### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GAD1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "GAD1" "glutamate decarboxylase 1 (brain, 67kDa)" "2" "q31" "unknown" "NC_000002.11" "UD_132118571334" "" "https://www.LOVD.nl/GAD1" "" "1" "4092" "2571" "605363" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GAD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-12-05 09:50:41" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00008285" "GAD1" "transcript variant GAD67" "001" "NM_000817.2" "" "NP_000808.2" "" "" "" "-422" "3054" "1785" "171673200" "171717661" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" "07049" "DEE89" "encephalopathy, developmental and epileptic, type 89" "AR" "619124" "" "" "" "00006" "2023-12-04 21:51:10" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GAD1" "00139" "GAD1" "06906" "GAD1" "07049" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00296001" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00443871" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, affected brother/sister, unaffected heterozygous parents/relatives" "M" "yes" "Algeria" "" "0" "" "" "" "FamAPatIII1" "00443872" "" "" "00443871" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "sister" "F" "yes" "Algeria" "" "0" "" "" "" "FamAPatIII2" "00443873" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "4-generation family, affected brother/sister, unaffected heterozygous parents/relatives" "F" "yes" "Egypt" "2y" "0" "" "" "" "FamBPatIV4" "00443874" "" "" "00443873" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "sister" "M" "yes" "Egypt" "4y" "0" "" "" "" "FamBPatIV1" "00443875" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, affected sister/brother, unaffected heterozygous parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "FamCPatIII1" "00443876" "" "" "00443875" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "brother" "M" "yes" "Turkey" "2y" "0" "" "" "" "FamCPatIII2" "00443877" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "4-generation family, affected brother/sister, unaffected heterozygous parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "FamDPatV2" "00443878" "" "" "00443877" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "sister" "F" "yes" "Iran" "" "0" "" "" "" "FamDPatV3" "00443879" "" "" "" "2" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "FamEPatIII2" "00443880" "" "" "00443879" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "brother" "M" "yes" "Turkey" "9d" "0" "" "" "" "FamEPatIII1" "00443881" "" "" "" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 1 affected brother, unaffected heterozygous parents/relatives" "F" "yes" "Brazil" "" "0" "" "" "" "FamFPatIV1" "00443883" "" "" "" "1" "" "00006" "{PMID:Von Hardenberg 2020:33146701}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "no" "Germany" "" "0" "" "" "" "patient" "00443885" "" "" "" "1" "" "00006" "{PMID:Neyray 2020:32705143}" "3-generation family, 1 affected, unaffected heterozygous parents (double first cousins)/relatives" "F" "" "Iran" "" "0" "" "" "Persia" "FamAPAtIII2" "00443886" "" "" "" "1" "" "00006" "{PMID:Neyray 2020:32705143}" "3-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamBPatIII4" "00443887" "" "" "" "1" "" "00006" "{PMID:Neyray 2020:32705143}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "United States" "" "0" "" "" "African American" "FamCPatII1" "00443888" "" "" "" "1" "" "00006" "{PMID:Neyray 2020:32705143}" "2-generation family, 1 affected, unaffected heterozygous parents (2nd cousins)/relatives" "M" "yes" "Sudan" "" "0" "" "" "" "FamDPatII4" "00443889" "" "" "" "1" "" "00006" "{PMID:Neyray 2020:32705143}" "3-generation family, 2 affected sisters, unaffected heterozygous parents (1st cousins)/relatives" "F" "yes" "Egypt" "" "0" "" "" "" "FamEPatIII3" "00443890" "" "" "" "1" "" "00006" "{PMID:Neyray 2020:32705143}" "2-generation family, 1 affected, unaffected heterozygous parents (1st cousins)/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "FamFPatII2" "00443905" "" "" "" "7" "" "00006" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "5-generation family, 7 