ClinVar Miner

Variants with conflicting interpretations studied for History of neurodevelopmental disorder

Coded as:
Minimum review status of the submission for History of neurodevelopmental disorder: Collection method of the submission for History of neurodevelopmental disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1963 1130 0 1080 539 0 19 1478

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
History of neurodevelopmental disorder pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 7 1 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 0 10 0 98 30
likely benign 1 2 351 0 583
benign 1 3 74 486 0

Condition to condition summary #

Total conditions: 26
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
not specified 0 931 0 848 204 0 1 1026
not provided 0 731 0 363 362 0 13 699
Intellectual Disability, Recessive 0 11 0 7 10 0 0 17
none provided 0 66 0 13 1 0 0 14
Spastic paraplegia 0 16 0 11 1 0 0 12
GLUT1 deficiency syndrome 1, autosomal recessive 0 12 0 6 1 0 0 7
heterogeneous nuclear ribonucleoprotein G, human 0 2 0 6 0 0 0 6
Cardiovascular phenotype 0 114 0 1 2 0 0 3
Charcot-Marie-Tooth Neuropathy X 0 0 0 3 0 0 0 3
Seizures 0 3 0 0 3 0 0 3
Abnormality of brain morphology 0 0 0 0 0 0 2 2
Autistic disorder of childhood onset 0 0 0 0 2 0 0 2
MBD5 associated neurodevelopmental disorder 0 0 0 0 0 0 2 2
Mental retardation, CASK-related, X-linked 0 8 0 1 1 0 0 2
22q13.3 deletion syndrome; Schizophrenia 15 0 0 0 0 1 0 0 1
Aortic dilatation 0 0 0 0 1 0 0 1
Ataxia _ Neurologic (child onset); Non-progressive congenital cerebellar ataxia 0 0 0 1 0 0 0 1
Chronic and progressive ataxia 0 0 0 1 0 0 0 1
Congenital cataract 0 0 0 0 1 0 0 1
Disrupted sleep-wake cycle with developmental delay and learning difficulty 0 0 0 0 0 0 1 1
Global developmental delay; Seizures 0 0 0 1 0 0 0 1
History of neurodevelopmental disorder 4570 0 0 0 1 0 0 1
Intellectual Disability, Dominant 0 0 0 0 1 0 0 1
Mental retardation-hypotonic facies syndrome, X-linked 0 0 0 1 0 0 0 1
Seizures; Generalized tonic-clonic seizures; Absence seizures 0 0 0 0 1 0 0 1
Smith-Magenis Syndrome-like 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 1478
Download table as spreadsheet
HGVS dbSNP
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup) rs779931959
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn) rs753228876
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000167.5(GK):c.1095G>A (p.Ser365=) rs139652893
NM_000167.5(GK):c.730-5A>T rs186543786
NM_000202.8(IDS):c.1074C>G (p.Pro358=) rs61736891
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000240.3(MAOA):c.1410T>C (p.Asp470=) rs1137070
NM_000240.3(MAOA):c.385A>C (p.Arg129=) rs1800464
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000240.3(MAOA):c.891G>T (p.Arg297=) rs6323
NM_000266.4(NDP):c.101C>T (p.Ser34Leu) rs144031424
NM_000276.4(OCRL):c.105G>A (p.Arg35=) rs142321728
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000276.4(OCRL):c.439+3A>G rs61752971
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000310.3(PPT1):c.627+4A>G rs572153728
NM_000310.3(PPT1):c.837G>C (p.Gln279His) rs72937434
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000310.4(PPT1):c.363-4G>A rs117284255
NM_000368.4(TSC1):c.1218C>T (p.Tyr406=) rs373465241
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.782A>G (p.Lys261Arg) rs371225009
NM_000381.4(MID1):c.1230C>T (p.Ser410=) rs16986145
NM_000381.4(MID1):c.1698A>G (p.Glu566=) rs34554583
NM_000381.4(MID1):c.250G>A (p.Asp84Asn) rs374851071
NM_000381.4(MID1):c.588C>G (p.Ala196=) rs41303167
NM_000489.5(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.5(ATRX):c.2785= (p.Glu929=) rs3088074
NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.4035G>A (p.Leu1345=) rs111725949
NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del) rs398123423
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.5(ATRX):c.4810-3T>C rs370596323
NM_000489.5(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.5(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000489.5(ATRX):c.6640T>G (p.Leu2214Val) rs782396522
NM_000489.5(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000533.5(PLP1):c.168A>G (p.Gln56=) rs2233697
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala) rs757113497
NM_000548.5(TSC2):c.1258-5G>T rs925954967
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr) rs760896048
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=) rs747104674
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu) rs45517341
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val) rs121917810
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg) rs186867242
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787
NM_000834.4(GRIN2B):c.1125+5G>A rs3751257
NM_000834.4(GRIN2B):c.1338A>G (p.Thr446=) rs141031272
NM_000834.4(GRIN2B):c.15G>A (p.Ala5=) rs34315573
NM_000834.4(GRIN2B):c.1665C>T (p.Ser555=) rs1805482
NM_000834.4(GRIN2B):c.1806C>T (p.Ile602=) rs1805522
NM_000834.4(GRIN2B):c.1851C>T (p.Ser617=) rs147373250
NM_000834.4(GRIN2B):c.2202A>G (p.Ala734=) rs148185805
NM_000834.4(GRIN2B):c.228C>T (p.Thr76=) rs77299791
NM_000834.4(GRIN2B):c.2514C>T (p.Cys838=) rs3026160
NM_000834.4(GRIN2B):c.2628G>A (p.Ala876=) rs199710029
NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=) rs35125534
NM_000834.4(GRIN2B):c.2703G>A (p.Leu901=) rs145005918
NM_000834.4(GRIN2B):c.291G>A (p.Val97=) rs202223470
NM_000834.4(GRIN2B):c.3047G>A (p.Arg1016Lys) rs141109968
NM_000834.4(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596
NM_000834.4(GRIN2B):c.3117C>T (p.Tyr1039=) rs147762014
NM_000834.4(GRIN2B):c.3534C>T (p.His1178=) rs1806191
NM_000834.4(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903
NM_000834.4(GRIN2B):c.366C>G (p.Pro122=) rs7301328
NM_000834.4(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137
NM_000834.4(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200
NM_000834.4(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225
NM_000834.4(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012
NM_000834.4(GRIN2B):c.4197T>C (p.His1399=) rs1805247
NM_000834.4(GRIN2B):c.4240G>T (p.Ala1414Ser) rs140744818
NM_000834.4(GRIN2B):c.4311C>T (p.Ala1437=) rs112265127
NM_000834.4(GRIN2B):c.504C>A (p.Ile168=) rs36031537
NM_000834.4(GRIN2B):c.870C>T (p.Pro290=) rs1124894
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) rs61742545
