### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC30A10) # 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}}" "SLC30A10" "solute carrier family 30, member 10" "1" "q41" "unknown" "NG_032153.1" "UD_132319251957" "" "https://www.LOVD.nl/SLC30A10" "" "1" "25355" "55532" "611146" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/SLC30A10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-03-09 00:00:00" "00006" "2017-07-05 17:06:47" "00000" "2023-01-11 15:44:22" ## 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}}" "00019268" "SLC30A10" "solute carrier family 30, member 10" "001" "NM_018713.2" "" "NP_061183.2" "" "" "" "-211" "2643" "1458" "220101993" "220087606" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03298" "HMNDYT1" "Hypermanganesemia with dystonia 1" "AR" "613280" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC30A10" "03298" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00107794" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 2y" "F" "yes" "Yemen" "" "0" "" "" "Arabic" "" "00107795" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 2y" "F" "yes" "Yemen" "" "0" "" "" "Arabic" "" "00107796" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 2y" "F" "yes" "Yemen" "" "0" "" "" "Arabic" "" "00107797" "" "" "" "1" "" "00006" "{PMID:Brna 2011:21596707}; {PMID:Sahni 2007:18087599}" "Age at presentation: 4y" "F" "no" "Canada" "" "0" "" "" "Arcadian" "" "00107798" "" "" "" "1" "" "00006" "{PMID:Tuschl 2008:18392750}" "Age at presentation: 2y, died at 18y because of complications of cirrhosis" "M" "yes" "United Arab Emirates" "" "0" "" "" "Arabic" "" "00107799" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 11y" "F" "yes" "United Arab Emirates" "" "0" "" "" "Arabic" "" "00107800" "" "" "" "1" "" "00006" "{PMID:Gospe 2000:11040156}" "Age at presentation: 14y" "M" "no" "United States" "" "0" "" "" "white" "" "00107801" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 3y" "F" "yes" "Pakistan" "" "0" "" "" "Punjabi" "" "00107802" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 3y" "F" "yes" "Pakistan" "" "0" "" "" "Punjabi" "" "00107803" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 5y" "M" "yes" "Pakistan" "" "0" "" "" "Punjabi" "" "00107804" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 5y" "M" "yes" "Pakistan" "" "0" "" "" "Punjabi" "" "00107805" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 11y" "F" "no" "Philippines" "" "0" "" "" "Indo_Malay" "" "00107806" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 2y, died at 25y because of complications of cirrhosis" "M" "yes" "Brazil" "" "0" "" "" "Portuguese/Amerindian" "" "00107807" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 3y" "F" "yes" "Brazil" "" "0" "" "" "Portuguese/Amerindian" "" "00107808" "" "" "" "1" "" "00006" "{PMID:Tuschl 2012:22341972}" "Age at presentation: 5y" "F" "no" "India" "" "0" "" "" "Punjabi" "" "00390427" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001037" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00107794" "03298" "00107795" "03298" "00107796" "03298" "00107797" "03298" "00107798" "03298" "00107799" "03298" "00107800" "03298" "00107801" "03298" "00107802" "03298" "00107803" "03298" "00107804" "03298" "00107805" "03298" "00107806" "03298" "00107807" "03298" "00107808" "03298" "00390427" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03298, 04214 ## Count = 16 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000085557" "03298" "00107794" "00006" "Familial, autosomal recessive" "12y" "dystonia; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085558" "03298" "00107795" "00006" "Familial, autosomal recessive" "08y" "dystonia; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085559" "03298" "00107796" "00006" "Familial, autosomal