affected (3F, 4M), unaffected heterozygous parents/relatives" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamA;FamPatV1" "00443906" "" "" "00443905" "1" "" "00006" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "brother" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamA;FamPatV2" "00443907" "" "" "00443905" "1" "" "00006" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "brother" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamA;FamPatV5" "00443908" "" "" "00443905" "1" "" "00006" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "sister" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamA;FamPatV7" "00443909" "" "" "00443905" "1" "" "00006" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "brother" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamA;FamPatV8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00296001" "00198" "00443871" "06906" "00443872" "06906" "00443873" "06906" "00443874" "06906" "00443875" "06906" "00443876" "06906" "00443877" "06906" "00443878" "06906" "00443879" "06906" "00443880" "06906" "00443881" "06906" "00443883" "06906" "00443885" "05611" "00443886" "05611" "00443887" "05611" "00443888" "05611" "00443889" "05611" "00443890" "05611" "00443905" "00198" "00443906" "00198" "00443907" "00198" "00443908" "00198" "00443909" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611, 06906, 07049 ## Count = 24 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000223468" "00198" "00296001" "02551" "Unknown" "" "Epileptic encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "0000333148" "06906" "00443871" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., <6m-epileptic spasms; 3y-generalized tonic-clonic seizures; EEG at onset hypsarrhythmic; drug-resistant epilepsy; axial hypotonia, spasticity, scoliosis; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; joint contractures; no dysmorphic facial features; MRI brain 2y6m-normal" "" "" "" "" "" "" "" "" "DEE89" "West syndrome" "" "0000333149" "06906" "00443872" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., 1d--epileptic spasms; 3m-seizure-free; EEG at onset suppression-burst pattern; axial hypotonia, increased muscle tonus limbs, abnormal eye movements; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; joint contractures; no dysmorphic facial features" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" "0000333150" "06906" "00443873" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., 2y-deceased; 14d-epileptic spasms, ‘eye twitches’; 9m-seizure-free; EEG at onset suppression-burst pattern; spasticity, scoliosis; profound intellectual disability; pes equinovarus; omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain mild-to-moderate cerebral and cerebellar (progressive) atrophy L > R, hypoplastic CC (1m and 2y), cervical notch" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" "0000333151" "06906" "00443874" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., 4y-deceased; -epileptic spasms, ‘eye twitches’; 2y-seizure-free; EEG at onset suppression-burst pattern; hyperreflexia, spasticity; profound intellectual disability; pes equinovarus; omphalocele; no cleft palate; joint contractures; dysmorphic facial features" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" "0000333152" "06906" "00443875" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., 14d-myoclonic seizure; 5m-generalized tonic-clonic seizures; EEG at onset suppression-burst pattern; drug-resistant epilepsy; tetraparesis, increased muscle tonus limbs; conductive hearing loss; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; MRI brain 3y-normal" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" "0000333153" "06906" "00443876" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., 2y-deceased; first days of life myoclonic seizure, tonic seizures,generalized tonic-clonic seizures; increasing seizure frequency (type unknown); EEG at onset suppression-burst pattern; drug-resistant epilepsy; tetraparesis, increased muscle tonus limbs; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; MRI brain 