### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MACF1) # 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}}" "MACF1" "microtubule-actin crosslinking factor 1" "1" "p32-p31" "unknown" "NC_000001.10" "UD_132319057830" "" "https://www.LOVD.nl/MACF1" "" "1" "13664" "23499" "608271" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-10-13 14:01:38" "00000" "2025-11-01 13:22:20" ## 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}}" "00025926" "MACF1" "transcript variant 2 (removed from reference sequence)" "000" "NM_001394062.1" "" "NP_001380991.1" "" "" "MANE select" "-328" "24012" "22668" "1" "1" "00006" "2024-05-22 09:07:24" "" "" ## 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}}" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "05362" "LIS" "lissencephaly" "" "" "" "" "" "00006" "2017-12-29 12:16:43" "00006" "2023-11-27 09:41:55" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06047" "LIS9" "Lissencephaly 9 with complex brainstem malformation" "AD" "618325" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MACF1" "05362" "MACF1" "06047" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "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" "00449874" "" "" "" "1" "" "04653" "" "" "M" "" "" "" "" "" "" "" "" "00459421" "" "" "" "1" "" "00006" "{PMID:Bayam 2024:39609633}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Brazil" "" "0" "" "" "Minas Gerais" "Fam5PatII1" "00467475" "" "" "" "1" "" "00006" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "India" "" "0" "" "" "white" "LR14-088" "00467476" "" "" "" "1" "" "00006" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "white" "LR17-434" "00467477" "" "" "" "1" "" "00006" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "white" "LR16-306" "00467478" "" "" "" "1" "" "00006" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Poland" "" "0" "" "" "white" "LR17-450" "00467479" "" "" "" "1" "" "00006" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "white;Hispanic" "LR04-067a1" "00467480" "" "" "" "1" "" "00006" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "white;Hispanic" "LR04-067a2" "00467481" "" "" "" "1" "" "00006" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Syria" "" "0" "" "" "white" "LR18-077" "00467482" "" "" "" "1" "" "00006" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Japan" "" "0" "" "" "Asia" "LR18-070" "00467483" "" "" "" "1" "" "00006" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Philippines" "" "0" "" "" "white;Asia" "LR16-412" "00467484" "" "" "" "1" "" "00006" "{PMID:Kenny 2014:24126926}" "" "" "" "Ireland" "" "0" "" "" "" "" "00467485" "" "" "" "1" "" "00006" "{PMID:Wang 2015:26666178}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "China" "" "0" "" "" "" "" "00467486" "" "" "" "1" "" "00006" "{PMID:Xu 2012:23042115}" "" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00443871" "06906" "00443872" "06906" "00449874" "00212" "00459421" "05611" "00467475" "05362" "00467476" "05362" "00467477" "05362" "00467478" "05362" "00467479" "05362" "00467480" "05362" "00467481" "05362" "00467482" "05362" "00467483" "05362" "00467484" "05611" "00467485" "00212" "00467486" "00212" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00212, 05362, 05611, 06047, 06906 ## Count = 16 "{{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}}" "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" "0000339021" "00212" "00449874" "04653" "Isolated (sporadic)" "" "Schizophrenia, Global developmental delay, Attention deficit hyperactivity disorder, Autism," "" "" "" "" "" "" "" "" "" "0000347497" "05611" "00459421" "00006" "Familial, autosomal recessive" "2y5m" "see paper; ..., gestational diabetes 3rd trimester (dietary treatment), normal fetal movements, 4m-gestational ultrassound ventriculomegaly; birth 39w, C-section, weight 3.02kg, length 50.8cm, OFC 33cm; weight 14.2kg (+0.54 SD), length 94cm (+0.85 SD), OFC 46.5cm (-1.73 SD); global developmental delay, only sustains neck; no sit, no walk; no speech, only sounds; prenatal ventriculomegaly; MRI brain head circumference, reduced white matter, hypoplastic corpus callosum and reduced brainstem volume, ventriculomegaly without hydrocephalus, Inspecific hypersignal areas white matter; EEG hypsarrhythmia, disorganized baseline activity, frequent multifocal epileptiform paroxysms with variable morphology; coordination poor; axial hypotonia, apendicular hypertonia; no hyperreflexia; no ataxia; global developmental delay; epileptic crisis initially diagnosed at 3/4m of age, refractory seizures; suspicion of dystonia; significant feeding difficulty first few months of life, 5m-fundoplication surgery and gastrostomy with adequate weight gain since; normal cardiologic evaluation; significant strabismus, normal gastrourogenital tract, normal ocular fundoscopy, normal hearing screening tests" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000352682" "05362" "00467475" "00006" "Isolated (sporadic)" "5y" "see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum moderate vermis hypoplasia, moderate hemisphere hypoplasia, foliar dysplasia; birth OFC 36 cm (SD+1.1); weight 13.7 kg (SD−1.7), height 105 cm (SD−0.5), OFC 50.5 cm (SD0); global developmental delay; hypotonia; no spasticity; 1y-sit; 3y-walk; speech >40 words; severe intellectual disability; 5m-onset seizures, seizures, infantile spasm; hand flapping; cortical visual impairment, left optic-nerve hypoplasia; abnormal eye movements; left exotropia; no feeding abnormality; ventriculoseptal defect" "" "" "" "" "" "" "" "LIS9" "lissencephaly" "0000352683" "05362" "00467476" "00006" "Isolated (sporadic)" "7y6m" "see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 28 kg (SD+1), height 128 cm (SD0), OFC 53 cm (SD+0.7); global developmental delay; hypotonia; no spasticity; not sitting; not walking; speech 10 syllables; severe intellectual disability; 6m-onset seizures, seizures, infantile spasm, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; mixed