### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC39A4) # 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}}" "SLC39A4" "solute carrier family 39 (zinc transporter), member 4" "8" "q24.3" "unknown" "NG_012234.2" "UD_132118436996" "" "http://www.LOVD.nl/SLC39A4" "" "1" "17129" "55630" "607059" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/SLC39A4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-01-16 14:00:43" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00024005" "SLC39A4" "transcript variant 2" "001" "NM_130849.2" "" "NP_570901.2" "" "" "" "-100" "2068" "1944" "145642273" "145637798" "00006" "2015-01-16 13:59:06" "" "" "00024014" "SLC39A4" "transcript variant 1" "002" "NM_017767.2" "" "NP_060237.2" "" "" "" "-325" "1993" "1869" "145641917" "145637798" "01197" "2015-01-26 11:16:30" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01621" "AEZ" "acrodermatitis enteropathica, Zinc deficiency (AEZ)" "AR" "201100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC39A4" "01621" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00029641" "" "" "" "11" "" "01197" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}" "4-generation family, 11 affecteds, 5 unaffected heterozygous carriers" "" "yes" "Tunisia" "" "0" "" "" "" "" "00029642" "" "" "" "2" "" "01197" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}" "4-generation family, 2 affecteds, 5 unaffected heterozygous carriers" "M" "yes" "Tunisia" "" "0" "" "" "" "" "00029643" "" "" "" "1" "" "01197" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "France" "" "0" "" "" "" "" "00029644" "" "" "" "1" "" "01197" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}" "2-generation family, 1 affected, unaffected carrier parents/brother" "F" "no" "France" "" "0" "" "" "" "" "00029645" "" "" "" "2" "" "01197" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}" "2-generation family, 2 affected brothers" "M" "no" "France" "" "0" "" "" "" "" "00029646" "" "" "" "2" "" "01197" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}" "2-generation family, affected brother/sister" "" "no" "France" "" "0" "" "" "" "" "00029647" "" "" "" "2" "" "01197" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}" "2-generation family, 2 affected brothers" "M" "no" "France" "" "0" "" "" "" "" "00029648" "" "" "" "1" "" "01197" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}" "2-generation family, 1 affected" "M" "no" "France" "" "0" "" "" "" "" "00294595" "" "" "" "1" "" "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 = 9 "{{individualid}}" "{{diseaseid}}" "00029641" "01621" "00029642" "01621" "00029643" "01621" "00029644" "01621" "00029645" "01621" "00029646" "01621" "00029647" "01621" "00029648" "01621" "00294595" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01621 ## Count = 8 "{{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}}" "0000025664" "01621" "00029641" "01197" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025665" "01621" "00029642" "01197" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025666" "01621" "00029643" "01197" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025667" "01621" "00029644" "01197" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025668" "01621" "00029645" "01197" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025669" "01621" "00029646" "01197" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025670" "01621" "00029647" "01197" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025671" "01621" "00029648" "01197" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029684" "00029641" "1" "01197" "00006" "2015-01-23 17:06:08" "" "" "SEQ" "DNA" "" "" "0000029685" "00029642" "1" "01197" "00006" "2015-01-23 17:55:17" "" "" "SEQ" "DNA" "" "" "0000029686" "00029643" "1" "01197" "00006" "2015-01-23 17:55:17" "" "" "SEQ" "DNA" "" "" "0000029687" "00029644" "1" "01197" "00006" "2015-01-23 17:55:17" "" "" "SEQ" "DNA" "" "" "0000029688" "00029645" "1" "01197" "00006" "2015-01-23 17:55:17" "" "" "SEQ" "DNA" "" "" "0000029689" "00029646" "1" "01197" "00006" "2015-01-23 17:55:17" "" "" "SEQ" "DNA" "" "" "0000029690" "00029647" "1" "01197" "00006" "2015-01-23 17:55:17" "" "" "SEQ" "DNA" "" "" "0000029691" "00029648" "1" "01197" "00006" "2015-01-23 17:55:17" "" "" "SEQ" "DNA" "" "" "0000295763" "00294595" "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 = 8 "{{screeningid}}" "{{geneid}}" "0000029684" "SLC39A4" "0000029685" "SLC39A4" "0000029686" "SLC39A4" "0000029687" "SLC39A4" "0000029688" "SLC39A4" "0000029689" "SLC39A4" "0000029690" "SLC39A4" "0000029691" "SLC39A4" ## 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 = 90 "{{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}}" "0000053064" "3" "99" "8" "145639404" "145639408" "del" "0" "01197" "SLC39A4_000001" "g.145639404_145639408del" "" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}, {OMIM607059:0001}" "" "1223–1227delCCGGG" "" "Germline" "yes" "" "0" "" "" "g.144414020_144414024del" "" "pathogenic" "" "0000053065" "3" "99" "8" "145639404" "145639408" "del" "0" "01197" "SLC39A4_000001" "g.145639404_145639408del" "" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}, {OMIM607059:0001}" "" "1223–1227delCCGGG" "" "Germline" "yes" "" "0" "" "" "g.144414020_144414024del" "" "pathogenic" "" "0000053066" "1" "99" "8" "145640115" "145640118" "del" "0" "01197" "SLC39A4_000002" "g.145640115_145640118del" "" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}, {OMIM607059:0002}" "" "968–971delAGCT" "" "Germline" "yes" "" "0" "" "" "g.144414731_144414734del" "" "pathogenic" "" "0000053067" "3" "77" "8" "145640822" "145640822" "subst" "0" "01197" "SLC39A4_000003" "g.145640822C>T" "" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}, {OMIM607059:0003}" "" "IVS1–19G>A, no