### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OTOF) # 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}}" "OTOF" "otoferlin" "2" "p23.1" "unknown" "NG_009937.1" "UD_132084502530" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "https://www.LOVD.nl/OTOF" "Deafness Gene Mutation Database \r\nDeafness Variation Database \r\nMoBiDiC " "1" "8515" "9381" "603681" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the OTOF database using: www.LOVD.nl/OTOF
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" "http://databases.lovd.nl/shared/refseq/OTOF_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2012-04-05 00:00:00" "00110" "2018-07-20 14:46:17" "00006" "2025-05-17 09:22:05" ## 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}}" "00024110" "OTOF" "transcript variant 1" "001" "NM_194248.2" "" "NP_919224.1" "" "" "" "-127" "7029" "5994" "26781566" "26680071" "00006" "2016-03-18 14:10:49" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "02338" "DFNB9;AUNB1" "deafness, autosomal recessive, type 9" "AR" "601071" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-05-15 09:57:37" "02355" "DFNA9" "deafness, autosomal dominant, type 9 (DFNA-9)" "AD" "601369" "" "" "" "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" "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" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "OTOF" "02338" "OTOF" "05400" "OTOF" "05458" ## Individuals ## Do not remove or alter this header ## ## Count = 248 "{{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}}" "00059051" "" "" "" "3" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "yes" "Israel" "" "0" "" "" "Syria;Jewish" "" "00059176" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00155227" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Punjab" "29311637-Fam1" "00163377" "" "" "" "1" "" "02416" "{PMID:Zadro 2010:20211493}" "" "" "" "Italy" "" "0" "" "" "" "" "00163378" "" "" "" "1" "" "02416" "{PMID:Yasunaga 2000:10903124}" "proband" "F" "" "India" "" "0" "" "" "" "" "00163379" "" "" "" "1" "" "02416" "{PMID:Yasunaga 2000:10903124}" "proband" "M" "" "India" "" "0" "" "" "" "" "00163380" "" "" "" "1" "" "02416" "{PMID:Yasunaga 2000:10903124}" "proband" "F" "" "India" "" "0" "" "" "" "" "00163381" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Italy" "" "0" "" "" "" "" "00163382" "" "" "" "1" "" "02416" "{PMID:Choi 2008:19250381}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00163383" "" "" "" "1" "" "02416" "{PMID:Zadro 2010:20211493}" "" "" "" "Italy" "" "0" "" "" "" "" "00163384" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "F" "" "Japan" "" "0" "" "" "" "" "00163385" "" "" "" "1" "" "02416" "{PMID:Choi 2008:19250381}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00163386" "" "" "" "1" "" "02416" "{PMID:Choi 2008:19250381}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00163387" "" "" "" "1" "" "02416" "{PMID:Wang 2011:21935370}" "no genotype in the publication" "" "" "China" "" "0" "" "" "" "" "00163388" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163389" "" "" "" "1" "" "02416" "{PMID:Wang 2010:20504331}" "proband" "" "" "China" "" "0" "" "" "" "" "00163390" "" "" "" "1" "" "02416" "{PMID:Wang 2011:21935370}" "no genotype in the publication" "" "" "China" "" "0" "" "" "" "" "00163391" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163392" "" "" "" "1" "" "02416" "{PMID:Choi 2008:19250381}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00163393" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163394" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "F" "" "United States" "" "0" "" "" "" "" "00163395" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163396" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "proband" "F" "" "France" "" "0" "" "" "" "" "00163397" "" "" "" "1" "" "02416" "{PMID:Choi 2008:19250381}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00163398" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "M" "" "Japan" "" "0" "" "" "" "" "00163399" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163400" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163401" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "F" "" "United States" "" "0" "" "" "" "" "00163402" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "M" "" "United States" "" "0" "" "" "" "" "00163403" "" "" "" "1" "" "02416" "{PMID:Romanos 2009:19461658}" "proband" "" "" "Brazil" "" "0" "" "" "" "" "00163404" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Argentina" "" "0" "" "" "" "" "00163405" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Austria" "" "0" "" "" "" "" "00163406" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "M" "" "Japan" "" "0" "" "" "" "" "00163407" "" "" "" "1" "" "02416" "{PMID:Wang 2010:20504331}" "proband" "" "" "China" "" "0" "" "" "" "" "00163408" "" "" "" "1" "" "02416" "{PMID:Wang 2010:20504331}" "proband" "" "" "China" "" "0" "" "" "" "" "00163409" "" "" "" "1" "" "02416" "{PMID:Romanos 2009:19461658}" "proband" "" "" "Brazil" "" "0" "" "" "" "" "00163410" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "M" "" "United States" "" "0" "" "" "" "" "00163411" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "M" "" "Japan" "" "0" "" "" "" "" "00163412" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "proband" "F" "" "" "" "0" "" "" "" "" "00163413" "" "" "" "1" "" "02416" "{PMID:Mahdieh 2012:22906306}" "" "" "" "Iran" "" "0" "" "" "" "" "00163414" "" "" "" "1" "" "02416" "{PMID:Zadro 2010:20211493}" "" "" "" "Italy" "" "0" "" "" "" "" "00163415" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "M" "" "United States" "" "0" "" "" "" "" "00163416" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "F" "" "United States" "" "0" "" "" "" "" "00163417" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Colombia" "" "0" "" "" "" "" "00163418" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163419" "" "" "" "1" "" "02416" "{PMID:Wang 2011:21935370}" "no genotype in the publication" "" "" "China" "" "0" "" "" "" "" "00163420" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163421" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163422" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "M" "" "France" "" "0" "" "" "" "S1529" "00163423" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Libya" "" "0" "" "" "" "" "00163424" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "M" "" "France" "" "0" "" "" "" "S1777" "00163425" "" "" "" "1" "" "02416" "{PMID:Choi 2008:19250381}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00163426" "" "" "" "1" "" "02416" "{PMID:De Keulenaer 2012:22607986}" "proband" "" "" "Belgium" "" "0" "" "" "" "" "00163427" "" "" "" "1" "" "02416" "{PMID:Romanos 2009:19461658}" "proband" "" "" "Brazil" "" "0" "" "" "" "" "00163428" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163429" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "F" "" "France" "" "0" "" "" "" "S1672" "00163430" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "M" "" "United States" "" "0" "" "" "" "" "00163431" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "F" "" "United States" "" "0" "" "" "" "" "00163432" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "F" "" "United States" "" "0" "" "" "" "" "00163433" "" "" "" "1" "" "02416" "{PMID:Rouillon 2006:16226319}" "proband" "" "" "France" "" "0" "" "" "" "" "00163434" "" "" "" "1" "" "02416" "{PMID:Rouillon 2006:16226319}" "proband" "" "" "France" "" "0" "" "" "" "" "00163435" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163436" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163437" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163438" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163439" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163440" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163441" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163442" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163443" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163444" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163445" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163446" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163447" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163448" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163449" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163450" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163451" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163452" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163453" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163454" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Spain" "" "0" "" "" "" "" "00163455" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Colombia" "" "0" "" "" "" "" "00163456" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Argentina" "" "0" "" "" "" "" "00163457" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Argentina" "" "0" "" "" "" "" "00163458" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Argentina" "" "0" "" "" "" "" "00163459" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Germany" "" "0" "" "" "" "" "00163460" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "M" "" "United States" "" "0" "" "" "" "" "00163461" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "M" "" "United States" "" "0" "" "" "" "" "00163462" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "M" "" "United States" "" "0" "" "" "" "" "00163463" "" "" "" "1" "" "02416" "{PMID:Varga 2005:16371502}" "proband" "M" "" "United States" "" "0" "" "" "" "" "00163464" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Italy" "" "0" "" "" "" "" "00163465" "" "" "" "1" "" "02416" "{PMID:Romanos 2009:19461658}" "proband" "" "" "Brazil" "" "0" "" "" "" "" "00163466" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Argentina" "" "0" "" "" "" "" "00163467" "" "" "" "1" "" "02416" "{PMID:Wang 2010:20504331}" "proband" "" "" "China" "" "0" "" "" "" "" "00163468" "" "" "" "1" "" "02416" "{PMID:De Keulenaer 2012:22607986}" "proband" "" "" "Belgium" "" "0" "" "" "" "" "00163469" "" "" "" "1" "" "02416" "{PMID:Choi 2008:19250381}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00163470" "" "" "" "1" "" "02416" "{PMID:Romanos 2009:19461658}" "proband" "" "" "Brazil" "" "0" "" "" "" "" "00163471" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Germany" "" "0" "" "" "" "" "00163472" "" "" "" "1" "" "02416" "{PMID:Wang 2011:21935370}" "no genotype in the publication" "" "" "China" "" "0" "" "" "" "" "00163473" "" "" "" "1" "" "02416" "{PMID:Wang 2011:21935370}" "no genotype in the publication" "" "" "China" "" "0" "" "" "" "" "00163474" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163475" "" "" "" "1" "" "02416" "{PMID:Shahin 2009:19888295}" "proband" "M" "" "Palestine" "" "0" "" "" "" "" "00163476" "" "" "" "1" "" "02416" "{PMID:Shahin 2009:19888295}" "proband" "F" "" "Palestine" "" "0" "" "" "" "" "00163477" "" "" "" "1" "" "02416" "{PMIDShahin :Shahin 2009}" "proband" "F" "" "Palestine" "" "0" "" "" "" "" "00163478" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "proband" "" "" "China" "" "0" "" "" "" "" "00163479" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Argentina" "" "0" "" "" "" "" "00163480" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Lebanon" "" "0" "" "" "" "" "00163481" "" "" "" "1" "" "02416" "{PMID:Zhang 2013:24001616}" "" "M" "" "China" "" "0" "" "" "" "" "00163482" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163483" "" "" "" "1" "" "02416" "{PMID:Romanos 2009:19461658}" "proband" "" "" "Brazil" "" "0" "" "" "" "" "00163484" "" "" "" "1" "" "02416" "{PMID:Choi 2008:19250381}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00163485" "" "" "" "1" "" "02416" "{PMID:Wang 2011:21935370}" "no genotype in the publication" "" "" "China" "" "0" "" "" "" "" "00163486" "" "" "" "1" "" "02416" "{PMID:Choi 2008:19250381}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00163487" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163488" "" "" "" "1" "" "02416" "{PMID:Rodriguez-Ballesteros 2008:18381613}" "proband" "" "" "Italy" "" "0" "" "" "" "" "00163489" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163490" "" "" "" "1" "" "02416" "{PMID:Romanos 2009:19461658}" "proband" "" "" "Brazil" "" "0" "" "" "" "" "00163491" "" "" "" "1" "" "02416" "{PMID:Rodríguez-Ballesteros 2003:14635104}" "profound" "" "" "Italy" "" "0" "" "" "" "" "00163492" "" "" "" "1" "" "02416" "{PMID:Romanos 2009:19461658}" "proband" "" "" "Brazil" "" "0" "" "" "" "" "00163493" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "F" "" "Japan" "" "0" "" "" "" "" "00163494" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "F" "" "Japan" "" "0" "" "" "" "" "00163495" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163496" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163497" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163498" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163499" "" "" "" "1" "" "02416" "{PMID:Iwasa 2013:24053799}" "" "" "" "Japan" "" "0" "" "" "" "" "00163500" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "F" "" "Japan" "" "0" "" "" "" "" "00163501" "" "" "" "1" "" "02416" "{PMID:Choi 2008:19250381}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00163502" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "F" "" "Japan" "" "0" "" "" "" "" "00163503" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "F" "" "Japan" "" "0" "" "" "" "" "00163504" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "M" "" "Japan" "" "0" "" "" "" "" "00163505" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "M" "" "Japan" "" "0" "" "" "" "" "00163506" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "M" "" "Japan" "" "0" "" "" "" "" "00163507" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "M" "" "Japan" "" "0" "" "" "" "" "00163508" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "F" "" "Japan" "" "0" "" "" "" "" "00163509" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "M" "" "Japan" "" "0" "" "" "" "" "00163510" "" "" "" "1" "" "02416" "{PMID:Matsunaga 2012:22575033}" "" "M" "" "Japan" "" "0" "" "" "" "" "00181179" "" "" "" "1" "" "02552" "" "" "F" "no" "Switzerland" "" "0" "" "" "ancestors from Switzerland and Slovenia" "71412" "00249660" "" "" "" "1" "" "03386" "" "" "" "no" "" "" "0" "" "" "" "" "00249661" "" "" "" "3" "" "03386" "" "" "" "" "" "" "0" "" "" "" "" "00249662" "" "" "" "3" "" "03386" "" "" "" "yes" "Mali" "" "0" "" "" "" "" "00249722" "" "" "" "1" "" "03386" "" "" "M" "no" "France" "" "0" "" "" "" "" "00249723" "" "" "" "1" "" "03386" "" "" "M" "no" "(France)" "" "0" "" "" "" "" "00292681" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292682" "" "" "" "92" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292683" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292684" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292685" "" "" "" "39" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292686" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292687" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292688" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292689" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292690" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292691" "" "" "" "77" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292692" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292693" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292694" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292695" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292696" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292697" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292698" "" "" "" "44" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295815" "" "" "" "1" "" "03607" "" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "Asian" "SH195-443" "00295957" "" "" "" "1" "" "03607" "" "" "M" "?" "Korea, South (Republic)" "00y06m" "0" "" "" "Asian" "SH308-694" "00303507" "" "" "" "2" "" "03386" "" "sibling of 2 AUNB1" "F" "no" "France" "" "" "" "" "" "" "00303509" "" "" "" "1" "" "03386" "" "" "F" "no" "France" "" "" "" "" "" "" "00303510" "" "" "" "1" "" "03386" "" "" "M" "no" "France" "" "" "" "" "" "" "00303513" "" "" "" "1" "" "03386" "" "" "F" "no" "France" "" "" "" "" "" "" "00303514" "" "" "" "1" "" "03386" "" "" "F" "?" "" "" "" "" "" "African" "" "00303515" "" "" "" "1" "" "03386" "" "" "M" "?" "" "" "" "" "" "African" "" "00304812" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304813" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304814" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308689" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00327035" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB422-823" "00327065" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB239-463" "00327066" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB239-466" "00327547" "" "" "" "5" "" "00006" "{PMID:Beck 2014:25044745}" "2-generation family, 5 affected (2F, 3M)" "F;M" "yes" "Iraq" "" "0" "" "" "" "family" "00380702" "" "" "" "2" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "no" "Brazil" "" "" "" "" "" "O1" "00380703" "" "" "00380702" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "M" "no" "Brazil" "" "" "" "" "" "" "00380704" "" "" "" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "no" "Brazil" "" "" "" "" "" "O2" "00397399" "" "" "" "3" "" "00006" "{PMID:Choi 2013:23990876}" "family, 3 affected" "" "" "Korea" "" "0" "" "" "" "SB04-11" "00411548" "" "" "00411549" "1" "" "02416" "Vaché submitted" "daughter of SU332, mother of SU340" "F" "no" "France" "" "0" "" "" "Sicilia" "SU333" "00411551" "" "" "00411549" "1" "" "02416" "Vaché submitted" "daughter of SU332, mother of SU7517" "F" "no" "France" "" "0" "" "" "Sicilia" "SU334" "00411552" "" "" "00411549" "1" "" "02416" "Vaché submitted" "daughter of SU334" "F" "no" "France" "" "0" "" "" "Sicilia" "SU7517" "00415245" "" "" "" "1" "" "00006" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Belgium" "25m" "0" "" "" "" "Fam4Pat5" "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" "00428415" "" "" "" "3" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 2 affected sisters (2F), unaffected heterozygous carrier mother" "F" "no" "Ghana" "" "0" "" "" "Africa" "Fam32" "00428417" "" "" "" "4" "" "04147" "{PMID:Wonkam 2022:35440622}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier relatives" "M" "no" "Ghana" "" "0" "" "" "Africa" "Fam36" "00441105" "" "" "" "8" "" "00006" "{PMID:Ammar-Khodja 2015:26029705}" "3-generation family, 8 affected (8M), unaffected heterozygous parents/relatives" "M" "yes" "Algeria" "" "0" "" "" "" "Fam1" "00441106" "" "" "" "4" "" "00006" "{PMID:Ammar-Khodja 2015:26029705}" "5-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Algeria" "" "0" "" "" "" "Fam2" "00441122" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamM19411" "00441333" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4362" "00441334" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4366" "00441335" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1723" "00441336" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1535" "00441337" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4078" "00441338" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4512" "00441339" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4548" "00441340" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4756" "00441341" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1336" "00441342" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1450" "00441343" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1066a" "00441637" "" "" "" "4" "" "00006" "{PMID:Naz 2017:27573290}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-09" "00441638" "" "" "" "3" "" "00006" "{PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLGM14" "00441639" "" "" "" "4" "" "00006" "{PMID:Naz 2017:27573290}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-01" "00448502" "" "" "" "1" "" "04656" "" "" "M" "yes" "Pakistan" "" "" "" "" "" "" "00465394" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE1117" "00465395" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE1765" "00465396" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE1780" "00465397" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE1801" "00465398" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE2401" "00465399" "" "" "" "1" "" "00006" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "M" "" "Taiwan" "" "0" "" "" "" "DE3745" "00465400" "" "" "" "1" "" "00006" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "F" "" "Taiwan" "" "0" "" "" "" "DE4496" "00465401" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE4856" "00465402" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE7573" "00465403" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE7942" "00465404" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "A0826" "00465405" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "A2421" "00465406" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE2515" "00465407" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE2575" "00465408" "" "" "" "1" "" "00006" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "M" "" "Taiwan" "" "0" "" "" "" "DE3152" "00465409" "" "" "" "1" "" "00006" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "M" "" "Taiwan" "" "0" "" "" "" "DE3247" "00465410" "" "" "" "1" "" "00006" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "F" "" "Taiwan" "" "0" "" "" "" "DE3249" "00465411" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE3532" "00465412" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE4417" "00465413" "" "" "" "1" "" "00006" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "M" "" "Taiwan" "" "0" "" "" "" "DE4618" "00465414" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE4732" "00465415" "" "" "" "1" "" "00006" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "F" "" "Taiwan" "" "0" "" "" "" "DE4733" "00465416" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE4777" "00465417" "" "" "" "1" "" "00006" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "M" "" "Taiwan" "" "0" "" "" "" "DE4886" "00465418" "" "" "" "1" "" "00006" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "M" "" "Taiwan" "" "0" "" "" "" "DE4943" "00465419" "" "" "" "1" "" "00006" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "M" "" "Taiwan" "" "0" "" "" "" "DE5486" "00465420" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE5604" "00465421" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE6680" "00465422" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE6695" "00465423" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "A1387" "00465424" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "A2693" "00465425" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "A2776" "00465426" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "A3436" "00465427" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE4636" "00465428" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE5555" "00465429" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE6002" "00465430" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "DE6441" "00465431" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "analysis 65 cases" "" "" "Taiwan" "" "0" "" "" "" "A1053" "00465432" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "newborn screening (no deafness)" "" "" "Taiwan" "" "0" "" "" "" "A0787" "00465433" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "newborn screening (no deafness)" "" "" "Taiwan" "" "0" "" "" "" "A1385" "00465434" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "newborn screening (no deafness)" "" "" "Taiwan" "" "0" "" "" "" "A1652" "00465435" "" "" "" "1" "" "00006" "{PMID:Lin 2025:40346465}" "newborn screening (no deafness)" "" "" "Taiwan" "" "0" "" "" "" "A2376" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 248 "{{individualid}}" "{{diseaseid}}" "00059051" "02338" "00059176" "00531" "00155227" "00259" "00163377" "05103" "00163378" "05400" "00163379" "05400" "00163380" "05400" "00163381" "05103" "00163382" "05400" "00163383" "05103" "00163384" "05103" "00163385" "05400" "00163386" "05400" "00163387" "05400" "00163388" "05103" "00163389" "05400" "00163390" "05400" "00163391" "05400" "00163392" "05400" "00163393" "05103" "00163394" "05103" "00163395" "05400" "00163396" "05103" "00163397" "05400" "00163398" "05103" "00163399" "05103" "00163400" "05103" "00163401" "05103" "00163402" "05103" "00163403" "05103" "00163404" "05103" "00163405" "05103" "00163406" "05103" "00163407" "05400" "00163408" "05103" "00163409" "05103" "00163410" "05103" "00163411" "05103" "00163412" "05103" "00163413" "05400" "00163414" "05103" "00163415" "05103" "00163416" "05103" "00163417" "05103" "00163418" "05400" "00163419" "05400" "00163420" "05400" "00163421" "05400" "00163422" "05400" "00163423" "05103" "00163424" "05400" "00163425" "05400" "00163426" "05400" "00163427" "05103" "00163428" "05103" "00163429" "05400" "00163430" "05103" "00163431" "05103" "00163432" "05103" "00163433" "05400" "00163434" "05400" "00163435" "05103" "00163436" "05103" "00163437" "05103" "00163438" "05103" "00163439" "05103" "00163440" "05103" "00163441" "05103" "00163442" "05103" "00163443" "05103" "00163444" "05103" "00163445" "05103" "00163446" "05103" "00163447" "05103" "00163448" "05103" "00163449" "05103" "00163450" "05103" "00163451" "05103" "00163452" "05103" "00163453" "05103" "00163454" "05103" "00163455" "05103" "00163456" "05103" "00163457" "05103" "00163458" "05103" "00163459" "05103" "00163460" "05103" "00163461" "05103" "00163462" "05103" "00163463" "05103" "00163464" "05103" "00163465" "05103" "00163466" "05103" "00163467" "05400" "00163468" "05103" "00163469" "05400" "00163470" "05103" "00163471" "05103" "00163472" "05400" "00163473" "05400" "00163474" "05400" "00163475" "05400" "00163476" "05400" "00163477" "00198" "00163478" "05400" "00163479" "05103" "00163480" "05103" "00163481" "05103" "00163482" "05400" "00163483" "05103" "00163484" "05400" "00163485" "05400" "00163486" "05400" "00163487" "05400" "00163488" "05103" "00163489" "05400" "00163490" "05103" "00163491" "05103" "00163492" "05103" "00163493" "05103" "00163494" "05103" "00163495" "05103" "00163496" "05103" "00163497" "05103" "00163498" "05103" "00163499" "05103" "00163500" "05103" "00163501" "05400" "00163502" "05103" "00163503" "05103" "00163504" "05103" "00163505" "05103" "00163506" "05103" "00163507" "05103" "00163508" "05103" "00163509" "05103" "00163510" "05103" "00181179" "00344" "00249660" "02338" "00249661" "02338" "00249662" "02338" "00249722" "02338" "00249723" "02338" "00292681" "00198" "00292682" "00198" "00292683" "00198" "00292684" "00198" "00292685" "00198" "00292686" "00198" "00292687" "00198" "00292688" "00198" "00292689" "00198" "00292690" "00198" "00292691" "00198" "00292692" "00198" "00292693" "00198" "00292694" "00198" "00292695" "00198" "00292696" "00198" "00292697" "00198" "00292698" "00198" "00295815" "05103" "00295957" "05103" "00303507" "02338" "00303509" "02338" "00303510" "02338" "00303513" "02338" "00303514" "02338" "00303515" "02338" "00304812" "00198" "00304813" "00198" "00304814" "00198" "00308689" "00000" "00327035" "05086" "00327065" "05086" "00327066" "05086" "00327547" "04214" "00380702" "05086" "00380703" "05086" "00380704" "05086" "00397399" "05086" "00411548" "06877" "00411551" "06877" "00411552" "06877" "00415245" "05611" "00428324" "02908" "00428415" "02338" "00428417" "02355" "00441105" "05086" "00441106" "05086" "00441122" "05086" "00441333" "05086" "00441334" "05086" "00441335" "05086" "00441336" "05086" "00441337" "05086" "00441338" "05086" "00441339" "05086" "00441340" "05086" "00441341" "05086" "00441342" "05086" "00441343" "05086" "00441637" "05086" "00441638" "05086" "00441639" "05086" "00448502" "02338" "00465394" "05400" "00465395" "05400" "00465396" "05400" "00465397" "05400" "00465398" "05400" "00465399" "05400" "00465400" "05400" "00465401" "05400" "00465402" "05400" "00465403" "05400" "00465404" "05400" "00465405" "05400" "00465406" "05400" "00465407" "05400" "00465408" "05400" "00465409" "05400" "00465410" "05400" "00465411" "05400" "00465412" "05400" "00465413" "05400" "00465414" "05400" "00465415" "05400" "00465416" "05400" "00465417" "05400" "00465418" "05400" "00465419" "05400" "00465420" "05400" "00465421" "05400" "00465422" "05400" "00465423" "05400" "00465424" "05400" "00465425" "05400" "00465426" "05400" "00465427" "05400" "00465428" "05400" "00465429" "05400" "00465430" "05400" "00465431" "05400" "00465432" "00000" "00465433" "00000" "00465434" "00000" "00465435" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00259, 