ClinVar Miner

List of variants reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 606
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HGVS dbSNP
CHRNA4, 3-BP INS, 776GCT
CLN3, 3-KB DEL, NT928
CLN3, 6-KB DEL
CLN3, IVSDS, G-C, +1/76-BP DEL
CSTB, 2-BP DEL, 2404TC
LGI1, 1-BP DEL, 835C
LGI1, 1320C-T
LGI1, 81-KB DEL
LGI1, IVS5DS, G-A, +1
MFSD8, 2-BP DEL/2-BP INS
NC_000001.10:g.40558255_40562842del
NC_000006.11:g.(?_145946811)_(146056654_?)del
NC_000006.11:g.(?_146007238)_(146007452_?)del
NC_000007.13:g.(?_66103220)_(66104239_?)del
NC_000008.10:g.(?_1719201)_(1728753_?)del
NC_000008.10:g.(?_1719211)_(1728743_?)del
NC_000010.11:g.(93704377_?)_(?_93785620)del
NC_000013.10:g.(?_77566067)_(77575124_?)del
NC_000015.9:g.(?_68521820)_(68521942_?)del
NC_000015.9:g.(?_68521830)_(68521932_?)del
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_136684)_(188286_?)del
NC_000016.9:g.(?_148123)_(150527_?)del
NC_000016.9:g.(?_160503)_(162794_?)del
NC_000016.9:g.(?_180501)_(180610_?)del
NC_000016.9:g.(?_180501)_(188286_?)del
NC_000016.9:g.(?_28497286)_(28498251_?)del
NC_000016.9:g.(?_28497648)_(28497991_?)del
NC_000016.9:g.(?_28497668)_(28497971_?)del
NC_000016.9:g.(?_28498757)_(28503100_?)del
NC_000016.9:g.(?_28498777)_(28607251_?)del
NC_000016.9:g.(?_9943593)_(9943838_?)del
NC_000016.9:g.(?_9984823)_(9984977_?)del
NC_000022.10:g.(?_32150888)_(32150985_?)del
NC_000022.10:g.(?_32150888)_(32211218_?)del
NC_000022.10:g.(?_32150888)_(32302503_?)del
NC_000022.10:g.(?_32154512)_(32154639_?)del
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.10:g.(?_32160941)_(32162674_?)del
NC_000022.10:g.(?_32200128)_(32206647_?)del
NC_000022.10:g.(?_32205577)_(32211218_?)del
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.4279A>G rs797044543
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000086.2(CLN3):c.1054C>T (p.Gln352Ter) rs386833697
NM_000086.2(CLN3):c.1198-1G>T rs386833702
NM_000086.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709
NM_000086.2(CLN3):c.371_372insT (p.Ser125fs) rs587779397
NM_000086.2(CLN3):c.424del (p.Val142fs) rs386833720
NM_000086.2(CLN3):c.460+376_677+388del
NM_000086.2(CLN3):c.461-279_677+384del rs1555468632
NM_000086.2(CLN3):c.461-280_677+382del rs1555468634
NM_000086.2(CLN3):c.569dup (p.Ala191fs) rs386833732
NM_000086.2(CLN3):c.597C>A (p.Tyr199Ter) rs267606737
NM_000086.2(CLN3):c.622dup (p.Ser208fs) rs386833736
NM_000086.2(CLN3):c.790+532_1056+1445del
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000086.2(CLN3):c.944dup (p.His315fs) rs386833740
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG(2_3)
NM_000100.3(CSTB):c.-210_-199(30_125)
NM_000100.3(CSTB):c.10G>C (p.Gly4Arg) rs74315443
NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) rs386833439
NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) rs545986367
NM_000100.3(CSTB):c.149G>A (p.Gly50Glu) rs312262708
NM_000100.3(CSTB):c.168+2_168+19del rs312262707
NM_000100.3(CSTB):c.168+2_168+21delinsAA rs864309482
NM_000100.3(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.3(CSTB):c.169-2A>G rs386833441
NM_000100.3(CSTB):c.200_203dup (p.Val69fs)
NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) rs74315442
NM_000100.3(CSTB):c.212A>C (p.Gln71Pro) rs121909346
NM_000100.3(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.3(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000310.3(PPT1):c.134G>A (p.Cys45Tyr) rs137852702
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.3(PPT1):c.223A>C (p.Thr75Pro) rs137852696
NM_000310.3(PPT1):c.236A>G (p.Asp79Gly) rs137852697
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.322G>C (p.Gly108Arg) rs137852701
NM_000310.3(PPT1):c.335_336del (p.Met112fs)
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.490C>T (p.Arg164Ter) rs386833649