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) rs41298498
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613
NM_001008537.3(NEXMIF):c.4205A>G (p.Asn1402Ser) rs140532942
NM_001015877.2(PHF6):c.729+4A>G rs188961105
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602
NM_001029896.2(WDR45):c.944A>C (p.Asn315Thr) rs782562675
NM_001039891.3(ZNF674):c.1028C>T (p.Thr343Met) rs61730637
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_001040142.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939
NM_001040142.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667
NM_001040616.3(LINS1):c.1124C>T (p.Thr375Ile) rs143097819
NM_001040616.3(LINS1):c.1194A>G (p.Gln398=) rs138347314
NM_001040616.3(LINS1):c.1285C>T (p.Leu429=) rs141962847
NM_001040616.3(LINS1):c.1302G>A (p.Pro434=) rs148166631
NM_001040616.3(LINS1):c.1479T>C (p.Cys493=) rs144513217
NM_001040616.3(LINS1):c.1887C>T (p.Tyr629=) rs61999313
NM_001040616.3(LINS1):c.2027A>G (p.Glu676Gly) rs150348863
NM_001040616.3(LINS1):c.2119G>A (p.Gly707Arg) rs74039425
NM_001040616.3(LINS1):c.52G>A (p.Gly18Arg) rs141782332
NM_001040616.3(LINS1):c.615A>G (p.Ser205=) rs148622636
NM_001040616.3(LINS1):c.718C>T (p.Arg240Trp) rs145145735
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746
NM_001083962.2(TCF4):c.1486+4G>C rs201274415
NM_001083962.2(TCF4):c.1704G>A (p.Glu568=) rs144068462
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys) rs139876825
NM_001083962.2(TCF4):c.413C>G (p.Thr138Ser) rs796053416
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994
NM_001083962.2(TCF4):c.936C>T (p.Ser312=) rs368270265
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser) rs149808406
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu) rs199754211
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val) rs199505558
NM_001099922.3(ALG13):c.2573A>G (p.Asn858Ser) rs756238772
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338
NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala) rs753556936
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=) rs782615607
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001110556.2(FLNA):c.2023-4C>G rs368719012
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) rs371707134
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001110556.2(FLNA):c.2609A>G (p.His870Arg) rs200679107
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) rs782265007
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.2(FLNA):c.5313+4C>T rs377330443
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser) rs373089783
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys) rs782069230
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247
NM_001110556.2(FLNA):c.6607G>A (p.Val2203Ile) rs782562592
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822
NM_001110556.2(FLNA):c.66C>T (p.Asp22=) rs782358007
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310
NM_001110556.2(FLNA):c.759C>T (p.Asp253=) rs782701643
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) rs371724771
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720
NM_001110792.2(MECP2):c.723G>T (p.Ser241=) rs782461567
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063
NM_001110792.2(MECP2):c.81C>T (p.Asp27=) rs782168400
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln) rs782420335
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) rs17145653
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.408C>T (p.Ala136=) rs139802143
NM_001123385.2(BCOR):c.4977-4G>T rs5963725
NM_001123385.2(BCOR):c.780C>T (p.Ser260=) rs1430817668
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610
NM_001127222.2(CACNA1A):c.2968_2973GAGGGC[4] (p.990_991EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys) rs780535727
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) rs202002033
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His) rs572722130
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077
NM_001127222.2(CACNA1A):c.6630_6632CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630_6632CCA[8] (p.His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del) rs776181081
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del) rs749638821
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=) rs139329447
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=) rs372058698
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806
NM_001134407.3(GRIN2A):c.2627T>C (p.Ile876Thr) rs199784503
NM_001134407.3(GRIN2A):c.2694C>T (p.Leu898=) rs569998469
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly) rs372353067
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001134407.3(GRIN2A):c.447G>A (p.Ala149=) rs144464666
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=) rs143594020
NM_001134407.3(GRIN2A):c.669C>T (p.His223=) rs138117658
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=) rs141912603
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725
NM_001134407.3(GRIN2A):c.900C>T (p.Thr300=) rs143669998
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=) rs78241448
NM_001134407.3(GRIN2A):c.939C>T (p.Ile313=) rs146867324
NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=) rs145172949
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=) rs148976893
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=) rs34179337
NM_001160372.4(TRAPPC9):c.159C>T (p.Leu53=) rs112997540
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=) rs117685875
NM_001160372.4(TRAPPC9):c.198C>T (p.Asn66=) rs142627115
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=) rs11166965
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202
NM_001160372.4(TRAPPC9):c.2742C>T (p.Thr914=) rs28710457
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) rs114949291
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=) rs2614718
NM_001160372.4(TRAPPC9):c.2811-5C>T rs534788967
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802
NM_001160372.4(TRAPPC9):c.2988G>A (p.Glu996=) rs142048892
NM_001160372.4(TRAPPC9):c.3012C>T (p.Asn1004=) rs148805943
NM_001160372.4(TRAPPC9):c.3069C>T (p.Asp1023=) rs144383785
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys) rs147499593
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile) rs35578974
NM_001160372.4(TRAPPC9):c.3225C>T (p.Tyr1075=) rs58740567
