### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DFNB31) # 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}}" "DFNB31" "deafness, autosomal recessive 31" "9" "q32" "unknown" "NC_000009.11" "UD_132118979395" "{PMID:Roux 2011:21436283}" "https://www.LOVD.nl/WHRN" "KMeyeDB \r\nCCMHC Molecular Genetics Laboratory Mutation Database \r\nUSMA (Usher Syndrome Missense Analysis) \r\nDeafness Variation Database \r\nMoBiDiC " "1" "16361" "25861" "607928" "1" "1" "1" "1" "NOTE: gene name changed from DFNB31 to WHRN.\r\nThe database is curated by the Montpellier Usher group.
You can directly access the WHRN database using: www.LOVD.nl/WHRN
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DFNB31_codingDNA.html" "1" "" "

\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”.NOTE: gene name changed from DFNB31 to WHRN." "-1" "" "-1" "00001" "2010-03-02 00:00:00" "00006" "2018-10-21 20:58:17" "00000" "2024-12-02 13:09:03" ## 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}}" "00006350" "DFNB31" "transcript variant 1" "002" "NM_015404.3" "" "NP_056219.3" "" "" "" "-655" "3398" "2724" "117267736" "117164360" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00096" "FTD" "dementia, frontotemporal (FTD)" "AD" "600274" "" "" "" "00008" "2012-12-10 14:01:50" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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" "02115" "USH1" "Usher syndrome, type I (USH-1)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-11 13:56:28" "02628" "DFNB31" "deafness, autosomal recessive, type 31 (DFNB-31)" "AR" "607084" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02908" "DFNB49" "deafness, autosomal recessive, type 49 (DFNB-49)" "AR" "610153" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03024" "USH2D" "Usher syndrome, type 2D (USH-2D)" "AR" "611383" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05414" "USH2" "Usher syndrome, type II (USH-2)" "" "" "" "" "" "00006" "2018-04-02 14:40:34" "00006" "2021-12-11 13:56:28" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05981" "USH1" "Usher syndrome, type I" "" "276903" "" "" "" "00110" "2021-10-25 15:10:06" "00006" "2021-12-11 13:56:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DFNB31" "02628" "DFNB31" "03024" ## Individuals ## Do not remove or alter this header ## ## Count = 129 "{{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}}" "00059139" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00163274" "" "" "" "1" "" "02416" "" "proband" "M" "" "France" "" "0" "" "" "" "" "00163275" "" "" "" "1" "" "02416" "{PMID:Besnard et al., 2011:22147658}" "proband" "F" "" "Portugal" "" "0" "" "" "" "" "00163276" "" "" "" "1" "" "02416" "{PMID:Bonnet et al., 2011:21569298}" "proband" "M" "" "" "" "0" "" "" "" "" "00163277" "" "" "" "1" "" "02417" "{PMID:Jaijo et al., 2010:19683999}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163278" "" "" "" "20" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163279" "" "" "" "71" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163280" "" "" "" "1" "" "02416" "{PMID:Rong et al., 2014:24831256}" "proband" "M" "" "China" "" "0" "" "" "" "" "00163281" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Netherlands" "" "0" "" "" "" "" "00163282" "" "" "" "1" "" "00110" "{PMID:Ebermann et al., 2007:17171570}" "proband" "M" "" "Germany" "" "0" "" "" "" "" "00163283" "" "" "" "1" "" "00110" "{PMID:Ebermann et al., 2007:17171570}" "relative" "F" "" "Germany" "" "0" "" "" "" "" "00163284" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163285" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163286" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163287" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163288" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163289" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163290" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163291" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Hungary" "" "0" "" "" "" "" "00163292" "" "" "" "1" "" "02416" "{PMID:Bonnet et al., 2011:21569298}" "proband" "" "" "" "" "0" "" "" "" "" "00163293" "" "" "" "1" "" "02416" "{PMID:Audo et al., 2011:21738389}" "relative" "M" "" "Portugal" "" "0" "" "" "" "" "00163294" "" "" "" "1" "" "02416" "{PMID:Audo et al., 2011:21738389}" "relative" "F" "" "Portugal" "" "0" "" "" "" "" "00163295" "" "" "" "1" "" "02416" "{PMID:Audo et al., 2011:21738389}" "proband" "F" "" "Portugal" "" "0" "" "" "" "" "00163296" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163297" "" "" "" "2" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163298" "" "" "" "1" "" "02416" "{PMID:Bujakowska et al., 2014:25468891}" "proband" "" "" "United States" "" "0" "" "" "" "" "00163299" "" "" "" "1" "" "02416" "{PMID:Jiang et al., 2015:26338283}" "proband" "M" "" "China" "" "0" "" "" "" "" "00163300" "" "" "" "14" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163301" "" "" "" "86" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163302" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Egypt" "" "0" "" "" "" "" "00163303" "" "" "" "1" "" "02416" "{PMID:Bonnet et al., 2011:21569298}" "proband" "" "" "" "" "0" "" "" "" "" "00163304" "" "" "" "1" "" "02416" "{PMID:Bujakowska et al., 2014:25468891}" "proband" "" "" "United States" "" "0" "" "" "" "" "00163305" "" "" "" "2" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Netherlands" "" "0" "" "" "" "" "00163306" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163307" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Spain" "" "0" "" "" "" "" "00163308" "" "" "" "1" "" "02416" "{PMID:Glöcke et al., 2013:23591405}" "proband" "" "" "" "" "0" "" "" "" "" "00163309" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163310" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163311" "" "" "" "2" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Spain" "" "0" "" "" "" "" "00163312" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163313" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "proband" "M" "" "France" "" "0" "" "" "" "" "00163314" "" "" "" "1" "" "02416" "{PMID:Ben-Salem et al., 2014:24194196}" "proband" "M" "" "United Arab Emirates" "" "0" "" "" "" "" "00163315" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "proband" "" "" "China" "" "0" "" "" "" "" "00163316" "" "" "" "16" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163317" "" "" "" "55" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163318" "" "" "" "1" "" "02416" "{PMID:Rong et al., 2014:24831256}" "proband - variants found in samples of two affected brothers. They carry the same causative mutations in MYO7A, but other variants cannot be discriminated from the publication." "M" "" "China" "" "0" "" "" "" "" "00163319" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Hungary" "" "0" "" "" "" "" "00163320" "" "" "" "1" "" "00110" "{PMID:Tlili et al., 2005:15841483}" "proband" "M" "" "Tunisia" "" "0" "" "" "" "" "00163321" "" "" "" "1" "" "00110" "{PMID:Tlili et al., 2005:15841483}" "relative" "F" "" "Tunisia" "" "0" "" "" "" "" "00163322" "" "" "" "1" "" "00110" "{PMID:Tlili et al., 2005:15841483}" "relative" "F" "" "Tunisia" "" "0" "" "" "" "" "00163323" "" "" "" "1" "" "00110" "{PMID:Tlili et al., 2005:15841483}" "relative" "F" "" "Tunisia" "" "0" "" "" "" "" "00163324" "" "" "" "96" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163325" "" "" "" "71" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163326" "" "" "" "1" "" "02416" "{PMID:Rong et al., 2014:24831256}" "proband" "F" "" "China" "" "0" "" "" "" "" "00163327" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163328" "" "" "" "8" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163329" "" "" "" "61" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163330" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163331" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Spain" "" "0" "" "" "" "" "00163332" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163333" "" "" "" "2" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Spain" "" "0" "" "" "" "" "00163334" "" "" "" "15" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Spain" "" "0" "" "" "" "" "00163335" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163336" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163337" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163338" "" "" "" "4" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163339" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163340" "" "" "" "10" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163341" "" "" "" "5" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163342" "" "" "" "19" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163343" "" "" "" "1" "" "02416" "{PMID:Glöcke et al., 2013:23591405}" "proband" "" "" "" "" "0" "" "" "" "" "00163344" "" "" "" "2" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163345" "" "" "" "35" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163346" "" "" "" "45" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163347" "" "" "" "89" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163348" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Egypt" "" "0" "" "" "" "" "00163349" "" "" "" "6" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163350" "" "" "" "6" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163351" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Spain" "" "0" "" "" "" "" "00163352" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163353" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Hungary" "" "0" "" "" "" "" "00163354" "" "" "" "1" "" "02416" "{PMID:Aparisi et al., 2014:25404053}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163355" "" "" "" "8" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163356" "" "" "" "3" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Netherlands" "" "0" "" "" "" "" "00163357" "" "" "" "3" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163358" "" "" "" "24" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163359" "" "" "" "2" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163360" "" "" "" "1" "" "00110" "{PMID:Mburu et al., 2003:12833159}" "proband" "F" "" "Jordan" "" "0" "" "" "" "" "00163361" "" "" "" "1" "" "00110" "{PMID:Mburu et al., 2003:12833159}" "relative" "M" "" "Jordan" "" "0" "" "" "" "" "00163362" "" "" "" "1" "" "00110" "{PMID:Mburu et al., 2003:12833159}" "relative" "F" "" "Jordan" "" "0" "" "" "" "" "00163363" "" "" "" "1" "" "00110" "{PMID:Mburu et al., 2003:12833159}" "relative" "F" "" "Jordan" "" "0" "" "" "" "" "00163364" "" "" "" "1" "" "00110" "{PMID:Mburu et al., 2003:12833159}" "relative" "M" "" "Jordan" "" "0" "" "" "" "" "00163365" "" "" "" "1" "" "00110" "{PMID:Mburu et al., 2003:12833159}" "relative" "M" "" "Jordan" "" "0" "" "" "" "" "00163366" "" "" "" "30" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163367" "" "" "" "93" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163368" "" "" "" "11" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163369" "" "" "" "63" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163370" "" "" "" "5" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163371" "" "" "" "19" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "" "" "0" "" "" "" "" "00163372" "" "" "" "12" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Spain" "" "0" "" "" "" "" "00163373" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Germany" "" "0" "" "" "" "" "00163374" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163375" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163376" "" "" "" "1" "" "02416" "{PMID:Aller et al., 2010:20352026}" "proband - No genotype in the publication" "" "" "Spain" "" "0" "" "" "" "" "00183263" "" "" "" "1" "" "00006" "Baradaran-Heravi ASHG2018 P2366" "" "" "" "" "" "1" "" "" "" "ASHG-P2366" "00294721" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294722" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294723" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294724" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294725" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294726" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294727" "" "" "" "199" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305217" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00335972" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00359260" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12015458" "00372634" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP230" "00373507" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "" "" "China" "" "0" "" "" "" "RH5" "00377957" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "affected sister also both variants but both come from father, no other variant in lower covered region." "" "" "" "" "0" "" "" "" "" "00381162" "" "" "" "1" "" "00008" "{PMID:Nishiguchi-2013:24043777}" "" "F" "yes" "" "" "0" "" "" "Japanese" "" "00382625" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "488" "00386579" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "003-082" "00387202" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00388031" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27788217}" "Affected sibling is homozygous for p.E137fs" "M" "" "United States" "" "0" "" "" "" "6" "00394761" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394762" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00411659" "" "" "" "1" "" "00000" "{PMID:Audo 2011:21738389}" "" "F" "yes" "(France)" "" "0" "" "" "Portuguese" "II-3" "00428324" "" "" "" "3" "" "04147" "{PMID:Taghipour-Sheshdeh 2019:29752989}" "5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "Arab" "FamPat22" "00441458" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4171" "00447643" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "USHII-352" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 129 "{{individualid}}" "{{diseaseid}}" "00059139" "00531" "00163274" "05414" "00163275" "05414" "00163276" "05414" "00163277" "05414" "00163278" "00198" "00163279" "00198" "00163280" "02115" "00163281" "00198" "00163282" "05414" "00163283" "05414" "00163284" "05414" "00163285" "05414" "00163286" "02115" "00163287" "02115" "00163288" "05414" "00163289" "02115" "00163290" "02115" "00163291" "00198" "00163292" "05414" "00163293" "05414" "00163294" "05414" "00163295" "05414" "00163296" "05414" "00163297" "00198" "00163298" "02115" "00163299" "05414" "00163300" "00198" "00163301" "00198" "00163302" "00198" "00163303" "05414" "00163304" "02115" "00163305" "00198" "00163306" "05414" "00163307" "05103" "00163308" "05415" "00163309" "05414" "00163310" "05414" "00163311" "00198" "00163312" "02115" "00163313" "05414" "00163314" "05400" "00163315" "05400" "00163316" "00198" "00163317" "00198" "00163318" "05414" "00163319" "00198" "00163320" "05400" "00163321" "05400" "00163322" "05400" "00163323" "05400" "00163324" "00198" "00163325" "00198" "00163326" "02115" "00163327" "05414" "00163328" "00198" "00163329" "00198" "00163330" "05414" "00163331" "00198" "00163332" "05415" "00163333" "00198" "00163334" "00198" "00163335" "05414" "00163336" "02115" "00163337" "02115" "00163338" "00198" "00163339" "00198" "00163340" "00198" "00163341" "00198" "00163342" "00198" "00163343" "02115" "00163344" "00198" "00163345" "00198" "00163346" "00198" "00163347" "00198" "00163348" "00198" "00163349" "00198" "00163350" "00198" "00163351" "00198" "00163352" "05414" "00163353" "00198" "00163354" "05414" "00163355" "00198" "00163356" "00198" "00163357" "00198" "00163358" "00198" "00163359" "00198" "00163360" "05400" "00163361" "05400" "00163362" "05400" "00163363" "05400" "00163364" "05400" "00163365" "05400" "00163366" "00198" "00163367" "00198" "00163368" "00198" "00163369" "00198" "00163370" "00198" "00163371" "00198" "00163372" "00198" "00163373" "00198" "00163374" "05414" "00163375" "05414" "00163376" "00198" "00183263" "00096" "00294721" "00198" "00294722" "00198" "00294723" "00198" "00294724" "00198" "00294725" "00198" "00294726" "00198" "00294727" "00198" "00305217" "00198" "00335972" "04214" "00359260" "04214" "00372634" "04214" "00373507" "04214" "00377957" "04214" "00381162" "04214" "00382625" "04214" "00386579" "04214" "00387202" "05981" "00388031" "04214" "00394761" "04214" "00394762" "04214" "00411659" "04214" "00428324" "02908" "00441458" "05086" "00447643" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00096, 00198, 00531, 02115, 02628, 02908, 03024, 04214, 05086, 05103, 05400, 05414, 05415, 05981 ## Count = 118 "{{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}}" "0000128411" "05414" "00163274" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128412" "05414" "00163275" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128413" "05414" "00163276" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128414" "05414" "00163277" "02417" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128415" "00198" "00163278" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128416" "00198" "00163279" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128417" "02115" "00163280" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128418" "00198" "00163281" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128419" "05414" "00163282" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128420" "05414" "00163283" "00110" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128421" "05414" "00163284" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128422" "05414" "00163285" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128423" "02115" "00163286" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128424" "02115" "00163287" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128425" "05414" "00163288" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128426" "02115" "00163289" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128427" "02115" "00163290" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128428" "00198" "00163291" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128429" "05414" "00163292" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128430" "05414" "00163293" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128431" "05414" "00163294" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128432" "05414" "00163295" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128433" "05414" "00163296" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128434" "00198" "00163297" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128435" "02115" "00163298" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128436" "05414" "00163299" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128437" "00198" "00163300" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128438" "00198" "00163301" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128439" "00198" "00163302" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128440" "05414" "00163303" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128441" "02115" "00163304" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128442" "00198" "00163305" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128443" "05414" "00163306" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128444" "05103" "00163307" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000128445" "05415" "00163308" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher, atypical" "" "0000128446" "05414" "00163309" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128447" "05414" "00163310" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128448" "00198" "00163311" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128449" "02115" "00163312" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128450" "05414" "00163313" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128451" "05400" "00163314" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal recessive (DFNB)" "" "0000128452" "05400" "00163315" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-31" "deafness, autosomal recessive (DFNB)" "" "0000128453" "00198" "00163316" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128454" "00198" "00163317" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128455" "05414" "00163318" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128456" "00198" "00163319" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128457" "05400" "00163320" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-31" "deafness, autosomal recessive (DFNB)" "" "0000128458" "05400" "00163321" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-31" "deafness, autosomal recessive (DFNB)" "" "0000128459" "05400" "00163322" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-31" "deafness, autosomal recessive (DFNB)" "" "0000128460" "05400" "00163323" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-31" "deafness, autosomal recessive (DFNB)" "" "0000128461" "00198" "00163324" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128462" "00198" "00163325" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128463" "02115" "00163326" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128464" "05414" "00163327" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128465" "00198" "00163328" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128466" "00198" "00163329" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128467" "05414" "00163330" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128468" "00198" "00163331" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128469" "05415" "00163332" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher, atypical" "" "0000128470" "00198" "00163333" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128471" "00198" "00163334" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128472" "05414" "00163335" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128473" "02115" "00163336" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128474" "02115" "00163337" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128475" "00198" "00163338" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128476" "00198" "00163339" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128477" "00198" "00163340" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128478" "00198" "00163341" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128479" "00198" "00163342" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128480" "02115" "00163343" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128481" "00198" "00163344" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128482" "00198" "00163345" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128483" "00198" "00163346" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128484" "00198" "00163347" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128485" "00198" "00163348" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128486" "00198" "00163349" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128487" "00198" "00163350" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128488" "00198" "00163351" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128489" "05414" "00163352" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128490" "00198" "00163353" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128491" "05414" "00163354" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128492" "00198" "00163355" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128493" "00198" "00163356" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128494" "00198" "00163357" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128495" "00198" "00163358" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128496" "00198" "00163359" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128497" "05400" "00163360" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-31" "deafness, autosomal recessive (DFNB)" "" "0000128498" "05400" "00163361" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-31" "deafness, autosomal recessive (DFNB)" "" "0000128499" "05400" "00163362" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-31" "deafness, autosomal recessive (DFNB)" "" "0000128500" "05400" "00163363" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-31" "deafness, autosomal recessive (DFNB)" "" "0000128501" "05400" "00163364" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-31" "deafness, autosomal recessive (DFNB)" "" "0000128502" "05400" "00163365" "00110" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-31" "deafness, autosomal recessive (DFNB)" "" "0000128503" "00198" "00163366" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128504" "00198" "00163367" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128505" "00198" "00163368" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128506" "00198" "00163369" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128507" "00198" "00163370" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128508" "00198" "00163371" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128509" "00198" "00163372" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128510" "00198" "00163373" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128511" "05414" "00163374" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128512" "05414" "00163375" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "USH-2D" "Usher syndrome, type 2" "" "0000128513" "00198" "00163376" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000253887" "04214" "00335972" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254557" "04214" "00359260" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000267913" "04214" "00372634" "00000" "Isolated (sporadic)" "46y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268783" "04214" "00373507" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macula degeneration" "" "0000273103" "04214" "00377957" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone Distrophy" "" "0000275013" "04214" "00381162" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (ARRP)" "" "0000276474" "04214" "00382625" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Aland eye disease" "" "0000280379" "04214" "00386579" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281626" "04214" "00388031" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa, hearing loss" "45y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000287964" "04214" "00394761" "00000" "Familial, autosomal recessive" "78y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (US)" "" "0000287965" "04214" "00394762" "00000" "Familial, X-linked" "69y" "" "6y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000303686" "04214" "00411659" "00000" "Familial, autosomal recessive" "60y" "cataract surgery at age 47 on the right eye and at 54 on the left eye" "20y" "" "RP: night vision difficulties, visualfield constriction and a mild decrease in visual acuity" "" "" "" "" "" "Usher syndrome type 2 (USH2D)" "severe rod-cone dystrophy" "" "0000319233" "02908" "00428324" "04147" "Familial, autosomal recessive" "" "see paper; ..., bilateral hearing loss (moderate to profound)" "" "" "HP:0011474" "" "" "" "" "" "DFNB49" "non-syndromic hearing impairment" "" "0000330898" "05086" "00441458" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000336842" "00198" "00447643" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 129 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059110" "00059139" "1" "01551" "01551" "2016-02-29 09:35:35" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000164139" "00163274" "1" "02416" "00110" "2010-10-01 10:47:17" "" "" "SEQ" "DNA" "" "" "0000164140" "00163275" "1" "02416" "00110" "2011-10-07 11:39:37" "" "" "SEQ" "DNA" "" "" "0000164141" "00163276" "1" "02416" "00110" "2011-05-26 10:43:19" "" "" "SEQ" "DNA" "" "" "0000164142" "00163277" "1" "02417" "02417" "2010-03-01 09:22:55" "00110" "2014-12-10 14:40:52" "SEQ;SSCA" "DNA" "" "" "0000164143" "00163278" "1" "02416" "00110" "2010-10-25 14:48:52" "" "" "SEQ" "DNA" "" "" "0000164144" "00163279" "1" "02416" "00110" "2010-10-25 14:53:44" "00110" "2010-10-25 14:54:09" "SEQ" "DNA" "" "" "0000164145" "00163280" "1" "02416" "00110" "2014-08-04 15:55:38" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164146" "00163281" "1" "02416" "00110" "2010-10-25 15:51:48" "00110" "2010-10-25 15:52:19" "SEQ" "DNA" "" "" "0000164147" "00163282" "1" "00110" "00110" "2010-03-09 18:14:20" "00110" "2010-05-31 17:58:10" "SEQ" "DNA" "" "" "0000164148" "00163283" "1" "00110" "00110" "2010-03-09 18:15:59" "00110" "2010-05-31 17:58:10" "SEQ" "DNA" "" "" "0000164149" "00163284" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164150" "00163285" "1" "02419" "02419" "2011-09-12 16:33:22" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164151" "00163286" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164152" "00163287" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164153" "00163288" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164154" "00163289" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164155" "00163290" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164156" "00163291" "1" "02416" "00110" "2010-10-27 09:29:40" "" "" "SEQ" "DNA" "" "" "0000164157" "00163292" "1" "02416" "00110" "2011-05-26 11:15:08" "" "" "SEQ" "DNA" "" "" "0000164158" "00163293" "1" "02416" "00110" "2011-07-19 14:21:14" "" "" "SEQ" "DNA" "" "" "0000164159" "00163294" "1" "02416" "00110" "2011-07-19 14:22:35" "" "" "SEQ" "DNA" "" "" "0000164160" "00163295" "1" "02416" "00110" "2011-07-19 14:23:42" "" "" "SEQ" "DNA" "" "" "0000164161" "00163296" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164162" "00163297" "1" "02416" "00110" "2010-10-27 09:32:32" "" "" "SEQ" "DNA" "" "" "0000164163" "00163298" "1" "02416" "00110" "2015-02-10 17:21:01" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164164" "00163299" "1" "02416" "00110" "2015-10-06 09:55:21" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164165" "00163300" "1" "02416" "00110" "2010-10-27 09:37:15" "" "" "SEQ" "DNA" "" "" "0000164166" "00163301" "1" "02416" "00110" "2010-10-27 09:51:03" "" "" "SEQ" "DNA" "" "" "0000164167" "00163302" "1" "02416" "00110" "2010-10-25 15:55:35" "" "" "SEQ" "DNA" "" "" "0000164168" "00163303" "1" "02416" "00110" "2011-05-26 11:59:49" "" "" "SEQ" "DNA" "" "" "0000164169" "00163304" "1" "02416" "00110" "2015-02-10 17:41:08" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164170" "00163305" "1" "02416" "00110" "2010-10-25 15:58:26" "" "" "SEQ" "DNA" "" "" "0000164171" "00163306" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164172" "00163307" "1" "02416" "00110" "2010-10-25 16:00:47" "" "" "SEQ" "DNA" "" "" "0000164173" "00163308" "1" "02416" "00110" "2013-06-05 17:17:28" "00110" "2016-06-06 09:35:26" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164174" "00163309" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164175" "00163310" "1" "02419" "02419" "2011-10-03 16:54:26" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164176" "00163311" "1" "02416" "00110" "2010-10-27 09:53:42" "" "" "SEQ" "DNA" "" "" "0000164177" "00163312" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164178" "00163313" "1" "02416" "00110" "2013-02-11 10:56:33" "00110" "2014-02-06 10:22:53" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164179" "00163314" "1" "02416" "00110" "2014-02-25 10:22:59" "" "" "SEQ" "DNA" "" "" "0000164180" "00163315" "1" "02416" "00110" "2013-06-26 18:07:08" "00110" "2014-11-27 09:02:08" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164181" "00163316" "1" "02416" "00110" "2010-10-25 16:21:21" "" "" "SEQ" "DNA" "" "" "0000164182" "00163317" "1" "02416" "00110" "2010-10-25 16:22:41" "" "" "SEQ" "DNA" "" "" "0000164183" "00163318" "1" "02416" "00110" "2014-08-04 11:55:33" "00110" "2014-08-04 14:20:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164184" "00163319" "1" "02416" "00110" "2010-10-25 16:26:26" "" "" "SEQ" "DNA" "" "" "0000164185" "00163320" "1" "00110" "00110" "2010-03-09 17:53:50" "00110" "2010-05-31 18:00:35" "SEQ" "DNA" "" "" "0000164186" "00163321" "1" "00110" "00110" "2010-03-09 17:56:32" "00110" "2010-05-31 18:00:35" "SEQ" "DNA" "" "" "0000164187" "00163322" "1" "00110" "00110" "2010-03-09 17:59:39" "00110" "2010-05-31 18:00:35" "SEQ" "DNA" "" "" "0000164188" "00163323" "1" "00110" "00110" "2010-03-09 18:02:54" "00110" "2010-05-31 18:00:35" "SEQ" "DNA" "" "" "0000164189" "00163324" "1" "02416" "00110" "2010-10-25 14:57:53" "" "" "SEQ" "DNA" "" "" "0000164190" "00163325" "1" "02416" "00110" "2010-10-25 14:59:08" "" "" "SEQ" "DNA" "" "" "0000164191" "00163326" "1" "02416" "00110" "2014-08-04 14:53:08" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164192" "00163327" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164193" "00163328" "1" "02416" "00110" "2010-10-27 10:01:51" "" "" "SEQ" "DNA" "" "" "0000164194" "00163329" "1" "02416" "00110" "2010-10-27 10:03:08" "" "" "SEQ" "DNA" "" "" "0000164195" "00163330" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164196" "00163331" "1" "02416" "00110" "2010-10-27 09:59:32" "" "" "SEQ" "DNA" "" "" "0000164197" "00163332" "1" "02419" "02419" "2011-09-12 16:35:05" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164198" "00163333" "1" "02416" "00110" "2010-10-27 09:56:34" "" "" "SEQ" "DNA" "" "" "0000164199" "00163334" "1" "02416" "00110" "2010-10-27 09:57:35" "" "" "SEQ" "DNA" "" "" "0000164200" "00163335" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164201" "00163336" "1" "02419" "02419" "2011-10-03 16:54:04" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164202" "00163337" "1" "02419" "02419" "2011-09-12 16:34:31" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164203" "00163338" "1" "02416" "00110" "2010-10-25 15:14:49" "" "" "SEQ" "DNA" "" "" "0000164204" "00163339" "1" "02416" "00110" "2010-10-25 15:19:33" "" "" "SEQ" "DNA" "" "" "0000164205" "00163340" "1" "02416" "00110" "2010-10-25 15:22:47" "" "" "SEQ" "DNA" "" "" "0000164206" "00163341" "1" "02416" "00110" "2010-10-27 10:44:42" "" "" "SEQ" "DNA" "" "" "0000164207" "00163342" "1" "02416" "00110" "2010-10-27 10:50:45" "" "" "SEQ" "DNA" "" "" "0000164208" "00163343" "1" "02416" "00110" "2013-06-05 16:38:06" "00110" "2016-06-06 09:35:26" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164209" "00163344" "1" "02416" "00110" "2010-10-25 16:28:47" "" "" "SEQ" "DNA" "" "" "0000164210" "00163345" "1" "02416" "00110" "2010-10-25 16:29:52" "" "" "SEQ" "DNA" "" "" "0000164211" "00163346" "1" "02416" "00110" "2010-10-25 16:32:20" "" "" "SEQ" "DNA" "" "" "0000164212" "00163347" "1" "02416" "00110" "2010-10-25 16:33:38" "" "" "SEQ" "DNA" "" "" "0000164213" "00163348" "1" "02416" "00110" "2010-10-25 16:36:10" "" "" "SEQ" "DNA" "" "" "0000164214" "00163349" "1" "02416" "00110" "2010-10-25 15:38:44" "" "" "SEQ" "DNA" "" "" "0000164215" "00163350" "1" "02416" "00110" "2010-10-25 15:39:55" "" "" "SEQ" "DNA" "" "" "0000164216" "00163351" "1" "02416" "00110" "2010-10-25 