### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CIB2)
# 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}}"
"CIB2" "calcium and integrin binding family member 2" "15" "q24" "unknown" "NG_033006.1" "UD_132465239250" "" "https://www.LOVD.nl/CIB2" "" "1" "24579" "10518" "605564" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CIB2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-11 09:55:03" "00000" "2024-04-19 20:27:30"
## 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}}"
"00024187" "CIB2" "transcript variant 1" "003" "NM_006383.3" "" "NP_006374.1" "" "" "" "-320" "1269" "564" "78423877" "78396948" "00006" "2016-10-17 11:15:58" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"02851" "DFNB48" "deafness, autosomal recessive, type 48 (DFNB48)" "AR" "609439" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-11 09:54:01"
"03762" "USH1J" "Usher syndrome, type 1J (USH1J)" "AR" "614869" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-11 09:54:40"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00"
"05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08"
"05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" ""
"05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" ""
"05981" "USH1" "Usher syndrome, type I" "" "276903" "" "" "" "00110" "2021-10-25 15:10:06" "00006" "2021-12-11 13:56:28"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}" "{{diseaseid}}"
"CIB2" "02851"
"CIB2" "03762"
"CIB2" "05400"
"CIB2" "05415"
## Individuals ## Do not remove or alter this header ##
## Count = 51
"{{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}}"
"00029679" "" "" "" "1" "" "00784" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "no" "Netherlands" "" "0" "" "" "" "W06-0987"
"00029681" "" "" "" "6" "" "00784" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "6-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Netherlands" "" "0" "" "" "Pakistan" "W09-1575"
"00029683" "" "" "" "1" "" "00784" "" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00029793" "" "" "" "4" "" "00006" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}" "6-generation family, 4 affecteds (1F, 3M), unaffected carrier parents" "" "yes" "Pakistan" "" "0" "" "" "" "FamPKDF117"
"00029794" "" "" "" "7" "" "00006" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}" "5-generation family, 7 affecteds (3F, 4M), unaffected carrier parents" "" "yes" "Turkey" "" "0" "" "" "" "Fam802"
"00029795" "" "" "" "4" "" "00006" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}" "4-generation family, 4 affecteds (4M), unaffected carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "FamDEM4225"
"00029796" "" "" "" "5" "" "00006" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}" "534 controls" "-" "-" "Pakistan" "" "0" "" "" "" ""
"00029797" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}" "534 controls" "-" "-" "Pakistan" "" "0" "" "" "" ""
"00029798" "" "" "" "5" "" "00006" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}" "6-generation family, 5 affecteds (3F, 2M), unaffected carrier parents" "" "yes" "Pakistan" "" "0" "" "" "" "FamDEM4025"
"00029799" "" "" "" "9" "" "00006" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}" "7-generation family, 9 affecteds (5F, 4M), unaffected carrier parents" "" "yes" "Pakistan" "" "0" "" "" "" "FamPKDF356"
"00029800" "" "" "" "6" "" "00006" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}" "6-generation family, 4 affecteds (2F, 4M), unaffected carrier parents" "" "yes" "Pakistan" "" "0" "" "" "" "FamPKDF282"
"00080019" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier mother" "F" "no" "Netherlands" "" "0" "" "" "" "Fam07-1069"
"00163035" "" "" "" "3" "" "02416" "{PMID:Booth 2015:26416264}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents" "M" "" "Iran" "" "0" "" "" "" "FamL-8900092PatII1"
"00163036" "" "" "00163035" "1" "" "02416" "{PMID:Booth 2015:26416264}" "sister" "F" "" "Iran" "" "0" "" "" "" "FamL-8900092PatII2"
"00285101" "" "" "" "3" "" "00004" "{PMID:Booth 2018:29112224}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "L-1644"
"00285102" "" "" "" "1" "" "00004" "{PMID:Booth 2018:29112224}" "2-generation family, 1 affected, unaffected parents" "F" "" "United States" "" "0" "" "" "Europe" "Trio-B"
"00285108" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" ""
"00309610" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1571"
"00328521" "" "" "" "4" "" "00006" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "3-generation family, 4 affected sibs (3F, M), unaffected heterozygous carrier parents" "F;M" "" "Pakistan" "" "0" "" "" "" "W09-1600"
"00328522" "" "" "" "5" "" "00000" "{PMID:Booth 2018:29112224}" "3-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Iran" "" "0" "" "" "" "L-3156"
"00328523" "" "" "" "2" "" "00000" "{PMID:Booth 2018:29112224}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "" "" "661"