RNA available; variant not in reference sequence" "not in 200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.144415438C>T" "" "likely pathogenic" "" "0000053068" "3" "77" "8" "145640679" "145640679" "subst" "0.000134475" "01197" "SLC39A4_000004" "g.145640679G>A" "" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}, {OMIM607059:0004}" "" "" "not in 200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.144415295G>A" "" "likely pathogenic" "" "0000053069" "3" "77" "8" "145640679" "145640679" "subst" "0.000134475" "01197" "SLC39A4_000004" "g.145640679G>A" "" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}, {OMIM607059:0004}" "" "" "not in 200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.144415295G>A" "" "likely pathogenic" "" "0000053070" "3" "77" "8" "145638672" "145638672" "subst" "0" "01197" "SLC39A4_000005" "g.145638672C>T" "" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}, {OMIM607059:0005}" "" "" "not in 200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.144413288C>T" "" "likely pathogenic" "" "0000053071" "3" "77" "8" "145639675" "145639675" "subst" "2.14985E-5" "01197" "SLC39A4_000006" "g.145639675C>T" "" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}, {OMIM607059:0006}" "" "" "not in 200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.144414291C>T" "" "likely pathogenic" "" "0000053072" "2" "77" "8" "145640822" "145640822" "subst" "0" "01197" "SLC39A4_000003" "g.145640822C>T" "" "{PMID:Küry 2002:12068297}, {DOI:Küry 2002:10.1038/ng913}, {OMIM607059:0003}" "" "IVS1–19G>A, no RNA available; variant not in reference sequence" "not in 200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.144415438C>T" "" "likely pathogenic" "" "0000248225" "0" "10" "8" "145640411" "145640411" "subst" "0.967373" "02325" "SLC39A4_000010" "g.145640411A>G" "" "" "" "SLC39A4(NM_017767.3):c.676T>C (p.W226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144415027=" "" "benign" "" "0000250928" "0" "10" "8" "145640411" "145640411" "subst" "0.967373" "02326" "SLC39A4_000010" "g.145640411A>G" "" "" "" "SLC39A4(NM_017767.3):c.676T>C (p.W226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144415027=" "" "benign" "" "0000253712" "0" "10" "8" "145641513" "145641513" "subst" "0.00238889" "01943" "SLC39A4_000014" "g.145641513A>G" "" "" "" "SLC39A4(NM_017767.2):c.80T>C (p.V27A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144416129A>G" "" "benign" "" "0000256287" "0" "50" "8" "145641591" "145641591" "subst" "9.30267E-5" "01943" "SLC39A4_000015" "g.145641591A>C" "" "" "" "SLC39A4(NM_017767.2):c.2T>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144416207A>C" "" "VUS" "" "0000298309" "0" "10" "8" "145639726" "145639726" "subst" "0.520375" "02325" "SLC39A4_000007" "g.145639726T>C" "" "" "" "SLC39A4(NM_017767.3):c.994A>G (p.T332A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144414342T>C" "" "benign" "" "0000302239" "0" "30" "8" "145641417" "145641417" "subst" "0.0289765" "02326" "SLC39A4_000013" "g.145641417G>A" "" "" "" "SLC39A4(NM_017767.3):c.176C>T (p.P59L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144416033G>A" "" "likely benign" "" "0000308449" "0" "30" "8" "145641411" "145641411" "subst" "0.00207795" "01943" "SLC39A4_000012" "g.145641411G>A" "" "" "" "SLC39A4(NM_001280557.1):c.-2535C>T (p.(=)), SLC39A4(NM_017767.2):c.182C>T (p.P61L), SLC39A4(NM_130849.4):c.257C>T (p.P86L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144416027G>A" "" "likely benign" "" "0000308450" "0" "30" "8" "145640738" "145640738" "subst" "0.000280454" "01943" "SLC39A4_000011" "g.145640738G>A" "" "" "" "SLC39A4(NM_017767.2):c.465C>T (p.G155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144415354G>A" "" "likely benign" "" "0000308451" "0" "30" "8" "145640349" "145640349" "subst" "0.000175286" "01943" "SLC39A4_000009" "g.145640349G>A" "" "" "" "SLC39A4(NM_017767.2):c.729+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144414965G>A" "" "likely benign" "" "0000308452" "0" "50" "8" "145640216" "145640216" "subst" "0.000154581" "01943" "SLC39A4_000008" "g.145640216G>A" "" "" "" "SLC39A4(NM_017767.2):c.794C>T (p.P265L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144414832G>A" "" "VUS" "" "0000332445" "0" "50" "8" "145641411" "145641411" "subst" "0.00207795" "01804" "SLC39A4_000012" "g.145641411G>A" "" "" "" "SLC39A4(NM_001280557.1):c.-2535C>T (p.