dyskinesia; no vision abnormalities; abnormal eye movements; exotropia; impaired feeding (gastrostomy tube)" "" "" "" "" "" "" "" "LIS9" "lissencephaly" "0000352684" "05362" "00467477" "00006" "Isolated (sporadic)" "5y6m" "see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thick lissencephaly cortical thickness (10-15 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, absent base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 13.5 kg (SD+1.7), height 103 cm (SD−1), OFC 45.5 cm (SD−1); global developmental delay; hypotonia; no spasticity; not sitting; not walking; no speech; severe intellectual disability; 3m-onset seizures, SE, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; cortical visual impairment; normal eye movements; impaired feeding (gastrostomy tube)" "" "" "" "" "" "" "" "LIS9" "lissencephaly" "0000352685" "05362" "00467478" "00006" "Isolated (sporadic)" "7y" "see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thick lissencephaly cortical thickness (10-15 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem thick tectume, severe narrowing of pons, wide pons/medulla, absent base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; birth OFC 31 cm (SD−1); weight 14 kg (SD−3), height 116 cm (SD−1), OFC 47 cm (SD+0.5); global developmental delay; hypotonia; no spasticity; not sitting; not walking; no speech; severe intellectual disability; 3m-onset seizures, myoclonic seizure; no dyskinesia; no vision abnormalities; normal eye movements; no strabismus; no feeding abnormality" "" "" "" "" "" "" "" "LIS9" "lissencephaly" "0000352686" "05362" "00467479" "00006" "Isolated (sporadic)" "16y" "see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient equal to anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; borderline thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; 32.5 cm (SD−1.5); weight 35.2 kg (SD−3), height 150 cm (SD−2), OFC 49.5 cm (SD−4); global developmental delay; hypotonia; spasticity; 1y-sit; 5y-walk; speech 3 words; severe intellectual disability; 7m-onset seizures, focal seizure with impaired awareness, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; mixed dyskinesia; no vision abnormalities; nystagmus horizontal" "" "" "" "" "" "" "" "LIS9" "lissencephaly" "0000352687" "05362" "00467480" "00006" "Isolated (sporadic)" "16y" "see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient equal to anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; borderline thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 29.0 kg (SD−4), height 137 cm (SD−4), OFC 47.7 cm (SD−5); global developmental delay; hypotonia; spasticity; not sitting; not walking; speech 3 words; severe intellectual disability; 5m-onset seizures, focal seizure with impaired awareness, focal tonic-clonic seizure, generalized tonic-clonic seizure; mixed dyskinesia; no vision abnormalities; esotropia" "" "" "" "" "" "" "" "LIS9" "lissencephaly" "0000352688" "05362" "00467481" "00006" "Isolated (sporadic)" "7y" "see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin mild diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum moderate vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 22 kg (SD−0.4), height 50 cm (SD−2); global developmental delay; hypotonia; spasticity (legs); 1y6m-sit; 7y-walks few steps; no speech; severe intellectual disability; 6m-onset seizures, probable generalized tonic-clonic seizure; mixed dyskinesia; eye movements slow tracking; no feeding abnormality; dysmorphic (hypertelorism, low nasal bridge, epicanthal folds, low-set ears)" "" "" "" "" "" "" "" "LIS9" "lissencephaly" "0000352689" "05362" "00467482" "00006" "Isolated (sporadic)" "2y6m" "see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), subtle hippocampal dysplasia, thin white matter; thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, tiny base of pons, severe pontine hypoplasia; cerebellum no vermis hypoplasia, no hemisphere hypoplasia, foliar dysplasia; birth OFC 33.5 cm (SD+0.4); weight 10.0 kg (SD−1.6), height 82.5 cm (SD−1.6), OFC 47.2 cm (SD−0.4); global developmental delay; no hypotonia; no spasticity; 1y-sit; 3y-walk with support; no speech; severe intellectual disability; 5y-onset seizures, myoclonic seizure, generalized tonic-clonic seizure; hand waving; eye movements abduction limited (ocular abduction limited to half normal excursion); no feeding abnormality" "" "" "" "" "" "" "" "LIS9" "lissencephaly" "0000352690" "05362" "00467483" "00006" "Isolated (sporadic)" "5y" "see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 mm), subtle hippocampal dysplasia, thin white matter; normal anterior commissure, thin mild diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, normal pons, subtle wide pons/medulla, normal base of pons, no pontine hypoplasia; cerebellum normal vermis, normal hemisphere, no foliar dysplasia; weight 20.4 kg (SD+0.7), height 107.9 cm (SD−0.1), OFC 51.3 cm (SD0); mild developmental delay; no hypotonia; no spasticity; 7m-sit; 1y6m-walk; 1y6m-speech; severe intellectual disability; 4y3m-onset seizures, focal seizure with impaired awareness, generalized tonic-clonic seizure; no dyskinesia; no vision abnormalities; normal eye movements; no strabismus; no feeding abnormality" "" "" "" "" "" "" "" "LIS9" "lissencephaly" "0000352691" "05611" "00467484" "00006" "Unknown" "" "seizures" "" "" "" "" "" "" "" "" "seizures" "0000352692" "00212" "00467485" "00006" "Isolated (sporadic)" "" "schizophrenia" "" "" "" "" "" "" "" "" "schizophrenia" "0000352693" "00212" "00467486" "00006" "Isolated (sporadic)" "" "schizophrenia" "" "" "" "" "" "" "" "" "schizophrenia" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "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" "0000451470" "00449874" "1" "04653" "04653" "2024-05-21 17:40:17" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000461044" "00459421" "1" "00006" "00006" "2024-12-27 14:26:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469138" "00467475" "1" "00006" "00006" "2025-10-13 