|
NM_001127643.2(GABRA1):c.-248+1G>T
|
rs191560793
|
0.00071
|
|
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys)
|
rs201228765
|
0.00014
|
|
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)
|
rs775162839
|
0.00006
|
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
|
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu)
|
rs770023814
|
0.00003
|
|
NM_152743.4(BRAT1):c.319G>A (p.Gly107Arg)
|
rs749992319
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His)
|
rs1057519429
|
0.00001
|
|
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)
|
rs121918801
|
0.00001
|
|
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)
|
rs564185858
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys)
|
rs897976020
|
0.00001
|
|
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg)
|
rs867553974
|
|
|
NM_000836.4(GRIN2D):c.1724C>T (p.Ser575Leu)
|
rs1970945661
|
|
|
NM_000836.4(GRIN2D):c.2029C>G (p.Leu677Val)
|
rs901526282
|
|
|
NM_000836.4(GRIN2D):c.3340GACTCGGAG[3] (p.1114DSE[3])
|
rs749701862
|
|
|
NM_001032221.6(STXBP1):c.1480C>T (p.Leu494Phe)
|
rs1554778810
|
|
|
NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn)
|
rs1699364791
|
|
|
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)
|
rs794727152
|
|
|
NM_001040142.2(SCN2A):c.2950A>C (p.Ser984Arg)
|
rs1700069881
|
|
|
NM_001040142.2(SCN2A):c.3128A>C (p.Glu1043Ala)
|
rs2105337160
|
|
|
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe)
|
rs1702006673
|
|
|
NM_001040142.2(SCN2A):c.5924A>G (p.Tyr1975Cys)
|
rs1574754722
|
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
|
NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs)
|
rs2065988707
|
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
|
NM_001127222.2(CACNA1A):c.2172+14G>A
|
rs1195908031
|
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
|
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg)
|
rs2059190701
|
|
|
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro)
|
rs1199275549
|
|
|
NM_001127644.2(GABRA1):c.1032G>A (p.Trp344Ter)
|
rs2113465037
|
|
|
NM_001127644.2(GABRA1):c.809T>C (p.Val270Ala)
|
rs1755063375
|
|
|
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)
|
rs796053229
|
|
|
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter)
|
rs2052539418
|
|
|
NM_004408.4(DNM1):c.1116C>G (p.Phe372Leu)
|
rs367584321
|
|
|
NM_005249.5(FOXG1):c.256del (p.Gln86fs)
|
rs786205001
|
|
|
NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp)
|
rs1554689320
|
|
|
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter)
|
rs878853280
|
|
|
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter)
|
rs1595332731
|
|
|
NM_020988.3(GNAO1):c.499G>C (p.Asp167His)
|
rs2037724346
|
|
|
NM_031844.3(HNRNPU):c.229G>C (p.Glu77Gln)
|
rs2102990891
|
|
|
NM_033453.4(ITPA):c.136_138delinsTAA (p.Gln46Ter)
|
rs2067217104
|
|
|
NM_139058.3(ARX):c.121A>C (p.Met41Leu)
|
rs2147325425
|
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
|
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)
|
rs759584387
|
|
|
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)
|
rs796052618
|
|
|
NM_172107.4(KCNQ2):c.64G>A (p.Val22Met)
|
rs2082239153
|
|
|
NM_173354.5(SIK1):c.443G>C (p.Arg148Pro)
|
rs2146474084
|
|
|
NM_183381.3(RNF13):c.898C>T (p.Gln300Ter)
|
rs1435275372
|
|