MPEI
MCID: MLG120
MIFTS: 44

Malignant Migrating Partial Seizures of Infancy (MPEI)

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Malignant Migrating Partial Seizures of Infancy

MalaCards integrated aliases for Malignant Migrating Partial Seizures of Infancy:

Name: Malignant Migrating Partial Seizures of Infancy 20 43 58 29 6
Malignant Migrating Partial Epilepsy of Infancy 20 43 58
Migrating Partial Epilepsy of Infancy 20 43 58
Migrating Partial Seizures of Infancy 20 43 58
Mmpsi 20 43 58
Epilepsy of Infancy with Migrating Focal Seizures 20 58
Malignant Migrating Focal Seizures of Infancy 20 58
Early Infantile Epileptic Encephalopathy 14 20 43
Migrating Partial Seizures in Infancy 20 43
Eiee14 20 43
Mmpei 20 58
Mpei 20 58
Mpsi 20 58
Malignant Migrating Partial Seizures in Infancy 36
Epileptic Encephalopathy, Early Infantile, 14 70

Characteristics:

Orphanet epidemiological data:

58
malignant migrating focal seizures of infancy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

KEGG 36 H01815
Orphanet 58 ORPHA293181
UMLS 70 C3554195

Summaries for Malignant Migrating Partial Seizures of Infancy

MedlinePlus Genetics : 43 Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. Although affected individuals may develop normally at first, progression stalls and skills decline when seizures begin; as a result, affected individuals have profound developmental delay.The seizures in MMPSI are described as partial (or focal) because the seizure activity occurs in regions of the brain rather than affecting the entire brain. Seizure activity can appear in multiple locations in the brain or move (migrate) from one region to another during an episode. Depending on the region affected, seizures can involve sudden redness and warmth (flushing) of the face; drooling; short pauses in breathing (apnea); movement of the head or eyes to one side; twitches in the eyelids or tongue; chewing motions; or jerking of an arm, leg, or both on one side of the body. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking (tonic-clonic seizure). Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.Initially, the seizures associated with MMPSI are relatively infrequent, occurring every few weeks. Within a few months of the seizures starting, though, the frequency increases. Affected individuals can have clusters of five to 30 seizures several times a day. Each seizure typically lasts seconds to a couple of minutes, but they can be prolonged (classified as status epilepticus). In some cases, the seizure activity may be almost continuous for several days. After a year or more of persistent seizures, the episodes become less frequent.Seizures can affect growth of the brain and lead to a small head size (microcephaly). The problems with brain development can also cause profound developmental delay and intellectual impairment. Affected babies often lose the mental and motor skills they developed after birth, such as the ability to make eye contact and control their head movement. Many have weak muscle tone (hypotonia) and become "floppy." If seizures can be controlled for a short period, development may improve. Some affected children learn to reach for objects or walk. However, most children with this condition do not develop language skills.Because of the serious health problems caused by MMPSI, many affected individuals do not survive past infancy or early childhood.

MalaCards based summary : Malignant Migrating Partial Seizures of Infancy, also known as malignant migrating partial epilepsy of infancy, is related to developmental and epileptic encephalopathy 14 and seizure disorder, and has symptoms including clonus and twitching of facial muscles. An important gene associated with Malignant Migrating Partial Seizures of Infancy is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Neuroscience. The drugs Clopidogrel and Ticagrelor have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and tongue.

GARD : 20 Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy, a condition characterized by recurrent seizures. In MMPSI, specifically, partial seizures generally begin shortly after birth and are often not responsive to treatment. Although the seizures may occur relatively infrequently in the beginning, within a few months the frequency increases drastically with some affected people experiencing clusters of 5 to 30 seizures several times per day. Signs and symptoms associated with these episodes vary based on which part of the brain is affected during a given seizure. Although the seizures associated with MMPSI do eventually become less frequent, the long-term consequences of the condition may include profound developmental delay, microcephaly (unusually small head size), intellectual disability and a shortened lifespan (many do not survive past infancy or early childhood). Although the underlying cause of MMPSI is not fully understood, de novo mutations in certain genes have been identified in several affected people and are thought to be involved in the development of the condition. Even when a genetic cause is identified, most cases of MMPSI occur sporadically in people with no family history of the condition. Treatment is generally focused on minimizing recurrent seizures. Unfortunately, the seizures associated with MMPSI are usually not well-controlled with medications that are typically prescribed to treat epilepsy.

KEGG : 36 Malignant migrating partial seizures in infancy (MMPSI) are rare, severe early infantile onset epileptic encephalopathy. The common clinical features are seizure onset within the first 6 months of life, occurrence of migrating polymorphic focal seizures, and progressive deterioration of psychomotor development. Seizures in MMPSI are refractory to conventional treatment with anti-epileptic drugs (AEDs). Early and multiple video/EEG recordings are critical to detect the characteristic multifocal and asynchronous long lasting ictal discharges and are essential for MMPSI diagnosis. MMPSI is a genetically heterogeneous disorder with few known etiologies. Recently, mutations of several genes have been reported in sporadic cases of MMPSI.

Related Diseases for Malignant Migrating Partial Seizures of Infancy

Diseases related to Malignant Migrating Partial Seizures of Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 113, show less)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 14 32.7 SCN2A SCN1A KCNT1
2 seizure disorder 30.5 TBC1D24 SCN2A SCN1A LOC102724058
3 developmental and epileptic encephalopathy 34 30.4 SLC12A5 LOC113960611
4 benign familial infantile epilepsy 30.4 SCN2A SCN1A KCNT1
5 autosomal dominant nocturnal frontal lobe epilepsy 30.3 SCN2A SCN1A KCNT1
6 febrile seizures 30.1 SCN2A SCN1A LOC102724058
7 developmental and epileptic encephalopathy 1 30.0 TBC1D24 SLC25A22 SCN1A
8 ohtahara syndrome 29.7 SLC25A22 SCN2A SCN1A LOC102724058
9 lennox-gastaut syndrome 29.7 SLC25A22 SCN2A SCN1A KCNT1
10 alacrima, achalasia, and mental retardation syndrome 29.7 TBC1D24 SCN2A SCN1A LOC102724058
11 encephalopathy 29.7 SLC25A22 SCN2A SCN1A KCNT1
12 focal epilepsy 29.7 TBC1D24 SCN2A SCN1A LOC102724058 KCNT1
13 early myoclonic encephalopathy 29.4 TBC1D24 SLC25A22 SCN2A SCN1A KCNT1
14 epilepsy 29.3 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A PLCB1
15 dravet syndrome 28.6 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A LOC102724058
16 west syndrome 28.1 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A PLCB1
17 early infantile epileptic encephalopathy 27.7 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A PLCB1
18 developmental and epileptic encephalopathy 57 11.4
19 developmental and epileptic encephalopathy 12 11.3
20 scn1a-related seizure disorders 11.3
21 scheie syndrome 11.0
22 hypotonia 10.6
23 microcephaly 10.6
24 slc12a5-related epilepsy of infancy with migrating focal seizures 10.5
25 status epilepticus 10.4
26 rigidity and multifocal seizure syndrome, lethal neonatal 10.4
27 scoliosis 10.4
28 developmental and epileptic encephalopathy 10.4
29 movement disease 10.4
30 spasticity 10.4
31 rare epilepsy 10.3
32 hand skill, relative 10.3
33 seizures, benign familial infantile, 3 10.3
34 developmental and epileptic encephalopathy 3 10.3
35 developmental and epileptic encephalopathy 11 10.3
36 cyanosis, transient neonatal 10.3
37 developmental and epileptic encephalopathy 45 10.3
38 episodic ataxia, type 9 10.3
39 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.3
40 ptosis 10.3
41 tubulinopathy 10.3
42 kcnq2-related disorders 10.3
43 hypertonia 10.3
44 epilepsy, nocturnal frontal lobe, 5 10.2
45 developmental and epileptic encephalopathy 16 10.2
46 ciliary dyskinesia, primary, 28 10.2
47 deafness, autosomal dominant 65 10.2
48 hypokalemia 10.2
49 kcnt1-related epilepsy 10.2
50 tbc1d24-related disorders 10.2
51 autosomal dominant non-syndromic sensorineural deafness type dfna 10.2
52 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.2 TBC1D24 SCN2A
53 developmental and epileptic encephalopathy 9 10.2 SCN1A KCNT1
54 developmental and epileptic encephalopathy 13 10.2 SCN2A SCN1A
55 febrile seizures, familial, 5 10.2 SCN2A SCN1A
56 megalencephaly, autosomal dominant 10.2 SCN1A LOC102724058
57 reflex epilepsy 10.1 SCN2A SCN1A
58 megalencephaly 10.1 SCN1A LOC102724058
59 febrile seizures, familial, 2 10.1 SCN2A SCN1A
60 myoclonic epilepsy of infancy 10.1 SCN1A LOC102724058
61 early onset absence epilepsy 10.1 SCN2A SCN1A
62 scn1a seizure disorders 10.1 SCN1A LOC102724058
63 febrile seizures, familial, 1 10.1 SCN2A SCN1A
64 plagiocephaly 10.1 SCN1A LOC102724058
65 low-grade astrocytoma 10.1 SCN2A SCN1A
66 strabismus 10.1
67 congenital disorder of glycosylation, type ik 10.1
68 congenital disorder of glycosylation, type in 10.1
69 respiratory failure 10.1
70 mechanical strabismus 10.1
71 congenital disorders of n-linked glycosylation and multiple pathway 10.1
72 alg1-congenital disorder of glycosylation 10.1
73 myoclonus 10.1
74 infantile epilepsy syndrome 10.1
75 trigeminal nerve disease 10.1 SCN2A SCN1A
76 generalized epilepsy with febrile seizures plus, type 1 10.1 SCN1A LOC102724058
77 epilepsy with generalized tonic-clonic seizures 10.1 SCN2A SCN1A
78 generalized epilepsy with febrile seizures plus, type 2 10.1 SCN1A LOC102724058
79 mucopolysaccharidosis-plus syndrome 10.1
80 neuronal migration disorders 10.1 SCN1A LOC102724058
81 adolescence-adult electroclinical syndrome 10.1 SCN2A SCN1A
82 photosensitive epilepsy 10.1 SCN2A SCN1A
83 benign familial neonatal epilepsy 10.1 SCN2A SCN1A
84 hemimegalencephaly 10.1 SCN1A LOC102724058
85 hyperkalemic periodic paralysis 10.1 SCN2A SCN1A
86 generalized epilepsy with febrile seizures plus, type 7 10.1 SCN1A LOC102724058
87 erythromelalgia 10.1 SCN2A SCN1A
88 paramyotonia congenita of von eulenburg 10.1 SCN2A SCN1A
89 paroxysmal extreme pain disorder 10.0 SCN2A SCN1A
90 partial motor epilepsy 10.0 SCN2A SCN1A KCNT1
91 landau-kleffner syndrome 10.0 SCN2A SCN1A KCNT1
92 childhood electroclinical syndrome 10.0 SCN2A SCN1A KCNT1
93 leukoencephalopathy, hereditary diffuse, with spheroids 10.0 SCN1A LOC102724058
94 familial febrile seizures 10.0 TBC1D24 SCN2A SCN1A
95 polymicrogyria 10.0 SCN1A LOC102724058
96 hemiplegia 10.0 TBC1D24 SCN1A
97 glycogen storage disease ii 10.0
98 familial hemiplegic migraine 9.9 SCN1A LOC102724058
99 genetic epilepsy with febrile seizures plus 9.9 SCN2A SCN1A LOC102724058
100 migraine, familial hemiplegic, 3 9.9 SCN2A SCN1A LOC102724058
101 progressive myoclonus epilepsy 9.9 TBC1D24 SCN1A
102 brugada syndrome 9.9 SCN2A SCN1A KCNT1
103 pervasive developmental disorder 9.9 SLC12A5 SCN2A SCN1A
104 unverricht-lundborg syndrome 9.8 TBC1D24 SCN1A
105 generalized epilepsy with febrile seizures plus 9.8 SCN2A SCN1A LOC102724058 KCNT1
106 epilepsy, myoclonic juvenile 9.7 SLC12A5 SCN2A SCN1A KCNT1
107 childhood absence epilepsy 9.7 SLC12A5 SCN2A SCN1A KCNT1
108 infancy electroclinical syndrome 9.6 SLC25A22 SCN2A SCN1A KCNT1
109 benign neonatal seizures 9.6 SLC25A22 SCN2A SCN1A KCNT1
110 epilepsy, idiopathic generalized 9.5 SLC12A5 SCN2A SCN1A LOC113960611 KCNT1
111 neonatal period electroclinical syndrome 9.4 TBC1D24 SLC25A22 SCN2A SCN1A KCNT1
112 benign epilepsy with centrotemporal spikes 9.3 TBC1D24 SCN2A SCN1A PLCB1 LOC102724058 KCNT1
113 disease of mental health 8.9 TBC1D24 SLC12A5 SCN2A SCN1A PLCB1 LOC102724058

Graphical network of the top 20 diseases related to Malignant Migrating Partial Seizures of Infancy:



Diseases related to Malignant Migrating Partial Seizures of Infancy

Symptoms & Phenotypes for Malignant Migrating Partial Seizures of Infancy

UMLS symptoms related to Malignant Migrating Partial Seizures of Infancy:


clonus; twitching of facial muscles

Drugs & Therapeutics for Malignant Migrating Partial Seizures of Infancy

Drugs for Malignant Migrating Partial Seizures of Infancy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 2, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clopidogrel Approved 120202-66-6, 113665-84-2 60606
2
Ticagrelor Approved 274693-27-5 9871419

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Effect of Ticagrelor and Clopidogrel on Coronary Microcirculation in Patients With Acute Myocardial Infarction Completed NCT03104062

Search NIH Clinical Center for Malignant Migrating Partial Seizures of Infancy

Genetic Tests for Malignant Migrating Partial Seizures of Infancy

Genetic tests related to Malignant Migrating Partial Seizures of Infancy:

# Genetic test Affiliating Genes
1 Malignant Migrating Partial Seizures of Infancy 29

Anatomical Context for Malignant Migrating Partial Seizures of Infancy

MalaCards organs/tissues related to Malignant Migrating Partial Seizures of Infancy:

40
Brain, Eye, Tongue, Cortex

Publications for Malignant Migrating Partial Seizures of Infancy

Articles related to Malignant Migrating Partial Seizures of Infancy:

(showing 59, show less)
# Title Authors PMID Year
1
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 61 6
23526554 2013
2
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 6 61
23086397 2012
3
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy. 6
30868116 2019
4
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. 6
29390993 2018
5
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. 6
29196579 2018
6
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 6
29186148 2017
7
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 6
29100083 2017
8
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. 6
27779742 2017
9
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 6
28292732 2017
10
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 6
28428906 2017
11
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 6
27652284 2016
12
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. 6
27436767 2016
13
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 6
26993267 2016
14
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 6
26740507 2016
15
A targeted resequencing gene panel for focal epilepsy. 6
27029629 2016
16
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. 6
26597493 2016
17
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 6
26648591 2016
18
Quinidine in the treatment of KCNT1-positive epilepsies. 6
26369628 2015
19
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 6
25590979 2015
20
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. 6
26333769 2015
21
De novo KCNT1 mutations in early-onset epileptic encephalopathy. 6
26140313 2015
22
Mutations in KCNT1 cause a spectrum of focal epilepsies. 6
26122718 2015
23
Regional Specificity of GABAergic Regulation of Cross-Modal Plasticity in Mouse Visual Cortex after Unilateral Enucleation. 6
26269628 2015
24
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
25
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 6
25769375 2015
26
Human slack potassium channel mutations increase positive cooperativity between individual channels. 6
25482562 2014
27
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
28
Targeted treatment of migrating partial seizures of infancy with quinidine. 6
25042079 2014
29
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 6
24591078 2014
30
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. 6
24120652 2014
31
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. 6
27081515 2014
32
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 6
24029078 2013
33
TBC1D24 truncating mutation resulting in severe neurodegeneration. 6
23343562 2013
34
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 6
23086396 2012
35
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. 6
21087195 2010
36
VU0606170, a Selective Slack Channels Inhibitor, Decreases Calcium Oscillations in Cultured Cortical Neurons. 61
33143429 2020
37
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel. 61
32038177 2020
38
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox. 61
29542386 2018
39
A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures. 61
29037447 2018
40
Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy. 61
26784557 2016
41
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 61
24888894 2014
42
Genetic heterogeneity in malignant migrating partial seizures of infancy. 61
24243345 2014
43
Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population. 61
24279416 2014
44
Lack of pathogenic mutations in six patients with MMPSI. 61
24315024 2014
45
Genetics of the epilepsies: where are we and where are we going? 61
23429546 2013
46
KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes. 61
23278465 2013
47
Malignant migrating partial seizures of infancy controlled by stiripentol and clonazepam. 61
22521903 2013
48
[The syndrome of malignant migrating partial seizures in infancy or Coppola-Dulac syndrome (19 cases)]. 61
23612406 2013
49
Malignant migrating partial seizures in infancy. 61
23622207 2013
50
A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. 61
22197566 2012
51
Therapeutic hypothermia for refractory status epilepticus in a child with malignant migrating partial seizures of infancy and SCN1A mutation: a case report. 61
23667778 2012
52
De novo SCN1A mutations in migrating partial seizures of infancy. 61
21753172 2011
53
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. 61
21555645 2011
54
Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases. 61
21393094 2011
55
[Malignant migrating partial seizures of infancy: the experience of treatment of status epilepticus in infancy using intravenous valproate--convulex (a clinical case)]. 61
20873470 2010
56
Design of nateglinide controlled release tablet containing erosion matrix tablet and multiple administration study in normal beagle dogs. 61
19721250 2009
57
Epilepsy syndromes in infancy. 61
16638498 2006
58
A novel nonpeptidic caspase-3/7 inhibitor, (S)-(+)-5-[1-(2-methoxymethylpyrrolidinyl)sulfonyl]isatin reduces myocardial ischemic injury. 61
12450570 2002
59
Successful control with bromide of two patients with malignant migrating partial seizures in infancy. 61
10761836 2000

Variations for Malignant Migrating Partial Seizures of Infancy

ClinVar genetic disease variations for Malignant Migrating Partial Seizures of Infancy:

6 (showing 889, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBC1D24 NM_020705.3(TBC1D24):c.966-529GT[2] Microsatellite Pathogenic 56845 rs398122941 GRCh37: 16:2547710-2547711
GRCh38: 16:2497709-2497710
2 KCNT1 NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) SNV Pathogenic 92165 rs886044717 GRCh37: 9:138671269-138671269
GRCh38: 9:135779423-135779423
3 SLC12A5 NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) SNV Pathogenic 217905 rs863225305 GRCh37: 20:44674530-44674530
GRCh38: 20:46045891-46045891
4 SLC12A5 NM_020708.5(SLC12A5):c.863T>A (p.Leu288His) SNV Pathogenic 217906 rs863225306 GRCh37: 20:44669976-44669976
GRCh38: 20:46041337-46041337
5 SLC12A5 NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) SNV Pathogenic 217904 rs863225304 GRCh37: 20:44671933-44671933
GRCh38: 20:46043294-46043294
6 KCNT1 NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) SNV Pathogenic 412308 rs1060503696 GRCh37: 9:138670626-138670626
GRCh38: 9:135778780-135778780
7 KCNT1 NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) SNV Pathogenic 473378 rs886043455 GRCh37: 9:138675877-138675877
GRCh38: 9:135784031-135784031
8 SLC12A5 NM_020708.5(SLC12A5):c.980dup (p.Asn328fs) Duplication Pathogenic 475662 rs1555863593 GRCh37: 20:44670092-44670093
GRCh38: 20:46041453-46041454
9 SLC12A5 NM_020708.5(SLC12A5):c.706_707TG[2] (p.Val237fs) Microsatellite Pathogenic 542316 rs1555863145 GRCh37: 20:44669105-44669106
GRCh38: 20:46040466-46040467
10 SLC12A5 NM_020708.5(SLC12A5):c.279+1G>C SNV Pathogenic 623492 rs1568858867 GRCh37: 20:44664175-44664175
GRCh38: 20:46035536-46035536
11 SLC12A5 NM_020708.5(SLC12A5):c.572C>T (p.Ala191Val) SNV Pathogenic 623493 rs1568859798 GRCh37: 20:44665984-44665984
GRCh38: 20:46037345-46037345
12 SLC12A5 NM_020708.5(SLC12A5):c.953G>C (p.Trp318Ser) SNV Pathogenic 623494 rs1259210706 GRCh37: 20:44670066-44670066
GRCh38: 20:46041427-46041427
13 SLC12A5 NM_020708.5(SLC12A5):c.967T>C (p.Ser323Pro) SNV Pathogenic 623495 rs1220094830 GRCh37: 20:44670080-44670080
GRCh38: 20:46041441-46041441
14 SLC12A5 NM_020708.5(SLC12A5):c.1127C>T (p.Ser376Leu) SNV Pathogenic 623496 rs1568862550 GRCh37: 20:44671852-44671852
GRCh38: 20:46043213-46043213
15 SLC12A5 NM_020708.5(SLC12A5):c.1243A>G (p.Met415Val) SNV Pathogenic 623497 rs368484023 GRCh37: 20:44672277-44672277
GRCh38: 20:46043638-46043638
16 SLC12A5 NM_020708.5(SLC12A5):c.2239_2241TCC[1] (p.Ser748del) Microsatellite Pathogenic 623498 rs1568866916 GRCh37: 20:44680370-44680372
GRCh38: 20:46051731-46051733
17 SLC12A5 NM_020708.5(SLC12A5):c.2570G>T (p.Arg857Leu) SNV Pathogenic 623499 rs750336750 GRCh37: 20:44682239-44682239
GRCh38: 20:46053600-46053600
18 KCNT1 NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) SNV Pathogenic 655949 rs1588385233 GRCh37: 9:138670656-138670656
GRCh38: 9:135778810-135778810
19 SLC12A5 NM_020708.5(SLC12A5):c.115G>T (p.Glu39Ter) SNV Pathogenic 659657 rs1600590580 GRCh37: 20:44663649-44663649
GRCh38: 20:46035010-46035010
20 SLC12A5 and overlap with 1 gene(s) NC_000020.11:g.(?_46021746)_(46057625_?)del Deletion Pathogenic 833121 GRCh37: 20:44650385-44686264
GRCh38:
21 SLC12A5 NC_000020.11:g.(?_46045858)_(46046456_?)del Deletion Pathogenic 833486 GRCh37: 20:44674497-44675095
GRCh38:
22 SLC12A5 NM_020708.5(SLC12A5):c.2250dup (p.Arg751fs) Duplication Pathogenic 848475 GRCh37: 20:44680381-44680382
GRCh38: 20:46051742-46051743
23 KCNT1 NM_020822.3(KCNT1):c.2943+1G>C SNV Pathogenic 853172 GRCh37: 9:138675972-138675972
GRCh38: 9:135784126-135784126
24 KCNT1 NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu) SNV Pathogenic 853550 GRCh37: 9:138656879-138656879
GRCh38: 9:135765033-135765033
25 SLC12A5 NM_020708.5(SLC12A5):c.266del (p.Lys89fs) Deletion Pathogenic 856637 GRCh37: 20:44664156-44664156
GRCh38: 20:46035517-46035517
26 SLC12A5 NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter) SNV Pathogenic 934757 GRCh37: 20:44658007-44658007
GRCh38: 20:46029368-46029368
27 SLC12A5 NM_020708.5(SLC12A5):c.42dup (p.Ala15fs) Duplication Pathogenic 938667 GRCh37: 20:44658024-44658025
GRCh38: 20:46029385-46029386
28 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 GRCh37: 9:138651532-138651532
GRCh38: 9:135759686-135759686
29 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 GRCh37: 9:138651532-138651532
GRCh38: 9:135759686-135759686
30 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) SNV Pathogenic 286710 GRCh37: 9:138675877-138675877
GRCh38: 9:135784031-135784031
31 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) SNV Pathogenic 286710 GRCh37: 9:138675877-138675877
GRCh38: 9:135784031-135784031
32 KCNT1 NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) SNV Pathogenic 265210 rs866242631 GRCh37: 9:138660693-138660693
GRCh38: 9:135768847-135768847
33 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) SNV Pathogenic 39594 rs397515403 GRCh37: 9:138671275-138671275
GRCh38: 9:135779429-135779429
34 KCNT1 NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) SNV Pathogenic 39596 rs370521183 GRCh37: 9:138667192-138667192
GRCh38: 9:135775346-135775346
35 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) SNV Pathogenic 39595 GRCh37: 9:138660694-138660694
GRCh38: 9:135768848-135768848
36 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) SNV Pathogenic 39594 rs397515403 GRCh37: 9:138671275-138671275
GRCh38: 9:135779429-135779429
37 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 GRCh37: 9:138657552-138657552
GRCh38: 9:135765706-135765706
38 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 GRCh37: 9:138657552-138657552
GRCh38: 9:135765706-135765706
39 KCNT1 NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) SNV Pathogenic 432096 rs1554771469 GRCh37: 9:138650285-138650285
GRCh38: 9:135758439-135758439
40 SCN2A NM_001040142.2(SCN2A):c.3967A>G (p.Met1323Val) SNV Pathogenic 375505 rs1057519523 GRCh37: 2:166229852-166229852
GRCh38: 2:165373342-165373342
41 KCNT1 NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) SNV Pathogenic 280499 rs886041691 GRCh37: 9:138661828-138661828
GRCh38: 9:135769982-135769982
42 KCNT1 NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) SNV Pathogenic 575241 GRCh37: 9:138675924-138675924
GRCh38: 9:135784078-135784078
43 TBC1D24 NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) SNV Pathogenic 56846 rs397514713 GRCh37: 16:2546835-2546835
GRCh38: 16:2496834-2496834
44 TBC1D24 NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) SNV Pathogenic 56847 rs397514714 GRCh37: 16:2546617-2546617
GRCh38: 16:2496616-2496616
45 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) SNV Pathogenic 39599 rs397515407 GRCh37: 9:138657034-138657034
GRCh38: 9:135765188-135765188
46 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) SNV Pathogenic 39599 rs397515407 GRCh37: 9:138657034-138657034
GRCh38: 9:135765188-135765188
47 KCNT1 NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) SNV Pathogenic 39598 rs397515406 GRCh37: 9:138669220-138669220
GRCh38: 9:135777374-135777374
48 KCNT1 NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) SNV Pathogenic 39597 rs397515405 GRCh37: 9:138671257-138671257
GRCh38: 9:135779411-135779411
49 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) SNV Pathogenic/Likely pathogenic 39595 GRCh37: 9:138660694-138660694
GRCh38: 9:135768848-135768848
50 KCNT1 NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp) SNV Likely pathogenic 937909 GRCh37: 9:138594177-138594177
GRCh38: 9:135702331-135702331
51 KCNT1 NM_020822.3(KCNT1):c.1885A>C (p.Lys629Gln) SNV Likely pathogenic 870208 GRCh37: 9:138662818-138662818
GRCh38: 9:135770972-135770972
52 KCNT1 NM_020822.3(KCNT1):c.1016T>G (p.Leu339Arg) SNV Likely pathogenic 929407 GRCh37: 9:138651686-138651686
GRCh38: 9:135759840-135759840
53 KCNT1 NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu) SNV Likely pathogenic 948652 GRCh37: 9:138656879-138656879
GRCh38: 9:135765033-135765033
54 SLC12A5 NM_020708.5(SLC12A5):c.53-2A>G SNV Likely pathogenic 857040 GRCh37: 20:44663585-44663585
GRCh38: 20:46034946-46034946
55 KCNT1 NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) SNV Likely pathogenic 662662 rs1588344733 GRCh37: 9:138657494-138657494
GRCh38: 9:135765648-135765648
56 KCNT1 NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) SNV Likely pathogenic 802536 rs1193627908 GRCh37: 9:138678203-138678203
GRCh38: 9:135786357-135786357
57 KCNT1 NM_020822.3(KCNT1):c.2686A>G (p.Met896Val) SNV Likely pathogenic 813753 GRCh37: 9:138670625-138670625
GRCh38: 9:135778779-135778779
58 KCNT1 NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val) SNV Likely pathogenic 813756 GRCh37: 9:138667253-138667253
GRCh38: 9:135775407-135775407
59 KCNT1 NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val) SNV Likely pathogenic 813759 GRCh37: 9:138670617-138670617
GRCh38: 9:135778771-135778771
60 LOC113960611 , SLC12A5 NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys) SNV Likely pathogenic 495251 rs1555868402 GRCh37: 20:44686167-44686167
GRCh38: 20:46057528-46057528
61 KCNT1 NM_020822.3(KCNT1):c.1406A>T (p.His469Leu) SNV Likely pathogenic 496671 rs1554774322 GRCh37: 9:138660679-138660679
GRCh38: 9:135768833-135768833
62 TBC1D24 NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) SNV Likely pathogenic 91395 rs398122965 GRCh37: 16:2546873-2546873
GRCh38: 16:2496872-2496872
63 KCNT1 NM_020822.3(KCNT1):c.2839A>G (p.Lys947Glu) SNV Likely pathogenic 375526 rs1057519544 GRCh37: 9:138671314-138671314
GRCh38: 9:135779468-135779468
64 KCNT1 NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) SNV Likely pathogenic 129360 rs200694691 GRCh37: 9:138675910-138675910
GRCh38: 9:135784064-135784064
65 KCNT1 NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) SNV Likely pathogenic 280499 rs886041691 GRCh37: 9:138661828-138661828
GRCh38: 9:135769982-135769982
66 TBC1D24 NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) SNV Likely pathogenic 242486 rs863224932 GRCh37: 16:2549917-2549917
GRCh38: 16:2499916-2499916
67 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Likely pathogenic 207499 rs376712059 GRCh37: 16:2546606-2546606
GRCh38: 16:2496605-2496605
68 SLC12A5 NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) SNV Conflicting interpretations of pathogenicity 475651 rs201268862 GRCh37: 20:44681670-44681670
GRCh38: 20:46053031-46053031
69 SLC12A5 NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) SNV Conflicting interpretations of pathogenicity 640112 rs114371269 GRCh37: 20:44670000-44670000
GRCh38: 20:46041361-46041361
70 KCNT1 NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) SNV Conflicting interpretations of pathogenicity 193922 rs146070496 GRCh37: 9:138651559-138651559
GRCh38: 9:135759713-135759713
71 KCNT1 NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) SNV Conflicting interpretations of pathogenicity 389450 rs752514808 GRCh37: 9:138656907-138656907
GRCh38: 9:135765061-135765061
72 KCNT1 NM_020822.3(KCNT1):c.2595-9C>T SNV Conflicting interpretations of pathogenicity 385486 rs369966222 GRCh37: 9:138670525-138670525
GRCh38: 9:135778679-135778679
73 SLC12A5 NM_020708.5(SLC12A5):c.2191C>T (p.Arg731Cys) SNV Uncertain significance 936293 GRCh37: 20:44680323-44680323
GRCh38: 20:46051684-46051684
74 SLC12A5 NM_020708.5(SLC12A5):c.684C>A (p.Asn228Lys) SNV Uncertain significance 939476 GRCh37: 20:44669083-44669083
GRCh38: 20:46040444-46040444
75 KCNT1 NM_020822.3(KCNT1):c.3640C>T (p.Arg1214Trp) SNV Uncertain significance 940426 GRCh37: 9:138683939-138683939
GRCh38: 9:135792093-135792093
76 SLC12A5 NM_020708.5(SLC12A5):c.2300A>G (p.Gln767Arg) SNV Uncertain significance 943197 GRCh37: 20:44680432-44680432
GRCh38: 20:46051793-46051793
77 KCNT1 NM_020822.3(KCNT1):c.400G>T (p.Val134Phe) SNV Uncertain significance 944093 GRCh37: 9:138642853-138642853
GRCh38: 9:135751007-135751007
78 SLC12A5 NM_020708.5(SLC12A5):c.3083G>A (p.Gly1028Asp) SNV Uncertain significance 946716 GRCh37: 20:44685176-44685176
GRCh38: 20:46056537-46056537
79 KCNT1 NM_020822.3(KCNT1):c.3606C>A (p.Asp1202Glu) SNV Uncertain significance 946733 GRCh37: 9:138683905-138683905
GRCh38: 9:135792059-135792059
80 SLC12A5 NM_020708.5(SLC12A5):c.2541C>A (p.His847Gln) SNV Uncertain significance 947432 GRCh37: 20:44681759-44681759
GRCh38: 20:46053120-46053120
81 KCNT1 NM_020822.3(KCNT1):c.3651C>G (p.Ser1217Arg) SNV Uncertain significance 947475 GRCh37: 9:138683950-138683950
GRCh38: 9:135792104-135792104
82 KCNT1 NM_020822.3(KCNT1):c.3410G>A (p.Arg1137His) SNV Uncertain significance 948006 GRCh37: 9:138678275-138678275
GRCh38: 9:135786429-135786429
83 KCNT1 NM_020822.3(KCNT1):c.2899G>A (p.Gly967Ser) SNV Uncertain significance 948617 GRCh37: 9:138675927-138675927
GRCh38: 9:135784081-135784081
84 SLC12A5 NM_020708.5(SLC12A5):c.116A>T (p.Glu39Val) SNV Uncertain significance 949577 GRCh37: 20:44663650-44663650
GRCh38: 20:46035011-46035011
85 SLC12A5 NM_020708.5(SLC12A5):c.242C>T (p.Ala81Val) SNV Uncertain significance 953082 GRCh37: 20:44664137-44664137
GRCh38: 20:46035498-46035498
86 KCNT1 NM_020822.3(KCNT1):c.972C>G (p.Ile324Met) SNV Uncertain significance 930626 GRCh37: 9:138651642-138651642
GRCh38: 9:135759796-135759796
87 SLC12A5 NM_020708.5(SLC12A5):c.2942G>A (p.Ser981Asn) SNV Uncertain significance 958072 GRCh37: 20:44685035-44685035
GRCh38: 20:46056396-46056396
88 KCNT1 NM_020822.3(KCNT1):c.3241T>C (p.Ser1081Pro) SNV Uncertain significance 960921 GRCh37: 9:138678106-138678106
GRCh38: 9:135786260-135786260
89 KCNT1 NM_020822.3(KCNT1):c.481G>A (p.Glu161Lys) SNV Uncertain significance 962383 GRCh37: 9:138645829-138645829
GRCh38: 9:135753983-135753983
90 KCNT1 NM_020822.3(KCNT1):c.1766A>G (p.Lys589Arg) SNV Uncertain significance 963678 GRCh37: 9:138662290-138662290
GRCh38: 9:135770444-135770444
91 SLC12A5 NM_020708.5(SLC12A5):c.428C>T (p.Thr143Met) SNV Uncertain significance 963985 GRCh37: 20:44665381-44665381
GRCh38: 20:46036742-46036742
92 KCNT1 NM_020822.3(KCNT1):c.3163G>A (p.Asp1055Asn) SNV Uncertain significance 412313 rs537379253 GRCh37: 9:138677162-138677162
GRCh38: 9:135785316-135785316
93 KCNT1 NM_020822.3(KCNT1):c.50C>T (p.Ala17Val) SNV Uncertain significance 412316 rs377687237 GRCh37: 9:138594154-138594154
GRCh38: 9:135702308-135702308
94 KCNT1 NM_020822.3(KCNT1):c.47A>T (p.Glu16Val) SNV Uncertain significance 412307 rs755980218 GRCh37: 9:138594151-138594151
GRCh38: 9:135702305-135702305
95 SLC12A5 NM_020708.5(SLC12A5):c.3110+4C>T SNV Uncertain significance 475654 rs781152138 GRCh37: 20:44685207-44685207
GRCh38: 20:46056568-46056568
96 KCNT1 NM_020822.3(KCNT1):c.1139C>T (p.Ser380Phe) SNV Uncertain significance 473355 rs765193021 GRCh37: 9:138656980-138656980
GRCh38: 9:135765134-135765134
97 KCNT1 NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) SNV Uncertain significance 447646 rs1188425438 GRCh37: 9:138664597-138664597
GRCh38: 9:135772751-135772751
98 KCNT1 NM_020822.3(KCNT1):c.928G>A (p.Val310Ile) SNV Uncertain significance 288781 rs149436191 GRCh37: 9:138651598-138651598
GRCh38: 9:135759752-135759752
99 KCNT1 NM_020822.3(KCNT1):c.38T>C (p.Val13Ala) SNV Uncertain significance 540575 rs764111643 GRCh37: 9:138594142-138594142
GRCh38: 9:135702296-135702296
100 KCNT1 NM_020822.3(KCNT1):c.3634C>A (p.Gln1212Lys) SNV Uncertain significance 540577 rs1554782444 GRCh37: 9:138683933-138683933
GRCh38: 9:135792087-135792087
101 SLC12A5 NM_020708.5(SLC12A5):c.1099G>A (p.Val367Met) SNV Uncertain significance 542317 rs778801242 GRCh37: 20:44671824-44671824
GRCh38: 20:46043185-46043185
102 KCNT1 NM_020822.3(KCNT1):c.600+5G>A SNV Uncertain significance 565606 rs770367654 GRCh37: 9:138648783-138648783
GRCh38: 9:135756937-135756937
103 SLC12A5 NM_020708.5(SLC12A5):c.340G>A (p.Val114Ile) SNV Uncertain significance 566203 rs760750912 GRCh37: 20:44664476-44664476
GRCh38: 20:46035837-46035837
104 SLC12A5 NM_020708.5(SLC12A5):c.3156G>A (p.Thr1052=) SNV Uncertain significance 574030 rs200558731 GRCh37: 20:44685839-44685839
GRCh38: 20:46057200-46057200
105 KCNT1 NM_020822.3(KCNT1):c.2950G>A (p.Val984Met) SNV Uncertain significance 641347 rs1465054757 GRCh37: 9:138676387-138676387
GRCh38: 9:135784541-135784541
106 KCNT1 NM_020822.3(KCNT1):c.1652G>A (p.Arg551His) SNV Uncertain significance 646949 rs567764094 GRCh37: 9:138662176-138662176
GRCh38: 9:135770330-135770330
107 KCNT1 NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) SNV Uncertain significance 390178 rs774588571 GRCh37: 9:138661894-138661894
GRCh38: 9:135770048-135770048
108 KCNT1 NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr) SNV Uncertain significance 660067 rs1588343193 GRCh37: 9:138657027-138657027
GRCh38: 9:135765181-135765181
109 SLC12A5 NM_020708.5(SLC12A5):c.937G>T (p.Val313Leu) SNV Uncertain significance 663773 rs138569099 GRCh37: 20:44670050-44670050
GRCh38: 20:46041411-46041411
110 SLC12A5 NM_020708.5(SLC12A5):c.53-3C>T SNV Uncertain significance 663973 rs367992610 GRCh37: 20:44663584-44663584
GRCh38: 20:46034945-46034945
111 SLC12A5 NM_020708.5(SLC12A5):c.808A>G (p.Ile270Val) SNV Uncertain significance 834560 GRCh37: 20:44669207-44669207
GRCh38: 20:46040568-46040568
112 KCNT1 NM_020822.3(KCNT1):c.16G>C (p.Gly6Arg) SNV Uncertain significance 842108 GRCh37: 9:138594120-138594120
GRCh38: 9:135702274-135702274
113 SLC12A5 NM_020708.5(SLC12A5):c.3242G>T (p.Arg1081Leu) SNV Uncertain significance 842453 GRCh37: 20:44685925-44685925
GRCh38: 20:46057286-46057286
114 SLC12A5 NM_020708.5(SLC12A5):c.3163C>A (p.Arg1055=) SNV Uncertain significance 846668 GRCh37: 20:44685846-44685846
GRCh38: 20:46057207-46057207
115 KCNT1 NM_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala) SNV Uncertain significance 848626 GRCh37: 9:138678358-138678358
GRCh38: 9:135786512-135786512
116 SLC12A5 NM_020708.5(SLC12A5):c.900T>G (p.Asp300Glu) SNV Uncertain significance 850143 GRCh37: 20:44670013-44670013
GRCh38: 20:46041374-46041374
117 KCNT1 NM_020822.3(KCNT1):c.2426C>T (p.Thr809Met) SNV Uncertain significance 851307 GRCh37: 9:138669260-138669260
GRCh38: 9:135777414-135777414
118 SLC12A5 NM_020708.5(SLC12A5):c.2876C>T (p.Thr959Met) SNV Uncertain significance 852365 GRCh37: 20:44684877-44684877
GRCh38: 20:46056238-46056238
119 KCNT1 NM_020822.3(KCNT1):c.3496G>A (p.Gly1166Ser) SNV Uncertain significance 853887 GRCh37: 9:138678361-138678361
GRCh38: 9:135786515-135786515
120 KCNT1 NM_020822.3(KCNT1):c.2378C>T (p.Ala793Val) SNV Uncertain significance 856705 GRCh37: 9:138669212-138669212
GRCh38: 9:135777366-135777366
121 SLC12A5 NM_020708.5(SLC12A5):c.1961G>A (p.Arg654His) SNV Uncertain significance 859732 GRCh37: 20:44676673-44676673
GRCh38: 20:46048034-46048034
122 SLC12A5 NM_020708.5(SLC12A5):c.3033C>G (p.Asp1011Glu) SNV Uncertain significance 863592 GRCh37: 20:44685126-44685126
GRCh38: 20:46056487-46056487
123 KCNT1 NM_020822.3(KCNT1):c.143A>T (p.Asp48Val) SNV Uncertain significance 863745 GRCh37: 9:138606455-138606455
GRCh38: 9:135714609-135714609
124 SLC12A5 NM_020708.5(SLC12A5):c.3028A>G (p.Lys1010Glu) SNV Uncertain significance 863852 GRCh37: 20:44685121-44685121
GRCh38: 20:46056482-46056482
125 TBC1D24 NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) SNV Uncertain significance 207484 rs200926225 GRCh37: 16:2546642-2546642
GRCh38: 16:2496641-2496641
126 SLC12A5 NM_020708.5(SLC12A5):c.692G>A (p.Arg231His) SNV Uncertain significance 452646 rs1555863134 GRCh37: 20:44669091-44669091
GRCh38: 20:46040452-46040452
127 KCNT1 NM_020822.3(KCNT1):c.417G>A (p.Pro139=) SNV Uncertain significance 386987 rs542441332 GRCh37: 9:138642870-138642870
GRCh38: 9:135751024-135751024
128 KCNT1 NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) SNV Uncertain significance 390175 rs752729337 GRCh37: 9:138683931-138683931
GRCh38: 9:135792085-135792085
129 KCNT1 NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) SNV Uncertain significance 373294 rs758152252 GRCh37: 9:138656908-138656908
GRCh38: 9:135765062-135765062
130 KCNT1 NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu) SNV Uncertain significance 452438 rs377750450 GRCh37: 9:138662831-138662831
GRCh38: 9:135770985-135770985
131 KCNT1 NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) SNV Uncertain significance 648535 rs776232246 GRCh37: 9:138678109-138678109
GRCh38: 9:135786263-135786263
132 overlap with 17 genes NC_000009.11:g.(?_138594085)_(139440258_?)dup Duplication Uncertain significance 660707 GRCh37: 9:138594085-139440258
GRCh38:
133 KCNT1 NM_020822.3(KCNT1):c.1510+4C>T SNV Uncertain significance 211240 rs554828530 GRCh37: 9:138660787-138660787
GRCh38: 9:135768941-135768941
134 KCNT1 NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn) SNV Uncertain significance 582542 rs752598622 GRCh37: 9:138664740-138664740
GRCh38: 9:135772894-135772894
135 KCNT1 NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) SNV Uncertain significance 540572 rs779262121 GRCh37: 9:138683978-138683978
GRCh38: 9:135792132-135792132
136 KCNT1 NM_020822.3(KCNT1):c.1619A>G (p.Gln540Arg) SNV Uncertain significance 998535 GRCh37: 9:138661901-138661901
GRCh38: 9:135770055-135770055
137 KCNT1 NM_020822.3(KCNT1):c.2828C>T (p.Ser943Phe) SNV Uncertain significance 998711 GRCh37: 9:138671303-138671303
GRCh38: 9:135779457-135779457
138 KCNT1 NM_020822.3(KCNT1):c.3188C>T (p.Ser1063Leu) SNV Uncertain significance 998861 GRCh37: 9:138678053-138678053
GRCh38: 9:135786207-135786207
139 KCNT1 NM_020822.3(KCNT1):c.3152C>A (p.Ser1051Ter) SNV Uncertain significance 999184 GRCh37: 9:138676731-138676731
GRCh38: 9:135784885-135784885
140 KCNT1 NM_020822.3(KCNT1):c.1230G>A (p.Thr410=) SNV Uncertain significance 999252 GRCh37: 9:138657499-138657499
GRCh38: 9:135765653-135765653
141 KCNT1 NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp) SNV Uncertain significance 999362 GRCh37: 9:138641987-138641987
GRCh38: 9:135750141-135750141
142 KCNT1 NM_020822.3(KCNT1):c.550G>T (p.Ala184Ser) SNV Uncertain significance 999711 GRCh37: 9:138648728-138648728
GRCh38: 9:135756882-135756882
143 KCNT1 NM_020822.3(KCNT1):c.1619+19G>A SNV Uncertain significance 999796 GRCh37: 9:138661920-138661920
GRCh38: 9:135770074-135770074
144 KCNT1 NM_020822.3(KCNT1):c.1136G>A (p.Ser379Asn) SNV Uncertain significance 999973 GRCh37: 9:138656977-138656977
GRCh38: 9:135765131-135765131
145 KCNT1 NM_020822.3(KCNT1):c.272A>G (p.Tyr91Cys) SNV Uncertain significance 1000213 GRCh37: 9:138641961-138641961
GRCh38: 9:135750115-135750115
146 KCNT1 NM_020822.3(KCNT1):c.1955G>A (p.Gly652Glu) SNV Uncertain significance 1000542 GRCh37: 9:138662888-138662888
GRCh38: 9:135771042-135771042
147 KCNT1 NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys) SNV Uncertain significance 1001305 GRCh37: 9:138662896-138662896
GRCh38: 9:135771050-135771050
148 KCNT1 NM_020822.3(KCNT1):c.797C>T (p.Ala266Val) SNV Uncertain significance 1001533 GRCh37: 9:138650297-138650297
GRCh38: 9:135758451-135758451
