### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AIFM1) # 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}}" "AIFM1" "apoptosis-inducing factor, mitochondrion-associated, 1" "X" "q26.1" "unknown" "NG_013217.1" "UD_132119144891" "" "http://www.LOVD.nl/AIFM1" "" "1" "8768" "9131" "300169" "1" "1" "1" "1" "Establishment of this LSDBs was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/AIFM1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2015-05-03 16:48:30" "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}}" "00024036" "AIFM1" "transcript variant 1" "003" "NM_004208.3" "" "NP_004199.1" "" "" "" "-231" "2037" "1842" "129299861" "129263337" "00006" "2015-05-03 13:33:56" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04248" "-" "encephalomyopathy, mitochondrial" "" "" "" "" "" "00006" "2015-05-03 13:18:08" "" "" "04351" "COXPD6" "oxidative phosphorylation deficiency, combined, type 6 (COXPD-6)" "XLR" "300816" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "04352" "CMTX4" "Cowchock syndrome" "XLR" "310490" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06840" "SEMDHL" "Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy" "XLR" "300232" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "AIFM1" "00139" "AIFM1" "04351" "AIFM1" "04352" "AIFM1" "06840" ## Individuals ## Do not remove or alter this header ## ## Count = 38 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00037759" "" "" "" "80" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377184-Pat?" "00037760" "" "" "" "88" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377185-Pat?" "00037761" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377186-Pat?" "00037762" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377187-Pat?" "00037763" "" "" "" "1" "" "01283" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00274159" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "M" "" "Poland" "" "0" "" "" "" "Pat25" "00285663" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285664" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285665" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285666" "" "" "" "1" "" "00004" "{PMID:Cowchock 1985:3856385}, {PMID:Bird 1993:20301532}, {PMID:Rinaldi 2012:23217327}" "" "" "" "" "" "0" "" "" "" "" "00285667" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285668" "" "" "" "1" "" "00004" "{PMID:Wang 2006:16816020}, {PMID:Zong 2015:25986071}" "" "" "" "" "" "0" "" "" "" "" "00285669" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285670" "" "" "" "1" "" "00004" "{PMID:Zong 2015:25986071}" "" "" "" "" "" "0" "" "" "" "" "00285671" "" "" "" "1" "" "00004" "{PMID:Zong 2015:25986071}" "" "" "" "" "" "0" "" "" "" "" "00285672" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285673" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285674" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285675" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285676" "" "" "" "1" "" "00004" "{PMID:Zong 2015:25986071}" "" "" "" "" "" "0" "" "" "" "" "00285677" "" "" "" "1" "" "00004" "{PMID:Zhu 2015:25590979}" "" "M" "no" "Israel" "" "0" "" "" "" "Pat59" "00285678" "" "" "" "1" "" "00004" "{PMID:Berger 2011:22019070}" "" "" "" "" "" "0" "" "" "" "" "00285679" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285680" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285681" "" "" "" "1" "" "00004" "{PMID:Zong 2015:25986071}" "" "" "" "" "" "0" "" "" "" "" "00285682" "" "" "" "1" "" "00004" "{PMID:Kettwig 2015:25583628}" "" "" "" "" "" "0" "" "" "" "" "00285683" "" "" "" "1" "" "00004" "{PMID:Calvo 2010:20818383}" "" "" "" "" "" "0" "" "" "" "" "00285684" "" "" "" "1" "" "00004" "{PMID:Ghezzi 2010:20362274}" "" "" "" "" "" "0" "" "" "" "" "00285685" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285686" "" "" "" "1" "" "00004" "{PMID:Febbo 2011:22138009}, {PMID:Hampel 2015:25394175}, {PMID:Sturgeon 2008:19042984}, {PMID:Carter 2013:23659877}, {PMID:Evaluation of Genomic Applications in Practice and Prevention (EGAPP Working Group. 2014:24071797}, {PMID:Lindberg 2013:23265383}" "" "" "" "" "" "0" "" "" "" "" "00285687" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285688" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285689" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00314886" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "Israel" "" "0" "" "" "" "Trio64" "00454650" "" "" "" "1" "" "00006" "{PMID:Ardisonne 2015:25934856}, {PMID:Legati 2016:26968897}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "NGSP38" "00454833" "" "" "" "1" "" "00006" "{PMID:Dekker 2023:36669495}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 35 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00037759" "00187" "00037760" "00187" "00037761" "00187" "00037762" "00187" "00037763" "04248" "00274159" "00198" "00285664" "05103" "00285665" "05103" "00285666" "00198" "00285667" "05103" "00285668" "05103" "00285669" "05103" "00285670" "05103" "00285671" "05103" "00285673" "05103" "00285674" "05103" "00285675" "05103" "00285676" "05103" "00285677" "00198" "00285678" "00198" "00285679" "05103" "00285680" "05103" "00285681" "05103" "00285682" "00198" "00285683" "00198" "00285684" "00198" "00285685" "05103" "00285686" "00198" "00285688" "05103" "00285689" "05103" "00314886" "00198" "00454650" "05534" "00454833" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01157, 04248, 04351, 04352, 05103, 05534, 05611, 06840 ## Count = 35 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000028310" "00187" "00037759" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028311" "00187" "00037760" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028312" "00187" "00037761" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028313" "00187" "00037762" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028314" "04248" "00037763" "01283" "Familial, X-linked recessive" "" "mitochondrial encephalomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000209104" "00198" "00274159" "00006" "Familial, X-linked recessive" "" "deceased; neonatal onset; mitochondrial disease criteria score 7; muscle biopsy" "0d" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000217299" "00198" "00285666" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Cowchock syndrome" "" "0000217300" "00198" "00285677" "00008" "Familial, X-linked" "10y" "progressive cerebellar ataxia, auditory neuropathy, axonal