### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SLC17A5)
# 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}}"
"SLC17A5" "solute carrier family 17 (anion/sugar transporter), member 5" "6" "q13" "unknown" "NG_008272.1" "UD_132118860859" "" "https://www.LOVD.nl/SLC17A5" "Finnish Disease Database (FinDis) " "1" "10933" "26503" "604322" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/SLC17A5_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-08-30 00:00:00" "00006" "2019-07-21 20:40:23" "00000" "2022-05-09 15:51:19"
## 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}}"
"00000286" "SLC17A5" "solute carrier family 17 (anion/sugar transporter), member 5" "001" "NM_012434.4" "" "NP_036566.1" "" "" "" "-128" "3186" "1488" "74363737" "74303102" "00008" "2012-08-30 17:46:28" "" ""
## 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}}"
"00048" "ISSD" "sialic acid storage disorder, infantile (ISSD)" "AR" "269920" "" "" "" "00008" "2012-08-30 17:40:36" "00006" "2021-12-10 21:51:32"
"00049" "SD" "Salla disease (SD)" "AR" "604369" "" "" "" "00008" "2012-08-30 17:41:19" "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" "2016-10-22 17:54:40"
"05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"SLC17A5" "00048"
"SLC17A5" "00049"
"SLC17A5" "00139"
## Individuals ## Do not remove or alter this header ##
## Count = 9
"{{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}}"
"00050621" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00080925" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" ""
"00209033" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "F" "" "Canada" "" "0" "" "" "" "28771251-Pat59"
"00294181" "" "" "" "109" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294182" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00305114" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00331566" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "15DG0877"
"00358877" "" "" "" "1" "" "03566" "" "" "" "?" "" "" "" "" "" "" "SLC17A5"
"00401512" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "124P"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{individualid}}" "{{diseaseid}}"
"00050621" "00198"
"00080925" "00049"
"00209033" "00198"
"00294181" "00198"
"00294182" "00198"
"00305114" "00198"
"00331566" "05517"
"00358877" "00198"
"00401512" "00048"
"00401512" "00049"
"00401512" "00139"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00048, 00049, 00139, 00198, 05517
## Count = 5
"{{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}}"
"0000037233" "00198" "00050621" "00006" "Unknown" "" "global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement" "" "" "" "" "" "" "" "" "" "" ""
"0000060494" "00049" "00080925" "01758" "Familial, autosomal recessive" "" "Salla disease (OMIM:604369)" "" "" "" "" "" "" "" "" "" "" ""
"0000157639" "00198" "00209033" "00006" "Familial, autosomal recessive" "" "Complex neurological phenotype" "" "" "" "" "" "" "" "" "ISSD" "complex neurological phenotype" ""
"0000249758" "05517" "00331566" "00000" "Familial, autosomal recessive" "" "Fetal ascites, Pulmonary hypoplasia, Neonatal respiratory distress, Potter facies, Low-set No" "" "" "" "" "" "" "" "" "Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group)" "skeletal dysplasia" ""
"0000254135" "00198" "00358877" "03566" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 9
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000050566" "00050621" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000081037" "00080925" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000210090" "00209033" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000295349" "00294181" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295350" "00294182" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000306243" "00305114" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000332785" "00331566" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000360109" "00358877" "1" "03566" "03566" "2021-03-17 07:06:36" "" "" "?" "DNA" "" ""
