### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SFTPA2) # 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}}" "SFTPA2" "surfactant protein A2" "10" "q22.3" "unknown" "NG_013046.1" "UD_132085247187" "" "https://www.LOVD.nl/SFTPA2" "" "1" "10799" "729238" "178642" "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/SFTPA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "03567" "2020-03-11 11:43:19" "00000" "2024-08-28 13:16:32" ## 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}}" "00018789" "SFTPA2" "surfactant protein A2" "001" "NM_001098668.2" "" "NP_001092138.1" "" "" "" "-97" "2104" "747" "81320163" "81315608" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00639" "cancer, lung" "cancer, lung (adenocarcinoma)" "" "211980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01536" "IPF" "fibrosis, pulmonary, idiopathic (IPF)" "AD" "178500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-02-10 12:49:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SFTPA2" "00639" "SFTPA2" "01536" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00286189" "" "" "" "1" "" "03583" "{PMID:van Moorsel 2015:26568241}" "2-generation family, affected fahter and son" "M" "?" "Netherlands" "67y" "0" "" "" "" "FamFPF5-son" "00286203" "" "" "" "1" "" "03583" "{PMID:Moorsel, 2015:26568241}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00295677" "" "" "" "3" "" "03583" "{PMID:van Moorsel 2015:26568241}" "" "M" "" "Netherlands" "44y" "0" "" "" "" "FamFPF15-proband" "00295678" "" "" "" "3" "" "03583" "{PMID:van Moorsel 2015:26568241}" "" "F" "" "Netherlands" ">53y" "0" "" "" "" "FamFPF15-sister" "00295679" "" "" "" "3" "" "03583" "{PMID:van Moorsel 2015:26568241}" "" "F" "" "Netherlands" "47y" "0" "" "" "" "FamFPF15-cousin" "00295680" "" "" "" "2" "" "03583" "{PMID:van Moorsel 2015:26568241}" "" "F" "" "Netherlands" "" "0" "" "" "" "FamFPF45-proband" "00295681" "" "" "" "2" "" "03583" "{PMID:van Moorsel 2015:26568241}" "" "F" "" "Netherlands" ">23y" "0" "" "" "" "FamFPF45-cousin" "00295682" "" "" "" "1" "" "03583" "" "" "" "" "Netherlands" "71y" "0" "" "" "" "" "00295683" "" "" "" "1" "" "03583" "{PMID:Coghlan 2014:25553246}" "" "" "" "" "" "0" "" "" "" "" "00295684" "" "" "" "8" "" "03583" "{PMID:Wang 2009:19100526}" "" "M" "" "" ">51y" "0" "" "" "" "F27-proband" "00295685" "" "" "" "1" "" "03583" "{PMID:Wang 2009:19100526}" "" "M" "" "" ">49y" "0" "" "" "" "CKG810-proband" "00295686" "" "" "" "8" "" "03583" "{PMID:Wang 2009:19100526}" "" "M" "" "" "41y" "0" "" "" "" "F27- maternal cousin" "00295687" "" "" "" "8" "" "03583" "{PMID:Wang 2009:19100526}" "" "F" "" "" "56y" "0" "" "" "" "F27- maternal cousin" "00295688" "" "" "" "8" "" "03583" "{PMID:Wang 2009:19100526}" "" "F" "" "" ">53y" "0" "" "" "" "F27- maternal cousin" "00295689" "" "" "" "8" "" "03583" "{PMID:Wang 2009:19100526}" "" "F" "" "" ">48y" "0" "" "" "" "F27- maternal cousin" "00295690" "" "" "" "8" "" "03583" "{PMID:Wang 2009:19100526}" "" "M" "" "" "41y" "0" "" "" "" "F27-brother" "00295691" "" "" "" "8" "" "03583" "{PMID:Wang 2009:19100526}" "" "M" "" "" "51y" "0" "" "" "" "" "00295692" "" "" "" "8" "" "03583" "{PMID:Wang 2009:19100526}" "" "M" "" "" "47y" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00286189" "01536" "00286203" "01536" "00295677" "01536" "00295678" "01536" "00295679" "01536" "00295680" "01536" "00295681" "01536" "00295682" "01536" "00295683" "01536" "00295684" "01536" "00295685" "01536" "00295686" "01536" "00295687" "01536" "00295688" "01536" "00295689" "01536" "00295690" "01536" "00295691" "01536" "00295692" "01536" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00639, 01536 ## Count = 18 