neuropathy, peroxisomal disorder ruled out, no dysmorphic features" "03y" "" "" "" "" "" "" "" "" "" "Cowchock syndrome" "" "0000217301" "00198" "00285678" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Ventriculomegaly, prenatal" "" "0000217302" "00198" "00285682" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Complex I deficiency" "" "0000217303" "00198" "00285683" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Complex I deficiency" "" "0000217304" "00198" "00285684" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Mitochondrial encephalomyopathy, X-linked" "" "0000217305" "00198" "00285686" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Malignant tumor of prostate" "" "0000218689" "05103" "00285664" "00008" "Unknown" "" "auditory neuropathy with muscle weak of lower limbs" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218690" "05103" "00285665" "00008" "Unknown" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "type 5" "deafness, X-linked" "" "0000218691" "05103" "00285667" "00008" "Unknown" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "type 5" "deafness, X-linked" "" "0000218692" "05103" "00285668" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 5" "deafness, X-linked" "" "0000218693" "05103" "00285669" "00008" "Unknown" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "type 5" "deafness, X-linked" "" "0000218694" "05103" "00285670" "00008" "Unknown" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218695" "05103" "00285671" "00008" "Unknown" "" "auditory neuropathy with muscle weak of lower limbs" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218696" "05103" "00285673" "00008" "Unknown" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "type 5" "deafness, X-linked" "" "0000218697" "05103" "00285674" "00008" "Unknown" "" "auditory neuropathy with muscle weak of lower limbs" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218698" "05103" "00285675" "00008" "Unknown" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "type 5" "deafness, X-linked" "" "0000218699" "05103" "00285676" "00008" "Unknown" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000218700" "05103" "00285679" "00008" "Unknown" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "type 5" "deafness, X-linked" "" "0000218701" "05103" "00285680" "00008" "Unknown" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "type 5" "deafness, X-linked" "" "0000218702" "05103" "00285681" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "type 5" "deafness, X-linked" "" "0000218703" "05103" "00285685" "00008" "Unknown" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "type 5" "deafness, X-linked" "" "0000218704" "05103" "00285688" "00008" "Unknown" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "type 5" "deafness, X-linked" "" "0000218705" "05103" "00285689" "00008" "Unknown" "" "auditory neuropathy with muscle weak of lower limbs" "" "" "" "" "" "" "" "" "" "" "deafness, X-linked" "" "0000238644" "00198" "00314886" "00006" "Unknown" "7y" "Myoclonus, cerebellar ataxia, cerebellar atrophy, ophthalmoplegia." "2y" "" "" "" "" "" "" "" "" "" "" "" "0000343287" "05534" "00454650" "00006" "Familial, X-linked recessive" "39y" "see papr; ..., cerebellar ataxia, optic atrophy, hypoacusis, peripheral neuropathy, intellectual disability" "01y" "" "" "" "" "" "" "" "" "" "slowly progressive mitochondrial disease" "" "0000343443" "05611" "00454833" "00006" "Familial, X-linked recessive" "1d" "see paper; ..., hypotonia, respiratory insufficiency; MRI brain intraventricular hemorrhage, delayed myelination; sister global developmental delay, epilepsy, tetraparesis, (suggestive of skewed X-inactivation)" "" "" "" "" "" "" "" "" "" "COXPD6" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 38 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000037992" "00037759" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000037993" "00037760" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000037994" "00037761" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000037995" "00037762" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000037996" "00037763" "1" "01283" "00006" "2015-04-17 10:27:28" "" "" "SEQ" "DNA" "" "" "0000275314" "00274159" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000286813" "00285663" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286814" "00285664" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286815" "00285665" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286816" "00285666" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286817" "00285667" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286818" "00285668" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286819" "00285669" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286820" "00285670" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286821" "00285671" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286822" "00285672" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286823" "00285673" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286824" "00285674" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286825" "00285675" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286826" "00285676" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286827" "00285677" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286828" "00285678" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286829" "00285679" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286830" "00285680" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286831" "00285681" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286832" "00285682" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286833" "00285683" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286834" "00285684" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286835" "00285685" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286836" "00285686" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286837" "00285687" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286838" "00285688" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286839" "00285689" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000316060" "00314886" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000456263" "00454650" "1" "00006" "00006" "2024-09-23 13:17:23" "" "" "SEQ" "DNA" "" "" "0000456444" "00454833" "1" "00006" "00006" "2024-09-28 