### LOVD-version 3000-220 ### 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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" "1" "2548" "8029" "602997" "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 nÂș 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" "00006" "2018-03-30 12:16:31"
## 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 = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00034" "MGA-1" "anemia, megaloblastic, type 1 (MGA-1)" "" "261100" "" "" "" "00008" "2012-08-30 15:23:15" "00006" "2015-12-08 23:59:30"
"00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22"
"01644" "ASAR" "syndrome, Alport, autosomal dominant (ASAR)" "" "203780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2018-02-16 17:27:41"
## 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 = 2
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00019409" "00399"
"00154032" "01644"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00034, 00399, 01644
## Count = 1
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"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"
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{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"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{geneid}}"
"0000019394" "CUBN"
"0000019394" "NPHS1"
"0000154893" "COL4A5"
## 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 = 121
"{{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}}"
"0000001701" "0" "99" "10" "17083159" "17083159" "subst" "0.000153775" "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" ""
"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" ""
"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" ""
"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" ""
"0000001705" "0" "77" "10" "17147455" "17147455" "subst" "0" "00015" "CUBN_000005" "g.17147455C>T" "" "{PMID:Tanner et al. 2004:15024727}" "" "" "1 Finnish MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17105456C>T" ""
"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" ""
"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" "" "" "" ""
"0000001708" "11" "77" "10" "17152923" "17152923" "subst" "0.0000768876" "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" ""
"0000001724" "0" "77" "10" "17171119" "17171119" "subst" "0" "00015" "CUBN_000009" "g.17171119C>T" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Pakistani MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17129120C>T" ""
"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" "" "" "" "" "" ""
"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" ""
"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" ""
"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" ""
"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" ""
"0000001731" "0" "99" "10" "17145128" "17145128" "del" "0" "00015" "CUBN_000016" "g.17145128delC" "" "{PMID:Tanner et al. 2012:22929189}" "" "p.Gly509fs" "1 Western European MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17103129delC" ""
"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" ""
"0000001733" "0" "99" "10" "17130272" "17130272" "del" "0" "00015" "CUBN_000018" "g.17130272delC" "" "{PMID:Tanner et al. 2012:22929189}" "" "p.Gly613fs" "1 Finnish MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17088273delC" ""
"0000001734" "0" "99" "10" "17130245" "17130245" "del" "0" "00015" "CUBN_000019" "g.17130245delG" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Western European MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17088246delG" ""
"0000001735" "0" "77" "10" "17127755" "17127755" "subst" "0" "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" ""
"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" ""
"0000001737" "0" "77" "10" "17113564" "17113564" "subst" "0" "00015" "CUBN_000022" "g.17113564G>A" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 Dutch MGA1 patient (het)" "SUMMARY record" "" "" "" "" "" "g.17071565G>A" ""
