### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OTOG) # 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}}" "OTOG" "otogelin" "11" "p14.3" "unknown" "NG_033191.2" "UD_144477216410" "" "https://www.LOVD.nl/OTOG" "" "1" "8516" "340990" "604487" "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/OTOG_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-01-28 14:25:47" "00006" "2026-09-06 11:01:29" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00024096" "OTOG" "otogelin" "001" "NM_001277269.1" "" "NP_001264198.1" "" "" "" "1" "8778" "8778" "17568920" "17667491" "00001" "2016-01-11 17:56:50" "" "" "00025872" "OTOG" "transcript variant 2" "000" "NM_001292063.2" "" "NP_001278992.1" "" "" "" "-114" "8842" "8742" "17568806" "17667591" "00006" "2023-11-07 15:18:09" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{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" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "03798" "DFNB18B" "deafness, autosomal recessive, type 18b (DFNB-18B)" "AR" "614945" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-01-28 14:25:06" "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" "" "" "05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" "" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "OTOG" "03798" "OTOG" "05400" "OTOG" "05458" ## Individuals ## Do not remove or alter this header ## ## Count = 87 "{{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}}" "00056440" "" "" "" "3" "" "00552" "{PMID:Watson 2016:26733463}, {DOI:Watson 2016:10.1136/jmedgenet-2015-103620}" "3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents" "" "yes" "(United Kingdom (Great Britain))" "" "0" "" "" "white" "" "00154485" "" "" "" "3" "" "02393" "{PMID:Danial-Farran 2018:30139988}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Israel" "" "0" "" "" "" "FamDF198" "00275936" "" "" "" "1" "" "03557" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Korea" "" "0" "" "" "" "SB254-502" "00276129" "" "" "" "1" "" "03288" "{PMID:Palumbo 2020:32244554}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Italy" "11y" "0" "" "" "" "FamPatII1" "00284892" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00284893" "" "" "" "4" "" "00004" "{PMID:Schraders 2012:23122587}" "2-generation family, 4 affected brothers, unaffected heterozygous carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Fam1" "00284894" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00284895" "" "" "" "2" "" "00004" "{PMID:Schraders 2012:23122587}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "" "S1778PatII1" "00284896" "" "" "00284895" "1" "" "00004" "{PMID:Schraders 2012:23122587}" "sister" "F" "" "Spain" "" "0" "" "" "" "S1778PatII2" "00284897" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00284898" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00290318" "" "" "" "50" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290319" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290320" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290321" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290322" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290323" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290324" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290325" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290326" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295121" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304296" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327461" "" "" "" "1" "" "03980" "Doucette 2021, submitted" "Only Affected brother of a 4 member family. 1 unaffected sister and unaffected parents. Patient has an occult macular dystrophy though no RP1L1 variants were noted." "M" "" "Canada" "" "" "Yes" "" "" "M68 II-1" "00362260" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat42" "00417858" "" "" "" "3" "" "00006" "{PMID:Watson 2016:26733463}" "3 generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "United Kingdom (Great Britain)" "00y00m02d" "0" "" "" "white" "FamPatIII1" "00428674" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 2 affected (1M,1F)" "F" "no" "Ghana" "" "" "" "" "Africa" "Fam33" "00441344" "" "" "" "6" "" "00006" "{PMID:Richard 2019: 30303587}" "5-generation family, 6 affected (2F, 4M), seggregating two different genetic hearing loss condistions; 4 individuals (2F, 2M) seggregating TMPRSS3 associated hearing loss" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4372" "00465484" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465485" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00470654" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat15" "00484358" "" "" "" "3" "" "00006" "{PMID:Flynn 2026:42642215}, {PMID:Lynch 2018:29358271}" "family, 3 affected" "M" "yes" "Ireland" "" "0" "" "" "" "Fam1PatA" "00484359" "" "" "00484358" "1" "" "00006" "{PMID:Flynn 2026:42642215}" "relative" "M" "yes" "Ireland" "" "0" "" "" "" "Fam1PatB" "00484360" "" "" "00484358" "1" "" "00006" "{PMID:Flynn 2026:42642215}" "relative" "F" "yes" "Ireland" "" "0" "" "" "" "Fam1PatC" "00484361" "" "" "" "3" "" "00006" "{PMID:Flynn 2026:42642215}" "family, 3 affected" "M" "yes" "Ireland" "" "0" "" "" "" "Fam2PatA" "00484362" "" "" "00484361" "1" "" "00006" "{PMID:Flynn 2026:42642215}" "relative" "F" "yes" "Ireland" "" "0" "" "" "" "Fam2PatB" "00484363" "" "" "00484361" "1" "" "00006" "{PMID:Flynn 2026:42642215}" "relative" "M" "yes" "Ireland" "" "0" "" "" "" "Fam2PatC" "00484364" "" "" "" "2" "" "00006" "{PMID:Flynn 2026:42642215}" "family, 2 affected" "M" "yes" "Ireland" "" "0" "" "" "" "Fam3PatA" "00484365" "" "" "00484364" "1" "" "00006" "{PMID:Flynn 2026:42642215}" "relative" "M" "yes" "Ireland" "" "0" "" "" "" "Fam3PatB" "00484366" "" "" "" "1" "" "00006" "{PMID:Flynn 2026:42642215}" "family" "" "" "Ireland" "" "0" "" "" "" "Fam4" "00484367" "" "" "" "1" "" "00006" "{PMID:Flynn 2026:42642215}" "family" "" "" "Ireland" "" "0" "" "" "" "Fam5" "00484368" "" "" "" "1" "" "00006" "{PMID:Flynn 2026:42642215}" "family" "" "" "Ireland" "" "0" "" "" "" "Fam6" "00484369" "" "" "" "1" "" "00006" "{PMID:Flynn 2026:42642215}" "family" "" "" "Ireland" "" "0" "" "" "" "Fam7" "00484370" "" "" "" "2" "" "00006" "{PMID:Ganaha 2019:31645975}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "Japan" "" "0" "" "" "" "Fam48Pat078/077" "00484371" "" "" "" "2" "" "00006" "{PMID:Ganaha 2019:31645975}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "Japan" "" "0" "" "" "" "Fam57Pat095/097" "00484372" "" "" "" "2" "" "00006" "{PMID:Ganaha 2019:31645975}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam83Pat146/147" "00484373" "" "" "" "1" "" "00006" "{PMID:Ganaha 2019:31645975}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "Fam15Pat350" "00484406" "" "" "" "1" "" "00006" "{PMID:Safka Brozkova 2020:32860223}" "patient, family history" "" "" "Czech Republic" "" "0" "" "" "" "4778" "00484407" "" "" "" "1" "" "00006" "{PMID:Safka Brozkova 2020:32860223}" "patient, sporadic" "" "" "Czech Republic" "" "0" "" "" "" "211516" "00484444" "" "" "" "4" "" "00006" "{PMID:Askari 2021:34118384}" "2-generation family, 4 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "Fam101" "00484446" "" "" "" "2" "" "00006" "{PMID:Askari 2021:34118384}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "Iran" "" "0" "" "" "" "Fam201" "00484456" "" "" "" "1" "" "00006" "{PMID:Mutai 2022:35248088}" "isolated patient" "M" "" "Japan" "" "0" "" "" "" "739" "00484484" "" "" "" "4" "" "00006" "{PMID:Naddafnia 2024:38894825}" "4-generation family, 4 affected (2F, 2M)" "" "" "Iran" "" "0" "" "" "" "Fam3" "00484490" "" "" "" "1" "" "00006" "{PMID:Yu 2019:29800624}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Korea" "" "0" "" "" "" "YUHL62-21" "00484491" "" "" "" "3" "" "00006" "{PMID:Arai 2025:39858607}" "Family, 3 affected" "F" "" "Japan" "" "0" "" "" "" "Fam1PatJHLB-0441" "00484492" "" "" "00484491" "1" "" "00006" "{PMID:Arai 2025:39858607}" "brother" "M" "" "Japan" "" "0" "" "" "" "Fam1PatJHLB-0442" "00484493" "" "" "00484491" "1" "" "00006" "{PMID:Arai 2025:39858607}" "sister" "F" "" "Japan" "" "0" "" "" "" "Fam1PatJHLB-0443" "00484494" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "F" "" "Japan" "" "0" "" "" "" "Fam2PatJHLB-0580" "00484495" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "F" "" "Japan" "" "0" "" "" "" "Fam3PatJHLB-1308" "00484496" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam4PatJHLB-4118" "00484497" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam5PatJHLB-5053" "00484498" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam6PatJHLB-5086" "00484499" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam7PatJHLB-5177" "00484500" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "F" "" "Japan" "" "0" "" "" "" "Fam8PatJHLB-7360" "00484501" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam9PatJHLB-7826" "00484502" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "F" "" "Japan" "" "0" "" "" "" "Fam10PatJHLB-8343" "00484503" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam11PatJHLB-5121" "00484504" "" "" "" "2" "" "00006" "{PMID:Arai 2025:39858607}" "Family, 2 affected" "M" "" "Japan" "" "0" "" "" "" "Fam12PatJHLB-10206" "00484505" "" "" "00484504" "1" "" "00006" "{PMID:Arai 2025:39858607}" "brother" "M" "" "Japan" "" "0" "" "" "" "Fam12PatJHLB-8586" "00484506" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam13PatJHLB-4166" "00484507" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "F" "" "Japan" "" "0" "" "" "" "Fam14PatJHLB-3713" "00484508" "" "" "" "2" "" "00006" "{PMID:Arai 2025:39858607}" "Family, 2 affected" "F" "" "Japan" "" "0" "" "" "" "Fam15PatJHLB-8287" "00484509" "" "" "00484508" "1" "" "00006" "{PMID:Arai 2025:39858607}" "brother" "M" "" "Japan" "" "0" "" "" "" "Fam15PatJHLB-14540" "00484510" "" "" "" "2" "" "00006" "{PMID:Arai 2025:39858607}" "Family, 2 affected" "M" "" "Japan" "" "0" "" "" "" "Fam16PatJHLB-8554" "00484511" "" "" "00484510" "1" "" "00006" "{PMID:Arai 2025:39858607}" "brother" "M" "" "Japan" "" "0" "" "" "" "Fam16PatJHLB-8555" "00484512" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam17PatJHLB-2064" "00484513" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "F" "" "Japan" "" "0" "" "" "" "Fam18PatJHLB-4682" "00484514" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam19PatJHLB2376" "00484515" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient" "" "" "Japan" "" "0" "" "" "" "Fam20PatHL4496" "00484516" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "F" "" "Japan" "" "0" "" "" "" "Fam21PatJHLB-7763" "00484517" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "F" "" "Japan" "" "0" "" "" "" "Fam22PatJHLB-6161" "00484518" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam23PatJHLB-6369" "00484519" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "F" "" "Japan" "" "0" "" "" "" "Fam24PatJHLB-6063" "00484520" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam25PatJHLB-5379" "00484521" "" "" "" "1" "" "00006" "{PMID:Arai 2025:39858607}" "patient, no family hisotry" "M" "" "Japan" "" "0" "" "" "" "Fam26PatJHLB-4892" "00484522" "" "" "" "3" "" "00006" "{PMID:An 2025:40389292}" "2-generation family, 3 affected (sister/2 brothers), unaffected heterozygous carrier parents" "F" "yes" "United States" "" "0" "" "" "" "FamPatII1" "00484523" "" "" "00484522" "1" "" "00006" "{PMID:An 2025:40389292}" "brother" "M" "yes" "United States" "" "0" "" "" "" "FamPatII2" "00484524" "" "" "00484522" "1" "" "00006" "{PMID:An 2025:40389292}" "brother" "M" "yes" "United States" "" "0" "" "" "" "FamPatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 87 "{{individualid}}" "{{diseaseid}}" "00056440" "01666" "00154485" "03798" "00275936" "05103" "00276129" "00198" "00284892" "05103" "00284893" "05086" "00284894" "05103" "00284895" "05086" "00284896" "05086" "00284897" "05103" "00284898" "05103" "00290318" "00198" "00290319" "00198" "00290320" "00198" "00290321" "00198" "00290322" "00198" "00290323" "00198" "00290324" "00198" "00290325" "00198" "00290326" "00198" "00295121" "00198" "00304296" "00198" "00327461" "05412" "00362260" "05415" "00417858" "01666" "00428674" "03798" "00441344" "05086" "00465484" "05086" "00465485" "05086" "00470654" "07210" "00484358" "05086" "00484359" "05086" "00484360" "05086" "00484361" "05086" "00484362" "05086" "00484363" "05086" "00484364" "05086" "00484365" "05086" "00484366" "05086" "00484367" "05086" "00484368" "05086" "00484369" "05086" "00484370" "05086" "00484371" "05086" "00484372" "05086" "00484373" "05086" "00484406" "05086" "00484407" "05086" "00484444" "05086" "00484446" "05086" "00484456" "05086" "00484484" "05086" "00484490" "05086" "00484491" "05086" "00484492" "05086" "00484493" "05086" "00484494" "05086" "00484495" "05086" "00484496" "05086" "00484497" "05086" "00484498" "05086" "00484499" "05086" "00484500" "05086" "00484501" "05086" "00484502" "05086" "00484503" "05086" "00484504" "05086" "00484505" "05086" "00484506" "05086" "00484507" "05086" "00484508" "05086" "00484509" "05086" "00484510" "05086" "00484511" "05086" "00484512" "05086" "00484513" "05086" "00484514" "05086" "00484515" "05086" "00484516" "05086" "00484517" "05086" "00484518" "05086" "00484519" "05086" "00484520" "05086" "00484521" "05086" "00484522" "05086" "00484523" "05086" "00484524" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01666, 03798, 05086, 05103, 05400, 05412, 05415, 05458, 07210 ## Count = 75 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000043064" "01666" "00056440" "00006" "Familial, autosomal recessive" "00y00m00d" "see paper; data from 3 children, died <2d, ..." "00y00m00d" "" "" "" "" "" "" "" "" "" "0000127223" "02416" "00154485" "02393" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "0000210536" "05103" "00275936" "03557" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "0000210718" "00198" "00276129" "03288" "Familial, autosomal recessive" "11y" "see paper; ..., low birth weight (2330g); patent foramen ovale; delayed early psychomotor development; 7m-head control, 18m-sit, 24m-walk, never attained fully autonomous walking, no speech, no sphincter control; profound bilateral neurosensorial deafness" "" "" "" "" "" "" "" "ALAZS" "hearing loss" "" "0000218550" "05103" "00284892" "00008" "Familial, autosomal recessive" "" "hearing loss (HL), non-syndromic" "" "" "" "" "" "" "" "type 18" "deafness, autosomal recessive" "" "0000218551" "05103" "00284894" "00008" "Familial, autosomal recessive" "" "hearing loss (HL), non-syndromic" "" "" "" "" "" "" "" "type 18" "deafness, autosomal recessive" "" "0000218552" "05103" "00284897" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "type 18b" "deafness, autosomal recessive" "" "0000218553" "05103" "00284898" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "type 18" "deafness, autosomal recessive" "" "0000245750" "05412" "00327461" "03980" "Familial, autosomal recessive" "15y" "Fundus: No specific findings\r\n\r\nOCT: Normal\r\n\r\nERG:Central loss on multi-focal electroretinogram (abnormal ERG HP:0000512)\r\n\r\n- Reduced Visual Acuity 20/40 OU (HP:0007663)" "" "" "" "" "" "" "" "" "" "" "0000309231" "01666" "00417858" "00006" "Familial, autosomal recessive" "" "prenatal cystic hygroma polyhydramnios; see paper; ..., birth 35w+5, low weight; neonatal death; triangular face, downslanted palpebral fissures, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm right-sided eventration, pulmonary hypoplasia, ventilatory support; generalized muscle weakness; clinodactyly; bilateral cryptorchidism; bilateral renal pelvis distension" "" "" "" "" "" "" "" "" "perinatally lethal fetal akinesia" "" "0000319579" "03798" "00428674" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0000399" "" "" "" "" "DFNB18B" "Non-syndromic hearing impairment" "" "0000330784" "05086" "00441344" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351032" "05086" "00465484" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351033" "05086" "00465485" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000355548" "07210" "00470654" "00006" "Isolated (sporadic)" "17y" "see paper; ... scoliosis, pectus excavatum; no symptoms; no physical activity" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" "0000367136" "05086" "00484358" "00006" "Familial, autosomal recessive" "31y-40y" "see paper; ..., speech delay; mild sensorineural hearing loss (bilateral); hearing device; no persistent speech delay" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367137" "05086" "00484359" "00006" "Familial, autosomal recessive" "21y-30y" "see paper; ..., speech delay; mild-moderate sensorineural hearing loss (bilateral); down-sloping audiogram; hearing device; no persistent speech delay" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367138" "05086" "00484360" "00006" "Familial, autosomal recessive" "11y-20y" "see paper; ..., speech delay; mild-moderate sensorineural hearing loss (bilateral); down-sloping audiogram; hearing device; persistent speech delay; mild intellectual disability; unilateral sagittal craniosynostosis; epilepsy (seizure-free >10y); MRI brain