### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SERAC1) # 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}}" "SERAC1" "serine active site containing 1" "6" "q25.3" "unknown" "NG_032889.1" "UD_133034082048" "" "https://www.LOVD.nl/SERAC1" "" "1" "21061" "84947" "614725" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SERAC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-10 21:40:29" "00006" "2025-09-08 21:25:37" ## 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}}" "00018684" "SERAC1" "serine active site containing 1" "001" "NM_032861.3" "" "NP_116250.3" "" "" "" "-142" "3827" "1965" "158589312" "158530536" "" "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" "00623" "MEGDEL" "3-methylglutaconic aciduria with deafness, encephalopathy, Leigh-like syndrome (MEGDEL)" "AR" "614739" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SERAC1" "00139" "SERAC1" "00623" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00080949" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00100918" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "F" "yes" "Turkey" "10y" "0" "" "" "" "22683713-Pat1" "00100919" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "F" "no" "Netherlands" "16y" "0" "" "" "" "22683713-Pat2" "00100920" "" "" "" "3" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "3-generation family, 3 affects (2F, M), niece of Pat6/7" "F" "yes" "Turkey" ">15y" "0" "" "" "" "22683713-Pat3" "00100921" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "F" "yes" "Turkey" ">15y" "0" "" "" "" "22683713-Pat4" "00100922" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" ">11y" "0" "" "" "" "22683713-Pat5" "00100923" "" "" "00100920" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "sister of Pat7, niece of Pat3" "F" "yes" "Turkey" ">7y" "0" "" "" "" "22683713-Pat6" "00100924" "" "" "00100920" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "brother of Pat6" "M" "yes" "Turkey" "7d" "0" "" "" "" "22683713-Pat7" "00100925" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "M" "yes" "Afghanistan" "9y" "0" "" "" "" "22683713-Pat8" "00100926" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "M" "no" "Turkey" ">4y" "0" "" "" "" "22683713-Pat9" "00100927" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Poland" ">5y" "0" "" "" "" "22683713-Pat10" "00100928" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Poland" ">8y" "0" "" "" "" "22683713-Pat11" "00100929" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Italy" ">10y" "0" "" "" "" "22683713-Pat12" "00100930" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Sweden" "9y" "0" "" "" "" "22683713-Pat13" "00100931" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Sweden" "15y" "0" "" "" "" "22683713-Pat14" "00100932" "" "" "" "1" "" "00006" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Sweden" "3y" "0" "" "" "" "22683713-Pat15" "00132971" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00274171" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat37" "00426154" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "61BN3600" "00426155" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, no other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10BN16300" "00466505" "" "" "" "1" "" "00006" "{PMID:Saneto 2022:35775081}, {DOI:Saneto 2022:10.3389/fmolb.2022.908721}" "" "F" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00080949" "00623" "00100918" "00623" "00100919" "00623" "00100920" "00623" "00100921" "00623" "00100922" "00623" "00100923" "00623" "00100924" "00623" "00100925" "00623" "00100926" "00623" "00100927" "00623" "00100928" "00623" "00100929" "00623" "00100930" "00623" "00100931" "00623" "00100932" "00623" "00132971" "00198" "00274171" "00198" "00426154" "00139" "00426155" "00139" "00466505" "05421" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00623, 05421 ## Count = 21 "{{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}}" "0000060518" "00623" "00080949" "01758" "Familial, autosomal