### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC20A2) # 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}}" "SLC20A2" "solute carrier family 20 (phosphate transporter), member 2" "8" "p11.21" "unknown" "NG_032161.1" "UD_136091736948" "" "http://www.LOVD.nl/SLC20A2" "" "1" "10947" "6575" "158378" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/SLC20A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-03-15 00:00:00" "00006" "2016-02-13 01:53:56" "00006" "2025-12-19 18:53:31" ## 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}}" "00024104" "SLC20A2" "transcript variant 2" "001" "NM_006749.4" "" "NP_006740.1" "" "" "" "-657" "3300" "1959" "42397356" "42273980" "00006" "2016-02-13 01:51:03" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01699" "IBGC1" "calcification, basal ganglia, idiopathic, type 1 (IBGC-1, Fahr\'s syndrome)" "AD" "213600" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03677" "IBGC" "calcification, basal ganglia, idiopathic (IBGC)" "" "614540" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-02-11 08:59:45" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC20A2" "01699" "SLC20A2" "03677" ## Individuals ## Do not remove or alter this header ## ## Count = 36 "{{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}}" "00058837" "" "" "" "1" "" "00556" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00058838" "" "" "" "1" "" "00556" "" "" "M" "no" "France" "" "0" "" "" "" "" "00058839" "" "" "" "1" "" "00556" "" "" "M" "no" "France" "" "0" "" "" "" "" "00107769" "" "" "" "1" "" "00006" "{PMID:Wang 2012:22327515}" "" "" "" "" "" "0" "" "" "Spanish" "" "00107770" "" "" "" "2" "" "00006" "{PMID:Wang 2012:22327515}" "" "" "" "" "" "0" "" "" "Brazilian" "" "00107771" "" "" "" "3" "" "00006" "{PMID:Wang 2012:22327515}" "" "" "" "" "" "0" "" "" "Chinese" "" "00107772" "" "" "" "1" "" "00006" "{PMID:Wang 2012:22327515}" "" "" "" "" "" "0" "" "" "Spanish" "" "00107773" "" "" "" "1" "" "00006" "{PMID:Wang 2012:22327515}" "" "" "" "" "" "0" "" "" "Spanish" "" "00107774" "" "" "" "2" "" "00006" "{PMID:Wang 2012:22327515}" "" "" "" "" "" "0" "" "" "Chinese" "" "00107775" "" "" "" "1" "" "00006" "{PMID:Wang 2012:22327515}" "" "" "" "" "" "0" "" "" "Chinese" "" "00184614" "" "" "" "1" "" "02952" "" "" "M" "?" "China" "" "0" "" "" "" "" "00184615" "" "" "" "1" "" "02952" "" "" "M" "?" "China" "" "0" "" "" "" "" "00184616" "" "" "" "1" "" "02952" "" "" "M" "?" "China" "" "0" "" "" "" "" "00184617" "" "" "" "3" "" "02952" "" "2-generation family, 3 affecteds(3F)" "F" "no" "China" "" "0" "" "" "" "" "00184618" "" "" "" "1" "" "02952" "" "" "M" "" "China" "" "0" "" "" "" "" "00184619" "" "" "" "1" "" "02952" "" "" "F" "?" "China" "" "0" "" "" "" "" "00184620" "" "" "" "1" "" "02952" "" "" "F" "" "China" "" "0" "" "" "" "" "00184621" "" "" "" "1" "" "02952" "" "" "M" "" "China" "" "0" "" "" "" "" "00184622" "" "" "" "2" "" "02952" "" "2-generation family, 2 affecteds (2M)" "M" "no" "China" "" "0" "" "" "" "" "00184623" "" "" "" "1" "" "02952" "" "" "F" "?" "China" "" "0" "" "" "" "" "00184624" "" "" "" "1" "" "02952" "" "" "M" "?" "China" "" "0" "" "" "" "" "00184625" "" "" "" "1" "" "02952" "" "" "M" "?" "China" "" "0" "" "" "" "" "00184626" "" "" "" "1" "" "02952" "" "" "F" "" "China" "" "0" "" "" "" "" "00184627" "" "" "" "2" "" "02952" "" "1-generation, 2 affected (1F, 1M)" "M" "?" "China" "" "0" "" "" "" "" "00184628" "" "" "" "1" "" "02952" "" "" "F" "" "China" "" "0" "" "" "" "" "00184629" "" "" "" "2" "" "02952" "" "2-generation family, 2 affected (1F, 1M)" "F" "no" "China" "" "0" "" "" "" "" "00184630" "" "" "" "2" "" "02952" "" "2-generation family, 2 affecteds (2M)" "M" "no" "China" "" "0" "" "" "" "" "00222747" "" "" "" "1" "" "02952" "" "" "M" "no" "China" "" "0" "" "" "" "" "00222748" "" "" "" "1" "" "02952" "" "2-generation family, 7 affecteds (4F, 3M)" "M" "no" "China" "" "0" "" "" "" "" "00222752" "" "" "" "1" "" "02952" "" "2-generation family, 5 affecteds (2F, 3M)" "M" "no" "China" "" "0" "" "" "" "" "00294636" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305197" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307086" "" "" "" "1" "" "03750" "" "" "F" "yes" "Spain" "" "0" "" "" "" "" "00449816" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00461064" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00471260" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "patient" "" "" "" "" "0" "" "" "" "IS-DYS-110" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 36 "{{individualid}}" "{{diseaseid}}" "00058837" "01699" "00058838" "01699" "00058839" "01699" "00107769" "03677" "00107770" "03677" "00107771" "03677" "00107772" "03677" "00107773" "03677" "00107774" "03677" "00107775" "03677" "00184614" "01699" "00184615" "01699" "00184616" "01699" "00184617" "01699" "00184618" "01699" "00184619" "01699" "00184620" "01699" "00184621" "01699" "00184622" "01699" "00184623" "01699" "00184624" "01699" "00184625" "01699" "00184626" "01699" "00184627" "01699" "00184628" "01699" "00184629" "01699" "00184630" "01699" "00222747" "01699" "00222748" "01699" "00222752" "01699" "00294636" "00198" "00305197" "00198" "00307086" "01699" "00449816" "00198" "00461064" "00198" "00471260" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00198, 01699, 03677 ## Count = 33 "{{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}}" "0000045425" "01699" "00058839" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045426" "01699" "00058838" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045427" "01699" "00058837" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085532" "03677" "00107769" "00006" "Familial, autosomal dominant" "" "Basal ganglia calcification, idiopathic" "" "" "" "" "" "" "" "" "IBGC-1" "" "" "0000085533" "03677" "00107770" "00006" "Familial, autosomal dominant" "" "Basal ganglia calcification, idiopathic" "" "" "" "" "" "" "" "" "IBGC-1" "" "" "0000085534" "03677" "00107771" "00006" "Familial, autosomal dominant" "" "Basal ganglia calcification, idiopathic" "" "" "" "" "" "" "" "" "IBGC-1" "" "" "0000085535" "03677" "00107772" "00006" "Familial, autosomal dominant" "" "Basal ganglia