16:38:16" "" "" "SEQ" "DNA" "" "" "0000164217" "00163352" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164218" "00163353" "1" "02416" "00110" "2010-10-25 16:40:44" "" "" "SEQ" "DNA" "" "" "0000164219" "00163354" "1" "02416" "00110" "2014-12-11 14:16:31" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164220" "00163355" "1" "02416" "00110" "2010-10-27 10:48:58" "00110" "2010-10-27 10:49:12" "SEQ" "DNA" "" "" "0000164221" "00163356" "1" "02416" "00110" "2010-10-27 10:53:36" "" "" "SEQ" "DNA" "" "" "0000164222" "00163357" "1" "02416" "00110" "2010-10-25 15:44:14" "" "" "SEQ" "DNA" "" "" "0000164223" "00163358" "1" "02416" "00110" "2010-10-25 15:45:33" "" "" "SEQ" "DNA" "" "" "0000164224" "00163359" "1" "02416" "00110" "2010-10-25 15:48:01" "" "" "SEQ" "DNA" "" "" "0000164225" "00163360" "1" "00110" "00110" "2010-03-09 17:29:39" "00110" "2010-05-31 17:59:26" "SEQ" "DNA" "" "" "0000164226" "00163361" "1" "00110" "00110" "2010-03-09 17:31:25" "00110" "2010-05-31 17:59:26" "SSCA" "DNA" "" "" "0000164227" "00163362" "1" "00110" "00110" "2010-03-09 17:33:03" "00110" "2010-05-31 17:59:26" "SSCA" "DNA" "" "" "0000164228" "00163363" "1" "00110" "00110" "2010-03-09 17:34:12" "00110" "2010-05-31 17:59:26" "SSCA" "DNA" "" "" "0000164229" "00163364" "1" "00110" "00110" "2010-03-09 17:35:12" "00110" "2010-05-31 17:59:26" "SSCA" "DNA" "" "" "0000164230" "00163365" "1" "00110" "00110" "2010-03-09 17:36:29" "00110" "2010-05-31 17:59:26" "SSCA" "DNA" "" "" "0000164231" "00163366" "1" "02416" "00110" "2010-10-25 16:42:52" "" "" "SEQ" "DNA" "" "" "0000164232" "00163367" "1" "02416" "00110" "2010-10-25 16:45:05" "" "" "SEQ" "DNA" "" "" "0000164233" "00163368" "1" "02416" "00110" "2010-10-25 16:48:30" "" "" "SEQ" "DNA" "" "" "0000164234" "00163369" "1" "02416" "00110" "2010-10-25 16:49:47" "" "" "SEQ" "DNA" "" "" "0000164235" "00163370" "1" "02416" "00110" "2010-10-27 10:56:35" "" "" "SEQ" "DNA" "" "" "0000164236" "00163371" "1" "02416" "00110" "2010-10-27 10:57:45" "" "" "SEQ" "DNA" "" "" "0000164237" "00163372" "1" "02416" "00110" "2010-10-27 11:24:59" "" "" "SEQ" "DNA" "" "" "0000164238" "00163373" "1" "02416" "00110" "2010-10-27 11:50:13" "" "" "SEQ" "DNA" "" "" "0000164239" "00163374" "1" "02419" "02419" "2011-09-12 16:33:57" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164240" "00163375" "1" "02419" "02419" "2011-09-12 16:32:40" "00110" "2012-07-11 09:30:20" "SEQ" "DNA" "" "" "0000164241" "00163376" "1" "02416" "00110" "2010-10-25 16:52:08" "" "" "SEQ" "DNA" "" "" "0000184220" "00183263" "1" "00006" "00006" "2018-10-21 21:02:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000295889" "00294721" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295890" "00294722" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295891" "00294723" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295892" "00294724" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295893" "00294725" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295894" "00294726" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295895" "00294727" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306346" "00305217" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000337202" "00335972" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360498" "00359260" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000373866" "00372634" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374742" "00373507" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000379161" "00377957" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" "" "0000382377" "00381162" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000383839" "00382625" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000387807" "00386579" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388428" "00387202" "1" "02416" "02416" "2021-10-28 14:04:23" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000389270" "00388031" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG;arrayCGH;SEQ" "DNA" "blood" "" "0000396008" "00394761" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396009" "00394762" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000412931" "00411659" "1" "00000" "00008" "2022-06-18 03:05:08" "" "" "arraySNP;SEQ" "DNA" "peripheral blood leucocytes" "" "0000429737" "00428324" "1" "04147" "04147" "2022-12-31 20:36:03" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "Otogenetics Deafness Panel" "0000442944" "00441458" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449220" "00447643" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 115 "{{screeningid}}" "{{geneid}}" "0000059110" "DFNB31" "0000164139" "DFNB31" "0000164140" "DFNB31" "0000164141" "DFNB31" "0000164142" "DFNB31" "0000164143" "DFNB31" "0000164144" "DFNB31" "0000164145" "DFNB31" "0000164146" "DFNB31" "0000164147" "DFNB31" "0000164148" "DFNB31" "0000164149" "DFNB31" "0000164150" "DFNB31" "0000164151" "DFNB31" "0000164152" "DFNB31" "0000164153" "DFNB31" "0000164154" "DFNB31" "0000164155" "DFNB31" "0000164156" "DFNB31" "0000164157" "DFNB31" "0000164158" "DFNB31" "0000164159" "DFNB31" "0000164160" "DFNB31" "0000164161" "DFNB31" "0000164162" "DFNB31" "0000164163" "DFNB31" "0000164164" "DFNB31" "0000164165" "DFNB31" "0000164166" "DFNB31" "0000164167" "DFNB31" "0000164168" "DFNB31" "0000164169" "DFNB31" "0000164170" "DFNB31" "0000164171" "DFNB31" "0000164172" "DFNB31" "0000164173" "DFNB31" "0000164174" "DFNB31" "0000164175" "DFNB31" "0000164176" "DFNB31" "0000164177" "DFNB31" "0000164178" "DFNB31" "0000164179" "DFNB31" "0000164180" "DFNB31" "0000164181" "DFNB31" "0000164182" "DFNB31" "0000164183" "DFNB31" "0000164184" "DFNB31" "0000164185" "DFNB31" "0000164186" "DFNB31" "0000164187" "DFNB31" "0000164188" "DFNB31" "0000164189" "DFNB31" "0000164190" "DFNB31" "0000164191" "DFNB31" "0000164192" "DFNB31" "0000164193" "DFNB31" "0000164194" "DFNB31" "0000164195" "DFNB31" "0000164196" "DFNB31" "0000164197" "DFNB31" "0000164198" "DFNB31" "0000164199" "DFNB31" "0000164200" "DFNB31" "0000164201" "DFNB31" "0000164202" "DFNB31" "0000164203" "DFNB31" "0000164204" "DFNB31" "0000164205" "DFNB31" "0000164206" "DFNB31" "0000164207" "DFNB31" "0000164208" "DFNB31" "0000164209" "DFNB31" "0000164210" "DFNB31" "0000164211" "DFNB31" "0000164212" "DFNB31" "0000164213" "DFNB31" "0000164214" "DFNB31" "0000164215" "DFNB31" "0000164216" "DFNB31" "0000164217" "DFNB31" "0000164218" "DFNB31" "0000164219" "DFNB31" "0000164220" "DFNB31" "0000164221" "DFNB31" "0000164222" "DFNB31" "0000164223" "DFNB31" "0000164224" "DFNB31" "0000164225" "DFNB31" "0000164226" "DFNB31" "0000164227" "DFNB31" "0000164228" "DFNB31" "0000164229" "DFNB31" "0000164230" "DFNB31" "0000164231" "DFNB31" "0000164232" "DFNB31" "0000164233" "DFNB31" "0000164234" "DFNB31" "0000164235" "DFNB31" "0000164236" "DFNB31" "0000164237" "DFNB31" "0000164238" "DFNB31" "0000164239" "DFNB31" "0000164240" "DFNB31" "0000164241" "DFNB31" "0000184220" "DFNB31" "0000337202" "DFNB31" "0000374742" "CNNM4" "0000379161" "DFNB31" "0000382377" "DFNB31" "0000383839" "DFNB31" "0000387807" "DFNB31" "0000389270" "DFNB31" "0000396008" "DFNB31" "0000396009" "OFD1" "0000412931" "DFNB31" ## 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 = 277 "{{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}}" "0000089907" "0" "50" "9" "117267081" "117267081" "subst" "0" "01551" "DFNB31_000101" "g.117267081T>C" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.114504801T>C" "" "VUS" "" "0000246808" "0" "10" "9" "117186665" "117186665" "subst" "0.00249813" "02330" "DFNB31_000069" "g.117186665A>G" "" "" "" "WHRN(NM_015404.3):c.1365T>C (p.S455=), WHRN(NM_015404.4):c.1365T>C (p.S455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114424385A>G" "" "benign" "" "0000248608" "0" "10" "9" "117186677" "117186677" "subst" "0.794266" "02325" "DFNB31_000002" "g.117186677A>G" "" "" "" "WHRN(NM_015404.4):c.1353T>C (p.G451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114424397A>G" "" "benign" "" "0000248852" "0" "10" "9" "117169033" "117169033" "subst" "0.529199" "02325" "DFNB31_000113" "g.117169033A>G" "" "" "" "WHRN(NM_015404.4):c.1838T>C (p.M613T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114406753A>G" "" "benign" "" "0000248945" "0" "10" "9" "117166246" "117166246" "subst" "0.481232" "02325" "DFNB31_000106" "g.117166246A>G" "" "" "" "WHRN(NM_015404.4):c.2348T>C (p.V783A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114403966A>G" "" "benign" "" "0000255009" "0" "30" "9" "117186665" "117186665" "subst" "0.00249813" "01943" "DFNB31_000069" "g.117186665A>G" "" "" "" "WHRN(NM_015404.3):c.1365T>C (p.S455=), WHRN(NM_015404.4):c.1365T>C (p.S455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114424385A>G" "" "likely benign" "" "0000255255" "0" "30" "9" "117170303" "117170303" "subst" "0.00155485" "01943" "DFNB31_000075" "g.117170303A>T" "" "" "" "DFNB31(NM_015404.3):c.1627-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114408023A>T" "" "likely benign" "" "0000265310" "0" "50" "9" "117185728" "117185728" "subst" "2.0307E-5" "02330" "DFNB31_000117" "g.117185728G>A" "" "" "" "WHRN(NM_015404.4):c.1492C>T (p.R498C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114423448G>A" "" "VUS" "" "0000265311" "0" "50" "9" "117169021" "117169021" "subst" "0.000236072" "02330" "DFNB31_000112" "g.117169021G>A" "" "" "" "DFNB31(NM_015404.3):c.1850C>T (p.S617L), WHRN(NM_015404.4):c.1850C>T (p.S617L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114406741G>A" "" "VUS" "" "0000265312" "0" "30" "9" "117168928" "117168928" "subst" "0.000330445" "02330" "DFNB31_000032" "g.117168928G>T" "" "" "" "WHRN(NM_015404.3):c.1943C>A (p.S648Y), WHRN(NM_015404.4):c.1943C>A (p.S648Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114406648G>T" "" "likely benign" "" "0000265313" "0" "30" "9" "117267063" "117267063" "subst" "0.000551857" "02330" "DFNB31_000130" "g.117267063C>G" "" "" "" "WHRN(NM_015404.4):c.19G>C (p.G7R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114504783C>G" "" "likely benign" "" "0000265314" "0" "30" "9" "117168689" "117168689" "subst" "6.09935E-5" "02330" "DFNB31_000109" "g.117168689G>A" "" "" "" "WHRN(NM_015404.4):c.2182C>T (p.R728C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114406409G>A" "" "likely benign" "" "0000265315" "0" "50" "9" "117165114" "117165114" "subst" "0.000335011" "02330" "DFNB31_000034" "g.117165114G>T" "" "" "" "WHRN(NM_015404.3):c.2644C>A (p.R882S), WHRN(NM_015404.4):c.2644C>A (p.R882S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114402834G>T" "" "VUS" "" "0000265316" "0" "50" "9" "117266754" "117266754" "subst" "0.000202494" "02330" "DFNB31_000127" "g.117266754T>C" "" "" "" "WHRN(NM_015404.3):c.328A>G (p.T110A), WHRN(NM_015404.4):c.328A>G (p.T110A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114504474T>C" "" "VUS" "" "0000265317" "0" "10" "9" "117241002" "117241002" "subst" "0.00629489" "02330" "DFNB31_000126" "g.117241002C>T" "" "" "" "DFNB31(NM_001083885.2):c.-482G>A (p.(=)), WHRN(NM_015404.3):c.668G>A (p.R223H), WHRN(NM_015404.4):c.668G>A (p.R223H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114478722C>T" "" "benign" "" "0000265318" "0" "50" "9" "117240954" "117240954" "subst" "4.91848E-5" "02330" "DFNB31_000125" "g.117240954G>A" "" "" "" "WHRN(NM_015404.4):c.716C>T (p.P239L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114478674G>A" "" "VUS" "" "0000265319" "0" "10" "9" "117240906" "117240906" "subst" "0.000933003" "02330" "DFNB31_000124" "g.117240906C>T" "" "" "" "WHRN(NM_015404.3):c.764G>A (p.G255D), WHRN(NM_015404.4):c.764G>A (p.G255D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114478626C>T" "" "benign" "" "0000267351" "0" "10" "9" "117188566" "117188566" "subst" "0.995597" "02325" "DFNB31_000121" "g.117188566C>T" "" "" "" "WHRN(NM_015404.4):c.1091G>A (p.R364H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114426286=" "" "benign" "" "0000267352" "0" "10" "9" "117166338" "117166338" "subst" "0.998568" "02325" "DFNB31_000107" "g.117166338G>C" "" "" "" "WHRN(NM_015404.4):c.2256C>G (p.H752Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114404058=" "" "benign" "" "0000274969" "0" "30" "9" "117170247" "117170247" "subst" "0.000382276" "01943" "DFNB31_000114" "g.117170247C>T" "" "" "" "DFNB31(NM_015404.3):c.1678G>A (p.A560T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114407967C>T" "" "likely benign" "" "0000274970" "0" "50" "9" "117169021" "117169021" "subst" "0.000236072" "01943" "DFNB31_000112" "g.117169021G>A" "" "" "" "DFNB31(NM_015404.3):c.1850C>T (p.S617L), WHRN(NM_015404.4):c.1850C>T (p.S617L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114406741G>A" "" "VUS" "" "0000274971" "0" "50" "9" "117168844" "117168844" "subst" "0.000988175" "01943" "DFNB31_000110" "g.117168844G>C" "" "" "" "DFNB31(NM_015404.3):c.2027C>G (p.P676R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114406564G>C" "" "VUS" "" "0000274972" "0" "30" "9" "117266853" "117266853" "subst" "0.00733014" "01943" "DFNB31_000025" "g.117266853T>A" "" "" "" "DFNB31(NM_015404.3):c.229A>T (p.T77S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114504573T>A" "" "likely benign" "" "0000274973" "0" "50" "9" "117166243" "117166243" "subst" "0" "01943" "DFNB31_000105" "g.117166243G>C" "" "" "" "DFNB31(NM_015404.3):c.2351C>G (p.S784C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114403963G>C" "" "VUS" "" "0000274974" "0" "30" "9" "117166210" "117166210" "subst" "0.000474608" "01943" "DFNB31_000104" "g.117166210C>T" "" "" "" "DFNB31(NM_015404.3):c.2384G>A (p.R795Q), WHRN(NM_015404.4):c.2384G>A (p.R795Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114403930C>T" "" "likely benign" "" "0000274975" "0" "30" "9" "117267049" "117267049" "subst" "0.00114901" "01943" "DFNB31_000045" "g.117267049G>C" "" "" "" "DFNB31(NM_015404.3):c.33C>G (p.S11R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114504769G>C" "" "likely benign" "" "0000319973" "0" "30" "9" "117188508" "117188508" "subst" "0.000886251" "01943" "DFNB31_000120" "g.117188508G>A" "" "" "" "WHRN(NM_015404.3):c.1149C>T (p.T383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114426228G>A" "" "likely benign" "" "0000319974" "0" "30" "9" "117185612" "117185612" "subst" "0.0006579" "01943" "DFNB31_000116" "g.117185612G>C" "" "" "" "WHRN(NM_015404.3):c.1608C>G (p.T536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114423332G>C" "" "likely benign" "" "0000319975" "0" "30" "9" "117185609" "117185609" "subst" "2.03077E-5" "01943" "DFNB31_000115" "g.117185609G>A" "" "" "" "WHRN(NM_015404.3):c.1611C>T (p.T537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114423329G>A" "" "likely benign" "" "0000319976" "0" "30" "9" "117166344" "117166344" "subst" "6.54028E-5" "01943" "DFNB31_000108" "g.117166344G>A" "" "" "" "WHRN(NM_001173425.2):c.2247C>T (p.L749=), WHRN(NM_015404.3):c.2250C>T (p.L750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114404064G>A" "" "likely benign" "" "0000319977" "0" "30" "9" "117166182" "117166182" "subst" "2.87041E-5" "01943" "DFNB31_000103" "g.117166182G>A" "" "" "" "WHRN(NM_015404.3):c.2412C>T (p.N804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114403902G>A" "" "likely benign" "" "0000319978" "0" "50" "9" "117228647" "117228647" "subst" "4.06418E-5" "01943" "DFNB31_000123" "g.117228647C>T" "" "" "" "WHRN(NM_015404.3):c.863G>A (p.R288Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114466367C>T" "" "VUS" "" "0000319979" "0" "50" "9" "117188659" "117188659" "subst" "0.00012315" "01943" "DFNB31_000122" "g.117188659C>T" "" "" "" "WHRN(NM_015404.3):c.998G>A (p.S333N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114426379C>T" "" "VUS" "" "0000332753" "0" "50" "9" "117241002" "117241002" "subst" "0.00629489" "01804" "DFNB31_000126" "g.117241002C>T" "" "" "" "DFNB31(NM_001083885.2):c.-482G>A (p.