normal" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367139" "05086" "00484361" "00006" "Familial, autosomal recessive" "01y-10y" "see paper; ..., failed newborn screening; mild sensorineural hearing loss (bilateral); 1y-hearing aids; no persistent speech delay" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367140" "05086" "00484362" "00006" "Familial, autosomal recessive" "00y-10y" "see paper; ..., failed newborn screening; mild-moderate sensorineural hearing loss (bilateral); down-sloping audiogram; 1y-hearing aids; persistent speech delay; autism spectrum disoreder; developmental delay; single febrile seizure; MRI brain normal" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367141" "05086" "00484363" "00006" "Familial, autosomal recessive" "00y-10y" "see paper; ..., failed newborn screening; mild-moderate sensorineural hearing loss (bilateral); down-sloping audiogram; 1y-hearing aids; no persistent speech delay" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367142" "05086" "00484364" "00006" "Familial, autosomal recessive" "00y-10y" "see paper; ..., failed newborn screening; mild-moderate sensorineural hearing loss (bilateral); U-shaped audiogram; hearing aids; no persistent speech delay" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367143" "05086" "00484365" "00006" "Familial, autosomal recessive" "00y-10y" "see paper; ..., failed newborn screening; mild-moderate sensorineural hearing loss (bilateral); down-sloping audiogram; hearing aids; no persistent speech delay" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367144" "05086" "00484366" "00006" "Familial, autosomal recessive" "" "not specified" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367145" "05086" "00484367" "00006" "Familial, autosomal recessive" "" "not specified" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367146" "05086" "00484368" "00006" "Familial, autosomal recessive" "" "not specified" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367147" "05086" "00484369" "00006" "Familial, autosomal recessive" "" "not specified" "" "" "" "" "" "" "" "" "hearing loss" "" "0000367148" "05086" "00284893" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB18B" "nonsyndromic hearing loss" "" "0000367149" "05086" "00284895" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "DFNB18B" "nonsyndromic hearing loss" "" "0000367150" "05086" "00284896" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB18B" "nonsyndromic hearing loss" "" "0000367151" "05086" "00484370" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB18B" "moderate sensorineural hearing loss" "" "0000367152" "05086" "00484371" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB18B" "moderate sensorineural hearing loss" "" "0000367153" "05086" "00484372" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB18B" "moderate sensorineural hearing loss" "" "0000367154" "05086" "00484373" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "DFNB18B" "moderate sensorineural hearing loss" "" "0000367187" "05086" "00484406" "00006" "Familial, autosomal recessive" "" "moderate hearing loss; onset prelingual" "" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367188" "05086" "00484407" "00006" "Familial, autosomal recessive" "" "moderate hearing loss" "" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367225" "05086" "00484444" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral severe-profound hearing loss, no visual impairment, no facial anomalies, no limb abnormalities" "" "" "" "" "" "" "" "DFNB18B" "non-syndromic hearing loss" "" "0000367227" "05086" "00484446" "00006" "Familial, autosomal recessive" "" "see paper; ..., 9m-hearing loss, severe-profound bilateral hearing loss; no additional clinical symptoms" "" "" "" "" "" "" "" "DFNB18B" "nonsyndromic hearing loss" "" "0000367237" "05086" "00484456" "00006" "Familial, autosomal recessive" "" "moderate hearing loss; flat audiogram; no fluctuation; hearing loss not progressive; no vestibular defect; normal inner ear morphology" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367265" "05086" "00484484" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367271" "05086" "00484490" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., failed newborn hearing screening automated auditory brainstem response; no delayed speech development; 5y-hearing difficulty, mild sensorineural hearing loss, decreased threshold pure-tone audiometry" "" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367272" "05086" "00484491" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., moderate hearing loss; HF gentle hearing loss; fluctuation; hearing loss not progressive; no tinnitus; vertigo; uses hearing aids" "9y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367273" "05086" "00484492" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., mild hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo; no hearing aids" "10y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367274" "05086" "00484493" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., moderate hearing loss; HF gentle hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo; no hearing aids" "7y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367275" "05086" "00484494" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., moderate hearing loss; flat hearing loss; no tinnitus; no vertigo" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367276" "05086" "00484495" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., moderate hearing loss; flat hearing loss; fluctuation; progressive hearing loss; no tinnitus; no vertigo; uses hearing aids" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367277" "05086" "00484496" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., moderate hearing loss; flat hearing loss; progressive hearing loss" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367278" "05086" "00484497" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., mild hearing loss; HF gentle hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo; uses hearing aids" "1y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367279" "05086" "00484498" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., moderate hearing loss; flat hearing loss; no tinnitus; no vertigo; no hearing aids" "5y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367280" "05086" "00484499" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., moderate hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo; uses hearing aids" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367281" "05086" "00484500" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., mild hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo; uses hearing aids" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367282" "05086" "00484501" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., moderate hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; uses hearing aids" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367283" "05086" "00484502" "00006" "Familial, autosomal recessive" "4y" "see paper; ..., moderate hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo; uses hearing aids" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367284" "05086" "00484503" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., mild hearing loss; HF gentle hearing loss; fluctuation; progressive hearing loss; tinnitus; no vertigo" "20y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367285" "05086" "00484504" "00006" "Familial, autosomal recessive" "1y" "see paper; ..., moderate hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367286" "05086" "00484505" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., moderate hearing loss; flat hearing loss; no fluctuation; progressive hearing loss; no tinnitus; no vertigo" "5y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367287" "05086" "00484506" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., moderate hearing loss; flat hearing loss; hearing loss not progressive; no tinnitus; no vertigo; no hearing aids" "5y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367288" "05086" "00484507" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., mild hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo" "5y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367289" "05086" "00484508" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., mild hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo; uses hearing aids" "8y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367290" "05086" "00484509" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., mild hearing loss; flat hearing loss" "6y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367291" "05086" "00484510" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., mild hearing loss; flat hearing loss; no fluctuation; progressive hearing loss; no tinnitus; no vertigo" "7y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367292" "05086" "00484511" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., moderate hearing loss; HF gentle hearing loss; no fluctuation; progressive hearing loss; no tinnitus; no vertigo" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367293" "05086" "00484512" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., no fluctuation; hearing loss not progressive; no tinnitus; no vertigo" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367294" "05086" "00484513" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., moderate hearing loss; flat hearing loss; no fluctuation; no tinnitus; no vertigo; uses hearing aids" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367295" "05086" "00484514" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., moderate hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo; uses hearing aids" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367296" "05086" "00484515" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367297" "05086" "00484516" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., mild hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo" "6y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367298" "05086" "00484517" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., moderate hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo; uses hearing aids" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367299" "05086" "00484518" "00006" "Familial, autosomal recessive" "44y" "see paper; ..., moderate hearing loss; flat hearing loss; fluctuation; progressive hearing loss; tinnitus; no vertigo" "30y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367300" "05086" "00484519" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., moderate hearing loss; HF gentle hearing loss; no fluctuation; hearing loss not progressive; uses hearing aids" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367301" "05086" "00484520" "00006" "Familial, autosomal recessive" "0y" "see paper; ..., mild hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo" "0y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367302" "05086" "00484521" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., moderate hearing loss; flat hearing loss; no fluctuation; hearing loss not progressive; no tinnitus; no vertigo" "5y" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367303" "05086" "00484522" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral normal downsloping to mild-moderate sensorineural hearing loss; speech delay; MRI ear normal; no other phenotypes" "" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367304" "05086" "00484523" "00006" "Familial, autosomal recessive" "" "see paper; ..., bilateral symmetric downsloping mild-moderate sensorineural hearing loss; no other phenotypes" "" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" "0000367305" "05086" "00484524" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild sensorineural hearing loss; no other phenotypes" "" "" "" "" "" "" "" "DFNB18B" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 87 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056401" "00056440" "1" "00552" "00552" "2016-01-08 15:39:41" "00006" "2016-01-09 02:57:10" "SEQ;SEQ-NG" "DNA" "" "" "0000155345" "00154485" "1" "02393" "02393" "2018-02-26 09:21:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000277089" "00275936" "1" "03557" "03557" "2020-01-21 09:14:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000277275" "00276129" "1" "03288" "03288" "2020-01-28 13:20:52" "" "" "SEQ-NG" "DNA" "" "" "0000286042" "00284892" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286043" "00284893" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286044" "00284894" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286045" "00284895" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2026-09-04 13:44:32" "SEQ" "DNA" "" "" "0000286046" "00284896" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2026-09-04 13:40:54" "SEQ" "DNA" "" "" "0000286047" "00284897" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286048" "00284898" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000291486" "00290318" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291487" "00290319" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291488" "00290320" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291489" "00290321" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291490" "00290322" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291491" "00290323" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291492" "00290324" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291493" "00290325" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291494" "00290326" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296289" "00295121" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305425" "00304296" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328674" "00327461" "1" "03980" "03980" "2021-01-21 20:49:01" "" "" "SEQ-NG" "DNA" "" "" "0000363489" "00362260" "1" "02404" "02404" "2021-04-18 11:15:35" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000419153" "00417858" "1" "00006" "00006" "2022-09-27 08:32:46" "" "" "arraySNP;SEQ;SEQ-NG-I" "DNA" "" "WES" "0000430087" "00428674" "1" "04147" "04147" "2023-01-06 14:20:56" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000442830" "00441344" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467133" "00465484" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467134" "00465485" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000472321" "00470654" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486007" "00484358" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486008" "00484359" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486009" "00484360" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486010" "00484361" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ" "DNA" "" "" "0000486011" "00484362" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ" "DNA" "" "" "0000486012" "00484363" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ" "DNA" "" "" "0000486013" "00484364" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ" "DNA" "" "" "0000486014" "00484365" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ" "DNA" "" "" "0000486015" "00484366" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ" "DNA" "" "" "0000486016" "00484367" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ" "DNA" "" "" "0000486017" "00484368" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ" "DNA" "" "" "0000486018" "00484369" "1" "00006" "00006" "2026-09-04 13:27:26" "" "" "SEQ" "DNA" "" "" "0000486019" "00484370" "1" "00006" "00006" "2026-09-04 14:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "98-gene panel" "0000486020" "00484371" "1" "00006" "00006" "2026-09-04 14:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "98-gene panel" "0000486021" "00484372" "1" "00006" "00006" "2026-09-04 14:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "98-gene panel" "0000486022" "00484373" "1" "00006" "00006" "2026-09-04 14:27:05" "" "" "SEQ;SEQ-NG" "DNA" "" "98-gene panel" "0000486055" "00484406" "1" "00006" "00006" "2026-09-04 16:23:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000486056" "00484407" "1" "00006" "00006" "2026-09-04 16:23:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000486093" "00484444" "1" "00006" "00006" "2026-09-04 18:35:29" "" "" "SEQ-NG" "DNA" "" "WES" "0000486094" "00484446" "1" "00006" "00006" "2026-09-04 18:40:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000486105" "00484456" "1" "00006" "00006" "2026-09-05 16:26:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486133" "00484484" "1" "00006" "00006" "2026-09-05 20:01:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486139" "00484490" "1" "00006" "00006" "2026-09-06 