recessive" "" "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (OMIM:614739)" "" "" "" "" "" "" "" "" "" "" "" "0000079137" "00623" "00100918" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079138" "00623" "00100919" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079139" "00623" "00100920" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079140" "00623" "00100921" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079141" "00623" "00100922" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079142" "00623" "00100923" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079143" "00623" "00100924" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079144" "00623" "00100925" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079145" "00623" "00100926" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079146" "00623" "00100927" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079147" "00623" "00100928" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079148" "00623" "00100929" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079149" "00623" "00100930" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079150" "00623" "00100931" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000079151" "00623" "00100932" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000105732" "00198" "00132971" "01807" "Unknown" "" "Hyperammonemia (HP:0001987); Hypokalemia (HP:0002900); Lactic acidosis (HP:0003128); 3-Methylglutaconic aciduria (HP:0003535)" "" "" "" "" "" "" "" "" "" "" "" "0000209116" "00198" "00274171" "00006" "Familial, autosomal recessive" "" "neonatal onset; 3-MGA in urine; involvement basal ganglia; mitochondrial disease criteria score 7; muscle biopsy" "0d" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000317304" "00139" "00426154" "00006" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "" "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" "intellectual disability" "" "0000317305" "00139" "00426155" "00006" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "" "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" "intellectual disability" "" "0000351868" "05421" "00466505" "00006" "Familial, autosomal recessive" "01y10m" "see paper; ..., birth hypotonia, low weight (15%), short length (5%), microcephaly (Z -9.3); moderate sensorineural hearing loss; brother 3y-deceased, ensorineural hearing loss, no expressive language, no sit, no walk" "" "" "" "" "" "" "" "" "MEGDEL" "microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081061" "00080949" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101340" "00100918" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000101341" "00100919" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "SEQ" "DNA" "" "" "0000101342" "00100920" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101343" "00100921" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "SEQ" "DNA" "" "" "0000101344" "00100922" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000101345" "00100923" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "SEQ" "DNA" "" "" "0000101346" "00100924" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "SEQ" "DNA" "" "" "0000101347" "00100925" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "SEQ" "DNA" "" "" "0000101348" "00100926" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "SEQ" "DNA" "" "" "0000101349" "00100927" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "SEQ" "DNA" "" "" "0000101350" "00100928" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "SEQ" "DNA" "" "" "0000101351" "00100929" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000101352" "00100930" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000101353" "00100931" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "SEQ" "DNA" "" "" "0000101354" "00100932" "1" "00006" "00006" "2017-03-13 13:54:28" "" "" "SEQ" "DNA" "" "" "0000133805" "00132971" "0" "01807" "01807" "2017-11-10 16:51:25" "" "" "SEQ" "DNA" "" "" "0000275326" "00274171" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427474" "00426154" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427475" "00426155" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468168" "00466505" "1" "00006" "00006" "2025-09-08 