### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CUBN) # 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}}" "CUBN" "cubilin (intrinsic factor-cobalamin receptor)" "10" "p12" "unknown" "NG_008967.1" "UD_132118799766" "{PMID:Aminoff et al. 1999:10080186}, {PMID:Tanner et al. 2003:12590260}" "https://www.LOVD.nl/CUBN" "Finnish Disease Database \r\nSee also mutation database for AMN gene " "1" "2548" "8029" "602997" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "Genomic reference sequence: hg19 (GRCh37)" "g" "http://databases.lovd.nl/shared/refseq/CUBN_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-08-30 00:00:00" "00006" "2019-07-21 20:27:12" "00000" "2025-07-08 13:22:38" ## 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}}" "00000280" "CUBN" "cubilin (intrinsic factor-cobalamin receptor)" "001" "NM_001081.3" "" "NP_001072.2" "" "" "" "-52" "11881" "10872" "17171816" "16865965" "00008" "2012-08-30 16:58:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00034" "IGS1" "Immerslund-Grasbeck syndrome" "AR" "261100" "" "" "" "00008" "2012-08-30 15:23:15" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "01644" "ATS2" "Alport syndrome, type 2, autosomal recessive" "AR" "203780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-02-15 12:37:44" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06495" "RLSDF" "Rhizomelic limb shortening with dysmorphic features" "AR" "618821" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CUBN" "00034" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00019409" "" "" "" "1" "" "00746" "{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}" "" "" "" "Spain" "" "0" "" "" "" "" "00154032" "" "" "" "1" "" "00687" "{PMID:Lin 2014:25381091}, {DOI:Lin 2014:10.1186/1471-2369-15-175}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00290006" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290007" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290008" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290009" "" "" "" "76" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290010" "" "" "" "130" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290011" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290012" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290013" "" "" "" "208" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290014" "" "" "" "206" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290015" "" "" "" "208" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290016" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304234" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304235" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304236" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304237" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00377955" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "" "" "" "" "" "0" "" "" "" "" "00398756" "" "" "" "1" "" "00000" "{PMID:Mejecase 2019:30267408}" "" "M" "yes" "France" "" "0" "" "" "Senegalese" "" "00398758" "" "" "" "1" "" "00000" "{PMID:Mejecase 2019:30267408}" "" "M" "yes" "France" "" "0" "" "" "Senegalese" "" "00435463" "" "" "" "1" "" "00006" "{PMID:Sajan 2019:30478137}" "-generation family, 1 affected, unaffected heterozygous parents" "" "" "United States" "" "0" "" "" "" "Pat1" "00453670" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat86" "00465315" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00019409" "00399" "00154032" "01644" "00290006" "00198" "00290007" "00198" "00290008" "00198" "00290009" "00198" "00290010" "00198" "00290011" "00198" "00290012" "00198" "00290013" "00198" "00290014" "00198" "00290015" "00198" "00290016" "00198" "00304234" "00198" "00304235" "00198" "00304236" "00198" "00304237" "00198" "00377955" "04214" "00398756" "04214" "00398758" "04214" "00435463" "06495" "00453670" "02554" "00465315" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00034, 00198, 00399, 01644, 02554, 04214, 06495 ## Count = 7 "{{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}}" "0000126709" "01644" "00154032" "00687" "Unknown" "" "no hearing loss (-HP:0000365); no ocular changes; 57y-renal failure (HP:0000083); hematuria (HP:0000790); proteinuria (HP:0000093)" "" "" "" "" "" "" "" "" "" "Alport syndrome" "" "0000273101" "04214" "00377955" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cone Distrophy" "" "0000291840" "04214" "00398756" "00000" "Familial, autosomal recessive" "21y" "marked photophobia and congenital nystagmus; best corrected visual acuity: light perception at 21y; visual fields bilaterally constricted to the 10 at stimulus V4e; funduscopy: beaten-bronze appearance of retinal periphery with fine white dots and pigment migration associated with marked macular atrophic changes; fundus autofluorescence: patchy loss of autofluorescence in the periphery and macula; spectral domain optical coherence tomography: preserved but thinned outer nuclear layer centrally associated with a loss of the outer retinal hyper reflective bands replaced by hyper reflective material above the retinal pigment epithelium/Bruch\'s complex; renal abnormalities with high blood pressure, hematuria and nephrotic-range proteinuria with a renal biopsy not compatible with nephronophthisis" "" "" "" "" "" "" "" "" "RP93" "early-onset cone-rod dystrophy" "" "0000291842" "04214" "00398758" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity: 20/32; high myopia; kinetic visual field was moderately reduced to 160 deg at the III4e stimulus; full-field electroretinogram: non-recordable; funduscopy: tilted disc, narrowed retinal vessels, very few pigment migrations in retinal periphery and well preserved fovea; fundus autofluorescence: sparse loss of autofluorescence in the periphery with a perifoveal ring of increased autofluorescence; spectral domain optical coherence tomography: (vertical scans) relative preservation of the outer retinal hyper reflective bands and the outer nuclear layers centrally; normal cerebral magnetic resonance imaging, normal blood pressure, preserved glomerular filtration rate; hematuria and subnormal nephrotic-range proteinuria" "" "25y" "" "" "" "" "" "" "RP93" "retinitis pigmentosa" "" "0000325653" "06495" "00435463" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth weight 3.18kg (32nd), length 50.8cm (69th); weight 73.6kg (92nd), height 156.7 cm (17th), OFC 55.4 cm (84th), body mass index 30 kg/m2 (96th); Rhizomelic shortening and milder mesomelic shortening upper and lower extremities, short thumbs, bilateral short 5th fingers, hyperextensible fingers, bilateral middle finger clinodactyly, limited range of motion shoulder joints, chronic joint pain, juvenile idiopathic arthritis, bilateral patellofemoral joint dislocation; prominent forehead, downslanting palpebral fissures, broad nasal bridge, long philtrum; obesity, left-sided headaches, acanthosis nigricans, chronic stage 1 kidney disease, café au lait macule on upper right arm, depressed mood, occasional abdominal pain, dizziness, nausea, left-sided small branchial cleft defect covered with skin without an obvious fistula; no cardiac anomalirs" "" "<00y06m" "" "" "" "" "" "" "RLSDF" "rhizomelic shortening of limbs, dysmorphic features" "" "0000342327" "02554" "00453670" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000350868" "00198" "00465315" "03544" "Familial, autosomal recessive" "" "HP:0000093" "" "" "" "" "" "" "" "" "PROCHOB" "isolated proteinuria" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019394" "00019409" "1" "00746" "00746" "2014-07-24 16:57:55" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000154893" "00154032" "1" "00687" "00006" "2018-02-19 09:42:17" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000291174" "00290006" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291175" "00290007" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291176" "00290008" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291177" "00290009" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291178" "00290010" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291179" "00290011" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291180" "00290012" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291181" "00290013" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291182" "00290014" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291183" "00290015" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291184" "00290016" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305363" "00304234" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305364" "00304235" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305365" "00304236" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305366" "00304237" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000379159" "00377955" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" "" "0000399997" "00398756" "1" "00000" "03840" "2022-01-12 10:12:22" "" "" "SEQ" "DNA" "blood" "" "0000399999" "00398758" "1" "00000" "03840" "2022-01-12 10:12:22" "" "" "SEQ" "DNA" "blood" "" "0000436941" "00435463" "1" "00006" "00006" "2023-07-31 11:07:23" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000455282" "00453670" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000466963" "00465315" "1" "03544" "03544" "2025-05-11 17:40:44" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000019394" "CUBN" "0000019394" "NPHS1" "0000154893" "COL4A5" "0000379159" "GUCY2D" "0000399997" "CC2D2A" "0000399999" "CC2D2A" ## 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 = 302 "{{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}}" "0000001701" "0" "99" "10" "17083159" "17083159" "subst" "0.000357651" "00015" "CUBN_000001" "g.17083159G>A" "1/158 CON (het)" "{PMID:Tanner et al. 2012:22929189}, {PMID:Aminoff et al. 1999:10080186}, {PMID:Tanner et al. 2004:15024727}, {dbSNP:rs121434430}" "" "3916C>T (FM1) Finnish Major mutation" "Finnish Major MGA1 mutation: 4 Finnish MGA1 patients, 19 Finnish MGA1 families (18 hom and 1 com-het)" "SUMMARY record" "yes" "rs121434430" "0" "" "" "g.17041160G>A" "" "pathogenic" "" "0000001702" "3" "99" "10" "17088532" "17088532" "subst" "0" "00015" "CUBN_000002" "g.17088532G>C" "0/151 CON" "{PMID:Aminoff et al. 1999:10080186}, {PMID:Tanner et al. 2004:15024727}, {PMID:Tanner et al. 2012:22929189}" "" "IVS23-439C>G (FM2)" "1 Finnish MGA1 family (hom), 1 Swedish MGA1 family (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.17046533G>C" "" "pathogenic" "" "0000001703" "3" "99" "10" "17171122" "17171122" "subst" "0" "00015" "CUBN_000003" "g.17171122G>A" "" "{PMID:Tanner et al. 2004:15024727}" "" "" "1 Turkish MGA1 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.17129123G>A" "" "pathogenic" "" "0000001704" "3" "77" "10" "17165642" "17165642" "subst" "0" "00015" "CUBN_000004" "g.17165642C>T" "" "{PMID:Tanner et al. 2004:15024727}, {PMID:Tanner et al. 2012:22929189}" "" "" "2 Bedouin MGA1 families (hom)" "SUMMARY record" "yes" "" "" "" "" "g.17123643C>T" "" "likely pathogenic" "" "0000001705" "0" "77" "10" "17147455" "17147455" "subst" "4.06167E-6" "00015" "CUBN_000005" "g.17147455C>T" "" "{PMID:Tanner et al. 2004:15024727}" "" "" "1 Finnish MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17105456C>T" "" "likely pathogenic" "" "0000001706" "3" "99" "10" "17127755" "17127755" "subst" "0" "00015" "CUBN_000006" "g.17127755G>A" "" "{PMID:Tanner et al. 2004:15024727}" "" "" "1 Turkish MGA1 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.17085756G>A" "" "pathogenic" "" "0000001707" "21" "99" "10" "16865965" "17171816" "del" "0" "00015" "CUBN_000007" "g.(?_16865965)_(17171816_?)del" "" "{PMID:Hauck et al. 2008:17668238}, {PMID:Tanner et al. 2012:22929189}" "" "complete CUBN gene deletion" "1 German (com-het) and 1 Spanish MGA1 family (com-het); Hauck-1 mutation" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001708" "11" "77" "10" "17152923" "17152923" "subst" "0.000109656" "00015" "CUBN_000008" "g.17152923G>A" "" "{PMID:Hauck et al. 2008:17668238}, {PMID:Tanner et al. 2012:22929189}" "" "" "1 German and 2 European MGA1 families (com-het)" "SUMMARY record" "yes" "rs202153130" "" "" "" "g.17110924G>A" "" "likely pathogenic" "" "0000001724" "0" "77" "10" "17171119" "17171119" "subst" "4.06683E-6" "00015" "CUBN_000009" "g.17171119C>T" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Pakistani MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17129120C>T" "" "likely pathogenic" "" "0000001725" "0" "99" "10" "17061982" "17171816" "del" "0" "00015" "CUBN_000010" "g.(?