### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC39A13) # 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}}" "SLC39A13" "solute carrier family 39 (zinc transporter), member 13" "11" "p11.2" "unknown" "NC_000011.9" "UD_132084425135" "" "https://www.LOVD.nl/SLC39A13" "" "1" "20859" "91252" "608735" "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/SLC39A13_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

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" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2024-02-13 14:29:12" "00000" "2025-05-05 21:14:00" ## 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}}" "00025861" "SLC39A13" "transcript variant 1" "003" "NM_001128225.2" "" "NP_001121697.1" "" "" "" "-176" "2253" "1116" "47430046" "47438051" "00006" "2023-10-19 09:21:06" "" "" ## 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}}" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03127" "EDSSPD3" "Ehlers-Danlos syndrome, spondylodysplastic, type 3" "AR" "612350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:59:41" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC39A13" "00169" "SLC39A13" "03127" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00290443" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290444" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00290443" "00198" "00290444" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00169, 00198, 03127 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291611" "00290443" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291612" "00290444" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 33 "{{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}}" "0000250172" "0" "10" "11" "47431703" "47431703" "subst" "0.107915" "02329" "SLC39A13_000002" "g.47431703A>G" "" "" "" "SLC39A13(NM_001128225.3):c.58A>G (p.T20A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47410152A>G" "" "benign" "" "0000299542" "0" "30" "11" "47436707" "47436707" "subst" "0.000627762" "02329" "SLC39A13_000010" "g.47436707C>T" "" "" "" "SLC39A13(NM_001128225.2):c.1037C>T (p.(Pro346Leu)), SLC39A13(NM_001128225.3):c.1037C>T (p.P346L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47415156C>T" "" "likely benign" "" "0000299543" "0" "10" "11" "47431764" "47431764" "subst" "0.0133398" "02329" "SLC39A13_000003" "g.47431764G>A" "" "" "" "SLC39A13(NM_001128225.3):c.119G>A (p.R40Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47410213G>A" "" "benign" "" "0000299544" "0" "10" "11" "47431961" "47431961" "subst" "0.197148" "02329" "SLC39A13_000004" "g.47431961G>A" "" "" "" "SLC39A13(NM_001128225.3):c.301+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47410410G>A" "" "benign" "" "0000299545" "0" "10" "11" "47431966" "47431966" "subst" "0.310321" "02329" "SLC39A13_000005" "g.47431966C>T" "" "" "" "SLC39A13(NM_001128225.3):c.301+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47410415C>T" "" "benign" "" "0000299546" "0" "30" "11" "47433573" "47433573" "subst" "0.00220607" "02329" "SLC39A13_000006" "g.47433573C>T" "" "" "" "SLC39A13(NM_001128225.2):c.398C>T (p.(Thr133Met)), SLC39A13(NM_001128225.3):c.398C>T (p.T133M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47412022C>T" "" "likely benign" "" "0000299547" "0" "10" "11" "47433884" "47433884" "subst" "0.000975406" "02329" "SLC39A13_000007" "g.47433884C>T" "" "" "" "SLC39A13(NM_001128225.3):c.416-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47412333C>T" "" "benign" "" "0000299548" "0" "30" "11" "47434984" "47434984" "subst" "0.000117907" "02329" "SLC39A13_000008" "g.47434984G>A" "" "" "" "SLC39A13(NM_001128225.2):c.571G>A (p.(Ala191Thr)), SLC39A13(NM_001128225.3):c.571G>A (p.A191T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47413433G>A" "" "likely benign" "" "0000299549" "0" "10" "11" "47434986" "47434986" "subst" "0.309896" "02329" "SLC39A13_000009" "g.47434986G>A" "" "" "" "SLC39A13(NM_001128225.3):c.573G>A (p.A191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47413435G>A" "" "benign" "" "0000544499" "0" "10" "11" "47431728" "47431728" "subst" "0.988271" "02325" "SLC39A13_000011" "g.47431728A>G" "" "" "" "SLC39A13(NM_001128225.3):c.83A>G (p.E28G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47410177A>G" "" "benign" "" "0000544500" "0" "10" "11" "47431728" "47431728" "subst" "0.988271" "02329" "SLC39A13_000011" "g.47431728A>G" "" "" "" "SLC39A13(NM_001128225.3):c.83A>G (p.E28G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47410177A>G" "" "benign" "" "0000544502" "0" "30" "11" "47433607" "47433607" "subst" "5.69444E-5" "02329" "SLC39A13_000013" "g.47433607G>A" "" "" "" "SLC39A13(NM_001128225.3):c.415+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47412056G>A" "" "likely benign" "" "0000544503" "0" "30" "11" "47433920" "47433920" "subst" "0.00172743" "02329" "SLC39A13_000014" "g.47433920C>G" "" "" "" "SLC39A13(NM_001128225.2):c.439C>G (p.