### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GJB6) # 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}}" "GJB6" "gap junction protein, beta 6, 30kDa" "13" "q12" "no" "NG_008323.1" "UD_132084546547" "" "http://www.LOVD.nl/GJB6" "Connexin-deafness homepage \r\nGJB6 (connexin 30) and hearing impairment " "1" "4288" "10804" "604418" "1" "1" "1" "1" "alias connexin 30 (cx30), EDH, HED" "" "g" "http://databases.lovd.nl/shared/refseq/GJB6_codingDNA.html" "1" "" " The Connexin-deafness databases

" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-06-06 12:56:55" "00000" "2026-01-20 18:57:21" ## 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}}" "00024008" "GJB6" "transcript variant 3" "004" "NM_006783.4" "" "NP_006774.2" "" "" "" "-553" "1519" "786" "20805372" "20796101" "00006" "2015-01-18 11:28:57" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "01299" "ECTD2" "dysplasia, ectodermal, type 2 (ECTD-2, Clouston syndrome)" "AD" "129500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01404" "-" "keratoderma palmoplantar, deafness" "AD" "148350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01745" "DFNB1A" "deafness, autosomal recessive, type 1A (DFNB-1A, incl. di-genic)" "AR;DD" "220290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02371" "DFNA3A" "deafness, autosomal dominant, type 3A (DFNA-3A)" "AD" "601544" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03169" "DFNA3B" "deafness, autosomal dominant, type 3b (DFNA-3B)" "AD" "612643" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03171" "DFNB1B" "deafness, autosomal recessive, type 1b (DFNB-1B)" "AR" "612645" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04284" "-" "dysplasia, ectodermal, hidrotic (Christianson-Fourie type)" "" "601375" "" "" "" "00008" "2015-06-16 13:45:06" "00006" "2015-06-17 13:04:03" "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" "" "" "05764" "IFAP" "ichthyosis, follicular, with atrichia and photophobia syndrome" "" "" "" "" "" "00006" "2020-06-08 19:40:11" "00006" "2025-09-22 12:54:03" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "GJB6" "01299" "GJB6" "01745" "GJB6" "03169" "GJB6" "03171" "GJB6" "04284" ## Individuals ## Do not remove or alter this header ## ## Count = 56 "{{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}}" "00017817" "" "" "" "1" "" "00726" "{PMID:Marakhonov 2012:24052723}" "in-depth analysis of the pedigree of the proband’s family revealed that at least one person in each generation was affected. All other affected relatives were dead, so we were unable to perform medical and molecular genetic analyses." "F" "no" "(Russian Federation)" "" "0" "" "" "" "" "00029013" "" "" "" "23" "" "00006" "{PMID:Lamartine 2000:11017065}" "5-generation family, 23 affecteds (12F, 11M)" "" "" "France" "" "0" "" "" "" "" "00029014" "" "" "" "3" "" "00006" "{PMID:Lamartine 2000:11017065}" "2-generation family, 3 affecteds, father son and daugther" "" "" "France" "" "0" "" "" "" "" "00029015" "" "" "" "1" "" "00006" "{PMID:Lamartine 2000:11017065}" "" "" "" "" "" "0" "" "" "African" "" "00029016" "" "" "" "1" "" "00006" "{PMID:Lamartine 2000:11017065}" "" "" "" "Spain" "" "0" "" "" "" "" "00029017" "" "" "" "1" "" "00006" "{PMID:Lamartine 2000:11017065}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "" "00029018" "" "" "" "1" "" "00006" "{PMID:Lamartine 2000:11017065}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "" "00029019" "" "" "" "1" "" "00006" "{PMID:Lamartine 2000:11017065}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "" "00029020" "" "" "" "1" "" "00006" "{PMID:Lamartine 2000:11017065}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Scottish, Irish" "" "00029021" "" "" "" "1" "" "00006" "{PMID:Lamartine 2000:11017065}" "" "" "" "France" "" "0" "" "" "" "" "00029022" "" "" "" "1" "" "00726" "{PMID:Lamartine 2000:11017065}" "3-generation family, 5 affecteds (3F, 2M)" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Wales" "" "00029023" "" "" "" "1" "" "00726" "{PMID:Lamartine 2000:11017065}" "" "" "" "India" "" "0" "" "" "" "" "00029024" "" "" "" "1" "" "00726" "{PMID:Lamartine 2000:11017065}" "" "" "" "Malaysia" "" "0" "" "" "" "" "00043730" "" "" "" "1" "" "01332" "{PMID:Grifa 1999:10471490}" "" "" "" "Italy" "" "0" "" "" "" "" "00043731" "" "" "" "1" "" "01332" "Pandya, PC" "" "" "" "" "" "0" "" "" "" "" "00043736" "" "" "" "1" "" "01332" "{PMID:Kelley et al, 1999:10610709}" "" "" "" "" "" "0" "" "" "" "" "00043737" "" "" "" "1" "" "01332" "{PMID:Kelley et al, 1999:10610709}" "" "" "" "" "" "0" "" "" "" "" "00043738" "" "" "" "1" "" "01332" "{PMID:Gabriel et al, 2001:11385713}" "" "" "" "" "" "0" "" "" "" "" "00043739" "" "" "" "1" "" "01332" "{PMID:Kelley et al, 1999:10610709}" "" "" "" "" "" "0" "" "" "" "" "00043740" "" "" "" "1" "" "01332" "{PMID:Kelley et al, 1999:10610709}" "" "" "" "" "" "0" "" "" "" "" "00043741" "" "" "" "1" "" "01332" "{PMID:Kelley et al, 1999:10610709}" "" "" "" "" "" "0" "" "" "" "" "00043744" "" "" "" "1" "" "00008" "{PMID:Yang 2007:17259707}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00043746" "" "" "" "1" "" "00008" "{PMID:Baris 2008:18717672}" "affected mother and son" "F" "no" "Israel" "" "0" "" "" "" "" "00043747" "" "" "" "1" "" "00008" "{PMID:Nemoto-Hasebe 2009:19416251}" "" "F" "" "Japan" "" "0" "" "" "" "" "00043748" "" "" "" "1" "" "00008" "{PMID:Smith 2002:11874494}" "" "" "" "" "" "0" "" "" "" "" "00043749" "" "" "" "1" "" "00008" "{PMID16950989:Gardner 2006}" "" "" "" "" "" "0" "" "" "" "" "00043755" "" "" "" "2" "" "00006" "{PMID:del Castillo 2002:11807148}, {DOI:del Castillo 2002:10.1056/NEJMoa012052}" "2-generation family, affected mother and father (parents of daugthers II1/2)" "" "no" "Spain" "" "0" "" "" "" "" "00043756" "" "" "" "1" "" "00006" "{PMID:del Castillo 2002:11807148}, {DOI:del Castillo 2002:10.1056/NEJMoa012052}" "2-generation family, affected sisters (parents I1/2)" "F" "no" "Spain" "" "0" "" "" "" "" "00043757" "" "" "" "10" "" "00006" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}" "ARNSHI cases from Spain" "?" "no" "Spain" "" "0" "" "" "" "" "00043762" "" "" "" "3" "" "00006" "{PMID:Lerer 2001:11668644}, {DOI:Lerer 2001:10.1002/humu.1222}" "2-generation family, affected daugther (II4), unaffected heterozygous carrier mother (father I1, brother II3)" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00043763" "" "" "00043762" "1" "" "00006" "{PMID:Lerer 2001:11668644}, {DOI:Lerer 2001:10.1002/humu.1222}" "2-generation family, affected son (II4), unaffected heterozygous carrier mother (father I1, sister