### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A1) # 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}}" "SLC25A1" "solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1" "22" "q11" "unknown" "NC_000022.10" "UD_136021858819" "" "http://www.LOVD.nl/SLC25A1" "" "1" "10979" "6576" "190315" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SLC25A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "01815" "2017-03-24 13:48:49" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00019184" "SLC25A1" "transcript variant 1" "002" "NM_005984.3" "" "NP_005975.1" "" "" "" "-152" "1491" "936" "19166338" "19163088" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03847" "D2L2AD" "aciduria, combined d-2- and l-2-hydroxyglutaric (D2L2AD" "AR" "615182" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-08-05 11:53:54" "04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32" "05803" "CMS23" "myasthenic syndrome, congenital, type 23, presynaptic (CMS23)" "AR" "618197" "" "" "" "00006" "2020-08-05 11:55:28" "00006" "2020-08-05 11:55:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC25A1" "03847" "SLC25A1" "05803" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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}}" "00050438" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050514" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050542" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050613" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00307152" "" "" "" "2" "" "00006" "{PMID:Chaouch 2014:26870663}, {DOI:Chaouch 2014:10.3233/JND-140021}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam" "00307154" "" "" "" "1" "" "00006" "{PMID:Chaouch 2014:26870663}, {DOI:Chaouch 2014:10.3233/JND-140021}" "2-generation family, 1 affected, unaffected parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3" "00307155" "" "" "" "1" "" "00006" "{PMID:Edvardson 2013:23393310}, {DOI:Edvardson 2013:10.1136/jmedgenet-2012-101485}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Israel" "" "0" "" "" "Ashkenazi-Jewish" "patient" "00307156" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "Pat1" "00307157" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "Pat2" "00307158" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "Pat3" "00307159" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat4" "00307160" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat5" "00307161" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat6" "00307162" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "Pat7" "00307163" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "Pat8" "00307164" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat9" "00307165" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "Pat10" "00307166" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat11" "00307167" "" "" "" "1" "" "00006" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "Pat12" "00307168" "" "" "" "2" "" "00006" "{PMID:Prasun 2015:25614306}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "" "no" "United States" "" "0" "" "" "Hispanic" "Pat1" "00307169" "" "" "" "1" "" "00006" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat13" "00307170" "" "" "" "1" "" "00006" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat14" "00307171" "" "" "" "1" "" "00006" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat15" "00307172" "" "" "" "1" "" "00006" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat16" "00307173" "" "" "" "1" "" "00006" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat17" "00307174" "" "" "" "1" "" "00006" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat18" "00307175" "" "" "" "1" "" "00006" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat19" "00307176" "" "" "" "1" "" "00006" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat20" "00307177" "" "" "" "1" "" "00006" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "" "" "0" "" "" "" "Pat21" "00426157" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "18SS15100" "00467307" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH663" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00050438" "00198" "00050514" "00198" "00050542" "00198" "00050613" "00198" "00307152" "04312" "00307154" "04312" "00307155" "00198" "00307156" "00198" "00307157" "00198" "00307158" "00198" "00307159" "00198" "00307160" "00198" "00307161" "00198" "00307162" "00198" "00307163" "00198" "00307164" "00198" "00307165" "00198" "00307166" "00198" "00307167" "00198" "00307168" "00198" "00307169" "00198" "00307170" "00198" "00307171" "00198" "00307172" "00198" "00307173" "00198" "00307174" "00198" "00307175" "00198" "00307176" "00198" "00307177" "00198" "00426157" "00139" "00467307" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03847, 