### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC13A5) # 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}}" "SLC13A5" "solute carrier family 13 (sodium-dependent citrate transporter), member 5" "17" "p13.1" "unknown" "NC_000017.10" "UD_136091728861" "" "http://www.LOVD.nl/SLC13A5" "" "1" "23089" "284111" "608305" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/SLC13A5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-08-02 03:41:25" "00000" "2025-05-05 21:14:00" ## 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}}" "00019111" "SLC13A5" "transcript variant 1" "002" "NM_177550.3" "" "NP_808218.1" "" "" "" "-88" "3195" "1707" "6616740" "6588038" "" "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}}" "00004" "KTZS" "Kohlschutter-Tonz syndrome" "AR" "226750" "" "" "" "00002" "2012-05-23 08:55:16" "00006" "2021-12-10 21:51:32" "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" "04127" "EIEE25" "encephalopathy, epileptic, early infantile, type 25 (EIEE-25)" "AR" "615905" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC13A5" "04127" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00059207" "" "" "" "2" "" "01555" "{PMID:Schossig 2017:27600704}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamAPatII3" "00059208" "" "" "00059207" "1" "" "01555" "{PMID:Schossig 2017:27600704}" "" "M" "" "" "" "0" "" "" "" "FamAPatII1" "00059209" "" "" "" "2" "" "01555" "{PMID:Schossig 2017:27600704}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "" "FamBPatII1" "00059210" "" "" "00059209" "1" "" "01555" "{PMID:Schossig 2017:27600704}" "" "F" "no" "" "" "0" "" "" "" "FamBPatII2" "00059211" "" "" "" "2" "" "01555" "{PMID:Schossig 2017:27600704}" "2-generation family, affected borther/sister, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamCPatII1" "00059212" "" "" "" "3" "" "01555" "{PMID:Schossig 2017:27600704}" "2-generation family, affected sisters/brother, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamDPatII2" "00059213" "" "" "00059212" "1" "" "01555" "{PMID:Schossig 2017:27600704}" "" "F" "" "" "" "0" "" "" "" "FamDPatII4" "00059214" "" "" "00059212" "1" "" "01555" "{PMID:Schossig 2017:27600704}" "" "M" "" "" "" "0" "" "" "" "FamDPatII3" "00059216" "" "" "00059211" "1" "" "01555" "{PMID:Schossig 2017:27600704}" "" "F" "" "" "" "0" "" "" "" "FamCPatII2" "00059217" "" "" "" "1" "" "01555" "{PMID:Schossig 2017:27600704}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamEPatII2" "00081018" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00081052" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00103906" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH5013_1/_4" "00103907" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH6102" "00361626" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "09DG00450" "00440345" "" "" "" "1" "" "00006" "{PMID:Thevenon 2016:26757139},{PMID:Nambot 2018:29095811}" "family, several affected" "F" "" "France" "" "0" "" "" "" "Pat8;PED1312.1" "00440353" "" "" "" "1" "" "00006" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "family, several affected" "M" "yes" "France" "" "0" "" "" "" "Pat36;PED1236.4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00059207" "00004" "00059208" "00004" "00059209" "00004" "00059210" "00004" "00059211" "00004" "00059212" "00004" "00059213" "00004" "00059214" "00004" "00059216" "00004" "00059217" "00004" "00081018" "04127" "00081052" "04127" "00103906" "00198" "00103907" "00198" "00361626" "00139" "00440345" "05611" "00440353" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00004, 00139, 00198, 04127, 05611 ## Count = 17 "{{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}}" "0000045713" "00004" "00059207" "01555" "Familial, autosomal recessive" "" "seizure onset: 7 