"0000402756" "00401512" "1" "02494" "02494" "2022-01-31 13:19:13" "" "" "SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{geneid}}"
"0000081037" "SLC17A5"
"0000210090" "SLC17A5"
"0000332785" "SLC17A5"
## 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 = 62
"{{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}}"
"0000016431" "0" "99" "6" "74354327" "74354327" "subst" "0.00000813068" "00015" "SLC17A5_000001" "g.74354327C>G" "" "{PMID:Aula et al. 2000:10947946}" "" "cDNA 95-1G>C: Removes splice site, deletion of exon 2 (95–291del)" "1 Swedish SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73644604C>G" "" "pathogenic" ""
"0000016432" "0" "99" "6" "74354306" "74354306" "subst" "0.000832487" "00015" "SLC17A5_000002" "g.74354306G>A" "0/100 FIN CON" "{PMID:Verheijen et al. 1999:10581036}, {PMID:Aula et al. 2000:10947946}, {PMID:Varho et al. 2002:11992753}, {PMID:Linnakivi et al. 2003:12592494}, {PMID:Martin et al. 2003:12794687}, {PMID:Strauss et al. 2005:16158439}" "" "R39C, in loop before TM domain 1" "Finnish major SD mutation: >100 Finnish SD patients (most hom) and also 14 Swedish SD patients (most hom). In addition, British, Italian, Dutch, German, American and Old Order Mennonite SD patients." "SUMMARY record" "yes" "rs80338794" "" "" "" "g.73644583G>A" "" "pathogenic" ""
"0000016433" "21" "77" "6" "74320156" "74320156" "subst" "0.00000406108" "00015" "SLC17A5_000003" "g.74320156C>T" "" "{PMID:Kleta et al. 2001:15172001}" "" "c1226G>A, G409E, alteration of a highly conserved amino acid within a transmembrane region" "1 Caucasian SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73610433C>T" "" "likely pathogenic" ""
"0000016434" "11" "99" "6" "74354130" "74354130" "subst" "0.000016277" "00015" "SLC17A5_000004" "g.74354130C>T" "" "{PMID:Kleta et al. 2001:15172001}" "" "c291G>A" "1 Caucasian SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73644407C>T" "" "pathogenic" ""
"0000016435" "0" "99" "6" "74348137" "74351649" "del" "0" "00015" "SLC17A5_000005" "g.74348137_74351649del" "" "{PMID:Aula et al. 2000:10947946}" "" "292–611del:deletion of exons 3-4" "1 German SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73638414_73641926del" "" "pathogenic" ""
"0000016436" "0" "99" "6" "74351630" "74351630" "subst" "0" "00015" "SLC17A5_000006" "g.74351630C>T" "" "{PMID:Aula et al. 2000:10947946}" "" "309G>A, W103X" "1 Swedish SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73641907C>T" "" "pathogenic" ""
"0000016437" "0" "99" "6" "74351533" "74351533" "subst" "0.0000324881" "00015" "SLC17A5_000007" "g.74351533T>C" "" "{PMID:Aula et al. 2000:10947946}, {PMID:Biancheri et al. 2005:16170568}" "" "406A>G, K136E" "1 Finnish SD patient (com-het), 1 Italian SD patient (hom)" "SUMMARY record" "yes" "rs80338795" "" "" "" "g.73641810T>C" "" "pathogenic" ""
"0000016438" "0" "99" "6" "74351432" "74351432" "del" "0.0000203477" "00015" "SLC17A5_000008" "g.74351432del" "" "{PMID:Linnakivi et al. 2003:12592494}" "" "del 507A" "1 Finnish SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73641709del" "" "pathogenic" ""
"0000016439" "0" "99" "6" "74345105" "74348221" "del" "0" "00015" "SLC17A5_000009" "g.74345105_74348221del" "" "{PMID:Varho et al. 2002:11992753}, {PMID:Aula et al. 2000:10947946}" "" "526–819del: del exons 4–6; del (525-818): del exons 4-6" "4 Finnish SD patients (com-het)\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "" "" "" "" "" "pathogenic" ""