(Gln147Glu)), SLC39A13(NM_001128225.3):c.439C>G (p.Q147E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47412369C>G" "" "likely benign" "" "0000544505" "0" "30" "11" "47435978" "47435978" "subst" "0" "01804" "PSMC3_000002" "g.47435978C>T" "" "" "" "SLC39A13(NM_001128225.2):c.738C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47414427C>T" "" "likely benign" "" "0000544506" "0" "30" "11" "47436467" "47436467" "subst" "6.58555E-5" "02329" "PSMC3_000003" "g.47436467G>A" "" "" "" "SLC39A13(NM_001128225.3):c.919+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47414916G>A" "" "likely benign" "" "0000544507" "0" "30" "11" "47436476" "47436476" "subst" "8.31878E-6" "02329" "PSMC3_000004" "g.47436476G>A" "" "" "" "SLC39A13(NM_001128225.3):c.919+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47414925G>A" "" "likely benign" "" "0000648300" "1" "10" "11" "47431764" "47431764" "subst" "0.0133398" "03575" "SLC39A13_000003" "g.47431764G>A" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs35741412}" "Germline" "" "rs35741412" "0" "" "" "g.47410213G>A" "" "benign" "" "0000648301" "1" "50" "11" "47433573" "47433573" "subst" "0.00220607" "03575" "SLC39A13_000006" "g.47433573C>T" "14/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; {DB:CLININrs140574574}" "Germline" "" "rs140574574" "0" "" "" "g.47412022C>T" "" "VUS" "" "0000723483" "0" "30" "11" "47431907" "47431907" "subst" "0" "01804" "SLC39A13_000016" "g.47431907G>A" "" "" "" "SLC39A13(NM_001128225.2):c.262G>A (p.(Val88Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47410356G>A" "" "likely benign" "" "0000723484" "0" "30" "11" "47435029" "47435029" "subst" "2.44411E-5" "01804" "SLC39A13_000017" "g.47435029G>A" "" "" "" "SLC39A13(NM_001128225.2):c.616G>A (p.(Gly206Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47413478G>A" "" "likely benign" "" "0000805176" "0" "10" "11" "47433573" "47433573" "subst" "0.00220607" "01804" "SLC39A13_000006" "g.47433573C>T" "" "" "" "SLC39A13(NM_001128225.2):c.398C>T (p.(Thr133Met)), SLC39A13(NM_001128225.3):c.398C>T (p.T133M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47412022C>T" "" "benign" "" "0000805177" "0" "30" "11" "47433973" "47433973" "subst" "9.75071E-5" "01943" "SLC39A13_000018" "g.47433973G>T" "" "" "" "SLC39A13(NM_001128225.2):c.492G>T (p.A164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47412422G>T" "" "likely benign" "" "0000889971" "0" "50" "11" "47431757" "47431757" "subst" "0.0001713" "01804" "SLC39A13_000019" "g.47431757C>T" "" "" "" "SLC39A13(NM_001128225.2):c.112C>T (p.(Arg38Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47410206C>T" "" "VUS" "" "0000889972" "0" "30" "11" "47433920" "47433920" "subst" "0.00172743" "01804" "SLC39A13_000014" "g.47433920C>G" "" "" "" "SLC39A13(NM_001128225.2):c.439C>G (p.(Gln147Glu)), SLC39A13(NM_001128225.3):c.439C>G (p.Q147E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47412369C>G" "" "likely benign" "" "0000913621" "0" "30" "11" "47433500" "47433500" "subst" "2.89687E-5" "02329" "SLC39A13_000020" "g.47433500C>T" "" "" "" "SLC39A13(NM_001128225.3):c.325C>T (p.L109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47411949C>T" "" "likely benign" "" "0000949715" "0" "30" "11" "47434985" "47434985" "subst" "3.25235E-5" "01804" "SLC39A13_000021" "g.47434985C>T" "" "" "" "SLC39A13(NM_001128225.2):c.572C>T (p.(Ala191Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999124" "0" "30" "11" "47434984" "47434984" "subst" "0.000117907" "01804" "SLC39A13_000008" "g.47434984G>A" "" "" "" "SLC39A13(NM_001128225.2):c.571G>A (p.(Ala191Thr)), SLC39A13(NM_001128225.3):c.571G>A (p.A191T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999125" "0" "30" "11" "47436707" "47436707" "subst" "0.000627762" "01804" "SLC39A13_000010" "g.47436707C>T" "" "" "" "SLC39A13(NM_001128225.2):c.1037C>T (p.