### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLN) # 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}}" "PLN" "phospholamban" "6" "q22.1" "unknown" "LRG_390" "UD_132118223255" "" "http://www.LOVD.nl/PLN" "" "1" "9080" "5350" "172405" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PLN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-04-19 21:47:06" "00000" "2023-01-11 15:44:22" ## 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}}" "00016371" "PLN" "phospholamban" "001" "NM_002667.3" "" "NP_002658.1" "" "" "" "-211" "1503" "159" "118869442" "118881587" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00404" "LQT" "QT syndrome, long (LQT)" "" "" "" "" "" "00006" "2014-06-06 17:35:42" "00006" "2015-07-04 16:01:55" "02884" "CMD1P" "cardiomyopathy, dilated, type 1P (CMD-1P)" "" "609909" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03477" "CMH18" "cardiomyopathy, hypertrophic, familial, type 18 (CMH-18)" "AD" "613874" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05158" "ARVC" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "00006" "2016-04-19 22:00:09" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PLN" "02884" "PLN" "03477" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00016147" "" "" "" "1" "" "00668" "" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00064031" "" "" "" "1" "" "00006" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "" "" "" "" "" "0" "" "" "" "" "00064067" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064144" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064187" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064222" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163922" "" "" "" "1" "" "00006" "{PMID:Chiu 2007:17655857}" "4-generation family, affected daugther/mother (deceased)" "F" "no" "Australia" "" "0" "" "" "Greek" "17655857-FamDuPatII1" "00219204" "" "" "" "1" "" "02588" "{PMID:Li 2018:30638982}" "" "M" "yes" "China" "" "0" "" "" "" "Proband" "00316714" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316715" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316716" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316717" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316718" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317592" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317593" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317864" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317865" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317866" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317867" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00372041" "" "" "" "1" "" "00006" "{PMID:Singer 2021:32973354}" "" "" "" "Australia" "" "0" "" "" "" "BLX1" "00376394" "" "" "" "1" "" "00006" "{PMID:Nguyen 2021:34011823}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat006" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00016147" "00351" "00064031" "05158" "00064067" "00351" "00064144" "00351" "00064187" "00351" "00064222" "00351" "00163922" "00351" "00219204" "00352" "00316714" "04172" "00316715" "04172" "00316716" "04172" "00316717" "04172" "00316718" "04172" "00317592" "04172" "00317593" "04172" "00317864" "04172" "00317865" "04172" "00317866" "04172" "00317867" "04172" "00372041" "00404" "00376394" "00352" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00351, 00352, 00404, 02884, 03477, 04172, 05158 ## Count = 20 