"00328524" "" "" "" "1" "" "00000" "{PMID:Booth 2018:29112224}" "2-generation family, 1 affected, unaffected parents" "F" "" "United States" "" "0" "" "" "Europe" "51550"
"00328525" "" "" "" "1" "" "00000" "{PMID:Booth 2018:29112224}" "2-generation family, 1 affected, unaffected parents" "M" "" "United States" "" "0" "" "" "Europe" "Trio-C"
"00328526" "" "" "" "1" "" "00000" "{PMID:Patel 2015:26426422}" "2-generation family, affectedsister/brother, unaffected parents" "F;M" "" "United States" "" "0" "" "" "Hispanic" "FamJSPat001/002"
"00328527" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" ""
"00328528" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" ""
"00328529" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" ""
"00328530" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" ""
"00328531" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" ""
"00328532" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" ""
"00328533" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" ""
"00328534" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" ""
"00328535" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" ""
"00328536" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" ""
"00387251" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" ""
"00441166" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4042"
"00441167" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4053"
"00441168" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4630"
"00441169" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4722"
"00441170" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4749"
"00441171" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4785"
"00441172" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4789"
"00441173" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4791"
"00441174" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4793"
"00441175" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4868"
"00441176" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4870"
"00441177" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1093"
"00441178" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1285"
"00441179" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF520"
"00441180" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF781"
"00441181" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKZA13"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 51
"{{individualid}}" "{{diseaseid}}"
"00029679" "02851"
"00029681" "02851"
"00029683" "02851"
"00029793" "03762"
"00029794" "02851"
"00029795" "02851"
"00029796" "00000"
"00029797" "00000"
"00029798" "02851"
"00029799" "02851"
"00029800" "02851"
"00080019" "05103"
"00163035" "05103"
"00163036" "05103"
"00285101" "05086"
"00285102" "05103"
"00285108" "05086"
"00309610" "04214"
"00328521" "05103"
"00328522" "05103"
"00328523" "05103"
"00328524" "05103"
"00328525" "05103"
"00328526" "05103"
"00328527" "05103"
"00328528" "05103"
"00328529" "05103"
"00328530" "05103"
"00328531" "05103"
"00328532" "05103"
"00328533" "05103"
"00328534" "05103"
"00328535" "05103"
"00328536" "05103"
"00387251" "05981"
"00441166" "05086"
"00441167" "05086"
"00441168" "05086"
"00441169" "05086"
"00441170" "05086"
"00441171" "05086"
"00441172" "05086"
"00441173" "05086"
"00441174" "05086"
"00441175" "05086"
"00441176" "05086"
"00441177" "05086"
"00441178" "05086"
"00441179" "05086"
"00441180" "05086"
"00441181" "05086"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 02851, 03762, 04214, 05086, 05103, 05400, 05415, 05981
## Count = 48
"{{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}}"
"0000025759" "02851" "00029679" "00569" "Unknown" "" "" "" "" "" "" "" "" "" "" ""
"0000025760" "03762" "00029793" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" ""
"0000025761" "02851" "00029794" "00006" "Familial, autosomal recessive" "" "non syndromic hearing impairment" "" "" "" "" "" "" "" "" ""
"0000025762" "02851" "00029795" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000025763" "02851" "00029798" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000025764" "02851" "00029681" "00569" "Unknown" "" "" "" "" "" "" "" "" "" "" ""
"0000025765" "02851" "00029683" "00569" "Unknown" "" "" "" "" "" "" "" "" "" "" ""
"0000025766" "02851" "00029799" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000025767" "02851" "00029800" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000128172" "05103" "00163035" "02416" "-" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic (DFN)"
"0000128173" "05103" "00163036" "02416" "-" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic (DFN)"
"0000218261" "05086" "00285101" "00008" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB48" "non-syndromic hearing loss"
"0000218262" "05086" "00285108" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive"
