### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DSG4) # 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}}" "DSG4" "desmoglein 4" "18" "q12.1" "unknown" "NG_013040.1" "UD_132118799474" "" "https://www.LOVD.nl/DSG4" "" "1" "21307" "147409" "607892" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DSG4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-24 15:44:14" "00006" "2025-12-05 13:23:08" ## 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}}" "00006719" "DSG4" "transcript variant 2" "001" "NM_177986.3" "" "NP_817123.1" "" "" "" "-135" "3445" "3123" "28956740" "28993880" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02719" "HYPT6" "hypotrichosis, type 6 (HYPT-6)" "AR" "607903" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DSG4" "02719" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00080855" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00248487" "" "" "" "4" "" "00006" "{PMID:Mero 2017:28934391}" "2-generation family, 4 affected fetuses, unaffected heterozygous carrier parents (first cousins)" "" "yes" "Norway" "" "0" "" "" "" "family" "00291929" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291930" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291931" "" "" "" "92" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304620" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00438587" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0036" "00468823" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468824" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00470705" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected mother and father" "F" "" "Poland" "" "0" "" "" "" "Pat66" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00080855" "02719" "00248487" "00198" "00291929" "00198" "00291930" "00198" "00291931" "00198" "00304620" "00198" "00438587" "06906" "00468823" "00198" "00468824" "00198" "00470705" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02719, 06906, 07210 ## Count = 6 "{{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}}" "0000060424" "02719" "00080855" "01758" "Familial, autosomal recessive" "" "Hypotrichosis 6 (OMIM:607903)" "" "" "" "" "" "" "" "" "" "" "" "0000187477" "00198" "00248487" "00006" "Familial, autosomal recessive" "" "see paper; ..., limb contractures (3/3), hydrocephalus/dilated cerebral ventricles (3/4), small cerebellum (3/3), corpus callosum agenesis (1/3)" "" "" "" "" "" "" "" "" "" "cerebral ventriculomegaly, limb contractures" "" "0000328490" "06906" "00438587" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000353976" "00198" "00468823" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculoskeletal system" "" "0000353977" "00198" "00468824" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculoskeletal system" "" "0000355599" "07210" "00470705" "00006" "Familial" "15y" "see paper; ... scoliosis, no other skeletal defects; back pain, respiratory difficulties, myoclonus; physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080967" "00080855" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249591" "00248487" "1" "00006" "00006" "2019-07-24 15:32:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000293097" "00291929" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293098" "00291930" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293099" "00291931" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305749" "00304620" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000440069" "00438587" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000470491" "00468823" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470492" "00468824" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472372" "00470705" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000080967" "DSG4" "0000249591" "KIDINS220" ## 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 = 25 "{{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}}" "0000130053" "3" "70" "18" "28992824" "28992824" "subst" "8.12249E-6" "01758" "DSG4_000001" "g.28992824C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.31412861C>T" "" "likely