II4)" "M" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00059145" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00117237" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1584" "00117245" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1636" "00117264" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1778" "00181210" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Argentina" ">30y" "0" "" "" "" "24158611-Pat" "00181511" "" "" "" "1" "" "00006" "{PMID:del Castillo 2002:11807148}" "" "" "" "Spain" "" "0" "" "" "" "11807148-PatSpa" "00181512" "" "" "" "19" "" "00006" "{PMID:del Castillo 2002:11807148}" "" "" "" "Spain" "" "0" "" "" "" "11807148-PatSpa" "00181513" "" "" "" "2" "" "00006" "{PMID:del Castillo 2002:11807148}" "" "" "" "Cuba" "" "0" "" "" "" "11807148-PatCub" "00181514" "" "" "" "1" "" "00006" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}" "ARNSHI cases" "" "" "Spain" "" "0" "" "" "" "" "00181515" "" "" "" "1" "" "00006" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}" "ARNSHI cases" "" "" "Spain" "" "0" "" "" "" "" "00181516" "" "" "" "1" "" "00006" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}" "ARNSHI cases" "" "" "Italy" "" "0" "" "" "" "" "00181517" "" "" "" "4" "" "00006" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}" "ARNSHI cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00181518" "" "" "" "1" "" "00006" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}" "ARNSHI cases" "" "" "Brazil" "" "0" "" "" "" "" "00183001" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183002" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183003" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183004" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183005" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183006" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183007" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183008" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183009" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183018" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183028" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00466846" "" "" "" "1" "" "00006" "{PMID:Caengprasath 2023:37923657}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Thailand" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 56 "{{individualid}}" "{{diseaseid}}" "00017817" "01299" "00029013" "01299" "00029014" "01299" "00029015" "01299" "00029016" "01299" "00029017" "01299" "00029018" "01299" "00029019" "01299" "00029020" "01299" "00029021" "01299" "00029022" "01299" "00029023" "01299" "00029024" "01299" "00043730" "03169" "00043731" "00198" "00043736" "00198" "00043737" "00198" "00043738" "00198" "00043739" "00198" "00043740" "00198" "00043741" "00198" "00043744" "00350" "00043746" "01299" "00043747" "01404" "00043748" "01299" "00043749" "02371" "00043755" "01745" "00043756" "03171" "00043757" "03171" "00043762" "00531" "00043763" "00531" "00059145" "00531" "00117237" "05103" "00117245" "05103" "00117264" "05103" "00181210" "05400" "00181511" "05103" "00181512" "05103" "00181513" "05103" "00181514" "03171" "00181515" "03171" "00181516" "03171" "00181517" "03171" "00181518" "03171" "00183001" "05103" "00183002" "05103" "00183003" "05103" "00183004" "05103" "00183005" "05103" "00183006" "05103" "00183007" "05103" "00183008" "05103" "00183009" "05103" "00183018" "05103" "00183028" "05103" "00466846" "05764" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00350, 00531, 01299, 01404, 01745, 02371, 03169, 03171, 04284, 05103, 05400, 05764 ## Count = 47 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000025034" "01299" "00017817" "00726" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025035" "01299" "00029013" "00006" "Familial, autosomal dominant" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025036" "01299" "00029014" "00006" "Familial, autosomal dominant" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025037" "01299" "00029015" "00006" "Familial" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025038" "01299" "00029016" "00006" "Familial" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025039" "01299" "00029017" "00006" "Familial" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025040" "01299" "00029018" "00006" "Familial" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025041" "01299" "00029019" "00006" "Familial" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025042" "01299" "00029020" "00006" "Familial" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025043" "01299" "00029021" "00006" "Familial" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025044" "01299" "00029022" "00726" "Familial, autosomal dominant" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025045" "01299" "00029023" "00726" "Familial" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000025046" "01299" "00029024" "00726" "Familial" "" "hidrotic ectodermal dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000034021" "03169" "00043730" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000034022" "01404" "00043747" "00006" "Isolated (sporadic)" "" "see paper; palmoplantar keratoderma with pseudoainhum, knuckle pads, hearing loss, ..." "" "" "" "" "" "" "" "" "" "" "" "0000034023" "01299" "00043746" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000034024" "01299" "00043748" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000034025" "00350" "00043744" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034028" "03171" "00043756" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034029" "01745" "00043755" "00006" "Complex" "" "digenic inheritance; severe deafness" "" "" "" "" "" "" "" "" "" "" "" "0000034030" "03171" "00043757" "00006" "Complex" "" "di-geneic inheritance; autosomal recessive non-syndromic hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000034031" "00531" "00043762" "00006" "Complex" "" "di-genic inheritance; non-syndromic hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000034032" "00531" "00043763" "00006" "Complex" "" "di-genic inheritance; non-syndromic hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000092484" "05103" "00117237" "00110" "Familial, autosomal recessive" "03y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092492" "05103" "00117245" "00110" "Isolated (sporadic)" "03y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092511" "05103" "00117264" "00110" "Isolated (sporadic)" "01y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000143379" "05400" "00181210" "02476" "Familial, autosomal recessive" "30y" "" "" "" "postlingual moderate deafness" "" "" "" "" "" "" "moderate hearing loss" "" "0000143703" "05103" "00181511" "00006" "Familial, autosomal recessive" "" "non-syndromic hearing impairment" "" "" "" "" "" "" "" "" "deafness" "" "" "0000143704" "05103" "00181512" "00006" "Familial, autosomal recessive" "" "non-syndromic hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000143705" "05103" "00181513" "00006" "Familial, autosomal