### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC39A8) # 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}}" "SLC39A8" "solute carrier family 39 (zinc transporter), member 8" "4" "q22-q24" "unknown" "NC_000004.11" "UD_132465341107" "" "https://www.LOVD.nl/SLC39A8" "" "1" "20862" "64116" "608732" "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/SLC39A8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-08 10:33:22" "00000" "2021-09-17 14:40:49" ## 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}}" "00019327" "SLC39A8" "transcript variant 1" "003" "NM_022154.5" "" "NP_071437.3" "" "" "" "-529" "2763" "1383" "103266348" "103182821" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" "05919" "CDG2N" "glycosylation, congenital disorder of, type IIn (CDG2N)" "AR" "616721" "" "" "" "00006" "2021-04-08 10:29:27" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC39A8" "05461" "SLC39A8" "05919" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00293501" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361719" "" "" "" "1" "" "00006" "{PMID:Boycott 2015:26637978}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "Hutterite-D" "FamAPat1" "00361720" "" "" "" "1" "" "00006" "{PMID:Boycott 2015:26637978}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "Hutterite-D" "FamBPat2" "00361721" "" "" "" "1" "" "00006" "{PMID:Boycott 2015:26637978}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "Hutterite-S" "FamCPat3" "00361722" "" "" "" "2" "" "00006" "{PMID:Boycott 2015:26637978}" "2-generation family, 2 affected (2F), unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "Hutterite-S" "FamDPat4" "00361723" "" "" "00361722" "1" "" "00006" "{PMID:Boycott 2015:26637978}" "sister" "F" "" "United States" "" "0" "" "" "Hutterite-S" "FamDPat5" "00361724" "" "" "" "1" "" "00006" "{PMID:Boycott 2015:26637978}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "Hutterite-S" "FamEPat6" "00361725" "" "" "" "2" "" "00006" "{PMID:Boycott 2015:26637978}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "" "Egypt" "" "0" "" "" "Egypt" "FamFPat7" "00361726" "" "" "00361725" "1" "" "00006" "{PMID:Boycott 2015:26637978}" "brother" "M" "" "Egypt" "" "0" "" "" "Egypt" "FamFPat8" "00361727" "" "" "" "1" "" "00006" "{PMID:Park 2015:26637979}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "" "PatA" "00361728" "" "" "" "1" "" "00006" "{PMID:Park 2015:26637979}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "PatB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00293501" "00198" "00361719" "00139" "00361720" "00139" "00361721" "00139" "00361722" "00139" "00361723" "00139" "00361724" "00139" "00361725" "00139" "00361726" "00139" "00361727" "00139" "00361728" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05461, 05919 ## Count = 10 "{{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}}" "0000257121" "00139" "00361719" "00006" "Familial, autosomal recessive" "13y" "birth length 50th–75th; birth weight 50th; OFC 90th; length -3 to -4 SD; weight -4 SD; OFC 50th; 2y-head control; 7y-sit; not walking; profound intellectual disability; profound hypotonia; strabismus; no seizures; recurrent infections, joint hypermobility; osteopenia; MRI severe atrophy of the cerebellar vermis and hemispheres" "" "" "" "" "" "" "" "" "CDG2N" "intellectual disability" "" "0000257122" "00139" "00361720" "00006" "Familial, autosomal recessive" "17y" "birth length 5th–10th; birth weight 50th; OFC 50th; length -3 to -4 SD; weight -4 SD; OFC 50th; 4y-head control; sit with support; not walking; profound intellectual disability; profound hypotonia; strabismus; no seizures; recurrent infections, joint hypermobility; osteopenia, flat and broad long bone epiphyses; MRI severe atrophy of the cerebellar vermis and hemispheres" "" "" "" "" "" "" "" "" "CDG2N" "intellectual