month; Neurological findings: infantile hypotonia, later ataxic dystonic gait, Horner syndrome; Intellectual disability, severe (HP:0010864); MRI brain normal; teeth smooth surface, worn secondary premolars/molars, spaced wide, small, cylindric, yellow-brown" "00y07m" "" "" "" "" "" "" "" "" "" "" "0000045715" "00004" "00059208" "01555" "Familial, autosomal recessive" "" "seizure onset: 1st day; Neurological findings: infantile hypotonia, later spasticity, ataxia, dystonic gait, strabismus ; Intellectual disability, severe (HP:0010864); MRI brain normal; teeth small, cylindric, yellow-brown teeth, interdental spaces, smooth surface, worn secondary premolars/molars, cylindric, yellow-brown" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000045716" "00004" "00059209" "01555" "Familial, autosomal recessive" "" "seizure onset: 1st day; Neurological findings: spastic diplegia, pyramidal signs of the legs, cerebellar ataxia, strabismus; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible on primary and secondary teeth; MRI brain normal; hypoplastic enamel of prim/secondary teeth, sharp-thin lower permanent incisors, worn primary molars" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000045717" "00004" "00059210" "01555" "Familial, autosomal recessive" "" "seizure onset: 2 month; Neurological findings:pyramidal signs of the legs, cerebellar ataxia; Intellectual disability, severe (HP:0010864); primary molars lack enamel and have a yellow surface, opaque enamel of incisors, smooth surface" "00y02m" "" "" "" "" "" "" "" "" "" "" "0000045718" "00004" "00059211" "01555" "Familial, autosomal recessive" "" "seizure onset: 1st day; Neurological findings:hypotonia, ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; MRI brain normal; teeth cylindrical shape, sharp and thin incisal edges with brown discoloration, smooth/hard tooth surface, cylindric, yellow-brown" "00y01m" "" "" "" "" "" "" "" "" "" "" "0000045719" "00004" "00059212" "01555" "Familial, autosomal recessive" "" "seizure onset: 1st day; Neurological findings:coordination deficits; Intellectual disability, moderate (HP:0002342); MRI brain normal; teeth pointed tips, worn premolars/molars, smooth hard surfaces, slight yellow, cylindric, spaced wide" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000045720" "00004" "00059213" "01555" "Familial, autosomal recessive" "" "seizure onset: 1st day; Neurological findings:coordination deficits; Intellectual disability, moderate (HP:0002342); MRI brain normal; teeth pointed tips, worn premolars/molars, smooth hard surfaces, slight yellow, spaced wide, cylindric, yellow-brown" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000045721" "00004" "00059214" "01555" "Familial, autosomal recessive" "" "seizure onset: 1st day; Neurological findings: ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; MRI brain normal; mild-moderate speech delay (HP:0000750); teeth pointed tips, worn premolars/molars, smooth hard surfaces, slight yellow, cylindric, spaced wide" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000045722" "00004" "00059216" "01555" "Familial, autosomal recessive" "" "seizure onset: 1,5 month; Neurological findings:hypotonia, ataxia; Intellectual disability, severe (HP:0010864); Dental radiographs: no enamel visible; delay in tooth eruption; MRI brain normal; small secondary incisors-cylindric, sharp and thin incisal edges, smooth hard surface, cylindric, yellow-brown" "00y02m" "" "" "" "" "" "" "" "" "" "" "0000045724" "00004" "00059217" "01555" "Familial, autosomal recessive" "" "seizure onset: 1st day, neurological findings: marked hypotonia, marked developmental delay; MRI-brain atrophy of left hemisphere, bilateral changes in globus pallidus, probably postictal; teeth opaque enamel of