### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCARF2) # 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}}" "SCARF2" "scavenger receptor class F, member 2" "22" "q11.21" "unknown" "NG_031868.2" "UD_134408566101" "" "https://www.LOVD.nl/SCARF2" "" "1" "19869" "91179" "613619" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SCARF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-01 11:56:01" "00000" "2025-05-05 21:14:00" ## 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}}" "00025674" "SCARF2" "transcript variant 2" "001" "NM_182895.2" "" "NP_878315.1" "" "" "" "-105" "3389" "2598" "20792146" "20778874" "00006" "2022-01-01 11:44:40" "" "" ## 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" "00754" "VDEGS" "Van den Ende-Gupta syndrome" "AR" "600920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SCARF2" "00754" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00050438" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050514" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050542" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050613" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00293066" "" "" "" "49" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304889" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331559" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "16DG0264" "00331560" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2M)" "M" "yes" "" "" "0" "" "" "Arab" "12DG2443 , 12DG1233" "00331561" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "13DG0602" "00373728" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "" "Chinese" "iw225" "00398127" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat66" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00050438" "00198" "00050514" "00198" "00050542" "00198" "00050613" "00198" "00293066" "00198" "00304889" "00198" "00331559" "05517" "00331560" "05517" "00331561" "05517" "00373728" "00754" "00398127" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00754, 05517 ## Count = 9 "{{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}}" "0000037050" "00198" "00050438" "00006" "Unknown" "" "sparse scalp hair, fragile nails, abnormality of limb bone morphology, alopecia of scalp, high palate, global developmental delay, global developmental delay, abnormality of the heart" "" "" "" "" "" "" "" "" "" "" "" "0000037126" "00198" "00050514" "00006" "Isolated (sporadic)" "" "agenesis of corpus callosum, periventricular gray matter heterotopia, seizures, frontal bossing, eczema" "" "" "" "" "" "" "" "" "" "" "" "0000037154" "00198" "00050542" "00006" "Isolated (sporadic)" "" "abnormality of the nervous system, dysphagia, abnormality of the palpebral fissures, inverted nipples, redundant skin, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037225" "00198" "00050613" "00006" "Isolated (sporadic)" "" "specific learning disability, congenital hypothyroidism, abnormality of metabolism/homeostasis, rhabdomyolysis, cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000249751" "05517" "00331559" "00000" "Familial, autosomal recessive" "" "Hypospadias, Downslanted palpebral fissures, Frontal bossing, Epicanthus, Long philtrum,No" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000249752" "05517" "00331560" "00000" "Familial, autosomal recessive" "" "Craniosynostosis" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000249753" "05517" "00331561" "00000" "Familial, autosomal recessive" "" "Blepharophimosis, Malar flattening, Narrow nose, Everted lower lip vermilion, High palateNo" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000268952" "00754" "00373728" "01864" "Familial, autosomal