(=)), WHRN(NM_015404.3):c.668G>A (p.R223H), WHRN(NM_015404.4):c.668G>A (p.R223H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114478722C>T" "" "VUS" "" "0000367211" "0" "11" "9" "117267172" "117267172" "subst" "0" "02416" "DFNB31_000071" "g.117267172G>A" "" "" "" "" "Heterozygous" "Germline" "" "rs2297814" "0" "" "" "g.114504892G>A" "" "benign" "" "0000367212" "3" "11" "9" "117267172" "117267172" "subst" "0" "02416" "DFNB31_000071" "g.117267172G>A" "" "{PMID:Besnard et al., 2011:22147658}" "" "" "homozygous" "Germline" "" "rs2297814" "0" "" "" "g.114504892G>A" "" "benign" "" "0000367213" "11" "73" "9" "117267049" "117267049" "subst" "0.00114901" "02416" "DFNB31_000045" "g.117267049G>C" "0/494 controls" "{PMID:Bonnet et al., 2011:21569298}" "+MnlI;-BanII;-AluI;-CviKI_1;-SacI;-BsiHKAI;" "" "heterozygous, {USMAWHRN:S11R} {MSV3dQ9P202:p.Ser11Arg}" "Germline" "" "rs45527543" "0" "" "" "g.114504769G>C" "" "likely benign" "ACMG" "0000367214" "0" "11" "9" "117266965" "117266965" "subst" "0.326902" "02417" "DFNB31_000009" "g.117266965C>T" "" "{PMID:Jaijo et al., 2010:19683999}" "+CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI;" "" "Heterozygous" "Germline" "" "rs2297815" "0" "" "" "g.114504685C>T" "" "likely benign" "ACMG" "0000367215" "0" "11" "9" "117266965" "117266965" "subst" "0.326902" "02416" "DFNB31_000009" "g.117266965C>T" "" "" "+CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI;" "" "Heterozygous" "Germline" "" "rs2297815" "0" "" "" "g.114504685C>T" "" "benign" "" "0000367216" "3" "11" "9" "117266965" "117266965" "subst" "0.326902" "02416" "DFNB31_000009" "g.117266965C>T" "0.383 (patients)" "{PMID:Aller et al., 2010:20352026}" "+CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI;" "" "homozygous" "Germline" "" "rs2297815" "0" "" "" "g.114504685C>T" "" "benign" "" "0000367217" "0" "11" "9" "117266965" "117266965" "subst" "0.326902" "02416" "DFNB31_000009" "g.117266965C>T" "0.383 (patients)" "{PMID:Aller et al., 2010:20352026}" "+CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI;" "" "Heterozygous" "Germline" "" "rs2297815" "0" "" "" "g.114504685C>T" "" "benign" "" "0000367218" "3" "11" "9" "117266965" "117266965" "subst" "0.326902" "02416" "DFNB31_000009" "g.117266965C>T" "" "{PMID:Besnard et al., 2011:22147658}" "+CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI;" "" "homozygous" "Germline" "" "rs2297815" "0" "" "" "g.114504685C>T" "" "benign" "" "0000367219" "0" "11" "9" "117266965" "117266965" "subst" "0.326902" "02416" "DFNB31_000009" "g.117266965C>T" "" "{PMID:Rong et al., 2014:24831256}" "+CviQI;+RsaI;+BsiWI;-HinP1I;-HhaI;" "" "Heterozygous" "Germline" "" "rs2297815" "0" "" "" "g.114504685C>T" "" "benign" "" "0000367220" "0" "33" "9" "117266853" "117266853" "subst" "0.00733014" "02416" "DFNB31_000025" "g.117266853T>A" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "-FspI" "" "heterozygous, {USMAWHRN:T77S} {MSV3dQ9P202:p.Thr77Ser}" "Germline" "" "rs56204273" "0" "" "" "g.114504573T>A" "" "likely benign" "ACMG" "0000367221" "1" "99" "9" "117266775" "117266775" "subst" "4.20617E-6" "00110" "DFNB31_000007" "g.117266775G>A" "0/100 controls" "{PMID:Ebermann et al., 2007:17171570}" "+BfaI;-PvuII;-MspA1I;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114504495G>A" "" "pathogenic" "" "0000367222" "1" "99" "9" "117266775" "117266775" "subst" "4.20617E-6" "00110" "DFNB31_000007" "g.117266775G>A" "0/100 controls" "{PMID:Ebermann et al., 2007:17171570}" "+BfaI;-PvuII;-MspA1I;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114504495G>A" "" "pathogenic" "" "0000367223" "0" "13" "9" "117266673" "117266673" "subst" "0.000708311" "02419" "DFNB31_000064" "g.117266673C>G" "0/134 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+BspMI;+BfuAI;-" "" "heterozygous, {USMAWHRN:E137Q} {MSV3dQ9P202:p.Glu137Gln}" "Germline" "" "rs41297175" "0" "" "" "g.114504393C>G" "" "likely benign" "ACMG" "0000367224" "0" "13" "9" "117266123" "117266123" "subst" "0" "02419" "DFNB31_000060" "g.117266123T>C" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "-Tsp509I" "" "Heterozygous" "Germline" "" "rs150845016" "0" "" "" "g.114503843T>C" "" "likely benign" "ACMG" "0000367225" "0" "13" "9" "117265969" "117265969" "subst" "0" "02419" "DFNB31_000057" "g.117265969G>A" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "-BciVI;-AcuI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114503689G>A" "" "likely benign" "ACMG" "0000367226" "0" "11" "9" "117265838" "117265838" "subst" "0" "02419" "DFNB31_000055" "g.117265838T>C" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+BssKI;+NlaIV;+StyD4I;+BstNI;+PspGI;-BfaI;" "" "Heterozygous" "Germline" "" "rs79604999" "0" "" "" "g.114503558T>C" "" "benign" "" "0000367227" "0" "11" "9" "117265838" "117265838" "subst" "0" "02419" "DFNB31_000055" "g.117265838T>C" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+BssKI;+NlaIV;+StyD4I;+BstNI;+PspGI;-BfaI;" "" "Heterozygous" "Germline" "" "rs79604999" "0" "" "" "g.114503558T>C" "" "benign" "" "0000367228" "0" "13" "9" "117265533" "117265533" "subst" "0" "02419" "DFNB31_000050" "g.117265533C>A" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114503253C>A" "" "likely benign" "ACMG" "0000367229" "0" "13" "9" "117265442" "117265442" "subst" "0" "02419" "DFNB31_000061" "g.117265442C>T" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "-BbvI;-AvrII;-Fnu4HI;-MwoI;-ApeKI;-TseI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114503162C>T" "" "likely benign" "ACMG" "0000367230" "0" "33" "9" "117241092" "117241092" "subst" "0.000776695" "02416" "DFNB31_000035" "g.117241092C>T" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "-BssKI;-NlaIV;-StyD4I;-MspI;-HpaII;-BanI;" "619-41A>G" "Heterozygous" "Germline" "" "" "0" "" "" "g.114478812C>T" "" "likely benign" "ACMG" "0000367231" "0" "99" "9" "117240994" "117240994" "dup" "0" "02416" "DFNB31_000011" "g.117240994dup" "" "{PMID:Besnard et al., 2011:22147658}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114478714dup" "" "pathogenic" "" "0000367232" "0" "99" "9" "117240936" "117240936" "del" "0" "02416" "DFNB31_000012" "g.117240936del" "" "{PMID:Besnard et al., 2011:22147658}" "none" "737delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.114478656del" "" "pathogenic" "" "0000367233" "3" "99" "9" "117240936" "117240936" "del" "0" "02416" "DFNB31_000012" "g.117240936del" "" "{PMID:Bonnet et al., 2011:21569298}" "none" "737delC" "homozygous" "Germline" "" "" "0" "" "" "g.114478656del" "" "pathogenic" "" "0000367234" "3" "99" "9" "117240936" "117240936" "del" "0" "02416" "DFNB31_000012" "g.117240936del" "" "{PMID:Audo et al., 2011:21738389}" "none" "737delC" "homozygous" "Germline" "" "" "0" "" "" "g.114478656del" "" "pathogenic" "" "0000367235" "3" "99" "9" "117240936" "117240936" "del" "0" "02416" "DFNB31_000012" "g.117240936del" "" "{PMID:Audo et al., 2011:21738389}" "none" "737delC" "homozygous" "Germline" "" "" "0" "" "" "g.114478656del" "" "pathogenic" "" "0000367236" "3" "99" "9" "117240936" "117240936" "del" "0" "02416" "DFNB31_000012" "g.117240936del" "" "{PMID:Audo et al., 2011:21738389}" "none" "737delC" "homozygous" "Germline" "" "" "0" "" "" "g.114478656del" "" "pathogenic" "" "0000367237" "3" "99" "9" "117240936" "117240936" "del" "0" "02416" "DFNB31_000012" "g.117240936del" "" "{PMID:Besnard et al., 2011:22147658}" "none" "737delC" "homozygous" "Germline" "" "" "0" "" "" "g.114478656del" "" "pathogenic" "" "0000367238" "0" "13" "9" "117240915" "117240915" "subst" "8.16233E-6" "02419" "DFNB31_000059" "g.117240915T>C" "0/182 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+Sau96I;+BssKI;+NlaIV;+StyD4I;-BseYI;-XcmI;" "" "heterozygous, {USMAWHRN:Q252R} {MSV3dQ9P202:p.Gln252Arg}" "Germline" "" "" "0" "" "" "g.114478635T>C" "" "likely benign" "ACMG" "0000367239" "0" "13" "9" "117240915" "117240915" "subst" "8.16233E-6" "02419" "DFNB31_000059" "g.117240915T>C" "0/182 controls" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+Sau96I;+BssKI;+NlaIV;+StyD4I;-BseYI;-XcmI;" "" "heterozygous, {USMAWHRN:Q252R} {MSV3dQ9P202:p.Gln252Arg}" "Germline" "" "" "0" "" "" "g.114478635T>C" "" "likely benign" "ACMG" "0000367240" "2" "99" "9" "117240832" "117240832" "subst" "0" "00110" "DFNB31_000008" "g.117240832C>T" "0/100 controls" "{PMID:Ebermann et al., 2007:17171570}" "-HphI" "" "Heterozygous, RT-PCR revealed an in-frame skipping of exon 2" "Germline" "" "" "0" "" "" "g.114478552C>T" "" "pathogenic" "" "0000367241" "2" "99" "9" "117240832" "117240832" "subst" "0" "00110" "DFNB31_000008" "g.117240832C>T" "0/100 controls" "{PMID:Ebermann et al., 2007:17171570}" "-HphI" "" "Heterozygous, RT-PCR revealed an in-frame skipping of exon" "Germline" "" "" "0" "" "" "g.114478552C>T" "" "pathogenic" "" "0000367242" "0" "33" "9" "117240792" "117240792" "subst" "3.68946E-5" "02416" "DFNB31_000036" "g.117240792C>T" "0.005 (patients)" "{PMID:Aller et al., 2010:20352026}" "-HpyCH4III" "837+41A>G" "Heterozygous" "Germline" "" "" "0" "" "" "g.114478512C>T" "" "likely benign" "ACMG" "0000367243" "0" "75" "9" "117228555" "117228555" "subst" "0.000158471" "02416" "DFNB31_000080" "g.117228555C>A" "" "{PMID:Bujakowska et al., 2014:25468891}" "" "" "heterozygous, {USMAWHRN:G319W} {MSV3dQ9P202:p.Gly319Trp}" "Germline" "" "rs143165834" "0" "" "" "g.114466275C>A" "" "VUS" "ACMG" "0000367244" "3" "99" "9" "117228546" "117228546" "subst" "0" "02416" "DFNB31_000081" "g.117228546C>T" "" "{PMID:Jiang et al., 2015:26338283}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.114466266C>T" "" "pathogenic" "" "0000367245" "0" "11" "9" "117188714" "117188714" "subst" "0.32991" "02416" "DFNB31_000013" "g.117188714T>C" "" "" "none" "" "Heterozygous" "Germline" "" "rs2274163" "0" "" "" "g.114426434T>C" "" "benign" "" "0000367246" "3" "11" "9" "117188714" "117188714" "subst" "0.32991" "02416" "DFNB31_000013" "g.117188714T>C" "0.292 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "" "homozygous" "Germline" "" "rs2274163" "0" "" "" "g.114426434T>C" "" "benign" "" "0000367247" "0" "11" "9" "117188714" "117188714" "subst" "0.32991" "02416" "DFNB31_000013" "g.117188714T>C" "0.292 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "" "Heterozygous" "Germline" "" "rs2274163" "0" "" "" "g.114426434T>C" "" "benign" "" "0000367248" "0" "33" "9" "117188609" "117188609" "subst" "0.000374514" "02416" "DFNB31_000026" "g.117188609G>A" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "-NmeAIII" "" "heterozygous, {USMAWHRN:R350W} {MSV3dQ9P202:p.Arg350Trp}" "Germline" "" "" "0" "" "" "g.114426329G>A" "" "likely benign" "ACMG" "0000367249" "3" "11" "9" "117188566" "117188566" "subst" "0" "02416" "DFNB31_000072" "g.117188566T>C" "" "{PMID:Besnard et al., 2011:22147658}" "+BaeGI;+Bsp1286I;-FatI;-NlaIII;-CviAII;" "" "homozygous, {USMAWHRN:H364R} {MSV3dQ9P202:p.His364Arg}\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs10817610" "0" "" "" "" "" "benign" "" "0000367250" "0" "73" "9" "117188522" "117188522" "subst" "0.000630153" "02416" "DFNB31_000046" "g.117188522G>A" "0/306 controls" "{PMID:Bonnet et al., 2011:21569298}" "+PspGI;+BstNI;+PflMI;-MspI;-HpaII;-NciI;" "" "heterozygous, {USMAWHRN:R379W} {MSV3dQ9P202:p.Arg379Trp}" "Germline" "" "rs56059137" "0" "" "" "g.114426242G>A" "" "likely benign" "ACMG" "0000367251" "0" "73" "9" "117188522" "117188522" "subst" "0.000630153" "02416" "DFNB31_000046" "g.117188522G>A" "" "{PMID:Bujakowska et al., 2014:25468891}" "+PspGI;+BstNI;+PflMI;-MspI;-HpaII;-NciI;" "" "heterozygous, {USMAWHRN:R379W} {MSV3dQ9P202:p.Arg379Trp}" "Germline" "" "rs56059137" "0" "" "" "g.114426242G>A" "" "likely benign" "ACMG" "0000367252" "0" "33" "9" "117188509" "117188509" "subst" "0.000292704" "02416" "DFNB31_000027" "g.117188509G>T" "0.005 (patients)" "{PMID:Aller et al., 2010:20352026}" "-BsmAI;-BsaI;-NcoI;-StyI;-BsaJI;-BtgI;" "" "heterozygous, {USMAWHRN:T383N} {MSV3dQ9P202:p.Thr383Asn}" "Germline" "" "" "0" "" "" "g.114426229G>T" "" "likely benign" "ACMG" "0000367253" "0" "33" "9" "117188509" "117188509" "subst" "0.000292704" "02419" "DFNB31_000027" "g.117188509G>T" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "-BsmAI;-BsaI;-NcoI;-StyI;-BsaJI;-BtgI;" "" "heterozygous, {USMAWHRN:T383N} {MSV3dQ9P202:p.Thr383Asn}" "Germline" "" "" "0" "" "" "g.114426229G>T" "" "likely benign" "ACMG" "0000367254" "0" "33" "9" "117188509" "117188509" "subst" "0" "02416" "DFNB31_000028" "g.117188509G>C" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "-BsmAI;-BsaI;-NcoI;-StyI;-BsaJI;-BtgI;" "" "{USMAWHRN:T383S} {MSV3dQ9P202:p.Thr383Ser}" "Germline" "" "" "0" "" "" "g.114426229G>C" "" "likely benign" "ACMG" "0000367255" "0" "73" "9" "117188497" "117188497" "subst" "0" "02416" "DFNB31_000074" "g.117188497G>C" "" "{PMID:Glöcke et al., 2013:23591405}" "+BmrI;+BsrI;-NmeAIII;" "" "heterozygous, {USMAWHRN:S387W} {MSV3dQ9P202:p.Ser387Trp}" "Germline" "" "" "0" "" "" "g.114426217G>C" "" "likely benign" "ACMG" "0000367256" "0" "13" "9" "117188473" "117188473" "subst" "0.00476575" "02419" "DFNB31_000054" "g.117188473C>T" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "-Cac8I" "" "Heterozygous" "Germline" "" "rs149202009" "0" "" "" "g.114426193C>T" "" "likely benign" "ACMG" "0000367257" "0" "13" "9" "117188473" "117188473" "subst" "0.00476575" "02419" "DFNB31_000054" "g.117188473C>T" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "-Cac8I" "" "Heterozygous" "Germline" "" "rs149202009" "0" "" "" "g.114426193C>T" "" "likely benign" "ACMG" "0000367258" "0" "33" "9" "117187154" "117187154" "subst" "0" "02416" "DFNB31_000037" "g.117187154G>A" "0.005 (patients)" "{PMID:Aller et al., 2010:20352026}" "+AluI" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114424874G>A" "" "likely benign" "ACMG" "0000367259" "0" "13" "9" "117186859" "117186859" "subst" "0.00263864" "02419" "DFNB31_000051" "g.117186859C>T" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "-DdeI;-EcoRI;" "" "Heterozygous" "Germline" "" "rs78371346" "0" "" "" "g.114424579C>T" "" "likely benign" "ACMG" "0000367260" "0" "33" "9" "117186843" "117186843" "subst" "0.000772297" "02416" "DFNB31_000073" "g.117186843T>C" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "" "" "Heterozygous" "Germline" "" "rs200002920" "0" "" "" "g.114424563T>C" "" "likely benign" "ACMG" "0000367261" "11" "99" "9" "117186763" "117186763" "subst" "0" "02416" "DFNB31_000078" "g.117186763G>A" "" "{PMID:Ben-Salem et al., 2014:24194196}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114424483G>A" "" "pathogenic" "" "0000367262" "0" "75" "9" "117186738" "117186738" "subst" "8.13882E-6" "02416" "DFNB31_000076" "g.117186738C>T" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "heterozygous, {USMAWHRN:R431Q} {MSV3dQ9P202:p.Arg431Gln}" "Germline" "" "" "0" "" "" "g.114424458C>T" "" "VUS" "ACMG" "0000367263" "0" "11" "9" "117186712" "117186712" "subst" "0.261836" "02416" "DFNB31_000014" "g.117186712C>T" "" "" "+MslI;+MwoI;+BglI;" "" "heterozygous, {USMAWHRN:A440T} {MSV3dQ9P202:p.Ala440Thr}" "Germline" "" "rs4978584" "0" "" "" "g.114424432C>T" "" "benign" "" "0000367264" "3" "11" "9" "117186712" "117186712" "subst" "0.261836" "02416" "DFNB31_000014" "g.117186712C>T" "0.226 (patients)" "{PMID:Aller et al., 2010:20352026}" "+MslI;+MwoI;+BglI;" "" "homozygous, {USMAWHRN:A440T} {MSV3dQ9P202:p.Ala440Thr}" "Germline" "" "rs4978584" "0" "" "" "g.114424432C>T" "" "benign" "" "0000367265" "0" "11" "9" "117186712" "117186712" "subst" "0.261836" "02416" "DFNB31_000014" "g.117186712C>T" "0.226 (patients)" "{PMID:Aller et al., 2010:20352026}" "+MslI;+MwoI;+BglI;" "" "heterozygous, {USMAWHRN:A440T} {MSV3dQ9P202:p.Ala440Thr}" "Germline" "" "rs4978584" "0" "" "" "g.114424432C>T" "" "benign" "" "0000367266" "3" "11" "9" "117186712" "117186712" "subst" "0.261836" "02416" "DFNB31_000014" "g.117186712C>T" "" "{PMID:Rong et al., 2014:24831256}" "+MslI;+MwoI;+BglI;" "" "homozygous, {USMAWHRN:A440T} {MSV3dQ9P202:p.Ala440Thr}" "Germline" "" "rs4978584" "0" "" "" "g.114424432C>T" "" "benign" "" "0000367267" "0" "11" "9" "117186712" "117186712" "subst" "0.261836" "02416" "DFNB31_000014" "g.117186712C>T" "" "{PMID:Rong et al., 2014:24831256}" "+MslI;+MwoI;+BglI;" "" "heterozygous, {USMAWHRN:A440T} {MSV3dQ9P202:p.Ala440Thr}" "Germline" "" "rs4978584" "0" "" "" "g.114424432C>T" "" "benign" "" "0000367268" "0" "33" "9" "117186691" "117186691" "subst" "0" "02416" "DFNB31_000029" "g.117186691C>T" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "-BssKI;-StyD4I;-BstNI;-BtsCI;-PspGI;-FokI;" "Asp447His" "heterozygous, {USMAWHRN:D447N} {MSV3dQ9P202:p.Asp447Asn}" "Germline" "" "" "0" "" "" "g.114424411C>T" "" "likely benign" "ACMG" "0000367269" "3" "11" "9" "117186677" "117186677" "subst" "0.794266" "00110" "DFNB31_000002" "g.117186677A>G" "" "{PMID:Tlili et al., 2005:15841483}" "+AciI" "" "homozygous" "Germline" "" "rs4979387" "0" "" "" "g.114424397A>G" "" "benign" "" "0000367270" "3" "11" "9" "117186677" "117186677" "subst" "0.794266" "00110" "DFNB31_000002" "g.117186677A>G" "" "{PMID:Tlili et al., 2005:15841483}" "+AciI" "" "homozygous" "Germline" "" "rs4979387" "0" "" "" "g.114424397A>G" "" "benign" "" "0000367271" "3" "11" "9" "117186677" "117186677" "subst" "0.794266" "00110" "DFNB31_000002" "g.117186677A>G" "" "{PMID:Tlili et al., 2005:15841483}" "+AciI" "" "homozygous" "Germline" "" "rs4979387" "0" "" "" "g.114424397A>G" "" "benign" "" "0000367272" "3" "11" "9" "117186677" "117186677" "subst" "0.794266" "00110" "DFNB31_000002" "g.117186677A>G" "" "{PMID:Tlili et al., 2005:15841483}" "+AciI" "" "homozygous" "Germline" "" "rs4979387" "0" "" "" "g.114424397A>G" "" "benign" "" "0000367273" "3" "11" "9" "117186677" "117186677" "subst" "0.794266" "02416" "DFNB31_000002" "g.117186677A>G" "" "" "+AciI" "" "homozygous" "Germline" "" "rs4979387" "0" "" "" "g.114424397A>G" "" "benign" "" "0000367274" "3" "11" "9" "117186677" "117186677" "subst" "0.794266" "02416" "DFNB31_000002" "g.117186677A>G" "0.674 (patients)" "{PMID:Aller et al., 2010:20352026}" "+AciI" "" "homozygous" "Germline" "" "rs4979387" "0" "" "" "g.114424397A>G" "" "benign" "" "0000367275" "0" "11" "9" "117186677" "117186677" "subst" "0.794266" "02416" "DFNB31_000002" "g.117186677A>G" "0.674 (patients)" "{PMID:Aller et al., 2010:20352026}" "+AciI" "" "Heterozygous" "Germline" "" "rs4979387" "0" "" "" "g.114424397A>G" "" "benign" "" "0000367276" "3" "11" "9" "117186677" "117186677" "subst" "0.794266" "02416" "DFNB31_000002" "g.117186677A>G" "" "{PMID:Besnard et al., 2011:22147658}" "+AciI" "" "homozygous" "Germline" "" "rs4979387" "0" "" "" "g.114424397A>G" "" "benign" "" "0000367277" "3" "11" "9" "117186677" "117186677" "subst" "0.794266" "02416" "DFNB31_000002" "g.117186677A>G" "" "{PMID:Rong et al., 2014:24831256}" "+AciI" "" "homozygous" "Germline" "" "rs4979387" "0" "" "" "g.114424397A>G" "" "benign" "" "0000367278" "3" "11" "9" "117186677" "117186677" "subst" "0.794266" "02416" "DFNB31_000002" "g.117186677A>G" "" "{PMID:Rong et al., 2014:24831256}" "+AciI" "" "homozygous" "Germline" "" "rs4979387" "0" "" "" "g.114424397A>G" "" "benign" "" "0000367279" "0" "13" "9" "117186665" "117186665" "subst" "0.00249813" "02419" "DFNB31_000069" "g.117186665A>G" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+BsaJI;+BtgI;" "" "Heterozygous" "Germline" "" "rs111033459" "0" "" "" "g.114424385A>G" "" "likely