### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABAT) # 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}}" "ABAT" "4-aminobutyrate aminotransferase" "16" "p13.2" "unknown" "NC_000016.9" "UD_132084420445" "" "https://www.LOVD.nl/ABAT" "" "1" "23" "18" "137150" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-08-15 16:49:26" "00000" "2025-07-08 13:22:38" ## 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}}" "00001843" "ABAT" "transcript variant 1" "001" "NM_020686.5" "" "NP_065737.2" "" "" "" "-166" "4648" "1503" "8768444" "8878432" "" "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" "03273" "GABATD" "GABA-transaminase deficiency" "AR" "613163" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-08-15 16:50:35" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ABAT" "03273" ## 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}}" "00291567" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291573" "" "" "" "170" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291574" "" "" "" "233" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291575" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304545" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304546" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361504" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "13DG1093" "00387805" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Zaboli" "M8700022" "00448185" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "M" "" "Chile" "" "0" "" "" "" "Pat48" "00453028" "" "" "" "2" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "4-generation family, 2 affected sisters,, heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00291567" "00198" "00291573" "00198" "00291574" "00198" "00291575" "00198" "00304545" "00198" "00304546" "00198" "00361504" "00139" "00387805" "00139" "00448185" "00198" "00453028" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03273, 05611 ## Count = 4 "{{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}}" "0000256909" "00139" "00361504" "00006" "Familial, autosomal recessive" "1y5m" "syndromic; global developmental delay with hypotonia , seizures and dysmorphism" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281373" "00139" "00387805" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000337395" "00198" "00448185" "00006" "Familial, autosomal recessive" "1m" "polyhydramnios; decreased fetal movement; seizures. deceased. two affected siblings, deceased." "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000341673" "05611" "00453028" "03566" "Familial, autosomal recessive" "" "moderate intellectual disability, development delay, speech problems, aggressive behavior" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## 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}}" "0000292735" "00291567" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292741" "00291573" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292742" "00291574" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292743" "00291575" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305674" "00304545" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305675" "00304546" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362732" "00361504" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000389036" "00387805" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449760" "00448185" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454639" "00453028" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000362732" "ABAT" "0000389036" "ABAT" ## 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 = 28 "{{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}}" "0000248883" "0" "10" "16" "8839954" "8839954" "subst" "0.592384" "02325" "ABAT_000002" "g.8839954A>G" "" "" "" "ABAT(NM_000663.5):c.167A>G (p.Q56R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8746097A>G" "" "benign" "" "0000258824" "0" "10" "16" "8841960" "8841960" "subst" "0.581911" "02325" "ABAT_000003" "g.8841960T>C" "" "" "" "ABAT(NM_000663.5):c.169-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8748103T>C" "" "benign" "" "0000258825" "0" "10" "16" "8858580" "8858580" "subst" "0.902283" "02325" "ABAT_000004" "g.8858580T>A" "" "" "" "ABAT(NM_000663.5):c.448-15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8764723T>A" "" "benign" "" "0000258826" "0" "10" "16" "8868776" "8868776" "subst" "0.389235" "02325" "ABAT_000005" "g.8868776C>A" "" "" "" "ABAT(NM_000663.5):c.984C>A (p.V328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8774919C>A" "" "benign" "" "0000261564" "0" "30" "16" "8829626" "8829626" "subst" "0.00188" "01943" "ABAT_000001" "g.8829626G>A" "" "" "" "ABAT(NM_000663.4):c.30G>A (p.L10=), ABAT(NM_020686.6):c.30G>A (p.L10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8735769G>A" "" "likely benign" "" "0000616205" "0" "50" "16" "8870208" "8870208" "subst" "8.12394E-6" "01943" "ABAT_000007" "g.8870208G>A" "" "" "" "ABAT(NM_000663.4):c.1130G>A (p.R377Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8776351G>A" "" "VUS" "" "0000649424" "1" "90" "16" "8844355" "8844355" "subst" "0" "03575" "ABAT_000008" "g.8844355G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs724159992}" "Germline" "" "rs724159992" "0" "" "" "g.8750498G>A" "" "pathogenic" "" "0000649430" "1" "30" "16" "8876497" "8876497" "subst" "0" "03575" "ABAT_000009" "g.8876497T>C" "170/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "170 heterozygous; {DB:CLININrs17674530}" "Germline" "" "rs17674530" "0" "" "" "g.8782640T>C" "" "likely benign" "" "0000649431" "1" "30" "16" "8876788" "8876788" "subst" "0" "03575" "ABAT_000010" "g.8876788A>G" "233/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "233 heterozygous; {DB:CLININrs17651562}" "Germline" "" "rs17651562" "0" "" "" "g.8782931A>G" "" "likely benign" "" "0000649432" "1" "50" "16" "8878273" "8878273" "subst" "0" "03575" "ABAT_000011" "g.8878273T>C" "20/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous, no homozygous; {DB:CLININrs79763179}" "Germline" "" "rs79763179" "0" "" "" "g.8784416T>C" "" "VUS" "" "0000669362" "3" "30" "16" "8876497" "8876497" "subst" "0" "03575" "ABAT_000009" "g.8876497T>C" "9/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 homozygous; {DB:CLININrs17674530}" "Germline" "" "rs17674530" "0" "" "" "g.8782640T>C" "" "likely benign" "" "0000669363" "3" "30" "16" "8876788" "8876788" "subst" "0" "03575" "ABAT_000010" "g.8876788A>G" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs17651562}" "Germline" "" "rs17651562" "0" "" "" "g.8782931A>G" "" "likely benign" "" "0000692177" "0" "50" "16" "8868793" "8868793" "subst" "0" "01943" "ABAT_000012" "g.8868793G>A" "" "" "" "ABAT(NM_000663.4):c.1001G>A (p.C334Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763106" "3" "70" "16" "8862723" "8862723" "subst" "0" "00006" "ABAT_000013" "g.8862723G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.8768866G>A" "" "likely pathogenic" "ACMG" "0000807640" "0" "30" "16" "8844347" "8844347" "subst" "0.000889492" "01943" "ABAT_000014" "g.8844347C>T" "" "" "" "ABAT(NM_000663.4):c.267C>T (p.D89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807641" "0" "90" "16" "8844355" "8844355" "subst" "0" "01943" "ABAT_000008" "g.8844355G>A" "" "" "" "ABAT(NM_000663.4):c.275G>A (p.R92Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000817829" "3" "90" "16" "8862077" "8862077" "subst" "0" "00006" "ABAT_000015" "g.8862077C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.8768220C>T" "" "pathogenic (recessive)" "ACMG" "0000854693" "0" "10" "16" "8862698" "8862698" "subst" "0.00301325" "02326" "ABAT_000016" "g.8862698G>A" "" "" "" "ABAT(NM_020686.6):c.684G>A (p.T228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914703" "0" "30" "16" "8829626" "8829626" "subst" "0.00188" "02326" "ABAT_000001" "g.8829626G>A" "" "" "" "ABAT(NM_000663.4):c.30G>A (p.L10=), ABAT(NM_020686.6):c.30G>A (p.L10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914706" "0" "30" "16" "8862087" "8862087" "subst" "0.00246481" "02326" "ABAT_000017" "g.8862087T>C" "" "" "" "ABAT(NM_020686.6):c.641T>C (p.M214T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960243" "3" "90" "16" "8839956" "8839956" "subst" "0" "00006" "ABAT_000018" "g.8839956G>A" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.8746099G>A" "635252" "pathogenic (recessive)" "" "0000982141" "0" "50" "16" "8829621" "8829621" "subst" "0.00011569" "01804" "ABAT_000019" "g.8829621C>T" "" "" "" "ABAT(NM_020686.6):c.25C>T (p.