00344, 00531, 02338, 02355, 02908, 04214, 05086, 05103, 05400, 05458, 05611, 06877 ## Count = 215 "{{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}}" "0000045641" "02338" "00059051" "01542" "Familial, autosomal recessive" "" "congenital, profound HL, auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000046732" "00531" "00059176" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127755" "00259" "00155227" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity (BMI score ≥3)" "" "" "" "" "" "" "" "" "" "obesity" "" "0000128514" "05103" "00163377" "02416" "Familial, autosomal recessive" "" "profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128515" "05400" "00163378" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128516" "05400" "00163379" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128517" "05400" "00163380" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128518" "05103" "00163381" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128519" "05400" "00163382" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128520" "05103" "00163383" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128521" "05103" "00163384" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128522" "05400" "00163385" "02416" "Familial, autosomal recessive" "" "severe-profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128523" "05400" "00163386" "02416" "Familial, autosomal recessive" "" "severe-profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128524" "05400" "00163387" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128525" "05103" "00163388" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128526" "05400" "00163389" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128527" "05400" "00163390" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128528" "05400" "00163391" "02416" "Familial, autosomal recessive" "" "hearing loss level:profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128529" "05400" "00163392" "02416" "Familial, autosomal recessive" "" "severe-profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128530" "05103" "00163393" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128531" "05103" "00163394" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000128532" "05400" "00163395" "02416" "Familial, autosomal recessive" "" "hearing loss level: severe" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128533" "05103" "00163396" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic (DFN)" "" "0000128534" "05400" "00163397" "02416" "Familial, autosomal recessive" "" "severe-profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128535" "05103" "00163398" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128536" "05103" "00163399" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128537" "05103" "00163400" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128538" "05103" "00163401" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128539" "05103" "00163402" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128540" "05103" "00163403" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128541" "05103" "00163404" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128542" "05103" "00163405" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128543" "05103" "00163406" "02416" "Familial, autosomal recessive" "" "26y-degree of hearing loss: mild,non progressive" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128544" "05400" "00163407" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128545" "05103" "00163408" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000128546" "05103" "00163409" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128547" "05103" "00163410" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128548" "05103" "00163411" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: unstable" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128549" "05103" "00163412" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic (DFN)" "" "0000128550" "05400" "00163413" "02416" "Familial, autosomal recessive" "" "profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128551" "05103" "00163414" "02416" "Familial, autosomal recessive" "" "mild to profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128552" "05103" "00163415" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128553" "05103" "00163416" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128554" "05103" "00163417" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000128555" "05400" "00163418" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128556" "05400" "00163419" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128557" "05400" "00163420" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128558" "05400" "00163421" "02416" "Familial, autosomal recessive" "" "hearing loss level: severe" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128559" "05400" "00163422" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128560" "05103" "00163423" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128561" "05400" "00163424" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128562" "05400" "00163425" "02416" "Familial, autosomal recessive" "" "severe-profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128563" "05400" "00163426" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128564" "05103" "00163427" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128565" "05103" "00163428" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128566" "05400" "00163429" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128567" "05103" "00163430" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128568" "05103" "00163431" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128569" "05103" "00163432" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128570" "05400" "00163433" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128571" "05400" "00163434" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128572" "05103" "00163435" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128573" "05103" "00163436" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128574" "05103" "00163437" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128575" "05103" "00163438" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128576" "05103" "00163439" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128577" "05103" "00163440" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128578" "05103" "00163441" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128579" "05103" "00163442" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128580" "05103" "00163443" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128581" "05103" "00163444" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128582" "05103" "00163445" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128583" "05103" "00163446" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128584" "05103" "00163447" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128585" "05103" "00163448" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128586" "05103" "00163449" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128587" "05103" "00163450" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128588" "05103" "00163451" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128589" "05103" "00163452" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128590" "05103" "00163453" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128591" "05103" "00163454" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128592" "05103" "00163455" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128593" "05103" "00163456" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128594" "05103" "00163457" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128595" "05103" "00163458" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128596" "05103" "00163459" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128597" "05103" "00163460" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128598" "05103" "00163461" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128599" "05103" "00163462" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128600" "05103" "00163463" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128601" "05103" "00163464" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128602" "05103" "00163465" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss (NHSL)" "" "0000128603" "05103" "00163466" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128604" "05400" "00163467" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128605" "05103" "00163468" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss (NHSL)" "" "0000128606" "05400" "00163469" "02416" "Familial, autosomal recessive" "" "severe-profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128607" "05103" "00163470" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128608" "05103" "00163471" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128609" "05400" "00163472" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128610" "05400" "00163473" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128611" "05400" "00163474" "02416" "Familial, autosomal recessive" "" "hearing loss level" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128612" "05400" "00163475" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128613" "05400" "00163476" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128614" "00198" "00163477" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128615" "05400" "00163478" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128616" "05103" "00163479" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128617" "05103" "00163480" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128618" "05103" "00163481" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128619" "05400" "00163482" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128620" "05103" "00163483" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128621" "05400" "00163484" "02416" "Familial, autosomal recessive" "" "severe-profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128622" "05400" "00163485" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128623" "05400" "00163486" "02416" "Familial, autosomal recessive" "" "severe-profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128624" "05400" "00163487" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128625" "05103" "00163488" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128626" "05400" "00163489" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128627" "05103" "00163490" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128628" "05103" "00163491" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128629" "05103" "00163492" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128630" "05103" "00163493" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: moderate" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128631" "05103" "00163494" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128632" "05103" "00163495" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128633" "05103" "00163496" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128634" "05103" "00163497" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128635" "05103" "00163498" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128636" "05103" "00163499" "02416" "Familial, autosomal recessive" "" "hearing loss level: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128637" "05103" "00163500" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128638" "05400" "00163501" "02416" "Familial, autosomal recessive" "" "severe-profound" "" "" "" "" "" "" "" "" "DFNB-9" "deafness, autosomal recessive (DFNB)" "" "0000128639" "05103" "00163502" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: moderate" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128640" "05103" "00163503" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128641" "05103" "00163504" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128642" "05103" "00163505" "02416" "Familial, autosomal recessive" "" "dgree of hearing loss: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128643" "05103" "00163506" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128644" "05103" "00163507" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128645" "05103" "00163508" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: profound" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128646" "05103" "00163509" "02416" "Familial, autosomal recessive" "" "dgree of hearing loss: severe" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000128647" "05103" "00163510" "02416" "Familial, autosomal recessive" "" "degree of hearing loss: severe" "" "" "" "" "" "" "" "" "DFNB-9 (AUNB-1)" "non-syndromic recessive auditory neuropathy 1 (NSRAN1)" "" "0000144008" "00344" "00181179" "02552" "Familial, autosomal dominant" "" "HP:0000248\r\nHP:0000369\r\nHP:0000494" "01y" "" "" "" "" "" "" "" "" "" "" "0000188533" "02338" "00249660" "03386" "Familial" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000188534" "02338" "00249661" "03386" "Familial, autosomal recessive" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000188535" "02338" "00249662" "03386" "Familial, autosomal recessive" "" "Auditory neuropathy profound deafness" "" "" "" "" "" "" "" "" "" "" "" "0000188592" "02338" "00249723" "03386" "Isolated (sporadic)" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000223285" "02822" "00295815" "03607" "Familial, autosomal recessive" "02y" "Auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000223433" "05103" "00295957" "03607" "Familial, autosomal recessive" "" "Profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000230584" "02338" "00303507" "03386" "Familial, autosomal recessive" "" "auditory neuropathy" "01y" "" "" "" "" "" "" "" "" "" "" "0000230586" "02338" "00303509" "03386" "Isolated (sporadic)" "" "HP:0008504Moderate sensorineural hearing impairment \r\ntemperature sensitive auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000230587" "02338" "00303510" "03386" "Isolated (sporadic)" "" "HP:0008527Congenital sensorineural hearing impairment \r\nprofound deafness\r\nauditory neuropathy" "00y05m" "00y05m" "" "" "" "" "" "" "" "" "" "0000230590" "02338" "00303513" "03386" "Isolated (sporadic)" "" "HP:0008527 Congenital sensorineural hearing impairment \r\nProfound deafness auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000230591" "02338" "00303514" "03386" "Unknown" "" "HP:0008527Congenital sensorineural hearing impairment \r\nAuditory neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000230592" "02338" "00303515" "03386" "Isolated (sporadic)" "" "HP:0008527Congenital sensorineural hearing impairment \r\nAuditory neuropathy" "01y" "01y" "01y" "" "" "" "" "" "" "" "" "0000245811" "04214" "00327547" "00006" "Familial, autosomal recessive" "" "see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease" "" "" "" "" "" "" "" "" "" "" "" "0000274550" "05086" "00380702" "04006" "Familial, autosomal recessive" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000274552" "05086" "00380704" "04006" "Isolated (sporadic)" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000274560" "05086" "00380703" "04006" "Familial, autosomal recessive" "" "auditory neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000290537" "05086" "00397399" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000307043" "05611" "00415245" "00006" "Familial, autosomal recessive" "25m" "25m-died; 39w cardiopathy, birth weight 3,040 g (-0.8 SD), length 49.5 cm (-0.2 SD), OFC 34.1 cm (-0.8 SD); neonatal hypotonia; 22m-height 79.2 cm (-2.5 SD), weight 10 kg (-2 SD), OFC 43.6 cm (-3.5SD); not sitting; not walking; no speech; happy demeanor; generalized epilepsy with hyperextension of upper limbs; severe hypotonia; MRI brain 1y-cortical atrophy, enlarged ventricles, thin corpus callosum; Shone syndrome with aortic coarctation, bicuspid aortic valve, tricuspid-valve insufficiency, atrial septal defect, ventricular septal defect; nystagmus, strabismus, severe myopia; recurrent infections, 25m-died from pneumonia" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000319233" "02908" "00428324" "04147" "Familial, autosomal recessive" "" "see paper; ..., bilateral hearing loss (moderate to profound)" "" "" "HP:0011474" "" "" "" "" "" "DFNB49" "non-syndromic hearing impairment" "" "0000319321" "02338" "00428415" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0000399" "" "" "" "" "" "Non-syndromic hearing impairment" "Non-syndromic hearing impairment" "" "0000319322" "02355" "00428417" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0000399" "" "" "" "" "" "Non-syndromic tearing impairment" "Non-syndromic tearing impairment" "" "0000330545" "05086" "00441105" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "profound deafness/auditory neuropathy" "" "0000330546" "05086" "00441106" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "profound deafness" "" "0000330562" "05086" "00441122" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330773" "05086" "00441333" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330774" "05086" "00441334" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330775" "05086" "00441335" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330776" "05086" "00441336" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330777" "05086" "00441337" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330778" "05086" "00441338" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330779" "05086" "00441339" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330780" "05086" "00441340" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330781" "05086" "00441341" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330782" "05086" "00441342" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330783" "05086" "00441343" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331046" "05086" "00441637" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331047" "05086" "00441638" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331048" "05086" "00441639" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000337685" "02338" "00448502" "04656" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Severe Hearing Loss" "" "0000350946" "05400" "00465394" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350947" "05400" "00465395" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350948" "05400" "00465396" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350949" "05400" "00465397" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350950" "05400" "00465398" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350951" "05400" "00465399" "00006" "Familial, autosomal recessive" "" "hearing level 77dBHL; stable sensorineural hearing impairment; no auditory brainstem response; otoacoustic emissions; cochlear microphonics" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350952" "05400" "00465400" "00006" "Familial, autosomal recessive" "" "hearing level 95dBHL; stable sensorineural hearing impairment; no auditory brainstem response; otoacoustic emissions; cochlear microphonics" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350953" "05400" "00465401" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350954" "05400" "00465402" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350955" "05400" "00465403" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350956" "05400" "00465404" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350957" "05400" "00465405" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350958" "05400" "00465406" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350959" "05400" "00465407" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350960" "05400" "00465408" "00006" "Familial, autosomal recessive" "" "hearing level 75dBHL; stable sensorineural hearing impairment; no auditory brainstem response; otoacoustic emissions; cochlear microphonics" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350961" "05400" "00465409" "00006" "Familial, autosomal recessive" "" "hearing level 105dBHL; stable sensorineural hearing impairment; no auditory brainstem response; otoacoustic emissions; cochlear microphonics" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350962" "05400" "00465410" "00006" "Familial, autosomal recessive" "" "hearing level 110dBHL; stable sensorineural hearing impairment; no auditory brainstem response; otoacoustic emissions; cochlear microphonics" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350963" "05400" "00465411" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350964" "05400" "00465412" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350965" "05400" "00465413" "00006" "Familial, autosomal recessive" "" "hearing level 90dBHL; stable sensorineural hearing impairment; no auditory brainstem response; otoacoustic emissions; cochlear microphonics" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350966" "05400" "00465414" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350967" "05400" "00465415" "00006" "Familial, autosomal recessive" "" "hearing level 80dBHL; stable sensorineural hearing impairment; no auditory brainstem response; otoacoustic emissions; cochlear microphonics" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350968" "05400" "00465416" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350969" "05400" "00465417" "00006" "Familial, autosomal recessive" "" "hearing level 82dBHL; stable sensorineural hearing impairment; no auditory brainstem response; otoacoustic emissions; cochlear microphonics" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350970" "05400" "00465418" "00006" "Familial, autosomal recessive" "" "hearing level 100dBHL; stable sensorineural hearing impairment; no auditory brainstem response; cochlear microphonics" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350971" "05400" "00465419" "00006" "Familial, autosomal recessive" "" "hearing level 75dBHL; stable sensorineural hearing impairment; no auditory brainstem response; otoacoustic emissions; cochlear microphonics" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350972" "05400" "00465420" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350973" "05400" "00465421" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350974" "05400" "00465422" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350975" "05400" "00465423" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350976" "05400" "00465424" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350977" "05400" "00465425" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350978" "05400" "00465426" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350979" "05400" "00465427" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350980" "05400" "00465428" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350981" "05400" "00465429" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350982" "05400" "00465430" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" "0000350983" "05400" "00465431" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB9" "non-syndromic auditory neuropathy spectrum disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 248 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059017" "00059051" "1" "01542" "01542" "2016-02-19 03:06:47" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059159" "00059176" "1" "01551" "01551" "2016-02-29 16:13:32" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000156091" "00155227" "1" "00006" "00006" "2018-03-18 13:02:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000164242" "00163377" "1" "02416" "00110" "2013-11-22 11:02:14" "00110" "2014-01-06 11:35:12" "SEQ" "DNA" "" "" "0000164243" "00163378" "1" "02416" "00110" "2012-07-11 17:16:00" "00110" "2012-07-11 17:19:11" "SEQ" "DNA" "" "" "0000164244" "00163379" "1" "02416" "00110" "2012-07-11 17:18:43" "" "" "SEQ" "DNA" "" "" "0000164245" "00163380" "1" "02416" "00110" "2012-07-11 17:21:47" "" "" "SEQ" "DNA" "" "" "0000164246" "00163381" "1" "02416" "00110" "2012-07-10 16:41:04" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164247" "00163382" "1" "02416" "00110" "2013-11-08 09:19:55" "00110" "2013-11-08 10:18:50" "SEQ" "DNA" "" "" "0000164248" "00163383" "1" "02416" "00110" "2013-11-22 10:34:32" "00110" "2014-01-06 11:35:12" "SEQ" "DNA" "" "" "0000164249" "00163384" "1" "02416" "00110" "2013-12-03 10:42:47" "00110" "2014-01-27 10:00:43" "SEQ" "DNA" "" "" "0000164250" "00163385" "1" "02416" "00110" "2013-11-06 11:37:40" "00110" "2013-11-08 11:10:51" "SEQ" "DNA" "" "" "0000164251" "00163386" "1" "02416" "00110" "2013-11-08 10:10:00" "" "" "SEQ" "DNA" "" "" "0000164252" "00163387" "1" "02416" "00110" "2013-11-18 10:42:50" "00110" "2014-01-06 11:34:46" "SEQ" "DNA" "" "" "0000164253" "00163388" "1" "02416" "00110" "2012-07-09 17:44:52" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164254" "00163389" "1" "02416" "00110" "2012-07-06 12:09:25" "00110" "2012-07-11 17:37:54" "SEQ" "DNA" "" "" "0000164255" "00163390" "1" "02416" "00110" "2013-11-18 11:06:32" "00110" "2014-01-06 11:34:46" "SEQ" "DNA" "" "" "0000164256" "00163391" "1" "02416" "00110" "2013-12-09 08:54:59" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164257" "00163392" "1" "02416" "00110" "2013-11-06 10:50:03" "00110" "2013-11-06 11:28:55" "SEQ" "DNA" "" "" "0000164258" "00163393" "1" "02416" "00110" "2012-07-09 17:28:21" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164259" "00163394" "1" "02416" "00110" "2012-07-11 16:02:34" "" "" "SEQ" "DNA" "" "" "0000164260" "00163395" "1" "02416" "00110" "2013-12-09 