_17061982)_(17171816_?)del" "" "{PMID:Tanner et al. 2012:22929189}" "" "del Exons 1-28" "1 Pakistani MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "" "" "pathogenic" "" "0000001726" "0" "99" "10" "17165587" "17165587" "subst" "0" "00015" "CUBN_000011" "g.17165587C>T" "" "{PMID:Tanner et al. 2012:22929189}" "" "C.489_490ins137bp; p.Gly164fs" "1 German MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17123588C>T" "" "pathogenic" "" "0000001727" "3" "77" "10" "17157517" "17157517" "subst" "0" "00015" "CUBN_000012" "g.17157517A>T" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Norwegian MGA1 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.17115518A>T" "" "likely pathogenic" "" "0000001728" "0" "99" "10" "17153044" "17153044" "subst" "0" "00015" "CUBN_000013" "g.17153044G>A" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 German MGA1 patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17111045G>A" "" "pathogenic" "" "0000001730" "0" "99" "10" "17145218" "17145218" "subst" "0" "00015" "CUBN_000015" "g.17145218G>C" "" "{PMID:Tanner et al. 2012:22929189}" "" "p.Leu479*" "1 Spanish MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17103219G>C" "" "pathogenic" "" "0000001731" "0" "99" "10" "17145130" "17145130" "del" "0" "00015" "CUBN_000016" "g.17145130del" "" "{PMID:Tanner et al. 2012:22929189}" "" "p.Gly509fs" "1 Western European MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17103131del" "" "pathogenic" "" "0000001732" "0" "99" "10" "17145124" "17145124" "subst" "0" "00015" "CUBN_000017" "g.17145124C>T" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 German MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17103125C>T" "" "pathogenic" "" "0000001733" "0" "99" "10" "17130273" "17130273" "del" "0" "00015" "CUBN_000018" "g.17130273del" "" "{PMID:Tanner et al. 2012:22929189}" "" "p.Gly613fs" "1 Finnish MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17088274del" "" "pathogenic" "" "0000001734" "0" "99" "10" "17130245" "17130245" "del" "8.12612E-6" "00015" "CUBN_000019" "g.17130245del" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Western European MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17088246del" "" "pathogenic" "" "0000001735" "0" "77" "10" "17127755" "17127755" "subst" "0.00118826" "00015" "CUBN_000020" "g.17127755G>C" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Taiwan (Han) MGA1 family (het)" "SUMMARY record" "yes" "rs182512508" "" "" "" "g.17085756G>C" "" "likely pathogenic" "" "0000001736" "0" "55" "10" "17127638" "17127638" "subst" "0" "00015" "CUBN_000021" "g.17127638T>C" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Swedish MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17085639T>C" "" "VUS" "" "0000001737" "0" "77" "10" "17113564" "17113564" "subst" "4.07249E-6" "00015" "CUBN_000022" "g.17113564G>A" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Dutch MGA1 patient (het)" "SUMMARY record" "" "" "" "" "" "g.17071565G>A" "" "likely pathogenic" "" "0000001738" "0" "99" "10" "17113521" "17113539" "del" "0" "00015" "CUBN_000023" "g.17113521_17113539del" "" "{PMID:Tanner et al. 2012:22929189}" "" "c.2511_2529del" "1 English MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17071522_17071540del" "" "pathogenic" "" "0000001739" "0" "77" "10" "17113456" "17113456" "subst" "0.00727512" "00015" "CUBN_000024" "g.17113456C>T" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "3 MGA1 families: Albanian, Scottish and Turkish" "SUMMARY record" "yes" "rs138083522" "" "" "" "g.17071457C>T" "" "likely pathogenic" "" "0000001740" "3" "99" "10" "17113436" "17113437" "del" "0" "00015" "CUBN_000025" "g.17113436_17113437del" "" "{PMID:Tanner et al. 2012:22929189}" "" "p.Asp872fs" "2 Ashkenazi MGA1 patients (hom)" "SUMMARY record" "yes" "" "" "" "" "g.17071437_17071438del" "" "pathogenic" "" "0000001741" "0" "99" "10" "17110722" "17110722" "subst" "0" "00015" "CUBN_000026" "g.17110722G>T" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Western European MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17068723G>T" "" "pathogenic" "" "0000001742" "3" "99" "10" "17110122" "17110122" "subst" "0" "00015" "CUBN_000027" "g.17110122G>T" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Spanish MGA1 patient (hom)" "SUMMARY record" "yes" "" "" "" "" "g.17068123G>T" "" "pathogenic" "" "0000001743" "3" "99" "10" "17107590" "17107590" "subst" "0" "00015" "CUBN_000028" "g.17107590G>C" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Algerian MGA1 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.17065591G>C" "" "pathogenic" "" "0000001744" "0" "99" "10" "17107550" "17107550" "del" "0" "00015" "CUBN_000029" "g.17107550del" "" "{PMID:Tanner et al. 2012:22929189}" "" "p.Thr1032*" "1 Northern European MGA1 family (het)" "SUMMARY record" "yes" "" "" "" "" "g.17065551del" "" "pathogenic" "" "0000001746" "3" "77" "10" "17087101" "17087101" "subst" "0" "00015" "CUBN_000031" "g.17087101A>C" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Moroccan MGA1 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.17045102A>C" "" "likely pathogenic" "" "0000001747" "0" "77" "10" "17085906" "17085906" "subst" "0" "00015" "CUBN_000032" "g.17085906G>A" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Turkish MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17043907G>A" "" "likely pathogenic" "" "0000001749" "0" "99" "10" "17083050" "17083050" "subst" "0" "00015" "CUBN_000034" "g.17083050G>T" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Finnish MGA1 family (het)" "SUMMARY record" "yes" "" "" "" "" "g.17041051G>T" "" "pathogenic" "" "0000001750" "3" "77" "10" "17061885" "17061885" "subst" "0" "00015" "CUBN_000035" "g.17061885G>C" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "2 Turkish MGA1 families (hom)" "SUMMARY record" "yes" "" "" "" "" "g.17019886G>C" "" "likely pathogenic" "" "0000001751" "0" "77" "10" "17061832" "17061832" "subst" "8.13372E-6" "00015" "CUBN_000036" "g.17061832C>T" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 English MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17019833C>T" "" "likely pathogenic" "" "0000039613" "0" "50" "10" "16967407" "16967407" "subst" "0.000268507" "00746" "CUBN_000037" "g.16967407T>C" "" "{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}" "" "" "" "Unknown" "" "" "0" "" "" "g.16925408T>C" "" "VUS" "" "0000248626" "0" "10" "10" "17024615" "17024615" "subst" "0.771516" "02325" "CUBN_000063" "g.17024615A>T" "" "" "" "CUBN(NM_001081.4):c.4563T>A (p.I1521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16982616A>T" "" "benign" "" "0000248761" "0" "10" "10" "17156151" "17156151" "subst" "0.729056" "02325" "CUBN_000083" "g.17156151A>G" "" "" "" "CUBN(NM_001081.4):c.758T>C (p.F253S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17114152A>G" "" "benign" "" "0000249139" "0" "10" "10" "17164788" "17164788" "del" "0" "02325" "CUBN_000073" "g.17164788del" "" "" "" "CUBN(NM_001081.3):c.593+21delT, CUBN(NM_001081.4):c.593+21delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17122789del" "" "benign" "" "0000249416" "0" "30" "10" "16955978" "16955978" "subst" "0.00557011" "02325" "CUBN_000051" "g.16955978A>T" "" "" "" "CUBN(NM_001081.3):c.7365T>A (p.D2455E, p.(Asp2455Glu)), CUBN(NM_001081.4):c.7365T>A (p.D2455E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16913979A>T" "" "likely benign" "" "0000254724" "0" "30" "10" "16957036" "16957036" "subst" "0.00404972" "01943" "CUBN_000082" "g.16957036A>G" "" "" "" "CUBN(NM_001081.3):c.7346T>C (p.M2449T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16915037A>G" "" "likely benign" "" "0000255948" "0" "50" "10" "16911754" "16911754" "subst" "0.00034133" "01943" "CUBN_000048" "g.16911754A>G" "" "" "" "CUBN(NM_001081.3):c.9335T>C (p.F3112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16869755A>G" "" "VUS" "" "0000267209" "0" "30" "10" "16873305" "16873305" "subst" "6.49957E-5" "02325" "CUBN_000039" "g.16873305C>A" "" "" "" "CUBN(NM_001081.4):c.10474G>T (p.D3492Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16831306C>A" "" "likely benign" "" "0000267210" "0" "10" "10" "17147521" "17147521" "subst" "0.617756" "02325" "CUBN_000072" "g.17147521G>T" "" "" "" "CUBN(NM_001081.4):c.1165C>A (p.P389T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17105522G>T" "" "benign" "" "0000267211" "0" "10" "10" "17171265" "17171265" "subst" "0.910985" "02325" "CUBN_000074" "g.17171265G>C" "" "" "" "CUBN(NM_001081.4):c.123-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17129266G>C" "" "benign" "" "0000267212" "0" "10" "10" "17113563" "17113563" "subst" "0.437195" "02325" "CUBN_000069" "g.17113563C>T" "" "" "" "CUBN(NM_001081.4):c.2487G>A (p.S829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17071564C>T" "" "benign" "" "0000267213" "0" "50" "10" "17113425" "17113425" "subst" "2.44012E-5" "02325" "CUBN_000068" "g.17113425C>A" "" "" "" "CUBN(NM_001081.4):c.2625G>T (p.E875D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17071426C>A" "" "VUS" "" "0000267214" "0" "10" "10" "17110595" "17110595" "subst" "0.855989" "02325" "CUBN_000067" "g.17110595G>A" "" "" "" "CUBN(NM_001081.4):c.2791+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17068596G>A" "" "benign" "" "0000267215" "0" "10" "10" "17024503" "17024503" "subst" "0.771467" "02325" "CUBN_000062" "g.17024503G>A" "" "" "" "CUBN(NM_001081.4):c.4675C>T (p.P1559S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16982504G>A" "" "benign" "" "0000267216" "0" "30" "10" "16989253" "16989253" "subst" "0.000109882" "02325" "CUBN_000061" "g.16989253G>A" "" "" "" "CUBN(NM_001081.4):c.5323C>T (p.R1775W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16947254G>A" "" "likely benign" "" "0000267217" "0" "10" "10" "16979661" "16979661" "subst" "0.463459" "02325" "CUBN_000057" "g.16979661T>C" "" "" "" "CUBN(NM_001081.4):c.5856A>G (p.S1952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16937662T>C" "" "benign" "" "0000267218" "0" "10" "10" "16975078" "16975078" "subst" "0.206659" "02325" "CUBN_000056" "g.16975078G>A" "" "" "" "CUBN(NM_001081.4):c.6124+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16933079G>A" "" "benign" "" "0000267219" "0" "10" "10" "16967401" "16967401" "subst" "0.994274" "02325" "CUBN_000054" "g.16967401C>T" "" "" "" "CUBN(NM_001081.4):c.6485G>A (p.C2162Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16925402C>T" "" "benign" "" "0000267220" "0" "10" "10" "16943371" "16943371" "subst" "0.999996" "02325" "CUBN_000050" "g.16943371G>C" "" "" "" "CUBN(NM_001081.4):c.8150C>G (p.S2717W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16901372G>C" "" "benign" "" "0000267221" "0" "50" "10" "16942635" "16942635" "subst" "0.000609315" "02325" "CUBN_000049" "g.16942635G>A" "" "" "" "CUBN(NM_001081.4):c.8399C>T (p.T2800I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16900636G>A" "" "VUS" "" "0000267222" "0" "10" "10" "16911749" "16911749" "subst" "0.00667696" "02325" "CUBN_000047" "g.16911749C>T" "" "" "" "CUBN(NM_001081.4):c.9340G>A (p.G3114S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16869750C>T" "" "benign" "" "0000267223" "0" "50" "10" "16882533" "16882533" "subst" "0" "02325" "CUBN_000045" "g.16882533C>T" "" "" "" "CUBN(NM_001081.4):c.9828G>A (p.M3276I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16840534C>T" "" "VUS" "" "0000267224" "0" "10" "10" "16882518" "16882518" "subst" "0.700036" "02325" "CUBN_000044" "g.16882518T>C" "" "" "" "CUBN(NM_001081.4):c.9843A>G (p.T3281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16840519T>C" "" "benign" "" "0000268639" "0" "50" "10" "16873308" "16873308" "subst" "4.06213E-6" "02329" "CUBN_000040" "g.16873308T>C" "" "" "" "CUBN(NM_001081.3):c.10471A>G (p.S3491G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16831309T>C" "" "VUS" "" "0000268640" "0" "50" "10" "16870883" "16870883" "subst" "0" "02329" "CUBN_000038" "g.16870883C>T" "" "" "" "CUBN(NM_001081.3):c.10685G>A (p.G3562E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16828884C>T" "" "VUS" "" "0000270653" "0" "10" "10" "17113456" "17113456" "subst" "0.00727512" "02326" "CUBN_000024" "g.17113456C>T" "" "" "" "CUBN(NM_001081.3):c.2594G>A (p.S865N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17071457C>T" "" "benign" "" "0000274616" "0" "30" "10" "16878309" "16878309" "subst" "0.000134151" "01943" "CUBN_000042" "g.16878309T>C" "" "" "" "CUBN(NM_001081.3):c.10105A>G (p.S3369G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16836310T>C" "" "likely benign" "" "0000274617" "0" "10" "10" "16873396" "16873396" "subst" "0.00234862" "01943" "CUBN_000041" "g.16873396G>A" "" "" "" "CUBN(NM_001081.3):c.10383C>T (p.S3461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16831397G>A" "" "benign" "" "0000274618" "0" "50" "10" "16873308" "16873308" "subst" "4.06213E-6" "01943" "CUBN_000040" "g.16873308T>C" "" "" "" "CUBN(NM_001081.3):c.10471A>G (p.S3491G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16831309T>C" "" "VUS" "" "0000274619" "0" "50" "10" "17142211" "17142211" "subst" "5.7E-5" "01943" "CUBN_000071" "g.17142211G>A" "" "" "" "CUBN(NM_001081.3):c.1558C>T (p.R520W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17100212G>A" "" "VUS" "" "0000274620" "0" "10" "10" "17113827" "17113827" "subst" "0.00128372" "01943" "CUBN_000070" "g.17113827G>A" "" "" "" "CUBN(NM_001081.3):c.2445C>T (p.V815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17071828G>A" "" "benign" "" "0000274621" "0" "50" "10" "17110231" "17110231" "subst" "4.06722E-6" "01943" "CUBN_000066" "g.17110231C>T" "" "" "" "CUBN(NM_001081.3):c.2840G>A (p.G947D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17068232C>T" "" "VUS" "" "0000274622" "0" "30" "10" "17089460" "17089460" "subst" "0" "01943" "CUBN_000065" "g.17089460G>A" "" "" "" "CUBN(NM_001081.3):c.3282C>T (p.S1094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17047461G>A" "" "likely benign" "" "0000274623" "0" "30" "10" "17087074" "17087074" "subst" "0.000706783" "01943" "CUBN_000064" "g.17087074C>T" "" "" "" "CUBN(NM_001081.3):c.3604G>A (p.A1202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17045075C>T" "" "likely benign" "" "0000274624" "0" "30" "10" "16982167" "16982167" "subst" "4.06362E-6" "01943" "CUBN_000060" "g.16982167C>A" "" "" "" "CUBN(NM_001081.3):c.5412G>T (p.T1804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16940168C>A" "" "likely benign" "" "0000274625" "0" "30" "10" "16982057" "16982057" "subst" "0.000256195" "01943" "CUBN_000059" "g.16982057G>A" "" "" "" "CUBN(NM_001081.3):c.5522C>T (p.T1841M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16940058G>A" "" "likely benign" "" "0000274626" "0" "50" "10" "16979758" "16979758" "subst" "0" "01943" "CUBN_000058" "g.16979758G>A" "" "" "" "CUBN(NM_001081.3):c.5759C>T (p.A1920V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16937759G>A" "" "VUS" "" "0000274627" "0" "30" "10" "16970285" "16970285" "subst" "0.000329818" "01943" "CUBN_000055" "g.16970285G>C" "" "" "" "CUBN(NM_001081.3):c.6142C>G (p.Q2048E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16928286G>C" "" "likely benign" "" "0000274628" "0" "30" "10" "16960805" "16960805" "subst" "2.04052E-5" "01943" "CUBN_000053" "g.16960805G>A" "" "" "" "CUBN(NM_001081.3):c.6822-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16918806G>A" "" "likely benign" "" "0000274629" "0" "10" "10" "16960697" "16960697" "subst" "0.00215363" "01943" "CUBN_000052" "g.16960697T>A" "" "" "" "CUBN(NM_001081.3):c.6924A>T (p.S2308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16918698T>A" "" "benign" "" "0000274630" "0" "10" "10" "16893406" "16893406" "subst" "0.00180403" "01943" "CUBN_000046" "g.16893406G>C" "" "" "" "CUBN(NM_001081.3):c.9491C>G (p.S3164W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16851407G>C" "" "benign" "" "0000274631" "0" "10" "10" "16882375" "16882375" "subst" "0.00130476" "01943" "CUBN_000043" "g.16882375G>A" "" "" "" "CUBN(NM_001081.3):c.9986C>T (p.S3329L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16840376G>A" "" "benign" "" "0000342107" "0" "90" "10" "16982151" "16982151" "subst" "0.000130042" "02327" "CUBN_000079" "g.16982151G>A" "" "" "" "CUBN(NM_001081.3):c.5428C>T (p.R1810*), CUBN(NM_001081.4):c.5428C>T (p.(Arg1810Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16940152G>A" "" "pathogenic" "" "0000345972" "0" "70" "10" "16918923" "16918923" "subst" "0.000207145" "02327" "CUBN_000078" "g.16918923C>T" "" "" "" "CUBN(NM_001081.3):c.9079G>A (p.G3027R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16876924C>T" "" "likely pathogenic" "" "0000346457" "0" "70" "10" "16877083" "16877083" "subst" "4.06421E-6" "02327" "CUBN_000075" "g.16877083T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16835084T>G" "" "likely pathogenic" "" "0000349462" "0" "10" "10" "16877110" "16877110" "subst" "0.0174675" "02327" "CUBN_000076" "g.16877110G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16835111G>A" "" "benign" "" "0000349970" "0" "90" "10" "17164796" "17164796" "subst" "0" "02327" "CUBN_000080" "g.17164796G>C" "" "" "" "CUBN(NM_001081.3):c.591C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17122797G>C" "" "pathogenic" "" "0000354898" "0" "00" "10" "16916403" "16916403" "subst" "0.00197476" "00687" "CUBN_000081" "g.16916403G>A" "" "{PMID:Lin 2014:25381091}, {DOI:Lin 2014:10.1186/1471-2369-15-175}" "" "C9206T" "" "Germline" "" "" "0" "" "" "g.16874404G>A" "" "VUS" "" "0000539594" "0" "30" "10" "16870927" "16870927" "subst" "0.000503529" "01943" "CUBN_000084" "g.16870927C>T" "" "" "" "CUBN(NM_001081.3):c.10641G>A (p.R3547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16828928C>T" "" "likely benign" "" "0000539595" "0" "30" "10" "16882333" "16882333" "subst" "0.000284724" "01943" "CUBN_000085" "g.16882333G>A" "" "" "" "CUBN(NM_001081.3):c.10028C>T (p.P3343L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16840334G>A" "" "likely benign" "" "0000539596" "0" "30" "10" "16918924" "16918924" "subst" "0.000369603" "01943" "CUBN_000086" "g.16918924G>A" "" "" "" "CUBN(NM_001081.3):c.9078C>T (p.F3026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16876925G>A" "" "likely benign" "" "0000539597" "0" "90" "10" "16918962" "16918963" "del" "0" "02327" "CUBN_000087" "g.16918962_16918963del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16876963_16876964del" "" "pathogenic" "" "0000539598" "0" "50" "10" "16930427" "16930427" "subst" "0.00137765" "01943" "CUBN_000088" "g.16930427A>G" "" "" "" "CUBN(NM_001081.3):c.8894T>C (p.F2965S, p.(Phe2965Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16888428A>G" "" "VUS" "" "0000539599" "0" "50" "10" "16930427" "16930427" "subst" "0.00137765" "01804" "CUBN_000088" "g.16930427A>G" "" "" "" "CUBN(NM_001081.3):c.8894T>C (p.F2965S, p.(Phe2965Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16888428A>G" "" "VUS" "" "0000539600" "0" "30" "10" "16948277" "16948277" "subst" "0.000320791" "01943" "CUBN_000089" "g.16948277T>G" "" "" "" "CUBN(NM_001081.3):c.7837A>C (p.I2613L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16906278T>G" "" "likely benign" "" "0000539601" "0" "30" "10" "16955978" "16955978" "subst" "0.00557011" "01943" "CUBN_000051" "g.16955978A>T" "" "" "" "CUBN(NM_001081.3):c.7365T>A (p.D2455E, p.(Asp2455Glu)), CUBN(NM_001081.4):c.7365T>A (p.D2455E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16913979A>T" "" "likely benign" "" "0000539602" "0" "90" "10" "16957935" "16957935" "subst" "4.06098E-6" "01943" "CUBN_000090" "g.16957935C>T" "" "" "" "CUBN(NM_001081.3):c.7095G>A (p.W2365*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16915936C>T" "" "pathogenic" "" "0000539603" "0" "10" "10" "16960683" "16960683" "subst" "0.00407915" "01943" "CUBN_000091" "g.16960683T>A" "" "" "" "CUBN(NM_001081.3):c.6938A>T (p.Y2313F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16918684T>A" "" "benign" "" "0000539604" "0" "90" "10" "16960688" "16960694" "del" "0" "02327" "CUBN_000092" "g.16960688_16960694del" "" "" "" "CUBN(NM_001081.3):c.6928_6934delGAGGTTA (p.E2310Cfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16918689_16918695del" "" "pathogenic" "" "0000539606" "0" "50" "10" "16967681" "16967681" "subst" "0.000101574" "01943" "CUBN_000094" "g.16967681C>T" "" "" "" "CUBN(NM_001081.3):c.6364G>A (p.V2122I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16925682C>T" "" "VUS" "" "0000539607" "0" "70" "10" "16979677" "16979677" "subst" "0.000272624" "02327" "CUBN_000095" "g.16979677G>T" "" "" "" "CUBN(NM_001081.3):c.5840C>A (p.S1947Y, p.(Ser1947Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16937678G>T" "" "likely pathogenic" "" "0000539608" "0" "10" "10" "16979714" "16979714" "subst" "0.146075" "02325" "CUBN_000096" "g.16979714T>C" "" "" "" "CUBN(NM_001081.4):c.5803A>G (p.S1935G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16937715T>C" "" "benign" "" "0000539609" "0" "30" "10" "16981015" "16981015" "subst" "0.00106858" "01943" "CUBN_000097" "g.16981015T>C" "" "" "" "CUBN(NM_001081.3):c.5680A>G (p.I1894V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16939016T>C" "" "likely benign" "" "0000539610" "0" "50" "10" "16981069" "16981069" "subst" "0.000138131" "01943" "CUBN_000098" "g.16981069A>C" "" "" "" "CUBN(NM_001081.3):c.5626T>G (p.S1876A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16939070A>C" "" "VUS" "" "0000539611" "0" "10" "10" "16982061" "16982061" "subst" "0.0761529" "02326" "CUBN_000099" "g.16982061C>T" "" "" "" "CUBN(NM_001081.3):c.5518G>A (p.G1840S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16940062C>T" "" "benign" "" "0000539612" "0" "10" "10" "16990479" "16990479" "subst" "0.000748284" "01943" "CUBN_000100" "g.16990479G>A" "" "" "" "CUBN(NM_001081.3):c.5207C>T (p.S1736L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16948480G>A" "" "benign" "" "0000539615" "0" "50" "10" "17087048" "17087048" "subst" "4.06194E-6" "01943" "CUBN_000103" "g.17087048A>C" "" "" "" "CUBN(NM_001081.3):c.3630T>G (p.F1210L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17045049A>C" "" "VUS" "" "0000539616" "0" "50" "10" "17088049" "17088049" "subst" "4.06488E-6" "02327" "CUBN_000104" "g.17088049C>A" "" "" "" "CUBN(NM_001081.3):c.3374G>T (p.G1125V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17046050C>A" "" "VUS" "" "0000539617" "0" "10" "10" "17089450" "17089450" "subst" "0.00092631" "01943" "CUBN_000105" "g.17089450C>A" "" "" "" "CUBN(NM_001081.3):c.3292G>T (p.A1098S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17047451C>A" "" "benign" "" "0000539618" "0" "30" "10" "17110639" "17110639" "subst" "0.00399883" "01943" "CUBN_000106" "g.17110639T>C" "" "" "" "CUBN(NM_001081.3):c.2756A>G (p.H919R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17068640T>C" "" "likely benign" "" "0000539619" "0" "50" "10" "17130330" "17130330" "subst" "0" "01943" "CUBN_000107" "g.17130330G>C" "" "" "" "CUBN(NM_001081.3):c.1780C>G (p.L594V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17088331G>C" "" "VUS" "" "0000539620" "0" "50" "10" "17142232" "17142232" "subst" "1.63457E-5" "01943" "CUBN_000108" "g.17142232G>A" "" "" "" "CUBN(NM_001081.3):c.1537C>T (p.R513C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17100233G>A" "" "VUS" "" "0000539621" "0" "30" "10" "17145184" "17145184" "subst" "0.000682494" "01943" "CUBN_000109" "g.17145184C>T" "" "" "" "CUBN(NM_001081.3):c.1470G>A (p.P490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17103185C>T" "" "likely benign" "" "0000539622" "0" "50" "10" "17151662" "17151662" "subst" "0.000369561" "01943" "CUBN_000110" "g.17151662T>C" "" "" "" "CUBN(NM_001081.3):c.1088A>G (p.D363G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17109663T>C" "" "VUS" "" "0000539623" "0" "10" "10" "17152930" "17152930" "subst" "0.000885452" "01943" "CUBN_000111" "g.17152930C>T" "" "" "" "CUBN(NM_001081.3):c.1003G>A (p.A335T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17110931C>T" "" "benign" "" "0000539624" "0" "30" "10" "17156173" "17156173" "subst" "9.38875E-5" "01943" "CUBN_000112" "g.17156173C>T" "" "" "" "CUBN(NM_001081.3):c.736G>A (p.V246I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17114174C>T" "" "likely benign" "" "0000612381" "0" "90" "10" "16942762" "16942762" "del" "0" "02327" "CUBN_000113" "g.16942762del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16900763del" "" "pathogenic" "" "0000612382" "0" "30" "10" "16957051" "16957051" "subst" "2.43696E-5" "01943" "CUBN_000114" "g.16957051C>T" "" "" "" "CUBN(NM_001081.3):c.7331G>A (p.R2444Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16915052C>T" "" "likely benign" "" "0000612383" "0" "30" "10" "16962122" "16962122" "subst" "0.000370123" "01943" "CUBN_000115" "g.16962122C>T" "" "" "" "CUBN(NM_001081.3):c.6661G>A (p.V2221I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16920123C>T" "" "likely benign" "" "0000612385" "0" "90" "10" "17061837" "17061837" "del" "0" "02325" "CUBN_000118" "g.17061837del" "" "" "" "CUBN(NM_001081.4):c.4165delT (p.Y1389Tfs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17019838del" "" "pathogenic" "" "0000612386" "0" "50" "10" "17061969" "17061969" "subst" "8.13915E-5" "01943" "CUBN_000119" "g.17061969G>C" "" "" "" "CUBN(NM_001081.3):c.4031C>G (p.P1344R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17019970G>C" "" "VUS" "" "0000612387" "0" "30" "10" "17088069" "17088069" "subst" "0" "01943" "CUBN_000120" "g.17088069T>C" "" "" "" "CUBN(NM_001081.3):c.3354A>G (p.P1118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17046070T>C" "" "likely benign" "" "0000612388" "0" "50" "10" "17089531" "17089531" "subst" "0" "02325" "CUBN_000121" "g.17089531T>C" "" "" "" "CUBN(NM_001081.4):c.3211A>G (p.N1071D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17047532T>C" "" "VUS" "" "0000612389" "0" "30" "10" "17146599" "17146599" "subst" "0.000236998" "01943" "CUBN_000122" "g.17146599A>G" "" "" "" "CUBN(NM_001081.3):c.1236T>C (p.T412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17104600A>G" "" "likely benign" "" "0000622362" "0" "50" "10" "16979586" "16979586" "subst" "0.000545794" "01943" "CUBN_000117" "g.16979586C>T" "" "" "" "CUBN(NM_001081.3):c.5926+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16937587C>T" "" "VUS" "" "0000647863" "1" "30" "10" "16877110" "16877110" "subst" "0.0174675" "03575" "CUBN_000076" "g.16877110G>A" "12/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs1801230}" "Germline" "" "rs1801230" "0" "" "" "g.16835111G>A" "" "likely benign" "" "0000647864" "1" "10" "10" "16911749" "16911749" "subst" "0.00667696" "03575" "CUBN_000047" "g.16911749C>T" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs117035284}" "Germline" "" "rs117035284" "0" "" "" "g.16869750C>T" "" "benign" "" "0000647865" "1" "50" "10" "16930427" "16930427" "subst" "0.00137765" "03575" "CUBN_000088" "g.16930427A>G" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs117620008}" "Germline" "" "rs117620008" "0" "" "" "g.16888428A>G" "" "VUS" "" "0000647866" "1" "30" "10" "16932384" "16932384" "subst" "0.0126722" "03575" "CUBN_000123" "g.16932384G>A" "76/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "76 