(Arg9Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982150" "0" "50" "16" "8862754" "8862754" "subst" "8.12156E-6" "01804" "ABAT_000020" "g.8862754C>T" "" "" "" "ABAT(NM_020686.6):c.740C>T (p.(Pro247Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989528" "3" "50" "16" "8875223" "8875223" "subst" "0" "03566" "ABAT_000021" "g.8875223T>G" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.8781366T>G" "" "VUS" "" "0001041417" "0" "50" "16" "8829615" "8829615" "subst" "4.306E-5" "01804" "ABAT_000022" "g.8829615G>A" "" "" "" "ABAT(NM_020686.6):c.19G>A (p.(Ala7Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041429" "0" "50" "16" "8866661" "8866661" "subst" "0" "01804" "ABAT_000023" "g.8866661C>G" "" "" "" "ABAT(NM_020686.6):c.841C>G (p.(Arg281Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046582" "0" "30" "16" "8858719" "8858722" "dup" "0" "02326" "ABAT_000024" "g.8858719_8858722dup" "" "" "" "ABAT(NM_020686.6):c.540+32_540+35dupCACA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046583" "0" "30" "16" "8858721" "8858722" "dup" "0" "02326" "ABAT_000025" "g.8858721_8858722dup" "" "" "" "ABAT(NM_020686.6):c.540+34_540+35dupCA" "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 ABAT ## Count = 28 "{{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}}" "0000248883" "00001843" "10" "167" "0" "167" "0" "c.167A>G" "r.(?)" "p.(Gln56Arg)" "" "0000258824" "00001843" "10" "169" "-5" "169" "-5" "c.169-5T>C" "r.spl?" "p.?" "" "0000258825" "00001843" "10" "448" "-15" "448" "-15" "c.448-15T>A" "r.(=)" "p.(=)" "" "0000258826" "00001843" "10" "984" "0" "984" "0" "c.984C>A" "r.(?)" "p.(Val328=)" "" "0000261564" "00001843" "30" "30" "0" "30" "0" "c.30G>A" "r.(?)" "p.(Leu10=)" "" "0000616205" "00001843" "50" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Gln)" "" "0000649424" "00001843" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000649430" "00001843" "30" "2713" "0" "2713" "0" "c.*1210T>C" "r.(=)" "p.(=)" "" "0000649431" "00001843" "30" "3004" "0" "3004" "0" "c.*1501A>G" "r.(=)" "p.(=)" "" "0000649432" "00001843" "50" "4489" "0" "4489" "0" "c.*2986T>C" "r.(=)" "p.(=)" "" "0000669362" "00001843" "30" "2713" "0" "2713" "0" "c.*1210T>C" "r.(=)" "p.(=)" "" "0000669363" "00001843" "30" "3004" "0" "3004" "0" "c.*1501A>G" "r.(=)" "p.(=)" "" "0000692177" "00001843" "50" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Cys334Tyr)" "" "0000763106" "00001843" "70" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Asp237Asn)" "" "0000807640" "00001843" "30" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(Asp89=)" "" "0000807641" "00001843" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000817829" "00001843" "90" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Leu211Phe)" "" "0000854693" "00001843" "10" "684" "0" "684" "0" "c.684G>A" "r.(?)" "p.(Thr228=)" "" "0000914703" "00001843" "30" "30" "0" "30" "0" "c.30G>A" "r.(?)" "p.(Leu10=)" "" "0000914706" "00001843" "30" "641" "0" "641" "0" "c.641T>C" "r.(?)" "p.(Met214Thr)" "" "0000960243" "00001843" "90" "168" "1" "168" "1" "c.168+1G>A" "r.spl" "p.?" "" "0000982141" "00001843" "50" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Arg9Cys)" "" "0000982150" "00001843" "50" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Pro247Leu)" "" "0000989528" "00001843" "50" "1439" "0" "1439" "0" "c.1439T>G" "r.(?)" "p.(Phe480Cys)" "" "0001041417" "00001843" "50" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Ala7Thr)" "" "0001041429" "00001843" "50" "841" "0" "841" "0" "c.841C>G" "r.(?)" "p.(Arg281Gly)" "" "0001046582" "00001843" "30" "540" "32" "540" "35" "c.540+32_540+35dup" "r.(=)" "p.(=)" "" "0001046583" "00001843" "30" "540" "34" "540" "35" "c.540+34_540+35dup" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000292735" "0000649424" "0000292741" "0000649430" "0000292742" "0000649431" "0000292743" "0000649432" "0000305674" "0000669362" "0000305675" "0000669363" "0000362732" "0000763106" "0000389036" "0000817829" "0000449760" "0000960243" "0000454639" "0000989528"