### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OTOA) # 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}}" "OTOA" "otoancorin" "16" "p12.2" "unknown" "NG_012973.1" "UD_132085312985" "" "http://www.LOVD.nl/OTOA" "" "1" "16378" "146183" "607038" "1" "1" "1" "1" "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/OTOA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-14 18:14:03" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024186" "OTOA" "transcript variant 1" "001" "NM_144672.3" "" "NP_653273.3" "" "" "" "-1" "3609" "3420" "21689835" "21772050" "00006" "2016-10-14 18:12:04" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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" "02273" "-" "deafness, nonsyndromic sensorineural, mitochondrial" "" "500008" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:51:33" "02624" "DFNB22" "deafness, autosomal recessive, type 2 (DFNB22)" "AR" "607039" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-08-18 14:31:39" "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" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "OTOA" "02624" ## Individuals ## Do not remove or alter this header ## ## Count = 42 "{{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}}" "00050442" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050458" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00059175" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00080018" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "0" "" "" "" "" "00080061" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "0" "" "" "" "" "00117278" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1566" "00181094" "" "" "" "1" "" "01779" "" "" "M" "no" "Korea, South (Republic)" "<02y" "0" "" "" "Asian" "" "00285121" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285122" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285123" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285124" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285125" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285126" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285127" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285128" "" "" "" "1" "" "00004" "{PMID:Walsh 2006:16460646}" "" "" "" "" "" "0" "" "" "" "" "00285129" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285130" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285131" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285132" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285133" "" "" "" "1" "" "00004" "{PMID:Tsai 2013:23897863}" "" "" "" "" "" "0" "" "" "" "" "00285134" "" "" "" "1" "" "00004" "{PMID:Zwaenepoel 2002:11972037}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00285135" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Lee 2013:23173898}" "" "" "" "" "" "0" "" "" "" "" "00285136" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285137" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285138" "" "" "" "1" "" "00004" "{PMID:Park 2014:25373420}" "" "" "" "" "" "0" "" "" "" "" "00285139" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Lee 2013:23173898}" "" "" "" "" "" "0" "" "" "" "" "00285140" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}, {PMID:Lee 2013:23173898}" "" "" "" "" "" "0" "" "" "" "" "00285141" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285142" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285143" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285144" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285145" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285146" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285147" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285148" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285149" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00291421" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00363241" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat93" "00377583" "" "" "" "1" "" "04136" "" "" "F" "no" "Italy" "" "0" "" "" "" "P_OTOA" "00441111" "" "" "" "2" "" "00006" "{PMID:Ammar-Khodja 2015:26029705}" "4-generation family, 2 affected brothers (2M), unaffected heterozygous parents/relatives" "M" "yes" "Algeria" "" "0" "" "" "" "Fam7" "00441325" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4725" "00441332" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF889" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00050442" "00198" "00050458" "00198" "00059175" "00531" "00080018" "05103" "00080061" "05103" "00117278" "05103" "00181094" "02273" "00285123" "05086" "00285128" "05086" "00285133" "05086" "00285134" "05103" "00285135" "05086" "00285137" "05103" "00285138" "05086" "00285139" "05086" "00285141" "05103" "00285142" "05086" "00285144" "05086" "00285146" "05086" "00285148" "05103" "00291421" "00198" "00363241" "05415" "00377583" "02624" "00441111" "05086" "00441325" "05086" "00441332" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00531, 02273, 02624, 05086, 05103, 05415 ## Count = 24 "{{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}}" "0000037054" "00198" "00050442" "00006" "Isolated (sporadic)" "" "microcephaly, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "0000037070" "00198" "00050458" "00006" "Isolated (sporadic)" "" "microcephaly, intrauterine growth retardation, global developmental delay, abnormal size of the palpebral fissures, prominent