### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC5A7) # 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}}" "SLC5A7" "solute carrier family 5 (choline transporter), member 7" "2" "q12" "unknown" "NG_042267.1" "UD_136018774855" "" "https://www.LOVD.nl/SLC5A7" "" "1" "14025" "60482" "608761" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SLC5A7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-02-10 16:39:02" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00019027" "SLC5A7" "solute carrier family 5 (choline transporter), member 7" "001" "NM_021815.2" "" "NP_068587.1" "" "" "" "-276" "4865" "1743" "108602995" "108630439" "" "0000-00-00 00:00:00" "" "" ## 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" "01446" "HMN7A" "neuropathy, motor, distal, hereditary, type VIIA (HMN-7A)" "AD" "158580" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05223" "CMS20" "myasthenic syndrome, congenital, type 20, presynaptic (CMS-20)" "AR" "617143" "" "" "" "00006" "2017-02-10 16:34:12" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC5A7" "01446" "SLC5A7" "05223" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00100311" "" "" "" "1" "" "00006" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "M" "no" "France" "" "0" "" "" "" "" "00100312" "" "" "" "1" "" "00006" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "2-generation family, 1affected, unaffected heterozygous carrier parents" "M" "?" "Algeria" "" "0" "" "" "" "" "00100313" "" "" "" "2" "" "00006" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "" "00100314" "" "" "" "1" "" "00006" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "" "00100315" "" "" "" "1" "" "00006" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "2-generation family,1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "" "00100316" "" "" "" "1" "" "00006" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Romania" "" "0" "" "" "" "" "00292222" "" "" "" "236" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304681" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00100311" "05223" "00100312" "05223" "00100313" "05223" "00100314" "05223" "00100315" "05223" "00100316" "05223" "00292222" "00198" "00304681" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01446, 05223 ## Count = 6 "{{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}}" "0000078531" "05223" "00100311" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078532" "05223" "00100312" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078533" "05223" "00100313" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078534" "05223" "00100314" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078535" "05223" "00100315" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078536" "05223" "00100316" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100715" "00100311" "1" "00006" "00006" "2017-02-10 16:44:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100716" "00100312" "1" "00006" "00006" "2017-02-10 16:53:39" "00006" "2017-02-10 17:07:20" "SEQ" "DNA" "" "" "0000100717" "00100313" "1" "00006" "00006" "2017-02-10 17:03:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100718" "00100314" "1" "00006" "00006" "2017-02-10 17:23:27" "" "" "SEQ" "DNA" "" "" "0000100719" "00100315" "1" "00006" "00006" "2017-02-10 17:27:36" "" "" "SEQ" "DNA" "" "" "0000100720" "00100316" "1" "00006" "00006" "2017-02-10 17:31:24" "" "" "SEQ" "DNA" "" "" "0000293390" "00292222" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305810" "00304681" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000100715" "SLC5A7" "0000100716" "SLC5A7" "0000100717" "SLC5A7" "0000100718" "SLC5A7" "0000100719" "SLC5A7" "0000100720" "SLC5A7" ## 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 = 50 "{{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}}" "0000163069" "11" "90" "2" "108608577" "108608577" "subst" "0" "00006" "SLC5A7_000001" "g.108608577G>A" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}, {OMIM608761:0002}" "" "" "" "Germline" "yes" "rs886039765" "0" "" "" "g.107992121G>A" "" "pathogenic" "" "0000163070" "21" "90" "2" "108609448" "108609448" "subst" "0" "00006" "SLC5A7_000002" "g.108609448C>T" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}, {OMIM608761:0003}" "" "" "" "Germline" "yes" "rs886039766" "0" "" "" "g.107992992C>T" "" "pathogenic" "" "0000163072" "3" "90" "2" "108604754" "108604754" "subst" "0" "00006" "SLC5A7_000003" "g.108604754A>G" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}, {OMIM608761:0006}" "" "" "" "Germline" "yes" "rs886039768" "0" "" "" "g.107988298A>G" "" "pathogenic" "" "0000163073" "21" "90" "2" "108625107" "108625107" "subst" "4.07757E-6" "00006" "SLC5A7_000004" "g.108625107G>A" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}, {OMIM608761:0004}" "" "" "" "Germline" "yes" "rs147656110" "0" "" "" "g.108008651G>A" "" "pathogenic" "" "0000163074" "11" "90" "2" "108604734" "108604737" "del" "0" "00006" "SLC5A7_000005" "g.108604734_108604737del" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}, {OMIM608761:0005}" "" "" "" "Germline" "yes" "rs886039767" "0" "" "" "g.107988278_107988281del" "" "pathogenic" "" "0000163075" "1" "90" "2" "108614369" "108614369" "subst" "4.06197E-6" "00006" "SLC5A7_000006" "g.108614369A>G" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "" "" "" "Germline" "" "" "0" "" "" "g.107997913A>G" "" "pathogenic" "" "0000163076" "2" "90" "2" "108625055" "108625055" "subst" "0" "00006" "SLC5A7_000007" "g.108625055G>C" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "" "" "" "Germline" "" "" "0" "" "" "g.108008599G>C" "" "pathogenic" "" "0000163077" "1" "90" "2" "108609466" "108609466" "subst" "0" "00006" "SLC5A7_000008" "g.108609466T>C" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "" "" "" "Germline" "" "" "0" "" "" "g.107993010T>C" "" "pathogenic" "" "0000163078" "2" "90" "2" "108626826" "108626826" "subst" "0" "00006" "SLC5A7_000009" "g.108626826T>G" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "" "" "" "Germline" "" "" "0" "" "" "g.108010370T>G" "" "pathogenic" "" "0000163079" "1" "90" "2" "108622635" "108622635" "subst" "5.2803E-5" "00006" "SLC5A7_000010" "g.108622635T>C" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "" "" "" "Germline" "" "" "0" "" "" "g.108006179T>C" "" "pathogenic" "" "0000163080" "2" "90" "2" "108626910" "108626910" "subst" "0" "00006" "SLC5A7_000011" "g.108626910A>G" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "" "" "" "Germline" "" "" "0" "" "" "g.108010454A>G" "" "pathogenic" "" "0000163081" "0" "90" "2" "108608577" "108608577" "subst" "0" "00006" "SLC5A7_000001" "g.108608577G>A" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}, {OMIM608761:0002}" "" "" "cDNA expression cloning in HEK293T shows normal cell trafficking and significantly reduced (no) choline uptake" "In vitro (cloned)" "-" "" "0" "" "" "g.107992121G>A" "" "NA" "" "0000163082" "0" "90" "2" "108609448" "108609448" "subst" "0" "00006" "SLC5A7_000002" "g.108609448C>T" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}, {OMIM608761:0003}" "" "" "cDNA expression cloning in HEK293T shows normal cell trafficking and significantly reduced choline uptake" "In vitro (cloned)" "-" "" "0" "" "" "g.107992992C>T" "" "NA" "" "0000163083" "0" "90" "2" "108604754" "108604754" "subst" "0" "00006" "SLC5A7_000003" "g.108604754A>G" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}, {OMIM608761:0006}" "" "" "cDNA expression cloning in HEK293T shows normal cell trafficking and significantly reduced choline uptake" "In vitro (cloned)" "-" "" "0" "" "" "g.107988298A>G" "" "NA" "" "0000163084" "0" "90" "2" "108625107" "108625107" "subst" "4.07757E-6" "00006" "SLC5A7_000004" "g.108625107G>A" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}, {OMIM608761:0004}" "" "" "cDNA expression cloning in HEK293T shows normal cell trafficking and significantly reduced choline uptake" "In vitro (cloned)" "-" "" "0" "" "" "g.108008651G>A" "" "NA" "" "0000163085" "0" "90" "2" "108626910" "108626910" "subst" "0" "00006" "SLC5A7_000011" "g.108626910A>G" "" "{PMID:Bauche 2016:27569547}, {DOI:Bauche 2016:10.1016/j.ajhg.2016.06.033}" "" "" "cDNA expression cloning