List of variants reported as pathogenic for electroclinical syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 1645

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe)	rs16989535	0.02396
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala)	rs3025962	0.01491
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile)	rs79499902	0.01040
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala)	rs75559202	0.00684
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr)	rs79087668	0.00498
NM_016097.5(IER3IP1):c.*58T>C	rs150586939	0.00406
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)	rs61738009	0.00239
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)	rs181347577	0.00218
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)	rs144787939	0.00217
NM_001130438.3(SPTAN1):c.3720-5T>G	rs200543425	0.00180
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)	rs180922748	0.00174
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	rs121918799	0.00159
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser)	rs145873257	0.00156
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro)	rs147896487	0.00155
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)	rs121918817	0.00154
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)	rs114684479	0.00140
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)	rs138282349	0.00128
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)	rs191333060	0.00123
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)	rs202162520	0.00121
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)	rs35993949	0.00121
NM_001242896.3(DEPDC5):c.3265-3C>T	rs371377906	0.00108
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr)	rs141068211	0.00098
NM_018723.4(RBFOX1):c.677-5C>T	rs147023054	0.00077
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)	rs202170644	0.00064
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)	rs138452760	0.00062
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)	rs199692186	0.00056
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)	rs143166100	0.00054
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)	rs150268016	0.00049
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln)	rs758630057	0.00048
NM_005045.4(RELN):c.139G>A (p.Glu47Lys)	rs139648092	0.00047
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr)	rs143880787	0.00034
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)	rs150821246	0.00031
NM_005045.4(RELN):c.8843+3A>C	rs200124755	0.00029
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter)	rs774995635	0.00019
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)	rs115035120	0.00018
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro)	rs142540948	0.00017
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu)	rs185511111	0.00016
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp)	rs144234059	0.00016
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)	rs117209694	0.00016
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg)	rs201338643	0.00014
NM_024700.4(SNIP1):c.331C>T (p.Arg111Cys)	rs202020647	0.00014
NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala)	rs370940232	0.00011
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys)	rs147748994	0.00010
NM_014141.6(CNTNAP2):c.755-5C>T	rs369675346	0.00010
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu)	rs755088564	0.00009
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu)	rs200817435	0.00009
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln)	rs368906199	0.00009
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr)	rs147324129	0.00008
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg)	rs199576384	0.00008
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp)	rs755898320	0.00006
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)	rs752396911	0.00006
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter)	rs368928190	0.00006
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)	rs398122967	0.00005
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter)	rs745800110	0.00005
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter)	rs201257588	0.00005
NM_198904.4(GABRG2):c.549-3T>G	rs750459631	0.00005
NM_000330.4(RS1):c.522+5G>A	rs200074383	0.00004
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys)	rs780658554	0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp)	rs569997507	0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)	rs587780353	0.00004
NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met)	rs200965749	0.00004
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp)	rs786203983	0.00004
NM_007254.4(PNKP):c.603dup (p.Lys202Ter)	rs796052859	0.00004
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr)	rs147815978	0.00004
NM_016373.4(WWOX):c.173-6T>G	rs200812468	0.00004
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp)	rs1360906241	0.00003
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu)	rs121918334	0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	rs398122965	0.00003
NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter)	rs200535620	0.00003
NM_007254.4(PNKP):c.1517G>A (p.Trp506Ter)	rs778043139	0.00003
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter)	rs587777248	0.00003
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter)	rs796052504	0.00003
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)	rs74315442	0.00002
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu)	rs138450474	0.00002
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp)	rs121917748	0.00002
NM_001134407.3(GRIN2A):c.2441T>C (p.Ile814Thr)	rs780654733	0.00002
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys)	rs1057519629	0.00002
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)	rs564477999	0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)	rs267607105	0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)	rs376712059	0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)	rs747538224	0.00002
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)	rs201330912	0.00002
NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr)	rs1381851622	0.00002
NM_006279.5(ST3GAL3):c.166+1G>A	rs148531289	0.00002
NM_007254.4(PNKP):c.318G>A (p.Trp106Ter)	rs2074810148	0.00002
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys)	rs760930032	0.00002
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)	rs756762196	0.00002
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter)	rs774592932	0.00001
NM_001134407.3(GRIN2A):c.2289T>G (p.Ile763Met)	rs1903130042	0.00001
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys)	rs398122966	0.00001
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs)	rs2065786997	0.00001
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)	rs483352866	0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)	rs748302886	0.00001
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)	rs756181906	0.00001
NM_001199107.2(TBC1D24):c.706G>A (p.Gly236Ser)	rs1183009408	0.00001
NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His)	rs199744635	0.00001
NM_001242896.3(DEPDC5):c.-57G>C	rs1383795440	0.00001
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile)	rs768456731	0.00001
NM_001365999.1(SZT2):c.3977C>T (p.Ala1326Val)	rs747241860	0.00001
NM_001365999.1(SZT2):c.4135C>T (p.Arg1379Trp)	rs752473314	0.00001
NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His)	rs562214305	0.00001
NM_001365999.1(SZT2):c.7112A>T (p.Glu2371Val)	rs1306918506	0.00001
NM_001365999.1(SZT2):c.7887G>A (p.Met2629Ile)	rs748723710	0.00001
NM_001365999.1(SZT2):c.8939C>T (p.Thr2980Ile)	rs766294629	0.00001
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln)	rs1293789661	0.00001
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)	rs1204519015	0.00001
NM_005076.5(CNTN2):c.940C>T (p.Arg314Ter)	rs1422381117	0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter)	rs1195818093	0.00001
NM_007254.4(PNKP):c.1066G>T (p.Glu356Ter)	rs1170743406	0.00001
NM_007254.4(PNKP):c.1207C>T (p.Gln403Ter)	rs372404688	0.00001
NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter)	rs539286945	0.00001
NM_007254.4(PNKP):c.143del (p.Arg48fs)	rs766530579	0.00001
NM_007254.4(PNKP):c.363dup (p.Thr122fs)	rs745505490	0.00001
NM_007254.4(PNKP):c.992G>A (p.Trp331Ter)	rs772727116	0.00001
NM_014141.6(CNTNAP2):c.2290C>A (p.His764Asn)	rs201446615	0.00001
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr)	rs751491210	0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)	rs149998588	0.00001
NM_018100.4(EFHC1):c.826C>T (p.Arg276Ter)	rs796052414	0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	rs142500730	0.00001
NM_018723.4(RBFOX1):c.538G>A (p.Val180Met)	rs372761949	0.00001
NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser)	rs879255631	0.00001
NM_145239.3(PRRT2):c.880-34G>A	rs1239450803	0.00001
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)	rs1301400509	0.00001
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr)	rs781255236	0.00001
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)	rs118192236	0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter)	rs786205162	0.00001
NM_198904.4(GABRG2):c.571C>T (p.Gln191Ter)	rs1334776746	0.00001
CHD2, ARG1644LYSFSTER22
CHD2, GLU1412GLYFSTER64
CHD2, GLY491VALFSTER13
CHD2, TRP548ARG
GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1
GRCh38/hg38 16q23.1(chr16:78064581-78164300)x1
GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1
NC_000001.10:g.(?_205022314)_(205042893_?)del
NC_000002.11:g.(?_165946660)_(166153665_?)del
NC_000002.11:g.(?_165946660)_(167168266_?)del
NC_000002.11:g.(?_166198786)_(166201441_?)del
NC_000002.11:g.(?_166210682)_(167168266_?)del
NC_000002.11:g.(?_166229715)_(166237727_?)del
NC_000002.11:g.(?_166237082)_(166237727_?)dup
NC_000002.11:g.(?_166237082)_(166246334_?)del
NC_000002.11:g.(?_166237246)_(166237713_?)del
NC_000002.11:g.(?_166237583)_(166246334_?)del
NC_000002.11:g.(?_166237651)_(166240529_?)del
NC_000002.12:g.(?_165090130)_(165344931_?)del
NC_000002.12:g.(?_165090130)_(166311776_?)del
NC_000002.12:g.(?_165365123)_(165389844_?)del
NC_000002.12:g.96197067AAAAT[(n)]/AAATG[(n)]
NC_000005.10:g.(?_162066642)_(162156539_?)del
NC_000005.10:g.(?_162067980)_(162068126_?)del
NC_000005.10:g.(?_162101215)_(162104046_?)del
NC_000005.10:g.(?_162101225)_(162153368_?)del
NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)]
NC_000005.9:g.(?_160721068)_(161528343_?)del
NC_000005.9:g.(?_161128494)_(161580374_?)del
NC_000005.9:g.(?_161277817)_(161580374_?)del
NC_000005.9:g.(?_161309544)_(161309727_?)del
NC_000005.9:g.(?_161381199)_(161531016_?)del
NC_000005.9:g.(?_161495006)_(161495132_?)del
NC_000005.9:g.(?_161495006)_(161528343_?)del
NC_000005.9:g.(?_161495006)_(161531052_?)del
NC_000005.9:g.(?_161495006)_(161569342_?)del
NC_000005.9:g.(?_161495006)_(161580374_?)del
NC_000005.9:g.(?_161520814)_(161531052_?)del
NC_000005.9:g.(?_161520814)_(161580374_?)del
NC_000005.9:g.(?_161530875)_(161580374_?)del
NC_000005.9:g.(?_161569150)_(161580374_?)del
NC_000008.10:g.(?_133141509)_(133492779_?)del
NC_000008.10:g.(?_133141509)_(134296554_?)del
NC_000008.10:g.119379055_119379157TGAAA[100_?]TAAAA[40_?]
