### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SFTPC) # 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}}" "SFTPC" "surfactant protein C" "8" "p21" "unknown" "NG_016968.1" "UD_132119108303" "" "https://www.LOVD.nl/SFTPC" "" "1" "10802" "6440" "178620" "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/SFTPC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "03567" "2020-03-11 16:42:25" "00000" "2024-04-19 20:27:30" ## 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}}" "00018791" "SFTPC" "transcript variant 1" "001" "NM_003018.3" "" "NP_003009.2" "" "" "" "-158" "826" "594" "22019184" "22021992" "" "0000-00-00 00:00:00" "" "" ## 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" "01536" "IPF" "fibrosis, pulmonary, idiopathic (IPF)" "AD" "178500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-02-10 12:49:40" "02991" "SMDP2" "surfactant metabolism dysfunction, pulmonary, type 2 (SMDP-2)" "AD" "610913" "" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "SFTPC" "01536" "SFTPC" "02991" ## Individuals ## Do not remove or alter this header ## ## Count = 51 "{{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}}" "00029666" "" "" "" "1" "" "01214" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "Pat7" "F" "" "Italy" "" "0" "" "" "" "" "00029669" "" "" "" "1" "" "01214" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "Pat8" "M" "" "Italy" "" "0" "" "" "white" "" "00029671" "" "" "" "1" "" "01214" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "" "F" "" "Italy" "" "0" "" "" "" "" "00029672" "" "" "" "1" "" "01214" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "Pat1, asymptomatic heterozygous carrier parent" "F" "" "Italy" "" "0" "" "" "white" "" "00029673" "" "" "" "1" "" "01214" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "Pat2, asymptomatic heterozygous carrier parent" "M" "" "Italy" "" "0" "" "" "" "" "00090135" "" "" "" "1" "" "01844" "" "" "F" "no" "France" "00y03m" "0" "" "" "" "" "00092294" "" "" "" "1" "" "00006" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "Pat3" "M" "" "Romania" "" "0" "" "" "white" "" "00092295" "" "" "" "1" "" "00006" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "Pat4, asymptomatic heterozygous carrier parent" "F" "" "Italy" "" "0" "" "" "white" "" "00092296" "" "" "" "1" "" "00006" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "Pat5, asymptomatic heterozygous carrier parent" "M" "" "Italy" "" "0" "" "" "white" "" "00100240" "" "" "" "1" "" "01844" "" "" "F" "?" "" "" "0" "" "" "" "" "00100241" "" "" "" "3" "" "00006" "{PMID:Nogee 2001:11207353}, {DOI:Nogee 2001:10.1056/NEJM200102223440805}" "3-generation family, affected child, mother and maternal grandfather" "F" "no" "United States" "" "0" "" "" "" "" "00100242" "" "" "" "1" "" "00006" "{PMID:Litao 2017:27362365}, {DOI:Litao 2017:10.1002/ppul.23493}" "2-generation family, 1 affected, healthy parents untested" "F" "yes" "United States" "" "0" "" "" "Yemeni" "" "00106729" "" "" "" "1" "" "00006" "{PMID:Nogee 2002:11893657}" "infants with chronic lung diseases of unknown etiology" "" "" "United States" "" "0" "" "" "" "11893657-cases" "00106730" "" "" "" "1" "" "00006" "{PMID:Nogee 2002:11893657}" "infants with chronic lung diseases of unknown etiology" "" "" "United States" "" "0" "" "" "" "11893657-cases" "00106731" "" "" "" "1" "" "00006" "{PMID:Nogee 2002:11893657}" "infants with chronic lung diseases of unknown etiology" "" "" "United States" "" "0" "" "" "" "11893657-cases" "00106732" "" "" "" "1" "" "00006" "{PMID:Nogee 2002:11893657}" "infants with chronic lung diseases of unknown etiology" "" "" "United States" "" "0" "" "" "" "11893657-cases" "00106733" "" "" "" "1" "" "00006" "{PMID:Nogee 2002:11893657}" "infants with chronic lung diseases of unknown etiology" "" "" "United States" "" "0" "" "" "" "11893657-cases" "00106734" "" "" "" "1" "" "00006" "{PMID:Nogee 2002:11893657}" "infants with chronic lung diseases of unknown etiology" "" "" "United States" "" "0" "" "" "" "11893657-cases" "00106735" "" "" "" "1" "" "00006" "{PMID:Nogee 2002:11893657}" "infants with chronic lung diseases of unknown etiology" "" "" "United States" "" "0" "" "" "" "11893657-cases" "00106736" "" "" "" "1" "" "00006" "{PMID:Nogee 2002:11893657}" "infants with chronic lung diseases of unknown etiology" "" "" "United States" "" "0" "" "" "" "11893657-cases" "00106737" "" "" "" "1" "" "00006" "{PMID:Nogee 2002:11893657}" "infants with chronic lung diseases of unknown etiology" "" "" "United States" "" "0" "" "" "" "11893657-cases" "00106738" "" "" "" "1" "" "00006" "{PMID:Nogee 2002:11893657}" "infants with chronic lung diseases of unknown etiology" "" "" "United States" "" "0" "" "" "" "11893657-cases" "00295624" "" "" "" "1" "" "03583" "{PMID:Juge 2017:28495692}" "" "M" "?" "France" ">48y" "0" "" "" "" "" "00296494" "" "" "" "1" "" "03583" "{PMID:van Moorsel 2010:20656946}" "" "M" "" "Netherlands" ">44y" "0" "" "" "" "FamFPF7-proband" "00296495" "" "" "" "3" "" "03583" "{PMID:van Moorsel 2010:20656946}" "" "F" "" "Netherlands" ">32y" "0" "" "" "" "FamFPF9-proband" "00296496" "" "" "" "1" "" "03583" "{PMID:van Moorsel 2010:20656946}" "" "M" "" "Netherlands" "33y" "0" "" "" "" "FamFPF10-proband" "00296497" "" "" "" "1" "" "03583" "{PMID:van Moorsel 