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES, WGS" "0000469139" "00467476" "1" "00006" "00006" "2025-10-13 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469140" "00467477" "1" "00006" "00006" "2025-10-13 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469141" "00467478" "1" "00006" "00006" "2025-10-13 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000469142" "00467479" "1" "00006" "00006" "2025-10-13 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469143" "00467480" "1" "00006" "00006" "2025-10-13 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469144" "00467481" "1" "00006" "00006" "2025-10-13 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469145" "00467482" "1" "00006" "00006" "2025-10-13 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES, WGS" "0000469146" "00467483" "1" "00006" "00006" "2025-10-13 21:41:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469147" "00467484" "1" "00006" "00006" "2025-10-13 22:00:59" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000469148" "00467485" "1" "00006" "00006" "2025-10-13 22:09:23" "" "" "SEQ-NG" "DNA" "" "WES" "0000469149" "00467486" "1" "00006" "00006" "2025-10-13 22:15:08" "" "" "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 = 111 "{{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}}" "0000947243" "0" "50" "1" "39749772" "39749772" "subst" "0" "02325" "KIAA0754_000113" "g.39749772G>T" "" "" "" "MACF1(NM_012090.5):c.965G>T (p.R322L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947244" "0" "30" "1" "39816571" "39816571" "subst" "9.75158E-5" "02325" "KIAA0754_000114" "g.39816571C>T" "" "" "" "MACF1(NM_012090.5):c.4894C>T (p.L1632F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947245" "0" "30" "1" "39816626" "39816626" "subst" "0.00019507" "02325" "KIAA0754_000115" "g.39816626C>T" "" "" "" "MACF1(NM_012090.5):c.4949C>T (p.T1650I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947246" "0" "50" "1" "39824450" "39824450" "subst" "0" "02325" "KIAA0754_000116" "g.39824450T>C" "" "" "" "MACF1(NM_012090.5):c.5839T>C (p.W1947R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947247" "0" "50" "1" "39877301" "39877301" "subst" "0" "02325" "KIAA0754_000117" "g.39877301C>G" "" "" "" "MACF1(NM_012090.5):c.9631-10745C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947248" "0" "30" "1" "39877495" "39877495" "subst" "0.000832704" "02325" "KIAA0754_000118" "g.39877495C>T" "" "" "" "MACF1(NM_012090.5):c.9631-10551C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947249" "0" "30" "1" "39889792" "39889792" "subst" "0.00039805" "02325" "KIAA0754_000119" "g.39889792T>G" "" "" "" "MACF1(NM_012090.5):c.10056T>G (p.D3352E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947250" "0" "70" "1" "39895624" "39895624" "subst" "0" "02327" "KIAA0754_000120" "g.39895624C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947251" "0" "30" "1" "39920726" "39920726" "subst" "0.000296683" "02325" "KIAA0754_000121" "g.39920726C>T" "" "" "" "MACF1(NM_012090.5):c.14855C>T (p.P4952L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952298" "3" "50" "1" "39816571" "39816571" "subst" "9.75158E-5" "00006" "MACF1_000006" "g.39816571C>T" "" "{PMID:Chatron 2020:32282878}" "" "NM_012090.5:c.4894C>T" "" "Germline" "" "" "0" "" "" "g.39350899C>T" "" "VUS" "" "0000952299" "3" "50" "1" "39816626" "39816626" "subst" "0.00019507" "00006" "MACF1_000007" "g.39816626C>T" "" "{PMID:Chatron 2020:32282878}" "" "NM_012090.5:c.4949C>T" "" "Germline" "" "" "0" "" "" "g.39350954C>T" "" "VUS" "" "0000952303" "3" "50" "1" "39816571" "39816571" "subst" "9.75158E-5" "00006" "MACF1_000006" "g.39816571C>T" "" "{PMID:Chatron 2020:32282878}" "" "NM_012090.5:c.4894C>T" "" "Germline" "" "" "0" "" "" "g.39350899C>T" "" "VUS" "" "0000952304" "3" "50" "1" "39816626" "39816626" "subst" "0.00019507" "00006" "MACF1_000007" "g.39816626C>T" "" "{PMID:Chatron 2020:32282878}" "" "NM_012090.5:c.4949C>T" "" "Germline" "" "" "0" "" "" "g.39350954C>T" "" "VUS" "" "0000973934" "0" "50" "1" "39776667" "39776667" "dup" "0" "01804" "KIAA0754_000124" "g.39776667dup" "" "" "" "MACF1(NM_012090.5):c.3280dup (p.(Gln1094ProfsTer23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973935" "0" "50" "1" "39788673" "39788673" "subst" "0" "01804" "KIAA0754_000125" "g.39788673A>T" "" "" "" "MACF1(NM_012090.5):c.4244A>T (p.(Glu1415Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973936" "0" "30" "1" "39796863" "39796873" "del" "0" "02325" "KIAA0754_000126" "g.39796863_39796873del" "" "" "" "MACF1(NM_012090.5):c.4629+3838_4629+3848delTTTTTTTTTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973938" "0" "30" "1" "39827025" "39827025" "subst" "8.74701E-5" "01804" "KIAA0754_000127" "g.39827025A>C" "" "" "" "MACF1(NM_012090.5):c.6268-7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973939" "0" "50" "1" "39833899" "39833899" "subst" "0" "01804" "KIAA0754_000128" "g.39833899G>A" "" "" "" "MACF1(NM_012090.5):c.6665G>A (p.(Gly2222Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973941" "0" "30" "1" "39854062" "39854062" "subst" "8.12955E-5" "01804" "KIAA0754_000129" "g.39854062G>A" "" "" "" "MACF1(NM_012090.5):c.9362G>A (p.(Cys3121Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973942" "0" "30" "1" "39854283" "39854283" "subst" "2.97543E-5" "01804" "KIAA0754_000130" "g.39854283G>C" "" "" "" "MACF1(NM_012090.5):c.9583G>C (p.(Val3195Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973943" "0" "50" "1" "39854290" "39854290" "subst" "0" "01804" "KIAA0754_000131" "g.39854290C>A" "" "" "" "MACF1(NM_012090.5):c.9590C>A (p.(Thr3197Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973944" "0" "30" "1" "39854301" "39854301" "subst" "9.12517E-6" "01804" "KIAA0754_000132" "g.39854301A>G" "" "" "" "MACF1(NM_012090.5):c.9601A>G (p.(Ile3201Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973945" "0" "50" "1" "39906959" "39906959" "subst" "4.07544E-6" "01804" "KIAA0754_000133" "g.39906959G>T" "" "" "" "MACF1(NM_012090.5):c.12457G>T (p.