recessive" "04y" "dystonia; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085560" "03298" "00107797" "00006" "Familial, autosomal recessive" "12y" "dystonia; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085561" "03298" "00107798" "00006" "Familial, autosomal recessive" "18y" "dystonia, hepatomegaly, hepatic cirrhosis; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085562" "03298" "00107799" "00006" "Familial, autosomal recessive" "21y" "dystonia, hepatomegaly, hepatic cirrhosis; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085563" "03298" "00107800" "00006" "Familial, autosomal recessive" "37y" "spastic paraparesis, hepatomegaly, hepatic cirrhosis; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085564" "03298" "00107801" "00006" "Familial, autosomal recessive" "18y" "dystonia; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085565" "03298" "00107802" "00006" "Familial, autosomal recessive" "16y" "dystonia; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085566" "03298" "00107803" "00006" "Familial, autosomal recessive" "11y" "dystonia; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085567" "03298" "00107804" "00006" "Familial, autosomal recessive" "09y" "dystonia, hepatomegaly; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085568" "03298" "00107805" "00006" "Familial, autosomal recessive" "12y" "dystonia; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085569" "03298" "00107806" "00006" "Familial, autosomal recessive" "25y" "dystonia, hepatic cirrhosis; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085570" "03298" "00107807" "00006" "Familial, autosomal recessive" "24y" "dystonia, hepatic cirrhosis; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000085571" "03298" "00107808" "00006" "Familial, autosomal recessive" "07y" "dystonia, hepatomegaly; Hypermanganesemia" "" "" "" "" "" "" "" "" "" "0000283965" "04214" "00390427" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" ## 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}}" "0000108265" "00107794" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108266" "00107795" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108267" "00107796" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108268" "00107797" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108269" "00107798" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108270" "00107799" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108271" "00107800" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108272" "00107801" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108273" "00107802" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108274" "00107803" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108275" "00107804" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108276" "00107805" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108277" "00107806" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108278" "00107807" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000108279" "00107808" "0" "00006" "00002" "2012-05-25 11:32:27" "" "" "SEQ-NG" "DNA" "" "" "0000391668" "00390427" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000108265" "SLC30A10" "0000108266" "SLC30A10" "0000108267" "SLC30A10" "0000108268" "SLC30A10" "0000108269" "SLC30A10" "0000108270" "SLC30A10" "0000108271" "SLC30A10" "0000108272" "SLC30A10" "0000108273" "SLC30A10" "0000108274" "SLC30A10" "0000108275" "SLC30A10" "0000108276" "SLC30A10" "0000108277" "SLC30A10" "0000108278" "SLC30A10" "0000108279" "SLC30A10" "0000391668" "USH2A" ## 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 = 31 "{{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}}" "0000174170" "3" "90" "1" "220101517" "220101517" "subst" "0" "00006" "SLC30A10_000002" "g.220101517A>G" "" "{PMID:Tuschl 