"0000218601" "05103" "00285102" "00008" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB48" "non-syndromic hearing loss"
"0000234930" "04214" "00309610" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "Usher syndrome"
"0000246746" "05103" "00080019" "00006" "Familial, autosomal recessive" "" "congenital, profound sensorineural hearing loss, failed the neonatal hearing screening; BERA no responses; vestibular examination displayed excitable vestibules with normal responses right and unilateral weakness left vestibule; cochlear implantation left ear; CT scan no temporal bone abnormalities; ophthalmologic and renal examination no abnormalities; no signs night blindness" "" "" "" "" "" "" "" "" "deafness"
"0000246747" "05103" "00328521" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "deafness"
"0000246749" "05103" "00328522" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB48" "non-syndromic hearing loss"
"0000246750" "05103" "00328523" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB48" "non-syndromic hearing loss"
"0000246751" "05103" "00328524" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB48" "non-syndromic hearing loss"
"0000246752" "05103" "00328525" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB48" "non-syndromic hearing loss"
"0000246753" "05103" "00328526" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss"
"0000246754" "05103" "00328527" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss"
"0000246755" "05103" "00328528" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss"
"0000246756" "05103" "00328529" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss"
"0000246757" "05103" "00328530" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss"
"0000246758" "05103" "00328531" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss"
"0000246759" "05103" "00328532" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss"
"0000246760" "05103" "00328533" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss"
"0000246761" "05103" "00328534" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss"
"0000246762" "05103" "00328535" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss"
"0000246763" "05103" "00328536" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss"
"0000330606" "05086" "00441166" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330607" "05086" "00441167" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330608" "05086" "00441168" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330609" "05086" "00441169" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330610" "05086" "00441170" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330611" "05086" "00441171" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330612" "05086" "00441172" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330613" "05086" "00441173" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330614" "05086" "00441174" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330615" "05086" "00441175" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330616" "05086" "00441176" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330617" "05086" "00441177" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330618" "05086" "00441178" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330619" "05086" "00441179" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330620" "05086" "00441180" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
"0000330621" "05086" "00441181" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss"
## Screenings ## Do not remove or alter this header ##
## Count = 51
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000029722" "00029679" "1" "00784" "00569" "2015-01-27 10:24:15" "00569" "2015-01-27 11:14:38" "PCR" "DNA" "" ""
"0000029725" "00029681" "1" "00784" "00569" "2015-01-27 11:07:08" "" "" "PCR" "DNA" "" ""
"0000029730" "00029683" "1" "00784" "00569" "2015-01-27 13:33:18" "" "" "PCR" "DNA" "" ""
"0000029836" "00029793" "1" "00006" "00006" "2015-02-08 16:08:46" "" "" "SEQ" "DNA" "" ""
"0000029837" "00029794" "1" "00006" "00006" "2015-02-08 16:25:53" "" "" "SEQ" "DNA" "" ""
"0000029838" "00029795" "1" "00006" "00006" "2015-02-08 16:32:58" "" "" "SEQ" "DNA" "" ""
"0000029839" "00029796" "1" "00006" "00006" "2015-02-08 16:39:29" "" "" "SEQ" "DNA" "" ""
"0000029840" "00029797" "1" "00006" "00006" "2015-02-08 16:42:34" "" "" "SEQ" "DNA" "" ""
"0000029841" "00029798" "1" "00006" "00006" "2015-02-08 16:47:37" "" "" "SEQ" "DNA" "" ""
"0000029842" "00029799" "1" "00006" "00006" "2015-02-08 17:01:38" "" "" "SEQ" "DNA" "" ""
"0000029843" "00029800" "1" "00006" "00006" "2015-02-08 17:05:40" "" "" "SEQ" "DNA" "" ""
"0000080098" "00080019" "1" "01740" "01740" "2016-09-01 12:14:07" "01740" "2016-09-02 08:41:42" "SEQ-NG" "DNA" "" ""