149 SLC12A5 NM_020708.5(SLC12A5):c.2910+3G>A SNV Uncertain significance 1001553 GRCh37: 20:44684914-44684914
GRCh38: 20:46056275-46056275
150 SLC12A5 NM_020708.5(SLC12A5):c.2338C>T (p.Arg780Cys) SNV Uncertain significance 1001648 GRCh37: 20:44680470-44680470
GRCh38: 20:46051831-46051831
151 SLC12A5 NM_020708.5(SLC12A5):c.1301G>A (p.Gly434Asp) SNV Uncertain significance 1001827 GRCh37: 20:44672335-44672335
GRCh38: 20:46043696-46043696
152 KCNT1 NM_020822.3(KCNT1):c.1621G>A (p.Glu541Lys) SNV Uncertain significance 1002108 GRCh37: 9:138662145-138662145
GRCh38: 9:135770299-135770299
153 KCNT1 NM_020822.3(KCNT1):c.1954G>A (p.Gly652Arg) SNV Uncertain significance 1002143 GRCh37: 9:138662887-138662887
GRCh38: 9:135771041-135771041
154 KCNT1 NM_020822.3(KCNT1):c.3574C>T (p.Pro1192Ser) SNV Uncertain significance 1002217 GRCh37: 9:138683714-138683714
GRCh38: 9:135791868-135791868
155 SLC12A5 NM_020708.5(SLC12A5):c.64C>A (p.Pro22Thr) SNV Uncertain significance 1003231 GRCh37: 20:44663598-44663598
GRCh38: 20:46034959-46034959
156 SLC12A5 NM_020708.5(SLC12A5):c.3001C>T (p.Pro1001Ser) SNV Uncertain significance 1003386 GRCh37: 20:44685094-44685094
GRCh38: 20:46056455-46056455
157 KCNT1 NM_020822.3(KCNT1):c.3284G>A (p.Gly1095Asp) SNV Uncertain significance 1004073 GRCh37: 9:138678149-138678149
GRCh38: 9:135786303-135786303
158 KCNT1 NM_020822.3(KCNT1):c.1534T>C (p.Cys512Arg) SNV Uncertain significance 1004222 GRCh37: 9:138661816-138661816
GRCh38: 9:135769970-135769970
159 SLC12A5 NM_020708.5(SLC12A5):c.2387G>A (p.Arg796Gln) SNV Uncertain significance 1004437 GRCh37: 20:44681605-44681605
GRCh38: 20:46052966-46052966
160 SLC12A5 NM_020708.5(SLC12A5):c.2911-3C>T SNV Uncertain significance 1004946 GRCh37: 20:44685001-44685001
GRCh38: 20:46056362-46056362
161 SLC12A5 NM_020708.5(SLC12A5):c.3200C>G (p.Ala1067Gly) SNV Uncertain significance 1005305 GRCh37: 20:44685883-44685883
GRCh38: 20:46057244-46057244
162 SLC12A5 NM_020708.5(SLC12A5):c.3105G>T (p.Met1035Ile) SNV Uncertain significance 1005347 GRCh37: 20:44685198-44685198
GRCh38: 20:46056559-46056559
163 KCNT1 NM_020822.3(KCNT1):c.1697T>C (p.Met566Thr) SNV Uncertain significance 1005988 GRCh37: 9:138662221-138662221
GRCh38: 9:135770375-135770375
164 SLC12A5 NM_020708.5(SLC12A5):c.893G>T (p.Gly298Val) SNV Uncertain significance 1006000 GRCh37: 20:44670006-44670006
GRCh38: 20:46041367-46041367
165 KCNT1 NM_020822.3(KCNT1):c.2389G>A (p.Gly797Arg) SNV Uncertain significance 1006187 GRCh37: 9:138669223-138669223
GRCh38: 9:135777377-135777377
166 KCNT1 NM_020822.3(KCNT1):c.2176G>A (p.Asp726Asn) SNV Uncertain significance 589941 rs1367605908 GRCh37: 9:138664728-138664728
GRCh38: 9:135772882-135772882
167 KCNT1 NM_020822.3(KCNT1):c.2517CAA[1] (p.Asn840del) Microsatellite Uncertain significance 1006461 GRCh37: 9:138669350-138669352
GRCh38: 9:135777504-135777506
168 KCNT1 NM_020822.3(KCNT1):c.3132G>C (p.Glu1044Asp) SNV Uncertain significance 1006534 GRCh37: 9:138676711-138676711
GRCh38: 9:135784865-135784865
169 KCNT1 NM_020822.3(KCNT1):c.2968A>G (p.Thr990Ala) SNV Uncertain significance 1006843 GRCh37: 9:138676405-138676405
GRCh38: 9:135784559-135784559
170 KCNT1 NM_020822.3(KCNT1):c.547G>A (p.Val183Met) SNV Uncertain significance 1007885 GRCh37: 9:138648725-138648725
GRCh38: 9:135756879-135756879
171 SLC12A5 NM_020708.5(SLC12A5):c.2806G>A (p.Glu936Lys) SNV Uncertain significance 1008133 GRCh37: 20:44684807-44684807
GRCh38: 20:46056168-46056168
172 KCNT1 NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val) SNV Uncertain significance 1008161 GRCh37: 9:138662786-138662786
GRCh38: 9:135770940-135770940
173 overlap with 51 genes NC_000009.11:g.(?_138594085)_(140062314_?)dup Duplication Uncertain significance 1008189 GRCh37: 9:138594085-140062314
GRCh38:
174 KCNT1 NM_020822.3(KCNT1):c.1946C>G (p.Ser649Trp) SNV Uncertain significance 1008322 GRCh37: 9:138662879-138662879
GRCh38: 9:135771033-135771033
175 KCNT1 NM_020822.3(KCNT1):c.2095A>G (p.Thr699Ala) SNV Uncertain significance 1008506 GRCh37: 9:138664647-138664647
GRCh38: 9:135772801-135772801
176 SLC12A5 NM_020708.5(SLC12A5):c.108G>C (p.Lys36Asn) SNV Uncertain significance 1010694 GRCh37: 20:44663642-44663642
GRCh38: 20:46035003-46035003
177 SLC12A5 NM_020708.5(SLC12A5):c.2554C>T (p.Arg852Trp) SNV Uncertain significance 1010802 GRCh37: 20:44682223-44682223
GRCh38: 20:46053584-46053584
178 KCNT1 NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val) Indel Uncertain significance 1010946 GRCh37: 9:138678325-138678326
GRCh38: 9:135786479-135786480
179 KCNT1 NM_020822.3(KCNT1):c.1867T>C (p.Phe623Leu) SNV Uncertain significance 1010995 GRCh37: 9:138662800-138662800
GRCh38: 9:135770954-135770954
180 KCNT1 NM_020822.3(KCNT1):c.2213C>T (p.Pro738Leu) SNV Uncertain significance 1011542 GRCh37: 9:138664765-138664765
GRCh38: 9:135772919-135772919
181 SLC12A5 NM_020708.5(SLC12A5):c.1921T>C (p.Trp641Arg) SNV Uncertain significance 1011737 GRCh37: 20:44676633-44676633
GRCh38: 20:46047994-46047994
182 SLC12A5 NM_020708.5(SLC12A5):c.2185A>T (p.Ile729Phe) SNV Uncertain significance 1012035 GRCh37: 20:44680317-44680317
GRCh38: 20:46051678-46051678
183 SLC12A5 NM_020708.5(SLC12A5):c.1523G>A (p.Arg508His) SNV Uncertain significance 933510 GRCh37: 20:44673733-44673733
GRCh38: 20:46045094-46045094
184 SLC12A5 NM_020708.5(SLC12A5):c.2092C>A (p.Leu698Met) SNV Uncertain significance 934087 GRCh37: 20:44678340-44678340
GRCh38: 20:46049701-46049701
185 KCNT1 NM_020822.3(KCNT1):c.274G>A (p.Val92Ile) SNV Uncertain significance 804967 rs776233220 GRCh37: 9:138641963-138641963
GRCh38: 9:135750117-135750117
186 SLC12A5 NM_020708.5(SLC12A5):c.2259C>T (p.Gly753=) SNV Uncertain significance 935959 GRCh37: 20:44680391-44680391
GRCh38: 20:46051752-46051752
187 KCNT1 NM_020822.3(KCNT1):c.2291C>T (p.Pro764Leu) SNV Uncertain significance 937096 GRCh37: 9:138667203-138667203
GRCh38: 9:135775357-135775357
188 KCNT1 NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe) SNV Uncertain significance 937205 GRCh37: 9:138662716-138662716
GRCh38: 9:135770870-135770870
189 KCNT1 NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe) SNV Uncertain significance 422110 rs376231681 GRCh37: 9:138662929-138662929
GRCh38: 9:135771083-135771083
190 SLC12A5 NM_020708.5(SLC12A5):c.1570-3C>G SNV Uncertain significance 941338 GRCh37: 20:44674514-44674514
GRCh38: 20:46045875-46045875
191 KCNT1 NM_020822.3(KCNT1):c.1912A>G (p.Lys638Glu) SNV Uncertain significance 942347 GRCh37: 9:138662845-138662845
GRCh38: 9:135770999-135770999
192 KCNT1 NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) SNV Uncertain significance 501376 rs147654995 GRCh37: 9:138683715-138683715
GRCh38: 9:135791869-135791869
193 KCNT1 NM_020822.3(KCNT1):c.2230C>T (p.Leu744Phe) SNV Uncertain significance 944912 GRCh37: 9:138664782-138664782
GRCh38: 9:135772936-135772936
194 SLC12A5 NM_020708.5(SLC12A5):c.2925C>A (p.His975Gln) SNV Uncertain significance 946541 GRCh37: 20:44685018-44685018
GRCh38: 20:46056379-46056379
195 SLC12A5 NM_020708.5(SLC12A5):c.974G>A (p.Arg325His) SNV Uncertain significance 947288 GRCh37: 20:44670087-44670087
GRCh38: 20:46041448-46041448
196 KCNT1 NM_020822.3(KCNT1):c.346C>T (p.Arg116Trp) SNV Uncertain significance 948351 GRCh37: 9:138642799-138642799
GRCh38: 9:135750953-135750953
197 KCNT1 NM_020822.3(KCNT1):c.2600A>G (p.Asp867Gly) SNV Uncertain significance 949489 GRCh37: 9:138670539-138670539
GRCh38: 9:135778693-135778693
198 KCNT1 NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) SNV Uncertain significance 500199 rs557219607 GRCh37: 9:138662241-138662241
GRCh38: 9:135770395-135770395
199 KCNT1 NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser) SNV Uncertain significance 949580 GRCh37: 9:138660464-138660464
GRCh38: 9:135768618-135768618
200 KCNT1 NM_020822.3(KCNT1):c.2955G>C (p.Lys985Asn) SNV Uncertain significance 949752 GRCh37: 9:138676392-138676392
GRCh38: 9:135784546-135784546
201 KCNT1 NM_020822.3(KCNT1):c.2876T>C (p.Met959Thr) SNV Uncertain significance 447647 rs1318262895 GRCh37: 9:138675904-138675904
GRCh38: 9:135784058-135784058
202 SLC12A5 NM_020708.5(SLC12A5):c.377T>C (p.Ile126Thr) SNV Uncertain significance 951876 GRCh37: 20:44664513-44664513
GRCh38: 20:46035874-46035874
203 SLC12A5 NM_020708.5(SLC12A5):c.147G>A (p.Glu49=) SNV Uncertain significance 953187 GRCh37: 20:44663681-44663681
GRCh38: 20:46035042-46035042
204 KCNT1 NM_020822.3(KCNT1):c.1833del (p.Arg613fs) Deletion Uncertain significance 953236 GRCh37: 9:138662763-138662763
GRCh38: 9:135770917-135770917
205 KCNT1 NM_020822.3(KCNT1):c.2206_2211del (p.Val736_Thr737del) Deletion Uncertain significance 953691 GRCh37: 9:138664757-138664762
GRCh38: 9:135772911-135772916
206 KCNT1 NM_020822.3(KCNT1):c.1396G>A (p.Ala466Thr) SNV Uncertain significance 960403 GRCh37: 9:138660514-138660514
GRCh38: 9:135768668-135768668
207 SLC12A5 NM_020708.5(SLC12A5):c.613G>A (p.Ala205Thr) SNV Uncertain significance 962158 GRCh37: 20:44669012-44669012
GRCh38: 20:46040373-46040373
208 KCNT1 NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu) SNV Uncertain significance 964549 GRCh37: 9:138594157-138594157
GRCh38: 9:135702311-135702311
209 KCNT1 NM_020822.3(KCNT1):c.732G>A (p.Leu244=) SNV Uncertain significance 384603 rs759580596 GRCh37: 9:138649200-138649200
GRCh38: 9:135757354-135757354
210 SLC12A5 NM_020708.5(SLC12A5):c.3218A>G (p.Asn1073Ser) SNV Uncertain significance 969070 GRCh37: 20:44685901-44685901
GRCh38: 20:46057262-46057262
211 KCNT1 NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys) SNV Uncertain significance 802537 rs767450181 GRCh37: 9:138678316-138678316
GRCh38: 9:135786470-135786470
212 KCNT1 NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile) SNV Uncertain significance 589977 rs1171803758 GRCh37: 9:138683726-138683726
GRCh38: 9:135791880-135791880
213 KCNT1 NM_020822.3(KCNT1):c.3538G>A (p.Val1180Ile) SNV Uncertain significance 1014642 GRCh37: 9:138683678-138683678
GRCh38: 9:135791832-135791832
214 SLC12A5 NM_020708.5(SLC12A5):c.21C>A (p.Asp7Glu) SNV Uncertain significance 1014711 GRCh37: 20:44658004-44658004
GRCh38: 20:46029365-46029365
215 SLC12A5 NM_020708.5(SLC12A5):c.284C>T (p.Pro95Leu) SNV Uncertain significance 377102 rs780511606 GRCh37: 20:44664420-44664420
GRCh38: 20:46035781-46035781
216 KCNT1 NM_020822.3(KCNT1):c.2120G>A (p.Arg707Gln) SNV Uncertain significance 1014886 GRCh37: 9:138664672-138664672
GRCh38: 9:135772826-135772826
217 KCNT1 NM_020822.3(KCNT1):c.952G>A (p.Gly318Ser) SNV Uncertain significance 1015552 GRCh37: 9:138651622-138651622
GRCh38: 9:135759776-135759776
218 SLC12A5 NM_020708.5(SLC12A5):c.2685G>C (p.Glu895Asp) SNV Uncertain significance 1015673 GRCh37: 20:44683560-44683560
GRCh38: 20:46054921-46054921
219 KCNT1 NM_020822.3(KCNT1):c.2812T>A (p.Tyr938Asn) SNV Uncertain significance 1015716 GRCh37: 9:138671287-138671287
GRCh38: 9:135779441-135779441
220 SLC12A5 NM_020708.5(SLC12A5):c.1983G>A (p.Glu661=) SNV Uncertain significance 1016015 GRCh37: 20:44676695-44676695
GRCh38: 20:46048056-46048056
221 SLC12A5 NM_020708.5(SLC12A5):c.2443C>T (p.Pro815Ser) SNV Uncertain significance 1016141 GRCh37: 20:44681661-44681661
GRCh38: 20:46053022-46053022
222 SLC12A5 NM_020708.5(SLC12A5):c.1465A>T (p.Ile489Phe) SNV Uncertain significance 1016365 GRCh37: 20:44673675-44673675
GRCh38: 20:46045036-46045036
223 KCNT1 NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) SNV Uncertain significance 449770 rs748537758 GRCh37: 9:138606530-138606530
GRCh38: 9:135714684-135714684
224 KCNT1 NM_020822.3(KCNT1):c.2097G>A (p.Thr699=) SNV Uncertain significance 514701 rs762620377 GRCh37: 9:138664649-138664649
GRCh38: 9:135772803-135772803
225 KCNT1 NM_020822.3(KCNT1):c.3178-5_3178-1dup Duplication Uncertain significance 1017887 GRCh37: 9:138678036-138678037
GRCh38: 9:135786190-135786191
226 SLC12A5 NM_020708.5(SLC12A5):c.1093A>G (p.Lys365Glu) SNV Uncertain significance 1018047 GRCh37: 20:44671818-44671818
GRCh38: 20:46043179-46043179
227 SLC12A5 NM_020708.5(SLC12A5):c.1401C>T (p.Gly467=) SNV Uncertain significance 1018376 GRCh37: 20:44673611-44673611
GRCh38: 20:46044972-46044972
228 KCNT1 NM_020822.3(KCNT1):c.3554C>T (p.Pro1185Leu) SNV Uncertain significance 1018773 GRCh37: 9:138683694-138683694
GRCh38: 9:135791848-135791848
229 KCNT1 NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys) SNV Uncertain significance 802537 rs767450181 GRCh37: 9:138678316-138678316
GRCh38: 9:135786470-135786470
230 KCNT1 NM_020822.3(KCNT1):c.1035+1G>A SNV Uncertain significance 1020307 GRCh37: 9:138651706-138651706
GRCh38: 9:135759860-135759860
231 KCNT1 NM_020822.3(KCNT1):c.1663C>T (p.Arg555Cys) SNV Uncertain significance 1020308 GRCh37: 9:138662187-138662187
GRCh38: 9:135770341-135770341
232 KCNT1 NM_020822.3(KCNT1):c.31G>A (p.Gly11Arg) SNV Uncertain significance 1020320 GRCh37: 9:138594135-138594135
GRCh38: 9:135702289-135702289
233 SLC12A5 NM_020708.5(SLC12A5):c.1558C>T (p.Pro520Ser) SNV Uncertain significance 1020454 GRCh37: 20:44673768-44673768
GRCh38: 20:46045129-46045129
234 SLC12A5 NM_020708.5(SLC12A5):c.1387C>T (p.Arg463Trp) SNV Uncertain significance 1021481 GRCh37: 20:44672565-44672565
GRCh38: 20:46043926-46043926
235 KCNT1 NM_020822.3(KCNT1):c.3307C>A (p.Pro1103Thr) SNV Uncertain significance 1021783 GRCh37: 9:138678172-138678172
GRCh38: 9:135786326-135786326
236 LOC113960611 , SLC12A5 NM_020708.5(SLC12A5):c.3347C>A (p.Ser1116Tyr) SNV Uncertain significance 1022216 GRCh37: 20:44686240-44686240
GRCh38: 20:46057601-46057601
237 KCNT1 NM_020822.3(KCNT1):c.3071G>A (p.Arg1024His) SNV Uncertain significance 1022945 GRCh37: 9:138676650-138676650
GRCh38: 9:135784804-135784804
238 KCNT1 NM_020822.3(KCNT1):c.898T>C (p.Ser300Pro) SNV Uncertain significance 589893 rs1564356207 GRCh37: 9:138651568-138651568
GRCh38: 9:135759722-135759722
239 KCNT1 NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp) SNV Uncertain significance 444789 rs775458154 GRCh37: 9:138662900-138662900
GRCh38: 9:135771054-135771054
240 SLC12A5 NM_020708.5(SLC12A5):c.1033G>A (p.Gly345Ser) SNV Uncertain significance 1024561 GRCh37: 20:44670146-44670146
GRCh38: 20:46041507-46041507
241 SLC12A5 NM_020708.5(SLC12A5):c.2210A>G (p.Lys737Arg) SNV Uncertain significance 1025283 GRCh37: 20:44680342-44680342
GRCh38: 20:46051703-46051703
242 SLC12A5 NM_020708.5(SLC12A5):c.306C>T (p.Gly102=) SNV Uncertain significance 1025298 GRCh37: 20:44664442-44664442
GRCh38: 20:46035803-46035803
243 KCNT1 NM_020822.3(KCNT1):c.1870T>C (p.Tyr624His) SNV Uncertain significance 1025427 GRCh37: 9:138662803-138662803
GRCh38: 9:135770957-135770957
244 KCNT1 NM_020822.3(KCNT1):c.1991G>A (p.Ser664Asn) SNV Uncertain significance 1025675 GRCh37: 9:138662924-138662924
GRCh38: 9:135771078-135771078
245 KCNT1 NM_020822.3(KCNT1):c.3368A>G (p.Gln1123Arg) SNV Uncertain significance 1026406 GRCh37: 9:138678233-138678233
GRCh38: 9:135786387-135786387
246 KCNT1 NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp) SNV Uncertain significance 1026438 GRCh37: 9:138664751-138664751
GRCh38: 9:135772905-135772905
247 LOC113960611 , SLC12A5 NM_020708.5(SLC12A5):c.3267G>T (p.Glu1089Asp) SNV Uncertain significance 1026794 GRCh37: 20:44686160-44686160
GRCh38: 20:46057521-46057521
248 KCNT1 NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) Deletion Uncertain significance 473368 rs754629346 GRCh37: 9:138664611-138664616
GRCh38: 9:135772765-135772770
249 KCNT1 NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) Duplication Uncertain significance 429344 rs757605635 GRCh37: 9:138664714-138664715
GRCh38: 9:135772868-135772869
250 KCNT1 NM_020822.3(KCNT1):c.398G>A (p.Arg133His) SNV Uncertain significance 648163 rs201295824 GRCh37: 9:138642851-138642851
GRCh38: 9:135751005-135751005
251 KCNT1 NM_020822.3(KCNT1):c.1834C>T (p.Pro612Ser) SNV Uncertain significance 649983 rs1330106369 GRCh37: 9:138662767-138662767
GRCh38: 9:135770921-135770921
252 KCNT1 NM_020822.3(KCNT1):c.730C>T (p.Leu244=) SNV Uncertain significance 651302 rs376096546 GRCh37: 9:138649198-138649198
GRCh38: 9:135757352-135757352
253 SLC12A5 NM_020708.5(SLC12A5):c.2375T>A (p.Ile792Asn) SNV Uncertain significance 655810 rs769820337 GRCh37: 20:44680507-44680507
GRCh38: 20:46051868-46051868
254 SLC12A5 NM_020708.5(SLC12A5):c.2375T>C (p.Ile792Thr) SNV Uncertain significance 659448 rs769820337 GRCh37: 20:44680507-44680507
GRCh38: 20:46051868-46051868
255 KCNT1 NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu) SNV Uncertain significance 663699 rs1439404936 GRCh37: 9:138678353-138678353
GRCh38: 9:135786507-135786507
256 KCNT1 NM_020822.3(KCNT1):c.2449T>C (p.Phe817Leu) SNV Uncertain significance 835737 GRCh37: 9:138669283-138669283
GRCh38: 9:135777437-135777437
257 KCNT1 NM_020822.3(KCNT1):c.793_796del (p.Ser265fs) Deletion Uncertain significance 835741 GRCh37: 9:138650290-138650293
GRCh38: 9:135758444-135758447
258 SLC12A5 NM_020708.5(SLC12A5):c.2296C>A (p.Leu766Met) SNV Uncertain significance 839126 GRCh37: 20:44680428-44680428
GRCh38: 20:46051789-46051789
259 KCNT1 NM_020822.3(KCNT1):c.46G>C (p.Glu16Gln) SNV Uncertain significance 840170 GRCh37: 9:138594150-138594150
GRCh38: 9:135702304-135702304
260 KCNT1 NM_020822.3(KCNT1):c.1975del (p.Arg659fs) Deletion Uncertain significance 840541 GRCh37: 9:138662906-138662906
GRCh38: 9:135771060-135771060
261 KCNT1 NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val) SNV Uncertain significance 449921 rs745484103 GRCh37: 9:138678224-138678224
GRCh38: 9:135786378-135786378
262 KCNT1 NM_020822.3(KCNT1):c.1423G>A (p.Ala475Thr) SNV Uncertain significance 846823 GRCh37: 9:138660696-138660696
GRCh38: 9:135768850-135768850
263 SLC12A5 NM_020708.5(SLC12A5):c.3062C>T (p.Pro1021Leu) SNV Uncertain significance 852888 GRCh37: 20:44685155-44685155
GRCh38: 20:46056516-46056516
264 KCNT1 NM_020822.3(KCNT1):c.1837C>T (p.Arg613Trp) SNV Uncertain significance 854655 GRCh37: 9:138662770-138662770
GRCh38: 9:135770924-135770924
265 KCNT1 NM_020822.3(KCNT1):c.2005A>G (p.Met669Val) SNV Uncertain significance 856718 GRCh37: 9:138662938-138662938
GRCh38: 9:135771092-135771092
266 KCNT1 NM_020822.3(KCNT1):c.1234A>G (p.Met412Val) SNV Uncertain significance 859686 GRCh37: 9:138657503-138657503
GRCh38: 9:135765657-135765657
267 KCNT1 NM_020822.3(KCNT1):c.3431C>G (p.Ser1144Cys) SNV Uncertain significance 942238 GRCh37: 9:138678296-138678296
GRCh38: 9:135786450-135786450
268 SLC12A5 NM_020708.5(SLC12A5):c.1318G>A (p.Ala440Thr) SNV Uncertain significance 944302 GRCh37: 20:44672352-44672352
GRCh38: 20:46043713-46043713
269 SLC12A5 NM_020708.5(SLC12A5):c.2377+5C>T SNV Uncertain significance 945462 GRCh37: 20:44680514-44680514
GRCh38: 20:46051875-46051875
270 SLC12A5 NM_020708.5(SLC12A5):c.2260G>A (p.Val754Met) SNV Uncertain significance 946132 GRCh37: 20:44680392-44680392
GRCh38: 20:46051753-46051753
271 SLC12A5 NM_020708.5(SLC12A5):c.1907+5G>A SNV Uncertain significance 946647 GRCh37: 20:44676217-44676217
GRCh38: 20:46047578-46047578
272 KCNT1 NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp) SNV Uncertain significance 946657 GRCh37: 9:138678181-138678181
GRCh38: 9:135786335-135786335
273 KCNT1 NM_020822.3(KCNT1):c.3027C>T (p.Ala1009=) SNV Uncertain significance 946673 GRCh37: 9:138676464-138676464
GRCh38: 9:135784618-135784618
274 SLC12A5 NM_020708.5(SLC12A5):c.2171G>A (p.Arg724Gln) SNV Uncertain significance 948054 GRCh37: 20:44678419-44678419
GRCh38: 20:46049780-46049780
275 KCNT1 NM_020822.3(KCNT1):c.3103G>A (p.Glu1035Lys) SNV Uncertain significance 948343 GRCh37: 9:138676682-138676682
GRCh38: 9:135784836-135784836
276 KCNT1 NM_020822.3(KCNT1):c.3646A>C (p.Ser1216Arg) SNV Uncertain significance 949120 GRCh37: 9:138683945-138683945
GRCh38: 9:135792099-135792099
277 SLC12A5 NM_020708.5(SLC12A5):c.1960C>A (p.Arg654Ser) SNV Uncertain significance 949925 GRCh37: 20:44676672-44676672
GRCh38: 20:46048033-46048033
278 KCNT1 NM_020822.3(KCNT1):c.1748C>T (p.Ala583Val) SNV Uncertain significance 588301 rs1554774904 GRCh37: 9:138662272-138662272
GRCh38: 9:135770426-135770426
279 KCNT1 NM_020822.3(KCNT1):c.3374G>A (p.Gly1125Asp) SNV Uncertain significance 954860 GRCh37: 9:138678239-138678239
GRCh38: 9:135786393-135786393
280 SLC12A5 NM_020708.5(SLC12A5):c.2350G>T (p.Asp784Tyr) SNV Uncertain significance 955243 GRCh37: 20:44680482-44680482
GRCh38: 20:46051843-46051843
281 KCNT1 NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) SNV Uncertain significance 389773 rs376757326 GRCh37: 9:138670613-138670613
GRCh38: 9:135778767-135778767
282 KCNT1 NM_020822.3(KCNT1):c.1161G>A (p.Met387Ile) SNV Uncertain significance 1024866 GRCh37: 9:138657002-138657002
GRCh38: 9:135765156-135765156
283 SLC12A5 NM_020708.5(SLC12A5):c.2787+6G>A SNV Uncertain significance 957530 GRCh37: 20:44683668-44683668
GRCh38: 20:46055029-46055029
284 KCNT1 NM_020822.3(KCNT1):c.2779A>T (p.Met927Leu) SNV Uncertain significance 961311 GRCh37: 9:138671254-138671254
GRCh38: 9:135779408-135779408
285 KCNT1 NM_020822.3(KCNT1):c.4C>T (p.Pro2Ser) SNV Uncertain significance 964279 GRCh37: 9:138594108-138594108
GRCh38: 9:135702262-135702262
286 KCNT1 NM_020822.3(KCNT1):c.3145_3147del (p.Ser1049del) Deletion Uncertain significance 965168 GRCh37: 9:138676723-138676725
GRCh38: 9:135784877-135784879
287 KCNT1 NM_020822.3(KCNT1):c.3588C>T (p.Val1196=) SNV Uncertain significance 872154 GRCh37: 9:138683887-138683887
GRCh38: 9:135792041-135792041
288 KCNT1 NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His) SNV Uncertain significance 540582 rs1182743416 GRCh37: 9:138678293-138678293
GRCh38: 9:135786447-135786447
289 KCNT1 NM_020822.3(KCNT1):c.2191C>A (p.Gln731Lys) SNV Uncertain significance 540583 rs1437258889 GRCh37: 9:138664743-138664743
GRCh38: 9:135772897-135772897
290 KCNT1 NM_020822.3(KCNT1):c.62G>A (p.Gly21Asp) SNV Uncertain significance 540584 rs368870705 GRCh37: 9:138594166-138594166
GRCh38: 9:135702320-135702320
291 KCNT1 NM_020822.3(KCNT1):c.2020A>G (p.Met674Val) SNV Uncertain significance 540585 rs753401695 GRCh37: 9:138664572-138664572
GRCh38: 9:135772726-135772726
292 KCNT1 NM_020822.3(KCNT1):c.82_85delinsC (p.Glu28_Phe29delinsLeu) Indel Uncertain significance 540574 rs1554760875 GRCh37: 9:138594186-138594189
GRCh38: 9:135702340-135702343
293 KCNT1 NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe) SNV Uncertain significance 540576 rs769083534 GRCh37: 9:138683970-138683970
GRCh38: 9:135792124-135792124
294 KCNT1 NM_020822.3(KCNT1):c.2329_2331TGC[1] (p.Cys778del) Microsatellite Uncertain significance 540578 rs1390654782 GRCh37: 9:138667240-138667242
GRCh38: 9:135775394-135775396
295 KCNT1 NM_020822.3(KCNT1):c.240C>G (p.Phe80Leu) SNV Uncertain significance 540579 rs1554763398 GRCh37: 9:138606552-138606552
GRCh38: 9:135714706-135714706
296 KCNT1 NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) SNV Uncertain significance 92165 rs886044717 GRCh37: 9:138671269-138671269
GRCh38: 9:135779423-135779423