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.536+1G>A rs386833651
NM_000310.3(PPT1):c.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.629_630dup (p.Ile211fs)
NM_000310.3(PPT1):c.656T>A (p.Leu219Gln) rs137852698
NM_000310.3(PPT1):c.6del (p.Ser3fs)
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter) rs1564854729
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885
NM_000391.4(TPP1):c.1676_1677CT[1] (p.Leu560fs)
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) rs121908195
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) rs1564855860
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter)
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) rs28940573
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) rs752164603
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) rs796053439
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.887-10A>G rs755445790
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408
NM_000682.7(ADRA2B):c.675_686delinsGTTTGGCAG (p.His225_Leu229delinsGlnPheGlyArg) rs879255577
NM_000726.4(CACNB4):c.610del (p.Gln204fs) rs1057518688
NM_000742.4(CHRNA2):c.1126C>T (p.Arg376Trp) rs1018084204
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe) rs1554514507
NM_000744.6(CHRNA4):c.1007G>A (p.Arg336His) rs281865068
NM_000744.6(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.6(CHRNA4):c.867_869GCT[3] (p.Leu291dup) rs281865067
NM_000744.6(CHRNA4):c.878C>T (p.Thr293Ile) rs281865066
NM_000746.6(CHRNA7):c.241-1G>A rs1566846736
NM_000748.3(CHRNB2):c.1010T>G (p.Val337Gly) rs281865072
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu) rs74315291
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu) rs74315291
NM_000748.3(CHRNB2):c.901C>G (p.Leu301Val) rs281865069
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) rs281865070
NM_000748.3(CHRNB2):c.936C>G (p.Ile312Met) rs281865071
NM_000756.3(CRH):c.-365G>C rs72556399
NM_000756.3(CRH):c.-669C>A rs12721510
NM_000756.4(CRH):c.89C>G (p.Pro30Arg) rs748404250
NM_000806.5(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
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_001037.5(SCN1B):c.472G>C (p.Val158Leu) rs138450474
NM_001040142.2(SCN2A):c.2182T>C (p.Cys728Arg) rs1553574522
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001077350.3(NPRL3):c.1070del (p.Pro357fs) rs886037962
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961
NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs) rs1567129567
NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC rs886037959
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs) rs886037960
NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter) rs1021001959
NM_001077350.3(NPRL3):c.341del (p.Pro114fs)
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter)
NM_001077350.3(NPRL3):c.835dup (p.Ser279fs) rs886037958
NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs) rs1555441032
NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter) rs1567152003
NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter)
NM_001082575.2(RBFOX3):c.861C>A (p.Tyr287Ter) rs972548690
NM_001112741.1(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys) rs780658554
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser) rs1554759745
NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser) rs1441152520
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1007+1G>T rs397518465
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu)
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1639_1641del (p.Ser547del) rs1555494676
NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer)
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) rs1060503228
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) rs1555492769
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.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser) rs1555491648
