### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ENG) # 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}}" "ENG" "endoglin" "9" "q34.11" "unknown" "NG_009551.1" "UD_132085387644" "" "https://www.LOVD.nl/ENG" "" "1" "3349" "2022" "131195" "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/ENG_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-03 12:00:10" "00006" "2025-05-08 16:25:09" ## 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}}" "00024232" "ENG" "transcript variant 2" "002" "NM_000118.3" "" "NP_000109.1" "" "" "" "-418" "2783" "1878" "130617052" "130577291" "00006" "2017-03-03 11:58:58" "" "" ## 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" "01575" "HHT" "telangiectasia hemorrhagic, hereditary (HHT)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-01-11 15:46:12" "05522" "HHT1" "telangiectasia hemorrhagic, hereditary, type 1 (HHT1, Osler-Rendu-Weber disease)" "AD" "187300" "" "autosomal dominant" "" "00006" "2018-11-23 16:28:57" "00006" "2021-01-11 15:46:16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ENG" "01575" "ENG" "05522" ## 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}}" "00035679" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035680" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035681" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035682" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035683" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035684" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035685" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035687" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035689" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00100507" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00229539" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00269823" "" "" "" "1" "" "00006" "{PMID:Snellings 2019:31630786}" "" "M" "" "Canada" "57y" "0" "" "" "" "Pat6001-1" "00294740" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294741" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00326415" "" "" "" "1" "" "00006" "{PMID:Wang 2018:30120215}" "2-generation family, 1 affected, non-affected carrier mother" "" "" "China" "" "0" "" "" "Han" "AVM558" "00326427" "" "" "" "1" "" "00006" "{PMID:Wang 2018:30120215}" "" "" "" "China" "" "0" "" "" "" "AVM359" "00419649" "" "" "" "2" "" "02300" "{PMID:Marinakis 2021:34008892}" "2-generation family, patient and similarly affected father" "F" "" "Greece" "" "0" "" "" "" "9062" "00449858" "" "" "" "3" "" "03544" "family, 3 affected (patient, mother, maternal grandfather)" "" "F" "-" "- (not applicable)" "" "0" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00035680" "01575" "00035681" "01575" "00035682" "01575" "00035683" "01575" "00035684" "01575" "00035685" "01575" "00035687" "01575" "00035689" "01575" "00100507" "01575" "00229539" "05522" "00269823" "01575" "00294740" "00198" "00294741" "00198" "00326415" "00198" "00326427" "00198" "00419649" "00198" "00449858" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01575, 05522 ## Count = 14 "{{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}}" "0000078715" "01575" "00100507" "01741" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078717" "01575" "00035680" "01164" "Familial, autosomal dominant" "" "suspected Morbus Osler" "" "" "" "" "" "" "" "" "" "" "" "0000078718" "01575" "00035681" "01164" "Familial, autosomal dominant" "" "suspected Morbus Osler with epistaxis (also familiar), intracranial haemorrhage with 4 arteriovenous malformations" "" "" "" "" "" "" "" "" "" "" "" "0000078719" "01575" "00035682" "01164" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078720" "01575" "00035683" "01164" "Familial, autosomal dominant" "" "suspected Morbus Osler" "" "" "" "" "" "" "" "" "" "" "" "0000078721" "01575" "00035687" "01164" "Familial, autosomal dominant" "" "clinical Morbus Osler" "" "" "" "" "" "" "" "" "" "" "" "0000078722" "01575" "00035685" "01164" "Familial, autosomal dominant" "" "suspected Morbus Osler" "" "" "" "" "" "" "" "" "" "" "" "0000078723" "01575" "00035684" "01164" "Familial, autosomal dominant" "" "suspected Morbus Osler with epistaxis (also familiar), intracranial haemorrhage with 4 arteriovenous malformations" "" "" "" "" "" "" "" "" "" "" "" "0000078724" "01575" "00035689" "01164" "Familial, autosomal dominant" "" "suspected Morbus Osler" "" "" "" "" "" "" "" "" "" "" "" "0000207614" "01575" "00269823" "00006" "Familial, autosomal dominant" "57y" "57y-deceased; recurrent epistaxis, telangiectasia; family history" "" "" "" "" "" "" "" "" "HHT-1" "telangiectasia" "" "0000244876" "00198" "00326415" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "brain arteriovenous malformations" "" "0000244890" "00198" "00326427" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "brain arteriovenous malformations" "" "0000310930" "00198" "00419649" "02300" "Familial, autosomal dominant" "64y" "" "" "" "" "" "" "" "" "" "" "cardio and/or vascular abnormality" "" "0000339005" "00198" "00449858" "03544" "Familial, autosomal dominant" "" "HP:0000228, HP:0001288" "" "" "" "" "" "" "" "" "HHT1" "Rendu Osler" "" ## 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}}" "0000035749" "00035679" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035750" "00035680" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035751" "00035681" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035752" "00035682" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035753" "00035683" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035754" "00035684" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035755" "00035685" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035757" "00035687" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035759" "00035689" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000100915" "00100507" "1" "01741" "01741" "2017-03-02 14:07:44" "" "" "SEQ" "DNA" "" "" "0000230634" "00229539" "1" "01741" "01741" "2019-03-28 15:32:41" "" "" "SEQ" "DNA" "" "" "0000270975" "00269823" "1" "00006" "00006" "2019-12-07 12:29:03" "" "" "SEQ" "DNA" "" "" "0000295908" "00294740" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295909" "00294741" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000327629" "00326415" "1" "00006" "00006" "2021-01-11 17:45:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000327641" "00326427" "1" "00006" "00006" "2021-01-12 13:51:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000420953" "00419649" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451454" "00449858" "1" "03544" "03544" "2024-05-20 10:25:01" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000035749" "ENG" "0000035750" "ENG" "0000035751" "ENG" "0000035752" "ENG" "0000035753" "ENG" "0000035754" "ENG" "0000035755" "ENG" "0000035757" "ENG" "0000035759" "ENG" "0000100915" "ENG" "0000230634" "ENG" "0000270975" "ENG" "0000327629" "ENG" "0000327629" "MAP4K4" "0000327641" "ENG" "0000327641" "SCUBE2" ## 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 = 222 "{{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}}" "0000163306" "0" "90" "9" "130588049" "130588049" "dup" "0" "01741" "ENG_000011" "g.130588049dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.127825770dup" "" "pathogenic" "" "0000163312" "1" "10" "9" "130577499" "130577502" "del" "0" "01164" "ENG_000010" "g.130577499_130577502del" "frequency up to 10%" "" "" "" "" "Germline" "" "rs41514846" "0" "" "" "g.127815220_127815223del" "" "benign" "" "0000163313" "1" "50" "9" "130582199" "130582199" "subst" "3.65453E-5" "01164" "ENG_000004" "g.130582199C>G" "" "" "" "" "Alamut: PolyPhen-2: benign (PSIC:0,01); SIFT und AGVGD: tolerated, C0" "Germline" "" "rs150293362" "0" "" "" "g.127819920C>G" "" "VUS" "" "0000163314" "1" "90" "9" "130587554" "130587554" "del" "0" "01164" "ENG_000006" "g.130587554del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.127825275del" "" "pathogenic" "" "0000163315" "1" "10" "9" "130588091" "130588091" "subst" "0.00874076" "01164" "ENG_000008" "g.130588091C>T" "frequency up to 6%; Mutation Database" "" "" "" "" "Germline" "" "rs41322046" "0" "" "" "g.127825812C>T" "" "benign" "" "0000163316" "1" "90" "9" "130580620" "130580620" "subst" "0" "01164" "ENG_000002" "g.130580620G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.127818341G>A" "" "pathogenic" "" "0000163317" "1" "10" "9" "130616669" "130616669" "subst" "0" "01164" "ENG_000009" "g.130616669T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.127854390T>C" "" "benign" "" "0000163318" "1" "50" "9" "130578312" "130578312" "subst" "0.000218533" "01164" "ENG_000001" "g.130578312C>T" "" "" "" "" "(GTC>ATC); Alamut: moderately conserved, PolyPhen-2: PSIC 0,05; Splice site analysis: Deletion of a SC35 site, creation of a SRp55 site" "Germline" "" "" "0" "" "" "g.127816033C>T" "" "VUS" "" "0000163319" "0" "10" "9" "130616669" "130616669" "subst" "0" "01164" "ENG_000009" "g.130616669T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.127854390T>C" "" "benign" "" "0000163320" "0" "10" "9" "130586554" "130586554" "subst" "0" "01164" "ENG_000005" "g.130586554C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.127824275C>T" "" "benign" "" "0000163321" "1" "90" "9" "130588024" "130588027" "del" "0" "01164" "ENG_000007" "g.130588024_130588027del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.127825745_127825748del" "" "pathogenic" "" "0000163322" "0" "70" "9" "130581903" "130581903" "subst" "0" "01164" "ENG_000003" "g.130581903G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.127819624G>A" "" "pathogenic" "" "0000246790" "0" "30" "9" "130580393" "130580393" "subst" "0.000203678" "02330" "ENG_000085" "g.130580393A>C" "" "" "" "ENG(NM_000118.3):c.1686+6T>G, ENG(NM_000118.4):c.1686+6T>G, ENG(NM_001114753.2):c.1686+6T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818114A>C" "" "likely benign" "" "0000246865" "0" "50" "9" "130592024" "130592024" "subst" "0" "02330" "ENG_000064" "g.130592024A>T" "" "" "" "ENG(NM_000118.3):c.302T>A (p.V101E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127829745A>T" "" "VUS" "" "0000248337" "0" "30" "9" "130580393" "130580393" "subst" "0.000203678" "02325" "ENG_000085" "g.130580393A>C" "" "" "" "ENG(NM_000118.3):c.1686+6T>G, ENG(NM_000118.4):c.1686+6T>G, ENG(NM_001114753.2):c.1686+6T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818114A>C" "" "likely benign" "" "0000250072" "0" "10" "9" "130580393" "130580393" "subst" "0.000203678" "02329" "ENG_000085" "g.130580393A>C" "" "" "" "ENG(NM_000118.3):c.1686+6T>G, ENG(NM_000118.4):c.1686+6T>G, ENG(NM_001114753.2):c.1686+6T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818114A>C" "" "benign" "" "0000252513" "0" "90" "9" "130588809" "130588809" "subst" "0" "02326" "ENG_000108" "g.130588809A>G" "" "" "" "ENG(NM_000118.3):c.503T>C (p.I168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127826530A>G" "" "pathogenic" "" "0000252539" "0" "90" "9" "130587568" "130587568" "subst" "0" "02326" "ENG_000041" "g.130587568A>G" "" "" "" "ENG(NM_000118.3):c.758T>C (p.L253P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825289A>G" "" "pathogenic" "" "0000252553" "0" "90" "9" "130616633" "130616633" "subst" "0" "02326" "ENG_000082" "g.130616633A>C" "" "" "" "ENG(NM_000118.3):c.2T>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127854354A>C" "" "pathogenic" "" "0000252619" "0" "90" "9" "130582177" "130582177" "subst" "0" "02326" "ENG_000020" "g.130582177A>G" "" "" "" "ENG(NM_000118.3):c.1272+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127819898A>G" "" "pathogenic" "" "0000252620" "0" "90" "9" "130586581" "130586581" "subst" "0" "02326" "ENG_000107" "g.130586581A>G" "" "" "" "ENG(NM_000118.3):c.1134+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824302A>G" "" "pathogenic" "" "0000252621" "0" "90" "9" "130587972" "130587972" "subst" "0" "02326" "ENG_000044" "g.130587972A>G" "" "" "" "ENG(NM_000118.3):c.689+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825693A>G" "" "pathogenic" "" "0000252622" "0" "90" "9" "130591964" "130591964" "subst" "0" "02326" "ENG_000109" "g.130591964A>G" "" "" "" "ENG(NM_000118.3):c.360+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127829685A>G" "" "pathogenic" "" "0000252686" "0" "50" "9" "130588809" "130588809" "subst" "0" "02326" "ENG_000055" "g.130588809A>T" "" "" "" "ENG(NM_000118.3):c.503T>A (p.I168N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127826530A>T" "" "VUS" "" "0000252726" "0" "50" "9" "130580616" "130580616" "subst" "4.08657E-6" "02326" "ENG_000093" "g.130580616A>G" "" "" "" "ENG(NM_000118.3):c.1469T>C (p.L490S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818337A>G" "" "VUS" "" "0000252741" "0" "50" "9" "130582210" "130582210" "subst" "0" "02326" "ENG_000021" "g.130582210A>T" "" "" "" "ENG(NM_000118.3):c.1241T>A (p.M414K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127819931A>T" "" "VUS" "" "0000265885" "0" "10" "9" "130586688" "130586688" "subst" "0.0901774" "02330" "ENG_000031" "g.130586688G>A" "" "" "" "ENG(NM_000118.3):c.1029C>T (p.T343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824409G>A" "" "benign" "" "0000265886" "0" "10" "9" "130586657" "130586657" "subst" "0.0161717" "02330" "ENG_000030" "g.130586657G>A" "" "" "" "ENG(NM_000118.2):c.1060C>T (p.(Leu354=)), ENG(NM_000118.3):c.1060C>T (p.L354=), ENG(NM_001114753.2):c.1060C>T (p.L354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824378G>A" "" "benign" "" "0000265887" "0" "10" "9" "130586621" "130586621" "subst" "0.00875889" "02330" "ENG_000027" "g.130586621C>G" "" "" "" "ENG(NM_000118.2):c.1096G>C (p.(Asp366His)), ENG(NM_000118.3):c.1096G>C (p.D366H), ENG(NM_001114753.2):c.1096G>C (p.D366H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824342C>G" "" "benign" "" "0000265888" "0" "30" "9" "130605476" "130605476" "subst" "0" "02330" "ENG_000074" "g.130605476C>T" "" "" "" "ENG(NM_000118.3):c.116G>A (p.R39K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127843197C>T" "" "likely benign" "" "0000265889" "0" "30" "9" "130582260" "130582260" "subst" "0" "02330" "ENG_000106" "g.130582260C>A" "" "" "" "ENG(NM_000118.3):c.1191G>T (p.E397D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127819981C>A" "" "likely benign" "" "0000265890" "0" "30" "9" "130605472" "130605472" "subst" "0.00323665" "02330" "ENG_000073" "g.130605472G>A" "" "" "" "ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127843193G>A" "" "likely benign" "" "0000265891" "0" "30" "9" "130581123" "130581123" "subst" "0.000207256" "02330" "ENG_000098" "g.130581123C>T" "" "" "" "ENG(NM_000118.3):c.1312-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818844C>T" "" "likely benign" "" "0000265892" "0" "10" "9" "130581049" "130581049" "subst" "0.0104235" "02330" "ENG_000096" "g.130581049T>C" "" "" "" "ENG(NM_000118.2):c.1374A>G (p.(Pro458=)), ENG(NM_000118.3):c.1374A>G (p.P458=), ENG(NM_001114753.2):c.1374A>G (p.P458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818770T>C" "" "benign" "" "0000265893" "0" "10" "9" "130580633" "130580633" "subst" "0.00107415" "02330" "ENG_000094" "g.130580633G>A" "" "" "" "ENG(NM_000118.3):c.1452C>T (p.S484=), ENG(NM_001114753.3):c.1452C>T (p.(Ser484=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818354G>A" "" "benign" "" "0000265894" "0" "10" "9" "130616621" "130616621" "subst" "0.0210533" "02330" "ENG_000080" "g.130616621G>A" "" "" "" "ENG(NM_000118.2):c.14C>T (p.(Thr5Met)), ENG(NM_000118.3):c.14C>T (p.T5M), ENG(NM_000118.4):c.14C>T (p.T5M), ENG(NM_001114753.2):c.14C>T (p.T5M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127854342G>A" "" "benign" "" "0000265895" "0" "30" "9" "130580575" "130580575" "subst" "0.00114452" "02330" "ENG_000092" "g.130580575C>T" "" "" "" "ENG(NM_000118.3):c.1510G>A (p.V504M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818296C>T" "" "likely benign" "" "0000265896" "0" "30" "9" "130578315" "130578315" "subst" "4.20073E-6" "02330" "ENG_000017" "g.130578315G>A" "" "" "" "ENG(NM_000118.2):c.1759C>T (p.(Leu587Phe)), ENG(NM_000118.3):c.1759C>T (p.L587F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127816036G>A" "" "likely benign" "" "0000265897" "0" "30" "9" "130578230" "130578230" "subst" "0.00150737" "02330" "ENG_000015" "g.130578230G>A" "" "" "" "ENG(NM_000118.3):c.1844C>T (p.S615L), ENG(NM_001114753.2):c.1844C>T (p.S615L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127815951G>A" "" "likely benign" "" "0000265898" "0" "30" "9" "130577997" "130577997" "subst" "0" "02330" "ENG_000012" "g.130577997G>T" "" "" "" "ENG(NM_001114753.3):c.1941C>A (p.T647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127815718G>T" "" "likely benign" "" "0000265899" "0" "10" "9" "130605385" "130605385" "subst" "0.0923601" "02330" "ENG_000069" "g.130605385C>T" "" "" "" "ENG(NM_000118.3):c.207G>A (p.L69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127843106C>T" "" "benign" "" "0000265900" "0" "30" "9" "130588068" "130588068" "subst" "0.000186471" "02330" "ENG_000047" "g.130588068G>A" "" "" "" "ENG(NM_000118.3):c.595C>T (p.R199C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825789G>A" "" "likely benign" "" "0000265901" "0" "30" "9" "130588036" "130588036" "subst" "9.44332E-6" "02330" "ENG_000046" "g.130588036C>G" "" "" "" "ENG(NM_000118.3):c.627G>C (p.L209F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825757C>G" "" "likely benign" "" "0000265902" "0" "30" "9" "130587116" "130587116" "subst" "8.7042E-5" "02330" "ENG_000036" "g.130587116C>T" "" "" "" "ENG(NM_000118.3):c.954G>A (p.P318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824837C>T" "" "likely benign" "" "0000267829" "0" "30" "9" "130605472" "130605472" "subst" "0.00323665" "02325" "ENG_000073" "g.130605472G>A" "" "" "" "ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127843193G>A" "" "likely benign" "" "0000267830" "0" "10" "9" "130616621" "130616621" "subst" "0.0210533" "02325" "ENG_000080" "g.130616621G>A" "" "" "" "ENG(NM_000118.2):c.14C>T (p.(Thr5Met)), ENG(NM_000118.3):c.14C>T (p.T5M), ENG(NM_000118.4):c.14C>T (p.T5M), ENG(NM_001114753.2):c.14C>T (p.T5M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127854342G>A" "" "benign" "" "0000267831" "0" "30" "9" "130580492" "130580492" "subst" "0" "02325" "ENG_000090" "g.130580492G>A" "" "" "" "ENG(NM_000118.4):c.1593C>T (p.S531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818213G>A" "" "likely benign" "" "0000267832" "0" "30" "9" "130580474" "130580474" "subst" "2.43716E-5" "02325" "ENG_000088" "g.130580474G>A" "" "" "" "ENG(NM_000118.4):c.1611C>T (p.Y537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818195G>A" "" "likely benign" "" "0000268847" "0" "10" "9" "130586657" "130586657" "subst" "0.0161717" "02329" "ENG_000030" "g.130586657G>A" "" "" "" "ENG(NM_000118.2):c.1060C>T (p.(Leu354=)), ENG(NM_000118.3):c.1060C>T (p.L354=), ENG(NM_001114753.2):c.1060C>T (p.L354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824378G>A" "" "benign" "" "0000268848" "0" "30" "9" "130586622" "130586622" "subst" "0.000357337" "02329" "ENG_000028" "g.130586622G>A" "" "" "" "ENG(NM_000118.3):c.1095C>T (p.D365=), ENG(NM_001114753.2):c.1095C>T (p.D365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824343G>A" "" "likely benign" "" "0000268849" "0" "30" "9" "130586621" "130586621" "subst" "0.00875889" "02329" "ENG_000027" "g.130586621C>G" "" "" "" "ENG(NM_000118.2):c.1096G>C (p.(Asp366His)), ENG(NM_000118.3):c.1096G>C (p.D366H), ENG(NM_001114753.2):c.1096G>C (p.D366H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824342C>G" "" "likely benign" "" "0000268850" "0" "30" "9" "130586567" "130586567" "subst" "4.06114E-6" "02329" "ENG_000022" "g.130586567G>A" "" "" "" "ENG(NM_000118.3):c.1134+16C>T, ENG(NM_001114753.2):c.1134+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824288G>A" "" "likely benign" "" "0000268851" "0" "10" "9" "130605472" "130605472" "subst" "0.00323665" "02329" "ENG_000073" "g.130605472G>A" "" "" "" "ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127843193G>A" "" "benign" "" "0000268852" "0" "10" "9" "130581049" "130581049" "subst" "0.0104235" "02329" "ENG_000096" "g.130581049T>C" "" "" "" "ENG(NM_000118.2):c.1374A>G (p.