2010:20656946}" "" "M" "" "Netherlands" "62y" "0" "" "" "" "FamFPF18-proband" "00296498" "" "" "" "2" "" "03583" "{PMID:van Moorsel 2010:20656946}" "" "M" "" "Netherlands" "76y" "0" "" "" "" "FamFPF20-proband" "00296499" "" "" "" "3" "" "03583" "{PMID:van Moorsel 2010:20656946}" "" "F" "" "Netherlands" ">34y" "0" "" "" "" "FamFPF9-sister" "00296500" "" "" "" "3" "" "03583" "" "" "F" "" "Netherlands" "76y" "0" "" "" "" "FamFPF9-maternal aunt" "00296501" "" "" "" "2" "" "03583" "" "" "M" "" "Netherlands" ">50y" "0" "" "" "" "FamFPF20-nephew" "00296502" "" "" "" "2" "" "03583" "" "" "F" "" "Netherlands" ">60y" "0" "" "" "" "FamFPF76-proband" "00296503" "" "" "" "2" "" "03583" "" "" "F" "" "Netherlands" ">32y" "0" "" "" "" "FamFPF76-daughter" "00296504" "" "" "" "1" "" "03583" "" "" "F" "" "Netherlands" ">55y" "0" "" "" "" "FamFPF87-proband" "00296505" "" "" "" "1" "" "03583" "" "" "M" "" "Netherlands" ">46y" "0" "" "" "" "FamFPF257-proband" "00296506" "" "" "" "1" "" "03583" "{PMID:Coghlan 2014:25553246}" "" "" "" "" "" "0" "" "" "" "" "00296507" "" "" "" "1" "" "03583" "{PMID:Coghlan 2014:25553246}" "" "" "" "" "" "0" "" "" "" "" "00296508" "" "" "" "1" "" "03583" "{PMID:Coghlan 2014:25553246}" "" "" "" "" "" "0" "" "" "" "" "00296509" "" "" "" "1" "" "03583" "{PMID:Coghlan 2014:25553246}" "" "" "" "" "" "0" "" "" "" "" "00296510" "" "" "" "1" "" "03583" "{PMID:Coghlan 2014:25553246}" "" "" "" "" "" "0" "" "" "" "" "00296511" "" "" "" "3" "" "03583" "{PMID:Ono 2011:21828032}" "" "F" "" "Japan" ">63y" "0" "" "" "" "grandmother proband" "00296512" "" "" "" "3" "" "03583" "{PMID:Ono 2011:21828032}" "" "F" "" "Japan" "41y" "0" "" "" "" "mother proband" "00296513" "" "" "" "3" "" "03583" "{PMID:Ono 2011:21828032}" "" "F" "" "Japan" ">18y" "0" "" "" "" "proband" "00296514" "" "" "" "2" "" "03583" "{PMID:Cottin 2011:21248320}" "" "F" "" "" ">34y" "0" "" "" "" "proband" "00296515" "" "" "" "2" "" "03583" "{PMID:Cottin 2011:21248320}" "" "F" "" "" "" "0" "" "" "" "daughter proband" "00296516" "" "" "" "1" "" "03583" "{PMID:Fattori 2019:30955586}" "" "M" "" "" ">40y" "0" "" "" "" "" "00296517" "" "" "" "1" "" "03583" "{PMID:Thomas 2002:11991887}, {PMID:Chibbar 2004:15133475}" "" "M" "" "" "" "0" "" "" "" "" "00296518" "" "" "" "1" "" "03583" "{PMID:Guillot 2009:19443464}" "" "" "" "France" "" "0" "" "" "" "" "00296519" "" "" "" "1" "" "03583" "{PMID:Guillot 2009:19443464}" "" "" "" "France" "" "0" "" "" "" "" "00296520" "" "" "" "1" "" "03583" "{PMID:Kazzi 2018:30094155}" "" "M" "" "" ">27y" "0" "" "" "" "" "00296521" "" "" "" "1" "" "03583" "{PMID:Juge 2017:28495692}" "" "F" "" "France" ">40y" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 51 "{{individualid}}" "{{diseaseid}}" "00029666" "02991" "00029669" "02991" "00029671" "02991" "00029672" "02991" "00029673" "02991" "00090135" "02991" "00092294" "02991" "00092295" "02991" "00092296" "02991" "00100240" "02991" "00100241" "02991" "00100242" "02991" "00106729" "00198" "00106730" "00198" "00106731" "00198" "00106732" "00198" "00106733" "00198" "00106734" "00198" "00106735" "00198" "00106736" "00198" "00106737" "00198" "00106738" "00198" "00295624" "01536" "00296494" "01536" "00296495" "01536" "00296496" "01536" "00296497" "01536" "00296498" "01536" "00296499" "01536" "00296500" "01536" "00296501" "01536" "00296502" "01536" "00296503" "01536" "00296504" "01536" "00296505" "01536" "00296506" "01536" "00296507" "01536" "00296508" "01536" "00296509" "01536" "00296510" "01536" "00296511" "01536" "00296512" "01536" "00296513" "01536" "00296514" "01536" "00296515" "02991" "00296516" "01536" "00296517" "01536" "00296518" "01536" "00296519" "01536" "00296520" "01536" "00296521" "01536" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01536, 02991 ## Count = 50 "{{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}}" "0000025768" "02991" "00029673" "01214" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000025769" "02991" "00029672" "01214" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000025770" "02991" "00029671" "01214" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000025771" "02991" "00029669" "01214" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000025772" "02991" "00029666" "01214" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070631" "02991" "00090135" "01844" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070635" "02991" "00092294" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000070636" "02991" "00092295" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000070637" "02991" "00092296" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000078477" "02991" "00100241" "00006" "Familial, autosomal dominant" "" "see paper; ..., chest radiography showed hyperinflation with increased interstitial markings, open-lung biopsy histologic features resemble most closely cellular or nonspecific interstitial pneumonitis; mother 1y diagnosed with desquamative interstitial pneumonitis treated until 15y with glucocorticoids, lung disease worsened after delivery, died from respiratory failure; maternal grandfather died from lifelong lung disease of unknown cause" "00y01m15d" "" "respiratory symptoms of tachypnea, cyanosis while breathing room air" "" "" "" "" "" "" "" "" "0000078478" "02991" "00100242" "00006" "Unknown" "" "see paper; ..., onset symptoms early infancy, progressive respiratory failure with