NM_014334.4(FRRS1L):c.-3C>G
|
rs10979724
|
0.99999
|
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val)
|
rs430554
|
0.85362
|
NM_020822.3(KCNT1):c.600+59A>C
|
rs59909130
|
0.57178
|
NM_020822.3(KCNT1):c.600+60G>A
|
rs56375931
|
0.51258
|
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu)
|
rs144692793
|
0.00569
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile)
|
rs34987632
|
0.00446
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His)
|
rs142740233
|
0.00102
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)
|
rs121917956
|
0.00073
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr)
|
rs147017239
|
0.00030
|
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)
|
rs140731963
|
0.00025
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)
|
rs121917973
|
0.00008
|
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln)
|
rs748581653
|
0.00006
|
NM_020822.3(KCNT1):c.3502+1584G>A
|
rs759235951
|
0.00006
|
NM_000330.4(RS1):c.522+5G>A
|
rs200074383
|
0.00004
|
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp)
|
rs1032588483
|
0.00004
|
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457
|
0.00004
|
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn)
|
rs140313320
|
0.00004
|
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)
|
rs768633670
|
0.00004
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)
|
rs121918808
|
0.00003
|
NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met)
|
rs993963334
|
0.00003
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met)
|
rs779953123
|
0.00002
|
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys)
|
rs767450181
|
0.00002
|
NM_153682.3(PIGP):c.22C>G (p.Pro8Ala)
|
rs201170767
|
0.00002
|
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met)
|
rs1202091819
|
0.00002
|
NM_000330.4(RS1):c.185-3176C>T
|
rs747799506
|
0.00001
|
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln)
|
rs772382171
|
0.00001
|
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile)
|
rs745378416
|
0.00001
|
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val)
|
rs373967247
|
0.00001
|
NM_001323289.2(CDKL5):c.1767C>T (p.His589=)
|
rs267608645
|
0.00001
|
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter)
|
rs786205162
|
0.00001
|
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu)
|
rs936922976
|
0.00001
|
NC_000002.12:g.166051989del
|
rs1574266816
|
|
NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg)
|
rs1595438268
|
|
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile)
|
rs1390364278
|
|
NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val)
|
rs2147455888
|
|
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)
|
rs886040861
|
|
NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter)
|
rs2131501460
|
|
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer)
|
rs1588339898
|
|
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
|
|
|
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)
|
rs1588302912
|
|
NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter)
|
rs1461664423
|
|
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del)
|
rs1588306876
|
|
NM_001032221.6(STXBP1):c.423A>T (p.Glu141Asp)
|
rs1588309392
|
|
NM_001032221.6(STXBP1):c.430-1G>A
|
rs796053354
|
|
NM_001032221.6(STXBP1):c.579-1G>A
|
rs1588317190
|
|
NM_001032221.6(STXBP1):c.795-2A>C
|
rs2131481227
|
|
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)
|
rs1588324025
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser)
|
rs1131692231
|
|
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)
|
rs1131692231
|
|
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu)
|
rs796053180
|
|
NM_001042646.3(TRAK1):c.1963+101GGA[12]
|
rs10634555
|
|
NM_001099922.3(ALG13):c.120A>C (p.Gln40His)
|
rs2147624939
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001110792.2(MECP2):c.*98dup
|
rs267608341
|
|
NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs)
|
rs1603307865
|
|
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs)
|
rs267608446
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs)
|
rs1603341328
|
|
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr)
|
rs1557137042
|
|
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr)
|
rs1603309620
|
|
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly)
|
rs727505391
|
|
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter)
|
rs1603309480
|
|
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)
|
rs61748427
|
|
NM_001110792.2(MECP2):c.62+1G>A
|
rs786205048
|
|
NM_001110792.2(MECP2):c.62+5469A>T
|
rs1557149865
|
|
NM_001110792.2(MECP2):c.62+5503del
|
rs372915987
|
|
NM_001110792.2(MECP2):c.785dup (p.Gly264fs)
|