nose, short 4th metacarpal, clinodactyly of the 5th finger, cutaneous syndactyly of toes, aggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "0000061069" "05103" "00080061" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061070" "05103" "00080018" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092525" "05103" "00117278" "00110" "Familial, autosomal recessive" "08y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000143345" "02273" "00181094" "01779" "Familial, autosomal recessive" "00y21m" "deafness" "00y" "00y21m" "0y" "" "" "" "" "" "deafness" "autosomal recessive" "" "0000218264" "05086" "00285123" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218265" "05086" "00285128" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218266" "05086" "00285133" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, sensorineural, non-syndromic" "" "0000218267" "05086" "00285135" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218268" "05086" "00285138" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218269" "05086" "00285139" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218270" "05086" "00285142" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218271" "05086" "00285144" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218272" "05086" "00285146" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218607" "05103" "00285134" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal recessive" "" "0000218608" "05103" "00285137" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 22" "deafness, autosomal recessive" "" "0000218609" "05103" "00285141" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 22" "deafness, autosomal recessive" "" "0000218610" "05103" "00285148" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 22" "deafness, autosomal recessive" "" "0000258606" "05415" "00363241" "00000" "Familial, autosomal recessive" "6y" "deafness, blindness, deep pigment deposits along the vascular arcades, subretinal fibrosis; ERG delayed, depressed, simplified scotopic flash response" "" "" "" "" "" "" "" "" "" "Usher syndrome, atypical" "" "0000272737" "02624" "00377583" "04136" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB22" "Hearing loss" "" "0000330551" "05086" "00441111" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "severe-to-profound deafness" "" "0000330765" "05086" "00441325" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330772" "05086" "00441332" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 42 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050387" "00050442" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050403" "00050458" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059158" "00059175" "1" "01551" "01551" "2016-02-29 15:11:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080097" "00080018" "1" "01740" "01740" "2016-09-01 12:13:11" "" "" "SEQ-NG" "DNA" "" "" "0000080140" "00080061" "1" "01740" "01740" "2016-09-01 14:18:26" "" "" "SEQ-NG" "DNA" "" "" "0000117746" "00117278" "1" "00110" "00110" "2017-08-17 11:21:16" "00110" "2017-08-17 11:25:09" "SEQ;SEQ-NG-I" "DNA" "" "gene panel" "0000182046" "00181094" "1" "01779" "01779" "2018-09-26 01:39:22" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000286271" "00285121" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286272" "00285122" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286273" "00285123" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286274" "00285124" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286275" "00285125" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286276" "00285126" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286277" "00285127" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286278" "00285128" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286279" "00285129" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286280" "00285130" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286281" "00285131" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286282" "00285132" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286283" "00285133" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286284" "00285134" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286285" "00285135" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286286" "00285136" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286287" "00285137" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286288" "00285138" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286289" "00285139" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286290" "00285140" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286291" "00285141" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286292" "00285142" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286293" "00285143" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286294" "00285144" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286295" "00285145" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286296" "00285146" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286297" "00285147" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286298" "00285148" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286299" "00285149" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000292589" "00291421" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000364469" "00363241" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ" "DNA" "" "" "0000378787" "00377583" "1" "04136" "04136" "2021-07-28 