"0000016440" "0" "99" "6" "74345205" "74345205" "subst" "0.0000547687" "00015" "SLC17A5_000010" "g.74345205C>T" "" "{PMID:Aula et al. 2000:10947946}" "" "719G>A, W240X" "1 Finnish SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73635482C>T" "" "pathogenic" ""
"0000016441" "0" "99" "6" "74345109" "74345123" "del" "0" "00015" "SLC17A5_000011" "g.74345109_74345123del" "" "{PMID:Biancheri et al. 2002:12121352}" "" "15 base-pair deletion (802–816) in exon 6" "1 Italian SD patient (het); (previously found only in ISSD patients)" "SUMMARY record" "yes" "" "" "" "" "g.73635386_73635400del" "" "pathogenic" ""
"0000016442" "3" "77" "6" "74325166" "74325166" "subst" "0" "00015" "SLC17A5_000012" "g.74325166C>T" "0/50 BED CON" "{PMID:Landau et al. 2004:15172005}" "" "983G>A nucleotide change in exon 8" "1 Bedouin SD family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.73615443C>T" "" "likely pathogenic" ""
"0000016443" "0" "99" "6" "74325141" "74325142" "del" "0" "00015" "SLC17A5_000013" "g.74325141_74325142del" "" "{PMID:Aula et al. 2000:10947946}, {PMID:Varho et al. 2002:11992753}" "" "2-base pair deletion (1007-1008)" "5 Finnish SD patients (com-het) and 1 Swedish SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73615418_73615419del" "" "pathogenic" ""
"0000016444" "0" "99" "6" "74320243" "74320244" "del" "0.0000568579" "00015" "SLC17A5_000014" "g.74320243_74320244del" "" "{PMID:Aula et al. 2000:10947946}" "" "1138–1139del: Frameshift, 7 novel amino acids, premature stop" "1 British SD family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73610520_73610521del" "" "pathogenic" ""
"0000039756" "0" "77" "6" "74351439" "74351439" "subst" "0.00000812757" "00015" "SLC17A5_000015" "g.74351439A>G" "" "{PMID:Couce et al. 2014:24993898}" "" "" "1 Spanish patient (com-het) with SD" "SUMMARY record" "yes" "" "0" "" "" "g.73641716A>G" "" "likely pathogenic" ""
"0000039757" "0" "77" "6" "74331587" "74331587" "subst" "0.0000771831" "00015" "SLC17A5_000016" "g.74331587A>C" "" "{PMID:Couce et al. 2014:24993898}, {PMID:Aula et al. 2000:10947946}" "" "" "1 Spanish patient (com-het) with SD, previously found in one French ISSD patient (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.73621864A>C" "" "likely pathogenic" ""
"0000079546" "21" "90" "6" "73709065" "76815249" "del" "0" "00006" "KHDC3L_000005" "g.73709065_76815249del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000130123" "3" "70" "6" "74354305" "74354305" "subst" "0.00000812176" "01758" "SLC17A5_000017" "g.74354305C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.73644582C>T" "" "likely pathogenic" "ACMG"
"0000298239" "0" "90" "6" "74354306" "74354306" "subst" "0.000832487" "02325" "SLC17A5_000002" "g.74354306G>A" "" "" "" "SLC17A5(NM_012434.4):c.115C>T (p.R39C), SLC17A5(NM_012434.5):c.115C>T (p.R39C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73644583G>A" "" "pathogenic" ""
"0000298240" "0" "30" "6" "74310100" "74310100" "subst" "0.00112104" "02325" "SLC17A5_000019" "g.74310100C>T" "" "" "" "SLC17A5(NM_012434.4):c.1324G>A (p.V442I), SLC17A5(NM_012434.5):c.1324G>A (p.V442I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73600377C>T" "" "likely benign" ""
"0000308232" "0" "90" "6" "74325037" "74325037" "subst" "0.00000406303" "01943" "SLC17A5_000021" "g.74325037C>T" "" "" "" "SLC17A5(NM_012434.4):c.1111+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73615314C>T" "" "pathogenic" ""
"0000308233" "0" "10" "6" "74325031" "74325031" "subst" "0.0216151" "01943" "SLC17A5_000020" "g.74325031C>T" "" "" "" "SLC17A5(NM_012434.4):c.1111+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73615308C>T" "" "benign" ""
"0000308234" "0" "90" "6" "74354306" "74354306" "subst" "0.000832487" "01943" "SLC17A5_000002" "g.74354306G>A" "" "" "" "SLC17A5(NM_012434.4):c.115C>T (p.R39C), SLC17A5(NM_012434.5):c.115C>T (p.R39C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73644583G>A" "" "pathogenic" ""