recessive" "" "HP:0000256; HP:0001249; HP:0002353; HP:0006956; HP:0012704; HP:0008749; HP:0007082; HP:0001263; HP:0001270; HP:0001945" "" "" "" "" "" "" "" "" "Van den Ende-Gupta syndrome (OMIM 600920)" "" "" "0000291237" "00198" "00398127" "00006" "Unknown" "0y" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050383" "00050438" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050459" "00050514" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050487" "00050542" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050558" "00050613" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000294234" "00293066" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306018" "00304889" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332778" "00331559" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332779" "00331560" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332780" "00331561" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374961" "00373728" "1" "01864" "01864" "2021-05-19 10:17:33" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000399370" "00398127" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "arraySNP" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000332778" "SCARF2" "0000332779" "SCARF2" "0000332780" "SCARF2" "0000374961" "SCARF2" "0000399370" "SCARF2" ## 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 = 74 "{{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}}" "0000079363" "0" "90" "22" "18889039" "21464119" "del" "0" "00006" "ARVCF_000002" "g.18889039_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079439" "0" "90" "22" "18839287" "21830562" "dup" "0" "00006" "ARVCF_000005" "g.18839287_21830562dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079467" "0" "90" "22" "19023163" "21464119" "del" "0" "00006" "ARVCF_000004" "g.19023163_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000079538" "0" "90" "22" "18893563" "21464119" "del" "0" "00006" "ARVCF_000003" "g.18893563_21464119del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000297911" "0" "10" "22" "20780097" "20780097" "subst" "0.99996" "02325" "SCARF2_000012" "g.20780097G>C" "" "" "" "SCARF2(NM_153334.7):c.2181C>G (p.R727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425810=" "" "benign" "" "0000297912" "0" "10" "22" "20780091" "20780091" "subst" "0.999864" "02325" "SCARF2_000011" "g.20780091C>G" "" "" "" "SCARF2(NM_153334.7):c.2187G>C (p.P729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000297913" "0" "10" "22" "20780031" "20780031" "delins" "0" "02325" "SCARF2_000008" "g.20780031delinsCC" "" "" "" "SCARF2(NM_153334.7):c.2247delCinsGG (p.R751Pfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425745dup" "" "benign" "" "0000297914" "0" "10" "22" "20779975" "20779975" "dup" "0" "02325" "SCARF2_000005" "g.20779975dup" "" "" "" "SCARF2(NM_153334.7):c.2303dupC (p.P769Afs*10), SCARF2(NM_153334.7):c.2307dupC (p.E770Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425683dup" "" "benign" "" "0000297915" "0" "10" "22" "20779947" "20779947" "subst" "1" "02325" "SCARF2_000004" "g.20779947G>C" "" "" "" "SCARF2(NM_153334.7):c.2331C>G (p.A777=), SCARF2(NM_153334.7):c.2334C>G (p.D778E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425657=" "" "benign" "" "0000297916" "0" "10" "22" "20779946" "20779946" "subst" "1" "02325" "SCARF2_000003" "g.20779946C>G" "" "" "" "SCARF2(NM_153334.7):c.2332G>C (p.E778Q), SCARF2(NM_153334.7):c.2335G>C (p.V779L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000297917" "0" "10" "22" "20779822" "20779822" "subst" "0.301571" "02325" "SCARF2_000002" "g.20779822G>C" "" "" "" "SCARF2(NM_153334.7):c.2456C>G (p.P819R), SCARF2(NM_153334.7):c.2459C>G (p.A820G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425532G>C" "" "benign" "" "0000299336" "0" "10" "22" "20784050" "20784050" "subst" "0.154473" "02329" "SCARF2_000018" "g.20784050T>A" "" "" "" "SCARF2(NM_153334.7):c.1273A>T (p.T425S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20429763T>A" "" "benign" "" "0000299337" "0" "30" "22" "20781732" "20781732" "subst" "0.00273799" "02329" "SCARF2_000017" "g.20781732G>A" "" "" "" "SCARF2(NM_153334.6):c.1661C>T (p.S554L), SCARF2(NM_153334.7):c.1661C>T (p.S554L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20427445G>A" "" "likely benign" "" "0000299338" "0" "10" "22" "20781670" "20781670" "subst" "0.145087" "02329" "SCARF2_000016" "g.20781670T>C" "" "" "" "SCARF2(NM_153334.7):c.1708+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20427383T>C" "" "benign" "" "0000299339" "0" "10" "22" "20780296" "20780296" "subst" "0.0237636" "02329" "SCARF2_000014" "g.20780296G>A" "" "" "" "SCARF2(NM_153334.7):c.1982C>T (p.P661L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20426009G>A" "" "benign" "" "0000299340" "0" "30" "22" "20780140" "20780140" "subst" "0" "02329" "SCARF2_000013" "g.20780140G>T" "" "" "" "SCARF2(NM_153334.7):c.2138C>A (p.T713K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425853G>T" "" "likely benign" "" "0000299341" "0" "10" "22" "20780097" "20780097" "subst" "0.99996" "02329" "SCARF2_000012" "g.20780097G>C" "" "" "" "SCARF2(NM_153334.7):c.2181C>G (p.R727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425810=" "" "benign" "" "0000299342" "0" "10" "22" "20780091" "20780091" "subst" "0.999864" "02329" "SCARF2_000011" "g.20780091C>G" "" "" "" "SCARF2(NM_153334.7):c.2187G>C (p.P729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000299343" "0" "10" "22" "20780079" "20780079" "subst" "0.0043517" "02329" "SCARF2_000010" "g.20780079C>T" "" "" "" "SCARF2(NM_153334.7):c.2199G>A (p.E733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425792C>T" "" "benign" "" "0000299344" "0" "30" "22" "20780031" "20780031" "subst" "0.941176" "02329" "SCARF2_000009" "g.20780031G>C" "" "" "" "SCARF2(NM_153334.6):c.2247C>G (p.R749=), SCARF2(NM_153334.7):c.2247C>G (p.R749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425744=" "" "likely benign" "" "0000299347" "0" "10" "22" "20779947" "20779947" "subst" "1" "02329" "SCARF2_000004" "g.20779947G>C" "" "" "" "SCARF2(NM_153334.7):c.2331C>G (p.A777=), SCARF2(NM_153334.7):c.2334C>G (p.D778E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425657=" "" "benign" "" "0000299348" "0" "10" "22" "20779946" "20779946" "subst" "1" "02329" "SCARF2_000003" "g.20779946C>G" "" "" "" "SCARF2(NM_153334.7):c.2332G>C (p.E778Q), SCARF2(NM_153334.7):c.2335G>C (p.V779L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000299349" "0" "10" "22" "20779822" "20779822" "subst" "0.301571" "02329" "SCARF2_000002" "g.20779822G>C" "" "" "" "SCARF2(NM_153334.7):c.2456C>G (p.P819R), SCARF2(NM_153334.7):c.2459C>G (p.A820G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425532G>C" "" "benign" "" "0000299350" "0" "50" "22" "20779744" "20779744" "subst" "0.00107974" "02329" "SCARF2_000001" "g.20779744G>A" "" "" "" "SCARF2(NM_153334.7):c.2537C>T (p.T846I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425454G>A" "" "VUS" "" "0000299351" "0" "10" "22" "20785639" "20785639" "subst" "0.157989" "02329" "SCARF2_000019" "g.20785639G>A" "" "" "" "SCARF2(NM_153334.7):c.520C>T (p.P174S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20431352G>A" "" "benign" "" "0000301659" "0" "30" "22" "20780296" "20780296" "subst" "0.0237636" "02326" "SCARF2_000014" "g.20780296G>A" "" "" "" "SCARF2(NM_153334.7):c.1982C>T (p.P661L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20426009G>A" "" "likely benign" "" "0000301660" "0" "10" "22" "20780031" "20780031" "subst" "0.941176" "02326" "SCARF2_000009" "g.20780031G>C" "" "" "" "SCARF2(NM_153334.6):c.2247C>G (p.R749=), SCARF2(NM_153334.7):c.2247C>G (p.R749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425744=" "" "benign" "" "0000307727" "0" "30" "22" "20780475" "20780475" "subst" "0" "01943" "SCARF2_000015" "g.20780475G>A" "" "" "" "SCARF2(NM_153334.6):c.1803C>T (p.A601=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20426188G>A" "" "likely benign" "" "0000307728" "0" "30" "22" "20780031" "20780031" "subst" "0.941176" "01943" "SCARF2_000009" "g.20780031G>C" "" "" "" "SCARF2(NM_153334.6):c.2247C>G (p.R749=), SCARF2(NM_153334.7):c.2247C>G (p.R749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425744=" "" "likely benign" "" "0000307729" "0" "30" "22" "20786126" "20786126" "subst" "0.00107087" "01943" "SCARF2_000020" "g.20786126G>A" "" "" "" "SCARF2(NM_153334.6):c.240C>T (p.C80=), SCARF2(NM_153334.7):c.240C>T (p.C80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20431839G>A" "" "likely benign" "" "0000337469" "0" "30" "22" "20779604" "20779604" "subst" "0" "02327" "SCARF2_000021" "g.20779604T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425314T>G" "" "likely benign" "" "0000339631" "0" "10" "22" "20780091" "20780091" "subst" "0.999864" "02327" "SCARF2_000011" "g.20780091C>G" "" "" "" "SCARF2(NM_153334.7):c.2187G>C (p.P729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000339632" "0" "10" "22" "20780097" "20780097" "subst" "0.99996" "02327" "SCARF2_000012" "g.20780097G>C" "" "" "" "SCARF2(NM_153334.7):c.2181C>G (p.R727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425810=" "" "benign" "" "0000341601" "0" "10" "22" "20779822" "20779822" "subst" "0.301571" "02327" "SCARF2_000002" "g.20779822G>C" "" "" "" "SCARF2(NM_153334.7):c.2456C>G (p.P819R), SCARF2(NM_153334.7):c.2459C>G (p.A820G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20425532G>C" "" "benign" "" "0000348546" "0" "10" "22" "20780296" "20780296" "subst" "0.0237636" "02327" "SCARF2_000014" "g.20780296G>A" "" "" "" "SCARF2(NM_153334.7):c.1982C>T (p.P661L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20426009G>A" "" "benign" "" "0000571422" "0" "50" "22" "20779708" "20779708" "subst" "0.000114643" "02326" "SCARF2_000022" "g.20779708T>C" "" "" "" "SCARF2(NM_153334.7):c.2573A>G (p.E858G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20425418T>C" "" "VUS" "" "0000571423" "0" "10" "22" "20779768" "20779768" "subst" "0.549168" "02325" "SCARF2_000023" "g.20779768G>C" "" "" "" "SCARF2(NM_153334.7):c.2510C>G (p.P837R), SCARF2(NM_153334.7):c.2513C>G (p.A838G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20425478G>C" "" "benign" "" "0000571424" "0" "10" "22" "20779768" "20779768" "subst" "0.549168" "02329" "SCARF2_000023" "g.20779768G>C" "" "" "" "SCARF2(NM_153334.7):c.2510C>G (p.P837R), SCARF2(NM_153334.7):c.2513C>G (p.A838G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20425478G>C" "" "benign" "" "0000571425" "0" "30" "22" "20779975" "20779975" "dup" "0" "02329" "SCARF2_000005" "g.20779975dup" "" "" "" "SCARF2(NM_153334.7):c.2303dupC (p.P769Afs*10), SCARF2(NM_153334.7):c.2307dupC (p.E770Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20425683dup" "" "likely benign" "" "0000571426" "0" "30" "22" "20780025" "20780025" "dup" "0" "02329" "SCARF2_000024" "g.20780025dup" "" "" "" "SCARF2(NM_153334.7):c.2252dupG (p.G752Rfs*27), SCARF2(NM_153334.7):c.2255dupG (p.G754Rfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20425737dup" "" "likely