calcification, idiopathic" "" "" "" "" "" "" "" "" "IBGC-1" "" "" "0000085536" "03677" "00107773" "00006" "Familial, autosomal dominant" "" "Basal ganglia calcification, idiopathic" "" "" "" "" "" "" "" "" "IBGC-1" "" "" "0000085537" "03677" "00107774" "00006" "Familial, autosomal dominant" "" "Basal ganglia calcification, idiopathic" "" "" "" "" "" "" "" "" "IBGC-1" "" "" "0000085538" "03677" "00107775" "00006" "Familial, autosomal dominant" "" "Basal ganglia calcification, idiopathic" "" "" "" "" "" "" "" "" "IBGC-1" "" "" "0000144744" "01699" "00184614" "02952" "Unknown" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000144745" "01699" "00184615" "02952" "Unknown" "" "brain calcification, TIA" "" "" "" "" "" "" "" "" "" "" "" "0000144746" "01699" "00184616" "02952" "Unknown" "" "brain calcification, dreaminess" "" "" "" "" "" "" "" "" "" "" "" "0000144747" "01699" "00184617" "02952" "Familial, autosomal dominant" "" "brain calcification, chronic headache" "" "" "" "" "" "" "" "" "" "" "" "0000144748" "01699" "00184618" "02952" "Unknown" "" "brain calcification" "" "" "" "" "" "" "" "" "" "" "" "0000144749" "01699" "00184619" "02952" "Unknown" "" "brain calcifications, Vertigo" "" "" "" "" "" "" "" "" "" "" "" "0000144750" "01699" "00184620" "02952" "Unknown" "" "brain calcifications, chronic headache" "" "" "" "" "" "" "" "" "" "" "" "0000144751" "01699" "00184621" "02952" "Unknown" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000144752" "01699" "00184622" "02952" "Familial, autosomal dominant" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000144753" "01699" "00184623" "02952" "Unknown" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000144754" "01699" "00184624" "02952" "Unknown" "" "brain calcifications, numbness of limbs" "" "" "" "" "" "" "" "" "" "" "" "0000144755" "01699" "00184625" "02952" "Unknown" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000144756" "01699" "00184626" "02952" "Unknown" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000144757" "01699" "00184627" "02952" "Unknown" "" "brain calcifications, hypomnesia" "" "" "" "" "" "" "" "" "" "" "" "0000144758" "01699" "00184628" "02952" "Unknown" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000144759" "01699" "00184629" "02952" "Familial, autosomal dominant" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000144760" "01699" "00184630" "02952" "Familial, autosomal dominant" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000167948" "01699" "00222747" "02952" "Familial, autosomal dominant" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000167949" "01699" "00222748" "02952" "Familial, autosomal dominant" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000167954" "01699" "00222752" "02952" "Familial, autosomal dominant" "" "brain calcifications" "" "" "" "" "" "" "" "" "" "" "" "0000232905" "01699" "00307086" "03750" "Familial, autosomal recessive" "20y" "HP:0000709, HP:0001260, HP:0002312, HP:0002514" "20y" "55y" "" "" "" "" "" "" "IBGC-1" "IBGC-1" "" "0000338962" "00198" "00449816" "03544" "Isolated (sporadic)" "" "HP:0002134" "" "" "" "" "" "" "" "" "IBGC1" "Fahr disease" "" "0000356097" "00108" "00471260" "00006" "Unknown" "" "isolated dystonia; onset adolescence (13-20y); focal dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "" "dystonia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058801" "00058837" "1" "00556" "00556" "2016-02-09 20:13:10" "" "" "SEQ-NG" "DNA" "blood" "" "0000058802" "00058838" "1" "00556" "00556" "2016-02-09 20:18:31" "" "" "SEQ-NG" "DNA" "blood" "" "0000058803" "00058839" "1" "00556" "00556" "2016-02-09 20:20:51" "" "" "SEQ-NG" "DNA" "blood" "" "0000108240" "00107769" "0" "00006" "00002" "2012-03-15 14:52:43" "" "" "SEQ" "DNA" "" "" "0000108241" "00107770" "0" "00006" "00002" "2012-03-15 14:52:43" "" "" "SEQ" "DNA" "" "" "0000108242" "00107771" "0" "00006" "00002" "2012-03-15 14:52:43" "" "" "SEQ" "DNA" "" "" "0000108243" "00107772" "0" "00006" "00002" "2012-03-15 14:52:43" "" "" "SEQ" "DNA" "" "" "0000108244" "00107773" "0" "00006" "00002" "2012-03-15 14:52:43" "" "" "SEQ" "DNA" "" "" "0000108245" "00107774" "0" "00006" "00002" "2012-03-15 14:52:43" "" "" "SEQ" "DNA" "" "" "0000108246" "00107775" "0" "00006" "00002" "2012-03-15 14:52:43" "" "" "SEQ" "DNA" "" "" "0000185581" "00184614" "1" "02952" "02952" "2018-10-31 09:48:20" "" "" "SEQ" "DNA" "" "" "0000185582" "00184615" "1" "02952" "02952" "2018-10-31 10:39:19" "" "" "SEQ" "DNA" "" "" "0000185583" "00184616" "1" "02952" "02952" "2018-10-31 10:50:52" "" "" "SEQ" "DNA" "" "" "0000185584" "00184617" "1" "02952" "02952" "2018-10-31 11:12:56" "" "" "SEQ" "DNA" "" "" "0000185585" "00184618" "1" "02952" "02952" "2018-10-31 12:21:37" "" "" "SEQ" "DNA" "" "" "0000185586" "00184619" "1" "02952" "02952" "2018-10-31 13:31:54" "" "" "SEQ" "DNA" "" "" "0000185587" "00184620" "1" "02952" "02952" "2018-10-31 13:40:59" "" "" "SEQ" "DNA" "" "" "0000185588" "00184621" "1" "02952" "02952" "2018-10-31 13:46:00" "" "" "SEQ" "DNA" "" "" "0000185589" "00184622" "1" "02952" "02952" "2018-10-31 13:52:30" "" "" "SEQ" "DNA" "" "" "0000185590" "00184623" "1" "02952" "02952" "2018-10-31 13:59:59" "" "" "SEQ" "DNA" "" "" "0000185591" "00184624" "1" "02952" "02952" "2018-10-31 14:04:47" "" "" "SEQ" "DNA" "" "" "0000185592" "00184625" "1" "02952" "02952" "2018-10-31 14:09:29" "" "" "SEQ" "DNA" "" "" "0000185593" "00184626" "1" "02952" "02952" "2018-10-31 14:14:29" "" "" "SEQ" "DNA" "" "" "0000185594" "00184627" "1" "02952" "02952" "2018-10-31 14:21:14" "" "" "SEQ" "DNA" "" "" "0000185595" "00184628" "1" "02952" "02952" "2018-10-31 14:32:46" "" "" "SEQ" "DNA" "" "" "0000185596" "00184629" "1" "02952" "02952" "2018-10-31 14:42:18" "" "" "SEQ" "DNA" "" "" "0000185597" "00184630" "1" "02952" "02952" "2018-10-31 14:46:20" "" "" "SEQ" "DNA" "" "" "0000223818" "00222747" "1" "02952" "02952" "2019-02-10 18:13:50" "" "" "DHPLC;PCRq" "DNA" "" "" "0000223819" "00222748" "1" "02952" "02952" "2019-02-10 18:54:46" "" "" "PCRq" "DNA" "" "" "0000223823" "00222748" "1" "02952" "02952" "2019-02-11 09:42:27" "" "" "PCR" "DNA" "" "" "0000223824" "00222752" "1" "02952" "02952" "2019-02-11 