(Pro458=)), ENG(NM_000118.3):c.1374A>G (p.P458=), ENG(NM_001114753.2):c.1374A>G (p.P458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818770T>C" "" "benign" "" "0000268853" "0" "10" "9" "130616621" "130616621" "subst" "0.0210533" "02329" "ENG_000080" "g.130616621G>A" "" "" "" "ENG(NM_000118.2):c.14C>T (p.(Thr5Met)), ENG(NM_000118.3):c.14C>T (p.T5M), ENG(NM_000118.4):c.14C>T (p.T5M), ENG(NM_001114753.2):c.14C>T (p.T5M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127854342G>A" "" "benign" "" "0000268854" "0" "30" "9" "130578230" "130578230" "subst" "0.00150737" "02329" "ENG_000015" "g.130578230G>A" "" "" "" "ENG(NM_000118.3):c.1844C>T (p.S615L), ENG(NM_001114753.2):c.1844C>T (p.S615L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127815951G>A" "" "likely benign" "" "0000268855" "0" "30" "9" "130605533" "130605533" "subst" "5.69467E-5" "02329" "ENG_000076" "g.130605533G>C" "" "" "" "ENG(NM_001114753.2):c.68-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127843254G>C" "" "likely benign" "" "0000268856" "0" "30" "9" "130587618" "130587618" "subst" "1.63606E-5" "02329" "ENG_000042" "g.130587618C>T" "" "" "" "ENG(NM_001114753.2):c.708G>A (p.V236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825339C>T" "" "likely benign" "" "0000271137" "0" "90" "9" "130616644" "130616644" "subst" "0" "02326" "ENG_000084" "g.130616644G>A" "" "" "" "ENG(NM_000118.3):c.-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127854365G>A" "" "pathogenic" "" "0000271138" "0" "10" "9" "130578100" "130578100" "subst" "2.79224E-5" "02326" "ENG_000014" "g.130578100G>A" "" "" "" "ENG(NM_000118.3):c.*96C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127815821G>A" "" "benign" "" "0000271139" "0" "90" "9" "130586639" "130586639" "subst" "0" "02326" "ENG_000029" "g.130586639G>A" "" "" "" "ENG(NM_000118.3):c.1078C>T (p.Q360*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824360G>A" "" "pathogenic" "" "0000271140" "0" "10" "9" "130586621" "130586621" "subst" "0.00875889" "02326" "ENG_000027" "g.130586621C>G" "" "" "" "ENG(NM_000118.2):c.1096G>C (p.(Asp366His)), ENG(NM_000118.3):c.1096G>C (p.D366H), ENG(NM_001114753.2):c.1096G>C (p.D366H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824342C>G" "" "benign" "" "0000271142" "0" "90" "9" "130586582" "130586582" "subst" "0" "02326" "ENG_000023" "g.130586582C>T" "" "" "" "ENG(NM_000118.3):c.1134+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824303C>T" "" "pathogenic" "" "0000271143" "0" "90" "9" "130586583" "130586583" "subst" "0" "02326" "ENG_000024" "g.130586583C>T" "" "" "" "ENG(NM_000118.3):c.1134G>A (p.A378=), ENG(NM_000118.4):c.1134G>A (p.A378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824304C>T" "" "pathogenic" "" "0000271144" "0" "90" "9" "130586583" "130586583" "subst" "0" "02326" "ENG_000025" "g.130586583C>A" "" "" "" "ENG(NM_000118.3):c.1134G>T (p.A378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824304C>A" "" "pathogenic" "" "0000271145" "0" "90" "9" "130582213" "130582213" "subst" "0" "02326" "ENG_000105" "g.130582213C>A" "" "" "" "ENG(NM_000118.3):c.1238G>T (p.G413V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127819934C>A" "" "pathogenic" "" "0000271146" "0" "90" "9" "130582181" "130582181" "subst" "0" "02326" "ENG_000104" "g.130582181C>A" "" "" "" "ENG(NM_000118.3):c.1270G>T (p.E424*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127819902C>A" "" "pathogenic" "" "0000271147" "0" "90" "9" "130582178" "130582178" "subst" "0" "02326" "ENG_000103" "g.130582178C>T" "" "" "" "ENG(NM_000118.3):c.1272+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127819899C>T" "" "pathogenic" "" "0000271148" "0" "90" "9" "130581938" "130581938" "subst" "0" "02326" "ENG_000102" "g.130581938G>C" "" "" "" "ENG(NM_000118.3):c.1274C>G (p.A425G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127819659G>C" "" "pathogenic" "" "0000271149" "0" "10" "9" "130581937" "130581937" "subst" "0" "02326" "ENG_000101" "g.130581937C>G" "" "" "" "ENG(NM_000118.3):c.1275G>C (p.A425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127819658C>G" "" "benign" "" "0000271150" "0" "90" "9" "130581920" "130581920" "subst" "0" "02326" "ENG_000100" "g.130581920G>T" "" "" "" "ENG(NM_000118.3):c.1292C>A (p.S431*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127819641G>T" "" "pathogenic" "" "0000271151" "0" "90" "9" "130581901" "130581901" "subst" "0" "02326" "ENG_000099" "g.130581901C>T" "" "" "" "ENG(NM_000118.3):c.1311G>A (p.R437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127819622C>T" "" "pathogenic" "" "0000271152" "0" "50" "9" "130581107" "130581107" "subst" "0.000121856" "02326" "ENG_000097" "g.130581107T>G" "" "" "" "ENG(NM_000118.3):c.1316A>C (p.K439T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818828T>G" "" "VUS" "" "0000271153" "0" "90" "9" "130581039" "130581039" "subst" "0" "02326" "ENG_000095" "g.130581039G>A" "" "" "" "ENG(NM_000118.3):c.1384C>T (p.Q462*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818760G>A" "" "pathogenic" "" "0000271154" "0" "90" "9" "130605450" "130605450" "subst" "0" "02326" "ENG_000072" "g.130605450G>A" "" "" "" "ENG(NM_000118.3):c.142C>T (p.Q48*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127843171G>A" "" "pathogenic" "" "0000271155" "0" "50" "9" "130616621" "130616621" "subst" "0" "02326" "ENG_000081" "g.130616621G>T" "" "" "" "ENG(NM_000118.3):c.14C>A (p.T5K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127854342G>T" "" "VUS" "" "0000271156" "0" "10" "9" "130616621" "130616621" "subst" "0.0210533" "02326" "ENG_000080" "g.130616621G>A" "" "" "" "ENG(NM_000118.2):c.14C>T (p.(Thr5Met)), ENG(NM_000118.3):c.14C>T (p.T5M), ENG(NM_000118.4):c.14C>T (p.T5M), ENG(NM_001114753.2):c.14C>T (p.T5M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127854342G>A" "" "benign" "" "0000271157" "0" "90" "9" "130605438" "130605438" "subst" "0" "02326" "ENG_000071" "g.130605438C>G" "" "" "" "ENG(NM_000118.3):c.154G>C (p.G52R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127843159C>G" "" "pathogenic" "" "0000271158" "0" "50" "9" "130580499" "130580499" "subst" "0" "02326" "ENG_000091" "g.130580499C>G" "" "" "" "ENG(NM_000118.3):c.1586G>C (p.R529P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818220C>G" "" "VUS" "" "0000271159" "0" "90" "9" "130580474" "130580474" "subst" "0" "02326" "ENG_000089" "g.130580474G>T" "" "" "" "ENG(NM_000118.3):c.1611C>A (p.Y537*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818195G>T" "" "pathogenic" "" "0000271160" "0" "90" "9" "130580407" "130580407" "subst" "0" "02326" "ENG_000087" "g.130580407G>A" "" "" "" "ENG(NM_000118.3):c.1678C>T (p.Q560*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818128G>A" "" "pathogenic" "" "0000271161" "0" "90" "9" "130580401" "130580401" "subst" "0" "02326" "ENG_000086" "g.130580401G>A" "" "" "" "ENG(NM_000118.3):c.1684C>T (p.Q562*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127818122G>A" "" "pathogenic" "" "0000271162" "0" "90" "9" "130579484" "130579484" "subst" "0" "02326" "ENG_000019" "g.130579484T>C" "" "" "" "ENG(NM_000118.3):c.1687-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127817205T>C" "" "pathogenic" "" "0000271163" "0" "50" "9" "130578347" "130578347" "subst" "5.24091E-5" "02326" "ENG_000018" "g.130578347C>T" "" "" "" "ENG(NM_000118.3):c.1742-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127816068C>T" "" "VUS" "" "0000271164" "0" "90" "9" "130578241" "130578241" "subst" "0" "02326" "ENG_000016" "g.130578241C>T" "" "" "" "ENG(NM_000118.3):c.1833G>A (p.W611*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127815962C>T" "" "pathogenic" "" "0000271165" "0" "30" "9" "130578230" "130578230" "subst" "0.00150737" "02326" "ENG_000015" "g.130578230G>A" "" "" "" "ENG(NM_000118.3):c.1844C>T (p.S615L), ENG(NM_001114753.2):c.1844C>T (p.S615L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127815951G>A" "" "likely benign" "" "0000271166" "0" "90" "9" "130616634" "130616634" "subst" "0" "02326" "ENG_000083" "g.130616634T>C" "" "" "" "ENG(NM_000118.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127854355T>C" "" "pathogenic" "" "0000271167" "0" "90" "9" "130592108" "130592108" "subst" "0" "02326" "ENG_000068" "g.130592108T>C" "" "" "" "ENG(NM_000118.3):c.220-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127829829T>C" "" "pathogenic" "" "0000271168" "0" "90" "9" "130592097" "130592097" "subst" "0" "02326" "ENG_000067" "g.130592097G>A" "" "" "" "ENG(NM_000118.3):c.229C>T (p.Q77*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127829818G>A" "" "pathogenic" "" "0000271169" "0" "90" "9" "130592079" "130592079" "subst" "0" "02326" "ENG_000066" "g.130592079G>A" "" "" "" "ENG(NM_000118.3):c.247C>T (p.Q83*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127829800G>A" "" "pathogenic" "" "0000271170" "0" "90" "9" "130592049" "130592049" "subst" "0" "02326" "ENG_000065" "g.130592049G>A" "" "" "" "ENG(NM_000118.3):c.277C>T (p.R93*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127829770G>A" "" "pathogenic" "" "0000271171" "0" "90" "9" "130591998" "130591998" "subst" "0" "02326" "ENG_000063" "g.130591998G>A" "" "" "" "ENG(NM_000118.3):c.328C>T (p.Q110*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127829719G>A" "" "pathogenic" "" "0000271172" "0" "90" "9" "130591965" "130591965" "subst" "0" "02326" "ENG_000061" "g.130591965C>T" "" "" "" "ENG(NM_000118.3):c.360+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127829686C>T" "" "pathogenic" "" "0000271173" "0" "90" "9" "130591961" "130591961" "subst" "0" "02326" "ENG_000059" "g.130591961C>T" "" "" "" "ENG(NM_000118.3):c.360+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127829682C>T" "" "pathogenic" "" "0000271174" "0" "50" "9" "130591961" "130591961" "subst" "0" "02326" "ENG_000060" "g.130591961C>A" "" "" "" "ENG(NM_000118.3):c.360+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127829682C>A" "" "VUS" "" "0000271175" "0" "90" "9" "130591966" "130591966" "subst" "0" "02326" "ENG_000062" "g.130591966G>T" "" "" "" "ENG(NM_000118.3):c.360C>A (p.Y120*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127829687G>T" "" "pathogenic" "" "0000271176" "0" "90" "9" "130588953" "130588953" "subst" "0" "02326" "ENG_000058" "g.130588953T>C" "" "" "" "ENG(NM_000118.3):c.361-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127826674T>C" "" "pathogenic" "" "0000271177" "0" "30" "9" "130588920" "130588920" "subst" "0.00464895" "02326" "ENG_000057" "g.130588920G>A" "" "" "" "ENG(NM_000118.3):c.392C>T (p.P131L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127826641G>A" "" "likely benign" "" "0000271178" "0" "50" "9" "130588837" "130588837" "subst" "0" "02326" "ENG_000056" "g.130588837C>G" "" "" "" "ENG(NM_000118.3):c.475G>C (p.A159P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127826558C>G" "" "VUS" "" "0000271179" "0" "90" "9" "130588801" "130588801" "subst" "0" "02326" "ENG_000054" "g.130588801G>A" "" "" "" "ENG(NM_000118.3):c.511C>T (p.R171*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127826522G>A" "" "pathogenic" "" "0000271180" "0" "90" "9" "130588788" "130588788" "subst" "0" "02326" "ENG_000053" "g.130588788C>A" "" "" "" "ENG(NM_000118.3):c.523+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127826509C>A" "" "pathogenic" "" "0000271181" "0" "90" "9" "130588137" "130588137" "subst" "0" "02326" "ENG_000052" "g.130588137G>A" "" "" "" "ENG(NM_000118.3):c.526C>T (p.Q176*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825858G>A" "" "pathogenic" "" "0000271182" "0" "90" "9" "130588130" "130588130" "subst" "0" "02326" "ENG_000051" "g.130588130G>C" "" "" "" "ENG(NM_000118.3):c.533C>G (p.S178*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825851G>C" "" "pathogenic" "" "0000271183" "0" "90" "9" "130588110" "130588110" "subst" "0" "02326" "ENG_000050" "g.130588110C>A" "" "" "" "ENG(NM_000118.3):c.553G>T (p.E185*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825831C>A" "" "pathogenic" "" "0000271184" "0" "90" "9" "130588101" "130588101" "subst" "0" "02326" "ENG_000049" "g.130588101G>A" "" "" "" "ENG(NM_000118.3):c.562C>T (p.Q188*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825822G>A" "" "pathogenic" "" "0000271185" "0" "50" "9" "130588080" "130588080" "subst" "0" "02326" "ENG_000048" "g.130588080C>T" "" "" "" "ENG(NM_000118.3):c.583G>A (p.E195K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825801C>T" "" "VUS" "" "0000271186" "0" "50" "9" "130588010" "130588010" "subst" "0" "02326" "ENG_000045" "g.130588010G>T" "" "" "" "ENG(NM_000118.3):c.653C>A (p.A218E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825731G>T" "" "VUS" "" "0000271187" "0" "90" "9" "130616567" "130616567" "subst" "0" "02326" "ENG_000079" "g.130616567C>T" "" "" "" "ENG(NM_000118.3):c.67+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127854288C>T" "" "pathogenic" "" "0000271188" "0" "90" "9" "130616565" "130616565" "subst" "0" "02326" "ENG_000078" "g.130616565T>C" "" "" "" "ENG(NM_000118.3):c.67+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127854286T>C" "" "pathogenic" "" "0000271189" "0" "90" "9" "130616563" "130616563" "subst" "0" "02326" "ENG_000077" "g.130616563C>T" "" "" "" "ENG(NM_000118.3):c.67+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127854284C>T" "" "pathogenic" "" "0000271190" "0" "50" "9" "130605527" "130605527" "subst" "0" "02326" "ENG_000075" "g.130605527G>C" "" "" "" "ENG(NM_000118.3):c.68-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127843248G>C" "" "VUS" "" "0000271191" "0" "90" "9" "130587637" "130587637" "subst" "0" "02326" "ENG_000043" "g.130587637C>G" "" "" "" "ENG(NM_000118.3):c.690-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825358C>G" "" "pathogenic" "" "0000271192" "0" "90" "9" "130587562" "130587562" "subst" "0" "02326" "ENG_000040" "g.130587562C>T" "" "" "" "ENG(NM_000118.3):c.764G>A (p.G255D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825283C>T" "" "pathogenic" "" "0000271193" "0" "50" "9" "130587546" "130587546" "subst" "0" "02326" "ENG_000039" "g.130587546G>A" "" "" "" "ENG(NM_000118.3):c.780C>T (p.S260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825267G>A" "" "VUS" "" "0000271194" "0" "50" "9" "130587536" "130587536" "subst" "4.06908E-6" "02326" "ENG_000038" "g.130587536C>T" "" "" "" "ENG(NM_000118.3):c.790G>A (p.D264N), ENG(NM_000118.4):c.790G>A (p.D264N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825257C>T" "" "VUS" "" "0000271195" "0" "90" "9" "130587518" "130587518" "subst" "0" "02326" "ENG_000037" "g.130587518G>A" "" "" "" "ENG(NM_000118.3):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127825239G>A" "" "pathogenic" "" "0000271196" "0" "90" "9" "130587078" "130587078" "subst" "0" "02326" "ENG_000034" "g.130587078C>T" "" "" "" "ENG(NM_000118.3):c.991+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824799C>T" "" "pathogenic" "" "0000271197" "0" "90" "9" "130587079" "130587079" "subst" "0" "02326" "ENG_000035" "g.130587079C>T" "" "" "" "ENG(NM_000118.3):c.991G>A (p.G331S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824800C>T" "" "pathogenic" "" "0000271198" "0" "50" "9" "130586726" "130586726" "subst" "0" "02326" "ENG_000032" "g.130586726C>T" "" "" "" "ENG(NM_000118.3):c.992-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127824447C>T" "" "VUS" "" "0000332796" "0" "30" "9" "130605413" "130605413" "subst" "0.0002965" "01804" "ENG_000070" "g.130605413G>T" "" "" "" "ENG(NM_000118.2):c.179C>A (p.(Ala60Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.127843134G>T" "" "likely benign" "" "0000472200" "0" "90" "9" "130582182" "130582182" "dup" "0" "01741" "ENG_000110" "g.130582182dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.127819903dup" "" "pathogenic" "" "0000536316" "0" "30" "9" "130578006" "130578006" "subst" "0.0282051" "02330" "FPGS_000001" "g.130578006G>A" "" "" "" "ENG(NM_001114753.2):c.1932C>T (p.I644=), ENG(NM_001114753.3):c.1932C>T (p.I644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127815727G>A" "" "likely benign" "" "0000536317" "0" "50" "9" "130578006" "130578006" "subst" "0.0282051" "02326" "FPGS_000001" "g.130578006G>A" "" "" "" "ENG(NM_001114753.2):c.1932C>T (p.I644=), ENG(NM_001114753.3):c.1932C>T (p.I644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127815727G>A" "" "VUS" "" "0000536318" "0" "30" "9" "130578097" "130578102" "dup" "0" "02330" "FPGS_000002" "g.130578097_130578102dup" "" "" "" "ENG(NM_000118.3):c.*103_*108dupGCTCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127815818_127815823dup" "" "likely benign" "" "0000536319" "0" "30" "9" "130578268" "130578268" "subst" "5.95806E-5" "02330" "FPGS_000003" "g.130578268G>A" "" "" "" "ENG(NM_000118.3):c.1806C>T (p.I602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127815989G>A" "" "likely benign" "" "0000536320" "0" "10" "9" "130578280" "130578280" "subst" "0.00828196" "02330" "FPGS_000004" "g.130578280A>G" "" "" "" "ENG(NM_000118.2):c.1794T>C (p.(Gly598=)), ENG(NM_000118.3):c.1794T>C (p.G598=), ENG(NM_001114753.2):c.1794T>C (p.G598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127816001A>G" "" "benign" "" "0000536321" "0" "30" "9" "130578280" "130578280" "subst" "0.00828196" "02326" "FPGS_000004" "g.130578280A>G" "" "" "" "ENG(NM_000118.2):c.1794T>C (p.(Gly598=)), ENG(NM_000118.3):c.1794T>C (p.G598=), ENG(NM_001114753.2):c.1794T>C (p.G598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127816001A>G" "" "likely benign" "" "0000536322" "0" "10" "9" "130578280" "130578280" "subst" "0.00828196" "02329" "FPGS_000004" "g.130578280A>G" "" "" "" "ENG(NM_000118.2):c.1794T>C (p.(Gly598=)), ENG(NM_000118.3):c.1794T>C (p.G598=), ENG(NM_001114753.2):c.1794T>C (p.G598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127816001A>G" "" "benign" "" "0000536323" "0" "10" "9" "130578345" "130578345" "subst" "0.000130787" "02330" "FPGS_000005" "g.130578345G>A" "" "" "" "ENG(NM_000118.3):c.1742-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127816066G>A" "" "benign" "" "0000536324" "0" "30" "9" "130580552" "130580552" "subst" "0.000150496" "02330" "FPGS_000006" "g.130580552C>T" "" "" "" "ENG(NM_000118.3):c.1533G>A (p.A511=), ENG(NM_001114753.2):c.1533G>A (p.A511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127818273C>T" "" "likely benign" "" "0000536325" "0" "30" "9" "130580552" "130580552" "subst" "0.000150496" "02329" "FPGS_000006" "g.130580552C>T" "" "" "" "ENG(NM_000118.3):c.1533G>A (p.A511=), ENG(NM_001114753.2):c.1533G>A (p.A511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127818273C>T" "" "likely benign" "" "0000536326" "0" "30" "9" "130581894" "130581894" "subst" "0" "02330" "ENG_000111" "g.130581894A>G" "" "" "" "ENG(NM_000118.3):c.1311+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127819615A>G" "" "likely benign" "" "0000536327" "0" "30" "9" "130581943" "130581943" "subst" "6.89388E-5" "02330" "ENG_000112" "g.130581943C>T" "" "" "" "ENG(NM_000118.3):c.1273-4G>A, ENG(NM_000118.4):c.1273-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127819664C>T" "" "likely benign" "" "0000536328" "0" "90" "9" "130582319" "130582319" "subst" "0" "02326" "ENG_000113" "g.130582319G>C" "" "" "" "ENG(NM_000118.3):c.1135-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127820040G>C" "" "pathogenic" "" "0000536329" "0" "30" "9" "130586567" "130586567" "subst" "4.06114E-6" "02330" "ENG_000022" "g.130586567G>A" "" "" "" "ENG(NM_000118.3):c.1134+16C>T, ENG(NM_001114753.2):c.1134+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127824288G>A" "" "likely benign" "" "0000536330" "0" "50" "9" "130586600" "130586601" "ins" "0" "02326" "ENG_000114" "g.130586600_130586601insA" "" "" "" "ENG(NM_000118.3):c.1116_1117insT (p.K373*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127824321_127824322insA" "" "VUS" "" "0000536331" "0" "30" "9" "130586676" "130586676" "subst" "8.12401E-6" "02330" "ENG_000115" "g.130586676C>T" "" "" "" "ENG(NM_000118.3):c.1041G>A (p.K347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127824397C>T" "" "likely