09:40:33" "" "" "SEQ" "DNA" "" "WES" "0000486140" "00484491" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486141" "00484492" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486142" "00484493" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486143" "00484494" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486144" "00484495" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486145" "00484496" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486146" "00484497" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486147" "00484498" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486148" "00484499" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486149" "00484500" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486150" "00484501" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486151" "00484502" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486152" "00484503" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486153" "00484504" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486154" "00484505" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486155" "00484506" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486156" "00484507" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486157" "00484508" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486158" "00484509" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486159" "00484510" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486160" "00484511" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486161" "00484512" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486162" "00484513" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486163" "00484514" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486164" "00484515" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486165" "00484516" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486166" "00484517" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486167" "00484518" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486168" "00484519" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486169" "00484520" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486170" "00484521" "1" "00006" "00006" "2026-09-06 09:51:21" "" "" "SEQ;SEQ-NG" "DNA" "" "158-gene panel" "0000486171" "00484522" "1" "00006" "00006" "2026-09-06 10:04:25" "" "" "SEQ-NG" "DNA" "" "gene panel hearing loss" "0000486172" "00484523" "1" "00006" "00006" "2026-09-06 10:04:25" "" "" "SEQ-NG" "DNA" "" "gene panel hearing loss" "0000486173" "00484524" "1" "00006" "00006" "2026-09-06 10:04:25" "" "" "SEQ-NG" "DNA" "" "gene panel hearing loss" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000056401" "MYOD1" "0000056401" "OTOG" "0000277089" "OTOG" "0000277275" "OTOG" "0000286042" "OTOG" "0000286043" "OTOG" "0000286044" "OTOG" "0000286045" "OTOG" "0000286046" "OTOG" "0000286047" "OTOG" "0000286048" "OTOG" "0000486010" "OTOG" "0000486011" "OTOG" "0000486012" "OTOG" "0000486013" "OTOG" "0000486014" "OTOG" "0000486015" "OTOG" "0000486016" "OTOG" "0000486017" "OTOG" "0000486018" "OTOG" ## 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 = 322 "{{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}}" "0000086649" "3" "30" "11" "17615244" "17615244" "subst" "0.000735449" "00006" "OTOG_000001" "g.17615244A>G" "" "{PMID:Watson 2016:26733463}, {DOI:Watson 2016:10.1136/jmedgenet-2015-103620}" "" "" "" "Germline" "" "" "0" "" "" "g.17593697A>G" "" "likely benign" "" "0000254478" "0" "30" "11" "17615244" "17615244" "subst" "0.000735449" "01943" "OTOG_000001" "g.17615244A>G" "" "" "" "OTOG(NM_001277269.1):c.3265A>G (p.I1089V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17593697A>G" "" "likely benign" "" "0000255053" "0" "30" "11" "17631573" "17631573" "subst" "0.000105123" "01943" "OTOG_000042" "g.17631573A>G" "" "" "" "OTOG(NM_001277269.1):c.4762A>G (p.T1588A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17610026A>G" "" "likely benign" "" "0000296696" "0" "10" "11" "17593709" "17593709" "subst" "0.390195" "02325" "OTOG_000003" "g.17593709T>C" "" "" "" "OTOG(NM_001277269.2):c.2074T>C (p.S692P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17572162T>C" "" "benign" "" "0000296697" "0" "10" "11" "17596313" "17596313" "subst" "0.337208" "02325" "OTOG_000006" "g.17596313G>A" "" "" "" "OTOG(NM_001277269.2):c.2376G>A (p.P792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17574766G>A" "" "benign" "" "0000296698" "0" "10" "11" "17598191" "17598191" "subst" "0.336803" "02325" "OTOG_000007" "g.17598191G>A" "" "" "" "OTOG(NM_001277269.2):c.2597+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17576644G>A" "" "benign" "" "0000296699" "0" "10" "11" "17600033" "17600033" "subst" "0.323035" "02325" "OTOG_000008" "g.17600033G>A" "" "" "" "OTOG(NM_001277269.2):c.2755G>A (p.A919T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17578486G>A" "" "benign" "" "0000296700" "0" "10" "11" "17615203" "17615203" "subst" "0.151024" "02325" "OTOG_000009" "g.17615203G>A" "" "" "" "OTOG(NM_001277269.2):c.3224G>A (p.R1075Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17593656G>A" "" "benign" "" "0000296701" "0" "10" "11" "17615728" "17615728" "subst" "0.1522" "02325" "OTOG_000010" "g.17615728C>T" "" "" "" "OTOG(NM_001277269.2):c.3444+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17594181C>T" "" "benign" "" "0000296702" "0" "10" "11" "17627613" "17627613" "subst" "0.754796" "02325" "OTOG_000011" "g.17627613G>C" "" "" "" "OTOG(NM_001277269.2):c.4123G>C (p.A1375P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17606066G>C" "" "benign" "" "0000296703" "0" "10" "11" "17631751" "17631751" "subst" "0.353023" "02325" "OTOG_000014" "g.17631751C>T" "" "" "" "OTOG(NM_001277269.2):c.4940C>T (p.P1647L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17610204C>T" "" "benign" "" "0000296704" "0" "10" "11" "17632651" "17632651" "subst" "0.346488" "02325" "OTOG_000016" "g.17632651C>T" "" "" "" "OTOG(NM_001277269.2):c.5840C>T (p.T1947M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17611104C>T" "" "benign" "" "0000296705" "0" "10" "11" "17656686" "17656686" "subst" "0.13332" "02325" "OTOG_000018" "g.17656686C>T" "" "" "" "OTOG(NM_001277269.2):c.7681C>T (p.L2561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17635139C>T" "" "benign" "" "0000296706" "0" "10" "11" "17663444" "17663444" "subst" "0.2926" "02325" "OTOG_000020" "g.17663444C>T" "" "" "" "OTOG(NM_001277269.2):c.8277C>T (p.C2759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17641897C>T" "" "benign" "" "0000296707" "0" "10" "11" "17663742" "17663742" "subst" "0.295406" "02325" "OTOG_000021" "g.17663742G>C" "" "" "" "OTOG(NM_001277269.2):c.8400G>C (p.L2800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17642195G>C" "" "benign" "" "0000304872" "0" "30" "11" "17593717" "17593717" "subst" "0" "01943" "OTOG_000004" "g.17593717C>T" "" "" "" "OTOG(NM_001277269.1):c.2082C>T (p.S694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17572170C>T" "" "likely benign" "" "0000304873" "0" "30" "11" "17594758" "17594758" "subst" "0.00175028" "01943" "OTOG_000005" "g.17594758C>T" "" "" "" "OTOG(NM_001277269.1):c.2250C>T (p.C750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17573211C>T" "" "likely benign" "" "0000304874" "0" "30" "11" "17631473" "17631473" "subst" "6.37298E-5" "01943" "OTOG_000012" "g.17631473C>T" "" "" "" "OTOG(NM_001277269.1):c.4662C>T (p.P1554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17609926C>T" "" "likely benign" "" "0000304875" "0" "90" "11" "17631504" "17631504" "subst" "0" "01943" "OTOG_000013" "g.17631504G>T" "" "" "" "OTOG(NM_001277269.1):c.4693G>T (p.G1565*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17609957G>T" "" "pathogenic" "" "0000304876" "0" "30" "11" "17632192" "17632192" "subst" "0.00162193" "01943" "OTOG_000015" "g.17632192T>C" "" "" "" "OTOG(NM_001277269.1):c.5381T>C (p.L1794P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17610645T>C" "" "likely benign" "" "0000304877" "0" "50" "11" "17633764" "17633764" "subst" "0.00077283" "01943" "OTOG_000017" "g.17633764G>A" "" "" "" "OTOG(NM_001277269.1):c.6215G>A (p.R2072H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17612217G>A" "" "VUS" "" "0000304878" "0" "50" "11" "17656699" "17656699" "subst" "0.000199389" "01943" "OTOG_000019" "g.17656699G>C" "" "" "" "OTOG(NM_001277269.1):c.7694G>C (p.R2565P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17635152G>C" "" "VUS" "" "0000304879" "0" "30" "11" "17578848" "17578848" "subst" "0.00381679" "01943" "OTOG_000002" "g.17578848G>A" "" "" "" "OTOG(NM_001277269.1):c.879G>A (p.K293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17557301G>A" "" "likely benign" "" "0000336864" "0" "10" "11" "17580050" "17580050" "subst" "0.133477" "02327" "OTOG_000027" "g.17580050A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17558503A>C" "" "benign" "" "0000336865" "0" "10" "11" "17598187" "17598187" "subst" "0.329688" "02327" "OTOG_000030" "g.17598187G>A" "" "" "" "OTOG(NM_001277269.2):c.2597+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17576640G>A" "" "benign" "" "0000336866" "0" "10" "11" "17598191" "17598191" "subst" "0.336803" "02327" "OTOG_000007" "g.17598191G>A" "" "" "" "OTOG(NM_001277269.2):c.2597+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17576644G>A" "" "benign" "" "0000336867" "0" "10" "11" "17615728" "17615728" "subst" "0.1522" "02327" "OTOG_000010" "g.17615728C>T" "" "" "" "OTOG(NM_001277269.2):c.3444+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17594181C>T" "" "benign" "" "0000336868" "0" "10" "11" "17655839" "17655839" "subst" "0.126447" "02327" "OTOG_000037" "g.17655839A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17634292A>T" "" "benign" "" "0000337360" "0" "90" "11" "17618555" "17618555" "subst" "0.000237779" "02327" "OTOG_000031" "g.17618555G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17597008G>A" "" "pathogenic" "" "0000337361" "0" "90" "11" "17618556" "17618556" "subst" "0" "02327" "OTOG_000032" "g.17618556T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17597009T>C" "" "pathogenic" "" "0000339206" "0" "10" "11" "17656686" "17656686" "subst" "0.13332" "02327" "OTOG_000018" "g.17656686C>T" "" "" "" "OTOG(NM_001277269.2):c.7681C>T (p.L2561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17635139C>T" "" "benign" "" "0000339207" "0" "10" "11" "17663444" "17663444" "subst" "0.2926" "02327" "OTOG_000020" "g.17663444C>T" "" "" "" "OTOG(NM_001277269.2):c.8277C>T (p.C2759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17641897C>T" "" "benign" "" "0000339208" "0" "10" "11" "17663742" "17663742" "subst" "0.295406" "02327" "OTOG_000021" "g.17663742G>C" "" "" "" "OTOG(NM_001277269.2):c.8400G>C (p.L2800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17642195G>C" "" "benign" "" "0000341156" "0" "10" "11" "17627613" "17627613" "subst" "0.754796" "02327" "OTOG_000011" "g.17627613G>C" "" "" "" "OTOG(NM_001277269.2):c.4123G>C (p.A1375P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17606066G>C" "" "benign" "" "0000341231" "0" "10" "11" "17632306" "17632306" "subst" "0.129002" "02327" "OTOG_000033" "g.17632306C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17610759C>T" "" "benign" "" "0000341369" "0" "10" "11" "17579783" "17579783" "subst" "0.143688" "02327" "OTOG_000025" "g.17579783C>A" "" "" "" "OTOG(NM_001277269.2):c.953C>A (p.A318D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17558236C>A" "" "benign" "" "0000341625" "0" "10" "11" "17600033" "17600033" "subst" "0.323035" "02327" "OTOG_000008" "g.17600033G>A" "" "" "" "OTOG(NM_001277269.2):c.2755G>A (p.A919T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17578486G>A" "" "benign" "" "0000341697" "0" "10" "11" "17615203" "17615203" "subst" "0.151024" "02327" "OTOG_000009" "g.17615203G>A" "" "" "" "OTOG(NM_001277269.2):c.3224G>A (p.R1075Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17593656G>A" "" "benign" "" "0000342274" "0" "90" "11" "17635243" "17635243" "subst" "4.84483E-5" "02327" "OTOG_000034" "g.17635243C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17613696C>T" "" "pathogenic" "" "0000342405" "0" "90" "11" "17655766" "17655766" "del" "0.000247865" "02327" "OTOG_000035" "g.17655766del" "" "" "" "OTOG(NM_001277269.1):c.7454delG (p.R2485Hfs*77)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17634219del" "" "pathogenic" "" "0000342507" "0" "10" "11" "17663416" "17663416" "subst" "0.128976" "02327" "OTOG_000040" "g.17663416G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17641869G>A" "" "benign" "" "0000343981" "0" "50" "11" "17577335" "17577335" "subst" "0.00010446" "02327" "OTOG_000024" "g.17577335G>A" "" "" "" "OTOG(NM_001277269.1):c.586G>A (p.D196N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17555788G>A" "" "VUS" "" "0000344034" "0" "50" "11" "17662573" "17662573" "subst" "0.00029135" "02327" "OTOG_000039" "g.17662573G>A" "" "" "" "OTOG(NM_001277269.1):c.8161G>A (p.D2721N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17641026G>A" "" "VUS" "" "0000344772" "0" "90" "11" "17579839" "17579839" "subst" "0" "02327" "OTOG_000026" "g.17579839C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17558292C>T" "" "pathogenic" "" "0000344985" "0" "90" "11" "17596437" "17596437" "subst" "0.000384238" "02327" "OTOG_000029" "g.17596437C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17574890C>T" "" "pathogenic" "" "0000345731" "0" "50" "11" "17574923" "17574923" "subst" "0.000565219" "02327" "OTOG_000023" "g.17574923G>A" "" "" "" "OTOG(NM_001277269.1):c.433G>A (p.G145S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17553376G>A" "" "VUS" "" "0000348230" "0" "10" "11" "17631751" "17631751" "subst" "0.353023" "02327" "OTOG_000014" "g.17631751C>T" "" "" "" "OTOG(NM_001277269.2):c.4940C>T (p.P1647L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17610204C>T" "" "benign" "" "0000349139" "0" "10" "11" "17593709" "17593709" "subst" "0.390195" "02327" "OTOG_000003" "g.17593709T>C" "" "" "" "OTOG(NM_001277269.2):c.2074T>C (p.S692P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17572162T>C" "" "benign" "" "0000349347" "0" "10" "11" "17632651" "17632651" "subst" "0.346488" "02327" "OTOG_000016" "g.17632651C>T" "" "" "" "OTOG(NM_001277269.2):c.5840C>T (p.T1947M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17611104C>T" "" "benign" "" "0000349481" "0" "10" "11" "17580175" "17580175" "subst" "0.121025" "02327" "OTOG_000028" "g.17580175A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17558628A>T" "" "benign" "" "0000350782" "0" "50" "11" "17655829" "17655831" "del" "0" "02327" "OTOG_000036" "g.17655829_17655831del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17634282_17634284del" "" "VUS" "" "0000350978" "0" "90" "11" "17574910" "17574910" "subst" "0" "02327" "OTOG_000022" "g.17574910A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17553363A>G" "" "pathogenic" "" "0000355059" "3" "90" "11" "17655765" "17655765" "subst" "2.12456E-5" "02393" "OTOG_000041" "g.17655765C>T" "" "{PMID:Danial-Farran 2018:30139988}" "" "" "not in 220 control chromosomes" "Germline" "yes" "" "0" "" "" "g.17634218C>T" "" "pathogenic (recessive)" "" "0000543233" "0" "30" "11" "17574691" "17574691" "subst" "3.5103E-5" "01943" "OTOG_000043" "g.17574691C>T" "" "" "" "OTOG(NM_001277269.1):c.354C>T (p.G118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17553144C>T" "" "likely benign" "" "0000543234" "0" "50" "11" "17574758" "17574758" "subst" "0.000844844" "01943" "OTOG_000044" "g.17574758G>A" "" "" "" "OTOG(NM_001277269.1):c.421G>A (p.V141M), OTOG(NM_001292063.2):c.385G>A (p.