heterozygous, no homozygous; {DB:CLININrs45551835}" "Germline" "" "rs45551835" "0" "" "" "g.16890385G>A" "" "likely benign" "" "0000647867" "1" "30" "10" "16932490" "16932490" "subst" "0.0282264" "03575" "CUBN_000124" "g.16932490G>T" "130/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "130 heterozygous; {DB:CLININrs1801238}" "Germline" "" "rs1801238" "0" "" "" "g.16890491G>T" "" "likely benign" "" "0000647868" "1" "30" "10" "16960683" "16960683" "subst" "0.00407915" "03575" "CUBN_000091" "g.16960683T>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs140806389}" "Germline" "" "rs140806389" "0" "" "" "g.16918684T>A" "" "likely benign" "" "0000647869" "1" "30" "10" "16979593" "16979593" "subst" "0.015585" "03575" "CUBN_000125" "g.16979593G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs41289303}" "Germline" "" "rs41289303" "0" "" "" "g.16937594G>A" "" "likely benign" "" "0000647870" "1" "10" "10" "16979606" "16979606" "subst" "0.0672518" "03575" "CUBN_000126" "g.16979606G>T" "208/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "208 heterozygous; {DB:CLININrs2356590}" "Germline" "" "rs2356590" "0" "" "" "g.16937607G>T" "" "benign" "" "0000647871" "1" "10" "10" "16982061" "16982061" "subst" "0.0761529" "03575" "CUBN_000099" "g.16982061C>T" "206/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "206 heterozygous; {DB:CLININrs2271462}" "Germline" "" "rs2271462" "0" "" "" "g.16940062C>T" "" "benign" "" "0000647872" "1" "10" "10" "16990552" "16990552" "subst" "0.0758671" "03575" "CUBN_000127" "g.16990552G>A" "208/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "208 heterozygous; {DB:CLININrs2271468}" "Germline" "" "rs2271468" "0" "" "" "g.16948553G>A" "" "benign" "" "0000647873" "1" "30" "10" "17171176" "17171176" "subst" "0.00569327" "03575" "CUBN_000128" "g.17171176C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs12259370}" "Germline" "" "rs12259370" "0" "" "" "g.17129177C>T" "" "likely benign" "" "0000656452" "0" "10" "10" "16873396" "16873396" "subst" "0.00234862" "02326" "CUBN_000041" "g.16873396G>A" "" "" "" "CUBN(NM_001081.3):c.10383C>T (p.S3461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16831397G>A" "" "benign" "" "0000656454" "0" "50" "10" "16994280" "16994280" "subst" "0.000219512" "01943" "CUBN_000130" "g.16994280G>C" "" "" "" "CUBN(NM_001081.3):c.4964C>G (p.P1655R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16952281G>C" "" "VUS" "" "0000656455" "0" "30" "10" "17061942" "17061942" "subst" "0.000109822" "01943" "CUBN_000131" "g.17061942A>T" "" "" "" "CUBN(NM_001081.3):c.4058T>A (p.V1353E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17019943A>T" "" "likely benign" "" "0000656456" "0" "50" "10" "17110657" "17110657" "subst" "0.000126055" "01943" "CUBN_000132" "g.17110657C>G" "" "" "" "CUBN(NM_001081.3):c.2738G>C (p.S913T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17068658C>G" "" "VUS" "" "0000669051" "3" "30" "10" "16932490" "16932490" "subst" "0.0282264" "03575" "CUBN_000124" "g.16932490G>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs1801238}" "Germline" "" "rs1801238" "0" "" "" "g.16890491G>T" "" "likely benign" "" "0000669052" "3" "10" "10" "16979606" "16979606" "subst" "0.0672518" "03575" "CUBN_000126" "g.16979606G>T" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 homozygous; {DB:CLININrs2356590}" "Germline" "" "rs2356590" "0" "" "" "g.16937607G>T" "" "benign" "" "0000669053" "3" "10" "10" "16982061" "16982061" "subst" "0.0761529" "03575" "CUBN_000099" "g.16982061C>T" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 homozygous; {DB:CLININrs2271462}" "Germline" "" "rs2271462" "0" "" "" "g.16940062C>T" "" "benign" "" "0000669054" "3" "10" "10" "16990552" "16990552" "subst" "0.0758671" "03575" "CUBN_000127" "g.16990552G>A" "18/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 homozygous; {DB:CLININrs2271468}" "Germline" "" "rs2271468" "0" "" "" "g.16948553G>A" "" "benign" "" "0000678812" "0" "30" "10" "16919034" "16919034" "subst" "0.000593728" "01943" "CUBN_000133" "g.16919034C>T" "" "" "" "CUBN(NM_001081.3):c.8968G>A (p.V2990I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678813" "0" "50" "10" "16943442" "16943442" "subst" "0" "01943" "CUBN_000134" "g.16943442C>G" "" "" "" "CUBN(NM_001081.3):c.8079G>C (p.Q2693H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678814" "0" "30" "10" "16945980" "16945980" "subst" "0" "01943" "CUBN_000135" "g.16945980T>G" "" "" "" "CUBN(NM_001081.3):c.8047A>C (p.K2683Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678815" "0" "30" "10" "16948412" "16948412" "subst" "0.000483956" "01943" "CUBN_000136" "g.16948412A>G" "" "" "" "CUBN(NM_001081.3):c.7706-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678816" "0" "30" "10" "17061908" "17061908" "subst" "7.7271E-5" "01943" "CUBN_000137" "g.17061908G>C" "" "" "" "CUBN(NM_001081.3):c.4092C>G (p.S1364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678817" "0" "50" "10" "17113589" "17113589" "subst" "5.71793E-5" "01943" "CUBN_000138" "g.17113589A>C" "" "" "" "CUBN(NM_001081.3):c.2461T>G (p.L821V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678818" "0" "50" "10" "17142163" "17142163" "subst" "7.72389E-5" "01943" "CUBN_000139" "g.17142163C>T" "" "" "" "CUBN(NM_001081.3):c.1606G>A (p.D536N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690689" "0" "30" "10" "16930410" "16930410" "subst" "0" "01943" "CUBN_000140" "g.16930410A>G" "" "" "" "CUBN(NM_001081.3):c.8905+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690691" "0" "30" "10" "16990490" "16990490" "subst" "0.0001586" "01943" "CUBN_000101" "g.16990490G>A" "" "" "" "CUBN(NM_001081.3):c.5196C>T (p.T1732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690692" "0" "90" "10" "17026104" "17026104" "del" "0" "02327" "CUBN_000142" "g.17026104del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690693" "0" "30" "10" "17032483" "17032483" "subst" "0.00039816" "01943" "CUBN_000102" "g.17032483G>A" "" "" "" "CUBN(NM_001081.3):c.4200C>T (p.G1400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690694" "0" "30" "10" "17087183" "17087183" "subst" "0.000178961" "01943" "CUBN_000143" "g.17087183G>A" "" "" "" "CUBN(NM_001081.3):c.3495C>T (p.C1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690695" "0" "90" "10" "17088067" "17088067" "subst" "0" "01943" "CUBN_000144" "g.17088067A>T" "" "" "" "CUBN(NM_001081.3):c.3356T>A (p.L1119*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722760" "0" "50" "10" "16916413" "16916413" "subst" "4.06326E-6" "01943" "CUBN_000146" "g.16916413A>G" "" "" "" "CUBN(NM_001081.3):c.9196T>C (p.Y3066H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722761" "0" "50" "10" "16918948" "16918948" "subst" "0" "01943" "CUBN_000147" "g.16918948G>T" "" "" "" "CUBN(NM_001081.3):c.9054C>A (p.Y3018*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722762" "0" "30" "10" "16960671" "16960671" "subst" "2.84446E-5" "01943" "CUBN_000148" "g.16960671C>T" "" "" "" "CUBN(NM_001081.3):c.6950G>A (p.R2317Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722763" "0" "30" "10" "16990490" "16990490" "subst" "0.0001586" "02326" "CUBN_000101" "g.16990490G>A" "" "" "" "CUBN(NM_001081.3):c.5196C>T (p.T1732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722764" "0" "50" "10" "16992011" "16992011" "subst" "0.00173221" "01943" "CUBN_000149" "g.16992011G>A" "" "" "" "CUBN(NM_001081.3):c.5069C>T (p.A1690V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722765" "0" "30" "10" "16992011" "16992011" "subst" "0.00173221" "02326" "CUBN_000149" "g.16992011G>A" "" "" "" "CUBN(NM_001081.3):c.5069C>T (p.A1690V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722766" "0" "50" "10" "17026206" "17026206" "subst" "2.84266E-5" "01943" "CUBN_000150" "g.17026206T>C" "" "" "" "CUBN(NM_001081.3):c.4423A>G (p.M1475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722767" "0" "30" "10" "17032483" "17032483" "subst" "0.00039816" "02326" "CUBN_000102" "g.17032483G>A" "" "" "" "CUBN(NM_001081.3):c.4200C>T (p.G1400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722768" "0" "30" "10" "17083061" "17083061" "subst" "0.000130076" "01943" "CUBN_000151" "g.17083061G>A" "" "" "" "CUBN(NM_001081.3):c.3988C>T (p.H1330Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722769" "0" "30" "10" "17085909" "17085909" "subst" "0.000105666" "01943" "CUBN_000152" "g.17085909C>T" "" "" "" "CUBN(NM_001081.3):c.3746G>A (p.R1249H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000792260" "0" "30" "10" "17171245" "17171245" "subst" "1.62631E-5" "00000" "CUBN_000153" "g.17171245G>A" "" "{PMID:_Audo-2012:22277662}" "" "c.127C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000792261" "0" "30" "10" "16911749" "16911749" "subst" "0.00667696" "00000" "CUBN_000047" "g.16911749C>T" "" "{PMID:_Audo-2012:22277662}" "" "c.9340G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000804364" "0" "30" "10" "16867011" "16867011" "subst" "0.000126361" "01943" "CUBN_000154" "g.16867011C>T" "" "" "" "CUBN(NM_001081.3):c.10835G>A (p.R3612Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804365" "0" "50" "10" "16867012" "16867012" "subst" "0.000407604" "01943" "CUBN_000155" "g.16867012G>A" "" "" "" "CUBN(NM_001081.3):c.10834C>T (p.R3612W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804366" "0" "30" "10" "16919081" "16919081" "subst" "0.00166754" "02326" "CUBN_000156" "g.16919081G>A" "" "" "" "CUBN(NM_001081.3):c.8921C>T (p.T2974M), CUBN(NM_001081.4):c.8921C>T (p.(Thr2974Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804367" "0" "50" "10" "16932484" "16932484" "subst" "0" "01943" "CUBN_000157" "g.16932484T>C" "" "" "" "CUBN(NM_001081.3):c.8641A>G (p.T2881A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804368" "0" "50" "10" "16949563" "16949563" "subst" "2.03031E-5" "02326" "CUBN_000158" "g.16949563T>C" "" "" "" "CUBN(NM_001081.3):c.7649A>G (p.D2550G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804369" "0" "30" "10" "16957036" "16957036" "subst" "0.00404972" "02326" "CUBN_000082" "g.16957036A>G" "" "" "" "CUBN(NM_001081.3):c.7346T>C (p.M2449T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804370" "0" "30" "10" "16957811" "16957811" "subst" "0.000703309" "01943" "CUBN_000159" "g.16957811T>C" "" "" "" "CUBN(NM_001081.3):c.7210+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804371" "0" "90" "10" "16962119" "16962137" "del" "0" "02325" "CUBN_000160" "g.16962119_16962137del" "" "" "" "CUBN(NM_001081.4):c.6647-1_6664delGCCTGTGGGGGCAACGTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804372" "0" "30" "10" "16975243" "16975243" "subst" "0.000223745" "02326" "CUBN_000161" "g.16975243C>G" "" "" "" "CUBN(NM_001081.3):c.5967G>C (p.=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804373" "0" "50" "10" "16979677" "16979677" "subst" "0.000272624" "01943" "CUBN_000095" "g.16979677G>T" "" "" "" "CUBN(NM_001081.3):c.5840C>A (p.S1947Y, p.(Ser1947Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804374" "0" "30" "10" "16981115" "16981115" "subst" "4.06369E-6" "01943" "CUBN_000162" "g.16981115A>G" "" "" "" "CUBN(NM_001081.3):c.5580T>C (p.H1860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804375" "0" "50" "10" "16990602" "16990602" "subst" "3.66452E-5" "01943" "CUBN_000163" "g.16990602C>T" "" "" "" "CUBN(NM_001081.3):c.5084G>A (p.R1695H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804376" "0" "90" "10" "16994384" "16994384" "subst" "0" "01943" "CUBN_000164" "g.16994384G>T" "" "" "" "CUBN(NM_001081.3):c.4860C>A (p.C1620*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804377" "0" "30" "10" "17088067" "17088067" "subst" "0.00124796" "01943" "CUBN_000165" "g.17088067A>G" "" "" "" "CUBN(NM_001081.3):c.3356T>C (p.L1119S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804378" "0" "30" "10" "17110764" "17110764" "subst" "1.221E-5" "01943" "CUBN_000166" "g.17110764A>G" "" "" "" "CUBN(NM_001081.3):c.2631T>C (p.G877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804379" "0" "30" "10" "17152930" "17152930" "subst" "0.000885452" "02326" "CUBN_000111" "g.17152930C>T" "" "" "" "CUBN(NM_001081.3):c.1003G>A (p.A335T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804380" "0" "30" "10" "17157612" "17157612" "subst" "0.000211406" "02326" "CUBN_000167" "g.17157612G>A" "" "" "" "CUBN(NM_001081.3):c.594-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000832706" "20" "70" "10" "16948208" "16948208" "subst" "9.33949E-5" "00000" "CUBN_000169" "g.16948208G>A" "" "{PMID:Mejecase 2019:30267408}" "" "[M4] CUBN c.7906C>T, p.(Arg2636*)" "heterozygous" "Germline" "yes" "rs137998687" "0" "" "" "g.16906209G>A" "" "likely pathogenic" "" "0000832707" "11" "70" "10" "16877031" "16877031" "subst" "0" "00000" "CUBN_000168" "g.16877031G>C" "" "{PMID:Mejecase 2019:30267408}" "" "[M5] CUBN c.10344C>G, p.(Cys3448Trp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16835032G>C" "" "likely pathogenic" "" "0000832714" "20" "70" "10" "16948208" "16948208" "subst" "9.33949E-5" "00000" "CUBN_000169" "g.16948208G>A" "" "{PMID:Mejecase 2019:30267408}" "" "[M4] CUBN c.7906C>T, p.