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=) rs112551069
NM_001160372.4(TRAPPC9):c.3279+4C>T rs79877357
NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=) rs148857575
NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=) rs373979305
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg) rs147127279
NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met) rs140157207
NM_001160372.4(TRAPPC9):c.357G>A (p.Gly119=) rs34457678
NM_001160372.4(TRAPPC9):c.399T>C (p.Ala133=) rs61739560
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803
NM_001160372.4(TRAPPC9):c.414C>T (p.Tyr138=) rs115986561
NM_001160372.4(TRAPPC9):c.555G>A (p.Lys185=) rs57593250
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=) rs61736350
NM_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001164617.2(GPC3):c.1354G>A (p.Val452Met) rs11539789
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=) rs142571794
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=) rs145662732
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=) rs145035963
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) rs145101180
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=) rs780391343
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) rs375896308
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271
NM_001170629.2(CHD8):c.6054T>C (p.Ser2018=) rs61752836
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090
NM_001170629.2(CHD8):c.6207G>A (p.Ser2069=) rs370827611
NM_001170629.2(CHD8):c.6312G>A (p.Glu2104=) rs118140634
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys) rs200465274
NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln) rs573063062
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe) rs192989929
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg) rs201621696
NM_001195553.2(DCX):c.588T>C (p.Arg196=) rs138706968
NM_001195553.2(DCX):c.856G>T (p.Ala286Ser) rs149495971
NM_001195553.2(DCX):c.948A>C (p.Ala316=) rs770799939
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=) rs114201291
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) rs34249695
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) rs34751342
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=) rs17464525
NM_001253852.3(AP4B1):c.69A>G (p.Gln23=) rs117872964
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu) rs200120256
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp) rs0
NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile) rs1359060187
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798
NM_001271.4(CHD2):c.2730A>T (p.Val910=) rs77895180
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.330G>A (p.Arg110=) rs138626801
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) rs79219767
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=) rs35339954
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr) rs780701076
NM_001271.4(CHD2):c.4990C>G (p.Gln1664Glu) rs1057522158
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser) rs772907727
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) rs749147803
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554
NM_001272071.2(AP1S2):c.288T>C (p.Ser96=) rs61741688
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=) rs201131192
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397
NM_001278116.2(L1CAM):c.2274G>A (p.Gly758=) rs2071643
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=) rs4898371
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) rs781908326
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=) rs146526273
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) rs140678848
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893
NM_001281463.1(SMC1A):c.*14C>T rs112727682
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=) rs142611198
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr) rs200625964
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val) rs564373258
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) rs142247083
NM_001282531.3(ADNP):c.393G>A (p.Pro131=) rs201360495
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899
NM_001291867.2(NHS):c.207_209GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr) rs149609550
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup) rs398124607
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=) rs56908561
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=) rs56691712
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) rs145005596
NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met) rs141013518
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295
NM_001291867.2(NHS):c.4043G>A (p.Arg1348His) rs141525588
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn) rs148418212
NM_001303626.1(RPL10):c.*156= rs4909
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158
NM_001318510.2(ACSL4):c.806+3A>G rs183171123
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732
NM_001330078.2(NRXN1):c.2193C>T (p.Leu731=) rs201466898
NM_001330078.2(NRXN1):c.2274C>A (p.Thr758=) rs78030925
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497
NM_001330078.2(NRXN1):c.3165A>G (p.Ser1055=) rs1553656447
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) rs75275592
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) rs563089155
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=) rs116236999
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=) rs74714098
NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=) rs143446587
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=) rs151195816
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) rs112536447
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982
NM_001330078.2(NRXN1):c.833-5T>G rs199712573
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298
NM_001330260.2(SCN8A):c.1215G>A (p.Leu405=) rs751093826
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=) rs187115247
NM_001330260.2(SCN8A):c.1509C>A (p.Leu503=) rs376749872
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001330260.2(SCN8A):c.1999-5del rs769940455
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=) rs1349215930
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
NM_001330260.2(SCN8A):c.4779C>T (p.Val1593=) rs12301486
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953
