### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SARS2) # 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}}" "SARS2" "seryl-tRNA synthetase 2, mitochondrial" "19" "q13.2" "unknown" "NG_031865.1" "UD_134408214522" "" "http://www.LOVD.nl/SARS2" "" "1" "17697" "54938" "612804" "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/SARS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-09 12:31:51" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018414" "SARS2" "transcript variant 2" "001" "NM_017827.3" "" "NP_060297.1" "" "" "" "-160" "1899" "1557" "39421536" "39405904" "" "0000-00-00 00:00:00" "" "" "00024126" "SARS2" "transcript variant 1" "002" "NM_001145901.1" "" "NP_001139373.1" "" "" "" "-160" "1905" "1563" "39421536" "39405904" "00006" "2016-05-09 12:30:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "03461" "HUPRAS" "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (HUPRAS)" "AR" "613845" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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}}" "SARS2" "03461" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00288226" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat36" "00292117" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00467780" "" "" "" "1" "" "00006" "{PMID:Charng 2016:27435318}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam017PatBAB6717" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00288226" "00198" "00292117" "00198" "00467780" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03461, 05611 ## Count = 2 "{{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}}" "0000221963" "00198" "00288226" "00006" "Familial" "9y" "microcephaly, cataract, spastic tetraparesis, muscular hypotonia, severe global developmental delay, abnormality of lateral ventricle" "" "" "" "" "" "" "" "" "" "" "" "0000352933" "05611" "00467780" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000289395" "00288226" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblast" "WES" "0000293285" "00292117" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000469446" "00467780" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000289395" "SARS2" ## 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 = 39 "{{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}}" "0000096341" "3" "90" "19" "39406677" "39406677" "subst" "4.07887E-6" "01597" "SARS2_000001" "g.39406677C>T" "" "" "" "" "affects splicing" "Germline" "" "" "0" "" "" "g.38916037C>T" "" "pathogenic" "" "0000249247" "0" "10" "19" "39408360" "39408360" "subst" "0.708911" "02325" "SARS2_000003" "g.39408360A>G" "" "" "" "SARS2(NM_001145901.2):c.1166+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38917720A>G" "" "benign" "" "0000249248" "0" "10" "19" "39421388" "39421388" "subst" "0.713825" "02325" "MRPS12_000001" "g.39421388A>G" "" "" "" "MRPS12(NM_033362.4):c.-270A>G, SARS2(NM_001145901.2):c.-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38930748A>G" "" "benign" "" "0000326468" "0" "30" "19" "39410794" "39410794" "subst" "0.00201077" "01804" "SARS2_000004" "g.39410794A>T" "" "" "" "SARS2(NM_001145901.1):c.596-5T>A (p.?), SARS2(NM_017827.4):c.590-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38920154A>T" "" "likely benign" "" "0000567289" "0" "50" "19" "39401568" "39401568" "subst" "0" "01943" "NFKBIB_000001" "g.39401568C>A" "" "" "" "CCER2(NM_001243212.1):c.346G>T (p.E116*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38910928C>A" "" "VUS" "" "0000567290" "0" "30" "19" "39401701" "39401701" "subst" "0.000226615" "01943" "NFKBIB_000002" "g.39401701G>A" "" "" "" "CCER2(NM_001243212.1):c.213C>T (p.H71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38911061G>A" "" "likely benign" "" "0000623998" "0" "50" "19" "39401286" "39401286" "subst" "0" "01943" "NFKBIB_000003" "g.39401286C>T" "" "" "" "CCER2(NM_001243212.1):c.628G>A (p.E210K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38910646C>T" "" "VUS" "" "0000645324" "11" "70" "19" "39406677" "39406677" "subst" "4.07887E-6" "00006" "SARS2_000001" "g.39406677C>T" "" "{PMID:Lee 2019:31607746}" "" "NM_001145901.1:c.1353G>A" "Intron retention" "Germline" "" "" "0" "" "" "g.38916037C>T" "{CV:000930576.1}" "likely pathogenic (recessive)" "" "0000645335" "21" "70" "19" "39408469" "39408469" "subst" "0" "00006" "SARS2_000006" "g.39408469T>G" "" "{PMID:Lee 2019:31607746}" "" "NM_001145901.1:c.1061A>C" "" "Germline" "" "" "0" "" "" "g.38917829T>G" "{CV:000930577.1}" "likely pathogenic (recessive)" "" "0000649974" "1" "50" "19" "39416856" "39416856" "subst" "0.000324565" "03575" "SARS2_000007" "g.39416856G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs147412052}" "Germline" "" "rs147412052" "0" "" "" "g.38926216G>A" "" "VUS" "" "0000681406" "0" "30" "19" "39406271" "39406279" "dup" "0" "01943" "SARS2_000008" "g.39406271_39406279dup" "" "" "" "SARS2(NM_001145901.1):c.1536_1544dupGCTGCCTGG (p.L513_G515dup), SARS2(NM_017827.4):c.1530_1538dupGCTGCCTGG (p.L511_G513dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727360" "0" "30" "19" "39406300" "39406300" "subst" "2.0388E-5" "02326" "SARS2_000009" "g.39406300G>A" "" "" "" "SARS2(NM_001145901.2):c.1509C>T (p.I503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727361" "0" "70" "19" "39406700" "39406700" "del" "0" "02329" "SARS2_000002" "g.39406700del" "" "" "" "SARS2(NM_001145901.2):c.1333delG (p.E445Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000808857" "0" "50" "19" "39406941" "39406941" "subst" "0" "01943" "SARS2_000010" "g.39406941G>A" "" "" "" "SARS2(NM_001145901.1):c.1180C>T (p.P394S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808858" "0" "30" "19" "39412216" "39412216" "subst" "3.65845E-5" "01943" "SARS2_000011" "g.39412216T>C" "" "" "" "SARS2(NM_001145901.1):c.491A>G (p.Q164R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808859" "0" "30" "19" "39412664" "39412664" "subst" "0.000385772" "01943" "SARS2_000012" "g.39412664G>A" "" "" "" "SARS2(NM_001145901.1):c.448C>T (p.P150S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855578" "0" "10" "19" "39406709" "39406709" "subst" "0.000781326" "02326" "SARS2_000013" "g.39406709T>A" "" "" "" "SARS2(NM_017827.4):c.1315A>T (p.T439S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855579" "0" "50" "19" "39409420" "39409420" "subst" "0" "01943" "SARS2_000014" "g.39409420G>A" "" "" "" "SARS2(NM_001145901.1):c.799C>T (p.R267C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855580" "0" "30" "19" "39412914" "39412914" "subst" "0.000678151" "02326" "SARS2_000015" "g.39412914G>T" "" "" "" "SARS2(NM_017827.4):c.364-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855581" "0" "30" "19" "39412921" "39412921" "subst" "0.000998944" "02326" "SARS2_000016" "g.39412921G>A" "" "" "" "SARS2(NM_017827.4):c.364-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855582" "0" "50" "19" "39421241" "39421241" "subst" "0.000199014" "01943" "MRPS12_000003" "g.39421241C>T" "" "" "" "SARS2(NM_001145901.1):c.136G>A (p.E46K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866118" "0" "10" "19" "39406271" "39406279" "dup" "0" "02326" "SARS2_000008" "g.39406271_39406279dup" "" "" "" "SARS2(NM_001145901.1):c.1536_1544dupGCTGCCTGG (p.L513_G515dup), SARS2(NM_017827.4):c.1530_1538dupGCTGCCTGG (p.L511_G513dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894978" "0" "30" "19" "39410794" "39410794" "subst" "0.00201077" "02326" "SARS2_000004" "g.39410794A>T" "" "" "" "SARS2(NM_001145901.1):c.596-5T>A (p.?), SARS2(NM_017827.4):c.590-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894979" "0" "30" "19" "39416935" "39416935" "subst" "0.00198273" "02326" "MRPS12_000004" "g.39416935C>T" "" "" "" "SARS2(NM_017827.4):c.273G>A (p.S91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915223" "0" "30" "19" "39412200" "39412200" "subst" "0.000630327" "02326" "SARS2_000017" "g.39412200C>T" "" "" "" "SARS2(NM_017827.4):c.501G>A (p.A167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915224" "0" "30" "19" "39421331" "39421331" "subst" "0" "02326" "MRPS12_000005" "g.39421331G>A" "" "" "" "SARS2(NM_017827.4):c.46C>T (p.R16W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926885" "0" "30" "19" "39412170" "39412170" "subst" "0.000931447" "02326" "SARS2_000018" "g.39412170G>A" "" "" "" "SARS2(NM_017827.4):c.531C>T (p.D177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931057" "0" "30" "19" "39416898" "39416898" "subst" "0.00130635" "02326" "MRPS12_000006" "g.39416898G>A" "" "" "" "SARS2(NM_017827.4):c.310C>T (p.R104W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951293" "0" "30" "19" "39412881" "39412881" "subst" "0.000706547" "02326" "SARS2_000019" "g.39412881C>T" "" "" "" "SARS2(NM_017827.4):c.390G>A (p.Q130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983453" "0" "50" "19" "39406753" "39406753" "subst" "0" "01804" "SARS2_000020" "g.39406753T>C" "" "" "" "SARS2(NM_017827.4):c.1271A>G (p.(Asn424Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027222" "0" "50" "19" "39408377" "39408377" "subst" "0.000316911" "02325" "SARS2_000021" "g.39408377C>T" "" "" "" "SARS2(NM_017827.4):c.1147G>A (p.G383S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042937" "0" "50" "19" "39406750" "39406750" "subst" "0" "01804" "SARS2_000022" "g.39406750C>T" "" "" "" "SARS2(NM_017827.4):c.1274G>A (p.(Cys425Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042938" "0" "70" "19" "39410778" "39410778" "subst" "0" "01804" "SARS2_000023" "g.39410778G>A" "" "" "" "SARS2(NM_017827.4):c.601C>T (p.(Gln201*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042939" "0" "30" "19" "39412023" "39412023" "subst" "3.69728E-5" "01804" "SARS2_000024" "g.39412023G>A" "" "" "" "SARS2(NM_017827.4):c.589+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042940" "0" "30" "19" "39416947" "39416947" "subst" "8.42212E-6" "01804" "MRPS12_000007" "g.39416947T>G" "" "" "" "SARS2(NM_017827.4):c.268-7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049744" "3" "50" "19" "39408569" "39408569" "subst" "0" "00006" "SARS2_000026" "g.39408569A>G" "" "{PMID:Charng 2016:27435318}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.38917929A>G" "" "VUS" "" "0001056655" "0" "50" "19" "39406392" "39406392" "subst" "8.17595E-6" "01804" "SARS2_000025" "g.39406392G>A" "" "" "" "SARS2(NM_017827.4):c.1414-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056656" "0" "50" "19" "39412041" "39412044" "dup" "0" "01804" "SARS2_000027" "g.39412041_39412044dup" "" "" "" "SARS2(NM_017827.4):c.577_580dup (p.