in HEK293T shows normal cell trafficking and significantly reduced choline uptake" "In vitro (cloned)" "-" "" "0" "" "" "g.108010454A>G" "" "NA" "" "0000245861" "0" "10" "2" "108608648" "108608648" "subst" "0.0925364" "02330" "SLC5A7_000012" "g.108608648A>G" "" "" "" "SLC5A7(NM_021815.5):c.265A>G (p.I89V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107992192A>G" "" "benign" "" "0000246086" "0" "30" "2" "108618468" "108618468" "subst" "0.00291595" "02330" "SLC5A7_000015" "g.108618468A>G" "" "" "" "SLC5A7(NM_021815.5):c.713A>G (p.Y238C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108002012A>G" "" "likely benign" "" "0000295944" "0" "10" "2" "108614331" "108614331" "subst" "0.000224188" "02330" "SLC5A7_000013" "g.108614331C>T" "" "" "" "SLC5A7(NM_021815.5):c.486C>T (p.H162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107997875C>T" "" "benign" "" "0000295945" "0" "30" "2" "108614456" "108614456" "subst" "3.8307E-5" "02330" "SLC5A7_000014" "g.108614456C>A" "" "" "" "SLC5A7(NM_021815.5):c.597+14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107998000C>A" "" "likely benign" "" "0000295946" "0" "10" "2" "108618514" "108618514" "subst" "0.122107" "02330" "SLC5A7_000016" "g.108618514C>T" "" "" "" "SLC5A7(NM_021815.5):c.741+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108002058C>T" "" "benign" "" "0000341316" "0" "50" "2" "108622563" "108622563" "subst" "4.06134E-6" "02327" "SLC5A7_000017" "g.108622563C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.108006107C>T" "" "VUS" "" "0000508858" "0" "50" "2" "108604730" "108604730" "subst" "2.43671E-5" "01804" "SLC5A7_000018" "g.108604730A>C" "" "" "" "SLC5A7(NM_021815.2):c.119A>C (p.(Glu40Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107988274A>C" "" "VUS" "" "0000606044" "0" "30" "2" "108604805" "108604805" "subst" "4.95025E-5" "02330" "SLC5A7_000019" "g.108604805G>C" "" "" "" "SLC5A7(NM_021815.5):c.178+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107988349G>C" "" "likely benign" "" "0000606045" "0" "30" "2" "108626674" "108626674" "subst" "0" "02330" "SLC5A7_000020" "g.108626674G>C" "" "" "" "SLC5A7(NM_021815.5):c.1114-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108010218G>C" "" "likely benign" "" "0000606046" "0" "30" "2" "108626811" "108626811" "subst" "0.000507891" "02330" "SLC5A7_000021" "g.108626811G>A" "" "" "" "SLC5A7(NM_021815.5):c.1237G>A (p.V413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.108010355G>A" "" "likely benign" "" "0000650079" "1" "10" "2" "108618514" "108618514" "subst" "0.122107" "03575" "SLC5A7_000016" "g.108618514C>T" "236/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "236 heterozygous; {DB:CLININrs3731684}" "Germline" "" "rs3731684" "0" "" "" "g.108002058C>T" "" "benign" "" "0000669498" "3" "10" "2" "108618514" "108618514" "subst" "0.122107" "03575" "SLC5A7_000016" "g.108618514C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs3731684}" "Germline" "" "rs3731684" "0" "" "" "g.108002058C>T" "" "benign" "" "0000688278" "0" "30" "2" "108622589" "108622589" "subst" "0.000755385" "02326" "SLC5A7_000022" "g.108622589C>T" "" "" "" "SLC5A7(NM_021815.5):c.826C>T (p.L276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717783" "0" "10" "2" "108604657" "108604657" "subst" "0.00178673" "02330" "SLC5A7_000023" "g.108604657C>T" "" "" "" "SLC5A7(NM_021815.5):c.46C>T (p.L16F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717784" "0" "50" "2" "108608612" "108608612" "subst" "8.12341E-6" "02329" "SLC5A7_000024" "g.108608612G>A" "" "" "" "SLC5A7(NM_021815.5):c.229G>A (p.V77I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799603" "0" "50" "2" "108609517" "108609517" "subst" "0" "02327" "SLC5A7_000025" "g.108609517G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848906" "0" "10" "2" "108603431" "108603431" "subst" "0" "02326" "SLC5A7_000027" "g.108603431A>G" "" "" "" "SLC5A7(NM_021815.5):c.