### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GNB1) # 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}}" "GNB1" "guanine nucleotide binding protein (G protein), beta polypeptide 1" "1" "p36.33" "unknown" "NC_000001.10" "UD_136087260864" "" "http://www.LOVD.nl/GNB1" "" "1" "4396" "2782" "139380" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GNB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-10 21:11:29" "00006" "2025-08-26 16:10:49" ## 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}}" "00008651" "GNB1" "guanine nucleotide binding protein (G protein), beta polypeptide 1" "001" "NM_002074.3" "" "NP_002065.1" "" "" "" "-363" "2800" "1023" "1822526" "1716725" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05532" "MRD" "mental retardation, autosomal dominant (MRD, intellectual disability (IDD))" "" "" "" "autosomal dominant" "" "00006" "2018-12-18 09:20:18" "00006" "2018-12-18 09:24:21" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06007" "MRD42" "Mental retardation, autosomal dominant 42" "AD" "616973" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GNB1" "06007" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00064744" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "M" "" "United States" ">08y06m" "0" "" "" "Jewish-Ashkenazi" "" "00064745" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "M" "" "United States" ">00y13m" "0" "" "" "Jewish-Ashkenazi;Jewish-Sephardic" "" "00064746" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "M" "" "United States" ">05y" "0" "" "" "Jewish-Ashkenazi;Jewish-Sephardic" "" "00064747" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "F" "" "" ">04y" "0" "" "" "Africa, north" "" "00064748" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "M" "no" "" ">19y" "0" "" "" "European" "" "00064749" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "F" "no" "" ">17y" "0" "" "" "European" "" "00064750" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "M" "no" "United States" ">08y" "0" "" "" "European" "" "00064751" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "F" "no" "United States" ">20y" "0" "" "" "European;Filipino" "" "00064752" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "M" "no" "United States" ">11y" "0" "" "" "Mexican;Spanish;German" "" "00064753" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "M" "no" "United States" ">04y" "0" "" "" "European" "" "00064754" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "M" "no" "" "10y" "0" "" "" "European" "" "00064755" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "M" "no" "United States" ">06y" "0" "" "" "European" "" "00064756" "" "" "" "1" "" "00006" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "F" "no" "" ">04y" "0" "" "" "Hispanic" "" "00174868" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00320178" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00373713" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "" "Chinese" "iw071" "00436388" "" "" "" "1" "" "01164" "" "" "F" "no" "Armenia" "" "0" "" "" "" "268932" "00453486" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00465244" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "0" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00064744" "05162" "00064745" "05162" "00064746" "05162" "00064747" "05162" "00064748" "05162" "00064749" "05162" "00064750" "05162" "00064751" "05162" "00064752" "05162" "00064753" "05162" "00064754" "05162" "00064755" "05162" "00064756" "05162" "00174868" "00198" "00320178" "00198" "00373713" "05532" "00436388" "06007" "00453486" "00198" "00465244" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05162, 05532, 05611, 06007 ## Count = 19 "{{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}}" "0000050902" "05162" "00064744" "00006" "Isolated (sporadic)" "08y06m" "see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), intellectual disability (HP:0001249), early onset hypotonia (HP:0008947), attention deficit hyperactivity disorder (HP:0007018), hypsarrhythmia by eeg (HP:0002521), vocal tics (HP:0100035), motor tics (HP:0100034), anxiety disorder (HP:0100852)" "" "" "" "" "" "" "" "" "" "" "" "0000050903" "05162" "00064745" "00006" "Isolated (sporadic)" "01y01m" "see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), strabismus (HP:0000486), feeding difficulties (HP:0011968), EEG with generalized epileptiform discharges (HP:0011198), early onset hypotonia (HP:0008947), infantile spasms (HP:0012469)" "" "" "" "" "" "" "" "" "" "" "" "0000050904" "05162" "00064746" "00006" "Isolated (sporadic)" "05y" "see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), failure to thrive (HP:0001508), feeding difficulties (HP:0011968), cortical visual impairment (HP:0100704), early onset hypotonia (HP:0008947), abnormal auditory evoked potentials (HP:0006958), generalized seizures (HP:0002197), polymicrogyria (HP:0002126), delayed myelination (HP:0012448)" "" "" "" "" "" "" "" "" "" "" "" "0000050905" "05162" "00064747" "00006" "Isolated (sporadic)" "04y" "see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), growth delay (HP:0001510), limb hypertonia (HP:0002509), failure to thrive (HP:0001508), cleft palate (HP:0000175), delayed speech and language development (HP:0000750), dystonia (HP:0001332), infantile axial hypotonia (HP:0009062), congenital hypothyroidism (HP:0000851), adducted thumb (HP:0001181), abnormality of ocular smooth pursuit (HP:0000617), stridor (HP:0010307), limb dystonia (HP:0002451)" "" "" "" "" "" "" "" "" "" "" "" "0000050906" "05162" "00064748" "00006" "Isolated (sporadic)" "19y" "see paper; ..., global developmental delay (HP:0001263), seizures (HP:0001250), multifocal eeg abnormality (HP:0010841), intellectual disability (HP:0001249), developmental regression (HP:0002376), focal seizures with impairment of awareness (HP:0002384), generalized tonic-clonic seizures (HP:0002069), eeg with generalized epileptiform discharges (HP:0011198), absence seizures (HP:0002121), autism (HP:0000717), infantile spasms (HP:0012469), status epilepticus (HP:0002133), generalized tonic seizures (HP:0010818), hypsarrhythmia by eeg (HP:0002521), behavioural abnormality (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "0000050907" "05162" "00064749" "00006" "Isolated (sporadic)" "17y" "see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), intellectual disability (HP:0001249), generalized tonic-clonic seizures (HP:0002069), absence seizures (HP:0002121), status epilepticus (HP:0002133), febrile seizures (HP:0002373), atonic seizures (HP:0010819), focal seizures (HP:0007359), short philtrum (HP:0000322), tapered fingers (HP:0001182), joint hypermobility (HP:0001382), aggressive behaviour (HP:0000718), eeg with temporal sharp and slow waves (HP:0011289), hyperreflexia (HP:0001347), prominent upper incisors (HP:0000675), narrow hands (HP:0004283)" "" "" "" "" "" "" "" "" "" "" "" "0000050908" "05162" "00064750" "00006" "Isolated (sporadic)" "08y" "see paper; ..., global developmental delay (HP:0001263), seizures (HP:0001250), limb hypertonia (HP:0002509), failure to thrive (HP:0001508), strabismus (HP:0000486), focal seizures with impairment of awareness (HP:0002384), hydronephrosis (HP:0000126), hemiplegia (HP:0002301), bilateral ureteropelvic junction obstruction (HP:0000074), high-arched palate (HP:0000218), pectus excavatum (HP:0000767), lower extremity weakness (HP:0007340), hemiclonic seizure (HP:0006813), eeg with burst suppression (HP:0010851), global brain atrophy (HP:0002283)" "" "" "" "" "" "" "" "" "" "" "" "0000050909" "05162" "00064751" "00006" "Isolated (sporadic)" "20y" "see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), expressive language delay (HP:0002474), strabismus (HP:0000486), developmental regression (HP:0002376), generalized tonic-clonic seizures (HP:0002069), autism (HP:0000717), macrocephaly (HP:0000256), postnatal macrocephaly (HP:0005490), esotropia (HP:0000565), eeg with temporal focal spikes (HP:0012018)" "" "" "" "" "" "" "" "" "" "" "" "0000050910" "05162" "00064752" "00006" "Isolated (sporadic)" "11y" "see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), attention deficit hyperactivity disorder (HP:0007018), delayed speech and language development (HP:0000750), cerebral palsy (HP:0100021), pes planus (HP:0001763)" "" "" "" "" "" "" "" "" "" "" "" "0000050911" "05162" "00064753" "00006" "Isolated (sporadic)" "04y" "see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), multifocal eeg abnormality (HP:0010841), expressive language delay (HP:0002474), strabismus (HP:0000486), nystagmus (HP:0000639), inability to walk (HP:0002540), eeg with generalized epileptiform discharges (HP:0011198), tonic seizures (HP:0010818), macrocephaly (HP:0000256), dysphagia (HP:0002015), exotropia (HP:0000577), myoclonic seizures (HP:0002123), severe receptive language delay (HP:0011352)" "" "" "" "" "" "" "" "" "" "" "" "0000050912" "05162" "00064754" "00006" "Isolated (sporadic)" "10y" "see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), expressive language delay (HP:0002474), inability to walk (HP:0002540)nystagmus (HP:0000639), developmental regression (HP:0002376), hydronephrosis (HP:0000126), asthma (HP:0002099)" "" "" "" "" "" "" "" "" "" "" "" "0000050913" "05162" "00064755" "00006" "Isolated (sporadic)" "06y" "see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), limb hypertonia (HP:0002509), feeding difficulties (HP:0011968), cortical visual impairment (HP:0100704), focal seizures with impairment of awareness (HP:0002384), dysphagia (HP:0002015), dystonia (HP:0001332), posteriorly rotated ears (HP:0000358), overfolded helices (HP:0000396), clenched hand position (HP:0001188), limited elbow extension (HP:0001377), sensorineural hearing loss (HP:0000407), neurogenic bladder (HP:0000011), eeg with occipital slowing (HP:0011210)" "" "" "" "" "" "" "" "" "" "" "" "0000050914" "05162" "00064756" "00006" "Isolated (sporadic)" "04y" "see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), intellectual disability (HP:0001249), limb hypertonia (HP:0002509), expressive language delay (HP:0002474), failure to thrive (HP:0001508), feeding difficulties (HP:0011968), cortical visual impairment (HP:0100704), nystagmus (HP:0000639), inability to walk (HP:0002540), cleft palate (HP:0000175), infantile axial hypotonia (HP:0009062), myoclonus (HP:0001336)" "" "" "" "" "" "" "" "" "" "" "" "0000139693" "00198" "00174868" "01807" "Unknown" "" "Moderate global developmental delay (HP:0011343); Macrocephaly (HP:0000256); Gait disturbance (HP:0001288); Abnormality of the foot (HP:0001760)" "" "" "" "" "" "" "" "" "" "" "" "0000242224" "00198" "00320178" "01807" "Unknown" "" "Seizure (HP:0001250); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000268938" "05532" "00373713" "01864" "Familial, autosomal dominant" "" "HP:0001249; HP:0001263; HP:0000639; HP:0008070; HP:0025119" "" "" "" "" "" "" "" "" "Mental retardation, autosomal dominant 42 (OMIM 616973)" "" "" "0000326568" "06007" "00436388" "01164" "Isolated (sporadic)" "03y" "Neurodevelopmental delay, Motor delay" "" "" "" "" "" "" "" "" "" "" "" "0000342147" "00198" "00453486" "03544" "Isolated (sporadic)" "" "HP:0001263, HP:0001256, HP:0007018, HP:0012758, HP:0000750, HP:0009088, HP:0011098" "" "" "" "" "" "" "" "" "MRD42" "complex neurodevelopmental disorder" "" "0000350779" "05611" "00465244" "03544" "Isolated (sporadic)" "" "HP:0001256, HP:0011342, HP:0000750, HP:0007018, HP:0000742, HP:0001852, HP:0008094" "" "" "" "" "" "" "" "" "MRD42" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064882" "00064744" "1" "00006" "00006" "2016-05-10 21:16:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064884" "00064745" "1" "00006" "00006" "2016-05-10 21:35:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064885" "00064746" "1" "00006" "00006" "2016-05-10 21:39:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064886" "00064747" "1" "00006" "00006" "2016-05-10 21:43:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064887" "00064748" "1" "00006" "00006" "2016-05-10 21:47:02" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064888" "00064749" "1" "00006" "00006" "2016-05-10 21:50:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064889" "00064750" "1" "00006" "00006" "2016-05-10 21:55:23" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064890" "00064751" "1" "00006" "00006" "2016-05-10 