benign" "ACMG" "0000367280" "0" "11" "9" "117186592" "117186592" "subst" "0.264187" "02416" "DFNB31_000015" "g.117186592T>A" "" "" "none" "" "Heterozygous" "Germline" "" "rs4979386" "0" "" "" "g.114424312T>A" "" "benign" "" "0000367281" "3" "11" "9" "117186592" "117186592" "subst" "0.264187" "02416" "DFNB31_000015" "g.117186592T>A" "0.197 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "" "homozygous" "Germline" "" "rs4979386" "0" "" "" "g.114424312T>A" "" "benign" "" "0000367282" "0" "11" "9" "117186592" "117186592" "subst" "0.264187" "02416" "DFNB31_000015" "g.117186592T>A" "0.197 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "" "Heterozygous" "Germline" "" "rs4979386" "0" "" "" "g.114424312T>A" "" "benign" "" "0000367283" "10" "13" "9" "117186553" "117186553" "del" "0" "02419" "DFNB31_000066" "g.117186553del" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+MnlI" "1416+61delG" "homozygous" "Germline" "" "" "0" "" "" "g.114424273del" "" "likely benign" "ACMG" "0000367284" "20" "13" "9" "117186553" "117186553" "del" "0" "02419" "DFNB31_000066" "g.117186553del" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+MnlI" "1416+61delG" "homozygous" "Germline" "" "" "0" "" "" "g.114424273del" "" "likely benign" "ACMG" "0000367285" "0" "33" "9" "117186552" "117186552" "del" "0" "02416" "DFNB31_000039" "g.117186552del" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "1416+62delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.114424272del" "" "likely benign" "ACMG" "0000367286" "0" "13" "9" "117186547" "117186547" "dup" "0" "02419" "DFNB31_000056" "g.117186547dup" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+BssKI;+NlaIV;+StyD4I;-FauI;-BsrBI;-AciI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114424267dup" "" "likely benign" "ACMG" "0000367287" "3" "11" "9" "117186463" "117186463" "subst" "0" "02416" "DFNB31_000038" "g.117186463T>C" "0.049 (patients)" "{PMID:Aller et al., 2010:20352026}" "+TspMI;+XmaI;+MspI;+HpaII;-PspGI;-BstNI;" "" "homozygous" "Germline" "" "rs4979385" "0" "" "" "g.114424183T>C" "" "benign" "" "0000367288" "0" "11" "9" "117186463" "117186463" "subst" "0" "02416" "DFNB31_000038" "g.117186463T>C" "0.049 (patients)" "{PMID:Aller et al., 2010:20352026}" "+TspMI;+XmaI;+MspI;+HpaII;-PspGI;-BstNI;" "" "Heterozygous" "Germline" "" "rs4979385" "0" "" "" "g.114424183T>C" "" "benign" "" "0000367289" "0" "13" "9" "117185988" "117185988" "subst" "0" "02419" "DFNB31_000065" "g.117185988T>C" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+MnlI;+HphI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114423708T>C" "" "likely benign" "ACMG" "0000367290" "0" "13" "9" "117185875" "117185875" "subst" "0" "02419" "DFNB31_000058" "g.117185875C>T" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+MnlI;-BstXI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114423595C>T" "" "likely benign" "ACMG" "0000367291" "0" "11" "9" "117170272" "117170272" "subst" "0" "02419" "DFNB31_000070" "g.117170272G>A" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+HphI" "" "Heterozygous" "Germline" "" "rs4979387" "0" "" "" "g.114407992G>A" "" "likely benign" "ACMG" "0000367292" "0" "33" "9" "117185765" "117185765" "subst" "0.0005904" "02416" "DFNB31_000019" "g.117185765C>T" "0.01 (patients)" "{PMID:Aller et al., 2010:20352026}" "-FauI;-AciI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114423485C>T" "" "likely benign" "ACMG" "0000367293" "0" "33" "9" "117185734" "117185734" "subst" "0.000129981" "02416" "DFNB31_000020" "g.117185734G>A" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "-DdeI;-BbvCI;-Bpu10I;-BspCNI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114423454G>A" "" "likely benign" "ACMG" "0000367294" "0" "11" "9" "117185705" "117185705" "subst" "0.0306906" "02416" "DFNB31_000021" "g.117185705C>T" "0.026" "{PMID:Aller et al., 2010:20352026}" "+BceAI;-BstUI;-HinP1I;-HhaI;-AciI;" "" "Heterozygous" "Germline" "" "rs34252199" "0" "" "" "g.114423425C>T" "" "benign" "" "0000367295" "0" "11" "9" "117170310" "117170310" "subst" "0.199767" "02416" "DFNB31_000016" "g.117170310C>T" "" "" "+BtsCI;+FokI;" "" "Heterozygous" "Germline" "" "rs2274160" "0" "" "" "g.114408030C>T" "" "benign" "" "0000367296" "3" "11" "9" "117170310" "117170310" "subst" "0.199767" "02416" "DFNB31_000016" "g.117170310C>T" "0.174 (patients)" "{PMID:Aller et al., 2010:20352026}" "+BtsCI;+FokI;" "" "homozygous" "Germline" "" "rs2274160" "0" "" "" "g.114408030C>T" "" "benign" "" "0000367297" "0" "11" "9" "117170310" "117170310" "subst" "0.199767" "02416" "DFNB31_000016" "g.117170310C>T" "0.174 (patients)" "{PMID:Aller et al., 2010:20352026}" "+BtsCI;+FokI;" "" "Heterozygous" "Germline" "" "rs2274160" "0" "" "" "g.114408030C>T" "" "benign" "" "0000367298" "3" "11" "9" "117170310" "117170310" "subst" "0.199767" "02416" "DFNB31_000016" "g.117170310C>T" "" "{PMID:Besnard et al., 2011:22147658}" "+BtsCI;+FokI;" "" "homozygous" "Germline" "" "rs2274160" "0" "" "" "g.114408030C>T" "" "benign" "" "0000367299" "0" "73" "9" "117170303" "117170303" "subst" "0.00155485" "02416" "DFNB31_000075" "g.117170303A>T" "" "{PMID:Glöcke et al., 2013:23591405}" "-XbaI" "" "Heterozygous" "Germline" "" "rs187221008" "0" "" "" "g.114408023A>T" "" "likely benign" "ACMG" "0000367300" "3" "11" "9" "117170241" "117170241" "subst" "0.090799" "02416" "DFNB31_000030" "g.117170241G>C" "0.1 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "" "homozygous, {USMAWHRN:P562A} {MSV3dQ9P202:p.Pro562Ala}" "Germline" "" "rs12339210" "0" "" "" "g.114407961G>C" "" "benign" "" "0000367301" "0" "11" "9" "117170241" "117170241" "subst" "0.090799" "02416" "DFNB31_000030" "g.117170241G>C" "0.1 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "" "heterozygous, {USMAWHRN:P562A} {MSV3dQ9P202:p.Pro562Ala}" "Germline" "" "rs12339210" "0" "" "" "g.114407961G>C" "" "benign" "" "0000367302" "3" "11" "9" "117169033" "117169033" "subst" "0.529199" "00110" "DFNB31_000003" "g.117169033A>G" "" "{PMID:Tlili et al., 2005:15841483}" "-FatI;-NlaIII;-CviAII;" "" "homozygous, {USMAWHRN:M613T} {MSV3dQ9P202:p.Met613Thr}" "Germline" "" "rs942519" "0" "" "" "g.114406753A>G" "" "benign" "" "0000367303" "3" "11" "9" "117169033" "117169033" "subst" "0.529199" "00110" "DFNB31_000003" "g.117169033A>G" "" "{PMID:Tlili et al., 2005:15841483}" "-FatI;-NlaIII;-CviAII;" "" "homozygous, {USMAWHRN:M613T} {MSV3dQ9P202:p.Met613Thr}" "Germline" "" "rs942519" "0" "" "" "g.114406753A>G" "" "benign" "" "0000367304" "3" "11" "9" "117169033" "117169033" "subst" "0.529199" "00110" "DFNB31_000003" "g.117169033A>G" "" "{PMID:Tlili et al., 2005:15841483}" "-FatI;-NlaIII;-CviAII;" "" "homozygous, {USMAWHRN:M613T} {MSV3dQ9P202:p.Met613Thr}" "Germline" "" "rs942519" "0" "" "" "g.114406753A>G" "" "benign" "" "0000367305" "3" "11" "9" "117169033" "117169033" "subst" "0.529199" "00110" "DFNB31_000003" "g.117169033A>G" "" "{PMID:Tlili et al., 2005:15841483}" "-FatI;-NlaIII;-CviAII;" "" "homozygous, {USMAWHRN:M613T} {MSV3dQ9P202:p.Met613Thr}" "Germline" "" "rs942519" "0" "" "" "g.114406753A>G" "" "benign" "" "0000367306" "0" "11" "9" "117169033" "117169033" "subst" "0.529199" "02416" "DFNB31_000003" "g.117169033A>G" "" "" "-FatI;-NlaIII;-CviAII;" "" "heterozygous, {USMAWHRN:M613T} {MSV3dQ9P202:p.Met613Thr}" "Germline" "" "rs942519" "0" "" "" "g.114406753A>G" "" "benign" "" "0000367307" "3" "11" "9" "117169033" "117169033" "subst" "0.529199" "02416" "DFNB31_000003" "g.117169033A>G" "0.459 (patients)" "{PMID:Aller et al., 2010:20352026}" "-FatI;-NlaIII;-CviAII;" "" "homozygous, {USMAWHRN:M613T} {MSV3dQ9P202:p.Met613Thr}" "Germline" "" "rs942519" "0" "" "" "g.114406753A>G" "" "benign" "" "0000367308" "0" "11" "9" "117169033" "117169033" "subst" "0.529199" "02416" "DFNB31_000003" "g.117169033A>G" "0.459 (patients)" "{PMID:Aller et al., 2010:20352026}" "-FatI;-NlaIII;-CviAII;" "" "heterozygous, {USMAWHRN:M613T} {MSV3dQ9P202:p.Met613Thr}" "Germline" "" "rs942519" "0" "" "" "g.114406753A>G" "" "benign" "" "0000367309" "3" "11" "9" "117169033" "117169033" "subst" "0.529199" "02416" "DFNB31_000003" "g.117169033A>G" "" "{PMID:Rong et al., 2014:24831256}" "-FatI;-NlaIII;-CviAII;" "" "homozygous, {USMAWHRN:M613T} {MSV3dQ9P202:p.Met613Thr}" "Germline" "" "rs942519" "0" "" "" "g.114406753A>G" "" "benign" "" "0000367310" "0" "11" "9" "117169033" "117169033" "subst" "0.529199" "02416" "DFNB31_000003" "g.117169033A>G" "" "{PMID:Rong et al., 2014:24831256}" "-FatI;-NlaIII;-CviAII;" "" "heterozygous, {USMAWHRN:M613T} {MSV3dQ9P202:p.Met613Thr}" "Germline" "" "rs942519" "0" "" "" "g.114406753A>G" "" "benign" "" "0000367311" "0" "33" "9" "117168987" "117168987" "subst" "8.1359E-6" "02416" "DFNB31_000031" "g.117168987G>T" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "-BbvI;-CviKI_1;-Fnu4HI;-FauI;-ApeKI;-TseI;" "" "heterozygous, {USMAWHRN:S628R} {MSV3dQ9P202:p.Ser628Arg}" "Germline" "" "" "0" "" "" "g.114406707G>T" "" "likely benign" "ACMG" "0000367312" "3" "11" "9" "117168984" "117168984" "subst" "0.000252293" "02416" "DFNB31_000022" "g.117168984C>T" "0.046 (patients)" "{PMID:Aller et al., 2010:20352026}" "-FauI;-AciI;-Cac8I;" "1886G>A" "homozygous" "Germline" "" "" "0" "" "" "g.114406704C>T" "" "benign" "" "0000367313" "0" "11" "9" "117168984" "117168984" "subst" "0.000252293" "02416" "DFNB31_000022" "g.117168984C>T" "0.046 (patients)" "{PMID:Aller et al., 2010:20352026}" "-FauI;-AciI;-Cac8I;" "1886G>A" "Heterozygous" "Germline" "" "" "0" "" "" "g.114406704C>T" "" "benign" "" "0000367314" "0" "33" "9" "117168928" "117168928" "subst" "0.000330445" "02416" "DFNB31_000032" "g.117168928G>T" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "-EarI;-MboII;" "" "heterozygous, {USMAWHRN:S648Y} {MSV3dQ9P202:p.Ser648Tyr}" "Germline" "" "" "0" "" "" "g.114406648G>T" "" "likely benign" "ACMG" "0000367315" "0" "13" "9" "117168753" "117168753" "subst" "0.000101894" "02419" "DFNB31_000049" "g.117168753T>C" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+Tsp45I;-BccI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114406473T>C" "" "likely benign" "ACMG" "0000367316" "0" "13" "9" "117168753" "117168753" "subst" "0.000101894" "02419" "DFNB31_000049" "g.117168753T>C" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+Tsp45I;-BccI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114406473T>C" "" "likely benign" "ACMG" "0000367317" "0" "33" "9" "117168702" "117168702" "subst" "0" "02416" "DFNB31_000033" "g.117168702C>T" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "-FatI;-NlaIII;-CviAII;" "" "heterozygous, {USMAWHRN:M723I} {MSV3dQ9P202:p.Met723Ile}" "Germline" "" "" "0" "" "" "g.114406422C>T" "" "likely benign" "ACMG" "0000367318" "0" "75" "9" "117168637" "117168637" "subst" "0.0001675" "02416" "DFNB31_000079" "g.117168637C>T" "" "{PMID:Aparisi et al., 2014:25404053}" "" "" "heterozygous, {USMAWHRN:R745H} {MSV3dQ9P202:p.Arg745His}" "Germline" "" "rs555619169" "0" "" "" "g.114406357C>T" "" "VUS" "ACMG" "0000367319" "0" "11" "9" "117168551" "117168551" "subst" "0" "02416" "DFNB31_000040" "g.117168551C>A" "0.021 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "" "Heterozygous" "Germline" "" "rs10982200" "0" "" "" "g.114406271C>A" "" "benign" "" "0000367320" "0" "11" "9" "117166401" "117166401" "subst" "0" "02416" "DFNB31_000041" "g.117166401G>A" "0.008 (patients)" "{PMID:Aller et al., 2010:20352026}" "+BpmI;+MlyI;+PleI;+HinfI;-BseYI;" "" "Heterozygous" "Germline" "" "rs766835" "0" "" "" "g.114404121G>A" "" "benign" "" "0000367321" "3" "11" "9" "117166311" "117166311" "subst" "0.0913348" "02416" "DFNB31_000023" "g.117166311G>A" "0.077 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "" "homozygous" "Germline" "" "rs34963246" "0" "" "" "g.114404031G>A" "" "benign" "" "0000367322" "0" "11" "9" "117166311" "117166311" "subst" "0.0913348" "02416" "DFNB31_000023" "g.117166311G>A" "0.077 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "" "Heterozygous" "Germline" "" "rs34963246" "0" "" "" "g.114404031G>A" "" "benign" "" "0000367323" "0" "33" "9" "117166287" "117166287" "subst" "0.000114148" "02416" "DFNB31_000024" "g.117166287G>A" "0.005 (patients)" "{PMID:Aller et al., 2010:20352026}" "+HphI;-Cac8I;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114404007G>A" "" "likely benign" "ACMG" "0000367324" "3" "99" "9" "117166262" "117166262" "subst" "0" "00110" "DFNB31_000001" "g.117166262G>A" "0/100 controls" "{PMID:Mburu et al., 2003:12833159}" "+BbvCI;+Bpu10I;+DdeI;-PhoI;-HaeIII;-BsaJI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.114403982G>A" "" "pathogenic" "" "0000367325" "3" "99" "9" "117166262" "117166262" "subst" "0" "00110" "DFNB31_000001" "g.117166262G>A" "0/100 controls" "{PMID:Mburu et al., 2003:12833159}" "+BbvCI;+Bpu10I;+DdeI;-PhoI;-HaeIII;-BsaJI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.114403982G>A" "" "pathogenic" "" "0000367326" "3" "99" "9" "117166262" "117166262" "subst" "0" "00110" "DFNB31_000001" "g.117166262G>A" "0/100 controls" "{PMID:Mburu et al., 2003:12833159}" "+BbvCI;+Bpu10I;+DdeI;-PhoI;-HaeIII;-BsaJI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.114403982G>A" "" "pathogenic" "" "0000367327" "3" "99" "9" "117166262" "117166262" "subst" "0" "00110" "DFNB31_000001" "g.117166262G>A" "0/100 controls" "{PMID:Mburu et al., 2003:12833159}" "+BbvCI;+Bpu10I;+DdeI;-PhoI;-HaeIII;-BsaJI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.114403982G>A" "" "pathogenic" "" "0000367328" "3" "99" "9" "117166262" "117166262" "subst" "0" "00110" "DFNB31_000001" "g.117166262G>A" "0/100 controls" "{PMID:Mburu et al., 2003:12833159}" "+BbvCI;+Bpu10I;+DdeI;-PhoI;-HaeIII;-BsaJI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.114403982G>A" "" "pathogenic" "" "0000367329" "3" "99" "9" "117166262" "117166262" "subst" "0" "00110" "DFNB31_000001" "g.117166262G>A" "0/100 controls" "{PMID:Mburu et al., 2003:12833159}" "+BbvCI;+Bpu10I;+DdeI;-PhoI;-HaeIII;-BsaJI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.114403982G>A" "" "pathogenic" "" "0000367330" "3" "11" "9" "117166246" "117166246" "subst" "0.481232" "00110" "DFNB31_000004" "g.117166246A>G" "" "{PMID:Tlili et al., 2005:15841483}" "+BsaHI;+HgaI;" "" "homozygous, {USMAWHRN:V783A} {MSV3dQ9P202:p.Val783Ala}" "Germline" "" "rs2274159" "0" "" "" "g.114403966A>G" "" "benign" "" "0000367331" "3" "11" "9" "117166246" "117166246" "subst" "0.481232" "00110" "DFNB31_000004" "g.117166246A>G" "" "{PMID:Tlili et al., 2005:15841483}" "+BsaHI;+HgaI;" "" "homozygous, {USMAWHRN:V783A} {MSV3dQ9P202:p.Val783Ala}" "Germline" "" "rs2274159" "0" "" "" "g.114403966A>G" "" "benign" "" "0000367332" "3" "11" "9" "117166246" "117166246" "subst" "0.481232" "00110" "DFNB31_000004" "g.117166246A>G" "" "{PMID:Tlili et al., 2005:15841483}" "+BsaHI;+HgaI;" "" "homozygous, {USMAWHRN:V783A} {MSV3dQ9P202:p.Val783Ala}" "Germline" "" "rs2274159" "0" "" "" "g.114403966A>G" "" "benign" "" "0000367333" "3" "11" "9" "117166246" "117166246" "subst" "0.481232" "00110" "DFNB31_000004" "g.117166246A>G" "" "{PMID:Tlili et al., 2005:15841483}" "+BsaHI;+HgaI;" "" "homozygous, {USMAWHRN:V783A} {MSV3dQ9P202:p.Val783Ala}" "Germline" "" "rs2274159" "0" "" "" "g.114403966A>G" "" "benign" "" "0000367334" "0" "11" "9" "117166246" "117166246" "subst" "0.481232" "02416" "DFNB31_000004" "g.117166246A>G" "" "" "+BsaHI;+HgaI;" "" "heterozygous, {USMAWHRN:V783A} {MSV3dQ9P202:p.Val783Ala}" "Germline" "" "rs2274159" "0" "" "" "g.114403966A>G" "" "benign" "" "0000367335" "3" "11" "9" "117166246" "117166246" "subst" "0.481232" "02416" "DFNB31_000004" "g.117166246A>G" "0.392 (patients)" "{PMID:Aller et al., 2010:20352026}" "+BsaHI;+HgaI;" "" "homozygous, {USMAWHRN:V783A} {MSV3dQ9P202:p.Val783Ala}" "Germline" "" "rs2274159" "0" "" "" "g.114403966A>G" "" "benign" "" "0000367336" "0" "11" "9" "117166246" "117166246" "subst" "0.481232" "02416" "DFNB31_000004" "g.117166246A>G" "0.392 (patients)" "{PMID:Aller et al., 2010:20352026}" "+BsaHI;+HgaI;" "" "heterozygous, {USMAWHRN:V783A} {MSV3dQ9P202:p.Val783Ala}" "Germline" "" "rs2274159" "0" "" "" "g.114403966A>G" "" "benign" "" "0000367337" "3" "11" "9" "117166246" "117166246" "subst" "0.481232" "02416" "DFNB31_000004" "g.117166246A>G" "" "{PMID:Rong et al., 2014:24831256}" "+BsaHI;+HgaI;" "" "homozygous, {USMAWHRN:V783A} {MSV3dQ9P202:p.Val783Ala}" "Germline" "" "rs2274159" "0" "" "" "g.114403966A>G" "" "benign" "" "0000367338" "0" "11" "9" "117166246" "117166246" "subst" "0.481232" "02416" "DFNB31_000004" "g.117166246A>G" "" "{PMID:Rong et al., 2014:24831256}" "+BsaHI;+HgaI;" "" "heterozygous, {USMAWHRN:V783A} {MSV3dQ9P202:p.Val783Ala}" "Germline" "" "rs2274159" "0" "" "" "g.114403966A>G" "" "benign" "" "0000367339" "0" "11" "9" "117166206" "117166206" "subst" "0.254701" "02416" "DFNB31_000018" "g.117166206G>T" "" "" "none" "" "heterozygous, {USMAWHRN:N796K} {MSV3dQ9P202:p.Asn796Lys}" "Germline" "" "rs2274158" "0" "" "" "g.114403926G>T" "" "benign" "" "0000367340" "3" "11" "9" "117166206" "117166206" "subst" "0.254701" "02416" "DFNB31_000018" "g.117166206G>T" "0.218 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "" "homozygous, {USMAWHRN:N796K} {MSV3dQ9P202:p.Asn796Lys}" "Germline" "" "rs2274158" "0" "" "" "g.114403926G>T" "" "benign" "" "0000367341" "0" "11" "9" "117166206" "117166206" "subst" "0.254701" "02416" "DFNB31_000018" "g.117166206G>T" "0.218 (patients)" "{PMID:Aller et al., 2010:20352026}" "none" "" "heterozygous, {USMAWHRN:N796K} {MSV3dQ9P202:p.Asn796Lys}" "Germline" "" "rs2274158" "0" "" "" "g.114403926G>T" "" "benign" "" "0000367342" "3" "11" "9" "117166206" "117166206" "subst" "0.254701" "02416" "DFNB31_000018" "g.117166206G>T" "" "{PMID:Rong et al., 