### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GJB2) # 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}}" "GJB2" "gap junction protein, beta 2, 26kDa" "13" "q11-q12" "unknown" "NG_008358.1" "UD_132118853870" "" "" "Connexin-deafness homepage " "1" "4284" "" "121011" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/GJB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2014-10-31 14:49:41" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000993" "GJB2" "gap junction protein, beta 2, 26kDa" "001" "NM_004004.5" "" "NP_003995.2" "" "" "" "-215" "2119" "681" "20761602" "20767114" "00000" "2012-09-13 13:05:02" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 27 "{{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" "" "" "00161" "IP" "incontinentia pigmenti (IP)" "XLD" "308300" "" "" "" "00006" "2013-06-28 11:48:50" "00006" "2021-02-04 13:31:44" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01276" "VOWNKL" "Vohwinkel syndrome" "AD" "124500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01403" "KIDAD" "keratitis-ichthyosis-deafness syndrome, autosomal dominant" "AD" "148210" "" "" "" "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" "01409" "BAPS" "Bart-Pumphrey syndrome" "AD" "149200" "" "" "" "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" "02116" "USH2A" "Usher syndrome,, type 2A (USH2A)" "AR" "276901" "" "" "" "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" "02432" "-" "Hystrix-like ichthyosis with deafness" "AD" "602540" "" "" "" "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" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "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" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05667" "WS" "Waardenburg syndrome (WS)" "" "" "" "" "" "00008" "2019-10-30 16:28:42" "00006" "2021-12-10 21:51:32" "05976" "STHAG" "agenesis, tooth, selective (STHAG)" "" "" "" "" "" "00006" "2021-10-18 13:22:32" "" "" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{geneid}}" "{{diseaseid}}" "GJB2" "01276" "GJB2" "01403" "GJB2" "01404" "GJB2" "01409" "GJB2" "01745" "GJB2" "02371" "GJB2" "02432" ## Individuals ## Do not remove or alter this header ## ## Count = 323 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00024124" "" "" "" "10" "" "00810" "" "4 families, 10 affecteds" "" "" "Pakistan" "" "0" "" "" "" "" "00024125" "" "" "" "7" "" "00810" "" "2 families, 7 affecteds" "" "" "Pakistan" "" "0" "" "" "" "" "00024126" "" "" "" "10" "" "00810" "" "2 families, 10 affecteds" "" "" "(Pakistan)" "" "0" "" "" "" "" "00024131" "" "" "" "1" "" "00006" "{PMID:Estivill 1998:9482292}, {DOI:Estivill 1998:10.1016/S0140-6736(97)11124-2}" "" "?" "?" "Spain" "" "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" "" "" "" "" "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" "" "00043764" "" "" "00043762" "1" "" "00006" "{PMID:Lerer 2001:11668644}, {DOI:Lerer 2001:10.1002/humu.1222}" "2-generation family, affected father (I1), affected son (II3) and daugther (II4)" "M" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00046611" "" "" "" "7" "" "00006" "{PMID:Falk 2012:22842227}; {DOI:Falk 2012:10.1038/ng.2361}" "4-generation family seggregating LCA and hearing loss, 7 affecteds (2 LCA, 2 hearing loss, 3 both), unaffected heterozygous carrier parents/sibs" "" "yes" "Pakistan" "" "0" "" "" "" "" "00050598" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00059144" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00060258" "" "" "" "3" "" "01542" "{PMID:Behar 2014:24367894}, {DOI:Behar 2014:10.1089/gtmb.2013.0328}" "3-generation family, 2 affecteds (F, M), unaffected carrier parents/sibs; family segregates GJB2 and USH2A variants" "F;M" "no" "Israel" "" "0" "" "" "Iraq;Jewish;Jewish-Ashkenazi" "" "00060259" "" "" "00060258" "1" "" "01542" "{PMID:Behar 2014:24367894}, {DOI:Behar 2014:10.1089/gtmb.2013.0328}" "3-generation family, 1 affected, unaffected carrier parents/sibs; family segregates GJB2 and USH2A variants" "M" "no" "Israel" "" "0" "" "" "Iraq;Jewish" "" "00080025" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080026" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080028" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080039" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080045" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080046" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080049" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080051" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080057" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00081072" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00092242" "" "" "" "1" "" "00006" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "2-generation family, 1 affected, unaffected heterozygous carrier mother/unaffected homozygous carrier father" "M" "no" "United States" "" "0" "" "" "Filipino" "" "00104025" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-716A" "00117226" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1504" "00117227" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "" "France" "" "0" "" "" "" "S1528" "00117228" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1534" "00117229" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "" "Algeria" "" "0" "" "" "" "S1546" "00117230" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "" "" "" "0" "" "" "" "S1547" "00117231" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1550" "00117232" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1563" "00117233" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1567" "00117234" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1577" "00117235" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "Turkey" "" "0" "" "" "" "S1578" "00117236" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "" "" "0" "" "" "" "S1579" "00117237" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1584" "00117238" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "" "" "0" "" "" "" "S1582" "00117239" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1594" "00117240" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1599" "00117241" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1604" "00117242" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1606" "00117243" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1621" "00117244" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1635" "00117245" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1636" "00117246" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1647" "00117247" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1654" "00117248" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1674" "00117249" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1685" "00117250" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "" "" "0" "" "" "" "S1686" "00117251" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "Portugal" "" "0" "" "" "" "S1589" "00117252" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1694" "00117253" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1705" "00117254" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1715" "00117255" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1716" "00117256" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1720" "00117257" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1727" "00117258" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1735" "00117259" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1740" "00117260" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1754" "00117261" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "" "" "0" "" "" "" "S1760" "00117262" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1768" "00117263" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1771" "00117264" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1778" "00117265" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "Morocco" "" "0" "" "" "" "S1790" "00117266" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1791" "00117267" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1795" "00117268" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1801" "00117269" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1820" "00117270" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1825" "00117271" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1851" "00117272" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1854" "00117273" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1857" "00117274" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1872" "00117278" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1566" "00117287" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1733" "00132291" "" "" "" "8" "" "00088" "{PMID:Eisenberger 2018:29309402}" "4-generation family, 8 affected (4F, 4M)" "M" "no" "Germany" "" "0" "" "" "white" "FamPatIV2" "00170804" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband - Age 14 at the time of the study - possible USH2" "F" "" "France" "" "0" "" "" "" "S1679" "00181170" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "68944" "00181181" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "M" "-" "Argentina" "22y" "0" "" "" "" "24158611-Pat" "00181208" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "M" "?" "(Argentina)" "?" "0" "" "cochlear implant" "" "24158611-Pat" "00181210" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Argentina" ">30y" "0" "" "" "" "24158611-Pat" "00181222" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "M" "no" "Argentina" ">02y" "0" "" "" "" "24158611-Pat" "00181514" "" "" "" "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" "" "" "" "" "00182956" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182957" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182958" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182959" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182960" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182961" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182962" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182963" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182964" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182965" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182966" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182967" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182968" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182969" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182970" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182971" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182972" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182973" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182974" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182975" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182976" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182977" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182978" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182979" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182980" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182981" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182982" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182983" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182984" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182985" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182986" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182987" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182989" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182990" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182991" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182992" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182993" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182994" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182995" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182996" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182997" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182998" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00182999" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183000" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "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" "00183010" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183011" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183012" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183013" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183014" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183015" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183017" "" "" "" "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" "00183019" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183020" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183021" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183022" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183023" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183024" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183025" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183026" "" "" "" "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" "00183029" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "analysis 476 unrelated non-syndromic deaf individuals" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183030" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183031" "" "" "" "62" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183032" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183033" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183035" "" "" "" "2" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183036" "" "" "" "2" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183039" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183040" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183041" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00183042" "" "" "" "1" "" "02476" "{PMID:Dalamon 2013:24158611}" "" "" "" "Argentina" "" "0" "" "" "" "24158611-Pat" "00229874" "" "" "" "1" "" "02476" "" "" "M" "?" "Argentina" "38y" "0" "" "" "" "" "00290845" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290846" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290847" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290848" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290849" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290850" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290851" "" "" "" "121" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290852" "" "" "" "32" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290853" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290854" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295258" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295259" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295462" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295915" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295954" "" "" "" "1" "" "03607" "" "" "M" "?" "Korea, South (Republic)" "01y" "0" "" "" "Asian" "SB384-748" "00304393" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308740" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00309866" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "HL014" "00309871" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "HL025" "00315612" "" "" "" "11" "" "03808" "{PMID:Yan 2011:22196401}" "5-generation family, 10 affected (6F, 5M), PatV3 compount heterozygous GJB2" "M" "" "China" "" "0" "" "" "" "FamPatV3" "00328537" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" "" "00328538" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" "" "00328539" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" "" "00328540" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" "" "00328541" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" "" "00328542" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" "" "00328543" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" "" "00328544" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" "" "00328545" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" "" "00328546" "" "" "" "1" "" "00000" "{PMID:Shaikh 2017:29086887}" "analysis 150 non-familial hearing impaired children" "" "" "Pakistan" "" "0" "" "" "" "" "00358833" "" "" "" "1" "" "04006" "Karina Lezirovitz lab" "not published yet" "F" "no" "Brazil" ">10y" "" "yes" "cochlear implant" "Brazilian admixed" "" "00361904" "" "" "" "1" "" "03219" "" "" "" "" "" "" "" "" "" "" "" "00397401" "" "" "" "3" "" "00006" "{PMID:Choi 2013:23990876}" "family, 3 affected" "" "" "Korea" "" "0" "" "" "" "SH35-75" "00397413" "" "" "" "2" "" "00006" "{PMID:Choi 2013:23990876}" "family, 2 affected" "" "" "Korea" "" "0" "" "" "" "SJ19-19" "00399581" "" "" "" "1" "" "00000" "{PMID:Niepokoj 2018:29151245}" "second degree cousin of index patient" "F" "" "Poland" "" "0" "" "" "" "IV:1" "00410558" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "M" "" "Belgium" "" "0" "" "" "" "Pat20" "00412290" "" "" "" "2" "" "00006" "{PMID:Xie 2022:35813381}, {DOI:Xie 2022:10.3389/fped.2022.900280}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "China" "" "0" "" "" "" "Fam1PatII1/2" "00412465" "" "" "" "2" "" "00006" "{PMID:Velmans 2012:34321323}" "2-generation family, 2 affected brothers" "M" "" "Netherlands" "" "0" "" "" "" "FamPat14" "00412788" "" "" "" "4" "" "04277" "" "analysis 125 individuals with non-syndromic deafness (87 from 57 families, 38 sporadic cases)." "-" "-" "Mexico" "" "0" "" "" "Mestizo. European/Ameridian probable" "" "00413756" "" "" "" "1" "" "00000" "{PMID:Hull-2016:27389523}" "" "F" "yes" "" "" "0" "" "" "Indian" "Patient 1" "00413758" "" "" "" "1" "" "00000" "{PMID:Hull-2016:27389523}" "" "F" "yes" "" "" "0" "" "" "Indian" "Patient 3" "00415184" "" "" "" "29" "" "04277" "" "analysis 125 individuals with non-syndromic deafness (87 from 57 families, 38 sporadic cases)" "-" "" "Mexico" "" "0" "" "" "Mestizo. European/Ameridian probable" "" "00419564" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8016" "00419652" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8039" "00419655" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9088" "00428282" "" "" "" "15" "" "04147" "{PMID:Dia 2022:35625523}" "5-generation family, 15 affected 7F, 8M), unaffected heterozygous carrier parents/relatives; not all affected by variants in GJB2" "F" "yes" "(Senegal)" "" "0" "" "" "Africa" "FamFig2PatV6" "00428292" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "?" "yes" "(Senegal)" "" "0" "" "" "Africa" "family" "00428293" "" "" "" "5" "" "04147" "{PMID:Dia 2022:35625523}" "4-generation family, 5 affected (1F, 4M), unaffected heterozygous carrier parents/relatives" "F" "" "(Senegal)" "" "0" "" "" "Africa" "FamFig1BPatIV2" "00428294" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "" "" "(Senegal)" "" "0" "" "" "Africa" "family" "00428295" "" "" "" "6" "" "04147" "{PMID:Dia 2022:35625523}" "4-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives" "M" "yes" "(Senegal)" "" "0" "" "" "Africa" "FamFig1APatIV2" "00428296" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "" "" "(Senegal)" "" "0" "" "" "Africa" "family" "00428297" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "" "" "(Senegal)" "" "0" "" "" "Africa" "family" "00428298" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "" "" "(Senegal)" "" "0" "" "" "Africa" "family" "00428299" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "" "" "(Senegal)" "" "0" "" "" "Africa" "family" "00428300" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "" "" "(Senegal)" "" "0" "" "" "Africa" "family" "00428301" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "" "" "(Senegal)" "" "0" "" "" "Africa" "family" "00428302" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "" "" "(Senegal)" "" "0" "" "" "Africa" "family" "00428303" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "" "" "(Senegal)" "" "0" "" "" "Africa" "family" "00428304" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "" "" "(Senegal)" "" "0" "" "" "Africa" "family" "00428305" "" "" "" "1" "" "04147" "{PMID:Dia 2022:35625523}" "" "" "" "(Senegal)" "" "0" "" "" "Africa" "family" "00428306" "" "" "" "3" "" "04147" "" "" "F" "no" "(Senegal)" ">27y" "0" "" "" "Africa" "FNSR32" "00428307" "" "" "" "2" "" "04147" "{PMID:Dia 2022:35625523}" "analysis 148 controls" "" "" "Senegal" "" "0" "" "" "Africa" "controls" "00428308" "" "" "" "4" "" "04147" "{PMID:Dia 2022:35625523}" "analysis 148 controls" "" "" "Senegal" "" "0" "" "" "Africa" "controls" "00428699" "" "" "" "1" "" "04147" "{PMID:Wonkam 2013:23924173}" "2-generation family, 1 affected, unaffected parents" "F" "" "Cameroon" ">05y" "0" "" "" "Africa" "Pat1" "00428700" "" "" "" "1" "" "04147" "{PMID:Wonkam 2013:23924173}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Cameroon" ">02y" "0" "" "" "Africa" "Pat2" "00428724" "" "" "" "1" "" "04147" "{PMID:Wonkam 2019:31731535}" "undefined family" "?" "?" "Cameroon" "" "0" "" "" "Africa" "family" "00435042" "" "" "" "1" "" "00006" "{PMID:Washington 2023:37038535}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "United States" "" "0" "" "" "" "patient" "00441123" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamD033" "00441124" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamD040" "00441125" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamD048" "00441126" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamHL051" "00441127" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamM20989" "00441128" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamM21006" "00441129" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamM20960" "00441194" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4551B" "00441195" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4582" "00441196" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4347" "00441197" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4648" "00441198" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4659" "00441199" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4352A" "00441200" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4871" "00441201" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKSR8a" "00441202" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1621" "00441203" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4307" "00441204" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4339" "00441205" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4346" "00441206" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4351" "00441207" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4409" "00441208" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4550" "00441209" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4573" "00441210" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4583" "00441211" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4656" "00441212" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4717" "00441213" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4438A" "00441214" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4866" "00441215" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4981" "00441216" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF021" "00441217" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF936" "00441218" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF939" "00441219" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1368" "00441220" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1553" "00441221" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1655" "00441222" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1760" "00441223" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1666" "00441224" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4528" "00441225" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4537" "00441226" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4015A" "00441227" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4143" "00441228" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4255" "00441229" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4262" "00441230" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4479" "00441231" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4660" "00441232" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4670" "00441233" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4696" "00441234" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4737" "00441235" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4769" "00441236" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4770" "00441237" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4972" "00441238" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1588" "00441239" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1633" "00441240" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1665" "00441241" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1675" "00441242" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1790" "00441243" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4614" "00441244" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1694" "00441245" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1764" "00441536" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "Fam1" "00441537" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "Fam2" "00441538" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "Fam3" "00441615" "" "" "" "8" "" "00006" "{PMID:Kelsell 1997:9139825}, {PMID:Naz 2017:27573290}" "family, 8 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-02" "00441616" "" "" "" "3" "" "00006" "{PMID:Kelsell 1997:9139825}, {PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-12" "00441617" "" "" "" "5" "" "00006" "{PMID:Kelsell 1997:9139825}, {PMID:Naz 2017:27573290}" "family, 5 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLGM25" "00441618" "" "" "" "2" "" "00006" "{PMID:Kelsell 1997:9139825}, {PMID:Naz 2017:27573290}" "family, 2 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLMS16" "00441619" "" "" "" "2" "" "00006" "{PMID:Kelsell 1997:9139825}, {PMID:Naz 2017:27573290}" "family, 2 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLMS34" "00441620" "" "" "" "4" "" "00006" "{PMID:Kelsell 1997:9139825}, {PMID:Naz 2017:27573290}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLRB1" "00441621" "" "" "" "6" "" "00006" "{PMID:Kelsell 1997:9139825}, {PMID:Naz 2017:27573290}" "family, 6 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLRB8" "00441622" "" "" "" "3" "" "00006" "{PMID:Kelsell 1997:9139825}, {PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAM09" "00441623" "" "" "" "3" "" "00006" "{PMID:Marlin 2005:15967879}, {PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLMR2" "00447116" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-830" "00457811" "" "" "" "1" "" "00006" "{PMID:Koruga 2021:37189872}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Croatia (Hrvatska)" "" "0" "" "" "" "patient" "00465561" "" "" "" "1608" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465562" "" "" "" "215" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465563" "" "" "" "31" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465564" "" "" "" "6" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465565" "" "" "" "5" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465566" "" "" "" "2" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465567" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465568" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465569" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465570" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465571" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465572" "" "" "" "5" "" "00006" "{PMID:Wu 