incisors, smooth surface, worn primary molars, cylindric shape, spaced wide" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "0000060587" "04127" "00081018" "01758" "Familial, autosomal recessive" "" "Epileptic encephalopathy, early infantile, 25 (OMIM:615905)" "" "" "" "" "" "" "" "" "" "" "" "0000060621" "04127" "00081052" "01758" "Familial, autosomal recessive" "" "Epileptic encephalopathy, early infantile, 25 (OMIM:615905)" "" "" "" "" "" "" "" "" "" "" "" "0000081833" "00198" "00103906" "00006" "Familial, autosomal recessive" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "0000081834" "00198" "00103907" "00006" "Familial, autosomal recessive" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "0000257031" "00139" "00361626" "00006" "Familial, autosomal recessive" "9y" "not syndromic; intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000330255" "05611" "00440345" "00006" "Familial, autosomal recessive" "2y" "epilepsy; epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330263" "05611" "00440353" "00006" "Familial, autosomal recessive" "5y" "epilepsy; epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059193" "00059207" "1" "01555" "01555" "2016-03-03 08:57:41" "" "" "SEQ" "DNA" "" "" "0000059194" "00059208" "1" "01555" "01555" "2016-03-03 09:39:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000059195" "00059209" "1" "01555" "01555" "2016-03-03 10:56:26" "" "" "SEQ" "DNA" "" "" "0000059196" "00059210" "1" "01555" "01555" "2016-03-03 11:04:21" "" "" "SEQ" "DNA" "" "" "0000059197" "00059211" "1" "01555" "01555" "2016-03-03 11:11:31" "" "" "SEQ" "DNA" "" "" "0000059198" "00059212" "1" "01555" "01555" "2016-03-03 11:21:22" "" "" "SEQ" "DNA" "" "" "0000059199" "00059213" "1" "01555" "01555" "2016-03-03 11:27:42" "" "" "SEQ" "DNA" "" "" "0000059200" "00059214" "1" "01555" "01555" "2016-03-03 11:38:43" "" "" "SEQ" "DNA" "" "" "0000059201" "00059216" "1" "01555" "01555" "2016-03-03 12:49:21" "" "" "SEQ" "DNA" "" "" "0000059202" "00059217" "1" "01555" "01555" "2016-03-03 12:58:30" "" "" "SEQ" "DNA" "" "" "0000081130" "00081018" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081164" "00081052" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104364" "00103906" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104365" "00103907" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000362854" "00361626" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000441830" "00440345" "1" "00006" "00006" "2023-11-02 11:20:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441838" "00440353" "1" "00006" "00006" "2023-11-02 11:20:13" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000059193" "SLC13A5" "0000059194" "SLC13A5" "0000059195" "SLC13A5" "0000059196" "SLC13A5" "0000059197" "SLC13A5" "0000059198" "SLC13A5" "0000059199" "SLC13A5" "0000059200" "SLC13A5" "0000059201" "SLC13A5" "0000059202" "SLC13A5" "0000081130" "SLC13A5" "0000081164" "SLC13A5" "0000104364" "SLC13A5" "0000104365" "SLC13A5" "0000362854" "SLC13A5" ## 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 = 49 "{{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}}" "0000090022" "3" "90" "17" "6599103" "6599103" "subst" "1.62505E-5" "01555" "SLC13A5_000001" "g.6599103G>A" "ExAC: 0.00001649" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6695784G>A" "" "pathogenic (recessive)" "" "0000090023" "3" "70" "17" "6599103" "6599103" "subst" "1.62505E-5" "01555" "SLC13A5_000001" "g.6599103G>A" "ExAC: 0.00001649" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6695784G>A" "" "pathogenic (recessive)" "" "0000090024" "2" "70" "17" "6610375" "6610375" "subst" "0" "01555" "SLC13A5_000005" "g.6610375G>T" "" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6707056G>T" "" "pathogenic (recessive)" "" "0000090025" "1" "70" "17" "6607310" "6607310" "subst" "0" "01555" "SLC13A5_000003" "g.6607310G>T" "" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6703991G>T" "" "pathogenic (recessive)" "" "0000090026" "2" "70" "17" "6610375" "6610375" "subst" "0" "01555" "SLC13A5_000005" "g.6610375G>T" "" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6707056G>T" "" "pathogenic (recessive)" "" "0000090027" "1" "70" "17" "6607310" "6607310" "subst" "0" "01555" "SLC13A5_000003" "g.6607310G>T" "" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6703991G>T" "" "pathogenic (recessive)" "" "0000090028" "2" "70" "17" "6610476" "6610476" "subst" "0" "01555" "SLC13A5_000006" "g.6610476C>T" "" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6707157C>T" "" "pathogenic (recessive)" "" "0000090029" "1" "70" "17" "6594260" "6594260" "subst" "0" "01555" "SLC13A5_000007" "g.6594260C>T" "" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6690941C>T" "" "pathogenic (recessive)" "" "0000090030" "11" "70" "17" "6607319" "6607319" "subst" "8.14584E-6" "01555" "SLC13A5_000004" "g.6607319G>A" "ExAC: 0.00001705" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6704000G>A" "" "pathogenic (recessive)" "" "0000090031" "21" "70" "17" "6606350" "6606350" "subst" "0.000150321" "01555" "SLC13A5_000002" "g.6606350C>T" "ExAC: 0.0002060" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6703031C>T" "" "pathogenic (recessive)" "" "0000090032" "11" "70" "17" "6607319" "6607319" "subst" "8.14584E-6" "01555" "SLC13A5_000004" "g.6607319G>A" "ExAC: 0.00001705" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6704000G>A" "" "pathogenic (recessive)" "" "0000090033" "21" "70" "17" "6606350" "6606350" "subst" "0.000150321" "01555" "SLC13A5_000002" "g.6606350C>T" "ExAC: 0.0002060" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6703031C>T" "" "pathogenic (recessive)" "" "0000090034" "11" "70" "17" "6607319" "6607319" "subst" "8.14584E-6" "01555" "SLC13A5_000004" "g.6607319G>A" "ExAC: 0.00001705" "{PMID:Schossig 2017:27600704}" "" "" "to Brain" "Germline" "yes" "" "0" "" "" "g.6704000G>A" "" "pathogenic (recessive)" "" "0000090035" "21" "70" "17" "6606350" "6606350" "subst" "0.000150321" "01555" "SLC13A5_000002" "g.6606350C>T" "ExAC: 0.0002060" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6703031C>T" "" "pathogenic (recessive)" "" "0000090036" "2" "70" "17" "6610476" "6610476" "subst" "0" "01555" "SLC13A5_000006" "g.6610476C>T" "" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6707157C>T" "" "pathogenic (recessive)" "" "0000090037" "1" "70" "17" "6594260" "6594260" "subst" "0" "01555" "SLC13A5_000007" "g.6594260C>T" "" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6690941C>T" "" "pathogenic (recessive)" "" "0000090038" "3" "70" "17" "6606325" "6606325" "subst" "2.03353E-5" "01555" "SLC13A5_000008" "g.6606325G>A" "" "{PMID:Schossig 2017:27600704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6703006G>A" "" "pathogenic (recessive)" "" "0000130216" "3" "90" "17" "6606350" "6606350" "subst" "0.000150321" "01758" "SLC13A5_000002" "g.6606350C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.6703031C>T" "" "pathogenic" "ACMG" "0000130250" "3" "70" "17" "6596411" "6596411" "subst" "0" "01758" "SLC13A5_000009" "g.6596411dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.6693092dup" "" "likely