(Val129Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17553211G>A" "" "VUS" "" "0000543235" "0" "50" "11" "17574927" "17574927" "subst" "2.57725E-5" "01943" "OTOG_000045" "g.17574927C>G" "" "" "" "OTOG(NM_001277269.1):c.437C>G (p.P146R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17553380C>G" "" "VUS" "" "0000543236" "0" "10" "11" "17575060" "17575060" "subst" "0.00114862" "01943" "OTOG_000046" "g.17575060C>T" "" "" "" "OTOG(NM_001277269.1):c.570C>T (p.S190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17553513C>T" "" "benign" "" "0000543237" "0" "10" "11" "17579783" "17579783" "subst" "0.143688" "02325" "OTOG_000025" "g.17579783C>A" "" "" "" "OTOG(NM_001277269.2):c.953C>A (p.A318D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17558236C>A" "" "benign" "" "0000543238" "0" "30" "11" "17579800" "17579800" "subst" "2.08542E-5" "01943" "OTOG_000047" "g.17579800G>A" "" "" "" "OTOG(NM_001277269.1):c.970G>A (p.G324R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17558253G>A" "" "likely benign" "" "0000543239" "0" "50" "11" "17580670" "17580670" "subst" "2.96608E-5" "01943" "OTOG_000048" "g.17580670G>A" "" "" "" "OTOG(NM_001277269.1):c.1211G>A (p.R404Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17559123G>A" "" "VUS" "" "0000543240" "0" "50" "11" "17581153" "17581153" "subst" "0.000809162" "01943" "OTOG_000049" "g.17581153G>A" "" "" "" "OTOG(NM_001277269.1):c.1322G>A (p.R441Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17559606G>A" "" "VUS" "" "0000543241" "0" "30" "11" "17582266" "17582266" "subst" "0.000591321" "01943" "OTOG_000050" "g.17582266C>A" "" "" "" "OTOG(NM_001277269.1):c.1389C>A (p.F463L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17560719C>A" "" "likely benign" "" "0000543242" "0" "50" "11" "17582315" "17582315" "subst" "1.38541E-5" "01943" "OTOG_000051" "g.17582315G>A" "" "" "" "OTOG(NM_001277269.1):c.1438G>A (p.G480R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17560768G>A" "" "VUS" "" "0000543243" "0" "50" "11" "17591998" "17591998" "subst" "0" "02327" "OTOG_000052" "g.17591998T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17570451T>A" "" "VUS" "" "0000543244" "0" "30" "11" "17594616" "17594616" "subst" "0" "01943" "OTOG_000053" "g.17594616C>T" "" "" "" "OTOG(NM_001277269.1):c.2117-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17573069C>T" "" "likely benign" "" "0000543245" "0" "50" "11" "17594793" "17594793" "subst" "0.000217743" "01943" "OTOG_000054" "g.17594793G>A" "" "" "" "OTOG(NM_001277269.1):c.2285G>A (p.R762H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17573246G>A" "" "VUS" "" "0000543246" "0" "30" "11" "17594822" "17594822" "subst" "0" "01943" "OTOG_000055" "g.17594822C>G" "" "" "" "OTOG(NM_001277269.1):c.2314C>G (p.R772G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17573275C>G" "" "likely benign" "" "0000543247" "0" "10" "11" "17596371" "17596371" "subst" "0.000594381" "01943" "OTOG_000056" "g.17596371G>A" "" "" "" "OTOG(NM_001277269.1):c.2434G>A (p.D812N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17574824G>A" "" "benign" "" "0000543248" "0" "10" "11" "17598187" "17598187" "subst" "0.329688" "02325" "OTOG_000030" "g.17598187G>A" "" "" "" "OTOG(NM_001277269.2):c.2597+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17576640G>A" "" "benign" "" "0000543249" "0" "30" "11" "17599971" "17599971" "subst" "0.000222473" "01943" "OTOG_000057" "g.17599971C>T" "" "" "" "OTOG(NM_001277269.1):c.2693C>T (p.T898M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17578424C>T" "" "likely benign" "" "0000543250" "0" "30" "11" "17600037" "17600037" "subst" "0.00328219" "01943" "OTOG_000058" "g.17600037G>T" "" "" "" "OTOG(NM_001277269.1):c.2759G>T (p.R920L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17578490G>T" "" "likely benign" "" "0000543251" "0" "50" "11" "17615158" "17615158" "subst" "0.000310919" "01943" "OTOG_000059" "g.17615158G>A" "" "" "" "OTOG(NM_001277269.1):c.3179G>A (p.S1060N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17593611G>A" "" "VUS" "" "0000543252" "0" "50" "11" "17615640" "17615640" "subst" "0.000146181" "01943" "OTOG_000060" "g.17615640A>G" "" "" "" "OTOG(NM_001277269.1):c.3371A>G (p.N1124S, p.(Asn1124Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17594093A>G" "" "VUS" "" "0000543253" "0" "10" "11" "17617599" "17617599" "subst" "0.00172764" "01943" "OTOG_000061" "g.17617599C>T" "" "" "" "OTOG(NM_001277269.1):c.3459C>T (p.L1153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17596052C>T" "" "benign" "" "0000543254" "0" "10" "11" "17617711" "17617711" "subst" "0.00100999" "01943" "OTOG_000062" "g.17617711C>A" "" "" "" "OTOG(NM_001277269.1):c.3561+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17596164C>A" "" "benign" "" "0000543255" "0" "30" "11" "17627548" "17627548" "subst" "0.00238202" "01943" "OTOG_000063" "g.17627548G>A" "" "" "" "OTOG(NM_001277269.1):c.4058G>A (p.R1353Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17606001G>A" "" "likely benign" "" "0000543256" "0" "50" "11" "17629951" "17629951" "subst" "7.57966E-6" "01943" "OTOG_000064" "g.17629951A>T" "" "" "" "OTOG(NM_001277269.1):c.4301A>T (p.D1434V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17608404A>T" "" "VUS" "" "0000543257" "0" "90" "11" "17629962" "17629962" "subst" "0" "02327" "OTOG_000065" "g.17629962T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17608415T>G" "" "pathogenic" "" "0000543258" "0" "30" "11" "17631488" "17631488" "subst" "0.000305979" "01943" "OTOG_000066" "g.17631488G>T" "" "" "" "OTOG(NM_001277269.1):c.4677G>T (p.E1559D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17609941G>T" "" "likely benign" "" "0000543259" "0" "30" "11" "17631543" "17631543" "subst" "0" "01943" "OTOG_000067" "g.17631543G>A" "" "" "" "OTOG(NM_001277269.1):c.4732G>A (p.E1578K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17609996G>A" "" "likely benign" "" "0000543260" "0" "50" "11" "17631715" "17631715" "subst" "6.26191E-5" "01943" "OTOG_000068" "g.17631715G>A" "" "" "" "OTOG(NM_001277269.1):c.4904G>A (p.R1635Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17610168G>A" "" "VUS" "" "0000543261" "0" "30" "11" "17632082" "17632082" "subst" "0.00592836" "01943" "OTOG_000069" "g.17632082C>A" "" "" "" "OTOG(NM_001277269.1):c.5271C>A (p.L1757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17610535C>A" "" "likely benign" "" "0000543262" "0" "10" "11" "17632615" "17632615" "subst" "0.00161244" "01943" "OTOG_000070" "g.17632615T>C" "" "" "" "OTOG(NM_001277269.1):c.5804T>C (p.M1935T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17611068T>C" "" "benign" "" "0000543263" "0" "30" "11" "17632661" "17632661" "subst" "5.66564E-5" "01943" "OTOG_000071" "g.17632661G>A" "" "" "" "OTOG(NM_001277269.1):c.5850G>A (p.T1950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17611114G>A" "" "likely benign" "" "0000543264" "0" "10" "11" "17632675" "17632675" "subst" "0.00143451" "01943" "OTOG_000072" "g.17632675C>T" "" "" "" "OTOG(NM_001277269.1):c.5864C>T (p.T1955M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17611128C>T" "" "benign" "" "0000543265" "0" "30" "11" "17632736" "17632736" "subst" "3.50508E-5" "01943" "OTOG_000073" "g.17632736C>T" "" "" "" "OTOG(NM_001277269.1):c.5925C>T (p.S1975=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17611189C>T" "" "likely benign" "" "0000543266" "0" "30" "11" "17633715" "17633715" "subst" "0.000133795" "01943" "OTOG_000074" "g.17633715G>A" "" "" "" "OTOG(NM_001277269.1):c.6166G>A (p.A2056T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17612168G>A" "" "likely benign" "" "0000543267" "0" "50" "11" "17650687" "17650687" "subst" "0.000364013" "01943" "OTOG_000075" "g.17650687T>C" "" "" "" "OTOG(NM_001277269.1):c.6572T>C (p.V2191A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17629140T>C" "" "VUS" "" "0000543268" "0" "50" "11" "17650726" "17650726" "subst" "1.39303E-5" "02327" "OTOG_000076" "g.17650726G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17629179G>T" "" "VUS" "" "0000543269" "0" "90" "11" "17653297" "17653297" "subst" "0" "02327" "OTOG_000077" "g.17653297C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17631750C>A" "" "pathogenic" "" "0000543270" "0" "50" "11" "17653386" "17653386" "subst" "0.000328272" "01943" "OTOG_000078" "g.17653386C>T" "" "" "" "OTOG(NM_001277269.1):c.6886C>T (p.R2296C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17631839C>T" "" "VUS" "" "0000543271" "0" "50" "11" "17653443" "17653443" "subst" "0.001147" "01943" "OTOG_000079" "g.17653443C>T" "" "" "" "OTOG(NM_001277269.1):c.6943C>T (p.R2315C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17631896C>T" "" "VUS" "" "0000543272" "0" "50" "11" "17653683" "17653683" "subst" "0" "01943" "OTOG_000080" "g.17653683G>A" "" "" "" "OTOG(NM_001277269.1):c.7018G>A (p.V2340M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17632136G>A" "" "VUS" "" "0000543273" "0" "50" "11" "17655383" "17655383" "subst" "0.00119058" "01943" "OTOG_000081" "g.17655383G>A" "" "" "" "OTOG(NM_001277269.1):c.7265G>A (p.R2422Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17633836G>A" "" "VUS" "" "0000543274" "0" "90" "11" "17655766" "17655766" "del" "0.000247865" "01943" "OTOG_000035" "g.17655766del" "" "" "" "OTOG(NM_001277269.1):c.7454delG (p.R2485Hfs*77)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17634219del" "" "pathogenic" "" "0000543275" "0" "90" "11" "17656416" "17656422" "del" "0" "02327" "OTOG_000082" "g.17656416_17656422del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17634869_17634875del" "" "pathogenic" "" "0000543276" "0" "90" "11" "17656444" "17656444" "del" "0" "01943" "OTOG_000083" "g.17656444del" "" "" "" "OTOG(NM_001277269.1):c.7570delC (p.R2524Afs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17634897del" "" "pathogenic" "" "0000543277" "0" "30" "11" "17656452" "17656452" "subst" "0.00022804" "01943" "OTOG_000084" "g.17656452C>G" "" "" "" "OTOG(NM_001277269.1):c.7578C>G (p.L2526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17634905C>G" "" "likely benign" "" "0000543278" "0" "30" "11" "17656672" "17656672" "subst" "0.00277704" "01943" "OTOG_000085" "g.17656672G>A" "" "" "" "OTOG(NM_001277269.1):c.7667G>A (p.R2556Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17635125G>A" "" "likely benign" "" "0000543279" "0" "90" "11" "17656735" "17656735" "subst" "0.000689243" "01943" "OTOG_000086" "g.17656735G>A" "" "" "" "OTOG(NM_001277269.1):c.7729+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17635188G>A" "" "pathogenic" "" "0000543280" "0" "10" "11" "17660027" "17660027" "subst" "0.000994774" "01943" "OTOG_000087" "g.17660027C>A" "" "" "" "OTOG(NM_001277269.1):c.7861C>A (p.Q2621K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17638480C>A" "" "benign" "" "0000543281" "0" "30" "11" "17660069" "17660069" "subst" "0.000503454" "01943" "OTOG_000088" "g.17660069G>A" "" "" "" "OTOG(NM_001277269.1):c.7903G>A (p.D2635N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17638522G>A" "" "likely benign" "" "0000543282" "0" "10" "11" "17662483" "17662483" "subst" "0.00090342" "01943" "OTOG_000089" "g.17662483C>T" "" "" "" "OTOG(NM_001277269.1):c.8071C>T (p.R2691C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17640936C>T" "" "benign" "" "0000543283" "0" "50" "11" "17662555" "17662555" "subst" "4.26639E-5" "01943" "OTOG_000090" "g.17662555C>T" "" "" "" "OTOG(NM_001277269.1):c.8143C>T (p.R2715C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17641008C>T" "" "VUS" "" "0000543284" "0" "10" "11" "17662616" "17662616" "subst" "0.00131262" "01943" "OTOG_000091" "g.17662616T>C" "" "" "" "OTOG(NM_001277269.1):c.8204T>C (p.L2735P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17641069T>C" "" "benign" "" "0000543285" "0" "30" "11" "17663706" "17663706" "subst" "0" "01943" "OTOG_000092" "g.17663706C>T" "" "" "" "OTOG(NM_001277269.1):c.8364C>T (p.R2788=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17642159C>T" "" "likely benign" "" "0000543286" "0" "30" "11" "17663736" "17663736" "subst" "0.000105585" "01943" "OTOG_000093" "g.17663736C>T" "" "" "" "OTOG(NM_001277269.1):c.8394C>T (p.A2798=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17642189C>T" "" "likely benign" "" "0000543287" "0" "30" "11" "17663747" "17663747" "subst" "0.00255552" "01943" "OTOG_000094" "g.17663747G>A" "" "" "" "OTOG(NM_001277269.1):c.8405G>A (p.R2802H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17642200G>A" "" "likely benign" "" "0000543288" "0" "50" "11" "17665020" "17665020" "subst" "0.000211182" "01943" "OTOG_000095" "g.17665020G>A" "" "" "" "OTOG(NM_001277269.1):c.8464G>A (p.V2822M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17643473G>A" "" "VUS" "" "0000543289" "0" "50" "11" "17667125" "17667125" "subst" "0.00214344" "01943" "OTOG_000096" "g.17667125C>T" "" "" "" "OTOG(NM_001277269.1):c.8512C>T (p.R2838C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17645578C>T" "" "VUS" "" "0000543290" "0" "50" "11" "17667149" "17667149" "subst" "6.96816E-6" "01943" "OTOG_000097" "g.17667149C>T" "" "" "" "OTOG(NM_001277269.1):c.8536C>T (p.R2846C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17645602C>T" "" "VUS" "" "0000543291" "0" "30" "11" "17667187" "17667187" "subst" "0.000445459" "01943" "OTOG_000098" "g.17667187C>T" "" "" "" "OTOG(NM_001277269.1):c.8574C>T (p.T2858=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17645640C>T" "" "likely benign" "" "0000543292" "0" "50" "11" "17667364" "17667364" "subst" "1.38011E-5" "01943" "OTOG_000099" "g.17667364G>A" "" "" "" "OTOG(NM_001277269.1):c.8651G>A (p.R2884Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17645817G>A" "" "VUS" "" "0000543293" "0" "10" "11" "17667439" "17667439" "subst" "0.20097" "02327" "OTOG_000100" "g.17667439G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17645892G>C" "" "benign" "" "0000613211" "0" "50" "11" "17577388" "17577390" "del" "0" "01943" "OTOG_000101" "g.17577388_17577390del" "" "" "" "OTOG(NM_001277269.1):c.639_641delCTT (p.F214del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17555841_17555843del" "" "VUS" "" "0000613212" "0" "50" "11" "17593733" "17593733" "subst" "6.37963E-5" "01943" "OTOG_000102" "g.17593733G>A" "" "" "" "OTOG(NM_001277269.1):c.2098G>A (p.D700N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17572186G>A" "" "VUS" "" "0000613213" "0" "30" "11" "17655809" "17655809" "subst" "8.50099E-5" "01943" "OTOG_000106" "g.17655809C>T" "" "" "" "OTOG(NM_001277269.1):c.7497C>T (p.C2499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17634262C>T" "" "likely benign" "" "0000613214" "0" "30" "11" "17663676" "17663676" "subst" "0.000256835" "01943" "OTOG_000107" "g.17663676C>A" "" "" "" "OTOG(NM_001277269.1):c.8334C>A (p.P2778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17642129C>A" "" "likely benign" "" "0000613215" "0" "30" "11" "17663692" "17663692" "subst" "5.01648E-5" "01943" "OTOG_000108" "g.17663692G>A" "" "" "" "OTOG(NM_001277269.1):c.8350G>A (p.A2784T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17642145G>A" "" "likely benign" "" "0000613216" "0" "30" "11" "17663701" "17663701" "subst" "1.42882E-5" "01943" "OTOG_000109" "g.17663701G>A" "" "" "" "OTOG(NM_001277269.1):c.8359G>A (p.A2787T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17642154G>A" "" "likely benign" "" "0000613217" "0" "70" "11" "17667195" "17667195" "subst" "0.000153099" "02327" "OTOG_000110" "g.17667195G>A" "" "" "" "OTOG(NM_001277269.1):c.8577+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17645648G>A" "" "likely pathogenic" "" "0000622606" "0" "90" "11" "17594736" "17594736" "del" "0" "01943" "OTOG_000103" "g.17594736del" "" "" "" "OTOG(NM_001277269.1):c.2228delG (p.R743Pfs*72)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17573189del" "" "pathogenic" "" "0000622607" "0" "50" "11" "17631855" "17631855" "subst" "9.02076E-5" "01943" "OTOG_000104" "g.17631855C>T" "" "" "" "OTOG(NM_001277269.1):c.5044C>T (p.P1682S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17610308C>T" "" "VUS" "" "0000622608" "0" "30" "11" "17632921" "17632921" "subst" "0.002482" "01943" "OTOG_000105" "g.17632921C>T" "" "" "" "OTOG(NM_001277269.1):c.6110C>T (p.A2037V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17611374C>T" "" "likely benign" "" "0000631820" "1" "70" "11" "17574667" "17574667" "subst" "1.40881E-5" "03557" "OTOG_000118" "g.17574667C>G" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "ACMG PVS1_S, PM2, PM3" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "ACMG" "0000632042" "3" "70" "11" "17632554" "17632554" "subst" "3.5523E-5" "03288" "OTOG_000111" "g.17632554C>T" "" "{PMID:Palumbo 2020:32244554}" "" "" "" "Germline" "yes" "rs761287044" "0" "" "" "g.17611007C>T" "" "likely pathogenic (recessive)" "" "0000641784" "1" "77" "11" "17623774" "17623774" "subst" "0" "00004" "OTOG_000112" "g.17623774T>C" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.17602227T>C" "" "likely pathogenic" "" "0000641785" "3" "90" "11" "17632319" "17632319" "del" "0" "00004" "OTOG_000113" "g.17632319del" "" "{PMID:Schraders 2012:23122587}" "" "5508delC" "" "Germline" "yes" "" "0" "" "" "g.17610772del" "" "pathogenic (recessive)" "" "0000641786" "1" "77" "11" "17633869" "17633872" "dup" "0" "00004" "OTOG_000114" "g.17633869_17633872dup" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.17612322_17612325dup" "" "likely pathogenic" "" "0000641787" "11" "90" "11" "17634185" "17634185" "subst" "0" "00004" "OTOG_000115" "g.17634185C>T" "" "{PMID:Schraders 2012:23122587}" "" "NM_001277269.1:c.6347C>T" "" "Germline" "" "" "0" "" "" "g.17612638C>T" "" "pathogenic (recessive)" "" "0000641788" "21" "90" "11" "17635243" "17635243" "subst" "4.84483E-5" "00004" "OTOG_000034" "g.17635243C>T" "" "{PMID:Schraders 2012:23122587}" "" "NM_001277269.2:c.6559C>T" "" "Germline" "yes" "" "0" "" "" "g.17613696C>T" "" "pathogenic (recessive)" "" "0000641789" "1" "55" "11" "17653668" "17653668" "subst" "3.45089E-5" "00004" "OTOG_000116" "g.17653668C>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.17632121C>T" "" "VUS" "" "0000641790" "1" "99" "11" "17655701" "17655701" "dup" "0" "00004" "OTOG_000117" "g.17655701dup" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.17634154dup" "" "pathogenic" "" "0000648175" "1" "10" "11" "17618546" "17618546" "subst" "0.00826464" "03575" "OTOG_000119" "g.17618546G>A" "50/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "50 heterozygous; {DB:CLININrs116947228}" "Germline" "" "rs116947228" "0" "" "" "g.17596999G>A" "" "benign" "" "0000648176" "1" "50" "11" "17621218" "17621218" "subst" "0.0027095" "03575" "OTOG_000120" "g.17621218C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs117005078}" "Germline" "" "rs117005078" "0" "" "" "g.17599671C>T" "" "VUS" "" "0000648177" "1" "30" "11" "17627548" "17627548" "subst" "0.00238202" "03575" "OTOG_000063" "g.17627548G>A" "2/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs145689709}" "Germline" "" "rs145689709" "0" "" "" "g.17606001G>A" "" "likely benign" "" "0000648178" "1" "30" "11" "17629924" "17629924" "subst" "0.00054277" "03575" "OTOG_000121" "g.17629924G>A" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs143848095}" "Germline" "" "rs143848095" "0" "" "" "g.17608377G>A" "" "likely