NM_001330260.2(SCN8A):c.751C>T (p.Leu251=) rs200307006
NM_001330574.2(ZNF711):c.2106A>G (p.Thr702=) rs138675194
NM_001330574.2(ZNF711):c.453A>C (p.Gly151=) rs139906124
NM_001330574.2(ZNF711):c.798A>G (p.Thr266=) rs72549428
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=) rs138086853
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) rs56375542
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val) rs781988728
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=) rs373866956
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637
NM_001356.4(DDX3X):c.969T>C (p.Thr323=) rs368366114
NM_001360.2(DHCR7):c.1092G>A (p.Thr364=) rs35946774
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1362G>A (p.Lys454=) rs147850435
NM_001360.2(DHCR7):c.1365C>T (p.Tyr455=) rs557097410
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.139C>T (p.Leu47=) rs140721259
NM_001360.2(DHCR7):c.1410G>A (p.Leu470=) rs375993195
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.226G>A (p.Val76Ile) rs368473756
NM_001360.2(DHCR7):c.25A>T (p.Ile9Phe) rs115595829
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.549C>T (p.Cys183=) rs115446684
NM_001360.2(DHCR7):c.570C>T (p.Ala190=) rs74909468
NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
NM_001360.2(DHCR7):c.987C>T (p.Pro329=) rs145901607
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295
NM_001367721.1(CASK):c.1411G>A (p.Asp471Asn) rs201435578
NM_001367721.1(CASK):c.2172T>C (p.Asp724=) rs199730401
NM_001367721.1(CASK):c.2175T>C (p.Leu725=) rs757563548
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=) rs35143882
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.5(DYNC1H1):c.11691-4G>T rs201810550
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=) rs17540624
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=) rs146220233
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001482.3(GATM):c.1041C>T (p.Asp347=) rs139599307
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534
NM_001482.3(GATM):c.48G>T (p.Ala16=) rs587780951
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277
NM_001493.3(GDI1):c.219T>C (p.Asn73=) rs4834
NM_001493.3(GDI1):c.324C>T (p.Ser108=) rs2230286
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) rs143889976
NM_002024.6(FMR1):c.1857C>T (p.Asp619=) rs45540244
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) rs41303733
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) rs146588152
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) rs140296303
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) rs150174049
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.333-3T>C rs146749153
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931
NM_003042.4(SLC6A1):c.480G>T (p.Pro160=) rs116620331
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=) rs35450949
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=) rs77070978
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=) rs61736900
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212
NM_003070.5(SMARCA2):c.669_671GCA[12] (p.Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669_671GCA[15] (p.Gln237_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525
NM_003159.2(CDKL5):c.2867G>A (p.Arg956His) rs376557374
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003165.4(STXBP1):c.1320C>T (p.Ile440=) rs370249358
NM_003165.4(STXBP1):c.1351G>A (p.Val451Ile) rs150259704
NM_003165.4(STXBP1):c.1356C>T (p.Thr452=) rs35099393
NM_003165.4(STXBP1):c.1404C>A (p.Ile468=) rs777499631
NM_003165.4(STXBP1):c.1548C>T (p.Ser516=) rs145304925
NM_003165.4(STXBP1):c.1662C>T (p.Tyr554=) rs142595450
NM_003165.4(STXBP1):c.1680C>T (p.Asn560=) rs201809337
NM_003165.4(STXBP1):c.250G>A (p.Val84Ile) rs34830702
NM_003165.4(STXBP1):c.281C>T (p.Pro94Leu) rs200802985
NM_003165.4(STXBP1):c.38-3T>C rs138763389
NM_003165.4(STXBP1):c.627C>T (p.Leu209=) rs567071026
NM_003165.4(STXBP1):c.6C>T (p.Ala2=) rs144094037
NM_003165.4(STXBP1):c.846C>T (p.Asp282=) rs58889246
NM_003165.4(STXBP1):c.888C>T (p.Ile296=) rs201302013
NM_003179.2(SYP):c.877G>A (p.Gly293Ser) rs139475570
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe) rs375698090
NM_003611.3(OFD1):c.2619T>A (p.Ile873=) rs797045847
NM_003611.3(OFD1):c.2631G>A (p.Lys877=) rs797045848
NM_004056.6(CA8):c.309A>G (p.Pro103=) rs73685412
NM_004056.6(CA8):c.327A>G (p.Glu109=) rs7464181
NM_004056.6(CA8):c.334C>T (p.Leu112=) rs61743130
NM_004056.6(CA8):c.576+5G>A rs144839897
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773
NM_004187.5(KDM5C):c.896G>A (p.Ser299Asn) rs782163332
NM_004321.7(KIF1A):c.1476A>G (p.Pro492=) rs35663732
NM_004321.7(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.2208C>T (p.Ala736=) rs35945835
NM_004321.7(KIF1A):c.234C>T (p.Gly78=) rs61744930
NM_004321.7(KIF1A):c.2358C>T (p.Ala786=) rs62637652
NM_004321.7(KIF1A):c.2448C>T (p.Tyr816=) rs199996308
NM_004321.7(KIF1A):c.2631C>T (p.Gly877=) rs751977290
NM_004321.7(KIF1A):c.2655G>C (p.Val885=) rs186881889
NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) rs116297894
NM_004321.7(KIF1A):c.2769C>T (p.Ser923=) rs73102625
NM_004321.7(KIF1A):c.2782G>A (p.Val928Met) rs183359489
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.2979C>T (p.His993=) rs35664935
NM_004321.7(KIF1A):c.3027G>A (p.Ala1009=) rs200149062
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004321.7(KIF1A):c.3549T>C (p.His1183=) rs184931664
NM_004321.7(KIF1A):c.3585C>T (p.Arg1195=) rs144520412
NM_004321.7(KIF1A):c.3840G>A (p.Pro1280=) rs2241683
NM_004321.7(KIF1A):c.393C>T (p.Asn131=) rs35139906
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004321.7(KIF1A):c.4509C>A (p.Thr1503=) rs76974316
NM_004321.7(KIF1A):c.4572G>A (p.Pro1524=) rs201418175
NM_004321.7(KIF1A):c.4614G>A (p.Leu1538=) rs187810230
NM_004321.7(KIF1A):c.4740G>A (p.Gly1580=) rs143815273
NM_004321.7(KIF1A):c.4767G>A (p.Thr1589=) rs201733233
NM_004321.7(KIF1A):c.991T>C (p.Leu331=) rs1063353
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=) rs763852812
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1]) rs778220523
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_004463.3(FGD1):c.1563C>T (p.Pro521=) rs201996522
NM_004463.3(FGD1):c.1617G>A (p.Pro539=) rs151184308
NM_004463.3(FGD1):c.2268C>T (p.Cys756=) rs61734178
NM_004463.3(FGD1):c.2289G>A (p.Lys763=) rs150865566
NM_004463.3(FGD1):c.2568C>T (p.Tyr856=) rs61734179