rs1603308963
|
|
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met)
|
rs779827819
|
|
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys)
|
rs1568546593
|
|
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val)
|
rs1568514116
|
|
NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs)
|
rs1600242882
|
|
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met)
|
rs1600198481
|
|
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)
|
rs1568473171
|
|
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)
|
rs2056510928
|
|
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)
|
rs121909326
|
|
NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu)
|
rs2144559262
|
|
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala)
|
rs1599292631
|
|
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp)
|
rs121908225
|
|
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
|
rs775428832
|
|
NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys)
|
rs863225292
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup)
|
rs2132089818
|
|
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr)
|
rs794726798
|
|
NM_001165963.4(SCN1A):c.1028+1G>A
|
rs863225030
|
|
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys)
|
rs1574240716
|
|
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)
|
rs121917929
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile)
|
rs796053094
|
|
NM_001165963.4(SCN1A):c.126dup (p.Asp43fs)
|
rs1553560831
|
|
NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter)
|
rs1553545567
|
|
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs)
|
rs1574217232
|
|
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val)
|
rs1574215846
|
|
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala)
|
rs1574214843
|
|
NM_001165963.4(SCN1A):c.207del (p.Pro70fs)
|
rs1574371902
|
|
NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter)
|
rs1574209023
|
|
NM_001165963.4(SCN1A):c.2147_2150del (p.Ile716fs)
|
rs1574208760
|
|
NM_001165963.4(SCN1A):c.2177-2A>T
|
rs1436792531
|
|
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs)
|
rs1553543215
|
|
NM_001165963.4(SCN1A):c.2415+1G>A
|
rs886041292
|
|
NM_001165963.4(SCN1A):c.262_264+1del
|
rs1574371141
|
|
NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe)
|
rs1574183148
|
|
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs)
|
rs794729207
|
|
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter)
|
rs1574168611
|
|
NM_001165963.4(SCN1A):c.3429+1G>T
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)
|
rs368609628
|
|
NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs)
|
rs1574069132
|
|
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)
|
rs121917959
|
|
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)
|
rs1559149128
|
|
NM_001165963.4(SCN1A):c.3705+5G>A
|
rs1060502189
|
|
NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs)
|
rs1574052179
|
|
NM_001165963.4(SCN1A):c.384-12A>C
|
rs1574291210
|
|
NM_001165963.4(SCN1A):c.4003-14C>T
|
rs1241008825
|
|
NM_001165963.4(SCN1A):c.4003-1G>A
|
rs1574007140
|
|
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr)
|
rs1574290850
|
|
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs)
|
rs1574005699
|
|
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)
|
rs1573991676
|
|
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys)
|
rs1573984110
|
|
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)
|
rs794729200
|
|
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs)
|
rs1573973548
|
|
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter)
|
rs1573963975
|
|
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)
|
rs1573953706
|
|
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)
|
rs121918778
|
|
NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs)
|
rs1573949198
|
|
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)
|
rs121917950
|
|
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr)
|
rs562208324
|
|
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)
|
rs121917935
|
|
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala)
|
rs551068385
|
|
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)
|
rs1574271644
|
|
NM_001165963.4(SCN1A):c.684del (p.Val229fs)
|
rs1574271602
|
|
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)
|
rs1574264920
|
|
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys)
|
rs1553549471
|
|
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)
|
rs779184118
|
|
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)
|
rs796052811
|
|
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)
|
rs758946412
|
|
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs)