disability" "" "0000257123" "00139" "00361721" "00006" "Familial, autosomal recessive" "8y" "birth length 5th–10th; birth weight 25th–50th; OFC normal; length -3 SD; weight -3 SD; OFC 50th; 2y-head control; 3y-sit; not walking; severe intellectual disability ; severe hypotonia; strabismus; no seizures; constipation; 16m-normal skeletal survey; MRI severe atrophy of the cerebellar vermis and hemispheres" "" "" "" "" "" "" "" "" "CDG2N" "intellectual disability" "" "0000257124" "00139" "00361722" "00006" "Familial, autosomal recessive" "5y" "birth length <5th; birth weight <5th; OFC <5th; length 5th; weight 10th; OFC 25th–50th; 2y-head control; sit with support; not walking; profound intellectual disability; severe hypotonia; strabismus; no seizures; recurrent infections; MRI severe atrophy of the cerebellar vermis and hemispheres; MRS normal" "" "" "" "" "" "" "" "" "CDG2N" "intellectual disability" "" "0000257125" "00139" "00361723" "00006" "Familial, autosomal recessive" "5y" "birth length <5th; birth weight <5th; OFC <5th; length 5th; weight 10th; OFC 25th–50th; 2y-head control; sit with support; assisted walking; profound intellectual disability; severe hypotonia; strabismus; no seizures; recurrent infections" "" "" "" "" "" "" "" "" "CDG2N" "intellectual disability" "" "0000257126" "00139" "00361724" "00006" "Familial, autosomal recessive" "9y" "birth weight 50th–75th; OFC >95th; length <5th; weight 25th–50th; OFC 95th; 2y-head control; sit with support; not walking; profound intellectual disability; severe hypotonia; no strabismus; seizures; recurrent infections; MRI progressive atrophy of the cerebellar vermis and hemispheres; MRS elevated lactate peak" "" "" "" "" "" "" "" "" "CDG2N" "intellectual disability" "" "0000257127" "00139" "00361725" "00006" "Familial, autosomal recessive" "8y" "birth length normal; birth weight normal; OFC normal; length 5th; weight 25th; OFC 50th; no head control; not sitting; assisted walking; severe intellectual disability ; severe hypotonia; strabismus; myoclonic seizures; hyperreflexia; MRI severe atrophy of the cerebellar vermis and hemispheres" "" "" "" "" "" "" "" "" "CDG2N" "intellectual disability" "" "0000257128" "00139" "00361726" "00006" "Familial, autosomal recessive" "2y" "birth length normal; birth weight normal; OFC normal; length 5th; weight 5th; OFC 50th; no head control; not sitting; not walking; severe intellectual disability ; severe hypotonia; strabismus; no seizures; hyperreflexia; MRI mild atrophy of the cerebellar vermis and hemispheres; cerebral atrophy, particularly of the frontal lobes" "" "" "" "" "" "" "" "" "CDG2N" "intellectual disability" "" "0000257129" "00139" "00361727" "00006" "Familial, autosomal recessive" "" "see paper; ..., cranial asymmetry, severe infantile spasms with hypsarrhythmia, dysproportionate dwarfism" "" "" "" "" "" "" "" "" "CDG2N" "intellectual disability" "" "0000257130" "00139" "00361728" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CDG2N" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294669" "00293501" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362947" "00361719" "1" "00006" "00006" "2021-04-08 11:48:33" "" "" "SEQ" "DNA" "" "" "0000362948" "00361720" "1" "00006" "00006" "2021-04-08 11:48:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362949" "00361721" "1" "00006" "00006" "2021-04-08 11:48:33" "" "" "SEQ" "DNA" "" "" "0000362950" "00361722" "1" "00006" "00006" "2021-04-08 11:48:33" "" "" "SEQ" "DNA" "" "" "0000362951" "00361723" "1" "00006" "00006" "2021-04-08 11:48:33" "" "" "SEQ" "DNA" "" "" "0000362952" "00361724" "1" "00006" "00006" "2021-04-08 11:48:33" "" "" "SEQ" "DNA" "" "" "0000362953" "00361725" "1" "00006" "00006" "2021-04-08 11:48:33" "" "" "SEQ-NG" "DNA" "" "WES" "0000362954" "00361726" "1" "00006" "00006" "2021-04-08 