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr) rs762659685
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr) rs1555488144
NM_001134407.3(GRIN2A):c.2200G>C (p.Val734Leu) rs1439688451
NM_001134407.3(GRIN2A):c.2346_2356+8del rs1064795143
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) rs1250662891
NM_001134407.3(GRIN2A):c.2441T>C (p.Ile814Thr) rs780654733
NM_001134407.3(GRIN2A):c.2710A>T (p.Ile904Phe) rs1555482933
NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter) rs397518467
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser) rs886039239
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs)
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr) rs1238779318
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly) rs137853333
NM_001161352.2(KCNMA1):c.2824G>A (p.Glu942Lys) rs1554966197
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001242897.2(DEPDC5):c.-57G>C rs1383795440
NM_001242897.2(DEPDC5):c.1018del (p.Val340fs)
NM_001242897.2(DEPDC5):c.1093_1099dup (p.Val367fs) rs886039258
NM_001242897.2(DEPDC5):c.1114C>T (p.Gln372Ter) rs886039259
NM_001242897.2(DEPDC5):c.1122del (p.Leu374fs) rs879255234
NM_001242897.2(DEPDC5):c.1133del (p.Pro378fs) rs1568955379
NM_001242897.2(DEPDC5):c.1224C>A (p.Tyr408Ter)
NM_001242897.2(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242897.2(DEPDC5):c.132dup (p.Asn45fs) rs886039244
NM_001242897.2(DEPDC5):c.1385_1386del (p.Ala461_Tyr462insTer) rs1555882921
NM_001242897.2(DEPDC5):c.1393C>T (p.Gln465Ter) rs886039260
NM_001242897.2(DEPDC5):c.1453C>T (p.Arg485Ter) rs1568991466
NM_001242897.2(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459
NM_001242897.2(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242897.2(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973
NM_001242897.2(DEPDC5):c.1750_1756del (p.Leu584fs) rs886039262
NM_001242897.2(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242897.2(DEPDC5):c.1845del (p.Arg615fs) rs1060501487
NM_001242897.2(DEPDC5):c.1870+2315C>T rs780960812
NM_001242897.2(DEPDC5):c.1870+2342dup rs1569012755
NM_001242897.2(DEPDC5):c.1870+3481C>T rs181347577
NM_001242897.2(DEPDC5):c.1870+3527A>C rs370940232
NM_001242897.2(DEPDC5):c.1901C>T (p.Ser634Phe) rs16989535
NM_001242897.2(DEPDC5):c.193+1G>A rs886039245
NM_001242897.2(DEPDC5):c.2091T>A (p.Tyr697Ter)
NM_001242897.2(DEPDC5):c.2121-2A>G rs797044545
NM_001242897.2(DEPDC5):c.2156del (p.Gln719fs) rs886039264
NM_001242897.2(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563
NM_001242897.2(DEPDC5):c.2258_2259insAGA (p.Ser753delinsArgAsp) rs1555897392
NM_001242897.2(DEPDC5):c.2278C>T (p.Arg760Ter) rs1569067939
NM_001242897.2(DEPDC5):c.2293C>T (p.Arg765Ter) rs541024038
NM_001242897.2(DEPDC5):c.2357C>T (p.Thr786Met) rs564667614
NM_001242897.2(DEPDC5):c.2386C>T (p.Arg796Ter) rs578185749
NM_001242897.2(DEPDC5):c.2660_2685del (p.His887fs) rs1555900914
NM_001242897.2(DEPDC5):c.268G>A (p.Val90Ile) rs768456731
NM_001242897.2(DEPDC5):c.279+1G>A rs886039246
NM_001242897.2(DEPDC5):c.2812C>T (p.Gln938Ter) rs886039265
NM_001242897.2(DEPDC5):c.3007A>C (p.Thr1003Pro) rs142540948
NM_001242897.2(DEPDC5):c.3025C>T (p.Arg1009Ter) rs587777458
NM_001242897.2(DEPDC5):c.3030+3812C>T rs371377906
NM_001242897.2(DEPDC5):c.3144del (p.Ile1048fs) rs886039266
NM_001242897.2(DEPDC5):c.3184A>G (p.Ser1062Gly) rs886039280
NM_001242897.2(DEPDC5):c.3247del (p.Ala1083fs) rs1569166925
NM_001242897.2(DEPDC5):c.3396+5G>A rs886039267
NM_001242897.2(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224
NM_001242897.2(DEPDC5):c.3502C>T (p.Arg1168Ter) rs886039268
NM_001242897.2(DEPDC5):c.3568C>T (p.Gln1190Ter) rs1569186093
NM_001242897.2(DEPDC5):c.3694C>T (p.Arg1232Ter) rs886039269
NM_001242897.2(DEPDC5):c.3733+5A>G rs886039270