09:04:14" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164261" "00163396" "1" "02416" "00110" "2013-02-11 12:58:54" "00110" "2014-02-06 10:22:53" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164262" "00163397" "1" "02416" "00110" "2013-11-06 11:12:12" "00110" "2013-11-08 10:59:30" "SEQ" "DNA" "" "" "0000164263" "00163398" "1" "02416" "00110" "2013-12-03 10:05:09" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164264" "00163399" "1" "02416" "00110" "2013-12-04 11:36:43" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164265" "00163400" "1" "02416" "00110" "2013-12-04 11:47:31" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164266" "00163401" "1" "02416" "00110" "2012-07-11 16:06:15" "" "" "SEQ" "DNA" "" "" "0000164267" "00163402" "1" "02416" "00110" "2012-07-11 16:10:05" "" "" "SEQ" "DNA" "" "" "0000164268" "00163403" "1" "02416" "00110" "2012-07-03 16:42:13" "00110" "2012-07-05 10:21:23" "SEQ" "DNA" "" "" "0000164269" "00163404" "1" "02416" "00110" "2012-07-10 16:11:41" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164270" "00163405" "1" "02416" "00110" "2012-07-10 16:21:45" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164271" "00163406" "1" "02416" "00110" "2013-12-02 11:47:15" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164272" "00163407" "1" "02416" "00110" "2012-07-06 12:13:33" "00110" "2012-07-10 17:36:39" "SEQ" "DNA" "" "" "0000164273" "00163408" "1" "02416" "00110" "2012-07-06 12:18:01" "00110" "2012-07-10 17:37:44" "SEQ" "DNA" "" "" "0000164274" "00163409" "1" "02416" "00110" "2012-07-03 17:15:00" "00110" "2012-07-05 10:21:23" "SEQ" "DNA" "" "" "0000164275" "00163410" "1" "02416" "00110" "2012-07-11 15:52:19" "" "" "SEQ" "DNA" "" "" "0000164276" "00163411" "1" "02416" "00110" "2013-12-03 09:52:25" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164277" "00163412" "1" "02416" "00110" "2013-02-11 12:42:01" "00110" "2014-02-06 10:22:53" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164278" "00163413" "1" "02416" "00110" "2013-12-11 10:19:01" "" "" "SEQ" "DNA" "" "" "0000164279" "00163414" "1" "02416" "00110" "2013-11-22 10:55:01" "00110" "2014-01-06 11:35:12" "SEQ" "DNA" "" "" "0000164280" "00163415" "1" "02416" "00110" "2012-07-11 16:29:34" "" "" "SEQ" "DNA" "" "" "0000164281" "00163416" "1" "02416" "00110" "2012-07-11 16:33:43" "" "" "SEQ" "DNA" "" "" "0000164282" "00163417" "1" "02416" "00110" "2012-07-10 15:03:04" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164283" "00163418" "1" "02416" "00110" "2013-12-05 11:30:21" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164284" "00163419" "1" "02416" "00110" "2013-11-19 09:08:48" "00110" "2014-01-06 11:34:46" "SEQ" "DNA" "" "" "0000164285" "00163420" "1" "02416" "00110" "2013-12-09 11:57:02" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164286" "00163421" "1" "02416" "00110" "2013-12-09 12:03:22" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164287" "00163422" "1" "02416" "00110" "2017-08-14 16:21:08" "00110" "2017-12-06 10:04:41" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164288" "00163423" "1" "02416" "00110" "2012-07-10 17:00:57" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164289" "00163424" "1" "02416" "00110" "2017-08-14 16:32:57" "00110" "2017-12-06 10:04:41" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164290" "00163425" "1" "02416" "00110" "2013-11-07 09:05:20" "" "" "SEQ" "DNA" "" "" "0000164291" "00163426" "1" "02416" "00110" "2012-07-05 14:17:44" "00110" "2012-07-06 09:27:45" "SEQ-NG-S" "DNA" "" "" "0000164292" "00163427" "1" "02416" "00110" "2012-07-03 17:04:47" "00110" "2012-07-05 10:21:23" "SEQ" "DNA" "" "" "0000164293" "00163428" "1" "02416" "00110" "2012-07-09 15:48:43" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164294" "00163429" "1" "02416" "00110" "2017-08-14 16:24:42" "00110" "2017-12-06 10:04:41" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164295" "00163430" "1" "02416" "00110" "2012-07-11 16:50:26" "" "" "SEQ" "DNA" "" "" "0000164296" "00163431" "1" "02416" "00110" "2012-07-11 16:54:41" "" "" "SEQ" "DNA" "" "" "0000164297" "00163432" "1" "02416" "00110" "2012-07-11 16:58:14" "" "" "SEQ" "DNA" "" "" "0000164298" "00163433" "1" "02416" "00110" "2012-07-04 10:54:44" "00110" "2012-07-06 10:19:43" "SEQ" "DNA" "" "" "0000164299" "00163434" "1" "02416" "00110" "2012-07-04 11:13:29" "00110" "2012-07-05 10:22:07" "SEQ" "DNA" "" "" "0000164300" "00163435" "1" "02416" "00110" "2012-07-09 14:52:51" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164301" "00163436" "1" "02416" "00110" "2012-07-09 14:56:48" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164302" "00163437" "1" "02416" "00110" "2012-07-09 14:59:40" "00110" "2013-03-20 17:21:21" "SEQ" "DNA" "" "" "0000164303" "00163438" "1" "02416" "00110" "2012-07-09 15:02:48" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164304" "00163439" "1" "02416" "00110" "2012-07-09 15:06:00" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164305" "00163440" "1" "02416" "00110" "2012-07-09 15:10:00" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164306" "00163441" "1" "02416" "00110" "2012-07-09 15:13:04" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164307" "00163442" "1" "02416" "00110" "2012-07-09 15:15:50" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164308" "00163443" "1" "02416" "00110" "2012-07-09 15:25:04" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164309" "00163444" "1" "02416" "00110" "2012-07-09 15:27:42" "00110" "2013-03-20 17:19:49" "SEQ" "DNA" "" "" "0000164310" "00163445" "1" "02416" "00110" "2012-07-09 15:30:28" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164311" "00163446" "1" "02416" "00110" "2012-07-09 15:35:55" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164312" "00163447" "1" "02416" "00110" "2012-07-09 15:38:28" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164313" "00163448" "1" "02416" "00110" "2012-07-09 15:41:06" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164314" "00163449" "1" "02416" "00110" "2012-07-09 15:44:24" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164315" "00163450" "1" "02416" "00110" "2012-07-09 16:05:42" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164316" "00163451" "1" "02416" "00110" "2012-07-09 17:22:15" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164317" "00163452" "1" "02416" "00110" "2012-07-09 17:37:11" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164318" "00163453" "1" "02416" "00110" "2012-07-09 17:50:59" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164319" "00163454" "1" "02416" "00110" "2012-07-09 17:56:11" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164320" "00163455" "1" "02416" "00110" "2012-07-10 14:57:54" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164321" "00163456" "1" "02416" "00110" "2012-07-10 15:11:00" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164322" "00163457" "1" "02416" "00110" "2012-07-10 15:49:17" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164323" "00163458" "1" "02416" "00110" "2012-07-10 15:59:46" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164324" "00163459" "1" "02416" "00110" "2012-07-10 16:27:10" "00110" "2013-03-20 17:21:00" "SEQ" "DNA" "" "" "0000164325" "00163460" "1" "02416" "00110" "2012-07-11 14:27:08" "00110" "2012-07-11 15:52:55" "SEQ" "DNA" "" "" "0000164326" "00163461" "1" "02416" "00110" "2012-07-11 14:31:34" "00110" "2013-03-20 17:19:04" "SEQ" "DNA" "" "" "0000164327" "00163462" "1" "02416" "00110" "2012-07-11 16:41:05" "" "" "SEQ" "DNA" "" "" "0000164328" "00163463" "1" "02416" "00110" "2012-07-11 16:46:01" "" "" "SEQ" "DNA" "" "" "0000164329" "00163464" "1" "02416" "00110" "2012-07-10 16:52:15" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164330" "00163465" "1" "02416" "00110" "2012-07-03 16:31:04" "" "" "SEQ" "DNA" "" "" "0000164331" "00163466" "1" "02416" "00110" "2012-07-10 16:07:13" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164332" "00163467" "1" "02416" "00110" "2012-07-06 12:26:10" "00110" "2012-07-10 17:34:46" "SEQ" "DNA" "" "" "0000164333" "00163468" "1" "02416" "00110" "2012-07-04 11:38:24" "" "" "SEQ-NG-S" "DNA" "" "" "0000164334" "00163469" "1" "02416" "00110" "2013-11-08 10:31:51" "" "" "SEQ" "DNA" "" "" "0000164335" "00163470" "1" "02416" "00110" "2012-07-03 16:48:39" "00110" "2012-07-05 10:21:23" "SEQ" "DNA" "" "" "0000164336" "00163471" "1" "02416" "00110" "2012-07-10 16:34:11" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164337" "00163472" "1" "02416" "00110" "2013-11-20 08:57:02" "00110" "2014-01-06 11:34:46" "SEQ" "DNA" "" "" "0000164338" "00163473" "1" "02416" "00110" "2013-11-20 11:19:32" "00110" "2014-01-06 11:34:46" "SEQ" "DNA" "" "" "0000164339" "00163474" "1" "02416" "00110" "2013-12-10 09:19:18" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164340" "00163475" "1" "02416" "00110" "2012-07-06 11:48:32" "00110" "2012-07-10 17:30:56" "SEQ" "DNA" "" "" "0000164341" "00163476" "1" "02416" "00110" "2012-07-06 11:52:57" "00110" "2012-07-10 17:31:54" "SEQ" "DNA" "" "" "0000164342" "00163477" "1" "02416" "00110" "2012-07-06 11:56:25" "00110" "2012-07-10 17:32:44" "SEQ" "DNA" "" "" "0000164343" "00163478" "1" "02416" "00110" "2013-06-26 17:52:37" "00110" "2013-11-05 11:39:20" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164344" "00163479" "1" "02416" "00110" "2012-07-10 16:02:41" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164345" "00163480" "1" "02416" "00110" "2012-07-10 16:56:18" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164346" "00163481" "1" "02416" "00110" "2013-11-21 11:31:47" "00110" "2014-01-06 11:34:46" "SEQ" "DNA" "" "" "0000164347" "00163482" "1" "02416" "00110" "2013-12-05 09:01:45" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164348" "00163483" "1" "02416" "00110" "2012-07-03 16:54:33" "00110" "2012-07-05 10:21:23" "SEQ" "DNA" "" "" "0000164349" "00163484" "1" "02416" "00110" "2013-11-08 11:06:00" "" "" "SEQ" "DNA" "" "" "0000164350" "00163485" "1" "02416" "00110" "2013-11-21 10:24:44" "00110" "2014-01-06 11:34:46" "SEQ" "DNA" "" "" "0000164351" "00163486" "1" "02416" "00110" "2013-11-08 10:54:05" "" "" "SEQ" "DNA" "" "" "0000164352" "00163487" "1" "02416" "00110" "2013-12-10 10:37:52" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164353" "00163488" "1" "02416" "00110" "2012-07-10 16:46:10" "00110" "2013-03-20 17:11:34" "SEQ" "DNA" "" "" "0000164354" "00163489" "1" "02416" "00110" "2013-12-10 10:42:27" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164355" "00163490" "1" "02416" "00110" "2012-07-03 17:20:15" "00110" "2012-07-05 10:21:23" "SEQ" "DNA" "" "" "0000164356" "00163491" "1" "02416" "00110" "2013-11-22 11:15:22" "00110" "2014-01-06 11:35:12" "SEQ" "DNA" "" "" "0000164357" "00163492" "1" "02416" "00110" "2012-07-03 14:37:01" "" "" "SEQ" "DNA" "" "" "0000164358" "00163493" "1" "02416" "00110" "2013-12-03 09:36:31" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164359" "00163494" "1" "02416" "00110" "2013-12-03 10:26:09" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164360" "00163495" "1" "02416" "00110" "2013-12-05 08:49:58" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164361" "00163496" "1" "02416" "00110" "2013-12-05 08:52:03" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164362" "00163497" "1" "02416" "00110" "2013-12-05 08:55:37" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164363" "00163498" "1" "02416" "00110" "2013-12-05 11:42:22" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164364" "00163499" "1" "02416" "00110" "2013-12-05 11:49:10" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164365" "00163500" "1" "02416" "00110" "2013-12-03 11:04:24" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164366" "00163501" "1" "02416" "00110" "2013-11-08 11:18:35" "" "" "SEQ" "DNA" "" "" "0000164367" "00163502" "1" "02416" "00110" "2013-12-03 10:48:39" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164368" "00163503" "1" "02416" "00110" "2013-12-03 10:56:30" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164369" "00163504" "1" "02416" "00110" "2013-12-03 11:27:24" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164370" "00163505" "1" "02416" "00110" "2013-12-03 11:29:42" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164371" "00163506" "1" "02416" "00110" "2013-12-03 11:31:26" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164372" "00163507" "1" "02416" "00110" "2013-12-03 11:33:23" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164373" "00163508" "1" "02416" "00110" "2013-12-03 11:35:08" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164374" "00163509" "1" "02416" "00110" "2013-12-03 11:36:44" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000164375" "00163510" "1" "02416" "00110" "2013-12-03 11:38:44" "00110" "2014-01-06 11:39:28" "SEQ" "DNA" "" "" "0000182137" "00181179" "1" "02552" "02552" "2018-10-02 15:10:25" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000250766" "00249660" "1" "03386" "03386" "2019-08-02 09:30:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000250768" "00249661" "1" "03386" "03386" "2019-08-02 10:00:36" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000250769" "00249662" "1" "03386" "03386" "2019-08-02 10:16:12" "" "" "PCRm;SEQ" "DNA" "" "" "0000250829" "00249722" "1" "03386" "03386" "2019-08-02 10:53:33" "" "" "SEQ-NG" "DNA" "" "" "0000250830" "00249723" "1" "03386" "03386" "2019-08-02 11:05:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000293849" "00292681" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293850" "00292682" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293851" "00292683" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293852" "00292684" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293853" "00292685" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293854" "00292686" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293855" "00292687" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293856" "00292688" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293857" "00292689" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293858" "00292690" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293859" "00292691" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293860" "00292692" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293861" "00292693" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293862" "00292694" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293863" "00292695" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293864" "00292696" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293865" "00292697" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293866" "00292698" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296989" "00295815" "1" "03607" "03607" "2020-03-27 07:48:30" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000297129" "00295957" "1" "03607" "03607" "2020-03-30 14:17:11" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000304635" "00303507" "1" "03386" "03386" "2020-06-15 14:48:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000304637" "00303509" "1" "03386" "03386" "2020-06-15 15:15:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000304638" "00303510" "1" "03386" "03386" "2020-06-15 15:28:13" "" "" "MIPsm;SEQ;SEQ-NG-I" "DNA" "" "" "0000304641" "00303513" "1" "03386" "03386" "2020-06-15 15:46:56" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000304642" "00303514" "1" "03386" "03386" "2020-06-15 15:54:55" "" "" "MIPsm;SEQ;SEQ-NG-I" "DNA" "" "" "0000304643" "00303515" "1" "03386" "03386" "2020-06-15 16:00:29" "" "" "MIPsm;SEQ;SEQ-NG-I" "DNA" "" "" "0000305941" "00304812" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305942" "00304813" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305943" "00304814" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309834" "00308689" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000328249" "00327035" "1" "03611" "03611" "2021-01-19 04:24:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000328279" "00327065" "1" "03611" "03611" "2021-01-20 03:33:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000328280" "00327066" "1" "03611" "03611" "2021-01-20 03:43:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000328762" "00327547" "1" "00006" "00006" "2021-01-23 14:41:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000381915" "00380702" "1" "04006" "04006" "2021-08-19 19:05:35" "" "" "SEQ" "DNA" "" "" "0000381916" "00380703" "1" "04006" "04006" "2021-08-19 19:09:20" "" "" "SEQ" "DNA" "" "" "0000381917" "00380704" "1" "04006" "04006" "2021-08-19 19:12:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000398639" "00397399" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000412818" "00411548" "1" "02416" "00110" "2022-06-15 17:02:23" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000412821" "00411551" "1" "02416" "00110" "2022-06-15 17:24:16" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000412822" "00411552" "1" "02416" "00110" "2022-06-15 17:29:24" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000416527" "00415245" "1" "00006" "00006" "2022-08-10 16:14:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429737" "00428324" "1" "04147" "04147" "2022-12-31 20:36:03" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "Otogenetics Deafness Panel" "0000429828" "00428415" "1" "04147" "04147" "2023-01-03 15:53:02" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000429829" "00428417" "1" "04147" "04147" "2023-01-03 16:07:56" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000442590" "00441105" "1" "00006" "00006" "2023-11-06 09:06:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442591" "00441106" "1" "00006" "00006" "2023-11-06 09:06:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442607" "00441122" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442819" "00441333" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442820" "00441334" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442821" "00441335" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442822" "00441336" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442823" "00441337" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442824" "00441338" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442825" "00441339" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442826" "00441340" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442827" "00441341" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442828" "00441342" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442829" "00441343" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443123" "00441637" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443124" "00441638" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443125" "00441639" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450082" "00448502" "1" "04656" "04656" "2024-03-18 07:29:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000467043" "00465394" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467044" "00465395" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467045" "00465396" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467046" "00465397" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467047" "00465398" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467048" "00465399" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467049" "00465400" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467050" "00465401" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467051" "00465402" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467052" "00465403" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467053" "00465404" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467054" "00465405" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467055" "00465406" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467056" "00465407" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467057" "00465408" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467058" "00465409" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467059" "00465410" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467060" "00465411" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467061" "00465412" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467062" "00465413" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467063" "00465414" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467064" "00465415" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467065" "00465416" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467066" "00465417" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467067" "00465418" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467068" "00465419" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467069" "00465420" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467070" "00465421" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467071" "00465422" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467072" "00465423" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467073" "00465424" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467074" "00465425" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467075" "00465426" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467076" "00465427" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467077" "00465428" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467078" "00465429" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467079" "00465430" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467080" "00465431" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467081" "00465432" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467082" "00465433" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467083" "00465434" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" "0000467084" "00465435" "1" "00006" "00006" "2025-05-17 09:21:48" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 191 "{{screeningid}}" "{{geneid}}" "0000059159" "OTOF" "0000164242" "OTOF" "0000164243" "OTOF" "0000164244" "OTOF" "0000164245" "OTOF" "0000164246" "OTOF" "0000164247" "OTOF" "0000164248" "OTOF" "0000164249" "OTOF" "0000164250" "OTOF" "0000164251" "OTOF" "0000164252" "OTOF" "0000164253" "OTOF" "0000164254" "OTOF" "0000164255" "OTOF" "0000164256" "OTOF" "0000164257" "OTOF" "0000164258" "OTOF" "0000164259" "OTOF" "0000164260" "OTOF" "0000164261" "OTOF" "0000164262" "OTOF" "0000164263" "OTOF" "0000164264" "OTOF" "0000164265" "OTOF" "0000164266" "OTOF" "0000164267" "OTOF" "0000164268" "OTOF" "0000164269" "OTOF" "0000164270" "OTOF" "0000164271" "OTOF" "0000164272" "OTOF" "0000164273" "OTOF" "0000164274" "OTOF" "0000164275" "OTOF" "0000164276" "OTOF" "0000164277" "OTOF" "0000164278" "OTOF" "0000164279" "OTOF" "0000164280" "OTOF" "0000164281" "OTOF" "0000164282" "OTOF" "0000164283" "OTOF" "0000164284" "OTOF" "0000164285" "OTOF" "0000164286" "OTOF" "0000164287" "OTOF" "0000164288" "OTOF" "0000164289" "OTOF" "0000164290" "OTOF" "0000164291" "OTOF" "0000164292" "OTOF" "0000164293" "OTOF" "0000164294" "OTOF" "0000164295" "OTOF" "0000164296" "OTOF" "0000164297" "OTOF" "0000164298" "OTOF" "0000164299" "OTOF" "0000164300" "OTOF" "0000164301" "OTOF" "0000164302" "OTOF" "0000164303" "OTOF" "0000164304" "OTOF" "0000164305" "OTOF" "0000164306" "OTOF" "0000164307" "OTOF" "0000164308" "OTOF" "0000164309" "OTOF" "0000164310" "OTOF" "0000164311" "OTOF" "0000164312" "OTOF" "0000164313" "OTOF" "0000164314" "OTOF" "0000164315" "OTOF" "0000164316" "OTOF" "0000164317" "OTOF" "0000164318" "OTOF" "0000164319" "OTOF" "0000164320" "OTOF" "0000164321" "OTOF" "0000164322" "OTOF" "0000164323" "OTOF" "0000164324" "OTOF" "0000164325" "OTOF" "0000164326" "OTOF" "0000164327" "OTOF" "0000164328" "OTOF" "0000164329" "OTOF" "0000164330" "OTOF" "0000164331" "OTOF" "0000164332" "OTOF" "0000164333" "OTOF" "0000164334" "OTOF" "0000164335" "OTOF" "0000164336" "OTOF" "0000164337" "OTOF" "0000164338" "OTOF" "0000164339" "OTOF" "0000164340" "OTOF" "0000164341" "OTOF" "0000164342" "OTOF" "0000164343" "OTOF" "0000164344" "OTOF" "0000164345" "OTOF" "0000164346" "OTOF" "0000164347" "OTOF" "0000164348" "OTOF" "0000164349" "OTOF" "0000164350" "OTOF" "0000164351" "OTOF" "0000164352" "OTOF" "0000164353" "OTOF" "0000164354" "OTOF" "0000164355" "OTOF" "0000164356" "OTOF" "0000164357" "OTOF" "0000164358" "OTOF" "0000164359" "OTOF" "0000164360" "OTOF" "0000164361" "OTOF" "0000164362" "OTOF" "0000164363" "OTOF" "0000164364" "OTOF" "0000164365" "OTOF" "0000164366" "OTOF" "0000164367" "OTOF" "0000164368" "OTOF" "0000164369" "OTOF" "0000164370" "OTOF" "0000164371" "OTOF" "0000164372" "OTOF" "0000164373" "OTOF" "0000164374" "OTOF" "0000164375" "OTOF" "0000296989" "OTOF" "0000297129" "OTOF" "0000304635" "OTOF" "0000304637" "OTOF" "0000304638" "OTOF" "0000304641" "OTOF" "0000304642" "OTOF" "0000304643" "OTOF" "0000309834" "OTOF" "0000381915" "OTOF" "0000381916" "OTOF" "0000381917" "OTOF" "0000398639" "OTOF" "0000450082" "OTOF" "0000467043" "OTOF" "0000467044" "OTOF" "0000467045" "OTOF" "0000467046" "OTOF" "0000467047" "OTOF" "0000467048" "OTOF" "0000467049" "OTOF" "0000467050" "OTOF" "0000467051" "OTOF" "0000467052" "OTOF" "0000467053" "OTOF" "0000467054" "OTOF" "0000467055" "OTOF" "0000467056" "OTOF" "0000467057" "OTOF" "0000467058" "OTOF" "0000467059" "OTOF" "0000467060" "OTOF" "0000467061" "OTOF" "0000467062" "OTOF" "0000467063" "OTOF" "0000467064" "OTOF" "0000467065" "OTOF" "0000467066" "OTOF" "0000467067" "OTOF" "0000467068" "OTOF" "0000467069" "OTOF" "0000467070" "OTOF" "0000467071" "OTOF" "0000467072" "OTOF" "0000467073" "OTOF" "0000467074" "OTOF" "0000467075" "OTOF" "0000467076" "OTOF" "0000467077" "OTOF" "0000467078" "OTOF" "0000467079" "OTOF" "0000467080" "OTOF" "0000467081" "OTOF" "0000467082" "OTOF" "0000467083" "OTOF" "0000467084" "OTOF" ## 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 = 524 "{{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}}" "0000089816" "21" "90" "2" "26690232" "26690232" "subst" "8.12348E-6" "01542" "OTOF_000044" "g.26690232C>A" "1/121 cases" "" "" "" "not in 211 controls" "Germline" "yes" "" "0" "" "" "g.26467364C>A" "" "pathogenic" "" "0000089817" "11" "90" "2" "26685049" "26685049" "subst" "0" "01542" "OTOF_000191" "g.26685049C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26462181C>T" "" "pathogenic" "" "0000089975" "0" "50" "2" "26699016" "26699016" "subst" "0" "01551" "OTOF_000194" "g.26699016G>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.26476148G>T" "" "VUS" "" "0000089976" "0" "50" "2" "26703827" "26703827" "subst" "0.000775175" "01551" "OTOF_000193" "g.26703827G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.26480959G>A" "" "VUS" "" "0000254519" "0" "30" "2" "26700694" "26700694" "subst" "0.00421159" "01943" "OTOF_000210" "g.26700694A>C" "" "" "" "OTOF(NM_194322.2):c.68T>G (p.I23S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477826A>C" "" "likely benign" "" "0000254667" "0" "30" "2" "26700697" "26700697" "subst" "0.00264229" "01943" "OTOF_000211" "g.26700697A>G" "" "" "" "OTOF(NM_194322.2):c.65T>C (p.L22P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477829A>G" "" "likely benign" "" "0000296694" "0" "10" "2" "26699126" "26699126" "subst" "0.567651" "02325" "OTOF_000203" "g.26699126C>G" "" "" "" "OTOF(NM_194248.3):c.2736G>C (p.L912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26476258C>G" "" "benign" "" "0000296695" "0" "10" "2" "26700700" "26700700" "subst" "0.523641" "02325" "OTOF_000212" "g.26700700G>A" "" "" "" "OTOF(NM_194322.3):c.62C>T (p.P21L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477832G>A" "" "benign" "" "0000304850" "0" "30" "2" "26700636" "26700636" "subst" "0.00436087" "01943" "OTOF_000209" "g.26700636G>C" "" "" "" "OTOF(NM_194322.2):c.126C>G (p.T42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477768G>C" "" "likely benign" "" "0000304851" "0" "30" "2" "26705440" "26705440" "subst" "3.66056E-5" "01943" "OTOF_000215" "g.26705440C>T" "" "" "" "OTOF(NM_194248.2):c.1413G>A (p.K471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26482572C>T" "" "likely benign" "" "0000304852" "0" "50" "2" "26703128" "26703128" "subst" "7.72515E-5" "01943" "OTOF_000214" "g.26703128C>T" "" "" "" "OTOF(NM_194248.2):c.1855G>A (p.A619T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26480260C>T" "" "VUS" "" "0000304853" "0" "30" "2" "26702409" "26702409" "subst" "0.00799402" "01943" "OTOF_000213" "g.26702409C>T" "" "" "" "OTOF(NM_194248.2):c.2025G>A (p.E675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26479541C>T" "" "likely benign" "" "0000304854" "0" "50" "2" "26700580" "26700580" "subst" "0.000118196" "01943" "OTOF_000208" "g.26700580G>A" "" "" "" "OTOF(NM_194248.2):c.2252C>T (p.T751M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477712G>A" "" "VUS" "" "0000304855" "0" "10" "2" "26700373" "26700373" "subst" "0.015274" "01943" "OTOF_000207" "g.26700373G>A" "" "" "" "OTOF(NM_004802.3):c.76C>T (p.