"0000163900" "00163035" "1" "02416" "00110" "2015-12-11 18:09:33" "" "" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000163901" "00163036" "1" "02416" "00110" "2015-12-11 18:13:05" "" "" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000286251" "00285101" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2021-01-28 15:53:43" "SEQ-NG" "DNA" "" ""
"0000286252" "00285102" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2021-01-28 15:57:11" "SEQ-NG" "DNA" "" ""
"0000286258" "00285108" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" ""
"0000310755" "00309610" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" ""
"0000329735" "00328521" "1" "00006" "00006" "2021-01-28 15:10:22" "" "" "SEQ" "DNA" "" ""
"0000329737" "00328522" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ-NG" "DNA" "" ""
"0000329738" "00328523" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ-NG" "DNA" "" ""
"0000329739" "00328524" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ-NG" "DNA" "" ""
"0000329740" "00328525" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ-NG" "DNA" "" ""
"0000329741" "00328526" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ-NG" "DNA" "" "WES"
"0000329742" "00328527" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" ""
"0000329743" "00328528" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" ""
"0000329744" "00328529" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" ""
"0000329745" "00328530" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" ""
"0000329746" "00328531" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" ""
"0000329747" "00328532" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" ""
"0000329748" "00328533" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" ""
"0000329749" "00328534" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" ""
"0000329750" "00328535" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" ""
"0000329751" "00328536" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" ""
"0000388477" "00387251" "1" "02416" "02416" "2021-10-28 14:07:06" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000442652" "00441166" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442653" "00441167" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442654" "00441168" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442655" "00441169" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442656" "00441170" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442657" "00441171" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442658" "00441172" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442659" "00441173" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442660" "00441174" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442661" "00441175" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442662" "00441176" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442663" "00441177" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442664" "00441178" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442665" "00441179" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442666" "00441180" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000442667" "00441181" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 34
"{{screeningid}}" "{{geneid}}"
"0000029722" "CIB2"
"0000029725" "CIB2"
"0000029730" "CIB2"
"0000029836" "CIB2"
"0000029837" "CIB2"
"0000029838" "CIB2"
"0000029839" "CIB2"
"0000029840" "CIB2"
"0000029841" "CIB2"
"0000029842" "CIB2"
"0000029843" "CIB2"
"0000080098" "CIB2"
"0000163900" "PDZD7"
"0000163901" "PDZD7"
"0000286251" "CIB2"
"0000286252" "CIB2"
"0000286258" "CIB2"
"0000310755" "CIB2"
"0000329735" "CIB2"
"0000329737" "CIB2"
"0000329738" "CIB2"
"0000329739" "CIB2"
"0000329740" "CIB2"
"0000329741" "CIB2"
"0000329742" "CIB2"
"0000329743" "CIB2"
"0000329744" "CIB2"
"0000329745" "CIB2"
"0000329746" "CIB2"
"0000329747" "CIB2"
"0000329748" "CIB2"
"0000329749" "CIB2"
"0000329750" "CIB2"
"0000329751" "CIB2"
## 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 = 78
"{{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}}"
"0000053131" "3" "70" "15" "78403509" "78403509" "subst" "2.43778E-5" "00784" "CIB2_000001" "g.78403509G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "?" "" "0" "" "" "g.78111167G>A" "" "likely pathogenic (recessive)" ""
"0000053132" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00784" "CIB2_000005" "g.78401651A>G" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
"0000053133" "1" "90" "15" "78403608" "78403608" "subst" "5.7006E-5" "00784" "CIB2_000006" "g.78403608G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.78111266G>A" "" "pathogenic" ""
"0000055928" "3" "90" "15" "78403513" "78403513" "subst" "4.06246E-6" "00006" "CIB2_000002" "g.78403513C>G" "" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}, {OMIM605564:0004}" "" "" "not in 676 control chromosomes" "Germline" "yes" "rs145415848" "0" "" "" "g.78111171C>G" "" "pathogenic" ""