10:51:29" "" "" "SEQ-NG" "DNA" "" "" "0000442596" "00441111" "1" "00006" "00006" "2023-11-06 09:06:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442811" "00441325" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442818" "00441332" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{geneid}}" "0000059158" "OTOA" "0000117746" "GJB2" "0000117746" "OTOA" "0000182046" "OTOA" "0000286271" "OTOA" "0000286272" "OTOA" "0000286273" "OTOA" "0000286274" "OTOA" "0000286275" "OTOA" "0000286276" "OTOA" "0000286277" "OTOA" "0000286278" "OTOA" "0000286279" "OTOA" "0000286280" "OTOA" "0000286281" "OTOA" "0000286282" "OTOA" "0000286283" "OTOA" "0000286284" "OTOA" "0000286285" "OTOA" "0000286286" "OTOA" "0000286287" "OTOA" "0000286288" "OTOA" "0000286289" "OTOA" "0000286290" "OTOA" "0000286291" "OTOA" "0000286292" "OTOA" "0000286293" "OTOA" "0000286294" "OTOA" "0000286295" "OTOA" "0000286296" "OTOA" "0000286297" "OTOA" "0000286298" "OTOA" "0000286299" "OTOA" "0000364469" "NR2E3" "0000364469" "OTOA" "0000378787" "OTOA" ## 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 = 105 "{{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}}" "0000079367" "0" "90" "16" "21314249" "21916073" "del" "0" "00006" "CRYM-AS1_000001" "g.21314249_21916073del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.21302928_21904752del" "" "pathogenic" "" "0000079383" "0" "90" "16" "21530207" "29332245" "del" "0" "00006" "CLN3_000009" "g.21530207_29332245del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.21518886_29320924del" "" "pathogenic" "" "0000089973" "0" "90" "16" "21716574" "21716574" "del" "0" "01551" "OTOA_000001" "g.21716574del" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.21705253del" "" "pathogenic" "" "0000089974" "0" "90" "16" "21763731" "21763732" "del" "2.44723E-5" "01551" "OTOA_000002" "g.21763731_21763732del" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.21752410_21752411del" "" "pathogenic" "" "0000129857" "3" "70" "16" "21689836" "21771861" "" "0" "01740" "OTOA_000003" "g.(?_21689836)_(21771861_?)del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "1_3183del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000129859" "3" "70" "16" "21689836" "21771861" "" "0" "01740" "OTOA_000003" "g.(?_21689836)_(21771861_?)del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "1_3183del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000188746" "11" "90" "16" "21739647" "21739647" "del" "8.12678E-6" "00110" "OTOA_000004" "g.21739647del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "2102delT" "" "Germline" "yes" "" "0" "" "" "g.21728326del" "" "pathogenic" "" "0000188747" "21" "90" "16" "21721426" "21721426" "subst" "0" "00110" "OTOA_000005" "g.21721426T>C" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21710105T>C" "" "pathogenic" "" "0000296693" "0" "10" "16" "21730449" "21730449" "subst" "0.625551" "02325" "OTOA_000009" "g.21730449C>T" "" "" "" "OTOA(NM_144672.4):c.1630-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21719128C>T" "" "benign" "" "0000304846" "0" "30" "16" "21721325" "21721325" "subst" "2.43871E-5" "01943" "OTOA_000007" "g.21721325C>T" "" "" "" "OTOA(NM_144672.4):c.1221C>T (p.P407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21710004C>T" "" "likely benign" "" "0000304847" "0" "50" "16" "21726414" "21726414" "subst" "8.12777E-5" "01943" "OTOA_000008" "g.21726414G>C" "" "" "" "OTOA(NM_144672.4):c.1429G>C (p.A477P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21715093G>C" "" "VUS" "" "0000304848" "0" "30" "16" "21742179" "21742179" "subst" "0.0291149" "01943" "OTOA_000010" "g.21742179C>T" "" "" "" "OTOA(NM_144672.4):c.2229C>T (p.A743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21730858C>T" "" "likely benign" "" "0000304849" "0" "30" "16" "21709177" "21709177" "subst" "3.65678E-5" "01943" "OTOA_000006" "g.21709177C>T" "" "" "" "OTOA(NM_144672.4):c.821C>T (p.T274M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21697856C>T" "" "likely benign" "" "0000337498" "0" "70" "16" "21693147" "21693147" "subst" "0" "02327" "OTOA_000012" "g.21693147G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21681826G>A" "" "likely pathogenic" "" "0000337500" "0" "10" "16" "21730449" "21730449" "subst" "0.625551" "02327" "OTOA_000009" "g.21730449C>T" "" "" "" "OTOA(NM_144672.4):c.1630-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21719128C>T" "" "benign" "" "0000337502" "0" "30" "16" "21747722" "21747722" "subst" "0.000178718" "02327" "OTOA_000020" "g.21747722T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21736401T>C" "" "likely benign" "" "0000337503" "0" "30" "16" "21752249" "21752249" "subst" "0" "02327" "OTOA_000021" "g.21752249G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21740928G>A" "" "likely benign" "" "0000337505" "0" "30" "16" "21771873" "21771873" "subst" "0" "02327" "OTOA_000024" "g.21771873G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21760552G>A" "" "likely benign" "" "0000337506" "0" "10" "16" "21771908" "21771908" "subst" "0.243155" "02327" "OTOA_000025" "g.21771908A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21760587A>G" "" "benign" "" "0000337507" "0" "30" "16" "21771945" "21771945" "subst" "0" "02327" "OTOA_000026" "g.21771945C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21760624C>G" "" "likely