(Arg26Cys)), OTOF(NM_194248.2):c.2317C>T (p.R773C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477505G>A" "" "benign" "" "0000304856" "0" "50" "2" "26700316" "26700316" "subst" "0.000904468" "01943" "OTOF_000206" "g.26700316G>A" "" "" "" "OTOF(NM_194248.2):c.2374C>T (p.R792W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477448G>A" "" "VUS" "" "0000304857" "0" "70" "2" "26700309" "26700309" "subst" "0.00112488" "01943" "OTOF_000205" "g.26700309C>T" "" "" "" "OTOF(NM_194248.2):c.2381G>A (p.R794H), OTOF(NM_194248.3):c.2381G>A (p.R794H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477441C>T" "" "likely pathogenic" "" "0000304858" "0" "50" "2" "26700098" "26700098" "subst" "7.13806E-5" "01943" "OTOF_000204" "g.26700098C>T" "" "" "" "OTOF(NM_194248.2):c.2465G>A (p.R822Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477230C>T" "" "VUS" "" "0000304859" "0" "30" "2" "26741908" "26741908" "subst" "0.0028373" "01943" "OTOF_000220" "g.26741908C>T" "" "" "" "OTOF(NM_194248.2):c.297G>A (p.T99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26519040C>T" "" "likely benign" "" "0000304860" "0" "30" "2" "26696904" "26696904" "subst" "8.13829E-6" "01943" "OTOF_000202" "g.26696904G>A" "" "" "" "OTOF(NM_194248.2):c.3363C>T (p.P1121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26474036G>A" "" "likely benign" "" "0000304861" "0" "50" "2" "26696416" "26696416" "subst" "2.89426E-5" "01943" "OTOF_000201" "g.26696416C>T" "" "" "" "OTOF(NM_194248.2):c.3428G>A (p.R1143Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26473548C>T" "" "VUS" "" "0000304862" "0" "50" "2" "26696390" "26696390" "subst" "0" "01943" "OTOF_000200" "g.26696390G>T" "" "" "" "OTOF(NM_194248.2):c.3454C>A (p.Q1152K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26473522G>T" "" "VUS" "" "0000304863" "0" "30" "2" "26739428" "26739428" "subst" "0.00340147" "01943" "OTOF_000219" "g.26739428C>T" "" "" "" "OTOF(NM_194248.2):c.367G>A (p.G123S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26516560C>T" "" "likely benign" "" "0000304864" "0" "50" "2" "26693518" "26693518" "subst" "0.000719214" "01943" "OTOF_000199" "g.26693518G>C" "" "" "" "OTOF(NM_194248.2):c.3966C>G (p.D1322E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26470650G>C" "" "VUS" "" "0000304865" "0" "50" "2" "26687877" "26687877" "subst" "9.32923E-5" "01943" "OTOF_000198" "g.26687877C>T" "" "" "" "OTOF(NM_194248.2):c.4820G>A (p.R1607Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26465009C>T" "" "VUS" "" "0000304866" "0" "50" "2" "26686897" "26686897" "subst" "0.00041533" "01943" "OTOF_000197" "g.26686897G>A" "" "" "" "OTOF(NM_194248.2):c.5038C>T (p.R1680C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26464029G>A" "" "VUS" "" "0000304867" "0" "10" "2" "26739290" "26739290" "subst" "0.00190823" "01943" "OTOF_000218" "g.26739290G>A" "" "" "" "OTOF(NM_194248.2):c.505C>T (p.R169W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26516422G>A" "" "benign" "" "0000304868" "0" "50" "2" "26686872" "26686872" "subst" "0.00124682" "01943" "OTOF_000196" "g.26686872G>A" "" "" "" "OTOF(NM_194248.2):c.5063C>T (p.T1688M), OTOF(NM_194248.3):c.5063C>T (p.T1688M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26464004G>A" "" "VUS" "" "0000304869" "0" "50" "2" "26684692" "26684692" "subst" "0.000158364" "01943" "OTOF_000195" "g.26684692G>A" "" "" "" "OTOF(NM_194248.2):c.5405C>T (p.A1802V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26461824G>A" "" "VUS" "" "0000304870" "0" "30" "2" "26725158" "26725158" "subst" "0.00996363" "01943" "OTOF_000217" "g.26725158G>A" "" "" "" "OTOF(NM_194248.2):c.710+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26502290G>A" "" "likely benign" "" "0000304871" "0" "30" "2" "26712611" "26712611" "subst" "1.2233E-5" "01943" "OTOF_000216" "g.26712611G>A" "" "" "" "OTOF(NM_194248.2):c.898-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26489743G>A" "" "likely benign" "" "0000337640" "0" "30" "2" "26687908" "26687908" "subst" "0.00182407" "02327" "OTOF_000226" "g.26687908G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26465040G>A" "" "likely benign" "" "0000337641" "0" "10" "2" "26700501" "26700501" "subst" "0.00900596" "02327" "OTOF_000243" "g.26700501G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477633G>A" "" "benign" "" "0000337642" "0" "50" "2" "26702105" "26702105" "subst" "0" "02327" "OTOF_000244" "g.26702105C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26479237C>T" "" "VUS" "" "0000337643" "0" "30" "2" "26702322" "26702322" "subst" "0.000671415" "02327" "OTOF_000246" "g.26702322G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26479454G>A" "" "likely benign" "" "0000337644" "0" "10" "2" "26717944" "26717944" "subst" "0.0314935" "02327" "OTOF_000250" "g.26717944G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26495076G>A" "" "benign" "" "0000337645" "0" "10" "2" "26725158" "26725158" "subst" "0.00996363" "02327" "OTOF_000217" "g.26725158G>A" "" "" "" "OTOF(NM_194248.2):c.710+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26502290G>A" "" "benign" "" "0000337646" "0" "10" "2" "26781559" "26781559" "subst" "0" "02327" "OTOF_000255" "g.26781559C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26558691C>A" "" "benign" "" "0000339775" "0" "10" "2" "26683777" "26683777" "subst" "0.0460144" "02327" "OTOF_000221" "g.26683777G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26460909G>A" "" "benign" "" "0000339776" "0" "30" "2" "26688572" "26688572" "subst" "0.0302292" "02327" "OTOF_000227" "g.26688572G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26465704G>A" "" "likely benign" "" "0000339777" "0" "10" "2" "26688662" "26688662" "subst" "0.034407" "02327" "OTOF_000228" "g.26688662C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26465794C>T" "" "benign" "" "0000339778" "0" "30" "2" "26697513" "26697513" "subst" "1.22009E-5" "02327" "OTOF_000235" "g.26697513G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26474645G>A" "" "likely benign" "" "0000339779" "0" "10" "2" "26699033" "26699033" "subst" "0.00945486" "02327" "OTOF_000237" "g.26699033G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26476165G>A" "" "benign" "" "0000339780" "0" "10" "2" "26699126" "26699126" "subst" "0.567651" "02327" "OTOF_000203" "g.26699126C>G" "" "" "" "OTOF(NM_194248.3):c.2736G>C (p.L912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26476258C>G" "" "benign" "" "0000339781" "0" "10" "2" "26699159" "26699159" "subst" "0.036215" "02327" "OTOF_000238" "g.26699159C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26476291C>T" "" "benign" "" "0000339782" "0" "10" "2" "26699822" "26699822" "subst" "0.0340164" "02327" "OTOF_000240" "g.26699822G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26476954G>A" "" "benign" "" "0000339783" "0" "10" "2" "26699855" "26699855" "subst" "0.47335" "02327" "OTOF_000241" "g.26699855G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26476987G>C" "" "benign" "" "0000339784" "0" "10" "2" "26702412" "26702412" "subst" "0.0288813" "02327" "OTOF_000247" "g.26702412G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26479544G>A" "" "benign" "" "0000339785" "0" "10" "2" "26739423" "26739423" "subst" "0.301277" "02327" "OTOF_000252" "g.26739423T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26516555T>C" "" "benign" "" "0000340769" "0" "10" "2" "26702409" "26702409" "subst" "0.00799402" "02327" "OTOF_000213" "g.26702409C>T" "" "" "" "OTOF(NM_194248.2):c.2025G>A (p.E675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26479541C>T" "" "benign" "" "0000341080" "0" "10" "2" "26712561" "26712561" "subst" "0.0537913" "02327" "OTOF_000248" "g.26712561C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26489693C>T" "" "benign" "" "0000341110" "0" "10" "2" "26697422" "26697422" "subst" "0.014598" "02327" "OTOF_000234" "g.26697422C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26474554C>G" "" "benign" "" "0000341491" "0" "10" "2" "26750769" "26750769" "subst" "0.0647593" "02327" "OTOF_000254" "g.26750769G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26527901G>A" "" "benign" "" "0000341743" "0" "90" "2" "26696867" "26696867" "subst" "1.62775E-5" "02327" "OTOF_000232" "g.26696867G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26473999G>A" "" "pathogenic" "" "0000342098" "0" "50" "2" "26684722" "26684722" "subst" "8.1213E-6" "02327" "OTOF_000223" "g.26684722C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26461854C>T" "" "VUS" "" "0000342357" "0" "90" "2" "26725169" "26725169" "subst" "4.47184E-5" "02327" "OTOF_000251" "g.26725169G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26502301G>A" "" "pathogenic" "" "0000342469" "0" "70" "2" "26717916" "26717916" "subst" "4.06372E-6" "02327" "OTOF_000249" "g.26717916C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26495048C>G" "" "likely pathogenic" "" "0000343286" "0" "90" "2" "26702224" "26702224" "subst" "3.27305E-5" "02327" "OTOF_000245" "g.26702224G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26479356G>A" "" "pathogenic" "" "0000343354" "0" "10" "2" "26700373" "26700373" "subst" "0.015274" "02327" "OTOF_000207" "g.26700373G>A" "" "" "" "OTOF(NM_004802.3):c.76C>T (p.(Arg26Cys)), OTOF(NM_194248.2):c.2317C>T (p.R773C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477505G>A" "" "benign" "" "0000343371" "0" "50" "2" "26700309" "26700309" "subst" "0.00112488" "02327" "OTOF_000205" "g.26700309C>T" "" "" "" "OTOF(NM_194248.2):c.2381G>A (p.R794H), OTOF(NM_194248.3):c.2381G>A (p.R794H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477441C>T" "" "VUS" "" "0000343399" "0" "10" "2" "26741961" "26741961" "subst" "0.405754" "02327" "OTOF_000253" "g.26741961G>A" "" "" "" "OTOF(NM_194248.3):c.244C>T (p.R82C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26519093G>A" "" "benign" "" "0000343527" "0" "50" "2" "26698865" "26698865" "subst" "0.000455295" "02327" "OTOF_000236" "g.26698865G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26475997G>A" "" "VUS" "" "0000343914" "0" "50" "2" "26690017" "26690017" "subst" "0" "02327" "OTOF_000229" "g.26690017C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26467149C>A" "" "VUS" "" "0000343964" "0" "70" "2" "26684597" "26684597" "subst" "0" "02327" "OTOF_000222" "g.26684597C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26461729C>T" "" "likely pathogenic" "" "0000344254" "0" "10" "2" "26695500" "26695500" "subst" "0.0158206" "02327" "OTOF_000231" "g.26695500A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26472632A>C" "" "benign" "" "0000344469" "0" "90" "2" "26699786" "26699786" "subst" "8.17387E-6" "02327" "OTOF_000239" "g.26699786G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26476918G>A" "" "pathogenic" "" "0000345558" "0" "50" "2" "26700156" "26700156" "subst" "1.26613E-5" "02327" "OTOF_000242" "g.26700156C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26477288C>T" "" "VUS" "" "0000351083" "0" "50" "2" "26686364" "26686364" "subst" "3.94166E-5" "02327" "OTOF_000225" "g.26686364G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26463496G>A" "" "VUS" "" "0000351084" "0" "90" "2" "26695385" "26695385" "subst" "4.06359E-6" "02327" "OTOF_000230" "g.26695385A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26472517A>G" "" "pathogenic" "" "0000357962" "3" "70" "2" "26707394" "26707394" "subst" "8.13498E-6" "00006" "OTOF_000256" "g.26707394T>C" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.26484526T>C" "" "likely pathogenic" "" "0000367359" "11" "99" "2" "26702132" "26781566" "del" "0" "02416" "OTOF_000137" "g.26702132_26781566del" "" "{PMID:Zadro et al,.2010:20211493}" "" "" "Heterozygous\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367360" "3" "99" "2" "26725170" "26725170" "subst" "0" "02416" "OTOF_000101" "g.26725170T>C" "" "{PMID:Yasunaga et al,.2000:10903124}" "" "" "homozygous\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367361" "3" "99" "2" "26725170" "26725170" "subst" "0" "02416" "OTOF_000102" "g.26725170T>C" "" "{PMID:Yasunaga et al,.2000:10903124}" "" "" "homozygous\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367362" "3" "99" "2" "26725170" "26725170" "subst" "0" "02416" "OTOF_000103" "g.26725170T>C" "" "{PMID:Yasunaga et al,.2000:10903124}" "" "" "homozygous\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367363" "0" "99" "2" "26724622" "26724622" "subst" "0" "02416" "OTOF_000078" "g.26724622C>G" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "heterozygous, {MSV3dQ9HC10:p.Gln255His}" "Germline" "" "" "0" "" "" "g.26501754C>G" "" "pathogenic" "" "0000367364" "3" "33" "2" "26717944" "26717944" "subst" "0.0314935" "02416" "OTOF_000118" "g.26717944G>A" "7/182" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26495076G>A" "" "likely benign" "ACMG" "0000367365" "3" "99" "2" "26717812" "26717812" "subst" "0" "02416" "OTOF_000134" "g.26717812A>T" "" "{PMID:Zadro et al,.2010:20211493}" "" "" "homozygous\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367366" "2" "99" "2" "26717805" "26717805" "subst" "0" "02416" "OTOF_000149" "g.26717805C>T" "0/362" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26494937C>T" "" "pathogenic" "" "0000367367" "3" "33" "2" "26712561" "26712561" "subst" "0.0537913" "02416" "OTOF_000119" "g.26712561C>T" "" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26489693C>T" "" "likely benign" "ACMG" "0000367368" "3" "33" "2" "26712561" "26712561" "subst" "0.0537913" "02416" "OTOF_000119" "g.26712561C>T" "" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26489693C>T" "" "likely benign" "ACMG" "0000367369" "0" "77" "2" "26707445" "26707445" "subst" "0" "02416" "OTOF_000126" "g.26707445C>T" "1/152 controls" "{PMID:Wang et al,.2011:21935370}" "" "" "{MSV3dQ9HC10:p.Gly368Arg}" "Germline" "" "" "0" "" "" "g.26484577C>T" "" "likely pathogenic" "ACMG" "0000367370" "0" "99" "2" "26707367" "26707367" "dup" "0" "02416" "OTOF_000052" "g.26707367dup" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "c.1180dupG" "Heterozygous" "Germline" "" "" "0" "" "" "g.26484499dup" "" "pathogenic" "" "0000367371" "0" "99" "2" "26707353" "26707353" "subst" "0.000207565" "02416" "OTOF_000020" "g.26707353A>T" "0/184 controls" "{PMID:Wang et al,.2010:20504331}" "" "" "{MSV3dQ9HC10:p.Asp398Glu}" "Germline" "" "" "0" "" "" "g.26484485A>T" "" "pathogenic" "" "0000367372" "0" "77" "2" "26707353" "26707353" "subst" "0.000207565" "02416" "OTOF_000127" "g.26707353A>T" "1/152 controls" "{PMID:Wang et al,.2011:21935370}" "" "" "{MSV3dQ9HC10:p.Asp398Glu}" "Germline" "" "" "0" "" "" "g.26484485A>T" "" "likely pathogenic" "ACMG" "0000367373" "0" "99" "2" "26707353" "26707353" "subst" "0.000207565" "02416" "OTOF_000174" "g.26707353A>T" "1/380 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Asp398Glu}" "Germline" "" "" "0" "" "" "g.26484485A>T" "" "pathogenic" "" "0000367374" "3" "99" "2" "26707443" "26707444" "delins" "0" "02416" "OTOF_000108" "g.26707443_26707444delinsG" "0/196" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26484575_26484576delinsG" "" "pathogenic" "" "0000367375" "0" "99" "2" "26706491" "26706491" "del" "0" "02416" "OTOF_000048" "g.26706491del" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "c.1236delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.26483623del" "" "pathogenic" "" "0000367376" "11" "99" "2" "26706375" "26706375" "del" "0" "02416" "OTOF_000090" "g.26706375del" "0/184 controls" "{PMID:Varga et al,.2005:16371502}" "" "c.1348delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.26483507del" "" "pathogenic" "" "0000367377" "0" "99" "2" "26706372" "26706372" "subst" "8.12301E-6" "02416" "OTOF_000175" "g.26706372G>C" "1/380 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Asp450Glu}" "Germline" "" "" "0" "" "" "g.26483504G>C" "" "pathogenic" "" "0000367378" "0" "99" "2" "26706329" "26706329" "subst" "0" "02416" "OTOF_000105" "g.26706329C>A" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "-BaeI;-HpyAV;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26483461C>A" "" "pathogenic" "" "0000367379" "3" "99" "2" "26706449" "26706449" "subst" "8.13107E-6" "02416" "OTOF_000109" "g.26706449G>A" "0/252" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26483581G>A" "" "pathogenic" "" "0000367380" "1" "99" "2" "26705431" "26705431" "subst" "0" "02416" "OTOF_000144" "g.26705431A>T" "0/192" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26482563A>T" "" "pathogenic" "" "0000367381" "1" "99" "2" "26705431" "26705431" "subst" "0" "02416" "OTOF_000161" "g.26705431A>T" "0/374 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Tyr474*}" "Germline" "" "" "0" "" "" "g.26482563A>T" "" "pathogenic" "" "0000367382" "1" "99" "2" "26705431" "26705431" "subst" "0" "02416" "OTOF_000163" "g.26705431A>T" "0/374 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Tyr474*}" "Germline" "" "" "0" "" "" "g.26482563A>T" "" "pathogenic" "" "0000367383" "11" "99" "2" "26705309" "26705309" "subst" "1.62607E-5" "02416" "OTOF_000092" "g.26705309A>G" "0/178 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "heterozygous, {MSV3dQ9HC10:p.Ile515Thr}" "Germline" "" "" "0" "" "" "g.26482441A>G" "" "pathogenic" "" "0000367384" "11" "99" "2" "26705309" "26705309" "subst" "1.62607E-5" "02416" "OTOF_000093" "g.26705309A>G" "0/178 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "heterozygous, {MSV3dQ9HC10:p.Ile515Thr}" "Germline" "" "" "0" "" "" "g.26482441A>G" "" "pathogenic" "" "0000367385" "0" "99" "2" "26705288" "26705303" "del" "0" "02416" "OTOF_000003" "g.26705288_26705303del" "" "{PMID:Romanos et al., 2009:19461658}" "" "c.1552_1567del16" "Heterozygous" "Germline" "" "" "0" "" "" "g.26482420_26482435del" "" "pathogenic" "" "0000367386" "0" "99" "2" "26703858" "26703858" "del" "0" "02416" "OTOF_000069" "g.26703858del" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "c.1601delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.26480990del" "" "pathogenic" "" "0000367387" "0" "99" "2" "26703858" "26703858" "del" "0" "02416" "OTOF_000071" "g.26703858del" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "c.1601delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.26480990del" "" "pathogenic" "" "0000367388" "3" "99" "2" "26703836" "26703836" "subst" "8.16473E-6" "02416" "OTOF_000140" "g.26703836C>T" "0/376" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "homozygous, {MSV3dQ9HC10:p.Gly541Ser}" "Germline" "" "" "0" "" "" "g.26480968C>T" "" "pathogenic" "" "0000367389" "0" "99" "2" "26703718" "26703718" "del" "0" "02416" "OTOF_000021" "g.26703718del" "0/184 controls" "{PMID:Wang et al,.2010:20504331}" "" "c.1740delC" "" "Germline" "" "" "0" "" "" "g.26480850del" "" "pathogenic" "" "0000367390" "0" "99" "2" "26703677" "26703677" "subst" "0" "02416" "OTOF_000022" "g.26703677C>T" "0/184 controls" "{PMID:Wang et al,.2010:20504331}" "" "" "{MSV3dQ9HC10:p.Glu594Lys}" "Germline" "" "" "0" "" "" "g.26480809C>T" "" "pathogenic" "" "0000367391" "3" "99" "2" "26703850" "26703850" "subst" "0" "02416" "OTOF_000110" "g.26703850C>T" "0/272" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26480982C>T" "" "pathogenic" "" "0000367392" "3" "99" "2" "26703739" "26703739" "subst" "0" "02416" "OTOF_000113" "g.26703739A>C" "0/272" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous, {MSV3dQ9HC10:p.Leu573Arg}" "Germline" "" "" "0" "" "" "g.26480871A>C" "" "pathogenic" "" "0000367393" "0" "99" "2" "26703142" "26703142" "subst" "0" "02416" "OTOF_000008" "g.26703142C>T" "" "{PMID:Romanos et al., 2009:19461658}" "" "" "heterozygous, {MSV3dQ9HC10:p.Gly614Glu}" "Germline" "" "" "0" "" "" "g.26480274C>T" "" "pathogenic" "" "0000367394" "21" "99" "2" "26703096" "26703097" "dup" "0" "02416" "OTOF_000089" "g.26703096_26703097dup" "0/188 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26480228_26480229dup" "" "pathogenic" "" "0000367395" "21" "99" "2" "26703096" "26703097" "dup" "0" "02416" "OTOF_000091" "g.26703096_26703097dup" "0/188 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26480228_26480229dup" "" "pathogenic" "" "0000367396" "1" "99" "2" "26704453" "26704453" "del" "0" "02416" "OTOF_000142" "g.26704453del" "0/192" "{PMID:Matsunaga et al,.2012:22575033}" "" "c.1946-1965del20" "Heterozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367397" "0" "15" "2" "26702468" "26702468" "subst" "8.1658E-6" "02416" "OTOF_000104" "g.26702468G>A" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "+BstNI;+PspGI;" "" "heterozygous, {MSV3dQ9HC10:p.Arg656Trp}" "Germline" "" "" "0" "" "" "g.26479600G>A" "" "VUS" "ACMG" "0000367398" "3" "99" "2" "26702457" "26702457" "dup" "0" "02416" "OTOF_000181" "g.26702457dup" "" "{PMID:Mahdieh et al,.2012:22906306}" "" "c.1981dupG" "homozygous" "Germline" "" "" "0" "" "" "g.26479589dup" "" "pathogenic" "" "0000367399" "1" "99" "2" "26702343" "26702343" "subst" "0" "02416" "OTOF_000135" "g.26702343G>A" "" "{PMID:Zadro et al,.2010:20211493}" "" "" "Heterozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367400" "21" "99" "2" "26702251" "26702251" "subst" "0" "02416" "OTOF_000094" "g.26702251C>A" "0/188 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "Heterozygous\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367401" "21" "99" "2" "26702251" "26702251" "subst" "0" "02416" "OTOF_000095" "g.26702251C>A" "0/188 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "Heterozygous\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367402" "0" "99" "2" "26702224" "26702224" "subst" "3.27305E-5" "02416" "OTOF_000059" "g.26702224G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26479356G>A" "" "pathogenic" "" "0000367403" "2" "99" "2" "26702195" "26702195" "subst" "0" "02416" "OTOF_000171" "g.26702195C>T" "0/344 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26479327C>T" "" "pathogenic" "" "0000367404" "0" "77" "2" "26702166" "26702166" "subst" "0.000298381" "02416" "OTOF_000128" "g.26702166T>C" "1/152 controls" "{PMID:Wang et al,.2011:21935370}" "" "" "" "Germline" "" "" "0" "" "" "g.26479298T>C" "" "likely pathogenic" "ACMG" "0000367405" "0" "99" "2" "26702166" "26702166" "subst" "0.000298381" "02416" "OTOF_000176" "g.26702166T>C" "1/320 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Asn727Ser}" "Germline" "" "" "0" "" "" "g.26479298T>C" "" "pathogenic" "" "0000367406" "0" "99" "2" "26702166" "26702166" "subst" "0.000298381" "02416" "OTOF_000177" "g.26702166T>C" "1/320 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Asn727Ser}" "Germline" "" "" "0" "" "" "g.26479298T>C" "" "pathogenic" "" "0000367407" "21" "99" "2" "26702131" "26702131" "subst" "0" "02416" "OTOF_000183" "g.26702131C>A" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "Heterozygous" "Germline" "" "rs80356589" "0" "" "" "g.26479263C>A" "" "pathogenic" "" "0000367408" "3" "99" "2" "26700593" "26700593" "subst" "4.07395E-6" "02416" "OTOF_000083" "g.26700593C>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26477725C>A" "" "pathogenic" "" "0000367409" "0" "99" "2" "26700376" "26700391" "dup" "0" "02416" "OTOF_000185" "g.26700376_26700391dup" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26477508_26477523dup" "" "pathogenic" "" "0000367410" "3" "99" "2" "26700538" "26700540" "del" "0" "02416" "OTOF_000112" "g.26700538_26700540del" "0/208" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26477670_26477672del" "" "pathogenic" "" "0000367411" "3" "33" "2" "26700493" "26700493" "subst" "0.0193754" "02416" "OTOF_000120" "g.26700493C>T" "4/138" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26477625C>T" "" "likely benign" "ACMG" "0000367412" "3" "33" "2" "26700403" "26700403" "subst" "0.00158563" "02416" "OTOF_000122" "g.26700403G>A" "1/184" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26477535G>A" "" "likely benign" "ACMG" "0000367413" "3" "33" "2" "26700403" "26700403" "subst" "0.00158563" "02416" "OTOF_000122" "g.26700403G>A" "1/184" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26477535G>A" "" "likely benign" "ACMG" "0000367414" "0" "11" "2" "26700373" "26700373" "subst" "0.015274" "02416" "OTOF_000016" "g.26700373G>A" "" "{PMIDDe Keulenaer et al,.2012:De Keulenaer et al,.2012}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg773Cys}" "Germline" "" "rs80356569" "0" "" "" "g.26477505G>A" "" "benign" "" "0000367415" "0" "99" "2" "26700344" "26700344" "del" "0" "02416" "OTOF_000006" "g.26700344del" "" "{PMID:Romanos et al., 2009:19461658}" "" "c.2348delG" "Heterozygous" "Germline" "" "rs80356591" "0" "" "" "g.26477476del" "" "pathogenic" "" "0000367416" "0" "99" "2" "26700344" "26700344" "del" "0" "02416" "OTOF_000041" "g.26700344del" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "c.2348delG" "Heterozygous" "Germline" "" "rs80356591" "0" "" "" "g.26477476del" "" "pathogenic" "" "0000367417" "11" "99" "2" "26700344" "26700344" "del" "0" "02416" "OTOF_000088" "g.26700344del" "0/184 controls" "{PMID:Varga et al,.2005:16371502}" "" "c.2348delG" "Heterozygous" "Germline" "" "rs80356591" "0" "" "" "g.26477476del" "" "pathogenic" "" "0000367418" "0" "99" "2" "26700344" "26700344" "del" "0" "02416" "OTOF_000006" "g.26700344del" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "c.2348delG" "Heterozygous" "Germline" "" "rs80356591" "0" "" "" "g.26477476del" "" "pathogenic" "" "0000367419" "0" "99" "2" "26700309" "26700309" "subst" "0.00112488" "02416" "OTOF_000098" "g.26700309C>T" "0/160 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg794His}" "Germline" "" "" "0" "" "" "g.26477441C>T" "" "pathogenic" "" "0000367420" "0" "99" "2" "26700309" "26700309" "subst" "0.00112488" "02416" "OTOF_000099" "g.26700309C>T" "0/172 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg794His}" "Germline" "" "" "0" "" "" "g.26477441C>T" "" "pathogenic" "" "0000367421" "0" "99" "2" "26700309" "26700309" "subst" "0.00112488" "02416" "OTOF_000100" "g.26700309C>T" "0/172 