-52+212A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848907" "0" "10" "2" "108618145" "108618145" "dup" "0" "02326" "SLC5A7_000028" "g.108618145dup" "" "" "" "SLC5A7(NM_021815.5):c.598-208dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848908" "0" "10" "2" "108622817" "108622818" "del" "0" "02326" "SLC5A7_000029" "g.108622817_108622818del" "" "" "" "SLC5A7(NM_021815.5):c.895+159_895+160delTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848909" "0" "10" "2" "108622855" "108622855" "del" "0" "02326" "SLC5A7_000030" "g.108622855del" "" "" "" "SLC5A7(NM_021815.5):c.895+197delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883689" "0" "50" "2" "108625131" "108625131" "del" "0" "02330" "SLC5A7_000031" "g.108625131del" "" "" "" "SLC5A7(NM_021815.5):c.1106delG (p.R369Nfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883690" "0" "50" "2" "108626821" "108626821" "subst" "0" "02330" "SLC5A7_000032" "g.108626821T>A" "" "" "" "SLC5A7(NM_021815.5):c.1247T>A (p.V416D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923270" "0" "50" "2" "108608560" "108608560" "subst" "0" "02330" "SLC5A7_000033" "g.108608560A>G" "" "" "" "SLC5A7(NM_021815.5):c.179-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923271" "0" "50" "2" "108622565" "108622565" "subst" "0" "02330" "SLC5A7_000034" "g.108622565A>G" "" "" "" "SLC5A7(NM_021815.5):c.802A>G (p.T268A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928252" "0" "70" "2" "108627094" "108627094" "subst" "0" "02330" "SLC5A7_000035" "g.108627094T>A" "" "" "" "SLC5A7(NM_021815.5):c.1520T>A (p.L507*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000961250" "0" "30" "2" "108614331" "108614331" "subst" "0.000224188" "02326" "SLC5A7_000013" "g.108614331C>T" "" "" "" "SLC5A7(NM_021815.5):c.486C>T (p.H162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961251" "0" "30" "2" "108614379" "108614379" "subst" "0" "02330" "SLC5A7_000036" "g.108614379G>A" "" "" "" "SLC5A7(NM_021815.5):c.534G>A (p.V178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974216" "0" "30" "2" "108604657" "108604657" "subst" "0.00178673" "02326" "SLC5A7_000023" "g.108604657C>T" "" "" "" "SLC5A7(NM_021815.5):c.46C>T (p.L16F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974217" "0" "30" "2" "108626819" "108626819" "subst" "0.00194598" "01804" "SLC5A7_000037" "g.108626819C>T" "" "" "" "SLC5A7(NM_021815.5):c.1245C>T (p.(Ile415=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991532" "0" "30" "2" "108608674" "108608674" "subst" "0" "01804" "SLC5A7_000038" "g.108608674A>C" "" "" "" "SLC5A7(NM_021815.2):c.291A>C (p.(Leu97Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013367" "0" "30" "2" "108609410" "108609410" "subst" "6.96367E-5" "02330" "SLC5A7_000039" "g.108609410C>G" "" "" "" "SLC5A7(NM_021815.5):c.293-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013368" "0" "50" "2" "108626811" "108626811" "subst" "0.000507891" "02325" "SLC5A7_000021" "g.108626811G>A" "" "" "" "SLC5A7(NM_021815.5):c.1237G>A (p.V413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013369" "0" "50" "2" "108626828" "108626828" "subst" "8.12526E-6" "02330" "SLC5A7_000026" "g.108626828C>A" "" "" "" "SLC5A7(NM_021815.5):c.1254C>A (p.F418L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045706" "0" "30" "2" "108609516" "108609516" "subst" "2.43647E-5" "02326" "SLC5A7_000040" "g.108609516C>T" "" "" "" "SLC5A7(NM_021815.5):c.381C>T (p.G127=)" "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 SLC5A7 ## Count = 50 "{{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}}" "0000163069" "00019027" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3" "0000163070" "00019027" "90" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Pro105Ser)" "4" "0000163072" "00019027" "90" "143" "0" "143" "0" "c.143A>G" "r.(?)" "p.(Asp48Gly)" "2" "0000163073" "00019027" "90" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.(Arg361Gln)" "8" "0000163074" "00019027" "90" "123" "0" "126" "0" "c.123_126del" "r.(?)" "p.(Ile42*)" "2" "0000163075" "00019027" "90" "524" "0" "524" "0" "c.524A>G" "r.(?)" "p.(Tyr175Cys)" "5" "0000163076" "00019027" "90" "1030" "0" "1030" "0" "c.1030G>C" "r.(?)" "p.(Val344Leu)" "8" "0000163077" "00019027" "90" "331" "0" "331" "0" "c.331T>C" "r.(?)" "p.