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000014932" "00351" "00016147" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "0000050549" "05158" "00064031" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "0000050583" "00351" "00064067" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000050660" "00351" "00064144" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000050703" "00351" "00064187" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000050738" "00351" "00064222" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000129033" "00351" "00163922" "00006" "Unknown" "65y" "61y-ECG asymmetric septal hypertrophy maximum wall thickness 20 mm, normal systolic (contractile) function, no\r\nevidence of left ventricular dilatation; clinical history recurrent atrial fibrillation, palpitations, dyspnea, presyncope" "" "61y" "" "" "" "" "" "" "familial hypertrophic cardiomyopathy" "0000167743" "00352" "00219204" "02588" "Familial, autosomal recessive" "36y" "Angina pectoris (HP:0001681), palpitations (HP:0001962), Dyspnea HP:0002094, Cardiomegaly HP:0001640, Severely reduced ejection fraction HP:0012666, Increased NT-proBNP level HP:0031185, Increased troponin I level in blood HP:0410173, Atrial fibrillation HP:0005110, (incomplete) right bundle branch block HP:0011712" "" "" "" "" "" "" "" "" "" "0000240460" "04172" "00316714" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000240461" "04172" "00316715" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000240462" "04172" "00316716" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000240463" "04172" "00316717" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000240464" "04172" "00316718" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000241338" "04172" "00317592" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000241339" "04172" "00317593" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000241610" "04172" "00317864" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "0000241611" "04172" "00317865" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "0000241612" "04172" "00317866" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "0000241613" "04172" "00317867" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "0000271602" "00352" "00376394" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016269" "00016147" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000064163" "00064031" "1" "00006" "00006" "2016-04-19 22:01:35" "" "" "SEQ" "DNA" "" "" "0000064200" "00064067" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064277" "00064144" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064320" "00064187" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064355" "00064222" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000164785" "00163922" "1" "00006" "00006" "2018-04-23 13:21:06" "" "" "SEQ" "DNA" "" "gene panel SRI, FKBP1B, CASQ2, PLN, SLN, CALR3, CALM" "0000220276" "00219204" "1" "02588" "02588" "2019-02-08 14:21:45" "" "" "SEQ;Western" "DNA;protein" "blood" "" "0000317896" "00316714" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317897" "00316715" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317898" "00316716" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317899" "00316717" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317900" "00316718" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318774" "00317592" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318775" "00317593" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319046" "00317864" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319047" "00317865" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319048" "00317866" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319049" "00317867" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000373269" "00372041" "1" "00006" "00006" "2021-05-06 