10:13:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000037992" "AIFM1" "0000037993" "AIFM1" "0000037994" "AIFM1" "0000037995" "AIFM1" "0000037996" "AIFM1" "0000275314" "AIFM1" "0000286813" "AIFM1" "0000286814" "AIFM1" "0000286815" "AIFM1" "0000286816" "AIFM1" "0000286817" "AIFM1" "0000286818" "AIFM1" "0000286819" "AIFM1" "0000286820" "AIFM1" "0000286821" "AIFM1" "0000286822" "AIFM1" "0000286823" "AIFM1" "0000286824" "AIFM1" "0000286825" "AIFM1" "0000286826" "AIFM1" "0000286827" "AIFM1" "0000286828" "AIFM1" "0000286829" "AIFM1" "0000286830" "AIFM1" "0000286831" "AIFM1" "0000286832" "AIFM1" "0000286833" "AIFM1" "0000286834" "AIFM1" "0000286835" "AIFM1" "0000286836" "AIFM1" "0000286837" "AIFM1" "0000286838" "AIFM1" "0000286839" "AIFM1" "0000316060" "AIFM1" "0000456263" "AIFM1" ## 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 = 114 "{{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}}" "0000003227" "0" "30" "X" "129267464" "129267464" "del" "0" "00037" "AIFM1_000007" "g.129267464del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.130133489del" "" "likely benign" "" "0000009756" "0" "30" "X" "129279407" "129279407" "subst" "0.0169141" "00037" "AIFM1_000008" "g.129279407T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.130145432T>G" "" "likely benign" "" "0000065302" "1" "50" "X" "129283532" "129283532" "subst" "0" "00124" "AIFM1_000001" "g.129283532A>G" "80/208 cases" "{PMID:Tarpey 2009:19377476}" "" "D87D" "recurrent, found 80 times" "Germline" "" "" "0" "" "" "g.130149557A>G" "" "VUS" "" "0000065303" "1" "50" "X" "129283520" "129283520" "subst" "0.432078" "00124" "AIFM1_000002" "g.129283520A>G" "88/208 cases" "{PMID:Tarpey 2009:19377476}" "" "D91D" "recurrent, found 88 times" "Germline" "" "" "0" "" "" "g.130149545A>G" "" "VUS" "" "0000065304" "1" "50" "X" "129273827" "129273827" "subst" "6.17246E-5" "00124" "AIFM1_000004" "g.129273827C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L267L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.130139852C>T" "" "VUS" "" "0000065305" "1" "50" "X" "129273839" "129273839" "subst" "0" "00124" "AIFM1_000003" "g.129273839C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L263L" "found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.130139864C>T" "" "VUS" "" "0000065306" "21" "90" "X" "129271115" "129271115" "subst" "0" "01283" "AIFM1_000005" "g.129271115C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.130137140C>T" "" "pathogenic" "" "0000247732" "0" "10" "X" "129283520" "129283520" "subst" "0.432078" "02330" "AIFM1_000002" "g.129283520A>G" "" "" "" "AIFM1(NM_001130847.4):c.273T>C (p.D91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130149545A>G" "" "benign" "" "0000257458" "0" "50" "X" "129264123" "129264123" "subst" "0" "02330" "AIFM1_000011" "g.129264123T>G" "" "" "" "AIFM1(NM_004208.4):c.1592A>C (p.E531A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130130148T>G" "" "VUS" "" "0000257459" "0" "50" "X" "129290514" "129290514" "subst" "7.8309E-5" "02330" "AIFM1_000025" "g.129290514G>C" "" "" "" "AIFM1(NM_001130847.3):c.170C>G (p.S57C, p.(Ser57Cys)), AIFM1(NM_001130847.4):c.170C>G (p.S57C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130156540G>C" "" "VUS" "" "0000257460" "0" "30" "X" "129299559" "129299559" "subst" "0.000304166" "02330" "AIFM1_000027" "g.129299559G>A" "" "" "" "AIFM1(NM_001130847.3):c.72C>T (p.C24=), AIFM1(NM_001130847.4):c.72C>T (p.C24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130165585G>A" "" "likely benign" "" "0000257461" "0" "10" "X" "129272617" "129272617" "subst" "0.0111365" "02330" "AIFM1_000018" "g.129272617G>A" "" "" "" "AIFM1(NM_001130847.4):c.918C>T (p.I306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130138642G>A" "" "benign" "" "0000257462" "0" "30" "X" "129272596" "129272596" "subst" "2.79938E-5" "02330" "AIFM1_000017" "g.129272596G>A" "" "" "" "AIFM1(NM_001130847.3):c.939C>T (p.S313=), AIFM1(NM_001130847.4):c.939C>T (p.S313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130138621G>A" "" "likely benign" "" "0000257463" "0" "10" "X" "129271132" "129271132" "subst" "0.00972435" "02330" "AIFM1_000015" "g.129271132T>C" "" "" "" "AIFM1(NM_004208.4):c.996A>G (p.Q332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130137157T>C" "" "benign" "" "0000262136" "0" "30" "X" "129265781" "129265783" "del" "0" "01943" "AIFM1_000013" "g.129265781_129265783del" "" "" "" "AIFM1(NM_001130847.3):c.*677-5_*677-3delCTT, AIFM1(NM_004208.4):c.1449-5_1449-3delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130131806_130131808del" "" "likely benign" "" "0000262137" "0" "30" "X" "129267407" "129267407" "subst" "0.000833599" "01943" "AIFM1_000014" "g.129267407G>A" "" "" "" "AIFM1(NM_004208.3):c.1329C>T (p.Y443=), AIFM1(NM_004208.4):c.1329C>T (p.Y443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130133432G>A" "" "likely benign" "" "0000262138" "0" "30" "X" "129265750" "129265750" "subst" "5.63009E-6" "01943" "AIFM1_000012" "g.129265750G>A" "" "" "" "AIFM1(NM_004208.3):c.1473C>T (p.G491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130131775G>A" "" "likely benign" "" "0000262139" "0" "30" "X" "129290514" "129290514" "subst" "7.8309E-5" "01943" "AIFM1_000025" "g.129290514G>C" "" "" "" "AIFM1(NM_001130847.3):c.170C>G (p.S57C, p.(Ser57Cys)), AIFM1(NM_001130847.4):c.170C>G (p.S57C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130156540G>C" "" "likely benign" "" "0000262140" "0" "50" "X" "129290511" "129290511" "subst" "5.59334E-6" "01943" "AIFM1_000024" "g.129290511C>A" "" "" "" "AIFM1(NM_001130847.3):c.173G>T (p.G58V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130156537C>A" "" "VUS" "" "0000262141" "0" "50" "X" "129283525" "129283525" "subst" "0" "01943" "AIFM1_000023" "g.129283525C>T" "" "" "" "AIFM1(NM_001130847.3):c.268G>A (p.E90K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130149550C>T" "" "VUS" "" "0000335504" "0" "50" "X" "129264088" "129264088" "subst" "1.11914E-5" "01804" "AIFM1_000009" "g.129264088T>C" "" "" "" "AIFM1(NM_001130846.2):c.571A>G (p.(Ile191Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130130113T>C" "" "VUS" "" "0000335505" "0" "30" "X" "129264121" "129264121" "subst" "0" "01804" "AIFM1_000010" "g.129264121T>C" "" "" "" "AIFM1(NM_001130846.2):c.538A>G (p.(Ser180Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130130146T>C" "" "likely benign" "" "0000335509" "0" "50" "X" "129283506" "129283506" "subst" "8.39706E-5" "01804" "AIFM1_000021" "g.129283506T>C" "" "" "" "AIFM1(NM_001130847.3):c.287A>G (p.