(Ala4153Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973946" "0" "50" "1" "39913168" "39913168" "subst" "1.21838E-5" "01804" "KIAA0754_000134" "g.39913168A>G" "" "" "" "MACF1(NM_012090.5):c.13493A>G (p.(Asn4498Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973947" "0" "50" "1" "39913737" "39913737" "subst" "0" "01804" "KIAA0754_000135" "g.39913737G>T" "" "" "" "MACF1(NM_012090.5):c.13824G>T (p.(Trp4608Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973948" "0" "30" "1" "39920772" "39920772" "subst" "4.08724E-6" "01804" "KIAA0754_000136" "g.39920772A>G" "" "" "" "MACF1(NM_012090.5):c.14898+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985370" "0" "70" "1" "39918461" "39918461" "subst" "0" "04653" "MACF1_000008" "g.39918461C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.39452789C>T" "" "likely pathogenic (dominant)" "ACMG" "0000991229" "0" "50" "1" "39723639" "39723639" "subst" "0" "01804" "KIAA0754_000138" "g.39723639T>G" "" "" "" "MACF1(NM_012090.5):c.482T>G (p.(Ile161Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991231" "0" "50" "1" "39765967" "39765967" "subst" "8.12526E-6" "01804" "KIAA0754_000139" "g.39765967G>A" "" "" "" "MACF1(NM_012090.5):c.2582G>A (p.(Arg861His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991232" "0" "30" "1" "39765994" "39765994" "subst" "1.62764E-5" "01804" "KIAA0754_000140" "g.39765994C>T" "" "" "" "MACF1(NM_012090.5):c.2609C>T (p.(Thr870Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991233" "0" "30" "1" "39776032" "39776032" "subst" "4.06365E-5" "01804" "KIAA0754_000141" "g.39776032T>C" "" "" "" "MACF1(NM_012090.5):c.3047T>C (p.(Leu1016Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991234" "0" "50" "1" "39782084" "39782084" "subst" "0" "01804" "KIAA0754_000142" "g.39782084A>G" "" "" "" "MACF1(NM_012090.5):c.3486A>G (p.(Ile1162Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991235" "0" "30" "1" "39783079" "39783079" "subst" "1.23077E-5" "01804" "KIAA0754_000143" "g.39783079G>A" "" "" "" "MACF1(NM_012090.5):c.3797G>A (p.(Arg1266His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991236" "0" "50" "1" "39790322" "39790322" "subst" "8.16033E-6" "01804" "KIAA0754_000144" "g.39790322T>G" "" "" "" "MACF1(NM_012090.5):c.4409T>G (p.(Leu1470Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991237" "0" "30" "1" "39815208" "39815208" "subst" "0" "01804" "KIAA0754_000145" "g.39815208T>C" "" "" "" "MACF1(NM_012090.5):c.4688T>C (p.(Val1563Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991238" "0" "30" "1" "39816482" "39816482" "subst" "3.25108E-5" "01804" "KIAA0754_000146" "g.39816482G>A" "" "" "" "MACF1(NM_012090.5):c.4805G>A (p.(Arg1602His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991239" "0" "50" "1" "39816518" "39816518" "subst" "1.21878E-5" "01804" "KIAA0754_000147" "g.39816518A>C" "" "" "" "MACF1(NM_012090.5):c.4841A>C (p.(Glu1614Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991240" "0" "50" "1" "39818851" "39818851" "subst" "0" "01804" "KIAA0754_000148" "g.39818851T>G" "" "" "" "MACF1(NM_012090.5):c.5186T>G (p.(Met1729Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991241" "0" "30" "1" "39824482" "39824482" "subst" "0" "01804" "KIAA0754_000149" "g.39824482G>C" "" "" "" "MACF1(NM_012090.5):c.5871G>C (p.(Lys1957Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991242" "0" "50" "1" "39845019" "39845019" "subst" "0" "01804" "KIAA0754_000150" "g.39845019A>G" "" "" "" "MACF1(NM_012090.5):c.7235A>G (p.(Gln2412Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991243" "0" "50" "1" "39845082" "39845082" "subst" "8.14259E-6" "01804" "KIAA0754_000151" "g.39845082C>T" "" "" "" "MACF1(NM_012090.5):c.7298C>T (p.(Thr2433Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991244" "0" "30" "1" "39847783" "39847783" "subst" "4.06412E-6" "01804" "KIAA0754_000152" "g.39847783A>G" "" "" "" "MACF1(NM_012090.5):c.7621A>G (p.(Ile2541Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991245" "0" "50" "1" "39851144" "39851144" "subst" "8.12579E-6" "01804" "KIAA0754_000153" "g.39851144T>A" "" "" "" "MACF1(NM_012090.5):c.7701T>A (p.(His2567Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991246" "0" "50" "1" "39851254" "39851254" "subst" "0" "01804" "KIAA0754_000154" "g.39851254A>G" "" "" "" "MACF1(NM_012090.5):c.7811A>G (p.(Glu2604Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991247" "0" "50" "1" "39852864" "39852864" "subst" "4.1278E-6" "01804" "KIAA0754_000155" "g.39852864C>T" "" "" "" "MACF1(NM_012090.5):c.8164C>T (p.(Arg2722Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991248" "0" "30" "1" "39853356" "39853356" "subst" "9.35591E-5" "01804" "KIAA0754_000156" "g.39853356A>G" "" "" "" "MACF1(NM_012090.5):c.8656A>G (p.(Met2886Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991249" "0" "30" "1" "39853912" "39853912" "subst" "0" "01804" "KIAA0754_000157" "g.39853912C>T" "" "" "" "MACF1(NM_012090.5):c.9212C>T (p.(Ser3071Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991250" "0" "30" "1" "39853992" "39853992" "subst" "0.000125895" "01804" "KIAA0754_000158" "g.39853992G>A" "" "" "" "MACF1(NM_012090.5):c.9292G>A (p.(Glu3098Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991251" "0" "30" "1" "39854164" "39854164" "subst" "4.06141E-6" "01804" "KIAA0754_000159" "g.39854164A>C" "" "" "" "MACF1(NM_012090.5):c.9464A>C (p.(Lys3155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991252" "0" "30" "1" "39854242" "39854242" "subst" "0" "01804" "KIAA0754_000160" "g.39854242C>T" "" "" "" "MACF1(NM_012090.5):c.9542C>T (p.(Ala3181Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991253" "0" "30" "1" "39888149" "39888149" "subst" "1.21854E-5" "01804" "KIAA0754_000161" "g.39888149A>G" "" "" "" "MACF1(NM_012090.5):c.9734A>G (p.(Gln3245Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991254" "0" "30" "1" "39889725" "39889725" "subst" "8.13173E-6" "01804" "KIAA0754_000162" "g.39889725G>A" "" "" "" "MACF1(NM_012090.5):c.9989G>A (p.