09:22:33" "" "" "SEQ-NG" "DNA" "" "WES" "0000377599" "00376394" "1" "00006" "00006" "2021-06-22 13:15:11" "" "" "SEQ-NG" "DNA" "" "58-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000016269" "PLN" "0000064163" "PLN" "0000064200" "TTN" "0000064277" "TTN" "0000064320" "TTN" "0000064355" "TTN" "0000164785" "PLN" "0000220276" "PLN" "0000317896" "PLN" "0000317897" "PLN" "0000317898" "PLN" "0000317899" "PLN" "0000317900" "PLN" "0000318774" "PLN" "0000318775" "PLN" "0000319046" "PLN" "0000319047" "PLN" "0000319048" "PLN" "0000319049" "PLN" "0000377599" "PLN" ## 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 = 63 "{{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}}" "0000036030" "1" "90" "6" "118880124" "118880126" "del" "0" "00668" "PLN_000020" "g.118880124_118880126del" "" "{PMID:Vrijenhoek 2015:25626705}, {DOI:Vrijenhoek 2015:10.1038/ejhg.2014.279}" "" "" "" "Germline" "?" "" "0" "" "" "g.118558961_118558963del" "" "pathogenic" "" "0000095126" "1" "50" "6" "118880124" "118880126" "del" "0" "00006" "PLN_000020" "g.118880124_118880126del" "" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "" "40_42delAGA" "" "Germline" "" "" "0" "" "" "g.118558961_118558963del" "" "VUS" "" "0000095185" "0" "50" "6" "118880110" "118880110" "subst" "0.00000813709" "00006" "PLN_000021" "g.118880110G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_002667:c.G26A" "" "Germline" "" "" "0" "" "" "g.118558947G>A" "" "VUS" "" "0000095473" "0" "50" "6" "118880236" "118880236" "subst" "0" "00006" "PLN_000022" "g.118880236T>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_002667:c.T152C" "" "Germline" "" "" "0" "" "" "g.118559073T>C" "" "VUS" "" "0000095620" "0" "50" "6" "118880157" "118880157" "subst" "0.0000284618" "00006" "PLN_000024" "g.118880157C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_002667:c.C73T" "" "Germline" "" "" "0" "" "" "g.118558994C>T" "" "VUS" "" "0000095731" "0" "50" "6" "118880137" "118880137" "subst" "0" "00006" "PLN_000023" "g.118880137T>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_002667:c.T53C" "" "Germline" "" "" "0" "" "" "g.118558974T>C" "" "VUS" "" "0000293964" "0" "10" "6" "118880111" "118880111" "subst" "0.000418982" "02330" "PLN_000027" "g.118880111C>T" "" "" "" "CEP85L(NM_001042475.3):c.1020+6581G>A, PLN(NM_002667.3):c.27C>T (p.R9=), PLN(NM_002667.5):c.27C>T (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118558948C>T" "" "benign" "" "0000293966" "0" "90" "6" "118880124" "118880126" "del" "0" "02330" "PLN_000020" "g.118880124_118880126del" "" "" "" "PLN(NM_002667.3):c.40_42delAGA (p.R14del), PLN(NM_002667.5):c.40_42delAGA (p.R14del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118558961_118558963del" "" "pathogenic" "" "0000293967" "0" "90" "6" "118880157" "118880157" "subst" "0.0000284618" "02330" "PLN_000024" "g.118880157C>T" "" "" "" "PLN(NM_002667.5):c.73C>T (p.R25C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118558994C>T" "" "pathogenic" "" "0000297130" "0" "30" "6" "118880111" "118880111" "subst" "0.000418982" "02325" "PLN_000027" "g.118880111C>T" "" "" "" "CEP85L(NM_001042475.3):c.1020+6581G>A, PLN(NM_002667.3):c.27C>T (p.R9=), PLN(NM_002667.5):c.27C>T (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118558948C>T" "" "likely benign" "" "0000297131" "0" "90" "6" "118880124" "118880126" "del" "0" "02325" "PLN_000020" "g.118880124_118880126del" "" "" "" "PLN(NM_002667.3):c.40_42delAGA (p.R14del), PLN(NM_002667.5):c.40_42delAGA (p.R14del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118558961_118558963del" "" "pathogenic" "" "0000301041" "0" "10" "6" "118880029" "118880029" "subst" "0" "02326" "PLN_000025" "g.118880029C>T" "" "" "" "PLN(NM_002667.3):c.