04312, 05803 ## Count = 31 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037050" "00198" "00050438" "00006" "Unknown" "" "sparse scalp hair, fragile nails, abnormality of limb bone morphology, alopecia of scalp, high palate, global developmental delay, global developmental delay, abnormality of the heart" "" "" "" "" "" "" "" "" "" "" "" "0000037126" "00198" "00050514" "00006" "Isolated (sporadic)" "" "agenesis of corpus callosum, periventricular gray matter heterotopia, seizures, frontal bossing, eczema" "" "" "" "" "" "" "" "" "" "" "" "0000037154" "00198" "00050542" "00006" "Isolated (sporadic)" "" "abnormality of the nervous system, dysphagia, abnormality of the palpebral fissures, inverted nipples, redundant skin, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037225" "00198" "00050613" "00006" "Isolated (sporadic)" "" "specific learning disability, congenital hypothyroidism, abnormality of metabolism/homeostasis, rhabdomyolysis, cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000232957" "04312" "00307152" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMS23" "congenital myasthenia syndrome" "" "0000232959" "04312" "00307154" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMS23" "congenital myasthenia syndrome" "" "0000232960" "00198" "00307155" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000232961" "00198" "00307156" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232962" "00198" "00307157" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232963" "00198" "00307158" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232964" "00198" "00307159" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232965" "00198" "00307160" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232966" "00198" "00307161" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232967" "00198" "00307162" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232968" "00198" "00307163" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232969" "00198" "00307164" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232970" "00198" "00307165" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232971" "00198" "00307166" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232972" "00198" "00307167" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232973" "00198" "00307168" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232974" "00198" "00307169" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232975" "00198" "00307170" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232976" "00198" "00307171" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232977" "00198" "00307172" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232978" "00198" "00307173" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232979" "00198" "00307174" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232980" "00198" "00307175" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232981" "00198" "00307176" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000232982" "00198" "00307177" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "D2L2AD" "" "" "0000317307" "00139" "00426157" "00006" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "" "Myasthenic syndrome, congenital, 23, presynaptic" "intellectual disability" "" "0000352514" "00198" "00467307" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "d-2- and l-2-OH glutaricaciduria" "" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050383" "00050438" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050459" "00050514" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050487" "00050542" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050558" "00050613" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000308294" "00307152" "1" "00006" "00006" "2020-08-05 12:03:14" "" "" "SEQ" "DNA" "" "" "0000308296" "00307154" "1" "00006" "00006" "2020-08-05 12:12:21" "" "" "SEQ" "DNA" "" "" "0000308297" "00307155" "1" "00006" "00006" "2020-08-05 12:21:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308298" "00307156" "1" "00006" "00006" "2020-08-05 12:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308299" "00307157" "1" "00006" "00006" "2020-08-05 12:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308300" "00307158" "1" "00006" "00006" "2020-08-05 12:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308301" "00307159" "1" "00006" "00006" "2020-08-05 12:45:09" "00006" "2020-08-05 12:46:51" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000308302" "00307160" "1" "00006" "00006" "2020-08-05 12:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308303" "00307161" "1" "00006" "00006" "2020-08-05 12:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308304" "00307162" "1" "00006" "00006" "2020-08-05 12:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308305" "00307163" "1" "00006" "00006" "2020-08-05 12:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308306" "00307164" "1" "00006" "00006" "2020-08-05 12:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308307" "00307165" "1" "00006" "00006" "2020-08-05 12:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308308" "00307166" "1" "00006" "00006" "2020-08-05 12:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308309" "00307167" "1" "00006" "00006" "2020-08-05 12:45:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308310" "00307168" "1" "00006" "00006" "2020-08-05 13:17:34" "" "" "SEQ" "DNA" "" "" "0000308311" "00307169" "1" "00006" "00006" "2020-08-05 13:36:24" "" "" "SEQ" "DNA" "" "" "0000308312" "00307170" "1" "00006" "00006" "2020-08-05 13:36:24" "" "" "SEQ" "DNA" "" "" "0000308313" "00307171" "1" "00006" "00006" "2020-08-05 13:36:24" "" "" "SEQ" "DNA" "" "" "0000308314" "00307172" "1" "00006" "00006" "2020-08-05 13:36:24" "" "" "SEQ" "DNA" "" "" "0000308315" "00307173" "1" "00006" "00006" "2020-08-05 13:36:24" "" "" "SEQ" "DNA" "" "" "0000308316" "00307174" "1" "00006" "00006" "2020-08-05 13:36:24" "" "" "SEQ" "DNA" "" "" "0000308317" "00307175" "1" "00006" "00006" "2020-08-05 13:36:24" "" "" "SEQ" "DNA" "" "" "0000308318" "00307176" "1" "00006" "00006" "2020-08-05 13:36:24" "" "" "SEQ" "DNA" "" "" "0000308319" "00307177" "1" "00006" "00006" "2020-08-05 13:36:24" "" "" "SEQ" "DNA" "" "" "0000427477" "00426157" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468970" "00467307" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000308294" "SLC25A1" "0000308296" "SLC25A1" "0000308297" "SLC25A1" "0000308298" "SLC25A1" "0000308299" "SLC25A1" "0000308300" "SLC25A1" "0000308301" "SLC25A1" "0000308302" "SLC25A1" "0000308303" "SLC25A1" "0000308304" "SLC25A1" "0000308305" "SLC25A1" "0000308306" "SLC25A1" "0000308307" "SLC25A1" "0000308308" "SLC25A1" "0000308309" "SLC25A1" "0000308310" "SLC25A1" "0000308311" "SLC25A1" "0000308312" "SLC25A1" "0000308313" "SLC25A1" "0000308314" "SLC25A1" "0000308315" "SLC25A1" "0000308316" "SLC25A1" "0000308317" "SLC25A1" "0000308318" "SLC25A1" "0000308319" "SLC25A1" ## 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 = 80 "{{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}}" "0000079363" "0" "90" "22" "18889039" "21464119" "del" "0" "00006" "ARVCF_000002" "g.18889039_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079439" "0" "90" "22" "18839287" "21830562" "dup" "0" "00006" "ARVCF_000005" "g.18839287_21830562dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079467" "0" "90" "22" "19023163" "21464119" "del" "0" "00006" "ARVCF_000004" "g.19023163_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079538" "0" "90" "22" "18893563" "21464119" "del" "0" "00006" "ARVCF_000003" "g.18893563_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000164229" "3" "90" "22" "19163735" "19163735" "subst" "0" "01815" "SLC25A1_000001" "g.19163735G>C" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "rs431905509" "0" "" "" "g.19176222G>C" "" "pathogenic (recessive)" "" "0000164230" "3" "90" "22" "19163735" "19163735" "subst" "1.62832E-5" "01815" "SLC25A1_000002" "g.19163735G>A" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176222G>A" "" "pathogenic (recessive)" "" "0000164231" "3" "90" "22" "19164412" "19164412" "subst" "4.06177E-6" "01815" "SLC25A1_000003" "g.19164412G>C" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176899G>C" "" "pathogenic (recessive)" "" "0000164236" "3" "90" "22" "19163934" "19163934" "subst" "0" "01815" "SLC25A1_000004" "g.19163934G>A" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176421G>A" "" "pathogenic (recessive)" "" "0000164237" "3" "90" "22" "19166177" "19166183" "dup" "0" "01815" "SLC25A1_000005" "g.19166177_19166183dup" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19178664_19178670dup" "" "pathogenic (recessive)" "" "0000164239" "2" "90" "22" "19164660" "19164660" "subst" "0" "01815" "SLC25A1_000006" "g.19164660C>T" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "compound heterozygous" "Germline" "" "" "0" "" "" "g.19177147C>T" "" "pathogenic (recessive)" "" "0000164240" "2" "90" "22" "19165714" "19165714" "subst" "0" "01815" "SLC25A1_000007" "g.19165714G>A" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19178201G>A" "" "pathogenic (recessive)" "" "0000164241" "11" "90" "22" "19163987" "19163987" "subst" "0" "01815" "SLC25A1_000008" "g.19163987G>C" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176474G>C" "" "pathogenic (recessive)" "" "0000164242" "3" "90" "22" "19165251" "19165251" "subst" "0" "01815" "SLC25A1_000009" "g.19165251C>G" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19177738C>G" "" "pathogenic (recessive)" "" "0000164256" "21" "90" "22" "19164385" "19164385" "subst" "0" "01815" "SLC25A1_000010" "g.19164385A>C" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176872A>C" "" "pathogenic (recessive)" "" "0000164257" "11" "90" "22" "19163689" "19163689" "subst" "0" "01815" "SLC25A1_000011" "g.19163689T>C" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176176T>C" "" "pathogenic (recessive)" "" "0000164258" "1" "90" "22" "19164634" "19164643" "del" "0" "01815" "SLC25A1_000012" "g.19164634_19164643del" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19177121_19177130del" "" "pathogenic (recessive)" "" "0000164259" "3" "90" "22" "19163971" "19163971" "subst" "0" "01815" "SLC25A1_000013" "g.19163971A>G" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176458A>G" "" "pathogenic (recessive)" "" "0000164260" "3" "90" "22" "19165709" "19165709" "subst" "0" "01815" "SLC25A1_000014" "g.19165709C>T" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19178196C>T" "" "pathogenic (recessive)" "" "0000164261" "3" "90" "22" "19165479" "19165479" "subst" "0" "01815" "SLC25A1_000015" "g.19165479C>T" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19177966C>T" "" "pathogenic (recessive)" "" "0000164262" "3" "90" "22" "19164397" "19164397" "subst" "0" "01815" "SLC25A1_000016" "g.19164397C>T" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176884C>T" "" "pathogenic (recessive)" "" "0000164263" "1" "90" "22" "19165729" "19165729" "subst" "0" "01815" "SLC25A1_000017" "g.19165729A>T" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19178216A>T" "" "pathogenic (recessive)" "" "0000164264" "2" "90" "22" "19164184" "19164191" "del" "0" "01815" "SLC25A1_000018" "g.19164184_19164191del" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176671_19176678del" "" "pathogenic (recessive)" "" "0000164266" "1" "90" "22" "19166105" "19166105" "subst" "0" "01815" "SLC25A1_000019" "g.19166105C>T" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19178592C>T" "" "pathogenic (recessive)" "" "0000164267" "2" "90" "22" "19163734" "19163734" "subst" "8.14067E-6" "01815" "SLC25A1_000020" "g.19163734C>T" "" "{PMID:Chaouch 2014:26870663}, {DOI:Chaouch 2014:10.3233/JND-140021}" "" "" "" "Germline" "" "" "0" "" "" "g.19176221C>T" "" "pathogenic (recessive)" "" "0000164268" "1" "90" "22" "19165292" "19165292" "subst" "4.15645E-5" "01815" "SLC25A1_000021" "g.19165292C>T" "" "{PMID:Chaouch 2014:26870663}, {DOI:Chaouch 2014:10.3233/JND-140021}" "" "" "" "Germline" "" "" "0" "" "" "g.19177779C>T" "" "pathogenic (recessive)" "" "0000164269" "3" "90" "22" "19164098" "19164098" "subst" "1.62526E-5" "01815" "SLC25A1_000022" "g.19164098C>T" "" "{PMID:Chaouch 2014:26870663}, {DOI:Chaouch 2014:10.3233/JND-140021}" "" "" "" "Germline" "" "" "0" "" "" "g.19176585C>T" "" "pathogenic (recessive)" "" "0000308301" "0" "50" "22" "19164702" "19164702" "subst" "0" "01943" "SLC25A1_000024" "g.19164702C>A" "" "" "" "SLC25A1(NM_005984.4):c.457G>T (p.D153Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19177189C>A" "" "VUS" "" "0000308302" "0" "30" "22" "19164209" "19164209" "subst" "0.000138153" "01943" "SLC25A1_000023" "g.19164209G>A" "" "" "" "SLC25A1(NM_005984.4):c.632-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19176696G>A" "" "likely benign" "" "0000571303" "0" "30" "22" "19163652" "19163652" "subst" "0.000146255" "01943" "CLTCL1_000005" "g.19163652C>T" "" "" "" "SLC25A1(NM_005984.4):c.927G>A (p.K309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19176139C>T" "" "likely benign" "" "0000571304" "0" "10" "22" "19165823" "19165823" "subst" "0.00376654" "01943" "CLTCL1_000006" "g.19165823C>G" "" "" "" "SLC25A1(NM_001256534.1):c.46G>C (p.G16R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19178310C>G" "" "benign" "" "0000571307" "0" "30" "22" "19171098" "19171098" "subst" "7.32917E-5" "01943" "CLTCL1_000009" "g.19171098C>T" "" "" "" "CLTCL1(NM_007098.3):c.4632G>A (p.S1544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19183585C>T" "" "likely benign" "" "0000618454" "0" "50" "22" "19165333" "19165333" "dup" "0" "01804" "CLTCL1_000013" "g.19165333dup" "" "" "" "SLC25A1(NM_001256534.1):c.371dup (p.