(Arg3330Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991255" "0" "50" "1" "39893278" "39893278" "subst" "1.22025E-5" "01804" "KIAA0754_000163" "g.39893278C>T" "" "" "" "MACF1(NM_012090.5):c.10282C>T (p.(Arg3428Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991256" "0" "50" "1" "39895537" "39895537" "subst" "0" "01804" "KIAA0754_000164" "g.39895537A>G" "" "" "" "MACF1(NM_012090.5):c.10741A>G (p.(Ile3581Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991257" "0" "30" "1" "39896387" "39896387" "subst" "4.88468E-5" "01804" "KIAA0754_000165" "g.39896387A>C" "" "" "" "MACF1(NM_012090.5):c.10958A>C (p.(Glu3653Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991258" "0" "30" "1" "39896530" "39896530" "subst" "4.87492E-5" "01804" "KIAA0754_000166" "g.39896530A>G" "" "" "" "MACF1(NM_012090.5):c.11101A>G (p.(Ile3701Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991259" "0" "30" "1" "39898777" "39898777" "subst" "8.16553E-6" "01804" "KIAA0754_000167" "g.39898777C>T" "" "" "" "MACF1(NM_012090.5):c.11329C>T (p.(Arg3777Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991261" "0" "30" "1" "39903564" "39903564" "subst" "8.12546E-6" "01804" "KIAA0754_000168" "g.39903564A>G" "" "" "" "MACF1(NM_012090.5):c.11927A>G (p.(Asn3976Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991262" "0" "30" "1" "39904999" "39904999" "subst" "3.24958E-5" "01804" "KIAA0754_000169" "g.39904999C>T" "" "" "" "MACF1(NM_012090.5):c.12097C>T (p.(Arg4033Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991263" "0" "30" "1" "39913425" "39913425" "subst" "0" "01804" "KIAA0754_000170" "g.39913425A>G" "" "" "" "MACF1(NM_012090.5):c.13646A>G (p.(Asn4549Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991264" "0" "50" "1" "39913743" "39913743" "subst" "0" "01804" "KIAA0754_000171" "g.39913743A>C" "" "" "" "MACF1(NM_012090.5):c.13830A>C (p.(Glu4610Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991265" "0" "30" "1" "39918358" "39918358" "subst" "2.4369E-5" "01804" "KIAA0754_000172" "g.39918358G>A" "" "" "" "MACF1(NM_012090.5):c.14439G>A (p.(Ala4813Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991266" "0" "50" "1" "39927611" "39927611" "subst" "0" "01804" "KIAA0754_000173" "g.39927611G>A" "" "" "" "MACF1(NM_012090.5):c.15403G>A (p.(Gly5135Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991267" "0" "50" "1" "39945547" "39945547" "subst" "8.12288E-6" "01804" "KIAA0754_000174" "g.39945547C>T" "" "" "" "MACF1(NM_012090.5):c.15772C>T (p.(Arg5258Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991268" "0" "30" "1" "39950331" "39950331" "subst" "4.06108E-6" "01804" "KIAA0754_000175" "g.39950331G>A" "" "" "" "MACF1(NM_012090.5):c.15965G>A (p.(Arg5322Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013320" "0" "30" "1" "39914356" "39914356" "subst" "0.000105646" "02325" "KIAA0754_000176" "g.39914356G>A" "" "" "" "MACF1(NM_012090.5):c.14002G>A (p.E4668K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001020131" "0" "10" "1" "39853519" "39853519" "subst" "0" "00006" "MACF1_000009" "g.39853519C>G" "" "{PMID:Bayam 2024:39609633}" "" "" "" "Germline" "" "" "0" "" "" "g.39387847C>G" "" "benign" "" "0001024176" "0" "30" "1" "39909109" "39909109" "dup" "0" "02325" "KIAA0754_000177" "g.39909109dup" "" "" "" "MACF1(NM_012090.5):c.13126-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024177" "0" "50" "1" "39934317" "39934317" "subst" "0" "02325" "KIAA0754_000178" "g.39934317C>T" "" "" "" "MACF1(NM_012090.5):c.15607C>T (p.R5203C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032016" "0" "30" "1" "39709286" "39709286" "subst" "0" "01804" "KIAA0754_000179" "g.39709286A>T" "" "" "" "MACF1(NM_012090.5):c.283-6400A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032018" "0" "50" "1" "39781336" "39781336" "subst" "0" "01804" "KIAA0754_000180" "g.39781336A>G" "" "" "" "MACF1(NM_012090.5):c.3437A>G (p.(Tyr1146Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032019" "0" "50" "1" "39784163" "39784163" "subst" "0" "01804" "KIAA0754_000181" "g.39784163A>G" "" "" "" "MACF1(NM_012090.5):c.3836A>G (p.(Asp1279Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032020" "0" "50" "1" "39790020" "39790020" "subst" "8.17829E-6" "01804" "KIAA0754_000182" "g.39790020G>C" "" "" "" "MACF1(NM_012090.5):c.4404+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032021" "0" "30" "1" "39816451" "39816451" "subst" "4.07256E-6" "01804" "KIAA0754_000183" "g.39816451G>A" "" "" "" "MACF1(NM_012090.5):c.4780-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032023" "0" "50" "1" "39845946" "39845946" "subst" "4.06805E-6" "01804" "KIAA0754_000184" "g.39845946C>T" "" "" "" "MACF1(NM_012090.5):c.7363C>T (p.(Pro2455Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032024" "0" "50" "1" "39851471" "39851471" "subst" "4.06157E-6" "01804" "KIAA0754_000185" "g.39851471C>G" "" "" "" "MACF1(NM_012090.5):c.8028C>G (p.(His2676Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032025" "0" "30" "1" "39853210" "39853210" "subst" "2.03206E-5" "01804" "KIAA0754_000186" "g.39853210A>G" "" "" "" "MACF1(NM_012090.5):c.8510A>G (p.(Lys2837Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032026" "0" "50" "1" "39853710" "39853710" "subst" "0" "01804" "KIAA0754_000187" "g.39853710G>A" "" "" "" "MACF1(NM_012090.5):c.9010G>A (p.(Val3004Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032027" "0" "50" "1" "39877051" "39877051" "subst" "4.06105E-6" "02325" "KIAA0754_000188" "g.39877051G>C" "" "" "" "MACF1(NM_012090.5):c.9631-10995G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032028" "0" "30" "1" "39896365" "39896365" "subst" "0" "01804" "KIAA0754_000189" "g.39896365C>G" "" "" "" "MACF1(NM_012090.5):c.10945-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032030" "0" "50" "1" "39903533" "39903533" "subst" "0" "02325" "KIAA0754_000190" "g.39903533G>C" "" "" "" "MACF1(NM_012090.5):c.11896G>C (p.V3966L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032031" "0" "30" "1" "39908165" "39908165" "subst" "5.69416E-5" "01804" "KIAA0754_000191" "g.39908165G>A" "" "" "" "MACF1(NM_012090.5):c.12853G>A (p.