benign" "" "0000536332" "0" "10" "9" "130587055" "130587060" "dup" "0" "02325" "ENG_000116" "g.130587055_130587060dup" "" "" "" "ENG(NM_000118.4):c.991+18delGinsGCCCCTC, ENG(NM_000118.4):c.991+19_991+24dupCCCCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127824776_127824781dup" "" "benign" "" "0000536333" "0" "90" "9" "130587153" "130587153" "subst" "0" "02326" "ENG_000117" "g.130587153A>G" "" "" "" "ENG(NM_000118.3):c.917T>C (p.L306P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127824874A>G" "" "pathogenic" "" "0000536334" "0" "10" "9" "130587161" "130587161" "subst" "0.00120458" "02330" "ENG_000118" "g.130587161G>A" "" "" "" "ENG(NM_000118.3):c.909C>T (p.A303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127824882G>A" "" "benign" "" "0000536335" "0" "10" "9" "130587498" "130587498" "subst" "0.000236226" "02330" "ENG_000119" "g.130587498C>T" "" "" "" "ENG(NM_000118.3):c.816+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825219C>T" "" "benign" "" "0000536336" "0" "50" "9" "130587536" "130587536" "subst" "4.06908E-6" "02330" "ENG_000038" "g.130587536C>T" "" "" "" "ENG(NM_000118.3):c.790G>A (p.D264N), ENG(NM_000118.4):c.790G>A (p.D264N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825257C>T" "" "VUS" "" "0000536337" "0" "90" "9" "130587545" "130587545" "subst" "0" "02326" "ENG_000120" "g.130587545A>G" "" "" "" "ENG(NM_000118.3):c.781T>C (p.W261R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825266A>G" "" "pathogenic" "" "0000536338" "0" "30" "9" "130587627" "130587627" "subst" "8.1941E-6" "02330" "ENG_000121" "g.130587627C>T" "" "" "" "ENG(NM_000118.3):c.699G>A (p.T233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825348C>T" "" "likely benign" "" "0000536339" "0" "30" "9" "130588027" "130588027" "subst" "9.40583E-6" "02326" "ENG_000122" "g.130588027C>G" "" "" "" "ENG(NM_000118.3):c.636G>C (p.V212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825748C>G" "" "likely benign" "" "0000536340" "0" "10" "9" "130588091" "130588091" "subst" "0.00874076" "02330" "ENG_000008" "g.130588091C>T" "" "" "" "ENG(NM_000118.3):c.572G>A (p.G191D), ENG(NM_000118.4):c.572G>A (p.G191D), ENG(NM_001114753.2):c.572G>A (p.(Gly191Asp), p.G191D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825812C>T" "" "benign" "" "0000536341" "0" "30" "9" "130588091" "130588091" "subst" "0.00874076" "01804" "ENG_000008" "g.130588091C>T" "" "" "" "ENG(NM_000118.3):c.572G>A (p.G191D), ENG(NM_000118.4):c.572G>A (p.G191D), ENG(NM_001114753.2):c.572G>A (p.(Gly191Asp), p.G191D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825812C>T" "" "likely benign" "" "0000536342" "0" "10" "9" "130588091" "130588091" "subst" "0.00874076" "02325" "ENG_000008" "g.130588091C>T" "" "" "" "ENG(NM_000118.3):c.572G>A (p.G191D), ENG(NM_000118.4):c.572G>A (p.G191D), ENG(NM_001114753.2):c.572G>A (p.(Gly191Asp), p.G191D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825812C>T" "" "benign" "" "0000536343" "0" "30" "9" "130588091" "130588091" "subst" "0.00874076" "02326" "ENG_000008" "g.130588091C>T" "" "" "" "ENG(NM_000118.3):c.572G>A (p.G191D), ENG(NM_000118.4):c.572G>A (p.G191D), ENG(NM_001114753.2):c.572G>A (p.(Gly191Asp), p.G191D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825812C>T" "" "likely benign" "" "0000536344" "0" "10" "9" "130588091" "130588091" "subst" "0.00874076" "02329" "ENG_000008" "g.130588091C>T" "" "" "" "ENG(NM_000118.3):c.572G>A (p.G191D), ENG(NM_000118.4):c.572G>A (p.G191D), ENG(NM_001114753.2):c.572G>A (p.(Gly191Asp), p.G191D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825812C>T" "" "benign" "" "0000536345" "0" "10" "9" "130588154" "130588154" "subst" "0.00359548" "02330" "ENG_000123" "g.130588154G>A" "" "" "" "ENG(NM_000118.3):c.524-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825875G>A" "" "benign" "" "0000536346" "0" "90" "9" "130588800" "130588800" "subst" "0" "02326" "ENG_000124" "g.130588800C>G" "" "" "" "ENG(NM_000118.3):c.512G>C (p.R171P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127826521C>G" "" "pathogenic" "" "0000536347" "0" "30" "9" "130588900" "130588900" "subst" "8.12817E-6" "02330" "ENG_000125" "g.130588900G>A" "" "" "" "ENG(NM_000118.3):c.412C>T (p.L138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127826621G>A" "" "likely benign" "" "0000536348" "0" "30" "9" "130588924" "130588924" "subst" "0.000540892" "02330" "ENG_000126" "g.130588924G>A" "" "" "" "ENG(NM_000118.3):c.388C>T (p.P130S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127826645G>A" "" "likely benign" "" "0000536349" "0" "30" "9" "130592004" "130592004" "subst" "0.000130051" "02330" "ENG_000127" "g.130592004G>A" "" "" "" "ENG(NM_000118.3):c.322C>T (p.H108Y), ENG(NM_001114753.2):c.322C>T (p.(His108Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127829725G>A" "" "likely benign" "" "0000536350" "0" "90" "9" "130592079" "130592079" "subst" "0" "02327" "ENG_000066" "g.130592079G>A" "" "" "" "ENG(NM_000118.3):c.247C>T (p.Q83*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127829800G>A" "" "pathogenic" "" "0000536351" "0" "30" "9" "130592092" "130592092" "subst" "0.000235644" "02330" "ENG_000128" "g.130592092C>T" "" "" "" "ENG(NM_000118.3):c.234G>A (p.L78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127829813C>T" "" "likely benign" "" "0000536352" "0" "30" "9" "130592101" "130592101" "subst" "0.000329199" "02330" "ENG_000129" "g.130592101C>T" "" "" "" "ENG(NM_000118.3):c.225G>A (p.P75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127829822C>T" "" "likely benign" "" "0000536353" "0" "90" "9" "130605433" "130605433" "subst" "0" "02326" "ENG_000130" "g.130605433G>T" "" "" "" "ENG(NM_000118.3):c.159C>A (p.C53*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127843154G>T" "" "pathogenic" "" "0000536354" "0" "30" "9" "130616628" "130616628" "subst" "0.000273332" "02330" "ENG_000131" "g.130616628G>A" "" "" "" "ENG(NM_000118.3):c.7C>T (p.R3C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127854349G>A" "" "likely benign" "" "0000611864" "0" "30" "9" "130578201" "130578201" "subst" "3.98621E-5" "02330" "FPGS_000007" "g.130578201G>C" "" "" "" "ENG(NM_000118.3):c.1873C>G (p.Q625E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127815922G>C" "" "likely benign" "" "0000611865" "0" "50" "9" "130578315" "130578315" "subst" "4.20073E-6" "01804" "ENG_000017" "g.130578315G>A" "" "" "" "ENG(NM_000118.2):c.1759C>T (p.(Leu587Phe)), ENG(NM_000118.3):c.1759C>T (p.L587F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127816036G>A" "" "VUS" "" "0000611866" "0" "70" "9" "130581902" "130581902" "subst" "0" "02330" "ENG_000132" "g.130581902C>T" "" "" "" "ENG(NM_000118.3):c.1310G>A (p.R437Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127819623C>T" "" "likely pathogenic" "" "0000611867" "0" "30" "9" "130586621" "130586621" "subst" "0.00875889" "01804" "ENG_000027" "g.130586621C>G" "" "" "" "ENG(NM_000118.2):c.1096G>C (p.(Asp366His)), ENG(NM_000118.3):c.1096G>C (p.D366H), ENG(NM_001114753.2):c.1096G>C (p.D366H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127824342C>G" "" "likely benign" "" "0000611868" "0" "30" "9" "130587593" "130587593" "subst" "0" "02330" "ENG_000134" "g.130587593C>G" "" "" "" "ENG(NM_000118.3):c.733G>C (p.G245R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825314C>G" "" "likely benign" "" "0000611869" "0" "30" "9" "130587653" "130587653" "subst" "2.07099E-5" "02330" "ENG_000135" "g.130587653G>A" "" "" "" "ENG(NM_000118.3):c.690-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825374G>A" "" "likely benign" "" "0000611870" "0" "10" "9" "130588920" "130588920" "subst" "0.00464895" "02330" "ENG_000057" "g.130588920G>A" "" "" "" "ENG(NM_000118.3):c.392C>T (p.P131L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127826641G>A" "" "benign" "" "0000611871" "0" "10" "9" "130605433" "130605433" "subst" "0.00150675" "02330" "ENG_000136" "g.130605433G>A" "" "" "" "ENG(NM_000118.3):c.159C>T (p.C53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127843154G>A" "" "benign" "" "0000611872" "0" "30" "9" "130616643" "130616643" "subst" "0.000548694" "02325" "ENG_000137" "g.130616643C>T" "" "" "" "ENG(NM_000118.3):c.-9G>A, ENG(NM_000118.4):c.-9G>A, ENG(NM_001114753.3):c.-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127854364C>T" "" "likely benign" "" "0000622166" "0" "30" "9" "130616643" "130616643" "subst" "0.000548694" "02330" "ENG_000137" "g.130616643C>T" "" "" "" "ENG(NM_000118.3):c.-9G>A, ENG(NM_000118.4):c.-9G>A, ENG(NM_001114753.3):c.-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127854364C>T" "" "likely benign" "" "0000624804" "1" "90" "9" "130586636" "130586639" "del" "0" "00006" "ENG_000133" "g.130586636_130586639del" "" "{PMID:Snellings 2019:31630786}" "" "1080_1083delGACA" "5/13 telangiectasias have somatic ENG variant" "Germline" "" "" "0" "" "" "g.127824357_127824360del" "" "pathogenic (dominant)" "" "0000652597" "1" "50" "9" "130588023" "130588023" "subst" "9.38905E-5" "03575" "ENG_000138" "g.130588023C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs150932144}" "Germline" "" "rs150932144" "0" "" "" "g.127825744C>T" "" "VUS" "" "0000652598" "1" "30" "9" "130588091" "130588091" "subst" "0.00874076" "03575" "ENG_000008" "g.130588091C>T" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs41322046}" "Germline" "" "rs41322046" "0" "" "" "g.127825812C>T" "" "likely benign" "" "0000656224" "0" "30" "9" "130587229" "130587229" "subst" "1.21939E-5" "02330" "ENG_000139" "g.130587229T>C" "" "" "" "ENG(NM_000118.3):c.841A>G (p.I281V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127824950T>C" "" "likely benign" "" "0000656225" "0" "50" "9" "130587623" "130587623" "subst" "0" "02330" "ENG_000140" "g.130587623T>C" "" "" "" "ENG(NM_000118.3):c.703A>G (p.T235A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825344T>C" "" "VUS" "" "0000656226" "0" "30" "9" "130587655" "130587655" "subst" "2.07357E-5" "02330" "ENG_000141" "g.130587655G>A" "" "" "" "ENG(NM_000118.3):c.690-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127825376G>A" "" "likely benign" "" "0000656227" "0" "30" "9" "130605472" "130605472" "subst" "0.00323665" "01804" "ENG_000073" "g.130605472G>A" "" "" "" "ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127843193G>A" "" "likely benign" "" "0000656228" "0" "30" "9" "130616621" "130616621" "subst" "0.0210533" "01804" "ENG_000080" "g.130616621G>A" "" "" "" "ENG(NM_000118.2):c.14C>T (p.