### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OTOGL) # 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}}" "OTOGL" "otogelin-like" "12" "q21.31" "unknown" "NG_033008.1" "UD_136018384474" "" "http://www.LOVD.nl/OTOGL" "" "1" "26901" "283310" "614925" "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/OTOGL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-17 11:14:30" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00015507" "OTOGL" "otogelin-like" "001" "NM_173591.3" "" "NP_775862.3" "" "" "" "-6" "8077" "7035" "80603233" "80772870" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03797" "DFNB84B" "deafness, autosomal recessive, type 84b (DFNB-84B)" "AR" "614944" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "OTOGL" "03797" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00080144" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00228149" "" "" "" "1" "" "00006" "{PMID:Mahfood 2019:30758234}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "FamPatII3" "00284927" "" "" "" "1" "" "00004" "{PMID:Yariz 2012:23122586}" "" "" "" "" "" "0" "" "" "" "" "00284928" "" "" "" "1" "" "00004" "{PMID:Yariz 2012:23122586}" "" "" "" "" "" "0" "" "" "" "" "00284929" "" "" "" "1" "" "00004" "{PMID:Bonnet 2013:23850727}" "" "" "" "" "" "0" "" "" "" "" "00284930" "" "" "" "1" "" "00004" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "" "" "0" "" "" "" "" "00284931" "" "" "" "1" "" "00004" "{PMID:Lim 2013:23352160}" "" "" "" "" "" "0" "" "" "" "" "00284932" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00284933" "" "" "" "1" "" "00004" "{PMID:Bonnet 2013:23850727}" "" "" "" "" "" "0" "" "" "" "" "00284934" "" "" "" "1" "" "00004" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "" "" "0" "" "" "" "" "00284935" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00284936" "" "" "" "1" "" "00004" "{PMID:Yariz 2012:23122586}" "" "" "" "" "" "0" "" "" "" "" "00284937" "" "" "" "1" "" "00004" "{PMID:Lim 2013:23352160}" "" "" "" "" "" "0" "" "" "" "" "00284938" "" "" "" "1" "" "00004" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "" "" "0" "" "" "" "" "00284939" "" "" "" "1" "" "00004" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "" "" "0" "" "" "" "" "00290798" "" "" "" "34" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290799" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290800" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290801" "" "" "" "79" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304380" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304381" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00325869" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00332253" "" "" "" "1" "" "00000" "{PMID:Astuti 2018:29320387}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Algeria" "" "0" "" "" "" "FamF" "00332411" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00398068" "" "" "" "1" "" "01164" "" "" "F" "yes" "Germany" "" "0" "" "" "" "185896" "00459539" "" "" "" "1" "" "00006" "{PMID:Szczałuba 2018:30238967}, {PMID:Chmielewska 2024:34527963}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Poland" "" "0" "" "" "" "patient;PatB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00080144" "05103" "00228149" "05400" "00284927" "05086" "00284928" "05086" "00284929" "05103" "00284930" "05103" "00284931" "00138" "00284932" "05103" "00284933" "05103" "00284934" "05103" "00284935" "05086" "00284936" "05086" "00284937" "00138" "00284938" "05103" "00284939" "05103" "00290798" "00198" "00290799" "00198" "00290800" "00198" "00290801" "00198" "00304380" "00198" "00304381" "00198" "00325869" "00198" "00332253" "04214" "00332411" "03797" "00398068" "03797" "00459539" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 03797, 04214, 05086, 05103, 05400, 05611 ## Count = 18 "{{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}}" "0000172065" "05400" "00228149" "00006" "Familial, autosomal recessive" "" "congenital bilateral profound sensorineural hearing loss" "" "" "" "" "" "" "" "DFNB-16" "hearing loss" "" "0000216406" "00138" "00284931" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "Autism spectrum disorder" "" "0000216407" "00138" "00284937" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "Autism spectrum disorder" "" "0000218234" "05086" "00284927" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hearing loss, sensorineural" "" "0000218235" "05086" "00284928" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hearing loss, sensorineural" "" "0000218236" "05086" "00284935" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal recessive" "" "0000218237" "05086" "00284936" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hearing loss, sensorineural" "" "0000218561" "05103" "00284929" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218562" "05103" "00284930" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "type 84B" "deafness, autosomal recessive, non-syndromic" "" "0000218563" "05103" "00284932" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "type 84" "deafness, autosomal recessive" "" "0000218564" "05103" "00284933" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218565" "05103" "00284934" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "type 84B" "deafness, autosomal recessive, non-syndromic" "" "0000218566" "05103" "00284938" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "type 84B" "deafness, autosomal recessive, non-syndromic" "" "0000218567" "05103" "00284939" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "type 84B" "deafness, autosomal recessive, non-syndromic" "" "0000244356" "00198" "00325869" "01807" "Unknown" "" "Hearing impairment (HP:0000365); Scotoma (HP:0000575); Keratoconjunctivitis sicca (HP:0001097); Migraine (HP:0002076)" "" "" "" "" "" "" "" "" "" "" "0000250440" "04214" "00332253" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000291178" "03797" "00398068" "01164" "Familial, autosomal recessive" "" "Hearing impairment" "" "" "" "" "" "" "" "" "" "" "0000347616" "05611" "00459539" "00006" "Isolated (sporadic)" "05y" "see paper; ..., pregnancy complicated by maternal kidney stones, hyperemesis; birth-37w cesarean section, weight 3580g (75th), length 56cm (50th), OFC 34cm (25th-50th); no congenital anomalies, no dysmorphic features; feeding difficulties, constipation, frequent infections, slightly raised body temperature, allergy to cow\'s milk; intellectual disability; developmental delay, autistic features; hypotonia; increased immunoglobulin E; 13m-delayed teeth eruption; neurologic sensory; MRI normal non-contrast; no muskuloskeletal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080238" "00080144" "1" "01740" "01740" "2016-09-02 09:29:57" "" "" "SEQ-NG" "DNA" "" "" "0000229236" "00228149" "1" "00006" "00006" "2019-03-18 09:13:32" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000286077" "00284927" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286078" "00284928" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286079" "00284929" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286080" "00284930" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286081" "00284931" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286082" "00284932" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286083" "00284933" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286084" "00284934" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286085" "00284935" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286086" "00284936" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286087" "00284937" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286088" "00284938" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286089" "00284939" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000291966" "00290798" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291967" "00290799" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291968" "00290800" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291969" "00290801" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305509" "00304380" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305510" "00304381" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000327079" "00325869" "1" "01807" "01807" "2021-01-04 12:40:01" "" "" "SEQ" "DNA" "" "" "0000333473" "00332253" "1" "00000" "00006" "2021-02-16 10:11:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000333635" "00332411" "1" "01741" "01741" "2021-02-18 16:28:06" "" "" "SEQ-NG" "DNA" "" "" "0000399311" "00398068" "1" "01164" "01164" "2021-12-31 11:55:19" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000461165" "00459539" "1" "00006" "00006" "2025-01-09 