benign" "" "0000648179" "1" "10" "11" "17634200" "17634200" "subst" "0.0081571" "03575" "OTOG_000122" "g.17634200T>C" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs182000850}" "Germline" "" "rs182000850" "0" "" "" "g.17612653T>C" "" "benign" "" "0000648180" "1" "50" "11" "17653429" "17653429" "subst" "0.000517229" "03575" "OTOG_000123" "g.17653429G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs142799217}" "Germline" "" "rs142799217" "0" "" "" "g.17631882G>A" "" "VUS" "" "0000648181" "1" "10" "11" "17656445" "17656445" "subst" "0.00593085" "03575" "OTOG_000124" "g.17656445G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs114242958}" "Germline" "" "rs114242958" "0" "" "" "g.17634898G>A" "" "benign" "" "0000648182" "1" "30" "11" "17656672" "17656672" "subst" "0.00277704" "03575" "OTOG_000085" "g.17656672G>A" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs76461792}" "Germline" "" "rs76461792" "0" "" "" "g.17635125G>A" "" "likely benign" "" "0000648183" "1" "30" "11" "17667139" "17667139" "subst" "0.0147438" "03575" "OTOG_000125" "g.17667139G>C" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs61997203}" "Germline" "" "rs61997203" "0" "" "" "g.17645592G>C" "" "likely benign" "" "0000652978" "1" "50" "11" "17633764" "17633764" "subst" "0.00077283" "03575" "OTOG_000017" "g.17633764G>A" "5/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs188527711}" "Germline" "" "rs188527711" "0" "" "" "g.17612217G>A" "" "VUS" "" "0000656748" "0" "90" "11" "17594634" "17594656" "dup" "0" "02327" "OTOG_000126" "g.17594634_17594656dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17573087_17573109dup" "" "pathogenic" "" "0000656749" "0" "50" "11" "17627487" "17627487" "subst" "6.9602E-6" "02327" "OTOG_000127" "g.17627487A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17605940A>G" "" "VUS" "" "0000656750" "0" "50" "11" "17631688" "17631688" "subst" "1.39144E-5" "02327" "OTOG_000128" "g.17631688C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17610141C>T" "" "VUS" "" "0000656751" "0" "90" "11" "17656735" "17656735" "subst" "0.000689243" "02327" "OTOG_000086" "g.17656735G>A" "" "" "" "OTOG(NM_001277269.1):c.7729+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17635188G>A" "" "pathogenic" "" "0000656752" "0" "50" "11" "17667195" "17667195" "subst" "0.000153099" "01943" "OTOG_000110" "g.17667195G>A" "" "" "" "OTOG(NM_001277269.1):c.8577+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17645648G>A" "" "VUS" "" "0000667178" "1" "90" "11" "17594715" "17594715" "del" "0" "00006" "OTOG_000129" "g.17594715del" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "2207delA" "ACMG PVS1_S, PM2, PM3" "Germline" "" "" "0" "" "" "g.17573168del" "" "pathogenic (recessive)" "ACMG" "0000669113" "3" "10" "11" "17618546" "17618546" "subst" "0.00826464" "03575" "OTOG_000119" "g.17618546G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs116947228}" "Germline" "" "rs116947228" "0" "" "" "g.17596999G>A" "" "benign" "" "0000679118" "0" "50" "11" "17574923" "17574923" "subst" "0.000565219" "01943" "OTOG_000023" "g.17574923G>A" "" "" "" "OTOG(NM_001277269.1):c.433G>A (p.G145S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679119" "0" "50" "11" "17582310" "17582310" "subst" "0.00039495" "01943" "OTOG_000130" "g.17582310T>G" "" "" "" "OTOG(NM_001277269.1):c.1433T>G (p.F478C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679120" "0" "50" "11" "17594715" "17594715" "subst" "4.42739E-5" "01943" "OTOG_000131" "g.17594715A>G" "" "" "" "OTOG(NM_001277269.1):c.2207A>G (p.Q736R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679121" "0" "50" "11" "17618521" "17618521" "subst" "3.48112E-5" "02325" "OTOG_000132" "g.17618521G>A" "" "" "" "OTOG(NM_001277269.1):c.3685G>A (p.V1229M), OTOG(NM_001277269.2):c.3685G>A (p.V1229M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679122" "0" "30" "11" "17627609" "17627609" "subst" "1.40913E-5" "01943" "OTOG_000133" "g.17627609G>A" "" "" "" "OTOG(NM_001277269.1):c.4119G>A (p.S1373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679123" "0" "50" "11" "17635184" "17635184" "subst" "6.91133E-6" "01943" "OTOG_000134" "g.17635184G>A" "" "" "" "OTOG(NM_001277269.1):c.6500G>A (p.C2167Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679124" "0" "90" "11" "17656386" "17656392" "dup" "0" "01943" "OTOG_000038" "g.17656386_17656392dup" "" "" "" "OTOG(NM_001277269.1):c.7517-5_7517-4insCCAGTGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679125" "0" "50" "11" "17662573" "17662573" "subst" "0.00029135" "01943" "OTOG_000039" "g.17662573G>A" "" "" "" "OTOG(NM_001277269.1):c.8161G>A (p.D2721N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679126" "0" "50" "11" "17662606" "17662608" "dup" "0" "02325" "OTOG_000135" "g.17662606_17662608dup" "" "" "" "OTOG(NM_001277269.2):c.8194_8196dupACC (p.T2732dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691007" "0" "50" "11" "17577335" "17577335" "subst" "0.00010446" "01943" "OTOG_000024" "g.17577335G>A" "" "" "" "OTOG(NM_001277269.1):c.586G>A (p.D196N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691008" "0" "50" "11" "17579765" "17579765" "subst" "0.00227671" "01943" "OTOG_000136" "g.17579765A>G" "" "" "" "OTOG(NM_001277269.1):c.935A>G (p.H312R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691009" "0" "30" "11" "17579832" "17579832" "subst" "3.46265E-5" "01943" "OTOG_000137" "g.17579832G>A" "" "" "" "OTOG(NM_001277269.1):c.1002G>A (p.P334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691010" "0" "30" "11" "17580595" "17580595" "subst" "0.000521667" "01943" "OTOG_000138" "g.17580595A>C" "" "" "" "OTOG(NM_001277269.1):c.1140-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691011" "0" "50" "11" "17581152" "17581152" "subst" "0.00113446" "01943" "OTOG_000139" "g.17581152C>T" "" "" "" "OTOG(NM_001277269.1):c.1321C>T (p.R441W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691012" "0" "50" "11" "17591822" "17591822" "subst" "0.000256226" "01943" "OTOG_000140" "g.17591822C>T" "" "" "" "OTOG(NM_001277269.1):c.1876C>T (p.R626W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691013" "0" "30" "11" "17615605" "17615605" "subst" "2.08847E-5" "01943" "OTOG_000141" "g.17615605G>A" "" "" "" "OTOG(NM_001277269.1):c.3336G>A (p.A1112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691014" "0" "30" "11" "17627628" "17627628" "subst" "2.83648E-5" "01943" "OTOG_000142" "g.17627628C>A" "" "" "" "OTOG(NM_001277269.1):c.4138C>A (p.R1380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691015" "0" "50" "11" "17632341" "17632341" "subst" "0" "01943" "OTOG_000143" "g.17632341C>G" "" "" "" "OTOG(NM_001277269.1):c.5530C>G (p.P1844A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691016" "0" "30" "11" "17632813" "17632813" "subst" "0.000397573" "01943" "OTOG_000144" "g.17632813C>G" "" "" "" "OTOG(NM_001277269.1):c.6002C>G (p.A2001G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691017" "0" "50" "11" "17635245" "17635245" "subst" "6.92118E-6" "01943" "OTOG_000145" "g.17635245A>T" "" "" "" "OTOG(NM_001277269.1):c.6561A>T (p.R2187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691018" "0" "50" "11" "17653625" "17653625" "subst" "0.000319196" "01943" "OTOG_000146" "g.17653625A>G" "" "" "" "OTOG(NM_001277269.1):c.6970-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691019" "0" "50" "11" "17653756" "17653756" "subst" "2.06612E-5" "01943" "OTOG_000147" "g.17653756G>A" "" "" "" "OTOG(NM_001277269.1):c.7091G>A (p.R2364Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691020" "0" "90" "11" "17655346" "17655346" "subst" "0" "02327" "OTOG_000148" "g.17655346G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000712648" "0" "50" "11" "17631453" "17631453" "subst" "0.00802708" "03980" "OTOG_000149" "g.17631453C>T" "" "Doucette 2021, submitted" "" "" "" "Germline" "no" "rs117380920" "0" "" "" "" "benign/likely benign {CV:226894}" "VUS" "" "0000723336" "0" "30" "11" "17573568" "17573568" "subst" "0.0001114" "01943" "OTOG_000153" "g.17573568G>A" "" "" "" "OTOG(NM_001277269.1):c.274G>A (p.V92M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723337" "0" "50" "11" "17579782" "17579782" "subst" "0.000181018" "01943" "OTOG_000154" "g.17579782G>A" "" "" "" "OTOG(NM_001277269.1):c.952G>A (p.A318T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723338" "0" "30" "11" "17580138" "17580138" "subst" "0.000827592" "01943" "OTOG_000155" "g.17580138C>T" "" "" "" "OTOG(NM_001277269.1):c.1086C>T (p.H362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723339" "0" "50" "11" "17598141" "17598141" "subst" "0.000152805" "01943" "OTOG_000156" "g.17598141C>A" "" "" "" "OTOG(NM_001277269.1):c.2561C>A (p.P854H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723340" "0" "50" "11" "17618521" "17618521" "subst" "3.48112E-5" "01943" "OTOG_000132" "g.17618521G>A" "" "" "" "OTOG(NM_001277269.1):c.3685G>A (p.V1229M), OTOG(NM_001277269.2):c.3685G>A (p.V1229M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723341" "0" "50" "11" "17632825" "17632825" "subst" "7.67117E-5" "01943" "OTOG_000157" "g.17632825C>T" "" "" "" "OTOG(NM_001277269.1):c.6014C>T (p.S2005L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723342" "0" "50" "11" "17632939" "17632939" "subst" "0.000296431" "01943" "OTOG_000158" "g.17632939C>T" "" "" "" "OTOG(NM_001277269.1):c.6128C>T (p.T2043I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723343" "0" "50" "11" "17635178" "17635178" "subst" "0" "01943" "OTOG_000159" "g.17635178C>A" "" "" "" "OTOG(NM_001277269.1):c.6494C>A (p.P2165Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723344" "0" "30" "11" "17667395" "17667395" "subst" "0.000913406" "01943" "OTOG_000160" "g.17667395G>A" "" "" "" "OTOG(NM_001277269.1):c.8682G>A (p.L2894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000736809" "0" "50" "11" "17593655" "17593655" "subst" "0.000787678" "03779" "OTOG_000161" "g.17593655C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs547173007" "0" "" "" "" "" "VUS" "" "0000736810" "0" "50" "11" "17621218" "17621218" "subst" "0.0027095" "03779" "OTOG_000120" "g.17621218C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs117005078" "0" "" "" "" "" "VUS" "" "0000764178" "3" "90" "11" "17655766" "17655766" "del" "0.000247865" "02404" "OTOG_000035" "g.17655766del" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17634219del" "" "pathogenic (recessive)" "ACMG" "0000805041" "0" "50" "11" "17565827" "17565827" "subst" "0" "02327" "USH1C_000224" "g.17565827G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805042" "0" "30" "11" "17569012" "17569012" "subst" "0" "01943" "USH1C_000225" "g.17569012C>T" "" "" "" "OTOG(NM_001277269.1):c.93C>T (p.L31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805043" "0" "30" "11" "17578684" "17578684" "subst" "0" "01943" "OTOG_000162" "g.17578684A>G" "" "" "" "OTOG(NM_001277269.1):c.715A>G (p.M239V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805044" "0" "30" "11" "17618536" "17618536" "subst" "0" "01943" "OTOG_000163" "g.17618536C>A" "" "" "" "OTOG(NM_001277269.1):c.3700C>A (p.R1234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805045" "0" "30" "11" "17627562" "17627562" "subst" "0" "01943" "OTOG_000164" "g.17627562G>A" "" "" "" "OTOG(NM_001277269.1):c.4072G>A (p.V1358M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805046" "0" "30" "11" "17631668" "17631668" "subst" "0.000327262" "01943" "OTOG_000165" "g.17631668G>A" "" "" "" "OTOG(NM_001277269.1):c.4857G>A (p.S1619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805047" "0" "50" "11" "17631867" "17631867" "subst" "2.082E-5" "01943" "OTOG_000166" "g.17631867A>G" "" "" "" "OTOG(NM_001277269.1):c.5056A>G (p.K1686E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805048" "0" "30" "11" "17632031" "17632031" "subst" "8.36528E-5" "01943" "OTOG_000167" "g.17632031C>G" "" "" "" "OTOG(NM_001277269.1):c.5220C>G (p.A1740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805049" "0" "30" "11" "17632954" "17632954" "subst" "5.31261E-5" "01943" "OTOG_000168" "g.17632954C>T" "" "" "" "OTOG(NM_001277269.1):c.6143C>T (p.T2048I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805050" "0" "30" "11" "17634279" "17634279" "subst" "0.000146615" "01943" "OTOG_000169" "g.17634279C>T" "" "" "" "OTOG(NM_001277269.1):c.6441C>T (p.T2147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805051" "0" "50" "11" "17650821" "17650821" "subst" "2.79971E-5" "01943" "OTOG_000170" "g.17650821G>A" "" "" "" "OTOG(NM_001277269.1):c.6706G>A (p.E2236K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805052" "0" "30" "11" "17655355" "17655355" "subst" "0" "01943" "OTOG_000171" "g.17655355G>A" "" "" "" "OTOG(NM_001277269.1):c.7237G>A (p.V2413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805053" "0" "30" "11" "17655363" "17655363" "subst" "0.00046098" "01943" "OTOG_000172" "g.17655363C>T" "" "" "" "OTOG(NM_001277269.1):c.7245C>T (p.S2415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805054" "0" "30" "11" "17656385" "17656385" "subst" "0" "01943" "OTOG_000173" "g.17656385G>A" "" "" "" "OTOG(NM_001277269.1):c.7517-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805055" "0" "30" "11" "17660092" "17660092" "subst" "8.40819E-5" "01943" "OTOG_000174" "g.17660092C>T" "" "" "" "OTOG(NM_001277269.1):c.7926C>T (p.S2642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852846" "0" "30" "11" "17591788" "17591788" "subst" "5.53894E-5" "01943" "OTOG_000178" "g.17591788C>T" "" "" "" "OTOG(NM_001277269.1):c.1842C>T (p.S614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852847" "0" "90" "11" "17632041" "17632041" "subst" "1.39468E-5" "01943" "OTOG_000181" "g.17632041C>T" "" "" "" "OTOG(NM_001277269.1):c.5230C>T (p.Q1744*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852848" "0" "30" "11" "17633864" "17633864" "subst" "3.09435E-5" "01943" "OTOG_000182" "g.17633864C>G" "" "" "" "OTOG(NM_001277269.1):c.6315C>G (p.L2105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852849" "0" "50" "11" "17660080" "17660080" "subst" "0.000195867" "01943" "OTOG_000183" "g.17660080C>G" "" "" "" "OTOG(NM_001277269.1):c.7914C>G (p.C2638W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862459" "0" "50" "11" "17578818" "17578818" "subst" "0" "01943" "OTOG_000175" "g.17578818G>T" "" "" "" "OTOG(NM_001277269.1):c.849G>T (p.G283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862460" "0" "30" "11" "17579748" "17579748" "subst" "5.57235E-5" "01943" "OTOG_000176" "g.17579748C>T" "" "" "" "OTOG(NM_001277269.1):c.918C>T (p.D306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862461" "0" "50" "11" "17582291" "17582291" "subst" "6.94261E-6" "01943" "OTOG_000177" "g.17582291G>C" "" "" "" "OTOG(NM_001277269.1):c.1414G>C (p.A472P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862462" "0" "30" "11" "17600059" "17600059" "subst" "9.99954E-5" "01943" "OTOG_000179" "g.17600059C>T" "" "" "" "OTOG(NM_001277269.1):c.2781C>T (p.C927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862463" "0" "50" "11" "17615157" "17615157" "subst" "0" "01943" "OTOG_000180" "g.17615157A>G" "" "" "" "OTOG(NM_001277269.1):c.3178A>G (p.S1060G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862464" "0" "50" "11" "17667319" "17667319" "subst" "0" "02327" "OTOG_000184" "g.17667319G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000879088" "3" "30" "11" "17615244" "17615244" "subst" "0.000735449" "00006" "OTOG_000001" "g.17615244A>G" "" "{PMID:Watson 2016:26733463}" "" "" "" "Germline" "" "" "0" "" "" "g.17593697A>G" "" "likely benign" "" "0000889736" "0" "90" "11" "17583207" "17583207" "del" "0" "02327" "OTOG_000185" "g.17583207del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000909817" "1" "90" "11" "17653647" "17653647" "subst" "6.91592E-6" "04147" "OTOG_000186" "g.17653647T>A" "" "{PMID:Wonkam 2022:35440622}" "" "" "Both parents not tested" "Germline/De novo (untested)" "yes" "rs1274985459" "" "" "" "g.17632100T>A" "" "pathogenic (recessive)" "ACMG" "0000909818" "2" "90" "11" "17667126" "17667126" "subst" "0.000125644" "04147" "OTOG_000187" "g.17667126G>A" "" "" "" "" "Both parents not tested" "Germline/De novo (untested)" "yes" "rs544815967" "" "" "" "g.17645579G>A" "" "pathogenic (recessive)" "ACMG" "0000925353" "0" "90" "11" "17656671" "17656671" "subst" "0" "02327" "OTOG_000188" "g.17656671C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000944157" "3" "90" "11" "0" "0" "" "" "00006" "DRD4_000002" "g.?" "" "{PMID:Richard 2019: 30303587}" "" "7235delG (Arg2412Hisfs*77)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000949637" "0" "90" "11" "17627514" "17627514" "subst" "0" "02327" "OTOG_000189" "g.17627514C>T" "" "" "" "OTOG(NM_001277269.1):c.4024C>T (p.(Gln1342Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949638" "0" "90" "11" "17631714" "17631714" "subst" "2.78362E-5" "02327" "OTOG_000190" "g.17631714C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966280" "0" "50" "11" "17655684" "17655684" "subst" "0" "02327" "OTOG_000191" "g.17655684T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979492" "0" "50" "11" "17569716" "17569716" "subst" "0.000157516" "01804" "USH1C_000244" "g.17569716C>T" "" "" "" "OTOG(NM_001292063.2):c.173C>T (p.