(Asp194Glyfs*78))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067195" "0" "50" "19" "39406773" "39406773" "subst" "3.25659E-5" "01804" "SARS2_000028" "g.39406773G>A" "" "" "" "SARS2(NM_017827.4):c.1255-4C>T" "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 SARS2 ## 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}}" "0000096341" "00024126" "90" "1353" "0" "1353" "0" "c.1353G>A" "r.spl" "p.(Thr451=)" "15" "0000096341" "00018414" "90" "1347" "0" "1347" "0" "c.1347G>A" "r.spl" "p.(Thr449=)" "14" "0000249247" "00024126" "10" "1166" "4" "1166" "4" "c.1166+4T>C" "r.spl?" "p.?" "" "0000249247" "00018414" "10" "1160" "4" "1160" "4" "c.1160+4T>C" "r.spl?" "p.?" "" "0000249248" "00024126" "10" "-12" "0" "-12" "0" "c.-12T>C" "r.(?)" "p.(=)" "" "0000249248" "00018414" "10" "-12" "0" "-12" "0" "c.-12T>C" "r.(?)" "p.(=)" "" "0000326468" "00024126" "30" "596" "-5" "596" "-5" "c.596-5T>A" "r.spl?" "p.?" "" "0000326468" "00018414" "30" "590" "-5" "590" "-5" "c.590-5T>A" "r.spl?" "p.?" "" "0000567289" "00024126" "50" "6241" "0" "6241" "0" "c.*4678G>T" "r.(=)" "p.(=)" "" "0000567289" "00018414" "50" "6235" "0" "6235" "0" "c.*4678G>T" "r.(=)" "p.(=)" "" "0000567290" "00024126" "30" "6108" "0" "6108" "0" "c.*4545C>T" "r.(=)" "p.(=)" "" "0000567290" "00018414" "30" "6102" "0" "6102" "0" "c.*4545C>T" "r.(=)" "p.(=)" "" "0000623998" "00024126" "50" "6523" "0" "6523" "0" "c.*4960G>A" "r.(=)" "p.(=)" "" "0000623998" "00018414" "50" "6517" "0" "6517" "0" "c.*4960G>A" "r.(=)" "p.(=)" "" "0000645324" "00018414" "70" "1347" "0" "1347" "0" "c.1347G>A" "r.(ins?)" "p.(Thr449=)" "" "0000645335" "00018414" "70" "1055" "0" "1055" "0" "c.1055A>C" "r.1055a>c" "p.(Glu352Ala)" "" "0000649974" "00024126" "50" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Arg118Trp)" "" "0000649974" "00018414" "50" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Arg118Trp)" "" "0000681406" "00024126" "30" "1536" "0" "1544" "0" "c.1536_1544dup" "r.(?)" "p.(Leu513_Gly515dup)" "" "0000681406" "00018414" "30" "1530" "0" "1538" "0" "c.1530_1538dup" "r.(?)" "p.(Leu511_Gly513dup)" "" "0000727360" "00024126" "30" "1509" "0" "1509" "0" "c.1509C>T" "r.(?)" "p.(Ile503=)" "" "0000727360" "00018414" "30" "1503" "0" "1503" "0" "c.1503C>T" "r.(?)" "p.(Ile501=)" "" "0000727361" "00024126" "70" "1333" "0" "1333" "0" "c.1333del" "r.(?)" "p.(Glu445SerfsTer8)" "" "0000727361" "00018414" "70" "1327" "0" "1327" "0" "c.1327del" "r.(?)" "p.(Glu443SerfsTer8)" "" "0000808857" "00024126" "50" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Pro394Ser)" "" "0000808857" "00018414" "50" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "" "0000808858" "00024126" "30" "491" "0" "491" "0" "c.491A>G" "r.(?)" "p.(Gln164Arg)" "" "0000808858" "00018414" "30" "485" "0" "485" "0" "c.485A>G" "r.(?)" "p.(Gln162Arg)" "" "0000808859" "00024126" "30" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Pro150Ser)" "" "0000808859" "00018414" "30" "393" "214" "393" "214" "c.393+214C>T" "r.(=)" "p.(=)" "" "0000855578" "00024126" "10" "1321" "0" "1321" "0" "c.1321A>T" "r.(?)" "p.(Thr441Ser)" "" "0000855578" "00018414" "10" "1315" "0" "1315" "0" "c.1315A>T" "r.(?)" "p.(Thr439Ser)" "" "0000855579" "00024126" "50" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267Cys)" "" "0000855579" "00018414" "50" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "" "0000855580" "00024126" "30" "364" "-7" "364" "-7" "c.364-7C>A" "r.(=)" "p.(=)" "" "0000855580" "00018414" "30" "364" "-7" "364" "-7" "c.364-7C>A" "r.(=)" "p.(=)" "" "0000855581" "00024126" "30" "364" "-14" "364" "-14" "c.364-14C>T" "r.(=)" "p.