need for prolonged mechanical ventilatory support, 1y-lung transplant" "" "" "" "" "" "" "" "" "" "" "" "0000078480" "02991" "00100240" "01844" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000084526" "00198" "00106729" "00006" "Isolated (sporadic)" "" "interstitial lung disease (ILD)" "" "" "" "" "" "" "" "" "" "" "" "0000084527" "00198" "00106730" "00006" "Unknown" "" "interstitial lung disease (ILD)" "" "" "" "" "" "" "" "" "" "" "" "0000084528" "00198" "00106731" "00006" "Unknown" "" "interstitial lung disease (ILD)" "" "" "" "" "" "" "" "" "" "" "" "0000084529" "00198" "00106732" "00006" "Unknown" "" "interstitial lung disease (ILD)" "" "" "" "" "" "" "" "" "" "" "" "0000084530" "00198" "00106733" "00006" "Unknown" "" "interstitial lung disease (ILD)" "" "" "" "" "" "" "" "" "" "" "" "0000084531" "00198" "00106734" "00006" "Unknown" "" "interstitial lung disease (ILD)" "" "" "" "" "" "" "" "" "" "" "" "0000084532" "00198" "00106735" "00006" "Unknown" "" "interstitial lung disease (ILD)" "" "" "" "" "" "" "" "" "" "" "" "0000084533" "00198" "00106736" "00006" "Unknown" "" "interstitial lung disease (ILD)" "" "" "" "" "" "" "" "" "" "" "" "0000084534" "00198" "00106737" "00006" "Unknown" "" "interstitial lung disease (ILD)" "" "" "" "" "" "" "" "" "" "" "" "0000084535" "00198" "00106738" "00006" "Unknown" "" "interstitial lung disease (ILD)" "" "" "" "" "" "" "" "" "" "" "" "0000223900" "01536" "00296494" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "30y" "" "" "" "" "" "" "" "" "" "0000223901" "01536" "00296495" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "29y" "" "" "" "" "" "" "" "" "" "0000223902" "01536" "00296496" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "32y" "" "" "" "" "" "" "" "" "" "0000223903" "01536" "00296497" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "55y" "" "" "" "" "" "" "" "" "" "0000223904" "01536" "00296498" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "72y" "" "" "" "" "" "" "" "" "" "0000223905" "01536" "00296499" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "30y" "" "" "" "" "" "" "" "" "" "0000223906" "01536" "00296500" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "74y" "" "" "" "" "" "" "" "" "" "0000223907" "01536" "00296501" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "46y" "" "" "" "" "" "" "" "" "" "0000223908" "01536" "00296502" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "58y" "" "" "" "" "" "" "" "" "" "0000223909" "01536" "00296503" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "28y" "" "" "" "" "" "" "" "" "" "0000223910" "01536" "00296504" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "54y" "" "" "" "" "" "" "" "" "" "0000223911" "01536" "00296505" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "45y" "" "" "" "" "" "" "" "" "" "0000223912" "01536" "00296506" "03583" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223913" "01536" "00296507" "03583" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223914" "01536" "00296508" "03583" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223915" "01536" "00296509" "03583" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223916" "01536" "00296510" "03583" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223917" "01536" "00296511" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "63y" "" "" "" "" "" "" "" "" "" "0000223918" "01536" "00296512" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "34y" "" "" "" "" "" "" "" "" "" "0000223919" "01536" "00296513" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "18y" "" "" "" "" "" "" "" "" "" "0000223920" "01536" "00296514" "03583" "Familial" "" "combined pulmonary fibrosis and emphysema (CPFE)" "" "" "" "" "" "" "" "" "" "" "" "0000223921" "02991" "00296515" "03583" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223922" "01536" "00296516" "03583" "Unknown" "" "genetic related IPF/brass instrument/mold induced chronic hypersensitivity pneumonitis" "" ">40y" "" "" "" "" "" "" "" "" "" "0000223923" "01536" "00296517" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "32y" "" "" "" "" "" "" "" "" "" "0000223924" "01536" "00296518" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "" "" "" "" "" "" "" "" "" "" "0000223925" "01536" "00296519" "03583" "Familial" "" "pulmonary fibrosis/interstitial pneumonitis" "" "" "" "" "" "" "" "" "" "" "" "0000223926" "01536" "00296520" "03583" "Unknown" "" "11 mo: RDS; adult: pulmonary fibrosis/interstitial pneumonitis" "" "" "" "" "" "" "" "" "" "" "" "0000223927" "01536" "00296521" "03583" "Unknown" "" "Reumatoid Arthritis associated Interstitial Pneumonitis" "" "34y" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 51 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029709" "00029666" "1" "01214" "01214" "2015-01-26 14:45:45" "" "" "SEQ" "RNA" "" "" "0000029711" "00029669" "1" "01214" "01214" "2015-01-26 15:53:24" "" "" "SEQ" "DNA" "" "" "0000029713" "00029671" "1" "01214" "01214" "2015-01-26 16:02:31" "" "" "SEQ" "DNA" "" "" "0000029714" "00029672" "1" "01214" "01214" "2015-01-26 16:15:36" "" "" "SEQ" "DNA" "" "" "0000029715" "00029673" "1" "01214" "01214" "2015-01-26 16:21:09" "" "" "SEQ" "DNA" "" "" "0000090279" "00090135" "1" "01844" "01844" "2016-12-08 12:05:42" "" "" "SEQ" "DNA" "" "" "0000092434" "00092294" "1" "00006" "00006" "2016-12-23 