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000220047" "01536" "00286189" "03583" "Unknown" "65y?" "HP:0002206\r\nHP:0012735\r\nHP:0002875\r\nHP:0025175" "65y" "66y" "" "" "" "" "" "" "IPF" "IPF" "0000220059" "01536" "00286203" "03583" "Unknown" "" "pulmonary fibrosis/interstitial pneumonitis, not necessarily IPF and lung cancer" "" "40y" "" "" "" "" "" "" "" "" "0000223235" "01536" "00295677" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF); lung cancer" "" "43y" "" "" "" "" "" "" "" "" "0000223236" "01536" "00295678" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF)" "" "" "" "" "" "" "" "" "" "" "0000223237" "01536" "00295679" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF); lung cancer" "" "" "" "" "" "" "" "" "" "" "0000223238" "01536" "00295680" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF)" "" "33y" "" "" "" "" "" "" "" "" "0000223239" "01536" "00295681" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF)" "" "21y" "" "" "" "" "" "" "" "" "0000223240" "01536" "00295682" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF)" "" "69y" "" "" "" "" "" "" "" "" "0000223241" "01536" "00295683" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF)" "" "" "" "" "" "" "" "" "" "" "0000223242" "01536" "00295684" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF)" "" "51y" "" "" "" "" "" "" "" "" "0000223243" "01536" "00295685" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF); lung cancer" "" "49y" "" "" "" "" "" "" "" "" "0000223244" "01536" "00295686" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF)" "" "40y" "" "" "" "" "" "" "" "" "0000223245" "01536" "00295687" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF); lung cancer" "" "51y" "" "" "" "" "" "" "" "" "0000223246" "01536" "00295688" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF)" "" "48y" "" "" "" "" "" "" "" "" "0000223247" "01536" "00295689" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF)" "" "29y" "" "" "" "" "" "" "" "" "0000223248" "01536" "00295690" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF); lung cancer" "" "32y" "" "" "" "" "" "" "" "" "0000223249" "01536" "00295691" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF)" "" "51y" "" "" "" "" "" "" "" "" "0000223250" "01536" "00295692" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis (not necessarily IPF); lung cancer" "" "46y" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000287351" "00286189" "1" "03583" "03583" "2020-02-10 10:59:10" "03583" "2020-02-10 11:50:55" "SEQ" "DNA" "" "" "0000287366" "00286203" "1" "03583" "03583" "2020-02-10 14:40:09" "" "" "SEQ" "DNA" "" "" "0000296849" "00295677" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296850" "00295678" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296851" "00295679" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296852" "00295680" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296853" "00295681" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296854" "00295682" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296855" "00295683" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "?" "DNA" "" "" "0000296856" "00295684" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296857" "00295685" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296858" "00295686" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296859" "00295687" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296860" "00295688" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296861" "00295689" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296862" "00295690" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296863" "00295691" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" "0000296864" "00295692" "1" "03583" "00001" "2020-03-24 