1y-normal" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" "0000333154" "06906" "00443877" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., 1d-myoclonic seizure; 10y-last seizure; EEG at onset dysrhythmia; 10y-last seizure; axial hypotonia, spasticity, dystonia; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; no joint contractures; no dysmorphic facial features; MRI brain normal" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" "0000333155" "06906" "00443878" "00006" "Familial, autosomal recessive" "15m" "see paper; ..., 7d-epileptic spasms, myoclonic seizure; no seizures reported for 2 m; EEG at onset suppression-burst pattern/burst attenuation; axial hypotonia, mild dystonia; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; no joint contractures; no dysmorphic facial features; MRI brain posterior cervical junction notch" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" "0000333156" "06906" "00443879" "00006" "Familial, autosomal recessive" "16m" "see paper; ..., 1m-epileptic spasms; 2m-seizure-free; EEG at onset hypsarrhythmic; axial hypotonia, spasticity; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain 50d-normal, CT 2m-atlanto-axial anomaly, minimal hydrocephalus" "" "" "" "" "" "" "" "" "DEE89" "West syndrome" "" "0000333157" "06906" "00443880" "00006" "Familial, autosomal recessive" "9d" "see paper; ..., 9d-deceased; 1d-myoclonic seizure; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; cranial ultrasound germinal matrix haemorrhage" "" "" "" "" "" "" "" "" "DEE89" "" "" "0000333158" "06906" "00443881" "00006" "Familial, autosomal recessive" "6y11m" "see paper; ..., 7d-myoclonic seizure; tonic seizures, epileptic spasms, focal seizures; EEG at onset suppression-burst pattern; occasional seizure; dystonia and hyperkinetic movements; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; joint contractures; no dysmorphic facial features; MRI brain 4m-normal, 13m-mild cerebral atrophy, 6y-mild cerebral atrophy with ventricular dilation" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" "0000333160" "06906" "00443883" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild malformations, early-onset epileptic encephalopathies with burst suppression pattern" "" "" "" "" "" "" "" "" "DEE89" "epileptic encephalopathy" "" "0000333162" "05611" "00443885" "00006" "Familial, autosomal recessive" "10y3m" "see paper; ..., delayed in all milestones, 4y-simple speech, walking delayed, no complex movements; moderate intellectual disability; high myopia; normal hearing; dysmorphic facial features; no cleft palate; clindodactyly, pes planus, scoliosis; mild hypotonia; 2m-onset epilepsy; focal non/motor seizures with impaired awareness; seizures 7y-controlled (5y6m-last seizure); EEG onset burst suppression; 11y-EEG normal; 5y-cardiovascular MRI normal; hydronephrosis, nephrocalcinosis, bilateral kidney stones" "" "" "" "" "" "" "" "" "DEE89" "early-infantile onset epilepsy, developmental delay" "" "0000333163" "05611" "00443886" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., delayed in all milestones, sitting and crawling; severe intellectual disability; normal vision; normal hearing; dysmorphic facial features; no cleft palate; arthrogryposis of lower limbs; brisk deep tendon reflexes, stereotypic hand movements, oral automatisms; 6m-onset epilepsy; focal motor seizures with impaired awareness, bilateral tonic clonic seizures; seizures 10y-controlled (7y-last seizure); EEG onset multifocal and generalized epileptogenic activity; 7y-EEG normal; 6m-cardiovascular MRI prominent ventricular space;" "" "" "" "" "" "" "" "" "DEE89" "early-infantile onset epilepsy, developmental delay" "" "0000333164" "05611" "00443887" "00006" "Familial, autosomal recessive" "22m" "see paper; ..., delayed in all milestones, no head control, no sitting, no speech; severe intellectual disability; no dysmorphic facial features; no cleft palate; no skeletal abnormalities; mild hypotonia, spasticity in lower extremities, oropharyngeal dysphagia; 2m-onset epilepsy; focal non/motor seizures with impaired awareness, bilateral tonic clonic seizures; 28m-seizures refractory; EEG onset burst