### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC25A24) # 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}}" "SLC25A24" "solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24" "1" "p13.2" "unknown" "NG_032752.1" "UD_134712967590" "" "https://www.LOVD.nl/SLC25A24" "" "1" "20662" "29957" "608744" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/SLC25A24_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-05-16 00:00:00" "00006" "2017-11-06 16:18:26" "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}}" "00025239" "SLC25A24" "transcript variant 2" "002" "NM_213651.2" "" "NP_998816.1" "" "" "" "-188" "3308" "1377" "108735431" "108677344" "00006" "2017-11-06 16:09:34" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05996" "FPS" "Fontaine progeroid syndrome" "AD" "612289" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC25A24" "05996" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00147047" "" "" "" "1" "" "00006" "{PMID:Writzl 2017:29100094}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Slovenia" "" "0" "" "" "" "29100094-Pat1" "00147048" "" "" "" "1" "" "00006" "{PMID:Writzl 2017:29100094}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "29100094-Pat2" "00147049" "" "" "" "1" "" "00006" "{PMID:Writzl 2017:29100094}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Spain" "" "0" "" "" "" "29100094-Pat3" "00147050" "" "" "" "1" "" "00006" "{PMID:Writzl 2017:29100094}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "29100094-Pat4" "00147051" "" "" "" "1" "" "00006" "{PMID:Ehmke 2017:29100093}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Poland" "" "0" "" "" "" "29100093-Pat1" "00147052" "" "" "" "1" "" "00006" "{PMID:Ehmke 2017:29100093}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Hungary" "" "0" "" "" "" "29100093-Pat2" "00147053" "" "" "" "1" "" "00006" "{PMID:Ehmke 2017:29100093}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Germany" "" "0" "" "" "" "29100093-Pat3" "00147054" "" "" "" "1" "" "00006" "{PMID:Ehmke 2017:29100093}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Turkey" "" "0" "" "" "" "29100093-Pat4" "00147055" "" "" "" "1" "" "00006" "{PMID:Ehmke 2017:29100093}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "Europe, north" "29100093-Pat5" "00227835" "" "" "" "7" "" "00000" "" "4-generation family, 7 affecteds, unaffected heterozygous family members" "M" "yes" "Palestine" ">26y" "0" "" "" "" "" "00374120" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "F" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00147047" "00198" "00147048" "00198" "00147049" "00198" "00147050" "00198" "00147051" "00198" "00147052" "00198" "00147053" "00198" "00147054" "00198" "00147055" "00198" "00227835" "05400" "00374120" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05400, 05996 ## Count = 11 "{{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}}" "0000119764" "00198" "00147047" "00006" "Isolated (sporadic)" "" "early aging, bone dysplasia, characteristic face, early demise" "" "" "" "" "" "" "" "" "" "" "" "0000119765" "00198" "00147048" "00006" "Isolated (sporadic)" "" "early aging, bone dysplasia, characteristic face, early demise" "" "" "" "" "" "" "" "" "" "" "" "0000119766" "00198" "00147049" "00006" "Isolated (sporadic)" "" "early aging, bone dysplasia, characteristic face, early demise" "" "" "" "" "" "" "" "" "" "" "" "0000119767" "00198" "00147050" "00006" "Isolated (sporadic)" "" "early aging, bone dysplasia, characteristic face, early demise" "" "" "" "" "" "" "" "" "" "" "" "0000119768" "00198" "00147051" "00006" "Isolated (sporadic)" "" "hypertrichosis, progeroid appearance, mitochondrial dysfunction" "" "" "" "" "" "" "" "" "" "Wiedemann-Rautenstrauch syndrome" "" "0000119769" "00198" "00147052" "00006" "Isolated (sporadic)" "" "hypertrichosis, progeroid appearance, mitochondrial dysfunction" "" "" "" "" "" "" "" "" "" "Wiedemann-Rautenstrauch