09:19:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000229236" "STRC" "0000286077" "OTOGL" "0000286078" "OTOGL" "0000286079" "OTOGL" "0000286080" "OTOGL" "0000286081" "OTOGL" "0000286082" "OTOGL" "0000286083" "OTOGL" "0000286084" "OTOGL" "0000286085" "OTOGL" "0000286086" "OTOGL" "0000286087" "OTOGL" "0000286088" "OTOGL" "0000286089" "OTOGL" "0000333473" "OTOGL" "0000333635" "OTOGL" "0000399311" "OTOGL" ## 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 = 202 "{{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}}" "0000129191" "0" "50" "12" "80665469" "80665469" "subst" "0.000139933" "01740" "OTOGL_000001" "g.80665469T>C" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.80271689T>C" "" "VUS" "" "0000129192" "0" "50" "12" "80730784" "80730784" "subst" "4.44074E-5" "01740" "OTOGL_000002" "g.80730784G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.80337004G>A" "" "VUS" "" "0000248782" "0" "10" "12" "80747242" "80747242" "subst" "0.842047" "02325" "OTOGL_000017" "g.80747242A>G" "" "" "" "OTOGL(NM_173591.7):c.5545A>G (p.I1849V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80353462A>G" "" "benign" "" "0000248786" "0" "10" "12" "80752660" "80752660" "subst" "0.940933" "02325" "OTOGL_000041" "g.80752660A>G" "" "" "" "OTOGL(NM_173591.7):c.6247A>G (p.I2083V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80358880A>G" "" "benign" "" "0000248860" "0" "10" "12" "80765800" "80765800" "subst" "0.582553" "02325" "OTOGL_000024" "g.80765800A>G" "" "" "" "OTOGL(NM_173591.7):c.6737A>G (p.N2246S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80372020A>G" "" "benign" "" "0000249179" "0" "10" "12" "80672064" "80672064" "subst" "0.72693" "02325" "OTOGL_000008" "g.80672064A>G" "" "" "" "OTOGL(NM_173591.7):c.2789+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80278284A>G" "" "benign" "" "0000249180" "0" "10" "12" "80712307" "80712307" "subst" "0.964859" "02325" "OTOGL_000012" "g.80712307A>C" "" "" "" "OTOGL(NM_173591.7):c.3635-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80318527A>C" "" "benign" "" "0000254483" "0" "30" "12" "80704484" "80704484" "subst" "0.00264805" "01943" "OTOGL_000011" "g.80704484A>G" "" "" "" "OTOGL(NM_173591.3):c.3400A>G (p.I1134V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80310704A>G" "" "likely benign" "" "0000254890" "0" "30" "12" "80696419" "80696419" "subst" "0.00106204" "01943" "OTOGL_000009" "g.80696419A>G" "" "" "" "OTOGL(NM_173591.3):c.3042A>G (p.Q1014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80302639A>G" "" "likely benign" "" "0000255055" "0" "30" "12" "80752545" "80752545" "subst" "0" "01943" "OTOGL_000021" "g.80752545A>C" "" "" "" "OTOGL(NM_173591.3):c.6189A>C (p.T2063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80358765A>C" "" "likely benign" "" "0000296708" "0" "10" "12" "80712420" "80712420" "subst" "0.94832" "02325" "OTOGL_000013" "g.80712420G>A" "" "" "" "OTOGL(NM_173591.7):c.3729G>A (p.P1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80318640G>A" "" "benign" "" "0000296709" "0" "10" "12" "80735771" "80735771" "subst" "0.584568" "02325" "OTOGL_000015" "g.80735771T>C" "" "" "" "OTOGL(NM_173591.7):c.5094T>C (p.N1698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80341991T>C" "" "benign" "" "0000296710" "0" "10" "12" "80761430" "80761430" "subst" "0.76556" "02325" "OTOGL_000022" "g.80761430G>A" "" "" "" "OTOGL(NM_173591.7):c.6421G>A (p.A2141T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80367650G>A" "" "benign" "" "0000296711" "0" "10" "12" "80761465" "80761465" "subst" "0.941498" "02325" "OTOGL_000023" "g.80761465G>A" "" "" "" "OTOGL(NM_173591.7):c.6456G>A (p.T2152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80367685G>A" "" "benign" "" "0000298771" "0" "90" "12" "80752450" "80752450" "subst" "0" "02329" "OTOGL_000020" "g.80752450G>A" "" "" "" "OTOGL(NM_173591.3):c.6095-1G>A, OTOGL(NM_173591.7):c.6122-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80358670G>A" "" "pathogenic" "" "0000304880" "0" "90" "12" "80645580" "80645580" "subst" "0" "01943" "OTOGL_000004" "g.80645580G>C" "" "" "" "OTOGL(NM_173591.3):c.1132+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80251800G>C" "" "pathogenic" "" "0000304881" "0" "30" "12" "80645583" "80645583" "subst" "0" "01943" "OTOGL_000005" "g.80645583T>C" "" "" "" "OTOGL(NM_173591.3):c.1132+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80251803T>C" "" "likely benign" "" "0000304882" "0" "30" "12" "80661098" "80661098" "subst" "0.000982584" "01943" "OTOGL_000007" "g.80661098C>T" "" "" "" "OTOGL(NM_173591.3):c.2429C>T (p.S810L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80267318C>T" "" "likely benign" "" "0000304883" "0" "30" "12" "80699397" "80699397" "subst" "0.00115433" "01943" "OTOGL_000010" "g.80699397T>C" "" "" "" "OTOGL(NM_173591.3):c.3228T>C (p.T1076=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80305617T>C" "" "likely benign" "" "0000304884" "0" "50" "12" "80730692" "80730692" "subst" "0" "01943" "OTOGL_000014" "g.80730692G>A" "" "" "" "OTOGL(NM_173591.3):c.4741G>A (p.A1581T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80336912G>A" "" "VUS" "" "0000304885" "0" "90" "12" "80747146" "80747146" "subst" "0" "01943" "OTOGL_000016" "g.80747146C>T" "" "" "" "OTOGL(NM_173591.3):c.5422C>T (p.R1808*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80353366C>T" "" "pathogenic" "" "0000304886" "0" "10" "12" "80749632" "80749632" "subst" "0.00588704" "01943" "OTOGL_000018" "g.80749632G>A" "" "" "" "OTOGL(NM_173591.3):c.5683G>A (p.D1895N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80355852G>A" "" "benign" "" "0000304887" "0" "30" "12" "80750206" "80750206" "subst" "2.49497E-5" "01943" "OTOGL_000019" "g.80750206G>A" "" "" "" "OTOGL(NM_173591.3):c.5790G>A (p.T1930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80356426G>A" "" "likely benign" "" "0000304888" "0" "90" "12" "80752450" "80752450" "subst" "0" "01943" "OTOGL_000020" "g.80752450G>A" "" "" "" "OTOGL(NM_173591.3):c.6095-1G>A, OTOGL(NM_173591.7):c.6122-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80358670G>A" "" "pathogenic" "" "0000323001" "0" "30" "12" "80765801" "80765801" "subst" "4.7615E-6" "01804" "OTOGL_000025" "g.80765801T>C" "" "" "" "OTOGL(NM_173591.3):c.6711T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80372021T>C" "" "likely benign" "" "0000338788" "0" "10" "12" "80663952" "80663952" "subst" "0.0767959" "02327" "OTOGL_000031" "g.80663952G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80270172G>A" "" "benign" "" "0000338789" "0" "10" "12" "80672064" "80672064" "subst" "0.72693" "02327" "OTOGL_000008" "g.80672064A>G" "" "" "" "OTOGL(NM_173591.7):c.2789+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80278284A>G" "" "benign" "" "0000338790" "0" "10" "12" "80707236" "80707236" "subst" "0.184673" "02327" "OTOGL_000033" "g.80707236T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80313456T>A" "" "benign" "" "0000338791" "0" "10" "12" "80712307" "80712307" "subst" "0.964859" "02327" "OTOGL_000012" "g.80712307A>C" "" "" "" "OTOGL(NM_173591.7):c.3635-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80318527A>C" "" "benign" "" "0000340696" "0" "10" "12" "80735771" "80735771" "subst" "0.584568" "02327" "OTOGL_000015" "g.80735771T>C" "" "" "" "OTOGL(NM_173591.7):c.5094T>C (p.N1698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80341991T>C" "" "benign" "" "0000340892" "0" "10" "12" "80712420" "80712420" "subst" "0.94832" "02327" "OTOGL_000013" "g.80712420G>A" "" "" "" "OTOGL(NM_173591.7):c.3729G>A (p.P1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80318640G>A" "" "benign" "" "0000340996" "0" "10" "12" "80761465" "80761465" "subst" "0.941498" "02327" "OTOGL_000023" "g.80761465G>A" "" "" "" "OTOGL(NM_173591.7):c.6456G>A (p.T2152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80367685G>A" "" "benign" "" "0000340999" "0" "10" "12" "80771813" "80771813" "subst" "0.76911" "02327" "OTOGL_000044" "g.80771813G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80378033G>A" "" "benign" "" "0000341267" "0" "10" "12" "80761430" "80761430" "subst" "0.76556" "02327" "OTOGL_000022" "g.80761430G>A" "" "" "" "OTOGL(NM_173591.7):c.6421G>A (p.A2141T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80367650G>A" "" "benign" "" "0000342043" "0" "90" "12" "80733008" "80733008" "subst" "1.23229E-5" "02327" "OTOGL_000036" "g.80733008C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80339228C>T" "" "pathogenic" "" "0000342117" "0" "90" "12" "80623121" "80623121" "subst" "3.88282E-5" "02327" "OTOGL_000027" "g.80623121C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80229341C>T" "" "pathogenic" "" "0000342181" "0" "10" "12" "80750659" "80750659" "subst" "0.173992" "02327" "OTOGL_000039" "g.80750659G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80356879G>A" "" "benign" "" "0000342705" "0" "90" "12" "80645498" "80645498" "subst" "4.75783E-5" "02327" "OTOGL_000028" "g.80645498C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80251718C>T" "" "pathogenic" "" "0000343656" "0" "10" "12" "80765800" "80765800" "subst" "0.582553" "02327" "OTOGL_000024" "g.80765800A>G" "" "" "" "OTOGL(NM_173591.7):c.6737A>G (p.N2246S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80372020A>G" "" "benign" "" "0000343926" "0" "50" "12" "80729851" "80729851" "subst" "8.61935E-6" "02327" "OTOGL_000035" "g.80729851G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80336071G>T" "" "VUS" "" "0000344455" "0" "90" "12" "80613613" "80613613" "subst" "0" "02327" "OTOGL_000026" "g.80613613C>A" "" "" "" "OTOGL(NM_173591.3):c.228C>A (p.