"0000055929" "3" "90" "15" "78398255" "78398255" "subst" "0" "00006" "CIB2_000003" "g.78398255A>G" "" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}, {OMIM605564:0003}" "" "" "not in 724 control chromosomes" "Germline" "yes" "rs397515412" "0" "" "" "g.78105913A>G" "" "pathogenic" ""
"0000055930" "3" "90" "15" "78401626" "78401626" "subst" "0" "00006" "CIB2_000004" "g.78401626G>C" "" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}, {OMIM605564:0002}" "" "" "" "Germline" "yes" "rs370965183" "0" "" "" "g.78109284G>C" "" "pathogenic" ""
"0000055931" "1" "90" "15" "78401626" "78401626" "subst" "0" "00006" "CIB2_000004" "g.78401626G>C" "5/1068 chromosomes" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}, {OMIM605564:0002}" "" "" "" "Germline" "-" "rs370965183" "0" "" "" "g.78109284G>C" "" "pathogenic" ""
"0000055932" "1" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "1/1068 chromosomes" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}" "" "" "" "Germline" "-" "" "0" "" "" "g.78109309A>G" "" "pathogenic" ""
"0000055933" "3" "90" "15" "78401626" "78401626" "subst" "0" "00006" "CIB2_000004" "g.78401626G>C" "" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}, {OMIM605564:0002}" "" "" "" "Germline" "yes" "rs370965183" "0" "" "" "g.78109284G>C" "" "pathogenic" ""
"0000055934" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}, {OMIM605564:0001}" "" "" "" "Germline" "yes" "rs397515411" "0" "" "" "g.78109309A>G" "" "pathogenic" ""
"0000055935" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "" "{PMID:Riazuddin 2012:23023331}, {DOI:Riazuddin 2012:10.1038/ng.2426}, {OMIM605564:0001}" "" "" "" "Germline" "yes" "rs397515411" "0" "" "" "g.78109309A>G" "" "pathogenic" ""
"0000128974" "21" "70" "15" "78403608" "78403608" "subst" "5.7006E-5" "01740" "CIB2_000006" "g.78403608G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.78111266G>A" "" "likely pathogenic" ""
"0000128975" "10" "70" "15" "78403509" "78403509" "subst" "2.43778E-5" "01740" "CIB2_000001" "g.78403509G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.78111167G>A" "" "likely pathogenic (recessive)" ""
"0000256329" "0" "50" "15" "78403538" "78403538" "subst" "8.12295E-6" "01943" "CIB2_000009" "g.78403538A>G" "" "" "" "CIB2(NM_006383.3):c.167T>C (p.M56T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78111196A>G" "" "VUS" ""
"0000264659" "0" "50" "15" "78401685" "78401685" "subst" "7.71574E-5" "02330" "CIB2_000007" "g.78401685C>T" "" "" "" "CIB2(NM_001301224.2):c.253G>A (p.E85K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78109343C>T" "" "VUS" ""
"0000264660" "0" "10" "15" "78403621" "78403621" "subst" "0.00053011" "02330" "CIB2_000011" "g.78403621T>C" "" "" "" "CIB2(NM_001301224.2):c.87-1770A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78111279T>C" "" "benign" ""
"0000273564" "0" "50" "15" "78403581" "78403581" "subst" "2.03176E-5" "01943" "CIB2_000010" "g.78403581C>T" "" "" "" "CIB2(NM_006383.3):c.124G>A (p.V42I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78111239C>T" "" "VUS" ""
"0000273565" "0" "30" "15" "78401692" "78401692" "subst" "0.000227406" "01943" "CIB2_000008" "g.78401692C>T" "" "" "" "CIB2(NM_006383.3):c.231G>A (p.A77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78109350C>T" "" "likely benign" ""
"0000273566" "0" "90" "15" "78403608" "78403608" "subst" "5.7006E-5" "01943" "CIB2_000006" "g.78403608G>A" "" "" "" "CIB2(NM_006383.3):c.97C>T (p.R33*), CIB2(NM_006383.4):c.97C>T (p.R33*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78111266G>A" "" "pathogenic" ""
"0000338769" "0" "30" "15" "78423771" "78423771" "subst" "0" "02327" "CIB2_000013" "g.78423771G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78131429G>A" "" "likely benign" ""
"0000342650" "0" "90" "15" "78403608" "78403608" "subst" "5.7006E-5" "02327" "CIB2_000006" "g.78403608G>A" "" "" "" "CIB2(NM_006383.3):c.97C>T (p.R33*), CIB2(NM_006383.4):c.97C>T (p.R33*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78111266G>A" "" "pathogenic" ""
"0000345969" "0" "50" "15" "78423554" "78423554" "subst" "0" "02327" "CIB2_000012" "g.78423554C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78131212C>T" "" "VUS" ""
"0000555559" "0" "30" "15" "78393352" "78393352" "subst" "0.00218487" "01804" "SH2D7_000001" "g.78393352C>T" "" "" "" "SH2D7(NM_001101404.1):c.757C>T (p.(Arg253Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78101010C>T" "" "likely benign" ""
"0000555560" "0" "30" "15" "78393434" "78393434" "subst" "0.00363399" "01804" "SH2D7_000002" "g.78393434C>T" "" "" "" "SH2D7(NM_001101404.1):c.839C>T (p.(Ala280Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78101092C>T" "" "likely benign" ""
"0000555561" "0" "50" "15" "78398100" "78398100" "subst" "0.00078389" "01943" "SH2D7_000003" "g.78398100T>G" "" "" "" "CIB2(NM_006383.3):c.523A>C (p.K175Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78105758T>G" "" "VUS" ""