-56C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118558866C>T" "" "benign" "" "0000301042" "0" "90" "6" "118880124" "118880126" "del" "0" "02326" "PLN_000028" "g.118880124_118880126del" "" "" "" "PLN(NM_002667.3):c.40_42delAGA (p.R14del), PLN(NM_002667.5):c.40_42delAGA (p.R14del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118558961_118558963del" "" "pathogenic" "" "0000305911" "0" "50" "6" "118880263" "118880263" "subst" "0" "01943" "PLN_000030" "g.118880263G>C" "" "" "" "PLN(NM_002667.3):c.*20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118559100G>C" "" "VUS" "" "0000305912" "0" "10" "6" "118880266" "118880266" "subst" "0" "01943" "PLN_000031" "g.118880266C>A" "" "" "" "PLN(NM_002667.3):c.*23C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118559103C>A" "" "benign" "" "0000305913" "0" "50" "6" "118880239" "118880239" "subst" "0" "01943" "PLN_000029" "g.118880239T>C" "" "" "" "PLN(NM_002667.3):c.155T>C (p.L52P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118559076T>C" "" "VUS" "" "0000305914" "0" "90" "6" "118880109" "118880109" "subst" "0" "01943" "PLN_000026" "g.118880109C>T" "" "" "" "PLN(NM_002667.3):c.25C>T (p.R9C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118558946C>T" "" "pathogenic" "" "0000305916" "0" "90" "6" "118880124" "118880126" "del" "0" "01943" "PLN_000020" "g.118880124_118880126del" "" "" "" "PLN(NM_002667.3):c.40_42delAGA (p.R14del), PLN(NM_002667.5):c.40_42delAGA (p.R14del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118558961_118558963del" "" "pathogenic" "" "0000368391" "0" "90" "6" "118880200" "118880200" "subst" "0.0000162614" "00006" "PLN_000032" "g.118880200T>G" "" "{PMID:Chiu 2007:17655857}" "" "" "" "Germline" "" "" "0" "" "" "g.118559037T>G" "" "pathogenic" "" "0000455229" "3" "70" "6" "118880088" "118880088" "subst" "0" "02588" "PLN_000033" "g.118880088G>T" "" "{PMID:Li 2018:30638982}" "?" "" "Proband is homozygous for given variant; unaffected carrier father (66y), mother (64y), daughter (12y), elder sister (42y) and elder brother (40y) are all heterozygous.\r\nVariant not found in 800 control subjects." "Germline" "yes" "" "0" "" "" "g.118558925G>T" "" "pathogenic" "" "0000527001" "0" "30" "6" "118803091" "118803091" "subst" "0.0207753" "01804" "PLN_000034" "g.118803091C>G" "" "" "" "CEP85L(NM_001042475.2):c.1596G>C (p.(Gln532His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118481928C>G" "" "likely benign" "" "0000527003" "0" "10" "6" "118869503" "118869503" "subst" "0" "01943" "PLN_000036" "g.118869503G>A" "" "" "" "PLN(NM_002667.3):c.-150G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118548340G>A" "" "benign" "" "0000527004" "0" "30" "6" "118879865" "118879865" "subst" "0" "01943" "PLN_000037" "g.118879865A>G" "" "" "" "PLN(NM_002667.3):c.-97-123A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558702A>G" "" "likely benign" "" "0000527005" "0" "30" "6" "118880024" "118880024" "subst" "0" "02327" "PLN_000038" "g.118880024G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558861G>C" "" "likely benign" "" "0000527006" "0" "30" "6" "118880029" "118880029" "subst" "0" "02327" "PLN_000025" "g.118880029C>T" "" "" "" "PLN(NM_002667.3):c.