### LOVD-version 3000-260 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC5A5) # 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}}" "SLC5A5" "solute carrier family 5 (sodium iodide symporter), member 5" "19" "p13.11" "unknown" "NG_012930.1" "UD_132119170366" "" "https://www.LOVD.nl/SLC5A5" "" "1" "11040" "6528" "601843" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SLC5A5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-14 09:35:56" "00000" "2021-02-08 18:36:18" ## 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}}" "00019025" "SLC5A5" "solute carrier family 5 (sodium iodide symporter), member 5" "001" "NM_000453.2" "" "NP_000444.1" "" "" "" "-347" "3229" "1932" "17982782" "18005983" "" "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" "2016-10-22 17:54:40" "02096" "TDH1" "thyroid dyshormonogenesis, type 1 (TDH1)" "AR" "274400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-14 09:37:54" "05659" "TDH" "thyroid dyshormonogenesis (TDH)" "" "" "" "" "" "00006" "2019-10-15 02:53:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC5A5" "02096" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00292064" "" "" "" "183" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304649" "" "" "" "6" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00311015" "" "" "" "1" "00006" "{PMID:Fujiwara 1997:9171822}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Japan" "" "0" "" "" "" "FamPatII1" "00311017" "" "" "" "1" "00006" "{PMID:Matsuda 1997:9398697}" "4-generation family, 1 affected, unaffected parents" "M" "yes" "Japan" "" "0" "" "" "" "patient" "00311019" "" "" "" "1" "00006" "{PMID:Pohlenz 1997:9388506}" "3-generation family, 1 affected, unaffected heterozygous carrier mother/son" "M" "" "Brazil" "" "0" "" "" "" "patient" "00311021" "" "" "" "1" "00006" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "{PMID:Pohlenz 1998:9486973}" "F" "no" "" "" "0" "" "" "mexico, Hispanic" "patient" "00311024" "" "" "" "1" "00006" "{PMID:Kosugi 1998:9745458}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "FamAPat1" "00311025" "" "" "" "1" "00006" "{PMID:Kosugi 1998:9745458}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "FamBPat2" "00311027" "" "" "" "16" "00006" "{PMID:Kosugi 1999:10487695}" "large 6-generation family, 16 affected (11F, 5M)" "F;M" "yes" "Canada" "" "0" "" "" "Hutterite" "family" "00311032" "" "" "" "2" "00006" "{PMID:Kosugi 2002:12161518}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier mother/relatives" "F;M" "" "Spain" "" "0" "" "" "" "Family" "00311050" "" "" "" "1" "00006" "{PMID:Tonacchera 2003:14510914}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "patient" "00311053" "" "" "" "1" "00006" "{PMID:Montanelli 2009:19916865}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "Italy" "" "0" "" "" "" "patient" "00311054" "" "" "" "1" "00006" "{PMID:Szinnai 2006:16418213}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Cameroon" "" "0" "" "" "" "patient" "00311057" "" "" "" "1" "00006" "{PMID:Fujiwara 2000:10907989}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents" "F;M" "?" "Japan" "" "0" "" "" "" "family" "00311058" "" "" "" "1" "00006" "{PMID:Nicola 2011:21565787}" "2-generation family, 1 affected, unaffected heterozygous carrier mother/relatives" "M" "" "Argentina" "" "0" "" "" "" "patient" "00311059" "" "" "" "1" "00006" "{PMID:Liang 