2013:23451214}" "4-generation family, 5 affected (3F, 2M)" "F;M" "" "Taiwan" "" "0" "" "" "" "DE2624" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 327 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00024124" "00531" "00024125" "00531" "00024126" "00531" "00024131" "01745" "00043755" "01745" "00043757" "03171" "00043762" "00531" "00043763" "00531" "00043764" "00531" "00046611" "01745" "00046611" "04210" "00050598" "00198" "00059144" "00531" "00060258" "02116" "00060259" "01745" "00080025" "05103" "00080026" "05103" "00080028" "05103" "00080039" "05103" "00080045" "05103" "00080046" "05103" "00080049" "05103" "00080051" "05103" "00080057" "05103" "00081072" "01403" "00092242" "00198" "00092242" "01745" "00104025" "03381" "00117226" "05103" "00117227" "05103" "00117228" "05103" "00117229" "05103" "00117230" "05103" "00117231" "05103" "00117232" "05103" "00117233" "05103" "00117234" "05103" "00117235" "05103" "00117236" "05103" "00117237" "05103" "00117238" "05103" "00117239" "05103" "00117240" "05103" "00117241" "05103" "00117242" "05103" "00117243" "05103" "00117244" "05103" "00117245" "05103" "00117246" "05103" "00117247" "05103" "00117248" "05103" "00117249" "05103" "00117250" "05103" "00117251" "05103" "00117252" "05103" "00117253" "05103" "00117254" "05103" "00117255" "05103" "00117256" "05103" "00117257" "05103" "00117258" "05103" "00117259" "05103" "00117260" "05103" "00117261" "05103" "00117262" "05103" "00117263" "05103" "00117264" "05103" "00117265" "05103" "00117266" "05103" "00117267" "05103" "00117268" "05103" "00117269" "05103" "00117270" "05103" "00117271" "05103" "00117272" "05103" "00117273" "05103" "00117274" "05103" "00117278" "05103" "00117287" "05103" "00132291" "06877" "00170804" "05458" "00181170" "00344" "00181181" "05103" "00181208" "05103" "00181210" "05400" "00181222" "05400" "00181514" "03171" "00181516" "03171" "00181517" "03171" "00181518" "03171" "00182956" "05103" "00182957" "05103" "00182958" "05103" "00182959" "05103" "00182960" "05103" "00182961" "05103" "00182962" "05103" "00182963" "05103" "00182964" "05103" "00182965" "05103" "00182966" "05103" "00182967" "05103" "00182968" "05103" "00182969" "05103" "00182970" "05103" "00182971" "05103" "00182972" "05103" "00182973" "05103" "00182974" "05103" "00182975" "05103" "00182976" "05103" "00182977" "05103" "00182978" "05103" "00182979" "05103" "00182980" "05103" "00182981" "05103" "00182982" "05103" "00182983" "05103" "00182984" "05103" "00182985" "05103" "00182986" "05103" "00182987" "05103" "00182989" "05103" "00182990" "05103" "00182991" "05103" "00182992" "05103" "00182993" "05103" "00182994" "05103" "00182995" "05103" "00182996" "05103" "00182997" "05103" "00182998" "05103" "00182999" "05103" "00183000" "05103" "00183001" "05103" "00183002" "05103" "00183003" "05103" "00183004" "05103" "00183005" "05103" "00183006" "05103" "00183007" "05103" "00183008" "05103" "00183009" "05103" "00183010" "05103" "00183011" "05103" "00183012" "05103" "00183013" "05103" "00183014" "05103" "00183015" "05103" "00183017" "05103" "00183018" "05103" "00183019" "05103" "00183020" "05103" "00183021" "05103" "00183022" "05103" "00183023" "05103" "00183024" "05103" "00183025" "05103" "00183026" "05103" "00183028" "05103" "00183029" "05103" "00183030" "05103" "00183031" "05103" "00183032" "05103" "00183033" "05103" "00183035" "05103" "00183036" "05103" "00183039" "05103" "00183040" "05103" "00183041" "05103" "00183042" "05103" "00229874" "05103" "00290845" "00198" "00290846" "00198" "00290847" "00198" "00290848" "00198" "00290849" "00198" "00290850" "00198" "00290851" "00198" "00290852" "00198" "00290853" "00198" "00290854" "00198" "00295258" "00198" "00295259" "00198" "00295462" "00198" "00295915" "00198" "00295954" "05103" "00304393" "00198" "00308740" "00000" "00309866" "05086" "00309871" "05086" "00315612" "05667" "00328537" "05103" "00328538" "05103" "00328539" "05103" "00328540" "05103" "00328541" "05103" "00328542" "05103" "00328543" "05103" "00328544" "05103" "00328545" "05103" "00328546" "05103" "00358833" "05086" "00361904" "05667" "00397401" "05086" "00397413" "05086" "00399581" "04214" "00410558" "00198" "00412290" "05121" "00412465" "05611" "00412788" "05458" "00413756" "04214" "00413758" "04214" "00415184" "05458" "00419564" "00198" "00419652" "00198" "00419655" "00198" "00428282" "03171" "00428292" "00531" "00428293" "00531" "00428294" "00531" "00428295" "00531" "00428296" "00531" "00428297" "00531" "00428298" "00531" "00428299" "00531" "00428300" "00531" "00428301" "00531" "00428302" "00531" "00428303" "00531" "00428304" "00531" "00428305" "00531" "00428306" "01745" "00428307" "00000" "00428308" "00000" "00428699" "01403" "00428700" "01403" "00428724" "05458" "00435042" "00161" "00435042" "05121" "00435042" "05976" "00441123" "05086" "00441124" "05086" "00441125" "05086" "00441126" "05086" "00441127" "05086" "00441128" "05086" "00441129" "05086" "00441194" "05086" "00441195" "05086" "00441196" "05086" "00441197" "05086" "00441198" "05086" "00441199" "05086" "00441200" "05086" "00441201" "05086" "00441202" "05086" "00441203" "05086" "00441204" "05086" "00441205" "05086" "00441206" "05086" "00441207" "05086" "00441208" "05086" "00441209" "05086" "00441210" "05086" "00441211" "05086" "00441212" "05086" "00441213" "05086" "00441214" "05086" "00441215" "05086" "00441216" "05086" "00441217" "05086" "00441218" "05086" "00441219" "05086" "00441220" "05086" "00441221" "05086" "00441222" "05086" "00441223" "05086" "00441224" "05086" "00441225" "05086" "00441226" "05086" "00441227" "05086" "00441228" "05086" "00441229" "05086" "00441230" "05086" "00441231" "05086" "00441232" "05086" "00441233" "05086" "00441234" "05086" "00441235" "05086" "00441236" "05086" "00441237" "05086" "00441238" "05086" "00441239" "05086" "00441240" "05086" "00441241" "05086" "00441242" "05086" "00441243" "05086" "00441244" "05086" "00441245" "05086" "00441536" "05086" "00441537" "05086" "00441538" "05086" "00441615" "05086" "00441616" "05086" "00441617" "05086" "00441618" "05086" "00441619" "05086" "00441620" "05086" "00441621" "05086" "00441622" "05086" "00441623" "05086" "00447116" "00198" "00457811" "05611" "00465561" "05086" "00465562" "05086" "00465563" "05086" "00465564" "05086" "00465565" "05086" "00465566" "05086" "00465567" "05086" "00465568" "05086" "00465569" "05086" "00465570" "05086" "00465571" "05086" "00465572" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00161, 00198, 00344, 00531, 01157, 01276, 01403, 01404, 01409, 01745, 02116, 02371, 02432, 03171, 03381, 04210, 04214, 05086, 05103, 05121, 05400, 05458, 05611, 05667, 05976, 06877 ## Count = 292 "{{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}}" "0000020229" "00531" "00024124" "00810" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020230" "00531" "00024125" "00810" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020231" "00531" "00024126" "00810" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000020232" "01745" "00024131" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "" "" "0000034033" "00531" "00043764" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034291" "01745" "00046611" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000034292" "04210" "00046611" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000037210" "00198" "00050598" "00006" "Isolated (sporadic)" "" "congenital sensorineural hearing impairment, autism, specific learning disability, abnormal facial shape, sparse eyebrow, full cheeks, thick lower lip vermilion, broad forehead" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000046747" "02116" "00060258" "01542" "Familial, autosomal recessive" "" "Congenital, moderate HL; retinitis pigmentosa?" "" "" "" "" "" "" "" "" "" "" "" "0000046748" "01745" "00060259" "01542" "Familial, autosomal recessive" "" "Congenital, profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000060641" "01403" "00081072" "01758" "Isolated (sporadic)" "" "Keratitis-ichthyosis-deafness syndrome (OMIM:148210)" "" "" "" "" "" "" "" "" "" "" "" "0000070575" "01745" "00092242" "00006" "Familial, autosomal recessive" "" "moderate stable sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000070576" "00198" "00092242" "00006" "Unknown" "" "cardiomyopathy, sialicaciduria (may be benign)" "" "" "" "" "" "" "" "" "" "" "" "0000081959" "03381" "00104025" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000092473" "05103" "00117226" "00110" "Familial, autosomal recessive" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092474" "05103" "00117227" "00110" "Isolated (sporadic)" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092475" "05103" "00117228" "00110" "Familial, autosomal recessive" "04y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092476" "05103" "00117229" "00110" "Isolated (sporadic)" "10y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092477" "05103" "00117230" "00110" "Familial, autosomal recessive" "03y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092478" "05103" "00117231" "00110" "Familial, autosomal recessive" "28y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092479" "05103" "00117232" "00110" "Isolated (sporadic)" "10y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092480" "05103" "00117233" "00110" "Isolated (sporadic)" "03y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092481" "05103" "00117234" "00110" "Isolated (sporadic)" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092482" "05103" "00117235" "00110" "Isolated (sporadic)" "05y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092483" "05103" "00117236" "00110" "Familial, autosomal recessive" "13y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092484" "05103" "00117237" "00110" "Familial, autosomal recessive" "03y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092485" "05103" "00117238" "00110" "Isolated (sporadic)" "13y" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000092486" "05103" "00117239" "00110" "Familial, autosomal recessive" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092487" "05103" "00117240" "00110" "Familial, autosomal recessive" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092488" "05103" "00117241" "00110" "Isolated (sporadic)" "09y" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000092489" "05103" "00117242" "00110" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092490" "05103" "00117243" "00110" "Isolated (sporadic)" "04y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092491" "05103" "00117244" "00110" "Isolated (sporadic)" "01y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092492" "05103" "00117245" "00110" "Isolated (sporadic)" "03y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092493" "05103" "00117246" "00110" "Familial, autosomal recessive" "02y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092494" "05103" "00117247" "00110" "Isolated (sporadic)" "02y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092495" "05103" "00117248" "00110" "Isolated (sporadic)" "25y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092496" "05103" "00117249" "00110" "Familial, autosomal recessive" "28y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092497" "05103" "00117250" "00110" "Isolated (sporadic)" "11y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092498" "05103" "00117251" "00110" "Isolated (sporadic)" "06y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092499" "05103" "00117252" "00110" "Isolated (sporadic)" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092500" "05103" "00117253" "00110" "Familial, autosomal recessive" "03y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092501" "05103" "00117254" "00110" "Familial, autosomal recessive" "08y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092502" "05103" "00117255" "00110" "Familial, autosomal recessive" "03y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092503" "05103" "00117256" "00110" "Isolated (sporadic)" "03y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092504" "05103" "00117257" "00110" "Isolated (sporadic)" "04y" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000092505" "05103" "00117258" "00110" "Familial, autosomal recessive" "33y" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000092506" "05103" "00117259" "00110" "Isolated (sporadic)" "01y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092507" "05103" "00117260" "00110" "Isolated (sporadic)" "32y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092508" "05103" "00117261" "00110" "Isolated (sporadic)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092509" "05103" "00117262" "00110" "Isolated (sporadic)" "02y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092510" "05103" "00117263" "00110" "Isolated (sporadic)" "06y" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000092511" "05103" "00117264" "00110" "Isolated (sporadic)" "01y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092512" "05103" "00117265" "00110" "Isolated (sporadic)" "04y" "" "<03y" "" "" "" "" "" "" "" "" "" "" "0000092513" "05103" "00117266" "00110" "Isolated (sporadic)" "06y" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000092514" "05103" "00117267" "00110" "Isolated (sporadic)" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092515" "05103" "00117268" "00110" "Familial, autosomal recessive" "04y" "" "<03y" "" "" "" "" "" "" "" "" "" "" "0000092516" "05103" "00117269" "00110" "Isolated (sporadic)" "10y" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000092517" "05103" "00117270" "00110" "Familial, autosomal recessive" "01y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092518" "05103" "00117271" "00110" "Isolated (sporadic)" "02y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092519" "05103" "00117272" "00110" "Isolated (sporadic)" "25y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092520" "05103" "00117273" "00110" "Isolated (sporadic)" "04y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092521" "05103" "00117274" "00110" "Isolated (sporadic)" "01y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092525" "05103" "00117278" "00110" "Familial, autosomal recessive" "08y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092534" "05103" "00117287" "00110" "Isolated (sporadic)" "01y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000135665" "05458" "00170804" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143372" "05103" "00181181" "02476" "Familial, autosomal recessive" "22y" "hypoparathyroidism, congenital bilateral profound HI, cochlear implanted with good outcome" "00y" "03y" "" "" "" "" "" "" "" "" "" "0000143379" "05400" "00181210" "02476" "Familial, autosomal recessive" "30y" "" "" "" "postlingual moderate deafness" "" "" "" "" "" "" "moderate hearing loss" "" "0000143390" "05400" "00181222" "02476" "Familial, autosomal recessive" "02y" "" "00y01m" "" "" "" "" "" "" "" "" "severe-profound prelingual deafness" "" "0000143702" "05103" "00181208" "02476" "Familial, autosomal recessive" "" "profound deafness" "" "" "" "" "" "" "" "" "" "" "" "0000143706" "03171" "00181514" "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" "" "" "" "" "" "" "" "" "" "" "" "0000143718" "05103" "00182956" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143719" "05103" "00182957" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143720" "05103" "00182958" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143721" "05103" "00182959" "02476" "Familial, autosomal recessive" "" "deafness (severe)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143722" "05103" "00182960" "02476" "Familial, autosomal recessive" "" "deafness (severe)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143723" "05103" "00182961" "02476" "Familial, autosomal recessive" "" "deafness (severe)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143724" "05103" "00182962" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143725" "05103" "00182963" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143726" "05103" "00182964" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143727" "05103" "00182965" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143728" "05103" "00182966" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143729" "05103" "00182967" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143730" "05103" "00182968" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143731" "05103" "00182969" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143732" "05103" "00182970" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143733" "05103" "00182971" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143734" "05103" "00182972" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143735" "05103" "00182973" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143736" "05103" "00182974" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143737" "05103" "00182975" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143738" "05103" "00182976" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143739" "05103" "00182977" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143740" "05103" "00182978" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143741" "05103" "00182979" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143742" "05103" "00182980" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143743" "05103" "00182981" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143744" "05103" "00182982" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143745" "05103" "00182983" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143746" "05103" "00182984" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143747" "05103" "00182985" "02476" "Familial, autosomal recessive" "" "deafness (severe)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143748" "05103" "00182986" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143749" "05103" "00182987" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143751" "05103" "00182989" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143752" "05103" "00182990" "02476" "Familial, autosomal recessive" "" "deafness (severe)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143753" "05103" "00182991" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143754" "05103" "00182992" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143755" "05103" "00182993" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143756" "05103" "00182994" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143757" "05103" "00182995" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143758" "05103" "00182996" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143759" "05103" "00182997" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143760" "05103" "00182998" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143761" "05103" "00182999" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143762" "05103" "00183000" "02476" "Familial, autosomal recessive" "" "deafness (severe)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "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" "" "0000143772" "05103" "00183010" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143773" "05103" "00183011" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143774" "05103" "00183012" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143775" "05103" "00183013" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143776" "05103" "00183014" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143777" "05103" "00183015" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143779" "05103" "00183017" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143780" "05103" "00183018" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143781" "05103" "00183019" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143782" "05103" "00183020" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143783" "05103" "00183021" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143784" "05103" "00183022" "02476" "Familial, autosomal recessive" "" "deafness (severe)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143785" "05103" "00183023" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143786" "05103" "00183024" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143787" "05103" "00183025" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143788" "05103" "00183026" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143790" "05103" "00183028" "02476" "Familial, autosomal recessive" "" "deafness (profound)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143791" "05103" "00183029" "02476" "Familial, autosomal recessive" "" "deafness (moderate)" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000143792" "05103" "00183039" "02476" "Familial, autosomal dominant" "" "non-syndromic deafness" "" "" "" "" "" "" "" "" "deafness" "" "" "0000143793" "05103" "00183040" "02476" "Familial, autosomal dominant" "" "syndromic deafness" "" "" "" "" "" "" "" "" "" "deafness" "" "0000143794" "05103" "00183041" "02476" "Familial, autosomal dominant" "" "syndromic deafness" "" "" "" "" "" "" "" "" "" "deafness" "" "0000143795" "05103" "00183042" "02476" "Familial, autosomal dominant" "" "non-syndromic deafness" "" "" "" "" "" "" "" "" "" "deafness" "" "0000144007" "00344" "00181170" "02552" "Isolated (sporadic)" "" "" "00y02m" "" "" "" "" "" "" "" "" "" "" "0000173010" "05103" "00229874" "02476" "Unknown" "38y" "moderate postlingual bilateral deafness\r\nStarted at 30y with symptoms of tinnitus" "30y" "" "" "" "" "" "" "" "" "" "" "0000223391" "00198" "00295915" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Absent speech (HP:0001344); Hearing impairment (HP:0000365); Autism (HP:0000717)" "" "" "" "" "" "" "" "" "" "" "" "0000223430" "05103" "00295954" "03607" "Familial, autosomal recessive" "" "Moderate hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000235181" "05086" "00309866" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFN1A" "hearing loss" "" "0000235186" "05086" "00309871" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000239358" "05667" "00315612" "03808" "Familial, autosomal dominant" "" "see paper;, includes brown freckles on skin sensorineural deafness, blue irides, premature graying" "" "" "" "" "" "" "" "" "WS2" "Waardenburg syndrome" "" "0000246764" "05103" "00328537" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss" "" "0000246765" "05103" "00328538" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss" "" "0000246766" "05103" "00328539" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss" "" "0000246767" "05103" "00328540" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss" "" "0000246768" "05103" "00328541" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss" "" "0000246769" "05103" "00328542" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss" "" "0000246770" "05103" "00328543" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss" "" "0000246771" "05103" "00328544" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss" "" "0000246772" "05103" "00328545" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss" "" "0000246773" "05103" "00328546" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss" "" "0000254047" "05086" "00358833" "04006" "Familial, autosomal recessive" "04y" "HP:0008527, HP:0008619" "00y" "01y" "0y" "" "" "" "" "" "" "" "" "0000257300" "05667" "00361904" "03219" "Familial, autosomal recessive" "" "Telecanthus, heterochromia iridis, white forelock and bilateral hand contractures, hearing loss in both parents, paternal uncle and paternal grandmother" "" "" "" "" "" "" "" "" "" "" "" "0000290539" "05086" "00397401" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000290551" "05086" "00397413" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000292687" "04214" "00399581" "00000" "Familial, autosomal recessive" "" "100 dB in the right ear and 60 dB in the left ear (for a frequency of 1000 Hz)" "" "" "" "" "" "" "" "" "Non-syndromic hearing loss" "Non-syndromic hearing loss" "" "0000302661" "00198" "00410558" "00006" "Familial, autosomal recessive" "" "see paper; ..., onset neonatal, congenital hearing loss, family history" "" "" "" "" "" "" "" "" "DFNB1A" "" "" "0000304294" "05121" "00412290" "00006" "Familial, autosomal recessive" "" "see paper; ...; 9y-myalgia; 10y-sensorineural hearing loss; 17y-exercise-induced myalgia" "" "" "" "" "" "" "" "" "LGMD2E;DFNB1A" "sarcoglycanopathy, hearing loss" "" "0000304467" "05611" "00412465" "00006" "Familial, autosomal dominant" "07y" "no macrocephaly, OFC Z+0.9; no dolichocephaly; no large forehead; no epicanthal folds; no deep-set eyes; no prominent nasolabial folds; no full cheeks; small ears; finger/toe clinodactyly; no developmental motor delay; 15m-16m-walk; no developmental speech delay; no developmental regression; no intellectual disability, high average IQ; autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; no muscular hypotonia; no ADHD; stereotypical behavior; no self-injurious behavior; no aggressive behavior; no sleep disturbances; no corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; no cerebral cysts; no delayed myelination; no constipation; no gastroesophageal reflux; no vomiting; preauricular sinus on left ear, sinus at crus helix on right ear, pervasive developmental disorder, bleeding tendency, mild to moderate sensorineural hearing impairment" "" "" "" "" "" "" "" "" "ODLURO;DFNB1A" "neurodevelopmental delay" "" "0000305721" "04214" "00413756" "00000" "Unknown" "15y" "hypogammaglobulinemia; bilateral, posterior subcapsular cataracts; BCVA: 0.10 logMAR OD and 0.14 logMAR OS" "9m" "" "failure to thrive and several episodes of feverwithout apparent causes" "" "" "" "" "" "" "cataract and inner retinal dysfunction" "" "0000305723" "04214" "00413758" "00000" "Unknown" "9y" "hypogammaglobulinemia; profound sensorineural hearing loss; right cochlear implant surgery was performed at 3 years; dense right cataract was noted at 2 years; a mild left, posterior subcapsular cataract became dense over 2 months; BCVA: 20/25 OD and 20/20 OS" "4m" "" "" "" "" "" "" "" "" "cataract and inner retinal dysfunction" "" "0000310845" "00198" "00419564" "02300" "Familial, autosomal recessive" "7y" "" "" "" "" "" "" "" "" "" "" "ocular/auditory abnormality" "" "0000310933" "00198" "00419652" "02300" "Isolated (sporadic)" "8y" "sensorineural hearing loss, cardiomyopathy, pulmonary stenosis, sudden cardiac death" "" "" "" "" "" "" "" "" "" "cardio and/or vascular abnormality" "" "0000310936" "00198" "00419655" "02300" "Unknown" "1y" "" "" "" "" "" "" "" "" "" "" "dermatological abnormality" "" "0000319187" "03171" "00428282" "04147" "Familial, autosomal recessive" "" "non-syndromic hearing impairment" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319197" "00531" "00428292" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319198" "00531" "00428293" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319199" "00531" "00428294" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319200" "00531" "00428295" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319201" "00531" "00428296" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319202" "00531" "00428297" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319203" "00531" "00428298" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319204" "00531" "00428299" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319205" "00531" "00428300" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319206" "00531" "00428301" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319207" "00531" "00428302" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319208" "00531" "00428303" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319209" "00531" "00428304" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319210" "00531" "00428305" "04147" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFN1B" "non-syndromic