(Arg125ThrfsTer52))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19177820dup" "" "VUS" "" "0000675245" "1" "90" "22" "19165292" "19165292" "subst" "4.15645E-5" "00006" "SLC25A1_000021" "g.19165292C>T" "" "{PMID:Edvardson 2013:23393310}, {DOI:Edvardson 2013:10.1136/jmedgenet-2012-101485}" "" "" "" "Germline" "" "" "0" "" "" "g.19177779C>T" "" "pathogenic (recessive)" "" "0000675246" "2" "90" "22" "19163734" "19163734" "subst" "8.14067E-6" "00006" "SLC25A1_000020" "g.19163734C>T" "" "{PMID:Edvardson 2013:23393310}, {DOI:Edvardson 2013:10.1136/jmedgenet-2012-101485}" "" "" "" "Germline" "" "" "0" "" "" "g.19176221C>T" "" "pathogenic (recessive)" "" "0000675247" "1" "90" "22" "19166163" "19166169" "dup" "0" "00006" "SLC25A1_000005" "g.19166163_19166169dup" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19178650_19178656dup" "" "pathogenic (recessive)" "" "0000675248" "1" "90" "22" "19166163" "19166169" "dup" "0" "00006" "SLC25A1_000005" "g.19166163_19166169dup" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19178650_19178656dup" "" "pathogenic (recessive)" "" "0000675249" "1" "90" "22" "19166163" "19166169" "dup" "0" "00006" "SLC25A1_000005" "g.19166163_19166169dup" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19178650_19178656dup" "" "pathogenic (recessive)" "" "0000675250" "1" "90" "22" "19164385" "19164385" "subst" "4.06144E-6" "00006" "SLC25A1_000025" "g.19164385A>G" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176872A>G" "" "pathogenic (recessive)" "" "0000675251" "2" "90" "22" "19163934" "19163934" "subst" "0" "00006" "SLC25A1_000004" "g.19163934G>A" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176421G>A" "" "pathogenic (recessive)" "" "0000675252" "3" "90" "22" "19163934" "19163934" "subst" "0" "00006" "SLC25A1_000004" "g.19163934G>A" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176421G>A" "" "pathogenic (recessive)" "" "0000675253" "1" "90" "22" "19166163" "19166169" "dup" "0" "00006" "SLC25A1_000005" "g.19166163_19166169dup" "" "{PMID:Prasun 2015:25614306}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19178650_19178656dup" "" "pathogenic (recessive)" "" "0000675254" "2" "90" "22" "19165714" "19165714" "subst" "0" "00006" "SLC25A1_000007" "g.19165714G>A" "" "{PMID:Prasun 2015:25614306}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19178201G>A" "" "pathogenic (recessive)" "" "0000675255" "2" "90" "22" "19164412" "19164412" "subst" "4.06177E-6" "00006" "SLC25A1_000003" "g.19164412G>C" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176899G>C" "" "pathogenic (recessive)" "" "0000675256" "2" "90" "22" "19163735" "19163735" "subst" "1.62832E-5" "00006" "SLC25A1_000002" "g.19163735G>A" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19176222G>A" "" "pathogenic (recessive)" "" "0000675257" "3" "90" "22" "19166163" "19166169" "dup" "0" "00006" "SLC25A1_000005" "g.19166163_19166169dup" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19178650_19178656dup" "" "pathogenic (recessive)" "" "0000675259" "3" "90" "22" "19164633" "19164642" "del" "2.4372E-5" "00006" "SLC25A1_000012" "g.19164633_19164642del" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "" "Germline" "" "" "0" "" "" "g.19177120_19177129del" "" "pathogenic (recessive)" "" "0000675260" "0" "99" "22" "19164397" "19164397" "subst" "0" "03070" "SLC25A1_000036" "g.19164397C>T" "" "{DOI:Smith 2016:10.1007/8904_2016_536}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%)" "In vitro (cloned)" "" "" "0" "" "" "g.19176884C>T" "" "NA" "" "0000675261" "0" "77" "22" "19166105" "19166105" "subst" "0" "03070" "SLC25A1_000026" "g.19166105C>T" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article" "In vitro (cloned)" "" "" "0" "" "" "g.19178592C>T" "" "NA" "" "0000675262" "0" "77" "22" "19165729" "19165729" "subst" "0" "03070" "SLC25A1_000027" "g.19165729A>T" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article" "In vitro (cloned)" "" "" "0" "" "" "g.19178216A>T" "" "NA" "" "0000675263" "0" "77" "22" "19163971" "19163971" "subst" "0" "03070" "SLC25A1_000041" "g.19163971A>G" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article" "In vitro (cloned)" "" "" "0" "" "" "g.19176458A>G" "" "NA" "" "0000675264" "0" "99" "22" "19165709" "19165709" "subst" "0" "03070" "SLC25A1_000029" "g.19165709C>T" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%)" "In vitro (cloned)" "" "" "0" "" "" "g.19178196C>T" "" "NA" "" "0000675265" "0" "99" "22" "19165479" "19165479" "subst" "0" "03070" "SLC25A1_000030" "g.19165479C>T" "" "{PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%)" "In vitro (cloned)" "" "" "0" "" "" "g.19177966C>T" "" "NA" "" "0000675266" "0" "77" "22" "19164660" "19164660" "subst" "0" "03070" "SLC25A1_000033" "g.19164660C>T" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article" "In vitro (cloned)" "" "" "0" "" "" "g.19177147C>T" "" "NA" "" "0000675267" "0" "77" "22" "19164412" "19164412" "subst" "4.06177E-6" "03070" "SLC25A1_000035" "g.19164412G>C" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article" "In vitro (cloned)" "" "" "0" "" "" "g.19176899G>C" "" "NA" "" "0000675268" "0" "77" "22" "19164385" "19164385" "subst" "4.06144E-6" "03070" "SLC25A1_000037" "g.19164385A>G" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article" "In vitro (cloned)" "" "" "0" "" "" "g.19176872A>G" "" "NA" "" "0000675269" "0" "77" "22" "19163689" "19163689" "subst" "0" "03070" "SLC25A1_000046" "g.19163689T>C" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article" "In