2005:16253762}" "" "" "" "Taiwan" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00292064" "00198" "00304649" "00198" "00311015" "05659" "00311017" "05659" "00311019" "05659" "00311021" "05659" "00311024" "05659" "00311025" "05659" "00311027" "05659" "00311032" "05659" "00311050" "05659" "00311053" "05659" "00311054" "05659" "00311057" "05659" "00311058" "05659" "00311059" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02096, 05659 ## Count = 13 "{{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}}" "0000236284" "05659" "00311015" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "TDH1" "congenital hypothyroidism" "" "0000236285" "05659" "00311017" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "TDH1" "congenital hypothyroidism" "" "0000236286" "05659" "00311019" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "TDH1" "congenital hypothyroidism" "" "0000236287" "05659" "00311021" "00006" "Familial, autosomal recessive" "12y" "see paper; ..." "" "" "" "" "" "" "" "" "TDH1" "congenital hypothyroidism" "" "0000236288" "05659" "00311024" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "TDH1" "congenital hypothyroidism" "" "0000236290" "05659" "00311025" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "TDH1" "congenital hypothyroidism" "" "0000236296" "05659" "00311032" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "TDH1" "congenital hypothyroidism" "" "0000236314" "05659" "00311050" "00006" "Familial, autosomal recessive" "28y" "see paper; ..." "" "" "" "" "" "" "" "" "TDH1" "congenital hypothyroidism" "" "0000236315" "05659" "00311053" "00006" "Familial, autosomal recessive" "16y" "see paper; ..." "" "" "" "" "" "" "" "" "TDH1" "congenital hypothyroidism" "" "0000236318" "05659" "00311054" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "TDH1" "congenital hypothyroidism" "" "0000236320" "05659" "00311057" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "TDH1" "developmental retardation" "" "0000236322" "05659" "00311058" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "TDH1" "congenital hypothyroidism" "" "0000236324" "00198" "00311059" "00006" "-" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thyroid tumor" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293232" "00292064" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305778" "00304649" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000312167" "00311015" "1" "00006" "00006" "2020-09-14 09:44:55" "00006" "2020-09-14 09:47:10" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000312169" "00311017" "1" "00006" "00006" "2020-09-14 09:53:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000312171" "00311019" "1" "00006" "00006" "2020-09-14 09:58:41" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000312173" "00311021" "1" "00006" "00006" "2020-09-14 10:04:25" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000312175" "00311024" "1" "00006" "00006" "2020-09-14 10:16:58" "" "" "SEQ" "DNA" "" "" "0000312177" "00311025" "1" "00006" "00006" "2020-09-14 10:20:49" "" "" "SEQ" "DNA" "" "" "0000312178" "00311027" "1" "00006" "00006" "2020-09-14 10:26:11" "" "" "SEQ" "DNA" "" "" "0000312185" "00311032" "1" "00006" "00006" "2020-09-14 10:32:08" "" "" "SEQ" "DNA" "" "" "0000312202" "00311050" "1" "00006" "00006" "2020-09-14 13:11:47" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000312203" "00311053" "1" "00006" "00006" "2020-09-14 