suppression; 28m4m-EEG slowing, multifocal epileptic discharges; 2m-cardiovascular MRI normal; NG-tube dependent" "" "" "" "" "" "" "" "" "DEE89" "early-infantile onset epilepsy, developmental delay" "" "0000333165" "05611" "00443888" "00006" "Familial, autosomal recessive" "18m" "see paper; ..., severe delay, 18m-poor head control achieved, no sitting; severe intellectual disability; normal vision; normal hearing; dysmorphic facial features; no cleft palate; short arms; severe hypotonia, dysphagia (floppy epiglottis); 2m-onset epilepsy; epileptic spasms; 18m-spasms continue, seizures controlled; EEG onset hypsarrhythmia; 18m4m-EEG no epileptic abnormalities; 6m-cardiovascular MRI normal; diastasis recti" "" "" "" "" "" "" "" "" "DEE89" "early-infantile onset epilepsy, developmental delay" "" "0000333166" "05611" "00443889" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., severe delay in all milestones, bed ridden; severe intellectual disability; normal vision; moderate hearing impairment; dysmorphic facial features; cleft palate (surgical correction); congenital hip dislocation and malformation; severe hypotonia, hyporeflexia, dysphagia; 6m-onset epilepsy; bilateral tonic clonic seizures; 4y-seizures refractory; EEG onset generalized epileptogenic activity; 1y-cardiovascular MRI moderate global atrophy; intermittent NG tube dependence" "" "" "" "" "" "" "" "" "DEE89" "early-infantile onset epilepsy, developmental delay" "" "0000333167" "05611" "00443890" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., severe delay in all milestones, no sitting or crawling; severe intellectual disability; high myopia; normal hearing; no dysmorphic facial features; no cleft palate; severe hypotonia; 2m-onset epilepsy; focal to bilateral motor seizures with impaired awareness; 1 seizure/week, partially controlled ; EEG onset hypsarrhythmia; 4m-EEG generalized epileptiform activity; 2m-cardiovascular MRI normal" "" "" "" "" "" "" "" "" "DEE89" "early-infantile onset epilepsy, developmental delay" "" "0000333169" "00198" "00443905" "00006" "Familial, autosomal recessive" "14y" "microcephaly; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes; plantar response upgoing; bilateral congenital dislocation hips; fixed flexion deformities both knees; never walked independently, 2y6m-mobility with frame; 4y-wheelchair bound after surgery congenital hip dislocation; convergent squint" "1y" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" "0000333170" "00198" "00443906" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., full-term normal delivery; severe learning disability; no epilepsy; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes/tone; equivocal plantar response; thoracolumbar scoliosis; fixed flexion deformities both knees, extension at hips; distal muscle wasting lower limbs; 2y6m-crawl, became wheelchair dependent" "6m" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" "0000333171" "00198" "00443907" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., severe learning disability; no epilepsy; no microcephaly; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes/tone; plantar response upgoing; 2y-crawl" "1y" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" "0000333172" "00198" "00443908" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., full-term normal delivery; mild/moderate learning disability; no epilepsy; no microcephaly; predominantly lower limbs affected; increased lower limb reflexes/tone; plantar response upgoing; 22y-dysarthria, fixed flexion knees; upper and lower limb wasting; became wheelchair dependent; congenital convergent squint; normal nerve conduction studies, EMG normal, creatinine kinase normal" "1y" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" "0000333173" "00198" "00443909" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., full-term normal delivery; no severe learning disability; no epilepsy; no microcephaly; severe ataxic gait; increased lower limb reflexes/tone; plantar response upgoing; muscle wasting lower limbs; 2y6m-walk, 22y-partially wheelchair-bound; horizontal ophthalmoplegia, ERG substantially