21:24:00" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000081061" "SERAC1" "0000101340" "SERAC1" "0000101341" "SERAC1" "0000101342" "SERAC1" "0000101343" "SERAC1" "0000101344" "SERAC1" "0000101345" "SERAC1" "0000101346" "SERAC1" "0000101347" "SERAC1" "0000101348" "SERAC1" "0000101349" "SERAC1" "0000101350" "SERAC1" "0000101351" "SERAC1" "0000101352" "SERAC1" "0000101353" "SERAC1" "0000101354" "SERAC1" "0000275326" "SERAC1" ## 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 = 75 "{{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}}" "0000130147" "3" "90" "6" "158567864" "158567864" "del" "0" "01758" "SERAC1_000001" "g.158567864del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.158146832del" "" "pathogenic" "ACMG" "0000163859" "3" "90" "6" "158540201" "158540204" "del" "0" "00006" "SERAC1_000002" "g.158540201_158540204del" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "1167_1170delTCAG" "" "Germline" "" "" "0" "" "" "g.158119169_158119172del" "" "pathogenic" "" "0000163860" "1" "90" "6" "158540167" "158540167" "subst" "0" "00006" "SERAC1_000003" "g.158540167C>T" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158119135C>T" "" "pathogenic" "" "0000163861" "3" "90" "6" "158540158" "158540158" "subst" "0" "00006" "SERAC1_000004" "g.158540158C>T" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158119126C>T" "" "pathogenic" "" "0000163862" "1" "90" "6" "158538850" "158538854" "dup" "0" "00006" "SERAC1_000005" "g.158538850_158538854dup" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "1309_1313dupACATG" "" "Germline" "" "" "0" "" "" "g.158117818_158117822dup" "" "pathogenic" "" "0000163863" "3" "90" "6" "158538758" "158538758" "subst" "1.22017E-5" "00006" "SERAC1_000006" "g.158538758C>G" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158117726C>G" "" "pathogenic" "" "0000163864" "3" "90" "6" "158538758" "158538758" "subst" "1.22017E-5" "00006" "SERAC1_000006" "g.158538758C>G" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158117726C>G" "" "pathogenic" "" "0000163865" "3" "90" "6" "158537284" "158537286" "del" "0" "00006" "SERAC1_000007" "g.158537284_158537286del" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "1435_1437delCTT" "" "Germline" "" "" "0" "" "" "g.158116252_158116254del" "" "pathogenic" "" "0000163866" "2" "90" "6" "158537225" "158537225" "subst" "2.44071E-5" "00006" "SERAC1_000008" "g.158537225C>G" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158116193C>G" "" "pathogenic" "" "0000163867" "2" "90" "6" "158537225" "158537225" "subst" "2.44071E-5" "00006" "SERAC1_000008" "g.158537225C>G" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158116193C>G" "" "pathogenic" "" "0000163868" "3" "90" "6" "158535906" "158535907" "dup" "0" "00006" "SERAC1_000009" "g.158535906_158535907dup" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "1598_1599dupATAGTGTCCCTCATCAT" "" "Germline" "" "" "0" "" "" "g.158114874_158114875dup" "" "pathogenic" "" "0000163869" "3" "90" "6" "158535878" "158535879" "dup" "0" "00006" "SERAC1_000010" "g.158535878_158535879dup" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "1627_1628dupTC" "" "Germline" "" "" "0" "" "" "g.158114846_158114847dup" "" "pathogenic" "" "0000163870" "1" "90" "6" "158534471" "158534487" "delins" "0" "00006" "SERAC1_000011" "g.158534471_158534487delinsCCTGTTGGT" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG" "" "Germline" "" "" "0" "" "" "g.158113439_158113455delinsCCTGTTGGT" "" "pathogenic" "" "0000163871" "2" "90" "6" "158534471" "158534487" "delins" "0" "00006" "SERAC1_000011" "g.158534471_158534487delinsCCTGTTGGT" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG" "" "Germline" "" "" "0" "" "" "g.158113439_158113455delinsCCTGTTGGT" "" "pathogenic" "" "0000163872" "2" "90" "6" "158534471" "158534487" "delins" "0" "00006" "SERAC1_000011" "g.158534471_158534487delinsCCTGTTGGT" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG" "" "Germline" "" "" "0" "" "" "g.158113439_158113455delinsCCTGTTGGT" "" "pathogenic" "" "0000163873" "2" "90" "6" "158532439" "158532439" "subst" "0" "00006" "SERAC1_000012" "g.158532439G>A" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158111407G>A" "" "pathogenic" "" "0000163874" "3" "90" "6" "158567859" "158567859" "subst" "2.03092E-5" "00006" "SERAC1_000013" "g.158567859G>A" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158146827G>A" "" "pathogenic" "" "0000163875