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: Y axis 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 Variants with at least 2 submissions 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 kind of conflict
1934 931 4 1198 725 3 45 1709

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 association
pathogenic 3 15 2 0 0 0
likely pathogenic 7 0 4 0 0 0
uncertain significance 7 14 0 119 50 1
likely benign 6 4 495 0 614 2
benign 7 3 91 562 1 0

Condition to condition summary #

Total conditions: 194
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 905 0 817 244 0 1 1033
not provided 0 483 0 160 283 0 14 447
Intellectual Disability, Dominant 0 5 0 45 38 0 0 83
Early infantile epileptic encephalopathy 0 51 0 42 11 0 0 53
Cohen syndrome 0 20 0 29 26 0 2 51
CHARGE association 0 16 0 34 12 0 0 42
Intellectual Disability, Recessive 0 24 0 15 25 0 0 40
Charcot-Marie-Tooth disease, type 2 0 1 0 20 15 0 0 35
Spinocerebellar Ataxia, Dominant 0 1 0 20 15 0 0 35
Charcot-Marie-Tooth disease, axonal, type 2O 0 41 0 23 5 0 0 28
Pitt-Hopkins-like syndrome 1 0 27 0 17 11 0 0 25
Hypogonadism with anosmia 0 12 0 17 5 0 0 22
Hereditary sensory and autonomic neuropathy type II 0 2 0 12 9 0 0 21
Pitt-Hopkins-like syndrome 0 14 0 4 17 0 0 21
Spastic Paraplegia, Recessive 0 2 0 12 9 0 0 21
Brugada syndrome 0 19 0 17 3 0 0 20
Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 0 33 0 15 5 0 0 20
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 0 39 0 17 3 0 0 20
Timothy syndrome 0 19 0 17 3 0 0 20
Tuberous sclerosis 2 0 11 0 9 11 0 0 20
Chromosome 9q deletion syndrome 0 22 0 14 5 0 0 19
Pitt-Hopkins-like syndrome 2 0 19 0 13 6 0 0 19
Epileptic encephalopathy, childhood-onset 0 15 0 11 6 0 1 18
Long QT syndrome 0 26 0 14 4 0 0 18
Non-syndromic X-linked intellectual disability 0 15 0 15 3 0 0 18
Smith-Lemli-Opitz syndrome 0 11 1 7 9 0 1 18
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 25 0 14 3 0 0 17
Mowat-Wilson syndrome 0 11 0 13 4 0 0 17
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 28 0 12 2 0 0 14
Cornelia de Lange Syndrome 0 15 0 10 2 0 0 12
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 0 19 0 9 1 0 1 11
Early infantile epileptic encephalopathy 12 0 20 0 9 2 0 0 11
Epilepsy, focal, with speech disorder and with or without mental retardation 0 14 0 9 2 0 0 11
Mental retardation, autosomal dominant 1 0 12 0 4 7 0 0 11
Mental retardation, autosomal dominant 5 0 13 0 9 2 0 0 11
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 0 16 0 10 1 0 0 11
ATR-X syndrome 0 9 0 8 1 0 1 9
Adrenoleukodystrophy 0 8 0 8 2 0 0 9
Rett syndrome, congenital variant 0 10 0 3 7 0 0 9
Severe neonatal-onset encephalopathy with microcephaly 0 17 0 6 3 0 0 9
Benign familial neonatal-infantile seizures 0 15 0 7 1 0 0 8
Cornelia de Lange syndrome 3 0 1 0 2 7 0 0 8
Epilepsy 0 10 0 5 3 0 0 8
Familial hemiplegic migraine 0 10 0 5 3 0 0 8
Sotos syndrome 1 0 3 0 0 8 0 0 8
Parkinson disease 9 0 12 0 3 4 0 0 7
Rett syndrome 0 6 1 5 1 0 1 7
Angelman syndrome 0 7 0 2 6 0 0 6
Beckwith-Wiedemann syndrome 0 19 0 5 1 0 0 6
Cornelia de Lange syndrome 1 0 4 0 2 4 0 0 6
Danon disease 0 0 0 6 1 0 0 6
Early infantile epileptic encephalopathy 10 0 5 0 1 5 0 0 6
Early infantile epileptic encephalopathy 9 0 12 0 5 3 0 0 6
Epileptic encephalopathy 0 2 0 2 4 0 0 6
Mental retardation, X-linked 98 0 11 0 3 3 0 0 6
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 9 0 5 1 0 0 6
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 7 0 6 0 0 0 6
Nicolaides-Baraitser syndrome 0 19 0 6 0 0 0 6
Rolandic epilepsy 0 0 0 0 0 0 6 6
Sotos syndrome 0 16 0 5 1 0 0 6
Spastic paraplegia 0 12 0 5 1 0 0 6
Weaver syndrome 0 16 0 5 1 0 0 6
Athabaskan brainstem dysgenesis 0 0 0 2 3 0 0 5
Bosley-Salih-Alorainy syndrome 0 0 0 2 3 0 0 5
Cerebral folate deficiency 0 1 0 2 3 0 1 5
Chromosome 2q32-q33 deletion syndrome 0 5 0 5 0 0 0 5
Early infantile epileptic encephalopathy 2; Angelman syndrome-like 0 8 0 4 1 0 0 5
FG syndrome 0 10 0 3 2 0 0 5
Mental retardation, autosomal dominant 31 0 2 0 2 3 0 0 5
Mental retardation, autosomal recessive 15 0 2 0 1 4 0 0 5
Myoclonic-atonic epilepsy 0 11 0 5 0 0 0 5
Parkinson disease 9; Spastic paraplegia 78, autosomal recessive 0 15 0 5 0 0 0 5
Pitt-Hopkins syndrome 0 6 0 5 0 0 0 5
Rasopathy 0 2 0 4 2 0 0 5
Rubinstein-Taybi syndrome 1 0 13 0 1 4 0 1 5
Tuberous sclerosis 1 0 7 0 4 1 0 0 5
heterogeneous nuclear ribonucleoprotein G, human 0 1 0 5 0 0 0 5
Congenital muscular hypertrophy-cerebral syndrome 0 4 0 3 1 0 0 4
Creatine deficiency, X-linked 0 9 0 4 0 0 0 4
Dystonia 10 0 4 0 3 1 0 0 4
GLUT1 deficiency syndrome 1, autosomal recessive 0 11 0 3 1 0 0 4
Glucose transporter type 1 deficiency syndrome 0 8 0 4 0 0 0 4
Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 0 10 0 3 1 0 0 4
Neuronal Ceroid-Lipofuscinosis, Recessive 0 2 0 3 1 0 0 4
Noonan syndrome 0 0 0 1 3 0 0 4
Ornithine carbamoyltransferase deficiency 0 1 0 4 2 0 0 4
Spastic paraplegia 47, autosomal recessive 0 5 0 1 3 0 0 4
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 0 2 0 3 0 0 0 3
Cerebral creatine deficiency syndrome 0 7 0 3 0 0 0 3
Ceroid lipofuscinosis neuronal 1 0 2 1 2 1 0 0 3
Charcot-Marie-Tooth Neuropathy X 0 0 0 3 0 0 0 3
Connective tissue disorder 0 8 0 3 0 0 0 3
Deficiency of guanidinoacetate methyltransferase 0 2 0 2 1 0 0 3
Dystonia 0 8 0 3 0 0 0 3
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 0 6 0 3 0 0 1 3
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 0 9 0 1 2 0 0 3
Hypertrophic cardiomyopathy 0 0 0 2 1 0 0 3
Inborn genetic diseases 0 29 0 1 0 0 2 3
Intellectual Disability with Language Impairment and Autistic Features 0 3 0 2 1 0 0 3
Joubert syndrome; Oral-facial-digital syndrome 0 10 0 1 2 0 0 3
Mental retardation, autosomal dominant 7 0 6 0 2 1 0 0 3
Metachondromatosis 0 0 0 1 2 0 0 3
Noonan syndrome with multiple lentigines 0 0 0 1 2 0 0 3
SeSAME syndrome 0 9 0 2 1 0 0 3
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 0 0 0 0 3 0 0 3
Aarskog syndrome 0 0 0 1 1 0 0 2
Abnormality of brain morphology 0 0 0 0 0 0 2 2
Autism spectrum disorder 0 1 0 0 0 2 0 2
Autistic disorder of childhood onset 0 0 0 0 2 0 0 2
Christianson syndrome 0 6 0 2 0 0 0 2
Early infantile epileptic encephalopathy 8 0 2 0 1 1 0 0 2
Epileptic encephalopathy, early infantile, 31 0 8 0 2 0 0 0 2
Epileptic encephalopathy, early infantile, 36 0 9 0 1 1 0 0 2
Epileptic encephalopathy, early infantile, 54 0 2 0 1 1 0 0 2
Fanconi Anemia, X-Linked 0 2 0 1 1 0 0 2
Fanconi anemia 0 3 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 4 0 1 1 0 0 2
Mental retardation, X-linked 1 0 10 0 2 0 0 0 2
Mental retardation, autosomal recessive 7 0 1 0 2 0 0 0 2
Microtia, hearing impairment, and cleft palate 0 0 0 2 0 0 0 2
Mitochondrial complex I deficiency 0 0 0 1 1 0 0 2
Neurodegeneration with brain iron accumulation 5 0 2 0 1 1 0 0 2
Oculofaciocardiodental syndrome 0 3 0 2 0 0 0 2
Periventricular nodular heterotopia 1 0 0 0 1 1 0 0 2
Speech-language disorder 1 0 5 0 1 1 0 0 2
VACTERL association with hydrocephalus 0 2 0 1 1 0 0 2
Wilms tumor 1 0 4 0 2 0 0 0 2
Acquired hemoglobin H disease; ATR-X syndrome; Mental retardation-hypotonic facies syndrome X-linked, 1 0 0 0 0 1 0 0 1
Aortic dilatation 0 0 0 0 1 0 0 1
Arginine:glycine amidinotransferase deficiency 0 5 0 0 1 0 0 1
Arts syndrome 0 1 0 1 0 0 0 1
Astrocytoma, anaplastic 0 0 0 0 0 0 1 1
Ataxia _ Neurologic (child onset); Non-progressive congenital cerebellar ataxia 0 0 0 1 0 0 0 1
Atrioventricular septal defect; Pulmonary atresia with ventricular septal defect; Heterotaxia; Single Ventricle Defect 0 0 0 0 0 1 0 1
Atypical teratoid/rhabdoid tumor 0 0 0 0 0 0 1 1
CHARGE association; Kallmann syndrome 5 0 1 0 0 1 0 0 1
Cardiomyopathy 0 1 0 0 1 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
Congenital disorder of glycosylation 0 1 0 0 1 0 0 1
Cornelia de Lange syndrome 4 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
Early infantile epileptic encephalopathy 13 0 0 0 0 1 0 0 1
Early infantile epileptic encephalopathy 4 0 2 0 0 1 0 0 1
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked; Proud Levine Carpenter syndrome; Lissencephaly 2, X-linked; Partington X-linked mental retardation syndrome 0 0 0 0 1 0 0 1
Episodic ataxia type 2 0 0 0 0 0 0 1 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 1 0 0 0 1
History of neurodevelopmental disorder 4573 0 0 0 1 0 0 1
Hypoplastic left heart syndrome 1; Aortic valve atresia; Mitral atresia 0 0 0 0 0 1 0 1
Kallmann syndrome 5 0 0 0 1 0 0 0 1
Leigh syndrome 0 0 0 1 0 0 0 1
Lowe syndrome 0 1 0 1 0 0 0 1
Malignant tumor of prostate 0 0 0 0 1 0 0 1
Mental retardation 46, X-linked 0 0 0 1 0 0 0 1
Mental retardation 58, X-linked 0 0 0 0 1 0 1 1
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance 0 0 0 1 0 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 0 0 0 0 1 0 0 1
Mental retardation with language impairment and with or without autistic features; Cerebellar vermis hypoplasia 0 0 0 0 0 0 1 1
Mental retardation, X-linked 19 0 0 0 1 0 0 1 1
Mental retardation, X-linked, syndromic 13 0 6 0 1 0 0 0 1
Mental retardation, X-linked, syndromic, Hedera type 0 3 0 1 0 0 0 1
Mental retardation, X-linked, syndromic, Raymond type 0 0 0 1 0 0 0 1
Mental retardation, X-linked, syndromic, Turner type 0 1 0 0 0 0 1 1
Mental retardation, autosomal dominant 6 0 3 0 1 0 0 0 1
Mental retardation, autosomal dominant 9 0 0 0 0 1 0 0 1
Mental retardation, autosomal recessive 3 0 2 0 0 1 0 0 1
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 0 0 0 1 0 0 0 1
Mental retardation, with or without seizures, ARX-related, X-linked 0 0 0 0 1 0 0 1
Mental retardation-hypotonic facies syndrome, X-linked 0 0 0 1 0 0 0 1
Monoamine oxidase A deficiency 0 1 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-II 0 3 0 1 0 0 1 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 3 0 1 0 0 0 1
Nance-Horan syndrome 0 8 0 1 0 0 0 1
Neuronal ceroid lipofuscinosis 0 1 0 0 1 0 0 1
Opitz-Frias syndrome 0 0 0 0 1 0 0 1
Oral-facial-digital syndrome 0 0 1 0 0 0 0 1
Pyridoxine-dependent epilepsy 0 0 0 0 1 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 0 0 0 0 0 1 1
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked 0 0 0 1 0 0 0 1
Seizures, benign familial infantile, 2 0 0 0 1 0 0 0 1
Seizures; Generalized tonic-clonic seizures; Absence seizures 0 0 0 0 1 0 0 1
Severe myoclonic epilepsy in infancy 0 11 0 1 0 0 0 1
Simpson-Golabi-Behmel syndrome 0 0 0 1 0 0 0 1
Smith-Magenis Syndrome-like 0 0 0 0 0 0 1 1
Smith-Magenis syndrome 0 8 0 0 1 0 0 1
Snyder Robinson syndrome 0 0 0 1 0 0 0 1
Spastic paraplegia 2 0 0 0 1 0 0 0 1
Spastic paraplegia 30, autosomal recessive 0 0 0 0 1 0 0 1
Syndromic X-linked mental retardation 16 0 0 0 0 0 0 1 1
Syndromic X-linked mental retardation, Cabezas type 0 0 0 1 0 0 0 1
Tuberous sclerosis syndrome 0 6 0 0 1 0 0 1
X-Linked mental retardation 90 0 0 0 1 0 0 0 1
short QT syndrome 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 1709
Download table as spreadsheet
HGVS dbSNP
NM_000033.3(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.3(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.3(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.3(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.3(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.3(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.3(ABCD1):c.50G>A (p.Arg17His)
NM_000033.3(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.3(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.6(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.6(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.6(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.6(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730
NM_000052.6(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.6(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.6(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.6(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000156.5(GAMT):c.189G>C (p.Arg63=) rs568392459