(Glu4285Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032032" "0" "50" "1" "39908205" "39908205" "subst" "4.07319E-6" "01804" "KIAA0754_000192" "g.39908205C>T" "" "" "" "MACF1(NM_012090.5):c.12893C>T (p.(Pro4298Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032033" "0" "30" "1" "39908511" "39908511" "subst" "0.000105819" "02325" "KIAA0754_000193" "g.39908511G>T" "" "" "" "MACF1(NM_012090.5):c.13053G>T (p.M4351I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032034" "0" "30" "1" "39950267" "39950267" "subst" "2.11816E-5" "01804" "KIAA0754_000194" "g.39950267T>G" "" "" "" "MACF1(NM_012090.5):c.15907-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032035" "0" "50" "1" "39951244" "39951255" "del" "0" "01804" "KIAA0754_000195" "g.39951244_39951255del" "" "" "" "MACF1(NM_012090.5):c.16071_16082del (p.(Gly5363_Ala5366del)), MACF1(NM_012090.5):c.16071_16082delGGCTGGGAGTCG (p.G5363_A5366del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032036" "0" "50" "1" "39951244" "39951255" "del" "0" "02325" "KIAA0754_000195" "g.39951244_39951255del" "" "" "" "MACF1(NM_012090.5):c.16071_16082del (p.(Gly5363_Ala5366del)), MACF1(NM_012090.5):c.16071_16082delGGCTGGGAGTCG (p.G5363_A5366del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045680" "0" "50" "1" "39877327" "39877327" "subst" "1.21847E-5" "02325" "KIAA0754_000196" "g.39877327G>T" "" "" "" "MACF1(NM_012090.5):c.9631-10719G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045681" "0" "50" "1" "39878474" "39878474" "subst" "1.23527E-5" "02325" "KIAA0754_000197" "g.39878474C>T" "" "" "" "MACF1(NM_012090.5):c.9631-9572C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045682" "0" "50" "1" "39945533" "39945533" "subst" "0" "02325" "KIAA0754_000198" "g.39945533G>A" "" "" "" "MACF1(NM_012090.5):c.15758G>A (p.G5253E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049324" "0" "70" "1" "39929312" "39929312" "subst" "0" "00006" "MACF1_000005" "g.39929312G>T" "" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "" "NM_001394062.1:c.21404G>T" "" "De novo" "" "" "0" "" "" "g.39463640G>T" "" "likely pathogenic (dominant)" "" "0001049325" "0" "70" "1" "39929312" "39929312" "subst" "0" "00006" "MACF1_000005" "g.39929312G>T" "" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "" "NM_001394062.1:c.21404G>T" "" "De novo" "" "" "0" "" "" "g.39463640G>T" "" "likely pathogenic (dominant)" "" "0001049326" "0" "70" "1" "39934392" "39934392" "subst" "0" "00006" "MACF1_000012" "g.39934392G>T" "" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "" "NM_001394062.1:c.21556G>T" "" "De novo" "" "" "0" "" "" "g.39468720G>T" "" "likely pathogenic (dominant)" "" "0001049327" "0" "70" "1" "39934392" "39934392" "subst" "0" "00006" "MACF1_000012" "g.39934392G>T" "" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "" "NM_001394062.1:c.21556G>T" "" "De novo" "" "" "0" "" "" "g.39468720G>T" "" "likely pathogenic (dominant)" "" "0001049328" "0" "70" "1" "39934399" "39934399" "subst" "0" "00006" "MACF1_000013" "g.39934399G>T" "" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "" "NM_001394062.1:c.21563G>T" "" "De novo" "" "" "0" "" "" "g.39468727G>T" "" "likely pathogenic (dominant)" "" "0001049329" "0" "70" "1" "39934399" "39934399" "subst" "0" "00006" "MACF1_000013" "g.39934399G>T" "" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "" "NM_001394062.1:c.21563G>T" "" "De novo" "" "" "0" "" "" "g.39468727G>T" "" "likely pathogenic (dominant)" "" "0001049330" "0" "70" "1" "39934398" "39934398" "subst" "0" "00006" "MACF1_000014" "g.39934398T>G" "" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "" "NM_001394062.1:c.21562T>G" "" "De novo" "" "" "0" "" "" "g.39468726T>G" "" "likely pathogenic (dominant)" "" "0001049331" "0" "70" "1" "39894404" "39933998" "del" "0" "00006" "MACF1_000011" "g.39894404_39933998del" "" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "" "NM_012090.5 del ex62-93" "" "De novo" "" "" "0" "" "" "g.39428732_39468326del" "" "likely pathogenic (dominant)" "" "0001049332" "0" "70" "1" "39916758" "39916758" "subst" "0" "00006" "MACF1_000015" "g.39916758G>C" "" "{PMID:Dobyns 2018:30471716}, {DOI:Dobyns 2018:10.1016/j.ajhg.2018.10.019}" "" "NM_001394062.1:c.19990G>C" "" "De novo" "" "" "0" "" "" "g.39451086G>C" "" "likely pathogenic (dominant)" "" "0001049333" "0" "70" "1" "39788292" "39788295" "delins" "0" "00006" "MACF1_000016" "g.39788292_39788295delinsTA" "" "{PMID:Kenny 2014:24126926}" "" "M_012090.5:c.4057_4060delinsTA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.39322620_39322623delinsTA" "" "VUS" "" "0001049334" "0" "50" "1" "39827053" "39827053" "subst" "1.65579E-5" "00006" "MACF1_000017" "g.39827053C>T" "" "{PMID:Wang 2015:26666178}" "" "M_012090.5:c.6289C>T" "" "De novo" "" "" "0" "" "" "g.39361381C>T" "" "VUS" "" "0001049335" "0" "70" "1" "39904999" "39904999" "subst" "3.24958E-5" "00006" "KIAA0754_000169" "g.39904999C>T" "" "{PMID:Xu 2012:23042115}" "" "NM_012090.5:c.12097C>T" "" "De novo" "" "" "0" "" "" "g.39439327C>T" "" "VUS" "" "0001050058" "0" "50" "1" "39696876" "39696876" "subst" "0" "01804" "KIAA0754_000202" "g.39696876G>C" "" "" "" "MACF1(NM_012090.5):c.243G>C (p.(Lys81Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050059" "0" "50" "1" "39752992" "39752992" "subst" "3.24979E-5" "01804" "KIAA0754_000203" "g.39752992C>T" "" "" "" "MACF1(NM_012090.5):c.1558C>T (p.(Arg520Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050060" "0" "30" "1" "39824873" "39824873" "subst" "4.46682E-5" "01804" "KIAA0754_000204" "g.39824873C>T" "" "" "" "MACF1(NM_012090.5):c.5995C>T (p.(Arg1999Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050061" "0" "50" "1" "39846039" "39846039" "subst" "0" "01804" "KIAA0754_000205" "g.39846039G>T" "" "" "" "MACF1(NM_012090.5):c.7456G>T (p.(Glu2486*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050062" "0" "30" "1" "39851563" "39851563" "subst" "4.0838E-5" "01804" "KIAA0754_000206" "g.39851563C>T" "" "" "" "MACF1(NM_012090.5):c.8120C>T (p.