2012:22341972}" "MnlI-" "" "Not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.219928175A>G" "" "pathogenic" "" "0000174171" "3" "90" "1" "220101517" "220101517" "subst" "0" "00006" "SLC30A10_000002" "g.220101517A>G" "" "{PMID:Tuschl 2012:22341972}" "MnlI-" "" "Not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.219928175A>G" "" "pathogenic" "" "0000174172" "3" "90" "1" "220101517" "220101517" "subst" "0" "00006" "SLC30A10_000002" "g.220101517A>G" "" "{PMID:Tuschl 2012:22341972}" "MnlI-" "" "Not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.219928175A>G" "" "pathogenic" "" "0000174173" "3" "90" "1" "220101388" "220101498" "del" "0" "00006" "SLC30A10_000003" "g.220101388_220101498del" "" "{PMID:Tuschl 2012:22341972}" "BbvI-" "" "Not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.219928046_219928156del" "" "pathogenic" "" "0000174174" "3" "90" "1" "220101462" "220101470" "del" "0" "00006" "SLC30A10_000004" "g.220101462_220101470del" "" "{PMID:Tuschl 2012:22341972}" "MwoI+;MspI-" "" "Not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.219928120_219928128del" "" "pathogenic" "" "0000174175" "3" "90" "1" "220101462" "220101470" "del" "0" "00006" "SLC30A10_000004" "g.220101462_220101470del" "" "{PMID:Tuschl 2012:22341972}" "MwoI+;MspI-" "" "Not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.219928120_219928128del" "" "pathogenic" "" "0000174176" "3" "90" "1" "220101202" "220101202" "del" "0" "00006" "SLC30A10_000005" "g.220101202del" "" "{PMID:Tuschl 2012:22341972}" "BslI-" "" "Not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.219927860del" "" "pathogenic" "" "0000174177" "3" "90" "1" "219990804" "220091942" "del" "0" "00006" "SLC30A10_000001" "g.219990804_220091942del" "" "{PMID:Tuschl 2012:22341972}" "" "" "Not in 200 control chromosomes; According to authors: exon 1 and 2 affected" "Germline" "" "" "0" "" "" "g.219817462_219918600del" "" "pathogenic" "" "0000174178" "3" "90" "1" "219990804" "220091942" "del" "0" "00006" "SLC30A10_000001" "g.219990804_220091942del" "" "{PMID:Tuschl 2012:22341972}" "" "" "Not in 200 control chromosomes; According to authors: exon 1 and 2 affected" "Germline" "" "" "0" "" "" "g.219817462_219918600del" "" "pathogenic" "" "0000174179" "3" "90" "1" "219990804" "220091942" "del" "0" "00006" "SLC30A10_000001" "g.219990804_220091942del" "" "{PMID:Tuschl 2012:22341972}" "" "" "Not in 200 control chromosomes; According to authors: exon 1 and 2 affected" "Germline" "" "" "0" "" "" "g.219817462_219918600del" "" "pathogenic" "" "0000174180" "3" "90" "1" "219990804" "220091942" "del" "0" "00006" "SLC30A10_000001" "g.219990804_220091942del" "" "{PMID:Tuschl 2012:22341972}" "" "" "Not in 200 control chromosomes; According to authors: exon 1 and 2 affected" "Germline" "" "" "0" "" "" "g.219817462_219918600del" "" "pathogenic" "" "0000174181" "3" "90" "1" "220091790" "220091792" "del" "0" "00006" "SLC30A10_000006" "g.220091790_220091792del" "" "{PMID:Tuschl 2012:22341972}" "" "" "Not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.219918448_219918450del" "" "pathogenic" "" "0000174182" "3" "90" "1" "220091633" "220091633" "subst" "0" "00006" "SLC30A10_000007" "g.220091633G>A" "" "{PMID:Tuschl 2012:22341972}" "" "" "Not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.219918291G>A" "" "pathogenic" "" "0000174183" "3" "90" "1" "220091633" "220091633" "subst" "0" "00006" "SLC30A10_000007" "g.220091633G>A" "" "{PMID:Tuschl 2012:22341972}" "" "" "Not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.219918291G>A" "" "pathogenic" "" "0000174184" "3" "90" "1" "220089203" "220089203" "subst" "0" "00006" "SLC30A10_000008" "g.220089203A>G" "" "{PMID:Tuschl 