hearing impairment" "" "0000319554" "01745" "00428306" "00006" "Familial, autosomal recessive" "02y" "HP:0011476" "01y" "02y" "HP:0011476" "" "" "" "" "" "DFNB1A" "hearing loss" "" "0000319598" "01403" "00428699" "04147" "Isolated (sporadic)" "05y" "Keratoderma of the soles (HP:0000982), chronic otitis externa (HP:0000389), Hypohidrosis (HP:0000966), normal psychomotor development (-HP:0001263), Thickened skin (HP:0001072), Xeroderma pigmentosum (ORPHA:910), aged facial appearance (HP:0005328), hypotrichosis (HP:0008070), Hyperkeratosis (HP:0000962), Photophobia (HP:0000613), Reduced visual acuity (HP:0007663), Dental dysplasia, Epidermal acanthosis (HP:0025092)" "" "02y" "ORPHA:477" "" "" "" "" "" "KIDAD" "KID syndrome" "" "0000319599" "01403" "00428700" "04147" "Isolated (sporadic)" "02y" "Thickened skin (HP:0001072), Dry skin HP:0000958, Ichthyosis HP:0008064, Alopecia HP:0001596, absent eyelashes HP:0200102, Aplasia of the eyebrow HP:0100840, Photophobia HP:0000613," "" "02y" "ORPHA:477" "" "" "" "" "" "KIDAD" "KID syndrome" "" "0000319623" "01745" "00428724" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0000407" "" "" "" "" "" "DFNB1A" "Non-syndromic hearing impairment" "" "0000325280" "05121" "00435042" "00006" "Familial, autosomal recessive" "27y" "see paper for extensive description" "" "" "" "" "" "" "" "" "LGMDR23" "muscular dystrophy" "" "0000325281" "00161" "00435042" "00006" "Familial, X-linked dominant" "27y" "see paper" "" "" "" "" "" "" "" "" "IP" "incontinentia pigmenti" "" "0000325282" "05976" "00435042" "00006" "Familial, autosomal dominant" "27y" "see paper" "" "" "" "" "" "" "" "" "STHAG4" "tooth agenesis" "" "0000330554" "06877" "00132291" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNA73" "autosomal dominant non-syndromic hearing loss" "" "0000330563" "05086" "00441123" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330564" "05086" "00441124" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330565" "05086" "00441125" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330566" "05086" "00441126" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330567" "05086" "00441127" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330568" "05086" "00441128" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330569" "05086" "00441129" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330634" "05086" "00441194" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330635" "05086" "00441195" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330636" "05086" "00441196" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330637" "05086" "00441197" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330638" "05086" "00441198" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330639" "05086" "00441199" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330640" "05086" "00441200" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330641" "05086" "00441201" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330642" "05086" "00441202" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330643" "05086" "00441203" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330644" "05086" "00441204" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330645" "05086" "00441205" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330646" "05086" "00441206" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330647" "05086" "00441207" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330648" "05086" "00441208" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330649" "05086" "00441209" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330650" "05086" "00441210" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330651" "05086" "00441211" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330652" "05086" "00441212" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330653" "05086" "00441213" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330654" "05086" "00441214" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330655" "05086" "00441215" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330656" "05086" "00441216" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330657" "05086" "00441217" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330658" "05086" "00441218" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330659" "05086" "00441219" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330660" "05086" "00441220" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330661" "05086" "00441221" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330662" "05086" "00441222" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330663" "05086" "00441223" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330664" "05086" "00441224" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330665" "05086" "00441225" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330666" "05086" "00441226" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330667" "05086" "00441227" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330668" "05086" "00441228" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330669" "05086" "00441229" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330670" "05086" "00441230" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330671" "05086" "00441231" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330672" "05086" "00441232" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330673" "05086" "00441233" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330674" "05086" "00441234" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330675" "05086" "00441235" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330676" "05086" "00441236" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330677" "05086" "00441237" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330678" "05086" "00441238" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330679" "05086" "00441239" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330680" "05086" "00441240" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330681" "05086" "00441241" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330682" "05086" "00441242" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330683" "05086" "00441243" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330684" "05086" "00441244" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330685" "05086" "00441245" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330974" "05086" "00441536" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000330975" "05086" "00441537" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000330976" "05086" "00441538" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000331024" "05086" "00441615" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331025" "05086" "00441616" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331026" "05086" "00441617" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331027" "05086" "00441618" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331028" "05086" "00441619" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331029" "05086" "00441620" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331030" "05086" "00441621" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331031" "05086" "00441622" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331032" "05086" "00441623" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000336315" "00198" "00447116" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000346260" "05611" "00457811" "00006" "Isolated (sporadic)" "02y" "see paper; ..., birth weight ≤2SD; motor delay; delayed speech/ language development; no intellectual disability; MRI brain abnormal; no broad forehead; no facial asymmetry; no broad nasal tip; no thick lower lip vermilion; pointed chin; no ear abnormality; no eye abnormalities; skeletal abnormalities; large open spinal dysraphism; bladder/bowel incontinence" "" "" "" "" "" "" "" "" "GADEVS" "facial dysmorphism, mildly delayed motor/speech development" "" "0000351109" "05086" "00465561" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351110" "05086" "00465562" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351111" "05086" "00465563" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351112" "05086" "00465564" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351113" "05086" "00465565" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351114" "05086" "00465566" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351115" "05086" "00465567" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351116" "05086" "00465568" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351117" "05086" "00465569" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351118" "05086" "00465570" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351119" "05086" "00465571" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351120" "05086" "00465572" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 323 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000024111" "00024124" "1" "00810" "00810" "2014-10-27 19:31:28" "" "" "SEQ" "DNA" "" "" "0000024112" "00024125" "1" "00810" "00810" "2014-10-27 19:56:21" "" "" "SEQ" "DNA" "" "" "0000024113" "00024126" "1" "00810" "00810" "2014-10-27 20:19:30" "" "" "SEQ" "DNA" "" "" "0000024118" "00024131" "1" "00006" "00006" "2014-10-31 14:39:52" "" "" "SEQ" "DNA" "" "" "0000043997" "00043755" "1" "00006" "00006" "2015-06-18 08:56:23" "" "" "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" "" "" "0000044008" "00043764" "1" "00006" "00006" "2015-06-19 10:51:43" "" "" "SEQ" "DNA" "" "" "0000046720" "00046611" "1" "00006" "00006" "2015-07-21 21:22:09" "" "" "SEQ" "DNA" "" "" "0000050543" "00050598" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059117" "00059144" "1" "01551" "01551" "2016-02-29 10:02:55" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060243" "00060258" "1" "01542" "01542" "2016-03-22 12:13:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060244" "00060259" "1" "01542" "01542" "2016-03-22 12:31:09" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000080104" "00080025" "1" "01740" "01740" "2016-09-01 12:40:19" "" "" "SEQ-NG" "DNA" "" "" "0000080105" "00080026" "1" "01740" "01740" "2016-09-01 12:41:56" "" "" "SEQ-NG" "DNA" "" "" "0000080107" "00080028" "1" "01740" "01740" "2016-09-01 12:48:34" "" "" "SEQ-NG" "DNA" "" "" "0000080118" "00080039" "1" "01740" "01740" "2016-09-01 13:39:59" "" "" "SEQ-NG" "DNA" "" "" "0000080124" "00080045" "1" "01740" "01740" "2016-09-01 13:49:30" "" "" "SEQ-NG" "DNA" "" "" "0000080125" "00080046" "1" "01740" "01740" "2016-09-01 13:51:03" "" "" "SEQ-NG" "DNA" "" "" "0000080128" "00080049" "1" "01740" "01740" "2016-09-01 13:57:20" "" "" "SEQ-NG" "DNA" "" "" "0000080130" "00080051" "1" "01740" "01740" "2016-09-01 14:00:02" "" "" "SEQ-NG" "DNA" "" "" "0000080136" "00080057" "1" "01740" "01740" "2016-09-01 14:12:04" "" "" "SEQ-NG" "DNA" "" "" "0000081184" "00081072" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000092383" "00092242" "1" "00006" "00006" "2016-12-16 19:09:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104496" "00104025" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000117693" "00117226" "1" "00110" "00110" "2017-08-16 12:13:33" "00110" "2017-08-16 15:12:51" "SEQ" "DNA" "" "" "0000117694" "00117227" "1" "00110" "00110" "2017-08-16 12:23:48" "" "" "SEQ" "DNA" "" "" "0000117695" "00117228" "1" "00110" "00110" "2017-08-16 15:06:52" "" "" "SEQ" "DNA" "" "" "0000117696" "00117229" "1" "00110" "00110" "2017-08-16 15:11:04" "" "" "SEQ" "DNA" "" "" "0000117697" "00117230" "1" "00110" "00110" "2017-08-16 15:18:20" "" "" "SEQ" "DNA" "" "" "0000117698" "00117231" "1" "00110" "00110" "2017-08-16 15:22:21" "" "" "SEQ" "DNA" "" "" "0000117699" "00117232" "1" "00110" "00110" "2017-08-16 15:27:15" "" "" "SEQ" "DNA" "" "" "0000117700" "00117233" "1" "00110" "00110" "2017-08-16 15:31:44" "" "" "SEQ" "DNA" "" "" "0000117701" "00117234" "1" "00110" "00110" "2017-08-16 15:44:54" "" "" "SEQ" "DNA" "" "" "0000117702" "00117235" "1" "00110" "00110" "2017-08-16 15:47:42" "" "" "SEQ" "DNA" "" "" "0000117703" "00117236" "1" "00110" "00110" "2017-08-16 15:50:14" "" "" "SEQ" "DNA" "" "" "0000117704" "00117237" "1" "00110" "00110" "2017-08-16 15:57:25" "" "" "SEQ" "DNA" "" "" "0000117705" "00117238" "1" "00110" "00110" "2017-08-16 16:05:56" "" "" "SEQ" "DNA" "" "" "0000117706" "00117239" "1" "00110" "00110" "2017-08-16 16:10:19" "" "" "SEQ" "DNA" "" "" "0000117707" "00117240" "1" "00110" "00110" "2017-08-16 16:13:09" "" "" "SEQ" "DNA" "" "" "0000117708" "00117241" "1" "00110" "00110" "2017-08-16 16:16:00" "" "" "SEQ" "DNA" "" "" "0000117709" "00117242" "1" "00110" "00110" "2017-08-16 16:20:41" "" "" "SEQ" "DNA" "" "" "0000117710" "00117243" "1" "00110" "00110" "2017-08-16 16:24:54" "" "" "SBE" "DNA" "" "" "0000117711" "00117244" "1" "00110" "00110" "2017-08-16 16:28:35" "" "" "SEQ" "DNA" "" "" "0000117712" "00117245" "1" "00110" "00110" "2017-08-16 16:32:09" "" "" "SEQ" "DNA" "" "" "0000117713" "00117246" "1" "00110" "00110" "2017-08-16 16:36:15" "" "" "SEQ" "DNA" "" "" "0000117714" "00117247" "1" "00110" "00110" "2017-08-16 16:42:16" "" "" "SEQ" "DNA" "" "" "0000117715" "00117248" "1" "00110" "00110" "2017-08-16 16:48:23" "" "" "SEQ" "DNA" "" "" "0000117716" "00117249" "1" "00110" "00110" "2017-08-16 16:53:05" "" "" "SEQ" "DNA" "" "" "0000117717" "00117250" "1" "00110" "00110" "2017-08-16 17:10:19" "" "" "SEQ" "DNA" "" "" "0000117718" "00117251" "1" "00110" "00110" "2017-08-16 17:25:48" "" "" "SEQ" "DNA" "" "" "0000117719" "00117252" "1" "00110" "00110" "2017-08-16 17:28:17" "" "" "SEQ" "DNA" "" "" "0000117720" "00117253" "1" "00110" "00110" "2017-08-16 17:31:27" "" "" "SEQ" "DNA" "" "" "0000117721" "00117254" "1" "00110" "00110" "2017-08-16 17:36:09" "" "" "SEQ" "DNA" "" "" "0000117722" "00117255" "1" "00110" "00110" "2017-08-16 17:42:43" "" "" "SEQ" "DNA" "" "" "0000117723" "00117256" "1" "00110" "00110" "2017-08-16 17:46:53" "" "" "SEQ" "DNA" "" "" "0000117724" "00117257" "1" "00110" "00110" "2017-08-16 17:49:12" "" "" "SEQ" "DNA" "" "" "0000117725" "00117258" "1" "00110" "00110" "2017-08-16 17:51:26" "" "" "SEQ" "DNA" "" "" "0000117726" "00117259" "1" "00110" "00110" "2017-08-16 17:54:37" "" "" "SEQ" "DNA" "" "" "0000117727" "00117260" "1" "00110" "00110" "2017-08-16 17:57:52" "" "" "SEQ" "DNA" "" "" "0000117728" "00117261" "1" "00110" "00110" "2017-08-16 18:04:38" "" "" "SEQ" "DNA" "" "" "0000117729" "00117262" "1" "00110" "00110" "2017-08-16 18:08:10" "" "" "SEQ" "DNA" "" "" "0000117730" "00117263" "1" "00110" "00110" "2017-08-16 18:11:08" "" "" "SEQ" "DNA" "" "" "0000117731" "00117264" "1" "00110" "00110" "2017-08-16 18:16:20" "" "" "SEQ" "DNA" "" "" "0000117733" "00117265" "1" "00110" "00110" "2017-08-16 18:21:17" "" "" "SEQ" "DNA" "" "" "0000117734" "00117266" "1" "00110" "00110" "2017-08-16 18:23:31" "" "" "SEQ" "DNA" "" "" "0000117735" "00117267" "1" "00110" "00110" "2017-08-17 08:58:43" "" "" "SEQ" "DNA" "" "" "0000117736" "00117268" "1" "00110" "00110" "2017-08-17 09:02:40" "" "" "SEQ" "DNA" "" "" "0000117737" "00117269" "1" "00110" "00110" "2017-08-17 09:58:00" "" "" "SEQ" "DNA" "" "" "0000117738" "00117270" "1" "00110" "00110" "2017-08-17 10:10:47" "" "" "SEQ" "DNA" "" "" "0000117739" "00117271" "1" "00110" "00110" "2017-08-17 10:13:26" "" "" "SEQ" "DNA" "" "" "0000117740" "00117272" "1" "00110" "00110" "2017-08-17 10:16:45" "" "" "SEQ" "DNA" "" "" "0000117741" "00117273" "1" "00110" "00110" "2017-08-17 10:19:01" "" "" "SEQ" "DNA" "" "" "0000117742" "00117274" "1" "00110" "00110" "2017-08-17 10:23:56" "" "" "SEQ" "DNA" "" "" "0000117746" "00117278" "1" "00110" "00110" "2017-08-17 11:21:16" "00110" "2017-08-17 11:25:09" "SEQ;SEQ-NG-I" "DNA" "" "gene panel" "0000117755" "00117287" "1" "00110" "00110" "2017-08-17 12:31:05" "00006" "2020-09-25 08:53:39" "QMPSF;SEQ;SEQ-NG-I" "DNA" "" "gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments" "0000133127" "00132291" "1" "00088" "00088" "2017-09-30 11:10:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000171677" "00170804" "1" "02416" "02416" "2017-08-16 11:56:41" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000182128" "00181170" "1" "02552" "02552" "2018-10-02 14:42:35" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000182140" "00181181" "1" "02476" "02476" "2018-10-02 15:20:07" "" "" "SEQ" "DNA" "blood" "" "0000182166" "00181208" "1" "02476" "02476" "2018-10-04 16:38:04" "" "" "SEQ" "DNA" "blood" "" "0000182168" "00181210" "1" "02476" "02476" "2018-10-04 17:07:00" "" "" "SEQ" "DNA" "blood" "" "0000182180" "00181222" "1" "02476" "02476" "2018-10-05 20:44:08" "" "" "SEQ" "DNA" "blood" "" "0000182475" "00181514" "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" "" "" "0000183916" "00182956" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183917" "00182957" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183918" "00182958" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183919" "00182959" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183920" "00182960" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183921" "00182961" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183922" "00182962" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183923" "00182963" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183924" "00182964" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183925" "00182965" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183926" "00182966" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183927" "00182967" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183928" "00182968" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183929" "00182969" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183930" "00182970" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183931" "00182971" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183932" "00182972" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183933" "00182973" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183934" "00182974" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183935" "00182975" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183936" "00182976" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183937" "00182977" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183938" "00182978" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183939" "00182979" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183940" "00182980" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183941" "00182981" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183942" "00182982" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183943" "00182983" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183944" "00182984" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183945" "00182985" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183946" "00182986" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183947" "00182987" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183949" "00182989" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183950" "00182990" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183951" "00182991" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183952" "00182992" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183953" "00182993" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183954" "00182994" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183955" "00182995" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183956" "00182996" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183957" "00182997" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183958" "00182998" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183959" "00182999" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183960" "00183000" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "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" "" "" "0000183970" "00183010" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183971" "00183011" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183972" "00183012" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183973" "00183013" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183974" "00183014" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183975" "00183015" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183977" "00183017" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183978" "00183018" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183979" "00183019" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183980" "00183020" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183981" "00183021" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183982" "00183022" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183983" "00183023" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183984" "00183024" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183985" "00183025" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183986" "00183026" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183988" "00183028" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183989" "00183029" "1" "02476" "00006" "2018-10-12 13:45:12" "" "" "SEQ" "DNA" "" "" "0000183990" "00183030" "1" "02476" "00006" "2018-10-12 14:27:44" "" "" "SEQ" "DNA" "" "" "0000183991" "00183031" "1" "02476" "00006" "2018-10-12 14:27:44" "" "" "SEQ" "DNA" "" "" "0000183992" "00183032" "1" "02476" "00006" "2018-10-12 14:27:44" "" "" "SEQ" "DNA" "" "" "0000183993" "00183033" "1" "02476" "00006" "2018-10-12 14:27:44" "" "" "SEQ" "DNA" "" "" "0000183995" "00183035" "1" "02476" "00006" "2018-10-12 14:27:44" "" "" "SEQ" "DNA" "" "" "0000183996" "00183036" "1" "02476" "00006" "2018-10-12 14:27:44" "" "" "SEQ" "DNA" "" "" "0000183999" "00183039" "1" "02476" "00006" "2018-10-12 14:45:33" "" "" "SEQ" "DNA" "" "" "0000184000" "00183040" "1" "02476" "00006" "2018-10-12 14:49:19" "" "" "SEQ" "DNA" "" "" "0000184001" "00183041" "1" "02476" "00006" "2018-10-12 14:51:35" "" "" "SEQ" "DNA" "" "" "0000184002" "00183042" "1" "02476" "00006" "2018-10-12 14:54:03" "" "" "SEQ" "DNA" "" "" "0000230969" "00229874" "1" "02476" "02476" "2019-04-11 15:17:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000292013" "00290845" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292014" "00290846" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292015" "00290847" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292016" "00290848" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292017" "00290849" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292018" "00290850" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292019" "00290851" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292020" "00290852" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292021" "00290853" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292022" "00290854" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296426" "00295258" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296427" "00295259" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296630" "00295462" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297087" "00295915" "1" "01164" "01164" "2020-03-30 10:43:58" "" "" "SEQ-NG-S" "DNA" "" "" "0000297126" "00295954" "1" "03607" "03607" "2020-03-30 14:05:21" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000305522" "00304393" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309885" "00308740" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000311010" "00309866" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000311015" "00309871" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316792" "00315612" "1" "03808" "03808" "2013-12-31 09:01:53" "" "" "SEQ" "DNA" "" "" "0000329752" "00328537" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" "" "0000329753" "00328538" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" "" "0000329754" "00328539" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" "" "0000329755" "00328540" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" "" "0000329756" "00328541" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" "" "0000329757" "00328542" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" "" "0000329758" "00328543" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" "" "0000329759" "00328544" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" "" "0000329760" "00328545" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" "" "0000329761" "00328546" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ" "DNA" "" "" "0000360063" "00358833" "1" "04006" "04006" "2021-03-15 16:36:53" "" "" "SEQ" "DNA" "Blood" "" "0000363132" "00361904" "1" "03219" "03219" "2021-04-12 06:53:23" "" "" "SEQ-NG" "DNA" "" "" "0000398641" "00397401" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000398653" "00397413" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000400824" "00399581" "1" "00000" "03840" "2022-01-22 15:47:40" "" "" "SEQ" "DNA" "DNA" "" "0000411823" "00410558" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ" "DNA" "" "targeted gene analysis" "0000413562" "00412290" "1" "00006" "00006" "2022-06-27 11:19:41" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000413735" "00412465" "1" "00006" "00006" "2022-06-29 09:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414062" "00412788" "1" "04277" "04277" "2022-07-04 23:35:04" "" "" "-" "DNA" "Blood" "Cicle sequencing and PCR methods." "0000415036" "00413756" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000415038" "00413758" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000416466" "00415184" "1" "04277" "00006" "2022-08-09 15:06:46" "" "" "SEQ" "DNA" "blood" "cicle sequencing and PCR" "0000420868" "00419564" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420956" "00419652" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420959" "00419655" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429693" "00428282" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429703" "00428292" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429704" "00428293" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429705" "00428294" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429706" "00428295" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429707" "00428296" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429708" "00428297" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429709" "00428298" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429710" "00428299" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429711" "00428300" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429712" "00428301" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429713" "00428302" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429714" "00428303" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429715" "00428304" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429716" "00428305" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429717" "00428306" "1" "04147" "04147" "2022-12-30 11:55:56" "" "" "SEQ" "DNA" "Blood" "" "0000429718" "00428307" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000429719" "00428308" "1" "04147" "04147" "2022-12-30 00:57:05" "" "" "SEQ" "DNA" "Blood" "" "0000430112" "00428699" "1" "04147" "04147" "2023-01-07 15:59:15" "" "" "SEQ" "DNA" "Blood" "" "0000430113" "00428700" "1" "04147" "04147" "2023-01-07 