reduced responses on right, absent on left; normal CPK and lactate, amino acids (blood and urine), organic acids, ferritin and caeruloplasmin" "2y" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000297172" "00296001" "1" "02551" "02551" "2020-04-01 11:03:46" "" "" "SEQ" "DNA" "" "" "0000445368" "00443871" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000445369" "00443872" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000445370" "00443873" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445371" "00443874" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445372" "00443875" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445373" "00443876" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445374" "00443877" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445375" "00443878" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445376" "00443879" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445377" "00443880" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445378" "00443881" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445380" "00443883" "1" "00006" "00006" "2023-12-05 14:23:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "trio WES" "0000445382" "00443885" "1" "00006" "00006" "2023-12-05 15:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445383" "00443886" "1" "00006" "00006" "2023-12-05 15:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445384" "00443887" "1" "00006" "00006" "2023-12-05 15:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445385" "00443888" "1" "00006" "00006" "2023-12-05 15:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445386" "00443889" "1" "00006" "00006" "2023-12-05 15:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445387" "00443890" "1" "00006" "00006" "2023-12-05 15:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445402" "00443905" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445403" "00443906" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445404" "00443907" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445405" "00443908" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445406" "00443909" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 42 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000280969" "0" "10" "2" "171678625" "171678625" "subst" "0.393914" "02325" "GAD1_000001" "g.171678625T>C" "" "" "" "GAD1(NM_000817.3):c.111T>C (p.H37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170822115T>C" "" "benign" "" "0000284574" "0" "30" "2" "171702585" "171702585" "subst" "0.033947" "02326" "GAD1_000004" "g.171702585G>A" "" "" "" "GAD1(NM_000817.2):c.1002+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170846075G>A" "" "likely benign" "" "0000327514" "0" "50" "2" "171702088" "171702088" "subst" "0" "01804" "GAD1_000003" "g.171702088G>A" "" "" "" "GAD1(NM_000817.2):c.824G>A (p.(Gly275Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170845578G>A" "" "VUS" "" "0000327515" "0" "50" "2" "171704223" "171704223" "subst" "8.12367E-6" "01804" "GAD1_000005" "g.171704223C>T" "" "" "" "GAD1(NM_000817.2):c.1040C>T (p.(Thr347Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170847713C>T" "" "VUS" "" "0000327516" "0" "50" "2" "171716319" "171716319" "subst" "0" "01804" "GAD1_000007" "g.171716319C>G" "" "" "" "GAD1(NM_000817.2):c.1712C>G (p.(Ser571Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170859809C>G" "" "VUS" "" "0000337344" "0" "10" "2" "171673475" "171673475" "subst" "0" "02327" "GAD1_000008" "g.171673475G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170816965G>A" "" "benign" "" "0000510242" "0" "30" "2" "171687554" "171687554" "subst" "0.000580692" "01943" "GAD1_000009" "g.171687554T>C" "" "" "" "GAD1(NM_000817.2):c.399T>C (p.D133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170831044T>C" "" "likely benign" "" "0000510243" "0" "50" "2" "171715338" "171715338" "dup" "0" "01943" "GAD1_000010" "g.171715338dup" "" "" "" "GAD1(NM_000817.2):c.1546dupT (p.W516Lfs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170858828dup" "" "VUS" "" "0000510245" "0" "30" "2" "171716216" "171716216" "subst" "0.00249972" "01943" "GAD1_000012" "g.171716216A>G" "" "" "" "GAD1(NM_000817.2):c.1612-3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170859706A>G" "" "likely