NM_000156.5(GAMT):c.279C>T (p.Asp93=) rs144630886
NM_000156.5(GAMT):c.348G>A (p.Leu116=) rs117884619
NM_000156.5(GAMT):c.507_521dup (p.Ser173_Trp174insCysAsnLeuThrSer) rs779931959
NM_000156.5(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.5(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000156.5(GAMT):c.655G>A (p.Asp219Asn) rs753228876
NM_000156.5(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000166.5(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000202.5(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.7(IDS):c.754G>A (p.Asp252Asn) rs146458524
NM_000202.7(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_000276.3(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000276.3(OCRL):c.439+3A>G rs61752971
NM_000284.3(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000284.3(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.3(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000310.3(PPT1):c.*3C>A rs150454815
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
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_000368.4(TSC1):c.1218C>T (p.Tyr406=) rs373465241
NM_000368.4(TSC1):c.1219G>A (p.Val407Met) rs769331772
NM_000368.4(TSC1):c.1585G>A (p.Ala529Thr) rs751125011
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2478G>C (p.Leu826=) rs149719514
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.782A>G (p.Lys261Arg) rs371225009
NM_000381.3(MID1):c.1230C>T (p.Ser410=) rs16986145
NM_000381.3(MID1):c.1698A>G (p.Glu566=) rs34554583
NM_000381.3(MID1):c.2000C>T (p.Pro667Leu) rs147106995
NM_000381.3(MID1):c.588C>G (p.Ala196=) rs41303167
NM_000425.4(L1CAM):c.2211G>A (p.Pro737=) rs146782397
NM_000425.4(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_000425.4(L1CAM):c.3081G>A (p.Ala1027=) rs139393266
NM_000425.4(L1CAM):c.338G>A (p.Arg113His) rs781908326
NM_000425.4(L1CAM):c.3519C>T (p.Phe1173=) rs142277193
NM_000425.4(L1CAM):c.3672G>A (p.Ser1224=) rs146526273
NM_000425.4(L1CAM):c.36C>A (p.Leu12=) rs140678848
NM_000425.4(L1CAM):c.396C>T (p.Ala132=) rs144708625
NM_000489.3(ATRX):c.2785C>G (p.Glu929=) rs3088074
NM_000489.3(ATRX):c.4035G>A (p.Leu1345=) rs111725949
NM_000489.3(ATRX):c.4377_4379delGGA (p.Glu1464del) rs398123423
NM_000489.3(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000489.4(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.4(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.4(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.4(ATRX):c.4635C>A (p.Thr1545=) rs148975763
NM_000489.4(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.4(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.4(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.5(ATRX):c.12G>A (p.Glu4=) rs782765957
NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) rs143413618
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
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.4810-3T>C
NM_000489.5(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507
NM_000489.5(ATRX):c.7083C>T (p.Asn2361=) rs3027525
NM_000531.5(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.5(OTC):c.298+5G>C rs72554348
NM_000531.5(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.5(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.5(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000533.4(PLP1):c.168A>G (p.Gln56=) rs2233697
NM_000533.4(PLP1):c.609T>C (p.Asp203=) rs1126707
NM_000548.3(TSC2):c.3918C>T (p.Gly1306=) rs368712041
NM_000548.3(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.4(TSC2):c.106A>G (p.Thr36Ala) rs757113497
NM_000548.4(TSC2):c.1258-5G>T rs925954967
NM_000548.4(TSC2):c.1303C>T (p.His435Tyr) rs760896048
NM_000548.4(TSC2):c.1332C>T (p.Asn444=) rs535984356
NM_000548.4(TSC2):c.1947-3C>T rs201106259
NM_000548.4(TSC2):c.2273C>G (p.Ser758Cys) rs45517223
NM_000548.4(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.4(TSC2):c.2761C>G (p.Leu921Val) rs201835391
NM_000548.4(TSC2):c.2926C>T (p.Arg976Trp) rs769527912
NM_000548.4(TSC2):c.3117G>A (p.Thr1039=) rs747104674
NM_000548.4(TSC2):c.3396G>A (p.Ser1132=) rs373004429
NM_000548.4(TSC2):c.3492G>A (p.Ala1164=) rs769562717
NM_000548.4(TSC2):c.3990G>A (p.Thr1330=) rs369943684
NM_000548.4(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.4(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.4(TSC2):c.4356G>A (p.Ser1452=) rs779122170
NM_000548.4(TSC2):c.4397C>T (p.Ser1466Leu) rs45517341
NM_000548.4(TSC2):c.4510C>T (p.Leu1504Phe) rs747613240
NM_000548.4(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721
NM_000548.4(TSC2):c.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.4(TSC2):c.4809C>T (p.Asp1603=) rs147578602
NM_000548.4(TSC2):c.4852G>A (p.Val1618Ile) rs377129517
NM_000686.4(AGTR2):c.62G>T (p.Gly21Val) rs121917810
NM_000719.6(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
NM_000719.6(CACNA1C):c.1176G>T (p.Gly392=) rs1051360
NM_000719.6(CACNA1C):c.1359C>T (p.Asp453=) rs200330469
NM_000719.6(CACNA1C):c.171C>T (p.Asp57=) rs34419050
NM_000719.6(CACNA1C):c.1734G>A (p.Leu578=) rs150692845
NM_000719.6(CACNA1C):c.1794C>T (p.Gly598=) rs116491041
NM_000719.6(CACNA1C):c.2067C>T (p.Phe689=) rs112170830
NM_000719.6(CACNA1C):c.213G>A (p.Ala71=) rs113869350
NM_000719.6(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.6(CACNA1C):c.2766G>A (p.Pro922=) rs184684058
NM_000719.6(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824
NM_000719.6(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.6(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114
NM_000719.6(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.6(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.6(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838
NM_000719.6(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466
NM_000719.6(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789
NM_000719.6(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214
NM_000719.6(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455
NM_000719.6(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.6(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065
NM_000719.6(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597
NM_000719.6(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509
NM_000719.6(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756
NM_000719.6(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.6(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316
NM_000719.6(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896
NM_000719.6(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_000719.6(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000719.6(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.6(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000719.6(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000719.6(CACNA1C):c.966C>T (p.His322=) rs112539787
NM_000719.6(CACNA1C):c.984C>T (p.Asn328=) rs374050127
NM_000828.4(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389
NM_000828.4(GRIA3):c.1200T>C (p.Asn400=) rs502434
NM_000828.4(GRIA3):c.15G>A (p.Lys5=) rs61740996
NM_000828.4(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_000828.4(GRIA3):c.397G>A (p.Ala133Thr) rs151086692
NM_000833.4(GRIN2A):c.1251C>T (p.Val417=) rs139329447
NM_000833.4(GRIN2A):c.1275G>A (p.Leu425=) rs2229193
NM_000833.4(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_000833.4(GRIN2A):c.1410T>G (p.Thr470=) rs372058698
NM_000833.4(GRIN2A):c.2085G>C (p.Arg695=) rs9806806
NM_000833.4(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382
NM_000833.4(GRIN2A):c.2627T>C (p.Ile876Thr) rs199784503
NM_000833.4(GRIN2A):c.2694C>T (p.Leu898=) rs569998469
NM_000833.4(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_000833.4(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_000833.4(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_000833.4(GRIN2A):c.3622C>A (p.Arg1208=) rs78544202
NM_000833.4(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_000833.4(GRIN2A):c.3898A>G (p.Arg1300Gly) rs372353067
NM_000833.4(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_000833.4(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_000833.4(GRIN2A):c.447G>A (p.Ala149=) rs144464666
NM_000833.4(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_000833.4(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464
NM_000833.4(GRIN2A):c.666C>T (p.Ile222=) rs143594020
NM_000833.4(GRIN2A):c.669C>T (p.His223=) rs138117658
NM_000833.4(GRIN2A):c.741C>T (p.Gly247=) rs141912603
NM_000833.4(GRIN2A):c.819A>G (p.Pro273=) rs148085725
NM_000833.4(GRIN2A):c.900C>T (p.Thr300=) rs143669998
NM_000833.4(GRIN2A):c.903C>T (p.Thr301=) rs78241448
NM_000833.4(GRIN2A):c.939C>T (p.Ile313=) rs146867324
NM_000834.3(GRIN2B):c.2247G>A (p.Val749=) rs757990373
NM_000834.3(GRIN2B):c.2514C>T (p.Cys838=) rs3026160
NM_000834.3(GRIN2B):c.2664C>T (p.Thr888=) rs1806201
NM_000834.3(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596
NM_000834.3(GRIN2B):c.3117C>T (p.Tyr1039=) rs147762014
NM_000834.3(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137
NM_000834.3(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225
NM_000834.3(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012
NM_000834.4(GRIN2B):c.1338A>G (p.Thr446=) rs141031272
NM_000834.4(GRIN2B):c.1569C>T (p.Val523=) rs148573953
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.2481G>A (p.Ala827=) rs189384622
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.3174C>T (p.Ser1058=) rs772364390
NM_000834.4(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931
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.3837T>G (p.Thr1279=) rs1806200
NM_000834.4(GRIN2B):c.4197T>C (p.His1399=) rs1805247
NM_000834.4(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246
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_001008537.2(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001008537.2(NEXMIF):c.2139G>A (p.Glu713=) rs139194076
NM_001008537.2(NEXMIF):c.2373A>C (p.Thr791=) rs61742545
NM_001008537.2(NEXMIF):c.2598C>A (p.Ser866=) rs41298498
NM_001008537.2(NEXMIF):c.2951A>G (p.Asn984Ser) rs375623451
NM_001008537.2(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242
NM_001008537.2(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613
NM_001008537.2(NEXMIF):c.3753A>G (p.Ile1251Met) rs143365662
NM_001008537.2(NEXMIF):c.3812T>C (p.Met1271Thr) rs138236888
NM_001008537.2(NEXMIF):c.4205A>G (p.Asn1402Ser) rs140532942
NM_001008537.2(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015
NM_001018113.2(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.2(FANCB):c.1996G>A (p.Gly666Ser) rs145110602
NM_001018113.2(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001032221.3(STXBP1):c.38-3T>C rs138763389
NM_001039891.2(ZNF674):c.1028C>T (p.Thr343Met) rs61730637
NM_001039891.2(ZNF674):c.707A>G (p.Lys236Arg) rs201621696
NM_001040616.2(LINS1):c.1124C>T (p.Thr375Ile) rs143097819
NM_001040616.2(LINS1):c.1479T>C (p.Cys493=) rs144513217
NM_001040616.2(LINS1):c.2119G>A (p.Gly707Arg) rs74039425
NM_001040616.2(LINS1):c.718C>T (p.Arg240Trp) rs145145735
NM_001042498.2(SLC35A2):c.12T>G (p.Val4=) rs782793880
NM_001042498.2(SLC35A2):c.561C>T (p.Ala187=) rs370394797
NM_001042498.2(SLC35A2):c.639C>T (p.Ser213=) rs782301792
NM_001042498.2(SLC35A2):c.990C>T (p.Leu330=) rs146079657
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001042537.1(SLC9A6):c.1755C>T (p.Ser585=) rs2307131
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001083962.1(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001083962.1(TCF4):c.1419G>C (p.Pro473=) rs143944746
NM_001083962.1(TCF4):c.1486+4G>C rs201274415
NM_001083962.1(TCF4):c.1704G>A (p.Glu568=) rs144068462
NM_001083962.1(TCF4):c.1905G>A (p.Ala635=) rs151150677
NM_001083962.1(TCF4):c.1923G>A (p.Glu641=) rs76956936
NM_001083962.1(TCF4):c.269A>G (p.Asn90Ser) rs143244149
NM_001083962.1(TCF4):c.341G>A (p.Arg114Lys) rs139876825
NM_001083962.1(TCF4):c.413C>G (p.Thr138Ser) rs796053416
NM_001083962.1(TCF4):c.504A>G (p.Val168=) rs370160994
NM_001083962.1(TCF4):c.73-3T>C rs148658897
NM_001083962.1(TCF4):c.936C>T (p.Ser312=) rs368270265