NM_004463.3(FGD1):c.2757G>A (p.Ala919=) rs61734180
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala) rs147012050
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004484.3(GPC3):c.660C>T (p.Ser220=) rs138450923
NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) rs141100113
NM_004541.4(NDUFA1):c.141G>C (p.Leu47=) rs140064980
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004586.3(RPS6KA3):c.244-5T>C rs192189478
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) rs2230488
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077
NM_004595.5(SMS):c.569C>T (p.Thr190Ile) rs201275730
NM_004595.5(SMS):c.714C>T (p.Gly238=) rs760174828
NM_004595.5(SMS):c.978G>A (p.Ser326=) rs150564614
NM_004615.3(TSPAN7):c.237T>C (p.Ala79=) rs7049247
NM_004615.3(TSPAN7):c.441C>T (p.Ser147=) rs111440990
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_004830.4(MED23):c.2814G>A (p.Ala938=) rs145230681
NM_004830.4(MED23):c.3312T>C (p.Ala1104=) rs77187818
NM_004830.4(MED23):c.40-18dup rs200823095
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg) rs147131853
NM_004840.3(ARHGEF6):c.2007C>T (p.Ser669=) rs12008084
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300
NM_004840.3(ARHGEF6):c.891G>T (p.Gln297His) rs5974620
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.3(MED12):c.6208_6210CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208_6210CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241_6243CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005249.5(FOXG1):c.*4C>T rs774917687
NM_005249.5(FOXG1):c.1161G>A (p.Ser387=) rs147154860
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005249.5(FOXG1):c.141_143CCA[6] (p.His57del) rs587783630
NM_005249.5(FOXG1):c.209_211AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.209_229del (p.Gln70_Pro76del) rs1466028633
NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup) rs587783634
NM_005249.5(FOXG1):c.219_221GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln) rs796052453
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) rs148157138
NM_005333.5(HCCS):c.215C>T (p.Ala72Val) rs2070163
NM_005333.5(HCCS):c.216G>C (p.Ala72=) rs144152239
NM_005445.3(SMC3):c.2007T>C (p.Tyr669=) rs147404470
NM_005445.3(SMC3):c.2268+4C>T rs587784426
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.255A>G (p.Ser85=) rs146433240
NM_005445.3(SMC3):c.255A>T (p.Ser85=) rs146433240
NM_005445.3(SMC3):c.3339A>G (p.Gln1113=) rs189703529
NM_005445.3(SMC3):c.3495T>A (p.Ala1165=) rs142395521
NM_005445.3(SMC3):c.548-5_548-4dup rs199906378
NM_005522.4(HOXA1):c.174G>C (p.Gly58=) rs77832452
NM_005522.4(HOXA1):c.566A>C (p.Glu189Ala) rs17500494
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059
NM_005629.4(SLC6A8):c.777+4C>T rs201581661
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933
NM_005634.2(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005634.2(SOX3):c.157G>C (p.Val53Leu) rs200361128
NM_005660.3(SLC35A2):c.990C>T (p.Leu330=) rs146079657
NM_005710.2(PQBP1):c.180-3C>T rs741932
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522
NM_005859.5(PURA):c.132_134CGG[6] (p.Gly49dup) rs754074166
NM_005859.5(PURA):c.621C>T (p.Asp207=) rs142688247
NM_006013.4(RPL10):c.291C>T (p.Ile97=) rs138325578
NM_006279.5(ST3GAL3):c.1075C>T (p.Leu359=) rs200457973
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=) rs115003742
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044
NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=) rs201204481
NM_006279.5(ST3GAL3):c.900T>C (p.Pro300=) rs563317319
NM_006359.3(SLC9A6):c.*8A>T rs200171451
NM_006359.3(SLC9A6):c.1143G>A (p.Leu381=) rs151178361
NM_006359.3(SLC9A6):c.1607G>A (p.Arg536Gln) rs146263125
NM_006359.3(SLC9A6):c.1659C>T (p.Ser553=) rs2307131
NM_006359.3(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_006359.3(SLC9A6):c.698-5A>G rs1057520615
NM_006516.3(SLC2A1):c.-2C>T rs587784388
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.3(SLC2A1):c.1155C>T (p.Pro385=) rs76860965
NM_006516.3(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205
NM_006516.3(SLC2A1):c.27G>A (p.Thr9=) rs34025424
NM_006516.3(SLC2A1):c.417C>T (p.Phe139=) rs144538918
NM_006516.3(SLC2A1):c.498C>T (p.Val166=) rs150971143
NM_006516.3(SLC2A1):c.507C>T (p.Leu169=) rs115541691
NM_006516.3(SLC2A1):c.679+4C>T rs139492241
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys) rs144755294
NM_006565.4(CTCF):c.1164C>T (p.Ser388=) rs143837268
NM_006565.4(CTCF):c.1887C>T (p.Ala629=) rs149766428
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304
NM_006565.4(CTCF):c.2139C>T (p.Asn713=) rs146712579
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly) rs149459548
NM_006766.5(KAT6A):c.1477C>T (p.Leu493=) rs61753684
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648
NM_006766.5(KAT6A):c.4956A>G (p.Pro1652=) rs201475966
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val) rs750315709
NM_006766.5(KAT6A):c.5913C>T (p.Asn1971=) rs140266175
NM_006766.5(KAT6A):c.5994C>T (p.Asn1998=) rs117270099
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) rs411136
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=) rs375587730
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=) rs555363112
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=) rs145694123
NM_006920.6(SCN1A):c.1378-3T>C rs150964803
NM_006950.3(SYN1):c.1026G>A (p.Ala342=) rs777301855
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_006950.3(SYN1):c.1968G>A (p.Pro656=) rs199844514
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636
NM_006950.3(SYN1):c.526C>T (p.Arg176Trp) rs769458536
NM_006950.3(SYN1):c.912C>T (p.Ala304=) rs62636605
NM_007137.3(ZNF81):c.1911G>A (p.Pro637=) rs663514
NM_007137.3(ZNF81):c.350G>T (p.Gly117Val) rs17147793
NM_007137.3(ZNF81):c.470A>G (p.Asn157Ser) rs41312157
NM_007137.3(ZNF81):c.638C>A (p.Ala213Glu) rs537825
NM_007254.4(PNKP):c.*15C>T rs1050332
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809
NM_007254.4(PNKP):c.1257C>T (p.Val419=) rs369003964
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.564C>T (p.Gly188=) rs574408360
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) rs502434
NM_007325.5(GRIA3):c.15G>A (p.Lys5=) rs61740996
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692
NM_007327.4(GRIN1):c.1005T>C (p.Thr335=) rs145176345
NM_007327.4(GRIN1):c.1044C>T (p.Phe348=) rs143483243