(Cys76*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80219833C>A" "" "pathogenic" "" "0000344502" "0" "10" "12" "80699475" "80699475" "subst" "0.0893373" "02327" "OTOGL_000032" "g.80699475G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80305695G>T" "" "benign" "" "0000344652" "0" "90" "12" "80760384" "80760384" "subst" "0" "02327" "OTOGL_000042" "g.80760384C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80366604C>T" "" "pathogenic" "" "0000346615" "0" "10" "12" "80747242" "80747242" "subst" "0.842047" "02327" "OTOGL_000017" "g.80747242A>G" "" "" "" "OTOGL(NM_173591.7):c.5545A>G (p.I1849V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80353462A>G" "" "benign" "" "0000346629" "0" "10" "12" "80752660" "80752660" "subst" "0.940933" "02327" "OTOGL_000041" "g.80752660A>G" "" "" "" "OTOGL(NM_173591.7):c.6247A>G (p.I2083V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80358880A>G" "" "benign" "" "0000346958" "0" "10" "12" "80747209" "80747209" "subst" "0.176183" "02327" "OTOGL_000038" "g.80747209C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80353429C>G" "" "benign" "" "0000346991" "0" "10" "12" "80761411" "80761411" "subst" "0.165228" "02327" "OTOGL_000043" "g.80761411G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80367631G>T" "" "benign" "" "0000349180" "0" "50" "12" "80661098" "80661098" "subst" "0.000982584" "02327" "OTOGL_000007" "g.80661098C>T" "" "" "" "OTOGL(NM_173591.3):c.2429C>T (p.S810L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80267318C>T" "" "VUS" "" "0000349895" "0" "50" "12" "80712344" "80712344" "subst" "3.86339E-5" "02327" "OTOGL_000034" "g.80712344A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80318564A>G" "" "VUS" "" "0000350189" "0" "90" "12" "80660256" "80660257" "dup" "0" "02327" "OTOGL_000030" "g.80660256_80660257dup" "" "" "" "OTOGL(NM_173591.3):c.2223_2224dupGT (p.(Tyr742fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80266476_80266477dup" "" "pathogenic" "" "0000350772" "0" "70" "12" "80735947" "80735947" "subst" "0" "02327" "OTOGL_000037" "g.80735947G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80342167G>A" "" "likely pathogenic" "" "0000470386" "3" "30" "12" "80760298" "80760311" "dup" "0" "00006" "OTOGL_000044" "g.80760298_80760311dup" "" "{PMID:Mahfood 2019:30758234}" "" "" "" "Germline" "" "" "0" "" "" "g.80366518_80366531dup" "" "likely benign" "" "0000470387" "3" "30" "12" "80765687" "80765687" "subst" "0" "00006" "OTOGL_000045" "g.80765687G>A" "" "{PMID:Mahfood 2019:30758234}" "" "" "" "Germline" "" "" "0" "" "" "g.80371907G>A" "" "likely benign" "" "0000549181" "0" "30" "12" "80604640" "80604640" "subst" "0.000111576" "01943" "OTOGL_000046" "g.80604640A>G" "" "" "" "OTOGL(NM_173591.3):c.66A>G (p.A22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80210860A>G" "" "likely benign" "" "0000549182" "0" "30" "12" "80604643" "80604643" "subst" "2.81305E-5" "01943" "OTOGL_000047" "g.80604643G>A" "" "" "" "OTOGL(NM_173591.3):c.69G>A (p.S23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80210863G>A" "" "likely benign" "" "0000549183" "0" "50" "12" "80605734" "80605734" "subst" "0" "01943" "OTOGL_000048" "g.80605734G>T" "" "" "" "OTOGL(NM_173591.3):c.98G>T (p.G33V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80211954G>T" "" "VUS" "" "0000549184" "0" "30" "12" "80611410" "80611410" "subst" "0" "01943" "OTOGL_000049" "g.80611410T>C" "" "" "" "OTOGL(NM_173591.3):c.174T>C (p.H58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80217630T>C" "" "likely benign" "" "0000549185" "0" "10" "12" "80613589" "80613589" "dup" "0" "01943" "OTOGL_000050" "g.80613589dup" "" "" "" "OTOGL(NM_173591.3):c.209-5dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80219809dup" "" "benign" "" "0000549186" "0" "90" "12" "80613686" "80613686" "subst" "0" "02327" "OTOGL_000051" "g.80613686C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80219906C>T" "" "pathogenic" "" "0000549187" "0" "30" "12" "80632742" "80632742" "subst" "0.00268534" "01943" "OTOGL_000052" "g.80632742G>A" "" "" "" "OTOGL(NM_173591.3):c.902G>A (p.G301E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80238962G>A" "" "likely benign" "" "0000549190" "0" "30" "12" "80645849" "80645849" "subst" "0.000232912" "01804" "OTOGL_000054" "g.80645849G>C" "" "" "" "OTOGL(NM_173591.3):c.1133-7G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80252069G>C" "" "likely benign" "" "0000549191" "0" "50" "12" "80645894" "80645894" "subst" "3.56939E-5" "01943" "OTOGL_000055" "g.80645894A>T" "" "" "" "OTOGL(NM_001378609.3):c.1198A>T (p.(Ile400Phe)), OTOGL(NM_173591.3):c.1171A>T (p.I391F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80252114A>T" "" "VUS" "" "0000549192" "0" "30" "12" "80645894" "80645894" "subst" "3.56939E-5" "01804" "OTOGL_000055" "g.80645894A>T" "" "" "" "OTOGL(NM_001378609.3):c.1198A>T (p.(Ile400Phe)), OTOGL(NM_173591.3):c.1171A>T (p.I391F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80252114A>T" "" "likely benign" "" "0000549193" "0" "30" "12" "80648301" "80648301" "subst" "5.37488E-5" "01943" "OTOGL_000056" "g.80648301T>C" "" "" "" "OTOGL(NM_173591.3):c.1368-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80254521T>C" "" "likely benign" "" "0000549194" "0" "30" "12" "80648360" "80648360" "subst" "0.000972449" "01943" "OTOGL_000057" "g.80648360T>A" "" "" "" "OTOGL(NM_173591.3):c.1414+10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80254580T>A" "" "likely benign" "" "0000549195" "0" "90" "12" "80648963" "80648963" "subst" "0" "02327" "OTOGL_000058" "g.80648963C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80255183C>T" "" "pathogenic" "" "0000549196" "0" "30" "12" "80650113" "80650113" "subst" "7.81739E-5" "01943" "OTOGL_000059" "g.80650113G>A" "" "" "" "OTOGL(NM_173591.3):c.1561-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80256333G>A" "" "likely benign" "" "0000549197" "0" "50" "12" "80655849" "80655849" "subst" "0.00253082" "01943" "OTOGL_000060" "g.80655849C>T" "" "" "" "OTOGL(NM_173591.3):c.1963C>T (p.P655S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80262069C>T" "" "VUS" "" "0000549198" "0" "50" "12" "80660351" "80660351" "subst" "0.000777554" "01943" "OTOGL_000061" "g.80660351C>T" "" "" "" "OTOGL(NM_173591.3):c.2318C>T (p.P773L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80266571C>T" "" "VUS" "" "0000549200" "0" "70" "12" "80661031" "80661031" "subst" "0" "02327" "OTOGL_000063" "g.80661031A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80267251A>G" "" "likely pathogenic" "" "0000549201" "0" "30" "12" "80663933" "80663933" "subst" "0" "01804" "OTOGL_000064" "g.80663933T>C" "" "" "" "OTOGL(NM_173591.3):c.2490T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80270153T>C" "" "likely benign" "" "0000549202" "0" "10" "12" "80665459" "80665459" "subst" "0.00254581" "01943" "OTOGL_000065" "g.80665459C>T" "" "" "" "OTOGL(NM_173591.3):c.2523C>T (p.F841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80271679C>T" "" "benign" "" "0000549203" "0" "50" "12" "80665473" "80665473" "subst" "0.000740765" "01943" "OTOGL_000066" "g.80665473C>T" "" "" "" "OTOGL(NM_173591.3):c.2537C>T (p.P846L, p.(Pro846Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80271693C>T" "" "VUS" "" "0000549204" "0" "90" "12" "80672818" "80672818" "subst" "3.46428E-5" "02327" "OTOGL_000067" "g.80672818C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80279038C>T" "" "pathogenic" "" "0000549205" "0" "50" "12" "80690614" "80690614" "subst" "1.49806E-5" "01943" "OTOGL_000068" "g.80690614A>G" "" "" "" "OTOGL(NM_173591.3):c.2909A>G (p.D970G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80296834A>G" "" "VUS" "" "0000549208" "0" "50" "12" "80696541" "80696542" "ins" "1.17347E-5" "02327" "OTOGL_000070" "g.80696541_80696542insAAA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80302761_80302762insAAA" "" "VUS" "" "0000549209" "0" "50" "12" "80699419" "80699419" "subst" "0" "01943" "OTOGL_000071" "g.80699419A>C" "" "" "" "OTOGL(NM_001378609.3):c.3277A>C (p.