(=)), SLC39A4(NM_017767.2):c.182C>T (p.P61L), SLC39A4(NM_130849.4):c.257C>T (p.P86L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144416027G>A" "" "VUS" "" "0000341507" "0" "10" "8" "145642002" "145642002" "subst" "0.506395" "02327" "SLC39A4_000018" "g.145642002C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144416618C>T" "" "benign" "" "0000341619" "0" "30" "8" "145641328" "145641328" "subst" "0.458654" "02327" "SLC39A4_000017" "g.145641328C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144415944C>T" "" "likely benign" "" "0000349469" "0" "10" "8" "145639726" "145639726" "subst" "0.520375" "02327" "SLC39A4_000007" "g.145639726T>C" "" "" "" "SLC39A4(NM_017767.3):c.994A>G (p.T332A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144414342T>C" "" "benign" "" "0000534222" "0" "30" "8" "145638215" "145638215" "subst" "0.000731687" "01943" "CPSF1_000009" "g.145638215G>A" "" "" "" "SLC39A4(NM_017767.2):c.1668C>T (p.V556=), SLC39A4(NM_130849.4):c.1743C>T (p.V581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144412831G>A" "" "likely benign" "" "0000534223" "0" "50" "8" "145638659" "145638659" "subst" "0" "01943" "CPSF1_000010" "g.145638659G>A" "" "" "" "SLC39A4(NM_017767.2):c.1514C>T (p.S505L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144413275G>A" "" "VUS" "" "0000534224" "0" "50" "8" "145638739" "145638739" "subst" "3.46503E-5" "02325" "CPSF1_000011" "g.145638739G>A" "" "" "" "SLC39A4(NM_017767.3):c.1434C>T (p.G478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144413355G>A" "" "VUS" "" "0000534225" "0" "50" "8" "145638740" "145638740" "subst" "3.02373E-5" "02325" "CPSF1_000012" "g.145638740C>A" "" "" "" "SLC39A4(NM_017767.3):c.1433G>T (p.G478V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144413356C>A" "" "VUS" "" "0000534226" "0" "30" "8" "145638753" "145638753" "subst" "0.000864925" "01943" "CPSF1_000013" "g.145638753T>C" "" "" "" "SLC39A4(NM_001280557.1):c.1A>G (p.M1?), SLC39A4(NM_130849.4):c.1495A>G (p.M499V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144413369T>C" "" "likely benign" "" "0000534227" "0" "30" "8" "145638933" "145638933" "subst" "1.35095E-5" "01943" "CPSF1_000014" "g.145638933C>T" "" "" "" "SLC39A4(NM_017767.2):c.1363G>A (p.E455K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144413549C>T" "" "likely benign" "" "0000534228" "0" "30" "8" "145638945" "145638945" "subst" "0.000500789" "01943" "CPSF1_000015" "g.145638945C>T" "" "" "" "SLC39A4(NM_017767.2):c.1351G>A (p.E451K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144413561C>T" "" "likely benign" "" "0000534229" "0" "30" "8" "145639157" "145639157" "subst" "0.000243022" "01943" "CPSF1_000016" "g.145639157G>T" "" "" "" "SLC39A4(NM_017767.2):c.1321C>A (p.H441N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144413773G>T" "" "likely benign" "" "0000534230" "0" "30" "8" "145639638" "145639638" "subst" "7.31214E-5" "01943" "CPSF1_000017" "g.145639638G>A" "" "" "" "SLC39A4(NM_017767.2):c.1074+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144414254G>A" "" "likely benign" "" "0000534231" "0" "50" "8" "145639669" "145639669" "subst" "0.000698797" "01943" "CPSF1_000018" "g.145639669C>T" "" "" "" "SLC39A4(NM_017767.2):c.1051G>A (p.A351T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144414285C>T" "" "VUS" "" "0000534232" "0" "70" "8" "145639675" "145639675" "subst" "2.14985E-5" "02326" "SLC39A4_000006" "g.145639675C>T" "" "" "" "SLC39A4(NM_130849.4):c.1120G>A (p.G374R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144414291C>T" "" "likely pathogenic" "" "0000534233" "0" "30" "8" "145639741" "145639741" "subst" "0" "01943" "SLC39A4_000019" "g.145639741C>T" "" "" "" "SLC39A4(NM_017767.2):c.979G>A (p.G327S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144414357C>T" "" "likely benign" "" "0000534234" "0" "30" "8" "145639775" "145639775" "subst" "0.000174788" "01943" "SLC39A4_000020" "g.145639775G>A" "" "" "" "SLC39A4(NM_017767.2):c.945C>T (p.C315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144414391G>A" "" "likely benign" "" "0000534235" "0" "30" "8" "145639793" "145639793" "subst" "0.000103287" "01943" "SLC39A4_000021" "g.145639793C>T" "" "" "" "SLC39A4(NM_017767.2):c.927G>A (p.T309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144414409C>T" "" "likely benign" "" "0000534236" "0" "30" "8" "145640683" "145640683" "subst" "0.00130835" "01943" "SLC39A4_000022" "g.145640683A>G" "" "" "" "SLC39A4(NM_017767.2):c.520T>C (p.L174=), SLC39A4(NM_130849.4):c.595T>C (p.L199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144415299A>G" "" "likely benign" "" "0000534237" "0" "30" "8" "145640774" "145640774" "subst" "0.000378837" "01943" "SLC39A4_000023" "g.145640774C>T" "" "" "" "SLC39A4(NM_017767.2):c.429G>A (p.E143=), SLC39A4(NM_017767.3):c.429G>A (p.E143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144415390C>T" "" "likely benign" "" "0000534238" "0" "30" "8" "145640798" "145640798" "subst" "6.43181E-5" "01943" "SLC39A4_000024" "g.145640798G>A" "" "" "" "SLC39A4(NM_017767.2):c.405C>T (p.C135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144415414G>A" "" "likely benign" "" "0000534239" "0" "30" "8" "145642123" "145642123" "subst" "0" "01943" "SLC39A4_000025" "g.145642123C>T" "" "" "" "SLC39A4(NM_130849.3):c.51G>A (p.V17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144416739C>T" "" "likely benign" "" "0000611525" "0" "50" "8" "145638181" "145638181" "subst" "0.000106161" "01804" "CPSF1_000019" "g.145638181C>T" "" "" "" "SLC39A4(NM_001280557.1):c.283G>A (p.