14:42:28" "" "" "SEQ" "DNA" "" "" "0000092435" "00092295" "1" "00006" "00006" "2016-12-23 14:42:28" "" "" "SEQ" "DNA" "" "" "0000092436" "00092296" "1" "00006" "00006" "2016-12-23 14:42:28" "" "" "SEQ" "DNA" "" "" "0000100644" "00100240" "1" "01844" "01844" "2017-02-07 17:54:32" "" "" "RT-PCR" "RNA" "" "" "0000100645" "00100241" "1" "00006" "00006" "2017-02-07 21:47:49" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000100646" "00100242" "1" "00006" "00006" "2017-02-07 22:19:50" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000107200" "00106729" "1" "00006" "00006" "2017-07-10 21:23:36" "" "" "SEQ" "DNA" "" "" "0000107201" "00106730" "1" "00006" "00006" "2017-07-10 21:23:36" "" "" "SEQ" "DNA" "" "" "0000107202" "00106731" "1" "00006" "00006" "2017-07-10 21:23:36" "" "" "SEQ" "DNA" "" "" "0000107203" "00106732" "1" "00006" "00006" "2017-07-10 21:23:36" "" "" "SEQ" "DNA" "" "" "0000107204" "00106733" "1" "00006" "00006" "2017-07-10 21:23:36" "" "" "SEQ" "DNA" "" "" "0000107205" "00106734" "1" "00006" "00006" "2017-07-10 21:23:36" "" "" "SEQ" "DNA" "" "" "0000107206" "00106735" "1" "00006" "00006" "2017-07-10 21:23:36" "" "" "SEQ" "DNA" "" "" "0000107207" "00106736" "1" "00006" "00006" "2017-07-10 21:23:36" "" "" "SEQ" "DNA" "" "" "0000107208" "00106737" "1" "00006" "00006" "2017-07-10 21:23:36" "" "" "SEQ" "DNA" "" "" "0000107209" "00106738" "1" "00006" "00006" "2017-07-10 21:23:36" "" "" "SEQ" "DNA" "" "" "0000296796" "00295624" "1" "03583" "03583" "2020-03-20 13:54:58" "" "" "SEQ-NG" "DNA" "" "" "0000297604" "00296494" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297605" "00296495" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297606" "00296496" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297607" "00296497" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297608" "00296498" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297609" "00296499" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297610" "00296500" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297611" "00296501" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297612" "00296502" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297613" "00296503" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297614" "00296504" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297615" "00296505" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297616" "00296506" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "?" "?" "" "" "0000297617" "00296507" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "?" "?" "" "" "0000297618" "00296508" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "?" "?" "" "" "0000297619" "00296509" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "?" "?" "" "" "0000297620" "00296510" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "?" "?" "" "" "0000297621" "00296511" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297622" "00296512" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297623" "00296513" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297624" "00296514" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297625" "00296515" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297626" "00296516" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297627" "00296517" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "?" "DNA" "" "" "0000297628" "00296518" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297629" "00296519" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ" "DNA" "" "" "0000297630" "00296520" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000297631" "00296521" "1" "03583" "00001" "2020-04-07 18:09:35" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 51 "{{screeningid}}" "{{geneid}}" "0000029709" "SFTPC" "0000029711" "SFTPC" "0000029713" "SFTPC" "0000029714" "SFTPC" "0000029715" "SFTPC" "0000090279" "SFTPC" "0000092434" "SFTPC" "0000092435" "SFTPC" "0000092436" "SFTPC" "0000100644" "SFTPC" "0000100645" "SFTPC" "0000100646" "SFTPC" "0000107200" "SFTPC" "0000107201" "SFTPC" "0000107202" "SFTPC" "0000107203" "SFTPC" "0000107204" "SFTPC" "0000107205" "SFTPC" "0000107206" "SFTPC" "0000107207" "SFTPC" "0000107208" "SFTPC" "0000107209" "SFTPC" "0000296796" "SFTPC" "0000297604" "SFTPC" "0000297605" "SFTPC" "0000297606" "SFTPC" "0000297607" "SFTPC" "0000297608" "SFTPC" "0000297609" "SFTPC" "0000297610" "SFTPC" "0000297611" "SFTPC" "0000297612" "SFTPC" "0000297613" "SFTPC" "0000297614" "SFTPC" "0000297615" "SFTPC" "0000297616" "SFTPC" "0000297617" "SFTPC" "0000297618" "SFTPC" "0000297619" "SFTPC" "0000297620" "SFTPC" "0000297621" "SFTPC" "0000297622" "SFTPC" "0000297623" "SFTPC" "0000297624" "SFTPC" "0000297625" "SFTPC" "0000297626" "SFTPC" "0000297627" "SFTPC" "0000297628" "SFTPC" "0000297629" "SFTPC" "0000297630" "SFTPC" "0000297631" "SFTPC" ## 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 = 68 "{{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}}" "0000053104" "0" "50" "8" "22021423" "22021423" "subst" "0.00020017" "01214" "SFTPC_000005" "g.22021423G>C" "" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "" "" "" "Unknown" "" "rs202145169" "0" "" "" "g.22163910G>C" "" "VUS" "" "0000053106" "0" "50" "8" "22021478" "22021478" "subst" "0" "01214" "SFTPC_000004" "g.22021478C>A" "" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "" "" "" "Unknown" "" "" "0" "" "" "g.22163965C>A" "" "VUS" "" "0000053108" "0" "90" "8" "22020695" "22020695" "subst" "4.06161E-6" "01214" "SFTPC_000003" "g.22020695G>A" "" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "" "" "" "Unknown" "" "" "0" "" "" "g.22163182G>A" "" "pathogenic" "" "0000053109" "11" "90" "8" "22020240" "22020240" "subst" "0" "01214" "SFTPC_000002" "g.22020240G>A" "" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "" "" "" "Unknown" "" "rs121917836" "0" "" "" "g.22162727G>A" "" "pathogenic" "" "0000053110" "11" "90" "8" "22020609" "22020609" "subst" "0" "01214" "SFTPC_000001" "g.22020609T>C" "" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "" "" "" "Unknown" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000150752" "0" "90" "8" "22021059" "22021059" "subst" "0" "01844" "SFTPC_000006" "g.22021059G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.22163546G>C" "" "pathogenic" "" "0000150761" "11" "90" "8" "22020609" "22020609" "subst" "0" "00006" "SFTPC_000001" "g.22020609T>C" "" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000150762" "0" "90" "8" "22020609" "22020609" "subst" "0" "00006" "SFTPC_000001" "g.22020609T>C" "" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000150763" "21" "90" "8" "22020609" "22020609" "subst" "0" "00006" "SFTPC_000001" "g.22020609T>C" "" "{PMID:Peca 2015:25782673}, {DOI:Peca 2015:10.1038/ejhg.2015.45}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000162949" "0" "90" "8" "22021060" "22021060" "subst" "0" "01844" "SFTPC_000007" "g.22021060G>A" "" "Fanen, submitted" "" "" "consequences on splicing determined using a mini-gene construct" "In vitro (cloned)" "-" "" "0" "" "" "g.22163547G>A" "" "NA" "" "0000162950" "0" "90" "8" "22021059" "22021059" "subst" "0" "01844" "SFTPC_000008" "g.22021059G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.22163546G>A" "" "pathogenic" "" "0000162951" "21" "90" "8" "22021060" "22021060" "subst" "0" "00006" "SFTPC_000007" "g.22021060G>A" "" "{PMID:Nogee 2001:11207353}, {DOI:Nogee 2001:10.1056/NEJM200102223440805}, {OMIM178620:0001}" "BstNI-" "" "not in 100 control chromosomes; small amount of surfactant protein C precursor protein in lung tissue with predominant band migrating at a lower\r\nmolecular weight, mature surfactant protein C undetectable in lung tissue/bronchoalveolar-lavage fluid" "Germline" "yes" "" "0" "" "" "g.22163547G>A" "" "pathogenic" "" "0000162952" "0" "90" "8" "22021059" "22021059" "subst" "0" "00006" "SFTPC_000008" "g.22021059G>A" "" "{PMID:Litao 2017:27362365}, {DOI:Litao 2017:10.1002/ppul.23493}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.22163546G>A" "" "pathogenic" "" "0000172969" "1" "90" "8" "22021060" "22021060" "subst" "0" "00006" "SFTPC_000009" "g.22021060G>T" "1/34 cases" "{PMID:Nogee 2002:11893657}" "" "460+1G>T" "variant not in 100 control chromosomes" "De novo" "" "" "0" "" "" "g.22163547G>T" "" "pathogenic" "" "0000172970" "1" "90" "8" "22020132" "22020132" "subst" "0" "00006" "SFTPC_000010" "g.22020132C>T" "1/34 cases" "{PMID:Nogee 2002:11893657}" "" "" "variant not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.22162619C>T" "" "pathogenic" "" "0000172971" "1" "90" "8" "22020619" "22020619" "subst" "0" "00006" "SFTPC_000011" "g.22020619T>C" "1/34 cases" "{PMID:Nogee 2002:11893657}" "" "" "variant not in 100 control chromosomes\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.22163106T>C" "" "pathogenic" "" "0000172972" "1" "90" "8" "22020690" "22020690" "subst" "0" "00006" "SFTPC_000012" "g.22020690G>T" "1/34 cases" "{PMID:Nogee 2002:11893657}" "" "" "variant not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.22163177G>T" "" "pathogenic" "" "0000172973" "1" "90" "8" "22020701" "22020701" "subst" "0" "00006" "SFTPC_000013" "g.22020701T>C" "1/34 cases" "{PMID:Nogee 2002:11893657}" "" "" "variant not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.22163188T>C" "" "pathogenic" "" "0000172974" "1" "90" "8" "22020968" "22020968" "subst" "0" "00006" "SFTPC_000014" "g.22020968C>T" "1/34 cases" "{PMID:Nogee 2002:11893657}" "" "" "variant not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.22163455C>T" "" "pathogenic" "" "0000172975" "1" "90" "8" "22021001" "22021001" "subst" "0" "00006" "SFTPC_000015" "g.22021001T>G" "1/34 cases" "{PMID:Nogee 2002:11893657}" "" "" "variant not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.22163488T>G" "" "pathogenic" "" "0000172976" "1" "90" "8" "22021520" "22021520" "subst" "0" "00006" "SFTPC_000016" "g.22021520C>A" "1/34 cases" "{PMID:Nogee 2002:11893657}" "" "" "variant not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.22164007C>A" "" "pathogenic" "" "0000172977" "1" "90" "8" "22021523" "22021523" "subst" "0" "00006" "SFTPC_000017" "g.22021523T>G" "1/34 cases" "{PMID:Nogee 2002:11893657}" "" "" "variant not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.22164010T>G" "" "pathogenic" "" "0000172978" "1" "90" "8" "0" "0" "" "0" "00006" "SFTPC_000000" "g.?" "1/34 cases" "{PMID:Nogee 2002:11893657}" "" "140delA" "variant not in 100 control chromosomes" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000298160" "0" "10" "8" "22021883" "22021883" "subst" "0.315827" "02325" "SFTPC_000023" "g.22021883G>A" "" "" "" "SFTPC(NM_001172357.2):c.