recessive" "" "non-syndromic hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000143706" "03171" "00181514" "00006" "Complex" "" "di-geneic inheritance; autosomal recessive non-syndromic hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000143707" "03171" "00181515" "00006" "Complex" "" "di-geneic inheritance; autosomal recessive non-syndromic hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000143708" "03171" "00181516" "00006" "Complex" "" "di-geneic inheritance; autosomal recessive non-syndromic hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000143709" "03171" "00181517" "00006" "Complex" "" "di-geneic inheritance; autosomal recessive non-syndromic hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000143710" "03171" "00181518" "00006" "Complex" "" "di-geneic inheritance; autosomal recessive non-syndromic hearing impairment" "" "" "" "" "" "" "" "" "" "" "" "0000143763" "05103" "00183001" "02476" "Familial, autosomal recessive" "" "deafness (severe)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143764" "05103" "00183002" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143765" "05103" "00183003" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143766" "05103" "00183004" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143767" "05103" "00183005" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143768" "05103" "00183006" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143769" "05103" "00183007" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143770" "05103" "00183008" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143771" "05103" "00183009" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143780" "05103" "00183018" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143790" "05103" "00183028" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000352209" "05764" "00466846" "00006" "Familial, X-linked recessive" "18y" "see paper; ..., birth symmetric papules; infancy hair loss, photophobia, corneal edema, abrasion, conjunctivitis, superficial punctate keratitis; bilateral subepithelial fibrovascular tissue ingrowth cornea; 4y-sparse eyebrows/eyelashes, non-scarring alopecia" "" "" "" "" "" "" "" "" "IFAP1" "IFAP syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 56 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017799" "00017817" "1" "00726" "00726" "2014-07-01 11:05:52" "" "" "SEQ" "DNA" "blood" "" "0000029054" "00029013" "1" "00006" "00006" "2015-01-18 12:15:07" "" "" "SEQ" "DNA" "" "" "0000029055" "00029014" "1" "00006" "00006" "2015-01-18 12:15:07" "" "" "SEQ" "DNA" "" "" "0000029056" "00029015" "1" "00006" "00006" "2015-01-18 12:15:07" "" "" "SEQ" "DNA" "" "" "0000029057" "00029016" "1" "00006" "00006" "2015-01-18 12:15:07" "" "" "SEQ" "DNA" "" "" "0000029058" "00029017" "1" "00006" "00006" "2015-01-18 12:15:07" "" "" "SEQ" "DNA" "" "" "0000029059" "00029018" "1" "00006" "00006" "2015-01-18 12:15:07" "" "" "SEQ" "DNA" "" "" "0000029060" "00029019" "1" "00006" "00006" "2015-01-18 12:15:07" "" "" "SEQ" "DNA" "" "" "0000029061" "00029020" "1" "00006" "00006" "2015-01-18 12:15:07" "" "" "SEQ" "DNA" "" "" "0000029062" "00029021" "1" "00006" "00006" "2015-01-18 12:15:07" "" "" "SEQ" "DNA" "" "" "0000029063" "00029022" "1" "00726" "00726" "2014-07-01 11:05:52" "" "" "SEQ" "DNA" "" "" "0000029064" "00029023" "1" "00726" "00726" "2014-07-01 11:05:52" "" "" "SEQ" "DNA" "" "" "0000029065" "00029024" "1" "00726" "00726" "2014-07-01 11:05:52" "" "" "SEQ" "DNA" "" "" "0000043972" "00043730" "1" "01332" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043973" "00043731" "1" "01332" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043978" "00043736" "1" "01332" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043979" "00043737" "1" "01332" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043980" "00043738" "1" "01332" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043981" "00043739" "1" "01332" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043982" "00043740" "1" "01332" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043983" "00043741" "1" "01332" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043986" "00043744" "1" "00008" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043988" "00043746" "1" "00008" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043989" "00043747" "1" "00008" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043990" "00043748" "1" "00008" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043991" "00043749" "1" "00008" "00008" "2015-06-16 14:04:23" "" "" "?" "DNA" "" "" "0000043997" "00043755" "1" "00006" "00006" "2015-06-18 08:56:23" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000043998" "00043756" "1" "00006" "00006" "2015-06-18 09:13:15" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000043999" "00043757" "1" "00006" "00006" "2015-06-18 09:45:21" "00006" "2015-06-18 16:47:15" "PCR;SEQ;Southern" "DNA" "" "" "0000044006" "00043762" "1" "00006" "00006" "2015-06-19 10:15:41" "" "" "PCR;RT-PCR;SEQ;Southern" "DNA;RNA" "" "" "0000044007" "00043763" "1" "00006" "00006" "2015-06-19 10:43:59" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000059118" "00059145" "1" "01551" "01551" "2016-02-29 10:06:34" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000117704" "00117237" "1" "00110" "00110" "2017-08-16 15:57:25" "" "" "SEQ" "DNA" "" "" "0000117712" "00117245" "1" "00110" "00110" "2017-08-16 16:32:09" "" "" "SEQ" "DNA" "" "" "0000117732" "00117264" "1" "00110" "00110" "2017-08-16 18:17:57" "" "" "SEQ" "DNA" "" "" "0000182168" "00181210" "1" "02476" "02476" "2018-10-04 17:07:00" "" "" "SEQ" "DNA" "blood" "" "0000182472" "00181511" "1" "00006" "00006" "2018-10-09 21:49:34" "" "" "PCR;SEQ" "DNA" "" "" "0000182473" "00181512" "1" "00006" "00006" "2018-10-09 21:58:44" "" "" "PCR;SEQ" "DNA" "" "" "0000182474" "00181513" "1" "00006" "00006" "2018-10-09 22:10:53" "" "" "PCR;SEQ" "DNA" "" "" "0000182475" "00181514" "1" "00006" "00006" "2018-10-09 23:06:41" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000182476" "00181515" "1" "00006" "00006" "2018-10-09 23:06:41" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000182477" "00181516" "1" "00006" "00006" "2018-10-09 23:06:41" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000182478" "00181517" "1" "00006" "00006" "2018-10-09 23:06:41" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000182479" "00181518" "1" "00006" "00006" "2018-10-09 