(Ala95Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144412797C>T" "" "VUS" "" "0000611526" "0" "30" "8" "145638299" "145638299" "subst" "0.00249855" "01943" "CPSF1_000020" "g.145638299C>G" "" "" "" "SLC39A4(NM_017767.2):c.1584G>C (p.L528=), SLC39A4(NM_130849.4):c.1659G>C (p.L553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144412915C>G" "" "likely benign" "" "0000611527" "0" "30" "8" "145640348" "145640348" "subst" "7.7453E-5" "01943" "SLC39A4_000027" "g.145640348C>T" "" "" "" "SLC39A4(NM_017767.2):c.729+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144414964C>T" "" "likely benign" "" "0000611528" "0" "50" "8" "145640746" "145640746" "subst" "0.00116953" "01804" "SLC39A4_000028" "g.145640746T>A" "" "" "" "SLC39A4(NM_001280557.1):c.-1870A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144415362T>A" "" "VUS" "" "0000622025" "0" "50" "8" "145639773" "145639773" "subst" "0.000128125" "01943" "SLC39A4_000026" "g.145639773G>A" "" "" "" "SLC39A4(NM_017767.2):c.947C>T (p.A316V), SLC39A4(NM_130849.4):c.1022C>T (p.A341V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144414389G>A" "" "VUS" "" "0000652452" "1" "90" "8" "145640679" "145640679" "subst" "0.000134475" "03575" "SLC39A4_000004" "g.145640679G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121434287}" "Germline" "" "rs121434287" "0" "" "" "g.144415295G>A" "" "pathogenic" "" "0000656033" "0" "30" "8" "145638254" "145638254" "subst" "0.000379804" "01943" "CPSF1_000021" "g.145638254C>T" "" "" "" "SLC39A4(NM_017767.2):c.1629G>A (p.T543=), SLC39A4(NM_017767.3):c.1629G>A (p.T543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144412870C>T" "" "likely benign" "" "0000656034" "0" "50" "8" "145640432" "145640432" "subst" "9.01669E-5" "02325" "SLC39A4_000029" "g.145640432G>A" "" "" "" "SLC39A4(NM_017767.3):c.655C>T (p.R219W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144415048G>A" "" "VUS" "" "0000656035" "0" "30" "8" "145640439" "145640439" "subst" "0.00023363" "01943" "SLC39A4_000030" "g.145640439G>A" "" "" "" "SLC39A4(NM_017767.2):c.648C>T (p.H216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144415055G>A" "" "likely benign" "" "0000656036" "0" "50" "8" "145640474" "145640474" "subst" "2.05125E-5" "01943" "SLC39A4_000031" "g.145640474G>A" "" "" "" "SLC39A4(NM_017767.2):c.613C>T (p.R205C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144415090G>A" "" "VUS" "" "0000656037" "0" "30" "8" "145640774" "145640774" "subst" "0.000378837" "02326" "SLC39A4_000023" "g.145640774C>T" "" "" "" "SLC39A4(NM_017767.2):c.429G>A (p.E143=), SLC39A4(NM_017767.3):c.429G>A (p.E143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144415390C>T" "" "likely benign" "" "0000656038" "0" "30" "8" "145641204" "145641204" "subst" "1.81524E-5" "01943" "SLC39A4_000032" "g.145641204G>A" "" "" "" "SLC39A4(NM_017767.2):c.389C>T (p.T130I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144415820G>A" "" "likely benign" "" "0000656039" "0" "50" "8" "145641996" "145641996" "subst" "0.00014083" "01943" "SLC39A4_000033" "g.145641996C>T" "" "" "" "SLC39A4(NM_130849.3):c.178G>A (p.G60R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144416612C>T" "" "VUS" "" "0000678331" "0" "30" "8" "145640093" "145640093" "subst" "0.000114944" "02326" "SLC39A4_000034" "g.145640093C>T" "" "" "" "SLC39A4(NM_017767.3):c.901+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678332" "0" "30" "8" "145641389" "145641389" "subst" "9.81851E-5" "01943" "SLC39A4_000035" "g.145641389G>A" "" "" "" "SLC39A4(NM_017767.2):c.204C>T (p.V68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678333" "0" "50" "8" "145642014" "145642014" "subst" "0.000152879" "01943" "SLC39A4_000036" "g.145642014G>A" "" "" "" "SLC39A4(NM_130849.3):c.160C>T (p.R54C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690207" "0" "30" "8" "145640292" "145640292" "subst" "0.000435356" "02326" "SLC39A4_000037" "g.145640292C>A" "" "" "" "SLC39A4(NM_017767.3):c.730-12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690208" "0" "30" "8" "145641410" "145641410" "subst" "0.000152669" "02326" "SLC39A4_000038" "g.145641410C>T" "" "" "" "SLC39A4(NM_017767.3):c.183G>A (p.P61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721863" "0" "50" "8" "145638778" "145638778" "subst" "0" "02325" "CPSF1_000027" "g.145638778G>T" "" "" "" "SLC39A4(NM_130849.4):c.1475-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721864" "0" "30" "8" "145639137" "145639137" "subst" "2.9449E-5" "01943" "CPSF1_000028" "g.145639137G>A" "" "" "" "SLC39A4(NM_017767.2):c.1341C>T (p.D447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721865" "0" "50" "8" "145639773" "145639773" "subst" "0.000128125" "02325" "SLC39A4_000026" "g.145639773G>A" "" "" "" "SLC39A4(NM_017767.2):c.947C>T (p.A316V), SLC39A4(NM_130849.4):c.1022C>T (p.A341V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721866" "0" "30" "8" "145640236" "145640236" "subst" "1.62598E-5" "02326" "SLC39A4_000039" "g.145640236C>T" "" "" "" "SLC39A4(NM_130849.4):c.849G>A (p.S283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721867" "0" "30" "8" "145640245" "145640245" "subst" "0" "02326" "SLC39A4_000040" "g.145640245A>G" "" "" "" "SLC39A4(NM_017767.3):c.765T>C (p.Y255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721868" "0" "30" "8" "145641255" "145641255" "subst" "6.39784E-5" "01943" "SLC39A4_000041" "g.145641255G>A" "" "" "" "SLC39A4(NM_017767.2):c.338C>T (p.P113L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721869" "0" "30" "8" "145641458" "145641458" "subst" "0.000115488" "01943" "SLC39A4_000042" "g.145641458G>A" "" "" "" "SLC39A4(NM_017767.2):c.135C>T (p.D45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803544" "0" "30" "8" "145634492" "145634492" "subst" "0.000508262" "01943" "CPSF1_000031" "g.145634492G>T" "" "" "" "CPSF1(NM_013291.3):c.51C>A (p.S17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803545" "0" "50" "8" "145640237" "145640237" "subst" "0.00106504" "02325" "SLC39A4_000043" "g.145640237G>A" "" "" "" "SLC39A4(NM_130849.4):c.848C>T (p.S283L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803546" "0" "30" "8" "145640683" "145640683" "subst" "0.00130835" "02326" "SLC39A4_000022" "g.145640683A>G" "" "" "" "SLC39A4(NM_017767.2):c.520T>C (p.L174=), SLC39A4(NM_130849.4):c.595T>C (p.L199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803547" "0" "30" "8" "145641520" "145641520" "subst" "4.60206E-6" "01943" "SLC39A4_000044" "g.145641520A>C" "" "" "" "SLC39A4(NM_017767.2):c.73T>G (p.S25A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851851" "0" "10" "8" "145639654" "145639654" "subst" "0.0128719" "02326" "CPSF1_000044" "g.145639654T>C" "" "" "" "SLC39A4(NM_130849.4):c.1141A>G (p.T381A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851852" "0" "30" "8" "145639792" "145639792" "subst" "1.21426E-5" "01943" "SLC39A4_000045" "g.145639792G>A" "" "" "" "SLC39A4(NM_017767.2):c.928C>T (p.L310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851853" "0" "30" "8" "145641421" "145641421" "subst" "5.00546E-6" "02326" "SLC39A4_000047" "g.145641421G>A" "" "" "" "SLC39A4(NM_130849.4):c.247C>T (p.P83S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861134" "0" "50" "8" "145639182" "145639182" "subst" "0" "01943" "CPSF1_000043" "g.145639182G>A" "" "" "" "SLC39A4(NM_017767.2):c.1296C>T (p.S432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861135" "0" "30" "8" "145640618" "145640618" "subst" "2.85493E-5" "01943" "SLC39A4_000046" "g.145640618C>T" "" "" "" "SLC39A4(NM_017767.2):c.585G>A (p.T195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861136" "0" "30" "8" "145642164" "145642164" "subst" "0.000620623" "01943" "SLC39A4_000048" "g.145642164G>A" "" "" "" "SLC39A4(NM_130849.3):c.10C>T (p.L4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888227" "0" "30" "8" "145638215" "145638215" "subst" "0.000731687" "02326" "CPSF1_000009" "g.145638215G>A" "" "" "" "SLC39A4(NM_017767.2):c.1668C>T (p.V556=), SLC39A4(NM_130849.4):c.1743C>T (p.V581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888228" "0" "50" "8" "145638254" "145638254" "subst" "0.000379804" "02329" "CPSF1_000021" "g.145638254C>T" "" "" "" "SLC39A4(NM_017767.2):c.1629G>A (p.T543=), SLC39A4(NM_017767.3):c.1629G>A (p.T543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888229" "0" "30" "8" "145638299" "145638299" "subst" "0.00249855" "02326" "CPSF1_000020" "g.145638299C>G" "" "" "" "SLC39A4(NM_017767.2):c.1584G>C (p.L528=), SLC39A4(NM_130849.4):c.1659G>C (p.L553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888230" "0" "30" "8" "145638753" "145638753" "subst" "0.000864925" "02326" "CPSF1_000013" "g.145638753T>C" "" "" "" "SLC39A4(NM_001280557.1):c.1A>G (p.M1?), SLC39A4(NM_130849.4):c.1495A>G (p.M499V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888231" "0" "30" "8" "145641329" "145641329" "subst" "0.000119283" "02326" "SLC39A4_000049" "g.145641329G>A" "" "" "" "SLC39A4(NM_130849.4):c.339C>T (p.D113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888232" "0" "30" "8" "145641344" "145641344" "subst" "5.2035E-5" "02326" "SLC39A4_000050" "g.145641344C>T" "" "" "" "SLC39A4(NM_130849.4):c.324G>A (p.E108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888233" "0" "30" "8" "145641411" "145641411" "subst" "0.00207795" "02326" "SLC39A4_000012" "g.145641411G>A" "" "" "" "SLC39A4(NM_001280557.1):c.-2535C>T (p.(=)), SLC39A4(NM_017767.2):c.182C>T (p.P61L), SLC39A4(NM_130849.4):c.257C>T (p.P86L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912909" "0" "30" "8" "145639244" "145639244" "subst" "0" "02326" "CPSF1_000049" "g.145639244C>T" "" "" "" "SLC39A4(NM_130849.4):c.1309G>A (p.G437S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912910" "0" "10" "8" "145641977" "145641977" "subst" "0.00258827" "02326" "SLC39A4_000051" "g.145641977G>T" "" "" "" "SLC39A4(NM_130849.4):c.192+5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924843" "0" "30" "8" "145641347" "145641347" "subst" "0.000857989" "02326" "SLC39A4_000052" "g.145641347G>A" "" "" "" "SLC39A4(NM_130849.4):c.321C>T (p.P107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929425" "0" "30" "8" "145638878" "145638878" "subst" "1.3068E-5" "02326" "CPSF1_000053" "g.145638878G>A" "" "" "" "SLC39A4(NM_130849.4):c.1474+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964925" "0" "30" "8" "145639494" "145639494" "subst" "0.000705661" "02326" "CPSF1_000066" "g.145639494C>T" "" "" "" "SLC39A4(NM_130849.4):c.1150-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964926" "0" "50" "8" "145639681" "145639681" "subst" "0.0562625" "02327" "CPSF1_000067" "g.145639681G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997052" "0" "30" "8" "145639424" "145639424" "subst" "6.27117E-5" "01804" "CPSF1_000071" "g.145639424C>T" "" "" "" "SLC39A4(NM_130849.3):c.1205G>A (p.