### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = H3F3A) # 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}}" "H3F3A" "H3 histone, family 3A" "1" "q42.12" "unknown" "NC_000001.10" "UD_132319256894" "" "http://www.LOVD.nl/H3F3A" "" "1" "4764" "3020" "601128" "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/H3F3A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-12-24 13:26:16" "00006" "2025-06-19 10:59:02" ## 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}}" "00009120" "H3F3A" "H3 histone, family 3A" "001" "NM_002107.4" "" "NP_002098.1" "" "" "" "-128" "934" "411" "226250408" "226259703" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05199" "GLM" "glioma, susceptibility (GLM)" "" "" "brain" "" "" "00006" "2016-11-18 09:07:15" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07053" "BRYLIB1" "Bryant-Li-Bhoj neurodevelopmental syndrome, type 1" "AD" "619720" "" "" "" "00006" "2023-12-24 13:22:19" "00006" "2023-12-24 13:24:18" "07055" "BRYLIB" "Bryant-Li-Bhoj neurodevelopmental syndrome" "" "" "" "" "" "00006" "2023-12-24 13:24:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "H3F3A" "07053" "H3F3A" "07055" ## Individuals ## Do not remove or alter this header ## ## Count = 46 "{{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}}" "00088114" "" "" "" "35" "" "00006" "{PMID:Gielen 2013:23429371}" "129 glial tumor cases" "F;M" "" "Germany" "" "0" "" "" "" "" "00088115" "" "" "" "5" "" "00006" "{PMID:Gielen 2013:23429371}" "28 glial tumor cases" "F;M" "" "Germany" "" "0" "" "" "" "" "00088116" "" "" "" "7" "" "00006" "{PMID:Gielen 2013:23429371}" "glial tumor cases" "" "" "Germany" "" "0" "" "" "" "" "00088117" "" "" "" "1" "" "00006" "{PMID:Gielen 2013:23429371}" "glial tumor cases" "" "" "Germany" "" "0" "" "" "" "" "00444502" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "M" "" "France" "" "0" "" "" "" "Pat4" "00444504" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "F" "" "France" "" "0" "" "" "" "Pat6" "00465870" "" "" "" "1" "" "01164" "" "" "M" "?" "Syria" "" "0" "" "" "" "331975" "00465877" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00465878" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00465879" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00465880" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00465881" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00465882" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat6" "00465883" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00465884" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00465885" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00465886" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat10" "00465887" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat11" "00465888" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat12" "00465889" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat13" "00465890" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat14" "00465891" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat15" "00465892" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat16" "00465893" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat17" "00465894" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat18" "00465895" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat19" "00465896" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat20" "00465897" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat21" "00465898" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat22" "00465899" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat23" "00465900" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat24" "00465901" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat25" "00465902" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat26" "00465903" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat27" "00465904" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat28" "00465905" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat29" "00465906" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat30" "00465907" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat31" "00465908" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat32" "00465909" "" "" "" "1" "" "00006" "{PMID:Bryant 