(Asn1093His)), OTOGL(NM_173591.3):c.3250A>C (p.N1084H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80305639A>C" "" "VUS" "" "0000549210" "0" "30" "12" "80704413" "80704413" "subst" "0.00110245" "01943" "OTOGL_000072" "g.80704413T>C" "" "" "" "OTOGL(NM_173591.3):c.3329T>C (p.I1110T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80310633T>C" "" "likely benign" "" "0000549211" "0" "30" "12" "80704450" "80704450" "subst" "0.000137714" "01943" "OTOGL_000073" "g.80704450T>C" "" "" "" "OTOGL(NM_173591.3):c.3366T>C (p.Y1122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80310670T>C" "" "likely benign" "" "0000549214" "0" "50" "12" "80707362" "80707362" "subst" "5.75317E-5" "01943" "OTOGL_000076" "g.80707362A>G" "" "" "" "OTOGL(NM_173591.3):c.3530A>G (p.K1177R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80313582A>G" "" "VUS" "" "0000549215" "0" "30" "12" "80712425" "80712425" "subst" "0" "01804" "OTOGL_000077" "g.80712425G>A" "" "" "" "OTOGL(NM_173591.3):c.3707G>A (p.(Ser1236Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80318645G>A" "" "likely benign" "" "0000549216" "0" "10" "12" "80714288" "80714288" "subst" "0.000842436" "01943" "OTOGL_000078" "g.80714288T>A" "" "" "" "OTOGL(NM_173591.3):c.3862T>A (p.W1288R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80320508T>A" "" "benign" "" "0000549217" "0" "50" "12" "80714318" "80714318" "subst" "1.6449E-5" "02327" "OTOGL_000079" "g.80714318G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80320538G>A" "" "VUS" "" "0000549218" "0" "50" "12" "80717557" "80717557" "subst" "3.69319E-5" "02327" "OTOGL_000080" "g.80717557G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80323777G>A" "" "VUS" "" "0000549219" "0" "30" "12" "80722828" "80722828" "subst" "0" "01804" "OTOGL_000081" "g.80722828T>A" "" "" "" "OTOGL(NM_173591.3):c.4253-3T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80329048T>A" "" "likely benign" "" "0000549220" "0" "90" "12" "80726789" "80726789" "subst" "1.85474E-5" "02327" "OTOGL_000082" "g.80726789G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80333009G>A" "" "pathogenic" "" "0000549221" "0" "30" "12" "80729766" "80729766" "subst" "6.79705E-5" "01943" "OTOGL_000083" "g.80729766T>C" "" "" "" "OTOGL(NM_173591.3):c.4419T>C (p.Y1473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80335986T>C" "" "likely benign" "" "0000549222" "0" "30" "12" "80730197" "80730197" "subst" "0.000420106" "01943" "OTOGL_000084" "g.80730197G>A" "" "" "" "OTOGL(NM_173591.3):c.4578G>A (p.R1526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80336417G>A" "" "likely benign" "" "0000549223" "0" "30" "12" "80730246" "80730246" "subst" "1.65638E-5" "01943" "OTOGL_000085" "g.80730246G>A" "" "" "" "OTOGL(NM_173591.3):c.4627G>A (p.A1543T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80336466G>A" "" "likely benign" "" "0000549224" "0" "50" "12" "80730315" "80730315" "subst" "1.67019E-5" "02327" "OTOGL_000086" "g.80730315G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80336535G>A" "" "VUS" "" "0000549226" "0" "70" "12" "80735727" "80735727" "subst" "0" "02327" "OTOGL_000088" "g.80735727G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80341947G>T" "" "likely pathogenic" "" "0000549227" "0" "50" "12" "80735746" "80735746" "subst" "0.000565219" "01943" "OTOGL_000089" "g.80735746C>T" "" "" "" "OTOGL(NM_173591.3):c.5042C>T (p.P1681L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80341966C>T" "" "VUS" "" "0000549228" "0" "30" "12" "80749634" "80749634" "subst" "2.87578E-5" "01943" "OTOGL_000090" "g.80749634C>G" "" "" "" "OTOGL(NM_173591.3):c.5685C>G (p.D1895E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80355854C>G" "" "likely benign" "" "0000549229" "0" "30" "12" "80752021" "80752021" "subst" "0.00038743" "01943" "OTOGL_000091" "g.80752021A>G" "" "" "" "OTOGL(NM_173591.3):c.5993-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80358241A>G" "" "likely benign" "" "0000549230" "0" "10" "12" "80752485" "80752485" "subst" "0.00206147" "01943" "OTOGL_000092" "g.80752485C>T" "" "" "" "OTOGL(NM_173591.3):c.6129C>T (p.L2043=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80358705C>T" "" "benign" "" "0000549231" "0" "30" "12" "80760369" "80760369" "subst" "0.000887107" "01943" "OTOGL_000093" "g.80760369A>G" "" "" "" "OTOGL(NM_173591.3):c.6256A>G (p.I2086V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80366589A>G" "" "likely benign" "" "0000549232" "0" "30" "12" "80761457" "80761457" "subst" "0" "01943" "OTOGL_000094" "g.80761457A>G" "" "" "" "OTOGL(NM_173591.3):c.6421A>G (p.N2141D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80367677A>G" "" "likely benign" "" "0000549233" "0" "90" "12" "80761503" "80761503" "subst" "0" "02327" "OTOGL_000095" "g.80761503C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80367723C>A" "" "pathogenic" "" "0000549234" "0" "50" "12" "80761995" "80761995" "subst" "0.000124619" "01943" "OTOGL_000096" "g.80761995A>G" "" "" "" "OTOGL(NM_173591.3):c.6494A>G (p.Y2165C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80368215A>G" "" "VUS" "" "0000549235" "0" "30" "12" "80761998" "80761998" "subst" "0" "01943" "OTOGL_000097" "g.80761998C>A" "" "" "" "OTOGL(NM_173591.3):c.6497C>A (p.T2166N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80368218C>A" "" "likely benign" "" "0000549236" "0" "30" "12" "80764360" "80764360" "subst" "0.00099732" "01943" "OTOGL_000098" "g.80764360C>T" "" "" "" "OTOGL(NM_173591.3):c.6599C>T (p.T2200I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80370580C>T" "" "likely benign" "" "0000549238" "0" "50" "12" "80771734" "80771734" "subst" "0.00139458" "01943" "OTOGL_000100" "g.80771734G>A" "" "" "" "OTOGL(NM_173591.3):c.6941G>A (p.R2314Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80377954G>A" "" "VUS" "" "0000614385" "0" "90" "12" "80633112" "80633112" "subst" "8.45573E-6" "02327" "OTOGL_000101" "g.80633112G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80239332G>A" "" "pathogenic" "" "0000614386" "0" "30" "12" "80645533" "80645533" "subst" "0.000122873" "01943" "OTOGL_000102" "g.80645533T>C" "" "" "" "OTOGL(NM_173591.3):c.1086T>C (p.H362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80251753T>C" "" "likely benign" "" "0000614387" "0" "50" "12" "80660395" "80660395" "subst" "3.71683E-5" "01943" "OTOGL_000103" "g.80660395A>G" "" "" "" "OTOGL(NM_173591.3):c.2362A>G (p.I788V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80266615A>G" "" "VUS" "" "0000614388" "0" "50" "12" "80665524" "80665524" "subst" "0" "01943" "OTOGL_000104" "g.80665524A>C" "" "" "" "OTOGL(NM_173591.3):c.2588A>C (p.N863T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80271744A>C" "" "VUS" "" "0000614389" "0" "30" "12" "80730793" "80730793" "subst" "0" "01943" "OTOGL_000106" "g.80730793A>G" "" "" "" "OTOGL(NM_173591.3):c.4833+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80337013A>G" "" "likely benign" "" "0000614390" "0" "30" "12" "80746116" "80746116" "subst" "0.00310114" "01943" "OTOGL_000107" "g.80746116T>C" "" "" "" "OTOGL(NM_173591.3):c.5280T>C (p.Y1760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80352336T>C" "" "likely benign" "" "0000614391" "0" "50" "12" "80747246" "80747246" "subst" "0" "01943" "OTOGL_000109" "g.80747246T>C" "" "" "" "OTOGL(NM_173591.3):c.5522T>C (p.L1841P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80353466T>C" "" "VUS" "" "0000614392" "0" "30" "12" "80762087" "80762087" "subst" "0.000184787" "01943" "OTOGL_000111" "g.80762087G>T" "" "" "" "OTOGL(NM_173591.3):c.6586G>T (p.A2196S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80368307G>T" "" "likely benign" "" "0000622976" "0" "30" "12" "80665565" "80665565" "subst" "0" "01943" "OTOGL_000105" "g.80665565A>T" "" "" "" "OTOGL(NM_173591.3):c.2629A>T (p.I877L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80271785A>T" "" "likely benign" "" "0000622977" "0" "50" "12" "80746219" "80746222" "del" "0" "01943" "OTOGL_000108" "g.80746219_80746222del" "" "" "" "OTOGL(NM_173591.3):c.5380+3_5380+6delGAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80352439_80352442del" "" "VUS" "" "0000622978" "0" "30" "12" "80752544" "80752544" "subst" "4.12998E-6" "01943" "OTOGL_000110" "g.80752544C>T" "" "" "" "OTOGL(NM_173591.3):c.6188C>T (p.T2063I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80358764C>T" "" "likely benign" "" "0000622979" "0" "50" "12" "80764425" "80764425" "subst" "0.000235185" "01943" "OTOGL_000112" "g.80764425T>A" "" "" "" "OTOGL(NM_173591.3):c.6664T>A (p.Y2222N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80370645T>A" "" "VUS" "" "0000641819" "1" "99" "12" "80623121" "80623121" "subst" "3.88282E-5" "00004" "OTOGL_000027" "g.80623121C>T" "" "{DB:DVD}, {PMID:Yariz 