16:20:28" "" "" "SEQ" "DNA" "Blood" "" "0000430138" "00428724" "1" "04147" "04147" "2023-01-09 13:44:36" "" "" "SEQ" "DNA" "Blood" "" "0000436513" "00435042" "1" "00006" "00006" "2023-05-01 16:38:52" "00006" "2023-05-01 17:07:39" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WE, WGS" "0000442608" "00441123" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442609" "00441124" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442610" "00441125" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442611" "00441126" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442612" "00441127" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442613" "00441128" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442614" "00441129" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442680" "00441194" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442681" "00441195" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442682" "00441196" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442683" "00441197" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442684" "00441198" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442685" "00441199" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442686" "00441200" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442687" "00441201" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442688" "00441202" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442689" "00441203" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442690" "00441204" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442691" "00441205" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442692" "00441206" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442693" "00441207" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442694" "00441208" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442695" "00441209" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442696" "00441210" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442697" "00441211" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442698" "00441212" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442699" "00441213" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442700" "00441214" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442701" "00441215" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442702" "00441216" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442703" "00441217" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442704" "00441218" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442705" "00441219" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442706" "00441220" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442707" "00441221" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442708" "00441222" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442709" "00441223" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442710" "00441224" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442711" "00441225" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442712" "00441226" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442713" "00441227" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442714" "00441228" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442715" "00441229" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442716" "00441230" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442717" "00441231" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442718" "00441232" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442719" "00441233" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442720" "00441234" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442721" "00441235" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442722" "00441236" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442723" "00441237" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442724" "00441238" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442725" "00441239" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442726" "00441240" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442727" "00441241" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442728" "00441242" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442729" "00441243" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442730" "00441244" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442731" "00441245" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443022" "00441536" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443023" "00441537" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443024" "00441538" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443101" "00441615" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443102" "00441616" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443103" "00441617" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443104" "00441618" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443105" "00441619" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443106" "00441620" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443107" "00441621" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443108" "00441622" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443109" "00441623" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448693" "00447116" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000459431" "00457811" "1" "00006" "00006" "2024-11-19 15:24:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000467210" "00465561" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467211" "00465562" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467212" "00465563" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467213" "00465564" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467214" "00465565" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467215" "00465566" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467216" "00465567" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467217" "00465568" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467218" "00465569" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467219" "00465570" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467220" "00465571" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467221" "00465572" "1" "00006" "00006" "2025-05-19 19:54:25" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 218 "{{screeningid}}" "{{geneid}}" "0000024111" "GJB2" "0000024112" "GJB2" "0000024113" "GJB2" "0000024118" "GJB2" "0000043997" "GJB2" "0000043997" "GJB6" "0000043999" "CRYL1" "0000043999" "GJB2" "0000043999" "GJB6" "0000044006" "GJB2" "0000044006" "GJB6" "0000044007" "GJB2" "0000044007" "GJB6" "0000044008" "GJB2" "0000046720" "GJB2" "0000046720" "NMNAT1" "0000050543" "GJB2" "0000059117" "GJB2" "0000081184" "GJB2" "0000092383" "GJB2" "0000092383" "NPL" "0000117693" "GJB2" "0000117694" "GJB2" "0000117695" "GJB2" "0000117696" "GJB2" "0000117697" "GJB2" "0000117698" "GJB2" "0000117699" "GJB2" "0000117700" "GJB2" "0000117701" "GJB2" "0000117702" "GJB2" "0000117703" "GJB2" "0000117704" "GJB2" "0000117704" "GJB6" "0000117705" "GJB2" "0000117706" "GJB2" "0000117707" "GJB2" "0000117708" "GJB2" "0000117709" "GJB2" "0000117710" "GJB2" "0000117711" "GJB2" "0000117712" "GJB2" "0000117712" "GJB6" "0000117713" "GJB2" "0000117714" "GJB2" "0000117715" "GJB2" "0000117716" "GJB2" "0000117717" "GJB2" "0000117718" "GJB2" "0000117719" "GJB2" "0000117720" "GJB2" "0000117721" "GJB2" "0000117722" "GJB2" "0000117723" "GJB2" "0000117724" "GJB2" "0000117725" "GJB2" "0000117726" "GJB2" "0000117727" "GJB2" "0000117728" "GJB2" "0000117729" "GJB2" "0000117730" "GJB2" "0000117731" "GJB2" "0000117733" "GJB2" "0000117734" "GJB2" "0000117735" "GJB2" "0000117736" "GJB2" "0000117737" "GJB2" "0000117738" "GJB2" "0000117739" "GJB2" "0000117740" "GJB2" "0000117741" "GJB2" "0000117742" "GJB2" "0000117746" "GJB2" "0000117746" "OTOA" "0000117755" "GJB2" "0000117755" "STRC" "0000133127" "PTPRQ" "0000182140" "GJB2" "0000182166" "GJB2" "0000182168" "GJB2" "0000182180" "GJB2" "0000182475" "GJB6" "0000182477" "GJB6" "0000182478" "GJB6" "0000182479" "GJB6" "0000183916" "GJB2" "0000183917" "GJB2" "0000183918" "GJB2" "0000183919" "GJB2" "0000183920" "GJB2" "0000183921" "GJB2" "0000183922" "GJB2" "0000183923" "GJB2" "0000183924" "GJB2" "0000183925" "GJB2" "0000183926" "GJB2" "0000183927" "GJB2" "0000183928" "GJB2" "0000183929" "GJB2" "0000183930" "GJB2" "0000183931" "GJB2" "0000183932" "GJB2" "0000183933" "GJB2" "0000183934" "GJB2" "0000183935" "GJB2" "0000183936" "GJB2" "0000183937" "GJB2" "0000183938" "GJB2" "0000183939" "GJB2" "0000183940" "GJB2" "0000183941" "GJB2" "0000183942" "GJB2" "0000183943" "GJB2" "0000183944" "GJB2" "0000183945" "GJB2" "0000183946" "GJB2" "0000183947" "GJB2" "0000183949" "GJB2" "0000183950" "GJB2" "0000183951" "GJB2" "0000183952" "GJB2" "0000183953" "GJB2" "0000183954" "GJB2" "0000183955" "GJB2" "0000183956" "GJB2" "0000183957" "GJB2" "0000183958" "GJB2" "0000183959" "GJB2" "0000183960" "GJB2" "0000183961" "GJB2" "0000183962" "GJB2" "0000183963" "GJB2" "0000183964" "GJB2" "0000183965" "GJB2" "0000183966" "GJB2" "0000183967" "GJB2" "0000183968" "GJB2" "0000183969" "GJB2" "0000183970" "GJB2" "0000183971" "GJB2" "0000183972" "GJB2" "0000183973" "GJB2" "0000183974" "GJB2" "0000183975" "GJB2" "0000183977" "GJB2" "0000183978" "GJB2" "0000183979" "GJB2" "0000183980" "GJB2" "0000183981" "GJB2" "0000183982" "GJB2" "0000183983" "GJB2" "0000183984" "GJB2" "0000183985" "GJB2" "0000183986" "GJB2" "0000183988" "GJB2" "0000183989" "GJB2" "0000183990" "GJB2" "0000183991" "GJB2" "0000183992" "GJB2" "0000183993" "GJB2" "0000183995" "GJB2" "0000183996" "GJB2" "0000183999" "GJB2" "0000184000" "GJB2" "0000184001" "GJB2" "0000184002" "GJB2" "0000230969" "GJB2" "0000297126" "GJB2" "0000309885" "GJB2" "0000311010" "GJB2" "0000311015" "GJB2" "0000316792" "MITF" "0000329752" "GJB2" "0000329753" "GJB2" "0000329754" "GJB2" "0000329755" "GJB2" "0000329756" "GJB2" "0000329757" "GJB2" "0000329758" "GJB2" "0000329759" "GJB2" "0000329760" "GJB2" "0000329761" "GJB2" "0000360063" "GJB2" "0000398641" "GJB2" "0000398653" "GJB2" "0000400824" "GJB2" "0000413562" "DMD" "0000413562" "SGCA" "0000413562" "SGCB" "0000413562" "SGCD" "0000413562" "SGCG" "0000414062" "GJB2" "0000415036" "TRNT1" "0000415038" "TRNT1" "0000416466" "GJB2" "0000429693" "GJB2" "0000429703" "GJB2" "0000429704" "GJB2" "0000429705" "GJB2" "0000429706" "GJB2" "0000429707" "GJB2" "0000429708" "GJB2" "0000429709" "GJB2" "0000429710" "GJB2" "0000429711" "GJB2" "0000429712" "GJB2" "0000429713" "GJB2" "0000429714" "GJB2" "0000429715" "GJB2" "0000429716" "GJB2" "0000429717" "GJB2" "0000429718" "GJB2" "0000429719" "GJB2" "0000430112" "GJB2" "0000430113" "GJB2" "0000430138" "GJB2" "0000436513" "LAMA2" "0000467221" "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 = 560 "{{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}}" "0000005257" "0" "50" "13" "20763341" "20763341" "subst" "0.0141638" "00037" "GJB2_000002" "g.20763341C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.20189202C>T" "" "VUS" "" "0000046548" "3" "99" "13" "20763650" "20763650" "subst" "0.00060873" "00810" "GJB2_000003" "g.20763650C>T" "" "" "" "" "" "Germline" "yes" "rs104894396" "0" "" "" "g.20189511C>T" "" "pathogenic" "" "0000046549" "3" "59" "13" "20763490" "20763490" "subst" "0.000146225" "00810" "GJB2_000004" "g.20763490C>T" "" "" "" "" "" "Germline" "yes" "rs80338944" "0" "" "" "g.20189351C>T" "" "VUS" "" "0000046550" "3" "99" "13" "20763691" "20763691" "del" "0" "00810" "GJB2_000001" "g.20763691del" "" "" "" "35delG" "" "Germline" "yes" "rs80338939" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000046555" "1" "99" "13" "20763691" "20763691" "dup" "0" "00006" "GJB2_000005" "g.20763691dup" "" "{PMID:Estivill 1998:09482292:}, {DOI:Estivill 1998:10.1016/S0140-6736(97)11124-2}" "" "35insG" "" "Germline" "yes" "" "0" "" "" "g.20189552dup" "" "pathogenic" "" "0000071784" "1" "99" "13" "20763691" "20763691" "del" "0" "00006" "GJB2_000001" "g.20763691del" "" "{PMID:del Castillo 2002:11807148}, {DOI:del Castillo 2002:10.1056/NEJMoa012052}" "" "35delG" "disease caused by di-genic inheritance" "Germline" "yes" "" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000071787" "1" "99" "13" "20763691" "20763691" "del" "0" "00006" "GJB2_000001" "g.20763691del" "" "{PMID:del Castillo 2005:15994881}, {DOI:del Castillo 2005:10.1136/jmg.2004.028324}" "" "" "disease caused by di-genic inheritance" "Germline" "?" "" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000071793" "11" "99" "13" "20763691" "20763691" "del" "0" "00006" "GJB2_000001" "g.20763691del" "" "{PMID:Lerer 2001:11668644}, {DOI:Lerer 2001:10.1002/humu.1222}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000071797" "11" "99" "13" "20763554" "20763554" "del" "0.000870775" "00006" "GJB2_000006" "g.20763554del" "" "{PMID:Lerer 2001:11668644}, {DOI:Lerer 2001:10.1002/humu.1222}" "" "167delT" "" "Germline" "yes" "" "0" "" "" "g.20189415del" "" "pathogenic" "" "0000071799" "1" "99" "13" "20763691" "20763691" "del" "0" "00006" "GJB2_000001" "g.20763691del" "" "{PMID:Lerer 2001:11668644}, {DOI:Lerer 2001:10.1002/humu.1222}" "" "35delG" "" "Germline" "yes" "" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000071800" "2" "99" "13" "20763554" "20763554" "del" "0.000870775" "00006" "GJB2_000006" "g.20763554del" "" "{PMID:Lerer 2001:11668644}, {DOI:Lerer 2001:10.1002/humu.1222}" "" "167delT" "" "Germline" "yes" "" "0" "" "" "g.20189415del" "" "pathogenic" "" "0000075167" "3" "99" "13" "20763650" "20763650" "subst" "0.00060873" "00006" "GJB2_000003" "g.20763650C>T" "" "{PMID:Falk 2012:22842227}, {DOI:Falk 2012:10.1038/ng.2361}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189511C>T" "" "pathogenic" "" "0000079523" "3" "00" "13" "20763691" "20763691" "del" "0" "00006" "GJB2_000007" "g.20763691del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "" "" "0000089914" "0" "50" "13" "20763593" "20763593" "subst" "0" "01551" "GJB2_000009" "g.20763593A>C" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.20189454A>C" "" "VUS" "" "0000091243" "3" "90" "13" "20763321" "20763321" "subst" "0" "01542" "GJB2_000008" "g.20763321A>G" "" "{PMID:Behar 2014:24367894}, {DOI:Behar 2014:10.1089/gtmb.2013.0328}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189182A>G" "" "pathogenic" "" "0000091306" "21" "90" "13" "20763321" "20763321" "subst" "0" "00006" "GJB2_000008" "g.20763321A>G" "" "{PMID:Behar 2014:24367894}, {DOI:Behar 2014:10.1089/gtmb.2013.0328}" "" "" "" "Germline" "" "" "0" "" "" "g.20189182A>G" "" "pathogenic" "" "0000128982" "1" "79" "13" "20763691" "20763691" "del" "0" "01740" "GJB2_000001" "g.20763691del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "likely pathogenic" "" "0000128983" "2" "79" "13" "20763650" "20763650" "subst" "0.00060873" "01740" "GJB2_000003" "g.20763650C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189511C>T" "" "likely pathogenic" "" "0000128984" "1" "79" "13" "20763691" "20763691" "del" "0" "01740" "GJB2_000001" "g.20763691del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "likely pathogenic" "" "0000128985" "2" "79" "13" "20763691" "20763691" "del" "0" "01740" "GJB2_000001" "g.20763691del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "likely pathogenic" "" "0000128988" "1" "70" "13" "20766921" "20766921" "subst" "0" "01740" "GJB2_000011" "g.20766921C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20192782C>T" "" "likely pathogenic" "" "0000128989" "2" "79" "13" "20763691" "20763691" "del" "0" "01740" "GJB2_000001" "g.20763691del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "likely pathogenic" "" "0000129009" "1" "70" "13" "20763620" "20763620" "subst" "0.00869409" "01740" "GJB2_000012" "g.20763620A>G" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189481A>G" "" "likely pathogenic" "" "0000129010" "2" "70" "13" "20763612" "20763612" "subst" "0.00736103" "01740" "GJB2_000013" "g.20763612C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189473C>T" "" "likely pathogenic" "" "0000129020" "1" "70" "13" "20763471" "20763471" "subst" "4.06283E-5" "01740" "GJB2_000014" "g.20763471C>G" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189332C>G" "" "likely pathogenic" "" "0000129021" "2" "70" "13" "20763452" "20763452" "subst" "0.000654285" "01740" "GJB2_000015" "g.20763452A>G" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189313A>G" "" "likely pathogenic" "" "0000129022" "1" "70" "13" "20763612" "20763612" "subst" "0.00736103" "01740" "GJB2_000013" "g.20763612C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189473C>T" "" "likely pathogenic" "" "0000129023" "2" "70" "13" "20763612" "20763612" "subst" "0.00736103" "01740" "GJB2_000013" "g.20763612C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189473C>T" "" "likely pathogenic" "" "0000129026" "1" "79" "13" "20763691" "20763691" "del" "0" "01740" "GJB2_000001" "g.20763691del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "likely pathogenic" "" "0000129027" "2" "70" "13" "20763620" "20763620" "subst" "0.00869409" "01740" "GJB2_000012" "g.20763620A>G" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189481A>G" "" "likely pathogenic" "" "0000129029" "1" "79" "13" "20763691" "20763691" "del" "0" "01740" "GJB2_000001" "g.20763691del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "likely pathogenic" "" "0000129030" "2" "70" "13" "20763210" "20763213" "dup" "0" "01740" "GJB2_000010" "g.20763210_20763213dup" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189071_20189074dup" "" "likely pathogenic" "" "0000129044" "1" "70" "13" "20763620" "20763620" "subst" "0.00869409" "01740" "GJB2_000012" "g.20763620A>G" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189481A>G" "" "likely pathogenic" "" "0000129045" "2" "70" "13" "20763612" "20763612" "subst" "0.00736103" "01740" "GJB2_000013" "g.20763612C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.20189473C>T" "" "likely pathogenic" "" "0000130270" "0" "70" "13" "20763689" "20763689" "subst" "0" "01758" "GJB2_000016" "g.20763689C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.20189550C>T" "" "likely pathogenic" "ACMG" "0000150685" "3" "90" "13" "20763612" "20763612" "subst" "0.00736103" "00006" "GJB2_000013" "g.20763612C>T" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "" "Germline" "" "" "0" "" "" "g.20189473C>T" "" "pathogenic" "" "0000169378" "0" "70" "13" "20763685" "20763686" "del" "0" "00587" "GJB2_000017" "g.20763685_20763686del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_004004.5(GJB2):c.38_39del p.(Val13Glufs*34)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.20189546_20189547del" "" "likely pathogenic" "" "0000188667" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188668" "0" "90" "13" "20763552" "20763552" "subst" "3.66277E-5" "00110" "GJB2_000029" "g.20763552G>A" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs111033297" "0" "" "" "g.20189413G>A" "" "pathogenic" "" "0000188669" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188671" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188672" "3" "70" "13" "20763612" "20763612" "subst" "0.00736103" "00110" "GJB2_000013" "g.20763612C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs72474224" "0" "" "" "g.20189473C>T" "" "likely pathogenic" "" "0000188673" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188674" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188675" "0" "90" "13" "20763387" "20763388" "del" "0" "00110" "GJB2_000019" "g.20763387_20763388del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "334_335delAA" "" "Germline/De novo (untested)" "" "rs756484720" "0" "" "" "g.20189248_20189249del" "" "pathogenic" "" "0000188676" "11" "70" "13" "20763452" "20763452" "subst" "0.000654285" "00110" "GJB2_000015" "g.20763452A>G" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs80338945" "0" "" "" "g.20189313A>G" "" "likely pathogenic" "" "0000188677" "21" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188678" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188679" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188680" "11" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188681" "11" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188682" "21" "90" "13" "20763256" "20763256" "subst" "4.06636E-6" "00110" "GJB2_000023" "g.20763256A>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs772264564" "0" "" "" "g.20189117A>T" "" "pathogenic" "" "0000188683" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188685" "11" "90" "13" "20763431" "20763431" "dup" "0" "00110" "GJB2_000030" "g.20763431dup" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "290dupA" "" "Germline" "yes" "rs786204491" "0" "" "" "g.20189292dup" "" "pathogenic" "" "0000188686" "21" "70" "13" "20763364" "20763366" "del" "0" "00110" "GJB2_000020" "g.20763364_20763366del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "358_360delGAG" "" "Germline" "yes" "rs80338947" "0" "" "" "g.20189225_20189227del" "" "likely pathogenic" "" "0000188687" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188688" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188689" "11" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188690" "21" "70" "13" "20763452" "20763452" "subst" "0.000654285" "00110" "GJB2_000015" "g.20763452A>G" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs80338945" "0" "" "" "g.20189313A>G" "" "likely pathogenic" "" "0000188691" "3" "90" "13" "20763650" "20763650" "subst" "0.00060873" "00110" "GJB2_000003" "g.20763650C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs104894396" "0" "" "" "g.20189511C>T" "" "pathogenic" "" "0000188692" "11" "90" "13" "20763552" "20763552" "subst" "3.66277E-5" "00110" "GJB2_000029" "g.20763552G>A" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs111033297" "0" "" "" "g.20189413G>A" "" "pathogenic" "" "0000188693" "21" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188694" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188696" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188697" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188698" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188699" "0" "90" "13" "20763582" "20763582" "subst" "0.000130373" "00110" "GJB2_000028" "g.20763582C>A" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs104894398" "0" "" "" "g.20189443C>A" "" "pathogenic" "" "0000188700" "3" "70" "13" "20763612" "20763612" "subst" "0.00736103" "00110" "GJB2_000013" "g.20763612C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs72474224" "0" "" "" "g.20189473C>T" "" "likely pathogenic" "" "0000188701" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188702" "0" "70" "13" "20763364" "20763366" "del" "0" "00110" "GJB2_000020" "g.20763364_20763366del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "358_360delGAG" "" "Germline/De novo (untested)" "" "rs80338947" "0" "" "" "g.20189225_20189227del" "" "likely pathogenic" "" "0000188703" "3" "70" "13" "20763612" "20763612" "subst" "0.00736103" "00110" "GJB2_000013" "g.20763612C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs72474224" "0" "" "" "g.20189473C>T" "" "likely pathogenic" "" "0000188704" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188705" "0" "90" "13" "20763720" "20763720" "subst" "3.68904E-5" "00110" "GJB2_000031" "g.20763720T>C" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs111033293" "0" "" "" "g.20189581T>C" "" "pathogenic" "" "0000188706" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188707" "11" "90" "13" "20763366" "20763369" "dup" "0" "00110" "GJB2_000018" "g.20763366_20763369dup" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189227_20189230dup" "" "pathogenic" "" "0000188708" "21" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188709" "11" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188710" "21" "90" "13" "20763397" "20763410" "del" "0" "00110" "GJB2_000026" "g.20763397_20763410del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs111033253" "0" "" "" "g.20189258_20189271del" "" "pathogenic" "" "0000188711" "11" "70" "13" "20763626" "20763626" "subst" "4.07784E-6" "00110" "GJB2_000032" "g.20763626C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs111033190" "0" "" "" "g.20189487C>T" "" "likely pathogenic" "" "0000188712" "21" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188713" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188714" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188715" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188716" "0" "70" "13" "20763104" "20763104" "subst" "9.76141E-5" "00110" "GJB2_000021" "g.20763104T>C" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs111033294" "0" "" "" "g.20188965T>C" "" "likely pathogenic" "" "0000188717" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188718" "0" "90" "13" "20766921" "20766921" "subst" "0" "00110" "GJB2_000011" "g.20766921C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs80338940" "0" "" "" "g.20192782C>T" "" "pathogenic" "" "0000188719" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188720" "3" "70" "13" "20763620" "20763620" "subst" "0.00869409" "00110" "GJB2_000012" "g.20763620A>G" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs35887622" "0" "" "" "g.20189481A>G" "" "likely pathogenic" "" "0000188721" "11" "70" "13" "20763612" "20763612" "subst" "0.00736103" "00110" "GJB2_000013" "g.20763612C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs72474224" "0" "" "" "g.20189473C>T" "" "likely pathogenic" "" "0000188722" "21" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188723" "11" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188724" "21" "90" "13" "20763387" "20763388" "del" "0" "00110" "GJB2_000019" "g.20763387_20763388del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "334_335delAA" "" "Germline" "yes" "rs756484720" "0" "" "" "g.20189248_20189249del" "" "pathogenic" "" "0000188725" "11" "70" "13" "20763170" "20763170" "subst" "5.28215E-5" "00110" "GJB2_000022" "g.20763170C>G" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs80338950" "0" "" "" "g.20189031C>G" "" "likely pathogenic" "" "0000188727" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188728" "11" "90" "13" "20763282" "20763282" "subst" "1.22053E-5" "00110" "GJB2_000024" "g.20763282C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189143C>T" "" "likely pathogenic" "" "0000188729" "21" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188730" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188731" "0" "70" "13" "20763452" "20763452" "subst" "0.000654285" "00110" "GJB2_000015" "g.20763452A>G" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs80338945" "0" "" "" "g.20189313A>G" "" "likely pathogenic" "" "0000188732" "11" "70" "13" "20763612" "20763612" "subst" "0.00736103" "00110" "GJB2_000013" "g.20763612C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs72474224" "0" "" "" "g.20189473C>T" "" "likely pathogenic" "" "0000188733" "21" "70" "13" "20763293" "20763293" "subst" "0" "00110" "GJB2_000025" "g.20763293C>A" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs104894401" "0" "" "" "g.20189154C>A" "" "likely pathogenic" "" "0000188734" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188735" "0" "70" "13" "20763620" "20763620" "subst" "0.00869409" "00110" "GJB2_000012" "g.20763620A>G" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs35887622" "0" "" "" "g.20189481A>G" "" "likely pathogenic" "" "0000188736" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188737" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188738" "3" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188739" "3" "90" "13" "20763582" "20763582" "subst" "0.000130373" "00110" "GJB2_000028" "g.20763582C>A" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs104894398" "0" "" "" "g.20189443C>A" "" "pathogenic" "" "0000188740" "11" "70" "13" "20763104" "20763104" "subst" "9.76141E-5" "00110" "GJB2_000021" "g.20763104T>C" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "rs111033294" "0" "" "" "g.20188965T>C" "" "likely pathogenic" "" "0000188741" "21" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline" "yes" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188748" "0" "90" "13" "20763691" "20763691" "del" "0" "00110" "GJB2_000001" "g.20763691del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "35delG" "" "Germline/De novo (untested)" "" "rs1801002" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000188763" "0" "70" "13" "20763602" "20763602" "subst" "4.07219E-6" "00110" "GJB2_000027" "g.20763602G>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs111033296" "0" "" "" "g.20189463G>T" "" "likely pathogenic" "" "0000254079" "0" "30" "13" "20763748" "20763748" "subst" "0.000492348" "01943" "GJB2_000047" "g.20763748A>G" "" "" "" "GJB2(NM_004004.6):c.