23:06:41" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000183961" "00183001" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183962" "00183002" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183963" "00183003" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183964" "00183004" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183965" "00183005" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183966" "00183006" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183967" "00183007" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183968" "00183008" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183969" "00183009" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183978" "00183018" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183988" "00183028" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000468510" "00466846" "1" "00006" "00006" "2025-09-24 09:24:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 65 "{{screeningid}}" "{{geneid}}" "0000017799" "GJB6" "0000029054" "GJB6" "0000029055" "GJB6" "0000029056" "GJB6" "0000029057" "GJB6" "0000029058" "GJB6" "0000029059" "GJB6" "0000029060" "GJB6" "0000029061" "GJB6" "0000029062" "GJB6" "0000029063" "GJB6" "0000029064" "GJB6" "0000029065" "GJB6" "0000043972" "GJB6" "0000043973" "GJB6" "0000043978" "GJB6" "0000043979" "GJB6" "0000043980" "GJB6" "0000043981" "GJB6" "0000043982" "GJB6" "0000043983" "GJB6" "0000043986" "GJB6" "0000043988" "GJB6" "0000043989" "GJB6" "0000043990" "GJB6" "0000043991" "GJB6" "0000043997" "GJB2" "0000043997" "GJB6" "0000043998" "GJB2" "0000043998" "GJB6" "0000043999" "CRYL1" "0000043999" "GJB2" "0000043999" "GJB6" "0000044006" "GJB2" "0000044006" "GJB6" "0000044007" "GJB2" "0000044007" "GJB6" "0000059118" "GJB6" "0000117704" "GJB2" "0000117704" "GJB6" "0000117712" "GJB2" "0000117712" "GJB6" "0000117732" "GJB6" "0000182168" "GJB2" "0000182472" "GJB6" "0000182473" "GJB2" "0000182473" "GJB6" "0000182474" "GJB2" "0000182474" "GJB6" "0000182475" "GJB6" "0000182476" "GJB6" "0000182477" "GJB6" "0000182478" "GJB6" "0000182479" "GJB6" "0000183961" "GJB2" "0000183962" "GJB2" "0000183963" "GJB2" "0000183964" "GJB2" "0000183965" "GJB2" "0000183966" "GJB2" "0000183967" "GJB2" "0000183968" "GJB2" "0000183969" "GJB2" "0000183978" "GJB2" "0000183988" "GJB2" ## 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 = 91 "{{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}}" "0000037967" "20" "95" "13" "20797357" "20797357" "subst" "0" "00726" "GJB6_000001" "g.20797357G>A" "" "{PMID:Marakhonov 2012:24052723}, {CV:SCV000026065}" "" "" "" "Germline" "yes" "rs28937872" "0" "" "" "g.20223218G>A" "" "pathogenic" "" "0000052405" "1" "90" "13" "20797589" "20797589" "subst" "4.07412E-6" "00006" "GJB6_000002" "g.20797589C>T" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0002}" "" "" "" "Germline" "yes" "rs104894415" "0" "" "" "g.20223450C>T" "" "pathogenic" "" "0000052406" "1" "90" "13" "20797589" "20797589" "subst" "4.07412E-6" "00006" "GJB6_000002" "g.20797589C>T" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0002}" "" "" "" "Germline" "yes" "rs104894415" "0" "" "" "g.20223450C>T" "" "pathogenic" "" "0000052407" "1" "90" "13" "20797589" "20797589" "subst" "4.07412E-6" "00006" "GJB6_000002" "g.20797589C>T" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0002}" "" "" "" "Germline" "yes" "rs104894415" "0" "" "" "g.20223450C>T" "" "pathogenic" "" "0000052408" "1" "90" "13" "20797589" "20797589" "subst" "4.07412E-6" "00006" "GJB6_000002" "g.20797589C>T" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0002}" "" "" "" "Germline" "yes" "rs104894415" "0" "" "" "g.20223450C>T" "" "pathogenic" "" "0000052409" "1" "90" "13" "20797589" "20797589" "subst" "4.07412E-6" "00006" "GJB6_000002" "g.20797589C>T" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0002}" "" "" "" "Germline" "yes" "rs104894415" "0" "" "" "g.20223450C>T" "" "pathogenic" "" "0000052410" "1" "90" "13" "20797589" "20797589" "subst" "4.07412E-6" "00006" "GJB6_000002" "g.20797589C>T" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0002}" "" "" "" "Germline" "yes" "rs104894415" "0" "" "" "g.20223450C>T" "" "pathogenic" "" "0000052411" "1" "90" "13" "20797589" "20797589" "subst" "4.07412E-6" "00006" "GJB6_000002" "g.20797589C>T" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0002}" "" "" "" "Germline" "yes" "rs104894415" "0" "" "" "g.20223450C>T" "" "pathogenic" "" "0000052412" "1" "90" "13" "20797589" "20797589" "subst" "4.07412E-6" "00006" "GJB6_000002" "g.20797589C>T" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0002}" "" "" "" "Germline" "yes" "rs104894415" "0" "" "" "g.20223450C>T" "" "pathogenic" "" "0000052413" "1" "90" "13" "20797589" "20797589" "subst" "4.07412E-6" "00006" "GJB6_000002" "g.20797589C>T" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0002}" "" "" "" "Germline" "yes" "rs104894415" "0" "" "" "g.20223450C>T" "" "pathogenic" "" "0000052414" "1" "90" "13" "20797357" "20797357" "subst" "0" "00726" "GJB6_000001" "g.20797357G>A" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0003}" "" "" "" "Germline" "yes" "rs28937872" "0" "" "" "g.20223218G>A" "" "pathogenic" "" "0000052415" "1" "90" "13" "20797357" "20797357" "subst" "0" "00726" "GJB6_000001" "g.20797357G>A" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0003}" "" "" "" "Germline" "yes" "rs28937872" "0" "" "" "g.20223218G>A" "" "pathogenic" "" "0000052416" "1" "90" "13" "20797357" "20797357" "subst" "0" "00726" "GJB6_000001" "g.20797357G>A" "" "{PMID:Lamartine 2000:11017065}, {OMIM604418:0003}" "" "" "" "Germline" "yes" "rs28937872" "0" "" "" "g.20223218G>A" "" "pathogenic" "" "0000071757" "1" "90" "13" "20797606" "20797606" "subst" "2.0435E-5" "01332" "GJB6_000003" "g.20797606G>A" "" "{PMID:Grifa 1999:10471490}, {OMIM604418:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20223467G>A" "" "pathogenic" "" "0000071758" "1" "99" "13" "20797559" "20797559" "del" "0" "01332" "GJB6_000010" "g.20797559del" "" "Pandya, PC" "" "" "" "Unknown" "" "" "0" "" "" "g.20223420del" "" "pathogenic" "" "0000071763" "1" "11" "13" "20797503" "20797503" "subst" "2.43637E-5" "01332" "GJB6_000004" "g.20797503A>G" "" "{PMID:Kelley 1999:10610709}" "" "A39A" "" "Unknown" "" "" "0" "" "" "g.20223364A>G" "" "benign" "" "0000071764" "1" "11" "13" "20797446" "20797446" "subst" "4.06138E-6" "01332" "GJB6_000005" "g.20797446C>T" "" "{PMID:Kelley 1999:10610709}" "" "" "" "Unknown" "" "" "0" "" "" "g.20223307C>T" "" "benign" "" "0000071765" "1" "11" "13" "20797224" "20797224" "subst" "0.000162464" "01332" "GJB6_000006" "g.20797224C>T" "" "{PMID:Gabriel 2001:11385713}" "" "" "" "Unknown" "" "" "0" "" "" "g.20223085C>T" "" "benign" "" "0000071766" "1" "31" "13" "20797205" "20797205" "subst" "0" "01332" "GJB6_000009" "g.20797205T>C" "" "{PMID:Kelley 1999:10610709}" "" "" "" "Unknown" "" "" "0" "" "" "g.20223066T>C" "" "likely benign" "" "0000071767" "1" "11" "13" "20797131" "20797131" "subst" "0.00323644" "01332" "GJB6_000007" "g.20797131C>T" "" "{PMID:Kelley 