(Thr5Met)), ENG(NM_000118.3):c.14C>T (p.T5M), ENG(NM_000118.4):c.14C>T (p.T5M), ENG(NM_001114753.2):c.14C>T (p.T5M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127854342G>A" "" "likely benign" "" "0000678528" "0" "30" "9" "130580393" "130580393" "subst" "0.000203678" "01943" "ENG_000085" "g.130580393A>C" "" "" "" "ENG(NM_000118.3):c.1686+6T>G, ENG(NM_000118.4):c.1686+6T>G, ENG(NM_001114753.2):c.1686+6T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678529" "0" "30" "9" "130605351" "130605351" "subst" "0.000650634" "02325" "ENG_000142" "g.130605351G>A" "" "" "" "ENG(NM_000118.4):c.219+22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690408" "0" "10" "9" "130578280" "130578280" "subst" "0.00828196" "01804" "FPGS_000004" "g.130578280A>G" "" "" "" "ENG(NM_000118.2):c.1794T>C (p.(Gly598=)), ENG(NM_000118.3):c.1794T>C (p.G598=), ENG(NM_001114753.2):c.1794T>C (p.G598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690409" "0" "30" "9" "130578312" "130578312" "subst" "0.000218533" "02330" "ENG_000001" "g.130578312C>T" "" "" "" "ENG(NM_000118.3):c.1762G>A (p.V588I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690410" "0" "30" "9" "130587640" "130587641" "dup" "0" "01943" "ENG_000143" "g.130587640_130587641dup" "" "" "" "ENG(NM_000118.3):c.690-4_690-3dupGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690411" "0" "50" "9" "130588080" "130588080" "subst" "0" "02330" "ENG_000048" "g.130588080C>T" "" "" "" "ENG(NM_000118.3):c.583G>A (p.E195K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690412" "0" "30" "9" "130605472" "130605472" "subst" "0.00323665" "01943" "ENG_000073" "g.130605472G>A" "" "" "" "ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000711408" "21" "90" "9" "130587150" "130587150" "dup" "0" "00006" "ENG_000144" "g.130587150dup" "" "{PMID:Wang 2018:30120215}" "" "920dupA" "variant classified as dominant but carrier mother unaffected" "Germline" "" "" "0" "" "" "" "" "pathogenic (!)" "" "0000711450" "21" "50" "9" "130588074" "130588074" "subst" "0" "00006" "ENG_000145" "g.130588074G>A" "" "{PMID:Wang 2018:30120215}" "" "" "" "Germline" "" "" "0" "" "" "g.127825795G>A" "" "VUS" "" "0000722274" "0" "90" "9" "130616567" "130616567" "subst" "0" "02330" "ENG_000079" "g.130616567C>T" "" "" "" "ENG(NM_000118.3):c.67+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803880" "0" "50" "9" "130578071" "130578071" "subst" "0" "02325" "FPGS_000008" "g.130578071G>A" "" "" "" "ENG(NM_000118.4):c.*125C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803881" "0" "30" "9" "130581004" "130581004" "subst" "0.000901581" "01943" "FPGS_000009" "g.130581004G>A" "" "" "" "ENG(NM_000118.3):c.1419C>T (p.S473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803882" "0" "50" "9" "130587628" "130587628" "subst" "2.86798E-5" "01943" "ENG_000146" "g.130587628G>A" "" "" "" "ENG(NM_000118.3):c.698C>T (p.T233M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861398" "0" "30" "9" "130581049" "130581049" "subst" "0.0104235" "01804" "ENG_000096" "g.130581049T>C" "" "" "" "ENG(NM_000118.2):c.1374A>G (p.(Pro458=)), ENG(NM_000118.3):c.1374A>G (p.P458=), ENG(NM_001114753.2):c.1374A>G (p.P458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861399" "0" "10" "9" "130586657" "130586657" "subst" "0.0161717" "01804" "ENG_000030" "g.130586657G>A" "" "" "" "ENG(NM_000118.2):c.1060C>T (p.(Leu354=)), ENG(NM_000118.3):c.1060C>T (p.L354=), ENG(NM_001114753.2):c.1060C>T (p.L354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861400" "0" "30" "9" "130587656" "130587656" "del" "0" "02326" "ENG_000147" "g.130587656del" "" "" "" "ENG(NM_000118.3):c.690-19delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881312" "11" "70" "9" "130592030" "130592030" "subst" "0" "02300" "ENG_000148" "g.130592030A>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP1, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.127829751A>T" "" "likely pathogenic (dominant)" "ACMG" "0000888629" "0" "30" "9" "130581943" "130581943" "subst" "6.89388E-5" "02325" "ENG_000112" "g.130581943C>T" "" "" "" "ENG(NM_000118.3):c.1273-4G>A, ENG(NM_000118.4):c.1273-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888630" "0" "30" "9" "130586698" "130586698" "subst" "2.84412E-5" "02330" "ENG_000149" "g.130586698G>A" "" "" "" "ENG(NM_000118.3):c.1019C>T (p.P340L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888631" "0" "30" "9" "130587621" "130587621" "subst" "0" "02325" "ENG_000150" "g.130587621C>G" "" "" "" "ENG(NM_000118.4):c.705G>C (p.T235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888632" "0" "30" "9" "130588919" "130588919" "subst" "2.43998E-5" "02325" "ENG_000151" "g.130588919C>G" "" "" "" "ENG(NM_000118.4):c.393G>C (p.P131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888633" "0" "30" "9" "130616587" "130616587" "subst" "4.8589E-6" "02330" "ENG_000152" "g.130616587G>C" "" "" "" "ENG(NM_000118.3):c.48C>G (p.S16R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913084" "0" "50" "9" "130578062" "130578062" "subst" "2.11437E-5" "02326" "FPGS_000010" "g.130578062C>T" "" "" "" "ENG(NM_001114753.2):c.1876G>A (p.V626M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913085" "0" "30" "9" "130580651" "130580651" "subst" "4.10988E-6" "02326" "FPGS_000011" "g.130580651T>A" "" "" "" "ENG(NM_000118.3):c.1434A>T (p.R478S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929536" "0" "30" "9" "130592004" "130592004" "subst" "0.000130051" "02326" "ENG_000127" "g.130592004G>A" "" "" "" "ENG(NM_000118.3):c.322C>T (p.H108Y), ENG(NM_001114753.2):c.322C>T (p.(His108Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929537" "0" "30" "9" "130592005" "130592005" "subst" "0.000134125" "02326" "ENG_000153" "g.130592005C>A" "" "" "" "ENG(NM_000118.3):c.321G>T (p.L107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949189" "0" "30" "9" "130586697" "130586697" "subst" "0" "02326" "ENG_000154" "g.130586697C>T" "" "" "" "ENG(NM_000118.3):c.1020G>A (p.P340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949190" "0" "30" "9" "130605542" "130605542" "subst" "2.84935E-5" "02326" "ENG_000155" "g.130605542G>A" "" "" "" "ENG(NM_000118.3):c.68-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949191" "0" "90" "9" "130616567" "130616567" "subst" "0" "02329" "ENG_000079" "g.130616567C>T" "" "" "" "ENG(NM_000118.3):c.67+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949192" "0" "90" "9" "130616633" "130616633" "subst" "0" "02330" "ENG_000156" "g.130616633A>G" "" "" "" "ENG(NM_000118.3):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978400" "0" "70" "9" "130581940" "130581940" "subst" "0" "01804" "ENG_000157" "g.130581940C>T" "" "" "" "ENG(NM_001114753.3):c.1273-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978401" "0" "50" "9" "130587520" "130587520" "subst" "4.06765E-6" "02325" "ENG_000158" "g.130587520A>G" "" "" "" "ENG(NM_000118.4):c.806T>C (p.M269T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978402" "0" "50" "9" "130587536" "130587536" "subst" "4.06908E-6" "02325" "ENG_000038" "g.130587536C>T" "" "" "" "ENG(NM_000118.3):c.790G>A (p.D264N), ENG(NM_000118.4):c.790G>A (p.D264N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978403" "0" "90" "9" "130605373" "130605373" "subst" "1.62538E-5" "01804" "ENG_000159" "g.130605373C>T" "" "" "" "ENG(NM_001278138.2):c.-328G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978404" "0" "50" "9" "130616643" "130616643" "subst" "0.000548694" "01804" "ENG_000137" "g.130616643C>T" "" "" "" "ENG(NM_000118.3):c.-9G>A, ENG(NM_000118.4):c.-9G>A, ENG(NM_001114753.3):c.-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985346" "21" "70" "9" "130587629" "130587632" "del" "0" "03544" "ENG_000160" "g.130587629_130587632del" "" "" "" "" "familial segregation (affected mother and maternal grandfather)" "Germline" "yes" "" "0" "" "" "g.127825350_127825353del" "{CV:3895534}" "pathogenic (dominant)" "ACMG" "0000997498" "0" "30" "9" "130580393" "130580393" "subst" "0.000203678" "01804" "ENG_000085" "g.130580393A>C" "" "" "" "ENG(NM_000118.3):c.1686+6T>G, ENG(NM_000118.4):c.1686+6T>G, ENG(NM_001114753.2):c.1686+6T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997499" "0" "30" "9" "130592004" "130592004" "subst" "0.000130051" "01804" "ENG_000127" "g.130592004G>A" "" "" "" "ENG(NM_000118.3):c.322C>T (p.H108Y), ENG(NM_001114753.2):c.322C>T (p.(His108Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997500" "0" "30" "9" "130592102" "130592102" "subst" "1.2194E-5" "01804" "ENG_000161" "g.130592102G>A" "" "" "" "ENG(NM_001114753.2):c.224C>T (p.(Pro75Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997501" "0" "10" "9" "130605472" "130605472" "subst" "0.00323665" "02326" "ENG_000073" "g.130605472G>A" "" "" "" "ENG(NM_000118.2):c.120C>T (p.(Gly40=)), ENG(NM_000118.3):c.120C>T (p.G40=), ENG(NM_000118.4):c.120C>T (p.G40=), ENG(NM_001114753.2):c.120C>T (p.G40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014499" "0" "50" "9" "130605413" "130605413" "subst" "4.06164E-6" "02325" "ENG_000162" "g.130605413G>A" "" "" "" "ENG(NM_000118.4):c.179C>T (p.A60V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025587" "0" "90" "9" "130586583" "130586583" "subst" "0" "02325" "ENG_000024" "g.130586583C>T" "" "" "" "ENG(NM_000118.3):c.1134G>A (p.A378=), ENG(NM_000118.4):c.1134G>A (p.A378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025588" "0" "30" "9" "130586622" "130586622" "subst" "0.000357337" "02330" "ENG_000028" "g.130586622G>A" "" "" "" "ENG(NM_000118.3):c.1095C>T (p.D365=), ENG(NM_001114753.2):c.1095C>T (p.D365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037189" "0" "30" "9" "130580633" "130580633" "subst" "0.00107415" "01804" "ENG_000094" "g.130580633G>A" "" "" "" "ENG(NM_000118.3):c.1452C>T (p.S484=), ENG(NM_001114753.3):c.1452C>T (p.