"0000308235" "0" "10" "6" "74304960" "74304960" "subst" "0.00439992" "01943" "SLC17A5_000018" "g.74304960C>T" "" "" "" "SLC17A5(NM_012434.4):c.1351-23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73595237C>T" "" "benign" ""
"0000308236" "0" "10" "6" "74354175" "74354175" "subst" "0.098386" "01943" "SLC17A5_000028" "g.74354175C>T" "" "" "" "SLC17A5(NM_012434.4):c.246G>A (p.A82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73644452C>T" "" "benign" ""
"0000308237" "0" "90" "6" "74351432" "74351432" "del" "0.0000203477" "01943" "SLC17A5_000026" "g.74351432del" "" "" "" "SLC17A5(NM_012434.4):c.507delA (p.L170*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73641709del" "" "pathogenic" ""
"0000308238" "0" "90" "6" "74348215" "74348215" "del" "0.0000528262" "01943" "SLC17A5_000025" "g.74348215del" "" "" "" "SLC17A5(NM_012434.4):c.533delC (p.T178Nfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73638492del" "" "pathogenic" ""
"0000308239" "0" "10" "6" "74348142" "74348142" "subst" "0.0869514" "01943" "SLC17A5_000024" "g.74348142T>C" "" "" "" "SLC17A5(NM_012434.4):c.606A>G (p.S202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73638419T>C" "" "benign" ""
"0000308240" "0" "90" "6" "74345205" "74345205" "subst" "0.0000547687" "01943" "SLC17A5_000010" "g.74345205C>T" "" "" "" "SLC17A5(NM_012434.4):c.719G>A (p.W240*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73635482C>T" "" "pathogenic" ""
"0000308241" "0" "90" "6" "74345109" "74345123" "del" "0" "01943" "SLC17A5_000011" "g.74345109_74345123del" "" "" "" "SLC17A5(NM_012434.4):c.802_816delTCATCATTAAGAAAT (p.S268_N272del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73635386_73635400del" "" "pathogenic" ""
"0000308242" "0" "30" "6" "74331688" "74331688" "subst" "0.00465487" "01943" "SLC17A5_000023" "g.74331688G>A" "" "" "" "SLC17A5(NM_012434.4):c.820-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73621965G>A" "" "likely benign" ""
"0000331091" "0" "50" "6" "74351458" "74351458" "subst" "0.0000812427" "01804" "SLC17A5_000027" "g.74351458C>T" "" "" "" "SLC17A5(NM_012434.4):c.481G>A (p.(Val161Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73641735C>T" "" "VUS" ""
"0000441260" "1" "90" "6" "74354130" "74354130" "subst" "0.000016277" "00006" "SLC17A5_000004" "g.74354130C>T" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.73644407C>T" "" "pathogenic (recessive)" ""
"0000441261" "2" "90" "6" "74345104" "74345104" "subst" "0" "00006" "SLC17A5_000029" "g.74345104C>T" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.73635381C>T" "" "pathogenic (recessive)" ""
"0000529486" "0" "50" "6" "74320123" "74320123" "subst" "0.00000406144" "01804" "SLC17A5_000030" "g.74320123G>A" "" "" "" "SLC17A5(NM_012434.4):c.1259C>T (p.(Ser420Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73610400G>A" "" "VUS" ""
"0000529487" "0" "50" "6" "74320190" "74320190" "subst" "0.0000893372" "02327" "SLC17A5_000031" "g.74320190T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73610467T>C" "" "VUS" ""
"0000529489" "0" "90" "6" "74325159" "74325159" "dup" "0" "01943" "SLC17A5_000032" "g.74325159dup" "" "" "" "SLC17A5(NM_012434.4):c.990dupA (p.S331Ifs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73615436dup" "" "pathogenic" ""
"0000529490" "0" "30" "6" "74331548" "74331548" "subst" "0.000276481" "01943" "SLC17A5_000033" "g.74331548G>T" "" "" "" "SLC17A5(NM_012434.4):c.957C>A (p.I319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73621825G>T" "" "likely benign" ""
"0000529491" "0" "50" "6" "74331606" "74331606" "subst" "0.00119" "01943" "SLC17A5_000034" "g.74331606G>A" "" "" "" "SLC17A5(NM_012434.4):c.899C>T (p.S300F, p.(Ser300Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73621883G>A" "" "VUS" ""