(Arg402His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SLC39A4 ## Count = 167 "{{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}}" "0000053064" "00024005" "99" "1224" "0" "1228" "0" "c.1224_1228del" "r.(?)" "p.(Gly409Leufs*7)" "7" "0000053065" "00024005" "99" "1224" "0" "1228" "0" "c.1224_1228del" "r.(?)" "p.(Gly409Leufs*7)" "7" "0000053066" "00024005" "99" "970" "0" "973" "0" "c.970_973del" "r.(?)" "p.(Ser324Argfs*24)" "5" "0000053067" "00024005" "77" "475" "-19" "475" "-19" "c.475-19G>A" "r.spl?" "p.(=)" "1i" "0000053068" "00024005" "77" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Pro200Leu)" "3" "0000053069" "00024005" "77" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Pro200Leu)" "3" "0000053070" "00024005" "77" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Gly526Arg)" "10" "0000053071" "00024005" "77" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Gly374Arg)" "6" "0000053072" "00024005" "77" "475" "-19" "475" "-19" "c.475-19G>A" "r.spl?" "p.(=)" "1i" "0000248225" "00024005" "10" "751" "0" "751" "0" "c.751=" "r.(=)" "p.(Arg251=)" "" "0000248225" "00024014" "10" "676" "0" "676" "0" "c.676=" "r.(=)" "p.(Arg226=)" "" "0000250928" "00024005" "10" "751" "0" "751" "0" "c.751=" "r.(=)" "p.(Arg251=)" "" "0000250928" "00024014" "10" "676" "0" "676" "0" "c.676=" "r.(=)" "p.(Arg226=)" "" "0000253712" "00024005" "10" "193" "-38" "193" "-38" "c.193-38T>C" "r.(=)" "p.(=)" "" "0000253712" "00024014" "10" "80" "0" "80" "0" "c.80T>C" "r.(?)" "p.(Val27Ala)" "" "0000256287" "00024005" "50" "193" "-116" "193" "-116" "c.193-116T>G" "r.(=)" "p.(=)" "" "0000256287" "00024014" "50" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0000298309" "00024005" "10" "1069" "0" "1069" "0" "c.1069A>G" "r.(?)" "p.(Thr357Ala)" "" "0000298309" "00024014" "10" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Thr332Ala)" "" "0000302239" "00024005" "30" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Pro84Leu)" "" "0000302239" "00024014" "30" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Pro59Leu)" "" "0000308449" "00024005" "30" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "" "0000308449" "00024014" "30" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Pro61Leu)" "" "0000308450" "00024005" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Gly180=)" "" "0000308450" "00024014" "30" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(Gly155=)" "" "0000308451" "00024005" "30" "804" "9" "804" "9" "c.804+9C>T" "r.(=)" "p.(=)" "" "0000308451" "00024014" "30" "729" "9" "729" "9" "c.729+9C>T" "r.(=)" "p.(=)" "" "0000308452" "00024005" "50" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Pro290Leu)" "" "0000308452" "00024014" "50" "794" "0" "794" "0" "c.794C>T" "r.(?)" "p.(Pro265Leu)" "" "0000332445" "00024005" "50" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "" "0000332445" "00024014" "50" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Pro61Leu)" "" "0000341507" "00024005" "10" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Ala58Thr)" "" "0000341507" "00024014" "10" "-410" "0" "-410" "0" "c.-410G>A" "r.(?)" "p.(=)" "" "0000341619" "00024005" "30" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Ala114Thr)" "" "0000341619" "00024014" "30" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Ala89Thr)" "" "0000349469" "00024005" "10" "1069" "0" "1069" "0" "c.1069A>G" "r.(?)" "p.(Thr357Ala)" "" "0000349469" "00024014" "10" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Thr332Ala)" "" "0000534222" "00024005" "30" "1743" "0" "1743" "0" "c.1743C>T" "r.(?)" "p.(Val581=)" "" "0000534222" "00024014" "30" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Val556=)" "" "0000534223" "00024005" "50" "1589" "0" "1589" "0" "c.1589C>T" "r.(?)" "p.(Ser530Leu)" "" "0000534223" "00024014" "50" "1514" "0" "1514" "0" "c.1514C>T" "r.(?)" "p.(Ser505Leu)" "" "0000534224" "00024005" "50" "1509" "0" "1509" "0" "c.1509C>T" "r.(?)" "p.(Gly503=)" "" "0000534224" "00024014" "50" "1434" "0" "1434" "0" "c.1434C>T" "r.(?)" "p.(Gly478=)" "" "0000534225" "00024005" "50" "1508" "0" "1508" "0" "c.1508G>T" "r.(?)" "p.(Gly503Val)" "" "0000534225" "00024014" "50" "1433" "0" "1433" "0" "c.1433G>T" "r.(?)" "p.(Gly478Val)" "" "0000534226" "00024005" "30" "1495" "0" "1495" "0" "c.1495A>G" "r.(?)" "p.(Met499Val)" "" "0000534226" "00024014" "30" "1420" "0" "1420" "0" "c.1420A>G" "r.(?)" "p.(Met474Val)" "" "0000534227" "00024005" "30" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Glu480Lys)" "" "0000534227" "00024014" "30" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Glu455Lys)" "" "0000534228" "00024005" "30" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Glu476Lys)" "" "0000534228" "00024014" "30" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Glu451Lys)" "" "0000534229" "00024005" "30" "1396" "0" "1396" "0" "c.1396C>A" "r.(?)" "p.(His466Asn)" "" "0000534229" "00024014" "30" "1321" "0" "1321" "0" "c.1321C>A" "r.