benign" "" "0000571427" "0" "10" "22" "20780025" "20780025" "dup" "0" "02325" "SCARF2_000024" "g.20780025dup" "" "" "" "SCARF2(NM_153334.7):c.2252dupG (p.G752Rfs*27), SCARF2(NM_153334.7):c.2255dupG (p.G754Rfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20425737dup" "" "benign" "" "0000571428" "0" "30" "22" "20780030" "20780030" "dup" "0" "02329" "SCARF2_000025" "g.20780030dup" "" "" "" "SCARF2(NM_153334.7):c.2249dupG (p.R751Pfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000571430" "0" "30" "22" "20783663" "20783673" "del" "0" "02326" "SCARF2_000026" "g.20783663_20783673del" "" "" "" "SCARF2(NM_153334.6):c.1425-20_1425-10delGGCCCCGCCCC, SCARF2(NM_153334.7):c.1425-20_1425-10delGGCCCCGCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20429376_20429386del" "" "likely benign" "" "0000571431" "0" "30" "22" "20786263" "20786263" "subst" "2.56178E-5" "02326" "SCARF2_000027" "g.20786263G>C" "" "" "" "SCARF2(NM_153334.7):c.186C>G (p.P62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20431976G>C" "" "likely benign" "" "0000618473" "0" "30" "22" "20785564" "20785564" "subst" "0" "01804" "SCARF2_000028" "g.20785564C>A" "" "" "" "SCARF2(NM_153334.4):c.595G>T (p.(Ala199Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20431277C>A" "" "likely benign" "" "0000650923" "1" "30" "22" "20780296" "20780296" "subst" "0.0237636" "03575" "SCARF2_000014" "g.20780296G>A" "49/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "49 heterozygous; {DB:CLININrs9680797}" "Germline" "" "rs9680797" "0" "" "" "g.20426009G>A" "" "likely benign" "" "0000658883" "0" "30" "22" "20784093" "20784093" "subst" "0" "01943" "SCARF2_000029" "g.20784093G>C" "" "" "" "SCARF2(NM_153334.6):c.1230C>G (p.L410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20429806G>C" "" "likely benign" "" "0000669706" "3" "30" "22" "20780296" "20780296" "subst" "0.0237636" "03575" "SCARF2_000014" "g.20780296G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs9680797}" "Germline" "" "rs9680797" "0" "" "" "g.20426009G>A" "" "likely benign" "" "0000681788" "0" "50" "22" "20779699" "20779699" "subst" "0" "02326" "SCARF2_000030" "g.20779699C>A" "" "" "" "SCARF2(NM_153334.7):c.2582G>T (p.G861V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681789" "0" "50" "22" "20786126" "20786126" "subst" "0.00107087" "02326" "SCARF2_000020" "g.20786126G>A" "" "" "" "SCARF2(NM_153334.6):c.240C>T (p.C80=), SCARF2(NM_153334.7):c.240C>T (p.C80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693110" "0" "30" "22" "20791943" "20791943" "subst" "0" "02326" "KLHL22_000001" "g.20791943C>T" "" "" "" "SCARF2(NM_153334.7):c.99G>A (p.L33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728044" "0" "30" "22" "20783897" "20783897" "subst" "0" "02326" "SCARF2_000032" "g.20783897G>C" "" "" "" "SCARF2(NM_153334.7):c.1350C>G (p.L450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728045" "0" "30" "22" "20783949" "20783949" "subst" "0" "01943" "SCARF2_000033" "g.20783949G>A" "" "" "" "SCARF2(NM_153334.6):c.1307-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728046" "0" "50" "22" "20784109" "20784109" "subst" "8.19014E-6" "02327" "SCARF2_000034" "g.20784109G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730060" "3" "90" "22" "20785689" "20785694" "del" "0" "00000" "SCARF2_000035" "g.20785689_20785694del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_153334.4:c.472_477del:p.(Cys158_Gln159del)" "" "Germline" "" "" "0" "" "" "g.20431402_20431407del" "" "likely pathogenic (recessive)" "" "0000730061" "3" "90" "22" "20786259" "20786259" "subst" "0" "00000" "SCARF2_000036" "g.20786259A>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_153334.4:c.190T>C:p.