NC_000008.10:g.119379055_119379157TGAAA[149]TAAAA[446]
NC_000009.11:g.(?_130374683)_(131329276_?)del
NC_000009.11:g.(?_130980490)_(130996406_?)del
NC_000009.11:g.(?_131382516)_(131393966_?)del
NC_000012.11:g.(?_13828659)_(13828813_?)del
NC_000012.11:g.(?_13906231)_(13906869_?)del
NC_000012.12:g.(?_12717002)_(13982130_?)del
NC_000015.10:g.(?_25862297)_(26937328_?)del
NC_000015.10:g.(?_26547773)_(26775295_?)del
NC_000015.10:g.(?_26567561)_(26629023_?)del
NC_000015.10:g.(?_92901218)_(92901319_?)del
NC_000015.10:g.(?_92901218)_(93040513_?)del
NC_000015.10:g.(?_92929010)_(92929111_?)del
NC_000015.10:g.(?_92939558)_(92944535_?)del
NC_000015.10:g.(?_92967305)_(93012464_?)del
NC_000015.10:g.(?_92996937)_(93014929_?)del
NC_000015.9:g.(?_26107444)_(28230334_?)del
NC_000015.9:g.(?_26792940)_(26828581_?)del
NC_000015.9:g.(?_26792940)_(26866701_?)del
NC_000015.9:g.(?_26792940)_(27018109_?)del
NC_000015.9:g.(?_26792940)_(27020442_?)del
NC_000015.9:g.(?_26866441)_(26866701_?)del
NC_000015.9:g.(?_27017529)_(27018109_?)del
NC_000015.9:g.(?_93444468)_(93536248_?)del
NC_000015.9:g.(?_93444468)_(93583743_?)del
NC_000015.9:g.(?_93485032)_(93515667_?)del
NC_000015.9:g.(?_93489031)_(93489466_?)del
NC_000015.9:g.(?_93514985)_(93518190_?)del
NC_000015.9:g.(?_93521444)_(93522533_?)del
NC_000015.9:g.(?_93528708)_(93528923_?)del
NC_000015.9:g.(?_93552355)_(93567935_?)del
NC_000016.10:g.(?_2496129)_(2500978_?)del
NC_000016.10:g.(?_29813054)_(29813955_?)del
NC_000016.10:g.(?_78099759)_(78099909_?)del
NC_000016.10:g.(?_78099759)_(78115174_?)del
NC_000016.10:g.(?_78099759)_(78432772_?)del
NC_000016.10:g.(?_78164163)_(78164309_?)del
NC_000016.10:g.(?_78278583)_(78386968_?)del
NC_000016.10:g.(?_78386840)_(78386968_?)del
NC_000016.10:g.(?_78386840)_(78432772_?)del
NC_000016.10:g.(?_78424850)_(78425075_?)del
NC_000016.10:g.(?_78424850)_(78432772_?)del
NC_000016.10:g.(?_79211588)_(79211816_?)del
NC_000016.10:g.(?_9798257)_(9849981_?)del
NC_000016.10:g.(?_9829403)_(9829672_?)del
NC_000016.10:g.(?_9849736)_(9849981_?)del
NC_000016.10:g.(?_9890966)_(10180431_?)del
NC_000016.10:g.(?_9890966)_(9891120_?)del
NC_000016.9:g.(?_10031796)_(10032428_?)del
NC_000016.9:g.(?_10273835)_(10274268_?)del
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_10273845)_(10274268_?)del
NC_000016.9:g.(?_2546150)_(2550959_?)del
NC_000016.9:g.(?_2550259)_(3154076_?)del
NC_000016.9:g.(?_78133671)_(78149061_?)del
NC_000016.9:g.(?_78133676)_(78149071_?)del
NC_000016.9:g.(?_78133676)_(79633799_?)del
NC_000016.9:g.(?_78142300)_(78198206_?)del
NC_000016.9:g.(?_78142310)_(78142394_?)del
NC_000016.9:g.(?_78148853)_(78149071_?)del
NC_000016.9:g.(?_78148853)_(78198206_?)del
NC_000016.9:g.(?_78352643)_(78420837_?)dup
NC_000016.9:g.(?_78420737)_(78458972_?)del
NC_000016.9:g.(?_78420737)_(81991603_?)del
NC_000016.9:g.(?_78420747)_(78458962_?)del
NC_000016.9:g.(?_78420747)_(78466659_?)del
NC_000016.9:g.(?_78458747)_(79245693_?)del
NC_000016.9:g.(?_8829597)_(9923529_?)del
NC_000016.9:g.(?_9857006)_(10032428_?)del
NC_000016.9:g.(?_9857006)_(10274268_?)del
NC_000016.9:g.(?_9857006)_(9862956_?)del
NC_000016.9:g.(?_9857006)_(9892341_?)del
NC_000016.9:g.(?_9857612)_(9865030_?)del
NC_000016.9:g.(?_9862688)_(9862966_?)del
NC_000016.9:g.(?_9892114)_(10032428_?)del
NC_000016.9:g.(?_9916101)_(9923529_?)dup
NC_000016.9:g.(?_9916111)_(9916291_?)del
NC_000016.9:g.(?_9934484)_(9934981_?)del
NC_000016.9:g.(?_9984833)_(9984967_?)del
NC_000019.9:g.(?_50331686)_(50367680_?)del
NC_000019.9:g.(?_50364485)_(50370481_?)del
NC_000019.9:g.(?_50366993)_(50370363_?)del
NC_000020.10:g.(8094049_8094072)_(8580261_8580284)del
NC_000020.10:g.(?_7812350)_(10654278_?)del
NC_000020.10:g.(?_8113279)_(8352117_?)del
NC_000020.10:g.(?_8113299)_(8352117_?)del
NC_000020.10:g.(?_8608931)_(8639361_?)del
NC_000020.10:g.(?_8639165)_(8698515_?)del
NC_000020.10:g.(?_8696891)_(8698515_?)del
NC_000020.11:g.(?_63413450)_(63415126_?)del
NC_000021.8:g.(?_44836602)_(45629566_?)del
NC_000023.10:g.(?_17393861)_(18671684_?)del
NC_000023.10:g.(?_17393881)_(18525300_?)del
NC_000023.10:g.(?_17393881)_(20284750_?)del
NC_000023.10:g.(?_18525053)_(18525300_?)del
NC_000023.10:g.(?_18525053)_(18613568_?)del
NC_000023.10:g.(?_18525053)_(18622998_?)del
NC_000023.10:g.(?_18525053)_(18662765_?)del
NC_000023.10:g.(?_18525211)_(18528980_?)dup
NC_000023.10:g.(?_18534398)_(18600033_?)del
NC_000023.10:g.(?_18582577)_(18598108_?)del
NC_000023.10:g.(?_18582577)_(18646727_?)del
NC_000023.10:g.(?_18582587)_(18627700_?)dup
NC_000023.10:g.(?_18582587)_(18690188_?)del
NC_000023.10:g.(?_18593454)_(18598108_?)del
NC_000023.10:g.(?_18593454)_(18690188_?)del
NC_000023.10:g.(?_18626911)_(18643387_?)del
NC_000023.10:g.(?_24483573)_(25033854_?)del
NC_000023.11:g.(?_18506933)_(18510874_?)del
NC_000023.11:g.(?_18506933)_(18604888_?)del
NC_000023.11:g.(?_18506933)_(18653564_?)del
NC_000023.11:g.(?_18564457)_(18581970_?)del
NC_000023.11:g.(?_18595328)_(18595448_?)del
NC_000023.11:g.(?_18628351)_(18628607_?)del
NC_000023.11:g.18419574_18504791del
NC_000023.11:g.18598477_18598478insTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTACTGAAGTTGG
NG_054747.1:g.(19392_19426)TTTTA[(7_?)]TTTCA[(n)]
NM_000197.2(HSD17B3):c.139A>G (p.Met47Val)
NM_000726.5(CACNB4):c.610del (p.Gln204fs)	rs1057518688
NM_000746.6(CHRNA7):c.241-1G>A	rs1566846736
NM_000814.6(GABRB3):c.1054del (p.Asp352fs)	rs1889959221
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
NM_000814.6(GABRB3):c.172+1del	rs1891185645
NM_000814.6(GABRB3):c.238A>C (p.Met80Leu)
NM_000814.6(GABRB3):c.288G>T (p.Arg96Ser)	rs2140537271
NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter)	rs942355738
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn)	rs886037938
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe)	rs1057519550
NM_000814.6(GABRB3):c.374del (p.Asn125fs)	rs2140536988
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg)	rs1057519201
NM_000814.6(GABRB3):c.405_406del (p.Val136fs)	rs2140536878
NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer)	rs1892476410
NM_000814.6(GABRB3):c.470C>T (p.Thr157Met)	rs2140737885
NM_000814.6(GABRB3):c.487A>G (p.Met163Val)	rs1060502666
NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter)	rs1060502665
NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe)	rs886037939
NM_000814.6(GABRB3):c.551A>G (p.Tyr184Cys)
NM_000814.6(GABRB3):c.554C>T (p.Thr185Ile)	rs1131691481
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter)	rs1555368345
NM_000814.6(GABRB3):c.675C>G (p.Phe225Leu)	rs201004195
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter)	rs1595445975
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln)	rs797045045
NM_000814.6(GABRB3):c.6G>A (p.Trp2Ter)
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys)	rs886037940
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr)	rs1890229008
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe)	rs1057519549
NM_000814.6(GABRB3):c.76C>T (p.Gln26Ter)
NM_000814.6(GABRB3):c.817G>A (p.Ala273Thr)
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile)	rs1595440448
NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile)	rs1555401440
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys)	rs1889966424
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg)	rs1889966043
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr)	rs886037941
NM_000814.6(GABRB3):c.923T>G (p.Met308Arg)	rs746425161
NM_000814.6(GABRB3):c.927C>A (p.Tyr309Ter)
NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg)
NM_000814.6(GABRB3):c.987C>G (p.Tyr329Ter)
NM_000834.5(GRIN2B):c.1011-1G>C
NM_000834.5(GRIN2B):c.1223T>C (p.Ile408Thr)
NM_000834.5(GRIN2B):c.1345G>T (p.Glu449Ter)	rs1555112186
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser)	rs886041295
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp)	rs1060499659
NM_000834.5(GRIN2B):c.1621A>G (p.Ser541Gly)
NM_000834.5(GRIN2B):c.1623C>A (p.Ser541Arg)
NM_000834.5(GRIN2B):c.1628G>A (p.Gly543Glu)	rs2136479365
NM_000834.5(GRIN2B):c.1664G>A (p.Ser555Asn)	rs1949369220
NM_000834.5(GRIN2B):c.1664G>C (p.Ser555Thr)
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)	rs1057519004
NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg)	rs1949368959
NM_000834.5(GRIN2B):c.1821G>A (p.Trp607Ter)	rs1057518700
NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val)	rs1555110843
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile)	rs672601377
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly)	rs672601376
NM_000834.5(GRIN2B):c.1928T>C (p.Leu643Pro)	rs2136470302
NM_000834.5(GRIN2B):c.1966C>T (p.Gln656Ter)	rs1135401799
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn)	rs876661151
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His)	rs886041095
NM_000834.5(GRIN2B):c.2053A>C (p.Thr685Pro)	rs869312669
NM_000834.5(GRIN2B):c.2056G>A (p.Val686Met)	rs2136415913
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His)	rs1555103971
NM_000834.5(GRIN2B):c.2150C>T (p.Ala717Val)	rs2136415648
NM_000834.5(GRIN2B):c.2216T>C (p.Met739Thr)	rs1555103652
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr)	rs876661055
NM_000834.5(GRIN2B):c.2352_2359+2dup
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro)	rs1948653017
NM_000834.5(GRIN2B):c.2410G>A (p.Glu804Lys)	rs1555103172
NM_000834.5(GRIN2B):c.2434C>T (p.Gln812Ter)	rs1555103165
NM_000834.5(GRIN2B):c.2437C>G (p.Leu813Val)	rs1948652423
NM_000834.5(GRIN2B):c.2453T>C (p.Met818Thr)	rs879254016
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr)	rs1948652117
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu)	rs797044849
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)	rs797044849
NM_000834.5(GRIN2B):c.2480C>A (p.Ala827Glu)	rs748075089
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter)	rs879253931
NM_000834.5(GRIN2B):c.2560del (p.Cys854fs)
NM_000834.5(GRIN2B):c.2755C>T (p.Gln919Ter)	rs1555102548
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His)	rs876661167
NM_000834.5(GRIN2B):c.3789_3837dup (p.Lys1280delinsGlyProAlaGlyCysProSerGlyGlyAspValLysArgLeuHisHisTer)	rs2136403635
NM_001003787.4(STRADA):c.179G>T (p.Ser60Ile)	rs56271007
NM_001003787.4(STRADA):c.190C>T (p.Pro64Ser)	rs55695051
NM_001003787.4(STRADA):c.403G>A (p.Ala135Thr)	rs1555699052
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	rs786205598
NM_001040142.2(SCN2A):c.1019dup (p.Asn340fs)	rs1697464755
NM_001040142.2(SCN2A):c.1030del (p.Ala344fs)
NM_001040142.2(SCN2A):c.1078C>T (p.Pro360Ser)	rs1574566768
NM_001040142.2(SCN2A):c.1086T>A (p.Tyr362Ter)
NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu)	rs796053178
NM_001040142.2(SCN2A):c.1147C>T (p.Gln383Ter)	rs796053178
NM_001040142.2(SCN2A):c.1184G>A (p.Arg395His)
NM_001040142.2(SCN2A):c.1198dup (p.Thr400fs)	rs1553568927
NM_001040142.2(SCN2A):c.122del (p.Arg41fs)
NM_001040142.2(SCN2A):c.1242C>G (p.Phe414Leu)	rs2105255869
NM_001040142.2(SCN2A):c.1261T>G (p.Leu421Val)	rs2105255913
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu)	rs796053180
NM_001040142.2(SCN2A):c.1267G>T (p.Val423Leu)	rs796053180
NM_001040142.2(SCN2A):c.1270G>A (p.Val424Met)	rs1574567728
NM_001040142.2(SCN2A):c.1271T>G (p.Val424Gly)	rs796053181
NM_001040142.2(SCN2A):c.1288G>A (p.Glu430Lys)	rs1553568990
NM_001040142.2(SCN2A):c.1291C>T (p.Gln431Ter)
NM_001040142.2(SCN2A):c.1307T>C (p.Leu436Ser)	rs1553569010
NM_001040142.2(SCN2A):c.1312G>A (p.Glu438Lys)	rs796053184
NM_001040142.2(SCN2A):c.1312G>C (p.Glu438Gln)	rs796053184
NM_001040142.2(SCN2A):c.1342C>T (p.Gln448Ter)	rs1553569054
NM_001040142.2(SCN2A):c.1360A>T (p.Lys454Ter)
NM_001040142.2(SCN2A):c.1363A>T (p.Lys455Ter)	rs1553569087
NM_001040142.2(SCN2A):c.1486A>T (p.Lys496Ter)
NM_001040142.2(SCN2A):c.1497del (p.Glu500fs)	rs2105259788
NM_001040142.2(SCN2A):c.1508del (p.Asn503fs)
NM_001040142.2(SCN2A):c.1508dup (p.Asn503fs)