-56C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558866C>T" "" "likely benign" "" "0000527007" "0" "50" "6" "118880097" "118880097" "subst" "0" "01943" "PLN_000039" "g.118880097C>G" "" "" "" "PLN(NM_002667.3):c.13C>G (p.Q5E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558934C>G" "" "VUS" "" "0000527008" "0" "90" "6" "118880109" "118880109" "subst" "0" "02327" "PLN_000026" "g.118880109C>T" "" "" "" "PLN(NM_002667.3):c.25C>T (p.R9C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558946C>T" "" "pathogenic" "" "0000527009" "0" "70" "6" "118880110" "118880110" "subst" "0.00000813709" "02326" "PLN_000021" "g.118880110G>A" "" "" "" "PLN(NM_002667.3):c.26G>A (p.R9H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558947G>A" "" "likely pathogenic" "" "0000527010" "0" "30" "6" "118880111" "118880111" "subst" "0.000418982" "02327" "PLN_000027" "g.118880111C>T" "" "" "" "CEP85L(NM_001042475.3):c.1020+6581G>A, PLN(NM_002667.3):c.27C>T (p.R9=), PLN(NM_002667.5):c.27C>T (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558948C>T" "" "likely benign" "" "0000527011" "0" "30" "6" "118880111" "118880111" "subst" "0.000418982" "02326" "PLN_000027" "g.118880111C>T" "" "" "" "CEP85L(NM_001042475.3):c.1020+6581G>A, PLN(NM_002667.3):c.27C>T (p.R9=), PLN(NM_002667.5):c.27C>T (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558948C>T" "" "likely benign" "" "0000527012" "0" "50" "6" "118880233" "118880233" "subst" "0" "02330" "PLN_000040" "g.118880233T>C" "" "" "" "PLN(NM_002667.5):c.149T>C (p.M50T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118559070T>C" "" "VUS" "" "0000527013" "0" "70" "6" "118880242" "118880242" "subst" "0" "02327" "PLN_000041" "g.118880242G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118559079G>T" "" "likely pathogenic" "" "0000527014" "0" "30" "6" "118880472" "118880472" "subst" "0" "02327" "PLN_000042" "g.118880472T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118559309T>C" "" "likely benign" "" "0000527015" "0" "30" "6" "118880573" "118880573" "subst" "0" "02327" "PLN_000043" "g.118880573C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118559410C>G" "" "likely benign" "" "0000527016" "0" "10" "6" "118880640" "118880640" "subst" "0" "02327" "PLN_000044" "g.118880640T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118559477T>G" "" "benign" "" "0000527017" "0" "30" "6" "118881038" "118881038" "subst" "0" "02327" "PLN_000045" "g.118881038T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118559875T>A" "" "likely benign" "" "0000527018" "0" "30" "6" "118881469" "118881469" "subst" "0" "02327" "PLN_000046" "g.118881469G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118560306G>A" "" "likely benign" "" "0000527019" "0" "30" "6" "118881486" "118881486" "subst" "0" "01943" "PLN_000047" "g.118881486C>T" "" "" "" "PLN(NM_002667.3):c.*1243C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118560323C>T" "" "likely benign" "" "0000527020" "0" "30" "6" "118881486" "118881486" "subst" "0" "02327" "PLN_000047" "g.118881486C>T" "" "" "" "PLN(NM_002667.3):c.*1243C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118560323C>T" "" "likely benign" "" "0000527021" "0" "30" "6" "118881522" "118881522" "subst" "0" "01943" "PLN_000048" "g.118881522G>A" "" "" "" "PLN(NM_002667.3):c.*1279G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118560359G>A" "" "likely benign" "" "0000527022" "0" "30" "6" "118881522" "118881522" "subst" "0" "02327" "PLN_000048" "g.118881522G>A" "" "" "" "PLN(NM_002667.3):c.