benign" "" "0000337508" "0" "30" "16" "21771976" "21771976" "subst" "0" "02327" "OTOA_000027" "g.21771976G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21760655G>A" "" "likely benign" "" "0000339667" "0" "30" "16" "21742179" "21742179" "subst" "0.0291149" "02327" "OTOA_000010" "g.21742179C>T" "" "" "" "OTOA(NM_144672.4):c.2229C>T (p.A743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21730858C>T" "" "likely benign" "" "0000341518" "0" "50" "16" "21734239" "21734239" "subst" "4.06263E-6" "02327" "OTOA_000015" "g.21734239C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21722918C>T" "" "VUS" "" "0000344059" "0" "50" "16" "21689926" "21689926" "subst" "0" "02327" "OTOA_000011" "g.21689926G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21678605G>A" "" "VUS" "" "0000346246" "0" "70" "16" "21739752" "21739752" "subst" "1.63367E-5" "02327" "OTOA_000016" "g.21739752G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21728431G>A" "" "likely pathogenic" "" "0000346530" "0" "50" "16" "21756236" "21756236" "subst" "0" "02327" "OTOA_000022" "g.21756236A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21744915A>G" "" "VUS" "" "0000349242" "0" "30" "16" "21768530" "21768530" "subst" "0.0117693" "02327" "OTOA_000023" "g.21768530C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21757209C>T" "" "likely benign" "" "0000349629" "0" "10" "16" "21747633" "21747633" "subst" "0" "02327" "OTOA_000017" "g.21747633A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21736312A>C" "" "benign" "" "0000350199" "0" "30" "16" "21747697" "21747697" "subst" "0.000431245" "02327" "OTOA_000019" "g.21747697A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21736376A>C" "" "likely benign" "" "0000350603" "0" "50" "16" "21734226" "21734226" "subst" "4.06286E-6" "02327" "OTOA_000014" "g.21734226G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21722905G>T" "" "VUS" "" "0000405862" "21" "90" "16" "21721429" "21721429" "subst" "8.56025E-6" "01779" "OTOA_000028" "g.21721429G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.21710108G>C" "" "pathogenic" "" "0000405863" "11" "90" "16" "21730784" "21730784" "del" "0" "01779" "OTOA_000029" "g.21730784del" "" "" "" "1765delC" "" "Germline" "" "" "0" "" "" "g.21719463del" "" "pathogenic" "" "0000557478" "0" "90" "16" "21698770" "21698770" "subst" "1.62477E-5" "02327" "OTOA_000030" "g.21698770C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21687449C>T" "" "pathogenic" "" "0000557479" "0" "90" "16" "21698927" "21698927" "del" "0" "01943" "OTOA_000031" "g.21698927del" "" "" "" "OTOA(NM_144672.4):c.593delA (p.E198Gfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21687606del" "" "pathogenic" "" "0000557480" "0" "50" "16" "21698950" "21698950" "subst" "4.07461E-5" "02327" "OTOA_000032" "g.21698950G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21687629G>A" "" "VUS" "" "0000557481" "0" "10" "16" "21721245" "21721245" "subst" "0.00434316" "01943" "OTOA_000033" "g.21721245C>G" "" "" "" "OTOA(NM_144672.4):c.1141C>G (p.Q381E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21709924C>G" "" "benign" "" "0000557482" "0" "50" "16" "21726319" "21726319" "subst" "0" "01943" "OTOA_000034" "g.21726319A>G" "" "" "" "OTOA(NM_144672.4):c.1334A>G (p.Y445C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21714998A>G" "" "VUS" "" "0000557483" "0" "30" "16" "21728262" "21728262" "subst" "0.0010078" "01943" "OTOA_000035" "g.21728262T>C" "" "" "" "OTOA(NM_144672.4):c.1523T>C (p.V508A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21716941T>C" "" "likely benign" "" "0000557484" "0" "30" "16" "21739666" "21739666" "subst" "4.06349E-5" "01943" "OTOA_000036" "g.21739666G>C" "" "" "" "OTOA(NM_144672.4):c.2121G>C (p.A707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21728345G>C" "" "likely benign" "" "0000557485" "0" "50" "16" "21752158" "21752158" "subst" "0" "02327" "OTOA_000037" "g.21752158G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21740837G>C" "" "VUS" "" "0000615865" "0" "30" "16" "21739665" "21739665" "subst" "0.000768012" "01943" "OTOA_000040" "g.21739665C>T" "" "" "" "OTOA(NM_144672.4):c.2120C>T (p.A707V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21728344C>T" "" "likely benign" "" "0000623417" "0" "50" "16" "21702943" "21702943" "subst" "0" "01943" "OTOA_000038" "g.21702943C>G" "" "" "" "OTOA(NM_144672.4):c.674C>G (p.A225G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21691622C>G" "" "VUS" "" "0000623418" "0" "50" "16" "21721353" "21721353" "subst" "1.62611E-5" "01943" "OTOA_000039" "g.21721353C>T" "" "" "" "OTOA(NM_144672.4):c.1249C>T (p.L417F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21710032C>T" "" "VUS" "" "0000623419" "0" "30" "16" "21764367" "21764367" "subst" "0" "01943" "OTOA_000041" "g.21764367G>A" "" "" "" "OTOA(NM_144672.4):c.3075G>A (p.E1025=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21753046G>A" "" "likely benign" "" "0000642013" "1" "33" "16" "21690274" "21690274" "subst" "0.00036566" "00004" "OTOA_000042" "g.21690274C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21678953C>G" "" "likely benign" "" "0000642014" "1" "55" "16" "21690367" "21690367" "subst" "7.31202E-5" "00004" "OTOA_000043" "g.21690367T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21679046T>C" "" "VUS" "" "0000642015" "1" "99" "16" "21690388" "21690388" "subst" "0" "00004" "OTOA_000044" "g.21690388G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21679067G>A" "" "pathogenic" "" "0000642016" "1" "33" "16" "21702929" "21702929" "subst" "0.00011787" "00004" "OTOA_000045" "g.21702929C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21691608C>T" "" "likely