(Arg2636*)" "heterozygous" "Germline" "yes" "rs137998687" "0" "" "" "g.16906209G>A" "" "likely pathogenic" "" "0000832715" "11" "70" "10" "16877031" "16877031" "subst" "0" "00000" "CUBN_000168" "g.16877031G>C" "" "{PMID:Mejecase 2019:30267408}" "" "[M5] CUBN c.10344C>G, p.(Cys3448Trp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16835032G>C" "" "likely pathogenic" "" "0000852448" "0" "30" "10" "16870993" "16870993" "subst" "0.00127972" "02326" "CUBN_000170" "g.16870993G>A" "" "" "" "CUBN(NM_001081.3):c.10575C>T (p.P3525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852449" "0" "30" "10" "16882374" "16882374" "subst" "0.000430873" "02326" "CUBN_000171" "g.16882374C>T" "" "" "" "CUBN(NM_001081.3):c.9987G>A (p.S3329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852450" "0" "50" "10" "16882952" "16882952" "subst" "7.31273E-5" "01943" "CUBN_000172" "g.16882952G>A" "" "" "" "CUBN(NM_001081.3):c.9758C>T (p.T3253M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852451" "0" "10" "10" "16893332" "16893332" "subst" "0.00321511" "02326" "CUBN_000173" "g.16893332T>C" "" "" "" "CUBN(NM_001081.3):c.9565A>G (p.I3189V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852452" "0" "10" "10" "16893406" "16893406" "subst" "0.00180403" "02326" "CUBN_000046" "g.16893406G>C" "" "" "" "CUBN(NM_001081.3):c.9491C>G (p.S3164W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852453" "0" "30" "10" "16960809" "16960809" "subst" "0" "01943" "CUBN_000175" "g.16960809G>A" "" "" "" "CUBN(NM_001081.3):c.6822-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852454" "0" "30" "10" "16967222" "16967222" "subst" "8.96233E-5" "02326" "CUBN_000176" "g.16967222C>A" "" "" "" "CUBN(NM_001081.3):c.6646+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852455" "0" "30" "10" "17083054" "17083054" "subst" "0.000130106" "02326" "CUBN_000178" "g.17083054T>C" "" "" "" "CUBN(NM_001081.3):c.3995A>G (p.N1332S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852456" "0" "30" "10" "17085909" "17085909" "subst" "0.000105666" "02326" "CUBN_000152" "g.17085909C>T" "" "" "" "CUBN(NM_001081.3):c.3746G>A (p.R1249H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852457" "0" "10" "10" "17089450" "17089450" "subst" "0.00092631" "02326" "CUBN_000105" "g.17089450C>A" "" "" "" "CUBN(NM_001081.3):c.3292G>T (p.A1098S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852458" "0" "30" "10" "17110722" "17110722" "subst" "0.000162723" "02326" "CUBN_000179" "g.17110722G>A" "" "" "" "CUBN(NM_001081.3):c.2673C>T (p.C891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852459" "0" "30" "10" "17126252" "17126252" "subst" "0.00024007" "02326" "CUBN_000181" "g.17126252T>C" "" "" "" "CUBN(NM_001081.3):c.2301+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852460" "0" "30" "10" "17142088" "17142088" "subst" "0.000471545" "02326" "CUBN_000183" "g.17142088C>T" "" "" "" "CUBN(NM_001081.3):c.1681G>A (p.D561N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852461" "0" "30" "10" "17145184" "17145184" "subst" "0.000682494" "02326" "CUBN_000109" "g.17145184C>T" "" "" "" "CUBN(NM_001081.3):c.1470G>A (p.P490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852462" "0" "90" "10" "17171122" "17171122" "subst" "0" "01943" "CUBN_000003" "g.17171122G>A" "" "" "" "CUBN(NM_001081.3):c.250C>T (p.Q84*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861875" "0" "30" "10" "16867012" "16867012" "subst" "0.000407604" "02326" "CUBN_000155" "g.16867012G>A" "" "" "" "CUBN(NM_001081.3):c.10834C>T (p.R3612W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861876" "0" "10" "10" "16943382" "16943382" "subst" "0.000828574" "02326" "CUBN_000174" "g.16943382G>T" "" "" "" "CUBN(NM_001081.3):c.8139C>A (p.T2713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861877" "0" "90" "10" "16982151" "16982151" "subst" "0.000130042" "01943" "CUBN_000079" "g.16982151G>A" "" "" "" "CUBN(NM_001081.3):c.5428C>T (p.R1810*), CUBN(NM_001081.4):c.5428C>T (p.(Arg1810Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861878" "0" "30" "10" "16990497" "16990497" "subst" "0.000199242" "01943" "CUBN_000177" "g.16990497G>A" "" "" "" "CUBN(NM_001081.3):c.5189C>T (p.T1730M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861879" "0" "30" "10" "17113814" "17113815" "del" "0" "02326" "CUBN_000180" "g.17113814_17113815del" "" "" "" "CUBN(NM_001081.3):c.2446+14_2446+15delTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861880" "0" "50" "10" "17130339" "17130339" "subst" "5.69319E-5" "01943" "CUBN_000182" "g.17130339C>T" "" "" "" "CUBN(NM_001081.3):c.1771G>A (p.G591R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861881" "0" "30" "10" "17147586" "17147586" "subst" "8.16093E-6" "02326" "CUBN_000184" "g.17147586T>C" "" "" "" "CUBN(NM_001081.3):c.1112-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889084" "0" "30" "10" "16870912" "16870912" "subst" "0.001198" "02326" "CUBN_000186" "g.16870912G>A" "" "" "" "CUBN(NM_001081.3):c.10656C>T (p.N3552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889085" "0" "30" "10" "16873244" "16873244" "subst" "0" "02326" "CUBN_000187" "g.16873244G>T" "" "" "" "CUBN(NM_001081.3):c.10528+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889086" "0" "30" "10" "16882375" "16882375" "subst" "0.00130476" "02326" "CUBN_000043" "g.16882375G>A" "" "" "" "CUBN(NM_001081.3):c.9986C>T (p.S3329L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889087" "0" "30" "10" "16883005" "16883005" "subst" "9.34587E-5" "02326" "CUBN_000188" "g.16883005C>T" "" "" "" "CUBN(NM_001081.3):c.9705G>A (p.T3235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889088" "0" "30" "10" "16916484" "16916484" "subst" "0.000861719" "02326" "CUBN_000189" "g.16916484T>C" "" "" "" "CUBN(NM_001081.3):c.9125A>G (p.N3042S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889089" "0" "30" "10" "16930513" "16930513" "subst" "8.1242E-6" "02326" "CUBN_000190" "g.16930513G>A" "" "" "" "CUBN(NM_001081.3):c.8808C>T (p.Y2936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889090" "0" "30" "10" "16932454" "16932454" "subst" "0.00195749" "02326" "CUBN_000191" "g.16932454C>T" "" "" "" "CUBN(NM_001081.3):c.8671G>A (p.V2891I), CUBN(NM_001081.4):c.8671G>A (p.(Val2891Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889091" "0" "30" "10" "16941196" "16941196" "subst" "0.000609736" "02326" "CUBN_000192" "g.16941196A>G" "" "" "" "CUBN(NM_001081.3):c.8411-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889092" "0" "30" "10" "16957811" "16957811" "subst" "0.000703309" "02326" "CUBN_000159" "g.16957811T>C" "" "" "" "CUBN(NM_001081.3):c.7210+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889093" "0" "30" "10" "16957918" "16957918" "subst" "0.000154311" "02326" "CUBN_000193" "g.16957918G>A" "" "" "" "CUBN(NM_001081.3):c.7112C>T (p.S2371F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889094" "0" "30" "10" "16957923" "16957923" "subst" "6.09122E-5" "02326" "CUBN_000194" "g.16957923C>T" "" "" "" "CUBN(NM_001081.3):c.7107G>A (p.G2369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889095" "0" "10" "10" "16960683" "16960683" "subst" "0.00407915" "02326" "CUBN_000091" "g.16960683T>A" "" "" "" "CUBN(NM_001081.3):c.6938A>T (p.Y2313F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889096" "0" "30" "10" "16960697" "16960697" "subst" "0.00215363" "02326" "CUBN_000052" "g.16960697T>A" "" "" "" "CUBN(NM_001081.3):c.6924A>T (p.S2308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889097" "0" "30" "10" "16975302" "16975302" "subst" "9.0158E-5" "02326" "CUBN_000195" "g.16975302C>T" "" "" "" "CUBN(NM_001081.3):c.5927-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889098" "0" "30" "10" "16982155" "16982155" "subst" "7.721E-5" "02326" "CUBN_000196" "g.16982155C>A" "" "" "" "CUBN(NM_001081.3):c.5424G>T (p.V1808=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889099" "0" "30" "10" "16990556" "16990556" "subst" "9.35667E-5" "02326" "CUBN_000197" "g.16990556G>A" "" "" "" "CUBN(NM_001081.3):c.5130C>T (p.S1710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889100" "0" "30" "10" "16992007" "16992007" "subst" "0.000110065" "02326" "CUBN_000198" "g.16992007G>C" "" "" "" "CUBN(NM_001081.3):c.5073C>G (p.P1691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889101" "0" "30" "10" "16992069" "16992069" "subst" "0.000585599" "02326" "CUBN_000199" "g.16992069T>G" "" "" "" "CUBN(NM_001081.3):c.5011A>C (p.R1671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889102" "0" "30" "10" "16996563" "16996563" "subst" "0.0010782" "02326" "CUBN_000200" "g.16996563C>A" "" "" "" "CUBN(NM_001081.3):c.4696-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889103" "0" "30" "10" "17127630" "17127630" "subst" "0" "02326" "CUBN_000201" "g.17127630G>A" "" "" "" "CUBN(NM_001081.3):c.2076C>T (p.D692=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889104" "0" "30" "10" "17130364" "17130364" "subst" "0" "02326" "CUBN_000202" "g.17130364T>C" "" "" "" "CUBN(NM_001081.3):c.1766-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889105" "0" "90" "10" "17152933" "17152933" "subst" "0" "02326" "CUBN_000145" "g.17152933G>A" "" "" "" "CUBN(NM_001081.3):c.1000C>T (p.Q334*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889106" "0" "10" "10" "17152970" "17152970" "subst" "0.00162901" "02326" "CUBN_000203" "g.17152970G>A" "" "" "" "CUBN(NM_001081.3):c.963C>T (p.P321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889107" "0" "30" "10" "17157533" "17157533" "subst" "0.00146224" "02326" "CUBN_000204" "g.17157533C>T" "" "" "" "CUBN(NM_001081.3):c.657G>A (p.G219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889108" "0" "30" "10" "17157609" "17157609" "subst" "2.43914E-5" "02326" "CUBN_000205" "g.17157609C>T" "" "" "" "CUBN(NM_001081.3):c.594-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889109" "0" "30" "10" "17169811" "17169811" "subst" "0.00115145" "02326" "CUBN_000206" "g.17169811G>A" "" "" "" "CUBN(NM_001081.3):c.348+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913249" "0" "30" "10" "16911822" "16911822" "subst" "6.90866E-5" "02326" "CUBN_000207" "g.16911822G>A" "" "" "" "CUBN(NM_001081.3):c.9267C>T (p.T3089=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913250" "0" "30" "10" "16942755" "16942755" "subst" "0.00049163" "02326" "CUBN_000208" "g.16942755A>G" "" "" "" "CUBN(NM_001081.3):c.8279T>C (p.I2760T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913251" "0" "30" "10" "16948215" "16948215" "subst" "1.21819E-5" "02326" "CUBN_000209" "g.16948215G>A" "" "" "" "CUBN(NM_001081.3):c.7899C>T (p.L2633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913252" "0" "30" "10" "16967564" "16967564" "subst" "0.00116359" "02326" "CUBN_000210" "g.16967564G>C" "" "" "" "CUBN(NM_001081.3):c.6462+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913253" "0" "30" "10" "16967769" "16967769" "subst" "0.00277834" "02326" "CUBN_000211" "g.16967769G>A" "" "" "" "CUBN(NM_001081.3):c.6276C>T (p.C2092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913254" "0" "30" "10" "17110285" "17110285" "subst" "0.000370956" "02326" "CUBN_000212" "g.17110285G>C" "" "" "" "CUBN(NM_001081.3):c.2792-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913255" "0" "30" "10" "17126389" "17126389" "subst" "0.000699557" "02326" "CUBN_000213" "g.17126389A>G" "" "" "" "CUBN(NM_001081.3):c.2182T>C (p.F728L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913256" "0" "30" "10" "17127603" "17127603" "subst" "0.00075169" "02326" "CUBN_000214" "g.17127603T>C" "" "" "" "CUBN(NM_001081.3):c.2103A>G (p.T701=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913257" "0" "30" "10" "17147522" "17147522" "subst" "0" "02326" "CUBN_000215" "g.17147522C>T" "" "" "" "CUBN(NM_001081.3):c.1164G>A (p.G388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913258" "0" "30" "10" "17156118" "17156118" "subst" "0.000187737" "02326" "CUBN_000216" "g.17156118C>G" "" "" "" "CUBN(NM_001081.3):c.791G>C (p.R264T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925137" "0" "90" "10" "16941096" "16941096" "del" "4.06085E-6" "02326" "CUBN_000218" "g.16941096del" "" "" "" "CUBN(NM_001081.3):c.8497delT (p.W2833Gfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925138" "0" "70" "10" "16970304" "16970304" "subst" "0.000611431" "02327" "CUBN_000219" "g.16970304T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925139" "0" "30" "10" "16994372" "16994372" "subst" "0.00220218" "02326" "CUBN_000220" "g.16994372G>A" "" "" "" "CUBN(NM_001081.3):c.4872C>T (p.I1624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925140" "0" "30" "10" "17024556" "17024556" "subst" "0" "02326" "CUBN_000221" "g.17024556C>T" "" "" "" "CUBN(NM_001081.3):c.4622G>A (p.R1541Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925141" "0" "30" "10" "17088067" "17088067" "subst" "0.00124796" "02326" "CUBN_000165" "g.17088067A>G" "" "" "" "CUBN(NM_001081.3):c.3356T>C (p.L1119S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925142" "0" "30" "10" "17113827" "17113827" "subst" "0.00128372" "02326" "CUBN_000070" "g.17113827G>A" "" "" "" "CUBN(NM_001081.3):c.2445C>T (p.V815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929660" "0" "30" "10" "16916365" "16916365" "subst" "0.000447093" "02326" "CUBN_000222" "g.16916365T>C" "" "" "" "CUBN(NM_001081.3):c.9236+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929661" "0" "30" "10" "16916403" "16916403" "subst" "0.00197476" "02326" "CUBN_000081" "g.16916403G>A" "" "" "" "CUBN(NM_001081.3):c.9206C>T (p.T3069I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929662" "0" "30" "10" "16919034" "16919034" "subst" "0.000593728" "02326" "CUBN_000133" "g.16919034C>T" "" "" "" "CUBN(NM_001081.3):c.8968G>A (p.V2990I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929663" "0" "30" "10" "16946056" "16946056" "subst" "8.12321E-5" "02326" "CUBN_000223" "g.16946056T>C" "" "" "" "CUBN(NM_001081.3):c.7971A>G (p.P2657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929664" "0" "30" "10" "16948246" "16948246" "subst" "0.000881154" "02326" "CUBN_000224" "g.16948246T>G" "" "" "" "CUBN(NM_001081.3):c.7868A>C (p.E2623A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929665" "0" "30" "10" "16948412" "16948412" "subst" "0.000483956" "02326" "CUBN_000136" "g.16948412A>G" "" "" "" "CUBN(NM_001081.3):c.7706-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929666" "0" "30" "10" "16979758" "16979758" "subst" "0" "02326" "CUBN_000058" "g.16979758G>A" "" "" "" "CUBN(NM_001081.3):c.5759C>T (p.A1920V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929667" "0" "30" "10" "16990588" "16990588" "subst" "0.00153046" "02326" "CUBN_000225" "g.16990588C>T" "" "" "" "CUBN(NM_001081.3):c.5098G>A (p.D1700N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929668" "0" "30" "10" "17110588" "17110595" "del" "0.000847458" "02326" "CUBN_000226" "g.17110588_17110595del" "" "" "" "CUBN(NM_001081.3):c.2791+9_2791+16delCTGTTCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929669" "0" "30" "10" "17113623" "17113623" "subst" "0.000152106" "02326" "CUBN_000227" "g.17113623A>C" "" "" "" "CUBN(NM_001081.3):c.2447-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931636" "21" "30" "10" "16948277" "16948277" "subst" "0.000320791" "00006" "CUBN_000089" "g.16948277T>G" "" "{PMID:Sajan 2019:30478137}" "" "c.7837A>C (I2613L)" "" "Germline" "" "" "0" "" "" "g.16906278T>G" "" "likely benign" "" "0000931637" "11" "30" "10" "16982057" "16982057" "subst" "0.000256195" "00006" "CUBN_000059" "g.16982057G>A" "" "{PMID:Sajan 2019:30478137}" "" "c.5522C>T (T1841M)" "" "Germline" "" "" "0" "" "" "g.16940058G>A" "" "likely benign" "" "0000949371" "0" "90" "10" "16975122" "16975122" "subst" "4.06468E-5" "02326" "CUBN_000228" "g.16975122G>A" "" "" "" "CUBN(NM_001081.3):c.6088C>T (p.R2030*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949372" "0" "90" "10" "16982151" "16982151" "subst" "0.000130042" "02326" "CUBN_000079" "g.16982151G>A" "" "" "" "CUBN(NM_001081.3):c.5428C>T (p.R1810*), CUBN(NM_001081.4):c.5428C>T (p.(Arg1810Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949373" "0" "10" "10" "17085903" "17085903" "subst" "0.00133301" "02326" "CUBN_000229" "g.17085903C>G" "" "" "" "CUBN(NM_001081.3):c.3752G>C (p.S1251T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949374" "0" "30" "10" "17087074" "17087074" "subst" "0.000649915" "02326" "CUBN_000230" "g.17087074C>A" "" "" "" "CUBN(NM_001081.3):c.3604G>T (p.A1202S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949375" "0" "30" "10" "17153023" "17153023" "subst" "0.0044521" "02326" "CUBN_000231" "g.17153023C>T" "" "" "" "CUBN(NM_001081.3):c.910G>A (p.E304K), CUBN(NM_001081.4):c.910G>A (p.(Glu304Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965681" "0" "90" "10" "17032362" "17032362" "dup" "0" "02327" "CUBN_000233" "g.17032362dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000965683" "0" "30" "10" "17110120" "17110120" "subst" "0.000305005" "02326" "CUBN_000234" "g.17110120T>C" "" "" "" "CUBN(NM_001081.3):c.2951A>G (p.N984S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978980" "0" "30" "10" "16932454" "16932454" "subst" "0.00195749" "01804" "CUBN_000191" "g.16932454C>T" "" "" "" "CUBN(NM_001081.3):c.8671G>A (p.V2891I), CUBN(NM_001081.4):c.8671G>A (p.(Val2891Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978981" "0" "90" "10" "16948208" "16948208" "subst" "9.33949E-5" "02326" "CUBN_000169" "g.16948208G>A" "" "" "" "CUBN(NM_001081.3):c.7906C>T (p.R2636*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978982" "0" "30" "10" "16975121" "16975121" "subst" "0.000719465" "02326" "CUBN_000236" "g.16975121C>T" "" "" "" "CUBN(NM_001081.3):c.6089G>A (p.R2030Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978983" "0" "30" "10" "16981015" "16981015" "subst" "0.00106858" "02326" "CUBN_000097" "g.16981015T>C" "" "" "" "CUBN(NM_001081.3):c.5680A>G (p.I1894V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978984" "0" "50" "10" "17024491" "17024491" "subst" "0" "01804" "CUBN_000237" "g.17024491A>G" "" "" "" "CUBN(NM_001081.4):c.4687T>C (p.(Cys1563Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978985" "0" "70" "10" "17088049" "17088049" "subst" "4.06488E-6" "02326" "CUBN_000104" "g.17088049C>A" "" "" "" "CUBN(NM_001081.3):c.3374G>T (p.G1125V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978986" "0" "30" "10" "17153023" "17153023" "subst" "0.0044521" "01804" "CUBN_000231" "g.17153023C>T" "" "" "" "CUBN(NM_001081.3):c.910G>A (p.E304K), CUBN(NM_001081.4):c.910G>A (p.(Glu304Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978987" "0" "10" "10" "17164788" "17164788" "del" "0" "02326" "CUBN_000073" "g.17164788del" "" "" "" "CUBN(NM_001081.3):c.593+21delT, CUBN(NM_001081.4):c.593+21delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978988" "0" "30" "10" "17171197" "17171197" "subst" "3.25076E-5" "02326" "CUBN_000238" "g.17171197G>C" "" "" "" "CUBN(NM_001081.3):c.175C>G (p.Q59E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998223" "0" "50" "10" "16877024" "16877024" "subst" "0.000101604" "01804" "CUBN_000239" "g.16877024C>T" "" "" "" "CUBN(NM_001081.3):c.10351G>A (p.(Asp3451Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998224" "0" "50" "10" "16878245" "16878245" "subst" "0" "01804" "CUBN_000240" "g.16878245T>C" "" "" "" "CUBN(NM_001081.3):c.10169A>G (p.(Tyr3390Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998225" "0" "30" "10" "16882941" "16882941" "subst" "0" "01804" "CUBN_000241" "g.16882941T>C" "" "" "" "CUBN(NM_001081.3):c.9769A>G (p.(Ile3257Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998226" "0" "30" "10" "16911671" "16911671" "subst" "0.000199159" "01804" "CUBN_000242" "g.16911671C>T" "" "" "" "CUBN(NM_001081.3):c.9418G>A (p.(Ala3140Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998227" "0" "30" "10" "16955978" "16955978" "subst" "0.00557011" "01804" "CUBN_000051" "g.16955978A>T" "" "" "" "CUBN(NM_001081.3):c.7365T>A (p.D2455E, p.(Asp2455Glu)), CUBN(NM_001081.4):c.7365T>A (p.D2455E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998228" "0" "50" "10" "16979677" "16979677" "subst" "0.000272624" "01804" "CUBN_000095" "g.16979677G>T" "" "" "" "CUBN(NM_001081.3):c.5840C>A (p.S1947Y, p.(Ser1947Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998229" "0" "30" "10" "17032530" "17032530" "subst" "3.66712E-5" "02326" "CUBN_000243" "g.17032530G>A" "" "" "" "CUBN(NM_001081.3):c.4169-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998230" "0" "30" "10" "17089609" "17089609" "subst" "4.87892E-5" "02326" "CUBN_000244" "g.17089609A>G" "" "" "" "CUBN(NM_001081.3):c.3140-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998231" "0" "30" "10" "17113966" "17113966" "subst" "2.88161E-5" "01804" "CUBN_000245" "g.17113966C>T" "" "" "" "CUBN(NM_001081.3):c.2306G>A (p.(Arg769Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998232" "0" "50" "10" "17127754" "17127754" "subst" "2.03404E-5" "01804" "CUBN_000246" "g.17127754C>T" "" "" "" "CUBN(NM_001081.3):c.1952G>A (p.(Arg651Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007422" "21" "50" "10" "16961995" "16961995" "subst" "0.0172397" "00006" "CUBN_000247" "g.16961995A>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "rs2271460" "0" "" "" "g.16919996A>C" "" "VUS" "" "0001025733" "0" "50" "10" "16873305" "16873305" "subst" "6.49957E-5" "02327" "CUBN_000039" "g.16873305C>A" "" "" "" "CUBN(NM_001081.4):c.10474G>T (p.D3492Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025734" "0" "50" "10" "16992011" "16992011" "subst" "0.00173221" "02327" "CUBN_000149" "g.16992011G>A" "" "" "" "CUBN(NM_001081.3):c.5069C>T (p.A1690V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037831" "0" "70" "10" "16918923" "16918923" "subst" "0.000207145" "02326" "CUBN_000078" "g.16918923C>T" "" "" "" "CUBN(NM_001081.3):c.9079G>A (p.G3027R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037832" "0" "70" "10" "16918949" "16918949" "subst" "0.000125907" "02326" "CUBN_000217" "g.16918949T>G" "" "" "" "CUBN(NM_001081.3):c.9053A>C (p.Y3018S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037833" "0" "30" "10" "16919081" "16919081" "subst" "0.00166754" "01804" "CUBN_000156" "g.16919081G>A" "" "" "" "CUBN(NM_001081.3):c.8921C>T (p.T2974M), CUBN(NM_001081.4):c.8921C>T (p.(Thr2974Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037834" "0" "30" "10" "16932490" "16932490" "subst" "0.0282264" "01804" "CUBN_000124" "g.16932490G>T" "" "" "" "CUBN(NM_001081.4):c.8635C>A (p.(Leu2879Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037835" "0" "90" "10" "16960688" "16960694" "del" "0" "02326" "CUBN_000092" "g.16960688_16960694del" "" "" "" "CUBN(NM_001081.3):c.6928_6934delGAGGTTA (p.E2310Cfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037836" "0" "70" "10" "16979677" "16979677" "subst" "0.000272624" "02326" "CUBN_000095" "g.16979677G>T" "" "" "" "CUBN(NM_001081.3):c.5840C>A (p.S1947Y, p.(Ser1947Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037837" "0" "90" "10" "16982151" "16982151" "subst" "0.000130042" "01804" "CUBN_000079" "g.16982151G>A" "" "" "" "CUBN(NM_001081.3):c.5428C>T (p.R1810*), CUBN(NM_001081.4):c.5428C>T (p.(Arg1810Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037838" "0" "30" "10" "17088035" "17088035" "subst" "4.06385E-6" "01804" "CUBN_000249" "g.17088035G>A" "" "" "" "CUBN(NM_001081.4):c.3388C>T (p.(Pro1130Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037839" "0" "50" "10" "17113547" "17113547" "subst" "6.50581E-5" "01804" "CUBN_000250" "g.17113547C>T" "" "" "" "CUBN(NM_001081.4):c.2503G>A (p.(Val835Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037840" "0" "30" "10" "17130299" "17130299" "subst" "0.000337346" "01804" "CUBN_000251" "g.17130299G>A" "" "" "" "CUBN(NM_001081.4):c.1811C>T (p.(Pro604Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044611" "1" "70" "10" "16882438" "16882438" "subst" "0" "03544" "CUBN_000248" "g.16882438C>T" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.16840439C>T" "" "likely pathogenic (recessive)" "ACMG" "0001044621" "2" "90" "10" "16948208" "16948208" "subst" "9.33949E-5" "03544" "CUBN_000169" "g.16948208G>A" "" "" "" "" "" "Germline" "" "rs137998687" "0" "" "" "g.16906209G>A" "" "pathogenic (recessive)" "" "0001046233" "0" "50" "10" "16932508" "16932508" "subst" "5.68533E-5" "02325" "CUBN_000252" "g.16932508C>T" "" "" "" "CUBN(NM_001081.4):c.8617G>A (p.E2873K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046234" "0" "90" "10" "16957052" "16957052" "subst" "2.03069E-5" "02326" "CUBN_000253" "g.16957052G>A" "" "" "" "CUBN(NM_001081.3):c.7330C>T (p.R2444*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CUBN ## Count = 302 "{{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}}" "0000001701" "00000280" "99" "3890" "0" "3890" "0" "c.3890C>T" "r.(3890c>u)" "p.(Pro1297Leu)" "27" "0000001702" "00000280" "99" "3330" "-439" "3330" "-439" "c.3330-439C>G" "r.[3329_3330ins66, 3329_3330ins125]" "p.0" "23i" "0000001703" "00000280" "99" "250" "0" "250" "0" "c.250C>T" "r.(250c>u)" "p.(Gln84*)" "02" "0000001704" "00000280" "77" "434" "0" "434" "0" "c.434G>A" "r.(434g>a)" "p.(Gly145Glu)" "05" "0000001705" "00000280" "77" "1230" "1" "1230" "1" "c.1230+1G>A" "r.spl?" "p.?" "11i" "0000001706" "00000280" "99" "1951" "0" "1951" "0" "c.1951C>T" "r.(1951C>T)" "p.(Arg651*)" "16" "0000001707" "00000280" "99" "-52" "0" "11881" "0" "c.(?_-52)_(*1009_?)del" "r.0" "p.0" "01-25" "0000001708" "00000280" "77" "1010" "0" "1010" "0" "c.1010C>T" "r.(1010c>u)" "p.(Pro337Leu)" "09" "0000001724" "00000280" "77" "252" "1" "252" "1" "c.252+1G>A" "r.spl?" "p.?" "02i" "0000001725" "00000280" "99" "-52" "0" "4018" "1" "c.(?_-52)_4018+?del" "r.?" "p.?" "01-28" "0000001726" "00000280" "99" "489" "0" "489" "0" "c.489G>A" "r.489_490ins137" "p.Gly164fs" "05" "0000001727" "00000280" "77" "673" "0" "673" "0" "c.673T>A" "r.(673u>a)" "p.(Cys225Ser)" "07" "0000001728" "00000280" "99" "889" "0" "889" "0" "c.889C>T" "r.(889c>u)" "p.(Gln297*)" "09" "0000001730" "00000280" "99" "1436" "0" "1436" "0" "c.1436C>G" "r.(1436c>g)" "p.(Ser479*)" "13" "0000001731" "00000280" "99" "1526" "0" "1526" "0" "c.1526del" "r.(?)" "p.(Gly509Glufs*13)" "13" "0000001732" "00000280" "99" "1530" "0" "1530" "0" "c.1530G>A" "r.1418_1530del" "p.Val473Glyfs*26" "13" "0000001733" "00000280" "99" "1838" "0" "1838" "0" "c.1838del" "r.(?)" "p.(Gly613Glufs*9)" "15" "0000001734" "00000280" "99" "1865" "0" "1865" "0" "c.1865del" "r.(?)" "p.(Thr622Ilefs*7)" "15" "0000001735" "00000280" "77" "1951" "0" "1951" "0" "c.1951C>G" "r.(1951c>g)" "p.(Arg651Gly)" "16" "0000001736" "00000280" "55" "2068" "0" "2068" "0" "c.2068A>G" "r.