2020:33268356}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat33" "00465924" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat1" "00465925" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat2" "00465926" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat3" "00465927" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat4" "00465934" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "Pat11" "00465935" "" "" "" "1" "" "00006" "{PMID:Okur 2021:34876591}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "Pat12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 46 "{{individualid}}" "{{diseaseid}}" "00088114" "05199" "00088115" "05199" "00088116" "05199" "00088117" "05199" "00444502" "05611" "00444504" "05611" "00465870" "07055" "00465877" "05611" "00465878" "05611" "00465879" "05611" "00465880" "05611" "00465881" "05611" "00465882" "05611" "00465883" "05611" "00465884" "05611" "00465885" "05611" "00465886" "05611" "00465887" "05611" "00465888" "05611" "00465889" "05611" "00465890" "05611" "00465891" "05611" "00465892" "05611" "00465893" "05611" "00465894" "05611" "00465895" "05611" "00465896" "05611" "00465897" "05611" "00465898" "05611" "00465899" "05611" "00465900" "05611" "00465901" "05611" "00465902" "05611" "00465903" "05611" "00465904" "05611" "00465905" "05611" "00465906" "05611" "00465907" "05611" "00465908" "05611" "00465909" "05611" "00465924" "05611" "00465925" "05611" "00465926" "05611" "00465927" "05611" "00465934" "05611" "00465935" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05199, 05611, 07053, 07055 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000067620" "05199" "00088114" "00006" "Isolated (sporadic)" "" "glioblastoma multiforme (HP:0012174), WHO grade IV" "" "" "" "" "" "" "" "" "" "0000067621" "05199" "00088115" "00006" "Isolated (sporadic)" "" "anaplastic astrocytomas (HP:0009592), WHO grade III" "" "" "" "" "" "" "" "" "" "0000067622" "05199" "00088116" "00006" "Isolated (sporadic)" "" "glioblastoma multiforme (HP:0012174), WHO grade IV" "" "" "" "" "" "" "" "" "" "0000067623" "05199" "00088117" "00006" "Isolated (sporadic)" "" "anaplastic oligoastrocytomas, WHO grade III" "" "" "" "" "" "" "" "" "" "0000333755" "05611" "00444502" "00006" "Isolated (sporadic)" "02y-10y" "Moderate global developmental delay, severe language delay with first words at 3 years old, behavior troubles, stereotypy" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000333757" "05611" "00444504" "00006" "Isolated (sporadic)" "20y-40y" "Epileptic encephalopathy, facial dysmorphism, ventricular dilatation, myelination delay" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000351317" "07055" "00465870" "01164" "Unknown" "02y" "Delayed speech and language development, Neurodevelopmental delay, Delayed gross motor development, Overlapping toe, Abnormal cheek morphology, Abnormal skin morphology, Downslanted palpebral fissures, Gingival overgrowth" "" "" "" "" "" "" "" "" "" "0000351324" "05611" "00465924" "00006" "Isolated (sporadic)" "10y" "see paper; ..., prenatal unremarkable, uneventful; birth respiratory distress, difficulty feeding; short stature, failure to thrive; global developmental delay (gross/fine motor and speech), happy demeanor, water affinity; microcephaly, hypotonia, wide-based gait mild, spasticity lower extremities; MRI brain moderately diminished white matter in anterior halves both cerebral hemispheres along with hypomyelination accompanied by ventriculomegaly; facial asymmetry, hypoplastic helix, long and upslanting palpebral fissures, prognathia, long thin fingers, camptodactyly, fingertip pads; esotropia; joint hypermobility, pes planus; no cardiac anomalies" "" "" "" "" "" "" "" "BRYLIB1" "neurodegenerative delay" "0000351325" "05611" "00465925" "00006" "Isolated (sporadic)" "28y" "see paper; ..., intrauterine growth retardation; short stature; global developmental delay (gross motordelay, speech delay), intellectual disability, happy demeanor; microcephaly, hypotonia, hypertonia lower extremities, seizures, drooling, wide-based gait; brachycephaly, synophrys, mild hypotelorism, midface hypoplasia, open mouth appearance, full lips, protruding lower teeth, small hands/feet; no visual impairments; scoliosis; constipation; no cardiac anomalies; teeth issues" "" "" "" "" "" "" "" "BRYLIB1" "neurodegenerative delay" "0000351326" "05611" "00465926" "00006" "Isolated (sporadic)" "13y" "see paper; ..., prenatal unremarkable, uneventful; birth unremarkable; short stature, failure to thrive; global developmental delay (gross