"0000001738" "0" "99" "10" "17113517" "17113535" "del" "0" "00015" "CUBN_000023" "g.17113517_17113535del" "" "{PMID:Tanner et al. 2012:22929189}" "" "c.2511_2529del" "1 English MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17071518_17071536del" ""
"0000001739" "0" "77" "10" "17113456" "17113456" "subst" "0.00845763" "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" ""
"0000001740" "3" "99" "10" "17113435" "17113436" "del" "0" "00015" "CUBN_000025" "g.17113435_17113436delTC" "" "{PMID:Tanner et al. 2012:22929189}" "" "p.Asp872fs" "2 Ashkenazi MGA1 patients (hom)" "SUMMARY record" "yes" "" "" "" "" "g.17071436_17071437delTC" ""
"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" ""
"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" ""
"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" ""
"0000001744" "0" "99" "10" "17107550" "17107550" "del" "0" "00015" "CUBN_000029" "g.17107550delA" "" "{PMID:Tanner et al. 2012:22929189}" "" "p.Thr1032*" "1 Northern European MGA1 family (het)" "SUMMARY record" "yes" "" "" "" "" "g.17065551delA" ""
"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" ""
"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" ""
"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" ""
"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" ""
"0000001751" "0" "77" "10" "17061832" "17061832" "subst" "0" "00015" "CUBN_000036" "g.17061832C>T" "" "{PMID:Tanner et al. 2012:22929189}" "" "" "1 English MGA1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.17019833C>T" ""
"0000039613" "0" "50" "10" "16967407" "16967407" "subst" "0.00030755" "00746" "CUBN_000037" "g.16967407T>C" "" "{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}" "" "" "" "Unknown" "" "" "0" "" "" "g.16925408T>C" ""
"0000248626" "0" "10" "10" "17024615" "17024615" "subst" "0.748808" "02333" "CUBN_000063" "g.17024615A>T" "" "" "" "CUBN(NM_001081.3):c.4563T>A (p.I1521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000248761" "0" "10" "10" "17156151" "17156151" "subst" "0.698447" "02333" "CUBN_000083" "g.17156151A>G" "" "" "" "CUBN(NM_001081.3):c.758T>C (p.F253S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000249139" "0" "10" "10" "17164788" "17164788" "del" "0" "02333" "CUBN_000073" "g.17164788del" "" "" "" "CUBN(NM_001081.3):c.593+21delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000249416" "0" "30" "10" "16955978" "16955978" "subst" "0.00638167" "02325" "CUBN_000051" "g.16955978A>T" "" "" "" "CUBN(NM_001081.3):c.7365T>A (p.D2455E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000254724" "0" "30" "10" "16957036" "16957036" "subst" "0.00238352" "02333" "CUBN_000082" "g.16957036A>G" "" "" "" "CUBN(NM_001081.3):c.7346T>C (p.M2449T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000255948" "0" "50" "10" "16911754" "16911754" "subst" "0.0000768876" "02333" "CUBN_000048" "g.16911754A>G" "" "" "" "CUBN(NM_001081.3):c.9335T>C (p.F3112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267209" "0" "30" "10" "16873305" "16873305" "subst" "0" "02333" "CUBN_000039" "g.16873305C>A" "" "" "" "CUBN(NM_001081.3):c.10474G>T (p.D3492Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267210" "0" "10" "10" "17147521" "17147521" "subst" "0.587575" "02333" "CUBN_000072" "g.17147521G>T" "" "" "" "CUBN(NM_001081.3):c.1165C>A (p.P389T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267211" "0" "10" "10" "17171265" "17171265" "subst" "0.890846" "02333" "CUBN_000074" "g.17171265G>C" "" "" "" "CUBN(NM_001081.3):c.123-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267212" "0" "10" "10" "17113563" "17113563" "subst" "0.335691" "02333" "CUBN_000069" "g.17113563C>T" "" "" "" "CUBN(NM_001081.3):c.2487G>A (p.S829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267213" "0" "50" "10" "17113425" "17113425" "subst" "0.0000768876" "02333" "CUBN_000068" "g.17113425C>A" "" "" "" "CUBN(NM_001081.3):c.2625G>T (p.E875D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267214" "0" "10" "10" "17110595" "17110595" "subst" "0.848301" "02333" "CUBN_000067" "g.17110595G>A" "" "" "" "CUBN(NM_001081.3):c.2791+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267215" "0" "10" "10" "17024503" "17024503" "subst" "0.748731" "02333" "CUBN_000062" "g.17024503G>A" "" "" "" "CUBN(NM_001081.3):c.4675C>T (p.P1559S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267216" "0" "30" "10" "16989253" "16989253" "subst" "0.000153775" "02333" "CUBN_000061" "g.16989253G>A" "" "" "" "CUBN(NM_001081.3):c.5323C>T (p.R1775W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267217" "0" "10" "10" "16979661" "16979661" "subst" "0.510841" "02333" "CUBN_000057" "g.16979661T>C" "" "" "" "CUBN(NM_001081.3):c.5856A>G (p.S1952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267218" "0" "10" "10" "16975078" "16975078" "subst" "0.171382" "02333" "CUBN_000056" "g.16975078G>A" "" "" "" "CUBN(NM_001081.3):c.6124+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267219" "0" "10" "10" "16967401" "16967401" "subst" "0.999616" "02333" "CUBN_000054" "g.16967401C>T" "" "" "" "CUBN(NM_001081.3):c.6485G>A (p.C2162Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267220" "0" "10" "10" "16943371" "16943371" "subst" "0.999923" "02333" "CUBN_000050" "g.16943371G>C" "" "" "" "CUBN(NM_001081.3):c.8150C>G (p.S2717W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267221" "0" "50" "10" "16942635" "16942635" "subst" "0.000768876" "02333" "CUBN_000049" "g.16942635G>A" "" "" "" "CUBN(NM_001081.3):c.8399C>T (p.T2800I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267222" "0" "10" "10" "16911749" "16911749" "subst" "0.00530524" "02333" "CUBN_000047" "g.16911749C>T" "" "" "" "CUBN(NM_001081.3):c.9340G>A (p.G3114S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267223" "0" "50" "10" "16882533" "16882533" "subst" "0.0000768876" "02333" "CUBN_000045" "g.16882533C>T" "" "" "" "CUBN(NM_001081.3):c.9828G>A (p.M3276I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000267224" "0" "10" "10" "16882518" "16882518" "subst" "0.714824" "02333" "CUBN_000044" "g.16882518T>C" "" "" "" "CUBN(NM_001081.3):c.9843A>G (p.T3281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000268639" "0" "50" "10" "16873308" "16873308" "subst" "0" "02329" "CUBN_000040" "g.16873308T>C" "" "" "" "CUBN(NM_001081.3):c.10471A>G (p.S3491G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000268640" "0" "50" "10" "16870883" "16870883" "subst" "0" "02333" "CUBN_000038" "g.16870883C>T" "" "" "" "CUBN(NM_001081.3):c.10685G>A (p.G3562E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000270653" "0" "10" "10" "17113456" "17113456" "subst" "0.00845763" "02333" "CUBN_000024" "g.17113456C>T" "" "" "" "CUBN(NM_001081.3):c.2594G>A (p.S865N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274616" "0" "30" "10" "16878309" "16878309" "subst" "0.000384438" "02333" "CUBN_000042" "g.16878309T>C" "" "" "" "CUBN(NM_001081.3):c.10105A>G (p.S3369G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274617" "0" "10" "10" "16873396" "16873396" "subst" "0.00353683" "02333" "CUBN_000041" "g.16873396G>A" "" "" "" "CUBN(NM_001081.3):c.10383C>T (p.S3461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274618" "0" "50" "10" "16873308" "16873308" "subst" "0" "01943" "CUBN_000040" "g.16873308T>C" "" "" "" "CUBN(NM_001081.3):c.10471A>G (p.S3491G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274619" "0" "50" "10" "17142211" "17142211" "subst" "0" "02333" "CUBN_000071" "g.17142211G>A" "" "" "" "CUBN(NM_001081.3):c.1558C>T (p.R520W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274620" "0" "10" "10" "17113827" "17113827" "subst" "0.006843" "02333" "CUBN_000070" "g.17113827G>A" "" "" "" "CUBN(NM_001081.3):c.2445C>T (p.V815=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274621" "0" "50" "10" "17110231" "17110231" "subst" "0" "02333" "CUBN_000066" "g.17110231C>T" "" "" "" "CUBN(NM_001081.3):c.2840G>A (p.G947D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274622" "0" "30" "10" "17089460" "17089460" "subst" "0" "02333" "CUBN_000065" "g.17089460G>A" "" "" "" "CUBN(NM_001081.3):c.3282C>T (p.S1094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274623" "0" "30" "10" "17087074" "17087074" "subst" "0.000922651" "02333" "CUBN_000064" "g.17087074C>T" "" "" "" "CUBN(NM_001081.3):c.3604G>A (p.A1202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274624" "0" "30" "10" "16982167" "16982167" "subst" "0" "02333" "CUBN_000060" "g.16982167C>A" "" "" "" "CUBN(NM_001081.3):c.5412G>T (p.T1804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274625" "0" "30" "10" "16982057" "16982057" "subst" "0.000461326" "02333" "CUBN_000059" "g.16982057G>A" "" "" "" "CUBN(NM_001081.3):c.5522C>T (p.T1841M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274626" "0" "50" "10" "16979758" "16979758" "subst" "0" "02333" "CUBN_000058" "g.16979758G>A" "" "" "" "CUBN(NM_001081.3):c.5759C>T (p.A1920V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274627" "0" "30" "10" "16970285" "16970285" "subst" "0.00153775" "02333" "CUBN_000055" "g.16970285G>C" "" "" "" "CUBN(NM_001081.3):c.6142C>G (p.Q2048E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274628" "0" "30" "10" "16960805" "16960805" "subst" "0" "02333" "CUBN_000053" "g.16960805G>A" "" "" "" "CUBN(NM_001081.3):c.6822-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274629" "0" "10" "10" "16960697" "16960697" "subst" "0.00730432" "02333" "CUBN_000052" "g.16960697T>A" "" "" "" "CUBN(NM_001081.3):c.6924A>T (p.S2308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274630" "0" "10" "10" "16893406" "16893406" "subst" "0.00784253" "02333" "CUBN_000046" "g.16893406G>C" "" "" "" "CUBN(NM_001081.3):c.9491C>G (p.S3164W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000274631" "0" "10" "10" "16882375" "16882375" "subst" "0.00615101" "02333" "CUBN_000043" "g.16882375G>A" "" "" "" "CUBN(NM_001081.3):c.9986C>T (p.S3329L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000342107" "0" "90" "10" "16982151" "16982151" "subst" "0.00030755" "02333" "CUBN_000079" "g.16982151G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000345972" "0" "70" "10" "16918923" "16918923" "subst" "0.000230663" "02333" "CUBN_000078" "g.16918923C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000346457" "0" "70" "10" "16877083" "16877083" "subst" "0" "02333" "CUBN_000075" "g.16877083T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000347814" "0" "70" "10" "16878312" "16878312" "subst" "0" "02333" "CUBN_000077" "g.16878312T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000349462" "0" "10" "10" "16877110" "16877110" "subst" "0.0212979" "02333" "CUBN_000076" "g.16877110G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000349970" "0" "90" "10" "17164796" "17164796" "subst" "0" "02333" "CUBN_000080" "g.17164796G>C" "" "" "" "CUBN(NM_001081.3):c.591C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" ""
"0000354898" "0" "00" "10" "16916403" "16916403" "subst" "0" "00687" "CUBN_000081" "g.16916403G>A" "" "{PMID:Lin 2014:25381091}, {DOI:Lin 2014:10.1186/1471-2369-15-175}" "" "C9206T" "" "Germline" "" "" "0" "" "" "" ""
"0000539594" "0" "30" "10" "16870927" "16870927" "subst" "0.00030755" "02333" "CUBN_000084" "g.16870927C>T" "" "" "" "CUBN(NM_001081.3):c.10641G>A (p.R3547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539595" "0" "30" "10" "16882333" "16882333" "subst" "0.00030755" "02333" "CUBN_000085" "g.16882333G>A" "" "" "" "CUBN(NM_001081.3):c.10028C>T (p.P3343L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539596" "0" "30" "10" "16918924" "16918924" "subst" "0.000538213" "02333" "CUBN_000086" "g.16918924G>A" "" "" "" "CUBN(NM_001081.3):c.9078C>T (p.F3026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539597" "0" "90" "10" "16918962" "16918963" "del" "0" "02333" "CUBN_000087" "g.16918962_16918963del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539598" "0" "50" "10" "16930427" "16930427" "subst" "0.00215285" "02333" "CUBN_000088" "g.16930427A>G" "" "" "" "CUBN(NM_001081.3):c.8894T>C (p.F2965S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539600" "0" "30" "10" "16948277" "16948277" "subst" "0.00030755" "02333" "CUBN_000089" "g.16948277T>G" "" "" "" "CUBN(NM_001081.3):c.7837A>C (p.I2613L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539601" "0" "30" "10" "16955978" "16955978" "subst" "0.00638167" "01943" "CUBN_000051" "g.16955978A>T" "" "" "" "CUBN(NM_001081.3):c.7365T>A (p.D2455E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539602" "0" "50" "10" "16957935" "16957935" "subst" "0.0000768876" "02333" "CUBN_000090" "g.16957935C>T" "" "" "" "CUBN(NM_001081.3):c.7095G>A (p.W2365*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539603" "0" "10" "10" "16960683" "16960683" "subst" "0.0000768876" "02333" "CUBN_000091" "g.16960683T>A" "" "" "" "CUBN(NM_001081.3):c.6938A>T (p.Y2313F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539604" "0" "90" "10" "16960688" "16960694" "del" "0" "02333" "CUBN_000092" "g.16960688_16960694del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539606" "0" "50" "10" "16967681" "16967681" "subst" "0.000230663" "02333" "CUBN_000094" "g.16967681C>T" "" "" "" "CUBN(NM_001081.3):c.6364G>A (p.V2122I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539607" "0" "50" "10" "16979677" "16979677" "subst" "0.00030755" "02333" "CUBN_000095" "g.16979677G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539608" "0" "10" "10" "16979714" "16979714" "subst" "0.145087" "02333" "CUBN_000096" "g.16979714T>C" "" "" "" "CUBN(NM_001081.3):c.5803A>G (p.S1935G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539609" "0" "30" "10" "16981015" "16981015" "subst" "0.00299862" "02333" "CUBN_000097" "g.16981015T>C" "" "" "" "CUBN(NM_001081.3):c.5680A>G (p.I1894V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539610" "0" "50" "10" "16981069" "16981069" "subst" "0.000615101" "02333" "CUBN_000098" "g.16981069A>C" "" "" "" "CUBN(NM_001081.3):c.5626T>G (p.S1876A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539611" "0" "10" "10" "16982061" "16982061" "subst" "0.0572813" "02333" "CUBN_000099" "g.16982061C>T" "" "" "" "CUBN(NM_001081.3):c.5518G>A (p.G1840S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539612" "0" "10" "10" "16990479" "16990479" "subst" "0" "02333" "CUBN_000100" "g.16990479G>A" "" "" "" "CUBN(NM_001081.3):c.5207C>T (p.S1736L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539613" "0" "30" "10" "16990490" "16990490" "subst" "0.000538213" "02333" "CUBN_000101" "g.16990490G>A" "" "" "" "CUBN(NM_001081.3):c.5196C>T (p.T1732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539614" "0" "30" "10" "17032483" "17032483" "subst" "0.00153775" "02333" "CUBN_000102" "g.17032483G>A" "" "" "" "CUBN(NM_001081.3):c.4200C>T (p.G1400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539615" "0" "50" "10" "17087048" "17087048" "subst" "0" "02333" "CUBN_000103" "g.17087048A>C" "" "" "" "CUBN(NM_001081.3):c.3630T>G (p.F1210L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539616" "0" "50" "10" "17088049" "17088049" "subst" "0" "02333" "CUBN_000104" "g.17088049C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539617" "0" "10" "10" "17089450" "17089450" "subst" "0.00407504" "02333" "CUBN_000105" "g.17089450C>A" "" "" "" "CUBN(NM_001081.3):c.3292G>T (p.A1098S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539618" "0" "30" "10" "17110639" "17110639" "subst" "0.00576657" "02333" "CUBN_000106" "g.17110639T>C" "" "" "" "CUBN(NM_001081.3):c.2756A>G (p.H919R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539619" "0" "50" "10" "17130330" "17130330" "subst" "0" "02333" "CUBN_000107" "g.17130330G>C" "" "" "" "CUBN(NM_001081.3):c.1780C>G (p.L594V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539620" "0" "50" "10" "17142232" "17142232" "subst" "0" "02333" "CUBN_000108" "g.17142232G>A" "" "" "" "CUBN(NM_001081.3):c.1537C>T (p.R513C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539621" "0" "30" "10" "17145184" "17145184" "subst" "0.00292173" "02333" "CUBN_000109" "g.17145184C>T" "" "" "" "CUBN(NM_001081.3):c.1470G>A (p.P490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539622" "0" "50" "10" "17151662" "17151662" "subst" "0.000922651" "02333" "CUBN_000110" "g.17151662T>C" "" "" "" "CUBN(NM_001081.3):c.1088A>G (p.D363G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539623" "0" "10" "10" "17152930" "17152930" "subst" "0.00469014" "02333" "CUBN_000111" "g.17152930C>T" "" "" "" "CUBN(NM_001081.3):c.1003G>A (p.A335T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000539624" "0" "30" "10" "17156173" "17156173" "subst" "0" "02333" "CUBN_000112" "g.17156173C>T" "" "" "" "CUBN(NM_001081.3):c.736G>A (p.V246I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000612381" "0" "90" "10" "16942762" "16942762" "del" "0" "02333" "chr10_004760" "g.16942762del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000612382" "0" "30" "10" "16957051" "16957051" "subst" "0.0000768876" "02333" "chr10_004761" "g.16957051C>T" "" "" "" "CUBN(NM_001081.3):c.7331G>A (p.R2444Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000612383" "0" "30" "10" "16962122" "16962122" "subst" "0.00030755" "02333" "chr10_004762" "g.16962122C>T" "" "" "" "CUBN(NM_001081.3):c.6661G>A (p.V2221I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000612384" "0" "50" "10" "16975115" "16975115" "subst" "0" "02333" "chr10_004763" "g.16975115C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000612385" "0" "90" "10" "17061837" "17061837" "del" "0" "02333" "chr10_004764" "g.17061837del" "" "" "" "CUBN(NM_001081.3):c.4165delT (p.Y1389Tfs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000612386" "0" "50" "10" "17061969" "17061969" "subst" "0.0000768876" "02333" "chr10_004765" "g.17061969G>C" "" "" "" "CUBN(NM_001081.3):c.4031C>G (p.P1344R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000612387" "0" "30" "10" "17088069" "17088069" "subst" "0" "02333" "chr10_004766" "g.17088069T>C" "" "" "" "CUBN(NM_001081.3):c.3354A>G (p.P1118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000612388" "0" "50" "10" "17089531" "17089531" "subst" "0" "02333" "chr10_004767" "g.17089531T>C" "" "" "" "CUBN(NM_001081.3):c.3211A>G (p.N1071D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000612389" "0" "30" "10" "17146599" "17146599" "subst" "0.000153775" "02333" "chr10_004768" "g.17146599A>G" "" "" "" "CUBN(NM_001081.3):c.1236T>C (p.T412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
"0000622362" "0" "50" "10" "16979586" "16979586" "subst" "" "02333" "chr10_005141" "g.16979586C>T" "" "" "" "CUBN(NM_001081.3):c.5926+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" ""
## 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 = 121
"{{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}}" "{{VariantOnTranscript/Classification}}"
"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" "0" "0" "0" "0" "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.1526delG" "r.(1526delg)" "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.1838delG" "r.(1838delg)" "p.(Gly613Glufs*9)" "15" ""
"0000001734" "00000280" "99" "1865" "0" "1865" "0" "c.1865delC" "r.(1865delc)" "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_2615delGA" "r.(2614_2615delga)" "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.3096delT" "r.(3096delu)" "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.(=)" "" "benign"
"0000248761" "00000280" "10" "758" "0" "758" "0" "c.758T>C" "r.(?)" "p.(Phe253Ser)" "" "benign"
"0000249139" "00000280" "10" "593" "21" "593" "21" "c.593+21del" "r.(=)" "p.(=)" "" "benign"
"0000249416" "00000280" "30" "7365" "0" "7365" "0" "c.7365T>A" "r.(?)" "p.(Asp2455Glu)" "" "likely benign"
"0000254724" "00000280" "30" "7346" "0" "7346" "0" "c.7346T>C" "r.(?)" "p.(Met2449Thr)" "" "likely benign"
"0000255948" "00000280" "50" "9335" "0" "9335" "0" "c.9335T>C" "r.(?)" "p.(Phe3112Ser)" "" "VUS"
"0000267209" "00000280" "30" "10474" "0" "10474" "0" "c.10474G>T" "r.(?)" "p.(Asp3492Tyr)" "" "likely benign"
"0000267210" "00000280" "10" "1165" "0" "1165" "0" "c.1165C>A" "r.(?)" "p.(Pro389Thr)" "" "benign"