2012:23122586}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80229341C>T" "" "pathogenic" "" "0000641820" "1" "99" "12" "80648835" "80648835" "del" "0" "00004" "OTOGL_000113" "g.80648835del" "" "{DB:DVD}, {PMID:Yariz 2012:23122586}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80255055del" "" "pathogenic" "" "0000641821" "1" "99" "12" "80648963" "80648963" "subst" "0" "00004" "OTOGL_000058" "g.80648963C>T" "" "{DB:DVD}, {PMID:Bonnet 2013:23850727}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80255183C>T" "" "pathogenic" "" "0000641822" "1" "99" "12" "80651769" "80651769" "del" "0" "00004" "OTOGL_000114" "g.80651769del" "" "{DB:DVD}, {PMID:Sloan-Heggen 2016:26969326}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80257989del" "" "pathogenic" "" "0000641823" "1" "77" "12" "80655748" "80655748" "subst" "2.89292E-5" "00004" "OTOGL_000115" "g.80655748G>T" "" "{DB:DVD}, {PMID:Lim 2013:23352160}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80261968G>T" "" "likely pathogenic" "" "0000641824" "1" "77" "12" "80672619" "80672619" "subst" "0" "00004" "OTOGL_000116" "g.80672619G>T" "" "{DB:DVD}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "SUMMARY record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000641825" "1" "99" "12" "80672818" "80672818" "subst" "3.46428E-5" "00004" "OTOGL_000067" "g.80672818C>T" "" "{DB:DVD}, {PMID:Bonnet 2013:23850727}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80279038C>T" "" "pathogenic" "" "0000641826" "1" "99" "12" "80729911" "80729911" "subst" "9.06306E-6" "00004" "OTOGL_000117" "g.80729911G>T" "" "{DB:DVD}, {PMID:Sloan-Heggen 2016:26969326}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80336131G>T" "" "pathogenic" "" "0000641827" "1" "99" "12" "80735931" "80735931" "subst" "0" "00004" "OTOGL_000118" "g.80735931T>C" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80342151T>C" "" "pathogenic" "" "0000641828" "1" "99" "12" "80735947" "80735947" "subst" "0" "00004" "OTOGL_000037" "g.80735947G>A" "" "{DB:DVD}, {PMID:Yariz 2012:23122586}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80342167G>A" "" "pathogenic" "" "0000641829" "1" "77" "12" "80747146" "80747146" "subst" "0" "00004" "OTOGL_000016" "g.80747146C>T" "" "{DB:DVD}, {PMID:Lim 2013:23352160}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80353366C>T" "" "likely pathogenic" "" "0000641830" "1" "99" "12" "80750699" "80750699" "subst" "0.000169013" "00004" "OTOGL_000119" "g.80750699G>A" "" "{DB:DVD}, {PMID:Sloan-Heggen 2016:26969326}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80356919G>A" "" "pathogenic" "" "0000641831" "1" "99" "12" "80764362" "80764363" "del" "2.50539E-5" "00004" "OTOGL_000120" "g.80764362_80764363del" "" "{DB:DVD}, {PMID:Sloan-Heggen 2016:26969326}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.80370582_80370583del" "" "pathogenic" "" "0000648655" "1" "30" "12" "80655849" "80655849" "subst" "0.00253082" "03575" "OTOGL_000060" "g.80655849C>T" "34/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "34 heterozygous; {DB:CLININrs76420383}" "Germline" "" "rs76420383" "0" "" "" "g.80262069C>T" "" "likely benign" "" "0000648656" "1" "30" "12" "80665459" "80665459" "subst" "0.00254581" "03575" "OTOGL_000065" "g.80665459C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs77835094}" "Germline" "" "rs77835094" "0" "" "" "g.80271679C>T" "" "likely benign" "" "0000648657" "1" "10" "12" "80696475" "80696475" "subst" "0.00717907" "03575" "OTOGL_000069" "g.80696475A>G" "1/2701 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs12304169}" "Germline" "" "rs12304169" "0" "" "" "g.80302695A>G" "" "benign" "" "0000648658" "1" "10" "12" "80735737" "80735737" "subst" "0.0365511" "03575" "OTOGL_000121" "g.80735737A>G" "79/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "79 heterozygous; {DB:CLININrs61735664}" "Germline" "" "rs61735664" "0" "" "" "g.80341957A>G" "" "benign" "" "0000657204" "0" "50" "12" "80626779" "80626779" "subst" "0" "01943" "OTOGL_000122" "g.80626779G>C" "" "" "" "OTOGL(NM_173591.3):c.692G>C (p.G231A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80232999G>C" "" "VUS" "" "0000657205" "0" "90" "12" "80672878" "80672878" "subst" "6.47987E-5" "01943" "OTOGL_000123" "g.80672878C>T" "" "" "" "OTOGL(NM_173591.3):c.2833C>T (p.R945*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80279098C>T" "" "pathogenic" "" "0000669197" "3" "30" "12" "80655849" "80655849" "subst" "0.00253082" "03575" "OTOGL_000060" "g.80655849C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs76420383}" "Germline" "" "rs76420383" "0" "" "" "g.80262069C>T" "" "likely benign" "" "0000669198" "3" "10" "12" "80735737" "80735737" "subst" "0.0365511" "03575" "OTOGL_000121" "g.80735737A>G" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs61735664}" "Germline" "" "rs61735664" "0" "" "" "g.80341957A>G" "" "benign" "" "0000679655" "0" "90" "12" "80632654" "80632655" "del" "0" "01943" "OTOGL_000124" "g.80632654_80632655del" "" "" "" "OTOGL(NM_173591.3):c.814_815delAT (p.M272Vfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679656" "0" "50" "12" "80645885" "80645885" "subst" "5.6224E-5" "01943" "OTOGL_000125" "g.80645885C>T" "" "" "" "OTOGL(NM_173591.3):c.1162C>T (p.R388W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679657" "0" "50" "12" "80749618" "80749618" "subst" "4.10816E-6" "01804" "OTOGL_000126" "g.80749618T>C" "" "" "" "OTOGL(NM_173591.3):c.5669T>C (p.(Ile1890Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679658" "0" "50" "12" "80750699" "80750699" "subst" "0.000169013" "01943" "OTOGL_000119" "g.80750699G>A" "" "" "" "OTOGL(NM_173591.3):c.5992+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691428" "0" "50" "12" "80730752" "80730752" "subst" "3.747E-5" "01943" "OTOGL_000127" "g.80730752C>T" "" "" "" "OTOGL(NM_173591.3):c.4801C>T (p.H1601Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691429" "0" "30" "12" "80733054" "80733054" "subst" "0" "01943" "OTOGL_000128" "g.80733054G>A" "" "" "" "OTOGL(NM_173591.3):c.5023+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691430" "0" "90" "12" "80747146" "80747146" "subst" "0" "02327" "OTOGL_000016" "g.80747146C>T" "" "" "" "OTOGL(NM_173591.3):c.5422C>T (p.R1808*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000698979" "0" "50" "12" "80707347" "80707347" "subst" "2.05349E-5" "03779" "OTOGL_000074" "g.80707347C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs370905822" "0" "" "" "" "" "VUS" "" "0000698980" "0" "50" "12" "80707359" "80707359" "subst" "2.0543E-5" "03779" "OTOGL_000075" "g.80707359A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs762161276" "0" "" "" "" "" "VUS" "" "0000710711" "0" "90" "12" "80696425" "80696425" "dup" "0" "01807" "OTOGL_000129" "g.80696425dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000724243" "0" "30" "12" "80651716" "80651716" "subst" "0.000683864" "01943" "OTOGL_000130" "g.80651716G>A" "" "" "" "OTOGL(NM_173591.3):c.1796G>A (p.S599N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724244" "0" "90" "12" "80655799" "80655799" "subst" "9.04077E-5" "02327" "OTOGL_000131" "g.80655799G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724245" "0" "30" "12" "80660309" "80660309" "subst" "4.93559E-5" "01943" "OTOGL_000132" "g.80660309C>T" "" "" "" "OTOGL(NM_173591.3):c.2276C>T (p.P759L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724246" "0" "50" "12" "80660310" "80660310" "subst" "5.34742E-5" "02327" "OTOGL_000133" "g.80660310G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724247" "0" "90" "12" "80672878" "80672878" "subst" "6.47987E-5" "02327" "OTOGL_000123" "g.80672878C>T" "" "" "" "OTOGL(NM_173591.3):c.2833C>T (p.R945*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724248" "0" "50" "12" "80707293" "80707293" "subst" "0.00191412" "01943" "OTOGL_000134" "g.80707293A>G" "" "" "" "OTOGL(NM_173591.3):c.3461A>G (p.D1154G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724249" "0" "50" "12" "80712340" "80712340" "subst" "0" "02327" "OTOGL_000135" "g.80712340C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724250" "0" "10" "12" "80717630" "80717630" "subst" "0.00207412" "02327" "OTOGL_000136" "g.80717630G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724251" "0" "50" "12" "80735896" "80735896" "subst" "1.35879E-5" "02327" "OTOGL_000137" "g.80735896G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724252" "0" "50" "12" "80749624" "80749624" "subst" "9.03869E-5" "02327" "OTOGL_000138" "g.80749624T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724253" "0" "90" "12" "80750288" "80750288" "subst" "0" "02327" "OTOGL_000139" "g.80750288C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724254" "0" "30" "12" "80752443" "80752443" "subst" "5.52364E-5" "01943" "OTOGL_000140" "g.80752443C>A" "" "" "" "OTOGL(NM_001378609.3):c.6122-8C>A, OTOGL(NM_173591.3):c.6095-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000731124" "1" "50" "12" "80660351" "80660351" "subst" "0.000777554" "00000" "OTOGL_000061" "g.80660351C>T" "" "{PMID:Astuti 