NM_001040142.2(SCN2A):c.1530_1531del (p.Lys511fs)	rs1697702086
NM_001040142.2(SCN2A):c.1533_1536del (p.Lys511fs)	rs1553569662
NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter)	rs1553569754
NM_001040142.2(SCN2A):c.1600A>T (p.Arg534Ter)
NM_001040142.2(SCN2A):c.1687del (p.Arg563fs)
NM_001040142.2(SCN2A):c.1737C>G (p.Ser579Arg)	rs2105276771
NM_001040142.2(SCN2A):c.1747C>T (p.Arg583Ter)	rs1553571901
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)	rs746060762
NM_001040142.2(SCN2A):c.1819_1831del (p.Arg607fs)	rs2105276912
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs)	rs1698166561
NM_001040142.2(SCN2A):c.1976dup (p.Ser661fs)
NM_001040142.2(SCN2A):c.2150-2A>G	rs2105293230
NM_001040142.2(SCN2A):c.2164del (p.Arg722fs)
NM_001040142.2(SCN2A):c.2182T>C (p.Cys728Arg)	rs1553574522
NM_001040142.2(SCN2A):c.2187G>A (p.Trp729Ter)
NM_001040142.2(SCN2A):c.2190T>A (p.Tyr730Ter)	rs2105293298
NM_001040142.2(SCN2A):c.2197G>A (p.Ala733Thr)
NM_001040142.2(SCN2A):c.2242del (p.Lys747_Val748insTer)
NM_001040142.2(SCN2A):c.2343T>G (p.Tyr781Ter)
NM_001040142.2(SCN2A):c.2473_2474del (p.Ile825fs)
NM_001040142.2(SCN2A):c.2480A>G (p.Asp827Gly)	rs796053112
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)	rs1553578503
NM_001040142.2(SCN2A):c.2552C>A (p.Ser851Ter)
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	rs794727152
NM_001040142.2(SCN2A):c.2558G>C (p.Arg853Pro)	rs794727152
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)	rs1553579225
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln)	rs797045942
NM_001040142.2(SCN2A):c.2592G>A (p.Trp864Ter)
NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser)	rs1553579282
NM_001040142.2(SCN2A):c.2634_2635delinsTC (p.Gly879Arg)
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr)	rs1574641522
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu)	rs1574641605
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)	rs121917751
NM_001040142.2(SCN2A):c.2711del (p.Gly904fs)
NM_001040142.2(SCN2A):c.2734_2735insTTGTGTCT (p.Cys912fs)	rs1699481130
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr)	rs1057518373
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys)	rs796053197
NM_001040142.2(SCN2A):c.2854G>T (p.Glu952Ter)	rs1553579543
NM_001040142.2(SCN2A):c.2870C>A (p.Thr957Asn)	rs2105319167
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val)	rs2105319172
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter)	rs746163041
NM_001040142.2(SCN2A):c.2928C>A (p.Asn976Lys)	rs2105336790
NM_001040142.2(SCN2A):c.2936T>C (p.Leu979Ser)
NM_001040142.2(SCN2A):c.2948T>G (p.Leu983Trp)	rs1553583560
NM_001040142.2(SCN2A):c.2970T>A (p.Asn990Lys)
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)	rs796053126
NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile)	rs121917754
NM_001040142.2(SCN2A):c.3036del (p.Gly1013fs)	rs1553583659
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)	rs387906683
NM_001040142.2(SCN2A):c.3067G>T (p.Glu1023Ter)	rs1397215259
NM_001040142.2(SCN2A):c.3209dup (p.Asp1070fs)	rs2105337298
NM_001040142.2(SCN2A):c.3211G>T (p.Gly1071Ter)
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs)	rs587780450
NM_001040142.2(SCN2A):c.3399+1del	rs2105337639
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)	rs200138205
NM_001040142.2(SCN2A):c.3551_3558del (p.Ile1184fs)
NM_001040142.2(SCN2A):c.3579_3580del (p.Trp1194fs)	rs1553590192
NM_001040142.2(SCN2A):c.3582G>A (p.Trp1194Ter)
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)	rs387906684
NM_001040142.2(SCN2A):c.3782G>A (p.Trp1261Ter)	rs1553591818
NM_001040142.2(SCN2A):c.3802dup (p.Val1268fs)	rs2105365318
NM_001040142.2(SCN2A):c.3843T>G (p.Ile1281Met)
NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs)	rs1701138696
NM_001040142.2(SCN2A):c.3915del (p.Arg1306fs)
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp)	rs190111194
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe)	rs121917749
NM_001040142.2(SCN2A):c.3997G>A (p.Ala1333Thr)	rs796053132
NM_001040142.2(SCN2A):c.3997G>T (p.Ala1333Ser)	rs796053132
NM_001040142.2(SCN2A):c.399_400dup (p.Leu134fs)
NM_001040142.2(SCN2A):c.4015A>G (p.Asn1339Asp)	rs2105373027
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro)	rs796053134
NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val)	rs796053135
NM_001040142.2(SCN2A):c.4061T>C (p.Met1354Thr)	rs1553593676
NM_001040142.2(SCN2A):c.407T>G (p.Met136Arg)
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile)	rs1697221269
NM_001040142.2(SCN2A):c.4141_4142insGTGCACGCTT (p.Asn1381fs)
NM_001040142.2(SCN2A):c.4156T>G (p.Cys1386Gly)	rs794727364
NM_001040142.2(SCN2A):c.4270dup (p.Trp1424fs)	rs1553461662
NM_001040142.2(SCN2A):c.4272G>A (p.Trp1424Ter)
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)	rs796053138
NM_001040142.2(SCN2A):c.4316T>G (p.Leu1439Ter)	rs2105384553
NM_001040142.2(SCN2A):c.4350T>G (p.Tyr1450Ter)	rs1574731232
NM_001040142.2(SCN2A):c.4364T>A (p.Ile1455Asn)	rs2105384629
NM_001040142.2(SCN2A):c.4377T>G (p.Phe1459Leu)
NM_001040142.2(SCN2A):c.4389dup (p.Thr1464fs)	rs1701553164
NM_001040142.2(SCN2A):c.4425C>G (p.Asn1475Lys)
NM_001040142.2(SCN2A):c.4432C>A (p.Gln1478Lys)	rs1553462132
NM_001040142.2(SCN2A):c.4432C>G (p.Gln1478Glu)	rs1553462132
NM_001040142.2(SCN2A):c.4437del (p.Lys1481fs)
NM_001040142.2(SCN2A):c.4446+9A>G	rs796053140
NM_001040142.2(SCN2A):c.4451_4454del (p.Gly1484fs)
NM_001040142.2(SCN2A):c.4468A>G (p.Met1490Val)	rs869312663
NM_001040142.2(SCN2A):c.4498G>A (p.Ala1500Thr)	rs2105385811
NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr)	rs1553462227
NM_001040142.2(SCN2A):c.4517C>G (p.Ser1506Ter)	rs1287017958
NM_001040142.2(SCN2A):c.4523A>T (p.Lys1508Ile)	rs2105385886
NM_001040142.2(SCN2A):c.4533dup (p.Pro1512fs)	rs2105385903
NM_001040142.2(SCN2A):c.4543C>T (p.Arg1515Ter)	rs1365774406
NM_001040142.2(SCN2A):c.4544G>A (p.Arg1515Gln)
NM_001040142.2(SCN2A):c.4551+1G>A	rs527688117
NM_001040142.2(SCN2A):c.4575del (p.Phe1525fs)
NM_001040142.2(SCN2A):c.4610T>C (p.Ile1537Thr)	rs1553463038
NM_001040142.2(SCN2A):c.4633A>G (p.Met1545Val)	rs796053150
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val)	rs121917750
NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr)	rs2105398463
NM_001040142.2(SCN2A):c.4745T>C (p.Leu1582Pro)	rs1701905156
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys)	rs1553463119
NM_001040142.2(SCN2A):c.4769T>C (p.Phe1590Ser)	rs544310562
NM_001040142.2(SCN2A):c.4787T>G (p.Ile1596Ser)	rs2105398613
NM_001040142.2(SCN2A):c.4822+1G>T
NM_001040142.2(SCN2A):c.4835C>G (p.Ala1612Gly)	rs2105402019
NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs)	rs1574751309
NM_001040142.2(SCN2A):c.4864C>T (p.Pro1622Ser)
NM_001040142.2(SCN2A):c.4868C>A (p.Thr1623Asn)	rs1702001950
NM_001040142.2(SCN2A):c.4871T>C (p.Leu1624Pro)
NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter)	rs1060503102
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln)	rs796053155
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met)	rs796053156
NM_001040142.2(SCN2A):c.4885C>G (p.Arg1629Gly)	rs1702003567
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4886G>C (p.Arg1629Pro)
NM_001040142.2(SCN2A):c.4886G>T (p.Arg1629Leu)	rs796053157
NM_001040142.2(SCN2A):c.4901G>T (p.Gly1634Val)	rs1553463427
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln)	rs1057520844
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro)	rs1702006258
NM_001040142.2(SCN2A):c.4928C>A (p.Ala1643Glu)
NM_001040142.2(SCN2A):c.4948C>A (p.Leu1650Ile)	rs1702008323
NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser)	rs1702009188
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)	rs1060503101
NM_001040142.2(SCN2A):c.5018T>C (p.Ile1673Thr)
NM_001040142.2(SCN2A):c.507del (p.Glu169fs)	rs1574554892
NM_001040142.2(SCN2A):c.5125del (p.Gln1709fs)	rs1553463516
NM_001040142.2(SCN2A):c.5132C>G (p.Thr1711Arg)
NM_001040142.2(SCN2A):c.5144G>T (p.Gly1715Val)	rs1702015681
NM_001040142.2(SCN2A):c.5144_5153del (p.Gly1715fs)	rs2105402593
NM_001040142.2(SCN2A):c.5198del (p.Pro1733fs)	rs2105402711
NM_001040142.2(SCN2A):c.5268dup (p.Val1757fs)
NM_001040142.2(SCN2A):c.5316del (p.Ile1772fs)	rs1558886168
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	rs796053162
NM_001040142.2(SCN2A):c.5407G>T (p.Glu1803Ter)
NM_001040142.2(SCN2A):c.5431C>G (p.Gln1811Glu)	rs1553463649
NM_001040142.2(SCN2A):c.5558A>G (p.His1853Arg)	rs2105403389
NM_001040142.2(SCN2A):c.5563C>A (p.Leu1855Ile)	rs2105403397
NM_001040142.2(SCN2A):c.5640A>C (p.Glu1880Asp)	rs2105403544
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly)	rs796053166
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)	rs794727444
NM_001040142.2(SCN2A):c.573G>T (p.Trp191Cys)	rs1553567381
NM_001040142.2(SCN2A):c.579G>A (p.Trp193Ter)	rs748656792
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605+1G>C
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp)	rs1697311700
NM_001040142.2(SCN2A):c.634A>G (p.Asn212Asp)	rs2105244906
NM_001040142.2(SCN2A):c.640T>C (p.Ser214Pro)	rs1057517854
NM_001040142.2(SCN2A):c.647T>G (p.Leu216Trp)	rs796053203
NM_001040142.2(SCN2A):c.658A>G (p.Arg220Gly)	rs1559352550
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)	rs121917752
NM_001040142.2(SCN2A):c.707C>G (p.Thr236Ser)	rs2105247122
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser)	rs1064795014
NM_001040142.2(SCN2A):c.718del (p.Ala240fs)	rs2105247156
NM_001040142.2(SCN2A):c.752T>C (p.Val251Ala)	rs2105247262
NM_001040142.2(SCN2A):c.754A>G (p.Met252Val)	rs387906687
NM_001040142.2(SCN2A):c.773_776del (p.Phe257_Cys258insTer)	rs2105247288
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)	rs1057520413
NM_001040142.2(SCN2A):c.787G>A (p.Ala263Thr)	rs1697364931
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	rs387906686
NM_001040142.2(SCN2A):c.7C>T (p.Gln3Ter)	rs1553564141
NM_001040142.2(SCN2A):c.807G>T (p.Leu269Phe)	rs2105247416
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter)	rs181327458
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
NM_001040142.2(SCN2A):c.851A>G (p.Asp284Gly)	rs796053173
NM_001040142.2(SCN2A):c.860_863dup (p.Glu289fs)
NM_001040142.2(SCN2A):c.962_970+1del	rs1559353540
NM_001040142.2(SCN2A):c.986dup (p.Leu329fs)	rs2105251438
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401
NM_001127644.2(GABRA1):c.1059+2T>C	rs1755341108
NM_001127644.2(GABRA1):c.1070_1074del (p.Val357fs)
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu)	rs1064796448
NM_001127644.2(GABRA1):c.275T>C (p.Phe92Ser)	rs2113380903
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly)	rs1754197638
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)	rs587777308
NM_001127644.2(GABRA1):c.365G>A (p.Trp122Ter)
NM_001127644.2(GABRA1):c.559T>G (p.Tyr187Asp)	rs2113389254
NM_001127644.2(GABRA1):c.560-95_598del
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)	rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)	rs886039373
NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser)	rs587777307
NM_001127644.2(GABRA1):c.755A>G (p.Tyr252Cys)	rs2113446442
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly)	rs1755063375
NM_001127644.2(GABRA1):c.813del (p.Phe272fs)	rs2113446665
NM_001127644.2(GABRA1):c.830A>G (p.Glu277Gly)
NM_001127644.2(GABRA1):c.839C>A (p.Pro280Gln)
NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile)	rs1755330256
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala)	rs189199636
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs)	rs1561587715
NM_001127644.2(GABRA1):c.875C>T (p.Thr292Ile)
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg)	rs796052495
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu)	rs1755333582
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter)	rs769743354
NM_001127644.2(GABRA1):c.975C>A (p.Phe325Leu)	rs2113464798