benign" "" "0000654285" "0" "30" "2" "171705865" "171705865" "subst" "0.000426722" "01943" "GAD1_000013" "g.171705865C>T" "" "" "" "GAD1(NM_000817.2):c.1184+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170849355C>T" "" "likely benign" "" "0000659797" "3" "90" "2" "171704303" "171704303" "subst" "0" "02551" "GAD1_000014" "g.171704303G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.170847793G>A" "" "pathogenic" "" "0000676113" "0" "10" "2" "171678625" "171678625" "subst" "0.393914" "02327" "GAD1_000001" "g.171678625T>C" "" "" "" "GAD1(NM_000817.3):c.111T>C (p.H37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688401" "0" "90" "2" "171699100" "171699100" "subst" "0" "01943" "GAD1_000015" "g.171699100T>A" "" "" "" "GAD1(NM_013445.3):c.660T>A (p.C220*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928317" "0" "30" "2" "171702577" "171702577" "subst" "0.000528249" "02325" "GAD1_000016" "g.171702577T>G" "" "" "" "GAD1(NM_000817.3):c.1002+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928318" "0" "50" "2" "171709291" "171709291" "subst" "0.000531975" "02325" "GAD1_000017" "g.171709291G>T" "" "" "" "GAD1(NM_000817.3):c.1252G>T (p.V418F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928319" "0" "30" "2" "171715408" "171715408" "subst" "0.000475324" "02325" "GAD1_000018" "g.171715408G>A" "" "" "" "GAD1(NM_000817.3):c.1611+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952286" "3" "90" "2" "171713527" "171713527" "subst" "0" "00006" "GAD1_000026" "g.171713527G>C" "" "{PMID:Chatron 2020:32282878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.170857017G>C" "" "pathogenic (dominant)" "" "0000952287" "3" "90" "2" "171713527" "171713527" "subst" "0" "00006" "GAD1_000026" "g.171713527G>C" "" "{PMID:Chatron 2020:32282878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.170857017G>C" "" "pathogenic (dominant)" "" "0000952288" "3" "90" "2" "171700611" "171700613" "del" "0" "00006" "GAD1_000023" "g.171700611_171700613del" "" "{PMID:Chatron 2020:32282878}" "" "695_697delAGA" "" "Germline" "yes" "" "0" "" "" "g.170844101_170844103del" "" "pathogenic (dominant)" "" "0000952289" "3" "90" "2" "171700611" "171700613" "del" "0" "00006" "GAD1_000023" "g.171700611_171700613del" "" "{PMID:Chatron 2020:32282878}" "" "695_697delAGA" "" "Germline" "yes" "" "0" "" "" "g.170844101_170844103del" "" "pathogenic (dominant)" "" "0000952290" "3" "90" "2" "171702076" "171702080" "del" "0" "00006" "GAD1_000024" "g.171702076_171702080del" "" "{PMID:Chatron 2020:32282878}" "" "812_816delTTAAG" "" "Germline" "yes" "" "0" "" "" "g.170845566_170845570del" "" "pathogenic (dominant)" "" "0000952291" "3" "90" "2" "171702076" "171702080" "del" "0" "00006" "GAD1_000024" "g.171702076_171702080del" "" "{PMID:Chatron 2020:32282878}" "" "812_816delTTAAG" "" "Germline" "yes" "" "0" "" "" "g.170845566_170845570del" "" "pathogenic (dominant)" "" "0000952292" "3" "90" "2" "171715383" "171715383" "subst" "4.06098E-6" "00006" "GAD1_000028" "g.171715383C>T" "" "{PMID:Chatron 2020:32282878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.170858873C>T" "" "pathogenic (dominant)" "" "0000952293" "3" "90" "2" "171715383" "171715383" "subst" "4.06098E-6" "00006" "GAD1_000028" "g.171715383C>T" "" "{PMID:Chatron 2020:32282878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.170858873C>T" "" "pathogenic (dominant)" "" "0000952294" "3" "90" "2" "171715383" "171715383" "subst" "4.06098E-6" "00006" "GAD1_000028" "g.171715383C>T" "" "{PMID:Chatron 2020:32282878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.170858873C>T" "" "pathogenic (dominant)" "" "0000952295" "3" "90" "2" "171715383" "171715383" "subst" "4.06098E-6" "00006" "GAD1_000028" "g.171715383C>T" "" "{PMID:Chatron 2020:32282878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.170858873C>T" "" "pathogenic (dominant)" "" "0000952296" "3" "90" "2" "171715317" "171715317" "subst" "0" "00006" "GAD1_000027" "g.171715317G>A" "" "{PMID:Chatron 