21:59:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064891" "00064752" "1" "00006" "00006" "2016-05-10 22:02:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064892" "00064753" "1" "00006" "00006" "2016-05-10 22:06:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064893" "00064754" "1" "00006" "00006" "2016-05-10 22:10:23" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064894" "00064755" "1" "00006" "00006" "2016-05-10 22:13:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000064895" "00064756" "1" "00006" "00006" "2016-05-10 22:16:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000175759" "00174868" "1" "01807" "01807" "2018-08-14 11:05:31" "" "" "SEQ" "DNA" "" "" "0000321363" "00320178" "1" "01807" "01807" "2020-11-23 17:51:01" "" "" "SEQ" "DNA" "" "" "0000374946" "00373713" "1" "01864" "01864" "2021-05-19 03:40:06" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000437870" "00436388" "1" "01164" "01164" "2023-09-06 12:37:17" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000455100" "00453486" "1" "03544" "03544" "2024-09-06 14:15:44" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000466894" "00465244" "1" "03544" "03544" "2025-04-27 14:56:19" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000064882" "GNB1" "0000064884" "GNB1" "0000064885" "GNB1" "0000064886" "GNB1" "0000064887" "GNB1" "0000064888" "GNB1" "0000064889" "GNB1" "0000064890" "GNB1" "0000064891" "GNB1" "0000064892" "GNB1" "0000064893" "GNB1" "0000064894" "GNB1" "0000064895" "GNB1" "0000374946" "GNB1" "0000437870" "GNB1" ## 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 = 51 "{{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}}" "0000096537" "0" "90" "1" "1737954" "1737954" "subst" "0" "00006" "GNB1_000001" "g.1737954T>C" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1806515T>C" "" "pathogenic" "" "0000096538" "0" "90" "1" "1737948" "1737948" "subst" "0" "00006" "GNB1_000002" "g.1737948T>C" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1806509T>C" "" "pathogenic" "" "0000096539" "0" "90" "1" "1737942" "1737942" "subst" "4.0665E-6" "00006" "GNB1_000003" "g.1737942A>T" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1806503A>T" "" "pathogenic" "" "0000096540" "0" "90" "1" "1737942" "1737942" "subst" "0" "00006" "GNB1_000004" "g.1737942A>G" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1806503A>G" "" "pathogenic" "" "0000096541" "0" "90" "1" "1735987" "1735987" "subst" "0" "00006" "GNB1_000005" "g.1735987T>C" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1804548T>C" "" "pathogenic" "" "0000096542" "0" "90" "1" "1718817" "1718817" "subst" "0" "00006" "GNB1_000006" "g.1718817C>T" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1787378C>T" "" "pathogenic" "" "0000096543" "0" "90" "1" "1737953" "1737953" "subst" "0" "00006" "GNB1_000007" "g.1737953A>C" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1806514A>C" "" "pathogenic" "" "0000096544" "0" "90" "1" "1735987" "1735987" "subst" "0" "00006" "GNB1_000005" "g.1735987T>C" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1804548T>C" "" "pathogenic" "" "0000096545" "0" "90" "1" "1737952" "1737952" "subst" "0" "00006" "GNB1_000008" "g.1737952C>T" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1806513C>T" "" "pathogenic" "" "0000096546" "0" "90" "1" "1737942" "1737942" "subst" "0" "00006" "GNB1_000004" "g.1737942A>G" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1806503A>G" "" "pathogenic" "" "0000096547" "0" "90" "1" "1737942" "1737942" "subst" "0" "00006" "GNB1_000004" "g.1737942A>G" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1806503A>G" "" "pathogenic" "" "0000096548" "0" "90" "1" "1737942" "1737942" "subst" "4.0665E-6" "00006" "GNB1_000003" "g.1737942A>T" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1806503A>T" "" "pathogenic" "" "0000096550" "0" "90" "1" "1736004" "1736004" "subst" "0" "00006" "GNB1_000009" "g.1736004A>G" "1/5855 cases" "{PMID:Petrovski 2016:27108799}, {DOI:Petrovski 2016:10.1016/j.ajhg.2016.03.011}" "" "" "" "De novo" "" "" "0" "" "" "g.1804565A>G" "" "pathogenic" "" "0000284740" "0" "70" "1" "1735935" "1735935" "subst" "0" "02326" "GNB1_000012" "g.1735935T>C" "" "" "" "GNB1(NM_002074.3):c.353A>G (p.