NM_001127644.2(GABRA1):c.978_982del (p.Ala327fs)
NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro)	rs1856116625
NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr)	rs1564286708
NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser)	rs1554759745
NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter)	rs1856640613
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)	rs1858669268
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del)	rs398122865
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)	rs587784438
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)	rs1859859572
NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser)	rs1441152520
NM_001130438.3(SPTAN1):c.6896_6904del (p.Trp2299_Gln2301del)
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])	rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])	rs587784440
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup)	rs2132089818
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)	rs796053335
NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe)	rs2132106592
NM_001130438.3:c.(?_1225)_(1572_?)del
NM_001134407.3(GRIN2A):c.1007+1G>A	rs397518465
NM_001134407.3(GRIN2A):c.1007+1G>T	rs397518465
NM_001134407.3(GRIN2A):c.1045_1051del (p.Ser349fs)
NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs)	rs2043685576
NM_001134407.3(GRIN2A):c.1115G>A (p.Trp372Ter)	rs1555501093
NM_001134407.3(GRIN2A):c.1123-1G>A	rs2042854251
NM_001134407.3(GRIN2A):c.1123-2A>G	rs397518469
NM_001134407.3(GRIN2A):c.1123-2A>T
NM_001134407.3(GRIN2A):c.1134G>A (p.Trp378Ter)	rs1555496202
NM_001134407.3(GRIN2A):c.1194del (p.Cys399fs)	rs2141369731
NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs)	rs2042851617
NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs)	rs2042850660
NM_001134407.3(GRIN2A):c.1285T>C (p.Cys429Arg)
NM_001134407.3(GRIN2A):c.1289_1292dup (p.Arg431fs)
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg)	rs1555496111
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1425C>G (p.Tyr475Ter)	rs774228933
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg)	rs2042667149
NM_001134407.3(GRIN2A):c.1475_1478del (p.Val492fs)
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)	rs757713617
NM_001134407.3(GRIN2A):c.1497+1G>T	rs2141344569
NM_001134407.3(GRIN2A):c.1497+2T>C	rs2042665950
NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs)
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu)	rs267604688
NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter)	rs1555494686
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)	rs397518470
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu)	rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)	rs397518468
NM_001134407.3(GRIN2A):c.1639T>C (p.Ser547Pro)
NM_001134407.3(GRIN2A):c.1639_1641del (p.Ser547del)	rs1555494676
NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer)	rs1596483044
NM_001134407.3(GRIN2A):c.1651+2T>A	rs2141341781
NM_001134407.3(GRIN2A):c.1651G>T (p.Glu551Ter)
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg)	rs397518450
NM_001134407.3(GRIN2A):c.1661G>C (p.Ser554Thr)
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg)	rs1596476657
NM_001134407.3(GRIN2A):c.1673G>C (p.Trp558Ser)	rs1555493585
NM_001134407.3(GRIN2A):c.1691T>G (p.Met564Arg)	rs2141325573
NM_001134407.3(GRIN2A):c.1702del (p.Val568fs)	rs2141325493
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter)	rs143833346
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter)	rs1060503228
NM_001134407.3(GRIN2A):c.1747G>T (p.Gly583Ter)
NM_001134407.3(GRIN2A):c.1790del (p.Pro597fs)
NM_001134407.3(GRIN2A):c.1827G>A (p.Trp609Ter)	rs1555492790
NM_001134407.3(GRIN2A):c.1831C>A (p.Leu611Met)	rs2141312814
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)	rs869312916
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys)	rs397518447
NM_001134407.3(GRIN2A):c.1847C>T (p.Ser616Phe)
NM_001134407.3(GRIN2A):c.1871_1884del (p.Gly624fs)
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter)	rs1555492769
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala)	rs1555492758
NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser)	rs2042447850
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val)	rs397514557
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val)	rs397518471
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr)	rs2042447540
NM_001134407.3(GRIN2A):c.2008-1G>A
NM_001134407.3(GRIN2A):c.2023_2027del (p.Asp675fs)
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)	rs397518472
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys)	rs1445802934
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)	rs1445802934
NM_001134407.3(GRIN2A):c.2079C>G (p.Asn693Lys)
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr)	rs2141294911
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)	rs1555491654
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser)	rs1555491648
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2169-1G>C	rs2141231277
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr)	rs1555488144
NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys)	rs1903138230
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn)	rs796052549
NM_001134407.3(GRIN2A):c.2200G>C (p.Val734Leu)	rs1439688451
NM_001134407.3(GRIN2A):c.2224del (p.Asp742fs)
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser)	rs1555488119
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr)	rs776791010
NM_001134407.3(GRIN2A):c.2346_2356+8del	rs1064795143
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg)	rs1250662891
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)	rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)	rs751455326
NM_001134407.3(GRIN2A):c.2526C>G (p.Tyr842Ter)
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
NM_001134407.3(GRIN2A):c.2710A>T (p.Ile904Phe)	rs1555482933
NM_001134407.3(GRIN2A):c.2776del (p.Gln926fs)	rs1596377481
NM_001134407.3(GRIN2A):c.2793del (p.Met932fs)	rs1596377439
NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter)	rs397518467
NM_001134407.3(GRIN2A):c.2833_2834insTTCAG (p.Asp945fs)	rs2141136701
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)	rs397518466
NM_001134407.3(GRIN2A):c.3025A>T (p.Arg1009Ter)
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter)	rs1306036000
NM_001134407.3(GRIN2A):c.3163del (p.Glu1055fs)
NM_001134407.3(GRIN2A):c.316C>T (p.Gln106Ter)
NM_001134407.3(GRIN2A):c.3304G>T (p.Glu1102Ter)
NM_001134407.3(GRIN2A):c.3609del (p.Ser1204fs)
NM_001134407.3(GRIN2A):c.3693dup (p.Ser1232fs)	rs2141130040
NM_001134407.3(GRIN2A):c.3887del (p.Val1296fs)	rs1900702353
NM_001134407.3(GRIN2A):c.4320del (p.Thr1441fs)	rs2141124790
NM_001134407.3(GRIN2A):c.4330del (p.Val1444fs)
NM_001134407.3(GRIN2A):c.460C>T (p.Gln154Ter)	rs1555455815
NM_001134407.3(GRIN2A):c.476del (p.Leu159fs)
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter)	rs1057524089
NM_001134407.3(GRIN2A):c.50_54del (p.Val17fs)	rs2050242587
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs)	rs1596587476
NM_001134407.3(GRIN2A):c.593G>A (p.Trp198Ter)	rs1555455727
NM_001134407.3(GRIN2A):c.59_66del (p.Gly20fs)
NM_001134407.3(GRIN2A):c.645del (p.Gln216fs)	rs2141631751
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter)	rs387906637
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr)	rs1238779318
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs)	rs2044762657
NM_001134407.3(GRIN2A):c.806del (p.Pro269fs)
NM_001134407.3(GRIN2A):c.809_810del (p.Lys270fs)
NM_001134407.3(GRIN2A):c.812_813del (p.Glu271fs)	rs2141630590
NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter)	rs1555455620
NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter)	rs1555455618
NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs)	rs1555491538
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs)	rs2105983330
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	rs794726730
NM_001191061.2(SLC25A22):c.271C>T (p.Arg91Ter)	rs936639741
NM_001191061.2(SLC25A22):c.328G>C (p.Gly110Arg)	rs587777243
NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter)	rs797045969
NM_001191061.2(SLC25A22):c.706G>T (p.Gly236Trp)	rs121918335
NM_001191061.2(SLC25A22):c.813_814del (p.Ala272fs)	rs1565035177
NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys)	rs1195505218
NM_001199107.2(TBC1D24):c.1078del (p.Arg360fs)
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter)	rs1567413218
NM_001199107.2(TBC1D24):c.1141dup (p.Arg381fs)	rs1205407936
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter)	rs2065771024
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro)	rs770363653
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)	rs773916549
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His)	rs760474458
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)	rs1057524191
NM_001199107.2(TBC1D24):c.1306C>T (p.Gln436Ter)
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter)	rs1567411053
NM_001199107.2(TBC1D24):c.132G>A (p.Trp44Ter)
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs)	rs1292551263
NM_001199107.2(TBC1D24):c.1384G>T (p.Glu462Ter)
NM_001199107.2(TBC1D24):c.1397del (p.Pro466fs)	rs2141877166
NM_001199107.2(TBC1D24):c.1402_1409dup (p.Ser472fs)
NM_001199107.2(TBC1D24):c.1488del (p.Met497fs)
NM_001199107.2(TBC1D24):c.1505dup (p.Ser503fs)
NM_001199107.2(TBC1D24):c.1540C>T (p.Gln514Ter)	rs746057710
NM_001199107.2(TBC1D24):c.1574del (p.Gly525fs)
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp)	rs1060502501
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer)	rs1555501140
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])	rs761918906
NM_001199107.2(TBC1D24):c.270_286del (p.Pro91fs)
NM_001199107.2(TBC1D24):c.309dup (p.Tyr104fs)
NM_001199107.2(TBC1D24):c.337dup (p.Ala113fs)
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His)	rs267607103
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter)	rs763626059
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter)	rs397514714
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs)	rs796053403
NM_001199107.2(TBC1D24):c.540C>A (p.Cys180Ter)
NM_001199107.2(TBC1D24):c.56del (p.Ile19fs)	rs2141870681
NM_001199107.2(TBC1D24):c.636G>A (p.Trp212Ter)	rs2141872114
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)	rs2141872119
NM_001199107.2(TBC1D24):c.668_669delinsAA (p.Cys223Ter)
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)	rs397514713
NM_001199107.2(TBC1D24):c.715del (p.Val239fs)	rs2141872348
NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu)	rs267607104
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs)	rs766769998
NM_001199107.2(TBC1D24):c.806del (p.Ile269fs)	rs2141872499
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)	rs1555501320
NM_001199107.2(TBC1D24):c.979A>T (p.Lys327Ter)	rs2065755770
NM_001242896.3(DEPDC5):c.2492_2493insAGA (p.Ser831delinsArgAsp)	rs1555897392
NM_001242896.3(DEPDC5):c.3444del (p.Ile1148fs)	rs886039266
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly)	rs886039280
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu)	rs187334123
NM_001271.4(CHD2):c.1011dup (p.Leu338fs)
NM_001271.4(CHD2):c.1032dup (p.Glu345fs)	rs2053406905
NM_001271.4(CHD2):c.1052+2T>C	rs2141787733
NM_001271.4(CHD2):c.1053G>A (p.Trp351Ter)	rs1555439714
NM_001271.4(CHD2):c.1081G>T (p.Glu361Ter)	rs1555439719
NM_001271.4(CHD2):c.1096C>T (p.Gln366Ter)
NM_001271.4(CHD2):c.1099C>T (p.Gln367Ter)	rs2053431103
NM_001271.4(CHD2):c.1135_1138del (p.Gln378_Ile379insTer)	rs1567136357
NM_001271.4(CHD2):c.1153+3_1153+19del	rs2141791104
NM_001271.4(CHD2):c.1196del (p.Pro399fs)
NM_001271.4(CHD2):c.11_14del (p.Asn4fs)
NM_001271.4(CHD2):c.121del (p.Gln41fs)
NM_001271.4(CHD2):c.1311_1318del (p.Phe437fs)
NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA (p.Leu461delinsGlnValTer)	rs1567138270
