### 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 <http://www.findis.org/>\r\nSee also mutation database for AMN gene <http://databases.lovd.nl/shared/genes/AMN>"	"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 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 <b>Juha Muilu</b> 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"	""	""	""	""
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"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"