11:48:33" "" "" "SEQ-NG" "DNA" "" "WES" "0000362955" "00361727" "1" "00006" "00006" "2021-04-08 11:48:33" "" "" "SEQ-NG" "DNA" "" "WES" "0000362956" "00361728" "1" "00006" "00006" "2021-04-08 11:48:33" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000362947" "SLC39A8" "0000362948" "SLC39A8" "0000362949" "SLC39A8" "0000362950" "SLC39A8" "0000362951" "SLC39A8" "0000362952" "SLC39A8" "0000362953" "SLC39A8" "0000362954" "SLC39A8" "0000362955" "SLC39A8" "0000362956" "SLC39A8" ## 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 = 20 "{{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}}" "0000521046" "0" "10" "4" "103188714" "103188714" "subst" "0.000382587" "01943" "SLC39A8_000002" "g.103188714T>C" "" "" "" "SLC39A8(NM_001135147.1):c.1166A>G (p.N389S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102267557T>C" "" "benign" "" "0000521048" "0" "30" "4" "103265667" "103265667" "subst" "0" "01804" "SLC39A8_000004" "g.103265667C>G" "" "" "" "SLC39A8(NM_001135146.1):c.153G>C (p.(Leu51Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102344510C>G" "" "likely benign" "" "0000651358" "1" "50" "4" "103265723" "103265723" "subst" "0.000650578" "03575" "SLC39A8_000005" "g.103265723C>T" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 9 heterozygous, no homozygous; {DB:CLININrs373562040}" "Germline" "" "rs373562040" "0" "" "" "g.102344566C>T" "" "VUS" "" "0000689182" "0" "50" "4" "103180612" "103180612" "subst" "2.0334E-5" "01943" "SLC39A8_000006" "g.103180612C>T" "" "" "" "SLC39A8(NM_001135147.1):c.1326G>A (p.T442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000760939" "3" "90" "4" "103236992" "103236992" "subst" "0" "01709" "SLC39A8_000007" "g.103236992A>T" "" "" "" "c.220-5T>A /p.?" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000763334" "3" "90" "4" "103265708" "103265708" "subst" "3.32969E-5" "00006" "SLC39A8_000011" "g.103265708C>G" "" "{PMID:Boycott 2015:26637978}" "" "" "" "Germline" "" "" "0" "" "" "g.102344551C>G" "" "pathogenic (recessive)" "" "0000763335" "3" "90" "4" "103265708" "103265708" "subst" "3.32969E-5" "00006" "SLC39A8_000011" "g.103265708C>G" "" "{PMID:Boycott 2015:26637978}" "" "" "" "Germline" "" "" "0" "" "" "g.102344551C>G" "" "pathogenic (recessive)" "" "0000763336" "3" "90" "4" "103265708" "103265708" "subst" "3.32969E-5" "00006" "SLC39A8_000011" "g.103265708C>G" "" "{PMID:Boycott 2015:26637978}" "" "" "" "Germline" "" "" "0" "" "" "g.102344551C>G" "" "pathogenic (recessive)" "" "0000763337" "3" "90" "4" "103265708" "103265708" "subst" "3.32969E-5" "00006" "SLC39A8_000011" "g.103265708C>G" "" "{PMID:Boycott 2015:26637978}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102344551C>G" "" "pathogenic (recessive)" "" "0000763338" "3" "90" "4" "103265708" "103265708" "subst" "3.32969E-5" "00006" "SLC39A8_000011" "g.103265708C>G" "" "{PMID:Boycott 2015:26637978}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102344551C>G" "" "pathogenic (recessive)" "" "0000763339" "3" "90" "4" "103265708" "103265708" "subst" "3.32969E-5" "00006" "SLC39A8_000011" "g.103265708C>G" "" "{PMID:Boycott 2015:26637978}" "" "" "" "Germline" "" "" "0" "" "" "g.102344551C>G" "" "pathogenic (recessive)" "" "0000763340" "3" "90" "4" "103265708" "103265708" "subst" "3.32969E-5" "00006" "SLC39A8_000011" "g.103265708C>G" "" "{PMID:Boycott 2015:26637978}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102344551C>G" "" "pathogenic (recessive)" "" "0000763341" "3" "90" "4" "103265708" "103265708" "subst" "3.32969E-5" "00006" "SLC39A8_000011" "g.103265708C>G" "" "{PMID:Boycott 2015:26637978}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102344551C>G" "" "pathogenic (recessive)" "" "0000763342" "11" "70" "4" "103265708" "103265708" "subst" "3.32969E-5" "00006" "SLC39A8_000011" "g.103265708C>G" "" "{PMID:Park 