NM_001271.4(CHD2):c.1387C>T (p.Gln463Ter)	rs2141802487
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter)	rs398123000
NM_001271.4(CHD2):c.1430del (p.Tyr476_Leu477insTer)
NM_001271.4(CHD2):c.1453C>T (p.Arg485Ter)	rs1567138301
NM_001271.4(CHD2):c.1497del (p.Trp499fs)	rs2141802578
NM_001271.4(CHD2):c.149G>A (p.Gly50Asp)	rs1555437424
NM_001271.4(CHD2):c.1504_1505delAA (p.Lys501_Asn502insTer)
NM_001271.4(CHD2):c.1541dup (p.Thr516fs)	rs2053579191
NM_001271.4(CHD2):c.1552del (p.Gln518fs)	rs869312705
NM_001271.4(CHD2):c.1575C>A (p.Tyr525Ter)
NM_001271.4(CHD2):c.1637_1638del (p.Thr546fs)	rs2141811616
NM_001271.4(CHD2):c.1645C>T (p.Gln549Ter)
NM_001271.4(CHD2):c.1650_1653del (p.Arg550fs)	rs886041628
NM_001271.4(CHD2):c.1719G>A (p.Thr573=)	rs1057519228
NM_001271.4(CHD2):c.1754_1785del (p.Lys585fs)	rs2053606835
NM_001271.4(CHD2):c.1787_1788del (p.Thr595_Tyr596insTer)	rs2141814886
NM_001271.4(CHD2):c.1809+1del	rs397514739
NM_001271.4(CHD2):c.1810-2A>C	rs398122999
NM_001271.4(CHD2):c.1814_1815del (p.Val605fs)	rs2141816511
NM_001271.4(CHD2):c.1833G>A (p.Trp611Ter)	rs2141816525
NM_001271.4(CHD2):c.1858del (p.His620fs)
NM_001271.4(CHD2):c.1861C>T (p.Arg621Trp)	rs1064795815
NM_001271.4(CHD2):c.1880_1883del (p.Ser627fs)	rs2141816549
NM_001271.4(CHD2):c.1883T>G (p.Leu628Ter)	rs1555440885
NM_001271.4(CHD2):c.1883del (p.Leu628fs)	rs2141816557
NM_001271.4(CHD2):c.188_191del (p.Gln63fs)
NM_001271.4(CHD2):c.1894dup (p.Thr632fs)	rs2053619207
NM_001271.4(CHD2):c.1897_1898del (p.Leu633fs)	rs2053619257
NM_001271.4(CHD2):c.1903_1906del (p.Asp635fs)
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)	rs2053619460
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu)	rs1567141162
NM_001271.4(CHD2):c.1968_1969dup (p.Trp657fs)
NM_001271.4(CHD2):c.2013G>A (p.Trp671Ter)
NM_001271.4(CHD2):c.2032dup (p.His678fs)
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2134A>G (p.Lys712Glu)
NM_001271.4(CHD2):c.2211C>A (p.Tyr737Ter)
NM_001271.4(CHD2):c.2288_2291del (p.Asn763fs)
NM_001271.4(CHD2):c.2324_2328del (p.Glu775fs)
NM_001271.4(CHD2):c.2341dup (p.Glu781fs)
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter)	rs146691368
NM_001271.4(CHD2):c.2536C>G (p.Arg846Gly)	rs2141839141
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter)	rs2141839141
NM_001271.4(CHD2):c.2587_2591del (p.Phe863fs)	rs2141843174
NM_001271.4(CHD2):c.2597C>A (p.Ser866Ter)	rs1085308000
NM_001271.4(CHD2):c.2648dup (p.Ile884fs)
NM_001271.4(CHD2):c.2686C>G (p.Gln896Glu)	rs2141843235
NM_001271.4(CHD2):c.2698C>G (p.Arg900Gly)	rs1567149943
NM_001271.4(CHD2):c.2698C>T (p.Arg900Ter)	rs1567149943
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)	rs1567149946
NM_001271.4(CHD2):c.2705A>G (p.His902Arg)	rs2053935622
NM_001271.4(CHD2):c.2739C>A (p.Tyr913Ter)
NM_001271.4(CHD2):c.2759C>T (p.Thr920Ile)	rs2141844210
NM_001271.4(CHD2):c.2765dup (p.Glu923fs)	rs1555442886
NM_001271.4(CHD2):c.2767dup (p.Glu923fs)	rs2141844219
NM_001271.4(CHD2):c.2785_2801delinsTG (p.Ala929_Val934delinsTer)	rs1555442889
NM_001271.4(CHD2):c.2821C>T (p.Gln941Ter)	rs2141844243
NM_001271.4(CHD2):c.2826_2827insTGGC (p.Met943fs)	rs2141844251
NM_001271.4(CHD2):c.2849_2855del (p.Ile950fs)
NM_001271.4(CHD2):c.2864C>G (p.Ser955Ter)
NM_001271.4(CHD2):c.2882del (p.Asn961fs)
NM_001271.4(CHD2):c.2888_2889insAT (p.Phe963fs)	rs2141846356
NM_001271.4(CHD2):c.2899dup (p.Glu967fs)
NM_001271.4(CHD2):c.294+3A>G	rs2141746246
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer)	rs1064796496
NM_001271.4(CHD2):c.3063dup (p.Lys1022Ter)
NM_001271.4(CHD2):c.3100G>T (p.Glu1034Ter)	rs2141850583
NM_001271.4(CHD2):c.3106G>T (p.Glu1036Ter)
NM_001271.4(CHD2):c.3128G>A (p.Trp1043Ter)
NM_001271.4(CHD2):c.3156dup (p.Lys1053fs)
NM_001271.4(CHD2):c.3171_3172del (p.Glu1058fs)	rs2054015565
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter)	rs1596436494
NM_001271.4(CHD2):c.3199dup (p.Ile1067fs)
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter)	rs767106034
NM_001271.4(CHD2):c.3266_3271delinsGTGACTCTGA (p.Thr1089fs)	rs2141851950
NM_001271.4(CHD2):c.3323_3324del (p.Asp1107_Ser1108insTer)	rs2141851983
NM_001271.4(CHD2):c.3349A>T (p.Arg1117Ter)	rs777803897
NM_001271.4(CHD2):c.3355_3356del (p.Arg1119fs)	rs2141852009
NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter)	rs773860345
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter)	rs1057518128
NM_001271.4(CHD2):c.3412del (p.Arg1138fs)	rs2141852057
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp)	rs1596443241
NM_001271.4(CHD2):c.3455G>A (p.Arg1152Gln)
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter)	rs397514740
NM_001271.4(CHD2):c.3638_3644delinsAAAATGCACAGAAATGTCATCAAGAGGTTAANNNNNNNNNNATGCATTTCCCCAGTAGATGGGTCCTTGTACACCAAGACTTTTTGTTCGTCTTTGTACCAGAGTTTAGCCAAAG (p.Ser1213_Val1215delinsTer)	rs2141867280
NM_001271.4(CHD2):c.3651del (p.Asn1218fs)
NM_001271.4(CHD2):c.3651dup (p.Asn1218Ter)
NM_001271.4(CHD2):c.3735del (p.Lys1245fs)	rs752940775
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs)	rs752940775
NM_001271.4(CHD2):c.3759del (p.Ala1254fs)
NM_001271.4(CHD2):c.3780dup (p.Trp1261fs)	rs2054200651
NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter)	rs1555444603
NM_001271.4(CHD2):c.3782G>C (p.Trp1261Ser)
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)	rs1555444603
NM_001271.4(CHD2):c.3787dup (p.Val1263fs)	rs869312877
NM_001271.4(CHD2):c.3830G>C (p.Gly1277Ala)
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter)	rs2054212444
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter)	rs1555444702
NM_001271.4(CHD2):c.3938G>A (p.Arg1313Gln)	rs1131692012
NM_001271.4(CHD2):c.3938G>C (p.Arg1313Pro)	rs1131692012
NM_001271.4(CHD2):c.3987_3988dup (p.Ala1330fs)
NM_001271.4(CHD2):c.4003G>T (p.Glu1335Ter)	rs1246923304
NM_001271.4(CHD2):c.4026dup (p.Lys1343fs)
NM_001271.4(CHD2):c.4106C>G (p.Ser1369Ter)	rs1567159145
NM_001271.4(CHD2):c.4170_4173del (p.Lys1390fs)	rs749969667
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs)	rs749969667
NM_001271.4(CHD2):c.4174C>T (p.Gln1392Ter)	rs3210462
NM_001271.4(CHD2):c.4176_4177del (p.Lys1393fs)	rs2141873663
NM_001271.4(CHD2):c.4184_4187del (p.Lys1395fs)	rs2141873672
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs)	rs864309543
NM_001271.4(CHD2):c.4304del (p.Ser1434_Ser1435insTer)	rs2141876515
NM_001271.4(CHD2):c.4318C>T (p.Arg1440Ter)
NM_001271.4(CHD2):c.443+3_443+6del	rs2141755356
NM_001271.4(CHD2):c.4492C>T (p.Gln1498Ter)
NM_001271.4(CHD2):c.4525del (p.Ile1509fs)
NM_001271.4(CHD2):c.4587G>A (p.Trp1529Ter)	rs2141881688
NM_001271.4(CHD2):c.462_470delinsGATGAACAGG (p.Pro155fs)
NM_001271.4(CHD2):c.4636C>T (p.Arg1546Ter)	rs1064796449
NM_001271.4(CHD2):c.4672_4676del (p.Lys1558fs)
NM_001271.4(CHD2):c.4724dup (p.Gly1575_Lys1576insTer)
NM_001271.4(CHD2):c.4761_4782del (p.Arg1588fs)
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs)	rs1555445685
NM_001271.4(CHD2):c.4793C>A (p.Ser1598Ter)
NM_001271.4(CHD2):c.4829C>T (p.Ala1610Val)	rs1555445693
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)	rs864309547
NM_001271.4(CHD2):c.4915dup (p.Asp1639fs)
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter)	rs864309548
NM_001271.4(CHD2):c.4949dup (p.Gly1651fs)	rs2054514265
NM_001271.4(CHD2):c.4968dup (p.Trp1657fs)	rs2054514589
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter)	rs398122998
NM_001271.4(CHD2):c.4987dup (p.His1663fs)
NM_001271.4(CHD2):c.5029dup (p.Asp1677fs)
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)	rs797044912
NM_001271.4(CHD2):c.5041_5042del (p.Met1681fs)	rs2141895289
NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter)	rs761127171
NM_001271.4(CHD2):c.5100T>G (p.Tyr1700Ter)	rs751251777
NM_001271.4(CHD2):c.5153+1G>T	rs761115271
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer)	rs748694853
NM_001271.4(CHD2):c.617del (p.Asp206fs)
NM_001271.4(CHD2):c.625del (p.Asp209fs)
NM_001271.4(CHD2):c.628G>T (p.Glu210Ter)	rs1567133726
NM_001271.4(CHD2):c.654dup (p.Lys219fs)	rs2141778479
NM_001271.4(CHD2):c.670C>T (p.Arg224Ter)	rs2053326002
NM_001271.4(CHD2):c.693-2A>G	rs886039708
NM_001271.4(CHD2):c.696C>A (p.Tyr232Ter)
NM_001271.4(CHD2):c.709_713dup (p.Phe238fs)
NM_001271.4(CHD2):c.739G>T (p.Glu247Ter)	rs1567135138
NM_001271.4(CHD2):c.747_748del (p.Gly250fs)	rs2053387971
NM_001271.4(CHD2):c.806C>G (p.Ser269Ter)	rs2141785162
NM_001271.4(CHD2):c.847del (p.Val283fs)
NM_001271.4(CHD2):c.879_883del (p.Ser293fs)	rs1060503517
NM_001271.4(CHD2):c.938_948del (p.Gly313fs)	rs2141787520
NM_001271.4(CHD2):c.948C>A (p.Tyr316Ter)	rs1423903266
NM_001271.4(CHD2):c.975del (p.Glu325fs)	rs2141787589
NM_001320643.3(LOC102724428):c.379C>T (p.Arg127Trp)	rs1555841977
NM_001323289.2(CDKL5):c.-162-2A>G	rs786204973
NM_001323289.2(CDKL5):c.100-2A>G	rs267608423
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter)	rs1057518203
NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs)	rs786204964
NM_001323289.2(CDKL5):c.100G>T (p.Glu34Ter)
NM_001323289.2(CDKL5):c.1011dup (p.His338fs)	rs2147160162
NM_001323289.2(CDKL5):c.1037_1038delinsCAGATCTAA (p.Ile346fs)
NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter)	rs267608561
NM_001323289.2(CDKL5):c.1053_1056dup (p.Leu353fs)	rs2147160237
NM_001323289.2(CDKL5):c.1066dup (p.Ala356fs)	rs2147160283
NM_001323289.2(CDKL5):c.106_107del (p.Thr35_His36insTer)	rs2147132223
NM_001323289.2(CDKL5):c.1079del (p.Leu360fs)	rs267608565
NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs)	rs267608566
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs)	rs1926261579
NM_001323289.2(CDKL5):c.1103dup (p.Asn368fs)	rs1926262196
NM_001323289.2(CDKL5):c.1166_1169del (p.Gln389fs)
NM_001323289.2(CDKL5):c.1180_1181dup (p.Ser394fs)
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)	rs122460159
NM_001323289.2(CDKL5):c.1208del (p.Pro403fs)
NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter)	rs267608618
NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter)	rs1555951991
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)	rs786204967
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg)	rs267608429
NM_001323289.2(CDKL5):c.1287dup (p.Gly430fs)
NM_001323289.2(CDKL5):c.1321C>T (p.Gln441Ter)
NM_001323289.2(CDKL5):c.1330_1342del (p.Arg444fs)
NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter)	rs1555952015
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs)	rs587783398
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter)	rs786204969
NM_001323289.2(CDKL5):c.1415_1416del (p.Thr472fs)
NM_001323289.2(CDKL5):c.1419del (p.Gln475fs)	rs2147160726
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs)	rs1602286391
NM_001323289.2(CDKL5):c.1446del (p.Ser481_Tyr482insTer)	rs2147160749
NM_001323289.2(CDKL5):c.145+1G>A	rs2147132274
NM_001323289.2(CDKL5):c.1452del (p.Lys485fs)
NM_001323289.2(CDKL5):c.146-1G>A	rs587783399
NM_001323289.2(CDKL5):c.146-1G>T
NM_001323289.2(CDKL5):c.1485dup (p.Lys496fs)	rs1926283743
NM_001323289.2(CDKL5):c.1486A>T (p.Lys496Ter)	rs1926283887
NM_001323289.2(CDKL5):c.1506dup (p.Glu503Ter)
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter)	rs1555952052
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter)	rs751789670
NM_001323289.2(CDKL5):c.154G>T (p.Glu52Ter)	rs1925261282
NM_001323289.2(CDKL5):c.1584dup (p.Ser529fs)	rs2147160886
NM_001323289.2(CDKL5):c.163G>T (p.Glu55Ter)
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)	rs267608433
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)	rs267608643
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)	rs267608395
NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs)	rs1555952101
NM_001323289.2(CDKL5):c.1686del (p.Arg563fs)	rs2147161009
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter)	rs875989950