NM_001242897.2(DEPDC5):c.3807G>A (p.Trp1269Ter) rs587776975
NM_001242897.2(DEPDC5):c.3887del (p.Ala1296fs) rs886039271
NM_001242897.2(DEPDC5):c.3907C>T (p.Gln1303Ter)
NM_001242897.2(DEPDC5):c.3961del (p.Glu1321fs) rs886039272
NM_001242897.2(DEPDC5):c.4097G>A (p.Trp1366Ter) rs886039273
NM_001242897.2(DEPDC5):c.4146dup (p.Val1383fs)
NM_001242897.2(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242897.2(DEPDC5):c.4201C>T (p.Gln1401Ter)
NM_001242897.2(DEPDC5):c.4201_4202dup (p.Gln1401fs) rs1569254004
NM_001242897.2(DEPDC5):c.4267C>T (p.Gln1423Ter) rs797044546
NM_001242897.2(DEPDC5):c.4306C>T (p.Gln1436Ter) rs886039274
NM_001242897.2(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001242897.2(DEPDC5):c.435G>A (p.Trp145Ter) rs886039247
NM_001242897.2(DEPDC5):c.454_455del (p.Met152fs) rs886039248
NM_001242897.2(DEPDC5):c.484-1G>A rs886039249
NM_001242897.2(DEPDC5):c.489_491del (p.Phe164del) rs587776974
NM_001242897.2(DEPDC5):c.492_496del (p.Arg165fs) rs886039250
NM_001242897.2(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242897.2(DEPDC5):c.59-1G>C rs886039243
NM_001242897.2(DEPDC5):c.624+1G>A rs886039252
NM_001242897.2(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242897.2(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001242897.2(DEPDC5):c.730C>T (p.Gln244Ter) rs886039253
NM_001242897.2(DEPDC5):c.783_786del (p.Asn261fs) rs886039254
NM_001242897.2(DEPDC5):c.784_785GA[2] (p.Arg263fs) rs1569523728
NM_001242897.2(DEPDC5):c.788_792GAAGA[1] (p.Glu265fs)
NM_001242897.2(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242897.2(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242897.2(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667
NM_001242897.2(DEPDC5):c.918C>G (p.Tyr306Ter) rs886039256
NM_001242897.2(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001242897.2(DEPDC5):c.985del (p.Thr329fs) rs886039257
NM_001271.4(CHD2):c.149G>A (p.Gly50Asp) rs1555437424
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320
NM_001271.4(CHD2):c.4829C>T (p.Ala1610Val) rs1555445693
NM_001320643.3(SIK1B):c.379C>T (p.Arg127Trp) rs1555841977
NM_001365999.1(SZT2):c.105C>G (p.Phe35Leu) rs1553138299
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787
NM_001365999.1(SZT2):c.3977C>T (p.Ala1326Val) rs747241860
NM_001365999.1(SZT2):c.4135C>T (p.Arg1379Trp) rs752473314
NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His) rs562214305
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) rs147748994
NM_001365999.1(SZT2):c.5938G>A (p.Val1980Met) rs780805483
NM_001365999.1(SZT2):c.7112A>T (p.Glu2371Val) rs1306918506
NM_001365999.1(SZT2):c.7887G>A (p.Met2629Ile) rs748723710
NM_001365999.1(SZT2):c.8803C>T (p.Arg2935Trp) rs1553154643
NM_001365999.1(SZT2):c.8939C>T (p.Thr2980Ile) rs766294629
NM_001492.6(GDF1):c.-1049C>T rs561672108
NM_001492.6(GDF1):c.-774C>G rs200024180
NM_001909.4:c.486-12G>A
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys) rs121912790
NM_001909.5(CTSD):c.1196G>A (p.Arg399His) rs797045138
NM_001909.5(CTSD):c.446G>T (p.Gly149Val) rs797045137
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile) rs121912789
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter) rs786205105
NM_002087.3(GRN):c.1414-2A>G rs1555611412
NM_002087.3(GRN):c.709-2A>G rs63750548
NM_002087.3(GRN):c.80dup (p.Val28fs) rs1392550887
NM_002087.3(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.3(GRN):c.836-1G>C rs63751296
NM_002087.3(GRN):c.991C>T (p.Gln331Ter) rs1567887496
NM_002977.3(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643
NM_002977.3(SCN9A):c.1946C>T (p.Thr649Met) rs200965749
NM_002977.3(SCN9A):c.2969A>G (p.Tyr990Cys) rs199692186
NM_002977.3(SCN9A):c.3316G>T (p.Val1106Leu) rs200817435
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) rs752396911
NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala) rs397514732