2014:24831256}" "none" "" "homozygous, {USMAWHRN:N796K} {MSV3dQ9P202:p.Asn796Lys}" "Germline" "" "rs2274158" "0" "" "" "g.114403926G>T" "" "benign" "" "0000367343" "3" "11" "9" "117166034" "117166034" "subst" "0" "02416" "DFNB31_000042" "g.117166034T>C" "0.074 (patients)" "{PMID:Aller et al., 2010:20352026}" "+HgaI;-AatII;-ZraI;-HpyCH4IV;" "" "homozygous" "Germline" "" "rs10739410" "0" "" "" "g.114403754T>C" "" "benign" "" "0000367344" "0" "11" "9" "117166034" "117166034" "subst" "0" "02416" "DFNB31_000042" "g.117166034T>C" "0.074 (patients)" "{PMID:Aller et al., 2010:20352026}" "+HgaI;-AatII;-ZraI;-HpyCH4IV;" "" "Heterozygous" "Germline" "" "rs10739410" "0" "" "" "g.114403754T>C" "" "benign" "" "0000367345" "0" "11" "9" "117165737" "117165737" "subst" "0" "02416" "DFNB31_000043" "g.117165737C>T" "0.031 (patients)" "{PMID:Aller et al., 2010:20352026}" "+XcmI;-Hpy188III;" "" "Heterozygous" "Germline" "" "rs55833018" "0" "" "" "g.114403457C>T" "" "benign" "" "0000367346" "0" "33" "9" "117165635" "117165635" "subst" "0" "02416" "DFNB31_000044" "g.117165635A>G" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "+MnlI;+BsmFI;-HpyAV;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114403355A>G" "" "likely benign" "ACMG" "0000367347" "3" "11" "9" "117166177" "117166177" "subst" "0" "00110" "DFNB31_000005" "g.117166177G>T" "" "{PMID:Tlili et al., 2005:15841483}" "-MspI;-BsrFI;-BsaWI;-HpaII;-AgeI;" "" "homozygous, {USMAWHRN:P806Q} {MSV3dQ9P202:p.Pro806Gln}" "Germline" "" "" "0" "" "" "g.114403897G>T" "" "benign" "" "0000367348" "3" "11" "9" "117166177" "117166177" "subst" "0" "00110" "DFNB31_000005" "g.117166177G>T" "" "{PMID:Tlili et al., 2005:15841483}" "-MspI;-BsrFI;-BsaWI;-HpaII;-AgeI;" "" "homozygous, {USMAWHRN:P806Q} {MSV3dQ9P202:p.Pro806Gln}" "Germline" "" "" "0" "" "" "g.114403897G>T" "" "benign" "" "0000367349" "3" "11" "9" "117166177" "117166177" "subst" "0" "00110" "DFNB31_000005" "g.117166177G>T" "" "{PMID:Tlili et al., 2005:15841483}" "-MspI;-BsrFI;-BsaWI;-HpaII;-AgeI;" "" "homozygous, {USMAWHRN:P806Q} {MSV3dQ9P202:p.Pro806Gln}" "Germline" "" "" "0" "" "" "g.114403897G>T" "" "benign" "" "0000367350" "3" "11" "9" "117166177" "117166177" "subst" "0" "00110" "DFNB31_000005" "g.117166177G>T" "" "{PMID:Tlili et al., 2005:15841483}" "-MspI;-BsrFI;-BsaWI;-HpaII;-AgeI;" "" "homozygous, {USMAWHRN:P806Q} {MSV3dQ9P202:p.Pro806Gln}" "Germline" "" "" "0" "" "" "g.114403897G>T" "" "benign" "" "0000367351" "3" "99" "9" "117165616" "117165616" "del" "0" "00110" "DFNB31_000006" "g.117165616del" "" "{PMID:Tlili et al., 2005:15841483}" "-ScrFI;-PflMI;-BslI;-BssKI;-StyD4I;-BstNI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.114403336del" "" "pathogenic" "" "0000367352" "3" "99" "9" "117165616" "117165616" "del" "0" "00110" "DFNB31_000006" "g.117165616del" "" "{PMID:Tlili et al., 2005:15841483}" "-ScrFI;-PflMI;-BslI;-BssKI;-StyD4I;-BstNI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.114403336del" "" "pathogenic" "" "0000367353" "3" "99" "9" "117165616" "117165616" "del" "0" "00110" "DFNB31_000006" "g.117165616del" "" "{PMID:Tlili et al., 2005:15841483}" "-ScrFI;-PflMI;-BslI;-BssKI;-StyD4I;-BstNI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.114403336del" "" "pathogenic" "" "0000367354" "3" "99" "9" "117165616" "117165616" "del" "0" "00110" "DFNB31_000006" "g.117165616del" "" "{PMID:Tlili et al., 2005:15841483}" "-ScrFI;-PflMI;-BslI;-BssKI;-StyD4I;-BstNI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.114403336del" "" "pathogenic" "" "0000367355" "0" "13" "9" "117165553" "117165553" "subst" "3.65643E-5" "02419" "DFNB31_000052" "g.117165553C>T" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+HphI;-BtgZI;" "" "heterozygous, {USMAWHRN:A829T} {MSV3dQ9P202:p.A829Thr}" "Germline" "" "rs139597771" "0" "" "" "g.114403273C>T" "" "likely benign" "ACMG" "0000367356" "0" "13" "9" "117165475" "117165475" "subst" "0" "02419" "DFNB31_000063" "g.117165475A>T" "" "{PMID:Le Quesne Stabej et al., 2012:22135276}" "+NspI;+FatI;+NlaIII;+CviAII;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.114403195A>T" "" "likely benign" "ACMG" "0000367357" "0" "75" "9" "117165216" "117165216" "subst" "0" "02416" "DFNB31_000077" "g.117165216T>C" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "heterozygous, {USMAWHRN:R848G} {MSV3dQ9P202:p.Arg848Gly}" "Germline" "" "" "0" "" "" "g.114402936T>C" "" "VUS" "ACMG" "0000367358" "0" "33" "9" "117165114" "117165114" "subst" "0.000335011" "02416" "DFNB31_000034" "g.117165114G>T" "0.003 (patients)" "{PMID:Aller et al., 2010:20352026}" "-FauI;-AciI;" "" "heterozygous, {USMAWHRN:R882S} {MSV3dQ9P202:p.Arg882Ser}" "Germline" "" "" "0" "" "" "g.114402834G>T" "" "likely benign" "ACMG" "0000408228" "0" "90" "9" "0" "0" "" "0" "00006" "DFNB31_000000" "g.(117266727)del" "" "Baradaran-Heravi ASHG2018 P2366" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000536057" "0" "50" "9" "117165114" "117165114" "subst" "0.000335011" "01943" "DFNB31_000034" "g.117165114G>T" "" "" "" "WHRN(NM_015404.3):c.2644C>A (p.R882S), WHRN(NM_015404.4):c.2644C>A (p.R882S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114402834G>T" "" "VUS" "" "0000536058" "0" "30" "9" "117165548" "117165548" "subst" "8.12836E-6" "01943" "AKNA_000002" "g.117165548G>A" "" "" "" "WHRN(NM_015404.3):c.2490C>T (p.I830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114403268G>A" "" "likely benign" "" "0000536059" "0" "10" "9" "117165599" "117165599" "subst" "0.00123985" "02330" "AKNA_000003" "g.117165599C>T" "" "" "" "WHRN(NM_015404.4):c.2439G>A (p.T813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114403319C>T" "" "benign" "" "0000536060" "0" "30" "9" "117166210" "117166210" "subst" "0.000474608" "02326" "DFNB31_000104" "g.117166210C>T" "" "" "" "DFNB31(NM_015404.3):c.2384G>A (p.R795Q), WHRN(NM_015404.4):c.2384G>A (p.R795Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114403930C>T" "" "likely benign" "" "0000536061" "0" "30" "9" "117166240" "117166240" "subst" "0.000306553" "01943" "DFNB31_000131" "g.117166240G>A" "" "" "" "WHRN(NM_015404.3):c.2354C>T (p.T785I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114403960G>A" "" "likely benign" "" "0000536062" "0" "10" "9" "117168825" "117168825" "subst" "0.00127272" "02330" "DFNB31_000132" "g.117168825C>G" "" "" "" "WHRN(NM_015404.4):c.2046G>C (p.R682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114406545C>G" "" "benign" "" "0000536063" "0" "50" "9" "117168883" "117168883" "subst" "3.27858E-5" "01943" "DFNB31_000133" "g.117168883C>T" "" "" "" "WHRN(NM_015404.3):c.1988G>A (p.R663K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114406603C>T" "" "VUS" "" "0000536064" "0" "50" "9" "117168928" "117168928" "subst" "0.000330445" "01943" "DFNB31_000032" "g.117168928G>T" "" "" "" "WHRN(NM_015404.3):c.1943C>A (p.S648Y), WHRN(NM_015404.4):c.1943C>A (p.S648Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114406648G>T" "" "VUS" "" "0000536065" "0" "30" "9" "117169155" "117169155" "subst" "0.000179313" "01943" "DFNB31_000134" "g.117169155G>A" "" "" "" "WHRN(NM_015404.3):c.1716C>T (p.T572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114406875G>A" "" "likely benign" "" "0000536066" "0" "30" "9" "117170242" "117170242" "subst" "0" "02330" "DFNB31_000135" "g.117170242G>A" "" "" "" "WHRN(NM_015404.4):c.1683C>T (p.L561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114407962G>A" "" "likely benign" "" "0000536067" "0" "50" "9" "117185727" "117185727" "subst" "8.12275E-5" "02330" "DFNB31_000136" "g.117185727C>T" "" "" "" "WHRN(NM_015404.4):c.1493G>A (p.R498H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114423447C>T" "" "VUS" "" "0000536068" "0" "10" "9" "117185766" "117185766" "subst" "0.00378208" "02330" "DFNB31_000137" "g.117185766G>A" "" "" "" "DFNB31(NM_015404.3):c.1454C>T (p.P485L), WHRN(NM_015404.4):c.1454C>T (p.P485L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114423486G>A" "" "benign" "" "0000536069" "0" "30" "9" "117185766" "117185766" "subst" "0.00378208" "01943" "DFNB31_000137" "g.117185766G>A" "" "" "" "DFNB31(NM_015404.3):c.1454C>T (p.P485L), WHRN(NM_015404.4):c.1454C>T (p.P485L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114423486G>A" "" "likely benign" "" "0000536070" "0" "50" "9" "117188509" "117188509" "subst" "0.000292704" "02330" "DFNB31_000027" "g.117188509G>T" "" "" "" "WHRN(NM_015404.3):c.1148C>A (p.T383N), WHRN(NM_015404.4):c.1148C>A (p.T383N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114426229G>T" "" "VUS" "" "0000536071" "0" "50" "9" "117188522" "117188522" "subst" "0.000630153" "02327" "DFNB31_000046" "g.117188522G>A" "" "" "" "WHRN(NM_015404.3):c.1135C>T (p.R379W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114426242G>A" "" "VUS" "" "0000536072" "0" "50" "9" "117188663" "117188663" "subst" "2.46627E-5" "01943" "DFNB31_000138" "g.117188663G>A" "" "" "" "WHRN(NM_015404.3):c.994C>T (p.R332W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114426383G>A" "" "VUS" "" "0000536073" "0" "30" "9" "117228541" "117228542" "dup" "0" "01943" "DFNB31_000139" "g.117228541_117228542dup" "" "" "" "WHRN(NM_015404.3):c.963+6_963+7dupGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114466261_114466262dup" "" "likely benign" "" "0000536074" "0" "30" "9" "117228577" "117228577" "subst" "0.00137312" "01943" "DFNB31_000140" "g.117228577T>G" "" "" "" "WHRN(NM_001173425.2):c.933A>C (p.P311=), WHRN(NM_015404.3):c.933A>C (p.P311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114466297T>G" "" "likely benign" "" "0000536075" "0" "50" "9" "117228632" "117228632" "subst" "0" "01943" "DFNB31_000141" "g.117228632G>C" "" "" "" "WHRN(NM_015404.3):c.878C>G (p.T293R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114466352G>C" "" "VUS" "" "0000536076" "0" "10" "9" "117240906" "117240906" "subst" "0.000933003" "01943" "DFNB31_000124" "g.117240906C>T" "" "" "" "WHRN(NM_015404.3):c.764G>A (p.G255D), WHRN(NM_015404.4):c.764G>A (p.G255D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114478626C>T" "" "benign" "" "0000536077" "0" "10" "9" "117241002" "117241002" "subst" "0.00629489" "01943" "DFNB31_000126" "g.117241002C>T" "" "" "" "DFNB31(NM_001083885.2):c.-482G>A (p.(=)), WHRN(NM_015404.3):c.668G>A (p.R223H), WHRN(NM_015404.4):c.668G>A (p.R223H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114478722C>T" "" "benign" "" "0000536078" "0" "10" "9" "117241003" "117241003" "subst" "0.00119496" "01943" "DFNB31_000142" "g.117241003G>A" "" "" "" "WHRN(NM_015404.3):c.667C>T (p.R223C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114478723G>A" "" "benign" "" "0000536079" "0" "30" "9" "117241010" "117241010" "subst" "0" "01943" "DFNB31_000143" "g.117241010T>C" "" "" "" "WHRN(NM_015404.3):c.660A>G (p.S220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114478730T>C" "" "likely benign" "" "0000536080" "0" "50" "9" "117266673" "117266673" "subst" "0.000708311" "01943" "DFNB31_000064" "g.117266673C>G" "" "" "" "WHRN(NM_015404.3):c.409G>C (p.E137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114504393C>G" "" "VUS" "" "0000536081" "0" "50" "9" "117266738" "117266738" "subst" "2.53962E-5" "02327" "DFNB31_000144" "g.117266738T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114504458T>C" "" "VUS" "" "0000536082" "0" "50" "9" "117266754" "117266754" "subst" "0.000202494" "01943" "DFNB31_000127" "g.117266754T>C" "" "" "" "WHRN(NM_015404.3):c.328A>G (p.T110A), WHRN(NM_015404.4):c.328A>G (p.T110A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114504474T>C" "" "VUS" "" "0000536083" "0" "50" "9" "117266891" "117266891" "subst" "0.000535573" "02330" "DFNB31_000145" "g.117266891G>T" "" "" "" "WHRN(NM_015404.4):c.191C>A (p.A64D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114504611G>T" "" "VUS" "" "0000611822" "0" "30" "9" "117166272" "117166272" "subst" "0.000546809" "01943" "DFNB31_000146" "g.117166272G>A" "" "" "" "WHRN(NM_015404.3):c.2322C>T (p.S774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114403992G>A" "" "likely benign" "" "0000611823" "0" "30" "9" "117166367" "117166367" "subst" "0.00023139" "02330" "DFNB31_000147" "g.117166367G>C" "" "" "" "WHRN(NM_015404.4):c.2237-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114404087G>C" "" "likely benign" "" "0000611824" "0" "30" "9" "117266681" "117266681" "subst" "0" "01943" "DFNB31_000148" "g.117266681C>T" "" "" "" "WHRN(NM_015404.3):c.401G>A (p.G134E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114504401C>T" "" "likely benign" "" "0000652578" "1" "50" "9" "117165528" "117165528" "subst" "0.000792387" "03575" "DFNB31_000149" "g.117165528C>T" "4/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs55749855}" "Germline" "" "rs55749855" "0" "" "" "g.114403248C>T" "" "VUS" "" "0000652579" "1" "30" "9" "117185766" "117185766" "subst" "0.00378208" "03575" "DFNB31_000137" "g.117185766G>A" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs79572315}" "Germline" "" "rs79572315" "0" "" "" "g.114423486G>A" "" "likely benign" "" "0000652580" "1" "90" "9" "117185804" "117185804" "subst" "1.64982E-5" "03575" "DFNB31_000150" "g.117185804C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs779760634}" "Germline" "" "rs779760634" "0" "" "" "g.114423524C>T" "" "pathogenic" "" "0000652581" "1" "90" "9" "117186763" "117186763" "subst" "0" "03575" "DFNB31_000078" "g.117186763G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397517255}" "Germline" "" "rs397517255" "0" "" "" "g.114424483G>A" "" "pathogenic" "" "0000652582" "1" "30" "9" "117188522" "117188522" "subst" "0.000630153" "03575" "DFNB31_000046" "g.117188522G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs56059137}" "Germline" "" "rs56059137" "0" "" "" "g.114426242G>A" "" "likely benign" "" "0000652583" "1" "50" "9" "117188609" "117188609" "subst" "0.000374514" "03575" "DFNB31_000026" "g.117188609G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs142990800}" "Germline" "" "rs142990800" "0" "" "" "g.114426329G>A" "" "VUS" "" "0000652584" "1" "50" "9" "117241002" "117241002" "subst" "0.00629489" "03575" "DFNB31_000126" "g.117241002C>T" "199/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 199 heterozygous; {DB:CLININrs146273185}" "Germline" "" "rs146273185" "0" "" "" "g.114478722C>T" "" "VUS" "" "0000656203" "0" "30" "9" "117168971" "117168971" "subst" "4.88257E-5" "01943" "DFNB31_000151" "g.117168971C>T" "" "" "" "WHRN(NM_015404.3):c.1900G>A (p.A634T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114406691C>T" "" "likely benign" "" "0000656204" "0" "50" "9" "117186682" "117186682" "subst" "6.49931E-5" "01943" "DFNB31_000152" "g.117186682G>A" "" "" "" "WHRN(NM_015404.3):c.1348C>T (p.R450C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114424402G>A" "" "VUS" "" "0000656205" "0" "30" "9" "117228577" "117228577" "subst" "0.00137312" "02330" "DFNB31_000140" "g.117228577T>G" "" "" "" "WHRN(NM_001173425.2):c.933A>C (p.P311=), WHRN(NM_015404.3):c.933A>C (p.P311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114466297T>G" "" "likely benign" "" "0000670034" "3" "50" "9" "117241002" "117241002" "subst" "0.00629489" "03575" "DFNB31_000126" "g.117241002C>T" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 9 homozygous; {DB:CLININrs146273185}" "Germline" "" "rs146273185" "0" "" "" "g.114478722C>T" "" "VUS" "" "0000690376" "0" "30" "9" "117165147" "117165147" "subst" "1.63973E-5" "01943" "AKNA_000004" "g.117165147T>C" "" "" "" "WHRN(NM_015404.3):c.2611A>G (p.T871A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690377" "0" "50" "9" "117168811" "117168811" "subst" "7.76309E-5" "01943" "DFNB31_000153" "g.117168811G>A" "" "" "" "WHRN(NM_015404.3):c.2060C>T (p.P687L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690378" "0" "50" "9" "117188608" "117188608" "subst" "3.2564E-5" "01943" "DFNB31_000154" "g.117188608C>T" "" "" "" "WHRN(NM_015404.3):c.1049G>A (p.R350Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722217" "0" "50" "9" "117166204" "117166204" "subst" "9.40865E-5" "01943" "DFNB31_000155" "g.117166204T>C" "" "" "" "WHRN(NM_015404.3):c.2390A>G (p.E797G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722218" "0" "50" "9" "117188509" "117188509" "subst" "0.000292704" "01943" "DFNB31_000027" "g.117188509G>T" "" "" "" "WHRN(NM_015404.3):c.1148C>A (p.T383N), WHRN(NM_015404.4):c.1148C>A (p.T383N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722219" "0" "30" "9" "117240985" "117240985" "subst" "0" "01943" "DFNB31_000156" "g.117240985C>T" "" "" "" "WHRN(NM_015404.3):c.685G>A (p.V229I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722220" "0" "30" "9" "117241043" "117241043" "subst" "0" "01943" "DFNB31_000157" "g.117241043C>T" "" "" "" "WHRN(NM_015404.3):c.627G>A (p.K209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722221" "0" "50" "9" "117266706" "117266708" "del" "0" "01943" "DFNB31_000158" "g.117266706_117266708del" "" "" "" "WHRN(NM_015404.3):c.376_378delGCC (p.A126del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722222" "0" "50" "9" "117267036" "117267036" "subst" "0" "01943" "DFNB31_000159" "g.117267036C>T" "" "" "" "WHRN(NM_015404.3):c.46G>A (p.G16S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000736832" "0" "50" "9" "117266706" "117266708" "del" "0" "00000" "DFNB31_000158" "g.117266706_117266708del" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs777938907" "0" "" "" "g.114504426_114504428del" "" "VUS" "" "0000760390" "0" "50" "9" "117169063" "117169063" "subst" "2.86826E-5" "00000" "DFNB31_000160" "g.117169063C>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.114406783C>A" "" "VUS" "" "0000760522" "0" "50" "9" "117170303" "117170303" "subst" "0.00155485" "00000" "DFNB31_000075" "g.117170303A>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.114408023A>T" "" "VUS" "" "0000784621" "0" "50" "9" "117165498" "117165498" "subst" "0.000117766" "00000" "DFNB31_000161" "g.117165498T>C" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "1/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.114403218T>C" "" "VUS" "" "0000784622" "0" "50" "9" "117241002" "117241002" "subst" "0.00629489" "00000" "DFNB31_000126" "g.117241002C>T" "4/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "37/1266 control chromosomes" "Germline" "" "rs146273185" "0" "" "" "g.114478722C>T" "" "VUS" "" "0000785573" "0" "50" "9" "117169179" "117169179" "subst" "0" "00000" "DFNB31_000162" "g.117169179A>C" "" "{PMID:Liu 2015:25611614}" "" "" "variant found in controls" "Germline" "no" "" "0" "" "" "g.114406899A>C" "" "VUS" "" "0000792268" "0" "90" "9" "117168928" "117168928" "subst" "0.000330445" "00000" "DFNB31_000032" "g.117168928G>T" "" "{PMID:_Audo-2012:22277662}" "" "c.1943C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792269" "0" "90" "9" "117165114" "117165114" "subst" "0.000335011" "00000" "DFNB31_000034" "g.117165114G>T" "" "{PMID:_Audo-2012:22277662}" "" "c.2644C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796162" "3" "90" "9" "117266922" "117266922" "subst" "0" "00000" "DFNB31_000163" "g.117266922G>A" "" "{PMID:Nishiguchi-2013:24043777}" "" "c.160C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000798119" "0" "70" "9" "117169021" "117169021" "subst" "0.000236072" "00000" "DFNB31_000112" "g.117169021G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "WHRN c.1850C>T, p.