(Asn96Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130149531T>C" "" "VUS" "" "0000335511" "0" "30" "X" "129299528" "129299528" "subst" "0.00129136" "01804" "AIFM1_000026" "g.129299528G>A" "" "" "" "AIFM1(NM_001130847.3):c.103C>T (p.P35S, p.(Pro35Ser)), AIFM1(NM_001130847.4):c.103C>T (p.P35S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130165554G>A" "" "likely benign" "" "0000349410" "0" "50" "X" "129273784" "129273784" "subst" "0" "02327" "AIFM1_000028" "g.129273784T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130139809T>C" "" "VUS" "" "0000573500" "0" "50" "X" "129264054" "129264054" "subst" "0" "01943" "AIFM1_000030" "g.129264054G>A" "" "" "" "AIFM1(NM_004208.3):c.1661C>T (p.P554L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130130079G>A" "" "VUS" "" "0000573502" "0" "50" "X" "129267348" "129267348" "subst" "0.000190217" "01943" "AIFM1_000032" "g.129267348C>A" "" "" "" "AIFM1(NM_004208.3):c.1388G>T (p.R463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130133373C>A" "" "VUS" "" "0000573503" "0" "90" "X" "129267384" "129267384" "subst" "0" "01804" "AIFM1_000033" "g.129267384C>T" "" "" "" "AIFM1(NM_001130846.2):c.296G>A (p.(Arg99Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130133409C>T" "" "pathogenic" "" "0000573504" "0" "50" "X" "129274528" "129274528" "subst" "0" "01943" "AIFM1_000019" "g.129274528T>C" "" "" "" "AIFM1(NM_001130847.3):c.761A>G (p.E254G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130140553T>C" "" "VUS" "" "0000573505" "0" "30" "X" "129289229" "129289229" "subst" "0" "01943" "AIFM1_000034" "g.129289229T>C" "" "" "" "AIFM1(NM_145812.2):c.139A>G (p.R47G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130155255A>C" "" "likely benign" "" "0000573506" "0" "50" "X" "129289256" "129289256" "subst" "5.59506E-6" "02327" "AIFM1_000035" "g.129289256G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130155282C>A" "" "VUS" "" "0000573507" "0" "30" "X" "129290565" "129290565" "subst" "0" "01943" "AIFM1_000036" "g.129290565T>C" "" "" "" "AIFM1(NM_001130847.3):c.119A>G (p.Q40R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130156591T>C" "" "likely benign" "" "0000573508" "0" "10" "X" "129299528" "129299528" "subst" "0.00129136" "02330" "AIFM1_000026" "g.129299528G>A" "" "" "" "AIFM1(NM_001130847.3):c.103C>T (p.P35S, p.(Pro35Ser)), AIFM1(NM_001130847.4):c.103C>T (p.P35S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130165554G>A" "" "benign" "" "0000573509" "0" "10" "X" "129299528" "129299528" "subst" "0.00129136" "01943" "AIFM1_000026" "g.129299528G>A" "" "" "" "AIFM1(NM_001130847.3):c.103C>T (p.P35S, p.(Pro35Ser)), AIFM1(NM_001130847.4):c.103C>T (p.P35S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130165554G>A" "" "benign" "" "0000573510" "0" "30" "X" "129299559" "129299559" "subst" "0.000304166" "02325" "AIFM1_000027" "g.129299559G>A" "" "" "" "AIFM1(NM_001130847.3):c.72C>T (p.C24=), AIFM1(NM_001130847.4):c.72C>T (p.C24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130165585G>A" "" "likely benign" "" "0000619001" "0" "10" "X" "129267407" "129267407" "subst" "0.000833599" "02330" "AIFM1_000014" "g.129267407G>A" "" "" "" "AIFM1(NM_004208.3):c.1329C>T (p.Y443=), AIFM1(NM_004208.4):c.1329C>T (p.Y443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130133432G>A" "" "benign" "" "0000619002" "0" "50" "X" "129273804" "129273804" "subst" "0" "02325" "AIFM1_000041" "g.129273804G>A" "" "" "" "AIFM1(NM_001130847.4):c.824C>T (p.A275V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130139829G>A" "" "VUS" "" "0000619003" "0" "30" "X" "129283531" "129283531" "subst" "0.000280238" "01943" "AIFM1_000042" "g.129283531T>C" "" "" "" "AIFM1(NM_001130847.3):c.262A>G (p.M88V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130149556T>C" "" "likely benign" "" "0000624420" "0" "30" "X" "129270098" "129270098" "subst" "0.000559459" "01943" "AIFM1_000038" "g.129270098A>C" "" "" "" "AIFM1(NM_004208.3):c.1227T>G (p.T409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130136123A>C" "" "likely benign" "" "0000624421" "0" "30" "X" "129270665" "129270665" "subst" "0" "01943" "AIFM1_000039" "g.129270665C>T" "" "" "" "AIFM1(NM_004208.3):c.1117G>A (p.G373R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130136690C>T" "" "likely benign" "" "0000624422" "0" "30" "X" "129270685" "129270685" "subst" "3.92617E-5" "01943" "AIFM1_000040" "g.129270685T>C" "" "" "" "AIFM1(NM_004208.3):c.1097A>G (p.N366S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130136710T>C" "" "likely benign" "" "0000629278" "21" "90" "X" "129265749" "129265749" "subst" "0" "00006" "AIFM1_000043" "g.129265749A>G" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "moderate genotype/phenotype correlation" "Germline" "" "" "0" "" "" "g.130131774A>G" "" "pathogenic" "" "0000642555" "1" "77" "X" "129263554" "129263554" "subst" "0" "00004" "AIFM1_000044" "g.129263554A>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130129579A>T" "" "likely pathogenic" "" "0000642556" "1" "77" "X" "129264037" "129264037" "subst" "0" "00004" "AIFM1_000045" "g.129264037A>G" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130130062A>G" "" "likely pathogenic" "" "0000642557" "1" "77" "X" "129265731" "129265731" "subst" "5.62696E-6" "00004" "AIFM1_000046" "g.129265731C>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130131756C>T" "" "likely pathogenic" "" "0000642558" "1" "99" "X" "129265745" "129265745" "subst" "0" "00004" "AIFM1_000047" "g.129265745T>A" "" "{DB:DVD}, {PMID:Cowchock 1985:3856385}, {PMID:Bird 1993:20301532}, {PMID:Rinaldi 2012:23217327}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130131770T>A" "" "pathogenic" "" "0000642559" "1" "77" "X" "129267312" "129267312" "subst" "0" "00004" "AIFM1_000048" "g.129267312G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130133337G>A" "" "likely pathogenic" "" "0000642560" "1" "99" "X" "129267384" "129267384" "subst" "0" "00004" "AIFM1_000033" "g.129267384C>T" "" "{DB:DVD}, {PMID:Wang 2006:16816020}, {PMID:Zong 2015:25986071}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130133409C>T" "" "pathogenic" "" "0000642561" "1" "77" "X" "129267417" "129267417" "subst" "0" "00004" "AIFM1_000049" "g.129267417G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130133442G>A" "" "likely pathogenic" "" "0000642562" "1" "99" "X" "129270060" "129270060" "subst" "0" "00004" "AIFM1_000050" "g.129270060C>T" "" "{DB:DVD}, {PMID:Zong 