2018:29320387}" "" "" "ACMG PM3, PP3, BS2" "Germline" "" "" "0" "" "" "g.80266571C>T" "" "VUS" "ACMG" "0000731130" "2" "90" "12" "80672878" "80672878" "subst" "6.47987E-5" "00000" "OTOGL_000123" "g.80672878C>T" "" "{PMID:Astuti 2018:29320387}" "" "" "ACMG PVS1, PM3" "Germline" "" "" "0" "" "" "g.80279098C>T" "" "pathogenic (recessive)" "ACMG" "0000731350" "0" "90" "12" "80632665" "80732812" "delins" "0" "01741" "OTOGL_000141" "g.80632665_80732812delinsCATATTTAACATA" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000731351" "0" "90" "12" "80721768" "80722637" "del" "0" "01741" "OTOGL_000142" "g.80721768_80722637del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "" "0000805948" "0" "90" "12" "80626878" "80626878" "subst" "0" "02327" "OTOGL_000143" "g.80626878G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805949" "0" "90" "12" "80648946" "80648946" "del" "1.4986E-5" "01943" "OTOGL_000144" "g.80648946del" "" "" "" "OTOGL(NM_173591.3):c.1541delA (p.Q514Rfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805950" "0" "50" "12" "80696534" "80696534" "subst" "0.000151892" "01943" "OTOGL_000145" "g.80696534A>T" "" "" "" "OTOGL(NM_173591.3):c.3157A>T (p.I1053F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805951" "0" "50" "12" "80704458" "80704458" "subst" "0" "01943" "OTOGL_000146" "g.80704458A>G" "" "" "" "OTOGL(NM_173591.3):c.3374A>G (p.K1125R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805952" "0" "30" "12" "80749570" "80749570" "subst" "0.00025884" "01943" "OTOGL_000147" "g.80749570G>A" "" "" "" "OTOGL(NM_173591.3):c.5621G>A (p.G1874D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805953" "0" "50" "12" "80750605" "80750605" "subst" "2.18137E-5" "01943" "OTOGL_000148" "g.80750605G>A" "" "" "" "OTOGL(NM_173591.3):c.5903G>A (p.C1968Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000831670" "3" "70" "12" "80747146" "80747146" "subst" "0" "01164" "OTOGL_000016" "g.80747146C>T" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "" "" "" "" "" "" "" "pathogenic (!)" "ACMG" "0000853529" "0" "30" "12" "80730314" "80730314" "subst" "6.65768E-5" "01943" "OTOGL_000150" "g.80730314C>T" "" "" "" "OTOGL(NM_173591.3):c.4695C>T (p.I1565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853530" "0" "50" "12" "80771784" "80771784" "subst" "0" "01943" "OTOGL_000153" "g.80771784T>C" "" "" "" "OTOGL(NM_173591.3):c.6991T>C (p.Y2331H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863137" "0" "50" "12" "80658930" "80658930" "subst" "4.11218E-6" "01943" "OTOGL_000149" "g.80658930G>A" "" "" "" "OTOGL(NM_173591.3):c.2137G>A (p.A713T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863138" "0" "50" "12" "80733048" "80733048" "subst" "0" "01943" "OTOGL_000151" "g.80733048A>G" "" "" "" "OTOGL(NM_173591.3):c.5023+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863139" "0" "30" "12" "80746083" "80746083" "subst" "9.74799E-5" "01943" "OTOGL_000152" "g.80746083G>A" "" "" "" "OTOGL(NM_173591.3):c.5247G>A (p.P1749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890800" "0" "50" "12" "80750673" "80750673" "subst" "0" "02327" "OTOGL_000154" "g.80750673T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913958" "0" "50" "12" "80730246" "80730246" "subst" "1.65638E-5" "02327" "OTOGL_000085" "g.80730246G>A" "" "" "" "OTOGL(NM_173591.3):c.4627G>A (p.A1543T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913959" "0" "90" "12" "80749665" "80749665" "subst" "8.21936E-6" "02327" "OTOGL_000157" "g.80749665C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913960" "0" "50" "12" "80771733" "80771733" "subst" "2.55122E-5" "02327" "OTOGL_000158" "g.80771733C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913961" "0" "50" "12" "80771734" "80771734" "subst" "0.00139458" "02327" "OTOGL_000100" "g.80771734G>A" "" "" "" "OTOGL(NM_173591.3):c.6941G>A (p.R2314Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950034" "0" "70" "12" "80750699" "80750699" "subst" "0" "02327" "OTOGL_000159" "g.80750699G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980477" "0" "30" "12" "80613585" "80613585" "subst" "0" "01804" "OTOGL_000160" "g.80613585C>G" "" "" "" "OTOGL(NM_001378609.3):c.236-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980478" "0" "50" "12" "80633124" "80633124" "subst" "0" "01804" "OTOGL_000161" "g.80633124C>T" "" "" "" "OTOGL(NM_001378609.3):c.957C>T (p.(Phe319=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980479" "0" "50" "12" "80658934" "80658934" "subst" "0" "01804" "OTOGL_000162" "g.80658934A>C" "" "" "" "OTOGL(NM_001378609.3):c.2168A>C (p.(Tyr723Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980480" "0" "50" "12" "80660261" "80660261" "subst" "1.64389E-5" "01804" "OTOGL_000163" "g.80660261A>G" "" "" "" "OTOGL(NM_001378609.3):c.2255A>G (p.(His752Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980481" "0" "50" "12" "80707305" "80707305" "subst" "0" "01804" "OTOGL_000164" "g.80707305G>A" "" "" "" "OTOGL(NM_001378609.3):c.3500G>A (p.(Cys1167Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980482" "0" "50" "12" "80707337" "80707337" "subst" "1.64245E-5" "01804" "OTOGL_000165" "g.80707337A>G" "" "" "" "OTOGL(NM_001378609.3):c.3532A>G (p.(Thr1178Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980483" "0" "50" "12" "80707338" "80707338" "subst" "0" "01804" "OTOGL_000166" "g.80707338C>T" "" "" "" "OTOGL(NM_001378609.3):c.3533C>T (p.(Thr1178Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000344" "0" "70" "12" "80613613" "80613613" "subst" "0" "01804" "OTOGL_000026" "g.80613613C>A" "" "" "" "OTOGL(NM_173591.3):c.228C>A (p.(Cys76*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000345" "0" "70" "12" "80660256" "80660257" "dup" "0" "01804" "OTOGL_000030" "g.80660256_80660257dup" "" "" "" "OTOGL(NM_173591.3):c.2223_2224dupGT (p.(Tyr742fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000346" "0" "50" "12" "80665473" "80665473" "subst" "0.000740765" "01804" "OTOGL_000066" "g.80665473C>T" "" "" "" "OTOGL(NM_173591.3):c.2537C>T (p.P846L, p.(Pro846Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020733" "0" "70" "12" "80660300" "80660300" "dup" "0" "00006" "OTOGL_000167" "g.80660300dup" "" "{PMID:Szczałuba 2018:30238967}" "" "2267_2268insT" "" "Germline" "" "" "0" "" "" "g.80266520dup" "" "VUS" "" "0001039482" "0" "70" "12" "80616025" "80616025" "subst" "0" "01804" "OTOGL_000168" "g.80616025G>A" "" "" "" "OTOGL(NM_001378609.3):c.489G>A (p.(Trp163*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039483" "0" "50" "12" "80648855" "80648855" "subst" "4.86003E-5" "01804" "OTOGL_000169" "g.80648855A>T" "" "" "" "OTOGL(NM_001378609.3):c.1477A>T (p.(Thr493Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039484" "0" "50" "12" "80658873" "80658873" "subst" "1.64483E-5" "01804" "OTOGL_000170" "g.80658873C>T" "" "" "" "OTOGL(NM_001378609.3):c.2107C>T (p.(Arg703Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039485" "0" "70" "12" "80696431" "80696431" "dup" "0" "01804" "OTOGL_000129" "g.80696431dup" "" "" "" "OTOGL(NM_001378609.3):c.3081dup (p.(Leu1028Serfs*31))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039486" "0" "30" "12" "80722827" "80722827" "subst" "4.6574E-5" "01804" "OTOGL_000171" "g.80722827G>A" "" "" "" "OTOGL(NM_001378609.3):c.4280-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039487" "0" "30" "12" "80752443" "80752443" "subst" "5.52364E-5" "01804" "OTOGL_000140" "g.80752443C>A" "" "" "" "OTOGL(NM_001378609.3):c.6122-8C>A, OTOGL(NM_173591.3):c.6095-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054415" "0" "50" "12" "80672849" "80672849" "subst" "0" "01804" "OTOGL_000172" "g.80672849G>A" "" "" "" "OTOGL(NM_001378609.3):c.2831G>A (p.(Cys944Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054416" "0" "30" "12" "80690600" "80690600" "subst" "0" "01804" "OTOGL_000173" "g.80690600A>G" "" "" "" "OTOGL(NM_001378609.3):c.2929-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054417" "0" "50" "12" "80699419" "80699419" "subst" "0" "01804" "OTOGL_000071" "g.80699419A>C" "" "" "" "OTOGL(NM_001378609.3):c.3277A>C (p.(Asn1093His)), OTOGL(NM_173591.3):c.3250A>C (p.N1084H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054418" "0" "50" "12" "80732927" "80732927" "subst" "3.28601E-5" "01804" "OTOGL_000174" "g.80732927A>C" "" "" "" "OTOGL(NM_001378609.3):c.4933A>C (p.