1999:10610709}" "" "L163L" "" "Unknown" "no" "rs35002004" "0" "" "" "g.20222992C>T" "" "benign" "" "0000071768" "1" "31" "13" "20797025" "20797025" "subst" "0.00458626" "01332" "GJB6_000008" "g.20797025A>T" "" "{PMID:Kelley 1999:10610709}" "" "" "" "Unknown" "" "" "0" "" "" "g.20222886A>T" "" "likely benign" "" "0000071771" "1" "70" "13" "20797501" "20797501" "subst" "5.68482E-5" "00008" "GJB6_000014" "g.20797501G>A" "1/260 cases" "{PMID:Yang 2007:17259707}" "" "" "" "Unknown" "" "" "0" "" "" "g.20223362G>A" "" "likely pathogenic" "" "0000071773" "0" "90" "13" "20797472" "20797472" "subst" "0" "00008" "GJB6_000012" "g.20797472C>T" "" "{PMID:Baris 2008:18717672}" "" "" "" "De novo" "yes" "" "0" "" "" "g.20223333C>T" "" "pathogenic" "" "0000071774" "1" "90" "13" "20797445" "20797445" "subst" "0" "00008" "GJB6_000011" "g.20797445C>G" "" "{PMID:Nemoto-Hasebe 2009:19416251}" "" "" "" "Unknown" "" "" "0" "" "" "g.20223306C>G" "" "pathogenic" "" "0000071775" "1" "90" "13" "20797510" "20797510" "subst" "4.06062E-6" "00008" "GJB6_000013" "g.20797510A>T" "" "{PMID:Smith 2002:11874494}, {OMIM604418:0005}" "" "" "" "Unknown" "" "" "0" "" "" "g.20223371A>T" "" "pathogenic" "" "0000071776" "1" "90" "13" "20797559" "20797559" "del" "0" "00008" "GJB6_000010" "g.20797559del" "" "{PMID:Gardner 2006:16950989}" "" "" "" "Unknown" "" "" "0" "" "" "g.20223420del" "" "pathogenic" "" "0000071785" "2" "99" "13" "20797177" "21105945" "del" "0" "00006" "GJB6_000016" "g.20797177_21105945del" "" "{PMID:del Castillo 2002:11807148}, {DOI:del Castillo 2002:10.1056/NEJMoa012052}, {OMIM" "" "c.-301126_443del" "disease caused by di-genic inheritance; 342 kb deletion" "Germline" "yes" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic" "" "0000071786" "3" "99" "13" "20797177" "21105945" "del" "0" "00006" "GJB6_000016" "g.20797177_21105945del" "" "{PMID:del Castillo 2002:11807148}, {DOI:del Castillo 2002:10.1056/NEJMoa012052}, {OMIM604418:0004}" "" "c.-301126_443del" "342 kb deletion" "Germline" "yes" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic" "" "0000071788" "2" "99" "13" "20802727" "21034768" "del" "0" "00006" "GJB6_000017" "g.20802727_21034768del" "10/47 cases" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}, {OMIM604418:0006}" "" "del(GJB6-D13S1854), c.-229949_-16+992del" "232 kb deletion; fusion transcript CRYL1_GJB6 created?" "Germline" "?" "" "0" "" "" "g.20228588_20460629del" "" "pathogenic (recessive)" "" "0000071791" "0" "55" "13" "20797144" "20797144" "subst" "0.000515711" "00006" "GJB6_000018" "g.20797144T>C" "" "" "" "" "" "Unknown" "" "rs35277762" "0" "" "" "g.20223005T>C" "" "VUS" "" "0000071792" "0" "11" "13" "20797467" "20797467" "subst" "3.65461E-5" "00006" "GJB6_000019" "g.20797467G>A" "" "" "" "" "" "Unknown" "" "rs185764408" "0" "" "" "g.20223328G>A" "" "benign" "" "0000071794" "21" "99" "13" "20803718" "20805372" "" "0" "00006" "GJB6_000015" "g.(20797635_20803718)_(20805372_?)del" "" "{PMID:Lerer 2001:11668644}, {DOI:Lerer 2001:10.1002/humu.1222}" "" "" ">140 kb deletion; normal expression GJB2 gene on same chromosome" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000071796" "21" "99" "13" "20803718" "20805372" "" "0" "00006" "GJB6_000015" "g.(20797635_20803718)_(20805372_?)del" "" "{PMID:Lerer 2001:11668644}, {DOI:Lerer 2001:10.1002/humu.1222}" "" "" ">140 kb deletion" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000089915" "0" "50" "13" "20797559" "20797559" "subst" "8.12717E-6" "01551" "GJB6_000020" "g.20797559C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.20223420C>T" "" "VUS" "" "0000188684" "0" "90" "13" "20797177" "21105945" "del" "0" "00110" "GJB6_000016" "g.20797177_21105945del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "del(GJB6-D13S1830), g.20222988_20531806del" "variant description published was not correct (D.Baux)" "Germline/De novo (untested)" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic" "" "0000188695" "0" "90" "13" "20797177" "21105945" "del" "0" "00110" "GJB6_000016" "g.20797177_21105945del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "del(GJB6-D13S1830), g.20222988_20531806del" "variant description published was not correct (D.Baux)" "Germline/De novo (untested)" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic" "" "0000188726" "21" "90" "13" "20797177" "21105945" "del" "0" "00110" "GJB6_000016" "g.20797177_21105945del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "g.20222988_20531806del" "variant description published was not correct (D.Baux)" "Germline" "yes" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic" "" "0000288367" "0" "90" "13" "20797461" "20797461" "subst" "0" "01943" "GJB6_000022" "g.20797461G>T" "" "" "" "GJB6(NM_001110219.3):c.159C>A (p.C53*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20223322G>T" "" "pathogenic" "" "0000288368" "0" "30" "13" "20797131" "20797131" "subst" "0.00323644" "01943" "GJB6_000007" "g.20797131C>T" "" "" "" "GJB6(NM_001110219.3):c.489G>A (p.L163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20222992C>T" "" "likely benign" "" "0000341615" "0" "90" "13" "20797357" "20797357" "subst" "0" "02327" "GJB6_000023" "g.20797357G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20223218G>T" "" "pathogenic" "" "0000345663" "0" "90" "13" "20797589" "20797589" "subst" "4.07412E-6" "02327" "GJB6_000002" "g.20797589C>T" "" "" "" "GJB6(NM_006783.5):c.31G>A (p.G11R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20223450C>T" "" "pathogenic" "" "0000348561" "0" "50" "13" "20797411" "20797411" "subst" "1.21908E-5" "02327" "GJB6_000024" "g.20797411G>A" "" "" "" "GJB6(NM_006783.5):c.209C>T (p.P70L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20223272G>A" "" "VUS" "" "0000406355" "3" "90" "13" "20797177" "21105945" "del" "0" "00006" "GJB6_000016" "g.20797177_21105945del" "1/210 cases (no GJB2 variant)" "{PMID:del Castillo 2002:11807148}" "" "del(GJB6-D13S1830), c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000406356" "1" "90" "13" "20797177" "21105945" "del" "0" "00006" "GJB6_000016" "g.20797177_21105945del" "20/30 cases" "{PMID:del Castillo 2002:11807148}" "" "del(GJB6-D13S1830), c.-301126_443del" "309 kb deletion; not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000406357" "1" "90" "13" "20797177" "21105945" "del" "0" "00006" "GJB6_000016" "g.20797177_21105945del" "2/3 cases" "{PMID:del Castillo 2002:11807148}" "" "del(GJB6-D13S1830), c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000406358" "2" "70" "13" "20797177" "21105945" "del" "0" "02476" "GJB6_000016" "g.20797177_21105945del" "" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1830), c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000406361" "2" "99" "13" "20802727" "21034768" "del" "0" "00006" "GJB6_000017" "g.20802727_21034768del" "1/47 cases" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}, {OMIM604418:0006}" "" "del(GJB6-D13S1854), c.