2012:22341972}" "AciI+;BsgI-" "" "Not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.219915861A>G" "" "pathogenic" "" "0000298294" "0" "30" "1" "220088800" "220088800" "subst" "0.000285997" "02325" "SLC30A10_000009" "g.220088800C>T" "" "" "" "SLC30A10(NM_018713.3):c.1449G>A (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219915458C>T" "" "likely benign" "" "0000298295" "0" "30" "1" "220101514" "220101514" "subst" "0.000458692" "02325" "SLC30A10_000016" "g.220101514G>A" "" "" "" "SLC30A10(NM_018713.2):c.269C>T (p.T90I), SLC30A10(NM_018713.3):c.269C>T (p.T90I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219928172G>A" "" "likely benign" "" "0000298296" "0" "30" "1" "220101267" "220101267" "subst" "0.00191669" "02325" "SLC30A10_000013" "g.220101267G>C" "" "" "" "SLC30A10(NM_018713.3):c.516C>G (p.G172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219927925G>C" "" "likely benign" "" "0000299537" "0" "30" "1" "220101133" "220101133" "subst" "0.00668756" "02329" "SLC30A10_000012" "g.220101133C>T" "" "" "" "SLC30A10(NM_018713.2):c.640+10G>A, SLC30A10(NM_018713.3):c.640+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219927791C>T" "" "likely benign" "" "0000299538" "0" "30" "1" "220101127" "220101127" "subst" "0.00467704" "02329" "SLC30A10_000011" "g.220101127T>C" "" "" "" "SLC30A10(NM_018713.3):c.640+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219927785T>C" "" "likely benign" "" "0000308409" "0" "50" "1" "220088954" "220088954" "subst" "0.000142211" "01943" "SLC30A10_000010" "g.220088954T>C" "" "" "" "SLC30A10(NM_018713.2):c.1295A>G (p.N432S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219915612T>C" "" "VUS" "" "0000308410" "0" "30" "1" "220101514" "220101514" "subst" "0.000458692" "01943" "SLC30A10_000016" "g.220101514G>A" "" "" "" "SLC30A10(NM_018713.2):c.269C>T (p.T90I), SLC30A10(NM_018713.3):c.269C>T (p.T90I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219928172G>A" "" "likely benign" "" "0000308411" "0" "50" "1" "220101499" "220101499" "subst" "0.000551777" "01943" "SLC30A10_000015" "g.220101499G>A" "" "" "" "SLC30A10(NM_018713.2):c.284C>T (p.T95I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219928157G>A" "" "VUS" "" "0000308412" "0" "50" "1" "220101424" "220101424" "subst" "0" "01943" "SLC30A10_000014" "g.220101424C>T" "" "" "" "SLC30A10(NM_018713.2):c.359G>A (p.G120D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219928082C>T" "" "VUS" "" "0000308413" "0" "30" "1" "220101133" "220101133" "subst" "0.00668756" "01943" "SLC30A10_000012" "g.220101133C>T" "" "" "" "SLC30A10(NM_018713.2):c.640+10G>A, SLC30A10(NM_018713.3):c.640+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219927791C>T" "" "likely benign" "" "0000505463" "0" "90" "1" "220089014" "220089014" "del" "0" "01943" "SLC30A10_000017" "g.220089014del" "" "" "" "SLC30A10(NM_018713.2):c.1235delA (p.Q412Rfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219915672del" "" "pathogenic" "" "0000505464" "0" "90" "1" "220101281" "220101283" "delins" "0" "01943" "SLC30A10_000018" "g.220101281_220101283delinsGG" "" "" "" "SLC30A10(NM_018713.2):c.500_502delTCGinsCC (p.F167Sfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219927939_219927941delinsGG" "" "pathogenic" "" "0000505465" "0" "30" "1" "220101589" "220101589" "subst" "0.000158662" "01943" "SLC30A10_000019" "g.220101589G>A" "" "" "" "SLC30A10(NM_018713.2):c.194C>T (p.T65I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219928247G>A" "" "likely benign" "" "0000620507" "0" "30" "1" "220101702" "220101702" "subst" "0" "01943" "SLC30A10_000020" "g.220101702G>A" "" "" "" "SLC30A10(NM_018713.2):c.81C>T (p.V27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219928360G>A" "" "likely benign" "" "0000675662" "0" "30" "1" "220101612" "220101612" "subst" "0" "01943" "SLC30A10_000021" "g.220101612G>C" "" "" "" "SLC30A10(NM_018713.2):c.171C>G (p.A57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821616" "0" "70" "1" "216240159" "222780953" "del" "0" "00000" "USH2A_000000" "g.216240159_222780953del" "" "{PMID:Turro 2020:32581362}" "" "chr1:g.216240159_222780953del" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" ## 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 SLC30A10 ## Count = 31 "{{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}}" "0000174170" "00019268" "90" "266" "0" "266" "0" "c.266T>C" "r.