NM_001083962.1(TCF4):c.944C>T (p.Ala315Val) rs147445499
NM_001099922.2(ALG13):c.104A>G (p.Asn35Ser) rs149808406
NM_001099922.2(ALG13):c.108A>G (p.Arg36=) rs769838471
NM_001099922.2(ALG13):c.13T>C (p.Phe5Leu) rs199754211
NM_001099922.2(ALG13):c.1591T>C (p.Leu531=) rs112837367
NM_001099922.2(ALG13):c.1831C>G (p.Leu611Val) rs199505558
NM_001099922.2(ALG13):c.2573A>G (p.Asn858Ser) rs756238772
NM_001099922.2(ALG13):c.3093A>G (p.Gln1031=) rs372260338
NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001105243.1(PCDH19):c.2655C>T (p.Asn885=) rs193148631
NM_001105243.1(PCDH19):c.2797C>T (p.Arg933Cys) rs3764758
NM_001105243.1(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001105243.1(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001105243.1(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001110556.1(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.1(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.1(FLNA):c.2023-4C>G rs368719012
NM_001110556.1(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.1(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.1(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.1(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.1(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.1(FLNA):c.5850T>C (p.Ala1950=) rs2070825
NM_001110556.1(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.1(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001110792.1(MECP2):c.885C>G (p.Ala295=) rs61750253
NM_001111125.2(IQSEC2):c.1449G>A (p.Pro483=) rs200629644
NM_001111125.2(IQSEC2):c.1625G>A (p.Arg542Gln) rs782420335
NM_001111125.2(IQSEC2):c.1641G>A (p.Ala547=) rs61745228
NM_001111125.2(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125
NM_001111125.2(IQSEC2):c.2571C>A (p.Ile857=) rs146979083
NM_001111125.2(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001111125.2(IQSEC2):c.343G>T (p.Gly115Cys) rs781984542
NM_001111125.2(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118
NM_001111125.2(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964
NM_001111125.2(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864
NM_001127221.1(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1398G>A (p.Ser466=) rs374307014
NM_001127221.1(CACNA1A):c.1575T>A (p.Ile525=) rs16010
NM_001127221.1(CACNA1A):c.1617C>T (p.Tyr539=) rs182505786
NM_001127221.1(CACNA1A):c.1626G>A (p.Gly542=) rs375628894
NM_001127221.1(CACNA1A):c.1629G>A (p.Thr543=) rs16011
NM_001127221.1(CACNA1A):c.1779C>G (p.Val593=) rs16012
NM_001127221.1(CACNA1A):c.2094G>A (p.Thr698=) rs16016
NM_001127221.1(CACNA1A):c.2195A>C (p.Glu732Ala) rs16019
NM_001127221.1(CACNA1A):c.2681G>A (p.Arg894Gln) rs374664760
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.2742C>T (p.Pro914=) rs16021
NM_001127221.1(CACNA1A):c.2754G>C (p.Glu918Asp) rs16022
NM_001127221.1(CACNA1A):c.2826G>A (p.Glu942=) rs374511141
NM_001127221.1(CACNA1A):c.2958G>C (p.Pro986=) rs749357610
NM_001127221.1(CACNA1A):c.2978A>T (p.Glu993Val) rs16023
NM_001127221.1(CACNA1A):c.2983_2988dupGAGGGC (p.Gly996_Pro997insGluGly) rs764399373
NM_001127221.1(CACNA1A):c.3031C>G (p.Pro1011Ala) rs28413664
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.3060G>A (p.Arg1020=) rs16025
NM_001127221.1(CACNA1A):c.3169C>T (p.Arg1057Cys) rs187393245
NM_001127221.1(CACNA1A):c.3230C>T (p.Ala1077Val) rs199512932
NM_001127221.1(CACNA1A):c.3240C>T (p.Ala1080=) rs16026
NM_001127221.1(CACNA1A):c.3307G>A (p.Asp1103Asn) rs372823282
NM_001127221.1(CACNA1A):c.3313G>A (p.Gly1105Ser) rs16027
NM_001127221.1(CACNA1A):c.3412C>G (p.Pro1138Ala) rs199793367
NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) rs16029
NM_001127221.1(CACNA1A):c.3864T>C (p.Phe1288=) rs16030
NM_001127221.1(CACNA1A):c.4224C>T (p.Asp1408=) rs201200430
NM_001127221.1(CACNA1A):c.4314G>A (p.Lys1438=) rs572036869
NM_001127221.1(CACNA1A):c.462C>T (p.Ala154=) rs1800039
NM_001127221.1(CACNA1A):c.4635C>T (p.Thr1545=) rs150378053
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5653G>A (p.Val1885Ile) rs201836062
NM_001127221.1(CACNA1A):c.5655C>T (p.Val1885=) rs17846921
NM_001127221.1(CACNA1A):c.5688C>T (p.Thr1896=) rs757291476
NM_001127221.1(CACNA1A):c.5742C>T (p.Ala1914=) rs16044
NM_001127221.1(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127221.1(CACNA1A):c.5900G>A (p.Arg1967Gln) rs199886234
NM_001127221.1(CACNA1A):c.6064G>A (p.Glu2022Lys) rs202002033
NM_001127221.1(CACNA1A):c.6268C>A (p.Arg2090=) rs200093958
NM_001127221.1(CACNA1A):c.633T>C (p.Ser211=) rs202216404
NM_001127221.1(CACNA1A):c.6345C>G (p.Thr2115=) rs16049
NM_001127221.1(CACNA1A):c.6381C>T (p.Ser2127=) rs16050
NM_001127221.1(CACNA1A):c.6467G>A (p.Arg2156His) rs572722130
NM_001127221.1(CACNA1A):c.6467G>T (p.Arg2156Leu) rs572722130
NM_001127221.1(CACNA1A):c.6653_6661delACCACCATC (p.His2218_His2220del) rs776181081
NM_001127221.1(CACNA1A):c.6657_6659delCCA (p.His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6657_6659dupCCA (p.His2220_Pro2221insHis) rs759331923
NM_001127221.1(CACNA1A):c.6659_6661delATC (p.His2220del) rs749638821
NM_001127221.1(CACNA1A):c.6660T>C (p.His2220=) rs16051
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220_Pro2221insHis) rs768950814
NM_001127221.1(CACNA1A):c.876A>G (p.Glu292=) rs16006
NM_001127222.1(CACNA1A):c.1914-4G>A rs191026552
NM_001129841.1(CACNA1C):c.2548_2550delGAG (p.Glu850del) rs575583988
NM_001135659.2(NRXN1):c.105C>A (p.Gly35=) rs55640811
NM_001135659.2(NRXN1):c.1278+5A>T rs201802152
NM_001135659.2(NRXN1):c.1405C>T (p.Pro469Ser) rs78540316
NM_001135659.2(NRXN1):c.1485T>C (p.Leu495=) rs201727684
NM_001135659.2(NRXN1):c.1695A>G (p.Arg565=) rs201941844
NM_001135659.2(NRXN1):c.1808T>C (p.Ile603Thr) rs201837579
NM_001135659.2(NRXN1):c.2065A>G (p.Ile689Val) rs200074974
NM_001135659.2(NRXN1):c.2242C>A (p.Leu748Ile) rs56086732
NM_001135659.2(NRXN1):c.2313C>T (p.Leu771=) rs201466898
NM_001135659.2(NRXN1):c.2394C>A (p.Thr798=) rs78030925
NM_001135659.2(NRXN1):c.2505C>G (p.Pro835=) rs147984237
NM_001135659.2(NRXN1):c.2541C>T (p.Asn847=) rs115211871
NM_001135659.2(NRXN1):c.2579G>A (p.Ser860Asn) rs80293130
NM_001135659.2(NRXN1):c.2725C>A (p.Leu909Met) rs201818223
NM_001135659.2(NRXN1):c.2850G>A (p.Lys950=) rs192909520
NM_001135659.2(NRXN1):c.2892C>T (p.Tyr964=) rs200182626
NM_001135659.2(NRXN1):c.3165C>T (p.Ala1055=) rs56402642
NM_001135659.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029
NM_001135659.2(NRXN1):c.3249A>G (p.Val1083=) rs200698497
NM_001135659.2(NRXN1):c.3285A>G (p.Ser1095=) rs1553656447
NM_001135659.2(NRXN1):c.3321C>T (p.Ser1107=) rs75275592
NM_001135659.2(NRXN1):c.3339C>T (p.Asn1113=) rs563089155
NM_001135659.2(NRXN1):c.3369C>T (p.Pro1123=) rs116236999
NM_001135659.2(NRXN1):c.3528G>A (p.Thr1176=) rs80094872
NM_001135659.2(NRXN1):c.4053A>G (p.Ala1351=) rs79970751
NM_001135659.2(NRXN1):c.4188G>A (p.Thr1396=) rs74714098
NM_001135659.2(NRXN1):c.4287C>G (p.Pro1429=) rs143446587
NM_001135659.2(NRXN1):c.4368G>A (p.Pro1456=) rs151195816
NM_001135659.2(NRXN1):c.4374A>G (p.Pro1458=) rs55923848
NM_001135659.2(NRXN1):c.4395G>T (p.Arg1465=) rs143495349
NM_001135659.2(NRXN1):c.4512T>C (p.His1504=) rs112536447
NM_001135659.2(NRXN1):c.4593G>A (p.Ala1531=) rs113380721
NM_001135659.2(NRXN1):c.501C>G (p.Leu167=) rs200248561
NM_001135659.2(NRXN1):c.511C>T (p.Leu171=) rs1045874
NM_001135659.2(NRXN1):c.818A>G (p.Asp273Gly) rs144049982
NM_001135659.2(NRXN1):c.932-5T>G rs199712573
NM_001135659.2(NRXN1):c.999C>T (p.Pro333=) rs2303298
NM_001163817.1(DHCR7):c.25A>T (p.Ile9Phe) rs115595829
NM_001165963.1(SCN1A):c.1000C>G (p.Leu334Val) rs201870762
NM_001165963.1(SCN1A):c.1131A>C (p.Arg377=) rs114137271
NM_001165963.1(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.1(SCN1A):c.1378-3T>C rs150964803
NM_001165963.1(SCN1A):c.1410C>T (p.Ser470=) rs142571794
NM_001165963.1(SCN1A):c.2292T>C (p.Val764=) rs6432860
NM_001165963.1(SCN1A):c.2421C>T (p.Phe807=) rs145101180
NM_001165963.1(SCN1A):c.2889T>C (p.Ala963=) rs144679294
NM_001165963.1(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771
NM_001165963.1(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_001165963.1(SCN1A):c.3886T>C (p.Leu1296=) rs375896308
NM_001165963.1(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.1(SCN1A):c.3948G>A (p.Arg1316=) rs149579028
NM_001165963.1(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674
NM_001165963.1(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868
NM_001165963.1(SCN1A):c.4548G>A (p.Ser1516=) rs78041051
NM_001165963.1(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.1(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.1(SCN1A):c.4557G>A (p.Pro1519=) rs368785509
NM_001165963.1(SCN1A):c.4731T>C (p.Asn1577=) rs145296488
NM_001165963.1(SCN1A):c.4793A>T (p.Tyr1598Phe) rs377325221
NM_001165963.1(SCN1A):c.4872G>A (p.Leu1624=) rs142910512
NM_001165963.1(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.1(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001165963.1(SCN1A):c.5306A>G (p.Tyr1769Cys) rs886039460
NM_001165963.1(SCN1A):c.5418G>A (p.Glu1806=) rs140237315
NM_001165963.1(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638
NM_001165963.1(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001165963.2(SCN1A):c.1680T>C (p.Arg560=) rs145662732
NM_001165963.2(SCN1A):c.1797G>A (p.Glu599=) rs145035963
NM_001165963.2(SCN1A):c.3039A>G (p.Gln1013=) rs780391343
NM_001165963.2(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436
NM_001170629.1(CHD8):c.1407T>C (p.Ile469=) rs190978463
NM_001170629.1(CHD8):c.27C>T (p.Phe9=) rs75191413
NM_001170629.1(CHD8):c.341C>T (p.Thr114Met) rs111250264
NM_001170629.1(CHD8):c.456A>G (p.Pro152=) rs61752839
NM_001170629.1(CHD8):c.5346A>G (p.Ala1782=) rs766317271
NM_001170629.1(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090
NM_001170629.1(CHD8):c.7036G>A (p.Glu2346Lys) rs200465274
NM_001184880.1(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.1(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.1(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.1(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.1(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.1(PCDH19):c.888C>T (p.Gly296=) rs368963363
NM_001271.3(CHD2):c.1049A>T (p.Gln350Leu)
NM_001271.3(CHD2):c.1091A>G (p.Asn364Ser) rs143043614
NM_001271.3(CHD2):c.153C>T (p.Ser51=) rs201752698
NM_001271.3(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001271.3(CHD2):c.239C>T (p.Pro80Leu) rs186163798
NM_001271.3(CHD2):c.2730A>T (p.Val910=) rs77895180
NM_001271.3(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.3(CHD2):c.330G>A (p.Arg110=) rs138626801
NM_001271.3(CHD2):c.3321C>T (p.Asp1107=) rs141018126
NM_001271.3(CHD2):c.3400G>A (p.Ala1134Thr) rs147466101
NM_001271.3(CHD2):c.3573G>A (p.Gln1191=) rs79219767
NM_001271.3(CHD2):c.3734delA (p.Lys1245Asnfs) rs752940775
NM_001271.3(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564
NM_001271.3(CHD2):c.4278+5T>C rs202174434
NM_001271.3(CHD2):c.4284A>G (p.Lys1428=) rs35339954
NM_001271.3(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715
NM_001271.3(CHD2):c.4814A>C (p.Lys1605Thr) rs780701076
NM_001271.3(CHD2):c.4990C>G (p.Gln1664Glu) rs1057522158
NM_001271.3(CHD2):c.5049C>T (p.Ala1683=) rs139534358
NM_001271.3(CHD2):c.516A>G (p.Gln172=) rs770631510
NM_001271.3(CHD2):c.5245C>T (p.Pro1749Ser) rs772907727
NM_001271.3(CHD2):c.5268G>C (p.Gln1756His) rs201950393
NM_001271.3(CHD2):c.608A>G (p.Lys203Arg) rs117844037
NM_001271.3(CHD2):c.630G>T (p.Glu210Asp) rs749147803
NM_001271.3(CHD2):c.960A>T (p.Thr320=) rs149632554
NM_001346813.1(ARID1B):c.1049_1051dup (p.Ala350_Gly351insAla) rs797045267
NM_001346813.1(ARID1B):c.360_362dup (p.Gln131_His132insGln) rs587779743
NM_001346813.1(ARID1B):c.381_386dup (p.Gln131_His132insGlnGln) rs587779744
NM_001346813.1(ARID1B):c.942_944dup (p.Gly319_Ser320insGly) rs587779747
NM_001360.2(DHCR7):c.1008C>T (p.His336=) rs75225632
NM_001360.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001360.2(DHCR7):c.1018G>A (p.Val340Ile) rs148081697
NM_001360.2(DHCR7):c.1092G>A (p.Thr364=) rs35946774
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