pathogenic" "ACMG" "0000169044" "1" "90" "17" "6590948" "6590948" "subst" "0" "00006" "SLC13A5_000010" "g.6590948A>G" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.6687629A>G" "" "pathogenic" "" "0000169045" "1" "90" "17" "6599103" "6599103" "subst" "1.62505E-5" "00006" "SLC13A5_000001" "g.6599103G>A" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.6695784G>A" "" "pathogenic" "" "0000169059" "2" "90" "17" "6606350" "6606350" "subst" "0.000150321" "00006" "SLC13A5_000002" "g.6606350C>T" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.6703031C>T" "" "pathogenic" "" "0000169060" "2" "90" "17" "6606325" "6606325" "subst" "2.03353E-5" "00006" "SLC13A5_000008" "g.6606325G>A" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.6703006G>A" "" "pathogenic" "" "0000299496" "0" "90" "17" "6597517" "6597517" "subst" "0" "02329" "SLC13A5_000013" "g.6597517C>T" "" "" "" "SLC13A5(NM_177550.5):c.1056-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6694198C>T" "" "pathogenic" "" "0000302163" "0" "30" "17" "6596540" "6596549" "del" "0" "02326" "SLC13A5_000012" "g.6596540_6596549del" "" "" "" "SLC13A5(NM_177550.4):c.1157-26_1157-17delGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6693221_6693230del" "" "likely benign" "" "0000302164" "0" "70" "17" "6594255" "6594255" "subst" "4.19777E-6" "02326" "SLC13A5_000011" "g.6594255G>A" "" "" "" "SLC13A5(NM_177550.4):c.1280C>T (p.S427L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6690936G>A" "" "likely pathogenic" "" "0000302165" "0" "70" "17" "6606325" "6606325" "subst" "2.03353E-5" "02326" "SLC13A5_000008" "g.6606325G>A" "" "" "" "SLC13A5(NM_177550.4):c.680C>T (p.T227M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6703006G>A" "" "likely pathogenic" "" "0000349372" "0" "70" "17" "6606325" "6606325" "subst" "2.03353E-5" "02327" "SLC13A5_000008" "g.6606325G>A" "" "" "" "SLC13A5(NM_177550.4):c.680C>T (p.T227M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6703006G>A" "" "likely pathogenic" "" "0000562853" "0" "70" "17" "6594255" "6594255" "subst" "4.19777E-6" "02327" "SLC13A5_000011" "g.6594255G>A" "" "" "" "SLC13A5(NM_177550.4):c.1280C>T (p.S427L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6690936G>A" "" "likely pathogenic" "" "0000562857" "0" "70" "17" "6596363" "6596363" "subst" "0" "02327" "SLC13A5_000015" "g.6596363C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6693044C>G" "" "likely pathogenic" "" "0000562858" "0" "10" "17" "6596536" "6596549" "del" "0" "02326" "SLC13A5_000016" "g.6596536_6596549del" "" "" "" "SLC13A5(NM_177550.4):c.1157-30_1157-17delGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6693217_6693230del" "" "benign" "" "0000562860" "0" "30" "17" "6606315" "6606315" "subst" "0.000122097" "02326" "SLC13A5_000017" "g.6606315G>A" "" "" "" "SLC13A5(NM_177550.4):c.690C>T (p.N230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6702996G>A" "" "likely benign" "" "0000562862" "0" "30" "17" "6610457" "6610457" "subst" "8.12565E-6" "01943" "SLC13A5_000019" "g.6610457C>T" "" "" "" "SLC13A5(NM_177550.4):c.121G>A (p.V41I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6707138C>T" "" "likely benign" "" "0000616774" "0" "10" "17" "6596546" "6596549" "dup" "0" "02326" "SLC13A5_000020" "g.6596546_6596549dup" "" "" "" "SLC13A5(NM_177550.4):c.1157-22_1157-19dupGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6693227_6693230dup" "" "benign" "" "0000623746" "0" "30" "17" "6596548" "6596549" "del" "0" "02326" "SLC13A5_000021" "g.6596548_6596549del" "" "" "" "SLC13A5(NM_177550.4):c.1157-18_1157-17delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6693229_6693230del" "" "likely benign" "" "0000623747" "0" "30" "17" "6607392" "6607392" "subst" "0.000307874" "02326" "SLC13A5_000022" "g.6607392G>A" "" "" "" "SLC13A5(NM_177550.4):c.369-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6704073G>A" "" "likely benign" "" "0000680990" "0" "70" "17" "6606325" "6606325" "subst" "2.03353E-5" "01943" "SLC13A5_000008" "g.6606325G>A" "" "" "" "SLC13A5(NM_177550.4):c.680C>T (p.T227M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692448" "0" "30" "17" "6607318" "6607318" "subst" "0.00213438" "02326" "SLC13A5_000023" "g.6607318C>T" "" "" "" "SLC13A5(NM_177550.4):c.426G>A (p.T142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763228" "3" "90" "17" "6610345" "6610345" "subst" "0" "00006" "SLC13A5_000024" "g.6610345A>C" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.6707026A>C" "" "pathogenic" "ACMG" "0000855068" "0" "90" "17" "6606350" "6606350" "subst" "0.000150321" "02325" "SLC13A5_000002" "g.6606350C>T" "" "" "" "SLC13A5(NM_177550.5):c.655G>A (p.