2020:32282878}" "" "" "" "Germline" "" "" "0" "" "" "g.170858807G>A" "" "pathogenic (dominant)" "" "0000952372" "3" "90" "2" "171704303" "171704303" "subst" "0" "00006" "GAD1_000014" "g.171704303G>A" "" "{PMID:Von Hardenberg 2020:33146701}" "" "" "" "Germline" "" "" "0" "" "" "g.170847793G>A" "" "pathogenic (recessive)" "" "0000952375" "3" "50" "2" "171716298" "171716298" "subst" "4.06316E-6" "00006" "GAD1_000029" "g.171716298A>G" "" "{PMID:Neyray 2020:32705143}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.170859788A>G" "" "VUS" "" "0000952376" "3" "50" "2" "171702542" "171702542" "subst" "8.12704E-6" "00006" "GAD1_000025" "g.171702542T>G" "" "{PMID:Neyray 2020:32705143}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.170846032T>G" "" "VUS" "" "0000952377" "10" "90" "2" "171715383" "171715383" "subst" "4.06098E-6" "00006" "GAD1_000028" "g.171715383C>T" "" "{PMID:Neyray 2020:32705143}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.170858873C>T" "" "pathogenic (recessive)" "" "0000952378" "3" "50" "2" "171704223" "171704223" "subst" "8.12367E-6" "00006" "GAD1_000005" "g.171704223C>T" "" "{PMID:Neyray 2020:32705143}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.170847713C>T" "" "VUS" "" "0000952379" "3" "90" "2" "171678601" "171678601" "subst" "0" "00006" "GAD1_000020" "g.171678601C>G" "" "{PMID:Neyray 2020:32705143}" "" "" "ACMG PVS1, PM2, PP4" "Germline" "" "" "0" "" "" "g.170822091C>G" "" "pathogenic (recessive)" "" "0000952380" "3" "90" "2" "171693323" "171693323" "del" "0" "00006" "GAD1_000021" "g.171693323del" "" "{PMID:Neyray 2020:32705143}" "" "" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.170836813del" "" "pathogenic (recessive)" "" "0000952381" "21" "90" "2" "171700586" "171700586" "del" "0" "00006" "GAD1_000022" "g.171700586del" "" "{PMID:Neyray 2020:32705143}" "" "670delC" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.170844076del" "" "pathogenic (recessive)" "" "0000952402" "3" "50" "2" "171675136" "171675136" "subst" "2.03189E-5" "00006" "GAD1_000019" "g.171675136C>G" "" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "" "" "reclassified in Morgan 2021" "Germline" "" "" "0" "" "" "g.170818626C>G" "" "VUS" "" "0000952403" "3" "50" "2" "171675136" "171675136" "subst" "2.03189E-5" "00006" "GAD1_000019" "g.171675136C>G" "" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "" "" "reclassified in Morgan 2021" "Germline" "" "" "0" "" "" "g.170818626C>G" "" "VUS" "" "0000952404" "3" "50" "2" "171675136" "171675136" "subst" "2.03189E-5" "00006" "GAD1_000019" "g.171675136C>G" "" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "" "" "reclassified in Morgan 2021" "Germline" "" "" "0" "" "" "g.170818626C>G" "" "VUS" "" "0000952405" "3" "50" "2" "171675136" "171675136" "subst" "2.03189E-5" "00006" "GAD1_000019" "g.171675136C>G" "" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "" "" "reclassified in Morgan 2021" "Germline" "" "" "0" "" "" "g.170818626C>G" "" "VUS" "" "0000952406" "3" "50" "2" "171675136" "171675136" "subst" "2.03189E-5" "00006" "GAD1_000019" "g.171675136C>G" "" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "" "" "reclassified in Morgan 2021" "Germline" "" "" "0" "" "" "g.170818626C>G" "" "VUS" "" "0000974469" "0" "50" "2" "171702114" "171702114" "subst" "1.62462E-5" "01804" "GAD1_000030" "g.171702114C>T" "" "" "" "GAD1(NM_000817.3):c.850C>T (p.(Leu284Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032525" "0" "30" "2" "171709305" "171709305" "subst" "0" "01804" "GAD1_000031" "g.171709305C>G" "" "" "" "GAD1(NM_000817.3):c.1263+3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GAD1 ## Count = 42 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000280969" "00008285" "10" "111" "0" "111" "0" "c.111T>C" "r.(?)" "p.(His37=)" "" "0000284574" "00008285" "30" "1002" "12" "1002" "12" "c.1002+12G>A" "r.(=)" "p.(=)" "" "0000327514" "00008285" "50" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Gly275Asp)" "" "0000327515" "00008285" "50" "1040" "0" "1040" "0" "c.1040C>T" "r.(?)" "p.(Thr347Met)" "" "0000327516" "00008285" "50" "1712" "0" "1712" "0" "c.1712C>G" "r.(?)" "p.(Ser571Cys)" "" "0000337344" "00008285" "10" "-147" "0" "-147" "0" "c.