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.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.226G>A (p.Val76Ile)
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
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.964-1G>C rs138659167
NM_001360.2(DHCR7):c.987C>T (p.Pro329=)
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001376.4(DYNC1H1):c.-5A>G rs17511858
NM_001376.4(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.4(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.4(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322
NM_001376.4(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.4(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
NM_001376.4(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.4(DYNC1H1):c.11691-4G>T rs201810550
NM_001376.4(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.4(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.4(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.4(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.4(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.4(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.4(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.4(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.4(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.4(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.4(DYNC1H1):c.1466C>T (p.Thr489Met) rs773725715
NM_001376.4(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.4(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.4(DYNC1H1):c.239A>G (p.Glu80Gly) rs751092252
NM_001376.4(DYNC1H1):c.2448C>T (p.Ile816=) rs145405293
NM_001376.4(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.4(DYNC1H1):c.256+4C>T rs546058194
NM_001376.4(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.4(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.4(DYNC1H1):c.306C>T (p.Asn102=) rs17540624
NM_001376.4(DYNC1H1):c.3073C>T (p.Arg1025Trp) rs777387819
NM_001376.4(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313
NM_001376.4(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.4(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.4(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.4(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.4(DYNC1H1):c.4143G>A (p.Ala1381=) rs373334821
NM_001376.4(DYNC1H1):c.4395+2C>T rs192594531
NM_001376.4(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.4(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258
NM_001376.4(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.4(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.4(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.4(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001376.4(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.4(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.4(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
NM_001376.4(DYNC1H1):c.706G>A (p.Val236Ile) rs376456164
NM_001376.4(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.4(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830
NM_001376.4(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.4(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720
NM_001376.4(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548
NM_001376.4(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.4(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.4(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.4(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.4(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.4(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328
NM_001376.4(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.4(DYNC1H1):c.8502A>G (p.Gln2834=) rs146220233
NM_001376.4(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.4(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001376.4(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001396.3(DYRK1A):c.2035G>C (p.Ala679Pro) rs55720916
NM_001396.4(DYRK1A):c.1566C>T (p.Ser522=) rs113110833
NM_001396.4(DYRK1A):c.1657A>G (p.Thr553Ala) rs759183785
NM_001396.4(DYRK1A):c.831G>A (p.Ala277=) rs138086853
NM_001456.3(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001456.3(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001456.3(FLNA):c.1450C>T (p.Arg484Trp) rs61730768
NM_001456.3(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001456.3(FLNA):c.1587G>A (p.Lys529=) rs782615607
NM_001456.3(FLNA):c.1812C>T (p.Asp604=) rs370735674
NM_001456.3(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001456.3(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001456.3(FLNA):c.2123G>A (p.Arg708Gln) rs371707134
NM_001456.3(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001456.3(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001456.3(FLNA):c.2609A>G (p.His870Arg)
NM_001456.3(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001456.3(FLNA):c.2845G>A (p.Val949Ile) rs201656372
NM_001456.3(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001456.3(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001456.3(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001456.3(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001456.3(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001456.3(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001456.3(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001456.3(FLNA):c.5227C>T (p.Pro1743Ser) rs56102764
NM_001456.3(FLNA):c.5289+4C>T rs377330443
NM_001456.3(FLNA):c.5318A>G (p.Asn1773Ser) rs373089783
NM_001456.3(FLNA):c.5592G>C (p.Gly1864=) rs782204300
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001456.3(FLNA):c.6326A>G (p.Asn2109Ser) rs375205247
NM_001456.3(FLNA):c.6583G>A (p.Val2195Ile) rs782562592
NM_001456.3(FLNA):c.6618G>C (p.Val2206=) rs1064822
NM_001456.3(FLNA):c.66C>T (p.Asp22=) rs782358007
NM_001456.3(FLNA):c.7043G>A (p.Ser2348Asn) rs782739586
NM_001456.3(FLNA):c.7198G>A (p.Gly2400Ser) rs201168500
NM_001456.3(FLNA):c.7200C>T (p.Gly2400=) rs12008807
NM_001456.3(FLNA):c.7482C>T (p.Gly2494=) rs200195310
NM_001456.3(FLNA):c.759C>T (p.Asp253=) rs782701643
NM_001456.3(FLNA):c.7625C>T (p.Pro2542Leu) rs371724771
NM_001456.3(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001482.2(GATM):c.1041C>T (p.Asp347=) rs139599307
NM_001482.2(GATM):c.1252T>C (p.Leu418=) rs1145086
NM_001482.2(GATM):c.330A>T (p.Gln110His) rs1288775
NM_001482.2(GATM):c.407C>T (p.Thr136Met) rs148564534
NM_001482.2(GATM):c.48G>T (p.Ala16=) rs587780951
NM_001482.2(GATM):c.669T>C (p.Tyr223=) rs151231277
NM_001493.2(GDI1):c.219T>C (p.Asn73=) rs4834
NM_001493.2(GDI1):c.324C>T (p.Ser108=) rs2230286
NM_002024.5(FMR1):c.1572C>T (p.Ser524=) rs143889976
NM_002024.5(FMR1):c.1857C>T (p.Asp619=) rs45540244
NM_002024.5(FMR1):c.414G>A (p.Arg138=) rs25707
NM_002024.5(FMR1):c.433G>T (p.Ala145Ser) rs29281
NM_002241.4(KCNJ10):c.1092A>G (p.Gln364=) rs145588542
NM_002241.4(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756
NM_002241.4(KCNJ10):c.219G>A (p.Ala73=) rs144495959
NM_002241.4(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002241.4(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183
NM_002241.4(KCNJ10):c.812G>A (p.Arg271His) rs3795339
NM_002294.2(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.2(LAMP2):c.74G>A (p.Arg25Gln) rs750118236
NM_002294.2(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.2(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002397.4(MEF2C):c.180C>T (p.Thr60=) rs773278207
NM_002547.2(OPHN1):c.115G>A (p.Val39Ile) rs41303733
NM_002547.2(OPHN1):c.133G>A (p.Ala45Thr) rs148262378
NM_002547.2(OPHN1):c.1839A>G (p.Glu613=) rs146588152
NM_002547.2(OPHN1):c.2029C>A (p.Leu677Met) rs143713841
NM_002547.2(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746
NM_002547.2(OPHN1):c.2079G>A (p.Met693Ile) rs36095561
NM_002547.2(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753
NM_002547.2(OPHN1):c.902C>T (p.Thr301Met) rs138108344
NM_002578.4(PAK3):c.1185C>T (p.Leu395=) rs150174049
NM_002578.4(PAK3):c.531G>A (p.Glu177=) rs56270341
NM_002641.3(PIGA):c.1420G>A (p.Gly474Arg) rs61760986
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.3(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.333-3T>C rs146749153
NM_002834.4(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_003042.3(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333
NM_003042.3(SLC6A1):c.651G>A (p.Thr217=) rs6344
NM_003042.3(SLC6A1):c.6G>A (p.Ala2=) rs6343
NM_003042.3(SLC6A1):c.912C>T (p.Ile304=) rs35450949
NM_003042.3(SLC6A1):c.999C>T (p.Phe333=) rs138166453
NM_003070.4(SMARCA2):c.1122C>G (p.Thr374=) rs138404604
NM_003070.4(SMARCA2):c.174G>A (p.Pro58=) rs10964470
NM_003070.4(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490
NM_003070.4(SMARCA2):c.3672G>A (p.Glu1224=) rs6601
NM_003070.4(SMARCA2):c.4590C>T (p.Ser1530=) rs77070978
NM_003070.4(SMARCA2):c.462G>A (p.Gly154=) rs61736900
NM_003070.4(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212
NM_003070.4(SMARCA2):c.705_707delGCA (p.Gln238del) rs113070757
NM_003070.4(SMARCA2):c.717G>A (p.Pro239=) rs10964525
NM_003070.4(SMARCA2):c.750A>G (p.Gln250=) rs62639302
NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_003159.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_003159.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419
NM_003159.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_003159.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_003159.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_003159.2(CDKL5):c.2783C>T (p.Thr928Met) rs951430019
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_003165.3(STXBP1):c.1320C>T (p.Ile440=) rs370249358
NM_003165.3(STXBP1):c.1351G>A (p.Val451Ile) rs150259704
NM_003165.3(STXBP1):c.1356C>T (p.Thr452=) rs35099393
NM_003165.3(STXBP1):c.1404C>A (p.Ile468=) rs777499631
NM_003165.3(STXBP1):c.1548C>T (p.Ser516=) rs145304925
NM_003165.3(STXBP1):c.1662C>T (p.Tyr554=) rs142595450
NM_003165.3(STXBP1):c.1680C>T (p.Asn560=) rs201809337
NM_003165.3(STXBP1):c.250G>A (p.Val84Ile) rs34830702
NM_003165.3(STXBP1):c.281C>T (p.Pro94Leu) rs200802985
NM_003165.3(STXBP1):c.627C>T (p.Leu209=) rs567071026
NM_003165.3(STXBP1):c.6C>T (p.Ala2=) rs144094037
NM_003165.3(STXBP1):c.846C>T (p.Asp282=) rs58889246
NM_003165.3(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_003611.2(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.2(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.2(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.2(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.2(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.2(OFD1):c.2524G>A (p.Gly842Arg) rs146047094
NM_003611.2(OFD1):c.2619T>A (p.Ile873=) rs797045847
NM_003611.2(OFD1):c.2631G>A (p.Lys877=) rs797045848
NM_003688.3(CASK):c.1077G>A (p.Ala359=) rs145641295
NM_003688.3(CASK):c.1125C>T (p.Phe375=) rs141790702
NM_003688.3(CASK):c.1411G>A (p.Asp471Asn) rs201435578
NM_003688.3(CASK):c.2160T>C (p.Leu720=) rs757563548
NM_003688.3(CASK):c.2427G>A (p.Ala809=) rs141158465
NM_003688.3(CASK):c.891A>G (p.Lys297=) rs544979992
NM_003916.4(AP1S2):c.288T>C (p.Ser96=) rs61741688
NM_004056.5(CA8):c.327A>G (p.Glu109=) rs7464181
NM_004056.5(CA8):c.334C>T (p.Leu112=) rs61743130
NM_004056.5(CA8):c.795C>A (p.Gly265=) rs147080672
NM_004187.3(KDM5C):c.1236C>T (p.Pro412=) rs147546892
NM_004187.3(KDM5C):c.1764G>A (p.Gln588=) rs61733871
NM_004187.3(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.3(KDM5C):c.3381A>G (p.Lys1127=) rs370000816
NM_004187.3(KDM5C):c.536G>A (p.Arg179His) rs201805773
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.2595C>G (p.Pro865=) rs140783695
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.2829C>A (p.Ile943=) rs373045276
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.3369G>A (p.Arg1123=) rs371024769
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.4071C>T (p.Gly1357=) rs375309925
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.4548C>T (p.Tyr1516=) rs202049905
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.4852G>A (p.Val1618Met) rs200511467