" "3" "90" "6" "158567859" "158567859" "subst" "2.03092E-5" "00006" "SERAC1_000013" "g.158567859G>A" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158146827G>A" "" "pathogenic" "" "0000163876" "3" "90" "6" "158567859" "158567859" "subst" "2.03092E-5" "00006" "SERAC1_000013" "g.158567859G>A" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158146827G>A" "" "pathogenic" "" "0000163877" "1" "90" "6" "158567838" "158567848" "dup" "0" "00006" "SERAC1_000014" "g.158567838_158567848dup" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158146806_158146816dup" "" "pathogenic" "" "0000163878" "1" "90" "6" "158565369" "158565369" "del" "0" "00006" "SERAC1_000015" "g.158565369del" "" "{PMID:Wortmann 2012:22683713}, {DOI:Wortmann 2012:10.1038/ng.2325}" "" "" "" "Germline" "" "" "0" "" "" "g.158144337del" "" "pathogenic" "" "0000223233" "0" "90" "6" "158537230" "158537230" "dup" "0" "01807" "SERAC1_000016" "g.158537230dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.158116198dup" "" "pathogenic" "" "0000298105" "0" "10" "6" "158541618" "158541618" "subst" "0.0215992" "02325" "SERAC1_000025" "g.158541618G>A" "" "" "" "SERAC1(NM_032861.4):c.1016-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158120586G>A" "" "benign" "" "0000298106" "0" "90" "6" "158541512" "158541513" "del" "0" "02325" "SERAC1_000024" "g.158541512_158541513del" "" "" "" "SERAC1(NM_032861.4):c.1112_1113delTG (p.V371Afs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158120480_158120481del" "" "pathogenic" "" "0000298107" "0" "50" "6" "158534493" "158534493" "subst" "0" "02325" "SERAC1_000018" "g.158534493C>T" "" "" "" "SERAC1(NM_032861.4):c.1816G>A (p.V606M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158113461C>T" "" "VUS" "" "0000298108" "0" "10" "6" "158571501" "158571501" "subst" "0.723696" "02325" "SERAC1_000029" "g.158571501G>A" "" "" "" "SERAC1(NM_032861.4):c.249C>T (p.D83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158150469G>A" "" "benign" "" "0000298109" "0" "10" "6" "158569886" "158569886" "subst" "0.481169" "02325" "SERAC1_000027" "g.158569886T>C" "" "" "" "SERAC1(NM_032861.4):c.355+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158148854T>C" "" "benign" "" "0000307893" "0" "30" "6" "158569911" "158569911" "subst" "4.93101E-5" "01943" "SERAC1_000028" "g.158569911C>T" "" "" "" "SERAC1(NM_032861.3):c.341G>A (p.R114Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158148879C>T" "" "likely benign" "" "0000307894" "0" "50" "6" "158565357" "158565357" "subst" "9.3617E-5" "01943" "SERAC1_000026" "g.158565357G>A" "" "" "" "SERAC1(NM_032861.3):c.583C>T (p.P195S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158144325G>A" "" "VUS" "" "0000331325" "0" "50" "6" "158532430" "158532430" "subst" "0.000380456" "01804" "SERAC1_000017" "g.158532430G>A" "" "" "" "SERAC1(NM_032861.3):c.1933C>T (p.R645C, p.(Arg645Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158111398G>A" "" "VUS" "" "0000331326" "0" "50" "6" "158534544" "158534544" "subst" "8.12625E-6" "01804" "SERAC1_000019" "g.158534544C>T" "" "" "" "SERAC1(NM_032861.3):c.1765G>A (p.(Glu589Lys)), SERAC1(NM_032861.4):c.1765G>A (p.E589K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158113512C>T" "" "VUS" "" "0000331327" "0" "50" "6" "158537214" "158537214" "subst" "0" "01804" "SERAC1_000021" "g.158537214T>G" "" "" "" "SERAC1(NM_032861.3):c.1501+3A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158116182T>G" "" "VUS" "" "0000331329" "0" "50" "6" "158540074" "158540074" "subst" "1.63574E-5" "01804" "SERAC1_000023" "g.158540074G>A" "" "" "" "SERAC1(NM_032861.3):c.1295C>T (p.(Thr432Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158119042G>A" "" "VUS" "" "0000331330" "0" "50" "6" "158576376" "158576378" "del" "0" "01804" "SERAC1_000030" "g.158576376_158576378del" "" "" "" "SERAC1(NM_032861.3):c.101_103del (p.(Ile34del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158155344_158155346del" "" "VUS" "" "0000331331" "0" "30" "6" "158579307" "158579307" "subst" "0.00236346" "01804" "SERAC1_000031" "g.158579307A>G" "" "" "" "SERAC1(NM_032861.3):c.89T>C (p.