syndrome" "" "0000119770" "00198" "00147053" "00006" "Isolated (sporadic)" "" "hypertrichosis, progeroid appearance, mitochondrial dysfunction" "" "" "" "" "" "" "" "" "" "Gorlin-Chaudhry-Moss syndrome (GCMS)" "" "0000119771" "00198" "00147054" "00006" "Isolated (sporadic)" "" "hypertrichosis, progeroid appearance, mitochondrial dysfunction" "" "" "" "" "" "" "" "" "" "Gorlin-Chaudhry-Moss syndrome (GCMS)" "" "0000119772" "00198" "00147055" "00006" "Isolated (sporadic)" "" "hypertrichosis, progeroid appearance, mitochondrial dysfunction" "" "" "" "" "" "" "" "" "" "Gorlin-Chaudhry-Moss syndrome (GCMS)" "" "0000171841" "05400" "00227835" "00000" "Familial, autosomal recessive" "" "severe/profound hearing loss; no hearing aid; no motor delay; no communicative delay; no cognitive impairment; no ventriculomegaly; corpus callosum short and thin; heterotopia moderate; frontal polymicrogyria moderate; cerebellar dysplasia; moderate interhemispheric cyst" "" "" "" "" "" "" "" "" "" "deafness, autosomal recessive, type 82 (DFNB-82)" "" "0000269331" "00198" "00374120" "00006" "Isolated (sporadic)" "<0d" "20w-fetus, ultrasound small for gestational age, cardiopathy, syndactyly; autopsy intrauterine growth retardation, hydramnios, microcrania, retrognathia, vermian hypoplasia, auricular external canal atresia, broad hands, syndactyly, interauricular communication" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000147903" "00147047" "1" "00006" "00006" "2017-12-29 19:05:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147904" "00147048" "1" "00006" "00006" "2017-12-29 19:05:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147905" "00147049" "1" "00006" "00006" "2017-12-29 19:05:47" "" "" "SEQ" "DNA" "" "" "0000147906" "00147050" "1" "00006" "00006" "2017-12-29 19:05:47" "" "" "SEQ" "DNA" "" "" "0000147907" "00147051" "1" "00006" "00006" "2017-12-29 19:05:47" "" "" "SEQ" "DNA" "" "" "0000147908" "00147052" "1" "00006" "00006" "2017-12-29 19:05:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147909" "00147053" "1" "00006" "00006" "2017-12-29 19:05:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147910" "00147054" "1" "00006" "00006" "2017-12-29 19:05:47" "" "" "SEQ" "DNA" "" "" "0000147911" "00147055" "1" "00006" "00006" "2017-12-29 19:05:47" "" "" "SEQ" "DNA" "" "" "0000228924" "00227835" "1" "00000" "00115" "2010-08-16 11:43:49" "00008" "2019-03-12 17:52:18" "SEQ" "DNA" "" "" "0000375313" "00374120" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000147903" "SLC25A24" "0000147904" "SLC25A24" "0000147905" "SLC25A24" "0000147906" "SLC25A24" "0000147907" "SLC25A24" "0000147908" "SLC25A24" "0000147909" "SLC25A24" "0000147910" "SLC25A24" "0000147911" "SLC25A24" "0000228924" "AKNAD1" "0000228924" "GPR61" "0000228924" "GPSM2" "0000228924" "KIAA1324" "0000228924" "MYBPHL" "0000228924" "SLC25A24" "0000375313" "SLC25A24" ## 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 = 40 "{{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}}" "0000241163" "0" "90" "1" "108700103" "108700103" "subst" "0" "00006" "SLC25A24_000002" "g.108700103C>T" "" "{PMID:Writzl 2017:29100094}" "" "NM_013386:c.650G>A" "" "De novo" "" "" "0" "" "" "g.108157481C>T" "" "pathogenic" "" "0000241164" "0" "90" "1" "108700103" "108700103" "subst" "0" "00006" "SLC25A24_000002" "g.108700103C>T" "" "{PMID:Writzl 2017:29100094}" "" "NM_013386:c.650G>A" "" "De novo" "" "" "0" "" "" "g.108157481C>T" "" "pathogenic" "" "0000241165" "0" "90" "1" "108700104" "108700104" "subst" "0" "00006" "SLC25A24_000003" "g.108700104G>A" "" "{PMID:Writzl 2017:29100094}" "" "NM_013386:c.649G>T" "" "De novo" "" "" "0" "" "" "g.108157482G>A" "" "pathogenic" "" "0000241166" "0" "90" "1" "108700103" "108700103" "subst" "0" "00006" "SLC25A24_000002" "g.108700103C>T" "" "{PMID:Writzl 2017:29100094}" "" "NM_013386:c.650G>A" "" "De