"0000555562" "0" "50" "15" "78398100" "78398100" "subst" "0.00078389" "02327" "SH2D7_000003" "g.78398100T>G" "" "" "" "CIB2(NM_006383.3):c.523A>C (p.K175Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78105758T>G" "" "VUS" ""
"0000555563" "0" "30" "15" "78398161" "78398161" "subst" "0.00222536" "01943" "SH2D7_000004" "g.78398161C>T" "" "" "" "CIB2(NM_001301224.1):c.477G>A (p.E159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78105819C>T" "" "likely benign" ""
"0000555564" "0" "90" "15" "78401614" "78401623" "del" "5.69036E-5" "02327" "CIB2_000014" "g.78401614_78401623del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78109272_78109281del" "" "pathogenic" ""
"0000555565" "0" "30" "15" "78401797" "78401797" "subst" "0" "02330" "CIB2_000015" "g.78401797A>G" "" "" "" "CIB2(NM_001301224.2):c.141T>C (p.A47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78109455A>G" "" "likely benign" ""
"0000555566" "0" "30" "15" "78416079" "78416079" "subst" "1.21824E-5" "02330" "CIB2_000016" "g.78416079G>A" "" "" "" "CIB2(NM_001301224.2):c.54C>T (p.D18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78123737G>A" "" "likely benign" ""
"0000615544" "0" "50" "15" "78393265" "78393265" "subst" "3.26749E-5" "01804" "SH2D7_000005" "g.78393265C>A" "" "" "" "SH2D7(NM_001101404.1):c.670C>A (p.(Pro224Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78100923C>A" "" "VUS" ""
"0000615545" "0" "50" "15" "78398175" "78398175" "subst" "0.0019979" "01943" "SH2D7_000006" "g.78398175C>T" "" "" "" "CIB2(NM_001301224.1):c.463G>A (p.D155N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78105833C>T" "" "VUS" ""
"0000641993" "3" "90" "15" "78401579" "78401579" "subst" "0" "00004" "CIB2_000017" "g.78401579T>C" "" "{PMID:Booth 2018:29112224}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78109237T>C" "" "pathogenic (recessive)" ""
"0000641994" "2" "90" "15" "78401614" "78401623" "del" "5.69036E-5" "00004" "CIB2_000014" "g.78401614_78401623del" "" "{PMID:Booth 2018:29112224}" "" "" "" "Germline" "" "" "0" "" "" "g.78109272_78109281del" "" "pathogenic (recessive)" ""
"0000642000" "1" "99" "15" "78423524" "78423524" "subst" "0" "00004" "CIB2_000019" "g.78423524G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.78131182G>A" "" "pathogenic" ""
"0000657667" "0" "50" "15" "78398150" "78398150" "subst" "0.000109645" "01943" "SH2D7_000007" "g.78398150A>C" "" "" "" "CIB2(NM_001301224.1):c.488T>G (p.L163W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78105808A>C" "" "VUS" ""
"0000685703" "1" "50" "15" "78401612" "78401612" "subst" "0.000402396" "00004" "CIB2_000020" "g.78401612C>T" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.78109270C>T" "" "VUS" ""
"0000714113" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000714117" "1" "90" "15" "78403509" "78403509" "subst" "2.43778E-5" "00006" "CIB2_000001" "g.78403509G>A" "" "{PMID:Booth 2018:29112224}" "" "" "" "Germline" "" "" "0" "" "" "g.78111167G>A" "" "pathogenic (recessive)" ""
"0000714118" "1" "70" "15" "78401700" "78401700" "subst" "4.06101E-6" "00006" "CIB2_000021" "g.78401700C>T" "" "{PMID:Booth 2015:26416264}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000714119" "3" "70" "15" "78401700" "78401700" "subst" "4.06101E-6" "00006" "CIB2_000021" "g.78401700C>T" "" "{PMID:Booth 2015:26416264}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000714120" "3" "90" "15" "78413408" "78416519" "del" "0" "00000" "CIB2_000025" "g.78413408_78416519del" "" "{PMID:Booth 2018:29112224}" "" "52_86del" "" "Germline" "yes" "" "0" "" "" "g.78121066_78124177del" "" "pathogenic (recessive)" ""
"0000714121" "3" "90" "15" "78401593" "78401593" "subst" "0" "00000" "CIB2_000023" "g.78401593A>T" "" "{PMID:Booth 2018:29112224}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78109251A>T" "" "pathogenic (recessive)" ""
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"0000714127" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00000" "CIB2_000005" "g.78401651A>G" "" "{PMID:Shaikh 2017:29086887}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
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"0000714132" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00000" "CIB2_000005" "g.78401651A>G" "" "{PMID:Shaikh 2017:29086887}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
"0000714133" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00000" "CIB2_000005" "g.78401651A>G" "" "{PMID:Shaikh 2017:29086887}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
"0000714134" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00000" "CIB2_000005" "g.78401651A>G" "" "{PMID:Shaikh 2017:29086887}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