moto dealy, speech delay); microcephaly, hypotonia, seizures, drooling, ataxia; no dysmorphism; strabismus; joint hypermobility, pes planus; constipation, gastroesophageal reflux disease; no cardiac anomalies; sleep dysregulation, reduced sweating, erythema multiforme" "" "" "" "" "" "" "" "BRYLIB1" "neurodegenerative delay" "0000351327" "05611" "00465927" "00006" "Isolated (sporadic)" "4y6m" "see paper; ..., prenatal unremarkable, uneventful; premature birth; short stature, growth hormone deficiency, delayed bone age (-3 to -4 SD), failure to thrive; global developmental delay (gross motor delay, fine motor delay, speech delay) happy demeanor; relative macrocephaly, hypotonia (r>l), abnormal gait; MRI brain borderline, macrocephaly; facial asymmetry (r>l), slightly low-set ears, long eyelashes, open mouth appearance, pointed chin, bilateral branchial remnant (s/p) (more prominent on right), fingertip pads, small hands/feet; no visual impairments; mild asymmetry ower extremities (r>l), mild pes planus; resolved pulmonary artery branch stenosis, resolved premature atrial contractions; delayed teeth eruption, chronic dysfunction of eustachian tubes, adenoid hypertrophy" "" "" "" "" "" "" "" "BRYLIB1" "neurodegenerative delay" "0000351334" "05611" "00465934" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "BRYLIB1" "neurodegenerative delay" "0000351335" "05611" "00465935" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "BRYLIB1" "neurodegenerative delay" ## Screenings ## Do not remove or alter this header ## ## Count = 46 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000088254" "00088114" "1" "00006" "00006" "2016-11-18 09:07:51" "" "" "SEQ" "DNA" "" "" "0000088255" "00088115" "1" "00006" "00006" "2016-11-18 09:14:33" "" "" "SEQ" "DNA" "" "" "0000088256" "00088116" "1" "00006" "00006" "2016-11-18 09:23:18" "" "" "SBE" "DNA" "" "" "0000088257" "00088117" "1" "00006" "00006" "2016-11-18 09:27:06" "" "" "SEQ" "DNA" "" "" "0000446070" "00444502" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "SEQ-NG" "DNA" "" "WES, WGS trio" "0000446072" "00444504" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "SEQ-NG" "DNA" "" "WES, WGS trio" "0000467522" "00465870" "1" "01164" "01164" "2025-06-12 15:15:23" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000467529" "00465877" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467530" "00465878" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467531" "00465879" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467532" "00465880" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467533" "00465881" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467534" "00465882" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467535" "00465883" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467536" "00465884" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467537" "00465885" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467538" "00465886" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467539" "00465887" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467540" "00465888" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467541" "00465889" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467542" "00465890" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467543" "00465891" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467544" "00465892" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467545" "00465893" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467546" "00465894" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467547" "00465895" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467548" "00465896" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467549" "00465897" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467550" "00465898" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467551" "00465899" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467552" "00465900" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467553" "00465901" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467554" "00465902" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467555" "00465903" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467556" "00465904" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467557" "00465905" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467558" "00465906" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467559" "00465907" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467560" "00465908" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467561" "00465909" "1" "00006" "00006" "2025-06-18 