vitro (cloned)" "" "" "0" "" "" "g.19176176T>C" "" "NA" "" "0000675270" "0" "99" "22" "19165251" "19165251" "subst" "0" "03070" "SLC25A1_000032" "g.19165251C>G" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%)" "In vitro (cloned)" "" "" "0" "" "" "g.19177738C>G" "" "NA" "" "0000675271" "0" "99" "22" "19163987" "19163987" "subst" "0" "03070" "SLC25A1_000040" "g.19163987G>C" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%)" "In vitro (cloned)" "" "" "0" "" "" "g.19176474G>C" "" "NA" "" "0000675272" "0" "99" "22" "19163735" "19163735" "subst" "0" "03070" "SLC25A1_000043" "g.19163735G>C" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%)" "In vitro (cloned)" "" "" "0" "" "" "g.19176222G>C" "" "NA" "" "0000675273" "0" "99" "22" "19163735" "19163735" "subst" "1.62832E-5" "03070" "SLC25A1_000044" "g.19163735G>A" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%)" "In vitro (cloned)" "" "" "0" "" "" "g.19176222G>A" "" "NA" "" "0000675274" "0" "99" "22" "19165714" "19165714" "subst" "0" "03070" "SLC25A1_000028" "g.19165714G>A" "" "{PMID:Nota 2013:23561848}, {DOI:Nota 2013:10.1016/j.ajhg.2013.03.009}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%)" "In vitro (cloned)" "" "" "0" "" "" "g.19178201G>A" "" "NA" "" "0000675275" "0" "77" "22" "19164098" "19164098" "subst" "1.62526E-5" "03070" "SLC25A1_000039" "g.19164098C>T" "" "{PMID:Chaouch 2014:26870663}, {DOI:Chaouch 2014:10.3233/JND-140021}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed reduced CIC activity: see discussion in article" "In vitro (cloned)" "" "" "0" "" "" "g.19176585C>T" "" "NA" "" "0000675276" "0" "99" "22" "19165292" "19165292" "subst" "4.15645E-5" "03070" "SLC25A1_000031" "g.19165292C>T" "" "{PMID:Edvardson 2013:23393310}, {DOI:Edvardson 2013:10.1136/jmedgenet-2012-101485}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%)" "In vitro (cloned)" "" "" "0" "" "" "g.19177779C>T" "" "NA" "" "0000675277" "0" "99" "22" "19163734" "19163734" "subst" "8.14067E-6" "03070" "SLC25A1_000045" "g.19163734C>T" "" "{PMID:Edvardson 2013:23393310}, {DOI:Edvardson 2013:10.1136/jmedgenet-2012-101485}, {PMID:Pop 2018:29238895}, {DOI:Pop 2018:10.1007/s10545-017-0106-7}" "" "" "overexpression in deficient fibroblasts showed severely impaired CIC activity (below 25%)" "In vitro (cloned)" "" "" "0" "" "" "g.19176221C>T" "" "NA" "" "0000693104" "0" "30" "22" "19163685" "19163685" "subst" "0.00357871" "01943" "CLTCL1_000014" "g.19163685A>G" "" "" "" "SLC25A1(NM_005984.4):c.894T>C (p.D298=), SLC25A1(NM_005984.5):c.894T>C (p.D298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728031" "0" "90" "22" "19164634" "19164643" "del" "0" "02325" "SLC25A1_000012" "g.19164634_19164643del" "" "" "" "SLC25A1(NM_005984.5):c.517_526delCGGGAACAAG (p.R173Gfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866720" "0" "10" "22" "19163685" "19163685" "subst" "0.00357871" "02326" "CLTCL1_000014" "g.19163685A>G" "" "" "" "SLC25A1(NM_005984.4):c.894T>C (p.D298=), SLC25A1(NM_005984.5):c.894T>C (p.D298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000904837" "3" "70" "22" "19165552" "19165552" "subst" "0" "00006" "SLC25A1_000047" "g.19165552C>A" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.19178039C>A" "VCV000988807.1" "VUS" "" "0000984091" "0" "50" "22" "19164451" "19164451" "subst" "5.69041E-5" "01804" "CLTCL1_000015" "g.19164451G>A" "" "" "" "SLC25A1(NM_005984.5):c.539C>T (p.(Thr180Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043698" "0" "50" "22" "19164101" "19164101" "subst" "0" "01804" "CLTCL1_000019" "g.19164101G>T" "" "" "" "SLC25A1(NM_005984.5):c.737C>A (p.(Thr246Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043699" "0" "50" "22" "19165658" "19165658" "subst" "0" "01804" "CLTCL1_000020" "g.19165658A>C" "" "" "" "SLC25A1(NM_005984.5):c.190T>G (p.(Tyr64Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043700" "0" "30" "22" "19165855" "19165855" "subst" "0.0226691" "01804" "CLTCL1_000021" "g.19165855G>A" "" "" "" "SLC25A1(NM_001256534.2):c.14C>T (p.(Ala5Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043701" "0" "50" "22" "19166129" "19166129" "subst" "0" "01804" "CLTCL1_000022" "g.19166129C>T" "" "" "" "SLC25A1(NM_005984.5):c.58G>A (p.(Ala20Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043702" "0" "50" "22" "19166138" "19166138" "subst" "0" "01804" "CLTCL1_000023" "g.19166138A>G" "" "" "" "SLC25A1(NM_005984.5):c.49T>C (p.(Ser17Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043703" "0" "50" "22" "19168297" "19168298" "del" "0" "01804" "CLTCL1_000024" "g.19168297_19168298del" "" "" "" "CLTCL1(NM_007098.4):c.4852_4853del (p.