(?)" "p.(His441Asn)" "" "0000534230" "00024005" "30" "1149" "8" "1149" "8" "c.1149+8C>T" "r.(=)" "p.(=)" "" "0000534230" "00024014" "30" "1074" "8" "1074" "8" "c.1074+8C>T" "r.(=)" "p.(=)" "" "0000534231" "00024005" "50" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Ala376Thr)" "" "0000534231" "00024014" "50" "1051" "0" "1051" "0" "c.1051G>A" "r.(?)" "p.(Ala351Thr)" "" "0000534232" "00024005" "70" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Gly374Arg)" "" "0000534232" "00024014" "70" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Gly349Arg)" "" "0000534233" "00024005" "30" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Gly352Ser)" "" "0000534233" "00024014" "30" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Gly327Ser)" "" "0000534234" "00024005" "30" "1020" "0" "1020" "0" "c.1020C>T" "r.(?)" "p.(Cys340=)" "" "0000534234" "00024014" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Cys315=)" "" "0000534235" "00024005" "30" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Thr334=)" "" "0000534235" "00024014" "30" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.(Thr309=)" "" "0000534236" "00024005" "30" "595" "0" "595" "0" "c.595T>C" "r.(?)" "p.(Leu199=)" "" "0000534236" "00024014" "30" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Leu174=)" "" "0000534237" "00024005" "30" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Glu168=)" "" "0000534237" "00024014" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Glu143=)" "" "0000534238" "00024005" "30" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Cys160=)" "" "0000534238" "00024014" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Cys135=)" "" "0000534239" "00024005" "30" "51" "0" "51" "0" "c.51G>A" "r.(?)" "p.(Val17=)" "" "0000534239" "00024014" "30" "-531" "0" "-531" "0" "c.-531G>A" "r.(?)" "p.(=)" "" "0000611525" "00024005" "50" "1777" "0" "1777" "0" "c.1777G>A" "r.(?)" "p.(Ala593Thr)" "" "0000611525" "00024014" "50" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Ala568Thr)" "" "0000611526" "00024005" "30" "1659" "0" "1659" "0" "c.1659G>C" "r.(?)" "p.(Leu553=)" "" "0000611526" "00024014" "30" "1584" "0" "1584" "0" "c.1584G>C" "r.(?)" "p.(Leu528=)" "" "0000611527" "00024005" "30" "804" "10" "804" "10" "c.804+10G>A" "r.(=)" "p.(=)" "" "0000611527" "00024014" "30" "729" "10" "729" "10" "c.729+10G>A" "r.(=)" "p.(=)" "" "0000611528" "00024005" "50" "532" "0" "532" "0" "c.532A>T" "r.(?)" "p.(Ser178Cys)" "" "0000611528" "00024014" "50" "457" "0" "457" "0" "c.457A>T" "r.(?)" "p.(Ser153Cys)" "" "0000622025" "00024005" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ala341Val)" "" "0000622025" "00024014" "50" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.(Ala316Val)" "" "0000652452" "00024005" "90" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Pro200Leu)" "" "0000652452" "00024014" "90" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Pro175Leu)" "" "0000656033" "00024005" "30" "1704" "0" "1704" "0" "c.1704G>A" "r.(?)" "p.(Thr568=)" "" "0000656033" "00024014" "30" "1629" "0" "1629" "0" "c.1629G>A" "r.(?)" "p.(Thr543=)" "" "0000656034" "00024005" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Trp)" "" "0000656034" "00024014" "50" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Arg219Trp)" "" "0000656035" "00024005" "30" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(His241=)" "" "0000656035" "00024014" "30" "648" "0" "648" "0" "c.648C>T" "r.(?)" "p.(His216=)" "" "0000656036" "00024005" "50" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "" "0000656036" "00024014" "50" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Arg205Cys)" "" "0000656037" "00024005" "30" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Glu168=)" "" "0000656037" "00024014" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Glu143=)" "" "0000656038" "00024005" "30" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Thr155Ile)" "" "0000656038" "00024014" "30" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Ile)" "" "0000656039" "00024005" "50" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Gly60Arg)" "" "0000656039" "00024014" "50" "-404" "0" "-404" "0" "c.-404G>A" "r.(?)" "p.(=)" "" "0000678331" "00024005" "30" "976" "16" "976" "16" "c.976+16G>A" "r.(=)" "p.(=)" "" "0000678331" "00024014" "30" "901" "16" "901" "16" "c.901+16G>A" "r.(=)" "p.(=)" "" "0000678332" "00024005" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Val93=)" "" "0000678332" "00024014" "30" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Val68=)" "" "0000678333" "00024005" "50" "160" "0" "160" "0" "c.160C>T" "r.(?)" "p.(Arg54Cys)" "" "0000678333" "00024014" "50" "-422" "0" "-422" "0" "c.-422C>T" "r.(?)" "p.(=)" "" "0000690207" "00024005" "30" "805" "-12" "805" "-12" "c.805-12G>T" "r.(=)" "p.(=)" "" "0000690207" "00024014" "30" "730" "-12" "730" "-12" "c.730-12G>T" "r.(=)" "p.(=)" "" "0000690208" "00024005" "30" "258" "0" "258" "0" "c.258G>A" "r.(?)" "p.