|
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg)
|
rs749994791
|
0.00002
|
|
GRCh37/hg19 16q23.1(chr16:78198080-78198186)
|
|
|
|
NM_000807.4(GABRA2):c.875C>T (p.Thr292Ile)
|
rs1577800481
|
|
|
NM_000817.3(GAD1):c.1370G>A (p.Arg457His)
|
|
|
|
NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)
|
|
|
|
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro)
|
rs1588306948
|
|
|
NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp)
|
rs971284726
|
|
|
NM_001040142.2(SCN2A):c.4439A>G (p.Lys1480Arg)
|
rs1574731380
|
|
|
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter)
|
rs746975723
|
|
|
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)
|
rs1554991378
|
|
|
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr)
|
rs1555757432
|
|
|
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)
|
rs1376907797
|
|
|
NM_001127644.2(GABRA1):c.647A>T (p.Asn216Ile)
|
|
|
|
NM_001134407.3(GRIN2A):c.1678ATG[1] (p.Met561del)
|
rs1057519248
|
|
|
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala)
|
rs1555492758
|
|
|
NM_001165963.4(SCN1A):c.4476+5G>T
|
rs1553522266
|
|
|
NM_001182.5(ALDH7A1):c.992C>A (p.Thr331Asn)
|
|
|
|
NM_001271.4(CHD2):c.3454C>G (p.Arg1152Gly)
|
rs1596443241
|
|
|
NM_001323289.2(CDKL5):c.554+1G>A
|
rs1555950083
|
|
|
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro)
|
rs1555228771
|
|
|
NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)
|
|
|
|
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln)
|
rs1555945553
|
|
|
NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu)
|
rs766945941
|
|
|
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn)
|
rs1553469156
|
|
|
NM_004341.5(CAD):c.1843-3C>T
|
rs1057519262
|
|
|
NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr)
|
rs1594384249
|
|
|
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe)
|
rs1566445489
|
|
|
NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)
|
|
|
|
NM_005918.4(MDH2):c.755C>T (p.Ala252Val)
|
|
|
|
NM_005918.4(MDH2):c.884G>T (p.Gly295Val)
|
|
|
|
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer)
|
rs1570590905
|
|
|
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly)
|
rs1570590859
|
|
|
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)
|
rs886037963
|
|
|
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
|
|
|
|
NM_006772.3(SYNGAP1):c.2143C>T (p.Pro715Ser)
|
|
|
|
NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser)
|
|
|
|
NM_012479.4(YWHAG):c.628_642del (p.Thr210_Asp214del)
|
|
|
|
NM_014795.4(ZEB2):c.899A>G (p.His300Arg)
|
rs1573718595
|
|
|
NM_024818.6(UBA5):c.910G>A (p.Asp304Asn)
|
rs772888455
|
|
|
NM_030948.6(PHACTR1):c.209C>G (p.Pro70Arg)
|
|
|
|
NM_033453.4(ITPA):c.271T>C (p.Phe91Leu)
|
rs1600509558
|
|
|
NM_052874.5(STX1B):c.293G>A (p.Ser98Asn)
|
rs781210585
|
|
|
NM_152743.4(BRAT1):c.394_423dup (p.Ala141_Asp142insGlnHisProSerAlaLeuArgPheLeuAla)
|
|
|
|
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr)
|
rs1555853970
|
|
|
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg)
|
rs794727813
|
|
|
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)
|
rs1045493304
|
|