(=)" "" "0000855581" "00018414" "30" "364" "-14" "364" "-14" "c.364-14C>T" "r.(=)" "p.(=)" "" "0000855582" "00024126" "50" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Glu46Lys)" "" "0000855582" "00018414" "50" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Glu46Lys)" "" "0000866118" "00024126" "10" "1536" "0" "1544" "0" "c.1536_1544dup" "r.(?)" "p.(Leu513_Gly515dup)" "" "0000866118" "00018414" "10" "1530" "0" "1538" "0" "c.1530_1538dup" "r.(?)" "p.(Leu511_Gly513dup)" "" "0000894978" "00024126" "30" "596" "-5" "596" "-5" "c.596-5T>A" "r.spl?" "p.?" "" "0000894978" "00018414" "30" "590" "-5" "590" "-5" "c.590-5T>A" "r.spl?" "p.?" "" "0000894979" "00024126" "30" "273" "0" "273" "0" "c.273G>A" "r.(?)" "p.(Ser91=)" "" "0000894979" "00018414" "30" "273" "0" "273" "0" "c.273G>A" "r.(?)" "p.(Ser91=)" "" "0000915223" "00024126" "30" "507" "0" "507" "0" "c.507G>A" "r.(?)" "p.(Ala169=)" "" "0000915223" "00018414" "30" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(Ala167=)" "" "0000915224" "00024126" "30" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16Trp)" "" "0000915224" "00018414" "30" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16Trp)" "" "0000926885" "00024126" "30" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.(Asp179=)" "" "0000926885" "00018414" "30" "531" "0" "531" "0" "c.531C>T" "r.(?)" "p.(Asp177=)" "" "0000931057" "00024126" "30" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Trp)" "" "0000931057" "00018414" "30" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Trp)" "" "0000951293" "00024126" "30" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(=)" "" "0000951293" "00018414" "30" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(=)" "" "0000983453" "00024126" "50" "1277" "0" "1277" "0" "c.1277A>G" "r.(?)" "p.(Asn426Ser)" "" "0000983453" "00018414" "50" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Asn424Ser)" "" "0001027222" "00024126" "50" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Gly385Ser)" "" "0001027222" "00018414" "50" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Gly383Ser)" "" "0001042937" "00024126" "50" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Cys427Tyr)" "" "0001042937" "00018414" "50" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Cys425Tyr)" "" "0001042938" "00024126" "70" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Gln203*)" "" "0001042938" "00018414" "70" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Gln201*)" "" "0001042939" "00024126" "30" "595" "9" "595" "9" "c.595+9C>T" "r.(=)" "p.(=)" "" "0001042939" "00018414" "30" "589" "9" "589" "9" "c.589+9C>T" "r.(=)" "p.(=)" "" "0001042940" "00024126" "30" "268" "-7" "268" "-7" "c.268-7A>C" "r.(=)" "p.(=)" "" "0001042940" "00018414" "30" "268" "-7" "268" "-7" "c.268-7A>C" "r.(=)" "p.(=)" "" "0001049744" "00018414" "50" "1048" "0" "1048" "0" "c.1048T>C" "r.(?)" "p.(Phe350Leu)" "" "0001056655" "00024126" "50" "1420" "-3" "1420" "-3" "c.1420-3C>T" "r.spl?" "p.?" "" "0001056655" "00018414" "50" "1414" "-3" "1414" "-3" "c.1414-3C>T" "r.spl?" "p.?" "" "0001056656" "00024126" "50" "583" "0" "586" "0" "c.583_586dup" "r.(?)" "p.(Asp196Glyfs*78)" "" "0001056656" "00018414" "50" "577" "0" "580" "0" "c.577_580dup" "r.(?)" "p.(Asp194Glyfs*78)" "" "0001067195" "00024126" "50" "1261" "-4" "1261" "-4" "c.1261-4C>T" "r.spl?" "p.?" "" "0001067195" "00018414" "50" "1255" "-4" "1255" "-4" "c.1255-4C>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000289395" "0000645324" "0000289395" "0000645335" "0000293285" "0000649974" "0000469446" "0001049744"