(Ser617Leu)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.114406741G>A" "" "likely pathogenic" "ACMG" "0000803836" "0" "50" "9" "117165093" "117165093" "subst" "0.000114095" "01943" "AKNA_000005" "g.117165093T>C" "" "" "" "WHRN(NM_015404.3):c.2665A>G (p.K889E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803837" "0" "50" "9" "117165141" "117165141" "subst" "4.09675E-6" "01943" "AKNA_000006" "g.117165141G>A" "" "" "" "WHRN(NM_015404.3):c.2617C>T (p.R873W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803838" "0" "50" "9" "117165528" "117165528" "subst" "0.000792387" "01943" "DFNB31_000149" "g.117165528C>T" "" "" "" "WHRN(NM_015404.3):c.2510G>A (p.R837H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803839" "0" "30" "9" "117185765" "117185765" "subst" "0.0005904" "01943" "DFNB31_000019" "g.117185765C>T" "" "" "" "WHRN(NM_001173425.2):c.1455G>A (p.P485=), WHRN(NM_015404.3):c.1455G>A (p.P485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803840" "0" "50" "9" "117188522" "117188522" "subst" "0.000630153" "01943" "DFNB31_000046" "g.117188522G>A" "" "" "" "WHRN(NM_015404.3):c.1135C>T (p.R379W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803841" "0" "30" "9" "117188532" "117188532" "subst" "0.000158522" "02330" "DFNB31_000164" "g.117188532G>A" "" "" "" "WHRN(NM_001173425.2):c.1125C>T (p.I375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803842" "0" "50" "9" "117267038" "117267038" "subst" "0" "01943" "DFNB31_000165" "g.117267038G>A" "" "" "" "WHRN(NM_015404.3):c.44C>T (p.T15I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815965" "3" "90" "9" "117266887" "117266887" "subst" "0" "00000" "DFNB31_000167" "g.117266887G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "DFNB31 c.195C>A, p.Tyr65Ter" "homozygous" "Unknown" "?" "" "0" "" "" "g.114504607G>T" "" "pathogenic" "" "0000816316" "0" "90" "9" "117266887" "117266887" "subst" "0" "00000" "DFNB31_000167" "g.117266887G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.195C>A, p.Tyr65Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.114504607G>T" "" "pathogenic" "" "0000817000" "21" "50" "9" "114402080" "114478772" "dup" "0" "02416" "DFNB31_000166" "g.(?_114402080)_(114478772_114504183)dup" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000818189" "0" "90" "9" "117266673" "117266673" "dup" "0" "00000" "DFNB31_000168" "g.117266673dupC" "" "{PMID:Wang 2016:27788217}" "" "c.409dupG(p.E137Gfs*42)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818198" "0" "90" "9" "117266673" "117266673" "dup" "0" "00000" "DFNB31_000169" "g.117266673dup" "" "{PMID:Wang 2016:27788217}" "" "c.409dupG(p.E137Gfs*42)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827570" "3" "90" "9" "117186763" "117186763" "subst" "0" "00000" "DFNB31_000078" "g.117186763G>A" "" "{PMID:Colombo-2020:33576794}" "" "WHRN:c.1267C>T" "" "Germline" "" "rs397517255" "0" "" "" "" "" "pathogenic" "" "0000852069" "0" "50" "9" "117165619" "117165619" "subst" "0.000138343" "01943" "AKNA_000007" "g.117165619G>C" "" "" "" "WHRN(NM_015404.3):c.2419C>G (p.P807A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852070" "0" "30" "9" "117185765" "117185765" "subst" "0.0005904" "02330" "DFNB31_000019" "g.117185765C>T" "" "" "" "WHRN(NM_001173425.2):c.1455G>A (p.P485=), WHRN(NM_015404.3):c.1455G>A (p.P485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852071" "0" "50" "9" "117266511" "117266511" "subst" "0" "01943" "DFNB31_000171" "g.117266511C>A" "" "" "" "WHRN(NM_015404.3):c.571G>T (p.V191F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861354" "0" "30" "9" "117166344" "117166344" "subst" "6.54028E-5" "02330" "DFNB31_000108" "g.117166344G>A" "" "" "" "WHRN(NM_001173425.2):c.2247C>T (p.L749=), WHRN(NM_015404.3):c.2250C>T (p.L750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861355" "0" "30" "9" "117170248" "117170248" "subst" "0.000215041" "01943" "DFNB31_000170" "g.117170248G>A" "" "" "" "WHRN(NM_015404.3):c.1677C>T (p.N559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861356" "0" "50" "9" "117266574" "117266574" "subst" "1.22193E-5" "01943" "DFNB31_000172" "g.117266574G>C" "" "" "" "WHRN(NM_015404.3):c.508C>G (p.L170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861357" "0" "90" "9" "117266738" "117266738" "dup" "0" "01943" "DFNB31_000173" "g.117266738dup" "" "" "" "WHRN(NM_015404.3):c.344dupA (p.Y115*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861358" "0" "10" "9" "117266848" "117266848" "subst" "0.000181272" "02330" "DFNB31_000174" "g.117266848C>T" "" "" "" "WHRN(NM_001173425.2):c.234G>A (p.L78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861359" "0" "30" "9" "117267007" "117267007" "subst" "0" "02330" "DFNB31_000175" "g.117267007G>A" "" "" "" "WHRN(NM_001173425.2):c.75C>T (p.G25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870342" "3" "90" "9" "117240933" "117240933" "del" "0" "00000" "DFNB31_000012" "g.117240933del" "" "{PMID:Audo 2011:21738389}" "" "c.737delC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000888577" "0" "50" "9" "117165114" "117165114" "subst" "0.000335011" "02327" "DFNB31_000034" "g.117165114G>T" "" "" "" "WHRN(NM_015404.3):c.2644C>A (p.R882S), WHRN(NM_015404.4):c.2644C>A (p.R882S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888578" "0" "50" "9" "117168928" "117168928" "subst" "0.000330445" "02327" "DFNB31_000032" "g.117168928G>T" "" "" "" "WHRN(NM_015404.3):c.1943C>A (p.S648Y), WHRN(NM_015404.4):c.1943C>A (p.S648Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888579" "0" "90" "9" "117266627" "117266627" "subst" "0" "02329" "DFNB31_000176" "g.117266627A>T" "" "" "" "WHRN(NM_001173425.2):c.455T>A (p.L152*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000909787" "3" "50" "9" "117170241" "117170241" "subst" "0.090799" "00006" "DFNB31_000030" "g.117170241G>C" "" "{PMID:Taghipour-Sheshdeh 2019:29752989}" "" "P562A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000924948" "0" "30" "9" "117170230" "117170230" "subst" "0" "02330" "DFNB31_000177" "g.117170230G>A" "" "" "" "WHRN(NM_015404.4):c.1695C>T (p.S565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924949" "0" "70" "9" "117241052" "117241052" "subst" "0" "02327" "DFNB31_000178" "g.117241052C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000944271" "3" "90" "9" "117166205" "117166206" "del" "0" "00006" "DFNB31_000179" "g.117166205_117166206del" "" "{PMID:Richard 2019: 30303587}" "" "2388_2389delCG" "" "Germline" "" "" "0" "" "" "g.114403925_114403926del" "" "pathogenic (recessive)" "ACMG" "0000958987" "0" "90" "9" "117240936" "117240936" "del" "0" "00006" "DFNB31_000012" "g.117240936del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.114478656del" "" "pathogenic (recessive)" "ACMG" "0000959442" "0" "50" "9" "117166288" "117166288" "subst" "0" "00006" "DFNB31_000180" "g.117166288C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.114404008C>T" "" "VUS" "ACMG" "0000965144" "0" "30" "9" "117168984" "117168984" "subst" "0.000252293" "02330" "DFNB31_000022" "g.117168984C>T" "" "" "" "WHRN(NM_015404.4):c.1887G>A (p.P629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017842" "0" "30" "9" "117186681" "117186681" "subst" "0.000166541" "03779" "DFNB31_000181" "g.117186681C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs200377723" "0" "" "" "" "" "likely benign" "" ## 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 DFNB31 ## Count = 277 "{{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}}" "0000089907" "00006350" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.Met1_Pro92del" "" "0000246808" "00006350" "10" "1365" "0" "1365" "0" "c.1365T>C" "r.(?)" "p.(Ser455=)" "" "0000248608" "00006350" "10" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(Gly451=)" "" "0000248852" "00006350" "10" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Met613Thr)" "" "0000248945" "00006350" "10" "2348" "0" "2348" "0" "c.2348T>C" "r.(?)" "p.(Val783Ala)" "" "0000255009" "00006350" "30" "1365" "0" "1365" "0" "c.1365T>C" "r.(?)" "p.(Ser455=)" "" "0000255255" "00006350" "30" "1627" "-5" "1627" "-5" "c.1627-5T>A" "r.spl?" "p.?" "" "0000265310" "00006350" "50" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Cys)" "" "0000265311" "00006350" "50" "1850" "0" "1850" "0" "c.1850C>T" "r.(?)" "p.(Ser617Leu)" "" "0000265312" "00006350" "30" "1943" "0" "1943" "0" "c.1943C>A" "r.(?)" "p.(Ser648Tyr)" "" "0000265313" "00006350" "30" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Gly7Arg)" "" "0000265314" "00006350" "30" "2182" "0" "2182" "0" "c.2182C>T" "r.(?)" "p.(Arg728Cys)" "" "0000265315" "00006350" "50" "2644" "0" "2644" "0" "c.2644C>A" "r.(?)" "p.(Arg882Ser)" "" "0000265316" "00006350" "50" "328" "0" "328" "0" "c.328A>G" "r.(?)" "p.(Thr110Ala)" "" "0000265317" "00006350" "10" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" "" "0000265318" "00006350" "50" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Pro239Leu)" "" "0000265319" "00006350" "10" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Gly255Asp)" "" "0000267351" "00006350" "10" "1091" "0" "1091" "0" "c.1091=" "r.(=)" "p.(His364=)" "" "0000267352" "00006350" "10" "2256" "0" "2256" "0" "c.2256=" "r.(=)" "p.(Gln752=)" "" "0000274969" "00006350" "30" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Ala560Thr)" "" "0000274970" "00006350" "50" "1850" "0" "1850" "0" "c.1850C>T" "r.(?)" "p.(Ser617Leu)" "" "0000274971" "00006350" "50" "2027" "0" "2027" "0" "c.2027C>G" "r.(?)" "p.(Pro676Arg)" "" "0000274972" "00006350" "30" "229" "0" "229" "0" "c.229A>T" "r.(?)" "p.(Thr77Ser)" "" "0000274973" "00006350" "50" "2351" "0" "2351" "0" "c.2351C>G" "r.(?)" "p.(Ser784Cys)" "" "0000274974" "00006350" "30" "2384" "0" "2384" "0" "c.2384G>A" "r.(?)" "p.(Arg795Gln)" "" "0000274975" "00006350" "30" "33" "0" "33" "0" "c.33C>G" "r.(?)" "p.(Ser11Arg)" "" "0000319973" "00006350" "30" "1149" "0" "1149" "0" "c.1149C>T" "r.(?)" "p.(Thr383=)" "" "0000319974" "00006350" "30" "1608" "0" "1608" "0" "c.1608C>G" "r.(?)" "p.(Thr536=)" "" "0000319975" "00006350" "30" "1611" "0" "1611" "0" "c.1611C>T" "r.(?)" "p.(Thr537=)" "" "0000319976" "00006350" "30" "2250" "0" "2250" "0" "c.2250C>T" "r.(?)" "p.(Leu750=)" "" "0000319977" "00006350" "30" "2412" "0" "2412" "0" "c.2412C>T" "r.(?)" "p.(Asn804=)" "" "0000319978" "00006350" "50" "863" "0" "863" "0" "c.863G>A" "r.(?)" "p.(Arg288Gln)" "" "0000319979" "00006350" "50" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Ser333Asn)" "" "0000332753" "00006350" "50" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" "" "0000367211" "00006350" "11" "-91" "0" "-91" "0" "c.-91C>T" "r.(=)" "p.(=)" "1" "0000367212" "00006350" "11" "-91" "0" "-91" "0" "c.-91C>T" "r.(=)" "p.(=)" "1" "0000367213" "00006350" "73" "33" "0" "33" "0" "c.33C>G" "r.(?)" "p.(Ser11Arg)" "1" "0000367214" "00006350" "11" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(=)" "1" "0000367215" "00006350" "11" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(=)" "1" "0000367216" "00006350" "11" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(=)" "1" "0000367217" "00006350" "11" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(=)" "1" "0000367218" "00006350" "11" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(=)" "1" "0000367219" "00006350" "11" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(=)" "1" "0000367220" "00006350" "33" "229" "0" "229" "0" "c.229A>T" "r.(?)" "p.(Thr77Ser)" "1" "0000367221" "00006350" "99" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Gln103*)" "1" "0000367222" "00006350" "99" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Gln103*)" "1" "0000367223" "00006350" "13" "409" "0" "409" "0" "c.409G>C" "r.(?)" "p.(Glu137Gln)" "1" "0000367224" "00006350" "13" "618" "341" "618" "341" "c.618+341A>G" "r.(=)" "p.(=)" "1i" "0000367225" "00006350" "13" "618" "495" "618" "495" "c.618+495C>T" "r.(=)" "p.(=)" "1i" "0000367226" "00006350" "11" "618" "626" "618" "626" "c.618+626A>G" "r.(=)" "p.(=)" "1i" "0000367227" "00006350" "11" "618" "626" "618" "626" "c.618+626A>G" "r.(=)" "p.(=)" "1i" "0000367228" "00006350" "13" "618" "931" "618" "931" "c.618+931G>T" "r.(=)" "p.(=)" "1i" "0000367229" "00006350" "13" "618" "1022" "618" "1022" "c.618+1022G>A" "r.(=)" "p.(=)" "1i" "0000367230" "00006350" "33" "619" "-41" "619" "-41" "c.619-41G>A" "r.(=)" "p.(=)" "1i" "0000367231" "00006350" "99" "680" "0" "680" "0" "c.680dup" "r.(?)" "p.(Tyr228Leufs*37)" "2" "0000367232" "00006350" "99" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Pro246Hisfs*13)" "2" "0000367233" "00006350" "99" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Pro246Hisfs*13)" "2" "0000367234" "00006350" "99" "737" "0" "737" "0" "c.737del" "r.(?)" 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"p.(=)" "3i" "0000367246" "00006350" "11" "964" "-21" "964" "-21" "c.964-21A>G" "r.(?)" "p.(=)" "3i" "0000367247" "00006350" "11" "964" "-21" "964" "-21" "c.964-21A>G" "r.(?)" "p.(=)" "3i" "0000367248" "00006350" "33" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Trp)" "4" "0000367249" "00006350" "11" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(His364Arg)" "4" "0000367250" "00006350" "73" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Arg379Trp)" "4" "0000367251" "00006350" "73" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Arg379Trp)" "4" "0000367252" "00006350" "33" "1148" "0" "1148" "0" "c.1148C>A" "r.(?)" "p.(Thr383Asn)" "4" "0000367253" "00006350" "33" "1148" "0" "1148" "0" "c.1148C>A" "r.(?)" "p.(Thr383Asn)" "4" "0000367254" "00006350" "33" "1148" "0" "1148" "0" "c.1148C>G" "r.(?)" "p.(Thr383Ser)" "4" "0000367255" "00006350" "73" "1160" "0" "1160" "0" "c.1160C>G" "r.(?)" "p.(Ser387Trp)" "4" "0000367256" "00006350" "13" "1166" "18" "1166" "18" "c.1166+18G>A" "r.(?)" 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"p.(Ala440Thr)" "6" "0000367268" "00006350" "33" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(Asp447Asn)" "6" "0000367269" "00006350" "11" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(=)" "6" "0000367270" "00006350" "11" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(=)" "6" "0000367271" "00006350" "11" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(=)" "6" "0000367272" "00006350" "11" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(=)" "6" "0000367273" "00006350" "11" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(=)" "6" "0000367274" "00006350" "11" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(=)" "6" "0000367275" "00006350" "11" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(=)" "6" "0000367276" "00006350" "11" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(=)" "6" "0000367277" "00006350" "11" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(=)" "6" "0000367278" "00006350" "11" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" 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"p.(=)" "6i" "0000367290" "00006350" "13" "1417" "-72" "1417" "-72" "c.1417-72G>A" "r.(?)" "p.(=)" "6i" "0000367291" "00006350" "11" "1653" "0" "1653" "0" "c.1653C>T" "r.(?)" "p.(=)" "6" "0000367292" "00006350" "33" "1455" "0" "1455" "0" "c.1455G>A" "r.(?)" "p.(=)" "7" "0000367293" "00006350" "33" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(=)" "7" "0000367294" "00006350" "11" "1515" "0" "1515" "0" "c.1515G>A" "r.(?)" "p.(=)" "7" "0000367295" "00006350" "11" "1627" "-12" "1627" "-12" "c.1627-12G>A" "r.(?)" "p.(=)" "7i" "0000367296" "00006350" "11" "1627" "-12" "1627" "-12" "c.1627-12G>A" "r.(?)" "p.(=)" "7i" "0000367297" "00006350" "11" "1627" "-12" "1627" "-12" "c.1627-12G>A" "r.(?)" "p.(=)" "7i" "0000367298" "00006350" "11" "1627" "-12" "1627" "-12" "c.1627-12G>A" "r.(?)" "p.(=)" "7i" "0000367299" "00006350" "73" "1627" "-5" "1627" "-5" "c.1627-5T>A" "r.(?)" "p.(=)" "7i" "0000367300" "00006350" "11" "1684" "0" "1684" "0" "c.1684C>G" "r.(?)" "p.(Pro562Ala)" "8" "0000367301" "00006350" "11" "1684" "0" "1684" "0" "c.1684C>G" "r.(?)" "p.