(Ile30Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158158275A>G" "" "likely benign" "" "0000331332" "0" "30" "6" "158579334" "158579334" "subst" "0.000731553" "01804" "SERAC1_000032" "g.158579334G>A" "" "" "" "SERAC1(NM_032861.3):c.62C>T (p.P21L, p.(Pro21Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158158302G>A" "" "likely benign" "" "0000337299" "0" "10" "6" "158569886" "158569886" "subst" "0.481169" "02327" "SERAC1_000027" "g.158569886T>C" "" "" "" "SERAC1(NM_032861.4):c.355+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158148854T>C" "" "benign" "" "0000339501" "0" "10" "6" "158571501" "158571501" "subst" "0.723696" "02327" "SERAC1_000029" "g.158571501G>A" "" "" "" "SERAC1(NM_032861.4):c.249C>T (p.D83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158150469G>A" "" "benign" "" "0000342116" "0" "90" "6" "158565393" "158565393" "subst" "1.21972E-5" "02327" "SERAC1_000034" "g.158565393G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158144361G>A" "" "pathogenic" "" "0000343254" "0" "90" "6" "158571548" "158571548" "subst" "2.44541E-5" "02327" "SERAC1_000035" "g.158571548G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158150516G>A" "" "pathogenic" "" "0000527772" "0" "70" "6" "158534544" "158534544" "subst" "8.12625E-6" "02327" "SERAC1_000019" "g.158534544C>T" "" "" "" "SERAC1(NM_032861.3):c.1765G>A (p.(Glu589Lys)), SERAC1(NM_032861.4):c.1765G>A (p.E589K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158113512C>T" "" "likely pathogenic" "" "0000527773" "0" "50" "6" "158534621" "158534621" "subst" "0.000187341" "01943" "SERAC1_000037" "g.158534621G>C" "" "" "" "SERAC1(NM_032861.3):c.1688C>G (p.S563C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158113589G>C" "" "VUS" "" "0000527774" "0" "90" "6" "158535878" "158535879" "dup" "0" "01943" "SERAC1_000038" "g.158535878_158535879dup" "" "" "" "SERAC1(NM_032861.3):c.1628_1629dupCT (p.V544Lfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158114846_158114847dup" "" "pathogenic" "" "0000527775" "0" "30" "6" "158541539" "158541539" "subst" "7.32035E-5" "02325" "SERAC1_000039" "g.158541539T>A" "" "" "" "SERAC1(NM_032861.4):c.1084A>T (p.I362F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158120507T>A" "" "likely benign" "" "0000527776" "0" "30" "6" "158549238" "158549238" "subst" "0.000759687" "01943" "SERAC1_000040" "g.158549238C>T" "" "" "" "SERAC1(NM_032861.3):c.917G>A (p.R306Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158128206C>T" "" "likely benign" "" "0000527777" "0" "50" "6" "158567844" "158567844" "subst" "1.21888E-5" "01943" "SERAC1_000041" "g.158567844G>A" "" "" "" "SERAC1(NM_032861.3):c.457C>T (p.R153W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158146812G>A" "" "VUS" "" "0000527778" "0" "50" "6" "158567937" "158567937" "subst" "0.000301494" "01943" "SERAC1_000042" "g.158567937T>C" "" "" "" "SERAC1(NM_032861.3):c.364A>G (p.S122G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158146905T>C" "" "VUS" "" "0000527779" "0" "50" "6" "158571611" "158571611" "subst" "0.0159655" "01943" "SERAC1_000043" "g.158571611A>T" "" "" "" "SERAC1(NM_032861.3):c.139T>A (p.F47I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158150579A>T" "" "VUS" "" "0000527781" "0" "10" "6" "158579334" "158579334" "subst" "0.000731553" "01943" "SERAC1_000032" "g.158579334G>A" "" "" "" "SERAC1(NM_032861.3):c.62C>T (p.P21L, p.(Pro21Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158158302G>A" "" "benign" "" "0000527782" "0" "50" "6" "158579367" "158579367" "subst" "4.06339E-6" "01943" "SERAC1_000045" "g.158579367C>G" "" "" "" "SERAC1(NM_032861.3):c.29G>C (p.C10S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158158335C>G" "" "VUS" "" "0000527783" "0" "30" "6" "158579406" "158579406" "subst" "0.000586388" "01943" "SERAC1_000046" "g.158579406T>C" "" "" "" "SERAC1(NM_032861.3):c.-1-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158158374T>C" "" "likely benign" "" "0000527784" "0" "30" "6" "158589162" "158589162" "subst" "0" "01943" "GTF2H5_000003" "g.158589162C>T" "" "" "" "SERAC1(NM_032861.3):c.-2+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158168130C>T" "" "likely benign" "" "0000610190" "0" "50" "6" "158564219" "158564219" "subst" "0" "01943" "SERAC1_000049" "g.158564219G>T" "" "" "" "SERAC1(NM_032861.3):c.610-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158143187G>T" "" "VUS" "" "0000610191" "0" "50" "6" "158579396" "158579396" "subst" "0.000236827" "02325" "SERAC1_000051" "g.158579396T>A" "" "" "" "SERAC1(NM_032861.4):c.