-229949_-16+992del" "232 kb deletion" "Germline" "" "" "0" "" "" "g.20228588_20460629del" "" "pathogenic (recessive)" "" "0000406362" "2" "99" "13" "20802727" "21034768" "del" "0" "00006" "GJB6_000017" "g.20802727_21034768del" "1/47 cases" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}, {OMIM604418:0006}" "" "del(GJB6-D13S1854), c.-229949_-16+992del" "232 kb deletion" "Germline" "" "" "0" "" "" "g.20228588_20460629del" "" "pathogenic (recessive)" "" "0000406363" "2" "99" "13" "20802727" "21034768" "del" "0" "00006" "GJB6_000017" "g.20802727_21034768del" "1/53 cases" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}, {OMIM604418:0006}" "" "del(GJB6-D13S1854), c.-229949_-16+992del" "232 kb deletion" "Germline" "" "" "0" "" "" "g.20228588_20460629del" "" "pathogenic (recessive)" "" "0000406364" "2" "99" "13" "20802727" "21034768" "del" "0" "00006" "GJB6_000017" "g.20802727_21034768del" "4/18 cases" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}, {OMIM604418:0006}" "" "del(GJB6-D13S1854), c.-229949_-16+992del" "232 kb deletion" "Germline" "" "" "0" "" "" "g.20228588_20460629del" "" "pathogenic (recessive)" "" "0000406365" "2" "99" "13" "20802727" "21034768" "del" "0" "00006" "GJB6_000017" "g.20802727_21034768del" "1/16 cases" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}, {OMIM604418:0006}" "" "del(GJB6-D13S1854), c.-229949_-16+992del" "232 kb deletion" "Germline" "" "" "0" "" "" "g.20228588_20460629del" "" "pathogenic (recessive)" "" "0000406367" "1" "90" "13" "20797177" "21105945" "del" "0" "00006" "GJB6_000016" "g.20797177_21105945del" "" "{PMID:del Castillo 2005:15994881}" "" "c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000407869" "1" "70" "13" "20802727" "21034768" "del" "0" "02476" "GJB6_000017" "g.20802727_21034768del" "3/476 cases" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1854), c.-229949_-16+992del" "" "Germline" "" "" "0" "" "" "g.20228588_20460629del" "" "pathogenic (recessive)" "" "0000407871" "1" "70" "13" "20802727" "21034768" "del" "0" "02476" "GJB6_000017" "g.20802727_21034768del" "3/476 cases" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1854), c.-229949_-16+992del" "" "Germline" "" "" "0" "" "" "g.20228588_20460629del" "" "pathogenic (recessive)" "" "0000407873" "1" "70" "13" "20802727" "21034768" "del" "0" "02476" "GJB6_000017" "g.20802727_21034768del" "3/476 cases" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1854), c.-229949_-16+992del" "" "Germline" "" "" "0" "" "" "g.20228588_20460629del" "" "pathogenic (recessive)" "" "0000407875" "1" "70" "13" "20797177" "21105945" "del" "0" "02476" "GJB6_000016" "g.20797177_21105945del" "4/476 cases" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1830), c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000407877" "1" "70" "13" "20797177" "21105945" "del" "0" "02476" "GJB6_000016" "g.20797177_21105945del" "4/476 cases" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1830), c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000407879" "1" "70" "13" "20797177" "21105945" "del" "0" "02476" "GJB6_000016" "g.20797177_21105945del" "4/476 cases" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1830), c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000407881" "1" "70" "13" "20797177" "21105945" "del" "0" "02476" "GJB6_000016" "g.20797177_21105945del" "4/476 cases" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1830), c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000407883" "1" "70" "13" "20797177" "21105945" "del" "0" "02476" "GJB6_000016" "g.20797177_21105945del" "2/476 cases" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1830), c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000407885" "1" "70" "13" "20797177" "21105945" "del" "0" "02476" "GJB6_000016" "g.20797177_21105945del" "2/476 cases" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1830), c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000407903" "1" "70" "13" "20797177" "21105945" "del" "0" "02476" "GJB6_000016" "g.20797177_21105945del" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1830), c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000407923" "1" "70" "13" "20797177" "21105945" "del" "0" "02476" "GJB6_000016" "g.20797177_21105945del" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "del(GJB6-D13S1830), c.-301126_443del" "" "Germline" "" "" "0" "" "" "g.20223038_20531806del" "" "pathogenic (recessive)" "" "0000549938" "0" "30" "13" "20797025" "20797025" "subst" "0.00458626" "02327" "GJB6_000008" "g.20797025A>T" "" "" "" "GJB6(NM_001110219.3):c.595T>A (p.S199T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20222886A>T" "" "likely benign" "" "0000549939" "0" "30" "13" "20797025" "20797025" "subst" "0.00458626" "02325" "GJB6_000008" "g.20797025A>T" "" "" "" "GJB6(NM_001110219.3):c.595T>A (p.S199T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20222886A>T" "" "likely benign" "" "0000549940" "0" "30" "13" "20797215" "20797215" "subst" "0.000227461" "01943" "GJB6_000025" "g.20797215C>T" "" "" "" "GJB6(NM_001110219.3):c.405G>A (p.T135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20223076C>T" "" "likely benign" "" "0000549941" "0" "30" "13" "20797281" "20797281" "subst" "0.00066209" "01943" "GJB6_000026" "g.20797281A>T" "" "" "" "GJB6(NM_001110219.3):c.339T>A (p.N113K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20223142A>T" "" "likely benign" "" "0000549942" "0" "30" "13" "20797509" "20797509" "subst" "0.000276124" "01943" "GJB6_000027" "g.20797509C>T" "" "" "" "GJB6(NM_001110219.3):c.111G>A (p.V37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20223370C>T" "" "likely benign" "" "0000549943" "0" "50" "13" "20797559" "20797559" "subst" "8.12717E-6" "01943" "GJB6_000020" "g.20797559C>T" "" "" "" "GJB6(NM_001110219.3):c.61G>A (p.G21R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20223420C>T" "" "VUS" "" "0000549944" "0" "30" "13" "20797559" "20797559" "subst" "8.12717E-6" "02327" "GJB6_000020" "g.20797559C>T" "" "" "" "GJB6(NM_001110219.3):c.61G>A (p.G21R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20223420C>T" "" "likely benign" "" "0000549945" "0" "50" "13" "20797619" "20797619" "subst" "1.64031E-5" "01943" "GJB6_000028" "g.20797619T>C" "" "" "" "GJB6(NM_001110219.3):c.1A>G (p.(Met1?)), GJB6(NM_006783.4):c.1A>G (p.M1?), GJB6(NM_006783.5):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20223480T>C" "" "VUS" "" "0000614516" "0" "70" "13" "20796937" "20796937" "del" "0" "01943" "GJB6_000029" "g.20796937del" "" "" "" "GJB6(NM_001110219.3):c.689delA (p.N230Ifs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20222798del" "" "likely pathogenic" "" "0000614518" "0" "50" "13" "20797619" "20797619" "subst" "1.64031E-5" "02327" "GJB6_000028" "g.20797619T>C" "" "" "" "GJB6(NM_001110219.3):c.1A>G (p.