NM_001323289.2(CDKL5):c.173_174insGGCCCGGCGCGGTGGCTCACGCCTGTAATACCAGCACTTATGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACGACTTT (p.Leu58_Arg59insAlaArgArgGlyGlySerArgLeuTer)
NM_001323289.2(CDKL5):c.1741del (p.His581fs)
NM_001323289.2(CDKL5):c.1742dup (p.His581fs)	rs1602286792
NM_001323289.2(CDKL5):c.1755_1756del (p.Ser586fs)	rs1926298521
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs)	rs1926298368
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)	rs62653623
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs)	rs786204974
NM_001323289.2(CDKL5):c.1790del (p.Gly597fs)
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs)	rs587783401
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter)	rs1926301954
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter)	rs1602286899
NM_001323289.2(CDKL5):c.183del (p.Met63fs)	rs62643608
NM_001323289.2(CDKL5):c.1852_1853insT (p.Asp618fs)	rs1926303951
NM_001323289.2(CDKL5):c.1883del (p.Ser628fs)	rs1926305134
NM_001323289.2(CDKL5):c.1896del (p.Gln633fs)	rs2147161299
NM_001323289.2(CDKL5):c.1927C>T (p.Gln643Ter)	rs2147161353
NM_001323289.2(CDKL5):c.194G>C (p.Arg65Pro)	rs267608436
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter)	rs267608647
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs)	rs2147164191
NM_001323289.2(CDKL5):c.1994_1997del (p.Lys665fs)
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)	rs267608437
NM_001323289.2(CDKL5):c.2009_2012dup (p.Thr672fs)
NM_001323289.2(CDKL5):c.200_201del (p.Leu67fs)	rs1555949011
NM_001323289.2(CDKL5):c.2016del (p.Ser673fs)	rs267608648
NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs)	rs267608648
NM_001323289.2(CDKL5):c.2022del (p.Phe675fs)	rs1060501860
NM_001323289.2(CDKL5):c.2026del (p.His676fs)	rs1926450614
NM_001323289.2(CDKL5):c.2046+1G>A	rs786204976
NM_001323289.2(CDKL5):c.2047-1G>A	rs267608650
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs)	rs267608651
NM_001323289.2(CDKL5):c.2072_2073del (p.His690_Ser691insTer)	rs2147164676
NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs)	rs786204977
NM_001323289.2(CDKL5):c.2091del (p.Glu699fs)
NM_001323289.2(CDKL5):c.2105_2106del (p.His702fs)	rs786204978
NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs)	rs1569220925
NM_001323289.2(CDKL5):c.2152+1G>T
NM_001323289.2(CDKL5):c.2152+2T>G
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)	rs62641235
NM_001323289.2(CDKL5):c.217G>A (p.Val73Met)	rs2147139605
NM_001323289.2(CDKL5):c.2182del (p.His728fs)	rs1926616715
NM_001323289.2(CDKL5):c.2197_2204dup (p.Arg735fs)	rs1926617807
NM_001323289.2(CDKL5):c.2201_2204dup (p.Arg735delinsSerTer)	rs2147167570
NM_001323289.2(CDKL5):c.2227_2228del (p.Ser743fs)	rs2147167604
NM_001323289.2(CDKL5):c.2247_2250dup (p.Lys751fs)
NM_001323289.2(CDKL5):c.2255_2259dup (p.Pro754fs)
NM_001323289.2(CDKL5):c.2256_2263del (p.Arg752fs)	rs1926620965
NM_001323289.2(CDKL5):c.2276+1G>A	rs1602292181
NM_001323289.2(CDKL5):c.2276+1G>T
NM_001323289.2(CDKL5):c.2277-2A>G	rs786204979
NM_001323289.2(CDKL5):c.2277G>A (p.Trp759Ter)
NM_001323289.2(CDKL5):c.229_232del (p.Glu77fs)	rs267608441
NM_001323289.2(CDKL5):c.2325_2326del (p.Lys776fs)	rs267608654
NM_001323289.2(CDKL5):c.2326_2327del (p.Lys776fs)	rs1602295727
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs)	rs62643614
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter)	rs1555954074
NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter)	rs1555954074
NM_001323289.2(CDKL5):c.2355_2358del (p.Lys786fs)	rs1926837956
NM_001323289.2(CDKL5):c.2359_2363del (p.Lys787fs)	rs1555954078
NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs)	rs587783123
NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs)	rs267608655
NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter)	rs1926838663
NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs)	rs1602295779
NM_001323289.2(CDKL5):c.2376+1G>A	rs267608656
NM_001323289.2(CDKL5):c.2376+1G>C	rs267608656
NM_001323289.2(CDKL5):c.2376+2T>A
NM_001323289.2(CDKL5):c.2398del (p.Asp800fs)
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)	rs267608659
NM_001323289.2(CDKL5):c.244del (p.Arg82fs)	rs1555949041
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs)	rs1555954737
NM_001323289.2(CDKL5):c.2463del (p.Trp821fs)	rs2147175902
NM_001323289.2(CDKL5):c.2464del (p.Arg822fs)
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter)	rs1602298653
NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter)	rs17857094
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)	rs122460158
NM_001323289.2(CDKL5):c.2504del (p.Pro835fs)	rs267608660
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs)	rs267608661
NM_001323289.2(CDKL5):c.2529dup (p.His844fs)
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs)	rs267608662
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter)	rs1927139054
NM_001323289.2(CDKL5):c.2579_2582dup (p.Leu862fs)	rs2147178955
NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter)	rs267608663
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)	rs587783158
NM_001323289.2(CDKL5):c.2606del (p.Asn869fs)	rs2147178971
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)	rs61753251
NM_001323289.2(CDKL5):c.2636del (p.Leu879fs)	rs2147179000
NM_001323289.2(CDKL5):c.2673_2682del (p.Gln891fs)	rs1927142990
NM_001323289.2(CDKL5):c.2682_2683insGGAA (p.Pro895fs)	rs1569225454
NM_001323289.2(CDKL5):c.2682dup (p.Pro895fs)	rs1569225454
NM_001323289.2(CDKL5):c.2693_2694del (p.Arg898fs)	rs2147179071
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter)	rs863225289
NM_001323289.2(CDKL5):c.275_276insAA (p.Glu93fs)	rs786204982
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter)	rs1602300816
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter)	rs2147139684
NM_001323289.2(CDKL5):c.282+1G>A	rs1569213054
NM_001323289.2(CDKL5):c.282+1G>T	rs1569213054
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)	rs1602300837
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)	rs1555955290
NM_001323289.2(CDKL5):c.283-3_290del	rs786204983
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)	rs1555955296
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)	rs1925418549
NM_001323289.2(CDKL5):c.308del (p.Met103fs)	rs2147142599
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs)	rs2147142645
NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs)	rs1925420814
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg)	rs863225290
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs)	rs1925421198
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr)	rs1602271692
NM_001323289.2(CDKL5):c.372_385del (p.His124fs)
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)	rs267608468
NM_001323289.2(CDKL5):c.386del (p.Asn129fs)	rs1602271718
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)	rs1922605766
NM_001323289.2(CDKL5):c.39del (p.Phe13fs)	rs267608415
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter)	rs267608472
NM_001323289.2(CDKL5):c.401G>C (p.Arg134Pro)
NM_001323289.2(CDKL5):c.403+1G>A	rs786204984
NM_001323289.2(CDKL5):c.403+540_554+61del
NM_001323289.2(CDKL5):c.404-1G>A	rs267608474
NM_001323289.2(CDKL5):c.404-1G>T	rs267608474
NM_001323289.2(CDKL5):c.404-2A>G	rs587783080
NM_001323289.2(CDKL5):c.404-6C>G
NM_001323289.2(CDKL5):c.412C>G (p.Pro138Ala)	rs1925492354
NM_001323289.2(CDKL5):c.416A>C (p.Glu139Ala)
NM_001323289.2(CDKL5):c.424T>G (p.Leu142Val)	rs1925493252
NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter)	rs267608477
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter)	rs267608477
NM_001323289.2(CDKL5):c.450del (p.Lys150fs)	rs2147144049
NM_001323289.2(CDKL5):c.453del (p.Cys152fs)	rs1555949763
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr)	rs122460157
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)	rs122460157
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly)	rs786204985
NM_001323289.2(CDKL5):c.463+1G>A	rs267608479
NM_001323289.2(CDKL5):c.463+1G>T	rs267608479
NM_001323289.2(CDKL5):c.463+5G>A	rs886042303
NM_001323289.2(CDKL5):c.463G>A (p.Gly155Ser)
NM_001323289.2(CDKL5):c.464-2A>C	rs267608480
NM_001323289.2(CDKL5):c.464-2A>G	rs267608480
NM_001323289.2(CDKL5):c.464-3C>G
NM_001323289.2(CDKL5):c.469G>C (p.Ala157Pro)	rs2147145500
NM_001323289.2(CDKL5):c.46del (p.Val18fs)
NM_001323289.2(CDKL5):c.495dup (p.Ala166fs)	rs1925573011
NM_001323289.2(CDKL5):c.503dup (p.Tyr168Ter)
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs)	rs786204987
NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter)	rs1555950066
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)	rs267608490
NM_001323289.2(CDKL5):c.513C>G (p.Tyr171Ter)	rs267608490
NM_001323289.2(CDKL5):c.515T>G (p.Val172Gly)
NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly)	rs1925574557
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser)	rs61749700
NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly)	rs587783084
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter)	rs2147145565
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys)	rs786204989
NM_001323289.2(CDKL5):c.532C>G (p.Arg178Gly)	rs267608493
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)	rs267608493
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)	rs267606715
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro)	rs267606715
NM_001323289.2(CDKL5):c.533G>T (p.Arg178Leu)
NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu)	rs61749704
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp)	rs1602230515
NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs)	rs587783111
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs)	rs267608497
NM_001323289.2(CDKL5):c.554+1G>A	rs1555950083
NM_001323289.2(CDKL5):c.554+4A>G	rs2147145614
NM_001323289.2(CDKL5):c.554+5G>A	rs1925577525
NM_001323289.2(CDKL5):c.578A>C (p.Asp193Ala)	rs267608500
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly)	rs267608500
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly)	rs1569215594
NM_001323289.2(CDKL5):c.585G>A (p.Trp195Ter)	rs2147147996
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)	rs267608501
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)	rs267608418
NM_001323289.2(CDKL5):c.593G>A (p.Gly198Asp)	rs1925696959
NM_001323289.2(CDKL5):c.604G>T (p.Gly202Trp)	rs2147148032
NM_001323289.2(CDKL5):c.609G>C (p.Glu203Asp)
NM_001323289.2(CDKL5):c.614_617dup (p.Asp206fs)	rs1555950465
NM_001323289.2(CDKL5):c.61G>A (p.Glu21Lys)
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val)	rs2147148055
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)	rs587783405
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)	rs587783406
NM_001323289.2(CDKL5):c.630_631del (p.Leu210fs)
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu)	rs1569215629
NM_001323289.2(CDKL5):c.64+1G>C	rs1922607301
NM_001323289.2(CDKL5):c.64+2del	rs267608419
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro)	rs267608511
NM_001323289.2(CDKL5):c.665del (p.Thr222fs)
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter)	rs1925701271
NM_001323289.2(CDKL5):c.692del (p.Pro231fs)
NM_001323289.2(CDKL5):c.712_713dup (p.Tyr239fs)
NM_001323289.2(CDKL5):c.725del (p.Pro242fs)	rs1555950494
NM_001323289.2(CDKL5):c.744+1G>A	rs1925705674
NM_001323289.2(CDKL5):c.745-1G>T	rs2147153521
NM_001323289.2(CDKL5):c.747dup (p.Pro250fs)	rs875989880
NM_001323289.2(CDKL5):c.749del (p.Pro250fs)	rs2147153531
NM_001323289.2(CDKL5):c.74G>T (p.Gly25Val)
NM_001323289.2(CDKL5):c.781dup (p.Arg261fs)
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter)	rs1555951146
NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs)	rs267608528
NM_001323289.2(CDKL5):c.812T>C (p.Leu271Pro)
NM_001323289.2(CDKL5):c.830T>C (p.Leu277Ser)	rs2147156094
NM_001323289.2(CDKL5):c.844_856delinsA (p.Pro282_Tyr286delinsAsn)	rs2147156107
NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys)	rs1064795672