(Pro346Leu)), SLC39A13(NM_001128225.3):c.1037C>T (p.P346L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026026" "0" "30" "11" "47433886" "47433886" "subst" "2.11036E-5" "02329" "SLC39A13_000022" "g.47433886G>A" "" "" "" "SLC39A13(NM_001128225.3):c.416-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026027" "0" "30" "11" "47435034" "47435034" "subst" "3.66644E-5" "02329" "SLC39A13_000023" "g.47435034C>T" "" "" "" "SLC39A13(NM_001128225.3):c.621C>T (p.L207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038497" "0" "50" "11" "47433954" "47433954" "subst" "0" "01804" "SLC39A13_000024" "g.47433954G>T" "" "" "" "SLC39A13(NM_001128225.3):c.473G>T (p.(Gly158Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038498" "0" "30" "11" "47436032" "47436032" "subst" "0.000142088" "01804" "PSMC3_000021" "g.47436032C>T" "" "" "" "SLC39A13(NM_001128225.3):c.786+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038499" "0" "50" "11" "47436886" "47436886" "subst" "0" "01804" "PSMC3_000022" "g.47436886T>C" "" "" "" "SLC39A13(NM_001128225.3):c.1088T>C (p.(Met363Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 SLC39A13 ## Count = 33 "{{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}}" "0000250172" "00025861" "10" "58" "0" "58" "0" "c.58A>G" "r.(?)" "p.(Thr20Ala)" "" "0000299542" "00025861" "30" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "" "0000299543" "00025861" "10" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40Gln)" "" "0000299544" "00025861" "10" "301" "15" "301" "15" "c.301+15G>A" "r.(=)" "p.(=)" "" "0000299545" "00025861" "10" "301" "20" "301" "20" "c.301+20C>T" "r.(=)" "p.(=)" "" "0000299546" "00025861" "30" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Thr133Met)" "" "0000299547" "00025861" "10" "416" "-13" "416" "-13" "c.416-13C>T" "r.(=)" "p.(=)" "" "0000299548" "00025861" "30" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Ala191Thr)" "" "0000299549" "00025861" "10" "573" "0" "573" "0" "c.573G>A" "r.(?)" "p.(Ala191=)" "" "0000544499" "00025861" "10" "83" "0" "83" "0" "c.83=" "r.(=)" "p.(Gly28=)" "" "0000544500" "00025861" "10" "83" "0" "83" "0" "c.83=" "r.(=)" "p.(Gly28=)" "" "0000544502" "00025861" "30" "415" "17" "415" "17" "c.415+17G>A" "r.(=)" "p.(=)" "" "0000544503" "00025861" "30" "439" "0" "439" "0" "c.439C>G" "r.(?)" "p.(Gln147Glu)" "" "0000544505" "00025861" "30" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(Ile246=)" "" "0000544506" "00025861" "30" "919" "7" "919" "7" "c.919+7G>A" "r.(=)" "p.(=)" "" "0000544507" "00025861" "30" "919" "16" "919" "16" "c.919+16G>A" "r.(=)" "p.(=)" "" "0000648300" "00025861" "10" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40Gln)" "" "0000648301" "00025861" "50" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Thr133Met)" "" "0000723483" "00025861" "30" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Val88Ile)" "" "0000723484" "00025861" "30" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Gly206Ser)" "" "0000805176" "00025861" "10" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Thr133Met)" "" "0000805177" "00025861" "30" "492" "0" "492" "0" "c.492G>T" "r.(?)" "p.(Ala164=)" "" "0000889971" "00025861" "50" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Trp)" "" "0000889972" "00025861" "30" "439" "0" "439" "0" "c.439C>G" "r.(?)" "p.(Gln147Glu)" "" "0000913621" "00025861" "30" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Leu109=)" "" "0000949715" "00025861" "30" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Ala191Val)" "" "0000999124" "00025861" "30" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Ala191Thr)" "" "0000999125" "00025861" "30" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Pro346Leu)" "" "0001026026" "00025861" "30" "416" "-11" "416" "-11" "c.416-11G>A" "r.(=)" "p.(=)" "" "0001026027" "00025861" "30" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(=)" "" "0001038497" "00025861" "50" "473" "0" "473" "0" "c.473G>T" "r.(?)" "p.(Gly158Val)" "" "0001038498" "00025861" "30" "786" "6" "786" "6" "c.786+6C>T" "r.(=)" "p.(=)" "" "0001038499" "00025861" "50" "1088" "0" "1088" "0" "c.1088T>C" "r.(?)" "p.(Met363Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000291611" "0000648300" "0000291612" "0000648301"