(Met1?)), GJB6(NM_006783.4):c.1A>G (p.M1?), GJB6(NM_006783.5):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20223480T>C" "" "VUS" "" "0000623030" "0" "50" "13" "20797408" "20797408" "subst" "0.000406369" "01943" "GJB6_000030" "g.20797408A>G" "" "" "" "GJB6(NM_006783.4):c.212T>C (p.V71A), GJB6(NM_006783.5):c.212T>C (p.V71A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20223269A>G" "" "VUS" "" "0000657261" "0" "30" "13" "20797013" "20797013" "subst" "0.000759656" "01943" "GJB6_000031" "g.20797013T>C" "" "" "" "GJB6(NM_006783.4):c.607A>G (p.M203V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20222874T>C" "" "likely benign" "" "0000657262" "0" "90" "13" "20797357" "20797357" "subst" "0" "02325" "GJB6_000001" "g.20797357G>A" "" "" "" "GJB6(NM_001110219.3):c.263C>T (p.A88V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20223218G>A" "" "pathogenic" "" "0000679740" "0" "50" "13" "20797472" "20797472" "subst" "0" "02325" "GJB6_000032" "g.20797472C>A" "" "" "" "GJB6(NM_001110219.3):c.148G>T (p.D50Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806042" "0" "30" "13" "20797482" "20797482" "subst" "2.43639E-5" "01943" "GJB6_000033" "g.20797482G>A" "" "" "" "GJB6(NM_006783.4):c.138C>T (p.D46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853589" "0" "30" "13" "20797614" "20797614" "subst" "6.13848E-5" "01943" "GJB6_000034" "g.20797614A>G" "" "" "" "GJB6(NM_006783.4):c.6T>C (p.D2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890904" "0" "50" "13" "20797003" "20797003" "subst" "2.43718E-5" "02325" "GJB6_000035" "g.20797003T>G" "" "" "" "GJB6(NM_006783.5):c.617A>C (p.N206T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890905" "0" "50" "13" "20797366" "20797366" "subst" "0" "02325" "GJB6_000036" "g.20797366G>A" "" "" "" "GJB6(NM_006783.5):c.254C>T (p.S85F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890906" "0" "50" "13" "20797619" "20797619" "subst" "1.64031E-5" "02325" "GJB6_000028" "g.20797619T>C" "" "" "" "GJB6(NM_001110219.3):c.1A>G (p.(Met1?)), GJB6(NM_006783.4):c.1A>G (p.M1?), GJB6(NM_006783.5):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967168" "0" "50" "13" "20797408" "20797408" "subst" "0.000406369" "02325" "GJB6_000030" "g.20797408A>G" "" "" "" "GJB6(NM_006783.4):c.212T>C (p.V71A), GJB6(NM_006783.5):c.212T>C (p.V71A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026263" "0" "50" "13" "20797319" "20797319" "subst" "0.000162808" "02325" "GJB6_000037" "g.20797319C>T" "" "" "" "GJB6(NM_006783.5):c.301G>A (p.E101K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026264" "0" "50" "13" "20797411" "20797411" "subst" "1.21908E-5" "02325" "GJB6_000024" "g.20797411G>A" "" "" "" "GJB6(NM_006783.5):c.209C>T (p.P70L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026265" "0" "90" "13" "20797589" "20797589" "subst" "4.07412E-6" "02325" "GJB6_000002" "g.20797589C>T" "" "" "" "GJB6(NM_006783.5):c.31G>A (p.G11R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039601" "0" "50" "13" "20797199" "20797199" "del" "0" "01804" "GJB6_000038" "g.20797199del" "" "" "" "GJB6(NM_001110219.3):c.425del (p.(Phe142Serfs*26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048345" "21" "50" "13" "20797510" "20797510" "subst" "0" "00006" "GJB6_000039" "g.20797510A>G" "" "{PMID:Caengprasath 2023:37923657}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0001054583" "0" "50" "13" "20797370" "20797370" "subst" "8.16666E-6" "01804" "GJB6_000040" "g.20797370C>T" "" "" "" "GJB6(NM_001110219.3):c.250G>A (p.(Val84Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065903" "0" "50" "13" "20796937" "20796937" "dup" "0" "02325" "GJB6_000041" "g.20796937dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065904" "0" "50" "13" "20797619" "20797619" "subst" "1.64031E-5" "01804" "GJB6_000028" "g.20797619T>C" "" "" "" "GJB6(NM_001110219.3):c.1A>G (p.(Met1?)), GJB6(NM_006783.4):c.1A>G (p.M1?), GJB6(NM_006783.5):c.1A>G (p.M1?)" "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 GJB6 ## Count = 91 "{{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}}" "0000037967" "00024008" "90" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ala88Val)" "3" "0000052405" "00024008" "90" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "3" "0000052406" "00024008" "90" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "3" "0000052407" "00024008" "90" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "3" "0000052408" "00024008" "90" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "3" "0000052409" "00024008" "90" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "3" "0000052410" "00024008" "90" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "3" "0000052411" "00024008" "90" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "3" "0000052412" "00024008" "90" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "3" "0000052413" "00024008" "90" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "3" "0000052414" "00024008" "90" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ala88Val)" "3" "0000052415" "00024008" "90" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ala88Val)" "3" "0000052416" "00024008" "90" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ala88Val)" "3" "0000071757" "00024008" "90" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Thr5Met)" "3" "0000071758" "00024008" "99" "63" "0" "63" "0" "c.63del" "r.(?)" "p.(Lys22Argfs*13)" "3" "0000071763" "00024008" "11" "117" "0" "117" "0" "c.117T>C" "r.(=)" "p.(Ala39=)" "3" "0000071764" "00024008" "11" "174" "0" "174" "0" "c.174G>A" "r.(=)" "p.(Pro85=)" "3" "0000071765" "00024008" "11" "396" "0" "396" "0" "c.396G>A" "r.(=)" "p.(L132=)" "3" "0000071766" "00024008" "31" "415" "0" "415" "0" "c.415A>G" "r.(?)" "p.(Ser139Gly)" "3" "0000071767" "00024008" "11" "489" "0" "489" "0" "c.489G>A" "r.(=)" "p.(L163=)" "3" "0000071768" "00024008" "31" "595" "0" "595" "0" "c.595T>A" "r.(?)" "p.(Ser199Thr)" "3" "0000071771" "00024008" "70" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "3" "0000071773" "00024008" "90" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Asp50Asn)" "3" "0000071774" "00024008" "90" "175" "0" "175" "0" "c.175G>C" "r.(?)" "p.(Gly59Arg)" "3" "0000071775" "00024008" "90" "110" "0" "110" "0" "c.110T>A" "r.(?)" "p.(Val37Glu)" "3" "0000071776" "00024008" "90" "63" "0" "63" "0" "c.63del" "r.(?)" "p.(Lys22Argfs*13)" "3" "0000071785" "00024008" "99" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0" "p.0" "_1_3" "0000071786" "00024008" "99" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0" "p.0" "_1_3" "0000071788" "00024008" "99" "-229949" "0" "-16" "992" "c.-553_-16+992{0}" "r.0?" "p.0?" "_1_2i" "0000071791" "00024008" "55" "476" "0" "476" "0" "c.476A>G" "r.(?)" "p.(Asn159Ser)" "3" "0000071792" "00024008" "11" "153" "0" "153" "0" "c.153C>T" "r.