*329G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22164370G>A" "" "benign" "" "0000298161" "0" "10" "8" "22021037" "22021037" "subst" "0.251143" "02325" "SFTPC_000019" "g.22021037C>A" "" "" "" "SFTPC(NM_001172357.2):c.413C>A (p.T138N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22163524C>A" "" "benign" "" "0000298162" "0" "10" "8" "22021517" "22021517" "subst" "0.298053" "02325" "SFTPC_000021" "g.22021517G>A" "" "" "" "SFTPC(NM_001172357.2):c.539G>A (p.S180N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22164004G>A" "" "benign" "" "0000332047" "0" "50" "8" "22011690" "22011690" "subst" "0" "01804" "LGI3_000001" "g.22011690C>G" "" "" "" "LGI3(NM_139278.2):c.387G>C (p.(Lys129Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22154177C>G" "" "VUS" "" "0000332048" "0" "50" "8" "22012951" "22012951" "subst" "0" "01804" "LGI3_000002" "g.22012951C>G" "" "" "" "LGI3(NM_139278.2):c.232G>C (p.(Glu78Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22155438C>G" "" "VUS" "" "0000332050" "0" "50" "8" "22021447" "22021447" "subst" "0" "01804" "SFTPC_000020" "g.22021447C>T" "" "" "" "SFTPC(NM_001172357.1):c.469C>T (p.(Gln157Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22163934C>T" "" "VUS" "" "0000332052" "0" "50" "8" "22023036" "22023036" "subst" "0" "01804" "BMP1_000058" "g.22023036C>G" "" "" "" "BMP1(NM_001199.3):c.118C>G (p.(Pro40Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22165523C>G" "" "VUS" "" "0000534559" "0" "50" "8" "22013900" "22013900" "subst" "0" "01943" "LGI3_000003" "g.22013900G>C" "" "" "" "LGI3(NM_139278.3):c.156C>G (p.C52W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22156387G>C" "" "VUS" "" "0000534560" "0" "30" "8" "22020679" "22020679" "subst" "0.00334668" "01943" "SFTPC_000024" "g.22020679C>T" "" "" "" "SFTPC(NM_003018.3):c.288C>T (p.I96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22163166C>T" "" "likely benign" "" "0000534561" "0" "10" "8" "22021934" "22021934" "subst" "0.285778" "02325" "SFTPC_000025" "g.22021934G>A" "" "" "" "SFTPC(NM_001172357.2):c.*380G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22164421G>A" "" "benign" "" "0000611589" "0" "50" "8" "22021501" "22021501" "subst" "0.000525142" "01943" "SFTPC_000026" "g.22021501C>G" "" "" "" "SFTPC(NM_003018.3):c.541C>G (p.L181V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22163988C>G" "" "VUS" "" "0000653506" "0" "90" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:Juge 2017:28495692}" "" "" "" "Germline/De novo (untested)" "?" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660209" "20" "77" "8" "22020602" "22020602" "subst" "0" "03583" "SFTPC_000029" "g.22020602A>G" "" "{PMID:van Moorsel 2010:20656946}" "" "" "" "Germline" "" "" "0" "" "" "g.22163089A>G" "" "likely pathogenic" "" "0000660210" "20" "99" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:van Moorsel 2010:20656946}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660211" "10" "99" "8" "22021061" "22021061" "subst" "0" "03583" "SFTPC_000036" "g.22021061T>C" "" "{PMID:van Moorsel 2010:20656946}" "" "" "" "Germline" "" "" "0" "" "" "g.22163548T>C" "" "pathogenic" "" "0000660212" "0" "99" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:van Moorsel 2010:20656946}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660213" "20" "99" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:van Moorsel 2010:20656946}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660214" "20" "99" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:van Moorsel 2010:20656946}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660215" "20" "99" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:van Moorsel 2010:20656946}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660216" "20" "99" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:van Moorsel 2010:20656946}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660217" "0" "55" "8" "22020962" "22020962" "subst" "0" "03583" "SFTPC_000033" "g.22020962A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22163449A>G" "" "VUS" "" "0000660218" "21" "55" "8" "22020962" "22020962" "subst" "0" "03583" "SFTPC_000033" "g.22020962A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22163449A>G" "" "VUS" "" "0000660219" "0" "55" "8" "22021034" "22021034" "subst" "0" "03583" "SFTPC_000035" "g.22021034T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22163521T>C" "" "VUS" "" "0000660220" "21" "55" "8" "22020222" "22020222" "subst" "0" "03583" "SFTPC_000027" "g.22020222A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.22162709A>G" "" "VUS" "" "0000660221" "0" "99" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:Coghlan 2014:25553246}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660222" "0" "99" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:Coghlan 2014:25553246}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660223" "0" "99" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:Coghlan 2014:25553246}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660224" "0" "55" "8" "22020953" "22020953" "subst" "0" "03583" "SFTPC_000031" "g.22020953T>G" "" "{PMID:Coghlan 2014:25553246}" "" "" "" "Germline" "" "rs1003901489" "0" "" "" "g.22163440T>G" "" "VUS" "" "0000660225" "0" "55" "8" "22020958" "22020958" "subst" "1.62985E-5" "03583" "SFTPC_000032" "g.22020958G>A" "" "{PMID:Coghlan 