pathogenic" "ACMG" "0000248706" "0" "10" "18" "28993183" "28993183" "subst" "0.449555" "02325" "DSG4_000007" "g.28993183A>G" "" "" "" "DSG4(NM_001134453.3):c.2805A>G (p.P935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31413220A>G" "" "benign" "" "0000248803" "0" "10" "18" "28986333" "28986333" "subst" "0.921038" "02325" "DSG4_000005" "g.28986333A>C" "" "" "" "DSG4(NM_001134453.3):c.1930A>C (p.I644L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31406370A>C" "" "benign" "" "0000267581" "0" "30" "18" "28991180" "28991180" "subst" "1.6247E-5" "02325" "DSG4_000006" "g.28991180T>C" "" "" "" "DSG4(NM_001134453.3):c.2181T>C (p.H727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31411217T>C" "" "likely benign" "" "0000267582" "0" "10" "18" "28968371" "28968371" "subst" "0.754902" "02325" "DSG4_000003" "g.28968371G>A" "" "" "" "DSG4(NM_001134453.3):c.258G>A (p.R86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31388408G>A" "" "benign" "" "0000267583" "0" "10" "18" "28956904" "28956904" "subst" "0.137614" "02325" "DSG4_000002" "g.28956904C>T" "" "" "" "DSG4(NM_001134453.3):c.30C>T (p.C10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31376941C>T" "" "benign" "" "0000267584" "0" "10" "18" "28993501" "28993501" "subst" "0.721431" "02325" "DSG4_000008" "g.28993501C>A" "" "" "" "DSG4(NM_001134453.3):c.3123C>A (p.P1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31413538C>A" "" "benign" "" "0000267585" "0" "10" "18" "28968959" "28968959" "subst" "0.779336" "02325" "DSG4_000004" "g.28968959C>T" "" "" "" "DSG4(NM_001134453.3):c.495C>T (p.S165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31388996C>T" "" "benign" "" "0000564431" "0" "50" "18" "28972253" "28972253" "subst" "0.000545097" "01943" "DSG4_000009" "g.28972253G>A" "" "" "" "DSG4(NM_001134453.2):c.955G>A (p.D319N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31392290G>A" "" "VUS" "" "0000564432" "0" "50" "18" "28972295" "28972295" "subst" "0" "01943" "DSG4_000010" "g.28972295G>A" "" "" "" "DSG4(NM_001134453.2):c.997G>A (p.V333I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31392332G>A" "" "VUS" "" "0000564433" "0" "50" "18" "28992822" "28992822" "subst" "0.000288344" "02325" "DSG4_000011" "g.28992822G>T" "" "" "" "DSG4(NM_001134453.3):c.2444G>T (p.G815V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31412859G>T" "" "VUS" "" "0000578400" "3" "90" "18" "28993353" "28993353" "dup" "0" "00006" "DSG4_000013" "g.28993353dup" "" "{PMID:Mero 2017:28934391}" "" "NM_001134343:c.2975dupG" "variant not associated with phenotype" "Germline" "no" "" "0" "" "" "g.31413390dup" "" "VUS" "" "0000649786" "1" "50" "18" "28979427" "28979427" "subst" "0.00453707" "03575" "DSG4_000014" "g.28979427G>A" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 10 heterozygous, no homozygous; {DB:CLININrs35378785}" "Germline" "" "rs35378785" "0" "" "" "g.31399464G>A" "" "VUS" "" "0000649787" "1" "50" "18" "28983448" "28983448" "subst" "0.0107964" "03575" "DSG4_000015" "g.28983448A>G" "9/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous; {DB:CLININrs117510013}" "Germline" "" "rs117510013" "0" "" "" "g.31403485A>G" "" "VUS" "" "0000649788" "1" "50" "18" "28983529" "28983529" "subst" "0.00807972" "03575" "DSG4_000016" "g.28983529C>T" "92/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 92 heterozygous, no homozygous; {DB:CLININrs34620697}" "Germline" "" "rs34620697" "0" "" "" "g.31403566C>T" "" "VUS" "" "0000669437" "3" "50" "18" "28983448" "28983448" "subst" "0.0107964" "03575" "DSG4_000015" "g.28983448A>G" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs117510013}" "Germline" "" "rs117510013" "0" "" "" "g.31403485A>G" "" "VUS" "" "0000692567" "0" "30" "18" "28966782" "28966782" "subst" "1.22274E-5" "01943" "DSG4_000017" "g.28966782A>G" "" "" "" "DSG4(NM_001134453.2):c.216A>G (p.K72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865643" "0" "90" "18" "28979397" "28979401" "dup" "0" "01943" "DSG4_000018" "g.28979397_28979401dup" "" "" "" "DSG4(NM_001134453.2):c.1168_1172dupATGGC (p.F392Wfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915032" "0" "50" "18" "28993125" "28993125" "subst" "0.000125892" "02325" "DSG4_000019" "g.28993125C>A" "" "" "" "DSG4(NM_177986.5):c.2690C>A (p.S897Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926710" "0" "50" "18" "28972244" "28972244" "subst" "0" "02325" "DSG4_000020" "g.28972244A>G" "" "" "" "DSG4(NM_177986.5):c.946A>G (p.N316D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936382" "0" "50" "18" "28979489" "28979489" "subst" "0" "00006" "DSG4_000021" "g.28979489C>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_177986:c.C1260A (N420K)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0001004019" "0" "30" "18" "28993451" "28993451" "subst" "5.70279E-5" "01804" "DSG4_000022" "g.28993451A>G" "" "" "" "DSG4(NM_177986.3):c.3016A>G (p.(Met1006Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058613" "0" "70" "18" "28968862" "28968862" "subst" "7.31547E-5" "00006" "DSG4_000023" "g.28968862G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.31388899G>A" "" "likely pathogenic" "" "0001058614" "0" "70" "18" "28986304" "28986304" "subst" "9.75253E-5" "00006" "DSG4_000024" "g.28986304G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.31406341G>A" "" "likely pathogenic" "" "0001060830" "0" "70" "18" "28972290" "28972290" "subst" "0" "00006" "DSG4_000025" "g.28972290T>A" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.31392327T>A" "" "likely pathogenic" "ACMG" ## 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 DSG4 ## Count = 25 "{{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}}" "0000130053" "00006719" "70" "2389" "0" "2389" "0" "c.2389C>T" "r.(?)" "p.(Arg797*)" "" "0000248706" "00006719" "10" "2748" "0" "2748" "0" "c.2748A>G" "r.(?)" "p.(Pro916=)" "" "0000248803" "00006719" "10" "1930" "0" "1930" "0" "c.1930A>C" "r.(?)" "p.(Ile644Leu)" "" "0000267581" "00006719" "30" "2138" "-14" "2138" "-14" "c.2138-14T>C" "r.(=)" "p.(=)" "" "0000267582" "00006719" "10" "258" "0" "258" "0" "c.258G>A" "r.(?)" "p.(Arg86=)" "" "0000267583" "00006719" "10" "30" "0" "30" "0" "c.30C>T" "r.(?)" "p.(Cys10=)" "" "0000267584" "00006719" "10" "3066" "0" "3066" "0" "c.3066C>A" "r.(?)" "p.(Pro1022=)" "" "0000267585" "00006719" "10" "495" "0" "495" "0" "c.495C>T" "r.(?)" "p.(Ser165=)" "" "0000564431" "00006719" "50" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Asp319Asn)" "" "0000564432" "00006719" "50" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Val333Ile)" "" "0000564433" "00006719" "50" "2387" "0" "2387" "0" "c.2387G>T" "r.(?)" "p.(Gly796Val)" "" "0000578400" "00006719" "90" "2918" "0" "2918" "0" "c.2918dup" "r.(?)" "p.(Val974Cysfs*3)" "" "0000649786" "00006719" "50" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Gly400Arg)" "" "0000649787" "00006719" "50" "1487" "0" "1487" "0" "c.1487A>G" "r.(?)" "p.(Asn496Ser)" "" "0000649788" "00006719" "50" "1568" "0" "1568" "0" "c.1568C>T" "r.(?)" "p.(Pro523Leu)" "" "0000669437" "00006719" "50" "1487" "0" "1487" "0" "c.1487A>G" "r.(?)" "p.(Asn496Ser)" "" "0000692567" "00006719" "30" "216" "0" "216" "0" "c.216A>G" "r.(?)" "p.(Lys72=)" "" "0000865643" "00006719" "90" "1168" "0" "1172" "0" "c.1168_1172dup" "r.(?)" "p.(Phe392Trpfs*9)" "" "0000915032" "00006719" "50" "2690" "0" "2690" "0" "c.2690C>A" "r.(?)" "p.(Ser897Tyr)" "" "0000926710" "00006719" "50" "946" "0" "946" "0" "c.946A>G" "r.(?)" "p.(Asn316Asp)" "" "0000936382" "00006719" "50" "1260" "0" "1260" "0" "c.1260C>A" "r.(?)" "p.(Asn420Lys)" "" "0001004019" "00006719" "30" "3016" "0" "3016" "0" "c.3016A>G" "r.(?)" "p.(Met1006Val)" "" "0001058613" "00006719" "70" "398" "0" "398" "0" "c.398G>A" "r.(?)" "p.(Arg133Gln)" "" "0001058614" "00006719" "70" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Gly634Asp)" "" "0001060830" "00006719" "70" "992" "0" "992" "0" "c.992T>A" "r.(?)" "p.(Leu331Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000080967" "0000130053" "0000249591" "0000578400" "0000293097" "0000649786" "0000293098" "0000649787" "0000293099" "0000649788" "0000305749" "0000669437" "0000440069" "0000936382" "0000470491" "0001058613" "0000470492" "0001058614" "0000472372" "0001060830"