10:58:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467576" "00465924" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467577" "00465925" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467578" "00465926" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467579" "00465927" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467586" "00465934" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467587" "00465935" "1" "00006" "00006" "2025-06-19 10:58:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000088254" "H3F3A" "0000088255" "H3F3A" "0000088256" "H3F3A" "0000088257" "H3F3A" "0000467522" "H3F3A" ## 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 = 52 "{{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}}" "0000141586" "0" "70" "1" "226252135" "226252135" "subst" "0" "00006" "H3F3A_000001" "g.226252135A>T" "35/129 cases" "{PMID:Gielen 2013:23429371}" "" "AAG.ATG (K27M)" "" "Somatic" "" "" "0" "" "" "g.226064434A>T" "" "likely pathogenic" "" "0000141587" "0" "70" "1" "226252135" "226252135" "subst" "0" "00006" "H3F3A_000001" "g.226252135A>T" "5/28 cases" "{PMID:Gielen 2013:23429371}" "" "AAG>ATG (K27M)" "" "Somatic" "-" "" "0" "" "" "g.226064434A>T" "" "likely pathogenic" "" "0000141588" "0" "70" "1" "226252155" "226252155" "subst" "0" "00006" "H3F3A_000002" "g.226252155G>C" "7/129 cases" "{PMID:Gielen 2013:23429371}" "" "G34R" "" "Somatic" "-" "" "0" "" "" "g.226064454G>C" "" "likely pathogenic" "" "0000141589" "0" "70" "1" "226252155" "226252155" "subst" "0" "00006" "H3F3A_000002" "g.226252155G>C" "1/6 cases" "{PMID:Gielen 2013:23429371}" "" "G34R" "" "Somatic" "-" "" "0" "" "" "g.226064454G>C" "" "likely pathogenic" "" "0000251209" "0" "10" "1" "226259229" "226259229" "del" "0" "02326" "H3F3A_000004" "g.226259229del" "" "" "" "H3-3A(NM_002107.6):c.*49delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226071528del" "" "benign" "" "0000288923" "0" "50" "1" "226253499" "226253499" "subst" "0" "01943" "H3F3A_000003" "g.226253499G>C" "" "" "" "H3F3A(NM_002107.5):c.271G>C (p.G91R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226065798G>C" "" "VUS" "" "0000349529" "0" "50" "1" "226253365" "226253365" "subst" "0" "02327" "H3F3A_000005" "g.226253365C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226065664C>T" "" "VUS" "" "0000505712" "0" "50" "1" "226252147" "226252147" "subst" "0" "01943" "H3F3A_000006" "g.226252147C>T" "" "" "" "H3F3A(NM_002107.5):c.95C>T (p.S32F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226064446C>T" "" "VUS" "" "0000505713" "0" "50" "1" "226259095" "226259095" "subst" "0" "01943" "H3F3A_000007" "g.226259095A>G" "" "" "" "H3F3A(NM_002107.5):c.326A>G (p.N109S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226071394A>G" "" "VUS" "" "0000954328" "0" "90" "1" "226259121" "226259121" "subst" "0" "00006" "H3F3A_000008" "g.226259121G>C" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PP2, PS2, PM2, PP3, PM1; exon not covered by WES" "De novo" "" "" "0" "" "" "g.226071420G>C" "" "pathogenic" "ACMG" "0000954330" "0" "90" "1" "226259146" "226259146" "subst" "0" "00006" "H3F3A_000009" "g.226259146A>G" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PS2, PM1, PM2, PP2, PP3; exon not covered by WES" "De novo" "" "" "0" "" "" "g.226071445A>G" "" "pathogenic" "ACMG" "0000973725" "0" "30" "1" "226252023" "226252023" "subst" "2.53413E-5" "01804" "H3F3A_000010" "g.226252023C>T" "" "" "" "H3F3A(NM_002107.7):c.-23-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045352" "0" "70" "1" "226259095" "226259095" "subst" "0" "01164" "H3F3A_000007" "g.226259095A>G" "" "" "" "" "ACMG: PS2_VSTR, PM2_SUP, PP2, confirmed de novo; PMID 33268356" "De novo" "-" "" "0" "" "" "g.226071394A>G" "" "pathogenic (dominant)" "ACMG" "0001045375" "0" "90" "1" "226252077" "226252077" "subst" "0" "00006" "H3F3A_000011" "g.226252077C>A" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226064376C>A" "" "pathogenic (dominant)" "" "0001045376" "0" "90" "1" "226252077" "226252077" "subst" "0" "00006" "H3F3A_000012" "g.226252077C>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226064376C>G" "" "pathogenic (dominant)" "" "0001045377" "0" "90" "1" "226252099" "226252099" "subst" "0" "00006" "H3F3A_000013" "g.226252099C>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226064398C>G" "" "pathogenic (dominant)" "" "0001045378" "0" "90" "1" "226252104" "226252104" "subst" "0" "00006" "H3F3A_000014" "g.226252104A>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226064403A>G" "" "pathogenic (dominant)" "" "0001045379" "0" "90" "1" "226252104" "226252104" "subst" "0" "00006" "H3F3A_000014" "g.226252104A>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226064403A>G" "" "pathogenic (dominant)" "" "0001045380" "0" "90" "1" "226252120" "226252120" "subst" "0" "00006" "H3F3A_000015" "g.226252120C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226064419C>T" "" "pathogenic (dominant)" "" "0001045381" "0" "90" "1" "226252140" "226252140" "subst" "0" "00006" "H3F3A_000016" "g.226252140G>A" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226064439G>A" "" "pathogenic (dominant)" "" "0001045382" "0" "90" "1" "226252147" "226252147" "subst" "0" "00006" "H3F3A_000006" "g.226252147C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226064446C>T" "" "pathogenic (dominant)" "" "0001045383" "0" "90" "1" "226252161" "226252161" "subst" "0" "00006" "H3F3A_000017" "g.226252161A>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226064460A>G" "" "pathogenic (dominant)" "" "0001045384" "0" "90" "1" "226252170" "226252170" "subst" "0" "00006" "H3F3A_000018" "g.226252170C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226064469C>T" "" "pathogenic (dominant)" "" "0001045385" "0" "90" "1" "226253365" "226253365" "subst" "0" "00006" "H3F3A_000005" "g.226253365C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226065664C>T" "" "pathogenic (dominant)" "" "0001045386" "0" "90" "1" "226253365" "226253365" "subst" "0" "00006" "H3F3A_000005" "g.226253365C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226065664C>T" "" "pathogenic (dominant)" "" "0001045387" "0" "90" "1" "226253365" "226253365" "subst" "0" "00006" "H3F3A_000005" "g.226253365C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226065664C>T" "" "pathogenic (dominant)" "" "0001045388" "0" "90" "1" "226253365" "226253365" "subst" "0" "00006" "H3F3A_000005" "g.226253365C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226065664C>T" "" "pathogenic (dominant)" "" "0001045389" "0" "90" "1" "226253413" "226253413" "subst" "0" "00006" "H3F3A_000021" "g.226253413T>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226065712T>G" "" "pathogenic (dominant)" "" "0001045390" "0" "90" "1" "226253460" "226253460" "subst" "0" "00006" "H3F3A_000022" "g.226253460G>A" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226065759G>A" "" "pathogenic (dominant)" "" "0001045391" "0" "90" "1" "226253472" "226253472" "subst" "0" "00006" "H3F3A_000023" "g.226253472G>C" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226065771G>C" "" "pathogenic (dominant)" "" "0001045392" "0" "90" "1" "226253478" "226253478" "subst" "0" "00006" "H3F3A_000024" "g.226253478C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226065777C>T" "" "pathogenic (dominant)" "" "0001045393" "0" "90" "1" "226253478" "226253478" "subst" "0" "00006" "H3F3A_000024" "g.226253478C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226065777C>T" "" "pathogenic (dominant)" "" "0001045394" "0" "90" "1" "226253499" "226253499" "subst" "0" "00006" "H3F3A_000003" "g.226253499G>C" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226065798G>C" "" "pathogenic (dominant)" "" "0001045395" "0" "90" "1" "226259095" "226259095" "subst" "0" "00006" "H3F3A_000007" "g.226259095A>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071394A>G" "" "pathogenic (dominant)" "" "0001045396" "0" "90" "1" "226259106" "226259106" "subst" "0" "00006" "H3F3A_000025" "g.226259106A>C" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071405A>C" "" "pathogenic (dominant)" "" "0001045397" "0" "90" "1" "226259106" "226259106" "subst" "0" "00006" "H3F3A_000026" "g.226259106A>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071405A>G" "" "pathogenic (dominant)" "" "0001045398" "0" "90" "1" "226259121" "226259121" "subst" "0" "00006" "H3F3A_000008" "g.226259121G>C" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071420G>C" "" "pathogenic (dominant)" "" "0001045399" "0" "90" "1" "226259132" "226259132" "subst" "0" "00006" "H3F3A_000028" "g.226259132G>A" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071431G>A" "" "pathogenic (dominant)" "" "0001045400" "0" "90" "1" "226259131" "226259131" "subst" "4.4798E-6" "00006" "H3F3A_000027" "g.226259131T>A" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071430T>A" "" "pathogenic (dominant)" "" "0001045401" "0" "90" "1" "226259134" "226259134" "subst" "0" "00006" "H3F3A_000029" "g.226259134C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071433C>T" "" "pathogenic (dominant)" "" "0001045402" "0" "90" "1" "226259134" "226259134" "subst" "0" "00006" "H3F3A_000030" "g.226259134C>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071433C>G" "" "pathogenic (dominant)" "" "0001045403" "0" "90" "1" "226259146" "226259146" "subst" "0" "00006" "H3F3A_000009" "g.226259146A>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071445A>G" "" "pathogenic (dominant)" "" "0001045404" "0" "90" "1" "226259146" "226259146" "subst" "0" "00006" "H3F3A_000009" "g.226259146A>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071445A>G" "" "pathogenic (dominant)" "" "0001045405" "0" "90" "1" "226259146" "226259146" "subst" "0" "00006" "H3F3A_000009" "g.226259146A>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071445A>G" "" "pathogenic (dominant)" "" "0001045406" "0" "90" "1" "226259146" "226259146" "subst" "0" "00006" "H3F3A_000009" "g.226259146A>G" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071445A>G" "" "pathogenic (dominant)" "" "0001045407" "0" "90" "1" "226259154" "226259154" "subst" "0" "00006" "H3F3A_000031" "g.226259154C>T" "" "{PMID:Bryant 2020:33268356}" "" "" "" "De novo" "" "" "0" "" "" "g.226071453C>T" "" "pathogenic (dominant)" "" "0001045424" "0" "90" "1" "226253394" "226253394" "subst" "0" "00006" "H3F3A_000020" "g.226253394C>A" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.226065693C>A" "" "pathogenic (dominant)" "" "0001045425" "0" "90" "1" "226253499" "226253499" "subst" "0" "00006" "H3F3A_000003" "g.226253499G>C" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.226065798G>C" "" "pathogenic (dominant)" "" "0001045426" "0" "90" "1" "226259134" "226259134" "subst" "0" "00006" "H3F3A_000029" "g.226259134C>T" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.226071433C>T" "" "pathogenic (dominant)" "" "0001045427" "0" "90" "1" "226259155" "226259155" "subst" "0" "00006" "H3F3A_000032" "g.226259155G>A" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.226071454G>A" "" "pathogenic (dominant)" "" "0001045434" "0" "90" "1" "226252173" "226252173" "subst" "0" "00006" "H3F3A_000019" "g.226252173C>T" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.226064472C>T" "" "pathogenic (dominant)" "" "0001045435" "0" "90" "1" "226259132" "226259132" "subst" "0" "00006" "H3F3A_000028" "g.226259132G>A" "" "{PMID:Okur 2021:34876591}" "" "" "" "De novo" "" "" "0" "" "" "g.226071431G>A" "" "pathogenic (dominant)" "" ## 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 H3F3A ## Count = 52 "{{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}}" "0000141586" "00009120" "70" "83" "0" "83" "0" "c.83A>T" "r.(?)" "p.(Lys28Met)" "2" "0000141587" "00009120" "70" "83" "0" "83" "0" "c.83A>T" "r.(?)" "p.(Lys28Met)" "2" "0000141588" "00009120" "70" "103" "0" "103" "0" "c.103G>C" "r.(?)" "p.(Gly35Arg)" "2" "0000141589" "00009120" "70" "103" "0" "103" "0" "c.103G>C" "r.(?)" "p.(Gly35Arg)" "2" "0000251209" "00009120" "10" "460" "0" "460" "0" "c.*49del" "r.(?)" "p.(=)" "" "0000288923" "00009120" "50" "271" "0" "271" "0" "c.271G>C" "r.(?)" "p.(Gly91Arg)" "" "0000349529" "00009120" "50" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Thr46Ile)" "" "0000505712" "00009120" "50" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Ser32Phe)" "" "0000505713" "00009120" "50" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Asn109Ser)" "" "0000954328" "00009120" "90" "352" "0" "352" "0" "c.352G>C" "r.(?)" "p.(Val118Leu)" "" "0000954330" "00009120" "90" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(Gln126Arg)" "" "0000973725" "00009120" "30" "-23" "-7" "-23" "-7" "c.-23-7C>T" "r.(=)" "p.(=)" "" "0001045352" "00009120" "70" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Asn109Ser)" "4" "0001045375" "00009120" "90" "25" "0" "25" "0" "c.25C>A" "r.(?)" "p.(Arg9Ser)" "" "0001045376" "00009120" "90" "25" "0" "25" "0" "c.25C>G" "r.(?)" "p.(Arg9Gly)" "" "0001045377" "00009120" "90" "47" "0" "47" "0" "c.47C>G" "r.(?)" "p.(Ala16Gly)" "" "0001045378" "00009120" "90" "52" "0" "52" "0" "c.52A>G" "r.(?)" "p.