2015:25986071}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130136085C>T" "" "pathogenic" "" "0000642563" "1" "99" "X" "129270061" "129270061" "subst" "0" "00004" "AIFM1_000051" "g.129270061G>A" "" "{DB:DVD}, {PMID:Zong 2015:25986071}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130136086G>A" "" "pathogenic" "" "0000642564" "1" "77" "X" "129270141" "129270141" "subst" "0" "00004" "AIFM1_000052" "g.129270141A>C" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130136166A>C" "" "likely pathogenic" "" "0000642565" "1" "33" "X" "129270669" "129270669" "subst" "8.40713E-5" "00004" "AIFM1_000053" "g.129270669G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130136694G>A" "" "likely benign" "" "0000642566" "1" "77" "X" "129270685" "129270685" "subst" "3.92617E-5" "00004" "AIFM1_000040" "g.129270685T>C" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130136710T>C" "" "likely pathogenic" "" "0000642567" "1" "77" "X" "129270704" "129270704" "subst" "0" "00004" "AIFM1_000054" "g.129270704C>G" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130136729C>G" "" "likely pathogenic" "" "0000642568" "1" "99" "X" "129271098" "129271098" "subst" "0.000184697" "00004" "AIFM1_000055" "g.129271098G>A" "" "{DB:DVD}, {PMID:Zong 2015:25986071}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130137123G>A" "" "pathogenic" "" "0000642569" "20" "90" "X" "129271109" "129271109" "subst" "0" "00004" "AIFM1_000056" "g.129271109A>G" "" "{DB:DVD}, {PMID:Zhu 2015:25590979}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.130137134A>G" "" "pathogenic" "" "0000642570" "1" "99" "X" "129272612" "129272612" "subst" "0" "00004" "AIFM1_000057" "g.129272612C>T" "" "{DB:DVD}, {PMID:Berger 2011:22019070}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130138637C>T" "" "pathogenic" "" "0000642571" "1" "77" "X" "129272675" "129272675" "subst" "0" "00004" "AIFM1_000058" "g.129272675A>G" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130138700A>G" "" "likely pathogenic" "" "0000642572" "1" "77" "X" "129273783" "129273783" "subst" "2.24259E-5" "00004" "AIFM1_000059" "g.129273783G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130139808G>A" "" "likely pathogenic" "" "0000642573" "1" "99" "X" "129274511" "129274511" "subst" "0" "00004" "AIFM1_000060" "g.129274511T>C" "" "{DB:DVD}, {PMID:Zong 2015:25986071}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130140536T>C" "" "pathogenic" "" "0000642574" "1" "99" "X" "129274562" "129274562" "subst" "0" "00004" "AIFM1_000061" "g.129274562C>A" "" "{DB:DVD}, {PMID:Kettwig 2015:25583628}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130140587C>A" "" "pathogenic" "" "0000642575" "1" "99" "X" "129279527" "129279527" "subst" "0" "00004" "AIFM1_000062" "g.129279527G>A" "" "{DB:DVD}, {PMID:Calvo 2010:20818383}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130145552G>A" "" "pathogenic" "" "0000642576" "1" "99" "X" "129281470" "129281472" "del" "0" "00004" "AIFM1_000063" "g.129281470_129281472del" "" "{DB:DVD}, {PMID:Ghezzi 2010:20362274}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130147495_130147497del" "" "pathogenic" "" "0000642577" "1" "77" "X" "129281500" "129281501" "delins" "0" "00004" "AIFM1_000064" "g.129281500_129281501delinsAG" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130147525_130147526delinsAG" "" "likely pathogenic" "" "0000642578" "1" "55" "X" "129281576" "129281576" "subst" "0" "00004" "AIFM1_000065" "g.129281576G>A" "" "{DB:DVD}, {PMID:Febbo 2011:22138009}, {PMID:Hampel 2015:25394175}, {PMID:Sturgeon 2008:19042984}, {PMID:Carter 2013:23659877}, {PMID:Evaluation of Genomic Applications in Practice and Prevention (EGAPP Working Group. 2014:24071797}, {PMID:Lindberg 2013:23265383}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130147601G>A" "" "VUS" "" "0000642579" "1" "77" "X" "129281749" "129281749" "subst" "1.67957E-5" "00004" "AIFM1_000066" "g.129281749C>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130147774C>T" "" "likely pathogenic" "" "0000642580" "1" "77" "X" "129281767" "129281767" "subst" "0" "00004" "AIFM1_000067" "g.129281767G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130147792G>A" "" "likely pathogenic" "" "0000642581" "1" "77" "X" "129299753" "129299753" "subst" "0" "00004" "AIFM1_000068" "g.129299753C>G" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.130165779C>G" "" "likely pathogenic" "" "0000659083" "0" "30" "X" "129272596" "129272596" "subst" "2.79938E-5" "01943" "AIFM1_000017" "g.129272596G>A" "" "" "" "AIFM1(NM_001130847.3):c.939C>T (p.S313=), AIFM1(NM_001130847.4):c.939C>T (p.S313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130138621G>A" "" "likely benign" "" "0000659084" "0" "30" "X" "129299559" "129299559" "subst" "0.000304166" "01943" "AIFM1_000027" "g.129299559G>A" "" "" "" "AIFM1(NM_001130847.3):c.72C>T (p.C24=), AIFM1(NM_001130847.4):c.72C>T (p.C24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130165585G>A" "" "likely benign" "" "0000659085" "0" "30" "X" "129299559" "129299559" "subst" "0.000304166" "02326" "AIFM1_000027" "g.129299559G>A" "" "" "" "AIFM1(NM_001130847.3):c.72C>T (p.C24=), AIFM1(NM_001130847.4):c.72C>T (p.C24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130165585G>A" "" "likely benign" "" "0000682089" "0" "30" "X" "129264072" "129264072" "subst" "3.91635E-5" "01943" "AIFM1_000069" "g.129264072G>A" "" "" "" "AIFM1(NM_004208.3):c.1643C>T (p.P548L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682090" "0" "50" "X" "129272633" "129272633" "subst" "0" "02325" "AIFM1_000070" "g.129272633T>C" "" "" "" "AIFM1(NM_001130847.4):c.902A>G (p.K301R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682091" "0" "50" "X" "129274584" "129274584" "subst" "0" "02327" "AIFM1_000071" "g.129274584C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682092" "0" "30" "X" "129283519" "129283519" "subst" "0.000341639" "01943" "AIFM1_000022" "g.129283519C>T" "" "" "" "AIFM1(NM_001130847.3):c.274G>A (p.E92K), AIFM1(NM_004208.4):c.274G>A (p.E92K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682093" "0" "50" "X" "129290514" "129290514" "subst" "7.8309E-5" "01804" "AIFM1_000025" "g.129290514G>C" "" "" "" "AIFM1(NM_001130847.3):c.170C>G (p.S57C, p.