11:20:14" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000287351" "SFTPA2" "0000287366" "SFTPA2" "0000296849" "SFTPA2" "0000296850" "SFTPA2" "0000296851" "SFTPA2" "0000296852" "SFTPA2" "0000296853" "SFTPA2" "0000296854" "SFTPA2" "0000296855" "SFTPA2" "0000296856" "SFTPA2" "0000296857" "SFTPA2" "0000296858" "SFTPA2" "0000296859" "SFTPA2" "0000296860" "SFTPA2" "0000296861" "SFTPA2" "0000296862" "SFTPA2" "0000296863" "SFTPA2" "0000296864" "SFTPA2" ## 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 = 44 "{{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}}" "0000249146" "0" "10" "10" "81317360" "81317360" "subst" "0.074024" "02325" "SFTPA2_000003" "g.81317360A>G" "" "" "" "SFTPA2(NM_001098668.4):c.371-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79557604A>G" "" "benign" "" "0000298152" "0" "10" "10" "81319423" "81319423" "subst" "0.950543" "02325" "SFTPA2_000010" "g.81319423C>T" "" "" "" "SFTPA2(NM_001098668.4):c.-23-161G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79559667C>T" "" "benign" "" "0000298153" "0" "10" "10" "81319267" "81319267" "subst" "0.71255" "02325" "SFTPA2_000009" "g.81319267C>T" "" "" "" "SFTPA2(NM_001098668.4):c.-23-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79559511C>T" "" "benign" "" "0000298154" "0" "10" "10" "81319214" "81319214" "subst" "0.450167" "02325" "SFTPA2_000008" "g.81319214G>T" "" "" "" "SFTPA2(NM_001098668.4):c.26C>A (p.T9N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79559458G>T" "" "benign" "" "0000298155" "0" "10" "10" "81317045" "81317045" "subst" "0.217268" "02325" "SFTPA2_000001" "g.81317045G>T" "" "" "" "SFTPA2(NM_001098668.4):c.667C>A (p.Q223K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79557289G>T" "" "benign" "" "0000307985" "0" "30" "10" "81319123" "81319123" "subst" "0.000594385" "01943" "SFTPA2_000007" "g.81319123G>A" "" "" "" "SFTPA2(NM_001098668.3):c.117C>T (p.H39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79559367G>A" "" "likely benign" "" "0000307986" "0" "30" "10" "81319075" "81319075" "subst" "0.00104179" "01943" "SFTPA2_000006" "g.81319075G>T" "" "" "" "SFTPA2(NM_001320814.1):c.195C>A (p.G65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79559319G>T" "" "likely benign" "" "0000307987" "0" "10" "10" "81318680" "81318680" "subst" "0.00235951" "01943" "SFTPA2_000005" "g.81318680C>T" "" "" "" "SFTPA2(NM_001098668.3):c.254G>A (p.R85H), SFTPA2(NM_001098668.4):c.254G>A (p.R85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79558924C>T" "" "benign" "" "0000307989" "0" "50" "10" "81317079" "81317079" "subst" "0" "01943" "SFTPA2_000002" "g.81317079C>G" "" "" "" "SFTPA2(NM_001320814.1):c.663G>C (p.W221C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79557323C>G" "" "VUS" "" "0000346339" "0" "50" "10" "81318677" "81318677" "subst" "8.12229E-5" "02327" "SFTPA2_000011" "g.81318677C>T" "" "" "" "SFTPA2(NM_001320814.1):c.287G>A (p.G96E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79558921C>T" "" "VUS" "" "0000541083" "0" "30" "10" "81317022" "81317022" "subst" "1.21823E-5" "01943" "SFTPA2_000012" "g.81317022A>G" "" "" "" "SFTPA2(NM_001320814.1):c.720T>C (p.D240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79557266A>G" "" "likely benign" "" "0000541084" "0" "10" "10" "81317292" "81317292" "subst" "0.279891" "02325" "SFTPA2_000013" "g.81317292G>A" "" "" "" "SFTPA2(NM_001098668.4):c.420C>T (p.S140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79557536G>A" "" "benign" "" "0000541085" "0" "50" "10" "81318650" "81318651" "dup" "0" "01943" "SFTPA2_000014" "g.81318650_81318651dup" "" "" "" "SFTPA2(NM_001098668.3):c.283_284dupGG (p.P96Afs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79558894_79558895dup" "" "VUS" "" "0000541086" "0" "30" "10" "81318748" "81318748" "subst" "0.00171467" "01943" "SFTPA2_000015" "g.81318748C>T" "" "" "" "SFTPA2(NM_001098668.4):c.186G>A (p.P62=), SFTPA2(NM_001320814.1):c.216G>A (p.P72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79558992C>T" "" "likely benign" "" "0000541087" "0" "30" "10" "81319184" "81319184" "subst" "0.000982911" "01943" "SFTPA2_000016" "g.81319184G>A" "" "" "" "SFTPA2(NM_001098668.3):c.56C>T (p.A19V), SFTPA2(NM_001098668.4):c.56C>T (p.A19V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79559428G>A" "" "likely benign" "" "0000612694" "0" "70" "10" "81317079" "81317079" "subst" "0" "02327" "SFTPA2_000002" "g.81317079C>G" "" "" "" "SFTPA2(NM_001320814.1):c.663G>C (p.W221C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79557323C>G" "" "likely pathogenic" "" "0000622436" "0" "50" "10" "81317014" "81317014" "subst" "0" "01943" "SFTPA2_000017" "g.81317014C>A" "" "" "" "SFTPA2(NM_001098668.3):c.698G>T (p.W233L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79557258C>A" "" "VUS" "" "0000622437" "0" "50" "10" "81317810" "81317810" "subst" "0" "01943" "SFTPA2_000018" "g.81317810C>T" "" "" "" "SFTPA2(NM_001320814.1):c.398G>A (p.G133E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79558054C>T" "" "VUS" "" "0000643158" "0" "70" "10" "81317083" "81317083" "subst" "0" "03583" "SFTPA2_000019" "g.81317083T>G" "1/118 patients" "{PMID:van Moorsel 2015:26568241}" "" "" "variant not found in 100 controls" "Germline" "" "" "0" "" "" "g.79557327T>G" "" "likely pathogenic (dominant)" "ACMG" "0000643161" "0" "70" "10" "81317083" "81317083" "subst" "0" "03583" "SFTPA2_000019" "g.81317083T>G" "" "{PMID:Moorsel 2015:26568241}" "" "" "" "Germline" "?" "" "0" "" "" "g.79557327T>G" "" "likely pathogenic" "ACMG" "0000659496" "20" "77" "10" "81317021" "81317021" "subst" "0" "03583" "SFTPA2_000021" "g.81317021C>T" "" "{PMID:van Moorsel 2015:26568241}" "" "" "" "Germline" "" "" "0" "" "" "g.79557265C>T" "" "likely pathogenic" "" "0000659497" "20" "77" "10" "81317021" "81317021" "subst" "0" "03583" "SFTPA2_000021" "g.81317021C>T" "" "{PMID:van Moorsel 2015:26568241}" "" "" "" "Germline" "" "" "0" "" "" "g.79557265C>T" "" "likely pathogenic" "" "0000659498" "20" "77" "10" "81317021" "81317021" "subst" "0" "03583" "SFTPA2_000021" "g.81317021C>T" "" "{PMID:van Moorsel 2015:26568241}" "" "" "" "Germline" "" "" "0" "" "" "g.79557265C>T" "" "likely pathogenic" "" "0000659499" "20" "77" "10" "81317201" "81317201" "subst" "0" "03583" "SFTPA2_000024" "g.81317201T>A" "" "{PMID:van Moorsel 2015:26568241}" "" "" "" "Germline" "" "" "0" "" "" "g.79557445T>A" "" "likely pathogenic" "" "0000659500" "10" "77" "10" "81317201" "81317201" "subst" "0" "03583" "SFTPA2_000024" "g.81317201T>A" "" "{PMID:van Moorsel 2015:26568241}" "" "" "" "Germline" "" "" "0" "" "" "g.79557445T>A" "" "likely pathogenic" "" "0000659501" "0" "55" "10" "81317180" "81317180" "subst" "1.2203E-5" "03583" "SFTPA2_000023" "g.81317180C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.79557424C>T" "" "VUS" "" "0000659502" "0" "55" "10" "81317180" "81317180" "subst" "1.2203E-5" "03583" "SFTPA2_000023" "g.81317180C>T" "" "{PMID:Coghlan 2014:25553246}" "" "" "" "Germline" "" "" "0" "" "" "g.79557424C>T" "" "VUS" "" "0000659503" "20" "77" "10" "81317020" "81317020" "subst" "0" "03583" "SFTPA2_000020" "g.81317020C>A" "" "{PMID:Wang 2009:19100526}" "" "" "" "Germline" "" "rs121917737" "0" "" "" "g.79557264C>A" "" "pathogenic" "" "0000659504" "20" "77" "10" "81317119" "81317119" "subst" "0" "03583" "SFTPA2_000022" "g.81317119A>G" "" "{PMID:Wang 2009:19100526}" "" "" "" "Germline" "" "rs121917738" "0" "" "" "g.79557363A>G" "" "pathogenic" "" "0000659505" "10" "77" "10" "81317020" "81317020" "subst" "0" "03583" "SFTPA2_000020" "g.81317020C>A" "" "{PMID:Wang 