(Pro86=)" "" "0000690208" "00024014" "30" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Pro61=)" "" "0000721863" "00024005" "50" "1475" "-5" "1475" "-5" "c.1475-5C>A" "r.spl?" "p.?" "" "0000721863" "00024014" "50" "1400" "-5" "1400" "-5" "c.1400-5C>A" "r.spl?" "p.?" "" "0000721864" "00024005" "30" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(Asp472=)" "" "0000721864" "00024014" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Asp447=)" "" "0000721865" "00024005" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ala341Val)" "" "0000721865" "00024014" "50" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.(Ala316Val)" "" "0000721866" "00024005" "30" "849" "0" "849" "0" "c.849G>A" "r.(?)" "p.(Ser283=)" "" "0000721866" "00024014" "30" "774" "0" "774" "0" "c.774G>A" "r.(?)" "p.(Ser258=)" "" "0000721867" "00024005" "30" "840" "0" "840" "0" "c.840T>C" "r.(?)" "p.(Tyr280=)" "" "0000721867" "00024014" "30" "765" "0" "765" "0" "c.765T>C" "r.(?)" "p.(Tyr255=)" "" "0000721868" "00024005" "30" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Pro138Leu)" "" "0000721868" "00024014" "30" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "" "0000721869" "00024005" "30" "210" "0" "210" "0" "c.210C>T" "r.(?)" "p.(Asp70=)" "" "0000721869" "00024014" "30" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Asp45=)" "" "0000803544" "00024005" "30" "5374" "0" "5374" "0" "c.*3430C>A" "r.(=)" "p.(=)" "" "0000803544" "00024014" "30" "5299" "0" "5299" "0" "c.*3430C>A" "r.(=)" "p.(=)" "" "0000803545" "00024005" "50" "848" "0" "848" "0" "c.848C>T" "r.(?)" "p.(Ser283Leu)" "" "0000803545" "00024014" "50" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Ser258Leu)" "" "0000803546" "00024005" "30" "595" "0" "595" "0" "c.595T>C" "r.(?)" "p.(Leu199=)" "" "0000803546" "00024014" "30" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Leu174=)" "" "0000803547" "00024005" "30" "193" "-45" "193" "-45" "c.193-45T>G" "r.(=)" "p.(=)" "" "0000803547" "00024014" "30" "73" "0" "73" "0" "c.73T>G" "r.(?)" "p.(Ser25Ala)" "" "0000851851" "00024005" "10" "1141" "0" "1141" "0" "c.1141A>G" "r.(?)" "p.(Thr381Ala)" "" "0000851851" "00024014" "10" "1066" "0" "1066" "0" "c.1066A>G" "r.(?)" "p.(Thr356Ala)" "" "0000851852" "00024005" "30" "1003" "0" "1003" "0" "c.1003C>T" "r.(?)" "p.(Leu335=)" "" "0000851852" "00024014" "30" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Leu310=)" "" "0000851853" "00024005" "30" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Pro83Ser)" "" "0000851853" "00024014" "30" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Pro58Ser)" "" "0000861134" "00024005" "50" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Ser457=)" "" "0000861134" "00024014" "50" "1296" "0" "1296" "0" "c.1296C>T" "r.(?)" "p.(Ser432=)" "" "0000861135" "00024005" "30" "660" "0" "660" "0" "c.660G>A" "r.(?)" "p.(Thr220=)" "" "0000861135" "00024014" "30" "585" "0" "585" "0" "c.585G>A" "r.(?)" "p.(Thr195=)" "" "0000861136" "00024005" "30" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Leu4=)" "" "0000861136" "00024014" "30" "-572" "0" "-572" "0" "c.-572C>T" "r.(?)" "p.(=)" "" "0000888227" "00024005" "30" "1743" "0" "1743" "0" "c.1743C>T" "r.(?)" "p.(Val581=)" "" "0000888227" "00024014" "30" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Val556=)" "" "0000888228" "00024005" "50" "1704" "0" "1704" "0" "c.1704G>A" "r.(?)" "p.(Thr568=)" "" "0000888228" "00024014" "50" "1629" "0" "1629" "0" "c.1629G>A" "r.(?)" "p.(Thr543=)" "" "0000888229" "00024005" "30" "1659" "0" "1659" "0" "c.1659G>C" "r.(?)" "p.(Leu553=)" "" "0000888229" "00024014" "30" "1584" "0" "1584" "0" "c.1584G>C" "r.(?)" "p.(Leu528=)" "" "0000888230" "00024005" "30" "1495" "0" "1495" "0" "c.1495A>G" "r.(?)" "p.(Met499Val)" "" "0000888230" "00024014" "30" "1420" "0" "1420" "0" "c.1420A>G" "r.(?)" "p.(Met474Val)" "" "0000888231" "00024005" "30" "339" "0" "339" "0" "c.339C>T" "r.(?)" "p.(Asp113=)" "" "0000888231" "00024014" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Asp88=)" "" "0000888232" "00024005" "30" "324" "0" "324" "0" "c.324G>A" "r.(?)" "p.(Glu108=)" "" "0000888232" "00024014" "30" "249" "0" "249" "0" "c.249G>A" "r.(?)" "p.(Glu83=)" "" "0000888233" "00024005" "30" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "" "0000888233" "00024014" "30" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Pro61Leu)" "" "0000912909" "00024005" "30" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Gly437Ser)" "" "0000912909" "00024014" "30" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Gly412Ser)" "" "0000912910" "00024005" "10" "192" "5" "192" "5" "c.192+5C>A" "r.spl?" "p.?" "" "0000912910" "00024014" "10" "-385" "0" "-385" "0" "c.-385C>A" "r.(?)" "p.(=)" "" "0000924843" "00024005" "30" "321" "0" "321" "0" "c.321C>T" "r.(?)" "p.(Pro107=)" "" "0000924843" "00024014" "30" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(Pro82=)" "" "0000929425" "00024014" "30" "1399" "19" "1399" "19" "c.1399+19C>T" "r.(=)" "p.(=)" "" "0000964925" "00024014" "30" "1075" "-15" "1075" "-15" "c.1075-15G>A" "r.(=)" "p.(=)" "" "0000964926" "00024014" "50" "1039" "0" "1039" "0" "c.1039C>G" "r.(?)" "p.(Leu347Val)" "" "0000997052" "00024014" "30" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000029684" "0000053064" "0000029685" "0000053065" "0000029686" "0000053066" "0000029686" "0000053072" "0000029687" "0000053067" "0000029688" "0000053068" "0000029689" "0000053069" "0000029690" "0000053070" "0000029691" "0000053071" "0000295763" "0000652452"