-1A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158158364T>A" "" "VUS" "" "0000621661" "0" "30" "6" "158535846" "158535846" "subst" "0.000394354" "01943" "SERAC1_000047" "g.158535846C>T" "" "" "" "SERAC1(NM_032861.3):c.1659G>A (p.S553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158114814C>T" "" "likely benign" "" "0000621662" "0" "50" "6" "158549179" "158549179" "subst" "4.06299E-6" "01943" "SERAC1_000048" "g.158549179C>A" "" "" "" "SERAC1(NM_032861.3):c.976G>T (p.A326S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158128147C>A" "" "VUS" "" "0000621663" "0" "30" "6" "158579374" "158579374" "subst" "0.000459245" "01943" "SERAC1_000050" "g.158579374C>T" "" "" "" "SERAC1(NM_032861.3):c.22G>A (p.V8I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158158342C>T" "" "likely benign" "" "0000629290" "3" "90" "6" "158534471" "158534487" "delins" "0" "00006" "SERAC1_000052" "g.158534471_158534487delinsTTGGT" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.158113439_158113455delinsTTGGT" "" "pathogenic" "" "0000655528" "0" "50" "6" "158565374" "158565374" "subst" "0.000158522" "01943" "SERAC1_000053" "g.158565374A>C" "" "" "" "SERAC1(NM_032861.3):c.566T>G (p.L189R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158144342A>C" "" "VUS" "" "0000677672" "0" "30" "6" "158567927" "158567927" "subst" "0" "01804" "SERAC1_000054" "g.158567927T>C" "" "" "" "SERAC1(NM_032861.3):c.374A>G (p.(Asp125Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720791" "0" "70" "6" "158540158" "158540158" "subst" "0" "01943" "SERAC1_000004" "g.158540158C>T" "" "" "" "SERAC1(NM_032861.3):c.1211G>A (p.G404E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802420" "0" "30" "6" "158538872" "158538873" "del" "0" "02326" "SERAC1_000055" "g.158538872_158538873del" "" "" "" "SERAC1(NM_032861.4):c.1309-18_1309-17delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802421" "0" "30" "6" "158565416" "158565416" "subst" "3.66327E-5" "02326" "SERAC1_000056" "g.158565416G>A" "" "" "" "SERAC1(NM_032861.4):c.524C>T (p.(Pro175Leu), p.P175L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851125" "0" "30" "6" "158532430" "158532430" "subst" "0.000380456" "01943" "SERAC1_000017" "g.158532430G>A" "" "" "" "SERAC1(NM_032861.3):c.1933C>T (p.R645C, p.(Arg645Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904834" "3" "70" "6" "158576395" "158576399" "del" "0" "00006" "SERAC1_000036" "g.158576395_158576399del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.158155363_158155367del" "" "VUS" "" "0000904835" "3" "70" "6" "158576395" "158576399" "del" "0" "00006" "SERAC1_000036" "g.158576395_158576399del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.158155363_158155367del" "" "VUS" "" "0000912429" "0" "30" "6" "158576339" "158576339" "subst" "4.98567E-5" "02326" "SERAC1_000057" "g.158576339C>T" "" "" "" "SERAC1(NM_032861.4):c.128+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912430" "0" "30" "6" "158589152" "158589152" "subst" "0" "02326" "GTF2H5_000004" "g.158589152C>A" "" "" "" "SERAC1(NM_032861.4):c.-2+20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929160" "0" "30" "6" "158535864" "158535864" "subst" "2.84507E-5" "02326" "SERAC1_000058" "g.158535864G>A" "" "" "" "SERAC1(NM_032861.4):c.1641C>T (p.R547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929161" "0" "90" "6" "158540060" "158540060" "subst" "0" "02327" "SERAC1_000059" "g.158540060C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948677" "0" "50" "6" "158534544" "158534544" "subst" "8.12625E-6" "02326" "SERAC1_000019" "g.158534544C>T" "" "" "" "SERAC1(NM_032861.3):c.1765G>A (p.(Glu589Lys)), SERAC1(NM_032861.4):c.1765G>A (p.E589K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977070" "0" "30" "6" "158565416" "158565416" "subst" "3.66327E-5" "01804" "SERAC1_000056" "g.158565416G>A" "" "" "" "SERAC1(NM_032861.4):c.524C>T (p.(Pro175Leu), p.P175L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995520" "0" "50" "6" "158567864" "158567864" "del" "0" "01804" "SERAC1_000001" "g.158567864del" "" "" "" "SERAC1(NM_032861.3):c.438delC (p.