2009:19100526}" "" "" "" "Germline" "" "rs121917737" "0" "" "" "g.79557264C>A" "" "pathogenic" "" "0000659506" "10" "77" "10" "81317020" "81317020" "subst" "0" "03583" "SFTPA2_000020" "g.81317020C>A" "" "{PMID:Wang 2009:19100526}" "" "" "" "Germline" "" "rs121917737" "0" "" "" "g.79557264C>A" "" "pathogenic" "" "0000659507" "10" "77" "10" "81317020" "81317020" "subst" "0" "03583" "SFTPA2_000020" "g.81317020C>A" "" "{PMID:Wang 2009:19100526}" "" "" "" "Germline" "" "rs121917737" "0" "" "" "g.79557264C>A" "" "pathogenic" "" "0000659508" "10" "77" "10" "81317020" "81317020" "subst" "0" "03583" "SFTPA2_000020" "g.81317020C>A" "" "{PMID:Wang 2009:19100526}" "" "" "" "Germline" "" "rs121917737" "0" "" "" "g.79557264C>A" "" "pathogenic" "" "0000659509" "20" "77" "10" "81317020" "81317020" "subst" "0" "03583" "SFTPA2_000020" "g.81317020C>A" "" "{PMID:Wang 2009:19100526}" "" "" "" "Germline" "" "rs121917737" "0" "" "" "g.79557264C>A" "" "pathogenic" "" "0000659510" "10" "77" "10" "81317020" "81317020" "subst" "0" "03583" "SFTPA2_000020" "g.81317020C>A" "" "{PMID:Wang 2009:19100526}" "" "" "" "Germline" "" "rs121917737" "0" "" "" "g.79557264C>A" "" "pathogenic" "" "0000659511" "10" "77" "10" "81317020" "81317020" "subst" "0" "03583" "SFTPA2_000020" "g.81317020C>A" "" "{PMID:Wang 2009:19100526}" "" "" "" "Germline" "" "rs121917737" "0" "" "" "g.79557264C>A" "" "pathogenic" "" "0000804583" "0" "50" "10" "81318677" "81318677" "subst" "8.12229E-5" "01943" "SFTPA2_000011" "g.81318677C>T" "" "" "" "SFTPA2(NM_001320814.1):c.287G>A (p.G96E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862002" "0" "30" "10" "81318736" "81318736" "subst" "0.00102757" "02326" "SFTPA2_000025" "g.81318736T>C" "" "" "" "SFTPA2(NM_001098668.4):c.198A>G (p.T66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862003" "0" "30" "10" "81318737" "81318737" "subst" "0.000970803" "02326" "SFTPA2_000026" "g.81318737G>A" "" "" "" "SFTPA2(NM_001098668.4):c.197C>T (p.T66I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862004" "0" "10" "10" "81318748" "81318748" "subst" "0.00171467" "02326" "SFTPA2_000015" "g.81318748C>T" "" "" "" "SFTPA2(NM_001098668.4):c.186G>A (p.P62=), SFTPA2(NM_001320814.1):c.216G>A (p.P72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889266" "0" "10" "10" "81318680" "81318680" "subst" "0.00235951" "02326" "SFTPA2_000005" "g.81318680C>T" "" "" "" "SFTPA2(NM_001098668.3):c.254G>A (p.R85H), SFTPA2(NM_001098668.4):c.254G>A (p.R85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889267" "0" "10" "10" "81319184" "81319184" "subst" "0.000982911" "02326" "SFTPA2_000016" "g.81319184G>A" "" "" "" "SFTPA2(NM_001098668.3):c.56C>T (p.A19V), SFTPA2(NM_001098668.4):c.56C>T (p.A19V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000998557" "0" "50" "10" "81317059" "81317059" "subst" "8.12262E-6" "01804" "SFTPA2_000027" "g.81317059C>A" "" "" "" "SFTPA2(NM_001098668.2):c.653G>T (p.(Gly218Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998558" "0" "30" "10" "81318681" "81318681" "subst" "0.00277805" "01804" "SFTPA2_000028" "g.81318681G>A" "" "" "" "SFTPA2(NM_001098668.2):c.253C>T (p.(Arg85Cys))" "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 SFTPA2 ## Count = 44 "{{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}}" "0000249146" "00018789" "10" "371" "-19" "371" "-19" "c.371-19T>C" "r.(=)" "p.(=)" "" "0000298152" "00018789" "10" "-23" "-161" "-23" "-161" "c.-23-161G>A" "r.(=)" "p.(=)" "" "0000298153" "00018789" "10" "-23" "-5" "-23" "-5" "c.-23-5G>A" "r.spl?" "p.?" "" "0000298154" "00018789" "10" "26" "0" "26" "0" "c.26C>A" "r.(?)" "p.(Thr9Asn)" "" "0000298155" "00018789" "10" "667" "0" "667" "0" "c.667C>A" "r.(?)" "p.(Gln223Lys)" "" "0000307985" "00018789" "30" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(His39=)" "" "0000307986" "00018789" "30" "165" "0" "165" "0" "c.165C>A" "r.(?)" "p.