(Ser57Cys)), AIFM1(NM_001130847.4):c.170C>G (p.S57C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693338" "0" "30" "X" "129272587" "129272587" "subst" "0.000403165" "01943" "AIFM1_000072" "g.129272587G>T" "" "" "" "AIFM1(NM_001130847.3):c.948C>A (p.A316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693339" "0" "30" "X" "129272642" "129272642" "subst" "3.91683E-5" "01943" "AIFM1_000073" "g.129272642C>T" "" "" "" "AIFM1(NM_001130847.3):c.893G>A (p.R298Q), AIFM1(NM_004208.4):c.893G>A (p.R298Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698186" "0" "70" "X" "129281779" "129281779" "subst" "0" "00006" "AIFM1_000074" "g.129281779G>A" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.130147804G>A" "" "VUS" "" "0000728418" "0" "50" "X" "129267294" "129267294" "subst" "5.60117E-6" "01943" "AIFM1_000075" "g.129267294A>G" "" "" "" "AIFM1(NM_004208.3):c.1442T>C (p.M481T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728419" "0" "30" "X" "129267320" "129267320" "subst" "0.000649256" "01943" "AIFM1_000031" "g.129267320A>G" "" "" "" "AIFM1(NM_004208.3):c.1416T>C (p.A472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809885" "0" "70" "X" "129267367" "129267367" "subst" "0" "02329" "AIFM1_000076" "g.129267367G>A" "" "" "" "AIFM1(NM_004208.4):c.1369C>T (p.H457Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000809886" "0" "30" "X" "129270160" "129270160" "subst" "0" "01943" "AIFM1_000077" "g.129270160C>T" "" "" "" "AIFM1(NM_004208.3):c.1165G>A (p.V389I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809887" "0" "30" "X" "129283451" "129283451" "subst" "2.79849E-5" "01943" "AIFM1_000078" "g.129283451C>T" "" "" "" "AIFM1(NM_001130847.3):c.342G>A (p.A114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809888" "0" "50" "X" "129289132" "129289132" "subst" "1.11872E-5" "01943" "AIFM1_000079" "g.129289132T>C" "" "" "" "AIFM1(NM_145812.2):c.236A>G (p.Y79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809889" "0" "50" "X" "129289199" "129289199" "subst" "0" "01804" "AIFM1_000080" "g.129289199T>A" "" "" "" "AIFM1(NM_145812.2):c.169A>T (p.(Lys57*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809890" "0" "50" "X" "129299623" "129299623" "subst" "0" "01943" "AIFM1_000081" "g.129299623C>T" "" "" "" "AIFM1(NM_001130847.3):c.8G>A (p.R3Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856339" "0" "30" "X" "129267407" "129267407" "subst" "0.000833599" "02326" "AIFM1_000014" "g.129267407G>A" "" "" "" "AIFM1(NM_004208.3):c.1329C>T (p.Y443=), AIFM1(NM_004208.4):c.1329C>T (p.Y443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867034" "0" "30" "X" "129271123" "129271123" "subst" "1.11995E-5" "01943" "AIFM1_000082" "g.129271123G>A" "" "" "" "AIFM1(NM_004208.3):c.1005C>T (p.P335=), AIFM1(NM_004208.4):c.1005C>T (p.P335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867035" "0" "30" "X" "129299577" "129299577" "subst" "0.000121818" "01943" "AIFM1_000083" "g.129299577G>C" "" "" "" "AIFM1(NM_001130847.3):c.54C>G (p.P18=), AIFM1(NM_001130847.4):c.54C>G (p.P18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895929" "0" "70" "X" "129267369" "129267369" "subst" "0" "02325" "AIFM1_000084" "g.129267369T>A" "" "" "" "AIFM1(NM_004208.4):c.1367A>T (p.D456V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895930" "0" "50" "X" "129290482" "129290482" "subst" "0" "02327" "AIFM1_000085" "g.129290482C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895931" "0" "30" "X" "129290582" "129290582" "subst" "0" "02325" "AIFM1_000086" "g.129290582G>T" "" "" "" "AIFM1(NM_004208.4):c.107-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927258" "0" "70" "X" "129270060" "129270060" "subst" "0" "02327" "AIFM1_000050" "g.129270060C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931336" "0" "30" "X" "129299568" "129299568" "subst" "3.23801E-5" "02325" "AIFM1_000087" "g.129299568C>T" "" "" "" "AIFM1(NM_004208.4):c.63G>A (p.R21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970733" "0" "50" "X" "129272642" "129272642" "subst" "3.91683E-5" "02325" "AIFM1_000073" "g.129272642C>T" "" "" "" "AIFM1(NM_001130847.3):c.893G>A (p.R298Q), AIFM1(NM_004208.4):c.893G>A (p.R298Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970734" "0" "30" "X" "129290418" "129290418" "subst" "1.67989E-5" "02330" "AIFM1_000088" "g.129290418G>A" "" "" "" "AIFM1(NM_001130847.4):c.249+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984447" "0" "10" "X" "129264071" "129264071" "subst" "9.51108E-5" "02330" "AIFM1_000089" "g.129264071C>T" "" "" "" "AIFM1(NM_004208.4):c.1644G>A (p.P548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984448" "0" "30" "X" "129273864" "129273864" "subst" "0" "02330" "AIFM1_000090" "g.129273864A>G" "" "" "" "AIFM1(NM_001130847.4):c.782-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006421" "0" "50" "X" "129265722" "129265722" "subst" "0" "01804" "AIFM1_000091" "g.129265722T>A" "" "" "" "AIFM1(NM_004208.3):c.1501A>T (p.(Ser501Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008489" "21" "90" "X" "129273844" "129273844" "subst" "0" "00006" "AIFM1_000092" "g.129273844C>T" "" "{PMID:Ardisonne 2015:25934856}, {PMID:Legati 2016:26968897}" "" "" "" "Germline" "" "" "0" "" "" "g.130139869C>T" "" "pathogenic (recessive)" "" "0001010127" "21" "90" "X" "129270665" "129270665" "subst" "0" "00006" "AIFM1_000039" "g.129270665C>T" "" "{PMID:Dekker 2023:36669495}" "" "" "partial skip ex11; confirmed by mini-gene exon trapping analysis" "Germline" "" "" "0" "" "" "g.130136690C>T" "" "pathogenic (recessive)" "" "0001015984" "0" "30" "X" "129265781" "129265783" "del" "0" "02330" "AIFM1_000013" "g.129265781_129265783del" "" "" "" "AIFM1(NM_001130847.3):c.*677-5_*677-3delCTT, AIFM1(NM_004208.4):c.1449-5_1449-3delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022242" "0" "70" "X" "129270665" "129270665" "subst" "0" "04796" "AIFM1_000039" "g.129270665C>T" "" "" "" "" "in vitro analysis 293T cells mini-gene exon trapping assay: effect on RNA inclusion of intron sequences" "CLASSIFICATION record" "" "" "0" "" "" "g.130136690C>T" "" "likely pathogenic" "" "0001027435" "0" "30" "X" "129283454" "129283454" "subst" "5.03702E-5" "02325" "AIFM1_000093" "g.129283454G>A" "" "" "" "AIFM1(NM_004208.4):c.339C>T (p.A113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027436" "0" "30" "X" "129283519" "129283519" "subst" "0.000341639" "02326" "AIFM1_000022" "g.129283519C>T" "" "" "" "AIFM1(NM_001130847.3):c.274G>A (p.E92K), AIFM1(NM_004208.4):c.274G>A (p.E92K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027437" "0" "30" "X" "129299577" "129299577" "subst" "0.000121818" "02330" "AIFM1_000083" "g.129299577G>C" "" "" "" "AIFM1(NM_001130847.3):c.54C>G (p.P18=), AIFM1(NM_001130847.4):c.54C>G (p.P18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044095" "0" "30" "X" "129263933" "129263933" "subst" "0.000106617" "02326" "AIFM1_000094" "g.129263933A>G" "" "" "" "AIFM1(NM_004208.4):c.1770+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044096" "0" "30" "X" "129271123" "129271123" "subst" "1.11995E-5" "02330" "AIFM1_000082" "g.129271123G>A" "" "" "" "AIFM1(NM_004208.3):c.1005C>T (p.P335=), AIFM1(NM_004208.4):c.1005C>T (p.P335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044097" "0" "50" "X" "129273783" "129273783" "subst" "2.24259E-5" "01804" "AIFM1_000059" "g.129273783G>A" "" "" "" "AIFM1(NM_004208.4):c.845C>T (p.