NM_004321.7(KIF1A):c.849C>T (p.Ser283=) rs187442951
NM_004321.7(KIF1A):c.883-5C>A rs201408083
NM_004321.7(KIF1A):c.991T>C (p.Leu331=) rs1063353
NM_004380.2(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.2(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.2(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511
NM_004380.2(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.2(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.2(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.2(CREBBP):c.2811G>A (p.Pro937=) rs146168040
NM_004380.2(CREBBP):c.2973C>T (p.Asp991=) rs142528559
NM_004380.2(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_004380.2(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901
NM_004380.2(CREBBP):c.5436C>G (p.Thr1812=) rs61731405
NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.2(CREBBP):c.5829G>A (p.Pro1943=) rs546554430
NM_004380.2(CREBBP):c.6003T>C (p.Asn2001=) rs200998860
NM_004380.2(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188
NM_004380.2(CREBBP):c.6516C>T (p.Asn2172=) rs763852812
NM_004380.2(CREBBP):c.6564G>A (p.Gln2188=) rs73491896
NM_004380.2(CREBBP):c.6609A>G (p.Gln2203=) rs62636220
NM_004380.2(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.2(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.2(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311
NM_004380.2(CREBBP):c.681T>C (p.Pro227=)
NM_004380.2(CREBBP):c.6849C>T (p.Ser2283=) rs148904096
NM_004380.2(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_004408.3(DNM1):c.1437C>T (p.Ile479=) rs141788807
NM_004408.3(DNM1):c.450C>G (p.Pro150=) rs143834670
NM_004458.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158
NM_004458.2(ACSL4):c.806+3A>G rs183171123
NM_004463.2(FGD1):c.1563C>T (p.Pro521=) rs201996522
NM_004463.2(FGD1):c.1617G>A (p.Pro539=) rs151184308
NM_004463.2(FGD1):c.2268C>T (p.Cys756=) rs61734178
NM_004463.2(FGD1):c.2289G>A (p.Lys763=) rs150865566
NM_004463.2(FGD1):c.2568C>T (p.Tyr856=) rs61734179
NM_004463.2(FGD1):c.2816A>C (p.Glu939Ala) rs147012050
NM_004463.2(FGD1):c.395G>A (p.Arg132Gln) rs145644275
NM_004463.2(FGD1):c.676G>A (p.Ala226Thr) rs138723423
NM_004463.2(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004484.3(GPC3):c.1285G>A (p.Val429Met) rs11539789
NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004484.3(GPC3):c.660C>T (p.Ser220=) rs138450923
NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) rs141100113
NM_004541.3(NDUFA1):c.141G>C (p.Leu47=) rs140064980
NM_004541.3(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004586.2(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004586.2(RPS6KA3):c.244-5T>C rs192189478
NM_004586.2(RPS6KA3):c.798C>A (p.Leu266=) rs2230488
NM_004595.4(SMS):c.1026A>C (p.Ser342=) rs61732077
NM_004595.4(SMS):c.569C>T (p.Thr190Ile) rs201275730
NM_004595.4(SMS):c.714C>T (p.Gly238=) rs760174828
NM_004595.4(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_004840.2(ARHGEF6):c.169T>C (p.Cys57Arg) rs147131853
NM_004840.2(ARHGEF6):c.2007C>T (p.Ser669=) rs12008084
NM_004840.2(ARHGEF6):c.362G>A (p.Arg121His) rs35106300
NM_004840.2(ARHGEF6):c.891G>T (p.Gln297His) rs5974620
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1197C>T (p.Pro399=) rs61753012
NM_004992.3(MECP2):c.1205C>T (p.Pro402Leu) rs61753014
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1437G>A (p.Thr479=) rs587781033
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.343C>T (p.Arg115Cys) rs267608388
NM_004992.3(MECP2):c.375C>A (p.Ile125=) rs146107517
NM_004992.3(MECP2):c.393C>G (p.Ala131=) rs61748385
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.527C>A (p.Pro176His) rs61749701
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.687G>T (p.Ser229=) rs782461567
NM_004992.3(MECP2):c.691G>A (p.Gly231Arg) rs587783139
NM_004992.3(MECP2):c.749G>A (p.Arg250His) rs61750227
NM_004992.3(MECP2):c.750C>T (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.753C>T (p.Pro251=) rs63582063
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.834C>T (p.Ala278=) rs61750248
NM_004992.3(MECP2):c.897C>T (p.Thr299=) rs61748423
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3(MECP2):c.942C>T (p.Ile314=) rs61751446
NM_004992.3(MECP2):c.996C>T (p.Ser332=) rs148744894
NM_005120.2(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.2(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.2(MED12):c.3930A>C (p.Pro1310=) rs5030619
NM_005120.2(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.2(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.2(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.2(MED12):c.6223_6228dupCAGCAG (p.Gln2076_Tyr2077insGlnGln) rs757160341
NM_005120.2(MED12):c.6226_6228dupCAG (p.Gln2076_Tyr2077insGln) rs757160341
NM_005120.2(MED12):c.6256_6258delCAG (p.Gln2086del) rs786200971
NM_005120.2(MED12):c.6321_6335delGCAGCAGCAACAGCA (p.Gln2111_Gln2115del) rs727503869
NM_005120.2(MED12):c.6348_6359dupCCAGCAGCAACA (p.Gln2119_Gln2120insHisGlnGlnGln) rs398124200
NM_005120.2(MED12):c.708C>T (p.Thr236=) rs34668206
NM_005249.4(FOXG1):c.*4C>T rs774917687
NM_005249.4(FOXG1):c.1161G>A (p.Ser387=) rs147154860
NM_005249.4(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005249.4(FOXG1):c.209A>C (p.Gln70Pro) rs587783633
NM_005249.4(FOXG1):c.209_229del21 (p.Gln70_Pro76del) rs1466028633
NM_005249.4(FOXG1):c.209_232del24 (p.Gln70_Pro77del) rs794726920
NM_005249.4(FOXG1):c.209_235del27 (p.Gln70_Pro78del) rs587783634
NM_005249.4(FOXG1):c.209_235dup27 (p.Pro78_Pro79insGlnGlnGlnGlnProProProProPro) rs587783634
NM_005249.4(FOXG1):c.218_220dupAGC (p.Gln73_Pro74insGln) rs398124201
NM_005249.4(FOXG1):c.231_236dup (p.Pro80_Ala81insProPro) rs786200975
NM_005249.4(FOXG1):c.234_236dupGCC (p.Pro80_Ala81insPro) rs786200975
NM_005249.4(FOXG1):c.245C>A (p.Pro82Gln) rs796052453
NM_005249.4(FOXG1):c.432G>C (p.Glu144Asp) rs547825816
NM_005249.4(FOXG1):c.447C>T (p.Ala149=) rs112803404
NM_005249.4(FOXG1):c.489C>T (p.Gly163=) rs375378714
NM_005249.4(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005333.4(HCCS):c.215C>T (p.Ala72Val) rs2070163
NM_005333.4(HCCS):c.216G>C (p.Ala72=) rs144152239
NM_005445.3(SMC3):c.1280A>G (p.Lys427Arg) rs142524280
NM_005445.3(SMC3):c.1365T>C (p.Tyr455=) rs75323904
NM_005445.3(SMC3):c.1680T>C (p.Tyr560=) rs75817442
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.2493T>C (p.Tyr831=) rs112525060
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.2934G>A (p.Lys978=) rs147463420
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.207C>T (p.His69=) rs577426612
NM_005522.4(HOXA1):c.213C>T (p.His71=) rs2074398
NM_005522.4(HOXA1):c.436C>A (p.His146Asn) rs45571645
NM_005522.4(HOXA1):c.566A>C (p.Glu189Ala) rs17500494
NM_005522.4(HOXA1):c.741G>A (p.Glu247=) rs143597165
NM_005629.3(SLC6A8):c.1437C>T (p.Ser479=) rs140115896
NM_005629.3(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832
NM_005629.3(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059
NM_005629.3(SLC6A8):c.1713C>T (p.Cys571=) rs782244505
NM_005629.3(SLC6A8):c.1778A>G (p.His593Arg) rs782560726
NM_005629.3(SLC6A8):c.498G>A (p.Thr166=) rs201260657
NM_005629.3(SLC6A8):c.777+4C>T rs201581661
NM_005629.3(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_005710.2(PQBP1):c.180-3C>T rs741932
NM_005765.2(ATP6AP2):c.189C>T (p.Leu63=) rs150392503
NM_005765.2(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014
NM_005765.2(ATP6AP2):c.285G>A (p.Ser95=) rs34217273
NM_005765.2(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522
NM_005859.4(PURA):c.114_122delGGGCGGCGG (p.Gly40_Gly42del)
NM_005859.4(PURA):c.144_146dup (p.Gly49_Ala50insGly) rs754074166
NM_005859.4(PURA):c.321C>T (p.Ala107=) rs149139260
NM_005859.4(PURA):c.40G>C (p.Ala14Pro)
NM_005859.4(PURA):c.450C>G (p.Arg150=) rs201822080
NM_005859.4(PURA):c.621C>T (p.Asp207=) rs142688247
NM_006013.4(RPL10):c.291C>T (p.Ile97=) rs138325578
NM_006013.4(RPL10):c.605G= (p.Ser202=) rs4909
NM_006265.2(RAD21):c.145-4A>G rs752213732
NM_006279.3(ST3GAL3):c.636C>T (p.Gly212=) rs12140044
NM_006279.4(ST3GAL3):c.660C>T (p.Tyr220=) rs201204481
NM_006279.4(ST3GAL3):c.900T>C (p.Pro300=) rs563317319
NM_006306.3(SMC1A):c.*14C>T rs112727682
NM_006306.3(SMC1A):c.1173G>A (p.Gln391=) rs147952638
NM_006306.3(SMC1A):c.1323C>T (p.Tyr441=) rs144850468
NM_006306.3(SMC1A):c.1545+4A>C rs377270943
NM_006306.3(SMC1A):c.2197-5T>C rs2297104
NM_006306.3(SMC1A):c.2824C>T (p.Leu942=) rs139654605
NM_006306.3(SMC1A):c.3450C>T (p.Ala1150=) rs142611198
NM_006359.2(SLC9A6):c.*8A>T rs200171451
NM_006359.2(SLC9A6):c.1143G>A (p.Leu381=) rs151178361
NM_006359.2(SLC9A6):c.698-5A>G rs1057520615
NM_006516.2(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.1170C>T (p.Ile390=) rs2236574
NM_006516.3(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205
NM_006516.3(SLC2A1):c.1372C>A (p.Arg458=) rs13306758
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_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006517.4(SLC16A2):c.1596C>T (p.Ser532=) rs199904356
NM_006517.4(SLC16A2):c.949C>T (p.Arg317Cys) rs144755294
NM_006565.3(CTCF):c.1164C>T (p.Ser388=) rs143837268
NM_006565.3(CTCF):c.1887C>T (p.Ala629=) rs149766428
NM_006565.3(CTCF):c.1927C>T (p.Pro643Ser) rs145727304
NM_006565.3(CTCF):c.2139C>T (p.Asn713=) rs146712579
NM_006594.4(AP4B1):c.1365T>C (p.Tyr455=) rs114201291
NM_006594.4(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401
NM_006594.4(AP4B1):c.1723A>G (p.Ile575Val) rs114734921
NM_006594.4(AP4B1):c.240A>G (p.Pro80=) rs34249695
NM_006594.4(AP4B1):c.402A>C (p.Ser134=) rs34751342
NM_006594.4(AP4B1):c.576C>T (p.Gly192=) rs17464525
NM_006594.4(AP4B1):c.69A>G (p.Gln23=) rs117872964
NM_006594.4(AP4B1):c.767C>T (p.Thr256Ile) rs143286419
NM_006594.4(AP4B1):c.803A>G (p.His268Arg) rs201047107
NM_006594.4(AP4B1):c.898G>T (p.Val300Leu) rs111785152
NM_006765.3(TUSC3):c.193A>G (p.Ile65Val) rs11545035
NM_006765.3(TUSC3):c.768T>C (p.Tyr256=) rs149033081
NM_006765.3(TUSC3):c.912G>A (p.Ser304=) rs17121892
NM_006766.4(KAT6A):c.1342A>G (p.Ser448Gly) rs149459548
NM_006766.4(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648
NM_006772.2(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798
NM_006772.2(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963
NM_006772.2(SYNGAP1):c.1713G>A (p.Ser571=) rs411136
NM_006772.2(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477
NM_006772.2(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703
NM_006772.2(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006772.2(SYNGAP1):c.2016G>A (p.Thr672=) rs57365292
NM_006772.2(SYNGAP1):c.2583G>A (p.Ser861=) rs375587730
NM_006772.2(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477
NM_006772.2(SYNGAP1):c.3273A>G (p.Leu1091=) rs145707539
NM_006772.2(SYNGAP1):c.3297T>C (p.Tyr1099=) rs149016890
NM_006772.2(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529
NM_006772.2(SYNGAP1):c.3834C>T (p.Pro1278=) rs555363112
NM_006772.2(SYNGAP1):c.3913A>G (p.Thr1305Ala) rs749376396
NM_006772.2(SYNGAP1):c.3978A>C (p.Pro1326=) rs745764103
NM_006772.2(SYNGAP1):c.586T>C (p.Leu196=) rs145694123
NM_006772.2(SYNGAP1):c.708G>A (p.Ala236=)
NM_006772.2(SYNGAP1):c.84T>C (p.Ser28=) rs142359891
NM_006920.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.4(SCN1A):c.2591C>T (p.Thr864Met) rs121918623
NM_006920.4(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.4(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.4(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.4(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_006920.5(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_007075.3(WDR45):c.354C>T (p.Ile118=) rs140596058
NM_007075.3(WDR45):c.569A>G (p.Asn190Ser)
NM_007075.3(WDR45):c.947A>C (p.Asn316Thr) rs782562675
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.554C>T (p.Ser185Leu) rs186251256
NM_007137.3(ZNF81):c.638C>A (p.Ala213Glu) rs537825
NM_007137.3(ZNF81):c.8C>T (p.Ala3Val) rs183846665
NM_007254.2(PNKP):c.603dupT rs796052859
NM_007254.3(PNKP):c.*15C>T rs1050332
NM_007254.3(PNKP):c.1032G>A (p.Arg344=) rs185452809
NM_007254.3(PNKP):c.1257C>T (p.Val419=) rs369003964