benign" "" "0000642017" "1" "33" "16" "21703019" "21703019" "subst" "0.000183349" "00004" "OTOA_000046" "g.21703019A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21691698A>G" "" "likely benign" "" "0000642018" "1" "55" "16" "21712219" "21712219" "subst" "0" "00004" "OTOA_000047" "g.21712219T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21700898T>C" "" "VUS" "" "0000642019" "1" "55" "16" "21716343" "21716343" "subst" "0" "00004" "OTOA_000048" "g.21716343A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21705022A>G" "" "VUS" "" "0000642020" "1" "99" "16" "21716534" "21716534" "subst" "0" "00004" "OTOA_000049" "g.21716534A>T" "" "{DB:DVD}, {PMID:Walsh 2006:16460646}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21705213A>T" "" "pathogenic" "" "0000642021" "1" "33" "16" "21716625" "21716625" "subst" "0" "00004" "OTOA_000050" "g.21716625G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21705304G>C" "" "likely benign" "" "0000642022" "1" "33" "16" "21721199" "21721199" "subst" "4.06491E-6" "00004" "OTOA_000051" "g.21721199C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21709878C>T" "" "likely benign" "" "0000642023" "1" "55" "16" "21721213" "21721213" "subst" "0" "00004" "OTOA_000052" "g.21721213A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21709892A>G" "" "VUS" "" "0000642024" "1" "55" "16" "21721276" "21721276" "subst" "1.21901E-5" "00004" "OTOA_000053" "g.21721276C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21709955C>T" "" "VUS" "" "0000642025" "1" "77" "16" "21721353" "21721353" "subst" "1.62611E-5" "00004" "OTOA_000039" "g.21721353C>T" "" "{DB:DVD}, {PMID:Tsai 2013:23897863}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21710032C>T" "" "likely pathogenic" "" "0000642026" "1" "99" "16" "21721426" "21721426" "subst" "0" "00004" "OTOA_000005" "g.21721426T>C" "" "{DB:DVD}, {PMID:Zwaenepoel 2002:11972037}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21710105T>C" "" "pathogenic" "" "0000642027" "1" "99" "16" "21726337" "21726337" "subst" "4.06911E-6" "00004" "OTOA_000054" "g.21726337G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Lee 2013:23173898}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21715016G>A" "" "pathogenic" "" "0000642028" "1" "33" "16" "21728239" "21728239" "subst" "6.50248E-5" "00004" "OTOA_000055" "g.21728239G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21716918G>C" "" "likely benign" "" "0000642029" "1" "99" "16" "21730513" "21730513" "subst" "4.07259E-6" "00004" "OTOA_000056" "g.21730513G>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21719192G>T" "" "pathogenic" "" "0000642030" "1" "77" "16" "21730784" "21730784" "del" "0" "00004" "OTOA_000029" "g.21730784del" "" "{DB:DVD}, {PMID:Park 2014:25373420}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21719463del" "" "likely pathogenic" "" "0000642031" "1" "99" "16" "21734298" "21734298" "subst" "3.6577E-5" "00004" "OTOA_000057" "g.21734298C>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Lee 2013:23173898}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21722977C>T" "" "pathogenic" "" "0000642032" "1" "55" "16" "21734299" "21734299" "subst" "0" "00004" "OTOA_000058" "g.21734299C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}, {PMID:Lee 2013:23173898}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21722978C>G" "" "VUS" "" "0000642033" "1" "99" "16" "21734300" "21734300" "subst" "2.84527E-5" "00004" "OTOA_000059" "g.21734300G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21722979G>A" "" "pathogenic" "" "0000642034" "1" "99" "16" "21737902" "21737902" "subst" "1.21905E-5" "00004" "OTOA_000060" "g.21737902G>C" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21726581G>C" "" "pathogenic" "" "0000642035" "1" "33" "16" "21739564" "21739564" "subst" "7.31588E-5" "00004" "OTOA_000061" "g.21739564C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21728243C>T" "" "likely benign" "" "0000642036" "1" "99" "16" "21739746" "21739746" "subst" "4.07372E-6" "00004" "OTOA_000062" "g.21739746A>G" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21728425A>G" "" "pathogenic" "" "0000642037" "1" "33" "16" "21739761" "21739761" "subst" "5.75568E-5" "00004" "OTOA_000063" "g.21739761C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21728440C>T" "" "likely benign" "" "0000642038" "1" "99" "16" "21742157" "21742157" "subst" "0" "00004" "OTOA_000064" "g.21742157G>A" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21730836G>A" "" "pathogenic" "" "0000642039" "1" "55" "16" "21742172" "21742172" "subst" "0" "00004" "OTOA_000065" "g.21742172G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21730851G>C" "" "VUS" "" "0000642040" "1" "77" "16" "21763275" "21763275" "subst" "0.000102279" "00004" "OTOA_000066" "g.21763275G>C" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21751954G>C" "" "likely pathogenic" "" "0000642041" "1" "55" "16" "21771818" "21771818" "subst" "0.000258133" "00004" "OTOA_000067" "g.21771818T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.21760497T>C" "" "VUS" "" "0000649278" "1" "10" "16" "21739665" "21739665" "subst" "0.000768012" "03575" "OTOA_000040" "g.21739665C>T" "5/2785 