(2068a>g)" "p.(Ile690Val)" "16" "0000001737" "00000280" "77" "2486" "0" "2486" "0" "c.2486C>T" "r.(2486c>u)" "p.(Ser829Leu)" "19" "0000001738" "00000280" "99" "2515" "0" "2533" "0" "c.2515_2533del" "r.(?)" "p.(Glu839Profs*55)" "19" "0000001739" "00000280" "77" "2594" "0" "2594" "0" "c.2594G>A" "r.(2594g>a)" "p.(Ser865Asn)" "19" "0000001740" "00000280" "99" "2614" "0" "2615" "0" "c.2614_2615del" "r.(?)" "p.(Asp872Leufs*3)" "19" "0000001741" "00000280" "99" "2673" "0" "2673" "0" "c.2673C>A" "r.(2673c>a)" "p.(Cys891*)" "20" "0000001742" "00000280" "99" "2949" "0" "2949" "0" "c.2949C>A" "r.(2949c>a)" "p.(Tyr983*)" "21" "0000001743" "00000280" "99" "3056" "0" "3056" "0" "c.3056C>G" "r.(3056c>g)" "p.(Ser1019*)" "22" "0000001744" "00000280" "99" "3096" "0" "3096" "0" "c.3096del" "r.(?)" "p.(Tyr1032*)" "22" "0000001746" "00000280" "77" "3577" "0" "3577" "0" "c.3577T>G" "r.(3577u>g)" "p.(Trp1193Gly)" "25" "0000001747" "00000280" "77" "3749" "0" "3749" "0" "c.3749C>T" "r.(3749c>u)" "p.(Ser1250Phe)" "26" "0000001749" "00000280" "99" "3999" "0" "3999" "0" "c.3999C>A" "r.(3999c>a)" "p.(Cys1333*)" "27" "0000001750" "00000280" "77" "4115" "0" "4115" "0" "c.4115C>G" "r.(4115c>g)" "p.(Thr1372Arg)" "28" "0000001751" "00000280" "77" "4168" "0" "4168" "0" "c.4168G>A" "r.(4168g>a)" "p.(Gly1390Ser)" "28" "0000039613" "00000280" "50" "6479" "0" "6479" "0" "c.6479A>G" "r.(?)" "p.(Asp2160Gly)" "43" "0000248626" "00000280" "10" "4563" "0" "4563" "0" "c.4563T>A" "r.(?)" "p.(Ile1521=)" "" "0000248761" "00000280" "10" "758" "0" "758" "0" "c.758T>C" "r.(?)" "p.(Phe253Ser)" "" "0000249139" "00000280" "10" "593" "21" "593" "21" "c.593+21del" "r.(=)" "p.(=)" "" "0000249416" "00000280" "30" "7365" "0" "7365" "0" "c.7365T>A" "r.(?)" "p.(Asp2455Glu)" "" "0000254724" "00000280" "30" "7346" "0" "7346" "0" "c.7346T>C" "r.(?)" "p.(Met2449Thr)" "" "0000255948" "00000280" "50" "9335" "0" "9335" "0" "c.9335T>C" "r.(?)" "p.(Phe3112Ser)" "" "0000267209" "00000280" "30" "10474" "0" "10474" "0" "c.10474G>T" "r.(?)" "p.(Asp3492Tyr)" "" "0000267210" "00000280" "10" "1165" "0" "1165" "0" "c.1165C>A" "r.(?)" "p.(Pro389Thr)" "" "0000267211" "00000280" "10" "123" "-16" "123" "-16" "c.123-16C>G" "r.(=)" "p.(=)" "" "0000267212" "00000280" "10" "2487" "0" "2487" "0" "c.2487G>A" "r.(?)" "p.(Ser829=)" "" "0000267213" "00000280" "50" "2625" "0" "2625" "0" "c.2625G>T" "r.(?)" "p.(Glu875Asp)" "" "0000267214" "00000280" "10" "2791" "9" "2791" "9" "c.2791+9C>T" "r.(=)" "p.(=)" "" "0000267215" "00000280" "10" "4675" "0" "4675" "0" "c.4675C>T" "r.(?)" "p.(Pro1559Ser)" "" "0000267216" "00000280" "30" "5323" "0" "5323" "0" "c.5323C>T" "r.(?)" "p.(Arg1775Trp)" "" "0000267217" "00000280" "10" "5856" "0" "5856" "0" "c.5856A>G" "r.(?)" "p.(Ser1952=)" "" "0000267218" "00000280" "10" "6124" "8" "6124" "8" "c.6124+8C>T" "r.(=)" "p.(=)" "" "0000267219" "00000280" "10" "6485" "0" "6485" "0" "c.6485G>A" "r.(?)" "p.(Cys2162Tyr)" "" "0000267220" "00000280" "10" "8150" "0" "8150" "0" "c.8150C>G" "r.(?)" "p.(Ser2717Trp)" "" "0000267221" "00000280" "50" "8399" "0" "8399" "0" "c.8399C>T" "r.(?)" "p.(Thr2800Ile)" "" "0000267222" "00000280" "10" "9340" "0" "9340" "0" "c.9340G>A" "r.(?)" "p.(Gly3114Ser)" "" "0000267223" "00000280" "50" "9828" "0" "9828" "0" "c.9828G>A" "r.(?)" "p.(Met3276Ile)" "" "0000267224" "00000280" "10" "9843" "0" "9843" "0" "c.9843A>G" "r.(?)" "p.(Thr3281=)" "" "0000268639" "00000280" "50" "10471" "0" "10471" "0" "c.10471A>G" "r.(?)" "p.(Ser3491Gly)" "" "0000268640" "00000280" "50" "10685" "0" "10685" "0" "c.10685G>A" "r.(?)" "p.(Gly3562Glu)" "" "0000270653" "00000280" "10" "2594" "0" "2594" "0" "c.2594G>A" "r.(?)" "p.(Ser865Asn)" "" "0000274616" "00000280" "30" "10105" "0" "10105" "0" "c.10105A>G" "r.(?)" "p.(Ser3369Gly)" "" "0000274617" "00000280" "10" "10383" "0" "10383" "0" "c.10383C>T" "r.(?)" "p.(Ser3461=)" "" "0000274618" "00000280" "50" "10471" "0" "10471" "0" "c.10471A>G" "r.(?)" "p.(Ser3491Gly)" "" "0000274619" "00000280" "50" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Arg520Trp)" "" "0000274620" "00000280" "10" "2445" "0" "2445" "0" "c.2445C>T" "r.(?)" "p.(Val815=)" "" "0000274621" "00000280" "50" "2840" "0" "2840" "0" "c.2840G>A" "r.(?)" "p.(Gly947Asp)" "" "0000274622" "00000280" "30" "3282" "0" "3282" "0" "c.3282C>T" "r.(?)" "p.(Ser1094=)" "" "0000274623" "00000280" "30" "3604" "0" "3604" "0" "c.3604G>A" "r.(?)" "p.(Ala1202Thr)" "" "0000274624" "00000280" "30" "5412" "0" "5412" "0" "c.5412G>T" "r.(?)" "p.(Thr1804=)" "" "0000274625" "00000280" "30" "5522" "0" "5522" "0" "c.5522C>T" "r.(?)" "p.(Thr1841Met)" "" "0000274626" "00000280" "50" "5759" "0" "5759" "0" "c.5759C>T" "r.(?)" "p.(Ala1920Val)" "" "0000274627" "00000280" "30" "6142" "0" "6142" "0" "c.6142C>G" "r.(?)" "p.(Gln2048Glu)" "" "0000274628" "00000280" "30" "6822" "-6" "6822" "-6" "c.6822-6C>T" "r.(=)" "p.(=)" "" "0000274629" "00000280" "10" "6924" "0" "6924" "0" "c.6924A>T" "r.(?)" "p.(Ser2308=)" "" "0000274630" "00000280" "10" "9491" "0" "9491" "0" "c.9491C>G" "r.(?)" "p.(Ser3164Trp)" "" "0000274631" "00000280" "10" "9986" "0" "9986" "0" "c.9986C>T" "r.(?)" "p.(Ser3329Leu)" "" "0000342107" "00000280" "90" "5428" "0" "5428" "0" "c.5428C>T" "r.(?)" "p.(Arg1810Ter)" "" "0000345972" "00000280" "70" "9079" "0" "9079" "0" "c.9079G>A" "r.(?)" "p.(Gly3027Arg)" "" "0000346457" "00000280" "70" "10292" "0" "10292" "0" "c.10292A>C" "r.(?)" "p.(His3431Pro)" "" "0000349462" "00000280" "10" "10265" "0" "10265" "0" "c.10265C>T" "r.(?)" "p.(Thr3422Ile)" "" "0000349970" "00000280" "90" "591" "0" "591" "0" "c.591C>G" "r.(?)" "p.(Tyr197Ter)" "" "0000354898" "00000280" "00" "9206" "0" "9206" "0" "c.9206C>T" "r.(?)" "p.(Thr3069Ile)" "58" "0000539594" "00000280" "30" "10641" "0" "10641" "0" "c.10641G>A" "r.(?)" "p.(Arg3547=)" "" "0000539595" "00000280" "30" "10028" "0" "10028" "0" "c.10028C>T" "r.(?)" "p.(Pro3343Leu)" "" "0000539596" "00000280" "30" "9078" "0" "9078" "0" "c.9078C>T" "r.(?)" "p.(Phe3026=)" "" "0000539597" "00000280" "90" "9040" "0" "9041" "0" "c.9040_9041del" "r.(?)" "p.(Leu3014AlafsTer2)" "" "0000539598" "00000280" "50" "8894" "0" "8894" "0" "c.8894T>C" "r.(?)" "p.(Phe2965Ser)" "" "0000539599" "00000280" "50" "8894" "0" "8894" "0" "c.8894T>C" "r.(?)" "p.(Phe2965Ser)" "" "0000539600" "00000280" "30" "7837" "0" "7837" "0" "c.7837A>C" "r.(?)" "p.(Ile2613Leu)" "" "0000539601" "00000280" "30" "7365" "0" "7365" "0" "c.7365T>A" "r.(?)" "p.(Asp2455Glu)" "" "0000539602" "00000280" "90" "7095" "0" "7095" "0" "c.7095G>A" "r.(?)" "p.(Trp2365Ter)" "" "0000539603" "00000280" "10" "6938" "0" "6938" "0" "c.6938A>T" "r.(?)" "p.(Tyr2313Phe)" "" "0000539604" "00000280" "90" "6928" "0" "6934" "0" "c.6928_6934del" "r.(?)" "p.(Glu2310CysfsTer3)" "" "0000539606" "00000280" "50" "6364" "0" "6364" "0" "c.6364G>A" "r.(?)" "p.(Val2122Ile)" "" "0000539607" "00000280" "70" "5840" "0" "5840" "0" "c.5840C>A" "r.(?)" "p.(Ser1947Tyr)" "" "0000539608" "00000280" "10" "5803" "0" "5803" "0" "c.5803A>G" "r.(?)" "p.(Ser1935Gly)" "" "0000539609" "00000280" "30" "5680" "0" "5680" "0" "c.5680A>G" "r.(?)" "p.(Ile1894Val)" "" "0000539610" "00000280" "50" "5626" "0" "5626" "0" "c.5626T>G" "r.(?)" "p.(Ser1876Ala)" "" "0000539611" "00000280" "10" "5518" "0" "5518" "0" "c.5518G>A" "r.(?)" "p.(Gly1840Ser)" "" "0000539612" "00000280" "10" "5207" "0" "5207" "0" "c.5207C>T" "r.(?)" "p.(Ser1736Leu)" "" "0000539615" "00000280" "50" "3630" "0" "3630" "0" "c.3630T>G" "r.(?)" "p.(Phe1210Leu)" "" "0000539616" "00000280" "50" "3374" "0" "3374" "0" "c.3374G>T" "r.(?)" "p.(Gly1125Val)" "" "0000539617" "00000280" "10" "3292" "0" "3292" "0" "c.3292G>T" "r.(?)" "p.(Ala1098Ser)" "" "0000539618" "00000280" "30" "2756" "0" "2756" "0" "c.2756A>G" "r.(?)" "p.(His919Arg)" "" "0000539619" "00000280" "50" "1780" "0" "1780" "0" "c.1780C>G" "r.(?)" "p.(Leu594Val)" "" "0000539620" "00000280" "50" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513Cys)" "" "0000539621" "00000280" "30" "1470" "0" "1470" "0" "c.1470G>A" "r.(?)" "p.(Pro490=)" "" "0000539622" "00000280" "50" "1088" "0" "1088" "0" "c.1088A>G" "r.(?)" "p.(Asp363Gly)" "" "0000539623" "00000280" "10" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Ala335Thr)" "" "0000539624" "00000280" "30" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Val246Ile)" "" "0000612381" "00000280" "90" "8274" "0" "8274" "0" "c.8274del" "r.(?)" "p.(Ile2759SerfsTer2)" "" "0000612382" "00000280" "30" "7331" "0" "7331" "0" "c.7331G>A" "r.(?)" "p.(Arg2444Gln)" "" "0000612383" "00000280" "30" "6661" "0" "6661" "0" "c.6661G>A" "r.(?)" "p.(Val2221Ile)" "" "0000612385" "00000280" "90" "4165" "0" "4165" "0" "c.4165del" "r.(?)" "p.(Tyr1389ThrfsTer74)" "" "0000612386" "00000280" "50" "4031" "0" "4031" "0" "c.4031C>G" "r.(?)" "p.(Pro1344Arg)" "" "0000612387" "00000280" "30" "3354" "0" "3354" "0" "c.3354A>G" "r.(?)" "p.(Pro1118=)" "" "0000612388" "00000280" "50" "3211" "0" "3211" "0" "c.3211A>G" "r.(?)" "p.(Asn1071Asp)" "" "0000612389" "00000280" "30" "1236" "0" "1236" "0" "c.1236T>C" "r.(?)" "p.(Thr412=)" "" "0000622362" "00000280" "50" "5926" "5" "5926" "5" "c.5926+5G>A" "r.spl?" "p.?" "" "0000647863" "00000280" "30" "10265" "0" "10265" "0" "c.10265C>T" "r.(?)" "p.(Thr3422Ile)" "" "0000647864" "00000280" "10" "9340" "0" "9340" "0" "c.9340G>A" "r.(?)" "p.(Gly3114Ser)" "" "0000647865" "00000280" "50" "8894" "0" "8894" "0" "c.8894T>C" "r.(?)" "p.(Phe2965Ser)" "" "0000647866" "00000280" "30" "8741" "0" "8741" "0" "c.8741C>T" "r.(?)" "p.(Ala2914Val)" "" "0000647867" "00000280" "30" "8635" "0" "8635" "0" "c.8635C>A" "r.(?)" "p.(Leu2879Ile)" "" "0000647868" "00000280" "30" "6938" "0" "6938" "0" "c.6938A>T" "r.(?)" "p.(Tyr2313Phe)" "" "0000647869" "00000280" "30" "5924" "0" "5924" "0" "c.5924C>T" "r.(?)" "p.(Pro1975Leu)" "" "0000647870" "00000280" "10" "5911" "0" "5911" "0" "c.5911C>A" "r.(?)" "p.(Pro1971Thr)" "" "0000647871" "00000280" "10" "5518" "0" "5518" "0" "c.5518G>A" "r.(?)" "p.(Gly1840Ser)" "" "0000647872" "00000280" "10" "5134" "0" "5134" "0" "c.5134C>T" "r.(=)" "p.(=)" "" "0000647873" "00000280" "30" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Gly66Arg)" "" "0000656452" "00000280" "10" "10383" "0" "10383" "0" "c.10383C>T" "r.(?)" "p.(Ser3461=)" "" "0000656454" "00000280" "50" "4964" "0" "4964" "0" "c.4964C>G" "r.(?)" "p.(Pro1655Arg)" "" "0000656455" "00000280" "30" "4058" "0" "4058" "0" "c.4058T>A" "r.(?)" "p.(Val1353Glu)" "" "0000656456" "00000280" "50" "2738" "0" "2738" "0" "c.2738G>C" "r.(?)" "p.(Ser913Thr)" "" "0000669051" "00000280" "30" "8635" "0" "8635" "0" "c.8635C>A" "r.(?)" "p.(Leu2879Ile)" "" "0000669052" "00000280" "10" "5911" "0" "5911" "0" "c.5911C>A" "r.(?)" "p.(Pro1971Thr)" "" "0000669053" "00000280" "10" "5518" "0" "5518" "0" "c.5518G>A" "r.(?)" "p.(Gly1840Ser)" "" "0000669054" "00000280" "10" "5134" "0" "5134" "0" "c.5134C>T" "r.(=)" "p.(=)" "" "0000678812" "00000280" "30" "8968" "0" "8968" "0" "c.8968G>A" "r.(?)" "p.(Val2990Ile)" "" "0000678813" "00000280" "50" "8079" "0" "8079" "0" "c.8079G>C" "r.(?)" "p.(Gln2693His)" "" "0000678814" "00000280" "30" "8047" "0" "8047" "0" "c.8047A>C" "r.(?)" "p.(Lys2683Gln)" "" "0000678815" "00000280" "30" "7706" "-4" "7706" "-4" "c.7706-4T>C" "r.spl?" "p.?" "" "0000678816" "00000280" "30" "4092" "0" "4092" "0" "c.4092C>G" "r.(?)" "p.(Ser1364=)" "" "0000678817" "00000280" "50" "2461" "0" "2461" "0" "c.2461T>G" "r.(?)" "p.(Leu821Val)" "" "0000678818" "00000280" "50" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Asp536Asn)" "" "0000690689" "00000280" "30" "8905" "6" "8905" "6" "c.8905+6T>C" "r.(=)" "p.(=)" "" "0000690691" "00000280" "30" "5196" "0" "5196" "0" "c.5196C>T" "r.(?)" "p.(Thr1732=)" "" "0000690692" "00000280" "90" "4525" "1" "4525" "1" "c.4525+1del" "r.spl?" "p.?" "" "0000690693" "00000280" "30" "4200" "0" "4200" "0" "c.4200C>T" "r.(?)" "p.(Gly1400=)" "" "0000690694" "00000280" "30" "3495" "0" "3495" "0" "c.3495C>T" "r.(?)" "p.(Cys1165=)" "" "0000690695" "00000280" "90" "3356" "0" "3356" "0" "c.3356T>A" "r.(?)" "p.(Leu1119Ter)" "" "0000722760" "00000280" "50" "9196" "0" "9196" "0" "c.9196T>C" "r.(?)" "p.(Tyr3066His)" "" "0000722761" "00000280" "50" "9054" "0" "9054" "0" "c.9054C>A" "r.(?)" "p.(Tyr3018*)" "" "0000722762" "00000280" "30" "6950" "0" "6950" "0" "c.6950G>A" "r.(?)" "p.(Arg2317Gln)" "" "0000722763" "00000280" "30" "5196" "0" "5196" "0" "c.5196C>T" "r.(?)" "p.(Thr1732=)" "" "0000722764" "00000280" "50" "5069" "0" "5069" "0" "c.5069C>T" "r.(?)" "p.(Ala1690Val)" "" "0000722765" "00000280" "30" "5069" "0" "5069" "0" "c.5069C>T" "r.(?)" "p.(Ala1690Val)" "" "0000722766" "00000280" "50" "4423" "0" "4423" "0" "c.4423A>G" "r.(?)" "p.(Met1475Val)" "" "0000722767" "00000280" "30" "4200" "0" "4200" "0" "c.4200C>T" "r.(?)" "p.(Gly1400=)" "" "0000722768" "00000280" "30" "3988" "0" "3988" "0" "c.3988C>T" "r.(?)" "p.(His1330Tyr)" "" "0000722769" "00000280" "30" "3746" "0" "3746" "0" "c.3746G>A" "r.(?)" "p.(Arg1249His)" "" "0000792260" "00000280" "30" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43*)" "2" "0000792261" "00000280" "30" "9340" "0" "9340" "0" "c.9340G>A" "r.(?)" "p.(Gly3114Ser)" "59" "0000804364" "00000280" "30" "10835" "0" "10835" "0" "c.10835G>A" "r.(?)" "p.(Arg3612Gln)" "" "0000804365" "00000280" "50" "10834" "0" "10834" "0" "c.10834C>T" "r.(?)" "p.