|
rs2147539591
|
|
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs)
|
rs1602636591
|
|
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs)
|
rs1602638456
|
|
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly)
|
rs1602636096
|
|
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter)
|
rs779665170
|
|
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs)
|
rs1602635781
|
|
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly)
|
rs2147537831
|
|
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly)
|
rs1602635282
|
|
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu)
|
rs1602635261
|
|
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)
|
rs1060502175
|
|
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del)
|
rs1602638228
|
|
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs)
|
rs34651888
|
|
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs)
|
rs1602595101
|
|
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs)
|
rs999749949
|
|
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro)
|
rs2147541749
|
|
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)
|
rs796052837
|
|
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter)
|
rs1166554052
|
|
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter)
|
rs1602636952
|
|
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val)
|
rs1602636925
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
NM_001205293.3(CACNA1E):c.3940A>C (p.Lys1314Gln)
|
rs2102682130
|
|
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)
|
rs1060503519
|
|
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg)
|
rs1596427970
|
|
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter)
|
rs1596436494
|
|
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter)
|
rs767106034
|
|
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs)
|
rs752940775
|
|
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer)
|
rs748694853
|
|
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del)
|
rs1596183293
|
|
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs)
|
rs1602286391
|
|
NM_001323289.2(CDKL5):c.145+1G>A
|
rs2147132274
|
|
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter)
|
rs751789670
|
|
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg)
|
rs1602286720
|
|
NM_001323289.2(CDKL5):c.1742dup (p.His581fs)
|
rs1602286792
|
|
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter)
|
rs1602286899
|
|
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys)
|
rs1602269367
|
|
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter)
|
rs1602298653
|
|
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter)
|
rs863225289
|
|
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter)
|
rs2147139684
|
|
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs)
|
rs2147142645
|
|
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg)
|
rs863225290
|
|
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr)
|
rs1602271692
|
|
NM_001323289.2(CDKL5):c.386del (p.Asn129fs)
|
rs1602271718
|
|
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter)
|
rs267608477
|
|
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys)
|
rs2147145573
|
|
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro)
|
rs587783087
|
|
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val)
|
rs2147148055
|
|
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)
|
rs1602232972
|
|
NM_001323289.2(CDKL5):c.825+1dup
|
rs1602280455
|
|
NM_001323289.2(CDKL5):c.906del (p.Leu303fs)
|
rs2147156191
|
|
NM_001323289.2(CDKL5):c.978-1G>A
|
rs2147160087
|
|
NM_001326342.2(CELF2):c.1353del (p.Asp451fs)
|
rs2132555667
|
|
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu)
|
rs879255699
|
|
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)
|
rs797045013
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu)
|
rs1592149771
|
|
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly)
|
rs863225295
|
|
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)
|
rs1064793263
|
|
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)
|
rs1555228931
|
|
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)
|
rs1555229496
|
|
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser)
|
rs1555230928
|
|
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr)
|
rs1555231012
|
|
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)
|
rs796053228
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter)
|
rs1602577529
|
|
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter)
|
rs758111714
|
|
NM_001367561.1(DOCK7):c.5463dup (p.Gln1822fs)
|
rs1571266478
|
|
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln)
|
rs1602206653