(Ala58Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979493" "0" "30" "11" "17574758" "17574758" "subst" "0.000844844" "01804" "OTOG_000044" "g.17574758G>A" "" "" "" "OTOG(NM_001277269.1):c.421G>A (p.V141M), OTOG(NM_001292063.2):c.385G>A (p.(Val129Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979494" "0" "50" "11" "17575043" "17575043" "subst" "2.90748E-5" "01804" "OTOG_000192" "g.17575043G>A" "" "" "" "OTOG(NM_001292063.2):c.517G>A (p.(Glu173Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979495" "0" "50" "11" "17613077" "17613077" "subst" "0.000139115" "02327" "OTOG_000193" "g.17613077G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979496" "0" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "02327" "OTOG_000194" "g.17618536C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979497" "0" "70" "11" "17627514" "17627514" "subst" "0" "01804" "OTOG_000189" "g.17627514C>T" "" "" "" "OTOG(NM_001277269.1):c.4024C>T (p.(Gln1342Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979498" "0" "50" "11" "17633764" "17633764" "subst" "0.000562058" "01804" "OTOG_000195" "g.17633764G>T" "" "" "" "OTOG(NM_001292063.2):c.6179G>T (p.(Arg2060Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979499" "0" "50" "11" "17650687" "17650687" "subst" "0.000364013" "02327" "OTOG_000075" "g.17650687T>C" "" "" "" "OTOG(NM_001277269.1):c.6572T>C (p.V2191A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979500" "0" "50" "11" "17655633" "17655633" "subst" "0" "01804" "OTOG_000196" "g.17655633G>T" "" "" "" "OTOG(NM_001292063.2):c.7285G>T (p.(Gly2429Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979501" "0" "90" "11" "17655765" "17655765" "subst" "2.12456E-5" "02327" "OTOG_000041" "g.17655765C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998925" "0" "30" "11" "17583338" "17583338" "subst" "0" "01804" "OTOG_000197" "g.17583338A>G" "" "" "" "OTOG(NM_001277269.1):c.1664A>G (p.(Asn555Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998926" "0" "30" "11" "17615640" "17615640" "subst" "0.000146181" "01804" "OTOG_000060" "g.17615640A>G" "" "" "" "OTOG(NM_001277269.1):c.3371A>G (p.N1124S, p.(Asn1124Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998927" "0" "30" "11" "17632306" "17632306" "subst" "0.00199326" "01804" "OTOG_000198" "g.17632306C>G" "" "" "" "OTOG(NM_001277269.1):c.5495C>G (p.(Ala1832Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998928" "0" "30" "11" "17632528" "17632528" "subst" "0.000134416" "01804" "OTOG_000199" "g.17632528C>T" "" "" "" "OTOG(NM_001277269.1):c.5717C>T (p.(Thr1906Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998929" "0" "30" "11" "17667403" "17667403" "subst" "9.01326E-5" "01804" "OTOG_000200" "g.17667403G>A" "" "" "" "OTOG(NM_001277269.1):c.8690G>A (p.(Arg2897His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038378" "0" "50" "11" "17582640" "17582640" "subst" "0" "01804" "OTOG_000201" "g.17582640C>T" "" "" "" "OTOG(NM_001292063.2):c.1454C>T (p.(Thr485Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038379" "0" "50" "11" "17667402" "17667402" "subst" "4.15587E-5" "01804" "OTOG_000202" "g.17667402C>T" "" "" "" "OTOG(NM_001292063.2):c.8653C>T (p.(Arg2885Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044902" "1" "90" "11" "17618418" "17618418" "subst" "6.89455E-5" "00006" "OTOG_000203" "g.17618418C>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "NM_001277269.1:3582C>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.17596871C>A" "" "pathogenic (recessive)" "" "0001044903" "1" "90" "11" "17627515" "17627537" "del" "0" "00006" "OTOG_000204" "g.17627515_17627537del" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "NM_001277269.1:4023_4045del" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.17605968_17605990del" "" "pathogenic (recessive)" "" "0001053834" "0" "50" "11" "17632279" "17632279" "subst" "0.000383585" "01804" "OTOG_000205" "g.17632279C>T" "" "" "" "OTOG(NM_001292063.2):c.5432C>T (p.(Ala1811Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053835" "0" "50" "11" "17656433" "17656433" "subst" "0.000106667" "01804" "OTOG_000206" "g.17656433G>T" "" "" "" "OTOG(NM_001292063.2):c.7523G>T (p.(Arg2508Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060834" "0" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PM3, PVS1, PM2, PP5; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.17596989C>T" "" "pathogenic" "ACMG" "0001065432" "0" "50" "11" "17614877" "17614877" "subst" "0" "01804" "OTOG_000207" "g.17614877A>G" "" "" "" "OTOG(NM_001292063.2):c.3141+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001084191" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}, {PMID:Lynch 2018:29358271}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084192" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084193" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084194" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084195" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084196" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084197" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084198" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084199" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}" "" "" "" "Germline" "" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084200" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}" "" "" "" "Germline" "" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084201" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}" "" "" "" "Germline" "" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084202" "3" "90" "11" "17618536" "17618536" "subst" "4.91863E-5" "00006" "OTOG_000194" "g.17618536C>T" "" "{PMID:Flynn 2026:42642215}" "" "" "" "Germline" "" "" "0" "" "" "g.17596989C>T" "" "pathogenic (recessive)" "" "0001084203" "11" "90" "11" "17634185" "17634185" "subst" "0" "00006" "OTOG_000115" "g.17634185C>T" "" "{PMID:Schraders 2012:23122587}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17612638C>T" "" "pathogenic (recessive)" "" "0001084204" "21" "90" "11" "17635243" "17635243" "subst" "4.84483E-5" "00006" "OTOG_000034" "g.17635243C>T" "" "{PMID:Schraders 2012:23122587}" "" "NM_001277269.2:c.6559C>T" "" "Germline" "yes" "" "0" "" "" "g.17613696C>T" "" "pathogenic (recessive)" "" "0001084205" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Ganaha 2019:31645975}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084206" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Ganaha 2019:31645975}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084207" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Ganaha 2019:31645975}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084208" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Ganaha 2019:31645975}" "" "" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084241" "3" "90" "11" "17596437" "17596437" "subst" "0.000384238" "00006" "OTOG_000029" "g.17596437C>T" "" "{PMID:Safka Brozkova 2020:32860223}" "" "NM_001277269.1:c.2500C>T (Gln834Ter)" "ACMG PVS1, PM2, PM3, PP3, PP4" "Germline" "" "rs554847663" "0" "" "" "g.17574890C>T" "" "pathogenic (recessive)" "" "0001084242" "1" "50" "11" "17650863" "17650863" "subst" "2.15793E-5" "00006" "OTOG_000212" "g.17650863G>A" "" "{PMID:Safka Brozkova 2020:32860223}" "" "NM_001277269.1:c.6748G>A" "ACMG PM2, PP3" "Germline" "" "rs763848795" "0" "" "" "g.17629316G>A" "" "VUS" "" "0001084310" "2" "70" "11" "17656386" "17656392" "dup" "0" "00006" "OTOG_000038" "g.17656386_17656392dup" "" "{PMID:Safka Brozkova 2020:32860223}" "" "NM_001277269.1:c.7517-5_7518dup" "ACMG PVS1, PM2" "Germline" "" "rs1295062471" "0" "" "" "g.17634839_17634845dup" "" "likely pathogenic" "" "0001084323" "3" "90" "11" "17596320" "17596320" "subst" "0" "00006" "OTOG_000208" "g.17596320C>T" "" "{PMID:Askari 2021:34118384}" "" "C2383T" "" "Germline" "yes" "" "0" "" "" "g.17574773C>T" "" "pathogenic (recessive)" "" "0001084324" "3" "90" "11" "17596320" "17596320" "subst" "0" "00006" "OTOG_000208" "g.17596320C>T" "" "{PMID:Askari 2021:34118384}" "" "C2383T" "" "Germline" "yes" "" "0" "" "" "g.17574773C>T" "" "pathogenic (recessive)" "" "0001084335" "1" "90" "11" "17593753" "17593763" "del" "0" "00006" "OTOG_000210" "g.17593753_17593763del" "" "{PMID:Mutai 2022:35248088}" "" "2116+2_2116+12del11" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.17572206_17572216del" "" "pathogenic (recessive)" "" "0001084364" "2" "90" "11" "17632236" "17632236" "subst" "0" "00006" "OTOG_000211" "g.17632236C>T" "" "{PMID:Mutai 2022:35248088}" "" "NM_001277269.2:c.5425C>T" "ACMG PVS1, PM2_sup" "Germline" "" "" "0" "" "" "g.17610689C>T" "" "pathogenic (recessive)" "" "0001084424" "3" "70" "11" "17655766" "17655766" "del" "0.000247865" "00006" "OTOG_000035" "g.17655766del" "" "{PMID:Naddafnia 2024:38894825}" "" "NM_001277269.1:c.7454delG" "" "Germline" "yes" "" "0" "" "" "g.17634219del" "" "likely pathogenic (recessive)" "" "0001084433" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Yu 2019:29800624}" "" "NM_001277269.1:c.330C>G" "" "Germline" "" "rs574007567" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084434" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084435" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084436" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084437" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084438" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084439" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084440" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084441" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084442" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084443" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084444" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084445" "3" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084446" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084447" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084448" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084449" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084450" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084451" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084452" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084453" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084454" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "yes" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084455" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084456" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084457" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084458" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084459" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084460" "1" "90" "11" "17574667" "17574667" "subst" "1.40881E-5" "00006" "OTOG_000118" "g.17574667C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.330C>G" "" "Germline" "" "" "0" "" "" "g.17553120C>G" "" "pathogenic (recessive)" "" "0001084461" "1" "90" "11" "17580655" "17580655" "subst" "2.91843E-5" "00006" "chr11_008790" "g.17580655G>T" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.1196G>T" "" "Germline" "" "" "0" "" "" "g.17559108G>T" "" "pathogenic (recessive)" "" "0001084462" "1" "90" "11" "17615702" "17615702" "del" "0" "00006" "chr11_008791" "g.17615702del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.3431delG" "" "Germline" "" "" "0" "" "" "g.17594155del" "" "pathogenic (recessive)" "" "0001084463" "3" "90" "11" "17627563" "17627563" "del" "0" "00006" "chr11_008792" "g.17627563del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.4073delT" "" "Germline" "" "" "0" "" "" "g.17606016del" "" "pathogenic (recessive)" "" "0001084464" "1" "90" "11" "17627563" "17627563" "del" "0" "00006" "chr11_008792" "g.17627563del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.4073delT" "" "Germline" "" "" "0" "" "" "g.17606016del" "" "pathogenic (recessive)" "" "0001084465" "2" "90" "11" "17580655" "17580655" "subst" "2.91843E-5" "00006" "chr11_008790" "g.17580655G>T" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.1196G>T" "" "Germline" "" "" "0" "" "" "g.17559108G>T" "" "pathogenic (recessive)" "" "0001084466" "2" "90" "11" "17613035" "17613035" "del" "0" "00006" "chr11_008793" "g.17613035del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.2940delC" "" "Germline" "" "" "0" "" "" "g.17591488del" "" "pathogenic (recessive)" "" "0001084467" "2" "90" "11" "17613035" "17613035" "del" "0" "00006" "chr11_008793" "g.17613035del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.2940delC" "" "Germline" "" "" "0" "" "" "g.17591488del" "" "pathogenic (recessive)" "" "0001084468" "2" "90" "11" "17615702" "17615702" "del" "0" "00006" "chr11_008791" "g.17615702del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.3431delG" "" "Germline" "" "" "0" "" "" "g.17594155del" "" "pathogenic (recessive)" "" "0001084469" "2" "90" "11" "17627563" "17627563" "del" "0" "00006" "chr11_008792" "g.17627563del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.4073delT" "" "Germline" "" "" "0" "" "" "g.17606016del" "" "pathogenic (recessive)" "" "0001084470" "2" "90" "11" "17627563" "17627563" "del" "0" "00006" "chr11_008792" "g.17627563del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.4073delT" "" "Germline" "" "" "0" "" "" "g.17606016del" "" "pathogenic (recessive)" "" "0001084471" "2" "90" "11" "17627563" "17627563" "del" "0" "00006" "chr11_008792" "g.17627563del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.4073delT" "" "Germline" "" "" "0" "" "" "g.17606016del" "" "pathogenic (recessive)" "" "0001084472" "2" "90" "11" "17632031" "17632031" "del" "0" "00006" "chr11_008794" "g.17632031del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.5219delC" "" "Germline" "" "" "0" "" "" "g.17610484del" "" "pathogenic (recessive)" "" "0001084473" "2" "90" "11" "17632031" "17632031" "del" "0" "00006" "chr11_008794" "g.17632031del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.5219delC" "" "Germline" "" "" "0" "" "" "g.17610484del" "" "pathogenic (recessive)" "" "0001084474" "2" "90" "11" "17632708" "17632708" "subst" "0" "00006" "chr11_008795" "g.17632708C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.5897C>G" "" "Germline" "" "" "0" "" "" "g.17611161C>G" "" "pathogenic (recessive)" "" "0001084475" "2" "90" "11" "17633831" "17633831" "del" "0" "00006" "chr11_008796" "g.17633831del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.6281delC" "" "Germline" "" "" "0" "" "" "g.17612284del" "" "pathogenic (recessive)" "" "0001084476" "2" "90" "11" "17653686" "17653686" "subst" "0" "00006" "chr11_008797" "g.17653686C>T" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.7021C>T" "" "Germline" "" "" "0" "" "" "g.17632139C>T" "" "pathogenic (recessive)" "" "0001084477" "2" "90" "11" "17656397" "17656397" "subst" "7.122E-6" "00006" "chr11_008798" "g.17656397A>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.7523A>G" "" "Germline" "" "" "0" "" "" "g.17634850A>G" "" "pathogenic (recessive)" "" "0001084478" "2" "90" "11" "17656671" "17656671" "subst" "0" "00006" "OTOG_000188" "g.17656671C>T" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.7666C>T" "" "Germline" "" "" "0" "" "" "g.17635124C>T" "" "pathogenic (recessive)" "" "0001084479" "2" "90" "11" "17656727" "17656727" "subst" "0" "00006" "chr11_008799" "g.17656727C>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.7722C>G" "" "Germline" "" "" "0" "" "" "g.17635180C>G" "" "pathogenic (recessive)" "" "0001084480" "2" "90" "11" "17661013" "17661013" "subst" "0" "00006" "chr11_008800" "g.17661013A>G" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.7971+3A>G" "" "Germline" "" "" "0" "" "" "g.17639466A>G" "" "pathogenic (recessive)" "" "0001084481" "2" "90" "11" "17627563" "17627563" "del" "0" "00006" "chr11_008792" "g.17627563del" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.4073delT" "" "Germline" "" "" "0" "" "" "g.17606016del" "" "pathogenic (recessive)" "" "0001084482" "2" "90" "11" "17656462" "17656462" "subst" "0" "00006" "chr11_008801" "g.17656462C>T" "" "{PMID:Arai 2025:39858607}" "" "NM_001277269:c.7588C>T" "" "Germline" "" "" "0" "" "" "g.17634915C>T" "" "pathogenic (recessive)" "" "0001084483" "3" "70" "11" "17583359" "17583359" "subst" "6.97749E-5" "00006" "OTOG_000209" "g.17583359G>C" "" "{PMID:An 2025:40389292}" "" "" "ACMG PM2, PM3, PP1, PP3" "Germline" "yes" "" "0" "" "" "g.17561812G>C" "" "likely pathogenic (recessive)" "ACMG" "0001084486" "3" "70" "11" "17583359" "17583359" "subst" "6.97749E-5" "00006" "OTOG_000209" "g.17583359G>C" "" "{PMID:An 2025:40389292}" "" "" "ACMG PM2, PM3, PP1, PP3" "Germline" "yes" "" "0" "" "" "g.17561812G>C" "" "likely pathogenic (recessive)" "ACMG" "0001084489" "3" "70" "11" "17583359" "17583359" "subst" "6.97749E-5" "00006" "OTOG_000209" "g.17583359G>C" "" "{PMID:An 2025:40389292}" "" "" "ACMG PM2, PM3, PP1, PP3" "Germline" "yes" "" "0" "" "" "g.17561812G>C" "" "likely pathogenic (recessive)" "ACMG" ## 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 OTOG ## Count = 360 "{{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}}" "0000086649" "00024096" "30" "3265" "0" "3265" "0" "c.3265A>G" "r.