NM_007254.3(PNKP):c.1322C>G (p.Ala441Gly) rs549000007
NM_007254.3(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.3(PNKP):c.1433T>G (p.Val478Gly) rs3739206
NM_007254.3(PNKP):c.1491C>T (p.Ala497=) rs116192442
NM_007254.3(PNKP):c.1497G>A (p.Leu499=) rs142199280
NM_007254.3(PNKP):c.1522G>A (p.Glu508Lys) rs146478958
NM_007254.3(PNKP):c.1557C>T (p.Ser519=) rs142180374
NM_007254.3(PNKP):c.188C>T (p.Ala63Val) rs3739173
NM_007254.3(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.3(PNKP):c.501G>A (p.Val167=) rs142143566
NM_007254.3(PNKP):c.519C>T (p.Asp173=) rs144284975
NM_007254.3(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.3(PNKP):c.564C>T (p.Gly188=) rs574408360
NM_007254.3(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.3(PNKP):c.586T>A (p.Tyr196Asn) rs3739186
NM_007254.3(PNKP):c.58C>T (p.Pro20Ser) rs3739168
NM_007254.3(PNKP):c.627G>A (p.Glu209=) rs532550120
NM_007254.3(PNKP):c.672C>T (p.Arg224=) rs151180981
NM_007254.3(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.3(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.3(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007327.3(GRIN1):c.1005T>C (p.Thr335=) rs145176345
NM_007327.3(GRIN1):c.1044C>T (p.Phe348=) rs143483243
NM_007327.3(GRIN1):c.1513C>T (p.Leu505=) rs139637382
NM_007327.3(GRIN1):c.1584G>A (p.Glu528=) rs116006955
NM_007327.3(GRIN1):c.1809G>C (p.Leu603=) rs141249927
NM_007327.3(GRIN1):c.2223G>C (p.Ser741=) rs767848286
NM_007327.3(GRIN1):c.2241G>C (p.Val747=) rs116354349
NM_007327.3(GRIN1):c.2244G>C (p.Thr748=) rs79570612
NM_007327.3(GRIN1):c.525G>A (p.Ala175=) rs77812749
NM_007327.3(GRIN1):c.693A>C (p.Val231=) rs201818201
NM_007327.3(GRIN1):c.705C>T (p.Ala235=) rs201343933
NM_007327.3(GRIN1):c.768G>C (p.Gly256=) rs141473515
NM_007327.3(GRIN1):c.789A>G (p.Pro263=) rs6293
NM_007327.3(GRIN1):c.855G>A (p.Val285=) rs1126442
NM_012280.3(FTSJ1):c.307C>G (p.Gln103Glu) rs78979358
NM_012280.3(FTSJ1):c.495C>T (p.Leu165=) rs34407506
NM_014141.5(CNTNAP2):c.1032C>T (p.Gly344=) rs142122012
NM_014141.5(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014141.5(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192
NM_014141.5(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475
NM_014141.5(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.5(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693
NM_014141.5(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867
NM_014141.5(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458
NM_014141.5(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.5(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062
NM_014141.5(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147
NM_014141.5(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.5(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.5(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849
NM_014141.5(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.5(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654
NM_014141.5(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503
NM_014141.5(CNTNAP2):c.2292C>T (p.His764=) rs143286960
NM_014141.5(CNTNAP2):c.2460C>T (p.Ser820=) rs144496909
NM_014141.5(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385
NM_014141.5(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.5(CNTNAP2):c.2895C>A (p.Gly965=) rs75688908
NM_014141.5(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670
NM_014141.5(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883
NM_014141.5(CNTNAP2):c.318C>T (p.Ser106=) rs61732853
NM_014141.5(CNTNAP2):c.3248-4A>G rs3779031
NM_014141.5(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792
NM_014141.5(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449
NM_014141.5(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210
NM_014141.5(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547
NM_014141.5(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.5(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907
NM_014141.5(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.5(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691
NM_014141.5(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702
NM_014141.5(CNTNAP2):c.561T>C (p.Val187=) rs201200400
NM_014141.5(CNTNAP2):c.681C>T (p.His227=) rs142984073
NM_014141.5(CNTNAP2):c.834T>C (p.Ser278=) rs61732854
NM_014141.5(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383
NM_014191.3(SCN8A):c.*3_*5delGAG rs555793953
NM_014191.3(SCN8A):c.1215G>A (p.Leu405=) rs751093826
NM_014191.3(SCN8A):c.141C>T (p.Asp47=) rs149013279
NM_014191.3(SCN8A):c.1470A>G (p.Glu490=) rs187115247
NM_014191.3(SCN8A):c.1509C>A (p.Leu503=) rs376749872
NM_014191.3(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317
NM_014191.3(SCN8A):c.1833G>T (p.Arg611=) rs35242963
NM_014191.3(SCN8A):c.1999-5del rs769940455
NM_014191.3(SCN8A):c.2073C>T (p.Tyr691=) rs146982102
NM_014191.3(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_014191.3(SCN8A):c.2632C>T (p.Leu878=) rs372582842
NM_014191.3(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_014191.3(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_014191.3(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_014191.3(SCN8A):c.4155A>C (p.Thr1385=) rs144424662
NM_014191.3(SCN8A):c.4278G>A (p.Arg1426=) rs143867796
NM_014191.3(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_014191.3(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257
NM_014191.3(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
NM_014191.3(SCN8A):c.4779C>T (p.Val1593=) rs12301486
NM_014191.3(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_014191.3(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_014191.3(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
NM_014191.3(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_014191.3(SCN8A):c.751C>T (p.Leu251=) rs200307006
NM_014467.2(SRPX2):c.481C>A (p.Arg161=) rs150552508
NM_014491.3(FOXP2):c.1770-4dupT rs398005923
NM_014491.3(FOXP2):c.483A>G (p.Gln161=) rs62640396
NM_014491.3(FOXP2):c.522_524delACA (p.Gln191del) rs398124272
NM_014491.3(FOXP2):c.552A>G (p.Gln184=) rs146945410
NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln) rs111544687
NM_014795.3(ZEB2):c.1161A>G (p.Leu387=) rs146673563
NM_014795.3(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288
NM_014795.3(ZEB2):c.1410T>A (p.Thr470=) rs34890427
NM_014795.3(ZEB2):c.1438G>T (p.Ala480Ser) rs143854197
NM_014795.3(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_014795.3(ZEB2):c.1840C>T (p.Leu614=) rs145201706
NM_014795.3(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563
NM_014795.3(ZEB2):c.2203C>T (p.Pro735Ser) rs144154908
NM_014795.3(ZEB2):c.2230A>G (p.Ile744Val) rs112005830
NM_014795.3(ZEB2):c.2255C>T (p.Thr752Met) rs143438888
NM_014795.3(ZEB2):c.2361T>C (p.Asn787=) rs201567433
NM_014795.3(ZEB2):c.2766A>T (p.Pro922=) rs185223937
NM_014795.3(ZEB2):c.304A>T (p.Ile102Phe) rs201109457
NM_014795.3(ZEB2):c.3640A>G (p.Met1214Val) rs199951665
NM_014795.3(ZEB2):c.489C>T (p.Ile163=) rs138859323
NM_014795.3(ZEB2):c.702C>T (p.His234=) rs140169964
NM_014795.3(ZEB2):c.759C>T (p.Arg253=) rs150853991
NM_014795.3(ZEB2):c.798G>C (p.Gly266=) rs34961586
NM_014795.3(ZEB2):c.930C>T (p.Tyr310=) rs6711223
NM_014795.3(ZEB2):c.9G>C (p.Gln3His) rs149882004
NM_015100.3(POGZ):c.4089T>G (p.His1363Gln) rs142860188
NM_015100.3(POGZ):c.757C>T (p.Pro253Ser)
NM_015107.2(PHF8):c.2131G>A (p.Glu711Lys) rs41306749
NM_015107.2(PHF8):c.219T>A (p.Asp73Glu) rs148664730
NM_015107.2(PHF8):c.2720G>A (p.Arg907His) rs142630105
NM_015107.2(PHF8):c.2796_2798delCTC (p.Ser933del) rs782660284
NM_015185.2(ARHGEF9):c.1092C>T (p.Gly364=) rs56375542
NM_015185.2(ARHGEF9):c.1162A>G (p.Met388Val)
NM_015185.2(ARHGEF9):c.330G>A (p.Glu110=) rs373866956
NM_015185.2(ARHGEF9):c.561C>T (p.His187=) rs150129110
NM_015185.2(ARHGEF9):c.654G>A (p.Gln218=) rs140777637
NM_015185.2(ARHGEF9):c.918C>G (p.Asp306Glu) rs143490560
NM_015265.3(SATB2):c.1818G>T (p.Pro606=) rs141436870
NM_015265.3(SATB2):c.210C>T (p.Asp70=) rs34311963
NM_015265.3(SATB2):c.2121C>T (p.Ser707=) rs141424911
NM_015265.3(SATB2):c.2176G>A (p.Ala726Thr) rs551624897
NM_015265.3(SATB2):c.405C>T (p.Pro135=) rs150990155
NM_015339.4(ADNP):c.1063G>A (p.Ala355Thr) rs200625964
NM_015339.4(ADNP):c.3279C>T (p.Ala1093=) rs142247083
NM_015979.3(MED23):c.3330T>C (p.Ala1110=) rs77187818
NM_015979.3(MED23):c.3837G>A (p.Ala1279=) rs150070422
NM_015979.3(MED23):c.40-5_40-4insT rs200823095
NM_016032.3(ZDHHC9):c.975C>T (p.Ser325=) rs139619000
NM_016219.4(MAN1B1):c.1229G>A (p.Arg410His) rs145477274
NM_016219.4(MAN1B1):c.1255-5C>T rs73569532
NM_016219.4(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549
NM_016219.4(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585
NM_016219.4(MAN1B1):c.1485A>G (p.Arg495=) rs113472164
NM_016219.4(MAN1B1):c.1695G>A (p.Thr565=) rs372125925
NM_016219.4(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555
NM_016219.4(MAN1B1):c.1761C>G (p.Val587=) rs115889896
NM_016219.4(MAN1B1):c.1765-5C>A rs12115325
NM_016219.4(MAN1B1):c.176A>G (p.Asn59Ser) rs968733
NM_016219.4(MAN1B1):c.1800C>T (p.Thr600=) rs146417316
NM_016219.4(MAN1B1):c.183C>T (p.Asp61=) rs202182837
NM_016219.4(MAN1B1):c.1905G>T (p.Ser635=) rs114484315
NM_016219.4(MAN1B1):c.1932C>T (p.Val644=) rs34355967
NM_016219.4(MAN1B1):c.1956T>C (p.Pro652=) rs75234317
NM_016219.4(MAN1B1):c.1980C>T (p.Phe660=) rs140496149
NM_016219.4(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958
NM_016219.4(MAN1B1):c.2046T>C (p.Asp682=) rs4880091
NM_016219.4(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962
NM_016219.4(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965
NM_016219.4(MAN1B1):c.347A>G (p.Glu116Gly) rs115335100
NM_016219.4(MAN1B1):c.403G>A (p.Val135Ile) rs75442795
NM_016219.4(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585
NM_016219.4(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515
NM_016219.4(MAN1B1):c.635T>G (p.Val212Gly) rs186504463
NM_016219.4(MAN1B1):c.657C>T (p.Thr219=) rs564784943
NM_016219.4(MAN1B1):c.717A>G (p.Thr239=) rs112434939
NM_016219.4(MAN1B1):c.744T>C (p.Tyr248=) rs138435910
NM_016219.4(MAN1B1):c.794G>A (p.Arg265His) rs114057640
NM_016725.2(FOLR1):c.157T>C (p.Leu53=) rs143413500
NM_016725.2(FOLR1):c.292C>T (p.Arg98Trp) rs76191655
NM_016725.2(FOLR1):c.321C>T (p.Tyr107=) rs145674759
NM_016725.2(FOLR1):c.493+2T>C rs144637717
NM_016725.2(FOLR1):c.508G>A (p.Ala170Thr) rs139633601
NM_016725.2(FOLR1):c.588C>T (p.Ser196=) rs755278391
NM_017721.4(CC2D1A):c.1015A>C (p.Thr339Pro) rs11883041
NM_017721.4(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054
NM_017721.4(CC2D1A):c.1281T>C (p.Gly427=) rs10410239
NM_017721.4(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486
NM_017721.4(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_017721.4(CC2D1A):c.1974C>T (p.Leu658=) rs147905122
NM_017721.4(CC2D1A):c.2088A>G (p.Lys696=) rs73925404
NM_017721.4(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777
NM_017721.4(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259
NM_017721.4(CC2D1A):c.252G>A (p.Pro84=) rs7250180
NM_017721.4(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628
NM_017721.4(CC2D1A):c.905G>A (p.Arg302Gln) rs73922801
NM_017721.4(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704
NM_017745.5(BCOR):c.1650C>T (p.Thr550=) rs17145653
NM_017745.5(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_017745.5(BCOR):c.408C>T (p.Ala136=) rs139802143
NM_017745.5(BCOR):c.4875-4G>T rs5963725
NM_017755.5(NSUN2):c.1749G>A (p.Thr583=) rs13181449
NM_017755.5(NSUN2):c.1879G>A (p.Val627Ile) rs2303708
NM_017755.5(NSUN2):c.2043G>A (p.Arg681=) rs150785220
NM_017755.5(NSUN2):c.2143G>A (p.Val715Ile) rs112951498
NM_017755.5(NSUN2):c.2193C>T (p.Asp731=) rs3822434
NM_017755.5(NSUN2):c.21T>C (p.Gly7=) rs184594943
NM_017755.5(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771
NM_017755.5(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_017755.5(NSUN2):c.22C>T (p.Arg8Trp) rs181415619
NM_017755.5(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211
NM_017755.5(NSUN2):c.258C>T (p.His86=) rs141912087