(Met1645Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065788" "0" "70" "12" "80613592" "80613592" "subst" "0.000159032" "02325" "OTOGL_000003" "g.80613592A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001065789" "0" "50" "12" "80747254" "80747254" "subst" "0" "02325" "OTOGL_000175" "g.80747254C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes OTOGL ## Count = 202 "{{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}}" "0000129191" "00015507" "50" "2533" "0" "2533" "0" "c.2533T>C" "r.(?)" "p.(Phe845Leu)" "" "0000129192" "00015507" "50" "4833" "0" "4833" "0" "c.4833G>A" "r.(=)" "p.(=)" "" "0000248782" "00015507" "10" "5518" "0" "5518" "0" "c.5518A>G" "r.(?)" "p.(Ile1840Val)" "" "0000248786" "00015507" "10" "6220" "0" "6220" "0" "c.6220A>G" "r.(?)" "p.(Ile2074Val)" "" "0000248860" "00015507" "10" "6710" "0" "6710" "0" "c.6710A>G" "r.(?)" "p.(Asn2237Ser)" "" "0000249179" "00015507" "10" "2762" "9" "2762" "9" "c.2762+9A>G" "r.(=)" "p.(=)" "" "0000249180" "00015507" "10" "3608" "-19" "3608" "-19" "c.3608-19A>C" "r.(=)" "p.(=)" "" "0000254483" "00015507" "30" "3400" "0" "3400" "0" "c.3400A>G" "r.(?)" "p.(Ile1134Val)" "" "0000254890" "00015507" "30" "3042" "0" "3042" "0" "c.3042A>G" "r.(?)" "p.(Gln1014=)" "" "0000255055" "00015507" "30" "6189" "0" "6189" "0" "c.6189A>C" "r.(?)" "p.(Thr2063=)" "" "0000296708" "00015507" "10" "3702" "0" "3702" "0" "c.3702G>A" "r.(?)" "p.(Pro1234=)" "" "0000296709" "00015507" "10" "5067" "0" "5067" "0" "c.5067T>C" "r.(?)" "p.(Asn1689=)" "" "0000296710" "00015507" "10" "6394" "0" "6394" "0" "c.6394G>A" "r.(?)" "p.(Ala2132Thr)" "" "0000296711" "00015507" "10" "6429" "0" "6429" "0" "c.6429G>A" "r.(?)" "p.(Thr2143=)" "" "0000298771" "00015507" "90" "6095" "-1" "6095" "-1" "c.6095-1G>A" "r.spl?" "p.?" "" "0000304880" "00015507" "90" "1132" "1" "1132" "1" "c.1132+1G>C" "r.spl?" "p.?" "" "0000304881" "00015507" "30" "1132" "4" "1132" "4" "c.1132+4T>C" "r.spl?" "p.?" "" "0000304882" "00015507" "30" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Ser810Leu)" "" "0000304883" "00015507" "30" "3228" "0" "3228" "0" "c.3228T>C" "r.(?)" "p.(Thr1076=)" "" "0000304884" "00015507" "50" "4741" "0" "4741" "0" "c.4741G>A" "r.(?)" "p.(Ala1581Thr)" "" "0000304885" "00015507" "90" "5422" "0" "5422" "0" "c.5422C>T" "r.(?)" "p.(Arg1808Ter)" "" "0000304886" "00015507" "10" "5683" "0" "5683" "0" "c.5683G>A" "r.(?)" "p.(Asp1895Asn)" "" "0000304887" "00015507" "30" "5790" "0" "5790" "0" "c.5790G>A" "r.(?)" "p.(Thr1930=)" "" "0000304888" "00015507" "90" "6095" "-1" "6095" "-1" "c.6095-1G>A" "r.spl?" "p.?" "" "0000323001" "00015507" "30" "6711" "0" "6711" "0" "c.6711T>C" "r.(?)" "p.(Asn2237=)" "" "0000338788" "00015507" "10" "2491" "18" "2491" "18" "c.2491+18G>A" "r.(=)" "p.(=)" "" "0000338789" "00015507" "10" "2762" "9" "2762" "9" "c.2762+9A>G" "r.(=)" "p.(=)" "" "0000338790" "00015507" "10" "3424" "-20" "3424" "-20" "c.3424-20T>A" "r.(=)" "p.(=)" "" "0000338791" "00015507" "10" "3608" "-19" "3608" "-19" "c.3608-19A>C" "r.(=)" "p.(=)" "" "0000340696" "00015507" "10" "5067" "0" "5067" "0" "c.5067T>C" "r.(?)" "p.(Asn1689=)" "" "0000340892" "00015507" "10" "3702" "0" "3702" "0" "c.3702G>A" "r.(?)" "p.(Pro1234=)" "" "0000340996" "00015507" "10" "6429" "0" "6429" "0" "c.6429G>A" "r.(?)" "p.(Thr2143=)" "" "0000340999" "00015507" "10" "7020" "0" "7020" "0" "c.7020G>A" "r.(?)" "p.(Thr2340=)" "" "0000341267" "00015507" "10" "6394" "0" "6394" "0" "c.6394G>A" "r.(?)" "p.(Ala2132Thr)" "" "0000342043" "00015507" "90" "4987" "0" "4987" "0" "c.4987C>T" "r.(?)" "p.(Arg1663Ter)" "" "0000342117" "00015507" "90" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Ter)" "" "0000342181" "00015507" "10" "5957" "0" "5957" "0" "c.5957G>A" "r.(?)" "p.(Arg1986Gln)" "" "0000342705" "00015507" "90" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351Ter)" "" "0000343656" "00015507" "10" "6710" "0" "6710" "0" "c.6710A>G" "r.(?)" "p.(Asn2237Ser)" "" "0000343926" "00015507" "50" "4504" "0" "4504" "0" "c.4504G>T" "r.(?)" "p.(Asp1502Tyr)" "" "0000344455" "00015507" "90" "228" "0" "228" "0" "c.228C>A" "r.(?)" "p.(Cys76Ter)" "" "0000344502" "00015507" "10" "3306" "0" "3306" "0" "c.3306G>T" "r.(?)" "p.(Gln1102His)" "" "0000344652" "00015507" "90" "6271" "0" "6271" "0" "c.6271C>T" "r.(?)" "p.(Gln2091Ter)" "" "0000346615" "00015507" "10" "5518" "0" "5518" "0" "c.5518A>G" "r.(?)" "p.(Ile1840Val)" "" "0000346629" "00015507" "10" "6220" "0" "6220" "0" "c.6220A>G" "r.(?)" "p.(Ile2074Val)" "" "0000346958" "00015507" "10" "5485" "0" "5485" "0" "c.5485C>G" "r.(?)" "p.(Leu1829Val)" "" "0000346991" "00015507" "10" "6375" "0" "6375" "0" "c.6375G>T" "r.(?)" "p.(Leu2125Phe)" "" "0000349180" "00015507" "50" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Ser810Leu)" "" "0000349895" "00015507" "50" "3626" "0" "3626" "0" "c.3626A>G" "r.(?)" "p.(Tyr1209Cys)" "" "0000350189" "00015507" "90" "2223" "0" "2224" "0" "c.2223_2224dup" "r.(?)" "p.(Tyr742CysfsTer80)" "" "0000350772" "00015507" "70" "5238" "5" "5238" "5" "c.5238+5G>A" "r.spl?" "p.?" "" "0000470386" "00015507" "30" "6241" "-56" "6241" "-43" "c.6241-56_6241-43dup" "r.(=)" "p.(=)" "" "0000470387" "00015507" "30" "6709" "-112" "6709" "-112" "c.6709-112G>A" "r.(=)" "p.(=)" "" "0000549181" "00015507" "30" "66" "0" "66" "0" "c.66A>G" "r.(?)" "p.(Ala22=)" "" "0000549182" "00015507" "30" "69" "0" "69" "0" "c.69G>A" "r.(?)" "p.(Ser23=)" "" "0000549183" "00015507" "50" "98" "0" "98" "0" "c.98G>T" "r.(?)" "p.(Gly33Val)" "" "0000549184" "00015507" "30" "174" "0" "174" "0" "c.174T>C" "r.(?)" "p.(His58=)" "" "0000549185" "00015507" "10" "209" "-5" "209" "-5" "c.209-5dup" "r.spl?" "p.?" "" "0000549186" "00015507" "90" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Gln101Ter)" "" "0000549187" "00015507" "30" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Gly301Glu)" "" "0000549190" "00015507" "30" "1133" "-7" "1133" "-7" "c.1133-7G>C" "r.(=)" "p.(=)" "" "0000549191" "00015507" "50" "1171" "0" "1171" "0" "c.1171A>T" "r.(?)" "p.(Ile391Phe)" "" "0000549192" "00015507" "30" "1171" "0" "1171" "0" "c.1171A>T" "r.(?)" "p.(Ile391Phe)" "" "0000549193" "00015507" "30" "1368" "-3" "1368" "-3" "c.1368-3T>C" "r.spl?" "p.?" "" "0000549194" "00015507" "30" "1414" "10" "1414" "10" "c.1414+10T>A" "r.(=)" "p.(=)" "" "0000549195" "00015507" "90" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Gln520Ter)" "" "0000549196" "00015507" "30" "1561" "-4" "1561" "-4" "c.1561-4G>A" "r.spl?" "p.?" "" "0000549197" "00015507" "50" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Pro655Ser)" "" "0000549198" "00015507" "50" "2318" "0" "2318" "0" "c.2318C>T" "r.(?)" "p.(Pro773Leu)" "" "0000549200" "00015507" "70" "2364" "-2" "2364" "-2" "c.2364-2A>G" "r.spl?" "p.?" "" "0000549201" "00015507" "30" "2490" "0" "2490" "0" "c.2490T>C" "r.(?)" "p.(Ala830=)" "" "0000549202" "00015507" "10" "2523" "0" "2523" "0" "c.2523C>T" "r.(?)" "p.(Phe841=)" "" "0000549203" "00015507" "50" "2537" "0" "2537" "0" "c.2537C>T" "r.(?)" "p.(Pro846Leu)" "" "0000549204" "00015507" "90" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Arg925Ter)" "" "0000549205" "00015507" "50" "2909" "0" "2909" "0" "c.2909A>G" "r.(?)" "p.(Asp970Gly)" "" "0000549208" "00015507" "50" "3164" "0" "3165" "0" "c.3164_3165insAAA" "r.(?)" "p.(Ile1055_Lys1056insAsn)" "" "0000549209" "00015507" "50" "3250" "0" "3250" "0" "c.3250A>C" "r.(?)" "p.(Asn1084His)" "" "0000549210" "00015507" "30" "3329" "0" "3329" "0" "c.3329T>C" "r.(?)" "p.(Ile1110Thr)" "" "0000549211" "00015507" "30" "3366" "0" "3366" "0" "c.3366T>C" "r.(?)" "p.(Tyr1122=)" "" "0000549214" "00015507" "50" "3530" "0" "3530" "0" "c.3530A>G" "r.(?)" "p.(Lys1177Arg)" "" "0000549215" "00015507" "30" "3707" "0" "3707" "0" "c.3707G>A" "r.(?)" "p.(Ser1236Asn)" "" "0000549216" "00015507" "10" "3862" "0" "3862" "0" "c.3862T>A" "r.(?)" "p.(Trp1288Arg)" "" "0000549217" "00015507" "50" "3892" "0" "3892" "0" "c.3892G>A" "r.(?)" "p.(Ala1298Thr)" "" "0000549218" "00015507" "50" "4109" "0" "4109" "0" "c.4109G>A" "r.(?)" "p.(Cys1370Tyr)" "" "0000549219" "00015507" "30" "4253" "-3" "4253" "-3" "c.4253-3T>A" "r.spl?" "p.?" "" "0000549220" "00015507" "90" "4326" "0" "4326" "0" "c.4326G>A" "r.(?)" "p.(Trp1442Ter)" "" "0000549221" "00015507" "30" "4419" "0" "4419" "0" "c.4419T>C" "r.(?)" "p.(Tyr1473=)" "" "0000549222" "00015507" "30" "4578" "0" "4578" "0" "c.4578G>A" "r.(?)" "p.(Arg1526=)" "" "0000549223" "00015507" "30" "4627" "0" "4627" "0" "c.4627G>A" "r.(?)" "p.(Ala1543Thr)" "" "0000549224" "00015507" "50" "4696" "0" "4696" "0" "c.4696G>A" "r.(?)" "p.(Glu1566Lys)" "" "0000549226" "00015507" "70" "5024" "-1" "5024" "-1" "c.5024-1G>T" "r.spl?" "p.?" "" "0000549227" "00015507" "50" "5042" "0" "5042" "0" "c.5042C>T" "r.(?)" "p.(Pro1681Leu)" "" "0000549228" "00015507" "30" "5685" "0" "5685" "0" "c.5685C>G" "r.(?)" "p.