(Arg3612Trp)" "" "0000804366" "00000280" "30" "8921" "0" "8921" "0" "c.8921C>T" "r.(?)" "p.(Thr2974Met)" "" "0000804367" "00000280" "50" "8641" "0" "8641" "0" "c.8641A>G" "r.(?)" "p.(Thr2881Ala)" "" "0000804368" "00000280" "50" "7649" "0" "7649" "0" "c.7649A>G" "r.(?)" "p.(Asp2550Gly)" "" "0000804369" "00000280" "30" "7346" "0" "7346" "0" "c.7346T>C" "r.(?)" "p.(Met2449Thr)" "" "0000804370" "00000280" "30" "7210" "9" "7210" "9" "c.7210+9A>G" "r.(=)" "p.(=)" "" "0000804371" "00000280" "90" "6647" "-1" "6664" "0" "c.6647-1_6664del" "r.spl?" "p.?" "" "0000804372" "00000280" "30" "5967" "0" "5967" "0" "c.5967G>C" "r.(?)" "p.(Val1989=)" "" "0000804373" "00000280" "50" "5840" "0" "5840" "0" "c.5840C>A" "r.(?)" "p.(Ser1947Tyr)" "" "0000804374" "00000280" "30" "5580" "0" "5580" "0" "c.5580T>C" "r.(?)" "p.(His1860=)" "" "0000804375" "00000280" "50" "5084" "0" "5084" "0" "c.5084G>A" "r.(?)" "p.(Arg1695His)" "" "0000804376" "00000280" "90" "4860" "0" "4860" "0" "c.4860C>A" "r.(?)" "p.(Cys1620*)" "" "0000804377" "00000280" "30" "3356" "0" "3356" "0" "c.3356T>C" "r.(?)" "p.(Leu1119Ser)" "" "0000804378" "00000280" "30" "2631" "0" "2631" "0" "c.2631T>C" "r.(?)" "p.(Gly877=)" "" "0000804379" "00000280" "30" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Ala335Thr)" "" "0000804380" "00000280" "30" "594" "-16" "594" "-16" "c.594-16C>T" "r.(=)" "p.(=)" "" "0000832706" "00000280" "70" "7906" "0" "7906" "0" "c.7906C>T" "r.(?)" "p.(Arg2636*)" "" "0000832707" "00000280" "70" "10344" "0" "10344" "0" "c.10344C>G" "r.(?)" "p.(Cys3448Trp)" "" "0000832714" "00000280" "70" "7906" "0" "7906" "0" "c.7906C>T" "r.(?)" "p.(Arg2636*)" "" "0000832715" "00000280" "70" "10344" "0" "10344" "0" "c.10344C>G" "r.(?)" "p.(Cys3448Trp)" "" "0000852448" "00000280" "30" "10575" "0" "10575" "0" "c.10575C>T" "r.(?)" "p.(Pro3525=)" "" "0000852449" "00000280" "30" "9987" "0" "9987" "0" "c.9987G>A" "r.(?)" "p.(Ser3329=)" "" "0000852450" "00000280" "50" "9758" "0" "9758" "0" "c.9758C>T" "r.(?)" "p.(Thr3253Met)" "" "0000852451" "00000280" "10" "9565" "0" "9565" "0" "c.9565A>G" "r.(?)" "p.(Ile3189Val)" "" "0000852452" "00000280" "10" "9491" "0" "9491" "0" "c.9491C>G" "r.(?)" "p.(Ser3164Trp)" "" "0000852453" "00000280" "30" "6822" "-10" "6822" "-10" "c.6822-10C>T" "r.(=)" "p.(=)" "" "0000852454" "00000280" "30" "6646" "18" "6646" "18" "c.6646+18G>T" "r.(=)" "p.(=)" "" "0000852455" "00000280" "30" "3995" "0" "3995" "0" "c.3995A>G" "r.(?)" "p.(Asn1332Ser)" "" "0000852456" "00000280" "30" "3746" "0" "3746" "0" "c.3746G>A" "r.(?)" "p.(Arg1249His)" "" "0000852457" "00000280" "10" "3292" "0" "3292" "0" "c.3292G>T" "r.(?)" "p.(Ala1098Ser)" "" "0000852458" "00000280" "30" "2673" "0" "2673" "0" "c.2673C>T" "r.(?)" "p.(Cys891=)" "" "0000852459" "00000280" "30" "2301" "18" "2301" "18" "c.2301+18A>G" "r.(=)" "p.(=)" "" "0000852460" "00000280" "30" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Asp561Asn)" "" "0000852461" "00000280" "30" "1470" "0" "1470" "0" "c.1470G>A" "r.(?)" "p.(Pro490=)" "" "0000852462" "00000280" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Gln84*)" "" "0000861875" "00000280" "30" "10834" "0" "10834" "0" "c.10834C>T" "r.(?)" "p.(Arg3612Trp)" "" "0000861876" "00000280" "10" "8139" "0" "8139" "0" "c.8139C>A" "r.(?)" "p.(Thr2713=)" "" "0000861877" "00000280" "90" "5428" "0" "5428" "0" "c.5428C>T" "r.(?)" "p.(Arg1810Ter)" "" "0000861878" "00000280" "30" "5189" "0" "5189" "0" "c.5189C>T" "r.(?)" "p.(Thr1730Met)" "" "0000861879" "00000280" "30" "2446" "14" "2446" "15" "c.2446+14_2446+15del" "r.(=)" "p.(=)" "" "0000861880" "00000280" "50" "1771" "0" "1771" "0" "c.1771G>A" "r.(?)" "p.(Gly591Arg)" "" "0000861881" "00000280" "30" "1112" "-12" "1112" "-12" "c.1112-12A>G" "r.(=)" "p.(=)" "" "0000889084" "00000280" "30" "10656" "0" "10656" "0" "c.10656C>T" "r.(?)" "p.(Asn3552=)" "" "0000889085" "00000280" "30" "10528" "7" "10528" "7" "c.10528+7C>A" "r.(=)" "p.(=)" "" "0000889086" "00000280" "30" "9986" "0" "9986" "0" "c.9986C>T" "r.(?)" "p.(Ser3329Leu)" "" "0000889087" "00000280" "30" "9705" "0" "9705" "0" "c.9705G>A" "r.(?)" "p.(Thr3235=)" "" "0000889088" "00000280" "30" "9125" "0" "9125" "0" "c.9125A>G" "r.(?)" "p.(Asn3042Ser)" "" "0000889089" "00000280" "30" "8808" "0" "8808" "0" "c.8808C>T" "r.(?)" "p.(Tyr2936=)" "" "0000889090" "00000280" "30" "8671" "0" "8671" "0" "c.8671G>A" "r.(?)" "p.(Val2891Ile)" "" "0000889091" "00000280" "30" "8411" "-14" "8411" "-14" "c.8411-14T>C" "r.(=)" "p.(=)" "" "0000889092" "00000280" "30" "7210" "9" "7210" "9" "c.7210+9A>G" "r.(=)" "p.(=)" "" "0000889093" "00000280" "30" "7112" "0" "7112" "0" "c.7112C>T" "r.(?)" "p.(Ser2371Phe)" "" "0000889094" "00000280" "30" "7107" "0" "7107" "0" "c.7107G>A" "r.(?)" "p.(Gly2369=)" "" "0000889095" "00000280" "10" "6938" "0" "6938" "0" "c.6938A>T" "r.(?)" "p.(Tyr2313Phe)" "" "0000889096" "00000280" "30" "6924" "0" "6924" "0" "c.6924A>T" "r.(?)" "p.(Ser2308=)" "" "0000889097" "00000280" "30" "5927" "-19" "5927" "-19" "c.5927-19G>A" "r.(=)" "p.(=)" "" "0000889098" "00000280" "30" "5424" "0" "5424" "0" "c.5424G>T" "r.(?)" "p.(Val1808=)" "" "0000889099" "00000280" "30" "5130" "0" "5130" "0" "c.5130C>T" "r.(?)" "p.(Ser1710=)" "" "0000889100" "00000280" "30" "5073" "0" "5073" "0" "c.5073C>G" "r.(?)" "p.(Pro1691=)" "" "0000889101" "00000280" "30" "5011" "0" "5011" "0" "c.5011A>C" "r.(?)" "p.(Arg1671=)" "" "0000889102" "00000280" "30" "4696" "-16" "4696" "-16" "c.4696-16G>T" "r.(=)" "p.(=)" "" "0000889103" "00000280" "30" "2076" "0" "2076" "0" "c.2076C>T" "r.(?)" "p.(Asp692=)" "" "0000889104" "00000280" "30" "1766" "-20" "1766" "-20" "c.1766-20A>G" "r.(=)" "p.(=)" "" "0000889105" "00000280" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Gln334Ter)" "" "0000889106" "00000280" "10" "963" "0" "963" "0" "c.963C>T" "r.(?)" "p.(Pro321=)" "" "0000889107" "00000280" "30" "657" "0" "657" "0" "c.657G>A" "r.(?)" "p.(Gly219=)" "" "0000889108" "00000280" "30" "594" "-13" "594" "-13" "c.594-13G>A" "r.(=)" "p.(=)" "" "0000889109" "00000280" "30" "348" "17" "348" "17" "c.348+17C>T" "r.(=)" "p.(=)" "" "0000913249" "00000280" "30" "9267" "0" "9267" "0" "c.9267C>T" "r.(?)" "p.(Thr3089=)" "" "0000913250" "00000280" "30" "8279" "0" "8279" "0" "c.8279T>C" "r.(?)" "p.(Ile2760Thr)" "" "0000913251" "00000280" "30" "7899" "0" "7899" "0" "c.7899C>T" "r.(?)" "p.(Leu2633=)" "" "0000913252" "00000280" "30" "6462" "19" "6462" "19" "c.6462+19C>G" "r.(=)" "p.(=)" "" "0000913253" "00000280" "30" "6276" "0" "6276" "0" "c.6276C>T" "r.(?)" "p.(Cys2092=)" "" "0000913254" "00000280" "30" "2792" "-6" "2792" "-6" "c.2792-6C>G" "r.(=)" "p.(=)" "" "0000913255" "00000280" "30" "2182" "0" "2182" "0" "c.2182T>C" "r.(?)" "p.(Phe728Leu)" "" "0000913256" "00000280" "30" "2103" "0" "2103" "0" "c.2103A>G" "r.(?)" "p.(Thr701=)" "" "0000913257" "00000280" "30" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Gly388=)" "" "0000913258" "00000280" "30" "791" "0" "791" "0" "c.791G>C" "r.(?)" "p.(Arg264Thr)" "" "0000925137" "00000280" "90" "8497" "0" "8497" "0" "c.8497del" "r.(?)" "p.(Trp2833Glyfs*20)" "" "0000925138" "00000280" "70" "6125" "-2" "6125" "-2" "c.6125-2A>G" "r.spl?" "p.?" "" "0000925139" "00000280" "30" "4872" "0" "4872" "0" "c.4872C>T" "r.(?)" "p.(Ile1624=)" "" "0000925140" "00000280" "30" "4622" "0" "4622" "0" "c.4622G>A" "r.(?)" "p.(Arg1541Gln)" "" "0000925141" "00000280" "30" "3356" "0" "3356" "0" "c.3356T>C" "r.(?)" "p.(Leu1119Ser)" "" "0000925142" "00000280" "30" "2445" "0" "2445" "0" "c.2445C>T" "r.(?)" "p.(Val815=)" "" "0000929660" "00000280" "30" "9236" "8" "9236" "8" "c.9236+8A>G" "r.(=)" "p.(=)" "" "0000929661" "00000280" "30" "9206" "0" "9206" "0" "c.9206C>T" "r.(?)" "p.(Thr3069Ile)" "" "0000929662" "00000280" "30" "8968" "0" "8968" "0" "c.8968G>A" "r.(?)" "p.(Val2990Ile)" "" "0000929663" "00000280" "30" "7971" "0" "7971" "0" "c.7971A>G" "r.(?)" "p.(=)" "" "0000929664" "00000280" "30" "7868" "0" "7868" "0" "c.7868A>C" "r.(?)" "p.(Glu2623Ala)" "" "0000929665" "00000280" "30" "7706" "-4" "7706" "-4" "c.7706-4T>C" "r.spl?" "p.?" "" "0000929666" "00000280" "30" "5759" "0" "5759" "0" "c.5759C>T" "r.(?)" "p.(Ala1920Val)" "" "0000929667" "00000280" "30" "5098" "0" "5098" "0" "c.5098G>A" "r.(?)" "p.(Asp1700Asn)" "" "0000929668" "00000280" "30" "2791" "9" "2791" "16" "c.2791+9_2791+16del" "r.(=)" "p.(=)" "" "0000929669" "00000280" "30" "2447" "-20" "2447" "-20" "c.2447-20T>G" "r.(=)" "p.(=)" "" "0000931636" "00000280" "30" "7837" "0" "7837" "0" "c.7837A>C" "r.(?)" "p.(Ile2613Leu)" "" "0000931637" "00000280" "30" "5522" "0" "5522" "0" "c.5522C>T" "r.(?)" "p.(Thr1841Met)" "" "0000949371" "00000280" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "" "0000949372" "00000280" "90" "5428" "0" "5428" "0" "c.5428C>T" "r.(?)" "p.(Arg1810Ter)" "" "0000949373" "00000280" "10" "3752" "0" "3752" "0" "c.3752G>C" "r.(?)" "p.(Ser1251Thr)" "" "0000949374" "00000280" "30" "3604" "0" "3604" "0" "c.3604G>T" "r.(?)" "p.(Ala1202Ser)" "" "0000949375" "00000280" "30" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Glu304Lys)" "" "0000965681" "00000280" "90" "4321" "0" "4321" "0" "c.4321dup" "r.(?)" "p.(His1441Profs*7)" "" "0000965683" "00000280" "30" "2951" "0" "2951" "0" "c.2951A>G" "r.(?)" "p.(Asn984Ser)" "" "0000978980" "00000280" "30" "8671" "0" "8671" "0" "c.8671G>A" "r.(?)" "p.(Val2891Ile)" "" "0000978981" "00000280" "90" "7906" "0" "7906" "0" "c.7906C>T" "r.(?)" "p.(Arg2636*)" "" "0000978982" "00000280" "30" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "" "0000978983" "00000280" "30" "5680" "0" "5680" "0" "c.5680A>G" "r.(?)" "p.(Ile1894Val)" "" "0000978984" "00000280" "50" "4687" "0" "4687" "0" "c.4687T>C" "r.(?)" "p.(Cys1563Arg)" "" "0000978985" "00000280" "70" "3374" "0" "3374" "0" "c.3374G>T" "r.(?)" "p.(Gly1125Val)" "" "0000978986" "00000280" "30" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Glu304Lys)" "" "0000978987" "00000280" "10" "593" "21" "593" "21" "c.593+21del" "r.(=)" "p.(=)" "" "0000978988" "00000280" "30" "175" "0" "175" "0" "c.175C>G" "r.(?)" "p.(Gln59Glu)" "" "0000998223" "00000280" "50" "10351" "0" "10351" "0" "c.10351G>A" "r.(?)" "p.(Asp3451Asn)" "" "0000998224" "00000280" "50" "10169" "0" "10169" "0" "c.10169A>G" "r.(?)" "p.(Tyr3390Cys)" "" "0000998225" "00000280" "30" "9769" "0" "9769" "0" "c.9769A>G" "r.(?)" "p.(Ile3257Val)" "" "0000998226" "00000280" "30" "9418" "0" "9418" "0" "c.9418G>A" "r.(?)" "p.(Ala3140Thr)" "" "0000998227" "00000280" "30" "7365" "0" "7365" "0" "c.7365T>A" "r.(?)" "p.(Asp2455Glu)" "" "0000998228" "00000280" "50" "5840" "0" "5840" "0" "c.5840C>A" "r.(?)" "p.(Ser1947Tyr)" "" "0000998229" "00000280" "30" "4169" "-16" "4169" "-16" "c.4169-16C>T" "r.(=)" "p.(=)" "" "0000998230" "00000280" "30" "3140" "-7" "3140" "-7" "c.3140-7T>C" "r.(=)" "p.(=)" "" "0000998231" "00000280" "30" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.(Arg769Gln)" "" "0000998232" "00000280" "50" "1952" "0" "1952" "0" "c.1952G>A" "r.(?)" "p.(Arg651Gln)" "" "0001007422" "00000280" "50" "6788" "0" "6788" "0" "c.6788T>G" "r.(?)" "p.(Phe2263Cys)" "44" "0001025733" "00000280" "50" "10474" "0" "10474" "0" "c.10474G>T" "r.(?)" "p.(Asp3492Tyr)" "" "0001025734" "00000280" "50" "5069" "0" "5069" "0" "c.5069C>T" "r.(?)" "p.(Ala1690Val)" "" "0001037831" "00000280" "70" "9079" "0" "9079" "0" "c.9079G>A" "r.(?)" "p.(Gly3027Arg)" "" "0001037832" "00000280" "70" "9053" "0" "9053" "0" "c.9053A>C" "r.(?)" "p.(Tyr3018Ser)" "" "0001037833" "00000280" "30" "8921" "0" "8921" "0" "c.8921C>T" "r.(?)" "p.(Thr2974Met)" "" "0001037834" "00000280" "30" "8635" "0" "8635" "0" "c.8635C>A" "r.(?)" "p.(Leu2879Ile)" "" "0001037835" "00000280" "90" "6928" "0" "6934" "0" "c.6928_6934del" "r.(?)" "p.(Glu2310CysfsTer3)" "" "0001037836" "00000280" "70" "5840" "0" "5840" "0" "c.5840C>A" "r.(?)" "p.(Ser1947Tyr)" "" "0001037837" "00000280" "90" "5428" "0" "5428" "0" "c.5428C>T" "r.(?)" "p.(Arg1810Ter)" "" "0001037838" "00000280" "30" "3388" "0" "3388" "0" "c.3388C>T" "r.(?)" "p.(Pro1130Ser)" "" "0001037839" "00000280" "50" "2503" "0" "2503" "0" "c.2503G>A" "r.(?)" "p.(Val835Met)" "" "0001037840" "00000280" "30" "1811" "0" "1811" "0" "c.1811C>T" "r.(?)" "p.(Pro604Leu)" "" "0001044611" "00000280" "70" "9923" "0" "9923" "0" "c.9923G>A" "r.(9923G>A)" "p.(Trp3308*)" "62" "0001044621" "00000280" "90" "7906" "0" "7906" "0" "c.7906C>T" "r.(7906C>T)" "p.(Arg2636Ter)" "" "0001046233" "00000280" "50" "8617" "0" "8617" "0" "c.8617G>A" "r.(?)" "p.(Glu2873Lys)" "" "0001046234" "00000280" "90" "7330" "0" "7330" "0" "c.7330C>T" "r.(?)" "p.(Arg2444*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000019394" "0000039613" "0000154893" "0000354898" "0000291174" "0000647863" "0000291175" "0000647864" "0000291176" "0000647865" "0000291177" "0000647866" "0000291178" "0000647867" "0000291179" "0000647868" "0000291180" "0000647869" "0000291181" "0000647870" "0000291182" "0000647871" "0000291183" "0000647872" "0000291184" "0000647873" "0000305363" "0000669051" "0000305364" "0000669052" "0000305365" "0000669053" "0000305366" "0000669054" "0000379159" "0000792260" "0000379159" "0000792261" "0000399997" "0000832706" "0000399997" "0000832707" "0000399999" "0000832714" "0000399999" "0000832715" "0000436941" "0000931636" "0000436941" "0000931637" "0000455282" "0001007422" "0000466963" "0001044611" "0000466963" "0001044621"