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=) rs116006955
NM_007327.4(GRIN1):c.1809G>C (p.Leu603=) rs141249927
NM_007327.4(GRIN1):c.2223G>C (p.Ser741=) rs767848286
NM_007327.4(GRIN1):c.2241G>C (p.Val747=) rs116354349
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=) rs79570612
NM_007327.4(GRIN1):c.525G>A (p.Ala175=) rs77812749
NM_007327.4(GRIN1):c.705C>T (p.Ala235=) rs201343933
NM_007327.4(GRIN1):c.768G>C (p.Gly256=) rs141473515
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293
NM_007327.4(GRIN1):c.855G>A (p.Val285=) rs1126442
NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu) rs78979358
NM_012280.4(FTSJ1):c.495C>T (p.Leu165=) rs34407506
NM_012280.4(FTSJ1):c.738G>A (p.Ser246=) rs140074225
NM_013995.2(LAMP2):c.461A>G (p.Asn154Ser) rs773525538
NM_014141.6(CNTNAP2):c.1032C>T (p.Gly344=) rs142122012
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=) rs143286960
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.6(CNTNAP2):c.2895C>A (p.Gly965=) rs75688908
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=) rs201200400
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=) rs61732854
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) rs143600441
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508
NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln) rs0
NM_014491.4(FOXP2):c.1371T>C (p.Ile457=) rs61753357
NM_014491.4(FOXP2):c.1843G>A (p.Ala615Thr) rs182138317
NM_014491.4(FOXP2):c.483A>G (p.Gln161=) rs62640396
NM_014491.4(FOXP2):c.510_512ACA[4] (p.Gln191del) rs398124272
NM_014491.4(FOXP2):c.552A>G (p.Gln184=) rs146945410
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=) rs34890427
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=) rs145201706
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563
NM_014795.4(ZEB2):c.2361T>C (p.Asn787=) rs201567433
NM_014795.4(ZEB2):c.2766A>T (p.Pro922=) rs185223937
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe) rs201109457
NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val) rs199951665
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586
NM_014795.4(ZEB2):c.9G>C (p.Gln3His) rs149882004
NM_015100.4(POGZ):c.1788A>G (p.Gln596=) rs144945886
NM_015100.4(POGZ):c.222C>T (p.Ser74=) rs145999381
NM_015100.4(POGZ):c.2634C>G (p.Ser878=) rs138843201
NM_015100.4(POGZ):c.2669C>T (p.Ala890Val) rs141251585
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg) rs145570114
NM_015100.4(POGZ):c.2913G>A (p.Glu971=) rs113903415
NM_015100.4(POGZ):c.3237C>T (p.His1079=) rs149003420
NM_015100.4(POGZ):c.3297G>A (p.Glu1099=) rs116755407
NM_015100.4(POGZ):c.4104T>A (p.Thr1368=) rs1571294
NM_015100.4(POGZ):c.747C>T (p.Thr249=) rs148175159
NM_015100.4(POGZ):c.753C>T (p.Ser251=) rs142434646
NM_015107.3(PHF8):c.2131G>A (p.Glu711Lys) rs41306749
NM_015107.3(PHF8):c.219T>A (p.Asp73Glu) rs148664730
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105
NM_015107.3(PHF8):c.2790_2792CTC[2] (p.Ser933del) rs782660284
NM_016219.5(MAN1B1):c.120_122GCC[6] (p.Pro45dup) rs538804415
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640
NM_016729.3(FOLR1):c.157T>C (p.Leu53=) rs143413500
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655
NM_016729.3(FOLR1):c.321C>T (p.Tyr107=) rs145674759
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601
NM_017519.2(ARID1B):c.1029_1043del (p.Ala346_Ala350del) rs775733700
NM_017519.2(ARID1B):c.1032_1034GGC[5] (p.Ala350dup) rs764418312
NM_017519.2(ARID1B):c.103_105TCC[6] (p.Ser41del) rs770512547
NM_017519.2(ARID1B):c.1043_1045CAG[4] (p.Ala350dup) rs797045267
NM_017519.2(ARID1B):c.1054_1056GGC[5] (p.Gly357del) rs797045268
NM_017519.2(ARID1B):c.1054_1056GGC[7] (p.Gly357dup) rs797045268
NM_017519.2(ARID1B):c.257_277ACCACCACCATGCCCACCACC[1] (p.86_92HHHHAHH[1]) rs767952510
NM_017519.2(ARID1B):c.342_344GCA[8] (p.Gln131dup) rs587779743
NM_017519.2(ARID1B):c.366_368GCA[6] (p.Gln131del) rs587779744
NM_017519.2(ARID1B):c.366_368GCA[9] (p.Gln130_Gln131dup) rs587779744
NM_017519.2(ARID1B):c.679_680delinsCC (p.Val227Pro) rs1554247605
NM_017519.2(ARID1B):c.921_923CGG[9] (p.Gly319dup) rs587779747
NM_017519.2(ARID1B):c.962_964GAG[6] (p.Gly327_Gly328del) rs747790383
NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro) rs11883041
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054
NM_017721.5(CC2D1A):c.1281T>C (p.Gly427=) rs10410239
NM_017721.5(CC2D1A):c.1357-2A>C rs200557641
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486
NM_017721.5(CC2D1A):c.1449C>G (p.Pro483=) rs201221633
NM_017721.5(CC2D1A):c.1521C>T (p.Ala507=) rs35337537
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_017721.5(CC2D1A):c.1974C>T (p.Leu658=) rs147905122
NM_017721.5(CC2D1A):c.2088A>G (p.Lys696=) rs73925404
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777
NM_017721.5(CC2D1A):c.2430C>G (p.Asp810Glu) rs199683318
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259
NM_017721.5(CC2D1A):c.252G>A (p.Pro84=) rs7250180
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628
NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val) rs192358667
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117
NM_017721.5(CC2D1A):c.698C>T (p.Ala233Val) rs181548764
NM_017721.5(CC2D1A):c.905G>A (p.Arg302Gln) rs73922801
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704
NM_017755.6(NSUN2):c.123C>T (p.Ile41=) rs112327056
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449
NM_017755.6(NSUN2):c.2043G>A (p.Arg681=) rs150785220
NM_017755.6(NSUN2):c.2060G>A (p.Arg687Gln) rs756450204
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086
NM_017755.6(NSUN2):c.612C>A (p.Val204=) rs148924682
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr) rs564938323
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) rs191081055
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.4(CHD7):c.7165-5A>G rs376076407
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) rs147534616
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.10127A>T (p.Asn3376Ile) rs111353525
NM_017890.4(VPS13B):c.10230G>A (p.Glu3410=) rs115369860
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_017890.4(VPS13B):c.10310C>T (p.Ala3437Val) rs112045467
NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) rs145279584
NM_017890.4(VPS13B):c.1041A>G (p.Ser347=) rs149176010
NM_017890.4(VPS13B):c.10819A>G (p.Ile3607Val) rs145547375