(Ser484=))" "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 ENG ## Count = 222 "{{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}}" "0000163306" "00024232" "90" "617" "0" "617" "0" "c.617dup" "r.(?)" "p.(Cys207Leufs*127)" "5" "0000163312" "00024232" "10" "2578" "0" "2581" "0" "c.*700_*703del" "r.(=)" "p.(=)" "14" "0000163313" "00024232" "50" "1252" "0" "1252" "0" "c.1252G>C" "r.(?)" "p.(Ala418Pro)" "9" "0000163314" "00024232" "90" "772" "0" "772" "0" "c.772del" "r.(?)" "p.(Tyr258Thrfs*101)" "6" "0000163315" "00024232" "10" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "5" "0000163316" "00024232" "90" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Gln489*)" "12" "0000163317" "00024232" "10" "-35" "0" "-35" "0" "c.-35A>G" "r.(=)" "p.(=)" "1" "0000163318" "00024232" "50" "1762" "0" "1762" "0" "c.1762G>A" "r.(?)" "p.(Val588Ile)" "14" "0000163319" "00024232" "10" "-35" "0" "-35" "0" "c.-35A>G" "r.(?)" "p.(=)" "1" "0000163320" "00024232" "10" "1134" "29" "1134" "29" "c.1134+29G>A" "r.(=)" "p.(=)" "8i" "0000163321" "00024232" "90" "640" "0" "643" "0" "c.640_643del" "r.(?)" "p.(Gly214Thrfs*7)" "5" "0000163322" "00024232" "90" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Arg437Trp)" "1" "0000246790" "00024232" "30" "1686" "6" "1686" "6" "c.1686+6T>G" "r.(=)" "p.(=)" "" "0000246865" "00024232" "50" "302" "0" "302" "0" "c.302T>A" "r.(?)" "p.(Val101Glu)" "" "0000248337" "00024232" "30" "1686" "6" "1686" "6" "c.1686+6T>G" "r.(=)" "p.(=)" "" "0000250072" "00024232" "10" "1686" "6" "1686" "6" "c.1686+6T>G" "r.(=)" "p.(=)" "" "0000252513" "00024232" "90" "503" "0" "503" "0" "c.503T>C" "r.(?)" "p.(Ile168Thr)" "" "0000252539" "00024232" "90" "758" "0" "758" "0" "c.758T>C" "r.(?)" "p.(Leu253Pro)" "" "0000252553" "00024232" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0000252619" "00024232" "90" "1272" "2" "1272" "2" "c.1272+2T>C" "r.spl?" "p.?" "" "0000252620" "00024232" "90" "1134" "2" "1134" "2" "c.1134+2T>C" "r.spl?" "p.?" "" "0000252621" "00024232" "90" "689" "2" "689" "2" "c.689+2T>C" "r.spl?" "p.?" "" "0000252622" "00024232" "90" "360" "2" "360" "2" "c.360+2T>C" "r.spl?" "p.?" "" "0000252686" "00024232" "50" "503" "0" "503" "0" "c.503T>A" "r.(?)" "p.(Ile168Asn)" "" "0000252726" "00024232" "50" "1469" "0" "1469" "0" "c.1469T>C" "r.(?)" "p.(Leu490Ser)" "" "0000252741" "00024232" "50" "1241" "0" "1241" "0" "c.1241T>A" "r.(?)" "p.(Met414Lys)" "" "0000265885" "00024232" "10" "1029" "0" "1029" "0" "c.1029C>T" "r.(?)" "p.(Thr343=)" "" "0000265886" "00024232" "10" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Leu354=)" "" "0000265887" "00024232" "10" "1096" "0" "1096" "0" "c.1096G>C" "r.(?)" "p.(Asp366His)" "" "0000265888" "00024232" "30" "116" "0" "116" "0" "c.116G>A" "r.(?)" "p.(Arg39Lys)" "" "0000265889" "00024232" "30" "1191" "0" "1191" "0" "c.1191G>T" "r.(?)" "p.(Glu397Asp)" "" "0000265890" "00024232" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Gly40=)" "" "0000265891" "00024232" "30" "1312" "-12" "1312" "-12" "c.1312-12G>A" "r.(=)" "p.(=)" "" "0000265892" "00024232" "10" "1374" "0" "1374" "0" "c.1374A>G" "r.(?)" "p.(Pro458=)" "" "0000265893" "00024232" "10" "1452" "0" "1452" "0" "c.1452C>T" "r.(?)" "p.(Ser484=)" "" "0000265894" "00024232" "10" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Thr5Met)" "" "0000265895" "00024232" "30" "1510" "0" "1510" "0" "c.1510G>A" "r.(?)" "p.(Val504Met)" "" "0000265896" "00024232" "30" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Leu587Phe)" "" "0000265897" "00024232" "30" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Leu)" "" "0000265898" "00024232" "30" "2077" "0" "2077" "0" "c.*199C>A" "r.(=)" "p.(=)" "" "0000265899" "00024232" "10" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Leu69=)" "" "0000265900" "00024232" "30" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Cys)" "" "0000265901" "00024232" "30" "627" "0" "627" "0" "c.627G>C" "r.(?)" "p.(Leu209Phe)" "" "0000265902" "00024232" "30" "954" "0" "954" "0" "c.954G>A" "r.(?)" "p.(Pro318=)" "" "0000267829" "00024232" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Gly40=)" "" "0000267830" "00024232" "10" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Thr5Met)" "" "0000267831" "00024232" "30" "1593" "0" "1593" "0" "c.1593C>T" "r.(?)" "p.(Ser531=)" "" "0000267832" "00024232" "30" "1611" "0" "1611" "0" "c.1611C>T" "r.(?)" "p.(Tyr537=)" "" "0000268847" "00024232" "10" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Leu354=)" "" "0000268848" "00024232" "30" "1095" "0" "1095" "0" "c.1095C>T" "r.(?)" "p.(Asp365=)" "" "0000268849" "00024232" "30" "1096" "0" "1096" "0" "c.1096G>C" "r.(?)" "p.(Asp366His)" "" "0000268850" "00024232" "30" "1134" "16" "1134" "16" "c.1134+16C>T" "r.(=)" "p.(=)" "" "0000268851" "00024232" "10" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Gly40=)" "" "0000268852" "00024232" "10" "1374" "0" "1374" "0" "c.1374A>G" "r.(?)" "p.(Pro458=)" "" "0000268853" "00024232" "10" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Thr5Met)" "" "0000268854" "00024232" "30" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Leu)" "" "0000268855" "00024232" "30" "68" "-9" "68" "-9" "c.68-9C>G" "r.(=)" "p.(=)" "" "0000268856" "00024232" "30" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Val236=)" "" "0000271137" "00024232" "90" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "" "0000271138" "00024232" "10" "1974" "0" "1974" "0" "c.*96C>T" "r.(=)" "p.(=)" "" "0000271139" "00024232" "90" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Gln360Ter)" "" "0000271140" "00024232" "10" "1096" "0" "1096" "0" "c.1096G>C" "r.(?)" "p.(Asp366His)" "" "0000271142" "00024232" "90" "1134" "1" "1134" "1" "c.1134+1G>A" "r.spl?" "p.?" "" "0000271143" "00024232" "90" "1134" "0" "1134" "0" "c.1134G>A" "r.(?)" "p.(Ala378=)" "" "0000271144" "00024232" "90" "1134" "0" "1134" "0" "c.1134G>T" "r.(?)" "p.(Ala378=)" "" "0000271145" "00024232" "90" "1238" "0" "1238" "0" "c.1238G>T" "r.(?)" "p.(Gly413Val)" "" "0000271146" "00024232" "90" "1270" "0" "1270" "0" "c.1270G>T" "r.(?)" "p.(Glu424Ter)" "" "0000271147" "00024232" "90" "1272" "1" "1272" "1" "c.1272+1G>A" "r.spl?" "p.?" "" "0000271148" "00024232" "90" "1274" "0" "1274" "0" "c.1274C>G" "r.(?)" "p.(Ala425Gly)" "" "0000271149" "00024232" "10" "1275" "0" "1275" "0" "c.1275G>C" "r.(?)" "p.(Ala425=)" "" "0000271150" "00024232" "90" "1292" "0" "1292" "0" "c.1292C>A" "r.(?)" "p.(Ser431Ter)" "" "0000271151" "00024232" "90" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(Arg437=)" "" "0000271152" "00024232" "50" "1316" "0" "1316" "0" "c.1316A>C" "r.(?)" "p.(Lys439Thr)" "" "0000271153" "00024232" "90" "1384" "0" "1384" "0" "c.1384C>T" "r.(?)" "p.(Gln462Ter)" "" "0000271154" "00024232" "90" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Gln48Ter)" "" "0000271155" "00024232" "50" "14" "0" "14" "0" "c.14C>A" "r.(?)" "p.(Thr5Lys)" "" "0000271156" "00024232" "10" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Thr5Met)" "" "0000271157" "00024232" "90" "154" "0" "154" "0" "c.154G>C" "r.(?)" "p.(Gly52Arg)" "" "0000271158" "00024232" "50" "1586" "0" "1586" "0" "c.1586G>C" "r.(?)" "p.(Arg529Pro)" "" "0000271159" "00024232" "90" "1611" "0" "1611" "0" "c.1611C>A" "r.(?)" "p.(Tyr537Ter)" "" "0000271160" "00024232" "90" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Gln560Ter)" "" "0000271161" "00024232" "90" "1684" "0" "1684" "0" "c.1684C>T" "r.(?)" "p.(Gln562Ter)" "" "0000271162" "00024232" "90" "1687" "-2" "1687" "-2" "c.1687-2A>G" "r.spl?" "p.?" "" "0000271163" "00024232" "50" "1742" "-15" "1742" "-15" "c.1742-15G>A" "r.(=)" "p.(=)" "" "0000271164" "00024232" "90" "1833" "0" "1833" "0" "c.1833G>A" "r.(?)" "p.(Trp611Ter)" "" "0000271165" "00024232" "30" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Leu)" "" "0000271166" "00024232" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000271167" "00024232" "90" "220" "-2" "220" "-2" "c.220-2A>G" "r.spl?" "p.?" "" "0000271168" "00024232" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Gln77Ter)" "" "0000271169" "00024232" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Gln83Ter)" "" "0000271170" "00024232" "90" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Ter)" "" "0000271171" "00024232" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Gln110Ter)" "" "0000271172" "00024232" "90" "360" "1" "360" "1" "c.360+1G>A" "r.spl?" "p.?" "" "0000271173" "00024232" "90" "360" "5" "360" "5" "c.360+5G>A" "r.spl?" "p.?" "" "0000271174" "00024232" "50" "360" "5" "360" "5" "c.360+5G>T" "r.spl?" "p.?" "" "0000271175" "00024232" "90" "360" "0" "360" "0" "c.360C>A" "r.(?)" "p.(Tyr120Ter)" "" "0000271176" "00024232" "90" "361" "-2" "361" "-2" "c.361-2A>G" "r.spl?" "p.?" "" "0000271177" "00024232" "30" "392" "0" "392" "0" "c.392C>T" "r.(?)" "p.(Pro131Leu)" "" "0000271178" "00024232" "50" "475" "0" "475" "0" "c.475G>C" "r.(?)" "p.(Ala159Pro)" "" "0000271179" "00024232" "90" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Ter)" "" "0000271180" "00024232" "90" "523" "1" "523" "1" "c.523+1G>T" "r.spl?" "p.?" "" "0000271181" "00024232" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Gln176Ter)" "" "0000271182" "00024232" "90" "533" "0" "533" "0" "c.533C>G" "r.(?)" "p.(Ser178Ter)" "" "0000271183" "00024232" "90" "553" "0" "553" "0" "c.553G>T" "r.(?)" "p.(Glu185Ter)" "" "0000271184" "00024232" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Gln188Ter)" "" "0000271185" "00024232" "50" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Glu195Lys)" "" "0000271186" "00024232" "50" "653" "0" "653" "0" "c.653C>A" "r.(?)" "p.