297 KCNT1 NM_020822.3(KCNT1):c.2098G>C (p.Glu700Gln) SNV Uncertain significance 540580 rs1554775570 GRCh37: 9:138664650-138664650
GRCh38: 9:135772804-135772804
298 KCNT1 NM_020822.3(KCNT1):c.3464A>C (p.Asn1155Thr) SNV Uncertain significance 540581 rs1283268556 GRCh37: 9:138678329-138678329
GRCh38: 9:135786483-135786483
299 SLC12A5 NM_020708.5(SLC12A5):c.1613T>C (p.Leu538Pro) SNV Uncertain significance 475643 rs1555865050 GRCh37: 20:44674560-44674560
GRCh38: 20:46045921-46045921
300 KCNT1 NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu) SNV Uncertain significance 473361 rs770986306 GRCh37: 9:138662161-138662161
GRCh38: 9:135770315-135770315
301 KCNT1 NM_020822.3(KCNT1):c.85T>C (p.Phe29Leu) SNV Uncertain significance 540597 rs1406826181 GRCh37: 9:138594189-138594189
GRCh38: 9:135702343-135702343
302 SLC12A5 NM_020708.5(SLC12A5):c.1955C>T (p.Ala652Val) SNV Uncertain significance 542318 rs1555865828 GRCh37: 20:44676667-44676667
GRCh38: 20:46048028-46048028
303 SLC12A5 NM_020708.5(SLC12A5):c.2402G>A (p.Gly801Asp) SNV Uncertain significance 542319 rs1555867242 GRCh37: 20:44681620-44681620
GRCh38: 20:46052981-46052981
304 KCNT1 NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) SNV Uncertain significance 548573 rs373365707 GRCh37: 9:138676638-138676638
GRCh38: 9:135784792-135784792
305 KCNT1 NM_020822.3(KCNT1):c.2795T>C (p.Phe932Ser) SNV Uncertain significance 561038 rs1564383774 GRCh37: 9:138671270-138671270
GRCh38: 9:135779424-135779424
306 KCNT1 NM_020822.3(KCNT1):c.800T>C (p.Met267Thr) SNV Uncertain significance 561039 rs1564354299 GRCh37: 9:138650300-138650300
GRCh38: 9:135758454-135758454
307 KCNT1 NM_020822.3(KCNT1):c.191T>G (p.Leu64Trp) SNV Uncertain significance 565633 rs1564314603 GRCh37: 9:138606503-138606503
GRCh38: 9:135714657-135714657
308 KCNT1 NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met) SNV Uncertain significance 566119 rs538197009 GRCh37: 9:138664648-138664648
GRCh38: 9:135772802-135772802
309 KCNT1 NM_020822.3(KCNT1):c.1645T>G (p.Trp549Gly) SNV Uncertain significance 566244 rs1564370162 GRCh37: 9:138662169-138662169
GRCh38: 9:135770323-135770323
310 KCNT1 NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) SNV Uncertain significance 224110 rs869312682 GRCh37: 9:138606448-138606448
GRCh38: 9:135714602-135714602
311 KCNT1 NM_020822.3(KCNT1):c.2503G>A (p.Val835Met) SNV Uncertain significance 568887 rs753584318 GRCh37: 9:138669337-138669337
GRCh38: 9:135777491-135777491
312 KCNT1 NM_020822.3(KCNT1):c.3172G>A (p.Ala1058Thr) SNV Uncertain significance 568931 rs1564392375 GRCh37: 9:138677171-138677171
GRCh38: 9:135785325-135785325
313 KCNT1 NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) SNV Uncertain significance 571802 rs750994724 GRCh37: 9:138664596-138664596
GRCh38: 9:135772750-135772750
314 KCNT1 NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro) SNV Uncertain significance 572362 rs747837141 GRCh37: 9:138678083-138678083
GRCh38: 9:135786237-135786237
315 KCNT1 NM_020822.3(KCNT1):c.3688C>T (p.Arg1230Cys) SNV Uncertain significance 572792 rs771068120 GRCh37: 9:138683987-138683987
GRCh38: 9:135792141-135792141
316 KCNT1 NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro) SNV Uncertain significance 626126 rs917893164 GRCh37: 9:138678112-138678112
GRCh38: 9:135786266-135786266
317 KCNT1 NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) SNV Uncertain significance 502633 rs140367649 GRCh37: 9:138656951-138656951
GRCh38: 9:135765105-135765105
318 KCNT1 NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) SNV Uncertain significance 595530 rs141695705 GRCh37: 9:138676651-138676651
GRCh38: 9:135784805-135784805
319 KCNT1 NM_020822.3(KCNT1):c.247G>C (p.Asp83His) SNV Uncertain significance 640345 rs774085172 GRCh37: 9:138606559-138606559
GRCh38: 9:135714713-135714713
320 KCNT1 NM_020822.3(KCNT1):c.65A>G (p.Tyr22Cys) SNV Uncertain significance 640758 rs551930493 GRCh37: 9:138594169-138594169
GRCh38: 9:135702323-135702323
321 SLC12A5 NM_020708.5(SLC12A5):c.3142C>T (p.Arg1048Trp) SNV Uncertain significance 640903 rs369042030 GRCh37: 20:44685825-44685825
GRCh38: 20:46057186-46057186
322 SLC12A5 NM_020708.5(SLC12A5):c.1148C>T (p.Thr383Ile) SNV Uncertain significance 642781 rs201727005 GRCh37: 20:44671873-44671873
GRCh38: 20:46043234-46043234
323 SLC12A5 NM_020708.5(SLC12A5):c.866T>G (p.Leu289Arg) SNV Uncertain significance 642908 rs1600595445 GRCh37: 20:44669979-44669979
GRCh38: 20:46041340-46041340
324 KCNT1 NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu) SNV Uncertain significance 642999 rs997774104 GRCh37: 9:138675916-138675916
GRCh38: 9:135784070-135784070
325 SLC12A5 NM_020708.5(SLC12A5):c.2862C>A (p.Asn954Lys) SNV Uncertain significance 643672 rs754601939 GRCh37: 20:44684863-44684863
GRCh38: 20:46056224-46056224
326 KCNT1 NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln) SNV Uncertain significance 643691 rs750176430 GRCh37: 9:138678325-138678325
GRCh38: 9:135786479-135786479
327 KCNT1 NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser) SNV Uncertain significance 643923 rs748115007 GRCh37: 9:138678151-138678151
GRCh38: 9:135786305-135786305
328 KCNT1 NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu) SNV Uncertain significance 644031 rs1588401995 GRCh37: 9:138676657-138676657
GRCh38: 9:135784811-135784811
329 SLC12A5 NM_020708.5(SLC12A5):c.1333G>A (p.Val445Ile) SNV Uncertain significance 644084 rs1600597599 GRCh37: 20:44672367-44672367
GRCh38: 20:46043728-46043728
330 SLC12A5 NM_020708.5(SLC12A5):c.1834A>G (p.Ile612Val) SNV Uncertain significance 644093 rs1600600642 GRCh37: 20:44676139-44676139
GRCh38: 20:46047500-46047500
331 SLC12A5 NM_020708.5(SLC12A5):c.2935G>A (p.Ala979Thr) SNV Uncertain significance 644671 rs751920054 GRCh37: 20:44685028-44685028
GRCh38: 20:46056389-46056389
332 KCNT1 NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) SNV Uncertain significance 548573 rs373365707 GRCh37: 9:138676638-138676638
GRCh38: 9:135784792-135784792
333 SLC12A5 NM_020708.5(SLC12A5):c.2963C>T (p.Ser988Phe) SNV Uncertain significance 646269 rs1600607044 GRCh37: 20:44685056-44685056
GRCh38: 20:46056417-46056417
334 KCNT1 NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp) SNV Uncertain significance 647099 rs755348603 GRCh37: 9:138606523-138606523
GRCh38: 9:135714677-135714677
335 KCNT1 NM_020822.3(KCNT1):c.852G>A (p.Thr284=) SNV Uncertain significance 650410 rs773023899 GRCh37: 9:138650352-138650352
GRCh38: 9:135758506-135758506
336 SLC12A5 NM_020708.5(SLC12A5):c.2854C>T (p.Arg952Cys) SNV Uncertain significance 652690 rs747552467 GRCh37: 20:44684855-44684855
GRCh38: 20:46056216-46056216
337 KCNT1 NM_020822.3(KCNT1):c.962C>T (p.Thr321Met) SNV Uncertain significance 652712 rs1588330851 GRCh37: 9:138651632-138651632
GRCh38: 9:135759786-135759786
338 KCNT1 NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu) SNV Uncertain significance 652819 rs775923151 GRCh37: 9:138667182-138667182
GRCh38: 9:135775336-135775336
339 SLC12A5 NM_020708.5(SLC12A5):c.2119G>C (p.Val707Leu) SNV Uncertain significance 653121 rs1199339536 GRCh37: 20:44678367-44678367
GRCh38: 20:46049728-46049728
340 SLC12A5 NM_020708.5(SLC12A5):c.2885A>G (p.Asp962Gly) SNV Uncertain significance 653443 rs1284519025 GRCh37: 20:44684886-44684886
GRCh38: 20:46056247-46056247
341 KCNT1 NM_020822.3(KCNT1):c.3326G>A (p.Ser1109Asn) SNV Uncertain significance 653930 rs1588407944 GRCh37: 9:138678191-138678191
GRCh38: 9:135786345-135786345
342 KCNT1 NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile) SNV Uncertain significance 653977 rs778483249 GRCh37: 9:138660771-138660771
GRCh38: 9:135768925-135768925
343 KCNT1 NM_020822.3(KCNT1):c.1490A>G (p.Lys497Arg) SNV Uncertain significance 654500 rs1245114972 GRCh37: 9:138660763-138660763
GRCh38: 9:135768917-135768917
344 KCNT1 NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val) SNV Uncertain significance 655649 rs996610690 GRCh37: 9:138678175-138678175
GRCh38: 9:135786329-135786329
345 KCNT1 NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys) SNV Uncertain significance 540560 rs1459930316 GRCh37: 9:138684007-138684007
GRCh38: 9:135792161-135792161
346 KCNT1 NM_020822.3(KCNT1):c.400G>A (p.Val134Ile) SNV Uncertain significance 540561 rs766663683 GRCh37: 9:138642853-138642853
GRCh38: 9:135751007-135751007
347 KCNT1 NM_020822.3(KCNT1):c.1748C>G (p.Ala583Gly) SNV Uncertain significance 540562 rs1554774904 GRCh37: 9:138662272-138662272
GRCh38: 9:135770426-135770426
348 KCNT1 NM_020822.3(KCNT1):c.1938G>T (p.Arg646Ser) SNV Uncertain significance 540563 rs753543470 GRCh37: 9:138662871-138662871
GRCh38: 9:135771025-135771025
349 KCNT1 NM_020822.3(KCNT1):c.754A>T (p.Met252Leu) SNV Uncertain significance 540564 rs755782470 GRCh37: 9:138649222-138649222
GRCh38: 9:135757376-135757376
350 KCNT1 NM_020822.3(KCNT1):c.2221G>A (p.Asp741Asn) SNV Uncertain significance 540565 rs375403065 GRCh37: 9:138664773-138664773
GRCh38: 9:135772927-135772927
351 KCNT1 NM_020822.3(KCNT1):c.152G>C (p.Gly51Ala) SNV Uncertain significance 540566 rs1554763393 GRCh37: 9:138606464-138606464
GRCh38: 9:135714618-135714618
352 KCNT1 NM_020822.3(KCNT1):c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer) Indel Uncertain significance 540567 rs1554774874 GRCh37: 9:138662222-138662223
GRCh38: 9:135770376-135770377
353 KCNT1 NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln) SNV Uncertain significance 540568 rs763578184 GRCh37: 9:138676704-138676704
GRCh38: 9:135784858-135784858
354 KCNT1 NM_020822.3(KCNT1):c.2903G>A (p.Arg968His) SNV Uncertain significance 540569 rs1325608473 GRCh37: 9:138675931-138675931
GRCh38: 9:135784085-135784085
355 KCNT1 NM_020822.3(KCNT1):c.3425G>A (p.Arg1142Gln) SNV Uncertain significance 540570 rs773520283 GRCh37: 9:138678290-138678290
GRCh38: 9:135786444-135786444
356 KCNT1 NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys) SNV Uncertain significance 540571 rs150395210 GRCh37: 9:138671272-138671272
GRCh38: 9:135779426-135779426
357 SLC12A5 NM_020708.5(SLC12A5):c.694G>A (p.Val232Ile) SNV Uncertain significance 475659 rs1555863136 GRCh37: 20:44669093-44669093
GRCh38: 20:46040454-46040454
358 KCNT1 NM_020822.3(KCNT1):c.2757G>A (p.Thr919=) SNV Uncertain significance 473375 rs775752475 GRCh37: 9:138671232-138671232
GRCh38: 9:135779386-135779386
359 KCNT1 NM_020822.3(KCNT1):c.1174G>A (p.Glu392Lys) SNV Uncertain significance 473356 rs780708628 GRCh37: 9:138657015-138657015
GRCh38: 9:135765169-135765169
360 SLC12A5 NM_020708.5(SLC12A5):c.2059G>T (p.Val687Leu) SNV Uncertain significance 475645 rs1175869873 GRCh37: 20:44678307-44678307
GRCh38: 20:46049668-46049668
361 KCNT1 NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) SNV Uncertain significance 290007 rs776559951 GRCh37: 9:138650276-138650276
GRCh38: 9:135758430-135758430
362 SLC12A5 NM_020708.5(SLC12A5):c.2330G>A (p.Arg777His) SNV Uncertain significance 475648 rs749336515 GRCh37: 20:44680462-44680462
GRCh38: 20:46051823-46051823
363 KCNT1 NM_020822.3(KCNT1):c.1619+6T>A SNV Uncertain significance 473360 rs1328836350 GRCh37: 9:138661907-138661907
GRCh38: 9:135770061-135770061
364 KCNT1 NM_020822.3(KCNT1):c.2977C>T (p.Arg993Trp) SNV Uncertain significance 473379 rs368252006 GRCh37: 9:138676414-138676414
GRCh38: 9:135784568-135784568
365 KCNT1 NM_020822.3(KCNT1):c.1444G>A (p.Ala482Thr) SNV Uncertain significance 473359 rs577633745 GRCh37: 9:138660717-138660717
GRCh38: 9:135768871-135768871
366 KCNT1 NM_020822.3(KCNT1):c.2848C>T (p.Arg950Ter) SNV Uncertain significance 473377 rs1276883403 GRCh37: 9:138675876-138675876
GRCh38: 9:135784030-135784030
367 KCNT1 NM_020822.3(KCNT1):c.3608C>A (p.Pro1203His) SNV Uncertain significance 473393 rs762025166 GRCh37: 9:138683907-138683907
GRCh38: 9:135792061-135792061
368 KCNT1 NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) SNV Uncertain significance 194883 rs532620254 GRCh37: 9:138662860-138662860
GRCh38: 9:135771014-135771014
369 KCNT1 NM_020822.3(KCNT1):c.3298G>A (p.Ala1100Thr) SNV Uncertain significance 473386 rs769422518 GRCh37: 9:138678163-138678163
GRCh38: 9:135786317-135786317
370 KCNT1 NM_020822.3(KCNT1):c.1249C>T (p.Arg417Cys) SNV Uncertain significance 473357 rs781342838 GRCh37: 9:138657518-138657518
GRCh38: 9:135765672-135765672
371 KCNT1 NM_020822.3(KCNT1):c.199C>T (p.Arg67Cys) SNV Uncertain significance 412319 rs1060503698 GRCh37: 9:138606511-138606511
GRCh38: 9:135714665-135714665
372 KCNT1 NM_020822.3(KCNT1):c.1250G>A (p.Arg417His) SNV Uncertain significance 412310 rs745965148 GRCh37: 9:138657519-138657519
GRCh38: 9:135765673-135765673
373 KCNT1 NM_020822.3(KCNT1):c.2695G>A (p.Ala899Thr) SNV Uncertain significance 412309 rs778647834 GRCh37: 9:138670634-138670634
GRCh38: 9:135778788-135778788
374 KCNT1 NM_020822.3(KCNT1):c.3244C>G (p.Arg1082Gly) SNV Uncertain significance 412306 rs776232246 GRCh37: 9:138678109-138678109
GRCh38: 9:135786263-135786263
375 KCNT1 NM_020822.3(KCNT1):c.2119C>T (p.Arg707Trp) SNV Uncertain significance 412315 rs568144711 GRCh37: 9:138664671-138664671
GRCh38: 9:135772825-135772825
376 KCNT1 NM_020822.3(KCNT1):c.2527G>C (p.Asp843His) SNV Uncertain significance 412311 rs376758763 GRCh37: 9:138670274-138670274
GRCh38: 9:135778428-135778428
377 KCNT1 NM_020822.3(KCNT1):c.3407A>G (p.Gln1136Arg) SNV Uncertain significance 813813 GRCh37: 9:138678272-138678272
GRCh38: 9:135786426-135786426
378 KCNT1 NC_000009.12:g.(?_135769927)_(135792181_?)dup Duplication Uncertain significance 832401 GRCh37: 9:138661773-138684027
GRCh38:
379 KCNT1 NC_000009.12:g.(?_135786177)_(135792181_?)del Deletion Uncertain significance 833297 GRCh37: 9:138678023-138684027
GRCh38:
380 KCNT1 NM_020822.3(KCNT1):c.3320G>A (p.Arg1107His) SNV Uncertain significance 590183 rs756256138 GRCh37: 9:138678185-138678185
GRCh38: 9:135786339-135786339
381 SLC12A5 NM_020708.5(SLC12A5):c.3222G>A (p.Met1074Ile) SNV Uncertain significance 842454 GRCh37: 20:44685905-44685905
GRCh38: 20:46057266-46057266
382 KCNT1 NM_020822.3(KCNT1):c.1984G>T (p.Val662Leu) SNV Uncertain significance 842583 GRCh37: 9:138662917-138662917
GRCh38: 9:135771071-135771071
383 KCNT1 NM_020822.3(KCNT1):c.195_254+851del Deletion Uncertain significance 845198 GRCh37: 9:138606504-138607414
GRCh38: 9:135714658-135715568
384 SLC12A5 NM_020708.5(SLC12A5):c.287G>T (p.Arg96Leu) SNV Uncertain significance 949055 GRCh37: 20:44664423-44664423
GRCh38: 20:46035784-46035784
385 KCNT1 NM_020822.3(KCNT1):c.2117G>A (p.Arg706Gln) SNV Uncertain significance 953580 GRCh37: 9:138664669-138664669
GRCh38: 9:135772823-135772823
386 KCNT1 NM_020822.3(KCNT1):c.2350-3C>T SNV Uncertain significance 955315 GRCh37: 9:138669181-138669181
GRCh38: 9:135777335-135777335
387 SLC12A5 NM_020708.5(SLC12A5):c.1689-7G>A SNV Uncertain significance 931283 GRCh37: 20:44674970-44674970
GRCh38: 20:46046331-46046331
388 KCNT1 NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) SNV Uncertain significance 571802 rs750994724 GRCh37: 9:138664596-138664596
GRCh38: 9:135772750-135772750
389 KCNT1 NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro) SNV Uncertain significance 593577 rs1450164108 GRCh37: 9:138676629-138676629
GRCh38: 9:135784783-135784783
390 KCNT1 NM_020822.3(KCNT1):c.2465G>A (p.Arg822Gln) SNV Uncertain significance 935879 GRCh37: 9:138669299-138669299
GRCh38: 9:135777453-135777453
391 KCNT1 NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) SNV Uncertain significance 279822 rs372028322 GRCh37: 9:138683897-138683897
GRCh38: 9:135792051-135792051
392 KCNT1 NC_000009.11:g.(?_138594085)_(138606586_?)dup Duplication Uncertain significance 662288 GRCh37: 9:138594085-138606586
GRCh38: 9:135702239-135714740
393 KCNT1 NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) SNV Uncertain significance 662662 rs1588344733 GRCh37: 9:138657494-138657494
GRCh38: 9:135765648-135765648
394 KCNT1 NM_020822.3(KCNT1):c.2522+3G>A SNV Uncertain significance 664889 rs1588381370 GRCh37: 9:138669359-138669359
GRCh38: 9:135777513-135777513
395 KCNT1 NM_020822.3(KCNT1):c.3205T>A (p.Cys1069Ser) SNV Uncertain significance 656481 rs781225639 GRCh37: 9:138678070-138678070
GRCh38: 9:135786224-135786224
396 SLC12A5 NM_020708.5(SLC12A5):c.937G>A (p.Val313Met) SNV Uncertain significance 657120 rs138569099 GRCh37: 20:44670050-44670050
GRCh38: 20:46041411-46041411
397 SLC12A5 NM_020708.5(SLC12A5):c.2893G>C (p.Glu965Gln) SNV Uncertain significance 658856 rs776262547 GRCh37: 20:44684894-44684894
GRCh38: 20:46056255-46056255
398 KCNT1 NM_020822.3(KCNT1):c.3124C>T (p.Arg1042Trp) SNV Uncertain significance 659210 rs772472766 GRCh37: 9:138676703-138676703
GRCh38: 9:135784857-135784857
399 KCNT1 NM_020822.3(KCNT1):c.112C>G (p.Arg38Gly) SNV Uncertain significance 665465 rs1588255201 GRCh37: 9:138606424-138606424
GRCh38: 9:135714578-135714578
400 KCNT1 NM_020822.3(KCNT1):c.338T>A (p.Leu113Gln) SNV Uncertain significance 665778 rs1588309597 GRCh37: 9:138642791-138642791
GRCh38: 9:135750945-135750945
401 KCNT1 NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg) SNV Uncertain significance 578621 rs978227077 GRCh37: 9:138651638-138651638
GRCh38: 9:135759792-135759792
402 KCNT1 NM_020822.3(KCNT1):c.2585C>G (p.Ser862Cys) SNV Uncertain significance 579064 rs1564381972 GRCh37: 9:138670332-138670332
GRCh38: 9:135778486-135778486
403 KCNT1 NM_020822.3(KCNT1):c.1672G>T (p.Gly558Cys) SNV Uncertain significance 579123 rs1564370223 GRCh37: 9:138662196-138662196
GRCh38: 9:135770350-135770350
404 SLC12A5 NM_020708.5(SLC12A5):c.3178A>G (p.Ile1060Val) SNV Uncertain significance 579251 rs770196677 GRCh37: 20:44685861-44685861
GRCh38: 20:46057222-46057222
405 SLC12A5 NM_020708.5(SLC12A5):c.2165C>T (p.Ala722Val) SNV Uncertain significance 579252 rs1301239632 GRCh37: 20:44678413-44678413
GRCh38: 20:46049774-46049774
406 KCNT1 NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val) SNV Uncertain significance 579353 rs1381344367 GRCh37: 9:138678236-138678236
GRCh38: 9:135786390-135786390
407 KCNT1 NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser) SNV Uncertain significance 579938 rs1277322108 GRCh37: 9:138675897-138675897
GRCh38: 9:135784051-135784051
408 SLC12A5 NM_020708.5(SLC12A5):c.2840C>G (p.Ala947Gly) SNV Uncertain significance 445720 rs199934904 GRCh37: 20:44684841-44684841
GRCh38: 20:46056202-46056202
409 SLC12A5 NM_020708.5(SLC12A5):c.1381G>A (p.Val461Ile) SNV Uncertain significance 576593 rs201487205 GRCh37: 20:44672559-44672559
GRCh38: 20:46043920-46043920
410 SLC12A5 NM_020708.5(SLC12A5):c.2776C>T (p.Arg926Trp) SNV Uncertain significance 577427 rs370818838 GRCh37: 20:44683651-44683651
GRCh38: 20:46055012-46055012
411 KCNT1 NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) SNV Uncertain significance 581543 rs570983410 GRCh37: 9:138664614-138664614
GRCh38: 9:135772768-135772768
412 KCNT1 NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys) SNV Uncertain significance 581777 rs1564367281 GRCh37: 9:138660508-138660508
GRCh38: 9:135768662-135768662
413 SLC12A5 NM_020708.5(SLC12A5):c.1098C>T (p.Gly366=) SNV Uncertain significance 582684 rs770170831 GRCh37: 20:44671823-44671823
GRCh38: 20:46043184-46043184
414 KCNT1 NM_020822.3(KCNT1):c.57C>T (p.Gly19=) SNV Uncertain significance 583079 rs1245480933 GRCh37: 9:138594161-138594161
GRCh38: 9:135702315-135702315
415 KCNT1 NM_020822.3(KCNT1):c.3252C>T (p.Gly1084=) SNV Uncertain significance 583108 rs948170691 GRCh37: 9:138678117-138678117
GRCh38: 9:135786271-135786271
416 KCNT1 NM_020822.3(KCNT1):c.10C>T (p.Pro4Ser) SNV Uncertain significance 583110 rs778405770 GRCh37: 9:138594114-138594114
GRCh38: 9:135702268-135702268
417 KCNT1 NM_020822.3(KCNT1):c.2435A>G (p.Asn812Ser) SNV Uncertain significance 574798 rs1564380461 GRCh37: 9:138669269-138669269
GRCh38: 9:135777423-135777423
418 SLC12A5 NM_020708.5(SLC12A5):c.2143T>C (p.Phe715Leu) SNV Uncertain significance 574875 rs890647462 GRCh37: 20:44678391-44678391
GRCh38: 20:46049752-46049752
419 KCNT1 NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser) SNV Uncertain significance 546366 rs756112023 GRCh37: 9:138664726-138664726
GRCh38: 9:135772880-135772880
420 SLC12A5 NM_020708.5(SLC12A5):c.317C>T (p.Pro106Leu) SNV Uncertain significance 971851 GRCh37: 20:44664453-44664453
GRCh38: 20:46035814-46035814
421 KCNT1 NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp) SNV Uncertain significance 1009174 GRCh37: 9:138670667-138670667
GRCh38: 9:135778821-135778821
422 SLC12A5 NM_020708.5(SLC12A5):c.148-16C>G SNV Uncertain significance 1029767 GRCh37: 20:44664027-44664027
GRCh38: 20:46035388-46035388
423 SLC12A5 NM_020708.5(SLC12A5):c.2682T>A (p.His894Gln) SNV Uncertain significance 1029768 GRCh37: 20:44683557-44683557
GRCh38: 20:46054918-46054918
424 SLC12A5 NM_020708.5(SLC12A5):c.2029C>A (p.Leu677Met) SNV Uncertain significance 1033948 GRCh37: 20:44678277-44678277
GRCh38: 20:46049638-46049638
425 SLC12A5 NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=) SNV Uncertain significance 1033949 GRCh37: 20:44682327-44682327
GRCh38: 20:46053688-46053688
426 SLC12A5 NM_020708.5(SLC12A5):c.3002C>T (p.Pro1001Leu) SNV Uncertain significance 1033950 GRCh37: 20:44685095-44685095
GRCh38: 20:46056456-46056456
427 LOC113960611 , SLC12A5 NM_020708.5(SLC12A5):c.3330G>A (p.Glu1110=) SNV Uncertain significance 1033951 GRCh37: 20:44686223-44686223
GRCh38: 20:46057584-46057584
428 SLC12A5 NM_020708.5(SLC12A5):c.2754G>C (p.Gln918His) SNV Uncertain significance 1034889 GRCh37: 20:44683629-44683629
GRCh38: 20:46054990-46054990
429 KCNT1 NM_020822.3(KCNT1):c.704del (p.Phe235fs) Deletion Uncertain significance 1035125 GRCh37: 9:138649171-138649171
GRCh38: 9:135757325-135757325
430 KCNT1 NM_020822.3(KCNT1):c.555A>G (p.Ile185Met) SNV Uncertain significance 1035355 GRCh37: 9:138648733-138648733
GRCh38: 9:135756887-135756887
431 SLC12A5 NM_020708.5(SLC12A5):c.2155C>A (p.His719Asn) SNV Uncertain significance 1035492 GRCh37: 20:44678403-44678403
GRCh38: 20:46049764-46049764
432 KCNT1 NM_020822.3(KCNT1):c.3028-5T>G SNV Uncertain significance 1035506 GRCh37: 9:138676602-138676602
GRCh38: 9:135784756-135784756
433 SLC12A5 NM_020708.5(SLC12A5):c.1369A>G (p.Ile457Val) SNV Uncertain significance 1035585 GRCh37: 20:44672547-44672547
GRCh38: 20:46043908-46043908
434 KCNT1 NM_020822.3(KCNT1):c.1011G>A (p.Val337=) SNV Uncertain significance 1035965 GRCh37: 9:138651681-138651681
GRCh38: 9:135759835-135759835
435 KCNT1 NM_020822.3(KCNT1):c.3385G>A (p.Ala1129Thr) SNV Uncertain significance 1035993 GRCh37: 9:138678250-138678250
GRCh38: 9:135786404-135786404
436 KCNT1 NM_020822.3(KCNT1):c.2195C>T (p.Ser732Leu) SNV Uncertain significance 1036350 GRCh37: 9:138664747-138664747
GRCh38: 9:135772901-135772901
437 SLC12A5 NM_020708.5(SLC12A5):c.2767A>G (p.Lys923Glu) SNV Uncertain significance 1036395 GRCh37: 20:44683642-44683642
GRCh38: 20:46055003-46055003
438 KCNT1 NM_020822.3(KCNT1):c.2455G>A (p.Val819Met) SNV Uncertain significance 1036562 GRCh37: 9:138669289-138669289
GRCh38: 9:135777443-135777443