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs145160241}" "Germline" "" "rs145160241" "0" "" "" "g.21728344C>T" "" "benign" "" "0000680476" "0" "30" "16" "21728239" "21728239" "subst" "6.50248E-5" "01943" "OTOA_000055" "g.21728239G>C" "" "" "" "OTOA(NM_144672.4):c.1500G>C (p.A500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680477" "0" "90" "16" "21734300" "21734300" "subst" "2.84527E-5" "01943" "OTOA_000059" "g.21734300G>A" "" "" "" "OTOA(NM_144672.4):c.1880+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680478" "0" "50" "16" "21756254" "21756254" "subst" "0" "02327" "OTOA_000068" "g.21756254G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680479" "0" "90" "16" "21763399" "21763399" "subst" "0" "02327" "OTOA_000069" "g.21763399G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691997" "0" "30" "16" "21739565" "21739565" "subst" "6.50311E-5" "01943" "OTOA_000070" "g.21739565G>A" "" "" "" "OTOA(NM_144672.4):c.2020G>A (p.D674N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691998" "0" "50" "16" "21771818" "21771818" "subst" "0.000258133" "01943" "OTOA_000067" "g.21771818T>C" "" "" "" "OTOA(NM_144672.4):c.3377T>C (p.L1126P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725651" "0" "70" "16" "21693114" "21693114" "subst" "8.12269E-6" "02327" "OTOA_000073" "g.21693114C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000765249" "3" "90" "16" "21689835" "21772050" "del" "0" "00000" "OTOA_000074" "g.(?_21689835)_(21772050_?)del" "" "{PMID:Neuhaus 2017:28944237}" "" "gene deletion" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789900" "0" "70" "16" "21730790" "21730790" "subst" "0" "03779" "OTOA_000075" "g.21730790T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000791680" "21" "70" "16" "21742173" "21742173" "subst" "0" "04136" "OTOA_000076" "g.21742173G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.21730852G>A" "" "pathogenic (recessive)" "ACMG" "0000807228" "0" "10" "16" "21689879" "21689879" "subst" "0.0674526" "02327" "OTOA_000077" "g.21689879T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807229" "0" "30" "16" "21690274" "21690274" "subst" "0.00036566" "01943" "OTOA_000042" "g.21690274C>G" "" "" "" "OTOA(NM_144672.4):c.120+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864667" "0" "30" "16" "21712289" "21712289" "subst" "0.000605844" "01943" "OTOA_000078" "g.21712289G>A" "" "" "" "OTOA(NM_144672.4):c.921G>A (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864668" "0" "30" "16" "21728261" "21728261" "subst" "0.00222285" "01943" "OTOA_000079" "g.21728261G>A" "" "" "" "OTOA(NM_144672.4):c.1522G>A (p.V508M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864669" "0" "30" "16" "21737961" "21737961" "subst" "0.000101585" "01943" "OTOA_000080" "g.21737961G>A" "" "" "" "OTOA(NM_144672.4):c.1998G>A (p.R666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892792" "0" "10" "16" "21690225" "21690225" "subst" "0.0129742" "02327" "OTOA_000081" "g.21690225C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892793" "0" "90" "16" "21690235" "21690235" "subst" "2.44135E-5" "02327" "OTOA_000082" "g.21690235G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892799" "0" "50" "16" "21763773" "21763773" "subst" "5.40249E-5" "02327" "OTOA_000083" "g.21763773G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892800" "0" "50" "16" "21763826" "21763826" "subst" "0" "02327" "OTOA_000084" "g.21763826G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914561" "0" "50" "16" "21763716" "21763716" "subst" "0.000102073" "02327" "OTOA_000085" "g.21763716T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926204" "0" "90" "16" "21712296" "21712296" "subst" "0" "02327" "OTOA_000086" "g.21712296G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926205" "0" "90" "16" "21739647" "21739647" "del" "8.12678E-6" "02327" "OTOA_000004" "g.21739647del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926206" "0" "50" "16" "21763275" "21763275" "subst" "0.000102279" "02327" "OTOA_000066" "g.21763275G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000943887" "3" "90" "16" "21734226" "21734226" "subst" "4.06286E-6" "00006" "OTOA_000014" "g.21734226G>T" "" "{PMID:Ammar-Khodja 2015:26029705}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21722905G>T" "" "pathogenic (recessive)" "" "0000944145" "3" "90" "16" "21726337" "21726337" "subst" "4.06911E-6" "00006" "OTOA_000054" "g.21726337G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.21715016G>A" "" "pathogenic (recessive)" "" "0000944288" "3" "50" "16" "21739665" "21739665" "subst" "0.000768012" "00006" "OTOA_000040" "g.21739665C>T" "" "{PMID:Richard 2019: 30303587}" "" "NM_170664.2:c.1148C>T" "" "Germline" "" "" "0" "" "" "g.21728344C>T" "" "VUS" "" "0000972226" "0" "50" "16" "21693151" "21693151" "subst" "4.06246E-6" "03779" "OTOA_000087" "g.21693151G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1310241377" "0" "" "" "" "" "VUS" "" "0000981767" "0" "90" "16" "21747639" "21747639" "subst" "0" "01804" "OTOA_000018" "g.21747639G>T" "" "" "" "OTOA(NM_144672.4):c.2359G>T (p.(Glu787Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981768" "0" "50" "16" "21752099" "21752099" "subst" "0" "02327" "OTOA_000088" "g.21752099A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002075" "0" "90" "16" "21696684" "21696684" "subst" "6.10352E-5" "02327" "OTOA_000089" "g.21696684T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040946" "0" "50" "16" "21712268" "21712268" "subst" "0" "01804" "OTOA_000090" "g.21712268C>G" "" "" "" "OTOA(NM_144672.4):c.900C>G (p.