NM_017755.5(NSUN2):c.510G>A (p.Leu170=) rs144888290
NM_017755.5(NSUN2):c.51G>A (p.Glu17=) rs10062086
NM_017780.3(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.3(CHD7):c.1029C>T (p.Ser343=) rs570815501
NM_017780.3(CHD7):c.1179A>G (p.Pro393=) rs111238892
NM_017780.3(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.3(CHD7):c.1419G>C (p.Gly473=) rs186394299
NM_017780.3(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.3(CHD7):c.1672C>G (p.Pro558Ala)
NM_017780.3(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.3(CHD7):c.2053_2058dupGCAAAA (p.Lys686_Thr687insAlaLys) rs377139749
NM_017780.3(CHD7):c.2067G>A (p.Thr689=) rs34979623
NM_017780.3(CHD7):c.2124T>C (p.Ser708=) rs79302359
NM_017780.3(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.3(CHD7):c.2185A>G (p.Lys729Glu)
NM_017780.3(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.3(CHD7):c.2377-3dupT rs752271550
NM_017780.3(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.3(CHD7):c.2680A>G (p.Thr894Ala) rs377662366
NM_017780.3(CHD7):c.2831G>A (p.Arg944His) rs117506164
NM_017780.3(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.3(CHD7):c.309G>A (p.Ser103=) rs115293759
NM_017780.3(CHD7):c.3222C>T (p.Ser1074=) rs199675568
NM_017780.3(CHD7):c.360C>T (p.Gly120=) rs375438732
NM_017780.3(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814
NM_017780.3(CHD7):c.4851T>C (p.Gly1617=) rs181927766
NM_017780.3(CHD7):c.5051-4C>T rs71640288
NM_017780.3(CHD7):c.5115G>A (p.Pro1705=) rs191081055
NM_017780.3(CHD7):c.5307C>T (p.Ala1769=) rs16926499
NM_017780.3(CHD7):c.5754T>C (p.Thr1918=) rs61746542
NM_017780.3(CHD7):c.5757C>G (p.Ala1919=) rs79203206
NM_017780.3(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234
NM_017780.3(CHD7):c.6111C>T (p.Pro2037=) rs41312170
NM_017780.3(CHD7):c.6135G>A (p.Pro2045=) rs6999971
NM_017780.3(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.3(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124
NM_017780.3(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399
NM_017780.3(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.3(CHD7):c.6660T>G (p.Gly2220=) rs34527521
NM_017780.3(CHD7):c.6711C>T (p.Ser2237=) rs370385319
NM_017780.3(CHD7):c.6738G>A (p.Glu2246=) rs61729627
NM_017780.3(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228
NM_017780.3(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.3(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.3(CHD7):c.7165-5A>G rs376076407
NM_017780.3(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017780.3(CHD7):c.7278G>A (p.Gln2426=) rs187311127
NM_017780.3(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988
NM_017780.3(CHD7):c.7356A>G (p.Thr2452=) rs2272727
NM_017780.3(CHD7):c.7551A>G (p.Lys2517=) rs202020722
NM_017780.3(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017780.3(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.3(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489
NM_017780.3(CHD7):c.8416C>G (p.Leu2806Val) rs45521933
NM_017780.3(CHD7):c.8446T>C (p.Leu2816=) rs375204972
NM_017780.3(CHD7):c.856A>G (p.Arg286Gly) rs61995713
NM_017780.3(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728
NM_017780.3(CHD7):c.8790C>T (p.Ala2930=) rs61736186
NM_017780.3(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820
NM_017890.4(VPS13B):c.10018G>A (p.Val3340Ile) rs116746734
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.10920C>T (p.Ala3640=) rs781485612
NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) rs61754107
NM_017890.4(VPS13B):c.11007C>T (p.Asn3669=) rs745337140
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.11270G>A (p.Arg3757Gln) rs149318176
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.11825_11827dupATG (p.Asp3942_Gly3943insAsp) rs386834068
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.1536A>G (p.Glu512=) rs145969836
NM_017890.4(VPS13B):c.1782T>C (p.Ile594=) rs145648860
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.3204A>G (p.Thr1068=)
NM_017890.4(VPS13B):c.3243A>G (p.Pro1081=) rs34961653
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235
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.4197T>C (p.Gly1399=) rs149796549
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366
NM_017890.4(VPS13B):c.5576C>T (p.Ser1859Leu) rs144257406
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.6530-4dupT rs398124337
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.9169G>T (p.Asp3057Tyr) rs140095832
NM_017890.4(VPS13B):c.9424A>G (p.Ser3142Gly) rs113671330
NM_017890.4(VPS13B):c.9444C>T (p.Cys3148=) rs745668942
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) rs36074608
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_018026.3(PACS1):c.102G>A (p.Pro34=) rs75352646
NM_018026.3(PACS1):c.2061T>A (p.Ser687=) rs572697
NM_018026.3(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.1535C>T (p.Ser512Phe) rs201695275
NM_018328.4(MBD5):c.1596A>G (p.Val532=) rs114611333
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.2162C>T (p.Pro721Leu) rs138639760
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.4038T>C (p.Asn1346=) rs147744781
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_018977.3(NLGN3):c.10C>T (p.Arg4Trp) rs376877146
NM_018977.3(NLGN3):c.1894A>G (p.Thr632Ala) rs144914894
NM_018977.3(NLGN3):c.282G>A (p.Ser94=) rs143817848
NM_018977.3(NLGN3):c.534T>C (p.Gly178=) rs144247281
NM_018977.3(NLGN3):c.543C>G (p.Pro181=) rs35794236
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.1029_1043del15 (p.Ala346_Ala350del) rs775733700
NM_020732.3(ARID1B):c.1041_1043dup (p.Ala350_Gly351insAla)
NM_020732.3(ARID1B):c.1069_1071delGGC (p.Gly357del) rs797045268
NM_020732.3(ARID1B):c.1069_1071dup (p.Gly357_Tyr358insGly) rs797045268
NM_020732.3(ARID1B):c.121_123delTCC (p.Ser41del) rs770512547
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.2985G>A (p.Pro995=) rs537901478
NM_020732.3(ARID1B):c.357_362dupGCAGCA (p.Gln131_His132insGlnGln) rs587779743
NM_020732.3(ARID1B):c.384_386delGCA (p.Gln131del) rs587779744
NM_020732.3(ARID1B):c.384_386dupGCA (p.Gln131_His132insGln) rs587779744
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.679_680delGTinsCC (p.Val227Pro) rs1554247605
NM_020732.3(ARID1B):c.942C>A (p.Gly314=) rs184815562
NM_020732.3(ARID1B):c.980_985delGAGGAG (p.Gly327_Gly328del) rs747790383
NM_020742.3(NLGN4X):c.1251G>C (p.Arg417=) rs61741754
NM_020742.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333
NM_020742.3(NLGN4X):c.1779C>G (p.Leu593=) rs3747334
NM_020742.3(NLGN4X):c.2223C>T (p.His741=) rs541646409
NM_020742.3(NLGN4X):c.2280C>T (p.Tyr760=) rs75350246
NM_020742.3(NLGN4X):c.558C>T (p.Asp186=) rs145911431
NM_020742.3(NLGN4X):c.897A>G (p.Ile299Met) rs151073358
NM_020742.3(NLGN4X):c.933C>T (p.Thr311=) rs7049300
NM_020988.2(GNAO1):c.27G>A (p.Glu9=) rs139334934
NM_020988.2(GNAO1):c.414A>G (p.Gln138=) rs141057479
NM_020988.2(GNAO1):c.654C>T (p.Asp218=) rs139322464
NM_020988.2(GNAO1):c.687C>T (p.Ser229=) rs546569747
NM_021007.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_021007.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_021007.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820
NM_021007.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780
NM_021007.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642
NM_021007.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466
NM_021007.2(SCN2A):c.1959G>A (p.Val653=) rs200546427
NM_021007.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_021007.2(SCN2A):c.2050C>T (p.Arg684Trp) rs200783308
NM_021007.2(SCN2A):c.24G>A (p.Pro8=) rs149534277
NM_021007.2(SCN2A):c.2706C>G (p.Leu902=) rs192461273
NM_021007.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_021007.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029
NM_021007.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286
NM_021007.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_021007.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450
NM_021007.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137
NM_021007.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_021007.2(SCN2A):c.4782G>C (p.Trp1594Cys) rs1057521747
NM_021007.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369
NM_021007.2(SCN2A):c.5155T>C (p.Leu1719=) rs199698414
NM_021007.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_021007.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238
NM_021007.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515
NM_021007.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939
NM_021007.2(SCN2A):c.5517C>T (p.Leu1839=) rs148424455
NM_021007.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814
NM_021007.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869
NM_021007.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979
NM_021007.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_021007.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_021007.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216
NM_021007.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_021007.2(SCN2A):c.960T>C (p.Ile320=) rs185590667
NM_021072.3(HCN1):c.1041C>T (p.Tyr347=) rs140235085
NM_021072.3(HCN1):c.124C>T (p.Pro42Ser) rs56164833
NM_021072.3(HCN1):c.140G>T (p.Gly47Val) rs544994462
NM_021072.3(HCN1):c.159C>G (p.His53Gln) rs10066808
NM_021072.3(HCN1):c.1619-3T>C rs376434225
NM_021072.3(HCN1):c.1783+4C>T rs188586020
NM_021072.3(HCN1):c.1797A>G (p.Ser599=) rs148932124
NM_021072.3(HCN1):c.192_206dup (p.Gly74_Glu75insGlyGlyGlyGlyGly)
NM_021072.3(HCN1):c.200_223del24 (p.Gly67_Gly74del) rs748849525
NM_021072.3(HCN1):c.215_223delGCGGCGGCG (p.Gly72_Gly74del) rs747975797
NM_021072.3(HCN1):c.2172C>T (p.Ala724=) rs56217199
NM_021072.3(HCN1):c.218_223delGCGGCG (p.Gly73_Gly74del) rs747975797
NM_021072.3(HCN1):c.2227C>G (p.Pro743Ala) rs560701504
NM_021072.3(HCN1):c.259C>T (p.Pro87Ser) rs370113959
NM_021072.3(HCN1):c.336C>A (p.Arg112=) rs794726951
NM_021120.3(DLG3):c.2076C>T (p.Ile692=) rs535820581
NM_021120.3(DLG3):c.409-4G>T rs188475429
NM_021120.3(DLG3):c.429C>T (p.Phe143=) rs144225009
NM_021998.4(ZNF711):c.798A>G (p.Thr266=) rs72549428
NM_022089.3(ATP13A2):c.1005C>T (p.Ala335=) rs56290406
NM_022089.3(ATP13A2):c.1128C>T (p.Cys376=) rs148970081
NM_022089.3(ATP13A2):c.1203C>T (p.Cys401=) rs148026506
NM_022089.3(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969
NM_022089.3(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022089.3(ATP13A2):c.1614C>T (p.Pro538=) rs56351817
NM_022089.3(ATP13A2):c.1617G>T (p.Leu539=) rs61739752
NM_022089.3(ATP13A2):c.1926G>A (p.Ala642=) rs200916673
NM_022089.3(ATP13A2):c.2198C>T (p.Thr733Met)
NM_022089.3(ATP13A2):c.2348G>A (p.Arg783Gln) rs137955309
NM_022089.3(ATP13A2):c.2367C>T (p.Leu789=) rs140048110
NM_022089.3(ATP13A2):c.2724G>A (p.Ser908=) rs79724242
NM_022089.3(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202
NM_022089.3(ATP13A2):c.3297C>T (p.Pro1099=) rs756650754
NM_022089.3(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674
NM_022089.3(ATP13A2):c.477+2T>G rs758014228
NM_022089.3(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069
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.1558G>A (p.Ala520Thr) rs559617787
NM_022455.4(NSD1):c.1690G>T (p.Ala564Ser) rs116520623
NM_022455.4(NSD1):c.1792T>C (p.Leu598=) rs28932176
NM_022455.4(NSD1):c.1980C>T (p.Asn660=) rs140072393
NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) rs28932177
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.3106G>C (p.Ala1036Pro) rs28932179
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.4473G>T (p.Ser1491=) rs150920473
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.4605C>T (p.Arg1535=) rs140229717
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.7636G>A (p.Ala2546Thr) rs78247455
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) rs143159630
NM_024757.4(EHMT1):c.1044G>A (p.Ser348=) rs1129767
NM_024757.4(EHMT1):c.1089T>C (p.Gly363=) rs1129768
NM_024757.4(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198
NM_024757.4(EHMT1):c.128C>G (p.Ala43Gly) rs79514677