-147G>A" "r.(?)" "p.(=)" "" "0000510242" "00008285" "30" "399" "0" "399" "0" "c.399T>C" "r.(?)" "p.(Asp133=)" "" "0000510243" "00008285" "50" "1546" "0" "1546" "0" "c.1546dup" "r.(?)" "p.(Trp516LeufsTer64)" "" "0000510245" "00008285" "30" "1612" "-3" "1612" "-3" "c.1612-3A>G" "r.spl?" "p.?" "" "0000654285" "00008285" "30" "1184" "5" "1184" "5" "c.1184+5C>T" "r.spl?" "p.?" "" "0000659797" "00008285" "90" "1119" "1" "1119" "1" "c.1119+1G>A" "r.(?)" "p.(335Gly_Asp373del)" "" "0000676113" "00008285" "10" "111" "0" "111" "0" "c.111T>C" "r.(?)" "p.(His37=)" "" "0000688401" "00008285" "90" "639" "-1455" "639" "-1455" "c.639-1455T>A" "r.(=)" "p.(=)" "" "0000928317" "00008285" "30" "1002" "4" "1002" "4" "c.1002+4T>G" "r.spl?" "p.?" "" "0000928318" "00008285" "50" "1252" "0" "1252" "0" "c.1252G>T" "r.(?)" "p.(Val418Phe)" "" "0000928319" "00008285" "30" "1611" "5" "1611" "5" "c.1611+5G>A" "r.spl?" "p.?" "" "0000952286" "00008285" "90" "1414" "-1" "1414" "-1" "c.1414-1G>C" "r.[1414_1521del,1413_1414ins[1414-77_1414-2;c],1414_1420del]" "p.[Gly472_Glu507del,Gly472fs]" "14i" "0000952287" "00008285" "90" "1414" "-1" "1414" "-1" "c.1414-1G>C" "r.[1414_1521del,1413_1414ins[1414-77_1414-2;c],1414_1420del]" "p.[Gly472_Glu507del,Gly472fs]" "14i" "0000952288" "00008285" "90" "695" "0" "697" "0" "c.695_697delAGA" "r.spl?" "p.(Lys232del)" "" "0000952289" "00008285" "90" "695" "0" "697" "0" "c.695_697delAGA" "r.spl?" "p.(Lys232del)" "" "0000952290" "00008285" "90" "812" "0" "816" "0" "c.812_816delTTAAG" "r.(?)" "p.(Val271AspfsTer9)" "" "0000952291" "00008285" "90" "812" "0" "816" "0" "c.812_816delTTAAG" "r.(?)" "p.(Val271AspfsTer9)" "" "0000952292" "00008285" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Ter)" "" "0000952293" "00008285" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Ter)" "" "0000952294" "00008285" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Ter)" "" "0000952295" "00008285" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Ter)" "" "0000952296" "00008285" "90" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Glu509Lys)" "" "0000952372" "00008285" "90" "1119" "1" "1119" "1" "c.1119+1G>A" "r.1003_1192del" "p.Gly335_Asp373del" "11i" "0000952375" "00008285" "50" "1691" "0" "1691" "0" "c.1691A>G" "r.(?)" "p.(Asn564Ser)" "" "0000952376" "00008285" "50" "971" "0" "971" "0" "c.971T>G" "r.(?)" "p.(Phe324Cys)" "" "0000952377" "00008285" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Ter)" "" "0000952378" "00008285" "50" "1040" "0" "1040" "0" "c.1040C>T" "r.(?)" "p.(Thr347Met)" "" "0000952379" "00008285" "90" "87" "0" "87" "0" "c.87C>G" "r.(?)" "p.(Tyr29Ter)" "" "0000952380" "00008285" "90" "568" "0" "568" "0" "c.568del" "r.(?)" "p.(Gln190SerfsTer11)" "" "0000952381" "00008285" "90" "670" "0" "670" "0" "c.670del" "r.(?)" "p.(Leu224SerfsTer5)" "" "0000952402" "00008285" "50" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Cys)" "" "0000952403" "00008285" "50" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Cys)" "" "0000952404" "00008285" "50" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Cys)" "" "0000952405" "00008285" "50" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Cys)" "" "0000952406" "00008285" "50" "35" "0" "35" "0" "c.35C>G" "r.(?)" "p.(Ser12Cys)" "" "0000974469" "00008285" "50" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(Leu284Phe)" "" "0001032525" "00008285" "30" "1263" "3" "1263" "3" "c.1263+3C>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000297172" "0000659797" "0000445368" "0000952286" "0000445369" "0000952287" "0000445370" "0000952288" "0000445371" "0000952289" "0000445372" "0000952290" "0000445373" "0000952291" "0000445374" "0000952292" "0000445375" "0000952293" "0000445376" "0000952294" "0000445377" "0000952295" "0000445378" "0000952296" "0000445380" "0000952372" "0000445382" "0000952375" "0000445383" "0000952376" "0000445384" "0000952377" "0000445384" "0000952381" "0000445385" "0000952378" "0000445386" "0000952379" "0000445387" "0000952380" "0000445402" "0000952402" "0000445403" "0000952403" "0000445404" "0000952404" "0000445405" "0000952405" "0000445406" "0000952406"