439 KCNT1 NM_020822.3(KCNT1):c.3388G>T (p.Ala1130Ser) SNV Uncertain significance 1036885 GRCh37: 9:138678253-138678253
GRCh38: 9:135786407-135786407
440 KCNT1 NM_020822.3(KCNT1):c.1018G>A (p.Val340Met) SNV Uncertain significance 1037024 GRCh37: 9:138651688-138651688
GRCh38: 9:135759842-135759842
441 SLC12A5 NM_020708.5(SLC12A5):c.336T>G (p.Phe112Leu) SNV Uncertain significance 1038163 GRCh37: 20:44664472-44664472
GRCh38: 20:46035833-46035833
442 KCNT1 NM_020822.3(KCNT1):c.3616C>T (p.His1206Tyr) SNV Uncertain significance 1038198 GRCh37: 9:138683915-138683915
GRCh38: 9:135792069-135792069
443 KCNT1 NM_020822.3(KCNT1):c.2131G>A (p.Ala711Thr) SNV Uncertain significance 1038295 GRCh37: 9:138664683-138664683
GRCh38: 9:135772837-135772837
444 KCNT1 NM_020822.3(KCNT1):c.1685A>G (p.Tyr562Cys) SNV Uncertain significance 1038964 GRCh37: 9:138662209-138662209
GRCh38: 9:135770363-135770363
445 KCNT1 NM_020822.3(KCNT1):c.429C>A (p.Ile143=) SNV Uncertain significance 1039872 GRCh37: 9:138642882-138642882
GRCh38: 9:135751036-135751036
446 LOC113960611 , SLC12A5 NM_020708.5(SLC12A5):c.3325C>T (p.Arg1109Cys) SNV Uncertain significance 1039987 GRCh37: 20:44686218-44686218
GRCh38: 20:46057579-46057579
447 SLC12A5 NM_020708.5(SLC12A5):c.470G>A (p.Gly157Asp) SNV Uncertain significance 1040075 GRCh37: 20:44665423-44665423
GRCh38: 20:46036784-46036784
448 KCNT1 NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) SNV Uncertain significance 810472 rs1023136319 GRCh37: 9:138671273-138671273
GRCh38: 9:135779427-135779427
449 KCNT1 NM_020822.3(KCNT1):c.1770G>A (p.Lys590=) SNV Uncertain significance 1040246 GRCh37: 9:138662703-138662703
GRCh38: 9:135770857-135770857
450 SLC12A5 NM_020708.5(SLC12A5):c.1850A>G (p.Tyr617Cys) SNV Uncertain significance 1040629 GRCh37: 20:44676155-44676155
GRCh38: 20:46047516-46047516
451 SLC12A5 NM_020708.5(SLC12A5):c.1619T>C (p.Leu540Pro) SNV Uncertain significance 1040827 GRCh37: 20:44674566-44674566
GRCh38: 20:46045927-46045927
452 SLC12A5 NM_020708.5(SLC12A5):c.3242G>A (p.Arg1081His) SNV Uncertain significance 1040942 GRCh37: 20:44685925-44685925
GRCh38: 20:46057286-46057286
453 KCNT1 NM_020822.3(KCNT1):c.3232C>T (p.Pro1078Ser) SNV Uncertain significance 1041701 GRCh37: 9:138678097-138678097
GRCh38: 9:135786251-135786251
454 KCNT1 NM_020822.3(KCNT1):c.3571G>A (p.Glu1191Lys) SNV Uncertain significance 1042065 GRCh37: 9:138683711-138683711
GRCh38: 9:135791865-135791865
455 KCNT1 NM_020822.3(KCNT1):c.434G>A (p.Cys145Tyr) SNV Uncertain significance 1042159 GRCh37: 9:138642887-138642887
GRCh38: 9:135751041-135751041
456 KCNT1 NM_020822.3(KCNT1):c.3017A>C (p.Tyr1006Ser) SNV Uncertain significance 1042162 GRCh37: 9:138676454-138676454
GRCh38: 9:135784608-135784608
457 SLC12A5 NM_020708.5(SLC12A5):c.1768C>T (p.Arg590Cys) SNV Uncertain significance 1042267 GRCh37: 20:44675056-44675056
GRCh38: 20:46046417-46046417
458 KCNT1 NM_020822.3(KCNT1):c.2729+5G>A SNV Uncertain significance 1042702 GRCh37: 9:138670673-138670673
GRCh38: 9:135778827-135778827
459 KCNT1 NM_020822.3(KCNT1):c.3445C>T (p.Leu1149Phe) SNV Uncertain significance 1042722 GRCh37: 9:138678310-138678310
GRCh38: 9:135786464-135786464
460 SLC12A5 NM_020708.5(SLC12A5):c.3143G>A (p.Arg1048Gln) SNV Uncertain significance 1042764 GRCh37: 20:44685826-44685826
GRCh38: 20:46057187-46057187
461 KCNT1 NM_020822.3(KCNT1):c.1862C>A (p.Thr621Asn) SNV Uncertain significance 1043206 GRCh37: 9:138662795-138662795
GRCh38: 9:135770949-135770949
462 SLC12A5 NM_020708.5(SLC12A5):c.2860A>G (p.Asn954Asp) SNV Uncertain significance 1043362 GRCh37: 20:44684861-44684861
GRCh38: 20:46056222-46056222
463 KCNT1 NM_020822.3(KCNT1):c.2102A>G (p.Asn701Ser) SNV Uncertain significance 1043715 GRCh37: 9:138664654-138664654
GRCh38: 9:135772808-135772808
464 KCNT1 NM_020822.3(KCNT1):c.886G>A (p.Gly296Ser) SNV Uncertain significance 1043814 GRCh37: 9:138651556-138651556
GRCh38: 9:135759710-135759710
465 SLC12A5 NM_020708.5(SLC12A5):c.1024G>A (p.Glu342Lys) SNV Uncertain significance 1044162 GRCh37: 20:44670137-44670137
GRCh38: 20:46041498-46041498
466 KCNT1 NM_020822.3(KCNT1):c.3502+2dup Duplication Uncertain significance 1044458 GRCh37: 9:138678368-138678369
GRCh38: 9:135786522-135786523
467 SLC12A5 NM_020708.5(SLC12A5):c.1132G>A (p.Gly378Ser) SNV Uncertain significance 1044977 GRCh37: 20:44671857-44671857
GRCh38: 20:46043218-46043218
468 SLC12A5 NM_020708.5(SLC12A5):c.1904G>A (p.Arg635His) SNV Uncertain significance 1045464 GRCh37: 20:44676209-44676209
GRCh38: 20:46047570-46047570
469 KCNT1 NM_020822.3(KCNT1):c.35dup (p.Val13fs) Duplication Uncertain significance 1045803 GRCh37: 9:138594133-138594134
GRCh38: 9:135702287-135702288
470 SLC12A5 NM_020708.5(SLC12A5):c.2431G>A (p.Val811Ile) SNV Uncertain significance 1046140 GRCh37: 20:44681649-44681649
GRCh38: 20:46053010-46053010
471 KCNT1 NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile) SNV Uncertain significance 435563 rs760000324 GRCh37: 9:138676718-138676718
GRCh38: 9:135784872-135784872
472 KCNT1 NM_020822.3(KCNT1):c.2452A>G (p.Ile818Val) SNV Uncertain significance 1046318 GRCh37: 9:138669286-138669286
GRCh38: 9:135777440-135777440
473 SLC12A5 NM_020708.5(SLC12A5):c.2639A>G (p.Tyr880Cys) SNV Uncertain significance 1046461 GRCh37: 20:44682308-44682308
GRCh38: 20:46053669-46053669
474 KCNT1 NM_020822.3(KCNT1):c.11C>G (p.Pro4Arg) SNV Uncertain significance 1046530 GRCh37: 9:138594115-138594115
GRCh38: 9:135702269-135702269
475 KCNT1 NM_020822.3(KCNT1):c.1797G>T (p.Lys599Asn) SNV Uncertain significance 1046532 GRCh37: 9:138662730-138662730
GRCh38: 9:135770884-135770884
476 SLC12A5 NM_020708.5(SLC12A5):c.2750A>G (p.Lys917Arg) SNV Uncertain significance 1046854 GRCh37: 20:44683625-44683625
GRCh38: 20:46054986-46054986
477 KCNT1 NM_020822.3(KCNT1):c.1465G>A (p.Val489Ile) SNV Uncertain significance 1047050 GRCh37: 9:138660738-138660738
GRCh38: 9:135768892-135768892
478 KCNT1 NM_020822.3(KCNT1):c.3525C>G (p.Asn1175Lys) SNV Uncertain significance 1047278 GRCh37: 9:138683665-138683665
GRCh38: 9:135791819-135791819
479 SLC12A5 NM_020708.5(SLC12A5):c.3173_3175del (p.Glu1058del) Deletion Uncertain significance 1047286 GRCh37: 20:44685855-44685857
GRCh38: 20:46057216-46057218
480 SLC12A5 NM_020708.5(SLC12A5):c.272C>T (p.Pro91Leu) SNV Uncertain significance 653115 rs1436913904 GRCh37: 20:44664167-44664167
GRCh38: 20:46035528-46035528
481 KCNT1 NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp) SNV Uncertain significance 654363 rs763400879 GRCh37: 9:138678241-138678241
GRCh38: 9:135786395-135786395
482 KCNT1 NM_020822.3(KCNT1):c.3185T>C (p.Ile1062Thr) SNV Uncertain significance 655279 rs1588407407 GRCh37: 9:138678050-138678050
GRCh38: 9:135786204-135786204
483 KCNT1 NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly) SNV Uncertain significance 834105 GRCh37: 9:138664753-138664753
GRCh38: 9:135772907-135772907
484 KCNT1 NM_020822.3(KCNT1):c.3027+1G>A SNV Uncertain significance 834155 GRCh37: 9:138676465-138676465
GRCh38: 9:135784619-135784619
485 KCNT1 NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val) SNV Uncertain significance 834844 GRCh37: 9:138656944-138656944
GRCh38: 9:135765098-135765098
486 KCNT1 NM_020822.3(KCNT1):c.1192C>T (p.Arg398Trp) SNV Uncertain significance 835730 GRCh37: 9:138657033-138657033
GRCh38: 9:135765187-135765187
487 KCNT1 NM_020822.3(KCNT1):c.34G>A (p.Gly12Ser) SNV Uncertain significance 836634 GRCh37: 9:138594138-138594138
GRCh38: 9:135702292-135702292
488 KCNT1 NM_020822.3(KCNT1):c.3177_3177+22dup Duplication Uncertain significance 841877 GRCh37: 9:138677170-138677171
GRCh38: 9:135785324-135785325
489 SLC12A5 NM_020708.5(SLC12A5):c.723G>A (p.Met241Ile) SNV Uncertain significance 844044 GRCh37: 20:44669122-44669122
GRCh38: 20:46040483-46040483
490 SLC12A5 NM_020708.5(SLC12A5):c.1975C>T (p.Arg659Cys) SNV Uncertain significance 844583 GRCh37: 20:44676687-44676687
GRCh38: 20:46048048-46048048
491 KCNT1 NM_020822.3(KCNT1):c.2555G>T (p.Cys852Phe) SNV Uncertain significance 844835 GRCh37: 9:138670302-138670302
GRCh38: 9:135778456-135778456
492 SLC12A5 NM_020708.5(SLC12A5):c.401G>A (p.Cys134Tyr) SNV Uncertain significance 847847 GRCh37: 20:44664537-44664537
GRCh38: 20:46035898-46035898
493 KCNT1 NM_020822.3(KCNT1):c.675G>A (p.Thr225=) SNV Uncertain significance 589846 rs773255063 GRCh37: 9:138649076-138649076
GRCh38: 9:135757230-135757230
494 SLC12A5 NM_020708.5(SLC12A5):c.3250G>A (p.Asp1084Asn) SNV Uncertain significance 849635 GRCh37: 20:44685933-44685933
GRCh38: 20:46057294-46057294
495 SLC12A5 NM_020708.5(SLC12A5):c.1237+6G>A SNV Uncertain significance 851769 GRCh37: 20:44671968-44671968
GRCh38: 20:46043329-46043329
496 SLC12A5 NM_020708.5(SLC12A5):c.851T>G (p.Phe284Cys) SNV Uncertain significance 475660 rs1213597825 GRCh37: 20:44669250-44669250
GRCh38: 20:46040611-46040611
497 KCNT1 NM_020822.3(KCNT1):c.3341G>A (p.Arg1114Gln) SNV Uncertain significance 473387 rs758311066 GRCh37: 9:138678206-138678206
GRCh38: 9:135786360-135786360
498 KCNT1 NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) SNV Uncertain significance 473384 rs373041291 GRCh37: 9:138678146-138678146
GRCh38: 9:135786300-135786300
499 SLC12A5 NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=) SNV Uncertain significance 475649 rs201525976 GRCh37: 20:44680508-44680508
GRCh38: 20:46051869-46051869
500 KCNT1 NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) SNV Uncertain significance 418274 rs575162600 GRCh37: 9:138662242-138662242
GRCh38: 9:135770396-135770396
501 SLC12A5 NM_020708.5(SLC12A5):c.3126-6C>A SNV Uncertain significance 542314 rs372120376 GRCh37: 20:44685803-44685803
GRCh38: 20:46057164-46057164
502 TBC1D24 NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) SNV Uncertain significance 207512 rs776176742 GRCh37: 16:2549882-2549882
GRCh38: 16:2499881-2499881
503 KCNT1 NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile) SNV Uncertain significance 567928 rs1402206752 GRCh37: 9:138642838-138642838
GRCh38: 9:135750992-135750992
504 SLC12A5 NM_020708.5(SLC12A5):c.52G>A (p.Gly18Ser) SNV Uncertain significance 568366 rs1399171674 GRCh37: 20:44658035-44658035
GRCh38: 20:46029396-46029396
505 SLC12A5 NM_020708.5(SLC12A5):c.947G>A (p.Arg316Gln) SNV Uncertain significance 577701 rs144471748 GRCh37: 20:44670060-44670060
GRCh38: 20:46041421-46041421
506 SLC12A5 NM_020708.5(SLC12A5):c.18G>A (p.Thr6=) SNV Uncertain significance 578837 rs1193496783 GRCh37: 20:44658001-44658001
GRCh38: 20:46029362-46029362
507 SLC12A5 NM_020708.5(SLC12A5):c.1060A>G (p.Ile354Val) SNV Uncertain significance 580228 rs961067707 GRCh37: 20:44670173-44670173
GRCh38: 20:46041534-46041534
508 KCNT1 NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) SNV Uncertain significance 642169 rs375749415 GRCh37: 9:138676731-138676731
GRCh38: 9:135784885-135784885
509 KCNT1 NM_020822.3(KCNT1):c.110+1G>C SNV Uncertain significance 642324 rs780331569 GRCh37: 9:138594215-138594215
GRCh38: 9:135702369-135702369
510 SLC12A5 NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val) SNV Uncertain significance 542315 rs140326431 GRCh37: 20:44672340-44672340
GRCh38: 20:46043701-46043701
511 KCNT1 NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) SNV Uncertain significance 412318 rs779961735 GRCh37: 9:138676679-138676679
GRCh38: 9:135784833-135784833
512 LOC113960611 , SLC12A5 NM_020708.5(SLC12A5):c.3260-3C>A SNV Uncertain significance 475655 rs762852631 GRCh37: 20:44686150-44686150
GRCh38: 20:46057511-46057511
513 KCNT1 NM_020822.3(KCNT1):c.909_910delinsGA (p.Ser304Thr) Indel Uncertain significance 412317 rs1060503697 GRCh37: 9:138651579-138651580
GRCh38: 9:135759733-135759734
514 SLC12A5 NM_020708.5(SLC12A5):c.2041G>A (p.Asp681Asn) SNV Uncertain significance 853906 GRCh37: 20:44678289-44678289
GRCh38: 20:46049650-46049650
515 KCNT1 NM_020822.3(KCNT1):c.3529C>G (p.Leu1177Val) SNV Uncertain significance 855879 GRCh37: 9:138683669-138683669
GRCh38: 9:135791823-135791823
516 SLC12A5 NM_020708.5(SLC12A5):c.2984G>C (p.Gly995Ala) SNV Uncertain significance 859205 GRCh37: 20:44685077-44685077
GRCh38: 20:46056438-46056438
517 SLC12A5 NM_020708.5(SLC12A5):c.961T>C (p.Phe321Leu) SNV Uncertain significance 689788 rs1600595577 GRCh37: 20:44670074-44670074
GRCh38: 20:46041435-46041435
518 SLC12A5 NM_020708.5(SLC12A5):c.2933G>A (p.Ser978Asn) SNV Uncertain significance 568090 rs1216388861 GRCh37: 20:44685026-44685026
GRCh38: 20:46056387-46056387
519 SLC12A5 NM_020708.5(SLC12A5):c.1156G>A (p.Asp386Asn) SNV Uncertain significance 570583 rs200798560 GRCh37: 20:44671881-44671881
GRCh38: 20:46043242-46043242
520 KCNT1 NM_020822.3(KCNT1):c.3619G>A (p.Val1207Met) SNV Uncertain significance 571900 rs766339368 GRCh37: 9:138683918-138683918
GRCh38: 9:135792072-135792072
521 KCNT1 NM_020822.3(KCNT1):c.626G>A (p.Arg209His) SNV Uncertain significance 574245 rs756952430 GRCh37: 9:138649027-138649027
GRCh38: 9:135757181-135757181
522 KCNT1 NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) SNV Uncertain significance 575241 GRCh37: 9:138675924-138675924
GRCh38: 9:135784078-135784078
523 KCNT1 NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met) SNV Uncertain significance 582792 rs553389226 GRCh37: 9:138678061-138678061
GRCh38: 9:135786215-135786215
524 SLC12A5 NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val) SNV Uncertain significance 542315 rs140326431 GRCh37: 20:44672340-44672340
GRCh38: 20:46043701-46043701
525 SLC12A5 NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) SNV Uncertain significance 542320 rs200191107 GRCh37: 20:44681657-44681657
GRCh38: 20:46053018-46053018
526 SLC12A5 NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) SNV Uncertain significance 475651 rs201268862 GRCh37: 20:44681670-44681670
GRCh38: 20:46053031-46053031
527 LOC113960611 , SLC12A5 NM_020708.5(SLC12A5):c.3260-3C>A SNV Uncertain significance 475655 rs762852631 GRCh37: 20:44686150-44686150
GRCh38: 20:46057511-46057511
528 TBC1D24 NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) SNV Uncertain significance 207506 rs375307187 GRCh37: 16:2547020-2547020
GRCh38: 16:2497019-2497019
529 TBC1D24 NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) SNV Uncertain significance 207519 rs199700840 GRCh37: 16:2547027-2547027
GRCh38: 16:2497026-2497026
530 KCNT1 NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) SNV Uncertain significance 374646 rs146193090 GRCh37: 9:138683990-138683990
GRCh38: 9:135792144-135792144
531 TBC1D24 NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) SNV Uncertain significance 626176 rs370477379 GRCh37: 16:2546883-2546883
GRCh38: 16:2496882-2496882
532 SLC12A5 NM_020708.5(SLC12A5):c.1395-3C>T SNV Uncertain significance 640703 rs760459724 GRCh37: 20:44673602-44673602
GRCh38: 20:46044963-46044963
533 SLC12A5 NM_020708.5(SLC12A5):c.286C>T (p.Arg96Cys) SNV Uncertain significance 642504 rs145700012 GRCh37: 20:44664422-44664422
GRCh38: 20:46035783-46035783
534 SLC12A5 NM_020708.5(SLC12A5):c.3199G>A (p.Ala1067Thr) SNV Uncertain significance 643997 rs1600607907 GRCh37: 20:44685882-44685882
GRCh38: 20:46057243-46057243
535 SLC12A5 NM_020708.5(SLC12A5):c.2787+3G>A SNV Uncertain significance 648025 rs372923917 GRCh37: 20:44683665-44683665
GRCh38: 20:46055026-46055026
536 SLC12A5 NM_020708.5(SLC12A5):c.2665G>A (p.Glu889Lys) SNV Uncertain significance 651025 rs565709821 GRCh37: 20:44682334-44682334
GRCh38: 20:46053695-46053695
537 SLC12A5 NM_020708.5(SLC12A5):c.2360C>T (p.Thr787Met) SNV Uncertain significance 654413 rs901985864 GRCh37: 20:44680492-44680492
GRCh38: 20:46051853-46051853
538 SLC12A5 NM_020708.5(SLC12A5):c.464C>T (p.Thr155Met) SNV Uncertain significance 857432 GRCh37: 20:44665417-44665417
GRCh38: 20:46036778-46036778
539 SLC12A5 NM_020708.5(SLC12A5):c.1447T>C (p.Ser483Pro) SNV Uncertain significance 857978 GRCh37: 20:44673657-44673657
GRCh38: 20:46045018-46045018
540 KCNT1 NM_020822.3(KCNT1):c.1510+3G>A SNV Uncertain significance 858514 GRCh37: 9:138660786-138660786
GRCh38: 9:135768940-135768940
541 KCNT1 NM_020822.3(KCNT1):c.2978G>A (p.Arg993Gln) SNV Uncertain significance 859000 GRCh37: 9:138676415-138676415
GRCh38: 9:135784569-135784569
542 KCNT1 NM_020822.3(KCNT1):c.999C>G (p.Ile333Met) SNV Uncertain significance 859365 GRCh37: 9:138651669-138651669
GRCh38: 9:135759823-135759823
543 KCNT1 NM_020822.3(KCNT1):c.1745A>G (p.Tyr582Cys) SNV Uncertain significance 860359 GRCh37: 9:138662269-138662269
GRCh38: 9:135770423-135770423
544 SLC12A5 NM_020708.5(SLC12A5):c.298T>A (p.Phe100Ile) SNV Uncertain significance 861587 GRCh37: 20:44664434-44664434
GRCh38: 20:46035795-46035795
545 KCNT1 NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr) SNV Uncertain significance 864705 GRCh37: 9:138650275-138650275
GRCh38: 9:135758429-135758429
546 KCNT1 NM_020822.3(KCNT1):c.1687C>T (p.His563Tyr) SNV Uncertain significance 834499 GRCh37: 9:138662211-138662211
GRCh38: 9:135770365-135770365
547 SLC12A5 NM_020708.5(SLC12A5):c.958C>T (p.Leu320Phe) SNV Uncertain significance 835089 GRCh37: 20:44670071-44670071
GRCh38: 20:46041432-46041432
548 SLC12A5 NM_020708.5(SLC12A5):c.1374G>A (p.Glu458=) SNV Uncertain significance 835384 GRCh37: 20:44672552-44672552
GRCh38: 20:46043913-46043913
549 KCNT1 NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) SNV Uncertain significance 589059 rs571757257 GRCh37: 9:138662771-138662771
GRCh38: 9:135770925-135770925
550 KCNT1 NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His) SNV Uncertain significance 838861 GRCh37: 9:138677157-138677157
GRCh38: 9:135785311-135785311
551 KCNT1 NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu) SNV Uncertain significance 420774 rs974652934 GRCh37: 9:138670592-138670592
GRCh38: 9:135778746-135778746
552 KCNT1 NM_020822.3(KCNT1):c.2068G>A (p.Gly690Ser) SNV Uncertain significance 842952 GRCh37: 9:138664620-138664620
GRCh38: 9:135772774-135772774
553 KCNT1 NM_020822.3(KCNT1):c.3494C>T (p.Thr1165Ile) SNV Uncertain significance 846898 GRCh37: 9:138678359-138678359
GRCh38: 9:135786513-135786513
554 KCNT1 NM_020822.3(KCNT1):c.2009-2A>G SNV Uncertain significance 847611 GRCh37: 9:138664559-138664559
GRCh38: 9:135772713-135772713
555 KCNT1 NM_020822.3(KCNT1):c.2137G>A (p.Val713Ile) SNV Uncertain significance 847699 GRCh37: 9:138664689-138664689
GRCh38: 9:135772843-135772843
556 KCNT1 NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn) SNV Uncertain significance 804966 rs762752381 GRCh37: 9:138656991-138656991
GRCh38: 9:135765145-135765145
557 KCNT1 NM_020822.3(KCNT1):c.3561C>A (p.Asp1187Glu) SNV Uncertain significance 854637 GRCh37: 9:138683701-138683701
GRCh38: 9:135791855-135791855
558 SLC12A5 NM_020708.5(SLC12A5):c.287G>A (p.Arg96His) SNV Uncertain significance 855278 GRCh37: 20:44664423-44664423
GRCh38: 20:46035784-46035784
559 SLC12A5 NM_020708.5(SLC12A5):c.563C>A (p.Thr188Asn) SNV Uncertain significance 1051233 GRCh37: 20:44665975-44665975
GRCh38: 20:46037336-46037336
560 SLC12A5 NM_020708.5(SLC12A5):c.3091G>C (p.Asp1031His) SNV Uncertain significance 1052598 GRCh37: 20:44685184-44685184
GRCh38: 20:46056545-46056545
561 KCNT1 NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile) SNV Uncertain significance 989244 GRCh37: 9:138676728-138676728
GRCh38: 9:135784882-135784882
562 SLC12A5 NM_020708.5(SLC12A5):c.2511G>T (p.Met837Ile) SNV Uncertain significance 1054421 GRCh37: 20:44681729-44681729
GRCh38: 20:46053090-46053090
563 overlap with 79 genes NC_000009.11:g.(?_138645763)_(140729425_?)del Deletion Uncertain significance 831360 GRCh37: 9:138645763-140729425
GRCh38:
564 SLC12A5 NM_020708.5(SLC12A5):c.326A>G (p.Gln109Arg) SNV Uncertain significance 1054566 GRCh37: 20:44664462-44664462
GRCh38: 20:46035823-46035823
565 KCNT1 NM_020822.3(KCNT1):c.3508A>G (p.Met1170Val) SNV Uncertain significance 1054648 GRCh37: 9:138683648-138683648
GRCh38: 9:135791802-135791802
566 SLC12A5 NM_020708.5(SLC12A5):c.2105A>G (p.Lys702Arg) SNV Uncertain significance 546899 rs1555866427 GRCh37: 20:44678353-44678353
GRCh38: 20:46049714-46049714
567 KCNT1 NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) SNV Uncertain significance 810469 rs1156662870 GRCh37: 9:138664611-138664611
GRCh38: 9:135772765-135772765
568 KCNT1 NM_020822.3(KCNT1):c.2500A>G (p.Ile834Val) SNV Uncertain significance 1057152 GRCh37: 9:138669334-138669334
GRCh38: 9:135777488-135777488
569 SLC12A5 NM_020708.5(SLC12A5):c.3110C>T (p.Pro1037Leu) SNV Uncertain significance 1058068 GRCh37: 20:44685203-44685203
GRCh38: 20:46056564-46056564
570 KCNT1 NM_020822.3(KCNT1):c.3418C>A (p.Leu1140Met) SNV Uncertain significance 1059641 GRCh37: 9:138678283-138678283
GRCh38: 9:135786437-135786437
571 KCNT1 NM_020822.3(KCNT1):c.52C>T (p.Arg18Cys) SNV Uncertain significance 1060591 GRCh37: 9:138594156-138594156
GRCh38: 9:135702310-135702310
572 KCNT1 NM_020822.3(KCNT1):c.553A>G (p.Ile185Val) SNV Uncertain significance 1061295 GRCh37: 9:138648731-138648731
GRCh38: 9:135756885-135756885
573 SLC12A5 NM_020708.5(SLC12A5):c.1161G>A (p.Met387Ile) SNV Uncertain significance 1062757 GRCh37: 20:44671886-44671886
GRCh38: 20:46043247-46043247
574 KCNT1 NM_020822.3(KCNT1):c.1615G>A (p.Gly539Ser) SNV Uncertain significance 1062786 GRCh37: 9:138661897-138661897
GRCh38: 9:135770051-135770051
575 KCNT1 NM_020822.3(KCNT1):c.2912G>C (p.Ser971Thr) SNV Uncertain significance 1062925 GRCh37: 9:138675940-138675940
GRCh38: 9:135784094-135784094
576 KCNT1 NM_020822.3(KCNT1):c.3173C>T (p.Ala1058Val) SNV Uncertain significance 1064328 GRCh37: 9:138677172-138677172
GRCh38: 9:135785326-135785326
577 KCNT1 NC_000009.11:g.(?_138651496)_(138651725_?)dup Duplication Uncertain significance 583735 GRCh37: 9:138651496-138651725
GRCh38: 9:135759650-135759879
578 KCNT1 NC_000009.12:g.(?_135775290)_(135788182_?)del Deletion Uncertain significance 583754 GRCh37: 9:138667136-138680028
GRCh38: 9:135775290-135788182
579 SLC12A5 NM_020708.5(SLC12A5):c.3131A>T (p.Gln1044Leu) SNV Uncertain significance 934752 GRCh37: 20:44685814-44685814
GRCh38: 20:46057175-46057175
580 KCNT1 NM_020822.3(KCNT1):c.3245G>A (p.Arg1082His) SNV Uncertain significance 451138 rs760151844 GRCh37: 9:138678110-138678110
GRCh38: 9:135786264-135786264
581 KCNT1 NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp) SNV Uncertain significance 872153 GRCh37: 9:138678082-138678082
GRCh38: 9:135786236-135786236
582 KCNT1 NM_020822.3(KCNT1):c.627C>T (p.Arg209=) SNV Uncertain significance 946245 GRCh37: 9:138649028-138649028
GRCh38: 9:135757182-135757182
583 KCNT1 NM_020822.3(KCNT1):c.3050T>G (p.Leu1017Arg) SNV Uncertain significance 947170 GRCh37: 9:138676629-138676629
GRCh38: 9:135784783-135784783
584 KCNT1 NM_020822.3(KCNT1):c.430G>A (p.Gly144Arg) SNV Uncertain significance 955047 GRCh37: 9:138642883-138642883
GRCh38: 9:135751037-135751037
585 KCNT1 NM_020822.3(KCNT1):c.2204_2206del (p.Glu735del) Deletion Uncertain significance 960038 GRCh37: 9:138664755-138664757