-22-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189609A>G" "" "likely benign" "" "0000255535" "0" "90" "13" "20763452" "20763452" "subst" "0.000654285" "01943" "GJB2_000015" "g.20763452A>G" "" "" "" "GJB2(NM_004004.6):c.269T>C (p.L90P, p.(Leu90Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189313A>G" "" "pathogenic" "" "0000255642" "0" "90" "13" "20763492" "20763492" "subst" "4.06161E-5" "01943" "GJB2_000044" "g.20763492A>G" "" "" "" "GJB2(NM_004004.6):c.229T>C (p.W77R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189353A>G" "" "pathogenic" "" "0000256299" "0" "50" "13" "20763233" "20763233" "subst" "0" "01943" "GJB2_000036" "g.20763233A>C" "" "" "" "GJB2(NM_004004.6):c.488T>G (p.M163R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189094A>C" "" "VUS" "" "0000277289" "0" "10" "13" "20763264" "20763264" "subst" "0.00943926" "02330" "GJB2_000037" "g.20763264C>T" "" "" "" "GJB2(NM_004004.6):c.457G>A (p.V153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189125C>T" "" "benign" "" "0000277290" "0" "30" "13" "20763051" "20763051" "subst" "0.000127919" "02330" "GJB2_000033" "g.20763051T>G" "" "" "" "GJB2(NM_004004.6):c.670A>C (p.K224Q, p.(Lys224Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20188912T>G" "" "likely benign" "" "0000281041" "0" "30" "13" "20763710" "20763710" "subst" "0.000422034" "02325" "GJB2_000046" "g.20763710C>T" "" "" "" "GJB2(NM_004004.6):c.11G>A (p.G4D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189571C>T" "" "likely benign" "" "0000281042" "0" "10" "13" "20763380" "20763380" "subst" "0.0144131" "02325" "GJB2_000041" "g.20763380T>C" "" "" "" "GJB2(NM_004004.6):c.341A>G (p.E114G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189241T>C" "" "benign" "" "0000281043" "0" "30" "13" "20763642" "20763642" "subst" "0.053231" "02325" "GJB2_000045" "g.20763642C>T" "" "" "" "GJB2(NM_004004.6):c.79G>A (p.V27I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189503C>T" "" "likely benign" "" "0000283370" "0" "90" "13" "20763612" "20763612" "subst" "0.00736103" "02329" "GJB2_000013" "g.20763612C>T" "" "" "" "GJB2(NM_004004.6):c.109G>A (p.V37I, p.(Val37Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189473C>T" "" "pathogenic" "" "0000283371" "0" "90" "13" "20763582" "20763582" "subst" "0.000130373" "02329" "GJB2_000028" "g.20763582C>A" "" "" "" "GJB2(NM_004004.6):c.139G>T (p.E47*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189443C>A" "" "pathogenic" "" "0000288349" "0" "90" "13" "20766921" "20766921" "subst" "0" "01943" "GJB2_000011" "g.20766921C>T" "" "" "" "GJB2(NM_004004.6):c.-23+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20192782C>T" "" "pathogenic" "" "0000288350" "0" "30" "13" "20766944" "20766944" "subst" "0" "01943" "GJB2_000048" "g.20766944G>T" "" "" "" "GJB2(NM_004004.6):c.-45C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20192805G>T" "" "likely benign" "" "0000288351" "0" "90" "13" "20763612" "20763612" "subst" "0.00736103" "01943" "GJB2_000013" "g.20763612C>T" "" "" "" "GJB2(NM_004004.6):c.109G>A (p.V37I, p.(Val37Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189473C>T" "" "pathogenic" "" "0000288352" "0" "30" "13" "20763710" "20763710" "subst" "0.000422034" "01943" "GJB2_000046" "g.20763710C>T" "" "" "" "GJB2(NM_004004.6):c.11G>A (p.G4D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189571C>T" "" "likely benign" "" "0000288353" "0" "90" "13" "20763582" "20763582" "subst" "0.000130373" "01943" "GJB2_000028" "g.20763582C>A" "" "" "" "GJB2(NM_004004.6):c.139G>T (p.E47*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189443C>A" "" "pathogenic" "" "0000288354" "0" "90" "13" "20763490" "20763490" "subst" "0.000146225" "01943" "GJB2_000004" "g.20763490C>T" "" "" "" "GJB2(NM_004004.6):c.231G>A (p.W77*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189351C>T" "" "pathogenic" "" "0000288355" "0" "30" "13" "20763472" "20763472" "subst" "0.00164138" "01943" "GJB2_000043" "g.20763472G>C" "" "" "" "GJB2(NM_004004.6):c.249C>G (p.F83L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189333G>C" "" "likely benign" "" "0000288356" "0" "10" "13" "20763380" "20763380" "subst" "0.0144131" "01943" "GJB2_000041" "g.20763380T>C" "" "" "" "GJB2(NM_004004.6):c.341A>G (p.E114G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189241T>C" "" "benign" "" "0000288357" "0" "90" "13" "20763364" "20763366" "del" "0" "01943" "GJB2_000020" "g.20763364_20763366del" "" "" "" "GJB2(NM_004004.5):c.358_360delGAG (p.(Glu120del)), GJB2(NM_004004.6):c.358_360delGAG (p.E120del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189225_20189227del" "" "pathogenic" "" "0000288358" "0" "90" "13" "20763691" "20763691" "del" "0" "01943" "GJB2_000001" "g.20763691del" "" "" "" "GJB2(NM_004004.6):c.35del (p.(Gly12ValfsTer2)), GJB2(NM_004004.6):c.35delG (p.G12Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000288359" "0" "10" "13" "20763341" "20763341" "subst" "0.0141638" "01943" "GJB2_000002" "g.20763341C>T" "" "" "" "GJB2(NM_004004.6):c.380G>A (p.R127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189202C>T" "" "benign" "" "0000288360" "0" "70" "13" "20763305" "20763305" "subst" "0.000288937" "01943" "GJB2_000039" "g.20763305C>T" "" "" "" "GJB2(NM_004004.5):c.416G>A (p.(Ser139Asn)), GJB2(NM_004004.6):c.416G>A (p.S139N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189166C>T" "" "likely pathogenic" "" "0000288361" "0" "90" "13" "20763294" "20763294" "subst" "0.000118022" "01943" "GJB2_000038" "g.20763294G>A" "" "" "" "GJB2(NM_004004.6):c.427C>T (p.R143W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189155G>A" "" "pathogenic" "" "0000288362" "0" "10" "13" "20763264" "20763264" "subst" "0.00943926" "01943" "GJB2_000037" "g.20763264C>T" "" "" "" "GJB2(NM_004004.6):c.457G>A (p.V153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189125C>T" "" "benign" "" "0000288363" "0" "90" "13" "20763170" "20763170" "subst" "0" "01943" "GJB2_000035" "g.20763170C>T" "" "" "" "GJB2(NM_004004.6):c.551G>A (p.R184Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189031C>T" "" "pathogenic" "" "0000288364" "0" "50" "13" "20763074" "20763074" "subst" "3.27665E-5" "01943" "GJB2_000034" "g.20763074C>A" "" "" "" "GJB2(NM_004004.6):c.647G>T (p.R216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20188935C>A" "" "VUS" "" "0000288365" "0" "10" "13" "20763642" "20763642" "subst" "0.053231" "01943" "GJB2_000045" "g.20763642C>T" "" "" "" "GJB2(NM_004004.6):c.79G>A (p.V27I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189503C>T" "" "benign" "" "0000337460" "0" "10" "13" "20763726" "20763726" "subst" "0.000832254" "02327" "GJB2_000057" "g.20763726A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189587A>T" "" "benign" "" "0000337461" "0" "70" "13" "20763744" "20763744" "subst" "0.000607179" "02327" "GJB2_000058" "g.20763744T>G" "" "" "" "GJB2(NM_004004.6):c.-22-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189605T>G" "" "likely pathogenic" "" "0000337462" "0" "10" "13" "20763754" "20763754" "subst" "0.0172548" "02327" "GJB2_000059" "g.20763754G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189615G>A" "" "benign" "" "0000337463" "0" "30" "13" "20766910" "20766910" "subst" "0" "02327" "GJB2_000060" "g.20766910C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20192771C>T" "" "likely benign" "" "0000337464" "0" "30" "13" "20766934" "20766934" "subst" "0" "02327" "GJB2_000061" "g.20766934G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20192795G>A" "" "likely benign" "" "0000337465" "0" "10" "13" "20766944" "20766944" "subst" "0" "02327" "GJB2_000048" "g.20766944G>T" "" "" "" "GJB2(NM_004004.6):c.-45C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20192805G>T" "" "benign" "" "0000337466" "0" "10" "13" "20767026" "20767026" "subst" "0" "02327" "GJB2_000062" "g.20767026C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20192887C>G" "" "benign" "" "0000337467" "0" "30" "13" "20767104" "20767104" "subst" "0" "02327" "GJB2_000063" "g.20767104A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20192965A>C" "" "likely benign" "" "0000337468" "0" "10" "13" "20767115" "20767115" "subst" "0" "02327" "GJB2_000064" "g.20767115A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20192976A>C" "" "benign" "" "0000341828" "0" "30" "13" "20763341" "20763341" "subst" "0.0141638" "02327" "GJB2_000002" "g.20763341C>T" "" "" "" "GJB2(NM_004004.6):c.380G>A (p.R127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189202C>T" "" "likely benign" "" "0000341927" "0" "90" "13" "20763294" "20763294" "subst" "0.000118022" "02327" "GJB2_000038" "g.20763294G>A" "" "" "" "GJB2(NM_004004.6):c.427C>T (p.R143W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189155G>A" "" "pathogenic" "" "0000342124" "0" "90" "13" "20763170" "20763170" "subst" "0" "02327" "GJB2_000035" "g.20763170C>T" "" "" "" "GJB2(NM_004004.6):c.551G>A (p.R184Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189031C>T" "" "pathogenic" "" "0000342260" "0" "50" "13" "20763074" "20763074" "subst" "3.27665E-5" "02327" "GJB2_000034" "g.20763074C>A" "" "" "" "GJB2(NM_004004.6):c.647G>T (p.R216I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20188935C>A" "" "VUS" "" "0000343343" "0" "90" "13" "20763498" "20763498" "subst" "0" "02327" "GJB2_000053" "g.20763498G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189359G>A" "" "pathogenic" "" "0000344126" "0" "90" "13" "20763573" "20763573" "subst" "0" "02327" "GJB2_000054" "g.20763573C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189434C>T" "" "pathogenic" "" "0000344980" "0" "90" "13" "20763483" "20763483" "subst" "0" "02327" "GJB2_000051" "g.20763483G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189344G>T" "" "pathogenic" "" "0000345068" "0" "10" "13" "20763380" "20763380" "subst" "0.0144131" "02327" "GJB2_000041" "g.20763380T>C" "" "" "" "GJB2(NM_004004.6):c.341A>G (p.E114G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189241T>C" "" "benign" "" "0000345107" "0" "90" "13" "20763364" "20763366" "del" "0" "02327" "GJB2_000020" "g.20763364_20763366del" "" "" "" "GJB2(NM_004004.5):c.358_360delGAG (p.(Glu120del)), GJB2(NM_004004.6):c.358_360delGAG (p.E120del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189225_20189227del" "" "pathogenic" "" "0000345696" "0" "50" "13" "20763332" "20763332" "subst" "0" "02327" "GJB2_000070" "g.20763332C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189193C>A" "" "VUS" "" "0000345765" "0" "50" "13" "20763243" "20763243" "subst" "0.000569374" "02327" "GJB2_000069" "g.20763243C>T" "" "" "" "GJB2(NM_004004.6):c.478G>A (p.G160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189104C>T" "" "VUS" "" "0000345833" "0" "90" "13" "20763123" "20763123" "subst" "1.62562E-5" "02327" "GJB2_000066" "g.20763123C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20188984C>A" "" "pathogenic" "" "0000346352" "0" "70" "13" "20763422" "20763422" "subst" "0" "02327" "GJB2_000050" "g.20763422T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189283T>G" "" "likely pathogenic" "" "0000347340" "0" "90" "13" "20763452" "20763452" "subst" "0.000654285" "02327" "GJB2_000015" "g.20763452A>G" "" "" "" "GJB2(NM_004004.6):c.269T>C (p.L90P, p.(Leu90Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189313A>G" "" "pathogenic" "" "0000347364" "0" "90" "13" "20763397" "20763410" "del" "0" "02327" "GJB2_000026" "g.20763397_20763410del" "" "" "" "GJB2(NM_004004.6):c.313_326delAAGTTCATCAAGGG (p.K105Gfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189258_20189271del" "" "pathogenic" "" "0000347432" "0" "50" "13" "20763677" "20763677" "subst" "8.18545E-6" "02327" "GJB2_000056" "g.20763677T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189538T>G" "" "VUS" "" "0000347757" "0" "50" "13" "20763234" "20763234" "subst" "0.000146387" "02327" "GJB2_000068" "g.20763234T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189095T>C" "" "VUS" "" "0000347816" "0" "90" "13" "20763620" "20763620" "subst" "0.00869409" "02327" "GJB2_000012" "g.20763620A>G" "" "" "" "GJB2(NM_004004.6):c.101T>C (p.M34T, p.(Met34Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189481A>G" "" "pathogenic" "" "0000348097" "0" "30" "13" "20763472" "20763472" "subst" "0.00164138" "02327" "GJB2_000043" "g.20763472G>C" "" "" "" "GJB2(NM_004004.6):c.249C>G (p.F83L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189333G>C" "" "likely benign" "" "0000348710" "0" "70" "13" "20763305" "20763305" "subst" "0.000288937" "02327" "GJB2_000039" "g.20763305C>T" "" "" "" "GJB2(NM_004004.5):c.416G>A (p.(Ser139Asn)), GJB2(NM_004004.6):c.416G>A (p.S139N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189166C>T" "" "likely pathogenic" "" "0000349333" "0" "50" "13" "20763164" "20763164" "subst" "0" "02327" "GJB2_000067" "g.20763164G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189025G>T" "" "VUS" "" "0000349852" "0" "90" "13" "20763492" "20763492" "subst" "4.06161E-5" "02327" "GJB2_000044" "g.20763492A>G" "" "" "" "GJB2(NM_004004.6):c.229T>C (p.W77R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189353A>G" "" "pathogenic" "" "0000350314" "0" "10" "13" "20763264" "20763264" "subst" "0.00943926" "02327" "GJB2_000037" "g.20763264C>T" "" "" "" "GJB2(NM_004004.6):c.457G>A (p.V153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189125C>T" "" "benign" "" "0000350449" "0" "10" "13" "20763642" "20763642" "subst" "0.053231" "02327" "GJB2_000045" "g.20763642C>T" "" "" "" "GJB2(NM_004004.6):c.79G>A (p.V27I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189503C>T" "" "benign" "" "0000350677" "0" "90" "13" "20763471" "20763471" "subst" "4.06283E-5" "02327" "GJB2_000014" "g.20763471C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189332C>G" "" "pathogenic" "" "0000351013" "0" "90" "13" "20763170" "20763170" "subst" "5.28215E-5" "02327" "GJB2_000022" "g.20763170C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20189031C>G" "" "pathogenic" "" "0000351014" "0" "90" "13" "20766921" "20766921" "subst" "0" "02327" "GJB2_000011" "g.20766921C>T" "" "" "" "GJB2(NM_004004.6):c.-23+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20192782C>T" "" "pathogenic" "" "0000405959" "11" "90" "13" "20763691" "20763691" "del" "0" "02552" "GJB2_000001" "g.20763691del" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs80338939" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000405960" "21" "70" "13" "20763620" "20763620" "subst" "0.00869409" "02552" "GJB2_000012" "g.20763620A>G" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs35887622" "0" "" "" "g.20189481A>G" "" "likely pathogenic" "" "0000405980" "21" "90" "13" "20763489" "20763489" "subst" "0" "02476" "GJB2_000071" "g.20763489C>A" "singleton" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189350C>A" "" "pathogenic (recessive)" "" "0000405983" "10" "10" "13" "20763642" "20763642" "subst" "0.053231" "02476" "GJB2_000045" "g.20763642C>T" "0.04538" "{PMID:Dalamon 2013:24158611}" "" "g.8473G>A" "" "Germline/De novo (untested)" "no" "rs2274084" "0" "" "" "g.20189503C>T" "36279" "benign" "" "0000406040" "2" "70" "13" "20763152" "20763152" "subst" "0" "02476" "GJB2_000072" "g.20763152A>T" "" "{PMID:Dalamon 2013:24158611}" "" "g.8963T>A" "" "Unknown" "" "" "0" "" "" "g.20189013A>T" "" "likely pathogenic" "" "0000406042" "1" "99" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "" "{PMID:Dalamon 2013:24158611}" "" "g.8429delG" "" "Unknown" "?" "rs80338939" "0" "" "" "g.20189552del" "{CV:32043}" "pathogenic (recessive)" "" "0000406044" "11" "90" "13" "20763089" "20763089" "subst" "0" "02476" "GJB2_000073" "g.20763089C>T" "" "{PMID:Dalamon 2013:24158611}" "" "g.9026G>A" "" "Germline" "" "" "0" "" "" "g.20188950C>T" "" "pathogenic (recessive)" "" "0000406057" "11" "90" "13" "20763491" "20763491" "dup" "0" "02476" "GJB2_000074" "g.20763491dup" "" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189352dup" "553568" "pathogenic (recessive)" "" "0000406058" "21" "90" "13" "20763294" "20763294" "subst" "0.000118022" "02476" "GJB2_000038" "g.20763294G>A" "" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189155G>A" "17009" "pathogenic" "" "0000406359" "0" "10" "13" "20763642" "20763642" "subst" "0.053231" "02476" "GJB2_000045" "g.20763642C>T" "" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189503C>T" "" "benign" "" "0000406360" "0" "10" "13" "20763642" "20763642" "subst" "0.053231" "02476" "GJB2_000045" "g.20763642C>T" "" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189503C>T" "" "benign" "" "0000406366" "1" "90" "13" "20763612" "20763612" "subst" "0.00736103" "00006" "GJB2_000013" "g.20763612C>T" "" "{PMID:del Castillo 2005:15994881}" "" "V37I" "" "Germline" "" "" "0" "" "" "g.20189473C>T" "" "pathogenic (recessive)" "" "0000406368" "1" "90" "13" "20763691" "20763691" "del" "0" "00006" "GJB2_000001" "g.20763691del" "" "{PMID:del Castillo 2005:15994881}" "" "35delG" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000406369" "1" "90" "13" "20763691" "20763691" "del" "0" "00006" "GJB2_000001" "g.20763691del" "" "{PMID:del Castillo 2005:15994881}" "" "35delG" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000406370" "1" "90" "13" "20763612" "20763612" "subst" "0.00736103" "00006" "GJB2_000013" "g.20763612C>T" "" "{PMID:del Castillo 2005:15994881}" "" "V37I" "" "Germline" "" "" "0" "" "" "g.20189473C>T" "" "pathogenic (recessive)" "" "0000407805" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407806" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407807" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407808" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407809" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407810" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407811" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407812" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407813" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407814" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407815" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407816" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407817" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407818" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407819" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407820" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407821" "3" "79" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "26/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000407822" "3" "79" "13" "20763691" "20763691" 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"g.20763554del" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "167delT" "" "Germline" "" "" "0" "" "" "g.20189415del" "" "pathogenic (recessive)" "" "0000407910" "2" "70" "13" "20763554" "20763554" "del" "0.000870775" "02476" "GJB2_000006" "g.20763554del" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "167delT" "" "Germline" "" "" "0" "" "" "g.20189415del" "" "pathogenic (recessive)" "" "0000407911" "1" "70" "13" "20763170" "20763170" "subst" "5.28215E-5" "02476" "GJB2_000022" "g.20763170C>G" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189031C>G" "" "pathogenic (recessive)" "" "0000407912" "2" "70" "13" "20763554" "20763554" "del" "0.000870775" "02476" "GJB2_000006" "g.20763554del" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "167delT" "" "Germline" "" "" "0" "" "" "g.20189415del" "" "pathogenic (recessive)" "" "0000407913" "1" "70" "13" "20763397" "20763410" "del" "0" "02476" "GJB2_000026" "g.20763397_20763410del" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "313_326del14" "" "Germline" "" "" "0" "" "" "g.20189258_20189271del" "" "pathogenic (recessive)" "" "0000407914" "2" "70" "13" "20763471" "20763471" "subst" "4.06283E-5" "02476" "GJB2_000014" "g.20763471C>G" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189332C>G" "" "pathogenic (recessive)" "" "0000407915" "1" "70" "13" "20763686" "20763686" "subst" "8.60042E-5" "02476" "GJB2_000083" "g.20763686C>A" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189547C>A" "" "pathogenic (recessive)" "" "0000407916" "2" "70" "13" "20763438" "20763438" "subst" "4.87987E-5" "02476" "GJB2_000042" "g.20763438C>T" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189299C>T" "" "pathogenic (recessive)" "" "0000407917" "1" "70" "13" "20763104" "20763104" "subst" "9.76141E-5" "02476" "GJB2_000021" "g.20763104T>C" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000407918" "2" "70" "13" "20763104" "20763104" "subst" "9.76141E-5" "02476" "GJB2_000021" "g.20763104T>C" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000407919" "1" "70" "13" "20763364" "20763366" "del" "0" "02476" "GJB2_000020" "g.20763364_20763366del" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189225_20189227del" "" "pathogenic (recessive)" "" "0000407920" "2" "70" "13" "20763582" "20763582" "subst" "0.000130373" "02476" "GJB2_000028" "g.20763582C>A" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189443C>A" "" "pathogenic (recessive)" "" "0000407924" "2" "70" "13" "20763104" "20763104" "subst" "9.76141E-5" "02476" "GJB2_000021" "g.20763104T>C" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000407925" "1" "70" "13" "20763364" "20763366" "del" "0" "02476" "GJB2_000020" "g.20763364_20763366del" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189225_20189227del" "" "pathogenic (recessive)" "" "0000407926" "2" "70" "13" "20763397" "20763410" "del" "0" "02476" "GJB2_000026" "g.20763397_20763410del" "1/476 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189258_20189271del" "" "pathogenic (recessive)" "" "0000407927" "1" "30" "13" "20763697" "20763697" "subst" "4.50576E-5" "02476" "GJB2_000075" "g.20763697C>T" "1/74 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189558C>T" "" "likely benign" "" "0000407928" "0" "30" "13" "20763642" "20763642" "subst" "0.053231" "02476" "GJB2_000045" "g.20763642C>T" "70/124 chromosomes cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189503C>T" "" "likely benign" "" "0000407929" "1" "30" "13" "20763472" "20763472" "subst" "0.00164138" "02476" "GJB2_000043" "g.20763472G>C" "1/74 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189333G>C" "" "likely benign" "" "0000407930" "1" "30" "13" "20763341" "20763341" "subst" "0.0141638" "02476" "GJB2_000002" "g.20763341C>T" "1/74 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189202C>T" "" "likely benign" "" "0000407932" "1" "30" "13" "20763243" "20763243" "subst" "0.000569374" "02476" "GJB2_000069" "g.20763243C>T" "2/74 cases" "{PMID:Dalamon 2013:24158611}" "" "468G>A (Gly160Ser)" "" "Germline" "" "" "0" "" "" "g.20189104C>T" "" "likely benign" "" "0000407933" "1" "30" "13" "20763234" "20763234" "subst" "0.000146387" "02476" "GJB2_000068" "g.20763234T>C" "2/74 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189095T>C" "" "likely benign" "" "0000407934" "1" "90" "13" "20763692" "20763692" "subst" "0" "02476" "GJB2_000077" "g.20763692A>G" "" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189553A>G" "" "pathogenic (dominant)" "" "0000407935" "1" "90" "13" "20763498" "20763498" "subst" "0" "02476" "GJB2_000053" "g.20763498G>A" "" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189359G>A" "" "pathogenic (dominant)" "" "0000407936" "1" "90" "13" "20763497" "20763497" "subst" "0" "02476" "GJB2_000078" "g.20763497C>T" "" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189358C>T" "" "pathogenic (dominant)" "" "0000407937" "1" "90" "13" "20763234" "20763234" "subst" "0" "02476" "GJB2_000079" "g.20763234T>G" "" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189095T>G" "" "pathogenic (dominant)" "" "0000407938" "0" "30" "13" "20763642" "20763642" "subst" "0.053231" "02476" "GJB2_000045" "g.20763642C>T" "" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189503C>T" "" "likely benign" "" "0000407939" "0" "30" "13" "20763642" "20763642" "subst" "0.053231" "02476" "GJB2_000045" "g.20763642C>T" "" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189503C>T" "" "likely benign" "" "0000407940" "0" "30" "13" "20763337" "20763337" "subst" "0" "02476" "GJB2_000076" "g.20763337G>A" "1/74 cases" "{PMID:Dalamon 2013:24158611}" "" "" "" "Germline" "" "" "0" "" "" "g.20189198G>A" "" "likely benign" "" "0000472665" "0" "70" "13" "20763744" "20763744" "subst" "0.000607179" "02476" "GJB2_000058" "g.20763744T>G" "" "" "" "" "" "Germline" "?" "rs201895089" "0" "" "" "g.20189605T>G" "551912" "pathogenic (recessive)" "" "0000472670" "0" "90" "13" "20763691" "20763691" "del" "0" "02476" "GJB2_000001" "g.20763691del" "" "{CV:94392}" "" "35delG" "" "Germline" "?" "rs80338939" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000549912" "0" "30" "13" "20763039" "20763039" "subst" "0.000533124" "02327" "GJB2_000085" "g.20763039G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20188900G>A" "" "likely benign" "" "0000549913" "0" "10" "13" "20763113" "20763113" "subst" "0.00413388" "01943" "GJB2_000086" "g.20763113A>G" "" "" "" "GJB2(NM_004004.6):c.608T>C (p.I203T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20188974A>G" "" "benign" "" "0000549914" "0" "90" "13" "20763125" "20763125" "subst" "1.21907E-5" "02325" "GJB2_000087" "g.20763125G>A" "" "" "" "GJB2(NM_004004.6):c.596C>T (p.S199F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20188986G>A" "" "pathogenic" "" "0000549915" "0" "90" "13" "20763173" "20763173" "subst" "0" "02327" "GJB2_000088" "g.20763173G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189034G>A" "" "pathogenic" "" "0000549916" "0" "30" "13" "20763210" "20763210" "subst" "0.000122017" "01943" "GJB2_000089" "g.20763210C>T" "" "" "" "GJB2(NM_004004.6):c.511G>A (p.A171T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189071C>T" "" "likely benign" "" "0000549917" "0" "50" "13" "20763222" "20763222" "subst" "4.47362E-5" "02327" "GJB2_000090" "g.20763222C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189083C>T" "" "VUS" "" "0000549919" "0" "50" "13" "20763296" "20763296" "subst" "2.84803E-5" "02327" "GJB2_000092" "g.20763296A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189157A>G" "" "VUS" "" "0000549920" "0" "50" "13" "20763305" "20763305" "subst" "0.000288937" "01804" "GJB2_000039" "g.20763305C>T" "" "" "" "GJB2(NM_004004.5):c.416G>A (p.