(Pro562Ala)" "8" "0000367302" "00006350" "11" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Met613Thr)" "9" "0000367303" "00006350" "11" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Met613Thr)" "9" "0000367304" "00006350" "11" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Met613Thr)" "9" "0000367305" "00006350" "11" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Met613Thr)" "9" "0000367306" "00006350" "11" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Met613Thr)" "9" "0000367307" "00006350" "11" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Met613Thr)" "9" "0000367308" "00006350" "11" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Met613Thr)" "9" "0000367309" "00006350" "11" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Met613Thr)" "9" "0000367310" "00006350" "11" "1838" "0" "1838" "0" "c.1838T>C" "r.(?)" "p.(Met613Thr)" "9" "0000367311" "00006350" "33" "1884" "0" "1884" "0" "c.1884C>A" "r.(?)" "p.(Ser628Arg)" "9" "0000367312" "00006350" "11" "1887" "0" "1887" "0" "c.1887G>A" "r.(?)" "p.(=)" "9" "0000367313" "00006350" "11" "1887" "0" "1887" "0" "c.1887G>A" "r.(?)" "p.(=)" "9" "0000367314" "00006350" "33" "1943" "0" "1943" "0" "c.1943C>A" "r.(?)" "p.(Ser648Tyr)" "9" "0000367315" "00006350" "13" "2118" "0" "2118" "0" "c.2118A>G" "r.(?)" "p.(=)" "9" "0000367316" "00006350" "13" "2118" "0" "2118" "0" "c.2118A>G" "r.(?)" "p.(=)" "9" "0000367317" "00006350" "33" "2169" "0" "2169" "0" "c.2169G>A" "r.(?)" "p.(Met723Ile)" "9" "0000367318" "00006350" "75" "2234" "0" "2234" "0" "c.2234G>A" "r.(?)" "p.(Arg745His)" "9" "0000367319" "00006350" "11" "2236" "84" "2236" "84" "c.2236+84G>T" "r.(?)" "p.(=)" "9i" "0000367320" "00006350" "11" "2237" "-44" "2237" "-44" "c.2237-44C>T" "r.(?)" "p.(=)" "9i" "0000367321" "00006350" "11" "2283" "0" "2283" "0" "c.2283C>T" "r.(?)" "p.(=)" "10" "0000367322" "00006350" "11" "2283" "0" "2283" "0" "c.2283C>T" "r.(?)" "p.(=)" "10" "0000367323" "00006350" "33" "2307" "0" "2307" "0" "c.2307C>T" "r.(?)" "p.(=)" "10" "0000367324" "00006350" "99" "2332" "0" "2332" "0" "c.2332C>T" "r.(?)" "p.(Arg778*)" "10" "0000367325" "00006350" "99" "2332" "0" "2332" "0" "c.2332C>T" "r.(?)" "p.(Arg778*)" "10" "0000367326" "00006350" "99" "2332" "0" "2332" "0" "c.2332C>T" "r.(?)" "p.(Arg778*)" "10" "0000367327" "00006350" "99" "2332" "0" "2332" "0" "c.2332C>T" "r.(?)" "p.(Arg778*)" "10" "0000367328" "00006350" "99" "2332" "0" "2332" "0" "c.2332C>T" "r.(?)" "p.(Arg778*)" "10" "0000367329" "00006350" "99" "2332" "0" "2332" "0" "c.2332C>T" "r.(?)" "p.(Arg778*)" "10" "0000367330" "00006350" "11" "2348" "0" "2348" "0" "c.2348T>C" "r.(?)" "p.(Val783Ala)" "10" "0000367331" "00006350" "11" "2348" "0" "2348" "0" "c.2348T>C" "r.(?)" "p.(Val783Ala)" "10" "0000367332" "00006350" "11" "2348" "0" "2348" "0" "c.2348T>C" "r.(?)" 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"p.(Asn796Lys)" "10" "0000367343" "00006350" "11" "2418" "142" "2418" "142" "c.2418+142A>G" "r.(=)" "p.(=)" "10i" "0000367344" "00006350" "11" "2418" "142" "2418" "142" "c.2418+142A>G" "r.(=)" "p.(=)" "10i" "0000367345" "00006350" "11" "2419" "-118" "2419" "-118" "c.2419-118G>A" "r.(=)" "p.(=)" "10i" "0000367346" "00006350" "33" "2419" "-16" "2419" "-16" "c.2419-16T>C" "r.(=)" "p.(=)" "10i" "0000367347" "00006350" "11" "2417" "0" "2417" "0" "c.2417C>A" "r.(?)" "p.(Pro806Gln)" "11" "0000367348" "00006350" "11" "2417" "0" "2417" "0" "c.2417C>A" "r.(?)" "p.(Pro806Gln)" "11" "0000367349" "00006350" "11" "2417" "0" "2417" "0" "c.2417C>A" "r.(?)" "p.(Pro806Gln)" "11" "0000367350" "00006350" "11" "2417" "0" "2417" "0" "c.2417C>A" "r.(?)" "p.(Pro806Gln)" "11" "0000367351" "00006350" "99" "2423" "0" "2423" "0" "c.2423del" "r.(?)" "p.(Gly808Aspfs*12)" "11" "0000367352" "00006350" "99" "2423" "0" "2423" "0" "c.2423del" "r.(?)" "p.(Gly808Aspfs*12)" "11" "0000367353" "00006350" "99" "2423" "0" "2423" "0" "c.2423del" "r.(?)" "p.(Gly808Aspfs*12)" "11" "0000367354" "00006350" "99" "2423" "0" "2423" "0" "c.2423del" "r.(?)" "p.(Gly808Aspfs*12)" "11" "0000367355" "00006350" "13" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Ala829Thr)" "11" "0000367356" "00006350" "13" "2541" "22" "2541" "22" "c.2541+22T>A" "r.(=)" "p.(=)" "11i" "0000367357" "00006350" "75" "2542" "0" "2542" "0" "c.2542A>G" "r.(?)" "p.(Arg848Gly)" "12" "0000367358" "00006350" "33" "2644" "0" "2644" "0" "c.2644C>A" "r.(?)" "p.(Arg882Ser)" "12" "0000408228" "00006350" "90" "355" "0" "355" "0" "c.(355del)" "r.(?)" "p.(Thr119Profs*23)" "1" "0000536057" "00006350" "50" "2644" "0" "2644" "0" "c.2644C>A" "r.(?)" "p.(Arg882Ser)" "" "0000536058" "00006350" "30" "2490" "0" "2490" "0" "c.2490C>T" "r.(?)" "p.(Ile830=)" "" "0000536059" "00006350" "10" "2439" "0" "2439" "0" "c.2439G>A" "r.(?)" "p.(Thr813=)" "" "0000536060" "00006350" "30" "2384" "0" "2384" "0" "c.2384G>A" "r.(?)" "p.(Arg795Gln)" "" "0000536061" "00006350" "30" "2354" "0" "2354" "0" "c.2354C>T" "r.(?)" "p.(Thr785Ile)" "" "0000536062" "00006350" "10" "2046" "0" "2046" "0" "c.2046G>C" "r.(?)" "p.(Arg682=)" "" "0000536063" "00006350" "50" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Arg663Lys)" "" "0000536064" "00006350" "50" "1943" "0" "1943" "0" "c.1943C>A" "r.(?)" "p.(Ser648Tyr)" "" "0000536065" "00006350" "30" "1716" "0" "1716" "0" "c.1716C>T" "r.(?)" "p.(Thr572=)" "" "0000536066" "00006350" "30" "1683" "0" "1683" "0" "c.1683C>T" "r.(?)" "p.(Leu561=)" "" "0000536067" "00006350" "50" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498His)" "" "0000536068" "00006350" "10" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Pro485Leu)" "" "0000536069" "00006350" "30" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Pro485Leu)" "" "0000536070" "00006350" "50" "1148" "0" "1148" "0" "c.1148C>A" "r.(?)" "p.(Thr383Asn)" "" "0000536071" "00006350" "50" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Arg379Trp)" "" "0000536072" "00006350" "50" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Trp)" "" "0000536073" "00006350" "30" "963" "6" "963" "7" "c.963+6_963+7dup" "r.(=)" "p.(=)" "" "0000536074" "00006350" "30" "933" "0" "933" "0" "c.933A>C" "r.(?)" "p.(Pro311=)" "" "0000536075" "00006350" "50" "878" "0" "878" "0" "c.878C>G" "r.(?)" "p.(Thr293Arg)" "" "0000536076" "00006350" "10" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Gly255Asp)" "" "0000536077" "00006350" "10" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" "" "0000536078" "00006350" "10" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Cys)" "" "0000536079" "00006350" "30" "660" "0" "660" "0" "c.660A>G" "r.(?)" "p.(Ser220=)" "" "0000536080" "00006350" "50" "409" "0" "409" "0" "c.409G>C" "r.(?)" "p.(Glu137Gln)" "" "0000536081" "00006350" "50" "344" "0" "344" "0" "c.344A>G" "r.(?)" "p.(Tyr115Cys)" "" "0000536082" "00006350" "50" "328" "0" "328" "0" "c.328A>G" "r.(?)" "p.(Thr110Ala)" "" "0000536083" "00006350" "50" "191" "0" "191" "0" "c.191C>A" "r.(?)" "p.(Ala64Asp)" "" "0000611822" "00006350" "30" "2322" "0" "2322" "0" "c.2322C>T" "r.(?)" "p.(Ser774=)" "" "0000611823" "00006350" "30" "2237" "-10" "2237" "-10" "c.2237-10C>G" "r.(=)" "p.(=)" "" "0000611824" "00006350" "30" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Gly134Glu)" "" "0000652578" "00006350" "50" "2510" "0" "2510" "0" "c.2510G>A" "r.(?)" "p.(Arg837His)" "" "0000652579" "00006350" "30" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Pro485Leu)" "" "0000652580" "00006350" "90" "1417" "-1" "1417" "-1" "c.1417-1G>A" "r.spl?" "p.?" "" "0000652581" "00006350" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423*)" "" "0000652582" "00006350" "30" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Arg379Trp)" "" "0000652583" "00006350" "50" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Trp)" "" "0000652584" "00006350" "50" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" "" "0000656203" "00006350" "30" "1900" "0" "1900" "0" "c.1900G>A" "r.(?)" "p.(Ala634Thr)" "" "0000656204" "00006350" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Arg450Cys)" "" "0000656205" "00006350" "30" "933" "0" "933" "0" "c.933A>C" "r.(?)" "p.(Pro311=)" "" "0000670034" "00006350" "50" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" "" "0000690376" "00006350" "30" "2611" "0" "2611" "0" "c.2611A>G" "r.(?)" "p.(Thr871Ala)" "" "0000690377" "00006350" "50" "2060" "0" "2060" "0" "c.2060C>T" "r.(?)" "p.(Pro687Leu)" "" "0000690378" "00006350" "50" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Arg350Gln)" "" "0000722217" "00006350" "50" "2390" "0" "2390" "0" "c.2390A>G" "r.(?)" "p.(Glu797Gly)" "" "0000722218" "00006350" "50" "1148" "0" "1148" "0" "c.1148C>A" "r.(?)" "p.(Thr383Asn)" "" "0000722219" "00006350" "30" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Val229Ile)" "" "0000722220" "00006350" "30" "627" "0" "627" "0" "c.627G>A" "r.(?)" "p.(Lys209=)" "" "0000722221" "00006350" "50" "376" "0" "378" "0" "c.376_378del" "r.(?)" "p.(Ala126del)" "" "0000722222" "00006350" "50" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Gly16Ser)" "" "0000736832" "00006350" "50" "376" "0" "378" "0" "c.376_378del" "r.(?)" "p.(Ala126del)" "" "0000760390" "00006350" "50" "1808" "0" "1808" "0" "c.1808G>T" "r.(?)" "p.(Gly603Val)" "" "0000760522" "00006350" "50" "1627" "-5" "1627" "-5" "c.1627-5T>A" "r.spl" "p.?" "" "0000784621" "00006350" "50" "2540" "0" "2540" "0" "c.2540A>G" "r.(?)" "p.(Gln847Arg)" "" "0000784622" "00006350" "50" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223His)" "" "0000785573" "00006350" "50" "1699" "-7" "1699" "-7" "c.1699-7A>G" "r.spl" "p.?" "" "0000792268" "00006350" "90" "1943" "0" "1943" "0" "c.1943C>A" "r.(?)" "p.(Ser648Tyr)" "8" "0000792269" "00006350" "90" "2644" "0" "2644" "0" "c.2644C>A" "r.(=)" "p.(=)" "11" "0000796162" "00006350" "90" "160" "0" "160" "0" "c.160C>T" "r.?" "p.?" "1" "0000798119" "00006350" "70" "1850" "0" "1850" "0" "c.1850C>T" "r.(?)" "p.(Ser617Leu)" "" "0000803836" "00006350" "50" "2665" "0" "2665" "0" "c.2665A>G" "r.(?)" "p.(Lys889Glu)" "" "0000803837" "00006350" "50" "2617" "0" "2617" "0" "c.2617C>T" "r.(?)" "p.(Arg873Trp)" "" "0000803838" "00006350" "50" "2510" "0" "2510" "0" "c.2510G>A" "r.(?)" "p.(Arg837His)" "" "0000803839" "00006350" "30" "1455" "0" "1455" "0" "c.1455G>A" "r.(?)" "p.(Pro485=)" "" "0000803840" "00006350" "50" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Arg379Trp)" "" "0000803841" "00006350" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Ile375=)" "" "0000803842" "00006350" "50" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Thr15Ile)" "" "0000815965" "00006350" "90" "195" "0" "195" "0" "c.195C>A" "r.(?)" "p.(Tyr65*)" "" "0000816316" "00006350" "90" "195" "0" "195" "0" "c.195C>A" "r.(?)" "p.(Tyr65*)" "" "0000817000" "00006350" "50" "619" "-1" "3398" "0" "c.(618+1_619-1)_(*674_?)dup" "r.(?)" "p.(?)" "" "0000818189" "00006350" "90" "409" "0" "409" "0" "c.409dupG" "r.(?)" "p.(Glu137Glyfs*42)" "1" "0000818198" "00006350" "90" "409" "0" "409" "0" "c.409dup" "r.(?)" "p.(Glu137Glyfs*42)" "1" "0000827570" "00006350" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423*)" "6" "0000852069" "00006350" "50" "2419" "0" "2419" "0" "c.2419C>G" "r.(?)" "p.(Pro807Ala)" "" "0000852070" "00006350" "30" "1455" "0" "1455" "0" "c.1455G>A" "r.(?)" "p.(Pro485=)" "" "0000852071" "00006350" "50" "571" "0" "571" "0" "c.571G>T" "r.(?)" "p.(Val191Phe)" "" "0000861354" "00006350" "30" "2250" "0" "2250" "0" "c.2250C>T" "r.(?)" "p.(Leu750=)" "" "0000861355" "00006350" "30" "1677" "0" "1677" "0" "c.1677C>T" "r.(?)" "p.(Asn559=)" "" "0000861356" "00006350" "50" "508" "0" "508" "0" "c.508C>G" "r.(?)" "p.(Leu170Val)" "" "0000861357" "00006350" "90" "344" "0" "344" "0" "c.344dup" "r.(?)" "p.(Tyr115*)" "" "0000861358" "00006350" "10" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Leu78=)" "" "0000861359" "00006350" "30" "75" "0" "75" "0" "c.75C>T" "r.(?)" "p.(Gly25=)" "" "0000870342" "00006350" "90" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Pro246Hisfs*13)" "2" "0000888577" "00006350" "50" "2644" "0" "2644" "0" "c.2644C>A" "r.(?)" "p.(Arg882Ser)" "" "0000888578" "00006350" "50" "1943" "0" "1943" "0" "c.1943C>A" "r.(?)" "p.(Ser648Tyr)" "" "0000888579" "00006350" "90" "455" "0" "455" "0" "c.455T>A" "r.(?)" "p.(Leu152*)" "" "0000909787" "00006350" "50" "1684" "0" "1684" "0" "c.1684C>G" "r.(?)" "p.(Pro562Ala)" "" "0000924948" "00006350" "30" "1695" "0" "1695" "0" "c.1695C>T" "r.(?)" "p.(Ser565=)" "" "0000924949" "00006350" "70" "619" "-1" "619" "-1" "c.619-1G>A" "r.spl?" "p.?" "" "0000944271" "00006350" "90" "2388" "0" "2389" "0" "c.2388_2389del" "r.(?)" "p.(Asn796LysfsTer46)" "" "0000958987" "00006350" "90" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Pro246HisfsTer13)" "" "0000959442" "00006350" "50" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.(Gly769Asp)" "" "0000965144" "00006350" "30" "1887" "0" "1887" "0" "c.1887G>A" "r.(?)" "p.(=)" "" "0001017842" "00006350" "30" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 180 "{{screeningid}}" "{{variantid}}" "0000059110" "0000089907" "0000164139" "0000367211" "0000164139" "0000367215" "0000164139" "0000367231" "0000164139" "0000367232" "0000164139" "0000367245" "0000164139" "0000367263" "0000164139" "0000367273" "0000164139" "0000367280" "0000164139" "0000367295" "0000164139" "0000367306" "0000164139" "0000367334" "0000164139" "0000367339" "0000164140" "0000367212" "0000164140" "0000367218" "0000164140" "0000367237" "0000164140" "0000367249" "0000164140" "0000367276" "0000164140" "0000367298" "0000164141" "0000367213" "0000164142" "0000367214" "0000164143" "0000367216" "0000164144" "0000367217" "0000164145" "0000367219" "0000164145" "0000367267" "0000164145" "0000367278" "0000164145" "0000367310" "0000164145" "0000367338" "0000164146" "0000367220" "0000164147" "0000367221" "0000164147" "0000367240" "0000164148" "0000367222" "0000164148" "0000367241" "0000164149" "0000367223" "0000164149" "0000367239" "0000164150" "0000367224" "0000164151" "0000367225" "0000164152" "0000367226" "0000164153" "0000367227" "0000164154" "0000367228" "0000164154" "0000367315" "0000164155" "0000367229" "0000164156" "0000367230" "0000164157" "0000367233" "0000164158" "0000367234" "0000164159" "0000367235" "0000164160" "0000367236" "0000164161" "0000367238" "0000164162" "0000367242" "0000164163" "0000367243" "0000164164" "0000367244" "0000164165" "0000367246" "0000164166" "0000367247" "0000164167" "0000367248" "0000164168" "0000367250" "0000164169" "0000367251" "0000164170" "0000367252" "0000164171" "0000367253" "0000164172" "0000367254" "0000164173" "0000367255" "0000164174" "0000367256" "0000164175" "0000367257" "0000164176" "0000367258" "0000164177" "0000367259" "0000164178" "0000367260" "0000164179" "0000367261" "0000164180" "0000367262" "0000164180" "0000367357" "0000164181" "0000367264" "0000164182" "0000367265" "0000164183" "0000367266" "0000164183" "0000367309" "0000164183" "0000367337" "0000164183" "0000367342" "0000164184" "0000367268" "0000164185" "0000367269" "0000164185" "0000367302" "0000164185" "0000367330" "0000164185" "0000367347" "0000164185" "0000367351" "0000164186" "0000367270" "0000164186" "0000367303" "0000164186" "0000367331" "0000164186" "0000367348" "0000164186" "0000367352" "0000164187" "0000367271" "0000164187" "0000367304" "0000164187" "0000367332" "0000164187" "0000367349" "0000164187" "0000367353" "0000164188" "0000367272" "0000164188" "0000367305" "0000164188" "0000367333" "0000164188" "0000367350" "0000164188" "0000367354" "0000164189" "0000367274" "0000164190" "0000367275" "0000164191" "0000367277" "0000164192" "0000367279" "0000164193" "0000367281" "0000164194" "0000367282" "0000164195" "0000367283" "0000164195" "0000367284" "0000164196" "0000367285" "0000164197" "0000367286" "0000164198" "0000367287" "0000164199" "0000367288" "0000164200" "0000367289" "0000164201" "0000367290" "0000164202" "0000367291" "0000164203" "0000367292" "0000164204" "0000367293" "0000164205" "0000367294" "0000164206" "0000367296" "0000164207" "0000367297" "0000164208" "0000367299" "0000164209" "0000367300" "0000164210" "0000367301" "0000164211" "0000367307" "0000164212" "0000367308" "0000164213" "0000367311" "0000164214" "0000367312" "0000164215" "0000367313" "0000164216" "0000367314" "0000164217" "0000367316" "0000164218" "0000367317" "0000164219" "0000367318" "0000164220" "0000367319" "0000164221" "0000367320" "0000164222" "0000367321" "0000164223" "0000367322" "0000164224" "0000367323" "0000164225" "0000367324" "0000164226" "0000367325" "0000164227" "0000367326" "0000164228" "0000367327" "0000164229" "0000367328" "0000164230" "0000367329" "0000164231" "0000367335" "0000164232" "0000367336" "0000164233" "0000367340" "0000164234" "0000367341" "0000164235" "0000367343" "0000164236" "0000367344" "0000164237" "0000367345" "0000164238" "0000367346" "0000164239" "0000367355" "0000164240" "0000367356" "0000164241" "0000367358" "0000184220" "0000408228" "0000295889" "0000652578" "0000295890" "0000652579" "0000295891" "0000652580" "0000295892" "0000652581" "0000295893" "0000652582" "0000295894" "0000652583" "0000295895" "0000652584" "0000306346" "0000670034" "0000337202" "0000736832" "0000360498" "0000760390" "0000360498" "0000760522" "0000373866" "0000784621" "0000373866" "0000784622" "0000374742" "0000785573" "0000379161" "0000792268" "0000379161" "0000792269" "0000382377" "0000796162" "0000383839" "0000798119" "0000387807" "0000815965" "0000387807" "0000816316" "0000388428" "0000817000" "0000389270" "0000818189" "0000389270" "0000818198" "0000396008" "0000827570" "0000396009" "0000827570" "0000412931" "0000870342" "0000429737" "0000909787" "0000442944" "0000944271" "0000449220" "0000958987" "0000449220" "0000959442"