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg794His}" "Germline" "" "" "0" "" "" "g.26477441C>T" "" "pathogenic" "" "0000367422" "21" "99" "2" "26700374" "26700374" "subst" "0" "02416" "OTOF_000138" "g.26700374G>T" "" "{PMID:Zadro et al,.2010:20211493}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26477506G>T" "" "pathogenic" "" "0000367423" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000012" "g.26700078G>A" "" "{PMID:Rouillon et al., 2006:16226319}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367424" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000012" "g.26700078G>A" "" "{PMID:Rouillon et al., 2006:16226319}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367425" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000025" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367426" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000026" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367427" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000027" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367428" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000028" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367429" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000029" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367430" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000030" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367431" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000031" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367432" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000032" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367433" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000033" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367434" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000034" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367435" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000035" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367436" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000036" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367437" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000037" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367438" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000038" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367439" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000039" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367440" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000040" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367441" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000042" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367442" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000045" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367443" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000047" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367444" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000049" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367445" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000051" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367446" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000053" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367447" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000055" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367448" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000057" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367449" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000058" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367450" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000060" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367451" "3" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000063" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367452" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000064" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367453" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000073" "g.26700078G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367454" "11" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000084" "g.26700078G>A" "0/172 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367455" "11" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000086" "g.26700078G>A" "0/172 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367456" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000096" "g.26700078G>A" "0/172 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367457" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000097" "g.26700078G>A" "0/172 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367458" "0" "99" "2" "26700078" "26700078" "subst" "0.000170953" "02416" "OTOF_000012" "g.26700078G>A" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "Heterozygous" "Germline" "" "rs80356593" "0" "" "" "g.26477210G>A" "" "pathogenic" "" "0000367459" "3" "33" "2" "26700051" "26700051" "subst" "0.000724777" "02416" "OTOF_000125" "g.26700051G>A" "3/188" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26477183G>A" "" "likely benign" "ACMG" "0000367460" "0" "99" "2" "26699786" "26699786" "subst" "0" "02416" "OTOF_000050" "g.26699786G>T" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26476918G>T" "" "pathogenic" "" "0000367461" "0" "99" "2" "26699178" "26699179" "del" "0" "02416" "OTOF_000046" "g.26699178_26699179del" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "c.2684_2685delGG" "Heterozygous" "Germline" "" "" "0" "" "" "g.26476310_26476311del" "" "pathogenic" "" "0000367462" "0" "99" "2" "26699127" "26699130" "dup" "0" "02416" "OTOF_000080" "g.26699127_26699130dup" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "c.2732_2735dupAGCT" "Heterozygous" "Germline" "" "" "0" "" "" "g.26476259_26476262dup" "" "pathogenic" "" "0000367463" "0" "99" "2" "26698901" "26698901" "subst" "0" "02416" "OTOF_000184" "g.26698901G>A" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26476033G>A" "" "pathogenic" "" "0000367464" "0" "99" "2" "26698882" "26698882" "subst" "0" "02416" "OTOF_000081" "g.26698882G>T" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "heterozygous, {MSV3dQ9HC10:p.Ala964Glu}" "Germline" "" "" "0" "" "" "g.26476014G>T" "" "pathogenic" "" "0000367465" "0" "99" "2" "0" "0" "delins" "0" "02416" "OTOF_000002" "g.?" "" "{PMID:Romanos et al., 2009:19461658}" "" "c.2905_2923del19ins11" "Heterozygous" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367466" "0" "99" "2" "26698850" "26698868" "delins" "0" "02416" "OTOF_000061" "g.26698850_26698868delinsTGCGCTCGGAG" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26475982_26476000delinsTGCGCTCGGAG" "" "pathogenic" "" "0000367467" "0" "99" "2" "26698850" "26698868" "delins" "0" "02416" "OTOF_000065" "g.26698850_26698868delinsTGCGCTCGGAG" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26475982_26476000delinsTGCGCTCGGAG" "" "pathogenic" "" "0000367468" "0" "99" "2" "26698850" "26698868" "delins" "0" "02416" "OTOF_000068" "g.26698850_26698868delinsTGCGCTCGGAG" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26475982_26476000delinsTGCGCTCGGAG" "" "pathogenic" "" "0000367469" "0" "99" "2" "26698850" "26698868" "delins" "0" "02416" "OTOF_000070" "g.26698850_26698868delinsTGCGCTCGGAG" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26475982_26476000delinsTGCGCTCGGAG" "" "pathogenic" "" "0000367470" "0" "99" "2" "26698795" "26698798" "del" "0" "02416" "OTOF_000023" "g.26698795_26698798del" "0/184 controls" "{PMIDPMID20504331:Wang et al,.2010}" "" "c.2975_2978delAG" "Heterozygous" "Germline" "" "" "0" "" "" "g.26475927_26475930del" "" "pathogenic" "" "0000367471" "0" "99" "2" "26697430" "26697430" "subst" "0" "02416" "OTOF_000009" "g.26697430C>G" "" "{PMID:Romanos et al., 2009:19461658}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1080Pro}" "Germline" "" "" "0" "" "" "g.26474562C>G" "" "pathogenic" "" "0000367472" "0" "99" "2" "26697406" "26697406" "subst" "0" "02416" "OTOF_000014" "g.26697406A>G" "" "{PMID:De Keulenaer et al,.2012:22607986}" "" "" "heterozygous, {MSV3dQ9HC10:p.Leu1088Pro}" "Germline" "" "" "0" "" "" "g.26474538A>G" "" "pathogenic" "" "0000367473" "3" "99" "2" "26697400" "26697400" "subst" "0" "02416" "OTOF_000114" "g.26697400G>T" "0/320" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous, {MSV3dQ9HC10:p.Ala1090Glu}" "Germline" "" "" "0" "" "" "g.26474532G>T" "" "pathogenic" "" "0000367474" "3" "99" "2" "26696867" "26696867" "subst" "1.62775E-5" "02416" "OTOF_000004" "g.26696867G>A" "" "{PMID:Romanos et al., 2009:19461658}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26473999G>A" "" "pathogenic" "" "0000367475" "0" "99" "2" "26696867" "26696867" "subst" "1.62775E-5" "02416" "OTOF_000074" "g.26696867G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26473999G>A" "" "pathogenic" "" "0000367476" "0" "99" "2" "26696867" "26696867" "subst" "1.62775E-5" "02416" "OTOF_000077" "g.26696867G>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26473999G>A" "" "pathogenic" "" "0000367477" "21" "99" "2" "26696861" "26696861" "subst" "0" "02416" "OTOF_000085" "g.26696861T>G" "0/184 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "Heterozygous\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367478" "21" "99" "2" "26696861" "26696861" "subst" "0" "02416" "OTOF_000087" "g.26696861T>G" "0/184 controls" "{PMID:Varga et al,.2005:16371502}" "" "" "Heterozygous\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367479" "0" "99" "2" "26696431" "26696431" "subst" "0" "02416" "OTOF_000072" "g.26696431A>G" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "heterozygous, {MSV3dQ9HC10:p.Leu1138Pro}" "Germline" "" "" "0" "" "" "g.26473563A>G" "" "pathogenic" "" "0000367480" "0" "99" "2" "26696431" "26696431" "subst" "0" "02416" "OTOF_000075" "g.26696431A>G" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "heterozygous, {MSV3dQ9HC10:p.Leu1138Pro}" "Germline" "" "" "0" "" "" "g.26473563A>G" "" "pathogenic" "" "0000367481" "0" "77" "2" "26696272" "26696272" "subst" "0" "02416" "OTOF_000129" "g.26696272A>G" "1/152 controls" "{PMID:Wang et al,.2011:21935370}" "" "" "" "Germline" "" "" "0" "" "" "g.26473404A>G" "" "likely pathogenic" "ACMG" "0000367482" "0" "11" "2" "26696096" "26696097" "del" "0" "02416" "OTOF_000015" "g.26696096_26696097del" "" "{PMIDDe Keulenaer et al,.2012:De Keulenaer et al,.2012}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26473228_26473229del" "" "benign" "" "0000367483" "2" "99" "2" "26696024" "26696039" "del" "0" "02416" "OTOF_000136" "g.26696024_26696039del" "" "{PMID:Zadro et al,.2010:20211493}" "" "c.3704del16" "Heterozygous" "Germline" "" "" "0" "" "" "g.26473156_26473171del" "" "pathogenic" "" "0000367484" "0" "77" "2" "26691333" "26691333" "subst" "0" "02416" "OTOF_000130" "g.26691333C>T" "1/152" "{PMID:Wang et al,.2011:21935370}" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000367485" "11" "99" "2" "26691336" "26691336" "subst" "0" "02416" "OTOF_000182" "g.26691336G>A" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26468468G>A" "" "pathogenic" "" "0000367486" "0" "99" "2" "26690357" "26690357" "subst" "0" "02416" "OTOF_000178" "g.26690357G>C" "0/364" "{PMID:Iwasa et al,.2013:24053799}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26467489G>C" "" "pathogenic" "" "0000367487" "3" "99" "2" "26690303" "26690303" "subst" "4.06286E-6" "02416" "OTOF_000017" "g.26690303G>A" "0/288 controls" "{PMID:Shahin et al,.2009:19888295}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26467435G>A" "" "pathogenic" "" "0000367488" "3" "99" "2" "26690303" "26690303" "subst" "4.06286E-6" "02416" "OTOF_000018" "g.26690303G>A" "0/288 controls" "{PMID:Shahin et al,.2009:19888295}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26467435G>A" "" "pathogenic" "" "0000367489" "3" "99" "2" "26690303" "26690303" "subst" "4.06286E-6" "02416" "OTOF_000019" "g.26690303G>A" "0/288 controls" "{PMIDShahin et al,.:Shahin et al,.2009}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26467435G>A" "" "pathogenic" "" "0000367490" "0" "99" "2" "26690235" "26690235" "subst" "0" "02416" "OTOF_000106" "g.26690235T>A" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26467367T>A" "" "pathogenic" "" "0000367491" "0" "99" "2" "26690232" "26690232" "subst" "8.12348E-6" "02416" "OTOF_000044" "g.26690232C>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26467364C>A" "" "pathogenic" "" "0000367492" "3" "99" "2" "26690232" "26690232" "subst" "8.12348E-6" "02416" "OTOF_000066" "g.26690232C>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26467364C>A" "" "pathogenic" "" "0000367493" "0" "99" "2" "26690232" "26690232" "subst" "8.12348E-6" "02416" "OTOF_000067" "g.26690232C>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26467364C>A" "" "pathogenic" "" "0000367494" "0" "99" "2" "26689978" "26689978" "subst" "0" "02416" "OTOF_000076" "g.26689978C>A" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26467110C>A" "" "pathogenic" "" "0000367495" "3" "99" "2" "26689591" "26689591" "subst" "0" "02416" "OTOF_000082" "g.26689591A>T" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous, {MSV3dQ9HC10:p.Phe1795Cys}" "Germline" "" "" "0" "" "" "g.26466723A>T" "" "pathogenic" "" "0000367496" "0" "99" "2" "26688886" "26688886" "subst" "5.68514E-5" "02416" "OTOF_000011" "g.26688886C>T" "" "{PMID:Rouillon et al., 2006:16226319}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1520Gln}" "Germline" "" "" "0" "" "" "g.26466018C>T" "" "pathogenic" "" "0000367497" "11" "99" "2" "26688591" "26688591" "subst" "4.06065E-6" "02416" "OTOF_000133" "g.26688591C>T" "" "{PMID:Zhang et al,.2013:24001616}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1583His}" "Germline" "" "" "0" "" "" "g.26465723C>T" "" "pathogenic" "" "0000367498" "2" "99" "2" "26688591" "26688591" "subst" "4.06065E-6" "02416" "OTOF_000169" "g.26688591C>T" "0/366 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1583His}" "Germline" "" "" "0" "" "" "g.26465723C>T" "" "pathogenic" "" "0000367499" "0" "99" "2" "26687878" "26687878" "subst" "0" "02416" "OTOF_000024" "g.26687878G>A" "0/184 controls" "{PMID:Wang et al,.2010:20504331}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1607Trp}" "Germline" "" "" "0" "" "" "g.26465010G>A" "" "pathogenic" "" "0000367500" "0" "99" "2" "26687737" "26687737" "subst" "1.25422E-5" "02416" "OTOF_000005" "g.26687737C>T" "" "{PMID:Romanos et al., 2009:19461658}" "" "" "heterozygous, {MSV3dQ9HC10:p.Gly1654Ser}" "Germline" "" "" "0" "" "" "g.26464869C>T" "" "pathogenic" "" "0000367501" "0" "75" "2" "26686977" "26686977" "subst" "0" "02416" "OTOF_000107" "g.26686977G>C" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26464109G>C" "" "VUS" "ACMG" "0000367502" "3" "99" "2" "26687888" "26687888" "subst" "0.000324381" "02416" "OTOF_000111" "g.26687888G>T" "0/258" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26465020G>T" "" "pathogenic" "" "0000367503" "3" "33" "2" "26687761" "26687761" "subst" "0.0428349" "02416" "OTOF_000123" "g.26687761G>A" "" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26464893G>A" "" "likely benign" "ACMG" "0000367504" "3" "33" "2" "26687761" "26687761" "subst" "0.0428349" "02416" "OTOF_000123" "g.26687761G>A" "" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26464893G>A" "" "likely benign" "ACMG" "0000367505" "0" "99" "2" "26686924" "26686924" "dup" "0" "02416" "OTOF_000056" "g.26686924dup" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "c.5011dupT" "Heterozygous" "Germline" "" "" "0" "" "" "g.26464056dup" "" "pathogenic" "" "0000367506" "0" "77" "2" "26686909" "26686909" "subst" "0.00141633" "02416" "OTOF_000131" "g.26686909G>A" "1/152 controls" "{PMID:Wang et al,.2011:21935370}" "" "" "{MSV3dQ9HC10:p.Arg1676Cys}" "Germline" "" "" "0" "" "" "g.26464041G>A" "" "likely pathogenic" "ACMG" "0000367507" "3" "99" "2" "26685045" "26685045" "subst" "4.06283E-6" "02416" "OTOF_000115" "g.26685045C>T" "1/304" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous, {MSV3dQ9HC10:p.Glu1733Lys}" "Germline" "" "" "0" "" "" "g.26462177C>T" "" "pathogenic" "" "0000367508" "0" "99" "2" "26684765" "26684765" "subst" "1.62429E-5" "02416" "OTOF_000179" "g.26684765C>T" "0/378 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26461897C>T" "" "pathogenic" "" "0000367509" "3" "99" "2" "26684713" "26684713" "subst" "0" "02416" "OTOF_000079" "g.26684713A>C" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "" "homozygous, {MSV3dQ9HC10:p.Phe1795Cys}" "Germline" "" "" "0" "" "" "g.26461845A>C" "" "pathogenic" "" "0000367510" "0" "99" "2" "26684689" "26684689" "subst" "0" "02416" "OTOF_000180" "g.26684689T>G" "0/378 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26461821T>G" "" "pathogenic" "" "0000367511" "0" "99" "2" "26684666" "26684666" "subst" "0" "02416" "OTOF_000010" "g.26684666T>A" "" "{PMID:Romanos et al., 2009:19461658}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26461798T>A" "" "pathogenic" "" "0000367512" "3" "99" "2" "26684713" "26684713" "subst" "0" "02416" "OTOF_000139" "g.26684713A>C" "" "{PMID:Rodríguez-Ballesteros et al,.2003:14635104}" "" "" "homozygous, {MSV3dQ9HC10:p.Phe1795Cys}" "Germline" "" "" "0" "" "" "g.26461845A>C" "" "pathogenic" "" "0000367513" "3" "33" "2" "26684706" "26684706" "subst" "0.0149389" "02416" "OTOF_000121" "g.26684706G>A" "" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26461838G>A" "" "likely benign" "ACMG" "0000367514" "3" "33" "2" "26684706" "26684706" "subst" "0.0149389" "02416" "OTOF_000121" "g.26684706G>A" "" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26461838G>A" "" "likely benign" "ACMG" "0000367515" "2" "99" "2" "26683865" "26683865" "subst" "8.13862E-6" "02416" "OTOF_000162" "g.26683865C>T" "0/380 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460997C>T" "" "pathogenic" "" "0000367516" "21" "99" "2" "26683785" "26683785" "subst" "0" "02416" "OTOF_000132" "g.26683785G>A" "" "{PMID:Zhang et al,.2013:24001616}" "" "" "heterozygous, {MSV3dQ9HC10:p.Gln1883*}" "Germline" "" "" "0" "" "" "g.26460917G>A" "" "pathogenic" "" "0000367517" "0" "99" "2" "26683719" "26683719" "subst" "8.12387E-6" "02416" "OTOF_000013" "g.26683719C>T" "" "{PMID:Rouillon et al., 2006:16226319}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26460851C>T" "" "pathogenic" "" "0000367518" "2" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000164" "g.26683071C>T" "0/382 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367519" "3" "99" "2" "26683865" "26683865" "subst" "8.13862E-6" "02416" "OTOF_000116" "g.26683865C>T" "0/254" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1856Gln}" "Germline" "" "" "0" "" "" "g.26460997C>T" "" "pathogenic" "" "0000367520" "3" "33" "2" "26683777" "26683777" "subst" "0.0460144" "02416" "OTOF_000124" "g.26683777G>A" "" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.26460909G>A" "" "likely benign" "ACMG" "0000367521" "0" "99" "2" "26683543" "26683543" "subst" "0" "02416" "OTOF_000001" "g.26683543T>G" "0/200 controls" "{PMID:Romanos et al., 2009:19461658}" "" "" "heterozygous, {MSV3dQ9HC10:p.Asn1929His}" "Germline" "" "" "0" "" "" "g.26460675T>G" "" "pathogenic" "" "0000367522" "0" "99" "2" "26683532" "26683532" "dup" "0" "02416" "OTOF_000054" "g.26683532dup" "" "{PMID:Rodriguez-Ballesteros et al., 2008:18381613}" "" "c.5800dupC" "Heterozygous" "Germline" "" "" "0" "" "" "g.26460664dup" "" "pathogenic" "" "0000367523" "0" "99" "2" "26683532" "26683532" "dup" "0" "02416" "OTOF_000007" "g.26683532dup" "" "{PMID:Romanos et al., 2009:19461658}" "" "c.5800_5801insC" "Heterozygous" "Germline" "" "" "0" "" "" "g.26460664dup" "" "pathogenic" "" "0000367524" "1" "99" "2" "26684631" "26684631" "subst" "0" "02416" "OTOF_000141" "g.26684631G>C" "0/376" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "heterozygous, {MSV3dQ9HC10:p.5466C>G}" "Germline" "" "" "0" "" "" "g.26461763G>C" "" "pathogenic" "" "0000367525" "2" "99" "2" "26684631" "26684631" "subst" "0" "02416" "OTOF_000147" "g.26684631G>C" "0/192" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26461763G>C" "" "pathogenic" "" "0000367526" "3" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000165" "g.26683071C>T" "0/382 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367527" "3" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000166" "g.26683071C>T" "0/382 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367528" "3" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000167" "g.26683071C>T" "0/382 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367529" "1" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000168" "g.26683071C>T" "0/382 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367530" "1" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000170" "g.26683071C>T" "0/382 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367531" "0" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000172" "g.26683071C>T" "0/382 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367532" "0" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000173" "g.26683071C>T" "0/382 controls" "{PMID:Iwasa et al,.2013:24053799}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367533" "1" "99" "2" "26724678" "26724678" "subst" "0" "02416" "OTOF_000153" "g.26724678T>C" "0/190" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26501810T>C" "" "pathogenic" "" "0000367534" "3" "99" "2" "26683072" "26683072" "subst" "0" "02416" "OTOF_000117" "g.26683072G>A" "0/334" "{PMID:Choi et al,.2008:19250381}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1939Trp}" "Germline" "" "" "0" "" "" "g.26460204G>A" "" "pathogenic" "" "0000367535" "2" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000143" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "{MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367536" "2" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000145" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367537" "1" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000146" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367538" "1" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000148" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367539" "1" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000150" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367540" "1" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000152" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "heterozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367541" "3" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000154" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367542" "3" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000155" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367543" "3" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000156" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367544" "3" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000157" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367545" "3" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000158" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367546" "3" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000159" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367547" "3" "99" "2" "26683071" "26683071" "subst" "5.81999E-5" "02416" "OTOF_000160" "g.26683071C>T" "1/378" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "homozygous, {MSV3dQ9HC10:p.Arg1939Gln}" "Germline" "" "" "0" "" "" "g.26460203C>T" "" "pathogenic" "" "0000367548" "2" "99" "2" "26682895" "26682895" "subst" "0" "02416" "OTOF_000151" "g.26682895A>G" "0/192" "{PMID:Matsunaga et al,.2012:22575033}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.26460027A>G" "" "pathogenic" "" "0000405970" "0" "90" "2" "26717853" "26717853" "dup" "0" "02552" "OTOF_000257" "g.26717853dup" "" "{PMID:Papuc 2019:30552426}" "" "" "" "De novo" "" "" "0" "" "" "g.26494985dup" "" "pathogenic" "" "0000515481" "0" "30" "2" "26676248" "26676248" "subst" "0.000549726" "01804" "CCDC164_000006" "g.26676248T>A" "" "" "" "DRC1(NM_145038.2):c.1750T>A (p.(Ser584Thr)), DRC1(NM_145038.4):c.1750T>A (p.S584T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26453380T>A" "" "likely benign" "" "0000515482" "0" "50" "2" "26683531" "26683531" "subst" "4.06468E-6" "01943" "CCDC164_000007" "g.26683531G>A" "" "" "" "OTOF(NM_194248.2):c.5797C>T (p.P1933S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26460663G>A" "" "VUS" "" "0000515483" "0" "30" "2" "26684618" "26684618" "subst" "0.000255827" "01943" "OTOF_000258" "g.26684618G>T" "" "" "" "OTOF(NM_194248.2):c.5479C>A (p.R1827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26461750G>T" "" "likely benign" "" "0000515484" "0" "10" "2" "26684706" "26684706" "subst" "0.0149389" "02327" "OTOF_000121" "g.26684706G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26461838G>A" "" "benign" "" "0000515485" "0" "50" "2" "26686837" "26686837" "subst" "0" "01943" "OTOF_000259" "g.26686837C>T" "" "" "" "OTOF(NM_194248.2):c.5098G>A (p.E1700K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26463969C>T" "" "VUS" "" "0000515486" "0" "50" "2" "26688697" "26688697" "subst" "0.000402119" "01943" "OTOF_000260" "g.26688697C>T" "" "" "" "OTOF(NM_194248.2):c.4642G>A (p.E1548K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26465829C>T" "" "VUS" "" "0000515487" "0" "50" "2" "26689599" "26689599" "subst" "0.000235527" "01943" "OTOF_000261" "g.26689599G>T" "" "" "" "OTOF(NM_194248.2):c.4483C>A (p.R1495=), OTOF(NM_194248.3):c.4483C>A (p.(Arg1495=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26466731G>T" "" "VUS" "" "0000515488" "0" "50" "2" "26689646" "26689646" "subst" "2.03042E-5" "01943" "OTOF_000262" "g.26689646C>A" "" "" "" "OTOF(NM_194248.2):c.4436G>T (p.G1479V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26466778C>A" "" "VUS" "" "0000515489" "0" "30" "2" "26695378" "26695378" "subst" "1.21905E-5" "01943" "OTOF_000263" "g.26695378C>T" "" "" "" "OTOF(NM_194248.2):c.3864+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26472510C>T" "" "likely benign" "" "0000515490" "0" "50" "2" "26696380" "26696380" "subst" "0.000187633" "01943" "OTOF_000264" "g.26696380C>T" "" "" "" "OTOF(NM_194248.2):c.3464G>A (p.R1155Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26473512C>T" "" "VUS" "" "0000515491" "0" "30" "2" "26699114" "26699114" "subst" "1.67239E-5" "01943" "OTOF_000265" "g.26699114C>T" "" "" "" "OTOF(NM_194248.2):c.2748G>A (p.L916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26476246C>T" "" "likely benign" "" "0000515492" "0" "10" "2" "26700099" "26700099" "subst" "0.0145032" "02325" "OTOF_000266" "g.26700099G>A" "" "" "" "OTOF(NM_194248.3):c.2464C>T (p.R822W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26477231G>A" "" "benign" "" "0000515493" "0" "50" "2" "26700309" "26700309" "subst" "0.00112488" "02325" "OTOF_000098" "g.26700309C>T" "" "" "" "OTOF(NM_194248.2):c.2381G>A (p.R794H), OTOF(NM_194248.3):c.2381G>A (p.R794H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26477441C>T" "" "VUS" "" "0000515494" "0" "30" "2" "26700373" "26700373" "subst" "0.015274" "01804" "OTOF_000016" "g.26700373G>A" "" "" "" "OTOF(NM_004802.3):c.76C>T (p.