(Cys64Arg)" "" "Germline" "" "" "0" "" "" "g.20431972A>G" "" "pathogenic (recessive)" "" "0000730062" "3" "90" "22" "20779735" "20779735" "del" "0" "00000" "SCARF2_000031" "g.20779735del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_153334.4:c.2543del:p.(Gln848Argfs*95)" "" "Germline" "" "" "0" "" "" "g.20425445del" "" "pathogenic (recessive)" "" "0000785880" "0" "90" "22" "20785505" "20785505" "subst" "0" "01864" "SCARF2_000038" "g.20785505G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000785881" "0" "90" "22" "20780467" "20780467" "subst" "0" "01864" "SCARF2_000037" "g.20780467G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000809492" "0" "30" "22" "20785129" "20785129" "subst" "2.24099E-5" "02326" "SCARF2_000039" "g.20785129G>A" "" "" "" "SCARF2(NM_153334.7):c.921C>T (p.P307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831731" "0" "90" "22" "20779645" "20792061" "del" "0" "00006" "SCARF2_000040" "g.(?_20779645)_(20792061_?)del" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "arr[hg19] 20779645_20792061x1" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000856061" "0" "50" "22" "20781732" "20781732" "subst" "0.00273799" "01943" "SCARF2_000017" "g.20781732G>A" "" "" "" "SCARF2(NM_153334.6):c.1661C>T (p.S554L), SCARF2(NM_153334.7):c.1661C>T (p.S554L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856062" "0" "30" "22" "20783663" "20783673" "del" "0" "01943" "SCARF2_000026" "g.20783663_20783673del" "" "" "" "SCARF2(NM_153334.6):c.1425-20_1425-10delGGCCCCGCCCC, SCARF2(NM_153334.7):c.1425-20_1425-10delGGCCCCGCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856063" "0" "50" "22" "20785459" "20785459" "subst" "0" "01943" "SCARF2_000041" "g.20785459G>C" "" "" "" "SCARF2(NM_153334.6):c.700C>G (p.R234G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915488" "0" "30" "22" "20780253" "20780253" "subst" "0" "02326" "SCARF2_000042" "g.20780253G>T" "" "" "" "SCARF2(NM_153334.7):c.2025C>A (p.G675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946217" "0" "10" "22" "20779744" "20779744" "subst" "0.00107974" "03779" "SCARF2_000001" "g.20779744G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs537247534" "0" "" "" "" "" "benign" "" "0000951537" "0" "30" "22" "20796597" "20796597" "subst" "0.00137493" "01804" "KLHL22_000002" "g.20796597G>A" "" "" "" "KLHL22(NM_032775.3):c.1668C>T (p.(Arg556=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984111" "0" "50" "22" "20784978" "20784978" "subst" "0" "01804" "SCARF2_000043" "g.20784978G>A" "" "" "" "SCARF2(NM_182895.5):c.1072C>T (p.(Arg358Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984112" "0" "50" "22" "20791959" "20791961" "dup" "0" "01804" "KLHL22_000003" "g.20791959_20791961dup" "" "" "" "SCARF2(NM_182895.5):c.99_101dup (p.(Leu34dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005916" "0" "50" "22" "20780077" "20780077" "subst" "5.54693E-5" "01804" "SCARF2_000044" "g.20780077T>A" "" "" "" "SCARF2(NM_182895.2):c.2186A>T (p.(Glu729Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005917" "0" "50" "22" "20780285" "20780285" "subst" "2.77111E-5" "01804" "SCARF2_000045" "g.20780285C>A" "" "" "" "SCARF2(NM_182895.2):c.1978G>T (p.(Ala660Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005918" "0" "50" "22" "20780356" "20780356" "subst" "0" "01804" "SCARF2_000046" "g.20780356G>A" "" "" "" "SCARF2(NM_182895.2):c.1907C>T (p.(Ala636Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005919" "0" "50" "22" "20780398" "20780398" "subst" "0" "01804" "SCARF2_000047" "g.20780398A>C" "" "" "" "SCARF2(NM_182895.2):c.1865T>G (p.