NM_006567.5(FARS2):c.667C>T (p.Arg223Cys)
|
rs202060864
|
0.00028
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_133443.4(GPT2):c.286G>A (p.Gly96Arg)
|
rs778445616
|
0.00014
|
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg)
|
rs190706099
|
0.00006
|
NM_019023.5(PRMT7):c.224C>T (p.Thr75Met)
|
rs371698853
|
0.00003
|
NM_000702.4(ATP1A2):c.1888A>C (p.Ile630Leu)
|
rs1382260409
|
0.00001
|
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp)
|
rs796053043
|
0.00001
|
NM_020822.3(KCNT1):c.884C>T (p.Ala295Val)
|
rs1272987725
|
0.00001
|
NM_000089.4(COL1A2):c.1865G>T (p.Gly622Val)
|
rs2115921279
|
|
NM_000330.4(RS1):c.185-3090C>T
|
rs1569231336
|
|
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)
|
rs1653241392
|
|
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
|
|
|
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
|
|
|
NM_000834.5(GRIN2B):c.2236T>A (p.Cys746Ser)
|
|
|
NM_001009999.3(KDM1A):c.1196A>G (p.Asp399Gly)
|
rs1553130904
|
|
NM_001029896.2(WDR45):c.185T>C (p.Leu62Pro)
|
rs1602540295
|
|
NM_001029896.2(WDR45):c.2T>A (p.Met1Lys)
|
rs1569523565
|
|
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)
|
|
|
NM_001032221.6(STXBP1):c.1461+1G>T
|
|
|
NM_001037333.3(CYFIP2):c.2066A>G (p.Glu689Gly)
|
rs1761011834
|
|
NM_001037333.3(CYFIP2):c.322T>C (p.Tyr108His)
|
|
|
NM_001037343.1:c.100-?_744+?dup
|
|
|
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro)
|
|
|
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
|
|
|
NM_001040142.2(SCN2A):c.164A>C (p.Asp55Ala)
|
rs1574525321
|
|
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)
|
|
|
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
|
|
|
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
|
|
|
NM_001040142.2(SCN2A):c.5616G>C (p.Met1872Ile)
|
|
|
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr)
|
rs1553567561
|
|
NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr)
|
rs1554122911
|
|
NM_001080517.3(SETD5):c.3631G>A (p.Asp1211Asn)
|
|
|
NM_001101.5(ACTB):c.219C>G (p.His73Gln)
|
|
|
NM_001101.5(ACTB):c.325C>T (p.Pro109Ser)
|
rs1784829872
|
|
NM_001111125.3(IQSEC2):c.3554del (p.Pro1185fs)
|
|
|
NM_001111125.3(IQSEC2):c.738-1G>A
|
|
|
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
|
|
|
NM_001127222.2(CACNA1A):c.3138dup (p.Thr1047fs)
|
|
|
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile)
|
rs1554086436
|
|
NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu)
|
|
|
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
|
|
|
NM_001134407.3(GRIN2A):c.2007+1G>T
|
|
|
NM_001136035.4(TRMT1):c.311-1G>A
|
rs2019322057
|
|
NM_001161352.2(KCNMA1):c.1699G>A (p.Gly567Ser)
|
rs2096271045
|
|
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp)
|
rs199681253
|
|
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)
|
rs1698009615
|
|
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle)
|
rs1697127484
|
|
NM_001165963.4(SCN1A):c.4064T>G (p.Leu1355Arg)
|
rs121918776
|
|
NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe)
|
rs121917913
|
|
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
|
rs1690574155
|
|
NM_001165963.4(SCN1A):c.4477-3T>A
|
rs1690013843
|
|
NM_001165963.4(SCN1A):c.4582-2A>G
|
rs2105449932
|
|
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
|
|
|
NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met)
|
rs1283681963
|
|
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser)
|
rs1689271992
|
|
NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser)
|
|
|
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs)
|
rs2105430494
|
|
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro)
|
rs2105890296
|
|
NM_001172509.2(SATB2):c.597+1G>A
|
rs1559016679
|
|
NM_001182.5(ALDH7A1):c.1235C>T (p.Thr412Ile)
|
rs1471604421
|
|
NM_001182.5(ALDH7A1):c.916T>A (p.Phe306Ile)
|
rs2112768468
|
|
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
|
|
|
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro)
|
rs1928358562
|
|
NM_001190274.2(FBXO11):c.1637G>A (p.Gly546Glu)
|
rs1671446564
|
|
NM_001190274.2(FBXO11):c.1993G>A (p.Gly665Arg)
|
rs1671184211
|
|
NM_001190274.2(FBXO11):c.2603G>A (p.Cys868Tyr)
|
rs1670371887
|
|
NM_001197104.2(KMT2A):c.3740_3741del (p.Ser1247fs)
|
rs1565286640
|
|
NM_001242896.3(DEPDC5):c.2107_2515+2dup
|
|
|
NM_001242896.3(DEPDC5):c.2354+2T>A
|
rs2148953712
|
|
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
|
|
|
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
|
|
|
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly)
|
|
|
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
|