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile)	rs267606713
NM_001323289.2(CDKL5):c.867dup (p.Gln290fs)	rs267608537
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter)	rs1569218019
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr)	rs267606714
NM_001323289.2(CDKL5):c.877_881dup (p.His294fs)	rs1926080344
NM_001323289.2(CDKL5):c.878dup (p.Asn293fs)	rs1926080187
NM_001323289.2(CDKL5):c.884del (p.Pro295fs)	rs267608542
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs)	rs1602282699
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs)	rs267608546
NM_001323289.2(CDKL5):c.906del (p.Leu303fs)	rs2147156191
NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly)	rs786204991
NM_001323289.2(CDKL5):c.934A>T (p.Lys312Ter)
NM_001323289.2(CDKL5):c.964dup (p.Thr322fs)	rs267608552
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)
NM_001323289.2(CDKL5):c.978-1G>A	rs2147160087
NM_001323289.2(CDKL5):c.978-2A>G	rs267608553
NM_001323289.2(CDKL5):c.99+1G>T	rs267608421
NM_001323289.2(CDKL5):c.99+5G>A	rs587783131
NM_001323289.2(CDKL5):c.993_994dup (p.Ser332fs)	rs2147160115
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2901+2T>C	rs2138863154
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys)	rs1942879102
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)	rs2138711868
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)	rs879255652
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val)	rs796053220
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)	rs796053228
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455
NM_001350451.2(RBFOX3):c.1002C>A (p.Tyr334Ter)	rs972548690
NM_001365999.1(SZT2):c.105C>G (p.Phe35Leu)	rs1553138299
NM_001365999.1(SZT2):c.5938G>A (p.Val1980Met)	rs780805483
NM_001365999.1(SZT2):c.8803C>T (p.Arg2935Trp)	rs1553154643
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
NM_003159.2(CDKL5):c.-162-?_*85del
NM_003159.2(CDKL5):c.-162-?_145+?del
NM_003159.2(CDKL5):c.-162-?_64+?del
NM_003159.2(CDKL5):c.-162-?_99+?del
NM_003159.2(CDKL5):c.-253_2276+?del
NM_003159.2(CDKL5):c.-253_825+?del
NM_003159.2(CDKL5):c.-253_977+?del
NM_003159.2(CDKL5):c.-253_99+?del
NM_003159.2(CDKL5):c.100-?_145+?del
NM_003159.2(CDKL5):c.146-?_*85del
NM_003159.2(CDKL5):c.2377-?_*85del
NM_003159.2(CDKL5):c.2497-?_*85del
NM_003159.2(CDKL5):c.65-?_99+?del
NM_003159.2(CDKL5):c.65dupG	rs267608420
NM_003159.2(CDKL5):c.745-?_825+?del
NM_004171.4(SLC1A2):c.244G>A (p.Gly82Arg)	rs886037942
NM_004171.4(SLC1A2):c.244G>C (p.Gly82Arg)	rs886037942
NM_004171.4(SLC1A2):c.254T>C (p.Leu85Pro)	rs886037943
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg)	rs781379291
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser)	rs1554774575
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg)	rs1554774587
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala)	rs587777862
NM_004408.4(DNM1):c.1090_1091insTTCCAC (p.Asn363_Arg364insLeuPro)	rs1564332930
NM_004408.4(DNM1):c.1195A>T (p.Arg399Ter)	rs2131175203
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser)	rs1554767313
NM_004408.4(DNM1):c.1335+1638G>A	rs747079285
NM_004408.4(DNM1):c.139G>A (p.Val47Met)	rs869312702
NM_004408.4(DNM1):c.1626del (p.Trp542fs)
NM_004408.4(DNM1):c.2296C>T (p.Gln766Ter)	rs1829434336
NM_004408.4(DNM1):c.2299dup (p.Ser767fs)	rs2131297826
NM_004408.4(DNM1):c.2434dup (p.Ala812fs)	rs747024881
NM_004408.4(DNM1):c.416G>A (p.Gly139Glu)	rs1554772913
NM_004408.4(DNM1):c.529G>C (p.Ala177Pro)	rs587777860
NM_004408.4(DNM1):c.590-2A>G
NM_004408.4(DNM1):c.618G>C (p.Lys206Asn)	rs587777861
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)	rs760270633
NM_004408.4(DNM1):c.767del (p.Arg256fs)	rs2131158061
NM_004408.4(DNM1):c.865A>T (p.Ile289Phe)	rs1554774401
NM_004519.4(KCNQ3):c.1078C>T (p.Gln360Ter)	rs1554627019
NM_004519.4(KCNQ3):c.1090C>T (p.Arg364Cys)	rs1459374430
NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val)	rs1554626549
NM_004519.4(KCNQ3):c.115G>T (p.Glu39Ter)
NM_004519.4(KCNQ3):c.1206T>A (p.Tyr402Ter)	rs1489716280
NM_004519.4(KCNQ3):c.1220_1221del (p.Ser407fs)	rs1826288852
NM_004519.4(KCNQ3):c.1423del (p.Ala475fs)	rs2130944386
NM_004519.4(KCNQ3):c.1558C>T (p.Arg520Ter)	rs1289108911
NM_004519.4(KCNQ3):c.1576C>T (p.Gln526Ter)
NM_004519.4(KCNQ3):c.1599del (p.Lys533fs)	rs762289015
NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs)	rs762289015
NM_004519.4(KCNQ3):c.1621del (p.Tyr541fs)	rs2130938733
NM_004519.4(KCNQ3):c.1685dup (p.Tyr563fs)	rs1563767053
NM_004519.4(KCNQ3):c.1722del (p.Gly575fs)	rs1563764788
NM_004519.4(KCNQ3):c.299_302del (p.Asn100fs)
NM_004519.4(KCNQ3):c.61_77del (p.Gly20_Gly21insTer)	rs1174348338
NM_004519.4(KCNQ3):c.679C>T (p.Arg227Ter)	rs796052675
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.710T>A (p.Met237Lys)
NM_004519.4(KCNQ3):c.802G>C (p.Gly268Arg)	rs1282879239
NM_004519.4(KCNQ3):c.893del (p.Glu298fs)
NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val)	rs796052678
NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg)	rs118192249
NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val)	rs118192250
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr)	rs1586800133
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)	rs118192251
NM_004519.4(KCNQ3):c.989G>A (p.Arg330His)	rs1162306056
NM_004519.4(KCNQ3):c.989G>T (p.Arg330Leu)	rs1162306056
NM_005045.4(RELN):c.5791A>G (p.Asn1931Asp)	rs369993428
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter)	rs751409835
NM_005076.5(CNTN2):c.1180C>T (p.Gln394Ter)	rs2151192841
NM_005076.5(CNTN2):c.124C>T (p.Gln42Ter)
NM_005076.5(CNTN2):c.1327dup (p.Arg443fs)
NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter)	rs114903768
NM_005076.5(CNTN2):c.159_160delinsTT (p.Glu54Ter)
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter)	rs867618155
NM_005076.5(CNTN2):c.2067_2068del (p.Ile690fs)
NM_005076.5(CNTN2):c.2081_2099del (p.Gly694fs)
NM_005076.5(CNTN2):c.2193G>A (p.Trp731Ter)
NM_005076.5(CNTN2):c.2587C>T (p.Arg863Ter)	rs531184069
NM_005076.5(CNTN2):c.2697dup (p.Ser900fs)	rs2151200083
NM_005076.5(CNTN2):c.2740C>T (p.Arg914Ter)	rs768608238
NM_005076.5(CNTN2):c.2773del (p.Ser925fs)	rs2151200415
NM_005076.5(CNTN2):c.2874_2875del (p.Pro959fs)
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter)
NM_005076.5(CNTN2):c.504del (p.Trp168fs)	rs398122387
NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter)	rs537026414
NM_005076.5(CNTN2):c.766C>T (p.Gln256Ter)
NM_005076.5(CNTN2):c.851G>A (p.Trp284Ter)
NM_005670.4(EPM2A):c.314A>G (p.His105Arg)	rs1554263366
NM_005885.4(MARCHF6):c.19+2427TTTAT[641]
NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)	rs587784489
NM_006009.4(TUBA1A):c.656T>C (p.Ile219Thr)	rs2121244045
NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter)	rs201204481
NM_006279.5(ST3GAL3):c.891+1del	rs1387140766
NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro)	rs1557563410
NM_006516.4(SLC2A1):c.1010A>T (p.His337Leu)	rs1553155982
NM_006516.4(SLC2A1):c.197_198delinsAA (p.Ser66Ter)
NM_007254.4(PNKP):c.1003_1016del (p.Gly335fs)	rs1131691883
NM_007254.4(PNKP):c.1044_1065dup (p.Glu356fs)	rs2074777487
NM_007254.4(PNKP):c.1059C>A (p.Cys353Ter)	rs1337771339
NM_007254.4(PNKP):c.1065_1081del (p.Ser357fs)	rs1366190965
NM_007254.4(PNKP):c.1065del (p.Glu356fs)
NM_007254.4(PNKP):c.1126+1del
NM_007254.4(PNKP):c.112del (p.Pro37_Leu38insTer)
NM_007254.4(PNKP):c.113del (p.Leu38fs)
NM_007254.4(PNKP):c.1203_1291del (p.Trp402fs)	rs1568659036
NM_007254.4(PNKP):c.1206G>A (p.Trp402Ter)
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)	rs786205207
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)	rs587784365
NM_007254.4(PNKP):c.1264_1271del (p.Asp422fs)
NM_007254.4(PNKP):c.1265_1289dup (p.Ser430fs)
NM_007254.4(PNKP):c.1270_1283dup (p.Ala429fs)	rs746413622
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs)	rs764379536
NM_007254.4(PNKP):c.1283_1296del (p.Ala428fs)
NM_007254.4(PNKP):c.1288_1294del (p.Ser430fs)	rs796052860
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs)	rs796052860
NM_007254.4(PNKP):c.1295_1298+6del	rs587784366
NM_007254.4(PNKP):c.1299-1G>A
NM_007254.4(PNKP):c.1299-2A>G	rs2122319491
NM_007254.4(PNKP):c.1311T>A (p.Cys437Ter)	rs1309576866
NM_007254.4(PNKP):c.1314_1315del (p.Arg439fs)
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs)	rs796052862
NM_007254.4(PNKP):c.1333del (p.Cys445fs)
NM_007254.4(PNKP):c.1386+49_1387-33del	rs752902474
NM_007254.4(PNKP):c.1390C>T (p.Arg464Ter)	rs138249970
NM_007254.4(PNKP):c.1395_1396del (p.Glu465fs)	rs1413085852
NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer)	rs1443873131
NM_007254.4(PNKP):c.1403_1406dup (p.Ser470fs)
NM_007254.4(PNKP):c.1422_1423del (p.Ser475fs)	rs2074757362
NM_007254.4(PNKP):c.1440T>G (p.Tyr480Ter)	rs2074756863
NM_007254.4(PNKP):c.1448+2T>A	rs1600414549
NM_007254.4(PNKP):c.1481_1500dup (p.Ile501fs)
NM_007254.4(PNKP):c.1510del (p.Arg504fs)	rs771489173
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs)	rs1279136929
NM_007254.4(PNKP):c.1543dup (p.Tyr515fs)	rs2122315348
NM_007254.4(PNKP):c.298dup (p.His100fs)
NM_007254.4(PNKP):c.36del (p.Glu13fs)
NM_007254.4(PNKP):c.394_395del (p.Asp132fs)
NM_007254.4(PNKP):c.47del (p.Pro16fs)	rs1246416070
NM_007254.4(PNKP):c.63del (p.Ile22fs)	rs1568663209
NM_007254.4(PNKP):c.63dup (p.Ile22fs)	rs1568663209
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter)	rs982113263
NM_007254.4(PNKP):c.756_760del (p.Thr253fs)	rs2122333424
NM_007254.4(PNKP):c.762_765del (p.His254fs)
NM_007254.4(PNKP):c.808C>T (p.Gln270Ter)	rs965965834
NM_007254.4(PNKP):c.847del (p.Asp283fs)	rs2122329109
NM_007254.4(PNKP):c.916_917del (p.Phe306fs)	rs2074784617
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys)	rs267606956
NM_007254.4(PNKP):c.983_986del (p.Phe328fs)
NM_007254.4(PNKP):c.984del (p.Leu329fs)	rs1163218519
NM_007254.4(PNKP):c.999_1005dup (p.Phe336fs)
NM_007327.4(GRIN1):c.2504T>C (p.Ile835Thr)	rs1554770659
NM_012281.3(KCND2):c.1096G>T (p.Val366Phe)
NM_012281.3(KCND2):c.1207C>G (p.Pro403Ala)	rs1792826036
NM_012281.3(KCND2):c.1208C>T (p.Pro403Leu)	rs750457269
NM_012281.3(KCND2):c.1210G>A (p.Val404Met)	rs587777631
NM_012281.3(KCND2):c.913C>T (p.Arg305Cys)	rs1236737877
NM_015192.4(PLCB1):c.1087del (p.Asp363fs)
NM_015192.4(PLCB1):c.1612G>T (p.Glu538Ter)	rs1600278094
NM_015192.4(PLCB1):c.1678dup (p.Arg561fs)
NM_015192.4(PLCB1):c.2155del (p.Gln719fs)
NM_015192.4(PLCB1):c.2666del (p.Lys889fs)	rs1981959745
NM_015192.4(PLCB1):c.3094C>T (p.Arg1032Ter)
NM_015192.4(PLCB1):c.3382C>T (p.His1128Tyr)	rs1555790846
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter)	rs990536521
NM_015192.4(PLCB1):c.967del (p.Ser323fs)	rs2123399674
NM_016373.4(WWOX):c.1035del (p.Arg346fs)
NM_016373.4(WWOX):c.1043del (p.Phe348fs)	rs1064795117
NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter)	rs770155582
NM_016373.4(WWOX):c.107+1G>A	rs1300924648
NM_016373.4(WWOX):c.107+1_107+2delinsTA
NM_016373.4(WWOX):c.108_112dup (p.Thr38fs)
NM_016373.4(WWOX):c.1110_1119del (p.Leu371fs)	rs2051756247
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter)	rs587777127
NM_016373.4(WWOX):c.127C>T (p.Gln43Ter)	rs1284883505
NM_016373.4(WWOX):c.131G>A (p.Trp44Ter)	rs1057517846
NM_016373.4(WWOX):c.173-1G>C
NM_016373.4(WWOX):c.173-1G>T
NM_016373.4(WWOX):c.1A>C (p.Met1Leu)
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter)	rs201008667
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter)	rs990150249
NM_016373.4(WWOX):c.2T>C (p.Met1Thr)
NM_016373.4(WWOX):c.321C>G (p.Tyr107Ter)	rs373306276
NM_016373.4(WWOX):c.333del (p.Thr112fs)	rs2151674791
NM_016373.4(WWOX):c.409+1G>C	rs1060502727
NM_016373.4(WWOX):c.427_478dup (p.Arg160fs)
NM_016373.4(WWOX):c.46_49del (p.Asp16fs)	rs730880291
NM_016373.4(WWOX):c.517-1G>T	rs867163041
NM_016373.4(WWOX):c.552dup (p.Ala185fs)