13:29:36" "" "" "SEQ" "DNA" "" "" "0000312206" "00311054" "1" "00006" "00006" "2020-09-14 13:37:26" "" "" "SEQ" "DNA" "" "" "0000312208" "00311057" "1" "00006" "00006" "2020-09-14 13:43:38" "" "" "SEQ" "DNA" "" "" "0000312210" "00311058" "1" "00006" "00006" "2020-09-14 13:49:43" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000312211" "00311059" "1" "00006" "00006" "2020-09-14 14:04:11" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000312167" "SLC5A5" "0000312169" "SLC5A5" "0000312171" "SLC5A5" "0000312173" "SLC5A5" "0000312175" "SLC5A5" "0000312177" "SLC5A5" "0000312178" "SLC5A5" "0000312185" "SLC5A5" "0000312202" "SLC5A5" "0000312203" "SLC5A5" "0000312206" "SLC5A5" "0000312208" "SLC5A5" "0000312210" "SLC5A5" "0000312211" "SLC5A5" ## 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 = 47 "{{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}}" "0000247576" "0" "10" "19" "17994573" "17994573" "subst" "0.00964712" "02330" "SLC5A5_000006" "g.17994573A>C" "" "" "" "SLC5A5(NM_000453.2):c.1326A>C (p.T442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17883764A>C" "" "benign" "" "0000247601" "0" "10" "19" "17994594" "17994594" "subst" "0.0093941" "02330" "SLC5A5_000007" "g.17994594A>G" "" "" "" "SLC5A5(NM_000453.2):c.1329+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17883785A>G" "" "benign" "" "0000295933" "0" "10" "19" "17994642" "17994642" "subst" "0.00157791" "02330" "SLC5A5_000008" "g.17994642G>T" "" "" "" "SLC5A5(NM_000453.2):c.1330-17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17883833G>T" "" "benign" "" "0000295934" "0" "10" "19" "17994836" "17994836" "subst" "0.00362098" "02330" "SLC5A5_000009" "g.17994836G>A" "" "" "" "SLC5A5(NM_000453.2):c.1507G>A (p.D503N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17884027G>A" "" "benign" "" "0000295935" "0" "30" "19" "17994846" "17994846" "subst" "0.00013107" "02330" "SLC5A5_000010" "g.17994846G>C" "" "" "" "SLC5A5(NM_000453.2):c.1517G>C (p.R506T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17884037G>C" "" "likely benign" "" "0000295936" "0" "10" "19" "17999239" "17999239" "subst" "0.0246359" "02330" "SLC5A5_000011" "g.17999239C>T" "" "" "" "SLC5A5(NM_000453.2):c.1626C>T (p.C542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17888430C>T" "" "benign" "" "0000295937" "0" "10" "19" "17999245" "17999245" "subst" "0.00388066" "02330" "SLC5A5_000012" "g.17999245C>G" "" "" "" "SLC5A5(NM_000453.2):c.1632C>G (p.A544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17888436C>G" "" "benign" "" "0000295938" "0" "10" "19" "18001686" "18001686" "subst" "0.179756" "02330" "SLC5A5_000013" "g.18001686G>A" "" "" "" "SLC5A5(NM_000453.2):c.1652-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17890877G>A" "" "benign" "" "0000295939" "0" "50" "19" "18001707" "18001707" "subst" "0.0000163717" "02330" "SLC5A5_000014" "g.18001707G>A" "" "" "" "SLC5A5(NM_000453.2):c.1664G>A (p.R555H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17890898G>A" "" "VUS" "" "0000295940" "0" "10" "19" "17985291" "17985291" "subst" "0.00146619" "02330" "SLC5A5_000001" "g.17985291C>A" "" "" "" "SLC5A5(NM_000453.2):c.424-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17874482C>A" "" "benign" "" "0000295941" "0" "50" "19" "17985350" "17985350" "subst" "0.0000162434" "02330" "SLC5A5_000002" "g.17985350C>A" "" "" "" "SLC5A5(NM_000453.2):c.471C>A (p.N157K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17874541C>A" "" "VUS" "" "0000295942" "0" "10" "19" "17988683" "17988683" "subst" "0.00796507" "02330" "SLC5A5_000003" "g.17988683C>T" "" "" "" "SLC5A5(NM_000453.2):c.839+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17877874C>T" "" "benign" "" "0000295943" "0" "10" "19" "17988794" "17988794" "subst" "0.00462002" "02330" "SLC5A5_000004" "g.17988794C>T" "" "" "" "SLC5A5(NM_000453.2):c.861C>T (p.V287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17877985C>T" "" "benign" "" "0000298321" "0" "10" "19" "18001686" "18001686" "subst" "0.179756" "02325" "SLC5A5_000013" "g.18001686G>A" "" "" "" "SLC5A5(NM_000453.2):c.1652-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17890877G>A" "" "benign" "" "0000308476" "0" "50" "19" "17988795" "17988795" "subst" "0.000533175" "01943" "SLC5A5_000005" "g.17988795G>A" "" "" "" "SLC5A5(NM_000453.2):c.862G>A (p.G288S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17877986G>A" "" "VUS" "" "0000566594" "0" "10" "19" "17983503" "17983503" "subst" "0.0066202" "02330" "SLC5A5_000015" "g.17983503G>T" "" "" "" "SLC5A5(NM_000453.2):c.357+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17872694G>T" "" "benign" "" "0000566595" "0" "10" "19" "17986763" "17986763" "subst" "0.00409916" "02330" "SLC5A5_000016" "g.17986763C>T" "" "" "" "SLC5A5(NM_000453.2):c.546C>T (p.G182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17875954C>T" "" "benign" "" "0000566596" "0" "10" "19" "17988685" "17988685" "subst" "0.000373674" "02330" "SLC5A5_000017" "g.17988685G>A" "" "" "" "SLC5A5(NM_000453.2):c.839+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17877876G>A" "" "benign" "" "0000566597" "0" "10" "19" "17991770" "17991770" "subst" "0.00751588" "02330" "SLC5A5_000018" "g.17991770C>T" "" "" "" "SLC5A5(NM_000453.2):c.1058+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17880961C>T" "" "benign" "" "0000566598" "0" "10" "19" "17994644" "17994644" "subst" "0.00486598" "02330" "SLC5A5_000019" "g.17994644C>T" "" "" "" "SLC5A5(NM_000453.2):c.1330-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17883835C>T" "" "benign" "" "0000566599" "0" "10" "19" "17994645" "17994645" "subst" "0.0000183817" "02330" "SLC5A5_000020" "g.17994645G>T" "" "" "" "SLC5A5(NM_000453.2):c.1330-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17883836G>T" "" "benign" "" "0000566600" "0" "30" "19" "17994689" "17994689" "subst" "0" "01804" "SLC5A5_000021" "g.17994689G>A" "" "" "" "SLC5A5(NM_000453.2):c.1360G>A (p.(Ala454Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17883880G>A" "" "likely benign" "" "0000566601" "0" "30" "19" "17994747" "17994747" "subst" "0.000132074" "01804" "SLC5A5_000022" "g.17994747T>C" "" "" "" "SLC5A5(NM_000453.2):c.1418T>C (p.(Met473Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17883938T>C" "" "likely benign" "" "0000617458" "0" "10" "19" "17985453" "17985454" "ins" "0.00103557" "02330" "SLC5A5_000023" "g.17985453_17985454insCCTAAC" "" "" "" "SLC5A5(NM_000453.2):c.476-20_476-19insCCTAAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17874644_17874645insCCTAAC" "" "benign" "" "0000617459" "0" "10" "19" "17985454" "17985454" "subst" "0.00103151" "02330" "SLC5A5_000024" "g.17985454G>A" "" "" "" "SLC5A5(NM_000453.2):c.476-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17874645G>A" "" "benign" "" "0000617460" "0" "10" "19" "17986889" "17986889" "subst" "0.0000568699" "02330" "SLC5A5_000025" "g.17986889G>A" "" "" "" "SLC5A5(NM_000453.2):c.672G>A (p.Q224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17876080G>A" "" "benign" "" "0000617461" "0" "50" "19" "17988795" "17988795" "subst" "0.000533175" "02330" "SLC5A5_000005" "g.17988795G>A" "" "" "" "SLC5A5(NM_000453.2):c.862G>A (p.G288S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17877986G>A" "" "VUS" "" "0000649921" "1" "50" "19" "17999239" "17999239" "subst" "0.0246359" "03575" "SLC5A5_000011" "g.17999239C>T" "183/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "183 heterozygous; {DB:CLININrs45602038}" "Germline" "" "rs45602038" "0" "" "" "g.17888430C>T" "" "VUS" "" "0000669466" "3" "50" "19" "17999239" "17999239" "subst" "0.0246359" "03575" "SLC5A5_000011" "g.17999239C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs45602038}" "Germline" "" "rs45602038" "0" "" "" "g.17888430C>T" "" "VUS" "" "0000687719" "3" "90" "19" "17992770" "17992770" "subst" "0.0000121925" "00006" "SLC5A5_000026" "g.17992770A>C" "" "{PMID:Fujiwara 1997:9171822}" "" "T354P" "" "Germline" "" "rs121909174" "0" "" "" "" "{CVrcv:RCV000008103}" "pathogenic (recessive)" "" "0000687721" "3" "90" "19" "17992770" "17992770" "subst" "0.0000121925" "00006" "SLC5A5_000026" "g.17992770A>C" "" "{PMID:Matsuda 1997:9398697}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687723" "3" "90" "19" "17988649" "17988649" "subst" "0" "00006" "SLC5A5_000027" "g.17988649C>A" "" "{PMID:Pohlenz 1997:9388506}" "" "C1163A (C272X)" "" "Germline" "" "rs121909175" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687725" "11" "90" "19" "17988632" "17988632" "subst" "0.0000852743" "00006" "SLC5A5_000028" "g.17988632C>G" "" "{PMID:Pohlenz 1998:9486973}" "" "Q267E" "" "Germline" "" "rs121909176" "0" "" "" "" "{CVrcv:RCV000008105}" "pathogenic (recessive)" "" "0000687727" "21" "90" "19" "17999206" "17999206" "subst" "0.0000568759" "00006" "SLC5A5_000029" "g.17999206C>G" "" "{PMID:Pohlenz 1998:9486973}" "" "" "" "Germline" "" "rs121909177" "0" "" "" "" "{CVrcv:RCV000008106}" "pathogenic (recessive)" "" "0000687728" "21" "90" "19" "17992770" "17992770" "subst" "0.0000121925" "00006" "SLC5A5_000026" "g.17992770A>C" "" "{PMID:Kosugi 1998:9745458}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687729" "11" "90" "19" "17983405" "17983405" "subst" "0" "00006" "SLC5A5_000030" "g.17983405G>C" "" "{PMID:Kosugi 1998:9745458}" "" "G93R" "" "Germline" "" "rs121909178" "0" "" "" "" "{CVrcv:RCV000008107}" "pathogenic (recessive)" "" "0000687731" "3" "90" "19" "17999241" "17999241" "subst" "0" "00006" "SLC5A5_000031" "g.17999241G>A" "" "{PMID:Kosugi 1998:9745458}" "" "G543E" "" "Germline" "" "rs121909179" "0" "" "" "" "{CVrcv:RCV000008108}" "pathogenic (recessive)" "" "0000687734" "3" "90" "19" "17992969" "17992969" "subst" "0.0000406098" "00006" "SLC5A5_000032" "g.17992969G>A" "" "{PMID:Kosugi 1999:10487695}" "" "1530G>A (G395R)" "" "Germline" "yes" "rs121909180" "0" "" "" "" "{CVrcv:RCV000008109}" "pathogenic (recessive)" "" "0000687751" "3" "90" "19" "17985321" "17991512" "delins" "0" "00006" "SLC5A5_000033" "g.17985321_17991512delins17986781_17987211inv" "" "{PMID:Kosugi 2002:12161518}" "" "" "" "Germline" "yes" "" "0" "" "" "" "{CVrcv:RCV000008110}" "pathogenic (recessive)" "" "0000687759" "3" "90" "19" "17994561" "17994575" "delins" "0" "00006" "SLC5A5_000034" "g.17994561_17994575delins17994578_17994587" "" "{PMID:Tonacchera 2003:14510914}" "" "" "" "Germline" "" "" "0" "" "" "g.17994563_17994574del" "" "pathogenic (recessive)" "" "0000687760" "3" "90" "19" "17992992" "17992997" "del" "0" "00006" "SLC5A5_000035" "g.17992992_17992997del" "" "{PMID:Montanelli 2009:19916865}" "" "1206-1211delGTCGGC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687762" "3" "90" "19" "17984960" "17984960" "subst" "0.0000325937" "00006" "SLC5A5_000036" "g.17984960G>A" "" "{PMID:Szinnai 2006:16418213}" "" "718G>A (R124H)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687764" "11" "90" "19" "17983304" "17983304" "subst" "0" "00006" "SLC5A5_000037" "g.17983304T>A" "" "{PMID:Fujiwara 2000:10907989}" "" "V59E" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687766" "21" "90" "19" "17992770" "17992770" "subst" "0.0000121925" "00006" "SLC5A5_000026" "g.17992770A>C" "" "{PMID:Fujiwara 2000:10907989}" "" "T354P" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687768" "3" "70" "19" "17983075" "17983075" "subst" "0" "00006" "SLC5A5_000038" "g.17983075C>T" "" "{PMID:Nicola 2011:21565787}" "" "" "variant does not affect transcription efficiency or mRNA stability, reduced translation" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000687769" "0" "90" "19" "0" "0" "" "0" "00006" "SLC5A5_000039" "g.(17986916_17988772)?" "" "{PMID:Liang 2005:16253762}" "" "" "" "Somatic" "-" "" "0" "" "" "" "" "pathogenic" "" "0000727211" "0" "30" "19" "17986859" "17986859" "subst" "0.0000325016" "02330" "SLC5A5_000040" "g.17986859C>T" "" "" "" "SLC5A5(NM_000453.2):c.642C>T (p.G214=)" "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 SLC5A5 ## Count = 47 "{{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}}" "0000247576" "00019025" "10" "1326" "0" "1326" "0" "c.1326A>C" "r.(?)" "p.(Thr442=)" "" "0000247601" "00019025" "10" "1329" "18" "1329" "18" "c.1329+18A>G" "r.(=)" "p.(=)" "" "0000295933" "00019025" "10" "1330" "-17" "1330" "-17" "c.1330-17G>T" "r.(=)" "p.(=)" "" "0000295934" "00019025" "10" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Asp503Asn)" "" "0000295935" "00019025" "30" "1517" "0" "1517" "0" "c.1517G>C" "r.(?)" "p.(Arg506Thr)" "" "0000295936" "00019025" "10" "1626" "0" "1626" "0" "c.1626C>T" "r.(?)" "p.(Cys542=)" "" "0000295937" "00019025" "10" "1632" "0" "1632" "0" "c.1632C>G" "r.(?)" "p.(Ala544=)" "" "0000295938" "00019025" "10" "1652" "-9" "1652" "-9" "c.1652-9G>A" "r.(=)" "p.(=)" "" "0000295939" "00019025" "50" "1664" "0" "1664" "0" "c.1664G>A" "r.(?)" "p.(Arg555His)" "" "0000295940" "00019025" "10" "424" "-12" "424" "-12" "c.424-12C>A" "r.(=)" "p.(=)" "" "0000295941" "00019025" "50" "471" "0" "471" "0" "c.471C>A" "r.(?)" "p.(Asn157Lys)" "" "0000295942" "00019025" "10" "839" "11" "839" "11" "c.839+11C>T" "r.(=)" "p.(=)" "" "0000295943" "00019025" "10" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Val287=)" "" "0000298321" "00019025" "10" "1652" "-9" "1652" "-9" "c.1652-9G>A" "r.(=)" "p.(=)" "" "0000308476" "00019025" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Gly288Ser)" "" "0000566594" "00019025" "10" "357" "18" "357" "18" "c.357+18G>T" "r.(=)" "p.