(Arg18Gly)" "" "0001045379" "00009120" "90" "52" "0" "52" "0" "c.52A>G" "r.(?)" "p.(Arg18Gly)" "" "0001045380" "00009120" "90" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Thr23Ile)" "" "0001045381" "00009120" "90" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Ala30Thr)" "" "0001045382" "00009120" "90" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Ser32Phe)" "" "0001045383" "00009120" "90" "109" "0" "109" "0" "c.109A>G" "r.(?)" "p.(Lys37Glu)" "" "0001045384" "00009120" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(His40Tyr)" "" "0001045385" "00009120" "90" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Thr46Ile)" "" "0001045386" "00009120" "90" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Thr46Ile)" "" "0001045387" "00009120" "90" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Thr46Ile)" "" "0001045388" "00009120" "90" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Thr46Ile)" "" "0001045389" "00009120" "90" "185" "0" "185" "0" "c.185T>G" "r.(?)" "p.(Leu62Arg)" "" "0001045390" "00009120" "90" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Asp78Asn)" "" "0001045391" "00009120" "90" "244" "0" "244" "0" "c.244G>C" "r.(?)" "p.(Asp82His)" "" "0001045392" "00009120" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Cys)" "" "0001045393" "00009120" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Cys)" "" "0001045394" "00009120" "90" "271" "0" "271" "0" "c.271G>C" "r.(?)" "p.(Gly91Arg)" "" "0001045395" "00009120" "90" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Asn109Ser)" "" "0001045396" "00009120" "90" "337" "0" "337" "0" "c.337A>C" "r.(?)" "p.(Ile113Leu)" "" "0001045397" "00009120" "90" "337" "0" "337" "0" "c.337A>G" "r.(?)" "p.(Ile113Val)" "" "0001045398" "00009120" "90" "352" "0" "352" "0" "c.352G>C" "r.(?)" "p.(Val118Leu)" "" "0001045399" "00009120" "90" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Met121Ile)" "" "0001045400" "00009120" "90" "362" "0" "362" "0" "c.362T>A" "r.(?)" "p.(Met121Lys)" "" "0001045401" "00009120" "90" "365" "0" "365" "0" "c.365C>T" "r.(?)" "p.(Pro122Leu)" "" "0001045402" "00009120" "90" "365" "0" "365" "0" "c.365C>G" "r.(?)" "p.(Pro122Arg)" "" "0001045403" "00009120" "90" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(Gln126Arg)" "" "0001045404" "00009120" "90" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(Gln126Arg)" "" "0001045405" "00009120" "90" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(Gln126Arg)" "" "0001045406" "00009120" "90" "377" "0" "377" "0" "c.377A>G" "r.(?)" "p.(Gln126Arg)" "" "0001045407" "00009120" "90" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Arg129Cys)" "" "0001045424" "00009120" "90" "166" "0" "166" "0" "c.166C>A" "r.(?)" "p.(Gln56Lys)" "" "0001045425" "00009120" "90" "271" "0" "271" "0" "c.271G>C" "r.(?)" "p.(Gly91Arg)" "" "0001045426" "00009120" "90" "365" "0" "365" "0" "c.365C>T" "r.(?)" "p.(Pro122Leu)" "" "0001045427" "00009120" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129His)" "" "0001045434" "00009120" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Cys)" "" "0001045435" "00009120" "90" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Met121Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000088254" "0000141586" "0000088255" "0000141587" "0000088256" "0000141588" "0000088257" "0000141589" "0000446070" "0000954328" "0000446072" "0000954330" "0000467522" "0001045352" "0000467529" "0001045375" "0000467530" "0001045376" "0000467531" "0001045377" "0000467532" "0001045378" "0000467533" "0001045379" "0000467534" "0001045380" "0000467535" "0001045381" "0000467536" "0001045382" "0000467537" "0001045383" "0000467538" "0001045384" "0000467539" "0001045385" "0000467540" "0001045386" "0000467541" "0001045387" "0000467542" "0001045388" "0000467543" "0001045389" "0000467544" "0001045390" "0000467545" "0001045391" "0000467546" "0001045392" "0000467547" "0001045393" "0000467548" "0001045394" "0000467549" "0001045395" "0000467550" "0001045396" "0000467551" "0001045397" "0000467552" "0001045398" "0000467553" "0001045399" "0000467554" "0001045400" "0000467555" "0001045401" "0000467556" "0001045402" "0000467557" "0001045403" "0000467558" "0001045404" "0000467559" "0001045405" "0000467560" "0001045406" "0000467561" "0001045407" "0000467576" "0001045424" "0000467577" "0001045425" "0000467578" "0001045426" "0000467579" "0001045427" "0000467586" "0001045434" "0000467587" "0001045435"