(Arg26Cys)), OTOF(NM_194248.2):c.2317C>T (p.R773C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26477505G>A" "" "likely benign" "" "0000515495" "0" "30" "2" "26700729" "26700729" "subst" "0" "01943" "OTOF_000267" "g.26700729C>T" "" "" "" "OTOF(NM_194322.2):c.33G>A (p.E11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26477861C>T" "" "likely benign" "" "0000515497" "0" "90" "2" "26702193" "26702193" "subst" "2.45988E-5" "02327" "OTOF_000269" "g.26702193C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26479325C>T" "" "pathogenic" "" "0000515498" "0" "50" "2" "26702223" "26702223" "subst" "0.000994198" "01943" "OTOF_000270" "g.26702223C>T" "" "" "" "OTOF(NM_194248.2):c.2123G>A (p.R708Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26479355C>T" "" "VUS" "" "0000515499" "0" "30" "2" "26702477" "26702477" "subst" "0" "01943" "OTOF_000271" "g.26702477G>A" "" "" "" "OTOF(NM_194248.2):c.1957C>T (p.P653S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26479609G>A" "" "likely benign" "" "0000515500" "0" "50" "2" "26703827" "26703827" "subst" "0.000775175" "01943" "OTOF_000193" "g.26703827G>A" "" "" "" "OTOF(NM_194248.2):c.1630C>T (p.R544C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26480959G>A" "" "VUS" "" "0000515501" "0" "50" "2" "26706399" "26706399" "subst" "0" "01943" "OTOF_000272" "g.26706399C>G" "" "" "" "OTOF(NM_194248.2):c.1323G>C (p.K441N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26483531C>G" "" "VUS" "" "0000515502" "0" "50" "2" "26707412" "26707412" "subst" "0.000134218" "01943" "OTOF_000273" "g.26707412C>T" "" "" "" "OTOF(NM_194248.2):c.1135G>A (p.V379M), OTOF(NM_194248.3):c.1135G>A (p.(Val379Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26484544C>T" "" "VUS" "" "0000515504" "0" "50" "2" "26739418" "26739418" "subst" "0.000245304" "01943" "OTOF_000275" "g.26739418C>T" "" "" "" "OTOF(NM_194248.2):c.377G>A (p.G126D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26516550C>T" "" "VUS" "" "0000515506" "0" "50" "2" "26741960" "26741960" "subst" "0.000489866" "01943" "OTOF_000276" "g.26741960C>T" "" "" "" "OTOF(NM_194248.2):c.245G>A (p.R82H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26519092C>T" "" "VUS" "" "0000515508" "0" "10" "2" "26741961" "26741961" "subst" "0.405754" "02325" "OTOF_000253" "g.26741961G>A" "" "" "" "OTOF(NM_194248.3):c.244C>T (p.R82C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26519093G>A" "" "benign" "" "0000515509" "0" "10" "2" "26750782" "26750782" "subst" "0.00949442" "01943" "OTOF_000277" "g.26750782G>A" "" "" "" "OTOF(NM_194248.2):c.145C>T (p.R49W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26527914G>A" "" "benign" "" "0000580109" "11" "70" "2" "26697440" "26697440" "subst" "0" "03386" "OTOF_000280" "g.26697440G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.26474572G>A" "" "pathogenic (recessive)" "" "0000580110" "21" "90" "2" "26690368" "26690368" "del" "0" "03386" "OTOF_000278" "g.26690368del" "" "" "" "4093delC" "" "Germline" "yes" "" "0" "" "" "g.26467500del" "" "pathogenic (recessive)" "" "0000580112" "3" "90" "2" "26697413" "26697413" "subst" "0" "03386" "OTOF_000279" "g.26697413C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26474545C>T" "" "pathogenic (recessive)" "" "0000580114" "3" "50" "2" "26702192" "26702192" "subst" "4.10479E-6" "03386" "OTOF_000281" "g.26702192C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26479324C>T" "" "pathogenic (recessive)" "" "0000580209" "11" "50" "2" "26717858" "26717860" "del" "0" "03386" "OTOF_000283" "g.26717858_26717860del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26494990_26494992del" "" "pathogenic (recessive)" "" "0000580210" "21" "90" "2" "26700078" "26700078" "subst" "0.000170953" "03386" "OTOF_000012" "g.26700078G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26477210G>A" "" "pathogenic (recessive)" "" "0000580211" "0" "50" "2" "26712138" "26712138" "subst" "2.04549E-5" "03386" "OTOF_000282" "g.26712138C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26489270C>T" "" "pathogenic (recessive)" "" "0000580212" "0" "50" "2" "26703827" "26703827" "subst" "0.000775175" "03386" "OTOF_000193" "g.26703827G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26480959G>A" "" "pathogenic (recessive)" "" "0000607874" "0" "50" "2" "26705384" "26705384" "subst" "3.65866E-5" "01943" "OTOF_000286" "g.26705384G>T" "" "" "" "OTOF(NM_194248.2):c.1469C>A (p.P490Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26482516G>T" "" "VUS" "" "0000607875" "0" "50" "2" "26712124" "26712124" "subst" "0" "01943" "OTOF_000287" "g.26712124C>G" "" "" "" "OTOF(NM_194248.2):c.1000G>C (p.V334L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26489256C>G" "" "VUS" "" "0000607876" "0" "30" "2" "26739458" "26739458" "subst" "5.83314E-5" "01943" "OTOF_000288" "g.26739458A>G" "" "" "" "OTOF(NM_194248.2):c.337T>C (p.C113R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26516590A>G" "" "likely benign" "" "0000607877" "0" "50" "2" "26750773" "26750773" "subst" "0.000268031" "01943" "OTOF_000289" "g.26750773C>T" "" "" "" "OTOF(NM_194248.2):c.154G>A (p.V52M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26527905C>T" "" "VUS" "" "0000621013" "0" "30" "2" "26683586" "26683586" "subst" "0.00173957" "01943" "CCDC164_000009" "g.26683586C>T" "" "" "" "OTOF(NM_194248.2):c.5742G>A (p.L1914=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26460718C>T" "" "likely benign" "" "0000621014" "0" "50" "2" "26698880" "26698880" "subst" "8.19229E-6" "01943" "OTOF_000284" "g.26698880G>A" "" "" "" "OTOF(NM_194248.2):c.2893C>T (p.H965Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26476012G>A" "" "VUS" "" "0000621015" "0" "30" "2" "26705323" "26705323" "subst" "0.000699159" "01943" "OTOF_000285" "g.26705323G>A" "" "" "" "OTOF(NM_194248.2):c.1530C>T (p.I510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26482455G>A" "" "likely benign" "" "0000650538" "1" "30" "2" "26686909" "26686909" "subst" "0.00141633" "03575" "OTOF_000131" "g.26686909G>A" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs139767460}" "Germline" "" "rs139767460" "0" "" "" "g.26464041G>A" "" "likely benign" "" "0000650539" "1" "30" "2" "26687761" "26687761" "subst" "0.0428349" "03575" "OTOF_000123" "g.26687761G>A" "92/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "92 heterozygous; {DB:CLININrs17005371}" "Germline" "" "rs17005371" "0" "" "" "g.26464893G>A" "" "likely benign" "" "0000650540" "1" "50" "2" "26687875" "26687875" "subst" "0.000109094" "03575" "OTOF_000290" "g.26687875C>A" "7/2751 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs111033425}" "Germline" "" "rs111033425" "0" "" "" "g.26465007C>A" "" "VUS" "" "0000650541" "1" "70" "2" "26688621" "26688621" "subst" "4.06062E-5" "03575" "OTOF_000291" "g.26688621A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "association; 2 heterozygous, no homozygous; {DB:CLININrs111033405}" "Germline" "" "rs111033405" "0" "" "" "g.26465753A>G" "" "likely pathogenic" "" "0000650542" "1" "30" "2" "26695500" "26695500" "subst" "0.0158206" "03575" "OTOF_000231" "g.26695500A>C" "39/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "39 heterozygous, no homozygous; {DB:CLININrs41288773}" "Germline" "" "rs41288773" "0" "" "" "g.26472632A>C" "" "likely benign" "" "0000650543" "1" "30" "2" "26696374" "26696374" "subst" "0.00798699" "03575" "OTOF_000292" "g.26696374C>T" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs56054534}" "Germline" "" "rs56054534" "0" "" "" "g.26473506C>T" "" "likely benign" "" "0000650544" "1" "90" "2" "26698780" "26698780" "subst" "0" "03575" "OTOF_000293" "g.26698780A>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs370132645}" "Germline" "" "rs370132645" "0" "" "" "g.26475912A>C" "" "pathogenic" "" "0000650545" "1" "30" "2" "26700099" "26700099" "subst" "0.0145032" "03575" "OTOF_000266" "g.26700099G>A" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous; {DB:CLININrs80356570}" "Germline" "" "rs80356570" "0" "" "" "g.26477231G>A" "" "likely benign" "" "0000650546" "1" "50" "2" "26700316" "26700316" "subst" "0.000904468" "03575" "OTOF_000206" "g.26700316G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs148532589}" "Germline" "" "rs148532589" "0" "" "" "g.26477448G>A" "" "VUS" "" "0000650547" "1" "90" "2" "26700344" "26700344" "del" "0" "03575" "OTOF_000006" "g.26700344del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs80356591}" "Germline" "" "rs80356591" "0" "" "" "g.26477476del" "" "pathogenic" "" "0000650548" "1" "30" "2" "26700373" "26700373" "subst" "0.015274" "03575" "OTOF_000016" "g.26700373G>A" "77/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "77 heterozygous; {DB:CLININrs80356569}" "Germline" "" "rs80356569" "0" "" "" "g.26477505G>A" "" "likely benign" "" "0000650549" "1" "30" "2" "26702412" "26702412" "subst" "0.0288813" "03575" "OTOF_000247" "g.26702412G>A" "22/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "22 heterozygous, no homozygous; {DB:CLININrs13004993}" "Germline" "" "rs13004993" "0" "" "" "g.26479544G>A" "" "likely benign" "" "0000650550" "1" "50" "2" "26703073" "26703073" "subst" "0.000162727" "03575" "OTOF_000294" "g.26703073A>G" "3/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs111033351}" "Germline" "" "rs111033351" "0" "" "" "g.26480205A>G" "" "VUS" "" "0000650551" "1" "50" "2" "26703817" "26703817" "subst" "0.000558718" "03575" "OTOF_000295" "g.26703817G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs200191563}" "Germline" "" "rs200191563" "0" "" "" "g.26480949G>A" "" "VUS" "" "0000650552" "1" "50" "2" "26705429" "26705429" "subst" "0.00181763" "03575" "OTOF_000296" "g.26705429T>C" "4/2726 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs111033396}" "Germline" "" "rs111033396" "0" "" "" "g.26482561T>C" "" "VUS" "" "0000650553" "1" "30" "2" "26707353" "26707353" "subst" "0.000207565" "03575" "OTOF_000020" "g.26707353A>T" "8/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs181805996}" "Germline" "" "rs181805996" "0" "" "" "g.26484485A>T" "" "likely benign" "" "0000650554" "1" "50" "2" "26739290" "26739290" "subst" "0.00190823" "03575" "OTOF_000218" "g.26739290G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs61744348}" "Germline" "" "rs61744348" "0" "" "" "g.26516422G>A" "" "VUS" "" "0000650555" "1" "10" "2" "26750782" "26750782" "subst" "0.00949442" "03575" "OTOF_000277" "g.26750782G>A" "44/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "44 heterozygous, no homozygous; {DB:CLININrs61746568}" "Germline" "" "rs61746568" "0" "" "" "g.26527914G>A" "" "benign" "" "0000654612" "0" "50" "2" "26700315" "26700315" "subst" "0.000702703" "01943" "OTOF_000298" "g.26700315C>T" "" "" "" "OTOF(NM_194248.2):c.2375G>A (p.R792Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26477447C>T" "" "VUS" "" "0000659646" "3" "90" "2" "26697477" "26697477" "subst" "4.06812E-6" "03607" "OTOF_000297" "g.26697477G>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.26474609G>C" "" "pathogenic (recessive)" "" "0000659746" "3" "90" "2" "26697477" "26697477" "subst" "4.06812E-6" "03607" "OTOF_000297" "g.26697477G>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.26474609G>C" "" "likely benign" "" "0000668118" "11" "90" "2" "26705307" "26705309" "dup" "0" "03386" "OTOF_000299" "g.26705307_26705309dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26482439_26482441dup" "" "pathogenic (recessive)" "" "0000668119" "21" "90" "2" "26700141" "26700141" "subst" "0" "03386" "OTOF_000300" "g.26700141G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.26477273G>A" "" "pathogenic (recessive)" "" "0000668122" "1" "90" "2" "26725169" "26725169" "subst" "4.47184E-5" "03386" "OTOF_000251" "g.26725169G>A" "" "{PMID:[Houseman]:[2001]}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26502301G>A" "" "pathogenic (recessive)" "" "0000668123" "2" "90" "2" "26703763" "26703763" "subst" "0" "03386" "OTOF_000301" "g.26703763A>G" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.26480895A>G" "" "pathogenic (recessive)" "" "0000668124" "1" "90" "2" "26703093" "26703093" "dup" "0" "03386" "OTOF_000303" "g.26703093dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26480227dup" "" "pathogenic (recessive)" "" "0000668125" "2" "90" "2" "26683796" "26683796" "subst" "0" "03386" "OTOF_000302" "g.26683796G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26460928G>T" "" "pathogenic (recessive)" "" "0000668130" "1" "90" "2" "26700342" "26700342" "del" "0" "03386" "OTOF_000304" "g.26700342delC" "" "{PMID:[Varga]:[2006]}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26477476del" "" "pathogenic (recessive)" "" "0000668131" "2" "90" "2" "26698879" "26698879" "subst" "0" "03386" "OTOF_000305" "g.26698879T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26476011T>G" "" "pathogenic (recessive)" "" "0000668132" "1" "90" "2" "26696294" "26696295" "ins" "4.0656E-6" "03386" "OTOF_000306" "g.26696294_26696295insTT" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26473426_26473427insTT" "" "pathogenic (recessive)" "" "0000668133" "2" "90" "2" "26687878" "26687878" "subst" "0" "03386" "OTOF_000024" "g.26687878G>A" "" "{PMID:[Wang]:[2010]}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26465010G>A" "" "pathogenic (recessive)" "" "0000668134" "1" "90" "2" "26702224" "26702224" "subst" "3.27305E-5" "03386" "OTOF_000059" "g.26702224G>A" "" "{PMID:[Rodriguez]:[2003]}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26479356G>A" "" "pathogenic (recessive)" "" "0000668135" "2" "90" "2" "26681086" "26681086" "subst" "3.37876E-5" "03386" "OTOF_000307" "g.26681086C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26458218C>T" "" "pathogenic (recessive)" "" "0000669629" "3" "30" "2" "26687761" "26687761" "subst" "0.0428349" "03575" "OTOF_000123" "g.26687761G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs17005371}" "Germline" "" "rs17005371" "0" "" "" "g.26464893G>A" "" "likely benign" "" "0000669630" "3" "30" "2" "26700099" "26700099" "subst" "0.0145032" "03575" "OTOF_000266" "g.26700099G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs80356570}" "Germline" "" "rs80356570" "0" "" "" "g.26477231G>A" "" "likely benign" "" "0000669631" "3" "30" "2" "26700373" "26700373" "subst" "0.015274" "03575" "OTOF_000016" "g.26700373G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs80356569}" "Germline" "" "rs80356569" "0" "" "" "g.26477505G>A" "" "likely benign" "" "0000676600" "0" "30" "2" "26684643" "26684643" "subst" "1.2182E-5" "01943" "OTOF_000312" "g.26684643G>A" "" "" "" "OTOF(NM_194248.2):c.5454C>T (p.D1818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676601" "0" "50" "2" "26688865" "26688865" "subst" "4.06072E-6" "01943" "OTOF_000313" "g.26688865C>T" "" "" "" "OTOF(NM_194248.2):c.4580G>A (p.R1527H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676602" "0" "50" "2" "26689619" "26689619" "subst" "0.00070251" "01943" "OTOF_000314" "g.26689619T>A" "" "" "" "OTOF(NM_194248.2):c.4463A>T (p.D1488V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676603" "0" "50" "2" "26689986" "26689986" "subst" "2.44139E-5" "01943" "OTOF_000315" "g.26689986C>T" "" "" "" "OTOF(NM_194248.2):c.4343G>A (p.R1448H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676604" "0" "30" "2" "26781389" "26781389" "subst" "0.000630107" "01943" "C2orf70_000001" "g.26781389G>A" "" "" "" "OTOF(NM_194248.2):c.51C>T (p.G17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684736" "0" "30" "2" "26686837" "26686837" "subst" "0.000486187" "00004" "OTOF_000316" "g.26686837C>G" "frequency 0.015" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "likely benign" "" "0000688724" "0" "50" "2" "26683543" "26683543" "subst" "0" "01943" "OTOF_000001" "g.26683543T>G" "" "" "" "OTOF(NM_194248.2):c.5785A>C (p.N1929H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688725" "0" "50" "2" "26686384" "26686384" "subst" "0.000521421" "01943" "OTOF_000317" "g.26686384G>A" "" "" "" "OTOF(NM_194248.2):c.5159C>T (p.T1720M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688726" "0" "30" "2" "26689725" "26689725" "subst" "0.000125913" "01943" "OTOF_000318" "g.26689725C>T" "" "" "" "OTOF(NM_194248.2):c.4363-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688727" "0" "30" "2" "26725238" "26725238" "subst" "4.06511E-6" "01943" "OTOF_000319" "g.26725238C>T" "" "" "" "OTOF(NM_194248.2):c.640G>A (p.D214N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000712175" "0" "90" "2" "26700042" "26700042" "subst" "1.67224E-5" "03611" "OTOF_000323" "g.26700042C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2_P, PM3_VS, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.26477174C>T" "" "pathogenic (recessive)" "ACMG" "0000712225" "0" "90" "2" "26698321" "26698321" "subst" "0" "03611" "OTOF_000320" "g.26698321A>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PM3_VS, PP1, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.26475453A>G" "" "pathogenic (recessive)" "ACMG" "0000712226" "0" "50" "2" "26683537" "26683537" "subst" "4.06415E-6" "03611" "OTOF_000321" "g.26683537G>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.26460669G>T" "" "VUS" "ACMG" "0000712822" "1" "50" "2" "26698882" "26698882" "subst" "1.6398E-5" "00000" "OTOF_000322" "g.26698882G>A" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "" "0" "" "" "g.26476014G>A" "" "VUS" "" "0000712823" "2" "50" "2" "26700288" "26700289" "delins" "0" "00000" "OTOF_000324" "g.26700288_26700289delinsAA" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "rs111033392" "0" "" "" "g.26477420_26477421delinsAA" "" "VUS" "" "0000718709" "0" "50" "2" "26676248" "26676248" "subst" "0.000549726" "01943" "CCDC164_000006" "g.26676248T>A" "" "" "" "DRC1(NM_145038.2):c.1750T>A (p.(Ser584Thr)), DRC1(NM_145038.4):c.1750T>A (p.S584T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718710" "0" "30" "2" "26684574" "26684574" "subst" "8.53957E-5" "01943" "CCDC164_000011" "g.26684574G>A" "" "" "" "OTOF(NM_194248.2):c.5523C>T (p.D1841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718711" "0" "90" "2" "26689965" "26689965" "subst" "0" "01943" "OTOF_000325" "g.26689965A>G" "" "" "" "OTOF(NM_194248.2):c.4362+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718712" "0" "90" "2" "26696054" "26696054" "subst" "8.15215E-6" "01943" "OTOF_000326" "g.26696054G>A" "" "" "" "OTOF(NM_194248.2):c.3679C>T (p.R1227*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718713" "0" "90" "2" "26696921" "26696921" "subst" "4.0704E-6" "01943" "OTOF_000327" "g.26696921G>A" "" "" "" "OTOF(NM_194248.2):c.3346C>T (p.R1116*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718714" "0" "30" "2" "26717879" "26717879" "subst" "3.65527E-5" "01943" "OTOF_000328" "g.26717879G>A" "" "" "" "OTOF(NM_194248.2):c.828C>T (p.C276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718715" "0" "30" "2" "26725224" "26725224" "subst" "2.84527E-5" "01943" "OTOF_000329" "g.26725224G>A" "" "" "" "OTOF(NM_194248.2):c.654C>T (p.P218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000795483" "1" "90" "2" "26698304" "26698304" "subst" "0" "04006" "OTOF_000331" "g.26698304C>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792221}" "pathogenic (recessive)" "ACMG" "0000795484" "2" "90" "2" "26696867" "26696867" "subst" "1.62775E-5" "04006" "OTOF_000004" "g.26696867G>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792222}" "pathogenic (recessive)" "ACMG" "0000795485" "1" "90" "2" "26698304" "26698304" "subst" "0" "04006" "OTOF_000331" "g.26698304C>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792221}" "pathogenic (recessive)" "ACMG" "0000795486" "2" "90" "2" "26696867" "26696867" "subst" "1.62775E-5" "04006" "OTOF_000004" "g.26696867G>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000795487" "0" "90" "2" "26702193" "26702193" "subst" "2.45988E-5" "04006" "OTOF_000269" "g.26702193C>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Unknown" "?" "" "" "" "" "" "{CV-SCV:001792223}" "pathogenic (recessive)" "ACMG" "0000795488" "0" "70" "2" "26696935" "26696935" "subst" "6.51195E-5" "04006" "OTOF_000330" "g.26696935G>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Unknown" "?" "" "" "" "" "" "{CV-SCV:001792224}" "pathogenic (recessive)" "ACMG" "0000798378" "0" "50" "2" "26739289" "26739289" "subst" "0.000113962" "03779" "OTOF_000333" "g.26739289C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs149701372" "0" "" "" "" "" "VUS" "" "0000798379" "0" "10" "2" "26686896" "26686896" "subst" "0.00085947" "03779" "OTOF_000332" "g.26686896C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs11893228" "0" "" "" "" "" "benign" "" "0000800546" "0" "50" "2" "26696404" "26696404" "subst" "0" "01943" "OTOF_000334" "g.26696404C>T" "" "" "" "OTOF(NM_194248.2):c.3440G>A (p.R1147Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800547" "0" "30" "2" "26699003" "26699003" "subst" "0.000194063" "01943" "OTOF_000335" "g.26699003G>A" "" "" "" "OTOF(NM_194248.2):c.2859C>T (p.V953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800548" "0" "50" "2" "26707421" "26707421" "subst" "1.62658E-5" "01943" "OTOF_000336" "g.26707421C>T" "" "" "" "OTOF(NM_194248.2):c.1126G>A (p.D376N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800549" "0" "30" "2" "26712172" "26712172" "subst" "0" "01943" "OTOF_000337" "g.26712172C>T" "" "" "" "OTOF(NM_194248.2):c.961-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800550" "0" "50" "2" "26725208" "26725208" "subst" "1.62537E-5" "01943" "OTOF_000338" "g.26725208C>A" "" "" "" "OTOF(NM_194248.2):c.670G>T (p.A224S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800551" "0" "30" "2" "26726692" "26726692" "subst" "1.62429E-5" "01943" "OTOF_000339" "g.26726692G>A" "" "" "" "OTOF(NM_194248.2):c.531C>T (p.S177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800552" "0" "50" "2" "26739428" "26739428" "subst" "0" "01943" "OTOF_000340" "g.26739428C>G" "" "" "" "OTOF(NM_194248.2):c.367G>C (p.G123R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000830855" "1" "70" "2" "26685039" "26685039" "del" "4.06223E-6" "00006" "OTOF_000341" "g.26685039del" "" "{PMID:Choi 2013:23990876}" "" "NM_194322:3133delC" "" "Germline" "" "" "0" "" "" "g.26462171del" "" "likely pathogenic (recessive)" "" "0000830870" "2" "70" "2" "26697477" "26697477" "subst" "4.06812E-6" "00006" "OTOF_000297" "g.26697477G>C" "" "{PMID:Choi 2013:23990876}" "" "NM_194322:C1122G" "" "Germline" "" "" "0" "" "" "g.26474609G>C" "" "likely pathogenic (recessive)" "" "0000849837" "0" "50" "2" "26684678" "26684678" "subst" "9.74548E-5" "01943" "OTOF_000342" "g.26684678C>T" "" "" "" "OTOF(NM_194248.2):c.5419G>A (p.V1807I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849838" "0" "50" "2" "26700617" "26700617" "subst" "0" "01943" "OTOF_000343" "g.26700617C>T" "" "" "" "OTOF(NM_194248.2):c.2215G>A (p.E739K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849839" "0" "30" "2" "26739348" "26739348" "subst" "6.50137E-5" "01943" "OTOF_000344" "g.26739348C>T" "" "" "" "OTOF(NM_194248.2):c.447G>A (p.T149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858470" "0" "30" "2" "26680920" "26680920" "subst" "0" "01943" "CCDC164_000014" "g.26680920G>A" "" "" "" "OTOF(NM_001287489.1):c.5982C>T (p.L1994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870185" "10" "50" "2" "26741873" "26741873" "subst" "0.000250071" "02416" "OTOF_000345" "g.26741873C>A" "" "Vaché et al., submitted" "" "" "" "Germline" "no" "" "0" "" "" "g.26519005C>A" "" "VUS" "ACMG" "0000870192" "0" "55" "2" "26741873" "26741873" "subst" "0.000250071" "02416" "OTOF_000345" "g.26741873C>A" "" "Vahcé et al., submitted" "" "" "" "Germline" "no" "" "0" "" "" "g.26519005C>A" "" "VUS" "ACMG" "0000870194" "21" "55" "2" "26741873" "26741873" "subst" "0.000250071" "02416" "OTOF_000345" "g.26741873C>A" "" "Vaché et al., submitted" "" "" "" "Germline" "no" "" "0" "" "" "g.26519005C>A" "" "VUS" "ACMG" "0000874710" "1" "50" "2" "26689619" "26689619" "subst" "0.00070251" "00006" "OTOF_000314" "g.26689619T>A" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000874711" "0" "50" "2" "26690232" "26690232" "subst" "8.12348E-6" "00006" "OTOF_000044" "g.26690232C>A" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000909461" "3" "90" "2" "26707496" "26707496" "subst" "0" "04147" "OTOF_000346" "g.26707496G>A" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs1558492758" "0" "" "" "g.26484628G>A" "" "pathogenic (recessive)" "ACMG" "0000909462" "3" "90" "2" "26705372" "26705374" "del" "0" "04147" "OTOF_000347" "g.26705372_26705374del" "" "{PMID:Wonkam 2022:35440622}" "" "" "affected individuals are homozygous, both parents are heterozygous, an unaffected sibling is heterozygous as well" "Germline" "yes" "" "0" "" "" "g.26482504_26482506del" "" "pathogenic (recessive)" "ACMG" "0000909785" "3" "70" "2" "26700373" "26700373" "subst" "0.015274" "00006" "OTOF_000016" "g.26700373G>A" "" "{PMID:Taghipour-Sheshdeh 2019:29752989}" "" "R773C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000911672" "0" "30" "2" "26688863" "26688863" "subst" "0.000337037" "02325" "OTOF_000348" "g.26688863C>T" "" "" "" "OTOF(NM_194248.3):c.4582G>A (p.D1528N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911673" "0" "50" "2" "26689647" "26689647" "subst" "0.000158368" "02325" "OTOF_000349" "g.26689647C>T" "" "" "" "OTOF(NM_194248.3):c.4435G>A (p.G1479S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911674" "0" "50" "2" "26693568" "26693573" "dup" "0" "02325" "OTOF_000350" "g.26693568_26693573dup" "" "" "" "OTOF(NM_194248.3):c.3925_3930dupAAGAAG (p.K1309_K1310dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000943881" "3" "90" "2" "26725169" "26725169" "subst" "4.47184E-5" "00006" "OTOF_000251" "g.26725169G>A" "" "{PMID:Ammar-Khodja 2015:26029705}" "" "699C>T: p.