GRCh38: 9:135772909-135772911
586 SLC12A5 NM_020708.5(SLC12A5):c.86T>C (p.Ile29Thr) SNV Uncertain significance 960385 GRCh37: 20:44663620-44663620
GRCh38: 20:46034981-46034981
587 SLC12A5 NM_020708.5(SLC12A5):c.1416C>T (p.Gly472=) SNV Uncertain significance 960660 GRCh37: 20:44673626-44673626
GRCh38: 20:46044987-46044987
588 SLC12A5 NM_020708.5(SLC12A5):c.1570-6C>T SNV Uncertain significance 961332 GRCh37: 20:44674511-44674511
GRCh38: 20:46045872-46045872
589 SLC12A5 NM_020708.5(SLC12A5):c.2252G>A (p.Arg751His) SNV Uncertain significance 961333 GRCh37: 20:44680384-44680384
GRCh38: 20:46051745-46051745
590 KCNT1 NM_020822.3(KCNT1):c.1678G>A (p.Glu560Lys) SNV Uncertain significance 963250 GRCh37: 9:138662202-138662202
GRCh38: 9:135770356-135770356
591 SLC12A5 NM_020708.5(SLC12A5):c.1072C>G (p.Leu358Val) SNV Uncertain significance 969021 GRCh37: 20:44671797-44671797
GRCh38: 20:46043158-46043158
592 KCNT1 NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) SNV Likely benign 129358 rs149804567 GRCh37: 9:138670290-138670290
GRCh38: 9:135778444-135778444
593 KCNT1 NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) SNV Likely benign 451447 rs537722828 GRCh37: 9:138660680-138660680
GRCh38: 9:135768834-135768834
594 KCNT1 NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) SNV Likely benign 129358 rs149804567 GRCh37: 9:138670290-138670290
GRCh38: 9:135778444-135778444
595 KCNT1 NM_020822.3(KCNT1):c.1769+8C>T SNV Likely benign 473362 rs371287985 GRCh37: 9:138662301-138662301
GRCh38: 9:135770455-135770455
596 SLC12A5 NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) SNV Likely benign 542320 rs200191107 GRCh37: 20:44681657-44681657
GRCh38: 20:46053018-46053018
597 KCNT1 NM_020822.3(KCNT1):c.3622G>A (p.Ala1208Thr) SNV Likely benign 574982 rs1564402008 GRCh37: 9:138683921-138683921
GRCh38: 9:135792075-135792075
598 KCNT1 NM_020822.3(KCNT1):c.335-5C>T SNV Likely benign 702748 rs745658927 GRCh37: 9:138642783-138642783
GRCh38: 9:135750937-135750937
599 SLC12A5 NM_020708.5(SLC12A5):c.2499C>T (p.His833=) SNV Likely benign 771248 rs371925559 GRCh37: 20:44681717-44681717
GRCh38: 20:46053078-46053078
600 SLC12A5 NM_020708.5(SLC12A5):c.699C>T (p.Tyr233=) SNV Likely benign 771284 rs200570265 GRCh37: 20:44669098-44669098
GRCh38: 20:46040459-46040459
601 SLC12A5 NM_020708.5(SLC12A5):c.2013-10C>T SNV Likely benign 772339 rs374272959 GRCh37: 20:44678251-44678251
GRCh38: 20:46049612-46049612
602 SLC12A5 NM_020708.5(SLC12A5):c.36T>C (p.Asp12=) SNV Likely benign 772462 rs998267168 GRCh37: 20:44658019-44658019
GRCh38: 20:46029380-46029380
603 SLC12A5 NM_020708.5(SLC12A5):c.93C>T (p.Ser31=) SNV Likely benign 774109 rs145033801 GRCh37: 20:44663627-44663627
GRCh38: 20:46034988-46034988
604 SLC12A5 NM_020708.5(SLC12A5):c.339C>T (p.Gly113=) SNV Likely benign 783235 rs145327140 GRCh37: 20:44664475-44664475
GRCh38: 20:46035836-46035836
605 SLC12A5 NM_020708.5(SLC12A5):c.2430C>T (p.Asn810=) SNV Likely benign 784804 rs540937956 GRCh37: 20:44681648-44681648
GRCh38: 20:46053009-46053009
606 SLC12A5 NM_020708.5(SLC12A5):c.1936C>A (p.Arg646=) SNV Likely benign 797258 rs771263913 GRCh37: 20:44676648-44676648
GRCh38: 20:46048009-46048009
607 SLC12A5 NM_020708.5(SLC12A5):c.1485C>T (p.Thr495=) SNV Likely benign 799980 rs748652503 GRCh37: 20:44673695-44673695
GRCh38: 20:46045056-46045056
608 SLC12A5 NM_020708.5(SLC12A5):c.2760T>C (p.His920=) SNV Likely benign 800044 rs1600605834 GRCh37: 20:44683635-44683635
GRCh38: 20:46054996-46054996
609 KCNT1 NM_020822.3(KCNT1):c.645G>A (p.Glu215=) SNV Likely benign 705882 rs1233969286 GRCh37: 9:138649046-138649046
GRCh38: 9:135757200-135757200
610 KCNT1 NM_020822.3(KCNT1):c.1053C>T (p.Tyr351=) SNV Likely benign 706946 rs973806258 GRCh37: 9:138656894-138656894
GRCh38: 9:135765048-135765048
611 SLC12A5 NM_020708.5(SLC12A5):c.2967A>G (p.Pro989=) SNV Likely benign 710155 rs1441127714 GRCh37: 20:44685060-44685060
GRCh38: 20:46056421-46056421
612 SLC12A5 NM_020708.5(SLC12A5):c.2481C>T (p.Asp827=) SNV Likely benign 716574 rs368618520 GRCh37: 20:44681699-44681699
GRCh38: 20:46053060-46053060
613 SLC12A5 NM_020708.5(SLC12A5):c.1308C>T (p.Ile436=) SNV Likely benign 717489 rs1366527252 GRCh37: 20:44672342-44672342
GRCh38: 20:46043703-46043703
614 SLC12A5 NM_020708.5(SLC12A5):c.879G>A (p.Thr293=) SNV Likely benign 721763 rs138406290 GRCh37: 20:44669992-44669992
GRCh38: 20:46041353-46041353
615 SLC12A5 NM_020708.5(SLC12A5):c.946C>A (p.Arg316=) SNV Likely benign 722557 rs373725781 GRCh37: 20:44670059-44670059
GRCh38: 20:46041420-46041420
616 KCNT1 NM_020822.3(KCNT1):c.54C>G (p.Arg18=) SNV Likely benign 733208 rs754697766 GRCh37: 9:138594158-138594158
GRCh38: 9:135702312-135702312
617 KCNT1 NM_020822.3(KCNT1):c.1575G>A (p.Ala525=) SNV Likely benign 733476 rs566045604 GRCh37: 9:138661857-138661857
GRCh38: 9:135770011-135770011
618 SLC12A5 NM_020708.5(SLC12A5):c.1941T>G (p.Gly647=) SNV Likely benign 735751 rs148489203 GRCh37: 20:44676653-44676653
GRCh38: 20:46048014-46048014
619 KCNT1 NM_020822.3(KCNT1):c.300G>A (p.Arg100=) SNV Likely benign 737129 rs762249620 GRCh37: 9:138641989-138641989
GRCh38: 9:135750143-135750143
620 KCNT1 NM_020822.3(KCNT1):c.111-8G>A SNV Likely benign 742109 rs779128853 GRCh37: 9:138606415-138606415
GRCh38: 9:135714569-135714569
621 SLC12A5 NM_020708.5(SLC12A5):c.2377+10T>C SNV Likely benign 743251 rs369281155 GRCh37: 20:44680519-44680519
GRCh38: 20:46051880-46051880
622 SLC12A5 NM_020708.5(SLC12A5):c.984C>T (p.Asn328=) SNV Likely benign 745985 rs754526924 GRCh37: 20:44670097-44670097
GRCh38: 20:46041458-46041458
623 SLC12A5 NM_020708.5(SLC12A5):c.2548-5_2548-4delinsCT Indel Likely benign 747421 rs1600604943 GRCh37: 20:44682212-44682213
GRCh38: 20:46053573-46053574
624 SLC12A5 NM_020708.5(SLC12A5):c.42A>G (p.Gly14=) SNV Likely benign 749892 rs1464795415 GRCh37: 20:44658025-44658025
GRCh38: 20:46029386-46029386
625 SLC12A5 NM_020708.5(SLC12A5):c.1785C>T (p.His595=) SNV Likely benign 749942 rs1364638744 GRCh37: 20:44675073-44675073
GRCh38: 20:46046434-46046434
626 KCNT1 NM_020822.3(KCNT1):c.903C>T (p.Leu301=) SNV Likely benign 754559 rs1588330751 GRCh37: 9:138651573-138651573
GRCh38: 9:135759727-135759727
627 KCNT1 NM_020822.3(KCNT1):c.1890G>A (p.Glu630=) SNV Likely benign 756596 rs1326023054 GRCh37: 9:138662823-138662823
GRCh38: 9:135770977-135770977
628 SLC12A5 NM_020708.5(SLC12A5):c.1128G>A (p.Ser376=) SNV Likely benign 756943 rs6073997 GRCh37: 20:44671853-44671853
GRCh38: 20:46043214-46043214
629 SLC12A5 NM_020708.5(SLC12A5):c.900T>C (p.Asp300=) SNV Likely benign 757617 rs765877175 GRCh37: 20:44670013-44670013
GRCh38: 20:46041374-46041374
630 SLC12A5 NM_020708.5(SLC12A5):c.148-8C>T SNV Likely benign 758565 rs1413620669 GRCh37: 20:44664035-44664035
GRCh38: 20:46035396-46035396
631 SLC12A5 NM_020708.5(SLC12A5):c.1665C>T (p.Asp555=) SNV Likely benign 759065 rs377347592 GRCh37: 20:44674612-44674612
GRCh38: 20:46045973-46045973
632 SLC12A5 NM_020708.5(SLC12A5):c.2862C>T (p.Asn954=) SNV Likely benign 759854 rs754601939 GRCh37: 20:44684863-44684863
GRCh38: 20:46056224-46056224
633 KCNT1 NM_020822.3(KCNT1):c.2638C>T (p.Leu880=) SNV Likely benign 761211 rs1588384964 GRCh37: 9:138670577-138670577
GRCh38: 9:135778731-135778731
634 KCNT1 NM_020822.3(KCNT1):c.1851C>T (p.Ala617=) SNV Likely benign 765372 rs1275903338 GRCh37: 9:138662784-138662784
GRCh38: 9:135770938-135770938
635 SLC12A5 NM_020708.5(SLC12A5):c.1317C>T (p.Ile439=) SNV Likely benign 766970 rs10460627 GRCh37: 20:44672351-44672351
GRCh38: 20:46043712-46043712
636 KCNT1 NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu) SNV Likely benign 578357 rs1003586835 GRCh37: 9:138594136-138594136
GRCh38: 9:135702290-135702290
637 KCNT1 NM_020822.3(KCNT1):c.1952A>G (p.Gln651Arg) SNV Likely benign 581200 rs1022928641 GRCh37: 9:138662885-138662885
GRCh38: 9:135771039-135771039
638 KCNT1 NM_020822.3(KCNT1):c.335-4G>A SNV Likely benign 696423 rs372339395 GRCh37: 9:138642784-138642784
GRCh38: 9:135750938-135750938
639 KCNT1 NM_020822.3(KCNT1):c.240C>T (p.Phe80=) SNV Likely benign 696658 rs1554763398 GRCh37: 9:138606552-138606552
GRCh38: 9:135714706-135714706
640 KCNT1 NM_020822.3(KCNT1):c.585C>T (p.Ile195=) SNV Likely benign 590142 rs148910448 GRCh37: 9:138648763-138648763
GRCh38: 9:135756917-135756917
641 KCNT1 NM_020822.3(KCNT1):c.3247G>A (p.Ala1083Thr) SNV Likely benign 700066 rs917893164 GRCh37: 9:138678112-138678112
GRCh38: 9:135786266-135786266
642 KCNT1 NM_020822.3(KCNT1):c.1047C>T (p.Leu349=) SNV Likely benign 700312 rs370414453 GRCh37: 9:138656888-138656888
GRCh38: 9:135765042-135765042
643 KCNT1 NM_020822.3(KCNT1):c.2133G>A (p.Ala711=) SNV Likely benign 700848 rs755266973 GRCh37: 9:138664685-138664685
GRCh38: 9:135772839-135772839
644 KCNT1 NM_020822.3(KCNT1):c.2943+7G>A SNV Likely benign 700907 rs375869783 GRCh37: 9:138675978-138675978
GRCh38: 9:135784132-135784132
645 KCNT1 NM_020822.3(KCNT1):c.1209C>T (p.Tyr403=) SNV Likely benign 701373 rs374653926 GRCh37: 9:138657478-138657478
GRCh38: 9:135765632-135765632
646 KCNT1 NM_020822.3(KCNT1):c.2799C>T (p.Arg933=) SNV Likely benign 701520 rs551148089 GRCh37: 9:138671274-138671274
GRCh38: 9:135779428-135779428
647 KCNT1 NM_020822.3(KCNT1):c.62G>T (p.Gly21Val) SNV Likely benign 665175 rs368870705 GRCh37: 9:138594166-138594166
GRCh38: 9:135702320-135702320
648 KCNT1 NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=) SNV Likely benign 386463 rs373520472 GRCh37: 9:138662249-138662249
GRCh38: 9:135770403-135770403
649 KCNT1 NM_020822.3(KCNT1):c.3138C>T (p.His1046=) SNV Likely benign 417223 rs138533589 GRCh37: 9:138676717-138676717
GRCh38: 9:135784871-135784871
650 KCNT1 NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) SNV Likely benign 417209 rs1060505000 GRCh37: 9:138664582-138664582
GRCh38: 9:135772736-135772736
651 KCNT1 NM_020822.3(KCNT1):c.2997C>T (p.Asp999=) SNV Likely benign 241302 rs771951768 GRCh37: 9:138676434-138676434
GRCh38: 9:135784588-135784588
652 KCNT1 NM_020822.3(KCNT1):c.1572G>A (p.Pro524=) SNV Likely benign 540559 rs113333501 GRCh37: 9:138661854-138661854
GRCh38: 9:135770008-135770008
653 KCNT1 NM_020822.3(KCNT1):c.1201-5G>A SNV Likely benign 569526 rs766093946 GRCh37: 9:138657465-138657465
GRCh38: 9:135765619-135765619
654 KCNT1 NM_020822.3(KCNT1):c.1970C>T (p.Pro657Leu) SNV Likely benign 659548 rs566157365 GRCh37: 9:138662903-138662903
GRCh38: 9:135771057-135771057
655 KCNT1 NM_020822.3(KCNT1):c.3579T>A (p.Ser1193Arg) SNV Likely benign 948786 GRCh37: 9:138683719-138683719
GRCh38: 9:135791873-135791873
656 KCNT1 NM_020822.3(KCNT1):c.3400A>G (p.Ser1134Gly) SNV Likely benign 957501 GRCh37: 9:138678265-138678265
GRCh38: 9:135786419-135786419
657 KCNT1 NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr) SNV Likely benign 972644 GRCh37: 9:138683952-138683952
GRCh38: 9:135792106-135792106
658 KCNT1 NM_020822.3(KCNT1):c.867C>A (p.Ile289=) SNV Likely benign 290416 rs761045901 GRCh37: 9:138651537-138651537
GRCh38: 9:135759691-135759691
659 KCNT1 NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) SNV Likely benign 595530 rs141695705 GRCh37: 9:138676651-138676651
GRCh38: 9:135784805-135784805
660 KCNT1 NM_020822.3(KCNT1):c.2349+6G>T SNV Likely benign 833867 GRCh37: 9:138667267-138667267
GRCh38: 9:135775421-135775421
661 KCNT1 NM_020822.3(KCNT1):c.1653C>T (p.Arg551=) SNV Likely benign 833877 GRCh37: 9:138662177-138662177
GRCh38: 9:135770331-135770331
662 KCNT1 NM_020822.3(KCNT1):c.3260G>A (p.Gly1087Asp) SNV Likely benign 833881 GRCh37: 9:138678125-138678125
GRCh38: 9:135786279-135786279
663 KCNT1 NM_020822.3(KCNT1):c.1988A>G (p.His663Arg) SNV Likely benign 833935 GRCh37: 9:138662921-138662921
GRCh38: 9:135771075-135771075
664 KCNT1 NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=) SNV Likely benign 473389 rs372410150 GRCh37: 9:138678252-138678252
GRCh38: 9:135786406-135786406
665 KCNT1 NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=) SNV Likely benign 497985 rs1360446142 GRCh37: 9:138676675-138676675
GRCh38: 9:135784829-135784829
666 KCNT1 NM_020822.3(KCNT1):c.3502+1584G>A SNV Likely benign 802538 rs759235951 GRCh37: 9:138679951-138679951
GRCh38: 9:135788105-135788105
667 KCNT1 NM_020822.3(KCNT1):c.2087C>T (p.Ala696Val) SNV Likely benign 833557 GRCh37: 9:138664639-138664639
GRCh38: 9:135772793-135772793
668 KCNT1 NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn) SNV Likely benign 833602 GRCh37: 9:138670274-138670274
GRCh38: 9:135778428-135778428
669 KCNT1 NM_020822.3(KCNT1):c.55G>A (p.Gly19Ser) SNV Likely benign 833651 GRCh37: 9:138594159-138594159
GRCh38: 9:135702313-135702313
670 KCNT1 NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu) SNV Likely benign 833715 GRCh37: 9:138683684-138683684
GRCh38: 9:135791838-135791838
671 KCNT1 NM_020822.3(KCNT1):c.3521A>G (p.Gln1174Arg) SNV Likely benign 833735 GRCh37: 9:138683661-138683661
GRCh38: 9:135791815-135791815
672 KCNT1 NM_020822.3(KCNT1):c.1306G>A (p.Ala436Thr) SNV Likely benign 833804 GRCh37: 9:138657575-138657575
GRCh38: 9:135765729-135765729
673 KCNT1 NM_020822.3(KCNT1):c.3282G>A (p.Thr1094=) SNV Likely benign 833832 GRCh37: 9:138678147-138678147
GRCh38: 9:135786301-135786301
674 KCNT1 NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln) SNV Likely benign 375542 rs773621687 GRCh37: 9:138662732-138662732
GRCh38: 9:135770886-135770886
675 KCNT1 NM_020822.3(KCNT1):c.2008+8G>A SNV Likely benign 417219 rs759334176 GRCh37: 9:138662949-138662949
GRCh38: 9:135771103-135771103
676 KCNT1 NM_020822.3(KCNT1):c.1806C>T (p.Asp602=) SNV Likely benign 417222 rs1060505001 GRCh37: 9:138662739-138662739
GRCh38: 9:135770893-135770893
677 KCNT1 NM_020822.3(KCNT1):c.3461A>G (p.Lys1154Arg) SNV Likely benign 473391 rs779810960 GRCh37: 9:138678326-138678326
GRCh38: 9:135786480-135786480
678 KCNT1 NM_020822.3(KCNT1):c.2898C>T (p.Ala966=) SNV Likely benign 417216 rs762968242 GRCh37: 9:138675926-138675926
GRCh38: 9:135784080-135784080
679 KCNT1 NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys) SNV Likely benign 412312 rs754823810 GRCh37: 9:138594198-138594198
GRCh38: 9:135702352-135702352
680 KCNT1 NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val) SNV Likely benign 412314 rs777479133 GRCh37: 9:138667233-138667233
GRCh38: 9:135775387-135775387
681 KCNT1 NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) SNV Likely benign 224110 rs869312682 GRCh37: 9:138606448-138606448
GRCh38: 9:135714602-135714602
682 KCNT1 NM_020822.3(KCNT1):c.760-9C>T SNV Likely benign 473397 rs1554771446 GRCh37: 9:138650251-138650251
GRCh38: 9:135758405-135758405
683 KCNT1 NM_020822.3(KCNT1):c.3275G>A (p.Arg1092His) SNV Likely benign 473383 rs369576806 GRCh37: 9:138678140-138678140
GRCh38: 9:135786294-135786294
684 SLC12A5 NM_020708.5(SLC12A5):c.1422C>T (p.Leu474=) SNV Likely benign 475641 rs371872977 GRCh37: 20:44673632-44673632
GRCh38: 20:46044993-46044993
685 SLC12A5 NM_020708.5(SLC12A5):c.273G>A (p.Pro91=) SNV Likely benign 475653 rs183377866 GRCh37: 20:44664168-44664168
GRCh38: 20:46035529-46035529
686 KCNT1 NM_020822.3(KCNT1):c.1946C>T (p.Ser649Leu) SNV Likely benign 473365 rs747671066 GRCh37: 9:138662879-138662879
GRCh38: 9:135771033-135771033
687 KCNT1 NM_020822.3(KCNT1):c.2847G>A (p.Glu949=) SNV Likely benign 473376 rs779429071 GRCh37: 9:138675875-138675875
GRCh38: 9:135784029-135784029
688 KCNT1 NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) SNV Likely benign 473390 rs368339692 GRCh37: 9:138678302-138678302
GRCh38: 9:135786456-135786456
689 KCNT1 NM_020822.3(KCNT1):c.2337G>A (p.Leu779=) SNV Likely benign 473373 rs544099606 GRCh37: 9:138667249-138667249
GRCh38: 9:135775403-135775403
690 KCNT1 NM_020822.3(KCNT1):c.851C>T (p.Thr284Met) SNV Likely benign 473398 rs376583438 GRCh37: 9:138650351-138650351
GRCh38: 9:135758505-135758505
691 KCNT1 NM_020822.3(KCNT1):c.1824G>A (p.Leu608=) SNV Likely benign 473363 rs764141661 GRCh37: 9:138662757-138662757
GRCh38: 9:135770911-135770911
692 KCNT1 NM_020822.3(KCNT1):c.2049T>C (p.Pro683=) SNV Likely benign 473367 rs1234688449 GRCh37: 9:138664601-138664601
GRCh38: 9:135772755-135772755
693 KCNT1 NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys) SNV Likely benign 473358 rs773228285 GRCh37: 9:138606442-138606442
GRCh38: 9:135714596-135714596
694 KCNT1 NM_020822.3(KCNT1):c.231C>T (p.Asp77=) SNV Likely benign 473372 rs370998066 GRCh37: 9:138606543-138606543
GRCh38: 9:135714697-135714697
695 KCNT1 NM_020822.3(KCNT1):c.1881C>T (p.Ile627=) SNV Likely benign 473364 rs1554775088 GRCh37: 9:138662814-138662814
GRCh38: 9:135770968-135770968
696 KCNT1 NM_020822.3(KCNT1):c.3063G>A (p.Thr1021=) SNV Likely benign 473381 rs760974671 GRCh37: 9:138676642-138676642
GRCh38: 9:135784796-135784796
697 KCNT1 NM_020822.3(KCNT1):c.541-7C>A SNV Likely benign 473396 rs1489319809 GRCh37: 9:138648712-138648712
GRCh38: 9:135756866-135756866
698 KCNT1 NM_020822.3(KCNT1):c.3664C>T (p.Leu1222=) SNV Likely benign 473395 rs755694160 GRCh37: 9:138683963-138683963
GRCh38: 9:135792117-135792117
699 KCNT1 NM_020822.3(KCNT1):c.1947G>A (p.Ser649=) SNV Likely benign 473366 rs779903423 GRCh37: 9:138662880-138662880
GRCh38: 9:135771034-135771034
700 KCNT1 NM_020822.3(KCNT1):c.2670C>T (p.Ser890=) SNV Likely benign 473374 rs765403435 GRCh37: 9:138670609-138670609
GRCh38: 9:135778763-135778763
701 SLC12A5 NM_020708.5(SLC12A5):c.2680-3C>T SNV Likely benign 475652 rs141933171 GRCh37: 20:44683552-44683552
GRCh38: 20:46054913-46054913
702 KCNT1 NM_020822.3(KCNT1):c.2222A>G (p.Asp741Gly) SNV Likely benign 473371 rs756359375 GRCh37: 9:138664774-138664774
GRCh38: 9:135772928-135772928
703 KCNT1 NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val) SNV Likely benign 540573 rs781375160 GRCh37: 9:138662224-138662224
GRCh38: 9:135770378-135770378
704 KCNT1 NM_020822.3(KCNT1):c.2039A>G (p.Glu680Gly) SNV Likely benign 574097 rs1207174167 GRCh37: 9:138664591-138664591
GRCh38: 9:135772745-135772745
705 SLC12A5 NM_020708.5(SLC12A5):c.2547+8G>T SNV Likely benign 542323 rs1555867366 GRCh37: 20:44681773-44681773
GRCh38: 20:46053134-46053134
706 SLC12A5 NM_020708.5(SLC12A5):c.1680C>T (p.Ile560=) SNV Likely benign 542327 rs752463505 GRCh37: 20:44674627-44674627
GRCh38: 20:46045988-46045988
707 SLC12A5 NM_020708.5(SLC12A5):c.3228G>A (p.Gly1076=) SNV Likely benign 542329 rs767829797 GRCh37: 20:44685911-44685911
GRCh38: 20:46057272-46057272
708 SLC12A5 NM_020708.5(SLC12A5):c.1788-9C>T SNV Likely benign 542330 rs773585521 GRCh37: 20:44676084-44676084
GRCh38: 20:46047445-46047445
709 SLC12A5 NM_020708.5(SLC12A5):c.1203C>T (p.Thr401=) SNV Likely benign 542331 rs1357953426 GRCh37: 20:44671928-44671928
GRCh38: 20:46043289-46043289
710 SLC12A5 NM_020708.5(SLC12A5):c.949C>T (p.Leu317=) SNV Likely benign 542333 rs775678070 GRCh37: 20:44670062-44670062
GRCh38: 20:46041423-46041423
711 KCNT1 NM_020822.3(KCNT1):c.3274C>T (p.Arg1092Cys) SNV Likely benign 412305 rs1060503695 GRCh37: 9:138678139-138678139
GRCh38: 9:135786293-135786293
712 KCNT1 NM_020822.3(KCNT1):c.1380C>T (p.Asn460=) SNV Likely benign 540586 rs566700584 GRCh37: 9:138660498-138660498
GRCh38: 9:135768652-135768652
713 KCNT1 NM_020822.3(KCNT1):c.3003G>A (p.Thr1001=) SNV Likely benign 540587 rs560435329 GRCh37: 9:138676440-138676440
GRCh38: 9:135784594-135784594
714 KCNT1 NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu) Indel Likely benign 540588 rs1554773537 GRCh37: 9:138657595-138657596
GRCh38: 9:135765749-135765750
715 KCNT1 NM_020822.3(KCNT1):c.2568C>T (p.Val856=) SNV Likely benign 540589 rs1554777911 GRCh37: 9:138670315-138670315
GRCh38: 9:135778469-135778469
716 KCNT1 NM_020822.3(KCNT1):c.1769+9G>A SNV Likely benign 540590 rs758402819 GRCh37: 9:138662302-138662302
GRCh38: 9:135770456-135770456
717 KCNT1 NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=) SNV Likely benign 447648 rs765432746 GRCh37: 9:138676726-138676726
GRCh38: 9:135784880-135784880
718 KCNT1 NM_020822.3(KCNT1):c.2295C>T (p.Thr765=) SNV Likely benign 540591 rs765278495 GRCh37: 9:138667207-138667207
GRCh38: 9:135775361-135775361
719 KCNT1 NM_020822.3(KCNT1):c.1365C>T (p.Ile455=) SNV Likely benign 540593 rs1305510057 GRCh37: 9:138660483-138660483
GRCh38: 9:135768637-135768637
720 KCNT1 NM_020822.3(KCNT1):c.1803G>A (p.Glu601=) SNV Likely benign 540595 rs376892911 GRCh37: 9:138662736-138662736
GRCh38: 9:135770890-135770890
721 KCNT1 NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) SNV Likely benign 425468 rs144118960 GRCh37: 9:138664775-138664775
GRCh38: 9:135772929-135772929
722 KCNT1 NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) SNV Likely benign 224109 rs151272083 GRCh37: 9:138670668-138670668
GRCh38: 9:135778822-135778822
723 KCNT1 NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) SNV Likely benign 417214 rs143780942 GRCh37: 9:138676438-138676438
GRCh38: 9:135784592-135784592
724 KCNT1 NM_020822.3(KCNT1):c.2350-10C>T SNV Likely benign 417215 rs367855961 GRCh37: 9:138669174-138669174
GRCh38: 9:135777328-135777328
725 KCNT1 NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) SNV Likely benign 386464 rs764574987 GRCh37: 9:138676386-138676386
GRCh38: 9:135784540-135784540
726 KCNT1 NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) SNV Likely benign 194981 rs142424896 GRCh37: 9:138664766-138664766
GRCh38: 9:135772920-135772920
727 KCNT1 NM_020822.3(KCNT1):c.942C>T (p.Thr314=) SNV Likely benign 193921 rs144766991 GRCh37: 9:138651612-138651612
GRCh38: 9:135759766-135759766
728 KCNT1 NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) SNV Likely benign 380825 rs201156458 GRCh37: 9:138678121-138678121
GRCh38: 9:135786275-135786275
729 KCNT1 NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) SNV Likely benign 392850 rs757811625 GRCh37: 9:138662928-138662928
GRCh38: 9:135771082-135771082
730 KCNT1 NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) SNV Likely benign 224109 rs151272083 GRCh37: 9:138670668-138670668
GRCh38: 9:135778822-135778822
731 KCNT1 NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) SNV Likely benign 388105 rs199996353 GRCh37: 9:138657527-138657527
GRCh38: 9:135765681-135765681
732 KCNT1 NM_020822.3(KCNT1):c.273C>T (p.Tyr91=) SNV Likely benign 696897 rs770619151 GRCh37: 9:138641962-138641962
GRCh38: 9:135750116-135750116
733 KCNT1 NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) SNV Likely benign 384409 rs374015551 GRCh37: 9:138657014-138657014
GRCh38: 9:135765168-135765168
734 SLC12A5 NM_020708.5(SLC12A5):c.936G>A (p.Thr312=) SNV Likely benign 782064 rs150595305 GRCh37: 20:44670049-44670049
GRCh38: 20:46041410-46041410
735 SLC12A5 NM_020708.5(SLC12A5):c.942C>T (p.Thr314=) SNV Likely benign 475661 rs143072268 GRCh37: 20:44670055-44670055
GRCh38: 20:46041416-46041416
736 KCNT1 NM_020822.3(KCNT1):c.2594+7C>T SNV Likely benign 417213 rs545094921 GRCh37: 9:138670348-138670348
GRCh38: 9:135778502-135778502
737 KCNT1 NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) SNV Likely benign 194882 rs371135108 GRCh37: 9:138662832-138662832