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu) rs397514733
NM_003793.4(CTSF):c.213+1G>C rs797045136
NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys) rs143889283
NM_003793.4(CTSF):c.843_844del (p.Ala282fs) rs1555058286
NM_003793.4(CTSF):c.954del (p.Ser319fs) rs753084727
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg) rs397514731
NM_004287.3(GOSR2):c.336+1G>A rs141554661
NM_004287.3(GOSR2):c.430G>T rs387906881
NM_004287.4(GOSR2):c.184A>T (p.Lys62Ter)
NM_004287.4(GOSR2):c.485_487AGA[2] (p.Lys164del) rs863223401
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) rs147896487
NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr) rs1381851622
NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val) rs1554626549
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246
NM_005025.4(SERPINI1):c.1013A>G (p.His338Arg) rs121909052
NM_005025.4(SERPINI1):c.1174G>A (p.Gly392Arg) rs121909054
NM_005025.4(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_005025.4(SERPINI1):c.145T>C (p.Ser49Pro) rs121909051
NM_005025.4(SERPINI1):c.154A>C (p.Ser52Arg)
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) rs768119894
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.4(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.4(RELN):c.2531C>T (p.Pro844Leu) rs797045000
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902
NM_005045.4(RELN):c.5791A>G (p.Asn1931Asp) rs369993428
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys) rs794727997
NM_005045.4(RELN):c.8843+3A>C rs200124755
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys) rs794727999
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter) rs751409835
NM_005076.5(CNTN2):c.504del (p.Trp168fs) rs398122387
NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser) rs869025201
NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) rs1060502053
NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) rs28937874
NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer) rs1554907767
NM_005097.4(LGI1):c.124T>C (p.Cys42Arg) rs797044996
NM_005097.4(LGI1):c.124T>G (p.Cys42Gly) rs797044996
NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter) rs1554907787
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu) rs797044999
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) rs797044998
NM_005097.4(LGI1):c.1580_1581del (p.His527fs)
NM_005097.4(LGI1):c.360-3C>A
NM_005097.4(LGI1):c.365T>A (p.Ile122Lys) rs119488100
NM_005097.4(LGI1):c.386C>G (p.Ser129Ter) rs1564845068
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099
NM_005097.4(LGI1):c.688C>T (p.Gln230Ter) rs1060502054
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) rs104894167
NM_005097.4(LGI1):c.758del (p.Ala253fs) rs797044997
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) rs28939075
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129
NM_005506.4(SCARB2):c.1016dup (p.His341fs) rs886041077
NM_005506.4(SCARB2):c.1087C>A (p.His363Asn) rs758857853
NM_005506.4(SCARB2):c.1114-2A>C rs727502781
NM_005506.4(SCARB2):c.111del (p.Ile37fs) rs886041072
NM_005506.4(SCARB2):c.1187+2dup rs727502783
NM_005506.4(SCARB2):c.1239+1G>T rs727502772
NM_005506.4(SCARB2):c.1258del (p.Glu420fs) rs727502782
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078
NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC (p.Gly462fs) rs886041079
NM_005506.4(SCARB2):c.1412A>G (p.Glu471Gly) rs755903502
NM_005506.4(SCARB2):c.296del (p.Asn99fs) rs886041073
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005506.4(SCARB2):c.367dup (p.Gln123fs) rs1553948516
NM_005506.4(SCARB2):c.424-2A>C rs886041074
NM_005506.4(SCARB2):c.432_433AG[3] (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter) rs121909119
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer) rs886041075