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) rs61754107
NM_017890.4(VPS13B):c.11013C>T (p.Val3671=) rs758028194
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11256A>G (p.Arg3752=) rs138667007
NM_017890.4(VPS13B):c.11640A>G (p.Ser3880=) rs7844645
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.11694G>C (p.Val3898=) rs113454700
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_017890.4(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_017890.4(VPS13B):c.1440C>T (p.Phe480=) rs141324814
NM_017890.4(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_017890.4(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_017890.4(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) rs141637316
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) rs118158347
NM_017890.4(VPS13B):c.3744A>G (p.Leu1248=) rs16897391
NM_017890.4(VPS13B):c.3837C>T (p.Cys1279=) rs34941871
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) rs368851580
NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) rs139640224
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.7038A>G (p.Val2346=) rs61753724
NM_017890.4(VPS13B):c.7052G>A (p.Arg2351Gln) rs61754113
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.7413T>C (p.Phe2471=) rs150771329
NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala) rs7833870
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys) rs138453594
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) rs36074608
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_018026.4(PACS1):c.102G>A (p.Pro34=) rs75352646
NM_018026.4(PACS1):c.1617C>T (p.His539=) rs113972076
NM_018026.4(PACS1):c.2061T>A (p.Ser687=) rs572697
NM_018026.4(PACS1):c.2777-3T>C rs524268
NM_018328.4(MBD5):c.1111C>G (p.Gln371Glu) rs536900412
NM_018328.4(MBD5):c.1368G>T (p.Ser456=) rs146020786
NM_018328.4(MBD5):c.1638C>T (p.Ala546=) rs116413446
NM_018328.4(MBD5):c.2030G>A (p.Ser677Asn) rs114314967
NM_018328.4(MBD5):c.2254A>G (p.Ile752Val) rs147455836
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_018328.4(MBD5):c.2978A>C (p.Gln993Pro) rs761395486
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) rs143028540
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018328.4(MBD5):c.3243T>A (p.Gly1081=) rs115816749
NM_018328.4(MBD5):c.3702C>T (p.Val1234=) rs144957555
NM_018328.4(MBD5):c.3896G>A (p.Arg1299Gln) rs35934694
NM_018328.4(MBD5):c.422G>A (p.Arg141Gln) rs200245855
NM_018328.4(MBD5):c.60A>G (p.Gln20=) rs1057522537
NM_018328.4(MBD5):c.69G>A (p.Val23=) rs151204004
NM_018328.4(MBD5):c.884C>G (p.Thr295Ser) rs368339420
NM_018328.4(MBD5):c.961A>G (p.Met321Val) rs369869865
NM_020717.3(SHROOM4):c.1627A>T (p.Thr543Ser) rs61748324
NM_020717.3(SHROOM4):c.3734C>T (p.Ser1245Leu) rs12689863
NM_020717.3(SHROOM4):c.4066G>A (p.Val1356Ile) rs137923286
NM_020717.3(SHROOM4):c.439C>T (p.His147Tyr) rs111940781
NM_020732.3(ARID1B):c.1088C>T (p.Ala363Val) rs748273011
NM_020732.3(ARID1B):c.1678A>G (p.Ile560Val) rs17318151
NM_020732.3(ARID1B):c.1977C>T (p.Pro659=) rs146240413
NM_020732.3(ARID1B):c.2895C>T (p.Pro965=) rs144894118
NM_020732.3(ARID1B):c.2896G>A (p.Gly966Ser) rs34786733
NM_020732.3(ARID1B):c.2978A>T (p.Gln993Leu) rs139620600
NM_020732.3(ARID1B):c.2985G>A (p.Pro995=) rs537901478
NM_020732.3(ARID1B):c.3399C>T (p.Thr1133=) rs142391292
NM_020732.3(ARID1B):c.3946G>A (p.Gly1316Arg) rs199674889
NM_020732.3(ARID1B):c.4495A>T (p.Met1499Leu) rs34870395
NM_020732.3(ARID1B):c.4658C>T (p.Ala1553Val) rs762698567
NM_020732.3(ARID1B):c.5015A>G (p.Asn1672Ser) rs140177120
NM_020732.3(ARID1B):c.5802C>T (p.Ile1934=) rs142499766
NM_020732.3(ARID1B):c.6594G>A (p.Ala2198=) rs754242891
NM_020732.3(ARID1B):c.6654C>T (p.His2218=) rs183572405
NM_020732.3(ARID1B):c.69G>A (p.Ala23=) rs533182720
NM_020732.3(ARID1B):c.942C>A (p.Gly314=) rs184815562
NM_020988.3(GNAO1):c.27G>A (p.Glu9=) rs139334934
NM_020988.3(GNAO1):c.414A>G (p.Gln138=) rs141057479
NM_021072.4(HCN1):c.124C>T (p.Pro42Ser) rs56164833
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462
NM_021072.4(HCN1):c.159C>G (p.His53Gln) rs10066808
NM_021072.4(HCN1):c.1619-3T>C rs376434225
NM_021072.4(HCN1):c.1783+4C>T rs188586020
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) rs148932124
NM_021072.4(HCN1):c.203_205GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203_205GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199
NM_021072.4(HCN1):c.336C>A (p.Arg112=) rs794726951
NM_021120.4(DLG3):c.2076C>T (p.Ile692=) rs535820581
NM_021120.4(DLG3):c.409-4G>T rs188475429
NM_021120.4(DLG3):c.429C>T (p.Phe143=) rs144225009
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673
NM_022089.4(ATP13A2):c.2198C>T (p.Thr733Met) rs201883464
NM_022089.4(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069
NM_022455.4(NSD1):c.1064-5C>A rs961502921
NM_022455.4(NSD1):c.1149C>T (p.Ile383=) rs34921128
NM_022455.4(NSD1):c.1364T>C (p.Met455Thr) rs143585233
NM_022455.4(NSD1):c.1690G>T (p.Ala564Ser) rs116520623
NM_022455.4(NSD1):c.1980C>T (p.Asn660=) rs140072393
NM_022455.4(NSD1):c.2169C>T (p.Thr723=) rs11948062
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) rs115722008
NM_022455.4(NSD1):c.2465C>G (p.Ser822Cys) rs377684553
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.3088T>C (p.Leu1030=) rs61756006
NM_022455.4(NSD1):c.3150C>T (p.Thr1050=) rs144257298
NM_022455.4(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006
NM_022455.4(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180
NM_022455.4(NSD1):c.3393C>T (p.Asn1131=) rs150296373
NM_022455.4(NSD1):c.339C>T (p.Cys113=) rs77093936
NM_022455.4(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669
NM_022455.4(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.4(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.4(NSD1):c.5520A>G (p.Glu1840=) rs140815139
NM_022455.4(NSD1):c.6829T>C (p.Leu2277=) rs28580074
NM_022455.4(NSD1):c.760C>T (p.Leu254Phe) rs149334244
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) rs143159630
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060
NM_024757.5(EHMT1):c.211A>G (p.Lys71Glu) rs794727519
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) rs367688971
NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val) rs560251933
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310
NM_024757.5(EHMT1):c.369C>T (p.Asn123=) rs770086341
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) rs35570782