(Ala218Glu)" "" "0000271187" "00024232" "90" "67" "1" "67" "1" "c.67+1G>A" "r.spl?" "p.?" "" "0000271188" "00024232" "90" "67" "3" "67" "3" "c.67+3A>G" "r.spl?" "p.?" "" "0000271189" "00024232" "90" "67" "5" "67" "5" "c.67+5G>A" "r.spl?" "p.?" "" "0000271190" "00024232" "50" "68" "-3" "68" "-3" "c.68-3C>G" "r.spl?" "p.?" "" "0000271191" "00024232" "90" "690" "-1" "690" "-1" "c.690-1G>C" "r.spl?" "p.?" "" "0000271192" "00024232" "90" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Gly255Asp)" "" "0000271193" "00024232" "50" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Ser260=)" "" "0000271194" "00024232" "50" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Asp264Asn)" "" "0000271195" "00024232" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Gln270Ter)" "" "0000271196" "00024232" "90" "991" "1" "991" "1" "c.991+1G>A" "r.spl?" "p.?" "" "0000271197" "00024232" "90" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Gly331Ser)" "" "0000271198" "00024232" "50" "992" "-1" "992" "-1" "c.992-1G>A" "r.spl?" "p.?" "" "0000332796" "00024232" "30" "179" "0" "179" "0" "c.179C>A" "r.(?)" "p.(Ala60Asp)" "" "0000472200" "00024232" "90" "1269" "0" "1269" "0" "c.1269dup" "r.(?)" "p.(Glu424*)" "" "0000536316" "00024232" "30" "2068" "0" "2068" "0" "c.*190C>T" "r.(=)" "p.(=)" "" "0000536317" "00024232" "50" "2068" "0" "2068" "0" "c.*190C>T" "r.(=)" "p.(=)" "" "0000536318" "00024232" "30" "1981" "0" "1986" "0" "c.*103_*108dup" "r.(=)" "p.(=)" "" "0000536319" "00024232" "30" "1806" "0" "1806" "0" "c.1806C>T" "r.(?)" "p.(Ile602=)" "" "0000536320" "00024232" "10" "1794" "0" "1794" "0" "c.1794T>C" "r.(?)" "p.(Gly598=)" "" "0000536321" "00024232" "30" "1794" "0" "1794" "0" "c.1794T>C" "r.(?)" "p.(Gly598=)" "" "0000536322" "00024232" "10" "1794" "0" "1794" "0" "c.1794T>C" "r.(?)" "p.(Gly598=)" "" "0000536323" "00024232" "10" "1742" "-13" "1742" "-13" "c.1742-13C>T" "r.(=)" "p.(=)" "" "0000536324" "00024232" "30" "1533" "0" "1533" "0" "c.1533G>A" "r.(?)" "p.(Ala511=)" "" "0000536325" "00024232" "30" "1533" "0" "1533" "0" "c.1533G>A" "r.(?)" "p.(Ala511=)" "" "0000536326" "00024232" "30" "1311" "7" "1311" "7" "c.1311+7T>C" "r.(=)" "p.(=)" "" "0000536327" "00024232" "30" "1273" "-4" "1273" "-4" "c.1273-4G>A" "r.spl?" "p.?" "" "0000536328" "00024232" "90" "1135" "-3" "1135" "-3" "c.1135-3C>G" "r.spl?" "p.?" "" "0000536329" "00024232" "30" "1134" "16" "1134" "16" "c.1134+16C>T" "r.(=)" "p.(=)" "" "0000536330" "00024232" "50" "1116" "0" "1117" "0" "c.1116_1117insT" "r.(?)" "p.(Lys373Ter)" "" "0000536331" "00024232" "30" "1041" "0" "1041" "0" "c.1041G>A" "r.(?)" "p.(Lys347=)" "" "0000536332" "00024232" "10" "991" "21" "991" "26" "c.991+21_991+26dup" "r.(=)" "p.(=)" "" "0000536333" "00024232" "90" "917" "0" "917" "0" "c.917T>C" "r.(?)" "p.(Leu306Pro)" "" "0000536334" "00024232" "10" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Ala303=)" "" "0000536335" "00024232" "10" "816" "12" "816" "12" "c.816+12G>A" "r.(=)" "p.(=)" "" "0000536336" "00024232" "50" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Asp264Asn)" "" "0000536337" "00024232" "90" "781" "0" "781" "0" "c.781T>C" "r.(?)" "p.(Trp261Arg)" "" "0000536338" "00024232" "30" "699" "0" "699" "0" "c.699G>A" "r.(?)" "p.(Thr233=)" "" "0000536339" "00024232" "30" "636" "0" "636" "0" "c.636G>C" "r.(?)" "p.(Val212=)" "" "0000536340" "00024232" "10" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000536341" "00024232" "30" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000536342" "00024232" "10" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000536343" "00024232" "30" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000536344" "00024232" "10" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000536345" "00024232" "10" "524" "-15" "524" "-15" "c.524-15C>T" "r.(=)" "p.(=)" "" "0000536346" "00024232" "90" "512" "0" "512" "0" "c.512G>C" "r.(?)" "p.(Arg171Pro)" "" "0000536347" "00024232" "30" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Leu138=)" "" "0000536348" "00024232" "30" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Pro130Ser)" "" "0000536349" "00024232" "30" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(His108Tyr)" "" "0000536350" "00024232" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Gln83Ter)" "" "0000536351" "00024232" "30" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Leu78=)" "" "0000536352" "00024232" "30" "225" "0" "225" "0" "c.225G>A" "r.(?)" "p.(Pro75=)" "" "0000536353" "00024232" "90" "159" "0" "159" "0" "c.159C>A" "r.(?)" "p.(Cys53Ter)" "" "0000536354" "00024232" "30" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Cys)" "" "0000611864" "00024232" "30" "1873" "0" "1873" "0" "c.1873C>G" "r.(?)" "p.(Gln625Glu)" "" "0000611865" "00024232" "50" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Leu587Phe)" "" "0000611866" "00024232" "70" "1310" "0" "1310" "0" "c.1310G>A" "r.(?)" "p.(Arg437Gln)" "" "0000611867" "00024232" "30" "1096" "0" "1096" "0" "c.1096G>C" "r.(?)" "p.(Asp366His)" "" "0000611868" "00024232" "30" "733" "0" "733" "0" "c.733G>C" "r.(?)" "p.(Gly245Arg)" "" "0000611869" "00024232" "30" "690" "-17" "690" "-17" "c.690-17C>T" "r.(=)" "p.(=)" "" "0000611870" "00024232" "10" "392" "0" "392" "0" "c.392C>T" "r.(?)" "p.(Pro131Leu)" "" "0000611871" "00024232" "10" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(Cys53=)" "" "0000611872" "00024232" "30" "-9" "0" "-9" "0" "c.-9G>A" "r.(?)" "p.(=)" "" "0000622166" "00024232" "30" "-9" "0" "-9" "0" "c.-9G>A" "r.(?)" "p.(=)" "" "0000624804" "00024232" "90" "1080" "0" "1083" "0" "c.1080_1083del" "r.(?)" "p.(Thr361Serfs*7)" "" "0000652597" "00024232" "50" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Gly214Ser)" "" "0000652598" "00024232" "30" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000656224" "00024232" "30" "841" "0" "841" "0" "c.841A>G" "r.(?)" "p.(Ile281Val)" "" "0000656225" "00024232" "50" "703" "0" "703" "0" "c.703A>G" "r.(?)" "p.(Thr235Ala)" "" "0000656226" "00024232" "30" "690" "-19" "690" "-19" "c.690-19C>T" "r.(=)" "p.(=)" "" "0000656227" "00024232" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Gly40=)" "" "0000656228" "00024232" "30" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Thr5Met)" "" "0000678528" "00024232" "30" "1686" "6" "1686" "6" "c.1686+6T>G" "r.(=)" "p.(=)" "" "0000678529" "00024232" "30" "219" "22" "219" "22" "c.219+22C>T" "r.(=)" "p.(=)" "" "0000690408" "00024232" "10" "1794" "0" "1794" "0" "c.1794T>C" "r.(?)" "p.(Gly598=)" "" "0000690409" "00024232" "30" "1762" "0" "1762" "0" "c.1762G>A" "r.(?)" "p.(Val588Ile)" "" "0000690410" "00024232" "30" "690" "-4" "690" "-3" "c.690-4_690-3dup" "r.spl?" "p.?" "" "0000690411" "00024232" "50" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Glu195Lys)" "" "0000690412" "00024232" "30" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Gly40=)" "" "0000711408" "00024232" "90" "920" "0" "920" "0" "c.920dup" "r.(?)" "p.(Asn307Lysfs*27)" "" "0000711450" "00024232" "50" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Arg197Trp)" "" "0000722274" "00024232" "90" "67" "1" "67" "1" "c.67+1G>A" "r.spl?" "p.?" "" "0000803880" "00024232" "50" "2003" "0" "2003" "0" "c.*125C>T" "r.(=)" "p.(=)" "" "0000803881" "00024232" "30" "1419" "0" "1419" "0" "c.1419C>T" "r.(?)" "p.(Ser473=)" "" "0000803882" "00024232" "50" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000861398" "00024232" "30" "1374" "0" "1374" "0" "c.1374A>G" "r.(?)" "p.(Pro458=)" "" "0000861399" "00024232" "10" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Leu354=)" "" "0000861400" "00024232" "30" "690" "-19" "690" "-19" "c.690-19del" "r.(=)" "p.(=)" "" "0000881312" "00024232" "70" "296" "0" "296" "0" "c.296T>A" "r.(?)" "p.(Leu99His)" "" "0000888629" "00024232" "30" "1273" "-4" "1273" "-4" "c.1273-4G>A" "r.spl?" "p.?" "" "0000888630" "00024232" "30" "1019" "0" "1019" "0" "c.1019C>T" "r.(?)" "p.(Pro340Leu)" "" "0000888631" "00024232" "30" "705" "0" "705" "0" "c.705G>C" "r.(?)" "p.(Thr235=)" "" "0000888632" "00024232" "30" "393" "0" "393" "0" "c.393G>C" "r.(?)" "p.(Pro131=)" "" "0000888633" "00024232" "30" "48" "0" "48" "0" "c.48C>G" "r.(?)" "p.(Ser16Arg)" "" "0000913084" "00024232" "50" "2012" "0" "2012" "0" "c.*134G>A" "r.(=)" "p.(=)" "" "0000913085" "00024232" "30" "1434" "0" "1434" "0" "c.1434A>T" "r.(?)" "p.(Arg478Ser)" "" "0000929536" "00024232" "30" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(His108Tyr)" "" "0000929537" "00024232" "30" "321" "0" "321" "0" "c.321G>T" "r.(?)" "p.(Leu107=)" "" "0000949189" "00024232" "30" "1020" "0" "1020" "0" "c.1020G>A" "r.(?)" "p.(Pro340=)" "" "0000949190" "00024232" "30" "68" "-18" "68" "-18" "c.68-18C>T" "r.(=)" "p.(=)" "" "0000949191" "00024232" "90" "67" "1" "67" "1" "c.67+1G>A" "r.spl?" "p.?" "" "0000949192" "00024232" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000978400" "00024232" "70" "1273" "-1" "1273" "-1" "c.1273-1G>A" "r.spl?" "p.?" "" "0000978401" "00024232" "50" "806" "0" "806" "0" "c.806T>C" "r.(?)" "p.(Met269Thr)" "" "0000978402" "00024232" "50" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Asp264Asn)" "" "0000978403" "00024232" "90" "219" "0" "219" "0" "c.219G>A" "r.(?)" "p.(Thr73=)" "" "0000978404" "00024232" "50" "-9" "0" "-9" "0" "c.-9G>A" "r.(?)" "p.(=)" "" "0000985346" "00024232" "70" "697" "0" "700" "0" "c.697_700del" "r.(?)" "p.(Thr233*)" "6" "0000997498" "00024232" "30" "1686" "6" "1686" "6" "c.1686+6T>G" "r.(=)" "p.(=)" "" "0000997499" "00024232" "30" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(His108Tyr)" "" "0000997500" "00024232" "30" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Pro75Leu)" "" "0000997501" "00024232" "10" "120" "0" "120" "0" "c.120C>T" "r.(?)" "p.(Gly40=)" "" "0001014499" "00024232" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "" "0001025587" "00024232" "90" "1134" "0" "1134" "0" "c.1134G>A" "r.(?)" "p.(Ala378=)" "" "0001025588" "00024232" "30" "1095" "0" "1095" "0" "c.1095C>T" "r.(?)" "p.(Asp365=)" "" "0001037189" "00024232" "30" "1452" "0" "1452" "0" "c.1452C>T" "r.(?)" "p.(Ser484=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000035749" "0000163312" "0000035750" "0000163313" "0000035751" "0000163314" "0000035752" "0000163315" "0000035753" "0000163316" "0000035754" "0000163317" "0000035755" "0000163318" "0000035757" "0000163319" "0000035757" "0000163320" "0000035757" "0000163321" "0000035759" "0000163322" "0000100915" "0000163306" "0000230634" "0000472200" "0000270975" "0000624804" "0000295908" "0000652597" "0000295909" "0000652598" "0000327629" "0000711408" "0000327641" "0000711450" "0000420953" "0000881312" "0000451454" "0000985346"