(Ile300Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes OTOA ## Count = 105 "{{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}}" "0000079367" "00024186" "00" "-375587" "0" "147632" "0" "c.-375587_*144212del" "r.0?" "p.0?" "" "0000079383" "00024186" "00" "-159629" "0" "7563804" "0" "c.-159629_*7560384del" "r.0?" "p.0?" "" "0000089973" "00024186" "90" "1065" "0" "1065" "0" "c.1065del" "r.(?)" "p.(Lys355Asnfs*5)" "11" "0000089974" "00024186" "90" "2960" "0" "2961" "0" "c.2960_2961del" "r.(?)" "p.(His987Argfs*6)" "23" "0000129857" "00024186" "70" "1" "" "3420" "" "c.(?_1)_(3420_?)del" "r.0?" "p.0?" "_1_28_" "0000129859" "00024186" "70" "1" "" "3420" "" "c.(?_1)_(3420_?)del" "r.0?" "p.0?" "_1_28_" "0000188746" "00024186" "90" "2102" "0" "2102" "0" "c.2102del" "r.(?)" "p.(Ile701Thrfs*27)" "19" "0000188747" "00024186" "90" "1320" "2" "1320" "2" "c.1320+2T>C" "r.spl?" "p.?" "12i" "0000296693" "00024186" "10" "1630" "-5" "1630" "-5" "c.1630-5C>T" "r.spl?" "p.?" "" "0000304846" "00024186" "30" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(Pro407=)" "" "0000304847" "00024186" "50" "1429" "0" "1429" "0" "c.1429G>C" "r.(?)" "p.(Ala477Pro)" "" "0000304848" "00024186" "30" "2229" "0" "2229" "0" "c.2229C>T" "r.(?)" "p.(Ala743=)" "" "0000304849" "00024186" "30" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Thr274Met)" "" "0000337498" "00024186" "70" "267" "1" "267" "1" "c.267+1G>A" "r.spl?" "p.?" "" "0000337500" "00024186" "10" "1630" "-5" "1630" "-5" "c.1630-5C>T" "r.spl?" "p.?" "" "0000337502" "00024186" "30" "2431" "11" "2431" "11" "c.2431+11T>C" "r.(=)" "p.(=)" "" "0000337503" "00024186" "30" "2619" "20" "2619" "20" "c.2619+20G>A" "r.(=)" "p.(=)" "" "0000337505" "00024186" "30" "3432" "0" "3432" "0" "c.*12G>A" "r.(=)" "p.(=)" "" "0000337506" "00024186" "10" "3467" "0" "3467" "0" "c.*47A>G" "r.(=)" "p.(=)" "" "0000337507" "00024186" "30" "3504" "0" "3504" "0" "c.*84C>G" "r.(=)" "p.(=)" "" "0000337508" "00024186" "30" "3535" "0" "3535" "0" "c.*115G>A" "r.(=)" "p.(=)" "" "0000339667" "00024186" "30" "2229" "0" "2229" "0" "c.2229C>T" "r.(?)" "p.(Ala743=)" "" "0000341518" "00024186" "50" "1820" "0" "1820" "0" "c.1820C>T" "r.(?)" "p.(Ala607Val)" "" "0000344059" "00024186" "50" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Asp31Asn)" "" "0000346246" "00024186" "70" "2207" "0" "2207" "0" "c.2207G>A" "r.(?)" "p.(Gly736Glu)" "" "0000346530" "00024186" "50" "2654" "0" "2654" "0" "c.2654A>G" "r.(?)" "p.(His885Arg)" "" "0000349242" "00024186" "30" "3281" "0" "3281" "0" "c.3281C>T" "r.(?)" "p.(Thr1094Ile)" "" "0000349629" "00024186" "10" "2353" "0" "2353" "0" "c.2353A>C" "r.(?)" "p.(Thr785Pro)" "" "0000350199" "00024186" "30" "2417" "0" "2417" "0" "c.2417A>C" "r.(?)" "p.(Tyr806Ser)" "" "0000350603" "00024186" "50" "1807" "0" "1807" "0" "c.1807G>T" "r.(?)" "p.(Val603Phe)" "" "0000405862" "00024186" "90" "1320" "5" "1320" "5" "c.1320+5G>C" "r.spl?" "p.?" "" "0000405863" "00024186" "90" "1765" "0" "1765" "0" "c.1765del" "r.(?)" "p.(Gln589Argfs*55)" "" "0000557478" "00024186" "90" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146Ter)" "" "0000557479" "00024186" "90" "593" "0" "593" "0" "c.593del" "r.(?)" "p.(Glu198GlyfsTer38)" "" "0000557480" "00024186" "50" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Glu206Lys)" "" "0000557481" "00024186" "10" "1141" "0" "1141" "0" "c.1141C>G" "r.(?)" "p.(Gln381Glu)" "" "0000557482" "00024186" "50" "1334" "0" "1334" "0" "c.1334A>G" "r.(?)" "p.(Tyr445Cys)" "" "0000557483" "00024186" "30" "1523" "0" "1523" "0" "c.1523T>C" "r.(?)" "p.(Val508Ala)" "" "0000557484" "00024186" "30" "2121" "0" "2121" "0" "c.2121G>C" "r.(?)" "p.(Ala707=)" "" "0000557485" "00024186" "50" "2548" "0" "2548" "0" "c.2548G>C" "r.(?)" "p.(Val850Leu)" "" "0000615865" "00024186" "30" "2120" "0" "2120" "0" "c.2120C>T" "r.(?)" "p.(Ala707Val)" "" "0000623417" "00024186" "50" "674" "0" "674" "0" "c.674C>G" "r.(?)" "p.(Ala225Gly)" "" "0000623418" "00024186" "50" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Leu417Phe)" "" "0000623419" "00024186" "30" "3075" "0" "3075" "0" "c.3075G>A" "r.(?)" "p.(Glu1025=)" "" "0000642013" "00024186" "33" "120" "10" "120" "10" "c.120+10C>G" "r.(=)" "p.(=)" "2i" "0000642014" "00024186" "55" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Ile44Thr)" "3" "0000642015" "00024186" "99" "151" "1" "151" "1" "c.151+1G>A" "r.spl?" "p.?" "3i" "0000642016" "00024186" "33" "660" "0" "660" "0" "c.660C>T" "r.(=)" "p.(=)" "8" "0000642017" "00024186" "33" "739" "11" "739" "11" "c.739+11A>G" "r.(=)" "p.(=)" "8i" "0000642018" "00024186" "55" "851" "0" "851" "0" "c.851T>C" "r.(?)" "p.(Phe284Ser)" "10" "0000642019" "00024186" "55" "981" "-147" "981" "-147" "c.981-147A>G" "r.(=)" "p.(=)" "10i" "0000642020" "00024186" "99" "1025" "0" "1025" "0" "c.1025A>T" "r.(?)" "p.(Asp342Val)" "11" "0000642021" "00024186" "33" "1104" "12" "1104" "12" "c.1104+12G>C" "r.(=)" "p.(=)" "11i" "0000642022" "00024186" "33" "1105" "-10" "1105" "-10" "c.1105-10C>T" "r.(=)" "p.(=)" "11i" "0000642023" "00024186" "55" "1109" "0" "1109" "0" "c.1109A>G" "r.(?)" "p.(Lys370Arg)" "12" "0000642024" "00024186" "55" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Ser391Leu)" "12" "0000642025" "00024186" "77" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Leu417Phe)" "12" "0000642026" "00024186" "99" "1320" "2" "1320" "2" "c.1320+2T>C" "r.spl?" "p.?" "12i" "0000642027" "00024186" "99" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Gly451Asp)" "13" "0000642028" "00024186" "33" "1500" "0" "1500" "0" "c.1500G>C" "r.