GRCh38: 9:135770986-135770986
738 KCNT1 NM_020822.3(KCNT1):c.1337+7G>A SNV Likely benign 385081 rs374975940 GRCh37: 9:138657613-138657613
GRCh38: 9:135765767-135765767
739 KCNT1 NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) SNV Likely benign 425469 rs773575309 GRCh37: 9:138678366-138678366
GRCh38: 9:135786520-135786520
740 SLC12A5 NM_020708.5(SLC12A5):c.1989G>C (p.Gly663=) SNV Likely benign 770098 rs373648545 GRCh37: 20:44676701-44676701
GRCh38: 20:46048062-46048062
741 KCNT1 NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) SNV Likely benign 386260 rs141281093 GRCh37: 9:138662861-138662861
GRCh38: 9:135771015-135771015
742 KCNT1 NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=) SNV Likely benign 699638 rs763438119 GRCh37: 9:138662270-138662270
GRCh38: 9:135770424-135770424
743 KCNT1 NM_020822.3(KCNT1):c.1962C>T (p.His654=) SNV Likely benign 669367 rs141759469 GRCh37: 9:138662895-138662895
GRCh38: 9:135771049-135771049
744 KCNT1 NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) SNV Likely benign 374645 rs780875110 GRCh37: 9:138656997-138656997
GRCh38: 9:135765151-135765151
745 KCNT1 NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln) SNV Likely benign 279821 rs561255614 GRCh37: 9:138678182-138678182
GRCh38: 9:135786336-135786336
746 KCNT1 NM_020822.3(KCNT1):c.957C>T (p.Asp319=) SNV Likely benign 384886 rs148562086 GRCh37: 9:138651627-138651627
GRCh38: 9:135759781-135759781
747 KCNT1 NM_020822.3(KCNT1):c.1443C>T (p.Phe481=) SNV Likely benign 388593 rs576446992 GRCh37: 9:138660716-138660716
GRCh38: 9:135768870-135768870
748 KCNT1 NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) SNV Likely benign 386452 rs200137341 GRCh37: 9:138606458-138606458
GRCh38: 9:135714612-135714612
749 KCNT1 NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu) SNV Likely benign 473370 rs148162797 GRCh37: 9:138664772-138664772
GRCh38: 9:135772926-135772926
750 KCNT1 NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=) SNV Likely benign 473385 rs759060691 GRCh37: 9:138678162-138678162
GRCh38: 9:135786316-135786316
751 KCNT1 NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met) SNV Likely benign 385914 rs377506738 GRCh37: 9:138664603-138664603
GRCh38: 9:135772757-135772757
752 KCNT1 NM_020822.3(KCNT1):c.279C>T (p.Asn93=) SNV Likely benign 512972 rs183022730 GRCh37: 9:138641968-138641968
GRCh38: 9:135750122-135750122
753 KCNT1 NM_020822.3(KCNT1):c.2008+7C>T SNV Likely benign 389334 rs372707698 GRCh37: 9:138662948-138662948
GRCh38: 9:135771102-135771102
754 KCNT1 NM_020822.3(KCNT1):c.1983C>T (p.Pro661=) SNV Likely benign 385751 rs533528985 GRCh37: 9:138662916-138662916
GRCh38: 9:135771070-135771070
755 KCNT1 NM_020822.3(KCNT1):c.2856T>C (p.Asn952=) SNV Likely benign 417212 rs147671362 GRCh37: 9:138675884-138675884
GRCh38: 9:135784038-135784038
756 KCNT1 NM_020822.3(KCNT1):c.2236G>A (p.Val746Met) SNV Likely benign 386181 rs559344618 GRCh37: 9:138664788-138664788
GRCh38: 9:135772942-135772942
757 KCNT1 NM_020822.3(KCNT1):c.2136C>T (p.Pro712=) SNV Likely benign 384650 rs377516058 GRCh37: 9:138664688-138664688
GRCh38: 9:135772842-135772842
758 KCNT1 NM_020822.3(KCNT1):c.1431C>T (p.Ala477=) SNV Likely benign 386242 rs375534850 GRCh37: 9:138660704-138660704
GRCh38: 9:135768858-135768858
759 KCNT1 NM_020822.3(KCNT1):c.309G>T (p.Leu103=) SNV Likely benign 392958 rs767894239 GRCh37: 9:138641998-138641998
GRCh38: 9:135750152-135750152
760 KCNT1 NM_020822.3(KCNT1):c.1638G>A (p.Pro546=) SNV Likely benign 385891 rs138352399 GRCh37: 9:138662162-138662162
GRCh38: 9:135770316-135770316
761 KCNT1 NM_020822.3(KCNT1):c.1038C>T (p.Phe346=) SNV Likely benign 473354 rs767434859 GRCh37: 9:138656879-138656879
GRCh38: 9:135765033-135765033
762 KCNT1 NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=) SNV Likely benign 473382 rs765774534 GRCh37: 9:138678111-138678111
GRCh38: 9:135786265-135786265
763 KCNT1 NM_020822.3(KCNT1):c.1788C>T (p.Ile596=) SNV Likely benign 390539 rs373444768 GRCh37: 9:138662721-138662721
GRCh38: 9:135770875-135770875
764 KCNT1 NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=) SNV Likely benign 473380 rs201120894 GRCh37: 9:138676615-138676615
GRCh38: 9:135784769-135784769
765 KCNT1 NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val) SNV Likely benign 473388 rs774589071 GRCh37: 9:138678245-138678245
GRCh38: 9:135786399-135786399
766 KCNT1 NM_020822.3(KCNT1):c.1694G>A (p.Arg565His) SNV Likely benign 508726 rs769855266 GRCh37: 9:138662218-138662218
GRCh38: 9:135770372-135770372
767 KCNT1 NM_020822.3(KCNT1):c.3162C>T (p.His1054=) SNV Likely benign 389499 rs146272510 GRCh37: 9:138677161-138677161
GRCh38: 9:135785315-135785315
768 KCNT1 NM_020822.3(KCNT1):c.434+10G>A SNV Likely benign 382908 rs187872786 GRCh37: 9:138642897-138642897
GRCh38: 9:135751051-135751051
769 KCNT1 NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=) SNV Likely benign 513372 rs148525032 GRCh37: 9:138683698-138683698
GRCh38: 9:135791852-135791852
770 KCNT1 NM_020822.3(KCNT1):c.1769+8C>A SNV Likely benign 386655 rs371287985 GRCh37: 9:138662301-138662301
GRCh38: 9:135770455-135770455
771 KCNT1 NM_020822.3(KCNT1):c.963G>A (p.Thr321=) SNV Likely benign 391114 rs760300415 GRCh37: 9:138651633-138651633
GRCh38: 9:135759787-135759787
772 KCNT1 NM_020822.3(KCNT1):c.2418G>A (p.Ser806=) SNV Likely benign 387572 rs142726010 GRCh37: 9:138669252-138669252
GRCh38: 9:135777406-135777406
773 KCNT1 NM_020822.3(KCNT1):c.1395G>A (p.Thr465=) SNV Likely benign 382867 rs777870376 GRCh37: 9:138660513-138660513
GRCh38: 9:135768667-135768667
774 KCNT1 NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His) SNV Likely benign 449722 rs776538404 GRCh37: 9:138683988-138683988
GRCh38: 9:135792142-135792142
775 KCNT1 NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) SNV Likely benign 392065 rs199779214 GRCh37: 9:138678154-138678154
GRCh38: 9:135786308-135786308
776 KCNT1 NM_020822.3(KCNT1):c.2451C>T (p.Phe817=) SNV Likely benign 540592 rs942926305 GRCh37: 9:138669285-138669285
GRCh38: 9:135777439-135777439
777 KCNT1 NM_020822.3(KCNT1):c.981G>A (p.Ser327=) SNV Likely benign 511651 rs373317695 GRCh37: 9:138651651-138651651
GRCh38: 9:135759805-135759805
778 KCNT1 NM_020822.3(KCNT1):c.1119C>T (p.His373=) SNV Likely benign 508952 rs1052932341 GRCh37: 9:138656960-138656960
GRCh38: 9:135765114-135765114
779 KCNT1 NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=) SNV Likely benign 384885 rs748942066 GRCh37: 9:138676627-138676627
GRCh38: 9:135784781-135784781
780 KCNT1 NM_020822.3(KCNT1):c.2058C>T (p.Ser686=) SNV Likely benign 509041 rs111647144 GRCh37: 9:138664610-138664610
GRCh38: 9:135772764-135772764
781 KCNT1 NM_020822.3(KCNT1):c.2594+6G>A SNV Likely benign 507504 rs973179248 GRCh37: 9:138670347-138670347
GRCh38: 9:135778501-135778501
782 KCNT1 NM_020822.3(KCNT1):c.637G>A (p.Val213Ile) SNV Likely benign 384598 rs143536408 GRCh37: 9:138649038-138649038
GRCh38: 9:135757192-135757192
783 KCNT1 NM_020822.3(KCNT1):c.408C>T (p.Leu136=) SNV Likely benign 197328 rs370046449 GRCh37: 9:138642861-138642861
GRCh38: 9:135751015-135751015
784 KCNT1 NM_020822.3(KCNT1):c.1511-4G>A SNV Likely benign 417217 rs368480443 GRCh37: 9:138661789-138661789
GRCh38: 9:135769943-135769943
785 KCNT1 NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=) SNV Likely benign 669096 rs371913299 GRCh37: 9:138661824-138661824
GRCh38: 9:135769978-135769978
786 KCNT1 NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) SNV Likely benign 129355 rs369983077 GRCh37: 9:138664586-138664586
GRCh38: 9:135772740-135772740
787 KCNT1 NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) SNV Likely benign 388437 rs372250372 GRCh37: 9:138660695-138660695
GRCh38: 9:135768849-135768849
788 KCNT1 NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) SNV Likely benign 385356 rs200250181 GRCh37: 9:138678104-138678104
GRCh38: 9:135786258-135786258
789 KCNT1 NM_020822.3(KCNT1):c.2187C>T (p.Ser729=) SNV Likely benign 385076 rs150222138 GRCh37: 9:138664739-138664739
GRCh38: 9:135772893-135772893
790 KCNT1 NM_020822.3(KCNT1):c.533C>T (p.Ala178Val) SNV Likely benign 388907 rs141961737 GRCh37: 9:138647008-138647008
GRCh38: 9:135755162-135755162
791 KCNT1 NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=) SNV Likely benign 384152 rs773695396 GRCh37: 9:138683701-138683701
GRCh38: 9:135791855-135791855
792 KCNT1 NM_020822.3(KCNT1):c.480C>T (p.Ser160=) SNV Likely benign 388988 rs374042509 GRCh37: 9:138645828-138645828
GRCh38: 9:135753982-135753982
793 KCNT1 NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys) SNV Likely benign 421231 rs144679713 GRCh37: 9:138683981-138683981
GRCh38: 9:135792135-135792135
794 KCNT1 NM_020822.3(KCNT1):c.2673C>T (p.Ala891=) SNV Likely benign 513646 rs373503298 GRCh37: 9:138670612-138670612
GRCh38: 9:135778766-135778766
795 KCNT1 NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=) SNV Likely benign 386797 rs766717782 GRCh37: 9:138676645-138676645
GRCh38: 9:135784799-135784799
796 KCNT1 NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=) SNV Likely benign 386977 rs556454353 GRCh37: 9:138683968-138683968
GRCh38: 9:135792122-135792122
797 KCNT1 NM_020822.3(KCNT1):c.237C>T (p.Ser79=) SNV Likely benign 386190 rs749179872 GRCh37: 9:138606549-138606549
GRCh38: 9:135714703-135714703
798 KCNT1 NM_020822.3(KCNT1):c.2712C>T (p.Asn904=) SNV Likely benign 513904 rs554237279 GRCh37: 9:138670651-138670651
GRCh38: 9:135778805-135778805
799 KCNT1 NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=) SNV Likely benign 386458 rs144068763 GRCh37: 9:138683695-138683695
GRCh38: 9:135791849-135791849
800 KCNT1 NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) SNV Likely benign 513011 rs550447485 GRCh37: 9:138664656-138664656
GRCh38: 9:135772810-135772810
801 KCNT1 NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) SNV Likely benign 235417 rs143704418 GRCh37: 9:138678248-138678248
GRCh38: 9:135786402-135786402
802 KCNT1 NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) SNV Likely benign 211244 rs138282349 GRCh37: 9:138683940-138683940
GRCh38: 9:135792094-135792094
803 KCNT1 NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) Deletion Likely benign 289274 rs796214553 GRCh37: 9:138656918-138656919
GRCh38: 9:135765072-135765073
804 KCNT1 NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) SNV Likely benign 241304 rs147551342 GRCh37: 9:138646997-138646997
GRCh38: 9:135755151-135755151
805 KCNT1 NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) SNV Likely benign 194781 rs147306623 GRCh37: 9:138662250-138662250
GRCh38: 9:135770404-135770404
806 KCNT1 NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) SNV Likely benign 390356 rs370155559 GRCh37: 9:138664622-138664622
GRCh38: 9:135772776-135772776
807 KCNT1 NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys) SNV Likely benign 378039 rs138109494 GRCh37: 9:138683993-138683993
GRCh38: 9:135792147-135792147
808 KCNT1 NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) SNV Likely benign 417218 rs141802876 GRCh37: 9:138676732-138676732
GRCh38: 9:135784886-135784886
809 KCNT1 NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) SNV Likely benign 378038 rs74533482 GRCh37: 9:138683984-138683984
GRCh38: 9:135792138-135792138
810 KCNT1 NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) SNV Likely benign 211243 rs370085077 GRCh37: 9:138678205-138678205
GRCh38: 9:135786359-135786359
811 KCNT1 NM_020822.3(KCNT1):c.1776C>T (p.Gly592=) SNV Benign 374745 rs769406687 GRCh37: 9:138662709-138662709
GRCh38: 9:135770863-135770863
812 KCNT1 NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) SNV Benign 386444 rs370580872 GRCh37: 9:138664694-138664694
GRCh38: 9:135772848-135772848
813 KCNT1 NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) SNV Benign 289215 rs141521745 GRCh37: 9:138683989-138683989
GRCh38: 9:135792143-135792143
814 KCNT1 NM_020822.3(KCNT1):c.2349+7C>T SNV Benign 241300 rs190849453 GRCh37: 9:138667268-138667268
GRCh38: 9:135775422-135775422
815 KCNT1 NM_020822.3(KCNT1):c.2008+10G>C SNV Benign 288268 rs752453368 GRCh37: 9:138662951-138662951
GRCh38: 9:135771105-135771105
816 KCNT1 NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) SNV Benign 194424 rs539139475 GRCh37: 9:138660512-138660512
GRCh38: 9:135768666-135768666
817 KCNT1 NM_020822.3(KCNT1):c.885G>A (p.Ala295=) SNV Benign 193923 rs142756900 GRCh37: 9:138651555-138651555
GRCh38: 9:135759709-135759709
818 KCNT1 NM_020822.3(KCNT1):c.1879A>G (p.Ile627Val) SNV Benign 129354 rs143355299 GRCh37: 9:138662812-138662812
GRCh38: 9:135770966-135770966
819 KCNT1 NM_020822.3(KCNT1):c.3039C>T (p.Thr1013=) SNV Benign 387810 rs148001061 GRCh37: 9:138676618-138676618
GRCh38: 9:135784772-135784772
820 KCNT1 NM_020822.3(KCNT1):c.854+10G>A SNV Benign 383671 rs146470183 GRCh37: 9:138650364-138650364
GRCh38: 9:135758518-135758518
821 KCNT1 NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) SNV Benign 129363 rs149416418 GRCh37: 9:138678177-138678177
GRCh38: 9:135786331-135786331
822 KCNT1 NM_020822.3(KCNT1):c.2729+9A>G SNV Benign 383436 rs12005420 GRCh37: 9:138670677-138670677
GRCh38: 9:135778831-135778831
823 KCNT1 NM_020822.3(KCNT1):c.2691G>A (p.Ala897=) SNV Benign 383085 rs142642528 GRCh37: 9:138670630-138670630
GRCh38: 9:135778784-135778784
824 KCNT1 NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=) SNV Benign 391286 rs149049198 GRCh37: 9:138683980-138683980
GRCh38: 9:135792134-135792134
825 KCNT1 NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) SNV Benign 195618 rs139114208 GRCh37: 9:138669264-138669264
GRCh38: 9:135777418-135777418
826 KCNT1 NM_020822.3(KCNT1):c.3390G>A (p.Ala1130=) SNV Benign 129365 rs77912754 GRCh37: 9:138678255-138678255
GRCh38: 9:135786409-135786409
827 KCNT1 NM_020822.3(KCNT1):c.3606C>T (p.Asp1202=) SNV Benign 383405 rs140628824 GRCh37: 9:138683905-138683905
GRCh38: 9:135792059-135792059
828 KCNT1 NM_020822.3(KCNT1):c.1614C>T (p.Arg538=) SNV Benign 383992 rs368876173 GRCh37: 9:138661896-138661896
GRCh38: 9:135770050-135770050
829 KCNT1 NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) SNV Benign 281619 rs146904895 GRCh37: 9:138675920-138675920
GRCh38: 9:135784074-135784074
830 KCNT1 NM_020822.3(KCNT1):c.1008C>T (p.Cys336=) SNV Benign 384136 rs540422455 GRCh37: 9:138651678-138651678
GRCh38: 9:135759832-135759832
831 KCNT1 NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) SNV Benign 378037 rs200173000 GRCh37: 9:138662152-138662152
GRCh38: 9:135770306-135770306
832 KCNT1 NM_020822.3(KCNT1):c.3495C>T (p.Thr1165=) SNV Benign 383860 rs374429090 GRCh37: 9:138678360-138678360
GRCh38: 9:135786514-135786514
833 KCNT1 NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) SNV Benign 194983 rs143678590 GRCh37: 9:138664769-138664769
GRCh38: 9:135772923-135772923
834 KCNT1 NM_020822.3(KCNT1):c.474G>A (p.Ser158=) SNV Benign 384843 rs139076605 GRCh37: 9:138645822-138645822
GRCh38: 9:135753976-135753976
835 KCNT1 NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) SNV Benign 385228 rs374347802 GRCh37: 9:138664718-138664718
GRCh38: 9:135772872-135772872
836 KCNT1 NM_020822.3(KCNT1):c.1338-3C>T SNV Benign 389495 rs369562243 GRCh37: 9:138660453-138660453
GRCh38: 9:135768607-135768607
837 SLC12A5 NM_020708.5(SLC12A5):c.1431C>T (p.Gly477=) SNV Benign 542324 rs538711126 GRCh37: 20:44673641-44673641
GRCh38: 20:46045002-46045002
838 SLC12A5 NM_020708.5(SLC12A5):c.2118C>T (p.Ile706=) SNV Benign 542325 rs3746521 GRCh37: 20:44678366-44678366
GRCh38: 20:46049727-46049727
839 SLC12A5 NM_020708.5(SLC12A5):c.2100= (p.Ala700=) SNV Benign 475646 rs6032635 GRCh37: 20:44678348-44678348
GRCh38: 20:46049709-46049709
840 SLC12A5 NM_020708.5(SLC12A5):c.534T>C (p.Gly178=) SNV Benign 475658 rs3746519 GRCh37: 20:44665946-44665946
GRCh38: 20:46037307-46037307
841 SLC12A5 NM_020708.5(SLC12A5):c.2403C>T (p.Gly801=) SNV Benign 475650 rs35981087 GRCh37: 20:44681621-44681621
GRCh38: 20:46052982-46052982
842 SLC12A5 NM_020708.5(SLC12A5):c.355C>A (p.Arg119=) SNV Benign 475656 rs3848724 GRCh37: 20:44664491-44664491
GRCh38: 20:46035852-46035852
843 SLC12A5 NM_020708.5(SLC12A5):c.1512G>A (p.Thr504=) SNV Benign 475642 rs41282782 GRCh37: 20:44673722-44673722
GRCh38: 20:46045083-46045083
844 SLC12A5 NM_020708.5(SLC12A5):c.1155C>T (p.Ile385=) SNV Benign 475640 rs35804246 GRCh37: 20:44671880-44671880
GRCh38: 20:46043241-46043241
845 SLC12A5 NM_020708.5(SLC12A5):c.482-5T>C SNV Benign 475657 rs147042920 GRCh37: 20:44665889-44665889
GRCh38: 20:46037250-46037250
846 SLC12A5 NM_020708.5(SLC12A5):c.2292G>T (p.Gly764=) SNV Benign 475647 rs79522550 GRCh37: 20:44680424-44680424
GRCh38: 20:46051785-46051785
847 SLC12A5 NM_020708.5(SLC12A5):c.2012+3T>A SNV Benign 475644 rs12481488 GRCh37: 20:44676727-44676727
GRCh38: 20:46048088-46048088
848 KCNT1 NM_020822.3(KCNT1):c.3006G>A (p.Pro1002=) SNV Benign 241303 rs377162900 GRCh37: 9:138676443-138676443
GRCh38: 9:135784597-135784597
849 SLC12A5 NM_020708.5(SLC12A5):c.1150C>G (p.Pro384Ala) SNV Benign 475639 rs16985442 GRCh37: 20:44671875-44671875
GRCh38: 20:46043236-46043236
850 KCNT1 NM_020822.3(KCNT1):c.74G>C (p.Arg25Pro) SNV Benign 833856 GRCh37: 9:138594178-138594178
GRCh38: 9:135702332-135702332
851 KCNT1 NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) SNV Benign 196632 rs149927148 GRCh37: 9:138683677-138683677
GRCh38: 9:135791831-135791831
852 KCNT1 NM_020822.3(KCNT1):c.1545C>T (p.Ala515=) SNV Benign 589025 rs150905302 GRCh37: 9:138661827-138661827
GRCh38: 9:135769981-135769981
853 SLC12A5 NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser) SNV Benign 445327 rs34058554 GRCh37: 20:44671914-44671914
GRCh38: 20:46043275-46043275
854 KCNT1 NM_020822.3(KCNT1):c.1182C>T (p.Tyr394=) SNV Benign 417220 rs372491855 GRCh37: 9:138657023-138657023
GRCh38: 9:135765177-135765177
855 KCNT1 NM_020822.3(KCNT1):c.3555G>T (p.Pro1185=) SNV Benign 389510 rs144068763 GRCh37: 9:138683695-138683695
GRCh38: 9:135791849-135791849
856 KCNT1 NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) SNV Benign 211241 rs151080601 GRCh37: 9:138661815-138661815
GRCh38: 9:135769969-135769969
857 KCNT1 NM_020822.3(KCNT1):c.3157-8C>T SNV Benign 211242 rs371874401 GRCh37: 9:138677148-138677148
GRCh38: 9:135785302-135785302
858 KCNT1 NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) SNV Benign 194112 rs146032445 GRCh37: 9:138656945-138656945
GRCh38: 9:135765099-135765099
859 KCNT1 NM_020822.3(KCNT1):c.985C>T (p.Leu329=) SNV Benign 241306 rs147165522 GRCh37: 9:138651655-138651655
GRCh38: 9:135759809-135759809
860 KCNT1 NM_020822.3(KCNT1):c.2619C>T (p.Gly873=) SNV Benign 129359 rs144659358 GRCh37: 9:138670558-138670558
GRCh38: 9:135778712-135778712
861 KCNT1 NM_020822.3(KCNT1):c.711C>G (p.Pro237=) SNV Benign 129367 rs117286274 GRCh37: 9:138649179-138649179
GRCh38: 9:135757333-135757333
862 KCNT1 NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) SNV Benign 194980 rs146810749 GRCh37: 9:138664787-138664787
GRCh38: 9:135772941-135772941
863 KCNT1 NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) SNV Benign 195982 rs143198263 GRCh37: 9:138676431-138676431
GRCh38: 9:135784585-135784585
864 KCNT1 NM_020822.3(KCNT1):c.333G>A (p.Ser111=) SNV Benign 196503 rs56008253 GRCh37: 9:138642022-138642022
GRCh38: 9:135750176-135750176
865 KCNT1 NM_020822.3(KCNT1):c.1134C>T (p.Val378=) SNV Benign 211239 rs149960236 GRCh37: 9:138656975-138656975
GRCh38: 9:135765129-135765129
866 KCNT1 NM_020822.3(KCNT1):c.2841+10C>T SNV Benign 417210 rs765179799 GRCh37: 9:138671326-138671326
GRCh38: 9:135779480-135779480
867 KCNT1 NM_020822.3(KCNT1):c.1626A>G (p.Gly542=) SNV Benign 382936 rs537431085 GRCh37: 9:138662150-138662150
GRCh38: 9:135770304-135770304
868 KCNT1 NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) SNV Benign 129351 rs201051863 GRCh37: 9:138606428-138606428
GRCh38: 9:135714582-135714582
869 KCNT1 NM_020822.3(KCNT1):c.978A>G (p.Pro326=) SNV Benign 129368 rs61739517 GRCh37: 9:138651648-138651648
GRCh38: 9:135759802-135759802
870 KCNT1 NM_020822.3(KCNT1):c.1830G>A (p.Pro610=) SNV Benign 701894 rs780892917 GRCh37: 9:138662763-138662763
GRCh38: 9:135770917-135770917
871 KCNT1 NM_020822.3(KCNT1):c.1188C>T (p.His396=) SNV Benign 699364 rs544796091 GRCh37: 9:138657029-138657029
GRCh38: 9:135765183-135765183
872 SLC12A5 NM_020708.5(SLC12A5):c.2805T>C (p.Asp935=) SNV Benign 767052 rs151293924 GRCh37: 20:44684806-44684806
GRCh38: 20:46056167-46056167
873 KCNT1 NM_020822.3(KCNT1):c.600+59A>C SNV Benign 802533 rs59909130 GRCh37: 9:138648837-138648837
GRCh38: 9:135756991-135756991
874 KCNT1 NM_020822.3(KCNT1):c.600+60G>A SNV Benign 802534 rs56375931 GRCh37: 9:138648838-138648838
GRCh38: 9:135756992-135756992
875 KCNT1 NM_020822.3(KCNT1):c.600+71dup Duplication Benign 802535 rs879903723 GRCh37: 9:138648847-138648848
GRCh38: 9:135757001-135757002
876 SLC12A5 NM_020708.5(SLC12A5):c.1956G>A (p.Ala652=) SNV Benign 775018 rs190924143 GRCh37: 20:44676668-44676668
GRCh38: 20:46048029-46048029
877 KCNT1 NM_020822.3(KCNT1):c.676-4A>G SNV Benign 702756 rs780921786 GRCh37: 9:138649140-138649140
GRCh38: 9:135757294-135757294
878 KCNT1 NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) SNV Benign 195619 rs149028586 GRCh37: 9:138669210-138669210
GRCh38: 9:135777364-135777364
879 KCNT1 NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) SNV Benign 129364 rs138421850 GRCh37: 9:138678253-138678253
GRCh38: 9:135786407-135786407
880 KCNT1 NM_020822.3(KCNT1):c.1056C>G (p.Leu352=) SNV Benign 241299 rs116691849 GRCh37: 9:138656897-138656897
GRCh38: 9:135765051-135765051
881 KCNT1 NM_020822.3(KCNT1):c.30G>A (p.Pro10=) SNV Benign 193440 rs139034501 GRCh37: 9:138594134-138594134
GRCh38: 9:135702288-135702288
882 KCNT1 NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) SNV Benign 129356 rs61744696 GRCh37: 9:138664762-138664762
GRCh38: 9:135772916-135772916
883 SLC12A5 NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) SNV Benign 218377 rs142740233 GRCh37: 20:44684856-44684856
GRCh38: 20:46056217-46056217
884 KCNT1 NM_020822.3(KCNT1):c.2943+6C>T SNV Benign 129361 rs28612938 GRCh37: 9:138675977-138675977
GRCh38: 9:135784131-135784131
885 KCNT1 NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) SNV Benign 129366 rs146292575 GRCh37: 9:138594163-138594163
GRCh38: 9:135702317-135702317
886 SLC12A5 NM_020708.5(SLC12A5):c.96C>T (p.Thr32=) SNV Benign 542322 rs143969641 GRCh37: 20:44663630-44663630
GRCh38: 20:46034991-46034991
887 SLC12A5 NM_020708.5(SLC12A5):c.1695C>T (p.Phe565=) SNV Benign 542326 rs41282784 GRCh37: 20:44674983-44674983
GRCh38: 20:46046344-46046344
888 KCNT1 NM_020822.3(KCNT1):c.99A>G (p.Gln33=) SNV Benign 193439 rs146152956 GRCh37: 9:138594203-138594203
GRCh38: 9:135702357-135702357
889 KCNT1 NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) SNV Benign 129362 rs200642629 GRCh37: 9:138678160-138678160
GRCh38: 9:135786314-135786314