2015:26637979}" "" "" "" "Germline" "" "" "0" "" "" "g.102344551C>G" "" "likely pathogenic (recessive)" "" "0000763343" "11" "70" "4" "103265723" "103265723" "subst" "0.000650578" "00006" "SLC39A8_000005" "g.103265723C>T" "" "{PMID:Park 2015:26637979}" "" "" "" "Germline" "" "" "0" "" "" "g.102344566C>T" "" "likely pathogenic (recessive)" "" "0000763344" "21" "70" "4" "103189058" "103189058" "subst" "0" "00006" "SLC39A8_000008" "g.103189058A>T" "" "{PMID:Park 2015:26637979}" "" "" "" "Germline" "" "" "0" "" "" "g.102267901A>T" "" "likely pathogenic (recessive)" "" "0000763345" "21" "70" "4" "103226211" "103226211" "subst" "6.55238E-5" "00006" "SLC39A8_000010" "g.103226211C>A" "" "{PMID:Park 2015:26637979}" "" "" "" "Germline" "" "" "0" "" "" "g.102305054C>A" "" "likely pathogenic (recessive)" "" "0000763346" "11" "70" "4" "103189073" "103189073" "subst" "0" "00006" "SLC39A8_000009" "g.103189073C>G" "" "{PMID:Park 2015:26637979}" "" "" "" "Germline" "" "" "0" "" "" "g.102267916C>G" "" "likely pathogenic (recessive)" "" "0000801430" "0" "30" "4" "103184331" "103184331" "subst" "2.84977E-5" "01943" "SLC39A8_000012" "g.103184331A>G" "" "" "" "SLC39A8(NM_001135147.1):c.1253T>C (p.M418T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801431" "0" "50" "4" "103188673" "103188673" "subst" "0" "01943" "SLC39A8_000013" "g.103188673A>C" "" "" "" "SLC39A8(NM_001135147.1):c.1207T>G (p.F403V)" "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 SLC39A8 ## Count = 20 "{{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}}" "0000521046" "00019327" "10" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(Asn389Ser)" "" "0000521048" "00019327" "30" "153" "0" "153" "0" "c.153G>C" "r.(?)" "p.(Leu51Phe)" "" "0000651358" "00019327" "50" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Val33Met)" "" "0000689182" "00019327" "50" "4972" "0" "4972" "0" "c.*3589G>A" "r.(=)" "p.(=)" "" "0000760939" "00019327" "90" "220" "-5" "220" "-5" "c.220-5T>A" "r.spl?" "p.?" "1i" "0000763334" "00019327" "90" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Gly38Arg)" "" "0000763335" "00019327" "90" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Gly38Arg)" "" "0000763336" "00019327" "90" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Gly38Arg)" "" "0000763337" "00019327" "90" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Gly38Arg)" "" "0000763338" "00019327" "90" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Gly38Arg)" "" "0000763339" "00019327" "90" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Gly38Arg)" "" "0000763340" "00019327" "90" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Gly38Arg)" "" "0000763341" "00019327" "90" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Gly38Arg)" "" "0000763342" "00019327" "70" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Gly38Arg)" "" "0000763343" "00019327" "70" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Val33Met)" "" "0000763344" "00019327" "70" "1019" "0" "1019" "0" "c.1019T>A" "r.(?)" "p.(Ile340Asn)" "" "0000763345" "00019327" "70" "610" "0" "610" "0" "c.610G>T" "r.(?)" "p.(Gly204Cys)" "" "0000763346" "00019327" "70" "1004" "0" "1004" "0" "c.1004G>C" "r.(?)" "p.(Ser335Thr)" "" "0000801430" "00019327" "30" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Met418Thr)" "" "0000801431" "00019327" "50" "1207" "0" "1207" "0" "c.1207T>G" "r.(?)" "p.(Phe403Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000294669" "0000651358" "0000362947" "0000763334" "0000362948" "0000763335" "0000362949" "0000763336" "0000362950" "0000763337" "0000362951" "0000763338" "0000362952" "0000763339" "0000362953" "0000763340" "0000362954" "0000763341" "0000362955" "0000763342" "0000362955" "0000763344" "0000362956" "0000763343" "0000362956" "0000763345" "0000362956" "0000763346"