(Ser139Asn)), GJB2(NM_004004.6):c.416G>A (p.S139N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189166C>T" "" "VUS" "" "0000549922" "0" "90" "13" "20763397" "20763410" "del" "0" "01943" "GJB2_000026" "g.20763397_20763410del" "" "" "" "GJB2(NM_004004.6):c.313_326delAAGTTCATCAAGGG (p.K105Gfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189258_20189271del" "" "pathogenic" "" "0000549923" "0" "70" "13" "20763438" "20763438" "subst" "4.87987E-5" "02327" "GJB2_000042" "g.20763438C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189299C>T" "" "likely pathogenic" "" "0000549924" "0" "70" "13" "20763475" "20763475" "subst" "8.12447E-6" "02327" "GJB2_000081" "g.20763475G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189336G>C" "" "likely pathogenic" "" "0000549925" "0" "90" "13" "20763490" "20763490" "subst" "0.000146225" "02327" "GJB2_000004" "g.20763490C>T" "" "" "" "GJB2(NM_004004.6):c.231G>A (p.W77*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189351C>T" "" "pathogenic" "" "0000549926" "0" "90" "13" "20763589" "20763589" "subst" "2.84968E-5" "02327" "GJB2_000093" "g.20763589C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189450C>T" "" "pathogenic" "" "0000549927" "0" "50" "13" "20763595" "20763595" "subst" "9.36734E-5" "02327" "GJB2_000094" "g.20763595C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189456C>A" "" "VUS" "" "0000549928" "0" "90" "13" "20763612" "20763612" "subst" "0.00736103" "01804" "GJB2_000013" "g.20763612C>T" "" "" "" "GJB2(NM_004004.6):c.109G>A (p.V37I, p.(Val37Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189473C>T" "" "pathogenic" "" "0000549929" "0" "70" "13" "20763612" "20763612" "subst" "0.00736103" "02327" "GJB2_000013" "g.20763612C>T" "" "" "" "GJB2(NM_004004.6):c.109G>A (p.V37I, p.(Val37Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189473C>T" "" "likely pathogenic" "" "0000549930" "0" "70" "13" "20763619" "20763619" "subst" "0" "02327" "GJB2_000095" "g.20763619C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189480C>T" "" "likely pathogenic" "" "0000549931" "0" "90" "13" "20763620" "20763620" "subst" "0.00869409" "01943" "GJB2_000012" "g.20763620A>G" "" "" "" "GJB2(NM_004004.6):c.101T>C (p.M34T, p.(Met34Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189481A>G" "" "pathogenic" "" "0000549933" "0" "90" "13" "20763691" "20763691" "del" "0" "01804" "GJB2_000001" "g.20763691del" "" "" "" "GJB2(NM_004004.6):c.35del (p.(Gly12ValfsTer2)), GJB2(NM_004004.6):c.35delG (p.G12Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189552del" "" "pathogenic" "" "0000549934" "0" "90" "13" "20763691" "20763691" "del" "0" "02325" "GJB2_000001" "g.20763691del" "" "" "" "GJB2(NM_004004.6):c.35del (p.(Gly12ValfsTer2)), GJB2(NM_004004.6):c.35delG (p.G12Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189552del" "" "pathogenic" "" "0000549935" "0" "30" "13" "20763697" "20763697" "subst" "4.50576E-5" "02327" "GJB2_000075" "g.20763697C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189558C>T" "" "likely benign" "" "0000549936" "0" "10" "13" "20763735" "20763735" "subst" "0.00369972" "02327" "GJB2_000096" "g.20763735G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189596G>A" "" "benign" "" "0000614510" "0" "50" "13" "20763246" "20763246" "subst" "8.13438E-5" "02327" "GJB2_000098" "g.20763246C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189107C>T" "" "VUS" "" "0000614511" "0" "70" "13" "20763282" "20763282" "subst" "1.22053E-5" "02327" "GJB2_000024" "g.20763282C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189143C>T" "" "likely pathogenic" "" "0000614512" "0" "30" "13" "20763508" "20763508" "subst" "0" "02327" "GJB2_000099" "g.20763508G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189369G>A" "" "likely benign" "" "0000614513" "0" "30" "13" "20763565" "20763565" "subst" "0" "02327" "GJB2_000100" "g.20763565G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189426G>A" "" "likely benign" "" "0000614514" "0" "30" "13" "20763637" "20763637" "subst" "0" "02327" "GJB2_000101" "g.20763637G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189498G>A" "" "likely benign" "" "0000614515" "0" "70" "13" "20763686" "20763686" "subst" "8.60042E-5" "02327" "GJB2_000083" "g.20763686C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189547C>A" "" "likely pathogenic" "" "0000648702" "1" "70" "13" "20763265" "20763265" "subst" "4.06769E-6" "03575" "GJB2_000102" "g.20763265G>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs111033420}" "Germline" "" "rs111033420" "0" "" "" "g.20189126G>T" "" "likely pathogenic" "" "0000648703" "1" "90" "13" "20763351" "20763351" "subst" "8.16227E-5" "03575" "GJB2_000103" "g.20763351G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs397516874}" "Germline" "" "rs397516874" "0" "" "" "g.20189212G>A" "" "pathogenic" "" "0000648704" "1" "90" "13" "20763397" "20763410" "del" "0" "03575" "GJB2_000026" "g.20763397_20763410del" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs111033253}" "Germline" "" "rs111033253" "0" "" "" "g.20189258_20189271del" "" "pathogenic" "" "0000648705" "1" "90" "13" "20763490" "20763490" "subst" "0.000146225" "03575" "GJB2_000004" "g.20763490C>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs80338944}" "Germline" "" "rs80338944" "0" "" "" "g.20189351C>T" "" "pathogenic" "" "0000648706" "1" "90" "13" "20763497" "20763497" "subst" "0" "03575" "GJB2_000078" "g.20763497C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs28931593}" "Germline" "" "rs28931593" "0" "" "" "g.20189358C>T" "" "pathogenic" "" "0000648707" "1" "50" "13" "20763614" "20763614" "subst" "8.14306E-6" "03575" "GJB2_000104" "g.20763614A>G" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs587783644}" "Germline" "" "rs587783644" "0" "" "" "g.20189475A>G" "" "VUS" "" "0000648708" "1" "10" "13" "20763642" "20763642" "subst" "0.053231" "03575" "GJB2_000045" "g.20763642C>T" "121/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "121 heterozygous; {DB:CLININrs2274084}" "Germline" "" "rs2274084" "0" "" "" "g.20189503C>T" "" "benign" "" "0000648709" "1" "90" "13" "20763650" "20763650" "subst" "0.00060873" "03575" "GJB2_000003" "g.20763650C>T" "32/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "32 heterozygous, no homozygous; {DB:CLININrs104894396}" "Germline" "" "rs104894396" "0" "" "" "g.20189511C>T" "" "pathogenic" "" "0000648710" "1" "70" "13" "20763720" "20763720" "subst" "3.68904E-5" "03575" "GJB2_000031" "g.20763720T>C" "5/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs111033293}" "Germline" "" "rs111033293" "0" "" "" "g.20189581T>C" "" "likely pathogenic" "" "0000648711" "1" "90" "13" "20766921" "20766921" "subst" "0" "03575" "GJB2_000011" "g.20766921C>T" "12/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs80338940}" "Germline" "" "rs80338940" "0" "" "" "g.20192782C>T" "" "pathogenic" "" "0000653115" "1" "50" "13" "20763234" "20763234" "subst" "0.000146387" "03575" "GJB2_000068" "g.20763234T>C" "6/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs80338949}" "Germline" "" "rs80338949" "0" "" "" "g.20189095T>C" "" "VUS" "" "0000653116" "1" "90" "13" "20763626" "20763626" "subst" "4.07784E-6" "03575" "GJB2_000032" "g.20763626C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs111033190}" "Germline" "" "rs111033190" "0" "" "" "g.20189487C>T" "" "pathogenic" "" "0000653319" "1" "90" "13" "20763612" "20763612" "subst" "0.00736103" "03575" "GJB2_000013" "g.20763612C>T" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs72474224}" "Germline" "" "rs72474224" "0" "" "" "g.20189473C>T" "" "pathogenic" "" "0000657255" "0" "50" "13" "20763051" "20763051" "subst" "0.000127919" "01943" "GJB2_000033" "g.20763051T>G" "" "" "" "GJB2(NM_004004.6):c.670A>C (p.K224Q, p.(Lys224Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20188912T>G" "" "VUS" "" "0000657256" "0" "10" "13" "20763113" "20763113" "subst" "0.00413388" "02327" "GJB2_000086" "g.20763113A>G" "" "" "" "GJB2(NM_004004.6):c.608T>C (p.I203T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20188974A>G" "" "benign" "" "0000657257" "0" "50" "13" "20763321" "20763321" "subst" "0" "02327" "GJB2_000008" "g.20763321A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189182A>G" "" "VUS" "" "0000657258" "0" "70" "13" "20763602" "20763602" "subst" "0" "02327" "GJB2_000105" "g.20763602G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189463G>C" "" "likely pathogenic" "" "0000657259" "0" "90" "13" "20763650" "20763650" "subst" "0.00060873" "01943" "GJB2_000003" "g.20763650C>T" "" "" "" "GJB2(NM_004004.6):c.71G>A (p.W24*, p.(Trp24Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189511C>T" "" "pathogenic" "" "0000657260" "0" "70" "13" "20763705" "20763705" "subst" "0" "02327" "GJB2_000106" "g.20763705G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20189566G>C" "" "likely pathogenic" "" "0000659699" "0" "90" "13" "20763653" "20763690" "del" "2.04248E-5" "01164" "GJB2_000055" "g.20763653_20763690del" "" "" "" "" "ACMG grading: PVS1,PM2,PM3,PP1; no second variant detected in GJB2; Snoeckx et al. 2005. Am J Hum Genet 6: 945; Dodson et al. 2011. Am J Hum Genet 5: 993" "Germline" "" "rs397516873" "0" "" "" "g.20189514_20189551del" "" "pathogenic" "ACMG" "0000659743" "1" "90" "13" "20763421" "20763422" "del" "6.10381E-5" "03607" "GJB2_000107" "g.20763421_20763422del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.20189282_20189283del" "" "pathogenic" "" "0000669210" "3" "10" "13" "20763642" "20763642" "subst" "0.053231" "03575" "GJB2_000045" "g.20763642C>T" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 homozygous; {DB:CLININrs2274084}" "Germline" "" "rs2274084" "0" "" "" "g.20189503C>T" "" "benign" "" "0000679735" "0" "90" "13" "20763125" "20763125" "subst" "1.21907E-5" "02327" "GJB2_000087" "g.20763125G>A" "" "" "" "GJB2(NM_004004.6):c.596C>T (p.S199F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679736" "0" "90" "13" "20763452" "20763452" "subst" "0.000654285" "02325" "GJB2_000015" "g.20763452A>G" "" "" "" "GJB2(NM_004004.6):c.269T>C (p.L90P, p.(Leu90Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679737" "0" "90" "13" "20763488" "20763488" "del" "0" "02325" "GJB2_000052" "g.20763488del" "" "" "" "GJB2(NM_004004.5):c.235delC (p.(Leu79fs)), GJB2(NM_004004.6):c.235delC (p.L79Cfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679738" "0" "90" "13" "20763531" "20763546" "del" "0" "02327" "GJB2_000108" "g.20763531_20763546del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679739" "0" "30" "13" "20763748" "20763748" "subst" "0.000492348" "02327" "GJB2_000047" "g.20763748A>G" "" "" "" "GJB2(NM_004004.6):c.-22-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684787" "0" "30" "13" "20763612" "20763612" "subst" "0.00736103" "00004" "GJB2_000013" "g.20763612C>T" "frequency 0.096" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.20189473C>T" "" "likely benign" "" "0000686160" "3" "90" "13" "20763686" "20763686" "del" "0.0060549" "00006" "GJB2_000001" "g.20763686del" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686165" "1" "90" "13" "20763686" "20763686" "del" "0.0060549" "00006" "GJB2_000001" "g.20763686del" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000691483" "0" "90" "13" "20763612" "20763612" "subst" "0.00736103" "02325" "GJB2_000013" "g.20763612C>T" "" "" "" "GJB2(NM_004004.6):c.109G>A (p.V37I, p.(Val37Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000694112" "0" "70" "13" "20763620" "20763620" "subst" "0.00869409" "00006" "GJB2_000012" "g.20763620A>G" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000698975" "20" "70" "13" "20763612" "20763612" "subst" "0.00736103" "00006" "GJB2_000013" "g.20763612C>T" "" "{PMID:Yan 2011:22196401}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000698976" "11" "90" "13" "20763486" "20763486" "del" "0.000446802" "00006" "GJB2_000052" "g.20763486del" "" "{PMID:Yan 2011:22196401}" "" "235delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000704060" "0" "70" "13" "20763480" "20763480" "subst" "2.0312E-5" "03779" "GJB2_000109" "g.20763480G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs145216882" "0" "" "" "" "" "likely pathogenic" "" "0000710716" "0" "70" "13" "20763482" "20763482" "subst" "1.21849E-5" "03779" "GJB2_000110" "g.20763482T>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs727504302" "0" "" "" "" "" "likely pathogenic" "" "0000714135" "3" "90" "13" "20763650" "20763650" "subst" "0.00060873" "00000" "GJB2_000003" "g.20763650C>T" "" "{PMID:Shaikh 2017:29086887}" "" "" "" "Germline" "" "" "0" "" "" "g.20189511C>T" "" "pathogenic (recessive)" "" "0000714136" "3" "90" "13" "20763650" "20763650" "subst" "0.00060873" "00000" "GJB2_000003" "g.20763650C>T" "" "{PMID:Shaikh 2017:29086887}" "" "" "" "Germline" "" "" "0" "" "" "g.20189511C>T" "" "pathogenic (recessive)" "" "0000714137" "3" "90" "13" "20763650" "20763650" "subst" "0.00060873" "00000" "GJB2_000003" "g.20763650C>T" "" "{PMID:Shaikh 2017:29086887}" "" "" "" "Germline" "" "" "0" "" "" "g.20189511C>T" "" "pathogenic (recessive)" "" "0000714138" "3" "90" "13" "20763650" "20763650" "subst" "0.00060873" "00000" "GJB2_000003" "g.20763650C>T" "" "{PMID:Shaikh 2017:29086887}" "" "" "" "Germline" "" "" "0" "" "" "g.20189511C>T" "" "pathogenic (recessive)" "" "0000714139" "3" "90" "13" "20763490" "20763490" "subst" "0.000146225" "00000" "GJB2_000004" "g.20763490C>T" "" "{PMID:Shaikh 2017:29086887}" "" "" "" "Germline" "" "" "0" "" "" "g.20189351C>T" "" "pathogenic (recessive)" "" "0000714140" "3" "90" "13" "20763490" "20763490" "subst" "0.000146225" "00000" "GJB2_000004" "g.20763490C>T" "" "{PMID:Shaikh 2017:29086887}" "" "" "" "Germline" "" "" "0" "" "" "g.20189351C>T" "" "pathogenic (recessive)" "" "0000714141" "3" "90" "13" "20763488" "20763488" "del" "0" "00000" "GJB2_000052" "g.20763488del" "" "{PMID:Shaikh 2017:29086887}" "" "233delC" "" "Germline" "" "" "0" "" "" "g.20189349del" "" "pathogenic (recessive)" "" "0000714142" "3" "90" "13" "20763691" "20763691" "del" "0" "00000" "GJB2_000001" "g.20763691del" "" "{PMID:Shaikh 2017:29086887}" "" "35delG" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000714143" "3" "90" "13" "20763691" "20763691" "del" "0" "00000" "GJB2_000001" "g.20763691del" "" "{PMID:Shaikh 2017:29086887}" "" "35delG" "" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "" "0000714144" "1" "90" "13" "20763650" "20763650" "subst" "0.00060873" "00000" "GJB2_000003" "g.20763650C>T" "" "{PMID:Shaikh 2017:29086887}" "" "" "" "Germline" "" "" "0" "" "" "g.20189511C>T" "" "pathogenic (recessive)" "" "0000714145" "2" "90" "13" "20763398" "20763411" "del" "0" "00000" "GJB2_000113" "g.20763398_20763411del" "" "{PMID:Shaikh 2017:29086887}" "" "310del14 (Lys105Argfs*2)" "" "Germline" "" "" "0" "" "" "g.20189259_20189272del" "" "pathogenic (recessive)" "" "0000724377" "0" "50" "13" "20763051" "20763051" "subst" "0.000127919" "02327" "GJB2_000033" "g.20763051T>G" "" "" "" "GJB2(NM_004004.6):c.670A>C (p.K224Q, p.(Lys224Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724378" "0" "70" "13" "20763305" "20763305" "subst" "0.000288937" "02325" "GJB2_000039" "g.20763305C>T" "" "" "" "GJB2(NM_004004.5):c.416G>A (p.(Ser139Asn)), GJB2(NM_004004.6):c.416G>A (p.S139N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724379" "0" "50" "13" "20763366" "20763366" "subst" "9.39028E-5" "02327" "GJB2_000040" "g.20763366C>T" "" "" "" "GJB2(NM_004004.6):c.355G>A (p.E119K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724380" "0" "90" "13" "20763497" "20763497" "subst" "0" "02327" "GJB2_000078" "g.20763497C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724381" "0" "50" "13" "20763585" "20763585" "subst" "0" "01943" "GJB2_000115" "g.20763585C>A" "" "" "" "GJB2(NM_004004.6):c.136G>T (p.D46Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729364" "0" "70" "13" "20763116" "20763116" "subst" "0" "03779" "GJB2_000114" "g.20763116C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs104894406" "0" "" "" "" "" "likely pathogenic" "" "0000759744" "0" "90" "13" "20763691" "20763691" "del" "0" "04006" "GJB2_000001" "g.20763691del" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "?" "rs80338939" "0" "" "" "g.20189552del" "" "pathogenic" "ACMG" "0000759745" "0" "70" "13" "20763639" "20763642" "delins" "0" "04006" "GJB2_000116" "g.20763639_20763642delinsTCT" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "?" "" "0" "" "" "g.20189500_20189503delinsTCT" "{CV-SCV:001792212}" "pathogenic" "ACMG" "0000759906" "0" "70" "13" "20763627" "20763627" "subst" "0" "03779" "GJB2_000117" "g.20763627G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000763568" "3" "90" "13" "20763650" "20763650" "subst" "0.00060873" "03219" "GJB2_000003" "g.20763650C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000788241" "0" "50" "13" "20763095" "20763095" "subst" "4.07485E-6" "03779" "GJB2_000118" "g.20763095T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs779948837" "0" "" "" "" "" "VUS" "" "0000806040" "0" "50" "13" "20763233" "20763233" "subst" "0" "02327" "GJB2_000036" "g.20763233A>C" "" "" "" "GJB2(NM_004004.6):c.488T>G (p.M163R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806041" "0" "50" "13" "20763504" "20763504" "subst" "0" "01943" "GJB2_000119" "g.20763504G>T" "" "" "" "GJB2(NM_004004.6):c.217C>A (p.H73N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815034" "0" "70" "13" "20763200" "20763200" "subst" "0" "03779" "GJB2_000120" "g.20763200C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000830857" "1" "70" "13" "20763421" "20763422" "del" "6.10381E-5" "00006" "GJB2_000107" "g.20763421_20763422del" "" "{PMID:Choi 2013:23990876}" "" "c.299_300del" "rs111033204" "Germline" "" "" "0" "" "" "g.20189282_20189283del" "" "likely pathogenic (recessive)" "" "0000830869" "1" "90" "13" "20763421" "20763422" "del" "6.10381E-5" "00006" "GJB2_000107" "g.20763421_20763422del" "" "{PMID:Choi 2013:23990876}" "" "c.299_300del" "" "Germline" "" "" "0" "" "" "g.20189282_20189283del" "" "pathogenic (recessive)" "" "0000830871" "2" "70" "13" "20763488" "20763488" "del" "0" "00006" "GJB2_000052" "g.20763488del" "" "{PMID:Choi 2013:23990876}" "" "c.235delC" "rs80338943" "Germline" "" "" "0" "" "" "g.20189349del" "" "likely pathogenic (recessive)" "" "0000830872" "2" "90" "13" "20763488" "20763488" "del" "0" "00006" "GJB2_000052" "g.20763488del" "" "{PMID:Choi 2013:23990876}" "" "c.235delC" "" "Germline" "" "" "0" "" "" "g.20189349del" "" "pathogenic (recessive)" "" "0000833845" "3" "90" "13" "20763691" "20763691" "del" "0" "00000" "GJB2_000001" "g.20763691del" "" "{PMID:Niepokoj 2018:29151245}" "" "GJB2 c.35delG, p.(Gly12Valfs*2)" "" "Germline" "yes" "" "0" "" "" "g.20189552del" "" "pathogenic" "" "0000853587" "0" "50" "13" "20763366" "20763366" "subst" "9.39028E-5" "02325" "GJB2_000040" "g.20763366C>T" "" "" "" "GJB2(NM_004004.6):c.355G>A (p.E119K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853588" "0" "30" "13" "20763710" "20763710" "subst" "0.000422034" "02327" "GJB2_000046" "g.20763710C>T" "" "" "" "GJB2(NM_004004.6):c.11G>A (p.G4D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863232" "0" "70" "13" "20763620" "20763620" "subst" "0.00869409" "02325" "GJB2_000012" "g.20763620A>G" "" "" "" "GJB2(NM_004004.6):c.101T>C (p.M34T, p.(Met34Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000869060" "1" "70" "13" "20763691" "20763691" "del" "0" "00006" "GJB2_000001" "g.20763691del" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PS3, PP5, PP3" "Germline" "" "" "0" "" "" "g.20189552del" "" "likely pathogenic (recessive)" "" "0000869101" "2" "70" "13" "20766921" "20766921" "subst" "0" "00006" "GJB2_000011" "g.20766921C>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PP5, PM2, BP4" "Germline" "" "" "0" "" "" "g.20192782C>T" "" "likely pathogenic (recessive)" "" "0000871257" "3" "90" "13" "20763612" "20763612" "subst" "0.00736103" "00006" "GJB2_000013" "g.20763612C>T" "" "{PMID:Velmans 2012:34321323}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000871652" "3" "10" "13" "20763642" "20763642" "subst" "0.053231" "04277" "GJB2_000045" "g.20763642C>T" "4/125 cases non-syndromic deafness" "" "" "g.8473G>A" "We found no correlation between GJB2 genotypes and auditory phenotype or with any other qualitative variables; evidence for Central Asian Origin of the variant (Guille García Sánchez Int J Med Genet 2014, DOI 10.1155/2014/856313)" "Germline/De novo (untested)" "?" "rs2274084" "0" "" "" "g.20189503C>T" "36279" "benign" "" "0000872773" "0" "90" "13" "20763650" "20763650" "subst" "0.00060873" "00000" "GJB2_000003" "g.20763650C>T" "" "{PMID:Hull-2016:27389523}" "" "c.71G>A (p.Trp24*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872776" "3" "90" "13" "20763650" "20763650" "subst" "0.00060873" "00000" "GJB2_000003" "g.20763650C>T" "" "{PMID:Hull-2016:27389523}" "" "c.71G>A (p.Trp24*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000873065" "3" "90" "13" "20763488" "20763488" "del" "0" "00006" "GJB2_000052" "g.20763488del" "" "{PMID:Xie 2022:35813381}" "" "" "" "Germline" "" "" "0" "" "" "g.20189349del" "" "pathogenic (recessive)" "" "0000874566" "1" "10" "13" "20763642" "20763642" "subst" "0.053231" "04277" "GJB2_000045" "g.20763642C>T" "29/125 cases non-syndromic deafness" "" "" "g.8473G>A" "We found no correlation between GJB2 genotypes and auditory phenotype or with any other qualitative variables; evidence for Central Asian Origin of the variant (Guille García Sánchez Int J Med Genet 2014, DOI 10.1155/2014/856313)" "Germline/De novo (untested)" "no" "rs2274084" "0" "" "" "g.20189503C>T" "36279" "benign" "" "0000881227" "3" "90" "13" "20763650" "20763650" "subst" "0.00060873" "02300" "GJB2_000003" "g.20763650C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM1, PP3, PP5" "Germline" "" "rs104894396" "0" "" "" "g.20189511C>T" "" "pathogenic (recessive)" "ACMG" "0000881318" "0" "70" "13" "20763197" "20763197" "subst" "0" "02300" "GJB2_000121" "g.20763197G>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.20189058G>C" "" "likely pathogenic" "ACMG" "0000881370" "3" "90" "13" "20763691" "20763691" "del" "0" "02300" "GJB2_000001" "g.20763691del" "" "{PMID:Marinakis 2021:34008892}" "" "c.35delG" "ACMG PVS1, PS3, PP3, PP5" "Germline" "" "rs80338939" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "ACMG" "0000890900" "0" "90" "13" "20763273" "20763273" "del" "0" "02327" "GJB2_000122" "g.20763273del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890901" "0" "50" "13" "20763332" "20763332" "subst" "0" "02327" "GJB2_000123" "g.20763332C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890902" "0" "50" "13" "20763441" "20763441" "subst" "0" "02327" "GJB2_000124" "g.20763441G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890903" "0" "50" "13" "20763521" "20763521" "subst" "2.4377E-5" "02325" "GJB2_000125" "g.20763521T>C" "" "" "" "GJB2(NM_004004.6):c.200A>G (p.H67R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909295" "21" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909298" "11" "90" "13" "20189155" "20189155" "subst" "0" "04147" "GJB2_000038" "g.20189155G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189155G>A" "" "pathogenic (recessive)" "ACMG" "0000909309" "3" "90" "13" "20763294" "20763294" "subst" "0.000118022" "04147" "GJB2_000038" "g.20763294G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189155G>A" "" "pathogenic (recessive)" "ACMG" "0000909310" "3" "90" "13" "20763294" "20763294" "subst" "0.000118022" "04147" "GJB2_000038" "g.20763294G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189155G>A" "" "pathogenic (recessive)" "ACMG" "0000909311" "1" "90" "13" "20763294" "20763294" "subst" "0.000118022" "04147" "GJB2_000038" "g.20763294G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189155G>A" "" "pathogenic (recessive)" "ACMG" "0000909312" "2" "90" "13" "20763589" "20763589" "subst" "2.84968E-5" "04147" "GJB2_000093" "g.20763589C>T" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189450C>T" "" "pathogenic (recessive)" "ACMG" "0000909313" "3" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909314" "3" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909315" "3" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909316" "3" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909317" "3" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909318" "3" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909319" "3" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909320" "3" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909321" "3" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909322" "3" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909323" "3" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909324" "1" "90" "13" "20763627" "20763627" "subst" "3.67044E-5" "04147" "GJB2_000126" "g.20763627G>A" "2/148 controls" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189488G>A" "" "pathogenic (recessive)" "ACMG" "0000909325" "1" "90" "13" "20763294" "20763294" "subst" "0.000118022" "04147" "GJB2_000038" "g.20763294G>A" "4/148 controls" "{PMID:Dia 2022:35625523}" "" "" "" "Germline" "" "" "0" "" "" "g.20189155G>A" "" "pathogenic (recessive)" "ACMG" "0000909326" "1" "90" "13" "20763294" "20763294" "subst" "0.000118022" "04147" "GJB2_000038" "g.20763294G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189155G>A" "" "pathogenic (recessive)" "ACMG" "0000909327" "2" "90" "13" "20763589" "20763589" "subst" "2.84968E-5" "04147" "GJB2_000093" "g.20763589C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189450C>T" "" "pathogenic (recessive)" "ACMG" "0000909863" "0" "90" "13" "20763573" "20763573" "subst" "0" "04147" "GJB2_000054" "g.20763573C>T" "" "{PMID:Wonkam 2013:23924173}" "" "" "0/60 healthy controls from Cameroon" "Germline/De novo (untested)" "?" "" "0" "" "" "g.20189434C>T" "" "pathogenic (dominant)" "ACMG" "0000909864" "0" "90" "13" "20763573" "20763573" "subst" "0" "04147" "GJB2_000054" "g.20763573C>T" "" "{PMID:Wonkam 2013:23924173}" "" "" "0/60 healthy controls from Cameroon" "Germline/De novo (untested)" "" "" "0" "" "" "g.20189434C>T" "" "pathogenic (dominant)" "ACMG" "0000909906" "1" "50" "13" "20763222" "20763222" "subst" "4.47362E-5" "04147" "GJB2_000090" "g.20763222C>T" "" "{PMID:Wonkam 2019:31731535}" "" "" "Affected are heterozygous" "Germline" "" "rs111033360" "0" "" "" "g.20189083C>T" "" "VUS (!)" "ACMG" "0000920218" "0" "90" "13" "20763691" "20763691" "del" "0" "03779" "GJB2_000001" "g.20763691del" "" "" "" "" "" "Unknown" "" "rs80338939" "0" "" "" "" "" "pathogenic" "" "0000925741" "0" "50" "13" "20763464" "20763464" "subst" "4.06395E-6" "02327" "GJB2_000127" "g.20763464G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927508" "0" "90" "13" "20763620" "20763620" "subst" "0.00869409" "00006" "GJB2_000012" "g.20763620A>G" "" "{PMID:Washington 2023:37038535}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.20189481A>G" "" "pathogenic (recessive)" "" "0000943908" "3" "90" "13" "20763488" "20763488" "del" "0" "00006" "GJB2_000052" "g.20763488del" "" "{PMID:Sang 2019:31379920}" "" "235delC" "" "Germline" "" "" "0" "" "" "g.20189349del" "" "pathogenic (recessive)" "ACMG" "0000943909" "1" "90" "13" "20763282" "20763282" "subst" "1.22053E-5" "00006" "GJB2_000024" "g.20763282C>T" "" "{PMID:Sang 2019:31379920}" 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"13" "20763293" "20763293" "subst" "0" "00006" "GJB2_000091" "g.20763293C>T" "" "{PMID:Sang 2019:31379920}" "" "" "" "Germline" "" "" "0" "" "" "g.20189154C>T" "" "pathogenic (recessive)" "ACMG" "0000943921" "2" "90" "13" "20763488" "20763488" "del" "0" "00006" "GJB2_000052" "g.20763488del" "" "{PMID:Sang 2019:31379920}" "" "235delC" "" "Germline" "" "" "0" "" "" "g.20189349del" "" "pathogenic (recessive)" "ACMG" "0000943922" "2" "90" "13" "20763488" "20763488" "del" "0" "00006" "GJB2_000052" "g.20763488del" "" "{PMID:Sang 2019:31379920}" "" "235delC" "" "Germline" "" "" "0" "" "" "g.20189349del" "" "pathogenic (recessive)" "ACMG" "0000943946" "0" "30" "13" "20763612" "20763612" "subst" "0.00736103" "00006" "GJB2_000013" "g.20763612C>T" "" "{PMID:Eisenberger 2018:29309402}" "" "" "" "Germline" "" "rs72474224" "0" "" "" "g.20189473C>T" "" "likely benign" "" "0000944007" "3" "90" "13" "20766921" "20766921" "subst" "0" "00006" "GJB2_000011" "g.20766921C>T" "" "{PMID:Richard 2019: 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"pathogenic (recessive)" "" "0000944490" "1" "90" "13" "20763650" "20763650" "subst" "0.00060873" "00006" "GJB2_000003" "g.20763650C>T" "" "{PMID:Kelsell 1997:9139825}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs104894396" "0" "" "" "g.20189511C>T" "" "pathogenic (recessive)" "" "0000944491" "3" "90" "13" "20763364" "20763366" "del" "0" "00006" "GJB2_000020" "g.20763364_20763366del" "" "{PMID:Marlin 2005:15967879}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs80338947" "0" "" "" "g.20189225_20189227del" "" "pathogenic (recessive)" "" "0000944523" "2" "90" "13" "20763490" "20763490" "subst" "0.000146225" "00006" "GJB2_000004" "g.20763490C>T" "" "{PMID:Kelsell 1997:9139825}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs80338944" "0" "" "" "g.20189351C>T" "" "pathogenic (recessive)" "" "0000944524" "2" "90" "13" "20763490" "20763490" "subst" "0.000146225" "00006" "GJB2_000004" "g.20763490C>T" "" "{PMID:Kelsell 1997:9139825}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs80338944" "0" "" "" "g.20189351C>T" "" "pathogenic (recessive)" "" "0000950065" "0" "90" "13" "20763421" "20763422" "del" "6.10381E-5" "02327" "GJB2_000107" "g.20763421_20763422del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000958528" "0" "90" "13" "20763691" "20763691" "del" "0" "00006" "GJB2_000001" "g.20763691del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.20189552del" "" "pathogenic (recessive)" "ACMG" "0000959795" "0" "90" "13" "20763620" "20763620" "subst" "0.00869409" "03779" "GJB2_000012" "g.20763620A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs35887622" "0" "" "" "" "" "pathogenic" "" "0000980581" "0" "50" "13" "20763136" "20763136" "subst" "0" "02327" "GJB2_000129" "g.20763136C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980582" "0" "90" "13" "20763452" "20763452" "subst" "0.000654285" "01804" "GJB2_000015" "g.20763452A>G" "" "" "" "GJB2(NM_004004.6):c.269T>C (p.L90P, p.