(Arg237*)" "" "Germline" "yes" "" "0" "" "" "g.26502301G>A" "" "pathogenic (recessive)" "" "0000943882" "3" "90" "2" "26702224" "26702224" "subst" "3.27305E-5" "00006" "OTOF_000059" "g.26702224G>A" "" "{PMID:Ammar-Khodja 2015:26029705}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26479356G>A" "" "pathogenic (recessive)" "" "0000943907" "1" "70" "2" "26683617" "26683617" "subst" "1.62787E-5" "00006" "OTOF_000353" "g.26683617T>C" "" "{PMID:Sang 2019:31379920}" "" "" "" "Germline" "" "" "0" "" "" "g.26460749T>C" "" "likely pathogenic (recessive)" "ACMG" "0000943920" "2" "90" "2" "26685045" "26685045" "subst" "4.06283E-6" "00006" "OTOF_000115" "g.26685045C>T" "" "{PMID:Sang 2019:31379920}" "" "" "" "Germline" "" "" "0" "" "" "g.26462177C>T" "" "pathogenic (recessive)" "ACMG" "0000944146" "3" "70" "2" "26705303" "26705303" "subst" "0" "00006" "OTOF_000360" "g.26705303A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.26482435A>G" "" "likely pathogenic (recessive)" "ACMG" "0000944147" "3" "70" "2" "26705303" "26705303" "subst" "0" "00006" "OTOF_000360" "g.26705303A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.26482435A>G" "" "likely pathogenic (recessive)" "ACMG" "0000944148" "3" "70" "2" "26703079" "26703079" "subst" "0" "00006" "OTOF_000359" "g.26703079A>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.26480211A>T" "" "likely pathogenic (recessive)" "ACMG" "0000944149" "3" "90" "2" "26702224" "26702224" "subst" "3.27305E-5" "00006" "OTOF_000059" "g.26702224G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.26479356G>A" "" "pathogenic (recessive)" "" "0000944150" "3" "90" "2" "26687888" "26687888" "subst" "0.000324381" "00006" "OTOF_000111" "g.26687888G>T" "" "{PMID:Richard 2019: 30303587}" "" "NM_004802.3:c.2508C>A (Tyr836*)" "" "Germline" "" "" "0" "" "" "g.26465020G>T" "" "pathogenic (recessive)" "" "0000944151" "3" "90" "2" "26685045" "26685045" "subst" "4.06283E-6" "00006" "OTOF_000115" "g.26685045C>T" "" "{PMID:Richard 2019: 30303587}" "" "NM_004802.3:c.2896G>A (Glu966Lys)" "" "Germline" "" "" "0" "" "" "g.26462177C>T" "" "pathogenic (recessive)" "" "0000944152" "3" "90" "2" "26698811" "26698813" "del" "0" "00006" "OTOF_000358" "g.26698811_26698813del" "" "{PMID:Richard 2019: 30303587}" "" "2965_2967delTTC" "" "Germline" "" "" "0" "" "" "g.26475943_26475945del" "" "pathogenic (recessive)" "" "0000944153" "3" "90" "2" "26696891" "26696891" "dup" "0" "00006" "OTOF_000356" "g.26696891dup" "" "{PMID:Richard 2019: 30303587}" "" "3376dupA" "" "Germline" "" "" "0" "" "" "g.26474023dup" "" "pathogenic (recessive)" "ACMG" "0000944154" "3" "70" "2" "26681087" "26681087" "subst" "0" "00006" "OTOF_000351" "g.26681087G>A" "" "{PMID:Richard 2019: 30303587}" "" "NM_194323.2:c.3514C>T (Arg1172Trp)" "" "Germline" "" "" "0" "" "" "g.26458219G>A" "" "likely pathogenic (recessive)" "ACMG" "0000944155" "3" "90" "2" "26688539" "26688539" "subst" "8.12328E-6" "00006" "OTOF_000355" "g.26688539C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.26465671C>T" "" "pathogenic (recessive)" "ACMG" "0000944156" "3" "70" "2" "26683614" "26683614" "subst" "0" "00006" "OTOF_000352" "g.26683614C>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.26460746C>A" "" "likely pathogenic (recessive)" "ACMG" "0000944505" "3" "90" "2" "26698811" "26698813" "del" "0" "00006" "OTOF_000358" "g.26698811_26698813del" "" "{PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.26475943_26475945del" "" "pathogenic (recessive)" "" "0000944506" "3" "90" "2" "26696979" "26696979" "subst" "4.07667E-6" "00006" "OTOF_000357" "g.26696979C>A" "" "{PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.26474111C>A" "" "pathogenic (recessive)" "" "0000944507" "3" "90" "2" "26687892" "26687892" "subst" "0" "00006" "OTOF_000354" "g.26687892C>A" "" "{PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.26465024C>A" "" "pathogenic (recessive)" "" "0000972013" "3" "70" "2" "26696436" "26696436" "subst" "0" "04656" "OTOF_000361" "g.26696436C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.26473568C>T" "" "likely pathogenic" "" "0000975182" "0" "50" "2" "26683721" "26683721" "subst" "0.000117799" "02327" "CCDC164_000018" "g.26683721G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975183" "0" "50" "2" "26686384" "26686384" "subst" "0.000521421" "02327" "OTOF_000317" "g.26686384G>A" "" "" "" "OTOF(NM_194248.2):c.5159C>T (p.T1720M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975184" "0" "30" "2" "26689599" "26689599" "subst" "0.000235527" "01804" "OTOF_000261" "g.26689599G>T" "" "" "" "OTOF(NM_194248.2):c.4483C>A (p.R1495=), OTOF(NM_194248.3):c.4483C>A (p.(Arg1495=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013713" "0" "50" "2" "26686872" "26686872" "subst" "0.00124682" "02325" "OTOF_000196" "g.26686872G>A" "" "" "" "OTOF(NM_194248.2):c.5063C>T (p.T1688M), OTOF(NM_194248.3):c.5063C>T (p.T1688M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013714" "0" "50" "2" "26702462" "26702462" "subst" "8.16807E-6" "02325" "OTOF_000362" "g.26702462C>G" "" "" "" "OTOF(NM_194248.3):c.1972G>C (p.E658Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013715" "0" "50" "2" "26703755" "26703755" "subst" "8.15874E-6" "02327" "OTOF_000363" "g.26703755G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013716" "0" "50" "2" "26760642" "26760642" "subst" "0" "02327" "OTOF_000364" "g.26760642C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024567" "0" "30" "2" "26700289" "26700289" "subst" "0.00822653" "02325" "OTOF_000365" "g.26700289C>A" "" "" "" "OTOF(NM_194248.3):c.2401G>T (p.E801*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033231" "0" "30" "2" "26678108" "26678108" "subst" "8.19498E-5" "01804" "CCDC164_000024" "g.26678108G>A" "" "" "" "DRC1(NM_145038.5):c.2166+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033232" "0" "30" "2" "26696444" "26696444" "subst" "0" "01804" "OTOF_000366" "g.26696444G>C" "" "" "" "OTOF(NM_194248.3):c.3409-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033233" "0" "50" "2" "26700047" "26700047" "subst" "6.26991E-5" "01804" "OTOF_000367" "g.26700047G>A" "" "" "" "OTOF(NM_194248.3):c.2516C>T (p.(Ala839Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033234" "0" "50" "2" "26707412" "26707412" "subst" "0.000134218" "01804" "OTOF_000273" "g.26707412C>T" "" "" "" "OTOF(NM_194248.2):c.1135G>A (p.V379M), OTOF(NM_194248.3):c.1135G>A (p.(Val379Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044747" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044748" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044749" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044750" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044751" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044752" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044753" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044754" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044755" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044756" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044757" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044758" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044759" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044760" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044761" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044762" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044763" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044764" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044765" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044766" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044767" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044768" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044769" "20" "90" "2" "26685045" "26685045" "subst" "4.06283E-6" "00006" "OTOF_000115" "g.26685045C>T" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM1, PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.26462177C>T" "" "pathogenic (recessive)" "ACMG" "0001044770" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044771" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044772" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2018:28766844}, {PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044773" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044774" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Wu 2019:31581539}, {PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044775" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044776" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044777" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044778" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044779" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044780" "1" "50" "2" "26693460" "26693460" "subst" "0.000893401" "00006" "OTOF_000377" "g.26693460C>T" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PVS1, BA1, PM3, PP4; unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26470592C>T" "" "VUS" "ACMG" "0001044781" "1" "70" "2" "26684955" "26684955" "subst" "0" "00006" "OTOF_000372" "g.26684955T>C" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM1, PM2, PP3, PP4; unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.26462087T>C" "" "likely pathogenic (recessive)" "ACMG" "0001044782" "1" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; unknown variant 2nd chromosome; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044783" "1" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; unknown variant 2nd chromosome; variant NM_001287489.2:c.5975A>G (Lys1992Arg) not detected" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044784" "1" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; unknown variant 2nd chromosome; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044785" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis (seems required for pathogenicity) only on one allele" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044786" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis (seems required for pathogenicity) only on one allele" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044787" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis (seems required for pathogenicity) only on one allele" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044788" "3" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "ACMG PM3_VS, PP1_S, PP3, PP4; variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis (seems required for pathogenicity) not present" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044789" "20" "90" "2" "26700553" "26700553" "subst" "0" "00006" "OTOF_000380" "g.26700553A>G" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26477685A>G" "" "pathogenic (recessive)" "ACMG" "0001044790" "20" "70" "2" "26686935" "26686935" "subst" "8.13656E-6" "00006" "OTOF_000374" "g.26686935G>T" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26464067G>T" "" "likely pathogenic (recessive)" "ACMG" "0001044791" "20" "70" "2" "26700042" "26700042" "subst" "1.67224E-5" "00006" "OTOF_000323" "g.26700042C>T" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26477174C>T" "" "likely pathogenic (recessive)" "ACMG" "0001044792" "20" "70" "2" "26700042" "26700042" "subst" "1.67224E-5" "00006" "OTOF_000323" "g.26700042C>T" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26477174C>T" "" "likely pathogenic (recessive)" "ACMG" "0001044793" "20" "90" "2" "26686975" "26686975" "subst" "0" "00006" "OTOF_000375" "g.26686975C>T" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26464107C>T" "" "pathogenic (recessive)" "ACMG" "0001044794" "20" "50" "2" "26693460" "26693460" "subst" "0.000893401" "00006" "OTOF_000377" "g.26693460C>T" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26470592C>T" "" "VUS" "ACMG" "0001044795" "20" "90" "2" "26693984" "26693984" "subst" "0" "00006" "OTOF_000378" "g.26693984C>G" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26471116C>G" "" "pathogenic (recessive)" "ACMG" "0001044796" "20" "90" "2" "26691336" "26691336" "subst" "0" "00006" "OTOF_000182" "g.26691336G>A" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26468468G>A" "" "pathogenic (recessive)" "ACMG" "0001044797" "20" "90" "2" "26683866" "26683866" "subst" "2.84921E-5" "00006" "OTOF_000370" "g.26683866G>A" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26460998G>A" "" "pathogenic (recessive)" "ACMG" "0001044798" "20" "70" "2" "26700042" "26700042" "subst" "1.67224E-5" "00006" "OTOF_000323" "g.26700042C>T" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26477174C>T" "" "likely pathogenic (recessive)" "ACMG" "0001044799" "10" "90" "2" "26686837" "26686837" "subst" "0.000486187" "00006" "OTOF_000316" "g.26686837C>G" "" "{PMID:Lin 2025:40346465}" "" "" "variant NM_001287489.2:c.5975A>G (Lys1992Arg) in cis seems required for pathogenicity" "Germline" "" "" "0" "" "" "g.26463969C>G" "" "pathogenic (!)" "ACMG" "0001044800" "20" "70" "2" "26685039" "26685039" "subst" "4.06246E-6" "00006" "OTOF_000373" "g.26685039G>A" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26462171G>A" "" "likely pathogenic (recessive)" "ACMG" "0001044801" "20" "90" "2" "26705355" "26705355" "subst" "8.12757E-6" "00006" "OTOF_000381" "g.26705355G>A" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26482487G>A" "" "pathogenic (recessive)" "ACMG" "0001044802" "20" "90" "2" "26696024" "26696039" "del" "0" "00006" "OTOF_000136" "g.26696024_26696039del" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26473156_26473171del" "" "pathogenic (recessive)" "ACMG" "0001044803" "20" "70" "2" "26684762" "26684762" "subst" "0" "00006" "OTOF_000371" "g.26684762G>A" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26461894G>A" "" "likely pathogenic (recessive)" "ACMG" "0001044804" "20" "90" "2" "26696024" "26696039" "del" "0" "00006" "OTOF_000136" "g.26696024_26696039del" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26473156_26473171del" "" "pathogenic (recessive)" "ACMG" "0001044805" "20" "90" "2" "26695387" "26695387" "subst" "0" "00006" "OTOF_000379" "g.26695387C>T" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26472519C>T" "" "pathogenic (recessive)" "ACMG" "0001044806" "20" "70" "2" "26700042" "26700042" "subst" "1.67224E-5" "00006" "OTOF_000323" "g.26700042C>T" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26477174C>T" "" "likely pathogenic (recessive)" "ACMG" "0001044807" "20" "70" "2" "26688944" "26688944" "subst" "8.12532E-6" "00006" "OTOF_000376" "g.26688944C>T" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26466076C>T" "" "likely pathogenic (recessive)" "ACMG" "0001044808" "20" "90" "2" "26683513" "26683513" "subst" "0" "00006" "OTOF_000369" "g.26683513A>G" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26460645A>G" "" "pathogenic (recessive)" "ACMG" "0001044809" "20" "70" "2" "26688944" "26688944" "subst" "8.12532E-6" "00006" "OTOF_000376" "g.26688944C>T" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26466076C>T" "" "likely pathogenic (recessive)" "ACMG" "0001044810" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044811" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044812" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044813" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044814" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044815" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044816" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044817" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044818" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044819" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044820" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044821" "3" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044822" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044823" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044824" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044825" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044826" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044827" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044828" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044829" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044830" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044831" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044832" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044833" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044834" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044835" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044836" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044837" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044838" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044839" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044840" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044841" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044842" "10" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044843" "1" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044844" "1" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044845" "1" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044846" "1" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044847" "1" "90" "2" "26680927" "26680927" "subst" "5.70065E-5" "00006" "OTOF_000368" "g.26680927T>C" "" "{PMID:Lin 2025:40346465}" "" "NM_001287489.2:c.5975A>G (Lys1992Arg)" "" "Germline" "" "" "0" "" "" "g.26458059T>C" "" "pathogenic (recessive)" "ACMG" "0001044848" "20" "30" "2" "26685039" "26685039" "subst" "4.06246E-6" "00006" "OTOF_000373" "g.26685039G>A" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26462171G>A" "" "likely benign" "" "0001044849" "20" "30" "2" "26684762" "26684762" "subst" "0" "00006" "OTOF_000371" "g.26684762G>A" "" "{PMID:Lin 2025:40346465}" "" "" "" "Germline" "" "" "0" "" "" "g.26461894G>A" "" "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 OTOF ## Count = 524 "{{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}}" "0000089816" "00024110" "90" "4227" "1" "4227" "1" "c.4227+1G>T" "r.spl" "p.?" "34" "0000089817" "00024110" "90" "5193" "0" "5193" "0" "c.5193G>A" "r.spl?" "p.(?)" "42" "0000089975" "00024110" "50" "2846" "0" "2846" "0" "c.2846C>A" "r.(?)" "p.(Pro949His)" "23" "0000089976" "00024110" "50" "1630" "0" "1630" "0" "c.1630C>T" "r.(?)" "p.(Arg544Cys)" "15" "0000254519" "00024110" "30" "2215" "-77" "2215" "-77" "c.2215-77T>G" "r.(=)" "p.(=)" "" "0000254667" "00024110" "30" "2215" "-80" "2215" "-80" "c.2215-80T>C" "r.(=)" "p.(=)" "" "0000296694" "00024110" "10" "2736" "0" "2736" "0" "c.2736G>C" "r.(?)" "p.(Leu912=)" "" "0000296695" "00024110" "10" "2215" "-83" "2215" "-83" "c.2215-83C>T" "r.(=)" "p.(=)" "" "0000304850" "00024110" "30" "2215" "-19" "2215" "-19" "c.2215-19C>G" "r.(=)" "p.(=)" "" "0000304851" "00024110" "30" "1413" "0" "1413" "0" "c.1413G>A" "r.(?)" "p.(Lys471=)" "" "0000304852" "00024110" "50" "1855" "0" "1855" "0" "c.1855G>A" "r.(?)" "p.(Ala619Thr)" "" "0000304853" "00024110" "30" "2025" "0" "2025" "0" "c.2025G>A" "r.(?)" "p.(Glu675=)" "" "0000304854" "00024110" "50" "2252" "0" "2252" "0" "c.2252C>T" "r.(?)" "p.(Thr751Met)" "" "0000304855" "00024110" "10" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Arg773Cys)" "" "0000304856" "00024110" "50" "2374" "0" "2374" "0" "c.2374C>T" "r.(?)" "p.(Arg792Trp)" "" "0000304857" "00024110" "70" "2381" "0" "2381" "0" "c.2381G>A" "r.(?)" "p.(Arg794His)" "" "0000304858" "00024110" "50" "2465" "0" "2465" "0" "c.2465G>A" "r.(?)" "p.(Arg822Gln)" "" "0000304859" "00024110" "30" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Thr99=)" "" "0000304860" "00024110" "30" "3363" "0" "3363" "0" "c.3363C>T" "r.(?)" "p.(Pro1121=)" "" "0000304861" "00024110" "50" "3428" "0" "3428" "0" "c.3428G>A" "r.(?)" "p.(Arg1143Gln)" "" "0000304862" "00024110" "50" "3454" "0" "3454" "0" "c.3454C>A" "r.(?)" "p.(Gln1152Lys)" "" "0000304863" "00024110" "30" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Gly123Ser)" "" "0000304864" "00024110" "50" "3966" "0" "3966" "0" "c.3966C>G" "r.(?)" "p.(Asp1322Glu)" "" "0000304865" "00024110" "50" "4820" "0" "4820" "0" "c.4820G>A" "r.(?)" "p.(Arg1607Gln)" "" "0000304866" "00024110" "50" "5038" "0" "5038" "0" "c.5038C>T" "r.(?)" "p.(Arg1680Cys)" "" "0000304867" "00024110" "10" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Trp)" "" "0000304868" "00024110" "50" "5063" "0" "5063" "0" "c.5063C>T" "r.(?)" "p.(Thr1688Met)" "" "0000304869" "00024110" "50" "5405" "0" "5405" "0" "c.5405C>T" "r.(?)" "p.(Ala1802Val)" "" "0000304870" "00024110" "30" "710" "10" "710" "10" "c.710+10C>T" "r.(=)" "p.(=)" "" "0000304871" "00024110" "30" "898" "-3" "898" "-3" "c.898-3C>T" "r.spl?" "p.?" "" "0000337640" "00024110" "30" "4800" "-11" "4800" "-11" "c.4800-11C>T" "r.(=)" "p.(=)" "" "0000337641" "00024110" "10" "2315" "16" "2315" "16" "c.2315+16C>T" "r.(=)" "p.(=)" "" "0000337642" "00024110" "50" "2214" "27" "2214" "27" "c.2214+27G>A" "r.(=)" "p.(=)" "" "0000337643" "00024110" "30" "2093" "19" "2093" "19" "c.2093+19C>T" "r.(=)" "p.(=)" "" "0000337644" "00024110" "10" "766" "-3" "766" "-3" "c.766-3C>T" "r.spl?" "p.?" "" "0000337645" "00024110" "10" "710" "10" "710" "10" "c.710+10C>T" "r.(=)" "p.(=)" "" "0000337646" "00024110" "10" "-120" "0" "-120" "0" "c.-120G>T" "r.(?)" "p.(=)" "" "0000339775" "00024110" "10" "5655" "0" "5655" "0" "c.5655C>T" "r.(?)" "p.(Arg1885=)" "" "0000339776" "00024110" "30" "4767" "0" "4767" "0" "c.4767C>T" "r.(?)" "p.(Arg1589=)" "" "0000339777" "00024110" "10" "4677" "0" "4677" "0" "c.4677G>A" "r.(?)" "p.(Val1559=)" "" "0000339778" "00024110" "30" "3156" "0" "3156" "0" "c.3156C>T" "r.(?)" "p.(Phe1052=)" "" "0000339779" "00024110" "10" "2829" "0" "2829" "0" "c.2829C>T" "r.(?)" "p.(Gly943=)" "" "0000339780" "00024110" "10" "2736" "0" "2736" "0" "c.2736G>C" "r.(?)" "p.(Leu912=)" "" "0000339781" "00024110" "10" "2703" "0" "2703" "0" "c.2703G>A" "r.(?)" "p.(Ser901=)" "" "0000339782" "00024110" "10" "2613" "0" "2613" "0" "c.2613C>T" "r.(?)" "p.(Leu871=)" "" "0000339783" "00024110" "10" "2580" "0" "2580" "0" "c.2580C>G" "r.(?)" "p.(Val860=)" "" "0000339784" "00024110" "10" "2022" "0" "2022" "0" "c.2022C>T" "r.(?)" "p.(Asp674=)" "" "0000339785" "00024110" "10" "372" "0" "372" "0" "c.372A>G" "r.(?)" "p.(Thr124=)" "" "0000340769" "00024110" "10" "2025" "0" "2025" "0" "c.2025G>A" "r.(?)" "p.(Glu675=)" "" "0000341080" "00024110" "10" "945" "0" "945" "0" "c.945G>A" "r.(?)" "p.(Lys315=)" "" "0000341110" "00024110" "10" "3247" "0" "3247" "0" "c.3247G>C" "r.(?)" "p.(Ala1083Pro)" "" "0000341491" "00024110" "10" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Ala53Val)" "" "0000341743" "00024110" "90" "3400" "0" "3400" "0" "c.3400C>T" "r.(?)" "p.(Arg1134Ter)" "" "0000342098" "00024110" "50" "5375" "0" "5375" "0" "c.5375G>A" "r.(?)" "p.(Arg1792His)" "" "0000342357" "00024110" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Ter)" "" "0000342469" "00024110" "70" "791" "0" "791" "0" "c.791G>C" "r.(?)" "p.(Arg264Pro)" "" "0000343286" "00024110" "90" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Arg708Ter)" "" "0000343354" "00024110" "10" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Arg773Cys)" "" "0000343371" "00024110" "50" "2381" "0" "2381" "0" "c.2381G>A" "r.(?)" 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"18i" "0000367401" "00024110" "99" "2094" "1" "2094" "1" "c.2094+1G>T" "r.(=)" "p.(?)" "18i" "0000367402" "00024110" "99" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Arg708*)" "18" "0000367403" "00024110" "99" "2151" "0" "2151" "0" "c.2151G>A" "r.(?)" "p.(Trp717*)" "18" "0000367404" "00024110" "77" "2180" "0" "2180" "0" "c.2180A>G" "r.(?)" "p.(Asn727Ser)" "18" "0000367405" "00024110" "99" "2180" "0" "2180" "0" "c.2180A>G" "r.(?)" "p.(Asn727Ser)" "18" "0000367406" "00024110" "99" "2180" "0" "2180" "0" "c.2180A>G" "r.(?)" "p.(Asn727Ser)" "18" "0000367407" "00024110" "99" "2214" "1" "2214" "1" "c.2214+1G>T" "r.spl" "p.?" "18i" "0000367408" "00024110" "99" "2239" "0" "2239" "0" "c.2239G>T" "r.(?)" "p.(Glu747*)" "19" "0000367409" "00024110" "99" "2316" "-15" "2316" "0" "c.2316-15_2316dup" "r.spl" "p.?" "19i_19" "0000367410" "00024110" "99" "2296" "0" "2298" "0" "c.2296_2298del" "r.(?)" "p.(Glu766del)" "20" "0000367411" "00024110" "33" "2315" "24" "2315" "24" "c.2315+24G>A" "r.(?)" "p.(=)" "20i" "0000367412" "00024110" "33" "2316" "-29" "2316" "-29" "c.2316-29C>T" "r.(?)" "p.(=)" "20i" "0000367413" "00024110" "33" "2316" "-29" "2316" "-29" "c.2316-29C>T" "r.(?)" "p.(=)" "20i" "0000367414" "00024110" "11" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Arg773Cys)" "20" "0000367415" "00024110" "99" "2348" "0" "2348" "0" "c.2348del" "r.(?)" "p.(Gly783Alafs*17)" "20" "0000367416" "00024110" "99" "2348" "0" "2348" "0" "c.2348del" "r.(?)" "p.(Gly783Alafs*17)" "20" "0000367417" "00024110" "99" "2348" "0" "2348" "0" "c.2348del" "r.(?)" "p.(Gly783Alafs*17)" "20" "0000367418" "00024110" "99" "2348" "0" "2348" "0" "c.2348del" "r.(?)" "p.(Gly783Alafs*17)" "20" "0000367419" "00024110" "99" "2381" "0" "2381" "0" "c.2381G>A" "r.(?)" "p.(Arg794His)" "20" "0000367420" "00024110" "99" "2381" "0" "2381" "0" "c.2381G>A" "r.(?)" "p.(Arg794His)" "20" "0000367421" "00024110" "99" "2381" "0" "2381" "0" "c.2381G>A" "r.(?)" 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"p.(Ala964Glu)" "24" "0000367465" "00024110" "99" "2905" "0" "2923" "0" "c.2905_2923delins(11)" "r.(?)" "p.(Ala969fs)" "24" "0000367466" "00024110" "99" "2905" "0" "2923" "0" "c.2905_2923delinsCTCCGAGCGCA" "r.(?)" "p.(Ala969Leufs*30)" "24" "0000367467" "00024110" "99" "2905" "0" "2923" "0" "c.2905_2923delinsCTCCGAGCGCA" "r.(?)" "p.(Ala969Leufs*30)" "24" "0000367468" "00024110" "99" "2905" "0" "2923" "0" "c.2905_2923delinsCTCCGAGCGCA" "r.(?)" "p.(Ala969Leufs*30)" "24" "0000367469" "00024110" "99" "2905" "0" "2923" "0" "c.2905_2923delinsCTCCGAGCGCA" "r.(?)" "p.(Ala969Leufs*30)" "24" "0000367470" "00024110" "99" "2975" "0" "2978" "0" "c.2975_2978del" "r.(?)" "p.(Gln994Valfs*6)" "24" "0000367471" "00024110" "99" "3239" "0" "3239" "0" "c.3239G>C" "r.(?)" "p.(Arg1080Pro)" "26" "0000367472" "00024110" "99" "3263" "0" "3263" "0" "c.3263T>C" "r.(?)" "p.(Leu1088Pro)" "26" "0000367473" "00024110" "99" "3269" "0" "3269" "0" "c.3269C>A" "r.(?)" "p.(Ala1090Glu)" "27" "0000367474" "00024110" "99" "3400" "0" "3400" "0" "c.3400C>T" "r.(?)" "p.(Arg1134*)" "27" "0000367475" "00024110" "99" "3400" "0" "3400" "0" "c.3400C>T" "r.(?)" "p.(Arg1134*)" "27" "0000367476" "00024110" "99" "3400" "0" "3400" "0" "c.3400C>T" "r.(?)" "p.(Arg1134*)" "27" "0000367477" "00024110" "99" "3408" "-2" "3408" "-2" "c.3408-2A>C" "r.spl" "p.?" "28i" "0000367478" "00024110" "99" "3408" "-2" "3408" "-2" "c.3408-2A>C" "r.spl" "p.?" "28i" "0000367479" "00024110" "99" "3413" "0" "3413" "0" "c.3413T>C" "r.(?)" "p.(Leu1138Pro)" "28" "0000367480" "00024110" "99" "3413" "0" "3413" "0" "c.3413T>C" "r.(?)" "p.(Leu1138Pro)" "28" "0000367481" "00024110" "77" "3570" "2" "3570" "2" "c.3570+2T>C" "r.(?)" "p.(=)" "28i" "0000367482" "00024110" "11" "3636" "0" "3637" "0" "c.3636_3637del" "r.(?)" "p.(Phe1212fs)" "29" "0000367483" "00024110" "99" "3704" "0" "3719" "0" "c.3704_3719del" "r.(?)" "p.(Asp1235alafs*30)" "30" "0000367484" "00024110" "77" "4032" "1" "4032" "1" "c.4032+1G>A" "r.spl" "p.?" "32i" "0000367485" "00024110" "99" "4030" "0" "4030" "0" "c.4030C>T" "r.(?)" "p.(Arg1344*)" "33" "0000367486" "00024110" "99" "4103" "0" "4103" "0" "c.4103C>G" "r.(?)" "p.(Ser1368*)" "34" "0000367487" "00024110" "99" "4157" "0" "4157" "0" "c.4157C>T" "r.(?)" "p.(Arg577*)" "34" "0000367488" "00024110" "99" "4157" "0" "4157" "0" "c.4157C>T" "r.(?)" "p.(Arg577*)" "34" "0000367489" "00024110" "99" "4157" "0" "4157" "0" "c.4157C>T" "r.(?)" "p.(Arg577*)" "34" "0000367490" "00024110" "99" "4225" "0" "4225" "0" "c.4225A>T" "r.(?)" "p.(Lys1409*)" "34" "0000367491" "00024110" "99" "4227" "1" "4227" "1" "c.4227+1G>T" "r.spl" "p.?" "35i" "0000367492" "00024110" "99" "4227" "1" "4227" "1" "c.4227+1G>T" "r.spl" "p.?" "35i" "0000367493" "00024110" "99" "4227" "1" "4227" "1" "c.4227+1G>T" "r.spl" "p.?" "35i" "0000367494" "00024110" "99" "4351" "0" "4351" "0" "c.4351G>T" "r.(?)" "p.(Gly1451*)" "35" "0000367495" "00024110" "99" "4491" "0" "4491" "0" "c.4491T>A" "r.(?)" "p.(Tyr1497*)" "36" "0000367496" "00024110" "99" "4559" "0" "4559" "0" "c.4559G>A" "r.(?)" "p.(Arg1520Gln)" "37" "0000367497" "00024110" "99" "4748" "0" "4748" "0" "c.4748G>A" "r.(?)" "p.(Arg1583His)" "38" "0000367498" "00024110" "99" "4748" "0" "4748" "0" "c.4748G>A" "r.(?)" "p.(Arg1583His)" "38" "0000367499" "00024110" "99" "4819" "0" "4819" "0" "c.4819C>T" "r.(?)" "p.(Arg1607Trp)" "39" "0000367500" "00024110" "99" "4960" "0" "4960" "0" "c.4960G>A" "r.(?)" "p.(Gly1654Ser)" "39" "0000367501" "00024110" "75" "4961" "-3" "4961" "-3" "c.4961-3C>G" "r.(?)" "p.(?)" "39i" "0000367502" "00024110" "99" "4809" "0" "4809" "0" "c.4809C>A" "r.