(Leu1619Alafs*16))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043704" "0" "30" "22" "19171076" "19171076" "dup" "0" "01804" "CLTCL1_000025" "g.19171076dup" "" "" "" "CLTCL1(NM_007098.4):c.4655dup (p.(Leu1553Valfs*23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049064" "1" "90" "22" "19164412" "19164412" "subst" "4.06177E-6" "00006" "SLC25A1_000003" "g.19164412G>C" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.578C>G" "" "Germline" "" "" "0" "" "" "g.19176899G>C" "" "pathogenic (recessive)" "" "0001049076" "2" "90" "22" "19166105" "19166105" "subst" "0" "00006" "SLC25A1_000019" "g.19166105C>T" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.82G>A" "" "Germline" "" "" "0" "" "" "g.19178592C>T" "" "pathogenic (recessive)" "" "0001057064" "0" "50" "22" "19165546" "19165546" "subst" "0" "01804" "CLTCL1_000030" "g.19165546C>A" "" "" "" "SLC25A1(NM_005984.5):c.211G>T (p.(Val71Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057065" "0" "50" "22" "19165805" "19165805" "subst" "0" "01804" "CLTCL1_000031" "g.19165805C>T" "" "" "" "SLC25A1(NM_001256534.2):c.64G>A (p.(Glu22Lys))" "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 SLC25A1 ## Count = 80 "{{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}}" "0000079363" "00019184" "00" "-2297933" "0" "275540" "0" "c.-2297933_*274604del" "r.0?" "p.0?" "" "0000079439" "00019184" "00" "-2664376" "0" "325292" "0" "c.-2664376_*324356dup" "r.?" "p.?" "" "0000079467" "00019184" "00" "-2297933" "0" "141416" "0" "c.-2297933_*140480del" "r.0?" "p.0?" "" "0000079538" "00019184" "00" "-2297933" "0" "271016" "0" "c.-2297933_*270080del" "r.0?" "p.0?" "" "0000164229" "00019184" "90" "844" "0" "844" "0" "c.844C>G" "r.(?)" "p.(Arg282Gly)" "09" "0000164230" "00019184" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "9" "0000164231" "00019184" "90" "578" "0" "578" "0" "c.578C>G" "r.(?)" "p.(Ser193Trp)" "6" "0000164236" "00019184" "90" "821" "0" "821" "0" "c.821C>T" "r.820_821del" "p.Ala274Ilefs*24" "8" "0000164237" "00019184" "90" "18" "0" "24" "0" "c.18_24dup" "r.(?)" "p.(Ala9Profs*82)" "1" "0000164239" "00019184" "90" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Arg)" "5" "0000164240" "00019184" "90" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Pro45Leu)" "2" "0000164241" "00019184" "90" "768" "0" "768" "0" "c.768C>G" "r.(?)" "p.(Tyr256*)" "8" "0000164242" "00019184" "90" "430" "0" "430" "0" "c.430G>C" "r.(?)" "p.(Glu144Gln)" "4" "0000164256" "00019184" "90" "605" "0" "605" "0" "c.605T>G" "r.(?)" "p.(Met202Arg)" "6" "0000164257" "00019184" "90" "890" "0" "890" "0" "c.890A>G" "r.(?)" "p.(Tyr297Cys)" "9" "0000164258" "00019184" "90" "517" "0" "526" "0" "c.517_526del" "r.(?)" "p.(Arg173Glyfs*2)" "5" "0000164259" "00019184" "90" "784" "0" "784" "0" "c.784T>C" "r.(?)" "p.(Cys262Arg)" "8" "0000164260" "00019184" "90" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Glu47Lys)" "2" "0000164261" "00019184" "90" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Gly93Asp)" "3" "0000164262" "00019184" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "6" "0000164263" "00019184" "90" "119" "0" "119" "0" "c.119T>A" "r.(?)" "p.(Ile40Asn)" "2" "0000164264" "00019184" "90" "648" "0" "655" "0" "c.648_655del" "r.(?)" "p.(Met218Serfs*25)" "7" "0000164266" "00019184" "90" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Ala28Thr)" "1" "0000164267" "00019184" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282His)" "9" "0000164268" "00019184" "90" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Gly130Asp)" "4" "0000164269" "00019184" "90" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "7" "0000308301" "00019184" "50" "457" "0" "457" "0" "c.457G>T" "r.(?)" "p.(Asp153Tyr)" "" "0000308302" "00019184" "30" "632" "-3" "632" "-3" "c.632-3C>T" "r.spl?" "p.?" "" "0000571303" "00019184" "30" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.(Lys309=)" "" "0000571304" "00019184" "10" "95" "-70" "95" "-70" "c.95-70G>C" "r.(=)" "p.(=)" "" "0000571307" "00019184" "30" "-4912" "0" "-4912" "0" "c.-4912G>A" "r.(?)" "p.(=)" "" "0000618454" "00019184" "50" "350" "0" "350" "0" "c.350dup" "r.(?)" "p.(Arg118ThrfsTer52)" "" "0000675245" "00019184" "90" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Gly130Asp)" "" "0000675246" "00019184" "90" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Arg282His)" "" "0000675247" "00019184" "90" "18" "0" "24" "0" "c.18_24dup" "r.(?)" "p.(Ala9Profs*82)" "" "0000675248" "00019184" "90" "18" "0" "24" "0" "c.18_24dup" "r.(?)" "p.(Ala9Profs*82)" "" "0000675249" "00019184" "90" "18" "0" "24" "0" "c.18_24dup" "r.(?)" "p.(Ala9Profs*82)" "" "0000675250" "00019184" "90" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Met202Thr)" "" "0000675251" "00019184" "90" "821" "0" "821" "0" "c.821C>T" "r.820_821del" "p.Ala274Ilefs*24" "" "0000675252" "00019184" "90" "821" "0" "821" "0" "c.821C>T" "r.820_821del" "p.Ala274Ilefs*24" "" "0000675253" "00019184" "90" "18" "0" "24" "0" "c.18_24dup" "r.