(Thr282Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044098" "0" "30" "X" "129279559" "129279559" "subst" "0" "02330" "AIFM1_000095" "g.129279559G>C" "" "" "" "AIFM1(NM_001130847.4):c.606-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044099" "0" "30" "X" "129289210" "129289210" "subst" "0" "01804" "AIFM1_000096" "g.129289210C>G" "" "" "" "AIFM1(NM_145812.3):c.158G>C (p.(Gly53Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046839" "0" "50" "X" "129283465" "129283465" "subst" "1.11926E-5" "02325" "AIFM1_000097" "g.129283465G>T" "" "" "" "AIFM1(NM_004208.4):c.328C>A (p.Q110K)" "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 AIFM1 ## Count = 114 "{{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}}" "0000003227" "00024036" "30" "1306" "-34" "1306" "-34" "c.1306-34del" "r.(=)" "p.(=)" "12i" "0000009756" "00024036" "30" "696" "47" "696" "47" "c.696+47A>C" "r.(=)" "p.(=)" "5i" "0000065302" "00024036" "50" "261" "0" "261" "0" "c.261T>C" "r.(?)" "p.(=)" "3" "0000065303" "00024036" "50" "273" "0" "273" "0" "c.273T>C" "r.(?)" "p.(=)" "3" "0000065304" "00024036" "50" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(=)" "8" "0000065305" "00024036" "50" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.?" "8" "0000065306" "00024036" "90" "1013" "0" "1013" "0" "c.1013G>A" "r.(?)" "p.(Gly338Glu)" "10" "0000247732" "00024036" "10" "273" "0" "273" "0" "c.273T>C" "r.(?)" "p.(Asp91=)" "" "0000257458" "00024036" "50" "1592" "0" "1592" "0" "c.1592A>C" "r.(?)" "p.(Glu531Ala)" "" "0000257459" "00024036" "50" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ser57Cys)" "" "0000257460" "00024036" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Cys24=)" "" "0000257461" "00024036" "10" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Ile306=)" "" "0000257462" "00024036" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ser313=)" "" "0000257463" "00024036" "10" "996" "0" "996" "0" "c.996A>G" "r.(?)" "p.(Gln332=)" "" "0000262136" "00024036" "30" "1449" "-5" "1449" "-3" "c.1449-5_1449-3del" "r.spl?" "p.?" "" "0000262137" "00024036" "30" "1329" "0" "1329" "0" "c.1329C>T" "r.(?)" "p.(Tyr443=)" "" "0000262138" "00024036" "30" "1473" "0" "1473" "0" "c.1473C>T" "r.(?)" "p.(Gly491=)" "" "0000262139" "00024036" "30" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ser57Cys)" "" "0000262140" "00024036" "50" "173" "0" "173" "0" "c.173G>T" "r.(?)" "p.(Gly58Val)" "" "0000262141" "00024036" "50" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Glu90Lys)" "" "0000335504" "00024036" "50" "1627" "0" "1627" "0" "c.1627A>G" "r.(?)" "p.(Ile543Val)" "" "0000335505" "00024036" "30" "1594" "0" "1594" "0" "c.1594A>G" "r.(?)" "p.(Ser532Gly)" "" "0000335509" "00024036" "50" "287" "0" "287" "0" "c.287A>G" "r.(?)" "p.(Asn96Ser)" "" "0000335511" "00024036" "30" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Pro35Ser)" "" "0000349410" "00024036" "50" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Thr282Ala)" "" "0000573500" "00024036" "50" "1661" "0" "1661" "0" "c.1661C>T" "r.(?)" "p.(Pro554Leu)" "" "0000573502" "00024036" "50" "1388" "0" "1388" "0" "c.1388G>T" "r.(?)" "p.(Arg463Ile)" "" "0000573503" "00024036" "90" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Arg451Gln)" "" "0000573504" "00024036" "50" "761" "0" "761" "0" "c.761A>G" "r.(?)" "p.(Glu254Gly)" "" "0000573505" "00024036" "30" "249" "1206" "249" "1206" "c.249+1206A>G" "r.(=)" "p.(=)" "" "0000573506" "00024036" "50" "249" "1179" "249" "1179" "c.249+1179C>T" "r.(=)" "p.(=)" "" "0000573507" "00024036" "30" "119" "0" "119" "0" "c.119A>G" "r.(?)" "p.(Gln40Arg)" "" "0000573508" "00024036" "10" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Pro35Ser)" "" "0000573509" "00024036" "10" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Pro35Ser)" "" "0000573510" "00024036" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Cys24=)" "" "0000619001" "00024036" "10" "1329" "0" "1329" "0" "c.1329C>T" "r.(?)" "p.(Tyr443=)" "" "0000619002" "00024036" "50" "824" "0" "824" "0" "c.824C>T" "r.(?)" "p.(Ala275Val)" "" "0000619003" "00024036" "30" "262" "0" "262" "0" "c.262A>G" "r.(?)" "p.(Met88Val)" "" "0000624420" "00024036" "30" "1227" "0" "1227" "0" "c.1227T>G" "r.(?)" "p.(Thr409=)" "" "0000624421" "00024036" "30" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Gly373Arg)" "" "0000624422" "00024036" "30" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(Asn366Ser)" "" "0000629278" "00024036" "90" "1474" "0" "1474" "0" "c.1474T>C" "r.(?)" "p.(Tyr492His)" "" "0000642555" "00024036" "77" "1820" "0" "1820" "0" "c.1820T>A" "r.(?)" "p.(Leu607Gln)" "16" "0000642556" "00024036" "77" "1678" "0" "1678" "0" "c.1678T>C" "r.(?)" "p.(Tyr560His)" "15" "0000642557" "00024036" "77" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Val498Met)" "14" "0000642558" "00024036" "99" "1478" "0" "1478" "0" "c.1478A>T" "r.(?)" "p.(Glu493Val)" "14" "0000642559" "00024036" "77" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Pro475Leu)" "13" "0000642560" "00024036" "99" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Arg451Gln)" "13" "0000642561" "00024036" "77" "1319" "0" "1319" "0" "c.1319C>T" "r.(?)" "p.(Ala440Val)" "13" "0000642562" "00024036" "99" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Arg422Gln)" "12" "0000642563" "00024036" "99" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Trp)" "12" "0000642564" "00024036" "77" "1184" "0" "1184" "0" "c.1184T>G" "r.(?)" "p.(Val395Gly)" "12" "0000642565" "00024036" "33" "1113" "0" "1113" "0" "c.1113C>T" "r.(=)" "p.(=)" "11" "0000642566" "00024036" "77" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(Asn366Ser)" "11" "0000642567" "00024036" "77" "1078" "0" "1078" "0" "c.1078G>C" "r.