(Leu622Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043723" "0" "50" "22" "20780269" "20780269" "subst" "0" "01804" "SCARF2_000048" "g.20780269A>G" "" "" "" "SCARF2(NM_182895.5):c.1994T>C (p.(Val665Ala))" "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 SCARF2 ## Count = 74 "{{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}}" "0000079363" "00025674" "90" "-672078" "0" "1893224" "0" "c.-672078_*1890626del" "r.0?" "p.0?" "" "0000079439" "00025674" "90" "-1038521" "0" "1942976" "0" "c.-1038521_*1940378dup" "r.0?" "p.0?" "" "0000079467" "00025674" "90" "-672078" "0" "1759100" "0" "c.-672078_*1756502del" "r.0?" "p.0?" "" "0000079538" "00025674" "90" "-672078" "0" "1888700" "0" "c.-672078_*1886102del" "r.0?" "p.0?" "" "0000297911" "00025674" "10" "2166" "0" "2166" "0" "c.2166C>G" "r.(?)" "p.(Arg722=)" "" "0000297912" "00025674" "10" "2172" "0" "2172" "0" "c.2172G>C" "r.(?)" "p.(Pro724=)" "" "0000297913" "00025674" "10" "2232" "0" "2232" "0" "c.2232delinsGG" "r.(?)" "p.(Ala745GlyfsTer28)" "" "0000297914" "00025674" "10" "2289" "0" "2289" "0" "c.2289dup" "r.(?)" "p.(Glu764ArgfsTer9)" "" "0000297915" "00025674" "10" "2316" "0" "2316" "0" "c.2316C>G" "r.(?)" "p.(Asp772Glu)" "" "0000297916" "00025674" "10" "2317" "0" "2317" "0" "c.2317G>C" "r.(?)" "p.(Val773Leu)" "" "0000297917" "00025674" "10" "2441" "0" "2441" "0" "c.2441C>G" "r.(?)" "p.(Ala814Gly)" "" "0000299336" "00025674" "10" "1273" "0" "1273" "0" "c.1273A>T" "r.(?)" "p.(Thr425Ser)" "" "0000299337" "00025674" "30" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Ser549Leu)" "" "0000299338" "00025674" "10" "1693" "15" "1693" "15" "c.1693+15A>G" "r.(=)" "p.(=)" "" "0000299339" "00025674" "10" "1967" "0" "1967" "0" "c.1967C>T" "r.(?)" "p.(Pro656Leu)" "" "0000299340" "00025674" "30" "2123" "0" "2123" "0" "c.2123C>A" "r.(?)" "p.(Thr708Lys)" "" "0000299341" "00025674" "10" "2166" "0" "2166" "0" "c.2166C>G" "r.(?)" "p.(Arg722=)" "" "0000299342" "00025674" "10" "2172" "0" "2172" "0" "c.2172G>C" "r.(?)" "p.(Pro724=)" "" "0000299343" "00025674" "10" "2184" "0" "2184" "0" "c.2184G>A" "r.(?)" "p.(Glu728=)" "" "0000299344" "00025674" "30" "2232" "0" "2232" "0" "c.2232C>G" "r.(?)" "p.(Arg744=)" "" "0000299347" "00025674" "10" "2316" "0" "2316" "0" "c.2316C>G" "r.(?)" "p.(Asp772Glu)" "" "0000299348" "00025674" "10" "2317" "0" "2317" "0" "c.2317G>C" "r.(?)" "p.(Val773Leu)" "" "0000299349" "00025674" "10" "2441" "0" "2441" "0" "c.2441C>G" "r.(?)" "p.(Ala814Gly)" "" "0000299350" "00025674" "50" "2519" "0" "2519" "0" "c.2519C>T" "r.(?)" "p.(Thr840Ile)" "" "0000299351" "00025674" "10" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Pro174Ser)" "" "0000301659" "00025674" "30" "1967" "0" "1967" "0" "c.1967C>T" "r.(?)" "p.(Pro656Leu)" "" "0000301660" "00025674" "10" "2232" "0" "2232" "0" "c.2232C>G" "r.(?)" "p.(Arg744=)" "" "0000307727" "00025674" "30" "1788" "0" "1788" "0" "c.1788C>T" "r.(?)" "p.(Ala596=)" "" "0000307728" "00025674" "30" "2232" "0" "2232" "0" "c.2232C>G" "r.(?)" "p.(Arg744=)" "" "0000307729" "00025674" "30" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Cys80=)" "" "0000337469" "00025674" "30" "2659" "0" "2659" "0" "c.*61A>C" "r.(=)" "p.(=)" "" "0000339631" "00025674" "10" "2172" "0" "2172" "0" "c.2172G>C" "r.(?)" "p.(Pro724=)" "" "0000339632" "00025674" "10" "2166" "0" "2166" "0" "c.2166C>G" "r.(?)" "p.(Arg722=)" "" "0000341601" "00025674" "10" "2441" "0" "2441" "0" "c.2441C>G" "r.(?)" "p.(Ala814Gly)" "" "0000348546" "00025674" "10" "1967" "0" "1967" "0" "c.1967C>T" "r.(?)" "p.(Pro656Leu)" "" "0000571422" "00025674" "50" "2555" "0" "2555" "0" "c.2555A>G" "r.(?)" "p.(Glu852Gly)" "" "0000571423" "00025674" "10" "2495" "0" "2495" "0" "c.2495C>G" "r.(?)" "p.