(=)" "p.(=)" "14" "0000642029" "00024186" "99" "1688" "1" "1688" "1" "c.1688+1G>T" "r.spl?" "p.?" "15i" "0000642030" "00024186" "77" "1765" "0" "1765" "0" "c.1765del" "r.(?)" "p.(Gln589Argfs*55)" "16" "0000642031" "00024186" "99" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Pro627Ser)" "17" "0000642032" "00024186" "55" "1880" "0" "1880" "0" "c.1880C>G" "r.(?)" "p.(Pro627Arg)" "17" "0000642033" "00024186" "99" "1880" "1" "1880" "1" "c.1880+1G>A" "r.spl?" "p.?" "17i" "0000642034" "00024186" "99" "1939" "0" "1939" "0" "c.1939G>C" "r.(?)" "p.(Gly647Arg)" "18" "0000642035" "00024186" "33" "2019" "0" "2019" "0" "c.2019C>T" "r.(=)" "p.(=)" "19" "0000642036" "00024186" "99" "2201" "0" "2201" "0" "c.2201A>G" "r.(?)" "p.(Gln734Arg)" "19" "0000642037" "00024186" "33" "2207" "9" "2207" "9" "c.2207+9C>T" "r.(=)" "p.(=)" "19i" "0000642038" "00024186" "99" "2208" "-1" "2208" "-1" "c.2208-1G>A" "r.spl?" "p.?" "19i" "0000642039" "00024186" "55" "2222" "0" "2222" "0" "c.2222G>C" "r.(?)" "p.(Trp741Ser)" "20" "0000642040" "00024186" "77" "2795" "0" "2795" "0" "c.2795G>C" "r.(?)" "p.(Gly932Ala)" "24" "0000642041" "00024186" "55" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "28" "0000649278" "00024186" "10" "2120" "0" "2120" "0" "c.2120C>T" "r.(?)" "p.(Ala707Val)" "" "0000680476" "00024186" "30" "1500" "0" "1500" "0" "c.1500G>C" "r.(?)" "p.(Ala500=)" "" "0000680477" "00024186" "90" "1880" "1" "1880" "1" "c.1880+1G>A" "r.spl?" "p.?" "" "0000680478" "00024186" "50" "2672" "0" "2672" "0" "c.2672G>T" "r.(?)" "p.(Arg891Leu)" "" "0000680479" "00024186" "90" "2918" "1" "2918" "1" "c.2918+1G>A" "r.spl?" "p.?" "" "0000691997" "00024186" "30" "2020" "0" "2020" "0" "c.2020G>A" "r.(?)" "p.(Asp674Asn)" "" "0000691998" "00024186" "50" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "" "0000725651" "00024186" "70" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Trp)" "" "0000765249" "00024186" "90" "0" "0" "0" "0" "c.-1_*189{0}" "r.0" "p.0" "_1_28_" "0000789900" "00024186" "70" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Phe591Leu)" "" "0000791680" "00024186" "70" "2223" "0" "2223" "0" "c.2223G>A" "r.(?)" "p.(Trp741*)" "20" "0000807228" "00024186" "10" "44" "0" "44" "0" "c.44T>A" "r.(?)" "p.(Phe15Tyr)" "" "0000807229" "00024186" "30" "120" "10" "120" "10" "c.120+10C>G" "r.(=)" "p.(=)" "" "0000864667" "00024186" "30" "921" "0" "921" "0" "c.921G>A" "r.(?)" "p.(Ala307=)" "" "0000864668" "00024186" "30" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Val508Met)" "" "0000864669" "00024186" "30" "1998" "0" "1998" "0" "c.1998G>A" "r.(?)" "p.(Arg666=)" "" "0000892792" "00024186" "10" "92" "-11" "92" "-11" "c.92-11C>A" "r.(=)" "p.(=)" "" "0000892793" "00024186" "90" "92" "-1" "92" "-1" "c.92-1G>T" "r.spl?" "p.?" "" "0000892799" "00024186" "50" "3002" "0" "3002" "0" "c.3002G>A" "r.(?)" "p.(Gly1001Glu)" "" "0000892800" "00024186" "50" "3055" "0" "3055" "0" "c.3055G>A" "r.(?)" "p.(Ala1019Thr)" "" "0000914561" "00024186" "50" "2945" "0" "2945" "0" "c.2945T>C" "r.(?)" "p.(Leu982Pro)" "" "0000926204" "00024186" "90" "928" "0" "928" "0" "c.928G>T" "r.(?)" "p.(Glu310*)" "" "0000926205" "00024186" "90" "2102" "0" "2102" "0" "c.2102del" "r.(?)" "p.(Ile701Thrfs*27)" "" "0000926206" "00024186" "50" "2795" "0" "2795" "0" "c.2795G>C" "r.(?)" "p.(Gly932Ala)" "" "0000943887" "00024186" "90" "1807" "0" "1807" "0" "c.1807G>T" "r.(?)" "p.(Val603Phe)" "" "0000944145" "00024186" "90" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Gly451Asp)" "" "0000944288" "00024186" "50" "1148" "0" "1148" "0" "c.1148C>T" "r.(?)" "p.(Ala707Val)" "" "0000972226" "00024186" "50" "267" "5" "267" "5" "c.267+5G>A" "r.(?)" "p.(?)" "" "0000981767" "00024186" "90" "2359" "0" "2359" "0" "c.2359G>T" "r.(?)" "p.(Glu787Ter)" "" "0000981768" "00024186" "50" "2489" "0" "2489" "0" "c.2489A>G" "r.(?)" "p.(Asn830Ser)" "" "0001002075" "00024186" "90" "399" "2" "399" "2" "c.399+2T>C" "r.spl?" "p.?" "" "0001040946" "00024186" "50" "900" "0" "900" "0" "c.900C>G" "r.(?)" "p.(Ile300Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000050387" "0000079367" "0000050403" "0000079383" "0000059158" "0000089973" "0000059158" "0000089974" "0000080097" "0000129857" "0000080140" "0000129859" "0000117746" "0000188746" "0000117746" "0000188747" "0000182046" "0000405862" "0000182046" "0000405863" "0000286271" "0000642013" "0000286272" "0000642014" "0000286273" "0000642015" "0000286274" "0000642016" "0000286275" "0000642017" "0000286276" "0000642018" "0000286277" "0000642019" "0000286278" "0000642020" "0000286279" "0000642021" "0000286280" "0000642022" "0000286281" "0000642023" "0000286282" "0000642024" "0000286283" "0000642025" "0000286284" "0000642026" "0000286285" "0000642027" "0000286286" "0000642028" "0000286287" "0000642029" "0000286288" "0000642030" "0000286289" "0000642031" "0000286290" "0000642032" "0000286291" "0000642033" "0000286292" "0000642034" "0000286293" "0000642035" "0000286294" "0000642036" "0000286295" "0000642037" "0000286296" "0000642038" "0000286297" "0000642039" "0000286298" "0000642040" "0000286299" "0000642041" "0000292589" "0000649278" "0000364469" "0000765249" "0000378787" "0000791680" "0000442596" "0000943887" "0000442811" "0000944288" "0000442818" "0000944145"