11:05:45" "" "" "PCRq" "DNA" "" "" "0000295804" "00294636" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306326" "00305197" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308228" "00307086" "1" "03750" "03750" "2020-07-30 18:52:50" "" "" "SEQ-NG" "DNA" "" "WES" "0000451411" "00449816" "1" "03544" "03544" "2024-05-16 09:04:47" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000462696" "00461064" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000472930" "00471260" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "solo WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{geneid}}" "0000058801" "SLC20A2" "0000058802" "SLC20A2" "0000058803" "SLC20A2" "0000108240" "SLC20A2" "0000108241" "SLC20A2" "0000108242" "SLC20A2" "0000108243" "SLC20A2" "0000108244" "SLC20A2" "0000108245" "SLC20A2" "0000108246" "SLC20A2" "0000185581" "SLC20A2" "0000185582" "SLC20A2" "0000185583" "SLC20A2" "0000185584" "SLC20A2" "0000185585" "SLC20A2" "0000185586" "SLC20A2" "0000185587" "SLC20A2" "0000185588" "SLC20A2" "0000185589" "SLC20A2" "0000185590" "SLC20A2" "0000185591" "SLC20A2" "0000185592" "SLC20A2" "0000185593" "SLC20A2" "0000185594" "SLC20A2" "0000185595" "SLC20A2" "0000185596" "SLC20A2" "0000185597" "SLC20A2" "0000223818" "KIAA1161" "0000223818" "PDGFB" "0000223818" "PDGFRB" "0000223818" "SLC20A2" "0000223818" "XPR1" "0000223819" "SLC20A2" "0000223823" "SLC20A2" "0000223824" "SLC20A2" "0000308228" "PDGFB" "0000308228" "PDGFRB" "0000308228" "SLC20A2" "0000308228" "XPR1" "0000462696" "SLC20A2" ## 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 = 107 "{{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}}" "0000089490" "20" "90" "8" "42329619" "42330173" "" "0" "00556" "SLC20A2_000009" "g.(42323436_42329619)_(42330173_42358548)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000089491" "0" "90" "8" "42320522" "42320609" "" "0" "00556" "SLC20A2_000010" "g.(42317511_42320522)_(42320609_42323294)del" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic" "" "0000089492" "0" "90" "8" "42317413" "42320609" "" "0" "00556" "SLC20A2_000008" "g.(42302281_42317413)_(42320609_42323294)del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000174144" "2" "70" "8" "42329786" "42329788" "del" "0" "00006" "SLC20A2_000007" "g.42329786_42329788del" "" "{PMID:Wang 2012:22327515}" "" "" "not found in 576 control chromosomes" "Germline" "" "" "0" "" "" "g.42472268_42472270del" "" "likely pathogenic" "" "0000174145" "2" "70" "8" "42294623" "42294623" "del" "0" "00006" "SLC20A2_000004" "g.42294623del" "" "{PMID:Wang 2012:22327515}" "" "Pro470Leufs*37" "not found in 202 control chromosomes" "Germline" "" "" "0" "" "" "g.42437105del" "" "likely pathogenic" "" "0000174146" "2" "70" "8" "42294538" "42294538" "subst" "0" "00006" "SLC20A2_000001" "g.42294538C>T" "" "{PMID:Wang 2012:22327515}" "" "" "not found in 1016 control chromosomes" "Germline" "" "" "0" "" "" "g.42437020C>T" "" "likely pathogenic" "" "0000174147" "2" "70" "8" "42286347" "42286347" "subst" "0" "00006" "SLC20A2_000005" "g.42286347C>T" "" "{PMID:Wang 2012:22327515}" "" "" "not found in 576 control chromosomes" "Germline" "" "" "0" "" "" "g.42428829C>T" "" "likely pathogenic" "" "0000174148" "2" "70" "8" "42286286" "42286286" "subst" "0" "00006" "SLC20A2_000006" "g.42286286G>A" "" "{PMID:Wang 2012:22327515}" "" "" "not found in 576 control chromosomes" "Germline" "" "" "0" "" "" "g.42428768G>A" "" "likely pathogenic" "" "0000174149" "2" "70" "8" "42275478" "42275478" "subst" "0" "00006" "SLC20A2_000002" "g.42275478G>C" "" "{PMID:Wang 2012:22327515}" "" "" "not found in 1016 control chromosomes" "Germline" "" "" "0" "" "" "g.42417960G>C" "" "likely pathogenic" "" "0000174150" "2" "70" "8" "42275478" "42275478" "subst" "4.10995E-6" "00006" "SLC20A2_000003" "g.42275478G>A" "" "{PMID:Wang 2012:22327515}" "" "" "not found in 1016 control chromosomes" "Germline" "" "" "0" "" "" "g.42417960G>A" "" "likely pathogenic" "" "0000249973" "0" "30" "8" "42329851" "42329851" "subst" "0.00559292" "02329" "SLC20A2_000032" "g.42329851A>G" "" "" "" "SLC20A2(NM_001257180.2):c.58T>C (p.L20=), SLC20A2(NM_006749.4):c.58T>C (p.L20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42472333A>G" "" "likely benign" "" "0000250445" "0" "30" "8" "42320628" "42320628" "del" "0" "02329" "SLC20A2_000029" "g.42320628del" "" "" "" "SLC20A2(NM_001257180.2):c.431-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42463110del" "" "likely benign" "" "0000254064" "0" "30" "8" "42329851" "42329851" "subst" "0.00559292" "01943" "SLC20A2_000032" "g.42329851A>G" "" "" "" "SLC20A2(NM_001257180.2):c.58T>C (p.L20=), SLC20A2(NM_006749.4):c.58T>C (p.L20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42472333A>G" "" "likely benign" "" "0000298250" "0" "30" "8" "42296969" "42296969" "subst" "0.00364254" "02325" "SLC20A2_000020" "g.42296969G>A" "" "" "" "SLC20A2(NM_001257180.2):c.933C>T (p.Y311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42439451G>A" "" "likely benign" "" "0000299499" "0" "10" "8" "42295022" "42295022" "subst" "0.0157471" "02329" "SLC20A2_000019" "g.42295022G>A" "" "" "" "SLC20A2(NM_001257180.2):c.1008C>T (p.H336=), SLC20A2(NM_006749.4):c.1008C>T (p.H336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42437504G>A" "" "benign" "" "0000299500" "0" "30" "8" "42295019" "42295019" "subst" "0.00482369" "02329" "SLC20A2_000018" "g.42295019G>T" "" "" "" "SLC20A2(NM_001257180.2):c.1011C>A (p.T337=), SLC20A2(NM_006749.4):c.1011C>A (p.T337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42437501G>T" "" "likely benign" "" "0000299501" "0" "30" "8" "42294776" "42294776" "subst" "0.00476823" "02329" "SLC20A2_000016" "g.42294776G>A" "" "" "" "SLC20A2(NM_001257180.2):c.1254C>T (p.G418=), SLC20A2(NM_006749.4):c.1254C>T (p.G418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42437258G>A" "" "likely benign" "" "0000299502" "0" "10" "8" "42294592" "42294592" "subst" "0.012864" "02329" "SLC20A2_000014" "g.42294592C>T" "" "" "" "SLC20A2(NM_001257180.2):c.1438G>A (p.A480T), SLC20A2(NM_006749.4):c.1438G>A (p.A480T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42437074C>T" "" "benign" "" "0000299503" "0" "30" "8" "42287719" "42287719" "subst" "0.000203512" "02329" "SLC20A2_000013" "g.42287719G>A" "" "" "" "SLC20A2(NM_001257180.2):c.1572C>T (p.G524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42430201G>A" "" "likely benign" "" "0000299504" "0" "10" "8" "42275468" "42275468" "subst" "0.00338419" "02329" "SLC20A2_000011" "g.42275468G>A" "" "" "" "SLC20A2(NM_001257180.2):c.1812C>T (p.A604=), SLC20A2(NM_006749.4):c.1812C>T (p.A604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42417950G>A" "" "benign" "" "0000299505" "0" "30" "8" "42323448" "42323448" "subst" "0.00308536" "02329" "SLC20A2_000031" "g.42323448G>T" "" "" "" "SLC20A2(NM_001257180.2):c.290-13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42465930G>T" "" "likely benign" "" "0000299506" "0" "10" "8" "42323380" "42323380" "subst" "0.00678911" "02329" "SLC20A2_000030" "g.42323380C>T" "" "" "" "SLC20A2(NM_001257180.2):c.345G>A (p.T115=), SLC20A2(NM_006749.4):c.345G>A (p.T115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42465862C>T" "" "benign" "" "0000299507" "0" "30" "8" "42296993" "42296993" "subst" "0.00967004" "02329" "SLC20A2_000022" "g.42296993C>T" "" "" "" "SLC20A2(NM_001257180.2):c.909G>A (p.A303=), SLC20A2(NM_006749.4):c.909G>A (p.A303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42439475C>T" "" "likely benign" "" "0000299508" "0" "10" "8" "42296992" "42296992" "subst" "0.0148012" "02329" "SLC20A2_000021" "g.42296992C>T" "" "" "" "SLC20A2(NM_001257180.1):c.910G>A (p.(Gly304Ser)), SLC20A2(NM_001257180.2):c.910G>A (p.G304S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42439474C>T" "" "benign" "" "0000308264" "0" "10" "8" "42295022" "42295022" "subst" "0.0157471" "01943" "SLC20A2_000019" "g.42295022G>A" "" "" "" "SLC20A2(NM_001257180.2):c.1008C>T (p.H336=), SLC20A2(NM_006749.4):c.1008C>T (p.H336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42437504G>A" "" "benign" "" "0000308265" "0" "10" "8" "42295019" "42295019" "subst" "0.00482369" "01943" "SLC20A2_000018" "g.42295019G>T" "" "" "" "SLC20A2(NM_001257180.2):c.1011C>A (p.T337=), SLC20A2(NM_006749.4):c.1011C>A (p.T337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42437501G>T" "" "benign" "" "0000308266" "0" "50" "8" "42294940" "42294940" "subst" "4.06095E-6" "01943" "SLC20A2_000017" "g.42294940C>T" "" "" "" "SLC20A2(NM_006749.4):c.1090G>A (p.D364N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42437422C>T" "" "VUS" "" "0000308267" "0" "10" "8" "42294776" "42294776" "subst" "0.00476823" "01943" "SLC20A2_000016" "g.42294776G>A" "" "" "" "SLC20A2(NM_001257180.2):c.1254C>T (p.G418=), SLC20A2(NM_006749.4):c.1254C>T (p.G418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42437258G>A" "" "benign" "" "0000308268" "0" "30" "8" "42294661" "42294661" "subst" "2.03588E-5" "01943" "SLC20A2_000015" "g.42294661C>T" "" "" "" "SLC20A2(NM_001257180.2):c.1369G>A (p.A457T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42437143C>T" "" "likely benign" "" "0000308269" "0" "10" "8" "42294592" "42294592" "subst" "0.012864" "01943" "SLC20A2_000014" "g.42294592C>T" "" "" "" "SLC20A2(NM_001257180.2):c.1438G>A (p.A480T), SLC20A2(NM_006749.4):c.1438G>A (p.A480T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42437074C>T" "" "benign" "" "0000308270" "0" "30" "8" "42287711" "42287711" "subst" "0.000199343" "01943" "SLC20A2_000012" "g.42287711G>A" "" "" "" "SLC20A2(NM_001257180.2):c.1580C>T (p.T527M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42430193G>A" "" "likely benign" "" "0000308271" "0" "30" "8" "42275468" "42275468" "subst" "0.00338419" "01943" "SLC20A2_000011" "g.42275468G>A" "" "" "" "SLC20A2(NM_001257180.2):c.1812C>T (p.A604=), SLC20A2(NM_006749.4):c.1812C>T (p.A604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42417950G>A" "" "likely benign" "" "0000308272" "0" "30" "8" "42323380" "42323380" "subst" "0.00678911" "01943" "SLC20A2_000030" "g.42323380C>T" "" "" "" "SLC20A2(NM_001257180.2):c.345G>A (p.T115=), SLC20A2(NM_006749.4):c.345G>A (p.T115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42465862C>T" "" "likely benign" "" "0000308273" "0" "50" "8" "42317494" "42317494" "subst" "0.000159405" "01943" "SLC20A2_000028" "g.42317494T>C" "" "" "" "SLC20A2(NM_001257180.2):c.533A>G (p.N178S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42459976T>C" "" "VUS" "" "0000308274" "0" "50" "8" "42317486" "42317486" "subst" "4.084E-6" "01943" "SLC20A2_000027" "g.42317486G>A" "" "" "" "SLC20A2(NM_001257180.2):c.541C>T (p.R181W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42459968G>A" "" "VUS" "" "0000308275" "0" "50" "8" "42317485" "42317485" "subst" "8.16307E-5" "01943" "SLC20A2_000026" "g.42317485C>T" "" "" "" "SLC20A2(NM_001257180.2):c.542G>A (p.R181Q), SLC20A2(NM_006749.4):c.542G>A (p.R181Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42459967C>T" "" "VUS" "" "0000308276" "0" "50" "8" "42297141" "42297141" "subst" "0.000450794" "01943" "SLC20A2_000025" "g.42297141C>T" "" "" "" "SLC20A2(NM_001257180.2):c.761G>A (p.R254Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42439623C>T" "" "VUS" "" "0000308277" "0" "30" "8" "42297125" "42297125" "subst" "6.90338E-5" "01943" "SLC20A2_000024" "g.42297125G>C" "" "" "" "SLC20A2(NM_001257180.2):c.777C>G (p.S259R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42439607G>C" "" "likely benign" "" "0000308278" "0" "30" "8" "42297053" "42297053" "subst" "0.000690355" "01943" "SLC20A2_000023" "g.42297053G>A" "" "" "" "SLC20A2(NM_001257180.2):c.849C>T (p.S283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42439535G>A" "" "likely benign" "" "0000308279" "0" "10" "8" "42296993" "42296993" "subst" "0.00967004" "01943" "SLC20A2_000022" "g.42296993C>T" "" "" "" "SLC20A2(NM_001257180.2):c.909G>A (p.A303=), SLC20A2(NM_006749.4):c.909G>A (p.A303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42439475C>T" "" "benign" "" "0000308280" "0" "30" "8" "42296969" "42296969" "subst" "0.00364254" "01943" "SLC20A2_000020" "g.42296969G>A" "" "" "" "SLC20A2(NM_001257180.2):c.933C>T (p.Y311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42439451G>A" "" "likely benign" "" "0000338063" "0" "10" "8" "42397004" "42397004" "subst" "0" "02327" "SLC20A2_000038" "g.42397004C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42541861C>T" "" "benign" "" "0000340750" "0" "30" "8" "42329771" "42329771" "subst" "0.00027616" "02327" "SLC20A2_000037" "g.42329771C>T" "" "" "" "SLC20A2(NM_001257180.2):c.138G>A (p.Q46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42472253C>T" "" "likely benign" "" "0000341505" "0" "70" "8" "42286316" "42286316" "subst" "0" "02327" "SLC20A2_000033" "g.42286316G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42428798G>A" "" "likely pathogenic" "" "0000342775" "0" "50" "8" "42294889" "42294889" "subst" "1.21904E-5" "02327" "SLC20A2_000035" "g.42294889G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42437371G>A" "" "VUS" "" "0000346363" "0" "50" "8" "42323378" "42323378" "subst" "0" "02327" "SLC20A2_000036" "g.42323378T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42465860T>C" "" "VUS" "" "0000348508" "0" "50" "8" "42287588" "42287588" "subst" "1.24047E-5" "02327" "SLC20A2_000034" "g.42287588G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42430070G>A" "" "VUS" "" "0000411093" "0" "90" "8" "42329838" "42329838" "subst" "0" "02952" "SLC20A2_000039" "g.42329838A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42472320A>G" "" "pathogenic (dominant)" "" "0000411094" "0" "70" "8" "42329760" "42329764" "del" "0" "02952" "SLC20A2_000040" "g.42329760_42329764del" "" "" "" "146_150delTTTTA" "" "Germline" "yes" "" "0" "" "" "g.42472242_42472246del" "" "pathogenic (dominant)" "" "0000411095" "0" "70" "8" "42329703" "42329703" "del" "0" "02952" "SLC20A2_000041" "g.42329703del" "" "" "" "207delC" "" "Germline" "yes" "" "0" "" "" "g.42472185del" "" "pathogenic (dominant)" "" "0000411096" "21" "90" "8" "42323393" "42323393" "subst" "0" "02952" "SLC20A2_000042" "g.42323393G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42465875G>A" "" "pathogenic (dominant)" "" "0000411097" "0" "70" "8" "42302163" "42302163" "subst" "0" "02952" "SLC20A2_000043" "g.42302163C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42444645C>T" "" "likely pathogenic" "" "0000411098" "0" "70" "8" "42294873" "42294873" "dup" "0" "02952" "SLC20A2_000044" "g.42294873dup" "" "" "" "c.1157dup" "" "Germline" "yes" "" "0" "" "" "g.42437355dup" "" "likely pathogenic" "" "0000411099" "0" "70" "8" "42294832" "42294833" "ins" "0" "02952" "SLC20A2_000045" "g.42294832_42294833insT" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42437314_42437315insT" "" "likely pathogenic" "" "0000411100" "0" "70" "8" "42294701" "42294701" "del" "0" "02952" "SLC20A2_000046" "g.42294701del" "" "" "" "1330delG" "" "Germline" "yes" "" "0" "" "" "g.42437183del" "" "likely pathogenic" "" "0000411101" "11" "90" "8" "42287651" "42287651" "subst" "0" "02952" "SLC20A2_000047" "g.42287651C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42430133C>G" "" "pathogenic" "" "0000411102" "0" "70" "8" "42287618" "42287618" "subst" "0" "02952" "SLC20A2_000052" "g.42287618G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42430100G>A" "" "likely pathogenic" "" "0000411103" "0" "70" "8" "42287618" "42287618" "subst" "0" "02952" "SLC20A2_000052" "g.42287618G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42430100G>A" "" "likely pathogenic" "" "0000411104" "0" "70" "8" "42286283" "42286283" "subst" "0" "02952" "SLC20A2_000051" "g.42286283T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42428765T>C" "" "likely pathogenic" "" "0000411105" "0" "70" "8" "42286275" "42286275" "subst" "0" "02952" "SLC20A2_000050" "g.42286275C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42428757C>A" "" "likely pathogenic" "" "0000411106" "0" "70" "8" "42286275" "42286275" "subst" "0" "02952" "SLC20A2_000050" "g.42286275C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42428757C>A" "" "likely pathogenic" "" "0000411107" "0" "70" "8" "42275470" "42275470" "subst" "0" "02952" "SLC20A2_000049" "g.42275470C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42417952C>G" "" "likely pathogenic" "" "0000411108" "0" "70" "8" "42275469" "42275469" "subst" "0" "02952" "SLC20A2_000048" "g.42275469G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42417951G>A" "" "likely pathogenic" "" "0000411109" "0" "70" "8" "42275469" "42275469" "subst" "0" "02952" "SLC20A2_000048" "g.42275469G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42417951G>A" "" "likely pathogenic" "" "0000455456" "0" "90" "8" "41346129" "43050788" "del" "0" "02952" "SLC20A2_000053" "g.(?_41346129)_(43050788_?)del" "" "" "" "41346129_43050788del" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000455463" "0" "30" "8" "42297103" "42297103" "subst" "0" "02952" "SLC20A2_000054" "g.42297103C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42439585C>G" "" "likely benign" "" "0000455464" "0" "90" "8" "42302163" "42302281" "del" "0" "02952" "SLC20A2_000055" "g.(42297172_42302163)_(42302281_42317413)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000455465" "0" "70" "8" "42329619" "42330173" "del" "0" "02952" "SLC20A2_000009" "g.(42323436_42329619)_(42330173_42358548)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000534831" "0" "30" "8" "42275420" "42275420" "subst" "4.06696E-6" "01943" "C8orf40_000001" "g.42275420C>G" "" "" "" "SLC20A2(NM_001257180.2):c.1860G>C (p.R620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42417902C>G" "" "likely benign" "" "0000534832" "0" "30" "8" "42275477" "42275477" "subst" "8.2093E-6" "01943" "C8orf40_000002" "g.42275477C>G" "" "" "" "SLC20A2(NM_001257180.2):c.1803G>C (p.S601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42417959C>G" "" "likely benign" "" "0000534833" "0" "30" "8" "42286318" "42286318" "subst" "2.08163E-5" "02329" "C8orf40_000003" "g.42286318G>A" "" "" "" "SLC20A2(NM_001257180.2):c.1752C>T (p.I584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42428800G>A" "" "likely benign" "" "0000534834" "0" "30" "8" "42294512" "42294512" "subst" "4.29845E-6" "01943" "C8orf40_000004" "g.42294512G>A" "" "" "" "SLC20A2(NM_001257180.2):c.1518C>T (p.D506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42436994G>A" "" "likely benign" "" "0000534835" "0" "30" "8" "42294653" "42294653" "subst" "3.25844E-5" "01943" "C8orf40_000005" "g.42294653C>A" "" "" "" "SLC20A2(NM_001257180.2):c.1377G>T (p.E459D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42437135C>A" "" "likely benign" "" "0000534836" "0" "90" "8" "42294872" "42294872" "subst" "0" "02329" "C8orf40_000006" "g.42294872G>T" "" "" "" "SLC20A2(NM_001257180.2):c.1158C>A (p.Y386*), SLC20A2(NM_006749.5):c.1158C>A (p.Y386*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42437354G>T" "" "pathogenic" "" "0000534837" "0" "30" "8" "42294896" "42294896" "subst" "0.000495681" "01943" "C8orf40_000007" "g.42294896C>A" "" "" "" "SLC20A2(NM_001257180.2):c.1134G>T (p.R378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42437378C>A" "" "likely benign" "" "0000534838" "0" "50" "8" "42295032" "42295032" "subst" "0" "02329" "C8orf40_000008" "g.42295032A>C" "" "" "" "SLC20A2(NM_001257180.2):c.998T>G (p.F333C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42437514A>C" "" "VUS" "" "0000534839" "0" "30" "8" "42296969" "42296969" "subst" "0.00364254" "02329" "SLC20A2_000020" "g.42296969G>A" "" "" "" "SLC20A2(NM_001257180.2):c.933C>T (p.Y311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42439451G>A" "" "likely benign" "" "0000534840" "0" "30" "8" "42296979" "42296979" "subst" "8.15807E-6" "02329" "C8orf40_000009" "g.42296979C>T" "" "" "" "SLC20A2(NM_001257180.2):c.923G>A (p.R308Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42439461C>T" "" "likely benign" "" "0000534841" "0" "30" "8" "42296992" "42296992" "subst" "0.0148012" "01804" "SLC20A2_000021" "g.42296992C>T" "" "" "" "SLC20A2(NM_001257180.1):c.910G>A (p.(Gly304Ser)), SLC20A2(NM_001257180.2):c.910G>A (p.G304S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42439474C>T" "" "likely benign" "" "0000534842" "0" "30" "8" "42297008" "42297008" "subst" "1.21983E-5" "01943" "C8orf40_000010" "g.42297008C>T" "" "" "" "SLC20A2(NM_001257180.2):c.894G>A (p.S298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42439490C>T" "" "likely benign" "" "0000534843" "0" "50" "8" "42317446" "42317446" "subst" "1.22137E-5" "02327" "C8orf40_000011" "g.42317446T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42459928T>C" "" "VUS" "" "0000534844" "0" "50" "8" "42323381" "42323381" "subst" "0" "01943" "C8orf40_000012" "g.42323381G>A" "" "" "" "SLC20A2(NM_001257180.2):c.344C>T (p.T115M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42465863G>A" "" "VUS" "" "0000534845" "0" "70" "8" "42323381" "42323381" "subst" "0" "02329" "C8orf40_000012" "g.42323381G>A" "" "" "" "SLC20A2(NM_001257180.2):c.344C>T (p.T115M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42465863G>A" "" "likely pathogenic" "" "0000611618" "0" "30" "8" "42295014" "42295014" "subst" "2.03786E-5" "02329" "C8orf40_000013" "g.42295014C>T" "" "" "" "SLC20A2(NM_001257180.2):c.1016G>A (p.S339N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42437496C>T" "" "likely benign" "" "0000611619" "0" "30" "8" "42329771" "42329771" "subst" "0.00027616" "02329" "SLC20A2_000037" "g.42329771C>T" "" "" "" "SLC20A2(NM_001257180.2):c.138G>A (p.Q46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42472253C>T" "" "likely benign" "" "0000622064" "0" "30" "8" "42329732" "42329732" "subst" "8.12137E-6" "01943" "C8orf40_000014" "g.42329732G>A" "" "" "" "SLC20A2(NM_006749.4):c.177C>T (p.S59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42472214G>A" "" "likely benign" "" "0000652493" "1" "30" "8" "42294592" "42294592" "subst" "0.012864" "03575" "SLC20A2_000014" "g.42294592C>T" "21/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous; {DB:CLININrs79577461}" "Germline" "" "rs79577461" "0" "" "" "g.42437074C>T" "" "likely benign" "" "0000670014" "3" "30" "8" "42294592" "42294592" "subst" "0.012864" "03575" "SLC20A2_000014" "g.42294592C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs79577461}" "Germline" "" "rs79577461" "0" "" "" "g.42437074C>T" "" "likely benign" "" "0000675116" "3" "90" "8" "42329698" "42329698" "subst" "4.06062E-6" "03750" "SLC20A2_000056" "g.42329698G>A" "MAF<0.0001%" "" "" "" "" "Germline" "-" "rs373139157" "0" "" "" "g.42472180G>A" "" "pathogenic (recessive)" "ACMG" "0000690270" "0" "50" "8" "42317459" "42317459" "subst" "0" "02327" "C8orf40_000016" "g.42317459T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690271" "0" "90" "8" "42323381" "42323381" "subst" "0" "02327" "C8orf40_000012" "g.42323381G>A" "" "" "" "SLC20A2(NM_001257180.2):c.344C>T (p.T115M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721993" "0" "50" "8" "42275501" "42275501" "subst" "0" "02329" "C8orf40_000017" "g.42275501T>C" "" "" "" "SLC20A2(NM_001257180.2):c.1795-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721994" "0" "90" "8" "42294567" "42294568" "ins" "0" "02329" "C8orf40_000015" "g.42294567_42294568insCA" "" "" "" "SLC20A2(NM_006749.5):c.1462_1463insTG (p.H488Lfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721995" "0" "90" "8" "42294872" "42294872" "subst" "0" "02326" "C8orf40_000006" "g.42294872G>T" "" "" "" "SLC20A2(NM_001257180.2):c.1158C>A (p.Y386*), SLC20A2(NM_006749.5):c.1158C>A (p.Y386*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803654" "0" "50" "8" "42275454" "42275454" "subst" "2.04118E-5" "02327" "C8orf40_000018" "g.42275454C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803655" "0" "50" "8" "42317485" "42317485" "subst" "8.16307E-5" "02329" "SLC20A2_000026" "g.42317485C>T" "" "" "" "SLC20A2(NM_001257180.2):c.542G>A (p.R181Q), SLC20A2(NM_006749.4):c.542G>A (p.R181Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803656" "0" "30" "8" "42329866" "42329866" "subst" "0" "01943" "C8orf40_000019" "g.42329866T>C" "" "" "" "SLC20A2(NM_006749.4):c.43A>G (p.I15V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851927" "0" "90" "8" "42329781" "42329793" "del" "0" "02326" "C8orf40_000020" "g.42329781_42329793del" "" "" "" "SLC20A2(NM_006749.5):c.118_130delGGTGTGGTGACCT (p.G40*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888361" "0" "90" "8" "42329781" "42329793" "del" "0" "02327" "C8orf40_000020" "g.42329781_42329793del" "" "" "" "SLC20A2(NM_006749.5):c.118_130delGGTGTGGTGACCT (p.G40*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965000" "0" "50" "8" "42323430" "42323430" "subst" "6.59011E-5" "02329" "C8orf40_000021" "g.42323430C>T" "" "" "" "SLC20A2(NM_001257180.2):c.295G>A (p.A99T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965001" "0" "90" "8" "42329781" "42329793" "del" "0" "02329" "C8orf40_000020" "g.42329781_42329793del" "" "" "" "SLC20A2(NM_006749.5):c.118_130delGGTGTGGTGACCT (p.G40*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000985281" "0" "90" "8" "42302213" "42302213" "dup" "0" "03544" "SLC20A2_000057" "g.42302213dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.42444695dup" "{CV:2098481}" "pathogenic" "ACMG" "0000997195" "0" "30" "8" "42295041" "42295041" "subst" "4.0841E-6" "01804" "C8orf40_000022" "g.42295041G>A" "" "" "" "SLC20A2(NM_001257180.1):c.989C>T (p.