"0000267211" "00000280" "10" "123" "-16" "123" "-16" "c.123-16C>G" "r.(=)" "p.(=)" "" "benign"
"0000267212" "00000280" "10" "2487" "0" "2487" "0" "c.2487G>A" "r.(?)" "p.(=)" "" "benign"
"0000267213" "00000280" "50" "2625" "0" "2625" "0" "c.2625G>T" "r.(?)" "p.(Glu875Asp)" "" "VUS"
"0000267214" "00000280" "10" "2791" "9" "2791" "9" "c.2791+9C>T" "r.(=)" "p.(=)" "" "benign"
"0000267215" "00000280" "10" "4675" "0" "4675" "0" "c.4675C>T" "r.(?)" "p.(Pro1559Ser)" "" "benign"
"0000267216" "00000280" "30" "5323" "0" "5323" "0" "c.5323C>T" "r.(?)" "p.(Arg1775Trp)" "" "likely benign"
"0000267217" "00000280" "10" "5856" "0" "5856" "0" "c.5856A>G" "r.(?)" "p.(=)" "" "benign"
"0000267218" "00000280" "10" "6124" "8" "6124" "8" "c.6124+8C>T" "r.(=)" "p.(=)" "" "benign"
"0000267219" "00000280" "10" "6485" "0" "6485" "0" "c.6485G>A" "r.(?)" "p.(Cys2162Tyr)" "" "benign"
"0000267220" "00000280" "10" "8150" "0" "8150" "0" "c.8150C>G" "r.(?)" "p.(Ser2717Trp)" "" "benign"
"0000267221" "00000280" "50" "8399" "0" "8399" "0" "c.8399C>T" "r.(?)" "p.(Thr2800Ile)" "" "VUS"
"0000267222" "00000280" "10" "9340" "0" "9340" "0" "c.9340G>A" "r.(?)" "p.(Gly3114Ser)" "" "benign"
"0000267223" "00000280" "50" "9828" "0" "9828" "0" "c.9828G>A" "r.(?)" "p.(Met3276Ile)" "" "VUS"
"0000267224" "00000280" "10" "9843" "0" "9843" "0" "c.9843A>G" "r.(?)" "p.(=)" "" "benign"
"0000268639" "00000280" "50" "10471" "0" "10471" "0" "c.10471A>G" "r.(?)" "p.(Ser3491Gly)" "" "VUS"
"0000268640" "00000280" "50" "10685" "0" "10685" "0" "c.10685G>A" "r.(?)" "p.(Gly3562Glu)" "" "VUS"
"0000270653" "00000280" "10" "2594" "0" "2594" "0" "c.2594G>A" "r.(?)" "p.(Ser865Asn)" "" "benign"
"0000274616" "00000280" "30" "10105" "0" "10105" "0" "c.10105A>G" "r.(?)" "p.(Ser3369Gly)" "" "likely benign"
"0000274617" "00000280" "10" "10383" "0" "10383" "0" "c.10383C>T" "r.(?)" "p.(=)" "" "benign"
"0000274618" "00000280" "50" "10471" "0" "10471" "0" "c.10471A>G" "r.(?)" "p.(Ser3491Gly)" "" "VUS"
"0000274619" "00000280" "50" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Arg520Trp)" "" "VUS"
"0000274620" "00000280" "10" "2445" "0" "2445" "0" "c.2445C>T" "r.(?)" "p.(=)" "" "benign"
"0000274621" "00000280" "50" "2840" "0" "2840" "0" "c.2840G>A" "r.(?)" "p.(Gly947Asp)" "" "VUS"
"0000274622" "00000280" "30" "3282" "0" "3282" "0" "c.3282C>T" "r.(?)" "p.(=)" "" "likely benign"
"0000274623" "00000280" "30" "3604" "0" "3604" "0" "c.3604G>A" "r.(?)" "p.(Ala1202Thr)" "" "likely benign"
"0000274624" "00000280" "30" "5412" "0" "5412" "0" "c.5412G>T" "r.(?)" "p.(=)" "" "likely benign"
"0000274625" "00000280" "30" "5522" "0" "5522" "0" "c.5522C>T" "r.(?)" "p.(Thr1841Met)" "" "likely benign"
"0000274626" "00000280" "50" "5759" "0" "5759" "0" "c.5759C>T" "r.(?)" "p.(Ala1920Val)" "" "VUS"
"0000274627" "00000280" "30" "6142" "0" "6142" "0" "c.6142C>G" "r.(?)" "p.(Gln2048Glu)" "" "likely benign"
"0000274628" "00000280" "30" "6822" "-6" "6822" "-6" "c.6822-6C>T" "r.(=)" "p.(=)" "" "likely benign"
"0000274629" "00000280" "10" "6924" "0" "6924" "0" "c.6924A>T" "r.(?)" "p.(=)" "" "benign"
"0000274630" "00000280" "10" "9491" "0" "9491" "0" "c.9491C>G" "r.(?)" "p.(Ser3164Trp)" "" "benign"
"0000274631" "00000280" "10" "9986" "0" "9986" "0" "c.9986C>T" "r.(?)" "p.(Ser3329Leu)" "" "benign"
"0000342107" "00000280" "90" "5428" "0" "5428" "0" "c.5428C>T" "r.(?)" "p.(Arg1810*)" "" "pathogenic"
"0000345972" "00000280" "70" "9079" "0" "9079" "0" "c.9079G>A" "r.(?)" "p.(Gly3027Arg)" "" "likely pathogenic"
"0000346457" "00000280" "70" "10292" "0" "10292" "0" "c.10292A>C" "r.(?)" "p.(His3431Pro)" "" "likely pathogenic"
"0000347814" "00000280" "70" "10102" "0" "10102" "0" "c.10102A>G" "r.(?)" "p.(Met3368Val)" "" "likely pathogenic"
"0000349462" "00000280" "10" "10265" "0" "10265" "0" "c.10265C>T" "r.(?)" "p.(Thr3422Ile)" "" "benign"
"0000349970" "00000280" "90" "591" "0" "591" "0" "c.591C>G" "r.(?)" "p.(Tyr197*)" "" "pathogenic"
"0000354898" "00000280" "00" "9206" "0" "9206" "0" "c.9206C>T" "r.(?)" "p.(Thr3069Ile)" "58" "VUS"