2014:25553246}" "" "" "" "Germline" "" "" "0" "" "" "g.22163445G>A" "" "VUS" "" "0000660226" "0" "55" "8" "22020689" "22020689" "subst" "0" "03583" "SFTPC_000030" "g.22020689G>A" "" "{PMID:Ono 2011:21828032}" "" "" "" "Germline" "" "" "0" "" "" "g.22163176G>A" "" "VUS" "" "0000660227" "21" "55" "8" "22020689" "22020689" "subst" "0" "03583" "SFTPC_000030" "g.22020689G>A" "" "{PMID:Ono 2011:21828032}" "" "" "" "Germline" "" "" "0" "" "" "g.22163176G>A" "" "VUS" "" "0000660228" "21" "55" "8" "22020689" "22020689" "subst" "0" "03583" "SFTPC_000030" "g.22020689G>A" "" "{PMID:Ono 2011:21828032}" "" "" "" "Germline" "" "" "0" "" "" "g.22163176G>A" "" "VUS" "" "0000660229" "0" "99" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:Cottin 2011:21248320}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660230" "21" "99" "8" "22020609" "22020609" "subst" "0" "03583" "SFTPC_000001" "g.22020609T>C" "" "{PMID:Cottin 2011:21248320}" "" "" "" "Germline" "" "rs121917834" "0" "" "" "g.22163096T>C" "" "pathogenic" "" "0000660231" "0" "55" "8" "22020695" "22020695" "subst" "4.06161E-6" "03583" "SFTPC_000003" "g.22020695G>A" "" "{PMID:Fattori 2019:30955586}" "" "" "" "Germline" "" "rs772568845" "0" "" "" "g.22163182G>A" "" "VUS" "" "0000660232" "20" "99" "8" "22021523" "22021523" "subst" "0" "03583" "SFTPC_000037" "g.22021523T>A" "" "{PMID:Thomas 2002:11991887}, {PMID:Chibbar 2004:15133475}" "" "5+128T>A" "" "Germline" "" "rs121917835" "0" "" "" "g.22164010T>A" "" "pathogenic" "" "0000660233" "0" "55" "8" "22021526" "22021526" "subst" "0" "03583" "SFTPC_000038" "g.22021526G>A" "" "{PMID:Guillot 2009:19443464}" "" "" "" "Germline" "" "" "0" "" "" "g.22164013G>A" "" "VUS" "" "0000660234" "0" "77" "8" "22021541" "22021541" "subst" "0" "03583" "SFTPC_000039" "g.22021541T>C" "" "{PMID:Guillot 2009:19443464}" "" "" "" "Germline" "" "rs121918560" "0" "" "" "g.22164028T>C" "" "likely pathogenic" "" "0000660235" "0" "77" "8" "22021021" "22021021" "subst" "0" "03583" "SFTPC_000034" "g.22021021A>C" "" "{PMID:Kazzi 2018:30094155}" "" "" "" "De novo" "" "" "0" "" "" "g.22163508A>C" "" "likely pathogenic" "" "0000660236" "0" "55" "8" "22020224" "22020224" "subst" "0" "03583" "SFTPC_000028" "g.22020224G>A" "" "{PMID:Juge 2017:28495692}" "" "" "" "Germline" "" "" "0" "" "" "g.22162711G>A" "" "VUS" "" "0000803593" "0" "30" "8" "22022924" "22022924" "subst" "0" "01943" "SFTPC_000040" "g.22022924C>A" "" "" "" "BMP1(NM_006129.4):c.6C>A (p.P2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861182" "0" "30" "8" "22019380" "22019380" "subst" "8.13259E-6" "01943" "SFTPC_000041" "g.22019380G>A" "" "" "" "SFTPC(NM_001172357.1):c.39G>A (p.P13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861183" "0" "90" "8" "22020609" "22020609" "subst" "0" "02325" "SFTPC_000001" "g.22020609T>C" "" "" "" "SFTPC(NM_003018.4):c.218T>C (p.I73T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861184" "0" "50" "8" "22021071" "22021072" "dup" "0" "01943" "SFTPC_000042" "g.22021071_22021072dup" "" "" "" "SFTPC(NM_001172357.1):c.435_435+1insGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861185" "0" "30" "8" "22021530" "22021530" "subst" "0.000668052" "01943" "SFTPC_000043" "g.22021530C>T" "" "" "" "SFTPC(NM_001172357.1):c.552C>T (p.G184=)" "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 SFTPC ## 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}}" "0000053104" "00018791" "50" "463" "0" "463" "0" "c.463G>C" "r.(?)" "p.(Ala155Pro)" "5" "0000053106" "00018791" "50" "518" "0" "518" "0" "c.518C>A" "r.(?)" "p.(Pro173His)" "5" "0000053108" "00018791" "90" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Val102Met)" "3" "0000053109" "00018791" "90" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Glu66Lys)" "2" "0000053110" "00018791" "90" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000150752" "00018791" "90" "435" "0" "435" "0" "c.435G>C" "r.325_435del" "p.Leu109_Gln145del" "4" "0000150761" "00018791" "90" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000150762" "00018791" "90" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000150763" "00018791" "90" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000162949" "00018791" "90" "435" "1" "435" "1" "c.435+1G>A" "r.325_435del" "p.Leu109_Gln145del" "4i" "0000162950" "00018791" "90" "435" "0" "435" "0" "c.435G>A" "r.(325_435del)" "p.(Leu109_Gln145del)" "4" "0000162951" "00018791" "90" "435" "1" "435" "1" "c.435+1G>A" "r.325_435del" "p.Leu109_Gln145del" "4i" "0000162952" "00018791" "90" "435" "0" "435" "0" "c.435G>A" "r.325_435del" "p.Leu109_Gln145del" "4" "0000172969" "00018791" "90" "435" "1" "435" "1" "c.435+1G>T" "r.spl" "p.?" "5i" "0000172970" "00018791" "90" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Pro30Leu)" "2" "0000172971" "00018791" "90" "228" "0" "228" "0" "c.228T>C" "r.(?)" "p.(Ile73Thr)" "4" "0000172972" "00018791" "90" "299" "0" "299" "0" "c.299G>T" "r.(?)" "p.(Gly100Val)" "4" "0000172973" "00018791" "90" "310" "0" "310" "0" "c.310T>C" "r.(?)" "p.(Tyr104His)" "4" "0000172974" "00018791" "90" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Pro115Leu)" "4" "0000172975" "00018791" "90" "377" "0" "377" "0" "c.377T>G" "r.(?)" "p.(Ile126Arg)" "5" "0000172976" "00018791" "90" "560" "0" "560" "0" "c.560C>A" "r.(?)" "p.(Thr187Asn)" "6" "0000172977" "00018791" "90" "563" "0" "563" "0" "c.563T>G" "r.(?)" "p.