(?)" "p.(Tyr1603*)" "40" "0000367503" "00024110" "33" "4936" "0" "4936" "0" "c.4936C>T" "r.(?)" "p.(Pro1646Ser)" "40" "0000367504" "00024110" "33" "4936" "0" "4936" "0" "c.4936C>T" "r.(?)" "p.(Pro1646Ser)" "40" "0000367505" "00024110" "99" "5011" "0" "5011" "0" "c.5011dup" "r.(?)" "p.(Trp1671Leufs*73)" "40" "0000367506" "00024110" "77" "5026" "0" "5026" "0" "c.5026C>T" "r.(?)" "p.(Arg1676Cys)" "40" "0000367507" "00024110" "99" "5197" "0" "5197" "0" "c.5197G>A" "r.(?)" "p.(Glu1733Lys)" "43" "0000367508" "00024110" "99" "5332" "0" "5332" "0" "c.5332G>A" "r.(?)" "p.(Val1778Ile)" "43" "0000367509" "00024110" "99" "5384" "0" "5384" "0" "c.5384T>G" "r.(?)" "p.(Phe1795Cys)" "43" "0000367510" "00024110" "99" "5408" "0" "5408" "0" "c.5408A>C" "r.(?)" "p.(Glu1803Ala)" "43" "0000367511" "00024110" "99" "5431" "0" "5431" "0" "c.5431A>T" "r.(?)" "p.(Lys1811*)" "43" "0000367512" "00024110" "99" "5384" "0" "5384" "0" "c.5384T>G" "r.(?)" "p.(Phe1795Cys)" "44" "0000367513" "00024110" "33" "5391" "0" "5391" "0" "c.5391C>T" "r.(?)" "p.(=)" "44" "0000367514" "00024110" "33" "5391" "0" "5391" "0" "c.5391C>T" "r.(?)" "p.(=)" "44" "0000367515" "00024110" "99" "5567" "0" "5567" "0" "c.5567G>A" "r.(?)" "p.(Arg1856Gln)" "44" "0000367516" "00024110" "99" "5647" "0" "5647" "0" "c.5647C>T" "r.(?)" "p.(Gln1883*)" "44" "0000367517" "00024110" "99" "5712" "1" "5712" "1" "c.5712+1G>A" "r.spl" "p.?" "44i" "0000367518" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "44" "0000367519" "00024110" "99" "5567" "0" "5567" "0" "c.5567G>A" "r.(?)" "p.(Arg1856Gln)" "45" "0000367520" "00024110" "33" "5655" "0" "5655" "0" "c.5655C>T" "r.(?)" "p.(=)" "45" "0000367521" "00024110" "99" "5785" "0" "5785" "0" "c.5785A>C" "r.(?)" "p.(Asn1929His)" "45" "0000367522" "00024110" "99" "5800" "0" "5800" "0" "c.5800dup" "r.(?)" "p.(Leu1934Profs*251)" "45" "0000367523" "00024110" "99" "5800" "0" "5800" "0" "c.5800dup" "r.(?)" "p.(Leu1934Profs*251)" "45" "0000367524" "00024110" "99" "5466" "0" "5466" "0" "c.5466C>G" "r.(?)" "p.(Tyr1822*)" "46" "0000367525" "00024110" "99" "5466" "0" "5466" "0" "c.5466C>G" "r.(?)" "p.(Tyr1822*)" "46" "0000367526" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "46" "0000367527" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "46" "0000367528" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "46" "0000367529" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "46" "0000367530" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "46" "0000367531" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "46" "0000367532" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "46" "0000367533" "00024110" "99" "711" "-2" "711" "-2" "c.711-2A>G" "r.spl" "p.?" "47" "0000367534" "00024110" "99" "5815" "0" "5815" "0" "c.5815C>T" "r.(?)" "p.(Arg1939Trp)" "48" "0000367535" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367536" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367537" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367538" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367539" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367540" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367541" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367542" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367543" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367544" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367545" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367546" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367547" "00024110" "99" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "50" "0000367548" "00024110" "99" "5992" "0" "5992" "0" "c.5992T>C" "r.(?)" "p.(*1998Argext*66)" "50" "0000405970" "00024110" "90" "854" "0" "854" "0" "c.854dup" "r.(?)" "p.(Tyr285*)" "" "0000515481" "00024110" "30" "10852" "0" "10852" "0" "c.*4858A>T" "r.(=)" "p.(=)" "" "0000515482" "00024110" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Pro1933Ser)" "" "0000515483" "00024110" "30" "5479" "0" "5479" "0" "c.5479C>A" "r.(?)" "p.(Arg1827=)" "" "0000515484" "00024110" "10" "5391" "0" "5391" "0" "c.5391C>T" "r.(?)" "p.(Phe1797=)" "" "0000515485" "00024110" "50" "5098" "0" "5098" "0" "c.5098G>A" "r.(?)" "p.(Glu1700Lys)" "" "0000515486" "00024110" "50" "4642" "0" "4642" "0" "c.4642G>A" "r.(?)" "p.(Glu1548Lys)" "" "0000515487" "00024110" "50" "4483" "0" "4483" "0" "c.4483C>A" "r.(?)" "p.(Arg1495=)" "" "0000515488" "00024110" "50" "4436" "0" "4436" "0" "c.4436G>T" "r.(?)" "p.(Gly1479Val)" "" "0000515489" "00024110" "30" "3864" "9" "3864" "9" "c.3864+9G>A" "r.(=)" "p.(=)" "" "0000515490" "00024110" "50" "3464" "0" "3464" "0" "c.3464G>A" "r.(?)" "p.(Arg1155Gln)" "" "0000515491" "00024110" "30" "2748" "0" "2748" "0" "c.2748G>A" "r.(?)" "p.(Leu916=)" "" "0000515492" "00024110" "10" "2464" "0" "2464" "0" "c.2464C>T" "r.(?)" "p.(Arg822Trp)" "" "0000515493" "00024110" "50" "2381" "0" "2381" "0" "c.2381G>A" "r.(?)" "p.(Arg794His)" "" "0000515494" "00024110" "30" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Arg773Cys)" "" "0000515495" "00024110" "30" "2215" "-112" "2215" "-112" "c.2215-112G>A" "r.(=)" "p.(=)" "" "0000515497" "00024110" "90" "2153" "0" "2153" "0" "c.2153G>A" "r.(?)" "p.(Trp718Ter)" "" "0000515498" "00024110" "50" "2123" "0" "2123" "0" "c.2123G>A" "r.(?)" "p.(Arg708Gln)" "" "0000515499" "00024110" "30" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Pro653Ser)" "" "0000515500" "00024110" "50" "1630" "0" "1630" "0" "c.1630C>T" "r.(?)" "p.(Arg544Cys)" "" "0000515501" "00024110" "50" "1323" "0" "1323" "0" "c.1323G>C" "r.(?)" "p.(Lys441Asn)" "" "0000515502" "00024110" "50" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Val379Met)" "" "0000515504" "00024110" "50" "377" "0" "377" "0" "c.377G>A" "r.(?)" "p.(Gly126Asp)" "" "0000515506" "00024110" "50" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82His)" "" "0000515508" "00024110" "10" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Cys)" "" "0000515509" "00024110" "10" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000580109" "00024110" "70" "3229" "0" "3229" "0" "c.3229C>T" "r.(?)" "p.(Gln1077*)" "" "0000580110" "00024110" "90" "4093" "0" "4093" "0" "c.4093del" "r.(?)" "p.(Leu1365*)" "" "0000580112" "00024110" "90" "3256" "0" "3256" "0" "c.3256G>A" "r.(?)" "p.(Gly1086Arg)" "" "0000580114" "00024110" "50" "2154" "0" "2154" "0" "c.2154G>A" "r.(?)" "p.(Trp718*)" "" "0000580209" "00024110" "50" "850" "0" "852" "0" "c.850_852del" "r.(?)" "p.(Lys284del)" "" "0000580210" "00024110" "90" "2485" "0" "2485" "0" "c.2485C>T" "r.(?)" "p.(Gln829*)" "" "0000580211" "00024110" "50" "986" "0" "986" "0" "c.986G>A" "r.(?)" "p.(Arg329His)" "" "0000580212" "00024110" "50" "1630" "0" "1630" "0" "c.1630C>T" "r.(?)" "p.(Arg544Cys)" "" "0000607874" "00024110" "50" "1469" "0" "1469" "0" "c.1469C>A" "r.(?)" "p.(Pro490Gln)" "" "0000607875" "00024110" "50" "1000" "0" "1000" "0" "c.1000G>C" "r.(?)" "p.(Val334Leu)" "" "0000607876" "00024110" "30" "337" "0" "337" "0" "c.337T>C" "r.(?)" "p.(Cys113Arg)" "" "0000607877" "00024110" "50" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Val52Met)" "" "0000621013" "00024110" "30" "5742" "0" "5742" "0" "c.5742G>A" "r.(?)" "p.(Leu1914=)" "" "0000621014" "00024110" "50" "2893" "0" "2893" "0" "c.2893C>T" "r.(?)" "p.(His965Tyr)" "" "0000621015" "00024110" "30" "1530" "0" "1530" "0" "c.1530C>T" "r.(?)" "p.(Ile510=)" "" "0000650538" "00024110" "30" "5026" "0" "5026" "0" "c.5026C>T" "r.(?)" "p.(Arg1676Cys)" "" "0000650539" "00024110" "30" "4936" "0" "4936" "0" "c.4936C>T" "r.(?)" "p.(Pro1646Ser)" "" "0000650540" "00024110" "50" "4822" "0" "4822" "0" "c.4822G>T" "r.(?)" "p.(Asp1608Tyr)" "" "0000650541" "00024110" "70" "4718" "0" "4718" "0" "c.4718T>C" "r.(?)" "p.(Ile1573Thr)" "" "0000650542" "00024110" "30" "3751" "0" "3751" "0" "c.3751T>G" "r.(?)" "p.(Cys1251Gly)" "" "0000650543" "00024110" "30" "3470" "0" "3470" "0" "c.3470G>A" "r.(?)" "p.(Arg1157Gln)" "" "0000650544" "00024110" "90" "2991" "2" "2991" "2" "c.2991+2T>G" "r.spl?" "p.?" "" "0000650545" "00024110" "30" "2464" "0" "2464" "0" "c.2464C>T" "r.(?)" "p.(Arg822Trp)" "" "0000650546" "00024110" "50" "2374" "0" "2374" "0" "c.2374C>T" "r.(?)" "p.(Arg792Trp)" "" "0000650547" "00024110" "90" "2348" "0" "2348" "0" "c.2348del" "r.(?)" "p.(Gly783Alafs*17)" "" "0000650548" "00024110" "30" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Arg773Cys)" "" "0000650549" "00024110" "30" "2022" "0" "2022" "0" "c.2022C>T" "r.(=)" "p.(=)" "" "0000650550" "00024110" "50" "1910" "0" "1910" "0" "c.1910T>C" "r.(?)" "p.(Ile637Thr)" "" "0000650551" "00024110" "50" "1640" "0" "1640" "0" "c.1640C>T" "r.(?)" "p.(Thr547Met)" "" "0000650552" "00024110" "50" "1424" "0" "1424" "0" "c.1424A>G" "r.(?)" "p.(Glu475Gly)" "" "0000650553" "00024110" "30" "1194" "0" "1194" "0" "c.1194T>A" "r.(?)" "p.(Asp398Glu)" "" "0000650554" "00024110" "50" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Trp)" "" "0000650555" "00024110" "10" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Trp)" "" "0000654612" "00024110" "50" "2375" "0" "2375" "0" "c.2375G>A" "r.(?)" "p.(Arg792Gln)" "" "0000659646" "00024110" "90" "3192" "0" "3192" "0" "c.3192C>G" "r.(?)" "p.(Tyr1064*)" "" "0000659746" "00024110" "90" "3192" "0" "3192" "0" "c.3192C>G" "r.(?)" "p.(Tyr1064*)" "" "0000668118" "00024110" "90" "1544" "0" "1546" "0" "c.1544_1546dup" "r.(?)" "Ile515_Asp516insVal" "" "0000668119" "00024110" "90" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Gln808*)" "" "0000668122" "00024110" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237*)" "" "0000668123" "00024110" "90" "1694" "0" "1694" "0" "c.1694T>C" "r.(?)" "p.(Phe565Ser)" "" "0000668124" "00024110" "90" "1890" "0" "1890" "0" "c.1890dup" "r.(?)" "p.(Ile631Hisfs*4)" "" "0000668125" "00024110" "90" "5636" "0" "5636" "0" "c.5636C>A" "r.(?)" "p.(Ser1879Tyr)" "" "0000668130" "00024110" "90" "2348" "0" "2348" "0" "c.2348delG" "r.(?)" "p.(Gly783Alafs*17)" "" "0000668131" "00024110" "90" "2894" "0" "2894" "0" "c.2894A>C" "r.(?)" "p.(His965Pro)" "" "0000668132" "00024110" "90" "3549" "0" "3550" "0" "c.3549_3550insAA" "r.(?)" "p.(Leu1184Asnfs*20)" "" "0000668133" "00024110" "90" "4819" "0" "4819" "0" "c.4819C>T" "r.(?)" "p.(Arg1607Trp)" "" "0000668134" "00024110" "90" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Arg708*)" "" "0000668135" "00024110" "90" "6014" "0" "6014" "0" "c.*20G>A" "r.(=)" "p.(=)" "" "0000669629" "00024110" "30" "4936" "0" "4936" "0" "c.4936C>T" "r.(?)" "p.(Pro1646Ser)" "" "0000669630" "00024110" "30" "2464" "0" "2464" "0" "c.2464C>T" "r.(?)" "p.(Arg822Trp)" "" "0000669631" "00024110" "30" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Arg773Cys)" "" "0000676600" "00024110" "30" "5454" "0" "5454" "0" "c.5454C>T" "r.(?)" "p.(Asp1818=)" "" "0000676601" "00024110" "50" "4580" "0" "4580" "0" "c.4580G>A" "r.(?)" "p.(Arg1527His)" "" "0000676602" "00024110" "50" "4463" "0" "4463" "0" "c.4463A>T" "r.(?)" "p.(Asp1488Val)" "" "0000676603" "00024110" "50" "4343" "0" "4343" "0" "c.4343G>A" "r.(?)" "p.(Arg1448His)" "" "0000676604" "00024110" "30" "51" "0" "51" "0" "c.51C>T" "r.(?)" "p.(Gly17=)" "" "0000684736" "00024110" "30" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0000688724" "00024110" "50" "5785" "0" "5785" "0" "c.5785A>C" "r.(?)" "p.(Asn1929His)" "" "0000688725" "00024110" "50" "5159" "0" "5159" "0" "c.5159C>T" "r.(?)" "p.(Thr1720Met)" "" "0000688726" "00024110" "30" "4363" "-6" "4363" "-6" "c.4363-6G>A" "r.(=)" "p.(=)" "" "0000688727" "00024110" "30" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Asp214Asn)" "" "0000712175" "00024110" "90" "2521" "0" "2521" "0" "c.2521G>A" "r.(?)" "p.(Glu841Lys)" "" "0000712225" "00024110" "90" "3032" "0" "3032" "0" "c.3032T>C" "r.(?)" "p.(Leu1011Pro)" "" "0000712226" "00024110" "50" "5791" "0" "5791" "0" "c.5791C>A" "r.(?)" "p.(Pro1931Thr)" "" "0000712822" "00024110" "50" "2891" "0" "2891" "0" "c.2891C>T" "r.(?)" "p.(Ala964Val)" "" "0000712823" "00024110" "50" "2401" "0" "2402" "0" "c.2401_2402delinsTT" "r.(?)" "p.(Glu801Leu)" "" "0000718709" "00024110" "50" "10852" "0" "10852" "0" "c.*4858A>T" "r.(=)" "p.(=)" "" "0000718710" "00024110" "30" "5523" "0" "5523" "0" "c.5523C>T" "r.(?)" "p.(Asp1841=)" "" "0000718711" "00024110" "90" "4362" "2" "4362" "2" "c.4362+2T>C" "r.spl?" "p.?" "" "0000718712" "00024110" "90" "3679" "0" "3679" "0" "c.3679C>T" "r.(?)" "p.(Arg1227*)" "" "0000718713" "00024110" "90" "3346" "0" "3346" "0" "c.3346C>T" "r.(?)" "p.(Arg1116*)" "" "0000718714" "00024110" "30" "828" "0" "828" "0" "c.828C>T" "r.(?)" "p.(Cys276=)" "" "0000718715" "00024110" "30" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(Pro218=)" "" "0000795483" "00024110" "90" "3049" "0" "3049" "0" "c.3049G>T" "r.(?)" "p.(Glu1017*)" "" "0000795484" "00024110" "90" "3400" "0" "3400" "0" "c.3400C>T" "r.(?)" "p.(Arg1134*)" "" "0000795485" "00024110" "90" "3049" "0" "3049" "0" "c.3049G>T" "r.(?)" "p.(Glu1017*)" "" "0000795486" "00024110" "90" "3400" "0" "3400" "0" "c.3400C>T" "r.(?)" "p.(Arg1134*)" "" "0000795487" "00024110" "90" "2153" "0" "2153" "0" "c.2153G>A" "r.(?)" "p.(Trp718*)" "" "0000795488" "00024110" "70" "3332" "0" "3332" "0" "c.3332C>T" "r.(?)" "p.(Pro1111Leu)" "" "0000798378" "00024110" "50" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" "" "0000798379" "00024110" "10" "5039" "0" "5039" "0" "c.5039G>A" "r.(?)" "p.(Arg1680His)" "" "0000800546" "00024110" "50" "3440" "0" "3440" "0" "c.3440G>A" "r.(?)" "p.(Arg1147Gln)" "" "0000800547" "00024110" "30" "2859" "0" "2859" "0" "c.2859C>T" "r.(?)" "p.(Val953=)" "" "0000800548" "00024110" "50" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Asp376Asn)" "" "0000800549" "00024110" "30" "961" "-9" "961" "-9" "c.961-9G>A" "r.(=)" "p.(=)" "" "0000800550" "00024110" "50" "670" "0" "670" "0" "c.670G>T" "r.(?)" "p.(Ala224Ser)" "" "0000800551" "00024110" "30" "531" "0" "531" "0" "c.531C>T" "r.(?)" "p.(Ser177=)" "" "0000800552" "00024110" "50" "367" "0" "367" "0" "c.367G>C" "r.(?)" "p.(Gly123Arg)" "" "0000830855" "00024110" "70" "5203" "0" "5203" "0" "c.5203del" "r.(?)" "p.(Arg1735GlyfsTer28)" "" "0000830870" "00024110" "70" "3192" "0" "3192" "0" "c.3192C>G" "r.(?)" "p.(Tyr1064Ter)" "" "0000849837" "00024110" "50" "5419" "0" "5419" "0" "c.5419G>A" "r.(?)" "p.(Val1807Ile)" "" "0000849838" "00024110" "50" "2215" "0" "2215" "0" "c.2215G>A" "r.(?)" "p.(Glu739Lys)" "" "0000849839" "00024110" "30" "447" "0" "447" "0" "c.447G>A" "r.(?)" "p.(Thr149=)" "" "0000858470" "00024110" "30" "6180" "0" "6180" "0" "c.*186C>T" "r.(=)" "p.(=)" "" "0000870185" "00024110" "50" "327" "5" "327" "5" "c.327+5G>T" "r.spl?" "p.?" "04i" "0000870192" "00024110" "55" "327" "5" "327" "5" "c.327+5G>T" "r.spl?" "p.?" "04i" "0000870194" "00024110" "55" "327" "5" "327" "5" "c.327+5G>T" "r.spl?" "p.?" "04i" "0000874710" "00024110" "50" "4463" "0" "4463" "0" "c.4463A>T" "r.(?)" "p.(Asp1488Val)" "" "0000874711" "00024110" "50" "4227" "1" "4227" "1" "c.4227+1G>T" "r.spl" "p.?" "" "0000909461" "00024110" "90" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Gln351Ter)" "" "0000909462" "00024110" "90" "1479" "0" "1481" "0" "c.1479_1481del" "r.(?)" "p.(Lys493_Arg494delinsAsn)" "" "0000909785" "00024110" "70" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Arg773Cys)" "" "0000911672" "00024110" "30" "4582" "0" "4582" "0" "c.4582G>A" "r.(?)" "p.(Asp1528Asn)" "" "0000911673" "00024110" "50" "4435" "0" "4435" "0" "c.4435G>A" "r.(?)" "p.(Gly1479Ser)" "" "0000911674" "00024110" "50" "3925" "0" "3930" "0" "c.3925_3930dup" "r.(?)" "p.(Lys1309_Lys1310dup)" "" "0000943881" "00024110" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237*)" "" "0000943882" "00024110" "90" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Arg708*)" "" "0000943907" "00024110" "70" "5713" "-2" "5713" "-2" "c.5713-2A>G" "r.spl" "p.?" "" "0000943920" "00024110" "90" "5197" "0" "5197" "0" "c.5197G>A" "r.(?)" "p.(Glu1733Lys)" "11" "0000944146" "00024110" "70" "1550" "0" "1550" "0" "c.1550T>C" "r.(?)" "p.(Leu517Pro)" "" "0000944147" "00024110" "70" "1550" "0" "1550" "0" "c.1550T>C" "r.(?)" "p.(Leu517Pro)" "" "0000944148" "00024110" "70" "1904" "0" "1904" "0" "c.1904T>A" "r.(?)" "p.(Val635Asp)" "" "0000944149" "00024110" "90" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Arg708Ter)" "" "0000944150" "00024110" "90" "4809" "0" "4809" "0" "c.4809C>A" "r.?" "p.(Tyr1603*)" "" "0000944151" "00024110" "90" "5197" "0" "5197" "0" "c.5197G>A" "r.?" "p.(Glu1733Lys)" "" "0000944152" "00024110" "90" "2965" "0" "2967" "0" "c.2965_2967del" "r.(?)" "p.(Phe989del)" "" "0000944153" "00024110" "90" "3376" "0" "3376" "0" "c.3376dup" "r.(?)" "p.(Ile1126AsnfsTer51)" "" "0000944154" "00024110" "70" "6013" "0" "6013" "0" "c.*19C>T" "r.?" "p.?" "" "0000944155" "00024110" "90" "4799" "1" "4799" "1" "c.4799+1G>A" "r.spl" "p.?" "" "0000944156" "00024110" "70" "5714" "0" "5714" "0" "c.5714G>T" "r.(?)" "p.(Gly1905Val)" "" "0000944505" "00024110" "90" "2965" "0" "2967" "0" "c.2965_2967del" "r.(?)" "p.(Phe989del)" "" "0000944506" "00024110" "90" "3289" "-1" "3289" "-1" "c.3289-1G>T" "r.spl" "p.?" "" "0000944507" "00024110" "90" "4805" "0" "4805" "0" "c.4805G>T" "r.(?)" "p.(Gly1602Val)" "" "0000972013" "00024110" "70" "3409" "-1" "3409" "-1" "c.3409-1G>A" "r.spl" "p.?" "" "0000975182" "00024110" "50" "5711" "0" "5711" "0" "c.5711C>T" "r.(?)" "p.(Thr1904Met)" "" "0000975183" "00024110" "50" "5159" "0" "5159" "0" "c.5159C>T" "r.(?)" "p.(Thr1720Met)" "" "0000975184" "00024110" "30" "4483" "0" "4483" "0" "c.4483C>A" "r.(?)" "p.(Arg1495=)" "" "0001013713" "00024110" "50" "5063" "0" "5063" "0" "c.5063C>T" "r.(?)" "p.(Thr1688Met)" "" "0001013714" "00024110" "50" "1972" "0" "1972" "0" "c.1972G>C" "r.(?)" "p.(Glu658Gln)" "" "0001013715" "00024110" "50" "1702" "0" "1702" "0" "c.1702C>T" "r.(?)" "p.(Arg568Trp)" "" "0001013716" "00024110" "50" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Gly27Glu)" "" "0001024567" "00024110" "30" "2401" "0" "2401" "0" "c.2401G>T" "r.(?)" "p.(Glu801*)" "" "0001033231" "00024110" "30" "8992" "0" "8992" "0" "c.*2998C>T" "r.(=)" "p.(=)" "" "0001033232" "00024110" "30" "3409" "-9" "3409" "-9" "c.3409-9C>G" "r.(=)" "p.(=)" "" "0001033233" "00024110" "50" "2516" "0" "2516" "0" "c.2516C>T" "r.(?)" "p.(Ala839Val)" "" "0001033234" "00024110" "50" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Val379Met)" "" "0001044747" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044748" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044749" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044750" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044751" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044752" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044753" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044754" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044755" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044756" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044757" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044758" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044759" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044760" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044761" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044762" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044763" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044764" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044765" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044766" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044767" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044768" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044769" "00024110" "90" "5197" "0" "5197" "0" "c.5197G>A" "r.(?)" "p.(Glu1733Lys)" "" "0001044770" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044771" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044772" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044773" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044774" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044775" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044776" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044777" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044778" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044779" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044780" "00024110" "50" "4023" "1" "4023" "1" "c.4023+1G>A " "r.spl" "p.?" "" "0001044781" "00024110" "70" "5287" "0" "5287" "0" "c.5287A>G" "r.(?)" "p.(Arg1763Gly)" "" "0001044782" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044783" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044784" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044785" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044786" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044787" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044788" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044789" "00024110" "90" "2279" "0" "2279" "0" "c.2279T>C" "r.(?)" "p.(Leu760Pro)" "" "0001044790" "00024110" "70" "5000" "0" "5000" "0" "c.5000C>A" "r.(?)" "p.(Ala1667Asp)" "" "0001044791" "00024110" "70" "2521" "0" "2521" "0" "c.2521G>A" "r.(?)" "p.(Glu841Lys)" "" "0001044792" "00024110" "70" "2521" "0" "2521" "0" "c.2521G>A" "r.(?)" "p.(Glu841Lys)" "" "0001044793" "00024110" "90" "4961" "-1" "4961" "-1" "c.4961-1G>A " "r.(4960_4961ins[4961-70_4961-2;A])" "p.(Gly1654ValfsTer18)" "" "0001044794" "00024110" "50" "4023" "1" "4023" "1" "c.4023+1G>A " "r.spl" "p.?" "" "0001044795" "00024110" "90" "3894" "5" "3894" "5" "c.3894+5G>C " "r.(3865_3894del)" "p.(Thr1289_Val1298del)" "" "0001044796" "00024110" "90" "4030" "0" "4030" "0" "c.4030C>T" "r.(?)" "p.(Arg1344Ter)" "" "0001044797" "00024110" "90" "5566" "0" "5566" "0" "c.5566C>T" "r.(?)" "p.(Arg1856Trp)" "" "0001044798" "00024110" "70" "2521" "0" "2521" "0" "c.2521G>A" "r.(?)" "p.(Glu841Lys)" "" "0001044799" "00024110" "90" "5098" "0" "5098" "0" "c.5098G>C" "r.(?)" "p.(Glu1700Gln)" "" "0001044800" "00024110" "70" "5203" "0" "5203" "0" "c.5203C>T" "r.(?)" "p.(Arg1735Trp)" "" "0001044801" "00024110" "90" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Arg500Ter)" "" "0001044802" "00024110" "90" "3704" "0" "3719" "0" "c.3704_3719del" "r.(?)" "p.(Asp1235AlafsTer30)" "" "0001044803" "00024110" "70" "5335" "0" "5335" "0" "c.5335C>T" "r.(?)" "p.(His1779Tyr)" "" "0001044804" "00024110" "90" "3704" "0" "3719" "0" "c.3704_3719del" "r.(?)" "p.(Asp1235AlafsTer30)" "" "0001044805" "00024110" "90" "3864" "0" "3864" "0" "c.3864G>A" "r.(3734_3864del)" "p.(Val1245AspfsTer3)" "" "0001044806" "00024110" "70" "2521" "0" "2521" "0" "c.2521G>A" "r.(?)" "p.(Glu841Lys)" "" "0001044807" "00024110" "70" "4501" "0" "4501" "0" "c.4501G>A" "r.(?)" "p.(Ala1501Thr)" "" "0001044808" "00024110" "90" "5813" "2" "5813" "2" "c.5813+2T>C" "r.(?)" "p.?" "" "0001044809" "00024110" "70" "4501" "0" "4501" "0" "c.4501G>A" "r.(?)" "p.(Ala1501Thr)" "" "0001044810" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044811" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044812" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044813" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044814" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044815" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044816" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044817" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044818" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044819" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044820" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044821" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044822" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044823" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044824" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044825" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044826" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044827" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044828" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044829" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044830" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044831" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044832" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044833" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044834" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044835" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044836" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044837" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044838" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044839" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044840" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044841" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044842" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044843" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044844" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044845" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044846" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044847" "00024110" "90" "" "0" "" "0" "c.*179A>G" "r.(?)" "p.(=)" "" "0001044848" "00024110" "30" "5203" "0" "5203" "0" "c.5203C>T" "r.(?)" "p.(Arg1735Trp)" "" "0001044849" "00024110" "30" "5335" "0" "5335" "0" "c.5335C>T" "r.(?)" "p.(His1779Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 383 "{{screeningid}}" "{{variantid}}" "0000059017" "0000089816" "0000059017" "0000089817" "0000059159" "0000089975" "0000059159" "0000089976" "0000156091" "0000357962" "0000164242" "0000367359" "0000164242" "0000367422" "0000164243" "0000367360" "0000164244" "0000367361" "0000164245" "0000367362" "0000164246" "0000367363" "0000164246" "0000367476" "0000164247" "0000367364" "0000164247" "0000367410" "0000164247" "0000367413" "0000164247" "0000367514" "0000164248" "0000367365" "0000164249" "0000367366" "0000164249" "0000367538" "0000164250" "0000367367" "0000164250" "0000367391" "0000164250" "0000367411" "0000164250" "0000367513" "0000164251" "0000367368" "0000164251" "0000367392" "0000164252" "0000367369" "0000164253" "0000367370" "0000164253" "0000367445" "0000164254" "0000367371" "0000164255" "0000367372" "0000164256" "0000367373" "0000164257" "0000367374" "0000164257" "0000367459" "0000164258" "0000367375" "0000164258" "0000367443" "0000164259" "0000367376" "0000164259" "0000367395" "0000164260" "0000367377" "0000164261" "0000367378" "0000164262" "0000367379" "0000164263" "0000367380" "0000164263" "0000367536" "0000164264" "0000367381" "0000164264" "0000367515" "0000164265" "0000367382" "0000164265" "0000367518" "0000164266" "0000367383" "0000164267" "0000367384" "0000164268" "0000367385" "0000164269" "0000367386" "0000164269" "0000367469" "0000164270" "0000367387" "0000164270" "0000367479" "0000164271" "0000367388" "0000164272" "0000367389" "0000164273" "0000367390" "0000164274" "0000367393" "0000164274" "0000367471" "0000164275" "0000367394" "0000164275" "0000367417" "0000164276" "0000367396" "0000164276" "0000367535" "0000164277" "0000367397" "0000164278" "0000367398" "0000164279" "0000367399" "0000164279" "0000367483" "0000164280" "0000367400" "0000164281" "0000367401" "0000164282" "0000367402" "0000164282" "0000367449" "0000164283" "0000367403" "0000164283" 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