"0000529492" "0" "50" "6" "74331606" "74331606" "subst" "0.00119" "02327" "SLC17A5_000034" "g.74331606G>A" "" "" "" "SLC17A5(NM_012434.4):c.899C>T (p.S300F, p.(Ser300Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73621883G>A" "" "VUS" ""
"0000529493" "0" "30" "6" "74331619" "74331619" "subst" "0.0232518" "01804" "SLC17A5_000035" "g.74331619C>T" "" "" "" "SLC17A5(NM_012434.4):c.886G>A (p.(Val296Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73621896C>T" "" "likely benign" ""
"0000529494" "0" "70" "6" "74345166" "74345166" "dup" "0" "01943" "SLC17A5_000036" "g.74345166dup" "" "" "" "SLC17A5(NM_012434.4):c.762dupA (p.H255Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73635443dup" "" "likely pathogenic" ""
"0000529495" "0" "30" "6" "74351579" "74351579" "subst" "0" "01943" "SLC17A5_000037" "g.74351579G>A" "" "" "" "SLC17A5(NM_012434.4):c.360C>T (p.I120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73641856G>A" "" "likely benign" ""
"0000529496" "0" "10" "6" "74351669" "74351669" "subst" "0.0872893" "01943" "SLC17A5_000038" "g.74351669A>G" "" "" "" "SLC17A5(NM_012434.4):c.292-22T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73641946A>G" "" "benign" ""
"0000529497" "0" "10" "6" "74363787" "74363787" "dup" "0" "01943" "SLC17A5_000039" "g.74363787dup" "" "" "" "SLC17A5(NM_012434.4):c.-174dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73654064dup" "" "benign" ""
"0000610437" "0" "30" "6" "74310100" "74310100" "subst" "0.00112104" "01943" "SLC17A5_000019" "g.74310100C>T" "" "" "" "SLC17A5(NM_012434.4):c.1324G>A (p.V442I), SLC17A5(NM_012434.5):c.1324G>A (p.V442I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73600377C>T" "" "likely benign" ""
"0000652038" "1" "30" "6" "74331619" "74331619" "subst" "0.0232518" "03575" "SLC17A5_000035" "g.74331619C>T" "109/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "109 heterozygous; {DB:CLININrs16883930}" "Germline" "" "rs16883930" "0" "" "" "g.73621896C>T" "" "likely benign" ""
"0000652039" "1" "90" "6" "74354306" "74354306" "subst" "0.000832487" "03575" "SLC17A5_000002" "g.74354306G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs80338794}" "Germline" "" "rs80338794" "0" "" "" "g.73644583G>A" "" "pathogenic" ""
"0000669931" "3" "30" "6" "74331619" "74331619" "subst" "0.0232518" "03575" "SLC17A5_000035" "g.74331619C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs16883930}" "Germline" "" "rs16883930" "0" "" "" "g.73621896C>T" "" "likely benign" ""
"0000677854" "0" "50" "6" "74320205" "74320205" "subst" "0.000154318" "01943" "SLC17A5_000040" "g.74320205C>T" "" "" "" "SLC17A5(NM_012434.4):c.1177G>A (p.V393I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000689790" "0" "90" "6" "74320243" "74320244" "del" "0.0000568579" "02327" "SLC17A5_000014" "g.74320243_74320244del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000689791" "0" "70" "6" "74345203" "74345203" "del" "0" "02327" "SLC17A5_000041" "g.74345203del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000689792" "0" "30" "6" "74363525" "74363525" "subst" "0.0008138" "01804" "SLC17A5_000042" "g.74363525C>T" "" "" "" "SLC17A5(NM_012434.4):c.85G>A (p.(Ala29Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000721056" "0" "50" "6" "74320132" "74320132" "subst" "0.0000852799" "01943" "SLC17A5_000043" "g.74320132A>G" "" "" "" "SLC17A5(NM_012434.4):c.1250T>C (p.I417T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000730067" "3" "90" "6" "74345183" "74345186" "del" "0" "00000" "SLC17A5_000044" "g.74345183_74345186del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_012434.4:c.744_747del:p.(Ser249Thrfs*21)" "" "Germline" "" "" "0" "" "" "g.73635460_73635463del" "" "likely pathogenic (recessive)" ""