*1279G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118560359G>A" "" "likely benign" "" "0000609956" "0" "30" "6" "118879815" "118879824" "del" "0" "01943" "PLN_000049" "g.118879815_118879824del" "" "" "" "PLN(NM_002667.3):c.-97-173_-97-164delCACACACACA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558652_118558661del" "" "likely benign" "" "0000609957" "0" "10" "6" "118879823" "118879824" "dup" "0" "01943" "PLN_000050" "g.118879823_118879824dup" "" "" "" "PLN(NM_002667.3):c.-97-166_-97-165dupAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558660_118558661dup" "" "benign" "" "0000609958" "0" "90" "6" "118880110" "118880110" "subst" "0.00000813709" "02327" "PLN_000021" "g.118880110G>A" "" "" "" "PLN(NM_002667.3):c.26G>A (p.R9H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558947G>A" "" "pathogenic" "" "0000621622" "0" "30" "6" "118880029" "118880029" "subst" "0" "01943" "PLN_000025" "g.118880029C>T" "" "" "" "PLN(NM_002667.3):c.-56C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118558866C>T" "" "likely benign" "" "0000655473" "0" "90" "6" "118880200" "118880200" "subst" "0.0000162614" "02325" "PLN_000032" "g.118880200T>G" "" "" "" "PLN(NM_002667.5):c.116T>G (p.L39*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118559037T>G" "" "pathogenic" "" "0000655474" "0" "30" "6" "118881580" "118881580" "subst" "0" "01943" "PLN_000051" "g.118881580G>A" "" "" "" "PLN(NM_002667.3):c.*1337G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.118560417G>A" "" "likely benign" "" "0000700502" "0" "50" "6" "118879986" "118879986" "subst" "0" "00006" "PLN_000052" "g.118879986A>T" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.118558823A>T" "" "VUS" "" "0000700503" "0" "50" "6" "118880130" "118880130" "subst" "0" "00006" "PLN_000055" "g.118880130T>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.118558967T>C" "" "VUS" "" "0000700504" "0" "50" "6" "118880147" "118880148" "dup" "0" "00006" "PLN_000057" "g.118880147_118880148dup" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.118558984_118558985dup" "" "VUS" "" "0000700505" "0" "70" "6" "118880205" "118880205" "subst" "0" "00006" "PLN_000058" "g.118880205T>A" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.118559042T>A" "" "likely pathogenic" "" "0000700506" "0" "50" "6" "118880222" "118880222" "dup" "0" "00006" "PLN_000059" "g.118880222dup" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.118559059dup" "" "VUS" "" "0000701380" "0" "90" "6" "118880200" "118880200" "subst" "0.0000162614" "00006" "PLN_000032" "g.118880200T>G" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.118559037T>G" "" "pathogenic" "" "0000701381" "0" "50" "6" "118880236" "118880236" "subst" "0" "00006" "PLN_000022" "g.118880236T>C" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.118559073T>C" "" "VUS" "" "0000701652" "0" "50" "6" "118880121" "118880121" "dup" "0" "00006" "PLN_000053" "g.118880121dup" "1/740 cases" "{PMID:Walsh 2017:27532257}" "" "37dupA" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.118558958dup" "" "VUS" "" "0000701653" "0" "90" "6" "118880124" "118880126" "del" "0" "00006" "PLN_000020" "g.118880124_118880126del" "1/740 cases" "{PMID:Walsh 2017:27532257}" "" "40_42delAGA" "" "Germline" "" "" "0" "" "" "g.118558961_118558963del" "" "pathogenic" "" "0000701654" "0" "50" "6" "118880127" "118880127" "subst" "0" "00006" "PLN_000054" "g.118880127G>A" "1/740 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.118558964G>A" "" "VUS" "" "0000701655" "0" "50" "6" "118880145" "118880145" "subst" "0.0000365931" "00006" "PLN_000056" "g.118880145C>A" "1/740 