(Gly55=)" "" "0000307987" "00018789" "10" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85His)" "" "0000307989" "00018789" "50" "633" "0" "633" "0" "c.633G>C" "r.(?)" "p.(Trp211Cys)" "" "0000346339" "00018789" "50" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Gly86Glu)" "" "0000541083" "00018789" "30" "690" "0" "690" "0" "c.690T>C" "r.(?)" "p.(Asp230=)" "" "0000541084" "00018789" "10" "420" "0" "420" "0" "c.420C>T" "r.(?)" "p.(Ser140=)" "" "0000541085" "00018789" "50" "283" "0" "284" "0" "c.283_284dup" "r.(?)" "p.(Pro96AlafsTer9)" "" "0000541086" "00018789" "30" "186" "0" "186" "0" "c.186G>A" "r.(?)" "p.(Pro62=)" "" "0000541087" "00018789" "30" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Ala19Val)" "" "0000612694" "00018789" "70" "633" "0" "633" "0" "c.633G>C" "r.(?)" "p.(Trp211Cys)" "" "0000622436" "00018789" "50" "698" "0" "698" "0" "c.698G>T" "r.(?)" "p.(Trp233Leu)" "" "0000622437" "00018789" "50" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Gly123Glu)" "" "0000643158" "00018789" "70" "629" "0" "629" "0" "c.629A>C" "r.(?)" "p.(Asn210Thr)" "6" "0000643161" "00018789" "70" "629" "0" "629" "0" "c.629A>C" "r.(?)" "p.(Asn210Thr)" "6" "0000659496" "00018789" "77" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Gly231Arg)" "6" "0000659497" "00018789" "77" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Gly231Arg)" "6" "0000659498" "00018789" "77" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Gly231Arg)" "6" "0000659499" "00018789" "77" "511" "0" "511" "0" "c.511A>T" "r.(?)" "p.(Asn171Tyr)" "6" "0000659500" "00018789" "77" "511" "0" "511" "0" "c.511A>T" "r.(?)" "p.(Asn171Tyr)" "6" "0000659501" "00018789" "55" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Val178Met)" "6" "0000659502" "00018789" "55" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Val178Met)" "6" "0000659503" "00018789" "77" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "6" "0000659504" "00018789" "77" "593" "0" "593" "0" "c.593T>C" "r.(?)" "p.(Phe198Ser)" "6" "0000659505" "00018789" "77" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "6" "0000659506" "00018789" "77" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "6" "0000659507" "00018789" "77" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "6" "0000659508" "00018789" "77" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "6" "0000659509" "00018789" "77" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "6" "0000659510" "00018789" "77" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "6" "0000659511" "00018789" "77" "692" "0" "692" "0" "c.692G>T" "r.(?)" "p.(Gly231Val)" "6" "0000804583" "00018789" "50" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Gly86Glu)" "" "0000862002" "00018789" "30" "198" "0" "198" "0" "c.198A>G" "r.(?)" "p.(Thr66=)" "" "0000862003" "00018789" "30" "197" "0" "197" "0" "c.197C>T" "r.(?)" "p.(Thr66Ile)" "" "0000862004" "00018789" "10" "186" "0" "186" "0" "c.186G>A" "r.(?)" "p.(Pro62=)" "" "0000889266" "00018789" "10" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85His)" "" "0000889267" "00018789" "10" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Ala19Val)" "" "0000998557" "00018789" "50" "653" "0" "653" "0" "c.653G>T" "r.(?)" "p.(Gly218Val)" "" "0000998558" "00018789" "30" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000287351" "0000643158" "0000287366" "0000643161" "0000296849" "0000659496" "0000296850" "0000659497" "0000296851" "0000659498" "0000296852" "0000659499" "0000296853" "0000659500" "0000296854" "0000659501" "0000296855" "0000659502" "0000296856" "0000659503" "0000296857" "0000659504" "0000296858" "0000659505" "0000296859" "0000659506" "0000296860" "0000659507" "0000296861" "0000659508" "0000296862" "0000659509" "0000296863" "0000659510" "0000296864" "0000659511"