(?)" "p.(Ile1089Val)" "26" "0000254478" "00024096" "30" "3265" "0" "3265" "0" "c.3265A>G" "r.(?)" "p.(Ile1089Val)" "" "0000255053" "00024096" "30" "4762" "0" "4762" "0" "c.4762A>G" "r.(?)" "p.(Thr1588Ala)" "" "0000296696" "00024096" "10" "2074" "0" "2074" "0" "c.2074T>C" "r.(?)" "p.(Ser692Pro)" "" "0000296697" "00024096" "10" "2376" "0" "2376" "0" "c.2376G>A" "r.(?)" "p.(Pro792=)" "" "0000296698" "00024096" "10" "2597" "14" "2597" "14" "c.2597+14G>A" "r.(=)" "p.(=)" "" "0000296699" "00024096" "10" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Ala919Thr)" "" "0000296700" "00024096" "10" "3224" "0" "3224" "0" "c.3224G>A" "r.(?)" "p.(Arg1075Gln)" "" "0000296701" "00024096" "10" "3444" "15" "3444" "15" "c.3444+15C>T" "r.(=)" "p.(=)" "" "0000296702" "00024096" "10" "4123" "0" "4123" "0" "c.4123G>C" "r.(?)" "p.(Ala1375Pro)" "" "0000296703" "00024096" "10" "4940" "0" "4940" "0" "c.4940C>T" "r.(?)" "p.(Pro1647Leu)" "" "0000296704" "00024096" "10" "5840" "0" "5840" "0" "c.5840C>T" "r.(?)" "p.(Thr1947Met)" "" "0000296705" "00024096" "10" "7681" "0" "7681" "0" "c.7681C>T" "r.(?)" "p.(Leu2561=)" "" "0000296706" "00024096" "10" "8277" "0" "8277" "0" "c.8277C>T" "r.(?)" "p.(Cys2759=)" "" "0000296707" "00024096" "10" "8400" "0" "8400" "0" "c.8400G>C" "r.(?)" "p.(Leu2800=)" "" "0000304872" "00024096" "30" "2082" "0" "2082" "0" "c.2082C>T" "r.(?)" "p.(Ser694=)" "" "0000304873" "00024096" "30" "2250" "0" "2250" "0" "c.2250C>T" "r.(?)" "p.(Cys750=)" "" "0000304874" "00024096" "30" "4662" "0" "4662" "0" "c.4662C>T" "r.(?)" "p.(Pro1554=)" "" "0000304875" "00024096" "90" "4693" "0" "4693" "0" "c.4693G>T" "r.(?)" "p.(Gly1565Ter)" "" "0000304876" "00024096" "30" "5381" "0" "5381" "0" "c.5381T>C" "r.(?)" "p.(Leu1794Pro)" "" "0000304877" "00024096" "50" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Arg2072His)" "" "0000304878" "00024096" "50" "7694" "0" "7694" "0" "c.7694G>C" "r.(?)" "p.(Arg2565Pro)" "" "0000304879" "00024096" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Lys293=)" "" "0000336864" "00024096" "10" "1033" "-35" "1033" "-35" "c.1033-35A>C" "r.(=)" "p.(=)" "" "0000336865" "00024096" "10" "2597" "10" "2597" "10" "c.2597+10G>A" "r.(=)" "p.(=)" "" "0000336866" "00024096" "10" "2597" "14" "2597" "14" "c.2597+14G>A" "r.(=)" "p.(=)" "" "0000336867" "00024096" "10" "3444" "15" "3444" "15" "c.3444+15C>T" "r.(=)" "p.(=)" "" "0000336868" "00024096" "10" "7516" "11" "7516" "11" "c.7516+11A>T" "r.(=)" "p.(=)" "" "0000337360" "00024096" "90" "3718" "1" "3718" "1" "c.3718+1G>A" "r.spl?" "p.?" "" "0000337361" "00024096" "90" "3718" "2" "3718" "2" "c.3718+2T>C" "r.spl?" "p.?" "" "0000339206" "00024096" "10" "7681" "0" "7681" "0" "c.7681C>T" "r.(?)" "p.(Leu2561=)" "" "0000339207" "00024096" "10" "8277" "0" "8277" "0" "c.8277C>T" "r.(?)" "p.(Cys2759=)" "" "0000339208" "00024096" "10" "8400" "0" "8400" "0" "c.8400G>C" "r.(?)" "p.(Leu2800=)" "" "0000341156" "00024096" "10" "4123" "0" "4123" "0" "c.4123G>C" "r.(?)" "p.(Ala1375Pro)" "" "0000341231" "00024096" "10" "5495" "0" "5495" "0" "c.5495C>T" "r.(?)" "p.(Ala1832Val)" "" "0000341369" "00024096" "10" "953" "0" "953" "0" "c.953C>A" "r.(?)" "p.(Ala318Asp)" "" "0000341625" "00024096" "10" "2755" "0" "2755" "0" "c.2755G>A" "r.(?)" "p.(Ala919Thr)" "" "0000341697" "00024096" "10" "3224" "0" "3224" "0" "c.3224G>A" "r.(?)" "p.(Arg1075Gln)" "" "0000342274" "00024096" "90" "6559" "0" "6559" "0" "c.6559C>T" "r.(?)" "p.(Arg2187Ter)" "" "0000342405" "00024096" "90" "7454" "0" "7454" "0" "c.7454del" "r.(?)" "p.(Arg2485HisfsTer77)" "" "0000342507" "00024096" "10" "8249" "0" "8249" "0" "c.8249G>A" "r.(?)" "p.(Arg2750Gln)" "" "0000343981" "00024096" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "" "0000344034" "00024096" "50" "8161" "0" "8161" "0" "c.8161G>A" "r.(?)" "p.(Asp2721Asn)" "" "0000344772" "00024096" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Gln337Ter)" "" "0000344985" "00024096" "90" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.(Gln834Ter)" "" "0000345731" "00024096" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Gly145Ser)" "" "0000348230" "00024096" "10" "4940" "0" "4940" "0" "c.4940C>T" "r.(?)" "p.(Pro1647Leu)" "" "0000349139" "00024096" "10" "2074" "0" "2074" "0" "c.2074T>C" "r.(?)" "p.(Ser692Pro)" "" "0000349347" "00024096" "10" "5840" "0" "5840" "0" "c.5840C>T" "r.(?)" "p.(Thr1947Met)" "" "0000349481" "00024096" "10" "1123" "0" "1123" "0" "c.1123A>T" "r.(?)" "p.(Thr375Ser)" "" "0000350782" "00024096" "50" "7516" "1" "7516" "3" "c.7516+1_7516+3del" "r.spl?" "p.?" "" "0000350978" "00024096" "90" "422" "-2" "422" "-2" "c.422-2A>G" "r.spl?" "p.?" "" "0000355059" "00024096" "90" "7453" "0" "7453" "0" "c.7453C>T" "r.(?)" "p.(Arg2485Ter)" "43" "0000543233" "00024096" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Gly118=)" "" "0000543234" "00024096" "50" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Val141Met)" "" "0000543235" "00024096" "50" "437" "0" "437" "0" "c.437C>G" "r.(?)" "p.(Pro146Arg)" "" "0000543236" "00024096" "10" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(Ser190=)" "" "0000543237" "00024096" "10" "953" "0" "953" "0" "c.953C>A" "r.(?)" "p.(Ala318Asp)" "" "0000543238" "00024096" "30" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Gly324Arg)" "" "0000543239" "00024096" "50" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Arg404Gln)" "" "0000543240" "00024096" "50" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441Gln)" "" "0000543241" "00024096" "30" "1389" "0" "1389" "0" "c.1389C>A" "r.(?)" "p.(Phe463Leu)" "" "0000543242" "00024096" "50" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Gly480Arg)" "" "0000543243" "00024096" "50" "1991" "61" "1991" "61" "c.1991+61T>A" "r.(=)" "p.(=)" "" "0000543244" "00024096" "30" "2117" "-9" "2117" "-9" "c.2117-9C>T" "r.(=)" "p.(=)" "" "0000543245" "00024096" "50" "2285" "0" "2285" "0" "c.2285G>A" "r.(?)" "p.(Arg762His)" "" "0000543246" "00024096" "30" "2314" "0" "2314" "0" "c.2314C>G" "r.(?)" "p.(Arg772Gly)" "" "0000543247" "00024096" "10" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Asp812Asn)" "" "0000543248" "00024096" "10" "2597" "10" "2597" "10" "c.2597+10G>A" "r.(=)" "p.(=)" "" "0000543249" "00024096" "30" "2693" "0" "2693" "0" "c.2693C>T" "r.(?)" "p.(Thr898Met)" "" "0000543250" "00024096" "30" "2759" "0" "2759" "0" "c.2759G>T" "r.(?)" "p.(Arg920Leu)" "" "0000543251" "00024096" "50" "3179" "0" "3179" "0" "c.3179G>A" "r.(?)" "p.(Ser1060Asn)" "" "0000543252" "00024096" "50" "3371" "0" "3371" "0" "c.3371A>G" "r.(?)" "p.(Asn1124Ser)" "" "0000543253" "00024096" "10" "3459" "0" "3459" "0" "c.3459C>T" "r.(?)" "p.(Leu1153=)" "" "0000543254" "00024096" "10" "3561" "10" "3561" "10" "c.3561+10C>A" "r.(=)" "p.(=)" "" "0000543255" "00024096" "30" "4058" "0" "4058" "0" "c.4058G>A" "r.(?)" "p.(Arg1353Gln)" "" "0000543256" "00024096" "50" "4301" "0" "4301" "0" "c.4301A>T" "r.(?)" "p.(Asp1434Val)" "" "0000543257" "00024096" "90" "4310" "2" "4310" "2" "c.4310+2T>G" "r.spl?" "p.?" "" "0000543258" "00024096" "30" "4677" "0" "4677" "0" "c.4677G>T" "r.(?)" "p.(Glu1559Asp)" "" "0000543259" "00024096" "30" "4732" "0" "4732" "0" "c.4732G>A" "r.(?)" "p.(Glu1578Lys)" "" "0000543260" "00024096" "50" "4904" "0" "4904" "0" "c.4904G>A" "r.(?)" "p.(Arg1635Gln)" "" "0000543261" "00024096" "30" "5271" "0" "5271" "0" "c.5271C>A" "r.(?)" "p.(Leu1757=)" "" "0000543262" "00024096" "10" "5804" "0" "5804" "0" "c.5804T>C" "r.(?)" "p.(Met1935Thr)" "" "0000543263" "00024096" "30" "5850" "0" "5850" "0" "c.5850G>A" "r.(?)" "p.(Thr1950=)" "" "0000543264" "00024096" "10" "5864" "0" "5864" "0" "c.5864C>T" "r.(?)" "p.(Thr1955Met)" "" "0000543265" "00024096" "30" "5925" "0" "5925" "0" "c.5925C>T" "r.(?)" "p.(Ser1975=)" "" "0000543266" "00024096" "30" "6166" "0" "6166" "0" "c.6166G>A" "r.(?)" "p.(Ala2056Thr)" "" "0000543267" "00024096" "50" "6572" "0" "6572" "0" "c.6572T>C" "r.(?)" "p.(Val2191Ala)" "" "0000543268" "00024096" "50" "6611" "0" "6611" "0" "c.6611G>T" "r.(?)" "p.(Gly2204Val)" "" "0000543269" "00024096" "90" "6797" "0" "6797" "0" "c.6797C>A" "r.(?)" "p.(Ser2266Ter)" "" "0000543270" "00024096" "50" "6886" "0" "6886" "0" "c.6886C>T" "r.(?)" "p.(Arg2296Cys)" "" "0000543271" "00024096" "50" "6943" "0" "6943" "0" "c.6943C>T" "r.(?)" "p.(Arg2315Cys)" "" "0000543272" "00024096" "50" "7018" "0" "7018" "0" "c.7018G>A" "r.(?)" "p.(Val2340Met)" "" "0000543273" "00024096" "50" "7265" "0" "7265" "0" "c.7265G>A" "r.(?)" "p.(Arg2422Gln)" "" "0000543274" "00024096" "90" "7454" "0" "7454" "0" "c.7454del" "r.(?)" "p.(Arg2485HisfsTer77)" "" "0000543275" "00024096" "90" "7542" "0" "7548" "0" "c.7542_7548del" "r.(?)" "p.(Leu2515ProfsTer45)" "" "0000543276" "00024096" "90" "7570" "0" "7570" "0" "c.7570del" "r.(?)" "p.(Arg2524AlafsTer38)" "" "0000543277" "00024096" "30" "7578" "0" "7578" "0" "c.7578C>G" "r.(?)" "p.(Leu2526=)" "" "0000543278" "00024096" "30" "7667" "0" "7667" "0" "c.7667G>A" "r.(?)" "p.(Arg2556Gln)" "" "0000543279" "00024096" "90" "7729" "1" "7729" "1" "c.7729+1G>A" "r.spl?" "p.?" "" "0000543280" "00024096" "10" "7861" "0" "7861" "0" "c.7861C>A" "r.(?)" "p.(Gln2621Lys)" "" "0000543281" "00024096" "30" "7903" "0" "7903" "0" "c.7903G>A" "r.(?)" "p.(Asp2635Asn)" "" "0000543282" "00024096" "10" "8071" "0" "8071" "0" "c.8071C>T" "r.(?)" "p.(Arg2691Cys)" "" "0000543283" "00024096" "50" "8143" "0" "8143" "0" "c.8143C>T" "r.(?)" "p.(Arg2715Cys)" "" "0000543284" "00024096" "10" "8204" "0" "8204" "0" "c.8204T>C" "r.(?)" "p.(Leu2735Pro)" "" "0000543285" "00024096" "30" "8364" "0" "8364" "0" "c.8364C>T" "r.(?)" "p.(Arg2788=)" "" "0000543286" "00024096" "30" "8394" "0" "8394" "0" "c.8394C>T" "r.(?)" "p.(Ala2798=)" "" "0000543287" "00024096" "30" "8405" "0" "8405" "0" "c.8405G>A" "r.(?)" "p.(Arg2802His)" "" "0000543288" "00024096" "50" "8464" "0" "8464" "0" "c.8464G>A" "r.(?)" "p.(Val2822Met)" "" "0000543289" "00024096" "50" "8512" "0" "8512" "0" "c.8512C>T" "r.(?)" "p.(Arg2838Cys)" "" "0000543290" "00024096" "50" "8536" "0" "8536" "0" "c.8536C>T" "r.(?)" "p.(Arg2846Cys)" "" "0000543291" "00024096" "30" "8574" "0" "8574" "0" "c.8574C>T" "r.(?)" "p.(Thr2858=)" "" "0000543292" "00024096" "50" "8651" "0" "8651" "0" "c.8651G>A" "r.(?)" "p.(Arg2884Gln)" "" "0000543293" "00024096" "10" "8726" "0" "8726" "0" "c.8726G>C" "r.(?)" "p.(Trp2909Ser)" "" "0000613211" "00024096" "50" "639" "0" "641" "0" "c.639_641del" "r.(?)" "p.(Phe214del)" "" "0000613212" "00024096" "50" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Asp700Asn)" "" "0000613213" "00024096" "30" "7497" "0" "7497" "0" "c.7497C>T" "r.(?)" "p.(Cys2499=)" "" "0000613214" "00024096" "30" "8334" "0" "8334" "0" "c.8334C>A" "r.(?)" "p.(Pro2778=)" "" "0000613215" "00024096" "30" "8350" "0" "8350" "0" "c.8350G>A" "r.(?)" "p.(Ala2784Thr)" "" "0000613216" "00024096" "30" "8359" "0" "8359" "0" "c.8359G>A" "r.(?)" "p.(Ala2787Thr)" "" "0000613217" "00024096" "70" "8577" "5" "8577" "5" "c.8577+5G>A" "r.spl?" "p.?" "" "0000622606" "00024096" "90" "2228" "0" "2228" "0" "c.2228del" "r.(?)" "p.(Arg743ProfsTer72)" "" "0000622607" "00024096" "50" "5044" "0" "5044" "0" "c.5044C>T" "r.(?)" "p.(Pro1682Ser)" "" "0000622608" "00024096" "30" "6110" "0" "6110" "0" "c.6110C>T" "r.(?)" "p.(Ala2037Val)" "" "0000631820" "00024096" "70" "330" "0" "330" "0" "c.330C>G" "r.(?)" "p.(Tyr110*)" "" "0000632042" "00025872" "70" "5707" "0" "5707" "0" "c.5707C>T" "r.(?)" "p.(Arg1903Ter)" "" "0000632042" "00024096" "70" "5743" "0" "5743" "0" "c.5743C>T" "r.(?)" "p.(Arg1915*)" "" "0000641784" "00024096" "77" "3763" "0" "3763" "0" "c.3763T>C" "r.(?)" "p.(Tyr1255His)" "31" "0000641785" "00025872" "90" "5472" "0" "5472" "0" "c.5472del" "r.(?)" "p.(Ala1826ProfsTer31)" "" "0000641785" "00024096" "90" "5508" "0" "5508" "0" "c.5508del" "r.(?)" "p.(Ala1838ProfsTer31)" "35" "0000641786" "00024096" "77" "6320" "0" "6323" "0" "c.6320_6323dup" "r.(?)" "p.(Cys2108*)" "36" "0000641787" "00025872" "90" "6311" "0" "6311" "0" "c.6311C>T" "r.(?)" "p.(Pro2104Leu)" "" "0000641787" "00024096" "90" "6347" "0" "6347" "0" "c.6347C>T" "r.(?)" "p.(Pro2116Leu)" "37" "0000641788" "00025872" "90" "6523" "0" "6523" "0" "c.6523C>T" "r.(?)" "p.(Arg2175Ter)" "" "0000641788" "00024096" "90" "6559" "0" "6559" "0" "c.6559C>T" "r.(?)" "p.(Arg2187Ter)" "38" "0000641789" "00024096" "55" "7003" "0" "7003" "0" "c.7003C>T" "r.(?)" "p.(Arg2335Trp)" "41" "0000641790" "00024096" "99" "7389" "0" "7389" "0" "c.7389dup" "r.(?)" "p.(Ala2464Serfs*18)" "43" "0000648175" "00024096" "10" "3710" "0" "3710" "0" "c.3710G>A" "r.(?)" "p.(Arg1237His)" "" "0000648176" "00024096" "50" "3719" "0" "3719" "0" "c.3719C>T" "r.(?)" "p.(Pro1240Leu)" "" "0000648177" "00024096" "30" "4058" "0" "4058" "0" "c.4058G>A" "r.(?)" "p.(Arg1353Gln)" "" "0000648178" "00024096" "30" "4274" "0" "4274" "0" "c.4274G>A" "r.(?)" "p.(Arg1425Gln)" "" "0000648179" "00024096" "10" "6362" "0" "6362" "0" "c.6362T>C" "r.(?)" "p.(Val2121Ala)" "" "0000648180" "00024096" "50" "6929" "0" "6929" "0" "c.6929G>A" "r.(?)" "p.(Arg2310His)" "" "0000648181" "00024096" "10" "7571" "0" "7571" "0" "c.7571G>A" "r.(?)" "p.(Arg2524His)" "" "0000648182" "00024096" "30" "7667" "0" "7667" "0" "c.7667G>A" "r.(?)" "p.(Arg2556Gln)" "" "0000648183" "00024096" "30" "8526" "0" "8526" "0" "c.8526G>C" "r.(?)" "p.(Lys2842Asn)" "" "0000652978" "00024096" "50" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Arg2072His)" "" "0000656748" "00024096" "90" "2126" "0" "2148" "0" "c.2126_2148dup" "r.(?)" "p.(Thr717GlnfsTer20)" "" "0000656749" "00024096" "50" "3997" "0" "3997" "0" "c.3997A>G" "r.(?)" "p.(Lys1333Glu)" "" "0000656750" "00024096" "50" "4877" "0" "4877" "0" "c.4877C>T" "r.(?)" "p.(Pro1626Leu)" "" "0000656751" "00024096" "90" "7729" "1" "7729" "1" "c.7729+1G>A" "r.spl?" "p.?" "" "0000656752" "00024096" "50" "8577" "5" "8577" "5" "c.8577+5G>A" "r.spl?" "p.?" "" "0000667178" "00024096" "90" "2207" "0" "2207" "0" "c.2207del" "r.(?)" "p.(Gln736Argfs*79)" "" "0000669113" "00024096" "10" "3710" "0" "3710" "0" "c.3710G>A" "r.(?)" "p.(Arg1237His)" "" "0000679118" "00024096" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Gly145Ser)" "" "0000679119" "00024096" "50" "1433" "0" "1433" "0" "c.1433T>G" "r.(?)" "p.(Phe478Cys)" "" "0000679120" "00024096" "50" "2207" "0" "2207" "0" "c.2207A>G" "r.(?)" "p.(Gln736Arg)" "" "0000679121" "00024096" "50" "3685" "0" "3685" "0" "c.3685G>A" "r.(?)" "p.(Val1229Met)" "" "0000679122" "00024096" "30" "4119" "0" "4119" "0" "c.4119G>A" "r.(?)" "p.(Ser1373=)" "" "0000679123" "00024096" "50" "6500" "0" "6500" "0" "c.6500G>A" "r.(?)" "p.(Cys2167Tyr)" "" "0000679124" "00024096" "90" "7517" "-5" "7518" "0" "c.7517-5_7518dup" "r.spl?" "p.?" "" "0000679125" "00024096" "50" "8161" "0" "8161" "0" "c.8161G>A" "r.(?)" "p.(Asp2721Asn)" "" "0000679126" "00024096" "50" "8194" "0" "8196" "0" "c.8194_8196dup" "r.(?)" "p.(Thr2732dup)" "" "0000691007" "00024096" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "" "0000691008" "00024096" "50" "935" "0" "935" "0" "c.935A>G" "r.(?)" "p.(His312Arg)" "" "0000691009" "00024096" "30" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Pro334=)" "" "0000691010" "00024096" "30" "1140" "-4" "1140" "-4" "c.1140-4A>C" "r.spl?" "p.?" "" "0000691011" "00024096" "50" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.(Arg441Trp)" "" "0000691012" "00024096" "50" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Arg626Trp)" "" "0000691013" "00024096" "30" "3336" "0" "3336" "0" "c.3336G>A" "r.(?)" "p.(Ala1112=)" "" "0000691014" "00024096" "30" "4138" "0" "4138" "0" "c.4138C>A" "r.(?)" "p.(Arg1380=)" "" "0000691015" "00024096" "50" "5530" "0" "5530" "0" "c.5530C>G" "r.(?)" "p.(Pro1844Ala)" "" "0000691016" "00024096" "30" "6002" "0" "6002" "0" "c.6002C>G" "r.(?)" "p.(Ala2001Gly)" "" "0000691017" "00024096" "50" "6561" "0" "6561" "0" "c.6561A>T" "r.(?)" "p.(Arg2187=)" "" "0000691018" "00024096" "50" "6970" "-10" "6970" "-10" "c.6970-10A>G" "r.(=)" "p.(=)" "" "0000691019" "00024096" "50" "7091" "0" "7091" "0" "c.7091G>A" "r.(?)" "p.(Arg2364Gln)" "" "0000691020" "00024096" "90" "7228" "0" "7228" "0" "c.7228G>T" "r.(?)" "p.(Glu2410Ter)" "" "0000712648" "00024096" "50" "4642" "0" "4642" "0" "c.4642C>T" "r.(?)" "p.(Leu1548Phe)" "" "0000723336" "00024096" "30" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" "" "0000723337" "00024096" "50" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Ala318Thr)" "" "0000723338" "00024096" "30" "1086" "0" "1086" "0" "c.1086C>T" "r.(?)" "p.(His362=)" "" "0000723339" "00024096" "50" "2561" "0" "2561" "0" "c.2561C>A" "r.(?)" "p.(Pro854His)" "" "0000723340" "00024096" "50" "3685" "0" "3685" "0" "c.3685G>A" "r.(?)" "p.(Val1229Met)" "" "0000723341" "00024096" "50" "6014" "0" "6014" "0" "c.6014C>T" "r.(?)" "p.(Ser2005Leu)" "" "0000723342" "00024096" "50" "6128" "0" "6128" "0" "c.6128C>T" "r.(?)" "p.(Thr2043Ile)" "" "0000723343" "00024096" "50" "6494" "0" "6494" "0" "c.6494C>A" "r.(?)" "p.(Pro2165Gln)" "" "0000723344" "00024096" "30" "8682" "0" "8682" "0" "c.8682G>A" "r.(?)" "p.(Leu2894=)" "" "0000736809" "00024096" "50" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Pro674Ser)" "" "0000736810" "00024096" "50" "3719" "0" "3719" "0" "c.3719C>T" "r.(?)" "p.(Pro1240Leu)" "" "0000764178" "00024096" "90" "7454" "0" "7454" "0" "c.7454del" "r.(?)" "p.