NM_005506.4(SCARB2):c.704+1G>A rs886041076
NM_005506.4(SCARB2):c.704+1G>C rs886041076
NM_005506.4(SCARB2):c.704+5G>A rs774271963
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118
NM_005670.4(EPM2A):c.314A>G (p.His105Arg) rs1554263366
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) rs587776553
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554
NM_006493.4(CLN5):c.1026_1027AT[1] (p.Thr342_Tyr343insTer) rs386833969
NM_006493.4(CLN5):c.112_113insATCCGGGCTGG (p.Val38fs) rs1555273604
NM_006493.4(CLN5):c.187del (p.Arg63fs) rs1555273881
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr) rs267606738
NM_006493.4(CLN5):c.371del (p.Ser124fs) rs794729218
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr) rs1566219136
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) rs1555274005
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter) rs869312751
NM_006493.4(CLN5):c.566-42_*46del rs1555274312
NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs)
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280
NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter) rs764790770
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) rs730882146
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) rs121908292
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100
NM_006516.3(SLC2A1):c.1010A>T (p.His337Leu) rs1553155982
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro) rs886037965
NM_006545.5(NPRL2):c.68_69del (p.Ile23fs) rs886037966
NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter) rs886037964
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln) rs774195502
NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn) rs755440336
NM_006922.4(SCN3A):c.4114A>G (p.Met1372Val) rs758906955
NM_007327.4(GRIN1):c.2504T>C (p.Ile835Thr) rs1554770659
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr) rs147815978
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032
NM_014141.6(CNTNAP2):c.2290C>A (p.His764Asn) rs201446615
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346
NM_015192.4(PLCB1):c.3382C>T (p.His1128Tyr) rs1555790846
NM_015973.5(GAL):c.116C>A (p.Ala39Glu) rs1057517661
NM_016097.5(IER3IP1):c.*58T>C rs150586939
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp) rs144234059
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) rs154774640
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) rs154774636
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) rs154774633
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn) rs1567096598
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) rs786205067
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.393_394CT[1] (p.Ser132fs) rs774543080
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.511_513TAT[1] (p.Tyr172del) rs121908079
NM_017882.3(CLN6):c.542+5G>T rs786205066
NM_017882.3(CLN6):c.552dup (p.Phe185fs) rs1567095153
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) rs104894486
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194
NM_017882.3(CLN6):c.791_793CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.7del (p.Ala3fs) rs786205065
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) rs1381427322
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) rs137852777
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser) rs145873257
NM_018723.4(RBFOX1):c.538G>A (p.Val180Met) rs372761949
NM_018723.4(RBFOX1):c.677-5C>T rs147023054
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del) rs974157467
NM_018941.3(CLN8):c.181_183del (p.Lys61del) rs386834123
NM_018941.3(CLN8):c.1A>G (p.Met1Val) rs143730802
NM_018941.3(CLN8):c.295C>T (p.Gln99Ter)
NM_018941.3(CLN8):c.499G>T (p.Glu167Ter) rs144495588
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_018941.3(CLN8):c.66del (p.Ile23fs) rs34238807