(Thr2707Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050063" "0" "30" "1" "39895547" "39895547" "subst" "8.12328E-6" "01804" "KIAA0754_000207" "g.39895547G>A" "" "" "" "MACF1(NM_012090.5):c.10751G>A (p.(Arg3584His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050064" "0" "50" "1" "39913560" "39913560" "subst" "4.0654E-6" "01804" "KIAA0754_000208" "g.39913560G>A" "" "" "" "MACF1(NM_012090.5):c.13781G>A (p.(Arg4594Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050066" "0" "50" "1" "39924155" "39924155" "subst" "0" "01804" "KIAA0754_000209" "g.39924155C>A" "" "" "" "MACF1(NM_012090.5):c.15012C>A (p.(Ser5004Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050067" "0" "50" "1" "39945572" "39945572" "subst" "0" "01804" "KIAA0754_000210" "g.39945572C>T" "" "" "" "MACF1(NM_012090.5):c.15797C>T (p.(Pro5266Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 MACF1 ## Count = 111 "{{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}}" "0000947243" "00025926" "50" "950" "0" "950" "0" "c.950G>T" "r.(?)" "p.(Arg317Leu)" "" "0000947244" "00025926" "30" "11080" "0" "11080" "0" "c.11080C>T" "r.(?)" "p.(Leu3694Phe)" "" "0000947245" "00025926" "30" "11135" "0" "11135" "0" "c.11135C>T" "r.(?)" "p.(Thr3712Ile)" "" "0000947246" "00025926" "50" "12025" "0" "12025" "0" "c.12025T>C" "r.(?)" "p.(Trp4009Arg)" "" "0000947247" "00025926" "50" "15817" "-10745" "15817" "-10745" "c.15817-10745C>G" "r.(=)" "p.(=)" "" "0000947248" "00025926" "30" "15817" "-10551" "15817" "-10551" "c.15817-10551C>T" "r.(=)" "p.(=)" "" "0000947249" "00025926" "30" "16242" "0" "16242" "0" "c.16242T>G" "r.(?)" "p.(Asp5414Glu)" "" "0000947250" "00025926" "70" "17014" "0" "17014" "0" "c.17014C>T" "r.(?)" "p.(Gln5672*)" "" "0000947251" "00025926" "30" "21032" "0" "21032" "0" "c.21032C>T" "r.(?)" "p.(Pro7011Leu)" "" "0000952298" "00025926" "50" "11080" "0" "11080" "0" "c.11080C>T" "r.(?)" "p.(Leu3694Phe)" "" "0000952299" "00025926" "50" "11135" "0" "11135" "0" "c.11135C>T" "r.(?)" "p.(Thr3712Ile)" "" "0000952303" "00025926" "50" "11080" "0" "11080" "0" "c.11080C>T" "r.(?)" "p.(Leu3694Phe)" "" "0000952304" "00025926" "50" "11135" "0" "11135" "0" "c.11135C>T" "r.(?)" "p.(Thr3712Ile)" "" "0000973934" "00025926" "50" "3265" "0" "3265" "0" "c.3265dup" "r.(?)" "p.(Gln1089Profs*23)" "" "0000973935" "00025926" "50" "4229" "0" "4229" "0" "c.4229A>T" "r.(?)" "p.(Glu1410Val)" "" "0000973936" "00025926" "30" "4615" "-12" "4615" "-2" "c.4615-12_4615-2del" "r.spl?" "p.?" "" "0000973938" "00025926" "30" "12454" "-7" "12454" "-7" "c.12454-7A>C" "r.(=)" "p.(=)" "" "0000973939" "00025926" "50" "12851" "0" "12851" "0" "c.12851G>A" "r.(?)" "p.(Gly4284Asp)" "" "0000973941" "00025926" "30" "15548" "0" "15548" "0" "c.15548G>A" "r.(?)" "p.(Cys5183Tyr)" "" "0000973942" "00025926" "30" "15769" "0" "15769" "0" "c.15769G>C" "r.(?)" "p.(Val5257Leu)" "" "0000973943" "00025926" "50" "15776" "0" "15776" "0" "c.15776C>A" "r.(?)" "p.(Thr5259Asn)" "" "0000973944" "00025926" "30" "15787" "0" "15787" "0" "c.15787A>G" "r.(?)" "p.(Ile5263Val)" "" "0000973945" "00025926" "50" "18634" "0" "18634" "0" "c.18634G>T" "r.(?)" "p.(Ala6212Ser)" "" "0000973946" "00025926" "50" "19670" "0" "19670" "0" "c.19670A>G" "r.(?)" "p.(Asn6557Ser)" "" "0000973947" "00025926" "50" "20001" "0" "20001" "0" "c.20001G>T" "r.(?)" "p.(Trp6667Cys)" "" "0000973948" "00025926" "30" "21075" "3" "21075" "3" "c.21075+3A>G" "r.spl?" "p.?" "" "0000985370" "00025926" "70" "20719" "0" "20719" "0" "c.20719C>T" "r.(?)" "p.(Gln6907Ter)" "" "0000991229" "00025926" "50" "467" "0" "467" "0" "c.467T>G" "r.(?)" "p.(Ile156Ser)" "" "0000991231" "00025926" "50" "2567" "0" "2567" "0" "c.2567G>A" "r.(?)" "p.(Arg856His)" "" "0000991232" "00025926" "30" "2594" "0" "2594" "0" "c.2594C>T" "r.(?)" "p.(Thr865Ile)" "" "0000991233" "00025926" "30" "3032" "0" "3032" "0" "c.3032T>C" "r.(?)" "p.(Leu1011Ser)" "" "0000991234" "00025926" "50" "3471" "0" "3471" "0" "c.3471A>G" "r.(?)" "p.(Ile1157Met)" "" "0000991235" "00025926" "30" "3782" "0" "3782" "0" "c.3782G>A" "r.(?)" "p.(Arg1261His)" "" "0000991236" "00025926" "50" "4394" "0" "4394" "0" "c.4394T>G" "r.(?)" "p.(Leu1465Arg)" "" "0000991237" "00025926" "30" "10874" "0" "10874" "0" "c.10874T>C" "r.(?)" "p.(Val3625Ala)" "" "0000991238" "00025926" "30" "10991" "0" "10991" "0" "c.10991G>A" "r.(?)" "p.(Arg3664His)" "" "0000991239" "00025926" "50" "11027" "0" "11027" "0" "c.11027A>C" "r.(?)" "p.(Glu3676Ala)" "" "0000991240" "00025926" "50" "11372" "0" "11372" "0" "c.11372T>G" "r.(?)" "p.(Met3791Arg)" "" "0000991241" "00025926" "30" "12057" "0" "12057" "0" "c.12057G>C" "r.(?)" "p.(Lys4019Asn)" "" "0000991242" "00025926" "50" "13421" "0" "13421" "0" "c.13421A>G" "r.(?)" "p.(Gln4474Arg)" "" "0000991243" "00025926" "50" "13484" "0" "13484" "0" "c.13484C>T" "r.(?)" "p.(Thr4495Ile)" "" "0000991244" "00025926" "30" "13807" "0" "13807" "0" "c.13807A>G" "r.(?)" "p.(Ile4603Val)" "" "0000991245" "00025926" "50" "13887" "0" "13887" "0" "c.13887T>A" "r.(?)" "p.(His4629Gln)" "" "0000991246" "00025926" "50" "13997" "0" "13997" "0" "c.13997A>G" "r.(?)" "p.(Glu4666Gly)" "" "0000991247" "00025926" "50" "14350" "0" "14350" "0" "c.14350C>T" "r.(?)" "p.(Arg4784Cys)" "" "0000991248" "00025926" "30" "14842" "0" "14842" "0" "c.14842A>G" "r.(?)" "p.(Met4948Val)" "" "0000991249" "00025926" "30" "15398" "0" "15398" "0" "c.15398C>T" "r.(?)" "p.(Ser5133Phe)" "" "0000991250" "00025926" "30" "15478" "0" "15478" "0" "c.15478G>A" "r.(?)" "p.(Glu5160Lys)" "" "0000991251" "00025926" "30" "15650" "0" "15650" "0" "c.15650A>C" "r.(?)" "p.(Lys5217Thr)" "" "0000991252" "00025926" "30" "15728" "0" "15728" "0" "c.15728C>T" "r.(?)" "p.(Ala5243Val)" "" "0000991253" "00025926" "30" "15920" "0" "15920" "0" "c.15920A>G" "r.(?)" "p.(Gln5307Arg)" "" "0000991254" "00025926" "30" "16175" "0" "16175" "0" "c.16175G>A" "r.(?)" "p.(Arg5392Gln)" "" "0000991255" "00025926" "50" "16468" "0" "16468" "0" "c.16468C>T" "r.(?)" "p.