(Gly219Arg), p.G219R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855069" "0" "30" "17" "6607318" "6607318" "subst" "0.00213438" "01943" "SLC13A5_000023" "g.6607318C>T" "" "" "" "SLC13A5(NM_177550.4):c.426G>A (p.T142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865469" "0" "30" "17" "6594140" "6594140" "subst" "0.000320797" "01943" "SLC13A5_000025" "g.6594140G>A" "" "" "" "SLC13A5(NM_177550.4):c.1395C>T (p.N465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000939767" "1" "90" "17" "6606325" "6606325" "subst" "2.03353E-5" "00006" "SLC13A5_000008" "g.6606325G>A" "" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.6703006G>A" "" "pathogenic (recessive)" "" "0000939775" "3" "90" "17" "6589632" "6589632" "subst" "0" "00006" "SLC13A5_000026" "g.6589632A>G" "" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.6686313A>G" "" "likely pathogenic (recessive)" "" "0000939781" "2" "90" "17" "6606350" "6606350" "subst" "0.000150321" "00006" "SLC13A5_000002" "g.6606350C>T" "" "{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.6703031C>T" "" "pathogenic (recessive)" "" "0000982739" "0" "50" "17" "6599109" "6599109" "subst" "6.49899E-5" "01804" "SLC13A5_000027" "g.6599109A>T" "" "" "" "SLC13A5(NM_177550.5):c.991T>A (p.(Phe331Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042128" "0" "50" "17" "6596392" "6596392" "subst" "0" "01804" "SLC13A5_000028" "g.6596392C>A" "" "" "" "SLC13A5(NM_177550.5):c.1246G>T (p.(Gly416Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042131" "0" "90" "17" "6606350" "6606350" "subst" "0.000150321" "01804" "SLC13A5_000002" "g.6606350C>T" "" "" "" "SLC13A5(NM_177550.5):c.655G>A (p.(Gly219Arg), p.G219R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042132" "0" "30" "17" "6609954" "6609954" "subst" "0" "01804" "SLC13A5_000029" "g.6609954T>C" "" "" "" "SLC13A5(NM_177550.5):c.368+7A>G" "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 SLC13A5 ## Count = 49 "{{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}}" "0000090022" "00019111" "90" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333*)" "7" "0000090023" "00019111" "70" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333*)" "7" "0000090024" "00019111" "70" "203" "0" "203" "0" "c.203C>A" "r.(?)" "p.(Pro68Gln)" "2" "0000090025" "00019111" "70" "434" "0" "434" "0" "c.434C>A" "r.(?)" "p.(Thr145Lys)" "4" "0000090026" "00019111" "70" "203" "0" "203" "0" "c.203C>A" "r.(?)" "p.(Pro68Gln)" "2" "0000090027" "00019111" "70" "434" "0" "434" "0" "c.434C>A" "r.(?)" "p.(Thr145Lys)" "4" "0000090028" "00019111" "70" "103" "-1" "103" "-1" "c.103-1G>A" "r.spl" "p.?" "2" "0000090029" "00019111" "70" "1276" "-1" "1276" "-1" "c.1276-1G>A" "r.spl" "p.?" "10" "0000090030" "00019111" "70" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Thr142Met)" "4" "0000090031" "00019111" "70" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "5" "0000090032" "00019111" "70" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Thr142Met)" "4" "0000090033" "00019111" "70" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "5" "0000090034" "00019111" "70" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Thr142Met)" "4" "0000090035" "00019111" "70" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "5" "0000090036" "00019111" "70" "103" "-1" "103" "-1" "c.103-1G>A" "r.spl" "p.?" "2" "0000090037" "00019111" "70" "1276" "-1" "1276" "-1" "c.1276-1G>A" "r.spl" "p.?" "10" "0000090038" "00019111" "70" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Thr227Met)" "" "0000130216" "00019111" "90" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "" "0000130250" "00019111" "70" "1227" "0" "1227" "0" "c.1227dup" "r.