|
|
NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly)
|
rs2141871764
|
|
NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs)
|
rs1569542167
|
|
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)
|
rs1227093654
|
|
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn)
|
rs1602263431
|
|
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe)
|
rs1569213917
|
|
NM_001323289.2(CDKL5):c.632T>C (p.Phe211Ser)
|
rs2147148081
|
|
NM_001330260.2(SCN8A):c.1093C>T (p.Arg365Cys)
|
rs867660463
|
|
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser)
|
rs2138904379
|
|
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys)
|
|
|
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
|
|
|
NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly)
|
rs2138735599
|
|
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)
|
rs2148612918
|
|
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
|
|
|
NM_001348768.2(HECW2):c.4331G>C (p.Arg1444Thr)
|
rs1687613913
|
|
NM_001348800.3(ZBTB20):c.1499_1511del (p.Ile500fs)
|
rs2108202536
|
|
NM_001349338.3(FOXP1):c.1147-2A>G
|
rs1559621862
|
|
NM_001349338.3(FOXP1):c.1429-13_1429-3del
|
rs1559617016
|
|
NM_001353921.2(ARHGEF9):c.1078-3T>G
|
|
|
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
|
|
|
NM_001365999.1(SZT2):c.6881T>G (p.Val2294Gly)
|
rs2153935420
|
|
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)
|
rs137852818
|
|
NM_001367721.1(CASK):c.359A>G (p.His120Arg)
|
rs1602550687
|
|
NM_001371986.1(UNC80):c.2776-3C>G
|
rs1355480465
|
|
NM_001374828.1(ARID1B):c.5395-2A>C
|
rs1562350940
|
|
NM_001375524.1(TRRAP):c.3103C>G (p.Arg1035Gly)
|
|
|
NM_001378120.1(MBD5):c.1A>G (p.Met1Val)
|
|
|
NM_001378969.1(KCND3):c.1076G>T (p.Trp359Leu)
|
rs1571939623
|
|
NM_001379403.1(WDR26):c.1198C>T (p.Arg400Cys)
|
rs2102912929
|
|
NM_001614.5(ACTG1):c.439C>T (p.Arg147Cys)
|
rs2031775804
|
|
NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro)
|
rs1924450715
|
|
NM_001958.5(EEF1A2):c.821C>T (p.Pro274Leu)
|
|
|
NM_002074.5(GNB1):c.154C>T (p.Arg52Trp)
|
rs2100858748
|
|
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
|
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
|
|
|
NM_002653.5(PITX1):c.412A>C (p.Lys138Gln)
|
rs1752408637
|
|
NM_002653.5(PITX1):c.793G>T (p.Gly265Cys)
|
rs141612135
|
|
NM_002911.4(UPF1):c.2489A>G (p.Gln830Arg)
|
rs2055786277
|
|
NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu)
|
rs766945941
|
|
NM_003042.4(SLC6A1):c.1531G>T (p.Val511Leu)
|
|
|
NM_003042.4(SLC6A1):c.232G>T (p.Gly78Cys)
|
rs2124905696
|
|
NM_003042.4(SLC6A1):c.518G>A (p.Cys173Tyr)
|
|
|
NM_003042.4(SLC6A1):c.715-1G>C
|
|
|
NM_003042.4(SLC6A1):c.836T>C (p.Leu279Pro)
|
rs2124924511
|
|
NM_003072.5(SMARCA4):c.1947_2001+3del
|
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)
|
|
|
NM_003482.4(KMT2D):c.1769dup (p.Met590fs)
|
rs1565819425
|
|
NM_003482.4(KMT2D):c.4262G>A (p.Gly1421Asp)
|
rs1565807707
|
|
NM_003718.5(CDK13):c.2140G>T (p.Gly714Cys)
|
|
|
NM_003718.5(CDK13):c.2510A>G (p.Asp837Gly)
|
rs1785729477
|
|
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
|
|
|
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)
|
rs1553798675
|
|
NM_004187.5(KDM5C):c.100del (p.Ile34fs)
|
|
|
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
|
|
|
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
|
|
|
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
|
|
|
NM_004519.4(KCNQ3):c.956A>G (p.Tyr319Cys)
|
rs1554627218
|
|
NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys)
|
|
|
NM_004595.5(SMS):c.581T>G (p.Val194Gly)
|
|
|
NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln)
|
rs2100402606
|
|
NM_004974.4(KCNA2):c.485C>A (p.Ala162Asp)
|
|
|
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
|
|
|
NM_005097.4(LGI1):c.215+2T>A
|
rs2059586444
|
|
NM_005097.4(LGI1):c.287+3G>C
|
|
|
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg)
|
|
|
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp)
|
rs866273473
|
|
NM_005654.6(NR2F1):c.452T>C (p.Met151Thr)
|
|
|
NM_005654.6(NR2F1):c.453G>C (p.Met151Ile)
|
rs1580358677
|
|
NM_005660.3(SLC35A2):c.515T>C (p.Leu172Pro)
|
|
|
NM_005862.3(STAG1):c.1102G>A (p.Glu368Lys)
|
|
|
NM_006009.4(TUBA1A):c.962G>A (p.Gly321Asp)
|
|
|
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser)
|
rs2124446500
|
|
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val)
|
rs1570590528
|
|
NM_006516.4(SLC2A1):c.679+1G>A
|
rs1553156086
|
|
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)
|
rs80359824
|
|
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)
|