|
|
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs)
|
rs1602206514
|
|
NM_002641.4(PIGA):c.955G>A (p.Val319Met)
|
rs765961204
|
|
NM_004341.5(CAD):c.571C>T (p.Arg191Ter)
|
rs1572423883
|
|
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser)
|
rs1131692025
|
|
NM_004408.4(DNM1):c.985C>G (p.Leu329Val)
|
rs868772525
|
|
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile)
|
rs1553181282
|
|
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala)
|
rs1553181280
|
|
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro)
|
rs2146813611
|
|
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro)
|
rs2146813509
|
|
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)
|
rs781663444
|
|
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe)
|
rs1601072041
|
|
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser)
|
rs1601071747
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe)
|
rs1984259606
|
|
NM_005249.5(FOXG1):c.430G>A (p.Glu144Lys)
|
rs797045583
|
|
NM_005249.5(FOXG1):c.485dup (p.Gly163fs)
|
rs2138660968
|
|
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys)
|
rs1594383704
|
|
NM_005249.5(FOXG1):c.85del (p.Gln29fs)
|
rs1594382746
|
|
NM_006922.4(SCN3A):c.2350A>G (p.Met784Val)
|
rs778744191
|
|
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del)
|
rs1574159505
|
|
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser)
|
rs1554616627
|
|
NM_012479.4(YWHAG):c.451G>T (p.Glu151Ter)
|
rs1389455796
|
|
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)
|
rs1553252938
|
|
NM_015047.3(EMC1):c.1754C>A (p.Pro585Gln)
|
rs1572001567
|
|
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn)
|
rs1783518295
|
|
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)
|
rs772520618
|
|
NM_016373.4(WWOX):c.*187_*190dup
|
rs1597489135
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
|
NM_016373.4(WWOX):c.136C>T (p.His46Tyr)
|
rs1597207871
|
|
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)
|
rs11545029
|
|
NM_016373.4(WWOX):c.705dup (p.His236fs)
|
rs1597216056
|
|
NM_019066.5(MAGEL2):c.2099dup (p.Val701fs)
|
rs2140714298
|
|
NM_019066.5(MAGEL2):c.2199del (p.Glu734fs)
|
rs1595332359
|
|
NM_019066.5(MAGEL2):c.2894G>A (p.Trp965Ter)
|
rs2140713056
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)
|
rs1588344733
|
|
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys)
|
rs1060503696
|
|
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)
|
rs1193627908
|
|
NM_020822.3(KCNT1):c.600+71dup
|
rs879903723
|
|
NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe)
|
rs1057522914
|
|
NM_020988.3(GNAO1):c.124G>A (p.Gly42Arg)
|
rs2143272046
|
|
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn)
|
rs1555499800
|
|
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn)
|
rs1596867702
|
|
NM_020988.3(GNAO1):c.607G>C (p.Gly203Arg)
|
rs587777057
|
|
NM_020988.3(GNAO1):c.610G>C (p.Gly204Arg)
|
rs2143664861
|
|
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro)
|
rs2143664881
|
|
NM_020988.3(GNAO1):c.620C>T (p.Ser207Phe)
|
rs1057518440
|
|
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val)
|
rs1114167431
|
|
NM_020988.3(GNAO1):c.748C>T (p.Leu250Phe)
|
rs2143699618
|
|
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del)
|
rs747975797
|
|
NM_024818.6(UBA5):c.1A>G (p.Met1Val)
|
rs2107921941
|
|
NM_024818.6(UBA5):c.36_37del (p.Gln13fs)
|
rs2107922089
|
|
NM_031844.3(HNRNPU):c.112C>A (p.Leu38Ile)
|
rs2102991012
|
|
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs)
|
rs1573330458
|
|
NM_031844.3(HNRNPU):c.1905_1906del (p.Lys635fs)
|
rs2102985675
|
|
NM_031844.3(HNRNPU):c.223G>T (p.Glu75Ter)
|
rs773969888
|
|
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs)
|
rs794729648
|
|
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter)
|
rs1573337948
|
|
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs)
|
rs779453109
|
|
NM_031844.3(HNRNPU):c.804-9_804-6del
|
rs2102989400
|
|
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)
|
rs104894746
|
|
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs)
|
rs1601946502
|
|
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del)
|
rs1601946492
|
|
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs)
|
rs1601945599
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter)
|
rs794729222
|
|
NM_172107.4(KCNQ2):c.698_699insACC (p.Val233_Thr234insPro)
|
rs794729197
|
|
NM_177550.5(SLC13A5):c.103-1G>A
|
rs1597677742
|
|
NM_177550.5(SLC13A5):c.1276-1G>A
|
rs1597657030
|
|
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro)
|
rs1555543400
|
|
NM_198503.5(KCNT2):c.725C>A (p.Thr242Asn)
|
rs1572418357
|
|
NM_198503.5(KCNT2):c.914G>C (p.Cys305Ser)
|
rs2148537524
|
|