"0000539594" "00000280" "30" "10641" "0" "10641" "0" "c.10641G>A" "r.(?)" "p.(=)" "" "likely benign"
"0000539595" "00000280" "30" "10028" "0" "10028" "0" "c.10028C>T" "r.(?)" "p.(Pro3343Leu)" "" "likely benign"
"0000539596" "00000280" "30" "9078" "0" "9078" "0" "c.9078C>T" "r.(?)" "p.(=)" "" "likely benign"
"0000539597" "00000280" "90" "9040" "0" "9041" "0" "c.9040_9041del" "r.(?)" "p.(Leu3014Alafs*2)" "" "pathogenic"
"0000539598" "00000280" "50" "8894" "0" "8894" "0" "c.8894T>C" "r.(?)" "p.(Phe2965Ser)" "" "VUS"
"0000539600" "00000280" "30" "7837" "0" "7837" "0" "c.7837A>C" "r.(?)" "p.(Ile2613Leu)" "" "likely benign"
"0000539601" "00000280" "30" "7365" "0" "7365" "0" "c.7365T>A" "r.(?)" "p.(Asp2455Glu)" "" "likely benign"
"0000539602" "00000280" "50" "7095" "0" "7095" "0" "c.7095G>A" "r.(?)" "p.(Trp2365*)" "" "VUS"
"0000539603" "00000280" "10" "6938" "0" "6938" "0" "c.6938A>T" "r.(?)" "p.(Tyr2313Phe)" "" "benign"
"0000539604" "00000280" "90" "6928" "0" "6934" "0" "c.6928_6934del" "r.(?)" "p.(Glu2310Cysfs*3)" "" "pathogenic"
"0000539606" "00000280" "50" "6364" "0" "6364" "0" "c.6364G>A" "r.(?)" "p.(Val2122Ile)" "" "VUS"
"0000539607" "00000280" "50" "5840" "0" "5840" "0" "c.5840C>A" "r.(?)" "p.(Ser1947Tyr)" "" "VUS"
"0000539608" "00000280" "10" "5803" "0" "5803" "0" "c.5803A>G" "r.(?)" "p.(Ser1935Gly)" "" "benign"
"0000539609" "00000280" "30" "5680" "0" "5680" "0" "c.5680A>G" "r.(?)" "p.(Ile1894Val)" "" "likely benign"
"0000539610" "00000280" "50" "5626" "0" "5626" "0" "c.5626T>G" "r.(?)" "p.(Ser1876Ala)" "" "VUS"
"0000539611" "00000280" "10" "5518" "0" "5518" "0" "c.5518G>A" "r.(?)" "p.(Gly1840Ser)" "" "benign"
"0000539612" "00000280" "10" "5207" "0" "5207" "0" "c.5207C>T" "r.(?)" "p.(Ser1736Leu)" "" "benign"
"0000539613" "00000280" "30" "5196" "0" "5196" "0" "c.5196C>T" "r.(?)" "p.(=)" "" "likely benign"
"0000539614" "00000280" "30" "4200" "0" "4200" "0" "c.4200C>T" "r.(?)" "p.(=)" "" "likely benign"
"0000539615" "00000280" "50" "3630" "0" "3630" "0" "c.3630T>G" "r.(?)" "p.(Phe1210Leu)" "" "VUS"
"0000539616" "00000280" "50" "3374" "0" "3374" "0" "c.3374G>T" "r.(?)" "p.(Gly1125Val)" "" "VUS"
"0000539617" "00000280" "10" "3292" "0" "3292" "0" "c.3292G>T" "r.(?)" "p.(Ala1098Ser)" "" "benign"
"0000539618" "00000280" "30" "2756" "0" "2756" "0" "c.2756A>G" "r.(?)" "p.(His919Arg)" "" "likely benign"
"0000539619" "00000280" "50" "1780" "0" "1780" "0" "c.1780C>G" "r.(?)" "p.(Leu594Val)" "" "VUS"
"0000539620" "00000280" "50" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513Cys)" "" "VUS"
"0000539621" "00000280" "30" "1470" "0" "1470" "0" "c.1470G>A" "r.(?)" "p.(=)" "" "likely benign"
"0000539622" "00000280" "50" "1088" "0" "1088" "0" "c.1088A>G" "r.(?)" "p.(Asp363Gly)" "" "VUS"
"0000539623" "00000280" "10" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Ala335Thr)" "" "benign"
"0000539624" "00000280" "30" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Val246Ile)" "" "likely benign"
"0000612381" "00000280" "90" "8274" "0" "8274" "0" "c.8274del" "r.(?)" "p.(Ile2759Serfs*2)" "" "pathogenic"
"0000612382" "00000280" "30" "7331" "0" "7331" "0" "c.7331G>A" "r.(?)" "p.(Arg2444Gln)" "" "likely benign"
"0000612383" "00000280" "30" "6661" "0" "6661" "0" "c.6661G>A" "r.(?)" "p.(Val2221Ile)" "" "likely benign"
"0000612384" "00000280" "50" "6095" "0" "6095" "0" "c.6095G>A" "r.(?)" "p.(Cys2032Tyr)" "" "VUS"
"0000612385" "00000280" "90" "4165" "0" "4165" "0" "c.4165del" "r.(?)" "p.(Tyr1389Thrfs*74)" "" "pathogenic"
"0000612386" "00000280" "50" "4031" "0" "4031" "0" "c.4031C>G" "r.(?)" "p.(Pro1344Arg)" "" "VUS"
"0000612387" "00000280" "30" "3354" "0" "3354" "0" "c.3354A>G" "r.(?)" "p.(=)" "" "likely benign"
"0000612388" "00000280" "50" "3211" "0" "3211" "0" "c.3211A>G" "r.(?)" "p.(Asn1071Asp)" "" "VUS"
"0000612389" "00000280" "30" "1236" "0" "1236" "0" "c.1236T>C" "r.(?)" "p.(=)" "" "likely benign"
"0000622362" "00000280" "50" "5926" "5" "5926" "5" "c.5926+5G>A" "r.spl?" "p.?" "" "VUS"
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000019394" "0000039613"
"0000154893" "0000354898"