(Thr147fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035598" "0" "50" "6" "158540180" "158540180" "subst" "0" "01804" "SERAC1_000061" "g.158540180G>C" "" "" "" "SERAC1(NM_032861.4):c.1189C>G (p.(Leu397Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047885" "3" "90" "6" "158534546" "158534546" "del" "3.65717E-5" "00006" "SERAC1_000062" "g.158534546del" "" "{PMID:Saneto 2022:35775081}, {DOI:Saneto 2022:10.3389/fmolb.2022.908721}" "" "1763delT" "" "Germline" "" "" "0" "" "" "g.158113514del" "" "pathogenic (recessive)" "" ## 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 SERAC1 ## Count = 75 "{{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}}" "0000130147" "00018684" "90" "438" "0" "438" "0" "c.438del" "r.(?)" "p.(Thr147Argfs*22)" "" "0000163859" "00018684" "90" "1167" "0" "1170" "0" "c.1167_1170del" "r.1167_1308del" "p.Ser389Argfs*4" "12" "0000163860" "00018684" "90" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Gly401Asp)" "12" "0000163861" "00018684" "90" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Gly404Glu)" "12" "0000163862" "00018684" "90" "1309" "0" "1313" "0" "c.1309_1313dup" "r.(?)" "p.(Trp438*)" "13" "0000163863" "00018684" "90" "1403" "1" "1403" "1" "c.1403+1G>C" "r.1309_1403del" "p.Thr437Lysfs*12" "13i" "0000163864" "00018684" "90" "1403" "1" "1403" "1" "c.1403+1G>C" "r.1309_1403del" "p.Thr437Lysfs*12" "13i" "0000163865" "00018684" "90" "1435" "0" "1437" "0" "c.1435_1437del" "r.(?)" "p.(Leu479del)" "14" "0000163866" "00018684" "90" "1493" "0" "1493" "0" "c.1493G>C" "r.(?)" "p.(Ser498Thr)" "14" "0000163867" "00018684" "90" "1493" "0" "1493" "0" "c.1493G>C" "r.(?)" "p.(Ser498Thr)" "14" "0000163868" "00018684" "90" "1599" "0" "1600" "0" "c.1599_1600dup" "r.(?)" "p.(His534Leufs*53)" "15" "0000163869" "00018684" "90" "1628" "0" "1629" "0" "c.1628_1629dup" "r.(?)" "p.(Val544Leufs*43)" "15" "0000163870" "00018684" "90" "1822" "0" "1828" "10" "c.1822_1828+10delinsACCAACAGG" "r.spl?" "p.?" "16_16i" "0000163871" "00018684" "90" "1822" "0" "1828" "10" "c.1822_1828+10delinsACCAACAGG" "r.spl?" "p.?" "16_16i" "0000163872" "00018684" "90" "1822" "0" "1828" "10" "c.1822_1828+10delinsACCAACAGG" "r.1822_1828+10delinsACCAACAGGins1828+11_1829-1" "p.?" "16_16i" "0000163873" "00018684" "90" "1924" "0" "1924" "0" "c.1924C>T" "r.(?)" "p.(Gln642*)" "17" "0000163874" "00018684" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148*)" "6" "0000163875" "00018684" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148*)" "6" "0000163876" "00018684" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148*)" "6" "0000163877" "00018684" "90" "456" "0" "466" "0" "c.456_466dup" "r.(?)" "p.(Ser156Cysfs*17)" "6" "0000163878" "00018684" "90" "576" "0" "576" "0" "c.576del" "r.(?)" "p.(Leu193Serfs*9)" "7" "0000223233" "00018684" "90" "1488" "0" "1488" "0" "c.1488dup" "r.(?)" "p.(His497Thrfs*2)" "" "0000298105" "00018684" "10" "1016" "-11" "1016" "-11" "c.1016-11C>T" "r.(=)" "p.(=)" "" "0000298106" "00018684" "90" "1112" "0" "1113" "0" "c.1112_1113del" "r.(?)" "p.(Val371AlafsTer22)" "" "0000298107" "00018684" "50" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Val606Met)" "" "0000298108" "00018684" "10" "249" "0" "249" "0" "c.249C>T" "r.(?)" "p.(Asp83=)" "" "0000298109" "00018684" "10" "355" "11" "355" "11" "c.355+11A>G" "r.(=)" "p.(=)" "" "0000307893" "00018684" "30" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114Gln)" "" "0000307894" "00018684" "50" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Pro195Ser)" "" "0000331325" "00018684" "50" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Arg645Cys)" "" "0000331326" "00018684" "50" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Glu589Lys)" "" "0000331327" "00018684" "50" "1501" "3" "1501" "3" "c.1501+3A>C" "r.spl?" "p.?" "" "0000331329" "00018684" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Thr432Met)" "" "0000331330" "00018684" "50" "101" "0" "103" "0" "c.101_103del" "r.(?)" "p.(Ile34del)" "" "0000331331" "00018684" "30" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Ile30Thr)" "" "0000331332" "00018684" "30" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Pro21Leu)" "" "0000337299" "00018684" "10" "355" "11" "355" "11" "c.355+11A>G" "r.