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.118558982C>A" "" "VUS" "" "0000783238" "0" "50" "6" "118832413" "118953777" "dup" "0" "00006" "PLN_000060" "g.118832413_118953777dup" "" "{PMID:Singer 2021:32973354}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000790004" "1" "90" "6" "118880124" "118880126" "del" "0" "00006" "PLN_000020" "g.118880124_118880126del" "" "{PMID:Nguyen 2021:34011823}" "" "" "ACMG PS3 PS4-M PM2 PM4 PP1 PP5; no genotypes reported" "Germline" "" "" "0" "" "" "g.118558961_118558963del" "" "pathogenic" "" "0000802282" "0" "90" "6" "118880200" "118880200" "subst" "0.0000162614" "02330" "PLN_000032" "g.118880200T>G" "" "" "" "PLN(NM_002667.5):c.116T>G (p.L39*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851042" "0" "30" "6" "118879979" "118879979" "subst" "0" "01943" "PLN_000061" "g.118879979A>G" "" "" "" "PLN(NM_002667.3):c.-97-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912398" "0" "70" "6" "118880118" "118880118" "dup" "0" "02330" "PLN_000062" "g.118880118dup" "" "" "" "PLN(NM_002667.5):c.34dupA (p.I12Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 PLN ## Count = 63 "{{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}}" "0000036030" "00016371" "90" "40" "0" "42" "0" "c.40_42del" "r.(?)" "p.(Arg14del)" "2" "0000095126" "00016371" "50" "40" "0" "42" "0" "c.40_42del" "r.(?)" "p.(Arg14del)" "2" "0000095185" "00016371" "50" "26" "0" "26" "0" "c.26G>A" "r.(?)" "p.(Arg9His)" "2" "0000095473" "00016371" "50" "152" "0" "152" "0" "c.152T>C" "r.(?)" "p.(Leu51Pro)" "2" "0000095620" "00016371" "50" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Arg25Cys)" "2" "0000095731" "00016371" "50" "53" "0" "53" "0" "c.53T>C" "r.(?)" "p.(Ile18Thr)" "2" "0000293964" "00016371" "10" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Arg9=)" "" "0000293966" "00016371" "90" "40" "0" "42" "0" "c.40_42del" "r.(?)" "p.(Arg14del)" "" "0000293967" "00016371" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Arg25Cys)" "" "0000297130" "00016371" "30" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Arg9=)" "" "0000297131" "00016371" "90" "40" "0" "42" "0" "c.40_42del" "r.(?)" "p.(Arg14del)" "" "0000301041" "00016371" "10" "-56" "0" "-56" "0" "c.-56C>T" "r.(?)" "p.(=)" "" "0000301042" "00016371" "90" "40" "0" "42" "0" "c.40_42del" "r.(?)" "p.(Arg14del)" "" "0000305911" "00016371" "50" "179" "0" "179" "0" "c.*20G>C" "r.(=)" "p.(=)" "" "0000305912" "00016371" "10" "182" "0" "182" "0" "c.*23C>A" "r.(=)" "p.(=)" "" "0000305913" "00016371" "50" "155" "0" "155" "0" "c.155T>C" "r.(?)" "p.(Leu52Pro)" "" "0000305914" "00016371" "90" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Arg9Cys)" "" "0000305916" "00016371" "90" "40" "0" "42" "0" "c.40_42del" "r.(?)" "p.(Arg14del)" "" "0000368391" "00016371" "90" "116" "0" "116" "0" "c.116T>G" "r.(?)" "p.(Leu39*)" "2" "0000455229" "00016371" "70" "4" "0" "4" "0" "c.4G>T" "r.(?)" "p.(Glu2*)" "1" "0000527001" "00016371" "30" "-66562" "0" "-66562" "0" "c.-66562C>G" "r.(?)" "p.(=)" "" "0000527003" "00016371" "10" "-150" "0" "-150" "0" "c.-150G>A" "r.(?)" "p.(=)" "" "0000527004" "00016371" "30" "-97" "-123" "-97" "-123" "c.-97-123A>G" "r.(=)" "p.(=)" "" "0000527005" "00016371" "30" "-61" "0" "-61" "0" "c.-61G>C" "r.(?)" "p.(=)" "" "0000527006" "00016371" "30" "-56" "0" "-56" "0" "c.-56C>T" "r.(?)" "p.(=)" "" "0000527007" "00016371" "50" "13" "0" "13" "0" "c.13C>G" "r.(?)" "p.(Gln5Glu)" "" "0000527008" "00016371" "90" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Arg9Cys)" "" "0000527009" "00016371" "70" "26" "0" "26" "0" "c.26G>A" "r.(?)" "p.