NM_018941.3(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_018941.3(CLN8):c.789G>C (p.Trp263Cys) rs28940569
NM_018941.3(CLN8):c.792C>G (p.Asn264Lys) rs587779411
NM_018941.3(CLN8):c.88G>C (p.Ala30Pro) rs137852883
NM_018941.3(CLN8):c.88del (p.Ala30fs) rs386834139
NM_020226.3(PRDM8):c.781T>C (p.Phe261Leu) rs863225286
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) rs199576384
NM_020361.5(CPA6):c.587A>G (p.His196Arg) rs376266840
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) rs397515402
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) rs397515404
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) rs1060503696
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile) rs797044544
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) rs886043455
NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) rs886043455
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_024700.4(SNIP1):c.331C>T (p.Arg111Cys) rs202020647
NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del) rs587776892
NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg) rs387907043
NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup)
NM_032737.4(LMNB2):c.469C>T (p.His157Tyr) rs797045143
NM_152778.3(MFSD8):c.1036del (p.Val346fs) rs1439582451
NM_152778.3(MFSD8):c.1086del (p.Ile364fs) rs1460276679
NM_152778.3(MFSD8):c.1102G>C (p.Asp368His) rs727502800
NM_152778.3(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970
NM_152778.3(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235
NM_152778.3(MFSD8):c.1286G>A (p.Gly429Asp) rs118203976
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.3(MFSD8):c.233G>A (p.Trp78Ter)
NM_152778.3(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_152778.3(MFSD8):c.416G>A (p.Arg139His) rs749704755
NM_152778.3(MFSD8):c.64G>T (p.Glu22Ter) rs1560776422
NM_152778.3(MFSD8):c.754+2T>A rs587778809
NM_152778.3(MFSD8):c.831dup (p.Val278fs)
NM_152778.3(MFSD8):c.863+1G>A rs200319160
NM_152778.3(MFSD8):c.863+3_863+4insT rs727502801
NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_152778.3(MFSD8):c.894T>G (p.Tyr298Ter) rs118203977
NM_152778.3(MFSD8):c.929G>A (p.Gly310Asp) rs118203975
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563
NM_153033.4(KCTD7):c.280C>T (p.Arg94Trp) rs387907260
NM_153033.4(KCTD7):c.295C>T (p.Arg99Ter) rs267607199
NM_153033.4(KCTD7):c.322C>A (p.Leu108Met) rs387907263
NM_153033.4(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_153033.4(KCTD7):c.343G>T (p.Asp115Tyr) rs387907262
NM_153033.4(KCTD7):c.594del (p.Ile199fs) rs727502785
NM_153033.4(KCTD7):c.818A>T (p.Asn273Ile) rs387907261
NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met) rs201868078
NM_172107.4(KCNQ2):c.910_912TTC[1] (p.Phe305del) rs118192212
NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530
NM_172218.2(SPAG1):c.2542del (p.Asp848fs) rs886037653
NM_172218.2(SPAG1):c.679G>T (p.Glu227Ter) rs397518459
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter)
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter) rs121917875
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala) rs137852859
NM_198586.3(NHLRC1):c.992del (p.Gly331fs) rs587776543
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644
NM_198859.4(PRICKLE2):c.380del (p.Gly127fs) rs797045065
NM_198903.2(GABRG2):c.1088G>A (p.Arg363Gln) rs397514737
NM_198903.2(GABRG2):c.549-3T>G rs750459631
NM_198903.2(GABRG2):c.889G>A (p.Gly297Arg) rs1554098235
PPT1, 1-BP INS, 169A
PPT1, 451C-T
SAMD12, 5-BP INS, TTTCA(n)
SCN3A, LEU247PRO
m.13042G>A rs267606898
m.15923A>G rs1556424691
m.15967G>A rs199474701
m.3256C>T rs199474659
m.3271T>C rs199474658
m.4284G>A rs121434468
m.611G>A rs118203886
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8361G>A rs118192104
m.8363G>A rs118192100

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