"0000759808" "0" "90" "6" "74354305" "74354305" "subst" "0.00000812176" "03566" "SLC17A5_000017" "g.74354305C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.73644582C>T" "" "pathogenic" "ACMG"
"0000802698" "0" "50" "6" "74331663" "74331663" "subst" "0.00000812236" "01943" "SLC17A5_000045" "g.74331663G>A" "" "" "" "SLC17A5(NM_012434.4):c.842C>T (p.P281L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000802699" "0" "30" "6" "74345220" "74345220" "subst" "0.0000793595" "01943" "SLC17A5_000046" "g.74345220G>A" "" "" "" "SLC17A5(NM_012434.4):c.704C>T (p.T235I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000836989" "0" "70" "6" "74354305" "74354305" "subst" "0.00000812176" "02494" "SLC17A5_000017" "g.74354305C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (recessive)" ""
"0000836990" "21" "70" "6" "74331587" "74331587" "subst" "0.0000771831" "02494" "SLC17A5_000016" "g.74331587A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" ""
"0000860492" "0" "30" "6" "74310146" "74310146" "subst" "0.00000406154" "01943" "SLC17A5_000047" "g.74310146C>A" "" "" "" "SLC17A5(NM_012434.4):c.1278G>T (p.L426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860493" "0" "30" "6" "74331606" "74331606" "subst" "0.00119" "01804" "SLC17A5_000034" "g.74331606G>A" "" "" "" "SLC17A5(NM_012434.4):c.899C>T (p.S300F, p.(Ser300Phe))" "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 SLC17A5
## Count = 62
"{{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}}"
"0000016431" "00000286" "99" "95" "-1" "95" "-1" "c.95-1G>C" "r.95_291del" "p.Ala32Glyfs*2" "1i"
"0000016432" "00000286" "99" "115" "0" "115" "0" "c.115C>T" "r.115c>t" "p.Arg39Cys" "2"
"0000016433" "00000286" "77" "1226" "0" "1226" "0" "c.1226G>A" "r.1226g>a" "p.Gly409Glu" "9"
"0000016434" "00000286" "99" "291" "0" "291" "0" "c.291G>A" "r.95_291del" "p.Ala32Glyfs*2" "2"
"0000016435" "00000286" "99" "293" "0" "613" "1" "c.293_613+1del" "r.292_613del" "p.(Gly98Glufs*7)" "2i_4i"
"0000016436" "00000286" "99" "309" "0" "309" "0" "c.309G>A" "r.309g>a" "p.Trp103*" "3"
"0000016437" "00000286" "99" "406" "0" "406" "0" "c.406A>G" "r.406a>g" "p.Lys136Glu" "3"
"0000016438" "00000286" "99" "507" "0" "507" "0" "c.507del" "r.507dela" "p.(Leu170*)" "3"
"0000016439" "00000286" "99" "526" "0" "819" "0" "c.526_819del" "r.526_819del" "p.Gly176_Gln273del" "3i_6i"
"0000016440" "00000286" "99" "719" "0" "719" "0" "c.719G>A" "r.719g>a" "p.Trp240*" "6"
"0000016441" "00000286" "99" "802" "0" "816" "0" "c.802_816del" "r.802_816del" "p.Ser268_Asn272del" "6"
"0000016442" "00000286" "77" "983" "0" "983" "0" "c.983G>A" "r.983g>a" "p.Gly328Glu" "8"
"0000016443" "00000286" "99" "1007" "0" "1008" "0" "c.1007_1008del" "r.1007_1008delta" "p.Leu336Trpfs*14" "8"
"0000016444" "00000286" "99" "1138" "0" "1139" "0" "c.1138_1139del" "r.1138_1139delgt" "p.Val380Serfs*8" "9"
"0000039756" "00000286" "77" "500" "0" "500" "0" "c.500T>C" "r.(?)" "p.(Leu167Pro)" "3"
"0000039757" "00000286" "77" "918" "0" "918" "0" "c.918T>G" "r.(?)" "p.(Tyr306*)" "8"
"0000079546" "00000286" "00" "-2451640" "0" "597223" "0" "c.-2451640_*595735del" "r.0?" "p.0?" ""
"0000130123" "00000286" "70" "116" "0" "116" "0" "c.116G>A" "r.(?)" "p.(Arg39His)" ""
"0000298239" "00000286" "90" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Arg39Cys)" ""
"0000298240" "00000286" "30" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Val442Ile)" ""
"0000308232" "00000286" "90" "1111" "1" "1111" "1" "c.1111+1G>A" "r.spl?" "p.?" ""
"0000308233" "00000286" "10" "1111" "7" "1111" "7" "c.1111+7G>A" "r.(=)" "p.(=)" ""
"0000308234" "00000286" "90" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Arg39Cys)" ""
"0000308235" "00000286" "10" "1351" "-23" "1351" "-23" "c.1351-23G>A" "r.(=)" "p.(=)" ""