(?)" "p.(Leu89Pro)" "1" "0000174171" "00019268" "90" "266" "0" "266" "0" "c.266T>C" "r.(?)" "p.(Leu89Pro)" "1" "0000174172" "00019268" "90" "266" "0" "266" "0" "c.266T>C" "r.(?)" "p.(Leu89Pro)" "1" "0000174173" "00019268" "90" "292" "0" "402" "0" "c.292_402del" "r.(?)" "p.(Val98_Phe134del)" "1" "0000174174" "00019268" "90" "314" "0" "322" "0" "c.314_322del" "r.(?)" "p.(Ala105_Pro107del)" "1" "0000174175" "00019268" "90" "314" "0" "322" "0" "c.314_322del" "r.(?)" "p.(Ala105_Pro107del)" "1" "0000174176" "00019268" "90" "585" "0" "585" "0" "c.585del" "r.(?)" "p.(Thr196Profs*17)" "1" "0000174177" "00019268" "90" "719" "-105" "99446" "0" "c.719-105_*97988del" "r.?" "p.?" "2i_4_" "0000174178" "00019268" "90" "719" "-105" "99446" "0" "c.719-105_*97988del" "r.?" "p.?" "2i_4_" "0000174179" "00019268" "90" "719" "-105" "99446" "0" "c.719-105_*97988del" "r.?" "p.?" "2i_4_" "0000174180" "00019268" "90" "719" "-105" "99446" "0" "c.719-105_*97988del" "r.?" "p.?" "2i_4_" "0000174181" "00019268" "90" "765" "0" "767" "0" "c.765_767del" "r.(?)" "p.(Val256del)" "3" "0000174182" "00019268" "90" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Gln308*)" "3" "0000174183" "00019268" "90" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Gln308*)" "3" "0000174184" "00019268" "90" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Leu349Pro)" "4" "0000298294" "00019268" "30" "1449" "0" "1449" "0" "c.1449G>A" "r.(?)" "p.(Thr483=)" "" "0000298295" "00019268" "30" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Thr90Ile)" "" "0000298296" "00019268" "30" "516" "0" "516" "0" "c.516C>G" "r.(?)" "p.(Gly172=)" "" "0000299537" "00019268" "30" "640" "10" "640" "10" "c.640+10G>A" "r.(=)" "p.(=)" "" "0000299538" "00019268" "30" "640" "16" "640" "16" "c.640+16A>G" "r.(=)" "p.(=)" "" "0000308409" "00019268" "50" "1295" "0" "1295" "0" "c.1295A>G" "r.(?)" "p.(Asn432Ser)" "" "0000308410" "00019268" "30" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Thr90Ile)" "" "0000308411" "00019268" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Ile)" "" "0000308412" "00019268" "50" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Gly120Asp)" "" "0000308413" "00019268" "30" "640" "10" "640" "10" "c.640+10G>A" "r.(=)" "p.(=)" "" "0000505463" "00019268" "90" "1235" "0" "1235" "0" "c.1235del" "r.(?)" "p.(Gln412ArgfsTer26)" "" "0000505464" "00019268" "90" "500" "0" "502" "0" "c.500_502delinsCC" "r.(?)" "p.(Phe167SerfsTer25)" "" "0000505465" "00019268" "30" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Thr65Ile)" "" "0000620507" "00019268" "30" "81" "0" "81" "0" "c.81C>T" "r.(?)" "p.(Val27=)" "" "0000675662" "00019268" "30" "171" "0" "171" "0" "c.171C>G" "r.(?)" "p.(Ala57=)" "" "0000821616" "00019268" "70" "-211" "-2678960" "2643" "3847447" "c.-2679171_*3848632del" "r.0?" "p.0?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000108265" "0000174170" "0000108266" "0000174171" "0000108267" "0000174172" "0000108268" "0000174173" "0000108269" "0000174174" "0000108270" "0000174175" "0000108271" "0000174176" "0000108272" "0000174177" "0000108273" "0000174178" "0000108274" "0000174179" "0000108275" "0000174180" "0000108276" "0000174181" "0000108277" "0000174182" "0000108278" "0000174183" "0000108279" "0000174184" "0000391668" "0000821616"