NM_024757.4(EHMT1):c.129A>T (p.Ala43=) rs76684726
NM_024757.4(EHMT1):c.1368C>T (p.Leu456=) rs45450992
NM_024757.4(EHMT1):c.148G>A (p.Ala50Thr) rs78104547
NM_024757.4(EHMT1):c.150G>A (p.Ala50=) rs371344592
NM_024757.4(EHMT1):c.1655G>A (p.Arg552Gln) rs747623277
NM_024757.4(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386
NM_024757.4(EHMT1):c.1869C>T (p.Asn623=) rs7868455
NM_024757.4(EHMT1):c.1947G>A (p.Ser649=) rs139206060
NM_024757.4(EHMT1):c.1950C>T (p.Thr650=) rs199839806
NM_024757.4(EHMT1):c.211A>G (p.Lys71Glu) rs794727519
NM_024757.4(EHMT1):c.251G>A (p.Gly84Asp) rs142887098
NM_024757.4(EHMT1):c.2695A>G (p.Ile899Val) rs144085805
NM_024757.4(EHMT1):c.3000C>T (p.Pro1000=) rs35943616
NM_024757.4(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.4(EHMT1):c.3016G>A (p.Val1006Met) rs33999936
NM_024757.4(EHMT1):c.3028G>A (p.Val1010Met) rs200237137
NM_024757.4(EHMT1):c.3087G>A (p.Val1029=) rs11137244
NM_024757.4(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.4(EHMT1):c.3198C>T (p.Asp1066=) rs367688971
NM_024757.4(EHMT1):c.3355G>A (p.Val1119Ile)
NM_024757.4(EHMT1):c.354T>G (p.Ser118=) rs142271310
NM_024757.4(EHMT1):c.3735C>T (p.Arg1245=) rs141797498
NM_024757.4(EHMT1):c.444T>C (p.Pro148=) rs3812497
NM_024757.4(EHMT1):c.480C>T (p.Gly160=) rs150135875
NM_024757.4(EHMT1):c.499G>A (p.Ala167Thr) rs141282876
NM_024757.4(EHMT1):c.526C>T (p.Pro176Ser) rs34704821
NM_024757.4(EHMT1):c.576G>A (p.Pro192=) rs574514175
NM_024757.4(EHMT1):c.581C>T (p.Pro194Leu) rs35570782
NM_024757.4(EHMT1):c.824-5_824-3delTTT rs34385417
NM_024757.4(EHMT1):c.905A>G (p.Lys302Arg) rs565065320
NM_030665.3(RAI1):c.1279C>T (p.Leu427=) rs34898721
NM_030665.3(RAI1):c.1524G>A (p.Thr508=) rs141826168
NM_030665.3(RAI1):c.1538A>G (p.Gln513Arg) rs147091667
NM_030665.3(RAI1):c.1941C>T (p.Ser647=) rs140198185
NM_030665.3(RAI1):c.1992G>A (p.Pro664=) rs8067439
NM_030665.3(RAI1):c.264G>A (p.Gln88=) rs61999281
NM_030665.3(RAI1):c.269G>C (p.Gly90Ala) rs3803763
NM_030665.3(RAI1):c.2728T>G (p.Ser910Ala)
NM_030665.3(RAI1):c.2907C>T (p.Asp969=) rs141757356
NM_030665.3(RAI1):c.3030C>A (p.Ala1010=) rs542714936
NM_030665.3(RAI1):c.3158C>T (p.Pro1053Leu) rs748386061
NM_030665.3(RAI1):c.3357C>T (p.Ser1119=) rs139448147
NM_030665.3(RAI1):c.3589G>C (p.Gly1197Arg)
NM_030665.3(RAI1):c.3781_3783delGAG (p.Glu1261del) rs149716029
NM_030665.3(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483
NM_030665.3(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375
NM_030665.3(RAI1):c.4311T>C (p.Pro1437=) rs4925112
NM_030665.3(RAI1):c.4512G>T (p.Leu1504=) rs117995220
NM_030665.3(RAI1):c.4526A>G (p.Gln1509Arg) rs140063274
NM_030665.3(RAI1):c.4530C>T (p.Pro1510=) rs35686634
NM_030665.3(RAI1):c.4652C>T (p.Ser1551Leu) rs202158738
NM_030665.3(RAI1):c.493C>A (p.Pro165Thr) rs11649804
NM_030665.3(RAI1):c.5036C>T (p.Ala1679Val) rs142981643
NM_030665.3(RAI1):c.516C>A (p.His172Gln) rs147481626
NM_030665.3(RAI1):c.5601T>C (p.Ile1867=) rs3818717
NM_030665.3(RAI1):c.610C>T (p.Pro204Ser) rs138332224
NM_030665.3(RAI1):c.725C>T (p.Pro242Leu) rs150563155
NM_030665.3(RAI1):c.776C>T (p.Pro259Leu) rs758661378
NM_030665.3(RAI1):c.852_872del21 (p.Gln285_Gln291del) rs371983878
NM_030665.3(RAI1):c.861_872delGCAGCAGCAGCA (p.Gln288_Gln291del) rs371983878
NM_030665.3(RAI1):c.864_872delGCAGCAGCA (p.Gln289_Gln291del) rs371983878
NM_030665.3(RAI1):c.870_872dupGCA (p.Gln291_Ala292insGln) rs371983878
NM_030665.4(RAI1):c.832_849del (p.Gln286_Gln291del)
NM_031407.6(HUWE1):c.10551G>T (p.Leu3517=) rs61730217
NM_031407.6(HUWE1):c.11625G>A (p.Ala3875=) rs782743763
NM_031407.6(HUWE1):c.1188C>T (p.Tyr396=) rs782115290
NM_031407.6(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.6(HUWE1):c.12177T>C (p.Gly4059=) rs426298
NM_031407.6(HUWE1):c.12573C>G (p.Pro4191=) rs140734968
NM_031407.6(HUWE1):c.12903A= (p.Thr4301=)
NM_031407.6(HUWE1):c.2109A>G (p.Ser703=) rs6638360
NM_031407.6(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265
NM_031407.6(HUWE1):c.3966G>A (p.Leu1322=) rs140959967
NM_031407.6(HUWE1):c.4503C>T (p.Pro1501=) rs144449744
NM_031407.6(HUWE1):c.5091A>G (p.Gly1697=) rs149893977
NM_031407.6(HUWE1):c.5716+5G>A rs139135300
NM_031407.6(HUWE1):c.6031-4T>A rs139283158
NM_031407.6(HUWE1):c.654T>C (p.Ser218=) rs148129382
NM_031407.6(HUWE1):c.99A>G (p.Gln33=) rs61743595
NM_031466.7(TRAPPC9):c.1458C>T (p.Tyr486=) rs148976893
NM_031466.7(TRAPPC9):c.160A>G (p.Ser54Gly) rs148523016
NM_031466.7(TRAPPC9):c.1752C>T (p.Phe584=) rs34179337
NM_031466.7(TRAPPC9):c.1986C>T (p.Asn662=) rs12549048
NM_031466.7(TRAPPC9):c.2163C>T (p.Ser721=) rs117685875
NM_031466.7(TRAPPC9):c.2586C>T (p.Gly862=) rs11166965
NM_031466.7(TRAPPC9):c.3091G>A (p.Gly1031Ser) rs114949291
NM_031466.7(TRAPPC9):c.3093T= (p.Gly1031=) rs2614718
NM_031466.7(TRAPPC9):c.3282G>A (p.Glu1094=) rs142048892
NM_031466.7(TRAPPC9):c.3306C>T (p.Asn1102=) rs148805943
NM_031466.7(TRAPPC9):c.3363C>T (p.Asp1121=) rs144383785
NM_031466.7(TRAPPC9):c.3457G>A (p.Val1153Ile) rs35578974
NM_031466.7(TRAPPC9):c.3519C>T (p.Tyr1173=) rs58740567
NM_031466.7(TRAPPC9):c.3543C>T (p.Phe1181=) rs112551069
NM_031466.7(TRAPPC9):c.3573+4C>T rs79877357
NM_031466.7(TRAPPC9):c.3585C>T (p.Ser1195=) rs148857575
NM_031466.7(TRAPPC9):c.3705C>A (p.Pro1235=) rs373979305
NM_031466.7(TRAPPC9):c.3708T>G (p.Ser1236Arg) rs147127279
NM_031466.7(TRAPPC9):c.453C>T (p.Leu151=) rs112997540
NM_031466.7(TRAPPC9):c.501T>C (p.Gly167=) rs3735801
NM_031466.7(TRAPPC9):c.582T>C (p.Phe194=) rs3735802
NM_031466.7(TRAPPC9):c.651G>A (p.Gly217=) rs34457678
NM_031466.7(TRAPPC9):c.693T>C (p.Ala231=) rs61739560
NM_031466.7(TRAPPC9):c.705C>T (p.Asn235=) rs3735803
NM_031466.7(TRAPPC9):c.708C>T (p.Tyr236=) rs115986561
NM_031466.7(TRAPPC9):c.849G>A (p.Lys283=) rs57593250
NM_031466.7(TRAPPC9):c.882T>C (p.His294=) rs61736350
NM_031844.2(HNRNPU):c.1215G>A (p.Val405=) rs147232928
NM_031844.2(HNRNPU):c.141C>T (p.Ala47=) rs111518952
NM_031844.2(HNRNPU):c.2166_2167+1delAGG rs575582638
NM_031844.2(HNRNPU):c.2169C>T (p.Ala723=) rs11537737
NM_031844.2(HNRNPU):c.507G>A (p.Gln169=) rs139561508
NM_032458.2(PHF6):c.729+4A>G rs188961105
NM_032458.2(PHF6):c.927C>T (p.Asp309=) rs112199174
NM_032682.5(FOXP1):c.1413A>G (p.Ala471=) rs144080925
NM_032682.5(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680
NM_032682.5(FOXP1):c.1709A>G (p.Asn570Ser) rs140161845
NM_032682.5(FOXP1):c.1762G>A (p.Ala588Thr) rs202173892
NM_032682.5(FOXP1):c.1890-5T>C rs187666567
NM_032682.5(FOXP1):c.44C>T (p.Ala15Val) rs532329866
NM_033517.1(SHANK3):c.1803G>A (p.Thr601=) rs73892912
NM_033517.1(SHANK3):c.2265+1G>A rs1396379503
NM_033517.1(SHANK3):c.271C>T (p.Arg91Ter)
NM_033517.1(SHANK3):c.3893G>A (p.Arg1298Lys) rs201483867
NM_033517.1(SHANK3):c.4176C>G (p.Leu1392=) rs906873431
NM_080632.2(UPF3B):c.1073G>A (p.Arg358His) rs181034787
NM_080632.2(UPF3B):c.1121G>A (p.Arg374His) rs143538947
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_130838.3(UBE3A):c.1209C>T (p.Asp403=) rs149506027
NM_130838.3(UBE3A):c.1344A>G (p.Thr448=) rs150331504
NM_130838.3(UBE3A):c.1707C>T (p.Tyr569=) rs139082033
NM_130838.3(UBE3A):c.313T>C (p.Leu105=) rs61734190
NM_130838.3(UBE3A):c.417A>T (p.Ala139=) rs28528079
NM_130838.3(UBE3A):c.532G>A (p.Ala178Thr) rs147145506
NM_133433.3(NIPBL):c.1056C>T (p.Ser352=) rs200440893
NM_133433.3(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.3(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.3(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.3(NIPBL):c.2469A>G (p.Lys823=) rs293756
NM_133433.3(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
NM_133433.3(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
NM_133433.3(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.3(NIPBL):c.3541A>C (p.Arg1181=) rs35748854
NM_133433.3(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.3(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
NM_133433.3(NIPBL):c.6109-3T>C rs145778995
NM_133433.3(NIPBL):c.6613A>G (p.Ser2205Gly) rs587784018
NM_133433.3(NIPBL):c.6645A>G (p.Leu2215=) rs149186951
NM_133433.3(NIPBL):c.7641C>T (p.Leu2547=) rs587784046
NM_133433.3(NIPBL):c.781T>G (p.Ser261Ala) rs16903425
NM_133433.3(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.3(NIPBL):c.8337G>A (p.Thr2779=)
NM_133499.2(SYN1):c.1026G>A (p.Ala342=) rs777301855
NM_133499.2(SYN1):c.1107C>T (p.Ile369=) rs150248483
NM_133499.2(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_133499.2(SYN1):c.1968G>A (p.Pro656=) rs199844514
NM_133499.2(SYN1):c.426A>G (p.Lys142=) rs145911562
NM_133499.2(SYN1):c.510T>C (p.Asn170=) rs1142636
NM_133499.2(SYN1):c.912C>T (p.Ala304=) rs62636605
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040
NM_139058.2(ARX):c.1170C>T (p.Gly390=) rs761632870
NM_139058.2(ARX):c.1269C>T (p.His423=) rs794727656
NM_139058.2(ARX):c.1318_1320delGCC (p.Ala440del) rs398124508
NM_139058.2(ARX):c.1318_1320dupGCC (p.Ala440_Phe441insAla) rs398124508
NM_139058.2(ARX):c.1671G>A (p.Thr557=) rs190910161
NM_139058.2(ARX):c.306G>A (p.Ala102=) rs587783196
NM_139058.2(ARX):c.333_335delGGC (p.Ala115del) rs387906492
NM_139058.2(ARX):c.333_335dupGGC (p.Ala115_Thr116insAla) rs387906492
NM_139058.2(ARX):c.441A>G (p.Ala147=) rs797045301
NM_139058.2(ARX):c.441_464del24 (p.Ala148_Ala155del) rs398124510
NM_139058.2(ARX):c.451_465del15 (p.Ala151_Ala155del)
NM_139058.2(ARX):c.807C>T (p.Ala269=) rs587783205
NM_145239.2(PRRT2):c.412C>G (p.Pro138Ala) rs79182085
NM_145239.2(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.2(PRRT2):c.612C>G (p.Pro204=) rs149260055
NM_145239.2(PRRT2):c.640G>C (p.Ala214Pro) rs745594874
NM_145239.2(PRRT2):c.644C>G (p.Pro215Arg) rs200926711
NM_145239.2(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.2(PRRT2):c.649dupC (p.Arg217Profs) rs587778771
NM_145239.2(PRRT2):c.67G>A (p.Glu23Lys) rs140383655
NM_152564.4(VPS13B):c.2451T>C (p.His817=) rs114120664
NM_153252.4(BRWD3):c.2325+5G>A rs186391561
NM_153252.4(BRWD3):c.33G>A (p.Glu11=) rs139071237
NM_153252.4(BRWD3):c.5100T>C (p.Gly1700=) rs140852252
NM_153252.4(BRWD3):c.5130G>T (p.Gly1710=) rs146425236
NM_153252.4(BRWD3):c.597A>C (p.Ser199=) rs142085721
NM_153380.3(ZNF41):c.1578T>A (p.Ala526=) rs148848609
NM_153380.3(ZNF41):c.1997C>T (p.Ala666Val) rs144970008
NM_153380.3(ZNF41):c.2114G>A (p.Arg705His) rs144904486
NM_153380.3(ZNF41):c.374T>G (p.Ile125Arg) rs17147624
NM_153380.3(ZNF41):c.590A>G (p.Lys197Arg) rs148585367
NM_153380.3(ZNF41):c.660T>G (p.Asn220Lys) rs34301930
NM_153380.3(ZNF41):c.786G>A (p.Gln262=) rs2498490
NM_153380.3(ZNF41):c.945T>G (p.Asp315Glu) rs2498170
NM_171998.3(RAB39B):c.543A>G (p.Thr181=) rs369970931
NM_173495.2(PTCHD1):c.1311T>C (p.His437=) rs150186077
NM_173495.2(PTCHD1):c.1332C>T (p.Val444=) rs138702144
NM_173495.2(PTCHD1):c.1494C>T (p.Thr498=) rs138676073
NM_173495.2(PTCHD1):c.2041G>A (p.Val681Ile) rs150912089
NM_173495.2(PTCHD1):c.657C>T (p.Asn219=) rs144982584
NM_173495.2(PTCHD1):c.858T>C (p.Cys286=) rs5926304
NM_173495.2(PTCHD1):c.93G>A (p.Ala31=) rs12014412
NM_174963.4(ST3GAL3):c.825C>T (p.Arg275=) rs115003742
NM_176787.4(PIGN):c.1617T>C (p.Tyr539=) rs147306123
NM_176787.4(PIGN):c.2238A>G (p.Ile746Met) rs200658159
NM_176787.4(PIGN):c.2577-5dup rs138671843
NM_176787.4(PIGN):c.2620-5delT rs11437076
NM_176787.4(PIGN):c.2751G>T (p.Thr917=) rs200481058
NM_176787.4(PIGN):c.2783G>A (p.Ser928Asn) rs201397391
NM_176787.4(PIGN):c.528G>A (p.Thr176=) rs144304758
NM_178151.2(DCX):c.588T>C (p.Arg196=) rs138706968
NM_178151.2(DCX):c.856G>T (p.Ala286Ser) rs149495971
NM_198270.3(NHS):c.1651C>T (p.Pro551Ser) rs150688899
NM_198270.3(NHS):c.1697T>C (p.Met566Thr) rs187739639
NM_198270.3(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_198270.3(NHS):c.2141G>A (p.Arg714His) rs193921046
NM_198270.3(NHS):c.216_218delGCC (p.Pro73del) rs10590816
NM_198270.3(NHS):c.2530G>A (p.Ala844Thr) rs149609550
NM_198270.3(NHS):c.310_345del rs797045741
NM_198270.3(NHS):c.3138T>C (p.Ser1046=) rs56908561
NM_198270.3(NHS):c.3141A>G (p.Leu1047=) rs56691712
NM_198270.3(NHS):c.3311C>T (p.Ser1104Leu) rs145005596
NM_198270.3(NHS):c.3955T>C (p.Phe1319Leu) rs3747295
NM_198270.3(NHS):c.3988G>A (p.Asp1330Asn) rs148418212

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