(Tyr111His)" "4" "0000163078" "00019027" "90" "1252" "0" "1252" "0" "c.1252T>G" "r.(?)" "p.(Phe418Val)" "9" "0000163079" "00019027" "90" "872" "0" "872" "0" "c.872T>C" "r.(?)" "p.(Ile291Thr)" "7" "0000163080" "00019027" "90" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Arg446Gly)" "9" "0000163081" "00019027" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.Gly65Glu" "3" "0000163082" "00019027" "90" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.Pro105Ser" "4" "0000163083" "00019027" "90" "143" "0" "143" "0" "c.143A>G" "r.(?)" "p.Asp48Gly" "2" "0000163084" "00019027" "90" "1082" "0" "1082" "0" "c.1082G>A" "r.(?)" "p.Arg361Gln" "8" "0000163085" "00019027" "90" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.Arg446Gly" "9" "0000245861" "00019027" "10" "265" "0" "265" "0" "c.265A>G" "r.(?)" "p.(Ile89Val)" "" "0000246086" "00019027" "30" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Tyr238Cys)" "" "0000295944" "00019027" "10" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(His162=)" "" "0000295945" "00019027" "30" "597" "14" "597" "14" "c.597+14C>A" "r.(=)" "p.(=)" "" "0000295946" "00019027" "10" "741" "18" "741" "18" "c.741+18C>T" "r.(=)" "p.(=)" "" "0000341316" "00019027" "50" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "" "0000508858" "00019027" "50" "119" "0" "119" "0" "c.119A>C" "r.(?)" "p.(Glu40Ala)" "" "0000606044" "00019027" "30" "178" "16" "178" "16" "c.178+16G>C" "r.(=)" "p.(=)" "" "0000606045" "00019027" "30" "1114" "-14" "1114" "-14" "c.1114-14G>C" "r.(=)" "p.(=)" "" "0000606046" "00019027" "30" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Val413Ile)" "" "0000650079" "00019027" "10" "741" "18" "741" "18" "c.741+18C>T" "r.(=)" "p.(=)" "" "0000669498" "00019027" "10" "741" "18" "741" "18" "c.741+18C>T" "r.(=)" "p.(=)" "" "0000688278" "00019027" "30" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Leu276=)" "" "0000717783" "00019027" "10" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Leu16Phe)" "" "0000717784" "00019027" "50" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Val77Ile)" "" "0000799603" "00019027" "50" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Gly128Arg)" "" "0000848906" "00019027" "10" "-52" "212" "-52" "212" "c.-52+212A>G" "r.(=)" "p.(=)" "" "0000848907" "00019027" "10" "598" "-208" "598" "-208" "c.598-208dup" "r.(=)" "p.(=)" "" "0000848908" "00019027" "10" "895" "159" "895" "160" "c.895+159_895+160del" "r.(=)" "p.(=)" "" "0000848909" "00019027" "10" "895" "197" "895" "197" "c.895+197del" "r.(=)" "p.(=)" "" "0000883689" "00019027" "50" "1106" "0" "1106" "0" "c.1106del" "r.(?)" "p.(Arg369Asnfs*30)" "" "0000883690" "00019027" "50" "1247" "0" "1247" "0" "c.1247T>A" "r.(?)" "p.(Val416Asp)" "" "0000923270" "00019027" "50" "179" "-2" "179" "-2" "c.179-2A>G" "r.spl?" "p.?" "" "0000923271" "00019027" "50" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Thr268Ala)" "" "0000928252" "00019027" "70" "1520" "0" "1520" "0" "c.1520T>A" "r.(?)" "p.(Leu507*)" "" "0000961250" "00019027" "30" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(His162=)" "" "0000961251" "00019027" "30" "534" "0" "534" "0" "c.534G>A" "r.(?)" "p.(=)" "" "0000974216" "00019027" "30" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Leu16Phe)" "" "0000974217" "00019027" "30" "1245" "0" "1245" "0" "c.1245C>T" "r.(?)" "p.(=)" "" "0000991532" "00019027" "30" "291" "0" "291" "0" "c.291A>C" "r.(?)" "p.(Leu97Phe)" "" "0001013367" "00019027" "30" "293" "-18" "293" "-18" "c.293-18C>G" "r.(=)" "p.(=)" "" "0001013368" "00019027" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Val413Ile)" "" "0001013369" "00019027" "50" "1254" "0" "1254" "0" "c.1254C>A" "r.(?)" "p.(Phe418Leu)" "" "0001045706" "00019027" "30" "381" "0" "381" "0" "c.381C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000100715" "0000163069" "0000100715" "0000163070" "0000100716" "0000163072" "0000100717" "0000163073" "0000100717" "0000163074" "0000100718" "0000163075" "0000100718" "0000163076" "0000100719" "0000163077" "0000100719" "0000163078" "0000100720" "0000163079" "0000100720" "0000163080" "0000293390" "0000650079" "0000305810" "0000669498"