(Asp118Gly)), GNB1(NM_002074.5):c.353A>G (p.D118G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1804496T>C" "" "likely pathogenic" "" "0000288548" "0" "70" "1" "1724744" "1724750" "del" "0" "01943" "GNB1_000011" "g.1724744_1724750del" "" "" "" "GNB1(NM_002074.4):c.433_439delTACCTGT (p.Y145Pfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1793305_1793311del" "" "likely pathogenic" "" "0000320452" "0" "50" "1" "1737911" "1737913" "dup" "0" "01804" "GNB1_000013" "g.1737911_1737913dup" "" "" "" "GNB1(NM_002074.5):c.267+2_267+4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000350975" "0" "50" "1" "1724683" "1724683" "subst" "0" "02327" "GNB1_000014" "g.1724683C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1793244C>A" "" "VUS" "" "0000398629" "0" "90" "1" "1737951" "1737951" "subst" "0" "01807" "GNB1_000015" "g.1737951C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.1806512C>G" "" "pathogenic" "" "0000504296" "0" "70" "1" "1737948" "1737948" "subst" "0" "02329" "GNB1_000002" "g.1737948T>C" "" "" "" "GNB1(NM_002074.5):c.233A>G (p.K78R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1806509T>C" "" "likely pathogenic" "" "0000604986" "0" "50" "1" "1720575" "1720577" "del" "0" "02327" "GNB1_000017" "g.1720575_1720577del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1789136_1789138del" "" "VUS" "" "0000604993" "0" "70" "1" "1735941" "1735941" "subst" "0" "02327" "GNB1_000018" "g.1735941C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1804502C>T" "" "likely pathogenic" "" "0000653814" "0" "70" "1" "1747194" "1747194" "subst" "0" "02329" "GNB1_000019" "g.1747194C>T" "" "" "" "GNB1(NM_002074.5):c.203+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1815755C>T" "" "likely pathogenic" "" "0000675538" "0" "70" "1" "1721893" "1721893" "subst" "0" "02329" "GNB1_000020" "g.1721893G>A" "" "" "" "GNB1(NM_002074.5):c.640C>T (p.R214*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000675543" "0" "90" "1" "1735945" "1735954" "del" "0" "02330" "GNB1_000021" "g.1735945_1735954del" "" "" "" "GNB1(NM_002074.4):c.342_351delCGGTGGCCTG (p.C114Wfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000704192" "0" "70" "1" "1735941" "1735941" "subst" "0" "01807" "GNB1_000018" "g.1735941C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000716997" "0" "90" "1" "1737942" "1737942" "subst" "0" "02329" "GNB1_000004" "g.1737942A>G" "" "" "" "GNB1(NM_002074.5):c.239T>C (p.I80T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000785858" "0" "90" "1" "1737942" "1737942" "subst" "0" "01864" "GNB1_000004" "g.1737942A>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000798913" "0" "70" "1" "1735941" "1735941" "subst" "0" "02327" "GNB1_000022" "g.1735941C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000798917" "0" "70" "1" "1747244" "1747244" "subst" "0" "01943" "GNB1_000023" "g.1747244G>A" "" "" "" "GNB1(NM_002074.4):c.154C>T (p.R52W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000798918" "0" "30" "1" "1747257" "1747257" "subst" "0.000162458" "02326" "GNB1_000024" "g.1747257C>T" "" "" "" "GNB1(NM_002074.5):c.141G>A (p.T47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882930" "0" "30" "1" "1720508" "1720508" "subst" "0.00047143" "02330" "GNB1_000025" "g.1720508G>A" "" "" "" "GNB1(NM_002074.5):c.900C>T (p.L300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882931" "0" "30" "1" "1720670" "1720670" "subst" "0.00105688" "02330" "GNB1_000026" "g.1720670G>A" "" "" "" "GNB1(NM_002074.5):c.738C>T (p.D246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882932" "0" "10" "1" "1724686" "1724686" "subst" "0.000812015" "02330" "GNB1_000010" "g.1724686C>T" "" "" "" "GNB1(NM_002074.5):c.495G>A (p.T165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000882940" "0" "90" "1" "1736004" "1736004" "subst" "0" "02327" "GNB1_000009" "g.1736004A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882941" "0" "90" "1" "1737942" "1737942" "subst" "0" "02326" "GNB1_000004" "g.1737942A>G" "" "" "" "GNB1(NM_002074.5):c.239T>C (p.I80T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882950" "0" "30" "1" "1747248" "1747248" "subst" "1.6247E-5" "02330" "GNB1_000027" "g.1747248T>G" "" "" "" "GNB1(NM_002074.5):c.150A>C (p.T50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910844" "0" "70" "1" "1737964" "1737964" "subst" "0" "02327" "GNB1_000028" "g.1737964C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923005" "0" "50" "1" "1720530" "1720530" "subst" "0" "02327" "GNB1_000029" "g.1720530T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923006" "0" "50" "1" "1720564" "1720564" "subst" "0" "02325" "GNB1_000030" "g.1720564C>T" "" "" "" "GNB1(NM_002074.5):c.844G>A (p.G282R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928062" "0" "30" "1" "1724668" "1724668" "subst" "1.24207E-5" "02330" "GNB1_000031" "g.1724668C>T" "" "" "" "GNB1(NM_002074.5):c.497+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933299" "0" "50" "1" "1735902" "1735902" "subst" "4.06138E-6" "01164" "GNB1_000032" "g.1735902C>T" "" "" "" "" "ACMG: PS2_SUP, PM2_SUP, PP2" "De novo" "-" "" "" "" "" "g.1804463C>T" "VCV002477976.1" "VUS" "ACMG" "0000947040" "0" "30" "1" "1720703" "1720703" "subst" "0.000179519" "02330" "GNB1_000033" "g.1720703A>G" "" "" "" "GNB1(NM_002074.5):c.705T>C (p.F235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960646" "0" "50" "1" "1735945" "1735945" "subst" "0" "02325" "GNB1_000034" "g.1735945C>T" "" "" "" "GNB1(NM_002074.5):c.343G>A (p.G115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960649" "0" "30" "1" "1737971" "1737971" "subst" "9.77852E-5" "02330" "GNB1_000035" "g.1737971G>A" "" "" "" "GNB1(NM_002074.5):c.210C>T (p.L70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960650" "0" "30" "1" "1737984" "1737984" "subst" "7.35E-5" "02326" "GNB1_000036" "g.1737984G>T" "" "" "" "GNB1(NM_002074.5):c.204-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990559" "0" "90" "1" "1735935" "1735935" "subst" "0" "01804" "GNB1_000012" "g.1735935T>C" "" "" "" "GNB1(NM_002074.3):c.353A>G (p.(Asp118Gly)), GNB1(NM_002074.5):c.353A>G (p.D118G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990564" "0" "30" "1" "1747221" "1747221" "subst" "4.06339E-5" "02326" "GNB1_000037" "g.1747221G>A" "" "" "" "GNB1(NM_002074.5):c.177C>T (p.Y59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007104" "0" "90" "1" "1736002" "1736002" "subst" "0" "03544" "GNB1_000038" "g.1736002G>A" "" "" "" "" "" "De novo" "-" "rs2100699787" "0" "" "" "g.1804563G>A" "{CV:1334942}" "pathogenic" "ACMG" "0001013242" "0" "30" "1" "1747257" "1747257" "subst" "0.000162458" "02330" "GNB1_000024" "g.1747257C>T" "" "" "" "GNB1(NM_002074.5):c.141G>A (p.T47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024066" "0" "70" "1" "1737952" "1737952" "subst" "0" "02327" "GNB1_000008" "g.1737952C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001030932" "0" "70" "1" "1735990" "1735990" "subst" "0" "03544" "GNB1_000039" "g.1735990C>A" "" "" "" "" "inherited from mother with anxious and depressive disorder" "Germline" "-" "" "0" "" "" "g.1804551C>A" "" "likely pathogenic (!)" "ACMG" ## 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 GNB1 ## Count = 51 "{{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}}" "0000096537" "00008651" "90" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Asp76Gly)" "6" "0000096538" "00008651" "90" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Lys78Arg)" "6" "0000096539" "00008651" "90" "239" "0" "239" "0" "c.239T>A" "r.(?)" "p.(Ile80Asn)" "6" "0000096540" "00008651" "90" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Ile80Thr)" "6" "0000096541" "00008651" "90" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Met101Val)" "7" "0000096542" "00008651" "90" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Ala326Thr)" "11" "0000096543" "00008651" "90" "228" "0" "228" "0" "c.228T>G" "r.(?)" "p.(Asp76Glu)" "6" "0000096544" "00008651" "90" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Met101Val)" "7" "0000096545" "00008651" "90" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Gly77Ser)" "6" "0000096546" "00008651" "90" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Ile80Thr)" "6" "0000096547" "00008651" "90" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Ile80Thr)" "6" "0000096548" "00008651" "90" "239" "0" "239" "0" "c.239T>A" "r.