NM_024757.5(EHMT1):c.824-5_824-3del rs34385417
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg) rs201393598
NM_030665.4(RAI1):c.1279C>T (p.Leu427=) rs34898721
NM_030665.4(RAI1):c.1524G>A (p.Thr508=) rs141826168
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg) rs147091667
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr) rs370671656
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763
NM_030665.4(RAI1):c.2728T>G (p.Ser910Ala) rs745515458
NM_030665.4(RAI1):c.2907C>T (p.Asp969=) rs141757356
NM_030665.4(RAI1):c.3030C>A (p.Ala1010=) rs542714936
NM_030665.4(RAI1):c.3158C>T (p.Pro1053Leu) rs748386061
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=) rs139448147
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) rs200719553
NM_030665.4(RAI1):c.3778_3780GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg) rs140063274
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu) rs202158738
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643
NM_030665.4(RAI1):c.516C>A (p.His172Gln) rs147481626
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155
NM_030665.4(RAI1):c.776C>T (p.Pro259Leu) rs758661378
NM_030665.4(RAI1):c.834_836GCA[10] (p.Gln289_Gln291del) rs371983878
NM_030665.4(RAI1):c.834_836GCA[14] (p.Gln291dup) rs371983878
NM_030665.4(RAI1):c.834_836GCA[6] (p.Gln285_Gln291del) rs371983878
NM_030665.4(RAI1):c.834_836GCA[7] (p.Gln286_Gln291del) rs371983878
NM_030665.4(RAI1):c.834_836GCA[9] (p.Gln288_Gln291del) rs371983878
NM_031407.7(HUWE1):c.10278C>T (p.Leu3426=) rs146554767
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) rs61730217
NM_031407.7(HUWE1):c.11625G>A (p.Ala3875=) rs782743763
NM_031407.7(HUWE1):c.1188C>T (p.Tyr396=) rs782115290
NM_031407.7(HUWE1):c.11910A>G (p.Leu3970=) rs150043212
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) rs140734968
NM_031407.7(HUWE1):c.12903= (p.Thr4301=) rs477171
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265
NM_031407.7(HUWE1):c.3966G>A (p.Leu1322=) rs140959967
NM_031407.7(HUWE1):c.411C>G (p.Leu137=) rs138967897
NM_031407.7(HUWE1):c.4503C>T (p.Pro1501=) rs144449744
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977
NM_031407.7(HUWE1):c.5716+5G>A rs139135300
NM_031407.7(HUWE1):c.6031-4T>A rs139283158
NM_031407.7(HUWE1):c.654T>C (p.Ser218=) rs148129382
NM_031407.7(HUWE1):c.99A>G (p.Gln33=) rs61743595
NM_031466.7(TRAPPC9):c.160A>G (p.Ser54Gly) rs148523016
NM_031466.7(TRAPPC9):c.187A>G (p.Arg63Gly) rs144686266
NM_031466.7(TRAPPC9):c.222G>C (p.Ala74=) rs767996463
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_031844.3(HNRNPU):c.1215G>A (p.Val405=) rs147232928
NM_031844.3(HNRNPU):c.1251A>G (p.Val417=) rs142767399
NM_031844.3(HNRNPU):c.141C>T (p.Ala47=) rs111518952
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=) rs11537737
NM_031844.3(HNRNPU):c.507G>A (p.Gln169=) rs139561508
NM_032682.5(FOXP1):c.1890-5T>C rs187666567
NM_032682.6(FOXP1):c.123G>A (p.Thr41=) rs201155996
NM_032682.6(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680
NM_032682.6(FOXP1):c.1709A>G (p.Asn570Ser) rs140161845
NM_032682.6(FOXP1):c.1762G>A (p.Ala588Thr) rs202173892
NM_032682.6(FOXP1):c.1825G>A (p.Ala609Thr) rs147537388
NM_032682.6(FOXP1):c.44C>T (p.Ala15Val) rs532329866
NM_032682.6(FOXP1):c.643C>G (p.Pro215Ala) rs146606219
NM_033517.1(SHANK3):c.1803G>A (p.Thr601=) rs73892912
NM_033517.1(SHANK3):c.2111-5C>T rs181480774
NM_033517.1(SHANK3):c.2265+1G>A rs1396379503
NM_033517.1(SHANK3):c.271C>T (p.Arg91Ter) rs1569097392
NM_033517.1(SHANK3):c.2908G>T (p.Ala970Ser) rs530255181
NM_033517.1(SHANK3):c.3893G>A (p.Arg1298Lys) rs201483867
NM_033517.1(SHANK3):c.4176C>G (p.Leu1392=) rs906873431
NM_033517.1(SHANK3):c.4960C>A (p.Pro1654Thr) rs749130556
NM_080632.2(UPF3B):c.1073G>A (p.Arg358His) rs181034787
NM_080632.2(UPF3B):c.1121G>A (p.Arg374His) rs143538947
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) rs148542094
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly) rs587784018
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.4(NIPBL):c.804A>G (p.Ala268=) rs144238532
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly) rs778734352
NM_139058.3(ARX):c.1269C>T (p.His423=) rs794727656
NM_139058.3(ARX):c.1300_1302GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161
NM_139058.3(ARX):c.306G>A (p.Ala102=) rs587783196
NM_139058.3(ARX):c.306_308GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306_308GGC[9] (p.Ala115del) rs387906492
NM_139058.3(ARX):c.441A>G (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.612C>G (p.Pro204=) rs149260055
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=) rs140852252
NM_153380.3(ZNF41):c.374T>G (p.Ile125Arg) rs17147624
NM_153380.3(ZNF41):c.660T>G (p.Asn220Lys) rs34301930
NM_153620.3(HOXA1):c.192_194CCA[9] (p.His72dup) rs747464910
NM_171998.4(RAB39B):c.126G>T (p.Gly42=) rs781889889
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077
NM_173495.3(PTCHD1):c.1332C>T (p.Val444=) rs138702144
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) rs138676073
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile) rs150912089
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=) rs144982584
NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe) rs762133513
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) rs12014412
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123
NM_176787.5(PIGN):c.2577-13dup rs138671843
NM_176787.5(PIGN):c.2620-17dup rs11437076
NM_176787.5(PIGN):c.2620-5del rs11437076
NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp) rs376877146
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894
NM_181303.2(NLGN3):c.2034C>T (p.Tyr678=) rs143055854
NM_181303.2(NLGN3):c.282G>A (p.Ser94=) rs143817848
NM_181303.2(NLGN3):c.594T>C (p.Gly198=) rs144247281
NM_181303.2(NLGN3):c.603C>G (p.Pro201=) rs35794236
NM_181332.3(NLGN4X):c.1133A>G (p.Lys378Arg) rs144093574
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=) rs61741754
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=) rs3747334
NM_181332.3(NLGN4X):c.2223C>T (p.His741=) rs541646409
NM_181332.3(NLGN4X):c.2280C>T (p.Tyr760=) rs75350246
NM_181332.3(NLGN4X):c.558C>T (p.Asp186=) rs145911431
NM_181332.3(NLGN4X):c.897A>G (p.Ile299Met) rs151073358
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=) rs7049300

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