(=)" "" "0000566595" "00019025" "10" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Gly182=)" "" "0000566596" "00019025" "10" "839" "13" "839" "13" "c.839+13G>A" "r.(=)" "p.(=)" "" "0000566597" "00019025" "10" "1058" "8" "1058" "8" "c.1058+8C>T" "r.(=)" "p.(=)" "" "0000566598" "00019025" "10" "1330" "-15" "1330" "-15" "c.1330-15C>T" "r.(=)" "p.(=)" "" "0000566599" "00019025" "10" "1330" "-14" "1330" "-14" "c.1330-14G>T" "r.(=)" "p.(=)" "" "0000566600" "00019025" "30" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "0000566601" "00019025" "30" "1418" "0" "1418" "0" "c.1418T>C" "r.(?)" "p.(Met473Thr)" "" "0000617458" "00019025" "10" "476" "-20" "476" "-19" "c.476-20_476-19insCCTAAC" "r.(=)" "p.(=)" "" "0000617459" "00019025" "10" "476" "-19" "476" "-19" "c.476-19G>A" "r.(=)" "p.(=)" "" "0000617460" "00019025" "10" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Gln224=)" "" "0000617461" "00019025" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Gly288Ser)" "" "0000649921" "00019025" "50" "1626" "0" "1626" "0" "c.1626C>T" "r.(?)" "p.(Cys542=)" "" "0000669466" "00019025" "50" "1626" "0" "1626" "0" "c.1626C>T" "r.(=)" "p.(=)" "" "0000687719" "00019025" "90" "1060" "0" "1060" "0" "c.1060A>C" "r.(?)1060a>c" "p.Thr354Pro" "" "0000687721" "00019025" "90" "1060" "0" "1060" "0" "c.1060A>C" "r.1060a>c" "p.Thr354Pro" "" "0000687723" "00019025" "90" "816" "0" "816" "0" "c.816C>A" "r.816c>a" "p.Cys272*" "" "0000687725" "00019025" "90" "799" "0" "799" "0" "c.799C>G" "r.799c>g" "p.Gln267Glu" "" "0000687727" "00019025" "90" "1593" "0" "1593" "0" "c.1593C>G" "r.[1527_1593del,1593c>g]" "p.[Ser509Argfs*7,Tyr531*]" "" "0000687728" "00019025" "90" "1060" "0" "1060" "0" "c.1060A>C" "r.(?)" "p.(Thr354Pro)" "" "0000687729" "00019025" "90" "277" "0" "277" "0" "c.277G>C" "r.(?)" "p.(Gly93Arg)" "" "0000687731" "00019025" "90" "1628" "0" "1628" "0" "c.1628G>A" "r.(?)" "p.(Gly543Glu)" "" "0000687734" "00019025" "90" "1183" "0" "1183" "0" "c.1183G>A" "r.(?)" "p.(Gly395Arg)" "" "0000687751" "00019025" "90" "442" "0" "970" "-162" "c.442_970-162delins564_698+296inv" "r.(424_969del)" "p.(Met142_Gln323del)" "2i_7i" "0000687759" "00019025" "90" "1316" "0" "1327" "0" "c.1316_1327delins1329+2_1329+11" "r.1316_1330del" "p.Ala439_Pro443del" "" "0000687760" "00019025" "90" "1206" "0" "1211" "0" "c.1206_1211del" "r.(?)" "p.(Ala403_Leu404del)" "" "0000687762" "00019025" "90" "371" "0" "371" "0" "c.371G>A" "r.(?)" "p.(Arg124His)" "" "0000687764" "00019025" "90" "176" "0" "176" "0" "c.176T>A" "r.(?)" "p.(Val59Glu)" "" "0000687766" "00019025" "90" "1060" "0" "1060" "0" "c.1060A>C" "r.(?)" "p.(Thr354Pro)" "" "0000687768" "00019025" "70" "-54" "0" "-54" "0" "c.-54C>T" "r.54c>u" "p.0" "" "0000687769" "00019025" "90" "0" "0" "0" "0" "c.(698+1_840-1)?" "r.699_839del" "p.Asp233_Leu280delinsGlu" "" "0000727211" "00019025" "30" "642" "0" "642" "0" "c.642C>T" "r.(?)" "p.(Gly214=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000293232" "0000649921" "0000305778" "0000669466" "0000312167" "0000687719" "0000312169" "0000687721" "0000312171" "0000687723" "0000312173" "0000687725" "0000312173" "0000687727" "0000312175" "0000687728" "0000312175" "0000687729" "0000312177" "0000687731" "0000312178" "0000687734" "0000312185" "0000687751" "0000312202" "0000687759" "0000312203" "0000687760" "0000312206" "0000687762" "0000312208" "0000687764" "0000312208" "0000687766" "0000312210" "0000687768" "0000312211" "0000687769"