(?)" "p.(Ala9Profs*82)" "" "0000675254" "00019184" "90" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.(Pro45Leu)" "" "0000675255" "00019184" "90" "578" "0" "578" "0" "c.578C>G" "r.(?)" "p.(Ser193Trp)" "" "0000675256" "00019184" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Cys)" "" "0000675257" "00019184" "90" "18" "0" "24" "0" "c.18_24dup" "r.(?)" "p.(Ala9Profs*82)" "" "0000675259" "00019184" "90" "517" "0" "526" "0" "c.517_526del" "r.(?)" "p.(Arg173Glyfs*2)" "" "0000675260" "00019184" "99" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.Arg198His" "6" "0000675261" "00019184" "77" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.Ala28Thr" "1" "0000675262" "00019184" "77" "119" "0" "119" "0" "c.119T>A" "r.(?)" "p.Ile40Asn" "2" "0000675263" "00019184" "77" "784" "0" "784" "0" "c.784T>C" "r.(?)" "p.Cys262Arg" "8" "0000675264" "00019184" "99" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.Glu47Lys" "2" "0000675265" "00019184" "99" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.Gly93Asp" "3" "0000675266" "00019184" "77" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.Gly167Arg" "5" "0000675267" "00019184" "77" "578" "0" "578" "0" "c.578C>G" "r.(?)" "p.Ser193Trp" "6" "0000675268" "00019184" "77" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.Met202Thr" "6" "0000675269" "00019184" "77" "890" "0" "890" "0" "c.890A>G" "r.(?)" "p.Tyr297Cys" "9" "0000675270" "00019184" "99" "430" "0" "430" "0" "c.430G>C" "r.(?)" "p.Glu144Gln" "4" "0000675271" "00019184" "99" "768" "0" "768" "0" "c.768C>G" "r.(?)" "p.Tyr256*" "8" "0000675272" "00019184" "99" "844" "0" "844" "0" "c.844C>G" "r.(?)" "p.Arg282Gly" "9" "0000675273" "00019184" "99" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.Arg282Cys" "9" "0000675274" "00019184" "99" "134" "0" "134" "0" "c.134C>T" "r.(?)" "p.Pro45Leu" "2" "0000675275" "00019184" "77" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.Arg247Gln" "7" "0000675276" "00019184" "99" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.Gly130Asp" "4" "0000675277" "00019184" "99" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.Arg282His" "9" "0000693104" "00019184" "30" "894" "0" "894" "0" "c.894T>C" "r.(?)" "p.(Asp298=)" "" "0000728031" "00019184" "90" "517" "0" "526" "0" "c.517_526del" "r.(?)" "p.(Arg173Glyfs*2)" "" "0000866720" "00019184" "10" "894" "0" "894" "0" "c.894T>C" "r.(?)" "p.(Asp298=)" "" "0000904837" "00019184" "70" "205" "0" "205" "0" "c.205G>T" "r.(?)" "p.(Asp69Tyr)" "" "0000984091" "00019184" "50" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Thr180Met)" "" "0001043698" "00019184" "50" "737" "0" "737" "0" "c.737C>A" "r.(?)" "p.(Thr246Asn)" "" "0001043699" "00019184" "50" "190" "0" "190" "0" "c.190T>G" "r.(?)" "p.(Tyr64Asp)" "" "0001043700" "00019184" "30" "95" "-102" "95" "-102" "c.95-102C>T" "r.(=)" "p.(=)" "" "0001043701" "00019184" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Ala20Thr)" "" "0001043702" "00019184" "50" "49" "0" "49" "0" "c.49T>C" "r.(?)" "p.(Ser17Pro)" "" "0001043703" "00019184" "50" "-2109" "0" "-2108" "0" "c.-2109_-2108del" "r.(?)" "p.(=)" "" "0001043704" "00019184" "30" "-4889" "0" "-4889" "0" "c.-4889dup" "r.(?)" "p.(=)" "" "0001049064" "00019184" "90" "578" "0" "578" "0" "c.578C>G" "r.(?)" "p.(Ser193Trp)" "" "0001049076" "00019184" "90" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Ala28Thr)" "" "0001057064" "00019184" "50" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Leu)" "" "0001057065" "00019184" "50" "95" "-52" "95" "-52" "c.95-52G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{variantid}}" "0000050383" "0000079363" "0000050459" "0000079439" "0000050487" "0000079467" "0000050558" "0000079538" "0000308294" "0000164269" "0000308296" "0000164267" "0000308296" "0000164268" "0000308297" "0000675245" "0000308297" "0000675246" "0000308298" "0000164231" "0000308299" "0000164229" "0000308300" "0000164230" "0000308301" "0000164236" "0000308302" "0000164239" "0000308302" "0000675247" "0000308303" "0000164240" "0000308303" "0000675248" "0000308304" "0000164241" "0000308304" "0000675249" "0000308305" "0000164242" "0000308306" "0000164237" "0000308307" "0000164257" "0000308307" "0000675250" "0000308308" "0000675252" "0000308309" "0000164258" "0000308309" "0000675251" "0000308310" "0000675253" "0000308310" "0000675254" "0000308311" "0000675257" "0000308312" "0000675259" "0000308313" "0000164259" "0000308314" "0000164260" "0000308315" "0000164261" "0000308316" "0000164262" "0000308317" "0000164263" "0000308317" "0000164264" "0000308318" "0000164266" "0000308318" "0000675255" "0000308319" "0000164256" "0000308319" "0000675256" "0000427477" "0000904837" "0000468970" "0001049064" "0000468970" "0001049076"