(Leu90Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980583" "0" "90" "13" "20763620" "20763620" "subst" "0.00869409" "01804" "GJB2_000012" "g.20763620A>G" "" "" "" "GJB2(NM_004004.6):c.101T>C (p.M34T, p.(Met34Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980584" "0" "90" "13" "20763650" "20763650" "subst" "0.00060873" "01804" "GJB2_000003" "g.20763650C>T" "" "" "" "GJB2(NM_004004.6):c.71G>A (p.W24*, p.(Trp24Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001000463" "0" "50" "13" "20763339" "20763339" "subst" "0" "01804" "GJB2_000130" "g.20763339T>C" "" "" "" "GJB2(NM_004004.5):c.382A>G (p.(Ile128Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000464" "0" "90" "13" "20763364" "20763366" "del" "0" "01804" "GJB2_000020" "g.20763364_20763366del" "" "" "" "GJB2(NM_004004.5):c.358_360delGAG (p.(Glu120del)), GJB2(NM_004004.6):c.358_360delGAG (p.E120del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001000465" "0" "70" "13" "20763488" "20763488" "del" "0" "01804" "GJB2_000052" "g.20763488del" "" "" "" "GJB2(NM_004004.5):c.235delC (p.(Leu79fs)), GJB2(NM_004004.6):c.235delC (p.L79Cfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000466" "0" "50" "13" "20763698" "20763698" "subst" "7.78267E-5" "01804" "GJB2_000084" "g.20763698G>A" "" "" "" "GJB2(NM_004004.5):c.23C>T (p.(Thr8Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000467" "0" "30" "13" "20763721" "20763721" "subst" "2.04947E-5" "01804" "GJB2_000131" "g.20763721C>T" "" "" "" "GJB2(NM_004004.5):c.-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017456" "21" "90" "13" "20763612" "20763612" "subst" "0.00736103" "00006" "GJB2_000013" "g.20763612C>T" "" "{PMID:Koruga 2021:37189872}" "" "" "" "Germline" "" "" "0" "" "" "g.20189473C>T" "" "pathogenic" "" "0001026261" "0" "50" "13" "20763243" "20763243" "subst" "0.000569374" "01943" "GJB2_000069" "g.20763243C>T" "" "" "" "GJB2(NM_004004.6):c.478G>A (p.G160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026262" "0" "50" "13" "20763542" "20763542" "subst" "0" "02327" "GJB2_000132" "g.20763542C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039597" "0" "50" "13" "20763051" "20763051" "subst" "0.000127919" "01804" "GJB2_000033" "g.20763051T>G" "" "" "" "GJB2(NM_004004.6):c.670A>C (p.K224Q, p.(Lys224Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039598" "0" "50" "13" "20763058" "20763058" "subst" "3.70459E-5" "01804" "GJB2_000065" "g.20763058C>G" "" "" "" "GJB2(NM_004004.6):c.663G>C (p.(Lys221Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039599" "0" "90" "13" "20763720" "20763720" "subst" "3.68904E-5" "01804" "GJB2_000031" "g.20763720T>C" "" "" "" "GJB2(NM_004004.6):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039600" "0" "70" "13" "20763744" "20763744" "subst" "0.000607179" "01804" "GJB2_000058" "g.20763744T>G" "" "" "" "GJB2(NM_004004.6):c.-22-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001044979" "1" "90" "13" "20763612" "20763612" "subst" "0.00736103" "00006" "GJB2_000013" "g.20763612C>T" "1608/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.20189473C>T" "" "pathogenic (recessive)" "" "0001044980" "1" "90" "13" "20763488" "20763488" "del" "0" "00006" "GJB2_000052" "g.20763488del" "215/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "235delC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.20189349del" "" "pathogenic (recessive)" "" "0001044981" "1" "90" "13" "20763421" "20763422" "del" "6.10381E-5" "00006" "GJB2_000107" "g.20763421_20763422del" "31/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "299_300delAT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.20189282_20189283del" "" "pathogenic (recessive)" "" "0001044982" "1" "90" "13" "20763294" "20763294" "subst" "0.000118022" "00006" "GJB2_000038" "g.20763294G>A" "6/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.20189155G>A" "" "pathogenic (recessive)" "" "0001044983" "1" "90" "13" "20763210" "20763213" "dup" "0" "00006" "GJB2_000010" "g.20763210_20763213dup" "5/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "508_511dupAACG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.20189071_20189074dup" "" "pathogenic (recessive)" "" "0001044984" "1" "90" "13" "20763531" "20763546" "del" "0" "00006" "GJB2_000108" "g.20763531_20763546del" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.20189392_20189407del" "" "pathogenic (recessive)" "" "0001044985" "1" "90" "13" "20763626" "20763626" "subst" "4.07784E-6" "00006" "GJB2_000032" "g.20763626C>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.20189487C>T" "" "pathogenic (recessive)" "" "0001044986" "1" "90" "13" "20763614" "20763614" "subst" "8.14306E-6" "00006" "GJB2_000104" "g.20763614A>G" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.20189475A>G" "" "pathogenic (recessive)" "" "0001044987" "1" "90" "13" "20763150" "20763150" "subst" "0.000142175" "00006" "GJB2_000133" "g.20763150A>G" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.20189011A>G" "" "pathogenic (recessive)" "" "0001044988" "1" "90" "13" "20763458" "20763458" "subst" "0" "00006" "GJB2_000134" "g.20763458G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.20189319G>A" "" "pathogenic (dominant)" "" "0001044989" "1" "90" "13" "20763293" "20763293" "subst" "0" "00006" "GJB2_000091" "g.20763293C>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.20189154C>T" "" "pathogenic (dominant)" "" "0001044990" "1" "90" "13" "20763497" "20763497" "subst" "0" "00006" "GJB2_000078" "g.20763497C>T" "" "{PMID:Wu 2013:23451214}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20189358C>T" "" "pathogenic (dominant)" "" "0001046414" "0" "50" "13" "20763471" "20763471" "subst" "1.62513E-5" "02327" "GJB2_000135" "g.20763471C>A" "" "" "" "" "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 GJB2 ## Count = 560 "{{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}}" "0000005257" "00000993" "50" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127His)" "2" "0000046548" "00000993" "99" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "2" "0000046549" "00000993" "59" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77*)" "2" "0000046550" "00000993" "99" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000046555" "00000993" "99" "35" "0" "35" "0" "c.35dup" "r.(?)" "p.(Val13Cysfs*35)" "2" "0000071784" "00000993" "99" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000071787" "00000993" "99" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000071793" "00000993" "99" "35" "0" "35" "0" "c.35del" "r.35del" "p.Gly12Valfs*2" "2" "0000071797" "00000993" "99" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000071799" "00000993" "99" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000071800" "00000993" "99" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000075167" "00000993" "99" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "2" "0000079523" "00000993" "00" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000089914" "00000993" "50" "128" "0" "128" "0" "c.128T>G" "r.(?)" "p.(Val43Gly)" "2" "0000091243" "00000993" "90" "400" "0" "400" "0" "c.400T>C" "r.(?)" "p.(Trp134Arg)" "2" "0000091306" "00000993" "90" "400" "0" "400" "0" "c.400T>C" "r.(?)" "p.(Trp134Arg)" "2" "0000128982" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000128983" "00000993" "79" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "2" "0000128984" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000128985" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000128988" "00000993" "70" "-23" "1" "-23" "1" "c.-23+1G>A" "r.spl?" "p.?" "1i" "0000128989" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000129009" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "2" "0000129010" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000129020" "00000993" "70" "250" "0" "250" "0" "c.250G>C" "r.(?)" "p.(Val84Leu)" "2" "0000129021" "00000993" "70" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Leu90Pro)" "2" "0000129022" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000129023" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000129026" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000129027" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "2" "0000129029" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000129030" "00000993" "70" "508" "0" "511" "0" "c.508_511dup" "r.(?)" "p.(Ala171Glufs*40)" "2" "0000129044" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "2" "0000129045" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000130270" "00000993" "70" "32" "0" "32" "0" "c.32G>A" "r.(?)" "p.(Gly11Glu)" "" "0000150685" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000169378" "00000993" "00" "38" "0" "39" "0" "c.38_39del" "r.(?)" "p.(Val13Glufs*34)" "" "0000188667" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188668" "00000993" "90" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Gln57*)" "2" "0000188669" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188671" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188672" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000188673" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188674" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188675" "00000993" "90" "334" "0" "335" "0" "c.334_335del" "r.(?)" "p.(Lys112Glufs*2)" "2" "0000188676" "00000993" "70" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Leu90Pro)" "2" "0000188677" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188678" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188679" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188680" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188681" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188682" "00000993" "90" "465" "0" "465" "0" "c.465T>A" "r.(?)" "p.(Tyr155*)" "2" "0000188683" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188685" "00000993" "90" "290" "0" "290" "0" "c.290dup" "r.(?)" "p.(Tyr97*)" "2" "0000188686" "00000993" "70" "358" "0" "360" "0" "c.358_360del" "r.(?)" "p.(Glu120del)" "2" "0000188687" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188688" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188689" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188690" "00000993" "70" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Leu90Pro)" "2" "0000188691" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "2" "0000188692" "00000993" "90" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Gln57*)" "2" "0000188693" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188694" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188696" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188697" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188698" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188699" "00000993" "90" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Glu47*)" "2" "0000188700" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000188701" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188702" "00000993" "70" "358" "0" "360" "0" "c.358_360del" "r.(?)" "p.(Glu120del)" "2" "0000188703" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000188704" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188705" "00000993" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "2" "0000188706" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188707" "00000993" "90" "353" "0" "356" "0" "c.353_356dup" "r.(?)" "p.(Glu119Aspfs*92)" "2" "0000188708" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188709" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188710" "00000993" "90" "313" "0" "326" "0" "c.313_326del" "r.(?)" "p.(Lys105Glyfs*5)" "2" "0000188711" "00000993" "70" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Arg32His)" "2" "0000188712" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188713" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188714" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188715" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188716" "00000993" "70" "617" "0" "617" "0" "c.617A>G" "r.(?)" "p.(Asn206Ser)" "2" "0000188717" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188718" "00000993" "90" "-23" "1" "-23" "1" "c.-23+1G>A" "r.spl?" "p.?" "1i" "0000188719" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188720" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "2" "0000188721" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000188722" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188723" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188724" "00000993" "90" "334" "0" "335" "0" "c.334_335del" "r.(?)" "p.(Lys112Glufs*2)" "2" "0000188725" "00000993" "70" "551" "0" "551" "0" "c.551G>C" "r.(?)" "p.(Arg184Pro)" "2" "0000188727" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188728" "00000993" "90" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Glu147Lys)" "2" "0000188729" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188730" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188731" "00000993" "70" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Leu90Pro)" "2" "0000188732" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000188733" "00000993" "70" "428" "0" "428" "0" "c.428G>T" "r.(?)" "p.(Arg143Leu)" "2" "0000188734" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188735" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "2" "0000188736" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188737" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188738" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188739" "00000993" "90" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Glu47*)" "2" "0000188740" "00000993" "70" "617" "0" "617" "0" "c.617A>G" "r.(?)" "p.(Asn206Ser)" "2" "0000188741" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188748" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000188763" "00000993" "70" "119" "0" "119" "0" "c.119C>A" "r.(?)" "p.(Ala40Glu)" "2" "0000254079" "00000993" "30" "-22" "-6" "-22" "-6" "c.-22-6T>C" "r.(=)" "p.(=)" "1i" "0000255535" "00000993" "90" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Leu90Pro)" "" "0000255642" "00000993" "90" "229" "0" "229" "0" "c.229T>C" "r.(?)" "p.(Trp77Arg)" "" "0000256299" "00000993" "50" "488" "0" "488" "0" "c.488T>G" "r.(?)" "p.(Met163Arg)" "" "0000277289" "00000993" "10" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000277290" "00000993" "30" "670" "0" "670" "0" "c.670A>C" "r.(?)" "p.(Lys224Gln)" "" "0000281041" "00000993" "30" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Gly4Asp)" "" "0000281042" "00000993" "10" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(Glu114Gly)" "" "0000281043" "00000993" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "" "0000283370" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000283371" "00000993" "90" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Glu47Ter)" "" "0000288349" "00000993" "90" "-23" "1" "-23" "1" "c.-23+1G>A" "r.spl?" "p.?" "1i" "0000288350" "00000993" "30" "-45" "0" "-45" "0" "c.-45C>A" "r.(?)" "p.(=)" "1" "0000288351" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000288352" "00000993" "30" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Gly4Asp)" "" "0000288353" "00000993" "90" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Glu47Ter)" "" "0000288354" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000288355" "00000993" "30" "249" "0" "249" "0" "c.249C>G" "r.(?)" "p.(Phe83Leu)" "" "0000288356" "00000993" "10" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(Glu114Gly)" "" "0000288357" "00000993" "90" "358" "0" "360" "0" "c.358_360del" "r.(?)" "p.(Glu120del)" "" "0000288358" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000288359" "00000993" "10" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127His)" "" "0000288360" "00000993" "70" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Ser139Asn)" "" "0000288361" "00000993" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "" "0000288362" "00000993" "10" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000288363" "00000993" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184Gln)" "" "0000288364" "00000993" "50" "647" "0" "647" "0" "c.647G>T" "r.(?)" "p.(Arg216Ile)" "" "0000288365" "00000993" "10" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "" "0000337460" "00000993" "10" "-6" "0" "-6" "0" "c.-6T>A" "r.(?)" "p.(=)" "2" "0000337461" "00000993" "70" "-22" "-2" "-22" "-2" "c.-22-2A>C" "r.spl?" "p.?" "1" "0000337462" "00000993" "10" "-22" "-12" "-22" "-12" "c.-22-12C>T" "r.(=)" "p.(=)" "1" "0000337463" "00000993" "30" "-23" "12" "-23" "12" "c.-23+12G>A" "r.(=)" "p.(=)" "1i" "0000337464" "00000993" "30" "-35" "0" "-35" "0" "c.-35C>T" "r.(?)" "p.(=)" "1" "0000337465" "00000993" "10" "-45" "0" "-45" "0" "c.-45C>A" "r.(?)" "p.(=)" "1" "0000337466" "00000993" "10" "-127" "0" "-127" "0" "c.-127G>C" "r.(?)" "p.(=)" "1" "0000337467" "00000993" "30" "-205" "0" "-205" "0" "c.-205T>G" "r.(?)" "p.(=)" "1" "0000337468" "00000993" "10" "-216" "0" "-216" "0" "c.-216T>G" "r.(?)" "p.(=)" "1" "0000341828" "00000993" "30" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127His)" "" "0000341927" "00000993" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "" "0000342124" "00000993" "90" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184Gln)" "" "0000342260" "00000993" "50" "647" "0" "647" "0" "c.647G>T" "r.(?)" "p.(Arg216Ile)" "" "0000343343" "00000993" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "" "0000344126" "00000993" "90" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Asp50Asn)" "" "0000344980" "00000993" "90" "238" "0" "238" "0" "c.238C>A" "r.(?)" "p.(Gln80Lys)" "" "0000345068" "00000993" "10" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(Glu114Gly)" "" "0000345107" "00000993" "90" "358" "0" "360" "0" "c.358_360del" "r.(?)" "p.(Glu120del)" "" "0000345696" "00000993" "50" "389" "0" "389" "0" "c.389G>T" "r.(?)" "p.(Gly130Val)" "" "0000345765" "00000993" "50" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Gly160Ser)" "" "0000345833" "00000993" "90" "598" "0" "598" "0" "c.598G>T" "r.(?)" "p.(Gly200Ter)" "" "0000346352" "00000993" "70" "299" "0" "299" "0" "c.299A>C" "r.(?)" "p.(His100Pro)" "" "0000347340" "00000993" "90" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Leu90Pro)" "" "0000347364" "00000993" "90" "313" "0" "326" "0" "c.313_326del" "r.(?)" "p.(Lys105GlyfsTer5)" "" "0000347432" "00000993" "50" "44" "0" "44" "0" "c.44A>C" "r.(?)" "p.(Lys15Thr)" "" "0000347757" "00000993" "50" "487" "0" "487" "0" "c.487A>G" "r.(?)" "p.(Met163Val)" "" "0000347816" "00000993" "90" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000348097" "00000993" "30" "249" "0" "249" "0" "c.249C>G" "r.(?)" "p.(Phe83Leu)" "" "0000348710" "00000993" "70" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Ser139Asn)" "" "0000349333" "00000993" "50" "557" "0" "557" "0" "c.557C>A" "r.(?)" "p.(Thr186Lys)" "" "0000349852" "00000993" "90" "229" "0" "229" "0" "c.229T>C" "r.(?)" "p.(Trp77Arg)" "" "0000350314" "00000993" "10" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000350449" "00000993" "10" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "" "0000350677" "00000993" "90" "250" "0" "250" "0" "c.250G>C" "r.(?)" "p.(Val84Leu)" "" "0000351013" "00000993" "90" "551" "0" "551" "0" "c.551G>C" "r.(?)" "p.(Arg184Pro)" "" "0000351014" "00000993" "90" "-23" "1" "-23" "1" "c.-23+1G>A" "r.spl?" "p.?" "1i" "0000405959" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "" "0000405960" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000405980" "00000993" "90" "232" "0" "232" "0" "c.232G>T" "r.(?)" "p.(Ala78Ser)" "2" "0000405983" "00000993" "10" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "2" "0000406040" "00000993" "70" "569" "0" "569" "0" "c.569T>A" "r.(?)" "p.(Val190Asp)" "2" "0000406042" "00000993" "99" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000406044" "00000993" "90" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Cys211Tyr)" "2" "0000406057" "00000993" "90" "232" "0" "232" "0" "c.232dup" "r.(?)" "p.(Ala78Glyfs*24)" "2" "0000406058" "00000993" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "2" "0000406359" "00000993" "10" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "2" "0000406360" "00000993" "10" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "2" "0000406366" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000406368" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "" "0000406369" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "" "0000406370" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000407805" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407806" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407807" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407808" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407809" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407810" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407811" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407812" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407813" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407814" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407815" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407816" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407817" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407818" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407819" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407820" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407821" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407822" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407823" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407824" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407825" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407826" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407827" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407828" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407829" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407830" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407831" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000407832" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407833" "00000993" "70" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Glu47*)" "2" "0000407834" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407835" "00000993" "70" "229" "0" "229" "0" "c.229T>C" "r.(?)" "p.(Trp77Arg)" "2" "0000407836" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407837" "00000993" "70" "246" "0" "246" "0" "c.246C>G" "r.(?)" "p.(Ile82Met)" "2" "0000407838" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407839" "00000993" "70" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Leu90Pro)" "2" "0000407840" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407841" "00000993" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Val95Met)" "2" "0000407842" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407845" "00000993" "70" "-23" "1" "-23" "1" "c.-23+1G>A" "r.spl" "p.?" "1i" "0000407846" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407847" "00000993" "70" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "2" "0000407848" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407849" "00000993" "70" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "2" "0000407850" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407851" "00000993" "70" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "2" "0000407852" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407853" "00000993" "70" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000407854" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407855" "00000993" "70" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000407856" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407857" "00000993" "70" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000407858" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407859" "00000993" "70" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000407860" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407861" "00000993" "70" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000407862" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407863" "00000993" "70" "551" "0" "551" "0" "c.551G>C" "r.(?)" "p.(Arg184Pro)" "2" "0000407864" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407865" "00000993" "70" "551" "0" "551" "0" "c.551G>C" "r.(?)" "p.(Arg184Pro)" "2" "0000407866" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407867" "00000993" "70" "269" "0" "269" "0" "c.269dup" "r.(?)" "p.(Val91Serfs*11)" "2" "0000407868" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407870" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407872" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407874" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407876" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407878" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407880" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407882" "00000993" "79" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000407884" "00000993" "70" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Glu47*)" "2" "0000407886" "00000993" "70" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Glu47*)" "2" "0000407887" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "2" "0000407888" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "2" "0000407889" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "2" "0000407890" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "2" "0000407891" "00000993" "70" "56" "0" "56" "0" "c.56G>C" "r.(?)" "p.