"0000806934" "0" "90" "15" "78403608" "78403608" "subst" "5.7006E-5" "02329" "CIB2_000006" "g.78403608G>A" "" "" "" "CIB2(NM_006383.3):c.97C>T (p.R33*), CIB2(NM_006383.4):c.97C>T (p.R33*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000817087" "21" "90" "15" "78401614" "78401623" "del" "5.69036E-5" "02416" "CIB2_000014" "g.78401614_78401623del" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "rs765741202" "0" "" "" "" "" "pathogenic" "ACMG"
"0000854190" "0" "50" "15" "78398107" "78398107" "subst" "8.12262E-6" "01943" "SH2D7_000008" "g.78398107C>G" "" "" "" "CIB2(NM_001301224.1):c.531G>C (p.M177I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863972" "0" "30" "15" "78403513" "78403513" "subst" "0.000138124" "01943" "CIB2_000026" "g.78403513C>T" "" "" "" "CIB2(NM_006383.3):c.192G>A (p.E64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000943979" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
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"0000943982" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
"0000943983" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
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"0000943987" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
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"0000943990" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
"0000943991" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
"0000943992" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
"0000943993" "3" "90" "15" "78401651" "78401651" "subst" "2.84269E-5" "00006" "CIB2_000005" "g.78401651A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.78109309A>G" "" "pathogenic (recessive)" ""
"0000943994" "3" "90" "15" "78401626" "78401626" "subst" "0" "00006" "CIB2_000004" "g.78401626G>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.78109284G>C" "" "pathogenic (recessive)" ""
"0000967965" "0" "50" "15" "78401700" "78401700" "subst" "4.06101E-6" "02327" "CIB2_000021" "g.78401700C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981431" "0" "50" "15" "78401634" "78401634" "subst" "2.03085E-5" "01804" "CIB2_000027" "g.78401634C>T" "" "" "" "CIB2(NM_006383.4):c.289G>A (p.(Val97Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 CIB2
## Count = 78
"{{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}}"
"0000053131" "00024187" "70" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Trp)" "3"
"0000053132" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" "4"
"0000053133" "00024187" "90" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33*)" "3"
"0000055928" "00024187" "90" "192" "0" "192" "0" "c.192G>C" "r.(?)" "p.(Glu64Asp)" ""
"0000055929" "00024187" "90" "368" "0" "368" "0" "c.368T>C" "r.(?)" "p.(Ile123Thr)" ""
"0000055930" "00024187" "90" "297" "0" "297" "0" "c.297C>G" "r.(?)" "p.(Cys99Trp)" ""
"0000055931" "00024187" "90" "297" "0" "297" "0" "c.297C>G" "r.(?)" "p.(Cys99Trp)" ""
"0000055932" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000055933" "00024187" "90" "297" "0" "297" "0" "c.297C>G" "r.(?)" "p.(Cys99Trp)" ""
"0000055934" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" "4"
"0000055935" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" "4"
"0000128974" "00024187" "70" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33*)" ""
"0000128975" "00024187" "70" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Trp)" ""
"0000256329" "00024187" "50" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Met56Thr)" ""
"0000264659" "00024187" "50" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" ""
"0000264660" "00024187" "10" "87" "-3" "87" "-3" "c.87-3A>G" "r.spl?" "p.?" ""
"0000273564" "00024187" "50" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Val42Ile)" ""
"0000273565" "00024187" "30" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Ala77=)" ""
"0000273566" "00024187" "90" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Ter)" ""
"0000338769" "00024187" "30" "-214" "0" "-214" "0" "c.-214C>T" "r.(?)" "p.(=)" ""
"0000342650" "00024187" "90" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Ter)" ""
"0000345969" "00024187" "50" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Gly2Arg)" ""
"0000555559" "00024187" "30" "4865" "0" "4865" "0" "c.*4301G>A" "r.(=)" "p.(=)" ""
"0000555560" "00024187" "30" "4783" "0" "4783" "0" "c.*4219G>A" "r.(=)" "p.(=)" ""
"0000555561" "00024187" "50" "523" "0" "523" "0" "c.523A>C" "r.(?)" "p.(Lys175Gln)" ""
"0000555562" "00024187" "50" "523" "0" "523" "0" "c.523A>C" "r.(?)" "p.(Lys175Gln)" ""
"0000555563" "00024187" "30" "462" "0" "462" "0" "c.462G>A" "r.(?)" "p.(Glu154=)" ""
"0000555564" "00024187" "90" "300" "0" "309" "0" "c.300_309del" "r.(?)" "p.(Glu100AspfsTer28)" ""
"0000555565" "00024187" "30" "199" "-73" "199" "-73" "c.199-73T>C" "r.(=)" "p.(=)" ""
"0000555566" "00024187" "30" "54" "0" "54" "0" "c.54C>T" "r.(?)" "p.(Asp18=)" ""
"0000615544" "00024187" "50" "4952" "0" "4952" "0" "c.*4388G>T" "r.(=)" "p.(=)" ""
"0000615545" "00024187" "50" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Asp150Asn)" ""