(?)" "p.(Ile410Hisfs*13)" "" "0000169044" "00019111" "90" "1475" "0" "1475" "0" "c.1475T>C" "r.(?)" "p.(Leu492Pro)" "11" "0000169045" "00019111" "90" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333*)" "7" "0000169059" "00019111" "90" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "5" "0000169060" "00019111" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Thr227Met)" "5" "0000299496" "00019111" "90" "1056" "-1" "1056" "-1" "c.1056-1G>A" "r.spl?" "p.?" "" "0000302163" "00019111" "30" "1157" "-26" "1157" "-17" "c.1157-26_1157-17del" "r.(=)" "p.(=)" "" "0000302164" "00019111" "70" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ser427Leu)" "" "0000302165" "00019111" "70" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Thr227Met)" "" "0000349372" "00019111" "70" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Thr227Met)" "" "0000562853" "00019111" "70" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Ser427Leu)" "" "0000562857" "00019111" "70" "1275" "0" "1275" "0" "c.1275G>C" "r.(?)" "p.(Glu425Asp)" "" "0000562858" "00019111" "10" "1157" "-30" "1157" "-17" "c.1157-30_1157-17del" "r.(=)" "p.(=)" "" "0000562860" "00019111" "30" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(Asn230=)" "" "0000562862" "00019111" "30" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Val41Ile)" "" "0000616774" "00019111" "10" "1157" "-20" "1157" "-17" "c.1157-20_1157-17dup" "r.(=)" "p.(=)" "" "0000623746" "00019111" "30" "1157" "-18" "1157" "-17" "c.1157-18_1157-17del" "r.(=)" "p.(=)" "" "0000623747" "00019111" "30" "369" "-17" "369" "-17" "c.369-17C>T" "r.(=)" "p.(=)" "" "0000680990" "00019111" "70" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Thr227Met)" "" "0000692448" "00019111" "30" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(Thr142=)" "" "0000763228" "00019111" "90" "231" "2" "231" "2" "c.231+2T>G" "r.spl" "p.?" "" "0000855068" "00019111" "90" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "" "0000855069" "00019111" "30" "426" "0" "426" "0" "c.426G>A" "r.(?)" "p.(Thr142=)" "" "0000865469" "00019111" "30" "1395" "0" "1395" "0" "c.1395C>T" "r.(?)" "p.(Asn465=)" "" "0000939767" "00019111" "90" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Thr227Met)" "" "0000939775" "00019111" "90" "1463" "0" "1463" "0" "c.1463T>C" "r.(?)" "p.(Leu488Pro)" "" "0000939781" "00019111" "90" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "" "0000982739" "00019111" "50" "991" "0" "991" "0" "c.991T>A" "r.(?)" "p.(Phe331Ile)" "" "0001042128" "00019111" "50" "1246" "0" "1246" "0" "c.1246G>T" "r.(?)" "p.(Gly416Cys)" "" "0001042131" "00019111" "90" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "" "0001042132" "00019111" "30" "368" "7" "368" "7" "c.368+7A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000059193" "0000090022" "0000059194" "0000090023" "0000059195" "0000090024" "0000059195" "0000090025" "0000059196" "0000090026" "0000059196" "0000090027" "0000059197" "0000090028" "0000059197" "0000090029" "0000059198" "0000090030" "0000059198" "0000090031" "0000059199" "0000090032" "0000059199" "0000090033" "0000059200" "0000090034" "0000059200" "0000090035" "0000059201" "0000090036" "0000059201" "0000090037" "0000059202" "0000090038" "0000081130" "0000130216" "0000081164" "0000130250" "0000104364" "0000169044" "0000104364" "0000169059" "0000104365" "0000169045" "0000104365" "0000169060" "0000362854" "0000763228" "0000441830" "0000939767" "0000441830" "0000939781" "0000441838" "0000939775"