NM_139318.5(KCNH5):c.980G>A (p.Arg327His)
|
rs587777164
|
|
|
NM_139318.5(KCNH5):c.998G>A (p.Arg333His)
|
rs1383017734
|
|
|
NM_145239.3(PRRT2):c.291del (p.Asn98fs)
|
rs730882073
|
|
|
NM_145239.3(PRRT2):c.629del (p.Pro210fs)
|
rs730882067
|
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
|
NM_145239.3(PRRT2):c.650del (p.Arg217fs)
|
rs730882124
|
|
|
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)
|
rs397514579
|
|
|
NM_145239.3(PRRT2):c.879+5G>A
|
rs1596893185
|
|
|
NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter)
|
rs786205160
|
|
|
NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter)
|
rs786205161
|
|
|
NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser)
|
rs786205163
|
|
|
NM_173354.5(SIK1):c.859C>A (p.Pro287Thr)
|
rs786205159
|
|