(?)" "p.(Ile80Asn)" "6" "0000096550" "00008651" "90" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "7" "0000284740" "00008651" "70" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Asp118Gly)" "" "0000288548" "00008651" "70" "433" "0" "439" "0" "c.433_439del" "r.(?)" "p.(Tyr145ProfsTer42)" "" "0000320452" "00008651" "50" "267" "2" "267" "4" "c.267+2_267+4dup" "r.spl?" "p.?" "" "0000350975" "00008651" "50" "497" "1" "497" "1" "c.497+1G>T" "r.spl?" "p.?" "" "0000398629" "00008651" "90" "230" "0" "230" "0" "c.230G>C" "r.(?)" "p.(Gly77Ala)" "" "0000504296" "00008651" "70" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Lys78Arg)" "" "0000604986" "00008651" "50" "833" "0" "835" "0" "c.833_835del" "r.(?)" "p.(Phe278del)" "" "0000604993" "00008651" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "" "0000653814" "00008651" "70" "203" "1" "203" "1" "c.203+1G>A" "r.spl?" "p.?" "" "0000675538" "00008651" "70" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Arg214Ter)" "" "0000675543" "00008651" "90" "342" "0" "351" "0" "c.342_351del" "r.(?)" "p.(Cys114TrpfsTer10)" "" "0000704192" "00008651" "70" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "" "0000716997" "00008651" "90" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Ile80Thr)" "" "0000785858" "00008651" "90" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Ile80Thr)" "8" "0000798913" "00008651" "70" "347" "0" "347" "0" "c.347G>T" "r.(?)" "p.(Gly116Val)" "" "0000798917" "00008651" "70" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Arg52Trp)" "" "0000798918" "00008651" "30" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Thr47=)" "" "0000882930" "00008651" "30" "900" "0" "900" "0" "c.900C>T" "r.(?)" "p.(Leu300=)" "" "0000882931" "00008651" "30" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(Asp246=)" "" "0000882932" "00008651" "10" "495" "0" "495" "0" "c.495G>A" "r.(?)" "p.(Thr165=)" "" "0000882940" "00008651" "90" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "" "0000882941" "00008651" "90" "239" "0" "239" "0" "c.239T>C" "r.(?)" "p.(Ile80Thr)" "" "0000882950" "00008651" "30" "150" "0" "150" "0" "c.150A>C" "r.(?)" "p.(Thr50=)" "" "0000910844" "00008651" "70" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Ala73Thr)" "" "0000923005" "00008651" "50" "878" "0" "878" "0" "c.878A>C" "r.(?)" "p.(Asn293Thr)" "" "0000923006" "00008651" "50" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Gly282Arg)" "" "0000928062" "00008651" "30" "497" "16" "497" "16" "c.497+16G>A" "r.(=)" "p.(=)" "" "0000933299" "00008651" "50" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129His)" "" "0000947040" "00008651" "30" "705" "0" "705" "0" "c.705T>C" "r.(?)" "p.(=)" "" "0000960646" "00008651" "50" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Gly115Ser)" "" "0000960649" "00008651" "30" "210" "0" "210" "0" "c.210C>T" "r.(?)" "p.(=)" "" "0000960650" "00008651" "30" "204" "-7" "204" "-7" "c.204-7C>A" "r.(=)" "p.(=)" "" "0000990559" "00008651" "90" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Asp118Gly)" "" "0000990564" "00008651" "30" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(=)" "" "0001007104" "00008651" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Cys)" "7" "0001013242" "00008651" "30" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Thr47=)" "" "0001024066" "00008651" "70" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Gly77Ser)" "" "0001030932" "00008651" "70" "298" "0" "298" "0" "c.298G>T" "r.(?)" "p.(Val100Phe)" "7" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000064882" "0000096537" "0000064884" "0000096538" "0000064885" "0000096539" "0000064886" "0000096540" "0000064887" "0000096541" "0000064888" "0000096542" "0000064889" "0000096543" "0000064890" "0000096544" "0000064891" "0000096545" "0000064892" "0000096546" "0000064893" "0000096547" "0000064894" "0000096548" "0000064895" "0000096550" "0000175759" "0000398629" "0000321363" "0000704192" "0000374946" "0000785858" "0000437870" "0000933299" "0000455100" "0001007104" "0000466894" "0001030932"