Expression for Malignant Migrating Partial Seizures of Infancy

Search GEO for disease gene expression data for Malignant Migrating Partial Seizures of Infancy.

Pathways for Malignant Migrating Partial Seizures of Infancy

Pathways related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

(showing 5, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.02 SCN2A SCN1A PLCB1
2 11.87 SLC12A5 SCN2A SCN1A
3
Show member pathways
11.52 SCN2A SCN1A PLCB1 KCNT1
4
Show member pathways
11.2 SCN2A SCN1A
5 10.43 SCN2A SCN1A

GO Terms for Malignant Migrating Partial Seizures of Infancy

Cellular components related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.32 SCN2A SCN1A
2 T-tubule GO:0030315 9.26 SCN2A SCN1A
3 voltage-gated sodium channel complex GO:0001518 9.16 SCN2A SCN1A
4 node of Ranvier GO:0033268 8.96 SCN2A SCN1A
5 sodium channel complex GO:0034706 8.62 SCN2A SCN1A

Biological processes related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.56 SLC25A22 SLC12A5 SCN2A SCN1A
2 memory GO:0007613 9.37 SCN2A PLCB1
3 cation transmembrane transport GO:0098655 9.32 SCN2A SCN1A
4 neuronal action potential GO:0019228 9.16 SCN2A SCN1A
5 ion transport GO:0006811 9.02 SLC25A22 SLC12A5 SCN2A SCN1A KCNT1
6 membrane depolarization during action potential GO:0086010 8.96 SCN2A SCN1A

Molecular functions related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.16 SCN2A SCN1A
2 sodium channel activity GO:0005272 8.96 SCN2A SCN1A
3 voltage-gated sodium channel activity GO:0005248 8.62 SCN2A SCN1A

Sources for Malignant Migrating Partial Seizures of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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