(Ala832Gly)" "" "0000571424" "00025674" "10" "2495" "0" "2495" "0" "c.2495C>G" "r.(?)" "p.(Ala832Gly)" "" "0000571425" "00025674" "30" "2289" "0" "2289" "0" "c.2289dup" "r.(?)" "p.(Glu764ArgfsTer9)" "" "0000571426" "00025674" "30" "2238" "0" "2238" "0" "c.2238dup" "r.(?)" "p.(Pro747AlafsTer26)" "" "0000571427" "00025674" "10" "2238" "0" "2238" "0" "c.2238dup" "r.(?)" "p.(Pro747AlafsTer26)" "" "0000571428" "00025674" "30" "2233" "0" "2233" "0" "c.2233dup" "r.(?)" "p.(Ala745GlyfsTer28)" "" "0000571430" "00025674" "30" "1425" "-35" "1425" "-25" "c.1425-35_1425-25del" "r.(=)" "p.(=)" "" "0000571431" "00025674" "30" "186" "0" "186" "0" "c.186C>G" "r.(?)" "p.(Pro62=)" "" "0000618473" "00025674" "30" "595" "0" "595" "0" "c.595G>T" "r.(?)" "p.(Ala199Ser)" "" "0000650923" "00025674" "30" "1967" "0" "1967" "0" "c.1967C>T" "r.(?)" "p.(Pro656Leu)" "" "0000658883" "00025674" "30" "1230" "0" "1230" "0" "c.1230C>G" "r.(?)" "p.(Leu410=)" "" "0000669706" "00025674" "30" "1967" "0" "1967" "0" "c.1967C>T" "r.(?)" "p.(Pro656Leu)" "" "0000681788" "00025674" "50" "2564" "0" "2564" "0" "c.2564G>T" "r.(?)" "p.(Gly855Val)" "" "0000681789" "00025674" "50" "240" "0" "240" "0" "c.240C>T" "r.(?)" "p.(Cys80=)" "" "0000693110" "00025674" "30" "99" "0" "99" "0" "c.99G>A" "r.(?)" "p.(Leu33=)" "" "0000728044" "00025674" "30" "1350" "0" "1350" "0" "c.1350C>G" "r.(?)" "p.(Leu450=)" "" "0000728045" "00025674" "30" "1307" "-9" "1307" "-9" "c.1307-9C>T" "r.(=)" "p.(=)" "" "0000728046" "00025674" "50" "1214" "0" "1214" "0" "c.1214C>A" "r.(?)" "p.(Thr405Lys)" "" "0000730060" "00025674" "90" "465" "0" "470" "0" "c.465_470del" "r.(?)" "p.(Cys158_Gln159del)" "" "0000730061" "00025674" "90" "190" "0" "190" "0" "c.190T>C" "r.(?)" "p.(Cys64Arg)" "" "0000730062" "00025674" "90" "2528" "0" "2528" "0" "c.2528del" "r.(?)" "p.(Gln843Argfs*95)" "" "0000785880" "00025674" "90" "654" "0" "654" "0" "c.654C>G" "r.(?)" "p.(Asn218Lys)" "" "0000785881" "00025674" "90" "1796" "0" "1796" "0" "c.1796C>T" "r.(?)" "p.(Ala599Val)" "" "0000809492" "00025674" "30" "921" "0" "921" "0" "c.921C>T" "r.(?)" "p.(Pro307=)" "" "0000831731" "00025674" "90" "0" "0" "0" "0" "c.-105_*791{0}" "r.0" "p.0" "_1_11_" "0000856061" "00025674" "50" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Ser549Leu)" "" "0000856062" "00025674" "30" "1425" "-35" "1425" "-25" "c.1425-35_1425-25del" "r.(=)" "p.(=)" "" "0000856063" "00025674" "50" "700" "0" "700" "0" "c.700C>G" "r.(?)" "p.(Arg234Gly)" "" "0000915488" "00025674" "30" "2010" "0" "2010" "0" "c.2010C>A" "r.(?)" "p.(Gly670=)" "" "0000946217" "00025674" "10" "2522" "0" "2522" "0" "c.2522C>T" "r.(?)" "p.(Thr841Ile)" "" "0000951537" "00025674" "30" "-4556" "0" "-4556" "0" "c.-4556C>T" "r.(?)" "p.(=)" "" "0000984111" "00025674" "50" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358Trp)" "" "0000984112" "00025674" "50" "99" "0" "101" "0" "c.99_101dup" "r.(?)" "p.(Leu34dup)" "" "0001005916" "00025674" "50" "2186" "0" "2186" "0" "c.2186A>T" "r.(?)" "p.(Glu729Val)" "" "0001005917" "00025674" "50" "1978" "0" "1978" "0" "c.1978G>T" "r.(?)" "p.(Ala660Ser)" "" "0001005918" "00025674" "50" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Ala636Val)" "" "0001005919" "00025674" "50" "1865" "0" "1865" "0" "c.1865T>G" "r.(?)" "p.(Leu622Arg)" "" "0001043723" "00025674" "50" "1994" "0" "1994" "0" "c.1994T>C" "r.(?)" "p.(Val665Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000050383" "0000079363" "0000050459" "0000079439" "0000050487" "0000079467" "0000050558" "0000079538" "0000294234" "0000650923" "0000306018" "0000669706" "0000332778" "0000730060" "0000332779" "0000730061" "0000332780" "0000730062" "0000374961" "0000785880" "0000374961" "0000785881" "0000399370" "0000831731"