(Thr330Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997196" "0" "50" "8" "42297000" "42297000" "subst" "4.06762E-6" "01804" "C8orf40_000023" "g.42297000G>A" "" "" "" "SLC20A2(NM_001257180.1):c.902C>T (p.(Thr301Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022223" "0" "70" "8" "42323298" "42323298" "subst" "0" "04796" "SLC20A2_000058" "g.42323298T>C" "" "" "" "" "effect on RNA exclusion of exon" "Germline/De novo (untested)" "" "" "0" "" "" "g.42465780T>C" "" "likely pathogenic" "" "0001053005" "0" "50" "8" "42275422" "42275422" "subst" "0" "01804" "C8orf40_000024" "g.42275422G>A" "" "" "" "SLC20A2(NM_001257180.2):c.1858C>T (p.(Arg620Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001061674" "0" "90" "8" "42329827" "42329827" "subst" "" "00006" "chr8_006041" "g.42329827C>T" "" "{PMID:Zech 2020:33098801}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42472309C>T" "" "pathogenic (dominant)" "" ## 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 SLC20A2 ## Count = 107 "{{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}}" "0000089490" "00024104" "90" "-264" "-1" "289" "1" "c.(-265+1_-264-1)_(289+1_290-1)del" "r.(-264_289del)" "p.0?" "1i_2i" "0000089491" "00024104" "90" "431" "-1" "516" "1" "c.(430+1_431-1)_(516+1_517-1)del" "r.(431_516del)" "p.(Val144Glyfs*85)" "3i_4i" "0000089492" "00024104" "90" "431" "-1" "613" "1" "c.(430+1_431-1)_(613+1_614-1)del" "r.(431_613del)" "p.(Ala145_Val205del)" "3i_5i" "0000174144" "00024104" "70" "124" "0" "126" "0" "c.124_126del" "r.(?)" "p.(=)" "2" "0000174145" "00024104" "70" "1409" "0" "1409" "0" "c.1409del" "r.(?)" "p.(Pro470Leufs*38)" "8" "0000174146" "00024104" "70" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Gly498Arg)" "8" "0000174147" "00024104" "70" "1723" "0" "1723" "0" "c.1723G>A" "r.(?)" "p.(Glu575Lys)" "10" "0000174148" "00024104" "70" "1784" "0" "1784" "0" "c.1784C>T" "r.(?)" "p.(Thr595Met)" "10" "0000174149" "00024104" "70" "1802" "0" "1802" "0" "c.1802C>G" "r.(?)" "p.(Ser601Trp)" "11" "0000174150" "00024104" "70" "1802" "0" "1802" "0" "c.1802C>T" "r.(?)" "p.(Ser601Leu)" "11" "0000249973" "00024104" "30" "58" "0" "58" "0" "c.58T>C" "r.(?)" "p.(Leu20=)" "" "0000250445" "00024104" "30" "431" "-11" "431" "-11" "c.431-11del" "r.(=)" "p.(=)" "" "0000254064" "00024104" "30" "58" "0" "58" "0" "c.58T>C" "r.(?)" "p.(Leu20=)" "" "0000298250" "00024104" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.(Tyr311=)" "" "0000299499" "00024104" "10" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(His336=)" "" "0000299500" "00024104" "30" "1011" "0" "1011" "0" "c.1011C>A" "r.(?)" "p.(Thr337=)" "" "0000299501" "00024104" "30" "1254" "0" "1254" "0" "c.1254C>T" "r.(?)" "p.(Gly418=)" "" "0000299502" "00024104" "10" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Ala480Thr)" "" "0000299503" "00024104" "30" "1572" "0" "1572" "0" "c.1572C>T" "r.(?)" "p.(Gly524=)" "" "0000299504" "00024104" "10" "1812" "0" "1812" "0" "c.1812C>T" "r.(?)" "p.(Ala604=)" "" "0000299505" "00024104" "30" "290" "-13" "290" "-13" "c.290-13C>A" "r.(=)" "p.(=)" "" "0000299506" "00024104" "10" "345" "0" "345" "0" "c.345G>A" "r.(?)" "p.(Thr115=)" "" "0000299507" "00024104" "30" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Ala303=)" "" "0000299508" "00024104" "10" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Ser)" "" "0000308264" "00024104" "10" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(His336=)" "" "0000308265" "00024104" "10" "1011" "0" "1011" "0" "c.1011C>A" "r.(?)" "p.(Thr337=)" "" "0000308266" "00024104" "50" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Asp364Asn)" "" "0000308267" "00024104" "10" "1254" "0" "1254" "0" "c.1254C>T" "r.(?)" "p.(Gly418=)" "" "0000308268" "00024104" "30" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Ala457Thr)" "" "0000308269" "00024104" "10" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Ala480Thr)" "" "0000308270" "00024104" "30" "1580" "0" "1580" "0" "c.1580C>T" "r.(?)" "p.(Thr527Met)" "" "0000308271" "00024104" "30" "1812" "0" "1812" "0" "c.1812C>T" "r.(?)" "p.(Ala604=)" "" "0000308272" "00024104" "30" "345" "0" "345" "0" "c.345G>A" "r.(?)" "p.(Thr115=)" "" "0000308273" "00024104" "50" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Asn178Ser)" "" "0000308274" "00024104" "50" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Arg181Trp)" "" "0000308275" "00024104" "50" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Arg181Gln)" "" "0000308276" "00024104" "50" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Arg254Gln)" "" "0000308277" "00024104" "30" "777" "0" "777" "0" "c.777C>G" "r.(?)" "p.(Ser259Arg)" "" "0000308278" "00024104" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Ser283=)" "" "0000308279" "00024104" "10" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Ala303=)" "" "0000308280" "00024104" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.(Tyr311=)" "" "0000338063" "00024104" "10" "-305" "0" "-305" "0" "c.-305G>A" "r.(?)" "p.(=)" "" "0000340750" "00024104" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Gln46=)" "" "0000341505" "00024104" "70" "1754" "0" "1754" "0" "c.1754C>T" "r.(?)" "p.(Ala585Val)" "" "0000342775" "00024104" "50" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381Cys)" "" "0000346363" "00024104" "50" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(His116Arg)" "" "0000348508" "00024104" "50" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Pro568Leu)" "" "0000411093" "00024104" "90" "71" "0" "71" "0" "c.71T>C" "r.(?)" "p.(Val24Ala)" "2" "0000411094" "00024104" "70" "146" "0" "150" "0" "c.146_150del" "r.(?)" "p.(Ile49Serfs*5)" "2" "0000411095" "00024104" "70" "207" "0" "207" "0" "c.207del" "r.(?)" "p.(Ile70Phefs*8)" "2" "0000411096" "00024104" "90" "332" "0" "332" "0" "c.332C>T" "r.