(=)" "p.(=)" "" "0000339501" "00018684" "10" "249" "0" "249" "0" "c.249C>T" "r.(?)" "p.(Asp83=)" "" "0000342116" "00018684" "90" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Ter)" "" "0000343254" "00018684" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Ter)" "" "0000527772" "00018684" "70" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Glu589Lys)" "" "0000527773" "00018684" "50" "1688" "0" "1688" "0" "c.1688C>G" "r.(?)" "p.(Ser563Cys)" "" "0000527774" "00018684" "90" "1628" "0" "1629" "0" "c.1628_1629dup" "r.(?)" "p.(Val544LeufsTer43)" "" "0000527775" "00018684" "30" "1084" "0" "1084" "0" "c.1084A>T" "r.(?)" "p.(Ile362Phe)" "" "0000527776" "00018684" "30" "917" "0" "917" "0" "c.917G>A" "r.(?)" "p.(Arg306Gln)" "" "0000527777" "00018684" "50" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153Trp)" "" "0000527778" "00018684" "50" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Ser122Gly)" "" "0000527779" "00018684" "50" "139" "0" "139" "0" "c.139T>A" "r.(?)" "p.(Phe47Ile)" "" "0000527781" "00018684" "10" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Pro21Leu)" "" "0000527782" "00018684" "50" "29" "0" "29" "0" "c.29G>C" "r.(?)" "p.(Cys10Ser)" "" "0000527783" "00018684" "30" "-1" "-10" "-1" "-10" "c.-1-10A>G" "r.(=)" "p.(=)" "" "0000527784" "00018684" "30" "-2" "10" "-2" "10" "c.-2+10G>A" "r.(=)" "p.(=)" "" "0000610190" "00018684" "50" "610" "-3" "610" "-3" "c.610-3C>A" "r.spl?" "p.?" "" "0000610191" "00018684" "50" "-1" "0" "-1" "0" "c.-1A>T" "r.(?)" "p.(=)" "" "0000621661" "00018684" "30" "1659" "0" "1659" "0" "c.1659G>A" "r.(?)" "p.(Ser553=)" "" "0000621662" "00018684" "50" "976" "0" "976" "0" "c.976G>T" "r.(?)" "p.(Ala326Ser)" "" "0000621663" "00018684" "30" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Val8Ile)" "" "0000629290" "00018684" "90" "1822" "0" "1828" "10" "c.1822_1828+10delinsACCAA" "r.spl?" "p.?" "" "0000655528" "00018684" "50" "566" "0" "566" "0" "c.566T>G" "r.(?)" "p.(Leu189Arg)" "" "0000677672" "00018684" "30" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asp125Gly)" "" "0000720791" "00018684" "70" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Gly404Glu)" "" "0000802420" "00018684" "30" "1309" "-18" "1309" "-17" "c.1309-18_1309-17del" "r.(=)" "p.(=)" "" "0000802421" "00018684" "30" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Pro175Leu)" "" "0000851125" "00018684" "30" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Arg645Cys)" "" "0000904834" "00018684" "70" "92" "-14" "92" "-10" "c.92-14_92-10del" "r.spl?" "p.?" "" "0000904835" "00018684" "70" "92" "-14" "92" "-10" "c.92-14_92-10del" "r.spl?" "p.?" "" "0000912429" "00018684" "30" "128" "8" "128" "8" "c.128+8G>A" "r.(=)" "p.(=)" "" "0000912430" "00018684" "30" "-2" "20" "-2" "20" "c.-2+20G>T" "r.(=)" "p.(=)" "" "0000929160" "00018684" "30" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(=)" "" "0000929161" "00018684" "90" "1308" "1" "1308" "1" "c.1308+1G>A" "r.spl?" "p.?" "" "0000948677" "00018684" "50" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Glu589Lys)" "" "0000977070" "00018684" "30" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Pro175Leu)" "" "0000995520" "00018684" "50" "438" "0" "438" "0" "c.438del" "r.(?)" "p.(Thr147Argfs*22)" "" "0001035598" "00018684" "50" "1189" "0" "1189" "0" "c.1189C>G" "r.(?)" "p.(Leu397Val)" "" "0001047885" "00018684" "90" "1763" "0" "1763" "0" "c.1763del" "r.(?)" "p.(Val588GlyfsTer11)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000081061" "0000130147" "0000101340" "0000163859" "0000101341" "0000163869" "0000101342" "0000163874" "0000101343" "0000163865" "0000101344" "0000163863" "0000101345" "0000163875" "0000101346" "0000163876" "0000101347" "0000163861" "0000101348" "0000163868" "0000101349" "0000163862" "0000101349" "0000163871" "0000101350" "0000163870" "0000101350" "0000163873" "0000101351" "0000163864" "0000101352" "0000163860" "0000101352" "0000163872" "0000101353" "0000163866" "0000101353" "0000163878" "0000101354" "0000163867" "0000101354" "0000163877" "0000133805" "0000223233" "0000275326" "0000629290" "0000427474" "0000904834" "0000427475" "0000904835" "0000468168" "0001047885"