### 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" "2024-05-22 09:08:30" "00000" "2025-07-08 13:22:38" ## 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 = 4 "{{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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00443871" "06906" "00443872" "06906" "00449874" "00212" "00459421" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00212, 05362, 05611, 06047, 06906 ## Count = 4 "{{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" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{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" ## 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 = 90 "{{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" "" ## 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 = 90 "{{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)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000445368" "0000952298" "0000445368" "0000952299" "0000445369" "0000952303" "0000445369" "0000952304" "0000451470" "0000985370" "0000461044" "0001020131"