(?)" "p.(Pro111Leu)" "3" "0000411097" "00024104" "70" "730" "1" "730" "1" "c.730+1G>A" "r.spl" "p.?" "6i" "0000411098" "00024104" "70" "1157" "0" "1157" "0" "c.1157dup" "r.(?)" "p.(Tyr386*)" "8" "0000411099" "00024104" "70" "1197" "0" "1198" "0" "c.1197_1198insA" "r.(?)" "p.(Ala400Serfs*15)" "8" "0000411100" "00024104" "70" "1330" "0" "1330" "0" "c.1330del" "r.(?)" "p.(Glu444Argfs*11)" "8" "0000411101" "00024104" "90" "1640" "0" "1640" "0" "c.1640G>C" "r.(?)" "p.(Gly547Ala)" "9" "0000411102" "00024104" "70" "1673" "0" "1673" "0" "c.1673C>T" "r.(?)" "p.(Thr558Ile)" "9" "0000411103" "00024104" "70" "1673" "0" "1673" "0" "c.1673C>T" "r.(?)" "p.(Thr558Ile)" "9" "0000411104" "00024104" "70" "1787" "0" "1787" "0" "c.1787A>G" "r.(?)" "p.(His596Arg)" "10" "0000411105" "00024104" "70" "1794" "1" "1794" "1" "c.1794+1G>T" "r.spl?" "p.?" "10i" "0000411106" "00024104" "70" "1794" "1" "1794" "1" "c.1794+1G>T" "r.spl?" "p.?" "10i" "0000411107" "00024104" "70" "1810" "0" "1810" "0" "c.1810G>C" "r.(?)" "p.(Ala604Pro)" "11" "0000411108" "00024104" "70" "1811" "0" "1811" "0" "c.1811C>T" "r.(?)" "p.(Ala604Val)" "11" "0000411109" "00024104" "70" "1811" "0" "1811" "0" "c.1811C>T" "r.(?)" "p.(Ala604Val)" "11" "0000455456" "00024104" "90" "0" "0" "0" "0" "c.0" "r.0?" "p.0?" "_1_11_" "0000455463" "00024104" "30" "799" "0" "799" "0" "c.799G>C" "r.(?)" "p.(Glu267Gln)" "7" "0000455464" "00024104" "90" "614" "-1" "730" "1" "c.(613+1_614-1)_(730+1_731-1)del" "r.?" "p.?" "5i_6i" "0000455465" "00024104" "70" "-264" "-1" "289" "1" "c.(-265+1_-264-1)_(289+1_290-1)del" "r.0?" "p.0?" "1i_2i" "0000534831" "00024104" "30" "1860" "0" "1860" "0" "c.1860G>C" "r.(?)" "p.(Arg620=)" "" "0000534832" "00024104" "30" "1803" "0" "1803" "0" "c.1803G>C" "r.(?)" "p.(Ser601=)" "" "0000534833" "00024104" "30" "1752" "0" "1752" "0" "c.1752C>T" "r.(?)" "p.(Ile584=)" "" "0000534834" "00024104" "30" "1518" "0" "1518" "0" "c.1518C>T" "r.(?)" "p.(Asp506=)" "" "0000534835" "00024104" "30" "1377" "0" "1377" "0" "c.1377G>T" "r.(?)" "p.(Glu459Asp)" "" "0000534836" "00024104" "90" "1158" "0" "1158" "0" "c.1158C>A" "r.(?)" "p.(Tyr386Ter)" "" "0000534837" "00024104" "30" "1134" "0" "1134" "0" "c.1134G>T" "r.(?)" "p.(Arg378=)" "" "0000534838" "00024104" "50" "998" "0" "998" "0" "c.998T>G" "r.(?)" "p.(Phe333Cys)" "" "0000534839" "00024104" "30" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.(Tyr311=)" "" "0000534840" "00024104" "30" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308Gln)" "" "0000534841" "00024104" "30" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Gly304Ser)" "" "0000534842" "00024104" "30" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Ser298=)" "" "0000534843" "00024104" "50" "581" "0" "581" "0" "c.581A>G" "r.(?)" "p.(Asn194Ser)" "" "0000534844" "00024104" "50" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Thr115Met)" "" "0000534845" "00024104" "70" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Thr115Met)" "" "0000611618" "00024104" "30" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Ser339Asn)" "" "0000611619" "00024104" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Gln46=)" "" "0000622064" "00024104" "30" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(Ser59=)" "" "0000652493" "00024104" "30" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Ala480Thr)" "" "0000670014" "00024104" "30" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Ala480Thr)" "" "0000675116" "00024104" "90" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Cys)" "" "0000690270" "00024104" "50" "568" "0" "568" "0" "c.568A>G" "r.(?)" "p.(Thr190Ala)" "" "0000690271" "00024104" "90" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Thr115Met)" "" "0000721993" "00024104" "50" "1795" "-16" "1795" "-16" "c.1795-16A>G" "r.(=)" "p.(=)" "" "0000721994" "00024104" "90" "1462" "0" "1463" "0" "c.1462_1463insTG" "r.(?)" "p.(His488LeufsTer21)" "" "0000721995" "00024104" "90" "1158" "0" "1158" "0" "c.1158C>A" "r.(?)" "p.(Tyr386Ter)" "" "0000803654" "00024104" "50" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.(Arg609His)" "" "0000803655" "00024104" "50" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Arg181Gln)" "" "0000803656" "00024104" "30" "43" "0" "43" "0" "c.43A>G" "r.(?)" "p.(Ile15Val)" "" "0000851927" "00024104" "90" "118" "0" "130" "0" "c.118_130del" "r.(?)" "p.(Gly40*)" "" "0000888361" "00024104" "90" "118" "0" "130" "0" "c.118_130del" "r.(?)" "p.(Gly40*)" "" "0000965000" "00024104" "50" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Ala99Thr)" "" "0000965001" "00024104" "90" "118" "0" "130" "0" "c.118_130del" "r.(?)" "p.(Gly40*)" "" "0000985281" "00024104" "90" "687" "0" "687" "0" "c.687dup" "r.(?)" "p.(Val230Cysfs*28)" "6" "0000997195" "00024104" "30" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Thr330Ile)" "" "0000997196" "00024104" "50" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Thr301Ile)" "" "0001022223" "00024104" "70" "427" "0" "427" "0" "c.427A>G" "r.[427_430del,=]" "p.[Ile143LeufsTer27,=]" "3" "0001053005" "00024104" "50" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620Trp)" "" "0001061674" "00024104" "90" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Asp28Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{variantid}}" "0000058801" "0000089490" "0000058802" "0000089491" "0000058803" "0000089492" "0000108240" "0000174144" "0000108241" "0000174145" "0000108242" "0000174146" "0000108243" "0000174147" "0000108244" "0000174148" "0000108245" "0000174149" "0000108246" "0000174150" "0000185581" "0000411093" "0000185582" "0000411094" "0000185583" "0000411095" "0000185584" "0000411096" "0000185585" "0000411097" "0000185586" "0000411098" "0000185587" "0000411099" "0000185588" "0000411100" "0000185589" "0000411101" "0000185590" "0000411102" "0000185591" "0000411103" "0000185592" "0000411104" "0000185593" "0000411105" "0000185594" "0000411106" "0000185595" "0000411107" "0000185596" "0000411108" "0000185597" "0000411109" "0000223818" "0000455456" "0000223819" "0000455464" "0000223823" "0000455463" "0000223824" "0000455465" "0000295804" "0000652493" "0000306326" "0000670014" "0000308228" "0000675116" "0000451411" "0000985281" "0000462696" "0001022223" "0000472930" "0001061674"