NM_016373.4(WWOX):c.583G>T (p.Glu195Ter)	rs1567542020
NM_016373.4(WWOX):c.606-1G>A	rs730882215
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4(WWOX):c.705dup (p.His236fs)	rs1597216056
NM_016373.4(WWOX):c.779C>G (p.Ser260Ter)	rs878855021
NM_016373.4(WWOX):c.854dup (p.Asn285fs)	rs1394607357
NM_016373.4(WWOX):c.863G>A (p.Trp288Ter)
NM_016373.4(WWOX):c.918del (p.Glu306fs)	rs1057518795
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del)	rs974157467
NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]
NM_020705.2(TBC1D24):c.[338C>A];[476T>C]
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs)	rs869312662
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu)	rs104894743
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)	rs587783182
NM_139058.3(ARX):c.1111del (p.Arg371fs)
NM_139058.3(ARX):c.1120-2A>G	rs2147320644
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter)	rs2147320638
NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)
NM_139058.3(ARX):c.1180_1187del (p.His394fs)
NM_139058.3(ARX):c.1187dup (p.Gly397fs)	rs1328291159
NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs)	rs2048682045
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.1430del (p.Ile477fs)
NM_139058.3(ARX):c.1443dup (p.Gly482fs)	rs2147320305
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1465del (p.Ala489fs)	rs587783191
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)	rs797045292
NM_139058.3(ARX):c.1472del (p.Leu491fs)	rs2147318790
NM_139058.3(ARX):c.1497del (p.Leu500fs)
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs)	rs1601945655
NM_139058.3(ARX):c.1559del (p.Pro520fs)
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter)	rs1601945626
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln)	rs387906715
NM_139058.3(ARX):c.193C>T (p.Gln65Ter)
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup)	rs2147324381
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	rs387906492
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)	rs387906492
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)	rs1365611175
NM_139058.3(ARX):c.357_391del (p.Gly120fs)
NM_139058.3(ARX):c.370G>T (p.Glu124Ter)	rs2147324296
NM_139058.3(ARX):c.378_459del (p.Pro127fs)
NM_139058.3(ARX):c.409del (p.Glu137fs)
NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup)	rs1556056154
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)	rs387906493
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup)	rs1556056125
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)	rs398124510
NM_139058.3(ARX):c.451_464del (p.Ala151fs)
NM_139058.3(ARX):c.457del (p.Ala153fs)
NM_139058.3(ARX):c.486_489del (p.Ser162fs)
NM_139058.3(ARX):c.590dup (p.Val198fs)
NM_139058.3(ARX):c.642_645del (p.Pro215fs)	rs2147323943
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter)	rs398122854
NM_139058.3(ARX):c.956C>A (p.Ser319Ter)	rs2048708701
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)	rs2147323593
NM_139058.3(ARX):c.995G>A (p.Arg332His)	rs111033612
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr)
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro)
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser)
NM_139318.5(KCNH5):c.2020-4A>G
NM_139318.5(KCNH5):c.980G>A (p.Arg327His)	rs587777164
NM_139318.5(KCNH5):c.998G>A (p.Arg333His)	rs1383017734
NM_145239.3(PRRT2):c.-65-1G>A	rs1900052727
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
NM_145239.3(PRRT2):c.291del (p.Asn98fs)	rs730882073
NM_145239.3(PRRT2):c.397del (p.Glu133fs)
NM_145239.3(PRRT2):c.46G>T (p.Glu16Ter)
NM_145239.3(PRRT2):c.629del (p.Pro210fs)	rs730882067
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)	rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs)	rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.650del (p.Arg217fs)	rs730882124
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)	rs387907126
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)	rs397514579
NM_145239.3(PRRT2):c.879+5G>A	rs1596893185
NM_145239.3(PRRT2):c.971del (p.Gly324fs)	rs796052941
NM_152221.3(CSNK1E):c.885+1G>A	rs1569077009
NM_152296.5(ATP1A3):c.1115del (p.Thr372fs)	rs2145972429
NM_172107.2(KCNQ2):c.1119-?_*382del
NM_172107.2(KCNQ2):c.297-?_1247+?del
NM_172107.2(KCNQ2):c.388-682_1118+?del
NM_172107.2(KCNQ2):c.388-?_1301+?del
NM_172107.2:c.1-?c.993+?del
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)	rs2080906453
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met)	rs118192219
NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter)	rs1600732174
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs)	rs796052657
NM_172107.4(KCNQ2):c.1160dup (p.Leu388fs)	rs796052657
NM_172107.4(KCNQ2):c.1228CCG[1] (p.Pro411del)	rs1060499544
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs)	rs886041339
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs)	rs886041339
NM_172107.4(KCNQ2):c.1302-1G>C	rs118192225
NM_172107.4(KCNQ2):c.1411C>T (p.Gln471Ter)
NM_172107.4(KCNQ2):c.1420G>T (p.Glu474Ter)	rs368130496
NM_172107.4(KCNQ2):c.1631+1G>A	rs1057516121
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)	rs759584387
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn)	rs267607198
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs)	rs118192231
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)	rs796052653
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)	rs118192235
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs)	rs118192241
NM_172107.4(KCNQ2):c.1956dup (p.Thr653fs)	rs1601545088
NM_172107.4(KCNQ2):c.195_198del (p.Lys66fs)
NM_172107.4(KCNQ2):c.197del (p.Lys66fs)	rs2082235501
NM_172107.4(KCNQ2):c.2048_2049del (p.His683fs)
NM_172107.4(KCNQ2):c.2118del (p.Ala707fs)
NM_172107.4(KCNQ2):c.2127del (p.Val710fs)	rs118192244
NM_172107.4(KCNQ2):c.2315del (p.Pro772fs)	rs2079959227
NM_172107.4(KCNQ2):c.2318dup (p.Cys774fs)	rs1555850512
NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs)	rs1555850403
NM_172107.4(KCNQ2):c.2425C>T (p.Gln809Ter)
NM_172107.4(KCNQ2):c.2605_2609dup (p.Arg871fs)	rs118192246
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn)	rs2082232988
NM_172107.4(KCNQ2):c.319C>T (p.Leu107Phe)	rs864321712
NM_172107.4(KCNQ2):c.387+1G>A
NM_172107.4(KCNQ2):c.3G>A (p.Met1Ile)	rs866273848
NM_172107.4(KCNQ2):c.507_514+10del	rs2081377258
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer)	rs118192197
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)	rs796052621
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)	rs796052623
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val)	rs1057516087
NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg)	rs1339542565
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)	rs74315391
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)	rs118192200
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)	rs796052626
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)	rs118192203
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu)	rs397514581
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)	rs28939684
NM_172107.4(KCNQ2):c.641G>A (p.Arg214Gln)	rs1057518555
NM_172107.4(KCNQ2):c.668_669del (p.Ser223fs)
NM_172107.4(KCNQ2):c.700A>G (p.Thr234Ala)	rs1057516091
NM_172107.4(KCNQ2):c.761A>C (p.Glu254Ala)	rs794727739
NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys)	rs770187706
NM_172107.4(KCNQ2):c.775G>T (p.Asp259Tyr)	rs777257591
NM_172107.4(KCNQ2):c.807G>T (p.Trp269Cys)	rs118192208
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)	rs727503974
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp)	rs2145719551
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys)	rs28939683
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)	rs118192212
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)	rs74315390
NM_172107.4(KCNQ2):c.916G>C (p.Ala306Pro)	rs74315390
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)	rs864321707
NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter)	rs786205160
NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter)	rs786205161
NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser)	rs786205163
NM_173354.5(SIK1):c.859C>A (p.Pro287Thr)	rs786205159
NM_198904.4(GABRG2):c.1025del (p.Cys342fs)	rs1060501889
NM_198904.4(GABRG2):c.1035del (p.Phe345fs)	rs1581453822
NM_198904.4(GABRG2):c.1087del (p.Arg363fs)	rs1765186475
NM_198904.4(GABRG2):c.1181C>A (p.Ser394Ter)
NM_198904.4(GABRG2):c.1192C>T (p.Gln398Ter)	rs121909674
NM_198904.4(GABRG2):c.1202dup (p.Asn401fs)
NM_198904.4(GABRG2):c.1217_1218del (p.Gln406fs)	rs1554101202
NM_198904.4(GABRG2):c.1224_1225insCA (p.Asp409fs)	rs2113650735
NM_198904.4(GABRG2):c.1236C>A (p.Tyr412Ter)
NM_198904.4(GABRG2):c.1277_1278insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTCTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCCAGTTTTTT (p.Phe426_Cys427insPhePhePhePhePhePheXaaXaaXaaXaaPhePhePhePheSerPhePhePheTyrPhePheIlePhePhePhePhePheIleIleLeuTer)
NM_198904.4(GABRG2):c.1277del (p.Phe426fs)	rs1285618109
NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter)	rs1554101224
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu)	rs587780341
NM_198904.4(GABRG2):c.1353del (p.Tyr452fs)
NM_198904.4(GABRG2):c.178A>T (p.Lys60Ter)
NM_198904.4(GABRG2):c.230_231del (p.Gly76_Tyr77insTer)
NM_198904.4(GABRG2):c.244C>T (p.Arg82Trp)	rs146470870
NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln)	rs121909673
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)	rs1057520498
NM_198904.4(GABRG2):c.291T>A (p.Tyr97Ter)
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)	rs796052505
NM_198904.4(GABRG2):c.327+1del
NM_198904.4(GABRG2):c.334A>C (p.Thr112Pro)
NM_198904.4(GABRG2):c.351dup (p.Ala118fs)	rs1554097873
NM_198904.4(GABRG2):c.363G>A (p.Trp121Ter)
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)	rs2113325423
NM_198904.4(GABRG2):c.386del (p.Asn129fs)
NM_198904.4(GABRG2):c.429dup (p.Lys144fs)	rs2113326012
NM_198904.4(GABRG2):c.452_455del (p.Phe151fs)
NM_198904.4(GABRG2):c.471del (p.Ala158fs)	rs1554097890
NM_198904.4(GABRG2):c.498del (p.Asn167fs)	rs2113326854
NM_198904.4(GABRG2):c.529C>G (p.Arg177Gly)	rs267606837
NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter)	rs267606837
NM_198904.4(GABRG2):c.530del (p.Arg177fs)	rs878854144
NM_198904.4(GABRG2):c.570C>A (p.Cys190Ter)
NM_198904.4(GABRG2):c.654_664del (p.Ile218fs)
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)	rs1045493304
NM_198904.4(GABRG2):c.677_681del (p.Ser225_Ser226insTer)	rs1554098222
NM_198904.4(GABRG2):c.697del (p.Arg233fs)	rs1761620237
NM_198904.4(GABRG2):c.715C>T (p.Gln239Ter)
NM_198904.4(GABRG2):c.748G>T (p.Glu250Ter)	rs549251133
NM_198904.4(GABRG2):c.769+2T>C
NM_198904.4(GABRG2):c.769+2T>G	rs1561645243
NM_198904.4(GABRG2):c.769G>A (p.Gly257Arg)	rs1554098235
NM_198904.4(GABRG2):c.782del (p.Val261fs)
NM_198904.4(GABRG2):c.817G>T (p.Gly273Ter)	rs1469287853
NM_198904.4(GABRG2):c.839A>G (p.Tyr280Cys)
NM_198904.4(GABRG2):c.844C>T (p.Pro282Ser)	rs796052508
NM_198904.4(GABRG2):c.852_858del (p.Leu285fs)
NM_198904.4(GABRG2):c.877T>A (p.Ser293Thr)	rs2113598950
NM_198904.4(GABRG2):c.917C>T (p.Ser306Phe)	rs2113599212
NM_198904.4(GABRG2):c.929C>G (p.Thr310Ser)	rs2113632484
NM_198904.4(GABRG2):c.940A>T (p.Thr314Ser)	rs2113632555
NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter)	rs1758361435
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)	rs796052510
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln)	rs397514737
NM_198904.4(GABRG2):c.974C>T (p.Ser325Leu)	rs1581453572
NM_198904.4(GABRG2):c.983A>T (p.Lys328Met)	rs121909672
NM_198904.4(GABRG2):c.992A>G (p.Tyr331Cys)	rs1390117240
RAPGEF2, 5-BP INS, TTTCA(n) REPEAT EXPANSION
SAMD12, 5-BP INS, TTTCA(n) REPEAT EXPANSION, IVS4
TNRC6A, 5-BP INS, TTTCA(n) REPEAT EXPANSION
nsv1197577

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