(Arg2485Hisfs*77)" "43" "0000805041" "00024096" "50" "-3093" "0" "-3093" "0" "c.-3093G>A" "r.(?)" "p.(=)" "" "0000805042" "00024096" "30" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Leu31=)" "" "0000805043" "00024096" "30" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Met239Val)" "" "0000805044" "00024096" "30" "3700" "0" "3700" "0" "c.3700C>A" "r.(?)" "p.(Arg1234=)" "" "0000805045" "00024096" "30" "4072" "0" "4072" "0" "c.4072G>A" "r.(?)" "p.(Val1358Met)" "" "0000805046" "00024096" "30" "4857" "0" "4857" "0" "c.4857G>A" "r.(?)" "p.(Ser1619=)" "" "0000805047" "00024096" "50" "5056" "0" "5056" "0" "c.5056A>G" "r.(?)" "p.(Lys1686Glu)" "" "0000805048" "00024096" "30" "5220" "0" "5220" "0" "c.5220C>G" "r.(?)" "p.(Ala1740=)" "" "0000805049" "00024096" "30" "6143" "0" "6143" "0" "c.6143C>T" "r.(?)" "p.(Thr2048Ile)" "" "0000805050" "00024096" "30" "6441" "0" "6441" "0" "c.6441C>T" "r.(?)" "p.(Thr2147=)" "" "0000805051" "00024096" "50" "6706" "0" "6706" "0" "c.6706G>A" "r.(?)" "p.(Glu2236Lys)" "" "0000805052" "00024096" "30" "7237" "0" "7237" "0" "c.7237G>A" "r.(?)" "p.(Val2413Ile)" "" "0000805053" "00024096" "30" "7245" "0" "7245" "0" "c.7245C>T" "r.(?)" "p.(Ser2415=)" "" "0000805054" "00024096" "30" "7517" "-6" "7517" "-6" "c.7517-6G>A" "r.(=)" "p.(=)" "" "0000805055" "00024096" "30" "7926" "0" "7926" "0" "c.7926C>T" "r.(?)" "p.(Ser2642=)" "" "0000852846" "00025872" "30" "1806" "0" "1806" "0" "c.1806C>T" "r.(?)" "p.(Ser602=)" "" "0000852846" "00024096" "30" "1842" "0" "1842" "0" "c.1842C>T" "r.(?)" "p.(Ser614=)" "" "0000852847" "00025872" "90" "5194" "0" "5194" "0" "c.5194C>T" "r.(?)" "p.(Gln1732*)" "" "0000852847" "00024096" "90" "5230" "0" "5230" "0" "c.5230C>T" "r.(?)" "p.(Gln1744*)" "" "0000852848" "00025872" "30" "6279" "0" "6279" "0" "c.6279C>G" "r.(?)" "p.(Leu2093=)" "" "0000852848" "00024096" "30" "6315" "0" "6315" "0" "c.6315C>G" "r.(?)" "p.(Leu2105=)" "" "0000852849" "00025872" "50" "7878" "0" "7878" "0" "c.7878C>G" "r.(?)" "p.(Cys2626Trp)" "" "0000852849" "00024096" "50" "7914" "0" "7914" "0" "c.7914C>G" "r.(?)" "p.(Cys2638Trp)" "" "0000862459" "00025872" "50" "813" "0" "813" "0" "c.813G>T" "r.(?)" "p.(Gly271=)" "" "0000862459" "00024096" "50" "849" "0" "849" "0" "c.849G>T" "r.(?)" "p.(Gly283=)" "" "0000862460" "00025872" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Asp294=)" "" "0000862460" "00024096" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Asp306=)" "" "0000862461" "00025872" "50" "1378" "0" "1378" "0" "c.1378G>C" "r.(?)" "p.(Ala460Pro)" "" "0000862461" "00024096" "50" "1414" "0" "1414" "0" "c.1414G>C" "r.(?)" "p.(Ala472Pro)" "" "0000862462" "00025872" "30" "2745" "0" "2745" "0" "c.2745C>T" "r.(?)" "p.(Cys915=)" "" "0000862462" "00024096" "30" "2781" "0" "2781" "0" "c.2781C>T" "r.(?)" "p.(Cys927=)" "" "0000862463" "00025872" "50" "3142" "0" "3142" "0" "c.3142A>G" "r.(?)" "p.(Ser1048Gly)" "" "0000862463" "00024096" "50" "3178" "0" "3178" "0" "c.3178A>G" "r.(?)" "p.(Ser1060Gly)" "" "0000862464" "00025872" "50" "8570" "0" "8570" "0" "c.8570G>A" "r.(?)" "p.(Cys2857Tyr)" "" "0000862464" "00024096" "50" "8606" "0" "8606" "0" "c.8606G>A" "r.(?)" "p.(Cys2869Tyr)" "" "0000879088" "00024096" "30" "3265" "0" "3265" "0" "c.3265A>G" "r.(?)" "p.(Ile1089Val)" "" "0000889736" "00025872" "90" "1499" "-2" "1499" "-2" "c.1499-2del" "r.spl?" "p.?" "" "0000889736" "00024096" "90" "1535" "-2" "1535" "-2" "c.1535-2del" "r.spl?" "p.?" "" "0000909817" "00024096" "90" "6982" "0" "6982" "0" "c.6982T>A" "r.(?)" "p.(Ser2328Thr)" "" "0000909818" "00024096" "90" "8513" "0" "8513" "0" "c.8513G>A" "r.(?)" "p.(Arg2838His)" "" "0000925353" "00025872" "90" "7630" "0" "7630" "0" "c.7630C>T" "r.(?)" "p.(Arg2544*)" "" "0000925353" "00024096" "90" "7666" "0" "7666" "0" "c.7666C>T" "r.(?)" "p.(Arg2556*)" "" "0000944157" "00024096" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000949637" "00025872" "90" "3988" "0" "3988" "0" "c.3988C>T" "r.(?)" "p.(Gln1330*)" "" "0000949637" "00024096" "90" "4024" "0" "4024" "0" "c.4024C>T" "r.(?)" "p.(Gln1342*)" "" "0000949638" "00025872" "90" "4867" "0" "4867" "0" "c.4867C>T" "r.(?)" "p.(Arg1623*)" "" "0000949638" "00024096" "90" "4903" "0" "4903" "0" "c.4903C>T" "r.(?)" "p.(Arg1635*)" "" "0000966280" "00025872" "50" "7336" "0" "7336" "0" "c.7336T>C" "r.(?)" "p.(Cys2446Arg)" "" "0000966280" "00024096" "50" "7372" "0" "7372" "0" "c.7372T>C" "r.(?)" "p.(Cys2458Arg)" "" "0000979492" "00025872" "50" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Ala58Val)" "" "0000979492" "00024096" "50" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Ala70Val)" "" "0000979493" "00024096" "30" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Val141Met)" "" "0000979494" "00025872" "50" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Glu173Lys)" "" "0000979494" "00024096" "50" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Glu185Lys)" "" "0000979495" "00025872" "50" "2948" "0" "2948" "0" "c.2948G>A" "r.(?)" "p.(Arg983His)" "" "0000979495" "00024096" "50" "2984" "0" "2984" "0" "c.2984G>A" "r.(?)" "p.(Arg995His)" "" "0000979496" "00025872" "90" "3664" "0" "3664" "0" "c.3664C>T" "r.(?)" "p.(Arg1222*)" "" "0000979496" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234*)" "" "0000979497" "00025872" "70" "3988" "0" "3988" "0" "c.3988C>T" "r.(?)" "p.(Gln1330*)" "" "0000979497" "00024096" "70" "4024" "0" "4024" "0" "c.4024C>T" "r.(?)" "p.(Gln1342*)" "" "0000979498" "00025872" "50" "6179" "0" "6179" "0" "c.6179G>T" "r.(?)" "p.(Arg2060Leu)" "" "0000979498" "00024096" "50" "6215" "0" "6215" "0" "c.6215G>T" "r.(?)" "p.(Arg2072Leu)" "" "0000979499" "00024096" "50" "6572" "0" "6572" "0" "c.6572T>C" "r.(?)" "p.(Val2191Ala)" "" "0000979500" "00025872" "50" "7285" "0" "7285" "0" "c.7285G>T" "r.(?)" "p.(Gly2429Trp)" "" "0000979500" "00024096" "50" "7321" "0" "7321" "0" "c.7321G>T" "r.(?)" "p.(Gly2441Trp)" "" "0000979501" "00025872" "90" "7417" "0" "7417" "0" "c.7417C>T" "r.(?)" "p.(Arg2473*)" "" "0000979501" "00024096" "90" "7453" "0" "7453" "0" "c.7453C>T" "r.(?)" "p.(Arg2485*)" "" "0000998925" "00025872" "30" "1628" "0" "1628" "0" "c.1628A>G" "r.(?)" "p.(Asn543Ser)" "" "0000998925" "00024096" "30" "1664" "0" "1664" "0" "c.1664A>G" "r.(?)" "p.(Asn555Ser)" "" "0000998926" "00024096" "30" "3371" "0" "3371" "0" "c.3371A>G" "r.(?)" "p.(Asn1124Ser)" "" "0000998927" "00025872" "30" "5459" "0" "5459" "0" "c.5459C>G" "r.(?)" "p.(Ala1820Gly)" "" "0000998927" "00024096" "30" "5495" "0" "5495" "0" "c.5495C>G" "r.(?)" "p.(Ala1832Gly)" "" "0000998928" "00025872" "30" "5681" "0" "5681" "0" "c.5681C>T" "r.(?)" "p.(Thr1894Met)" "" "0000998928" "00024096" "30" "5717" "0" "5717" "0" "c.5717C>T" "r.(?)" "p.(Thr1906Met)" "" "0000998929" "00025872" "30" "8654" "0" "8654" "0" "c.8654G>A" "r.(?)" "p.(Arg2885His)" "" "0000998929" "00024096" "30" "8690" "0" "8690" "0" "c.8690G>A" "r.(?)" "p.(Arg2897His)" "" "0001038378" "00025872" "50" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Thr485Ile)" "" "0001038378" "00024096" "50" "1490" "0" "1490" "0" "c.1490C>T" "r.(?)" "p.(Thr497Ile)" "" "0001038379" "00025872" "50" "8653" "0" "8653" "0" "c.8653C>T" "r.(?)" "p.(Arg2885Cys)" "" "0001038379" "00024096" "50" "8689" "0" "8689" "0" "c.8689C>T" "r.(?)" "p.(Arg2897Cys)" "" "0001044902" "00025872" "90" "3546" "0" "3546" "0" "c.3546C>A" "r,(?)" "p.(Tyr1182Ter)" "" "0001044903" "00025872" "90" "3987" "0" "4009" "0" "c.3987_4009del" "r,(?)" "p.(Gln1330ProfsTer104)" "" "0001053834" "00025872" "50" "5432" "0" "5432" "0" "c.5432C>T" "r.(?)" "p.(Ala1811Val)" "" "0001053834" "00024096" "50" "5468" "0" "5468" "0" "c.5468C>T" "r.(?)" "p.(Ala1823Val)" "" "0001053835" "00025872" "50" "7523" "0" "7523" "0" "c.7523G>T" "r.(?)" "p.(Arg2508Leu)" "" "0001053835" "00024096" "50" "7559" "0" "7559" "0" "c.7559G>T" "r.(?)" "p.(Arg2520Leu)" "" "0001060834" "00025872" "90" "3664" "0" "3664" "0" "c.3664C>T" "r.(?)" "p.(Arg1222Ter)" "" "0001065432" "00025872" "50" "3141" "3" "3141" "3" "c.3141+3A>G" "r.spl?" "p.?" "" "0001065432" "00024096" "50" "3177" "3" "3177" "3" "c.3177+3A>G" "r.spl?" "p.?" "" "0001084191" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084192" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084193" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084194" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084195" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084196" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084197" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084198" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084199" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084200" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084201" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084202" "00024096" "90" "3700" "0" "3700" "0" "c.3700C>T" "r.(?)" "p.(Arg1234Ter)" "" "0001084203" "00024096" "90" "6347" "0" "6347" "0" "c.6347C>T" "r.(?)" "p.(Pro2116Leu)" "" "0001084204" "00025872" "90" "6523" "0" "6523" "0" "c.6523C>T" "r.(?)" "p.(Arg2175Ter)" "" "0001084204" "00024096" "90" "6559" "0" "6559" "0" "c.6559C>T" "r.(?)" "p.(Arg2187Ter)" "" "0001084205" "00024096" "90" "330" "0" "330" "0" "c.330C>G" "r.(?)" "p.(Tyr110Ter)" "" "0001084206" "00024096" "90" "330" "0" "330" "0" "c.330C>G" "r.(?)" "p.(Tyr110Ter)" "" "0001084207" "00024096" "90" "330" "0" "330" "0" "c.330C>G" "r.(?)" "p.(Tyr110Ter)" "" "0001084208" "00024096" "90" "330" "0" "330" "0" "c.330C>G" "r.(?)" "p.(Tyr110Ter)" "" "0001084241" "00025872" "90" "2464" "0" "2464" "0" "c.2464C>T" "r.(?)" "p.(Gln822Ter)" "" "0001084242" "00025872" "50" "6712" "0" "6712" "0" "c.6712G>A" "r.(?)" "p.(Gly2238Ser)" "" "0001084310" "00025872" "70" "7481" "-5" "7482" "0" "c.7481-5_7482dup" "r.spl" "p.(Cys2495AlafsTer4)" "" "0001084323" "00025872" "90" "2347" "0" "2347" "0" "c.2347C>T" "r.(?)" "p.(Arg783Cys)" "" "0001084323" "00024096" "90" "2383" "0" "2383" "0" "c.2383C>T" "r.(?)" "p.(Arg795Cys)" "" "0001084324" "00024096" "90" "2383" "0" "2383" "0" "c.2383C>T" "r.(?)" "p.(Arg795Cys)" "" "0001084335" "00025872" "90" "2080" "2" "2080" "12" "c.2080+2_2080+12del" "r.spl" "p.?" "" "0001084364" "00025872" "90" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Gln1797Ter)" "" "0001084424" "00025872" "70" "7418" "0" "7418" "0" "c.7418del" "r.(?)" "p.(Arg2473HisfsTer77)" "" "0001084433" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084434" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084435" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084436" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084437" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084438" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084439" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084440" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084441" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084442" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084443" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084444" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084445" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084446" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084447" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084448" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084449" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084450" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084451" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084452" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084453" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084454" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084455" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084456" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084457" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084458" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084459" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084460" "00025872" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Tyr98Ter)" "" "0001084461" "00025872" "90" "1160" "0" "1160" "0" "c.1160G>T" "r.(?)" "p.(Cys387Phe)" "" "0001084462" "00025872" "90" "3397" "0" "3397" "0" "c.3397del" "r.(?)" "p.(Ala1133LeufsTer17)" "" "0001084463" "00025872" "90" "4037" "0" "4037" "0" "c.4037del" "r.(?)" "p.(Val1346GlyfsTer81)" "" "0001084464" "00025872" "90" "4037" "0" "4037" "0" "c.4037del" "r.(?)" "p.(Val1346GlyfsTer81)" "" "0001084465" "00025872" "90" "1160" "0" "1160" "0" "c.1160G>T" "r.(?)" "p.(Cys387Phe)" "" "0001084466" "00025872" "90" "2906" "0" "2906" "0" "c.2906del" "r.(?)" "p.(Pro969LeufsTer43)" "" "0001084467" "00025872" "90" "2906" "0" "2906" "0" "c.2906del" "r.(?)" "p.(Pro969LeufsTer43)" "" "0001084468" "00025872" "90" "3397" "0" "3397" "0" "c.3397del" "r.(?)" "p.(Ala1133LeufsTer17)" "" "0001084469" "00025872" "90" "4037" "0" "4037" "0" "c.4037del" "r.(?)" "p.(Val1346GlyfsTer81)" "" "0001084470" "00025872" "90" "4037" "0" "4037" "0" "c.4037del" "r.(?)" "p.(Val1346GlyfsTer81)" "" "0001084471" "00025872" "90" "4037" "0" "4037" "0" "c.4037del" "r.(?)" "p.(Val1346GlyfsTer81)" "" "0001084472" "00025872" "90" "5184" "0" "5184" "0" "c.5184del" "r.(?)" "p.(His1730ThrfsTer127)" "" "0001084473" "00025872" "90" "5184" "0" "5184" "0" "c.5184del" "r.(?)" "p.(His1730ThrfsTer127)" "" "0001084474" "00025872" "90" "5861" "0" "5861" "0" "c.5861C>G" "r.(?)" "p.(Ala1954Gly)" "" "0001084475" "00025872" "90" "6246" "0" "6246" "0" "c.6246del" "r.(?)" "p.(Val2083CysfsTer24)" "" "0001084476" "00025872" "90" "6985" "0" "6985" "0" "c.6985C>T" "r.(?)" "p.(Gln2329Ter)" "" "0001084477" "00025872" "90" "7487" "0" "7487" "0" "c.7487A>G" "r.(?)" "p.(Asn2496Ser)" "" "0001084478" "00025872" "90" "7630" "0" "7630" "0" "c.7630C>T" "r.(?)" "p.(Arg2544Ter)" "" "0001084479" "00025872" "90" "7686" "0" "7686" "0" "c.7686C>G" "r.(?)" "p.(Tyr2562Ter)" "" "0001084480" "00025872" "90" "7935" "3" "7935" "3" "c.7935+3A>G" "r.spl" "p.?" "" "0001084481" "00025872" "90" "4037" "0" "4037" "0" "c.4037del" "r.(?)" "p.(Val1346GlyfsTer81)" "" "0001084482" "00025872" "90" "7552" "0" "7552" "0" "c.7552C>T" "r.(?)" "p.(Gln2518Ter)" "" "0001084483" "00025872" "70" "1644" "5" "1644" "5" "c.1644+5G>C" "r.spl?" "p.?" "" "0001084486" "00025872" "70" "1644" "5" "1644" "5" "c.1644+5G>C" "r.spl?" "p.?" "" "0001084489" "00025872" "70" "1644" "5" "1644" "5" "c.1644+5G>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 111 "{{screeningid}}" "{{variantid}}" "0000056401" "0000086649" "0000155345" "0000355059" "0000277089" "0000631820" "0000277089" "0000667178" "0000277275" "0000632042" "0000286042" "0000641784" "0000286043" "0000641785" "0000286044" "0000641786" "0000286045" "0000641787" "0000286045" "0001084204" "0000286046" "0000641788" "0000286046" "0001084203" "0000286047" "0000641789" "0000286048" "0000641790" "0000291486" "0000648175" "0000291487" "0000648176" "0000291488" "0000648177" "0000291489" "0000648178" "0000291490" "0000648179" "0000291491" "0000648180" "0000291492" "0000648181" "0000291493" "0000648182" "0000291494" "0000648183" "0000296289" "0000652978" "0000305425" "0000669113" "0000328674" "0000712648" "0000363489" "0000764178" "0000419153" "0000879088" "0000430087" "0000909817" "0000430087" "0000909818" "0000442830" "0000944157" "0000467133" "0001044902" "0000467134" "0001044903" "0000472321" "0001060834" "0000486007" "0001084191" "0000486008" "0001084192" "0000486009" "0001084193" "0000486010" "0001084194" "0000486011" "0001084195" "0000486012" "0001084196" "0000486013" "0001084197" "0000486014" "0001084198" "0000486015" "0001084199" "0000486016" "0001084200" "0000486017" "0001084201" "0000486018" "0001084202" "0000486019" "0001084205" "0000486020" "0001084206" "0000486021" "0001084207" "0000486022" "0001084208" "0000486055" "0001084241" "0000486056" "0001084242" "0000486056" "0001084310" "0000486093" "0001084323" "0000486094" "0001084324" "0000486105" "0001084335" "0000486105" "0001084364" "0000486133" "0001084424" "0000486139" "0001084433" "0000486140" "0001084434" "0000486141" "0001084435" "0000486142" "0001084436" "0000486143" "0001084437" "0000486144" "0001084438" "0000486145" "0001084439" "0000486146" "0001084440" "0000486147" "0001084441" "0000486148" "0001084442" "0000486149" "0001084443" "0000486150" "0001084444" "0000486151" "0001084445" "0000486152" "0001084446" "0000486152" "0001084465" "0000486153" "0001084447" "0000486153" "0001084466" "0000486154" "0001084448" "0000486154" "0001084467" "0000486155" "0001084449" "0000486155" "0001084468" "0000486156" "0001084450" "0000486156" "0001084469" "0000486157" "0001084451" "0000486157" "0001084470" "0000486158" "0001084452" "0000486158" "0001084471" "0000486159" "0001084453" "0000486159" "0001084472" "0000486160" "0001084454" "0000486160" "0001084473" "0000486161" "0001084455" "0000486161" "0001084474" "0000486162" "0001084456" "0000486162" "0001084475" "0000486163" "0001084457" "0000486163" "0001084476" "0000486164" "0001084458" "0000486164" "0001084477" "0000486165" "0001084459" "0000486165" "0001084478" "0000486166" "0001084460" "0000486166" "0001084479" "0000486167" "0001084461" "0000486167" "0001084480" "0000486168" "0001084462" "0000486168" "0001084481" "0000486169" "0001084463" "0000486170" "0001084464" "0000486170" "0001084482" "0000486171" "0001084483" "0000486172" "0001084486" "0000486173" "0001084489"