(?)" "p.(Gly360Arg)" "11" "0000642568" "00024036" "99" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Leu344Phe)" "10" "0000642569" "00024036" "90" "1019" "0" "1019" "0" "c.1019T>C" "r.(?)" "p.(Met340Thr)" "10" "0000642570" "00024036" "99" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Gly308Glu)" "9" "0000642571" "00024036" "77" "860" "0" "860" "0" "c.860T>C" "r.(?)" "p.(Ile287Thr)" "9" "0000642572" "00024036" "77" "845" "0" "845" "0" "c.845C>T" "r.(?)" "p.(Thr282Met)" "8" "0000642573" "00024036" "99" "778" "0" "778" "0" "c.778A>G" "r.(?)" "p.(Thr260Ala)" "7" "0000642574" "00024036" "99" "727" "0" "727" "0" "c.727G>T" "r.(?)" "p.(Val243Leu)" "7" "0000642575" "00024036" "99" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Pro208Leu)" "6" "0000642576" "00024036" "99" "603" "0" "605" "0" "c.603_605del" "r.(?)" "p.(Arg201del)" "5" "0000642577" "00024036" "77" "572" "0" "573" "0" "c.572_573delinsCT" "r.(?)" "p.(Leu191Pro)" "5" "0000642578" "00024036" "55" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Pro166Leu)" "5" "0000642579" "00024036" "77" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Arg151Gln)" "4" "0000642580" "00024036" "77" "434" "0" "434" "0" "c.434C>T" "r.(?)" "p.(Ala145Val)" "4" "0000642581" "00024036" "77" "-123" "0" "-123" "0" "c.-123G>C" "r.(=)" "p.(=)" "1" "0000659083" "00024036" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ser313=)" "" "0000659084" "00024036" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Cys24=)" "" "0000659085" "00024036" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Cys24=)" "" "0000682089" "00024036" "30" "1643" "0" "1643" "0" "c.1643C>T" "r.(?)" "p.(Pro548Leu)" "" "0000682090" "00024036" "50" "902" "0" "902" "0" "c.902A>G" "r.(?)" "p.(Lys301Arg)" "" "0000682091" "00024036" "50" "705" "0" "705" "0" "c.705G>C" "r.(?)" "p.(Gln235His)" "" "0000682092" "00024036" "30" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Glu92Lys)" "" "0000682093" "00024036" "50" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ser57Cys)" "" "0000693338" "00024036" "30" "948" "0" "948" "0" "c.948C>A" "r.(?)" "p.(Ala316=)" "" "0000693339" "00024036" "30" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298Gln)" "" "0000698186" "00024036" "70" "422" "0" "422" "0" "c.422C>T" "r.(?)" "p.(Thr141Ile)" "" "0000728418" "00024036" "50" "1442" "0" "1442" "0" "c.1442T>C" "r.(?)" "p.(Met481Thr)" "" "0000728419" "00024036" "30" "1416" "0" "1416" "0" "c.1416T>C" "r.(?)" "p.(Ala472=)" "" "0000809885" "00024036" "70" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(His457Tyr)" "" "0000809886" "00024036" "30" "1165" "0" "1165" "0" "c.1165G>A" "r.(?)" "p.(Val389Ile)" "" "0000809887" "00024036" "30" "342" "0" "342" "0" "c.342G>A" "r.(?)" "p.(Ala114=)" "" "0000809888" "00024036" "50" "249" "1303" "249" "1303" "c.249+1303A>G" "r.(=)" "p.(=)" "" "0000809889" "00024036" "50" "249" "1236" "249" "1236" "c.249+1236A>T" "r.(=)" "p.(=)" "" "0000809890" "00024036" "50" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Arg3Gln)" "" "0000856339" "00024036" "30" "1329" "0" "1329" "0" "c.1329C>T" "r.(?)" "p.(Tyr443=)" "" "0000867034" "00024036" "30" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Pro335=)" "" "0000867035" "00024036" "30" "54" "0" "54" "0" "c.54C>G" "r.(?)" "p.(Pro18=)" "" "0000895929" "00024036" "70" "1367" "0" "1367" "0" "c.1367A>T" "r.(?)" "p.(Asp456Val)" "" "0000895930" "00024036" "50" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Val68Met)" "" "0000895931" "00024036" "30" "107" "-5" "107" "-5" "c.107-5C>A" "r.spl?" "p.?" "" "0000927258" "00024036" "70" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Arg422Gln)" "" "0000931336" "00024036" "30" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(=)" "" "0000970733" "00024036" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298Gln)" "" "0000970734" "00024036" "30" "249" "17" "249" "17" "c.249+17C>T" "r.(=)" "p.(=)" "" "0000984447" "00024036" "10" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(=)" "" "0000984448" "00024036" "30" "782" "-18" "782" "-18" "c.782-18T>C" "r.(=)" "p.(=)" "" "0001006421" "00024036" "50" "1501" "0" "1501" "0" "c.1501A>T" "r.(?)" "p.(Ser501Cys)" "" "0001008489" "00024036" "90" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Gly262Ser)" "" "0001010127" "00024036" "90" "1117" "0" "1117" "0" "c.1117G>A" "r.[1076_1164del,1117g>a]" "p.[Glu359GlyfsTer4,Gly373Arg]" "" "0001015984" "00024036" "30" "1449" "-5" "1449" "-3" "c.1449-5_1449-3del" "r.spl?" "p.?" "" "0001022242" "00024036" "70" "1117" "0" "1117" "0" "c.1117G>A" "r.1076_1164del" "p.Glu359GlyfsTer4" "11" "0001027435" "00024036" "30" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(=)" "" "0001027436" "00024036" "30" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Glu92Lys)" "" "0001027437" "00024036" "30" "54" "0" "54" "0" "c.54C>G" "r.(?)" "p.(Pro18=)" "" "0001044095" "00024036" "30" "1770" "12" "1770" "12" "c.1770+12T>C" "r.(=)" "p.(=)" "" "0001044096" "00024036" "30" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Pro335=)" "" "0001044097" "00024036" "50" "845" "0" "845" "0" "c.845C>T" "r.(?)" "p.(Thr282Met)" "" "0001044098" "00024036" "30" "606" "-15" "606" "-15" "c.606-15C>G" "r.(=)" "p.(=)" "" "0001044099" "00024036" "30" "249" "1225" "249" "1225" "c.249+1225G>C" "r.(=)" "p.(=)" "" "0001046839" "00024036" "50" "328" "0" "328" "0" "c.328C>A" "r.(?)" "p.(Gln110Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003227" "0000000210" "0000009756" "0000037992" "0000065302" "0000037993" "0000065303" "0000037994" "0000065304" "0000037995" "0000065305" "0000037996" "0000065306" "0000275314" "0000629278" "0000286813" "0000642555" "0000286814" "0000642556" "0000286815" "0000642557" "0000286816" "0000642558" "0000286817" "0000642559" "0000286818" "0000642560" "0000286819" "0000642561" "0000286820" "0000642562" "0000286821" "0000642563" "0000286822" "0000642564" "0000286823" "0000642565" "0000286824" "0000642566" "0000286825" "0000642567" "0000286826" "0000642568" "0000286827" "0000642569" "0000286828" "0000642570" "0000286829" "0000642571" "0000286830" "0000642572" "0000286831" "0000642573" "0000286832" "0000642574" "0000286833" "0000642575" "0000286834" "0000642576" "0000286835" "0000642577" "0000286836" "0000642578" "0000286837" "0000642579" "0000286838" "0000642580" "0000286839" "0000642581" "0000316060" "0000698186" "0000456263" "0001008489" "0000456444" "0001010127"