(=)" "p.(Phe51=)" "3" "0000071794" "00024008" "99" "-553" "0" "-16" "0" "c.-553_(-16+1_-15-1){0}" "r.0?" "p.0?" "_1_2i" "0000071796" "00024008" "99" "-553" "0" "-16" "0" "c.-553_(-16+1_-15-1){0}" "r.0?" "p.0?" "_1_2i" "0000089915" "00024008" "50" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Gly21Arg)" "" "0000188684" "00024008" "90" "-301126" "0" "493" "0" "c.-553_443{0}" "r.?" "p.?" "_1_3" "0000188695" "00024008" "90" "-301126" "0" "493" "0" "c.-553_443{0}" "r.?" "p.?" "_1_3" "0000188726" "00024008" "90" "-301126" "0" "493" "0" "c.-553_443{0}" "r.?" "p.?" "_1_3" "0000288367" "00024008" "90" "159" "0" "159" "0" "c.159C>A" "r.(?)" "p.(Cys53Ter)" "" "0000288368" "00024008" "30" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(Leu163=)" "" "0000341615" "00024008" "90" "263" "0" "263" "0" "c.263C>A" "r.(?)" "p.(Ala88Glu)" "" "0000345663" "00024008" "90" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "" "0000348561" "00024008" "50" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Pro70Leu)" "" "0000406355" "00024008" "90" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000406356" "00024008" "90" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000406357" "00024008" "90" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000406358" "00024008" "70" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000406361" "00024008" "99" "-229949" "0" "-16" "992" "c.-553_-16+992{0}" "r.0?" "p.0?" "_1_2i" "0000406362" "00024008" "99" "-229949" "0" "-16" "992" "c.-553_-16+992{0}" "r.0?" "p.0?" "_1_2i" "0000406363" "00024008" "99" "-229949" "0" "-16" "992" "c.-553_-16+992{0}" "r.0?" "p.0?" "_1_2i" "0000406364" "00024008" "99" "-229949" "0" "-16" "992" "c.-553_-16+992{0}" "r.0?" "p.0?" "_1_2i" "0000406365" "00024008" "99" "-229949" "0" "-16" "992" "c.-553_-16+992{0}" "r.0?" "p.0?" "_1_2i" "0000406367" "00024008" "90" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000407869" "00024008" "70" "-229949" "0" "-16" "992" "c.-553_-16+992{0}" "r.0?" "p.0?" "_1_2i" "0000407871" "00024008" "70" "-229949" "0" "-16" "992" "c.-553_-16+992{0}" "r.0?" "p.0?" "_1_2i" "0000407873" "00024008" "70" "-229949" "0" "-16" "992" "c.-553_-16+992{0}" "r.0?" "p.0?" "_1_2i" "0000407875" "00024008" "70" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000407877" "00024008" "70" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000407879" "00024008" "70" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000407881" "00024008" "70" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000407883" "00024008" "70" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000407885" "00024008" "70" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000407903" "00024008" "70" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000407923" "00024008" "70" "-301126" "0" "443" "0" "c.-553_443{0}" "r.0?" "p.0?" "_1_3" "0000549938" "00024008" "30" "595" "0" "595" "0" "c.595T>A" "r.(?)" "p.(Ser199Thr)" "" "0000549939" "00024008" "30" "595" "0" "595" "0" "c.595T>A" "r.(?)" "p.(Ser199Thr)" "" "0000549940" "00024008" "30" "405" "0" "405" "0" "c.405G>A" "r.(?)" "p.(Thr135=)" "" "0000549941" "00024008" "30" "339" "0" "339" "0" "c.339T>A" "r.(?)" "p.(Asn113Lys)" "" "0000549942" "00024008" "30" "111" "0" "111" "0" "c.111G>A" "r.(?)" "p.(Val37=)" "" "0000549943" "00024008" "50" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Gly21Arg)" "" "0000549944" "00024008" "30" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Gly21Arg)" "" "0000549945" "00024008" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000614516" "00024008" "70" "689" "0" "689" "0" "c.689del" "r.(?)" "p.(Asn230IlefsTer7)" "" "0000614518" "00024008" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000623030" "00024008" "50" "212" "0" "212" "0" "c.212T>C" "r.(?)" "p.(Val71Ala)" "" "0000657261" "00024008" "30" "607" "0" "607" "0" "c.607A>G" "r.(?)" "p.(Met203Val)" "" "0000657262" "00024008" "90" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ala88Val)" "" "0000679740" "00024008" "50" "148" "0" "148" "0" "c.148G>T" "r.(?)" "p.(Asp50Tyr)" "" "0000806042" "00024008" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(Asp46=)" "" "0000853589" "00024008" "30" "6" "0" "6" "0" "c.6T>C" "r.(?)" "p.(Asp2=)" "" "0000890904" "00024008" "50" "617" "0" "617" "0" "c.617A>C" "r.(?)" "p.(Asn206Thr)" "" "0000890905" "00024008" "50" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ser85Phe)" "" "0000890906" "00024008" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000967168" "00024008" "50" "212" "0" "212" "0" "c.212T>C" "r.(?)" "p.(Val71Ala)" "" "0001026263" "00024008" "50" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Glu101Lys)" "" "0001026264" "00024008" "50" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Pro70Leu)" "" "0001026265" "00024008" "90" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "" "0001039601" "00024008" "50" "425" "0" "425" "0" "c.425del" "r.(?)" "p.(Phe142Serfs*26)" "" "0001048345" "00024008" "50" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Val37Ala)" "" "0001054583" "00024008" "50" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Val84Ile)" "" "0001065903" "00024008" "50" "689" "0" "689" "0" "c.689dup" "r.(?)" "p.(Asn230Lysfs*11)" "" "0001065904" "00024008" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{variantid}}" "0000017799" "0000037967" "0000029054" "0000052405" "0000029055" "0000052406" "0000029056" "0000052407" "0000029057" "0000052408" "0000029058" "0000052409" "0000029059" "0000052410" "0000029060" "0000052411" "0000029061" "0000052412" "0000029062" "0000052413" "0000029063" "0000052414" "0000029064" "0000052415" "0000029065" "0000052416" "0000043972" "0000071757" "0000043973" "0000071758" "0000043978" "0000071763" "0000043979" "0000071764" "0000043980" "0000071765" "0000043981" "0000071766" "0000043982" "0000071767" "0000043983" "0000071768" "0000043986" "0000071771" "0000043988" "0000071773" "0000043989" "0000071774" "0000043990" "0000071775" "0000043991" "0000071776" "0000043997" "0000071785" "0000043998" "0000071786" "0000043999" "0000071788" "0000044006" "0000071794" "0000044007" "0000071796" "0000059118" "0000089915" "0000117704" "0000188684" "0000117712" "0000188695" "0000117732" "0000188726" "0000182168" "0000406358" "0000182472" "0000406355" "0000182473" "0000406356" "0000182474" "0000406357" "0000182475" "0000406361" "0000182476" "0000406362" "0000182476" "0000406367" "0000182477" "0000406363" "0000182478" "0000406364" "0000182479" "0000406365" "0000183961" "0000407869" "0000183962" "0000407871" "0000183963" "0000407873" "0000183964" "0000407875" "0000183965" "0000407877" "0000183966" "0000407879" "0000183967" "0000407881" "0000183968" "0000407883" "0000183969" "0000407885" "0000183978" "0000407903" "0000183988" "0000407923" "0000468510" "0001048345"