"0000308236" "00000286" "10" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(Ala82=)" ""
"0000308237" "00000286" "90" "507" "0" "507" "0" "c.507del" "r.(?)" "p.(Leu170Ter)" ""
"0000308238" "00000286" "90" "533" "0" "533" "0" "c.533del" "r.(?)" "p.(Thr178AsnfsTer34)" ""
"0000308239" "00000286" "10" "606" "0" "606" "0" "c.606A>G" "r.(?)" "p.(Ser202=)" ""
"0000308240" "00000286" "90" "719" "0" "719" "0" "c.719G>A" "r.(?)" "p.(Trp240Ter)" ""
"0000308241" "00000286" "90" "802" "0" "816" "0" "c.802_816del" "r.(?)" "p.(Ser268_Asn272del)" ""
"0000308242" "00000286" "30" "820" "-3" "820" "-3" "c.820-3C>T" "r.spl?" "p.?" ""
"0000331091" "00000286" "50" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Val161Ile)" ""
"0000441260" "00000286" "90" "291" "0" "291" "0" "c.291G>A" "r.spl?" "p.(Thr97=)" ""
"0000441261" "00000286" "90" "819" "1" "819" "1" "c.819+1G>A" "r.spl" "p.?" ""
"0000529486" "00000286" "50" "1259" "0" "1259" "0" "c.1259C>T" "r.(?)" "p.(Ser420Leu)" ""
"0000529487" "00000286" "50" "1192" "0" "1192" "0" "c.1192A>G" "r.(?)" "p.(Ile398Val)" ""
"0000529489" "00000286" "90" "990" "0" "990" "0" "c.990dup" "r.(?)" "p.(Ser331IlefsTer20)" ""
"0000529490" "00000286" "30" "957" "0" "957" "0" "c.957C>A" "r.(?)" "p.(Ile319=)" ""
"0000529491" "00000286" "50" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Ser300Phe)" ""
"0000529492" "00000286" "50" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Ser300Phe)" ""
"0000529493" "00000286" "30" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Val296Ile)" ""
"0000529494" "00000286" "70" "762" "0" "762" "0" "c.762dup" "r.(?)" "p.(His255ThrfsTer8)" ""
"0000529495" "00000286" "30" "360" "0" "360" "0" "c.360C>T" "r.(?)" "p.(Ile120=)" ""
"0000529496" "00000286" "10" "292" "-22" "292" "-22" "c.292-22T>C" "r.(=)" "p.(=)" ""
"0000529497" "00000286" "10" "-174" "0" "-174" "0" "c.-174dup" "r.(?)" "p.(=)" ""
"0000610437" "00000286" "30" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Val442Ile)" ""
"0000652038" "00000286" "30" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Val296Ile)" ""
"0000652039" "00000286" "90" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Arg39Cys)" ""
"0000669931" "00000286" "30" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Val296Ile)" ""
"0000677854" "00000286" "50" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Val393Ile)" ""
"0000689790" "00000286" "90" "1138" "0" "1139" "0" "c.1138_1139del" "r.(?)" "p.(Val380SerfsTer8)" ""
"0000689791" "00000286" "70" "723" "0" "723" "0" "c.723del" "r.(?)" "p.(Leu242PhefsTer6)" ""
"0000689792" "00000286" "30" "85" "0" "85" "0" "c.85G>A" "r.(?)" "p.(Ala29Thr)" ""
"0000721056" "00000286" "50" "1250" "0" "1250" "0" "c.1250T>C" "r.(?)" "p.(Ile417Thr)" ""
"0000730067" "00000286" "90" "738" "0" "741" "0" "c.738_741del" "r.(?)" "p.(Ser249Thrfs*21)" ""
"0000759808" "00000286" "90" "116" "0" "116" "0" "c.116G>A" "r.(?)" "p.(Arg39His)" ""
"0000802698" "00000286" "50" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" ""
"0000802699" "00000286" "30" "704" "0" "704" "0" "c.704C>T" "r.(?)" "p.(Thr235Ile)" ""
"0000836989" "00000286" "70" "116" "0" "116" "0" "c.116G>A" "r.(?)" "p.(Arg39His)" ""
"0000836990" "00000286" "70" "918" "0" "918" "0" "c.918T>G" "r.(?)" "p.(Tyr306*)" ""
"0000860492" "00000286" "30" "1278" "0" "1278" "0" "c.1278G>T" "r.(?)" "p.(Leu426=)" ""
"0000860493" "00000286" "30" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Ser300Phe)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}" "{{variantid}}"
"0000050566" "0000079546"
"0000081037" "0000130123"
"0000210090" "0000441260"
"0000210090" "0000441261"
"0000295349" "0000652038"
"0000295350" "0000652039"
"0000306243" "0000669931"
"0000332785" "0000730067"
"0000360109" "0000759808"
"0000402756" "0000836989"
"0000402756" "0000836990"