novo" "" "" "0" "" "" "g.108157481C>T" "" "pathogenic" "" "0000241167" "0" "90" "1" "108700103" "108700103" "subst" "0" "00006" "SLC25A24_000002" "g.108700103C>T" "" "{PMID:Ehmke 2017:29100093}" "" "NM_013386:c.650G>A" "" "De novo" "" "" "0" "" "" "g.108157481C>T" "" "pathogenic" "" "0000241168" "0" "90" "1" "108700103" "108700103" "subst" "0" "00006" "SLC25A24_000002" "g.108700103C>T" "" "{PMID:Ehmke 2017:29100093}" "" "NM_013386:c.650G>A" "" "De novo" "" "" "0" "" "" "g.108157481C>T" "" "pathogenic" "" "0000241169" "0" "90" "1" "108700103" "108700103" "subst" "0" "00006" "SLC25A24_000002" "g.108700103C>T" "" "{PMID:Ehmke 2017:29100093}" "" "NM_013386:c.650G>A" "" "De novo" "" "" "0" "" "" "g.108157481C>T" "" "pathogenic" "" "0000241170" "0" "90" "1" "108700103" "108700103" "subst" "0" "00006" "SLC25A24_000002" "g.108700103C>T" "" "{PMID:Ehmke 2017:29100093}" "" "NM_013386:c.650G>A" "" "De novo" "" "" "0" "" "" "g.108157481C>T" "" "pathogenic" "" "0000241171" "0" "90" "1" "108700104" "108700104" "subst" "0" "00006" "SLC25A24_000003" "g.108700104G>A" "" "{PMID:Ehmke 2017:29100093}" "" "NM_013386:c.649C>T" "" "De novo" "" "" "0" "" "" "g.108157482G>A" "" "pathogenic" "" "0000469187" "3" "35" "1" "108735196" "108735196" "subst" "0.000648508" "00000" "SLC25A24_000001" "g.108735196C>T" "" "{PMID:Walsh 2010:20602914}" "" "chr1.hg19:g.108,735,196C>T (K17K)" "not in dbSNP or 6 control chromosomes; note protein should have been reported as K16K and gene as SLC25A24 (not SLC25A25)" "Germline" "" "" "0" "" "" "g.108192574C>T" "" "likely benign" "" "0000502379" "0" "30" "1" "108703824" "108703824" "subst" "0.000262838" "01804" "SLC25A24_000005" "g.108703824G>A" "" "" "" "SLC25A24(NM_013386.5):c.490C>T (p.(Arg164Cys), p.R164C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108161202G>A" "" "likely benign" "" "0000502380" "0" "30" "1" "108735203" "108735203" "subst" "0.000135155" "01943" "SLC25A24_000006" "g.108735203T>C" "" "" "" "SLC25A24(NM_213651.2):c.41A>G (p.Y14C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108192581T>C" "" "likely benign" "" "0000604633" "0" "50" "1" "108697681" "108697681" "subst" "4.07977E-6" "02327" "SLC25A24_000008" "g.108697681G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108155059G>C" "" "VUS" "" "0000604634" "0" "30" "1" "108700245" "108700245" "subst" "7.84301E-5" "02325" "SLC25A24_000009" "g.108700245G>A" "" "" "" "SLC25A24(NM_013386.5):c.511-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108157623G>A" "" "likely benign" "" "0000653576" "0" "90" "1" "108700103" "108700103" "subst" "0" "01804" "SLC25A24_000002" "g.108700103C>T" "" "" "" "SLC25A24(NM_013386.4):c.650G>A (p.(Arg217His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108157481C>T" "" "pathogenic" "" "0000687798" "0" "50" "1" "108679315" "108679315" "subst" "4.88059E-5" "01943" "SLC25A24_000010" "g.108679315T>C" "" "" "" "SLC25A24(NM_013386.5):c.1394A>G (p.Y465C, p.(Tyr465Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716654" "0" "50" "1" "108724620" "108724620" "subst" "0" "02325" "SLC25A24_000011" "g.108724620G>C" "" "" "" "SLC25A24(NM_013386.5):c.341C>G (p.S114C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716655" "0" "30" "1" "108742698" "108742698" "subst" "1.55476E-5" "01943" "SLC25A24_000012" "g.108742698C>G" "" "" "" "SLC25A24(NM_013386.5):c.63G>C (p.P21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786654" "0" "70" "1" "108700104" "108700104" "subst" "0" "00006" "SLC25A24_000003" "g.108700104G>A" "" "{PMID:Lefebvre 2021:32732226}" "" "NM_013386.4:c.649C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.108157482G>A" "" "likely pathogenic" "" "0000848220" "0" "30" "1" "108681740" "108681740" "subst" "9.45094E-5" "02325" "SLC25A24_000004" "g.108681740T>G" "" "" "" "SLC25A24(NM_013386.5):c.1189A>C (p.T397P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856865" "0" "90" "1" "108700103" "108700103" "subst" "0" "02327" "SLC25A24_000002" "g.108700103C>T" "" "" "" "SLC25A24(NM_013386.4):c.650G>A (p.