rs1554121206
|
|
NM_006908.5(RAC1):c.116A>G (p.Asn39Ser)
|
|
|
NM_006914.4(RORB):c.1163T>A (p.Ile388Asn)
|
|
|
NM_006914.4(RORB):c.926G>A (p.Arg309His)
|
rs1824250656
|
|
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)
|
rs1565669640
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
|
|
|
NM_007325.5(GRIA3):c.1961C>T (p.Ala654Val)
|
|
|
NM_007327.4(GRIN1):c.1939T>C (p.Tyr647His)
|
rs1833621750
|
|
NM_007327.4(GRIN1):c.679G>C (p.Asp227His)
|
|
|
NM_012414.4(RAB3GAP2):c.3385G>A (p.Asp1129Asn)
|
rs1657877888
|
|
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)
|
rs1131691512
|
|
NM_013436.5(NCKAP1):c.778A>T (p.Lys260Ter)
|
|
|
NM_014284.3(NCDN):c.216dup (p.Arg73fs)
|
rs2148537359
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
NM_014927.5(CNKSR2):c.228+1G>A
|
|
|
NM_015021.3(ZNF292):c.4862del (p.Asn1621fs)
|
rs2127867444
|
|
NM_015047.3(EMC1):c.1134C>A (p.Tyr378Ter)
|
rs778470143
|
|
NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter)
|
|
|
NM_015178.3(RHOBTB2):c.268C>T (p.His90Tyr)
|
|
|
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
|
|
|
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu)
|
rs1565981137
|
|
NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys)
|
|
|
NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn)
|
|
|
NM_016194.4(GNB5):c.368C>G (p.Ser123Trp)
|
|
|
NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)
|
rs2083259164
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_017934.7(PHIP):c.562T>C (p.Cys188Arg)
|
rs1772296823
|
|
NM_019023.5(PRMT7):c.347T>A (p.Ile116Asn)
|
rs2151558358
|
|
NM_019842.4(KCNQ5):c.1039G>A (p.Gly347Ser)
|
rs1554210415
|
|
NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)
|
|
|
NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)
|
|
|
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
|
|
|
NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
|
|
|
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg)
|
|
|
NM_022455.5(NSD1):c.4378+1G>A
|
rs587784115
|
|
NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg)
|
rs2149307214
|
|
NM_022552.5(DNMT3A):c.2525A>G (p.Gln842Arg)
|
rs771174392
|
|
NM_022552.5(DNMT3A):c.920C>T (p.Pro307Leu)
|
rs759380437
|
|
NM_024757.5(EHMT1):c.1249-2A>G
|
|
|
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp)
|
rs137852727
|
|
NM_031844.3(HNRNPU):c.2425-2A>T
|
rs1553281924
|
|
NM_130839.5(UBE3A):c.2273G>A (p.Gly758Glu)
|
|
|
NM_145239.3(PRRT2):c.776del (p.Gly259fs)
|
rs1900111672
|
|
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)
|
|
|
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr)
|
rs2145972483
|
|
NM_152296.5(ATP1A3):c.1090T>C (p.Cys364Arg)
|
rs2075237136
|
|
NM_152296.5(ATP1A3):c.1801A>R (p.Ile601Xaa)
|
|
|
NM_152296.5(ATP1A3):c.991A>C (p.Thr331Pro)
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NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
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NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile)
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rs2080191127
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NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
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NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
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NM_172107.4(KCNQ2):c.256G>A (p.Glu86Lys)
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NM_172107.4(KCNQ2):c.388-2A>G
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rs2145779858
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NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
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NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter)
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rs2145922320
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NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
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NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
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NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu)
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rs2145712576
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NM_173630.4(RTTN):c.6638T>C (p.Leu2213Ser)
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rs2145420319
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NM_198904.4(GABRG2):c.259+5G>T
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rs2113298784
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