### 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" "2025-05-05 21:14:00" ## 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 = 2 "{{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" ## 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 = 2 "{{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" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00288226" "00198" "00292117" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03461 ## Count = 1 "{{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" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{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" ## 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 = 35 "{{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" "" ## 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 = 68 "{{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.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000289395" "0000645324" "0000289395" "0000645335" "0000293285" "0000649974"