(Ser19Thr)" "2" "0000407892" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "2" "0000407893" "00000993" "70" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000407894" "00000993" "70" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "2" "0000407895" "00000993" "70" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000407896" "00000993" "70" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "2" "0000407897" "00000993" "30" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "2" "0000407898" "00000993" "70" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Trp8Met)" "2" "0000407901" "00000993" "70" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000407902" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000407904" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000407905" "00000993" "70" "35" "0" "35" "0" "c.35G>T" "r.(?)" "p.(Gly12Val)" "2" "0000407906" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000407907" "00000993" "70" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Glu47*)" "2" "0000407908" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "2" "0000407909" "00000993" "70" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000407910" "00000993" "70" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000407911" "00000993" "70" "551" "0" "551" "0" "c.551G>C" "r.(?)" "p.(Arg184Pro)" "2" "0000407912" "00000993" "70" "167" "0" "167" "0" "c.167del" "r.(?)" "p.(Leu56Argfs*26)" "2" "0000407913" "00000993" "70" "313" "0" "326" "0" "c.313_326del" "r.(?)" "p.(Lys105Glyfs*5)" "2" "0000407914" "00000993" "70" "250" "0" "250" "0" "c.250G>C" "r.(?)" "p.(Val84Leu)" "2" "0000407915" "00000993" "70" "35" "0" "35" "0" "c.35G>T" "r.(?)" "p.(Gly12Val)" "2" "0000407916" "00000993" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Val95Met)" "2" "0000407917" "00000993" "70" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Asn206Ser)" "2" "0000407918" "00000993" "70" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Asn206Ser)" "2" "0000407919" "00000993" "70" "358" "0" "360" "0" "c.358_360del" "r.(?)" "p.(Glu120del)" "" "0000407920" "00000993" "70" "139" "0" "139" "0" "c.139G>T" "r.(?)" "p.(Glu47*)" "2" "0000407924" "00000993" "70" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Asn206Ser)" "2" "0000407925" "00000993" "70" "358" "0" "360" "0" "c.358_360del" "r.(?)" "p.(Glu120del)" "" "0000407926" "00000993" "70" "313" "0" "326" "0" "c.313_326del" "r.(?)" "p.(Lys105Glyfs*5)" "2" "0000407927" "00000993" "30" "24" "0" "24" "0" "c.24G>A" "r.(=)" "p.(=)" "2" "0000407928" "00000993" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "2" "0000407929" "00000993" "30" "249" "0" "249" "0" "c.249C>G" "r.(?)" "p.(Phe83Leu)" "2" "0000407930" "00000993" "30" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127His)" "2" "0000407932" "00000993" "30" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Gly160Ser)" "2" "0000407933" "00000993" "30" "487" "0" "487" "0" "c.487A>G" "r.(?)" "p.(Met163Val)" "2" "0000407934" "00000993" "90" "29" "0" "29" "0" "c.29T>C" "r.(?)" "p.(Leu10Pro)" "" "0000407935" "00000993" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "2" "0000407936" "00000993" "90" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "2" "0000407937" "00000993" "90" "487" "0" "487" "0" "c.487A>C" "r.(?)" "p.(Met163Leu)" "2" "0000407938" "00000993" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "2" "0000407939" "00000993" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "2" "0000407940" "00000993" "30" "384" "0" "384" "0" "c.384C>T" "r.(=)" "p.(=)" "2" "0000472665" "00000993" "70" "-22" "-2" "-22" "-2" "c.-22-2A>C" "r.spl" "p.0?" "2" "0000472670" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(35del)" "p.(Gly12Valfs*2)" "2" "0000549912" "00000993" "30" "682" "0" "682" "0" "c.*1C>T" "r.(=)" "p.(=)" "" "0000549913" "00000993" "10" "608" "0" "608" "0" "c.608T>C" "r.(?)" "p.(Ile203Thr)" "" "0000549914" "00000993" "90" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ser199Phe)" "" "0000549915" "00000993" "90" "548" "0" "548" "0" "c.548C>T" "r.(?)" "p.(Ser183Phe)" "" "0000549916" "00000993" "30" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "0000549917" "00000993" "50" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Val167Met)" "" "0000549919" "00000993" "50" "425" "0" "425" "0" "c.425T>C" "r.(?)" "p.(Phe142Ser)" "" "0000549920" "00000993" "50" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Ser139Asn)" "" "0000549922" "00000993" "90" "313" "0" "326" "0" "c.313_326del" "r.(?)" "p.(Lys105GlyfsTer5)" "" "0000549923" "00000993" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Val95Met)" "" "0000549924" "00000993" "70" "246" "0" "246" "0" "c.246C>G" "r.(?)" "p.(Ile82Met)" "" "0000549925" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000549926" "00000993" "90" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Trp44Ter)" "" "0000549927" "00000993" "50" "126" "0" "126" "0" "c.126G>T" "r.(?)" "p.(Glu42Asp)" "" "0000549928" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000549929" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000549930" "00000993" "70" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Met34Ile)" "" "0000549931" "00000993" "90" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000549933" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000549934" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000549935" "00000993" "30" "24" "0" "24" "0" "c.24G>A" "r.(?)" "p.(Thr8=)" "" "0000549936" "00000993" "10" "-15" "0" "-15" "0" "c.-15C>T" "r.(?)" "p.(=)" "" "0000614510" "00000993" "50" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Asp159Asn)" "" "0000614511" "00000993" "70" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Glu147Lys)" "" "0000614512" "00000993" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ile71=)" "" "0000614513" "00000993" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Val52=)" "" "0000614514" "00000993" "30" "84" "0" "84" "0" "c.84C>T" "r.(?)" "p.(Leu28=)" "" "0000614515" "00000993" "70" "35" "0" "35" "0" "c.35G>T" "r.(?)" "p.(Gly12Val)" "" "0000648702" "00000993" "70" "456" "0" "456" "0" "c.456C>A" "r.(?)" "p.(Tyr152*)" "" "0000648703" "00000993" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Gln124*)" "" "0000648704" "00000993" "90" "313" "0" "326" "0" "c.313_326del" "r.(?)" "p.(Lys105Glyfs*5)" "" "0000648705" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77*)" "" "0000648706" "00000993" "90" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "" "0000648707" "00000993" "50" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Leu36Pro)" "" "0000648708" "00000993" "10" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "" "0000648709" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "" "0000648710" "00000993" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000648711" "00000993" "90" "-23" "1" "-23" "1" "c.-23+1G>A" "r.spl?" "p.?" "" "0000653115" "00000993" "50" "487" "0" "487" "0" "c.487A>G" "r.(?)" "p.(Met163Val)" "" "0000653116" "00000993" "90" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Arg32His)" "" "0000653319" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000657255" "00000993" "50" "670" "0" "670" "0" "c.670A>C" "r.(?)" "p.(Lys224Gln)" "" "0000657256" "00000993" "10" "608" "0" "608" "0" "c.608T>C" "r.(?)" "p.(Ile203Thr)" "" "0000657257" "00000993" "50" "400" "0" "400" "0" "c.400T>C" "r.(?)" "p.(Trp134Arg)" "" "0000657258" "00000993" "70" "119" "0" "119" "0" "c.119C>G" "r.(?)" "p.(Ala40Gly)" "" "0000657259" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000657260" "00000993" "70" "16" "0" "16" "0" "c.16C>G" "r.(?)" "p.(Leu6Val)" "" "0000659699" "00000993" "90" "31" "0" "68" "0" "c.31_68del" "r.(?)" "p.(Gly11Leufs*24)" "" "0000659743" "00000993" "90" "299" "0" "300" "0" "c.299_300del" "r.(?)" "p.(His100Argfs*14)" "" "0000669210" "00000993" "10" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "" "0000679735" "00000993" "90" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ser199Phe)" "" "0000679736" "00000993" "90" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Leu90Pro)" "" "0000679737" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79CysfsTer3)" "" "0000679738" "00000993" "90" "176" "0" "191" "0" "c.176_191del" "r.(?)" "p.(Gly59AlafsTer18)" "" "0000679739" "00000993" "30" "-22" "-6" "-22" "-6" "c.-22-6T>C" "r.(=)" "p.(=)" "" "0000684787" "00000993" "30" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000686160" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "" "0000686165" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "" "0000691483" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000694112" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000698975" "00000993" "70" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000698976" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79Cysfs*3)" "" "0000704060" "00000993" "70" "241" "0" "241" "0" "c.241C>G" "r.(?)" "p.(Leu81Val)" "" "0000710716" "00000993" "70" "239" "0" "239" "0" "c.239A>C" "r.(?)" "p.(Gln80Pro)" "" "0000714135" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "" "0000714136" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "" "0000714137" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "" "0000714138" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "" "0000714139" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77*)" "" "0000714140" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77*)" "" "0000714141" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79Cysfs*3)" "" "0000714142" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "" "0000714143" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "" "0000714144" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "" "0000714145" "00000993" "90" "310" "0" "323" "0" "c.310_323del" "r.(?)" "p.(Arg104Glyfs*6)" "" "0000724377" "00000993" "50" "670" "0" "670" "0" "c.670A>C" "r.(?)" "p.(Lys224Gln)" "" "0000724378" "00000993" "70" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Ser139Asn)" "" "0000724379" "00000993" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Glu119Lys)" "" "0000724380" "00000993" "90" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "" "0000724381" "00000993" "50" "136" "0" "136" "0" "c.136G>T" "r.(?)" "p.(Asp46Tyr)" "" "0000729364" "00000993" "70" "605" "0" "605" "0" "c.605G>T" "r.(?)" "p.(Cys202Phe)" "" "0000759744" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*2)" "2" "0000759745" "00000993" "70" "79" "0" "82" "0" "c.79_82delinsAGA" "r.(?)" "p.(Val27Argfs*8)" "2" "0000759906" "00000993" "70" "94" "0" "94" "0" "c.94C>G" "r.(?)" "p.(Arg32Gly)" "" "0000763568" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "" "0000788241" "00000993" "50" "626" "0" "626" "0" "c.626A>G" "r.(?)" "p.(Glu209Gly)" "" "0000806040" "00000993" "50" "488" "0" "488" "0" "c.488T>G" "r.(?)" "p.(Met163Arg)" "" "0000806041" "00000993" "50" "217" "0" "217" "0" "c.217C>A" "r.(?)" "p.(His73Asn)" "" "0000815034" "00000993" "70" "521" "0" "521" "0" "c.521G>C" "r.(?)" "p.(Cys174Ser)" "" "0000830857" "00000993" "70" "299" "0" "300" "0" "c.299_300del" "r.(?)" "p.(His100ArgfsTer14)" "" "0000830869" "00000993" "90" "299" "0" "300" "0" "c.299_300del" "r.(?)" "p.(His100ArgfsTer14)" "" "0000830871" "00000993" "70" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79CysfsTer3)" "" "0000830872" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79CysfsTer3)" "" "0000833845" "00000993" "90" "35" "0" "35" "0" "c.35delG" "r.(?)" "p.(Gly12Valfs*2)" "" "0000853587" "00000993" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Glu119Lys)" "" "0000853588" "00000993" "30" "11" "0" "11" "0" "c.11G>A" "r.(?)" "p.(Gly4Asp)" "" "0000863232" "00000993" "70" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000869060" "00000993" "70" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000869101" "00000993" "70" "-23" "1" "-23" "1" "c.-23+1G>A" "r.spl" "p.?" "" "0000871257" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000871652" "00000993" "10" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "2" "0000872773" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "2" "0000872776" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24*)" "2" "0000873065" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79Cysfs*3)" "" "0000874566" "00000993" "10" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Val27Ile)" "2" "0000881227" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000881318" "00000993" "70" "524" "0" "524" "0" "c.524C>G" "r.(?)" "p.(Pro175Arg)" "" "0000881370" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000890900" "00000993" "90" "449" "0" "449" "0" "c.449del" "r.(?)" "p.(Phe150Serfs*18)" "" "0000890901" "00000993" "50" "389" "0" "389" "0" "c.389G>C" "r.(?)" "p.(Gly130Ala)" "" "0000890902" "00000993" "50" "280" "0" "280" "0" "c.280C>G" "r.(?)" "p.(His94Asp)" "" "0000890903" "00000993" "50" "200" "0" "200" "0" "c.200A>G" "r.(?)" "p.(His67Arg)" "" "0000909295" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909298" "00000993" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "2" "0000909309" "00000993" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "2" "0000909310" "00000993" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "2" "0000909311" "00000993" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "2" "0000909312" "00000993" "90" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(p.(Trp44Ter)" "2" "0000909313" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909314" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909315" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909316" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909317" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909318" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909319" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909320" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909321" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909322" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909323" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909324" "00000993" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Cys)" "" "0000909325" "00000993" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "" "0000909326" "00000993" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Trp)" "2" "0000909327" "00000993" "90" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Trp44Ter)" "2" "0000909863" "00000993" "90" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Asp50Asn)" "" "0000909864" "00000993" "90" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Asp50Asn)" "" "0000909906" "00000993" "50" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Val167Met)" "" "0000920218" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000925741" "00000993" "50" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Thr86Met)" "" "0000927508" "00000993" "90" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000943908" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79Cysfs*3)" "" "0000943909" "00000993" "90" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Glu147Lys)" "" "0000943910" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79Cysfs*3)" "" "0000943911" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79Cysfs*3)" "" "0000943912" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79Cysfs*3)" "" "0000943913" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79Cysfs*3)" "" "0000943914" "00000993" "90" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Arg143Gln)" "" "0000943921" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79Cysfs*3)" "9" "0000943922" "00000993" "90" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79Cysfs*3)" "11" "0000943946" "00000993" "30" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0000944007" "00000993" "90" "-23" "1" "-23" "1" "c.-23+1G>A" "r.spl" "p.?" "" "0000944008" "00000993" "90" "-23" "1" "-23" "1" "c.-23+1G>A" "r.spl" "p.?" "" "0000944009" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000944010" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000944011" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000944012" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000944013" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000944014" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000944015" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000944016" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944017" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944018" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944019" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944020" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944021" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944022" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944023" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944024" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944025" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944026" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944027" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944028" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944029" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944030" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944031" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944032" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944033" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944034" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944035" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944036" "00000993" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "" "0000944037" "00000993" "90" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "" "0000944038" "00000993" "90" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "" "0000944039" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944040" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944041" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944042" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944043" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944044" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944045" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944046" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944047" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944048" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944049" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944050" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944051" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944052" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944053" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944054" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944055" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944056" "00000993" "90" "355" "0" "355" "0" "c.355G>T" "r.(?)" "p.(Glu119Ter)" "" "0000944057" "00000993" "90" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000944058" "00000993" "90" "457" "0" "457" "0" "c.457G>A" "r.(?)" "p.(Val153Ile)" "" "0000944277" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944278" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944381" "00000993" "90" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000944382" "00000993" "90" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000944383" "00000993" "90" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000944448" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000944449" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000944483" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944484" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944485" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944486" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944487" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944488" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944489" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944490" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0000944491" "00000993" "90" "358" "0" "360" "0" "c.358_360del" "r.(?)" "p.(Glu120del)" "" "0000944523" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000944524" "00000993" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "" "0000950065" "00000993" "90" "299" "0" "300" "0" "c.299_300del" "r.(?)" "p.(His100Argfs*14)" "" "0000958528" "00000993" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12ValfsTer2)" "" "0000959795" "00000993" "90" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000980581" "00000993" "50" "585" "0" "585" "0" "c.585G>A" "r.(?)" "p.(Met195Ile)" "" "0000980582" "00000993" "90" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Leu90Pro)" "" "0000980583" "00000993" "90" "101" "0" "101" "0" "c.101T>C" "r.(?)" "p.(Met34Thr)" "" "0000980584" "00000993" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Trp24Ter)" "" "0001000463" "00000993" "50" "382" "0" "382" "0" "c.382A>G" "r.(?)" "p.(Ile128Val)" "" "0001000464" "00000993" "90" "358" "0" "360" "0" "c.358_360del" "r.(?)" "p.(Glu120del)" "" "0001000465" "00000993" "70" "235" "0" "235" "0" "c.235del" "r.(?)" "p.(Leu79CysfsTer3)" "" "0001000466" "00000993" "50" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Thr8Met)" "" "0001000467" "00000993" "30" "-1" "0" "-1" "0" "c.-1G>A" "r.(?)" "p.(=)" "" "0001017456" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Val37Ile)" "" "0001026261" "00000993" "50" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Gly160Ser)" "" "0001026262" "00000993" "50" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Cys60Phe)" "" "0001039597" "00000993" "50" "670" "0" "670" "0" "c.670A>C" "r.(?)" "p.(Lys224Gln)" "" "0001039598" "00000993" "50" "663" "0" "663" "0" "c.663G>C" "r.(?)" "p.(Lys221Asn)" "" "0001039599" "00000993" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0001039600" "00000993" "70" "-22" "-2" "-22" "-2" "c.-22-2A>C" "r.spl?" "p.?" "" "0001044979" "00000993" "90" "109" "0" "109" "0" "c.109G>A" "r,(?)" "p.(Val37Ile)" "" "0001044980" "00000993" "90" "235" "0" "235" "0" "c.235del" "r,(?)" "p.(Leu79CysfsTer3)" "" "0001044981" "00000993" "90" "299" "0" "300" "0" "c.299_300del" "r,(?)" "p.(His100ArgfsTer14)" "" "0001044982" "00000993" "90" "427" "0" "427" "0" "c.427C>T" "r,(?)" "p.(Arg143Trp)" "" "0001044983" "00000993" "90" "508" "0" "511" "0" "c.508_511dup" "r,(?)" "p.(Ala171GlufsTer40)" "" "0001044984" "00000993" "90" "176" "0" "191" "0" "c.176_191del" "r,(?)" "p.(Gly59AlafsTer18)" "" "0001044985" "00000993" "90" "95" "0" "95" "0" "c.95G>A" "r,(?)" "p.(Arg32His)" "" "0001044986" "00000993" "90" "107" "0" "107" "0" "c.107T>C" "r,(?)" "p.(Leu36Pro)" "" "0001044987" "00000993" "90" "571" "0" "571" "0" "c.571T>C" "r,(?)" "p.(Phe191Leu)" "" "0001044988" "00000993" "90" "263" "0" "263" "0" "c.263C>T" "r,(?)" "p.(Ala88Val)" "" "0001044989" "00000993" "90" "428" "0" "428" "0" "c.428G>A" "r,(?)" "p.(Arg143Gln)" "" "0001044990" "00000993" "90" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75Gln)" "" "0001046414" "00000993" "50" "250" "0" "250" "0" "c.250G>T" "r.(?)" "p.(Val84Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 416 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005257" "0000024111" "0000046548" "0000024112" "0000046549" "0000024113" "0000046550" "0000024118" "0000046555" "0000043997" "0000071784" "0000043999" "0000071787" "0000044006" "0000071793" "0000044007" "0000071797" "0000044008" "0000071799" "0000044008" "0000071800" "0000046720" "0000075167" "0000050543" "0000079523" "0000059117" "0000089914" "0000060243" "0000091306" "0000060244" "0000091243" "0000080104" "0000128982" "0000080104" "0000128983" "0000080105" "0000128984" "0000080105" "0000128985" "0000080107" "0000128988" "0000080107" "0000128989" "0000080118" "0000129009" "0000080118" "0000129010" "0000080124" "0000129020" "0000080124" "0000129021" "0000080125" "0000129022" "0000080125" "0000129023" "0000080128" "0000129026" "0000080128" "0000129027" "0000080130" "0000129029" "0000080130" "0000129030" "0000080136" "0000129044" "0000080136" "0000129045" "0000081184" "0000130270" "0000092383" "0000150685" "0000104496" "0000169378" "0000117693" "0000188667" "0000117693" "0000188668" "0000117694" "0000188669" "0000117695" "0000188671" "0000117696" "0000188672" "0000117697" "0000188673" "0000117698" "0000188674" "0000117698" "0000188675" "0000117699" "0000188676" "0000117699" "0000188677" "0000117700" "0000188678" "0000117701" "0000188679" "0000117702" "0000188680" "0000117703" "0000188681" "0000117703" "0000188682" "0000117704" "0000188683" "0000117705" "0000188685" "0000117705" "0000188686" "0000117706" "0000188687" "0000117707" "0000188688" "0000117708" "0000188689" "0000117708" "0000188690" "0000117709" "0000188691" "0000117710" "0000188692" "0000117710" "0000188693" "0000117711" "0000188694" "0000117712" "0000188696" "0000117713" "0000188697" "0000117714" "0000188698" "0000117714" "0000188699" "0000117715" "0000188700" "0000117716" "0000188701" "0000117716" "0000188702" "0000117717" "0000188703" "0000117718" "0000188704" "0000117719" "0000188705" "0000117719" "0000188706" "0000117720" "0000188707" "0000117720" "0000188708" "0000117721" "0000188709" "0000117721" "0000188710" "0000117722" "0000188711" "0000117722" "0000188712" "0000117723" "0000188713" "0000117724" "0000188714" "0000117725" "0000188715" "0000117725" "0000188716" "0000117726" "0000188717" "0000117727" "0000188718" "0000117727" "0000188719" "0000117728" "0000188720" "0000117729" "0000188721" "0000117729" "0000188722" "0000117730" "0000188723" "0000117730" "0000188724" "0000117731" "0000188725" "0000117733" "0000188727" "0000117734" "0000188728" "0000117734" "0000188729" "0000117735" "0000188730" "0000117735" "0000188731" "0000117736" "0000188732" "0000117736" "0000188733" "0000117737" "0000188734" "0000117737" "0000188735" "0000117738" "0000188736" "0000117739" "0000188737" "0000117740" "0000188738" "0000117741" "0000188739" "0000117742" "0000188740" "0000117742" "0000188741" "0000117746" "0000188748" "0000117755" "0000188763" "0000133127" "0000943946" "0000171677" "0000694112" "0000182128" "0000405959" "0000182128" "0000405960" "0000182140" "0000405980" "0000182140" "0000405983" "0000182166" "0000406040" "0000182166" "0000406042" "0000182166" "0000406360" "0000182168" "0000406044" "0000182180" "0000406057" "0000182180" "0000406058" "0000182180" "0000406359" "0000182475" "0000406366" "0000182477" "0000406368" "0000182478" "0000406369" "0000182479" "0000406370" "0000183916" "0000407805" "0000183917" "0000407806" "0000183918" "0000407807" "0000183919" "0000407808" "0000183920" "0000407809" "0000183921" "0000407810" "0000183922" "0000407811" "0000183923" "0000407812" "0000183924" "0000407813" "0000183925" "0000407814" "0000183926" "0000407815" "0000183927" "0000407816" "0000183928" "0000407817" "0000183929" "0000407818" "0000183930" "0000407819" "0000183931" "0000407820" "0000183932" "0000407821" "0000183933" "0000407822" "0000183934" "0000407823" "0000183935" "0000407824" "0000183936" "0000407825" "0000183937" "0000407826" "0000183938" "0000407827" "0000183939" "0000407828" "0000183940" "0000407829" "0000183941" "0000407830" "0000183942" "0000407831" "0000183942" "0000407832" "0000183943" "0000407833" "0000183943" "0000407834" "0000183944" "0000407835" "0000183944" "0000407836" "0000183945" "0000407837" "0000183945" "0000407838" "0000183946" "0000407839" "0000183946" "0000407840" "0000183947" "0000407841" "0000183947" "0000407842" "0000183949" "0000407845" "0000183949" "0000407846" "0000183950" "0000407847" "0000183950" "0000407848" "0000183950" "0000407939" "0000183951" "0000407849" "0000183951" "0000407850" "0000183952" "0000407851" "0000183952" "0000407852" "0000183952" "0000407938" "0000183953" "0000407853" "0000183953" "0000407854" "0000183954" "0000407855" "0000183954" "0000407856" "0000183955" "0000407857" "0000183955" "0000407858" "0000183956" "0000407859" "0000183956" "0000407860" "0000183957" "0000407861" "0000183957" "0000407862" "0000183957" "0000407940" "0000183958" "0000407863" 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