### 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" "00006" "2026-02-06 11:55:49" ## 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 = 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}}" "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" "" "" "" "" "00472203" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "M" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00100311" "05223" "00100312" "05223" "00100313" "05223" "00100314" "05223" "00100315" "05223" "00100316" "05223" "00292222" "00198" "00304681" "00198" "00472203" "05223" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01446, 05223 ## Count = 7 "{{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/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; ..." "" "" "" "" "" "" "" "" "" "" "0000357012" "05223" "00472203" "04653" "Isolated (sporadic)" "" "Laryngeal dystonia, Laryngospasm, Involuntary movements, Central hypotonia" "" "" "" "" "" "" "" "CMS20" "Congenital myastenic syndrome" "" ## 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}}" "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" "0000473873" "00472203" "1" "04653" "04653" "2026-01-15 16:20:56" "" "" "SEQ-NG-I" "DNA" "" "WGS" ## 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 = 54 "{{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, p.(Tyr238Cys))" "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" "" "0001050745" "0" "30" "2" "108618468" "108618468" "subst" "0.00291595" "01804" "SLC5A7_000015" "g.108618468A>G" "" "" "" "SLC5A7(NM_021815.5):c.713A>G (p.Y238C, p.(Tyr238Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050746" "0" "50" "2" "108626880" "108626880" "subst" "0.000109773" "01804" "SLC5A7_000041" "g.108626880G>A" "" "" "" "SLC5A7(NM_021815.5):c.1306G>A (p.(Val436Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062810" "21" "70" "2" "108625088" "108625088" "subst" "0" "04653" "SLC5A7_000042" "g.108625088G>A" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.108008632G>A" "" "likely pathogenic" "ACMG" "0001062811" "11" "70" "2" "108511458" "110618003" "del" "0" "04653" "SLC5A7_000043" "g.108511458_110618003del" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.107895002_109860426del" "" "likely pathogenic (recessive)" "ACMG" ## 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 = 54 "{{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.(=)" "" "0001050745" "00019027" "30" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Tyr238Cys)" "" "0001050746" "00019027" "50" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Val436Met)" "" "0001062810" "00019027" "70" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Ala355Thr)" "8" "0001062811" "00019027" "70" "-91813" "0" "1992429" "0" "c.-91813_*1990686del" "r.0" "p.0" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{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" "0000473873" "0001062810" "0000473873" "0001062811"