|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
|
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys)
|
rs779576853
|
0.00001
|
|
NM_000100.4(CSTB):c.76C>T (p.Gln26Ter)
|
|
|
|
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
|
|
|
|
NM_001032221.6(STXBP1):c.103_119del (p.Gln35fs)
|
|
|
|
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)
|
rs121918321
|
|
|
NM_001032221.6(STXBP1):c.1392del (p.Lys465fs)
|
rs2131521957
|
|
|
NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)
|
|
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
|
NM_001111125.3(IQSEC2):c.4264_4265del (p.Gln1422fs)
|
rs2147000956
|
|
|
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
|
|
|
|
NM_001127222.2(CACNA1A):c.5238dup (p.Leu1747fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
|
NM_001127222.2(CACNA1A):c.781del (p.Thr261fs)
|
rs2059189334
|
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
|
NM_001134407.3(GRIN2A):c.3087T>A (p.Asn1029Lys)
|
|
|
|
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)
|
rs121918784
|
|
|
NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His)
|
rs796052988
|
|
|
NM_001165963.4(SCN1A):c.3650A>G (p.His1217Arg)
|
rs796052996
|
|
|
NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn)
|
rs1698961617
|
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
|
NM_001323289.2(CDKL5):c.655C>T (p.Gln219Ter)
|
|
|
|
NM_001330260.2(SCN8A):c.2621C>T (p.Ala874Val)
|
|
|
|
NM_001371727.1(GABRB2):c.754C>T (p.Pro252Ser)
|
rs869312861
|
|
|
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp)
|
rs1554093891
|
|
|
NM_001694.4(ATP6V0C):c.283G>A (p.Ala95Thr)
|
|
|
|
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met)
|
rs2082362479
|
|
|
NM_002641.4(PIGA):c.242G>A (p.Arg81His)
|
rs1922162801
|
|
|
NM_003042.4(SLC6A1):c.1078+1G>C
|
|
|
|
NM_005097.4(LGI1):c.1442del (p.Pro481fs)
|
rs2134026964
|
|
|
NM_006516.4(SLC2A1):c.16A>T (p.Lys6Ter)
|
|
|
|
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)
|
rs2124478725
|
|
|
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)
|
rs1643481875
|
|
|
NM_006922.4(SCN3A):c.1945dup (p.Asp649fs)
|
|
|
|
NM_007198.4(PLPBP):c.389G>A (p.Trp130Ter)
|
|
|
|
NM_007198.4(PLPBP):c.695C>T (p.Ala232Val)
|
|
|
|
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)
|
rs199470477
|
|
|
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
|
|
|
|
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
|
|
|
|
NM_052874.5(STX1B):c.682A>G (p.Met228Val)
|
|
|
|
NM_139137.4(KCNC2):c.1163T>C (p.Phe388Ser)
|
|
|
|
NM_152296.5(ATP1A3):c.235del (p.Trp79fs)
|
rs2145983235
|
|
|
NM_172107.4(KCNQ2):c.2156del (p.Gln719fs)
|
|
|
|
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)
|
rs118192199
|
|
|
NM_172107.4(KCNQ2):c.816+2T>C
|
|
|