(Arg217His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882669" "0" "50" "1" "108703824" "108703824" "subst" "0.000262838" "02325" "SLC25A24_000005" "g.108703824G>A" "" "" "" "SLC25A24(NM_013386.5):c.490C>T (p.(Arg164Cys), p.R164C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910733" "0" "90" "1" "108700104" "108700104" "subst" "0" "02329" "SLC25A24_000003" "g.108700104G>A" "" "" "" "SLC25A24(NM_013386.5):c.649C>T (p.R217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000910734" "0" "50" "1" "108700233" "108700233" "subst" "0" "02325" "SLC25A24_000013" "g.108700233T>C" "" "" "" "SLC25A24(NM_013386.5):c.520A>G (p.I174V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973155" "0" "50" "1" "108679366" "108679366" "subst" "4.06306E-6" "01804" "SLC25A24_000014" "g.108679366G>A" "" "" "" "SLC25A24(NM_013386.5):c.1343C>T (p.(Thr448Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973156" "0" "30" "1" "108686349" "108686349" "dup" "0" "01804" "SLC25A24_000015" "g.108686349dup" "" "" "" "SLC25A24(NM_013386.5):c.931-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990083" "0" "50" "1" "108681829" "108681829" "subst" "0" "01804" "SLC25A24_000016" "g.108681829A>G" "" "" "" "SLC25A24(NM_013386.4):c.1100T>C (p.(Leu367Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990084" "0" "30" "1" "108690966" "108690966" "subst" "3.65934E-5" "01804" "SLC25A24_000017" "g.108690966A>G" "" "" "" "SLC25A24(NM_013386.4):c.865T>C (p.(Phe289Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990085" "0" "30" "1" "108742721" "108742721" "subst" "0" "01804" "SLC25A24_000018" "g.108742721C>A" "" "" "" "SLC25A24(NM_013386.4):c.40G>T (p.(Ala14Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031023" "0" "30" "1" "108679315" "108679315" "subst" "4.88059E-5" "01804" "SLC25A24_000010" "g.108679315T>C" "" "" "" "SLC25A24(NM_013386.5):c.1394A>G (p.Y465C, p.(Tyr465Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031024" "0" "50" "1" "108681692" "108681692" "subst" "4.26428E-6" "01804" "SLC25A24_000019" "g.108681692T>C" "" "" "" "SLC25A24(NM_013386.5):c.1237A>G (p.(Met413Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031025" "0" "30" "1" "108681790" "108681790" "subst" "2.07218E-5" "02325" "SLC25A24_000020" "g.108681790G>C" "" "" "" "SLC25A24(NM_013386.5):c.1139C>G (p.S380C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031026" "0" "30" "1" "108686574" "108686574" "subst" "0" "01804" "SLC25A24_000021" "g.108686574G>C" "" "" "" "SLC25A24(NM_013386.5):c.931-242C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031027" "0" "30" "1" "108700245" "108700245" "subst" "7.84301E-5" "01804" "SLC25A24_000009" "g.108700245G>A" "" "" "" "SLC25A24(NM_013386.5):c.511-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031028" "0" "30" "1" "108735221" "108735221" "subst" "3.16084E-5" "01804" "SLC25A24_000022" "g.108735221A>G" "" "" "" "SLC25A24(NM_213651.3):c.23T>C (p.(Leu8Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050183" "0" "50" "1" "108679306" "108679306" "subst" "4.07279E-6" "01804" "SLC25A24_000023" "g.108679306A>G" "" "" "" "SLC25A24(NM_013386.5):c.1403T>C (p.(Met468Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050184" "0" "50" "1" "108679430" "108679430" "subst" "8.13021E-6" "01804" "SLC25A24_000024" "g.108679430T>A" "" "" "" "SLC25A24(NM_013386.5):c.1279A>T (p.(Met427Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050185" "0" "50" "1" "108691018" "108691018" "subst" "4.07299E-6" "01804" "SLC25A24_000025" "g.108691018C>T" "" "" "" "SLC25A24(NM_013386.5):c.823-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050186" "0" "50" "1" "108697633" "108697633" "subst" "1.24151E-5" "01804" "SLC25A24_000026" "g.108697633G>A" "" "" "" "SLC25A24(NM_013386.5):c.794C>T (p.(Thr265Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050187" "0" "30" "1" "108742689" "108742689" "subst" "0" "01804" "SLC25A24_000027" "g.108742689G>C" "" "" "" "SLC25A24(NM_013386.5):c.72C>G (p.