(Arg9His)" "" "0000527010" "00016371" "30" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Arg9=)" "" "0000527011" "00016371" "30" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Arg9=)" "" "0000527012" "00016371" "50" "149" "0" "149" "0" "c.149T>C" "r.(?)" "p.(Met50Thr)" "" "0000527013" "00016371" "70" "158" "0" "158" "0" "c.158G>T" "r.(?)" "p.(Ter53LeuextTer29)" "" "0000527014" "00016371" "30" "388" "0" "388" "0" "c.*229T>C" "r.(=)" "p.(=)" "" "0000527015" "00016371" "30" "489" "0" "489" "0" "c.*330C>G" "r.(=)" "p.(=)" "" "0000527016" "00016371" "10" "556" "0" "556" "0" "c.*397T>G" "r.(=)" "p.(=)" "" "0000527017" "00016371" "30" "954" "0" "954" "0" "c.*795T>A" "r.(=)" "p.(=)" "" "0000527018" "00016371" "30" "1385" "0" "1385" "0" "c.*1226G>A" "r.(=)" "p.(=)" "" "0000527019" "00016371" "30" "1402" "0" "1402" "0" "c.*1243C>T" "r.(=)" "p.(=)" "" "0000527020" "00016371" "30" "1402" "0" "1402" "0" "c.*1243C>T" "r.(=)" "p.(=)" "" "0000527021" "00016371" "30" "1438" "0" "1438" "0" "c.*1279G>A" "r.(=)" "p.(=)" "" "0000527022" "00016371" "30" "1438" "0" "1438" "0" "c.*1279G>A" "r.(=)" "p.(=)" "" "0000609956" "00016371" "30" "-97" "-173" "-97" "-164" "c.-97-173_-97-164del" "r.(=)" "p.(=)" "" "0000609957" "00016371" "10" "-97" "-165" "-97" "-164" "c.-97-165_-97-164dup" "r.(=)" "p.(=)" "" "0000609958" "00016371" "90" "26" "0" "26" "0" "c.26G>A" "r.(?)" "p.(Arg9His)" "" "0000621622" "00016371" "30" "-56" "0" "-56" "0" "c.-56C>T" "r.(?)" "p.(=)" "" "0000655473" "00016371" "90" "116" "0" "116" "0" "c.116T>G" "r.(?)" "p.(Leu39Ter)" "" "0000655474" "00016371" "30" "1496" "0" "1496" "0" "c.*1337G>A" "r.(=)" "p.(=)" "" "0000700502" "00016371" "50" "-97" "-2" "-97" "-2" "c.-97-2A>T" "r.spl" "p.?" "" "0000700503" "00016371" "50" "46" "0" "46" "0" "c.46T>C" "r.(?)" "p.(Ser16Pro)" "" "0000700504" "00016371" "50" "63" "0" "64" "0" "c.63_64dup" "r.(?)" "p.(Gln22Leufs*19)" "" "0000700505" "00016371" "70" "121" "0" "121" "0" "c.121T>A" "r.(?)" "p.(Cys41Ser)" "" "0000700506" "00016371" "50" "138" "0" "138" "0" "c.138dup" "r.(?)" "p.(Ile47Tyrfs*14)" "" "0000701380" "00016371" "90" "116" "0" "116" "0" "c.116T>G" "r.(?)" "p.(Leu39*)" "" "0000701381" "00016371" "50" "152" "0" "152" "0" "c.152T>C" "r.(?)" "p.(Leu51Pro)" "" "0000701652" "00016371" "50" "37" "0" "37" "0" "c.37dup" "r.(?)" "p.(Arg13Lysfs*7)" "" "0000701653" "00016371" "90" "40" "0" "42" "0" "c.40_42del" "r.(?)" "p.(Arg14del)" "" "0000701654" "00016371" "50" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Ala15Thr)" "" "0000701655" "00016371" "50" "61" "0" "61" "0" "c.61C>A" "r.(?)" "p.(Pro21Thr)" "" "0000783238" "00016371" "50" "0" "0" "0" "0" "c.-211_*1344{2}" "r.?" "p.?" "" "0000790004" "00016371" "90" "40" "0" "42" "0" "c.40_42del" "r.(?)" "p.(Arg14del)" "" "0000802282" "00016371" "90" "116" "0" "116" "0" "c.116T>G" "r.(?)" "p.(Leu39Ter)" "" "0000851042" "00016371" "30" "-97" "-9" "-97" "-9" "c.-97-9A>G" "r.(=)" "p.(=)" "" "0000912398" "00016371" "70" "34" "0" "34" "0" "c.34dup" "r.(?)" "p.(Ile12Asnfs*8)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000016269" "0000036030" "0000064163" "0000095126" "0000064200" "0000095185" "0000064277" "0000095473" "0000064320" "0000095620" "0000064355" "0000095731" "0000164785" "0000368391" "0000220276" "0000455229" "0000317896" "0000700502" "0000317897" "0000700503" "0000317898" "0000700504" "0000317899" "0000700505" "0000317900" "0000700506" "0000318774" "0000701380" "0000318775" "0000701381" "0000319046" "0000701652" "0000319047" "0000701653" "0000319048" "0000701654" "0000319049" "0000701655" "0000373269" "0000783238" "0000377599" "0000790004"