(Leu188Arg)" "6" "0000172978" "00018791" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000298160" "00018791" "10" "717" "0" "717" "0" "c.*123G>A" "r.(=)" "p.(=)" "" "0000298161" "00018791" "10" "413" "0" "413" "0" "c.413C>A" "r.(?)" "p.(Thr138Asn)" "" "0000298162" "00018791" "10" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Ser186Asn)" "" "0000332047" "00018791" "50" "-7652" "0" "-7652" "0" "c.-7652C>G" "r.(?)" "p.(=)" "" "0000332048" "00018791" "50" "-6391" "0" "-6391" "0" "c.-6391C>G" "r.(?)" "p.(=)" "" "0000332050" "00018791" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163Ter)" "" "0000332052" "00018791" "50" "1870" "0" "1870" "0" "c.*1276C>G" "r.(=)" "p.(=)" "" "0000534559" "00018791" "50" "-5442" "0" "-5442" "0" "c.-5442G>C" "r.(?)" "p.(=)" "" "0000534560" "00018791" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Ile96=)" "" "0000534561" "00018791" "10" "768" "0" "768" "0" "c.*174G>A" "r.(=)" "p.(=)" "" "0000611589" "00018791" "50" "541" "0" "541" "0" "c.541C>G" "r.(?)" "p.(Leu181Val)" "" "0000653506" "00018791" "90" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660209" "00018791" "77" "211" "0" "211" "0" "c.211A>G" "r.(?)" "p.(Met71Val)" "3" "0000660210" "00018791" "99" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660211" "00018791" "99" "435" "2" "435" "2" "c.435+2T>C" "r.spl?" "p.?" "" "0000660212" "00018791" "99" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660213" "00018791" "99" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660214" "00018791" "99" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660215" "00018791" "99" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660216" "00018791" "99" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660217" "00018791" "55" "338" "0" "338" "0" "c.338A>G" "r.(?)" "p.(Tyr113Cys)" "4" "0000660218" "00018791" "55" "338" "0" "338" "0" "c.338A>G" "r.(?)" "p.(Tyr113Cys)" "4" "0000660219" "00018791" "55" "410" "0" "410" "0" "c.410T>C" "r.(?)" "p.(Leu137Pro)" "4" "0000660220" "00018791" "55" "178" "0" "178" "0" "c.178A>G" "r.(?)" "p.(Met60Val)" "2" "0000660221" "00018791" "99" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660222" "00018791" "99" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660223" "00018791" "99" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660224" "00018791" "55" "329" "0" "329" "0" "c.329T>G" "r.(?)" "p.(Leu110Arg)" "4" "0000660225" "00018791" "55" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Ala112Thr)" "4" "0000660226" "00018791" "55" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Ser)" "3" "0000660227" "00018791" "55" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Ser)" "3" "0000660228" "00018791" "55" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Ser)" "3" "0000660229" "00018791" "99" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660230" "00018791" "99" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "3" "0000660231" "00018791" "55" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Val102Met)" "3" "0000660232" "00018791" "99" "563" "0" "563" "0" "c.563T>A" "r.(?)" "p.(Leu188Gln)" "5" "0000660233" "00018791" "55" "566" "0" "566" "0" "c.566G>A" "r.(?)" "p.(Cys189Tyr)" "5" "0000660234" "00018791" "77" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Leu194Pro)" "5" "0000660235" "00018791" "77" "397" "0" "397" "0" "c.397A>C" "r.(?)" "p.(Ser133Arg)" "4" "0000660236" "00018791" "55" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Met60Ile)" "2" "0000803593" "00018791" "30" "1758" "0" "1758" "0" "c.*1164C>A" "r.(=)" "p.(=)" "" "0000861182" "00018791" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Pro13=)" "" "0000861183" "00018791" "90" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Ile73Thr)" "" "0000861184" "00018791" "50" "435" "12" "435" "13" "c.435+12_435+13dup" "r.(=)" "p.(=)" "" "0000861185" "00018791" "30" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(Gly190=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 51 "{{screeningid}}" "{{variantid}}" "0000029709" "0000053104" "0000029711" "0000053106" "0000029713" "0000053108" "0000029714" "0000053109" "0000029715" "0000053110" "0000090279" "0000150752" "0000092434" "0000150761" "0000092435" "0000150762" "0000092436" "0000150763" "0000100644" "0000162950" "0000100645" "0000162951" "0000100646" "0000162952" "0000107200" "0000172969" "0000107201" "0000172970" "0000107202" "0000172971" "0000107203" "0000172972" "0000107204" "0000172973" "0000107205" "0000172974" "0000107206" "0000172975" "0000107207" "0000172976" "0000107208" "0000172977" "0000107209" "0000172978" "0000296796" "0000653506" "0000297604" "0000660209" "0000297605" "0000660210" "0000297606" "0000660211" "0000297607" "0000660212" "0000297608" "0000660213" "0000297609" "0000660214" "0000297610" "0000660215" "0000297611" "0000660216" "0000297612" "0000660217" "0000297613" "0000660218" "0000297614" "0000660219" "0000297615" "0000660220" "0000297616" "0000660221" "0000297617" "0000660222" "0000297618" "0000660223" "0000297619" "0000660224" "0000297620" "0000660225" "0000297621" "0000660226" "0000297622" "0000660227" "0000297623" "0000660228" "0000297624" "0000660229" "0000297625" "0000660230" "0000297626" "0000660231" "0000297627" "0000660232" "0000297628" "0000660233" "0000297629" "0000660234" "0000297630" "0000660235" "0000297631" "0000660236"