(Tyr24*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SLC25A24 ## Count = 40 "{{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}}" "0000241163" "00025239" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "" "0000241164" "00025239" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "" "0000241165" "00025239" "90" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Cys)" "" "0000241166" "00025239" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "" "0000241167" "00025239" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "" "0000241168" "00025239" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "" "0000241169" "00025239" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "" "0000241170" "00025239" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "" "0000241171" "00025239" "90" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Cys)" "" "0000469187" "00025239" "35" "48" "0" "48" "0" "c.48G>A" "r.(?)" "p.(=)" "2" "0000502379" "00025239" "30" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Cys)" "" "0000502380" "00025239" "30" "41" "0" "41" "0" "c.41A>G" "r.(?)" "p.(Tyr14Cys)" "" "0000604633" "00025239" "50" "689" "0" "689" "0" "c.689C>G" "r.(?)" "p.(Ser230Trp)" "" "0000604634" "00025239" "30" "454" "-3" "454" "-3" "c.454-3C>T" "r.spl?" "p.?" "" "0000653576" "00025239" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "" "0000687798" "00025239" "50" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Tyr446Cys)" "" "0000716654" "00025239" "50" "284" "0" "284" "0" "c.284C>G" "r.(?)" "p.(Ser95Cys)" "" "0000716655" "00025239" "30" "-7455" "0" "-7455" "0" "c.-7455G>C" "r.(?)" "p.(=)" "" "0000786654" "00025239" "70" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "" "0000848220" "00025239" "30" "1132" "0" "1132" "0" "c.1132A>C" "r.(?)" "p.(Thr378Pro)" "" "0000856865" "00025239" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Arg198His)" "" "0000882669" "00025239" "50" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145Cys)" "" "0000910733" "00025239" "90" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Cys)" "" "0000910734" "00025239" "50" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Ile155Val)" "" "0000973155" "00025239" "50" "1286" "0" "1286" "0" "c.1286C>T" "r.(?)" "p.(Thr429Ile)" "" "0000973156" "00025239" "30" "874" "-9" "874" "-9" "c.874-9dup" "r.(=)" "p.(=)" "" "0000990083" "00025239" "50" "1043" "0" "1043" "0" "c.1043T>C" "r.(?)" "p.(Leu348Pro)" "" "0000990084" "00025239" "30" "808" "0" "808" "0" "c.808T>C" "r.(?)" "p.(Phe270Leu)" "" "0000990085" "00025239" "30" "-7478" "0" "-7478" "0" "c.-7478G>T" "r.(?)" "p.(=)" "" "0001031023" "00025239" "30" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Tyr446Cys)" "" "0001031024" "00025239" "50" "1180" "0" "1180" "0" "c.1180A>G" "r.(?)" "p.(Met394Val)" "" "0001031025" "00025239" "30" "1082" "0" "1082" "0" "c.1082C>G" "r.(?)" "p.(Ser361Cys)" "" "0001031026" "00025239" "30" "874" "-242" "874" "-242" "c.874-242C>G" "r.(=)" "p.(=)" "" "0001031027" "00025239" "30" "454" "-3" "454" "-3" "c.454-3C>T" "r.spl?" "p.?" "" "0001031028" "00025239" "30" "23" "0" "23" "0" "c.23T>C" "r.(?)" "p.(Leu8Pro)" "" "0001050183" "00025239" "50" "1346" "0" "1346" "0" "c.1346T>C" "r.(?)" "p.(Met449Thr)" "" "0001050184" "00025239" "50" "1222" "0" "1222" "0" "c.1222A>T" "r.(?)" "p.(Met408Leu)" "" "0001050185" "00025239" "50" "766" "-10" "766" "-10" "c.766-10G>A" "r.(=)" "p.(=)" "" "0001050186" "00025239" "50" "737" "0" "737" "0" "c.737C>T" "r.(?)" "p.(Thr246Ile)" "" "0001050187" "00025239" "30" "-7446" "0" "-7446" "0" "c.-7446C>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000147903" "0000241163" "0000147904" "0000241164" "0000147905" "0000241165" "0000147906" "0000241166" "0000147907" "0000241167" "0000147908" "0000241168" "0000147909" "0000241169" "0000147910" "0000241170" "0000147911" "0000241171" "0000228924" "0000469187" "0000375313" "0000786654"