(Arg5490Trp)" "" "0000991256" "00025926" "50" "16927" "0" "16927" "0" "c.16927A>G" "r.(?)" "p.(Ile5643Val)" "" "0000991257" "00025926" "30" "17144" "0" "17144" "0" "c.17144A>C" "r.(?)" "p.(Glu5715Ala)" "" "0000991258" "00025926" "30" "17287" "0" "17287" "0" "c.17287A>G" "r.(?)" "p.(Ile5763Val)" "" "0000991259" "00025926" "30" "17515" "0" "17515" "0" "c.17515C>T" "r.(?)" "p.(Arg5839Cys)" "" "0000991261" "00025926" "30" "18104" "0" "18104" "0" "c.18104A>G" "r.(?)" "p.(Asn6035Ser)" "" "0000991262" "00025926" "30" "18274" "0" "18274" "0" "c.18274C>T" "r.(?)" "p.(Arg6092Trp)" "" "0000991263" "00025926" "30" "19823" "0" "19823" "0" "c.19823A>G" "r.(?)" "p.(Asn6608Ser)" "" "0000991264" "00025926" "50" "20007" "0" "20007" "0" "c.20007A>C" "r.(?)" "p.(Glu6669Asp)" "" "0000991265" "00025926" "30" "20616" "0" "20616" "0" "c.20616G>A" "r.(?)" "p.(Ala6872=)" "" "0000991266" "00025926" "50" "21580" "0" "21580" "0" "c.21580G>A" "r.(?)" "p.(Gly7194Arg)" "" "0000991267" "00025926" "50" "22036" "0" "22036" "0" "c.22036C>T" "r.(?)" "p.(Arg7346Cys)" "" "0000991268" "00025926" "30" "22340" "0" "22340" "0" "c.22340G>A" "r.(?)" "p.(Arg7447Gln)" "" "0001013320" "00025926" "30" "20179" "0" "20179" "0" "c.20179G>A" "r.(?)" "p.(Glu6727Lys)" "" "0001020131" "00025926" "10" "15005" "0" "15005" "0" "c.15005C>G" "r.(?)" "p.(Thr5002Arg)" "" "0001024176" "00025926" "30" "19303" "-9" "19303" "-9" "c.19303-9dup" "r.(=)" "p.(=)" "" "0001024177" "00025926" "50" "21802" "0" "21802" "0" "c.21802C>T" "r.(?)" "p.(Arg7268Cys)" "" "0001032016" "00025926" "30" "172" "-6400" "172" "-6400" "c.172-6400A>T" "r.(=)" "p.(=)" "" "0001032018" "00025926" "50" "3422" "0" "3422" "0" "c.3422A>G" "r.(?)" "p.(Tyr1141Cys)" "" "0001032019" "00025926" "50" "3821" "0" "3821" "0" "c.3821A>G" "r.(?)" "p.(Asp1274Gly)" "" "0001032020" "00025926" "50" "4389" "3" "4389" "3" "c.4389+3G>C" "r.spl?" "p.?" "" "0001032021" "00025926" "30" "10966" "-6" "10966" "-6" "c.10966-6G>A" "r.(=)" "p.(=)" "" "0001032023" "00025926" "50" "13549" "0" "13549" "0" "c.13549C>T" "r.(?)" "p.(Pro4517Ser)" "" "0001032024" "00025926" "50" "14214" "0" "14214" "0" "c.14214C>G" "r.(?)" "p.(His4738Gln)" "" "0001032025" "00025926" "30" "14696" "0" "14696" "0" "c.14696A>G" "r.(?)" "p.(Lys4899Arg)" "" "0001032026" "00025926" "50" "15196" "0" "15196" "0" "c.15196G>A" "r.(?)" "p.(Val5066Ile)" "" "0001032027" "00025926" "50" "15817" "-10995" "15817" "-10995" "c.15817-10995G>C" "r.(=)" "p.(=)" "" "0001032028" "00025926" "30" "17131" "-9" "17131" "-9" "c.17131-9C>G" "r.(=)" "p.(=)" "" "0001032030" "00025926" "50" "18073" "0" "18073" "0" "c.18073G>C" "r.(?)" "p.(Val6025Leu)" "" "0001032031" "00025926" "30" "19030" "0" "19030" "0" "c.19030G>A" "r.(?)" "p.(Glu6344Lys)" "" "0001032032" "00025926" "50" "19070" "0" "19070" "0" "c.19070C>T" "r.(?)" "p.(Pro6357Leu)" "" "0001032033" "00025926" "30" "19230" "0" "19230" "0" "c.19230G>T" "r.(?)" "p.(Met6410Ile)" "" "0001032034" "00025926" "30" "22282" "-6" "22282" "-6" "c.22282-6T>G" "r.(=)" "p.(=)" "" "0001032035" "00025926" "50" "22446" "0" "22457" "0" "c.22446_22457del" "r.(?)" "p.(Gly7488_Ala7491del)" "" "0001032036" "00025926" "50" "22446" "0" "22457" "0" "c.22446_22457del" "r.(?)" "p.(Gly7488_Ala7491del)" "" "0001045680" "00025926" "50" "15817" "-10719" "15817" "-10719" "c.15817-10719G>T" "r.(=)" "p.(=)" "" "0001045681" "00025926" "50" "15817" "-9572" "15817" "-9572" "c.15817-9572C>T" "r.(=)" "p.(=)" "" "0001045682" "00025926" "50" "22022" "0" "22022" "0" "c.22022G>A" "r.(?)" "p.(Gly7341Glu)" "" "0001049324" "00025926" "70" "21707" "0" "21707" "0" "c.21707G>T" "r.(?)" "p.(Cys7236Phe)" "" "0001049325" "00025926" "70" "21707" "0" "21707" "0" "c.21707G>T" "r.(?)" "p.(Cys7236Phe)" "" "0001049326" "00025926" "70" "21877" "0" "21877" "0" "c.21877G>T" "r.(?)" "p.(Asp7293Tyr)" "" "0001049327" "00025926" "70" "21877" "0" "21877" "0" "c.21877G>T" "r.(?)" "p.(Asp7293Tyr)" "" "0001049328" "00025926" "70" "21884" "0" "21884" "0" "c.21884G>T" "r.(?)" "p.(Cys7295Phe)" "" "0001049329" "00025926" "70" "21884" "0" "21884" "0" "c.21884G>T" "r.(?)" "p.(Cys7295Phe)" "" "0001049330" "00025926" "70" "21883" "0" "21883" "0" "c.21883T>G" "r.(?)" "p.(Cys7295Gly)" "" "0001049331" "00025926" "70" "16803" "445" "21772" "-289" "c.16803+445_21772-289del" "r.(16804_21771del)" "p.?" "" "0001049332" "00025926" "70" "20293" "0" "20293" "0" "c.20293G>C" "r.(?)" "p.(Gly6765Arg)" "" "0001049333" "00025926" "70" "4042" "0" "4045" "0" "c.4042_4045delinsTA" "r.(?)" "p.(Gln1348TyrfsTer55)" "" "0001049334" "00025926" "50" "12475" "0" "12475" "0" "c.12475C>T" "r.(?)" ":p.(Arg4159Trp)" "" "0001049335" "00025926" "70" "18274" "0" "18274" "0" "c.18274C>T" "r.(?)" "p.(Arg6092Trp)" "" "0001050058" "00025926" "50" "132" "0" "132" "0" "c.132G>C" "r.(?)" "p.(Lys44Asn)" "" "0001050059" "00025926" "50" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515Cys)" "" "0001050060" "00025926" "30" "12181" "0" "12181" "0" "c.12181C>T" "r.(?)" "p.(Arg4061Cys)" "" "0001050061" "00025926" "50" "13642" "0" "13642" "0" "c.13642G>T" "r.(?)" "p.(Glu4548*)" "" "0001050062" "00025926" "30" "14306" "0" "14306" "0" "c.14306C>T" "r.(?)" "p.(Thr4769Ile)" "" "0001050063" "00025926" "30" "16937" "0" "16937" "0" "c.16937G>A" "r.(?)" "p.(Arg5646His)" "" "0001050064" "00025926" "50" "19958" "0" "19958" "0" "c.19958G>A" "r.(?)" "p.(Arg6653Gln)" "" "0001050066" "00025926" "50" "21189" "0" "21189" "0" "c.21189C>A" "r.(?)" "p.(Ser7063Arg)" "" "0001050067" "00025926" "50" "22061" "0" "22061" "0" "c.22061C>T" "r.(?)" "p.(Pro7354Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000445368" "0000952298" "0000445368" "0000952299" "0000445369" "0000952303" "0000445369" "0000952304" "0000451470" "0000985370" "0000461044" "0001020131" "0000469138" "0001049324" "0000469139" "0001049325" "0000469140" "0001049326" "0000469141" "0001049327" "0000469142" "0001049328" "0000469143" "0001049329" "0000469144" "0001049330" "0000469145" "0001049331" "0000469146" "0001049332" "0000469147" "0001049333" "0000469148" "0001049334" "0000469149" "0001049335"