"0000641993" "00024187" "90" "344" "0" "344" "0" "c.344A>G" "r.(?)" "p.(Tyr115Cys)" "4"
"0000641994" "00024187" "90" "300" "0" "309" "0" "c.300_309del" "r.(?)" "p.(Cys100*)" "4"
"0000642000" "00024187" "99" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Gln12*)" "1"
"0000657667" "00024187" "50" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Leu158Trp)" ""
"0000685703" "00024187" "50" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Arg104Gln)" ""
"0000714113" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000714117" "00024187" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Trp)" "3"
"0000714118" "00024187" "70" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Val75Met)" ""
"0000714119" "00024187" "70" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Val75Met)" ""
"0000714120" "00024187" "90" "52" "-438" "86" "2639" "c.52-438_86+2639del" "r.spl" "p.(Asp18Alafs*7)" ""
"0000714121" "00024187" "90" "330" "0" "330" "0" "c.330T>A" "r.(?)" "p.(Tyr110*)" ""
"0000714122" "00024187" "90" "198" "1" "198" "1" "c.198+1G>A" "r.spl" "p.?" ""
"0000714123" "00024187" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Val75Met)" ""
"0000714124" "00024187" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Trp)" ""
"0000714125" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000714126" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000714127" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000714128" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000714129" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000714130" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000714131" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000714132" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000714133" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000714134" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000806934" "00024187" "90" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Ter)" ""
"0000817087" "00024187" "90" "300" "0" "309" "0" "c.300_309delGTCGGCTCCC" "r.(?)" "p.(Glu100AspfsTer28)" ""
"0000854190" "00024187" "50" "516" "0" "516" "0" "c.516G>C" "r.(?)" "p.(Met172Ile)" ""
"0000863972" "00024187" "30" "192" "0" "192" "0" "c.192G>A" "r.(?)" "p.(Glu64=)" ""
"0000943979" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943980" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943981" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943982" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943983" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943984" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943985" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943986" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943987" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943988" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943989" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943990" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943991" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943992" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943993" "00024187" "90" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Phe91Ser)" ""
"0000943994" "00024187" "90" "297" "0" "297" "0" "c.297C>G" "r.(?)" "p.(Cys99Trp)" ""
"0000967965" "00024187" "50" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Val75Met)" ""
"0000981431" "00024187" "50" "289" "0" "289" "0" "c.289G>A" "r.(?)" "p.(Val97Met)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 53
"{{screeningid}}" "{{variantid}}"
"0000029722" "0000053131"
"0000029725" "0000053132"
"0000029730" "0000053133"
"0000029836" "0000055928"
"0000029837" "0000055929"
"0000029838" "0000055930"
"0000029839" "0000055931"
"0000029840" "0000055932"
"0000029841" "0000055933"
"0000029842" "0000055934"
"0000029843" "0000055935"
"0000080098" "0000128974"
"0000080098" "0000128975"
"0000163900" "0000714118"
"0000163901" "0000714119"
"0000286251" "0000641993"
"0000286252" "0000641994"
"0000286252" "0000714117"
"0000286258" "0000642000"
"0000310755" "0000685703"
"0000329735" "0000714113"
"0000329737" "0000714120"
"0000329738" "0000714121"
"0000329739" "0000714122"
"0000329740" "0000714123"
"0000329741" "0000714124"
"0000329742" "0000714125"
"0000329743" "0000714126"
"0000329744" "0000714127"
"0000329745" "0000714128"
"0000329746" "0000714129"
"0000329747" "0000714130"
"0000329748" "0000714131"
"0000329749" "0000714132"
"0000329750" "0000714133"
"0000329751" "0000714134"
"0000388477" "0000817087"
"0000442652" "0000943979"
"0000442653" "0000943980"
"0000442654" "0000943981"
"0000442655" "0000943982"
"0000442656" "0000943983"
"0000442657" "0000943984"
"0000442658" "0000943985"
"0000442659" "0000943986"
"0000442660" "0000943987"
"0000442661" "0000943988"
"0000442662" "0000943989"
"0000442663" "0000943990"
"0000442664" "0000943991"
"0000442665" "0000943992"
"0000442666" "0000943993"
"0000442667" "0000943994"