(Asp1895Glu)" "" "0000549229" "00015507" "30" "5993" "-7" "5993" "-7" "c.5993-7A>G" "r.(=)" "p.(=)" "" "0000549230" "00015507" "10" "6129" "0" "6129" "0" "c.6129C>T" "r.(?)" "p.(Leu2043=)" "" "0000549231" "00015507" "30" "6256" "0" "6256" "0" "c.6256A>G" "r.(?)" "p.(Ile2086Val)" "" "0000549232" "00015507" "30" "6421" "0" "6421" "0" "c.6421A>G" "r.(?)" "p.(Asn2141Asp)" "" "0000549233" "00015507" "90" "6467" "0" "6467" "0" "c.6467C>A" "r.(?)" "p.(Ser2156Ter)" "" "0000549234" "00015507" "50" "6494" "0" "6494" "0" "c.6494A>G" "r.(?)" "p.(Tyr2165Cys)" "" "0000549235" "00015507" "30" "6497" "0" "6497" "0" "c.6497C>A" "r.(?)" "p.(Thr2166Asn)" "" "0000549236" "00015507" "30" "6599" "0" "6599" "0" "c.6599C>T" "r.(?)" "p.(Thr2200Ile)" "" "0000549238" "00015507" "50" "6941" "0" "6941" "0" "c.6941G>A" "r.(?)" "p.(Arg2314Gln)" "" "0000614385" "00015507" "90" "919" "-1" "919" "-1" "c.919-1G>A" "r.spl?" "p.?" "" "0000614386" "00015507" "30" "1086" "0" "1086" "0" "c.1086T>C" "r.(?)" "p.(His362=)" "" "0000614387" "00015507" "50" "2362" "0" "2362" "0" "c.2362A>G" "r.(?)" "p.(Ile788Val)" "" "0000614388" "00015507" "50" "2588" "0" "2588" "0" "c.2588A>C" "r.(?)" "p.(Asn863Thr)" "" "0000614389" "00015507" "30" "4833" "9" "4833" "9" "c.4833+9A>G" "r.(=)" "p.(=)" "" "0000614390" "00015507" "30" "5280" "0" "5280" "0" "c.5280T>C" "r.(?)" "p.(Tyr1760=)" "" "0000614391" "00015507" "50" "5522" "0" "5522" "0" "c.5522T>C" "r.(?)" "p.(Leu1841Pro)" "" "0000614392" "00015507" "30" "6586" "0" "6586" "0" "c.6586G>T" "r.(?)" "p.(Ala2196Ser)" "" "0000622976" "00015507" "30" "2629" "0" "2629" "0" "c.2629A>T" "r.(?)" "p.(Ile877Leu)" "" "0000622977" "00015507" "50" "5380" "3" "5380" "6" "c.5380+3_5380+6del" "r.spl?" "p.?" "" "0000622978" "00015507" "30" "6188" "0" "6188" "0" "c.6188C>T" "r.(?)" "p.(Thr2063Ile)" "" "0000622979" "00015507" "50" "6664" "0" "6664" "0" "c.6664T>A" "r.(?)" "p.(Tyr2222Asn)" "" "0000641819" "00015507" "99" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183*)" "0" "0000641820" "00015507" "99" "1430" "0" "1430" "0" "c.1430del" "r.(?)" "p.(Val477Glufs*25)" "0" "0000641821" "00015507" "99" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Gln520*)" "0" "0000641822" "00015507" "99" "1849" "0" "1849" "0" "c.1849del" "r.(?)" "p.(Arg617Glyfs*10)" "0" "0000641823" "00015507" "77" "1863" "-1" "1863" "-1" "c.1863-1G>T" "r.spl?" "p.?" "0" "0000641824" "00015507" "77" "2763" "-189" "2763" "-189" "c.2763-189G>T" "r.spl?" "p.?" "0" "0000641825" "00015507" "99" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Arg925*)" "0" "0000641826" "00015507" "99" "4564" "0" "4564" "0" "c.4564G>T" "r.(?)" "p.(Glu1522*)" "0" "0000641827" "00015507" "99" "5227" "0" "5227" "0" "c.5227T>C" "r.(?)" "p.(Cys1743Arg)" "0" "0000641828" "00015507" "99" "5238" "5" "5238" "5" "c.5238+5G>A" "r.spl?" "p.?" "0" "0000641829" "00015507" "77" "5422" "0" "5422" "0" "c.5422C>T" "r.(?)" "p.(Arg1808*)" "0" "0000641830" "00015507" "99" "5992" "5" "5992" "5" "c.5992+5G>A" "r.spl?" "p.?" "0" "0000641831" "00015507" "99" "6601" "0" "6602" "0" "c.6601_6602del" "r.(?)" "p.(Trp2201Alafs*8)" "0" "0000648655" "00015507" "30" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Pro655Ser)" "" "0000648656" "00015507" "30" "2523" "0" "2523" "0" "c.2523C>T" "r.(=)" "p.(=)" "" "0000648657" "00015507" "10" "3098" "0" "3098" "0" "c.3098A>G" "r.(?)" "p.(Tyr1033Cys)" "" "0000648658" "00015507" "10" "5033" "0" "5033" "0" "c.5033A>G" "r.(?)" "p.(Asn1678Ser)" "" "0000657204" "00015507" "50" "692" "0" "692" "0" "c.692G>C" "r.(?)" "p.(Gly231Ala)" "" "0000657205" "00015507" "90" "2833" "0" "2833" "0" "c.2833C>T" "r.(?)" "p.(Arg945Ter)" "" "0000669197" "00015507" "30" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Pro655Ser)" "" "0000669198" "00015507" "10" "5033" "0" "5033" "0" "c.5033A>G" "r.(?)" "p.(Asn1678Ser)" "" "0000679655" "00015507" "90" "814" "0" "815" "0" "c.814_815del" "r.(?)" "p.(Met272ValfsTer4)" "" "0000679656" "00015507" "50" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Trp)" "" "0000679657" "00015507" "50" "5669" "0" "5669" "0" "c.5669T>C" "r.(?)" "p.(Ile1890Thr)" "" "0000679658" "00015507" "50" "5992" "5" "5992" "5" "c.5992+5G>A" "r.spl?" "p.?" "" "0000691428" "00015507" "50" "4801" "0" "4801" "0" "c.4801C>T" "r.(?)" "p.(His1601Tyr)" "" "0000691429" "00015507" "30" "5023" "10" "5023" "10" "c.5023+10G>A" "r.(=)" "p.(=)" "" "0000691430" "00015507" "90" "5422" "0" "5422" "0" "c.5422C>T" "r.(?)" "p.(Arg1808Ter)" "" "0000698979" "00015507" "50" "3515" "0" "3515" "0" "c.3515C>G" "r.(?)" "p.(Ala1172Gly)" "" "0000698980" "00015507" "50" "3527" "0" "3527" "0" "c.3527A>G" "r.(?)" "p.(Tyr1176Cys)" "" "0000710711" "00015507" "90" "3054" "0" "3054" "0" "c.3054dup" "r.(?)" "p.(Leu1019SerfsTer31)" "" "0000724243" "00015507" "30" "1796" "0" "1796" "0" "c.1796G>A" "r.(?)" "p.(Ser599Asn)" "" "0000724244" "00015507" "90" "1913" "0" "1913" "0" "c.1913G>A" "r.(?)" "p.(Trp638*)" "" "0000724245" "00015507" "30" "2276" "0" "2276" "0" "c.2276C>T" "r.(?)" "p.(Pro759Leu)" "" "0000724246" "00015507" "50" "2277" "0" "2277" "0" "c.2277G>A" "r.(?)" "p.(Pro759=)" "" "0000724247" "00015507" "90" "2833" "0" "2833" "0" "c.2833C>T" "r.(?)" "p.(Arg945Ter)" "" "0000724248" "00015507" "50" "3461" "0" "3461" "0" "c.3461A>G" "r.(?)" "p.(Asp1154Gly)" "" "0000724249" "00015507" "50" "3622" "0" "3622" "0" "c.3622C>T" "r.(?)" "p.(Pro1208Ser)" "" "0000724250" "00015507" "10" "4172" "10" "4172" "10" "c.4172+10G>A" "r.(=)" "p.(=)" "" "0000724251" "00015507" "50" "5192" "0" "5192" "0" "c.5192G>A" "r.(?)" "p.(Cys1731Tyr)" "" "0000724252" "00015507" "50" "5675" "0" "5675" "0" "c.5675T>C" "r.(?)" "p.(Ile1892Thr)" "" "0000724253" "00015507" "90" "5872" "0" "5872" "0" "c.5872C>T" "r.(?)" "p.(Gln1958*)" "" "0000724254" "00015507" "30" "6095" "-8" "6095" "-8" "c.6095-8C>A" "r.(=)" "p.(=)" "" "0000731124" "00015507" "50" "2318" "0" "2318" "0" "c.2318C>T" "r.(?)" "p.(Pro773Leu)" "" "0000731130" "00015507" "90" "2833" "0" "2833" "0" "c.2833C>T" "r.(?)" "p.(Arg945*)" "" "0000731350" "00015507" "90" "825" "0" "4834" "-43" "c.825_4834-43delinsCATATTTAACATA" "r.?" "p.?" "" "0000731351" "00015507" "90" "4173" "-677" "4252" "113" "c.4173-677_4252+113del" "r.(?)" "p.(Val1392Tyrfs*15)" "" "0000805948" "00015507" "90" "790" "1" "790" "1" "c.790+1G>A" "r.spl?" "p.?" "" "0000805949" "00015507" "90" "1541" "0" "1541" "0" "c.1541del" "r.(?)" "p.(Gln514Argfs*17)" "" "0000805950" "00015507" "50" "3157" "0" "3157" "0" "c.3157A>T" "r.(?)" "p.(Ile1053Phe)" "" "0000805951" "00015507" "50" "3374" "0" "3374" "0" "c.3374A>G" "r.(?)" "p.(Lys1125Arg)" "" "0000805952" "00015507" "30" "5621" "0" "5621" "0" "c.5621G>A" "r.(?)" "p.(Gly1874Asp)" "" "0000805953" "00015507" "50" "5903" "0" "5903" "0" "c.5903G>A" "r.(?)" "p.(Cys1968Tyr)" "" "0000831670" "00015507" "70" "5422" "0" "5422" "0" "c.5422C>T" "r.(?)" "p.(Arg1808*)" "" "0000853529" "00015507" "30" "4695" "0" "4695" "0" "c.4695C>T" "r.(?)" "p.(=)" "" "0000853530" "00015507" "50" "6991" "0" "6991" "0" "c.6991T>C" "r.(?)" "p.(Tyr2331His)" "" "0000863137" "00015507" "50" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Ala713Thr)" "" "0000863138" "00015507" "50" "5023" "4" "5023" "4" "c.5023+4A>G" "r.spl?" "p.?" "" "0000863139" "00015507" "30" "5247" "0" "5247" "0" "c.5247G>A" "r.(?)" "p.(=)" "" "0000890800" "00015507" "50" "5971" "0" "5971" "0" "c.5971T>G" "r.(?)" "p.(Cys1991Gly)" "" "0000913958" "00015507" "50" "4627" "0" "4627" "0" "c.4627G>A" "r.(?)" "p.(Ala1543Thr)" "" "0000913959" "00015507" "90" "5716" "0" "5716" "0" "c.5716C>T" "r.(?)" "p.(Arg1906*)" "" "0000913960" "00015507" "50" "6940" "0" "6940" "0" "c.6940C>T" "r.(?)" "p.(Arg2314*)" "" "0000913961" "00015507" "50" "6941" "0" "6941" "0" "c.6941G>A" "r.(?)" "p.(Arg2314Gln)" "" "0000950034" "00015507" "70" "5992" "5" "5992" "5" "c.5992+5G>C" "r.spl?" "p.?" "" "0000980477" "00015507" "30" "209" "-9" "209" "-9" "c.209-9C>G" "r.(=)" "p.(=)" "" "0000980478" "00015507" "50" "930" "0" "930" "0" "c.930C>T" "r.(?)" "p.(=)" "" "0000980479" "00015507" "50" "2141" "0" "2141" "0" "c.2141A>C" "r.(?)" "p.(Tyr714Ser)" "" "0000980480" "00015507" "50" "2228" "0" "2228" "0" "c.2228A>G" "r.(?)" "p.(His743Arg)" "" "0000980481" "00015507" "50" "3473" "0" "3473" "0" "c.3473G>A" "r.(?)" "p.(Cys1158Tyr)" "" "0000980482" "00015507" "50" "3505" "0" "3505" "0" "c.3505A>G" "r.(?)" "p.(Thr1169Ala)" "" "0000980483" "00015507" "50" "3506" "0" "3506" "0" "c.3506C>T" "r.(?)" "p.(Thr1169Ile)" "" "0001000344" "00015507" "70" "228" "0" "228" "0" "c.228C>A" "r.(?)" "p.(Cys76Ter)" "" "0001000345" "00015507" "70" "2223" "0" "2224" "0" "c.2223_2224dup" "r.(?)" "p.(Tyr742CysfsTer80)" "" "0001000346" "00015507" "50" "2537" "0" "2537" "0" "c.2537C>T" "r.(?)" "p.(Pro846Leu)" "" "0001020733" "00015507" "70" "2267" "0" "2267" "0" "c.2267dup" "r.(2267dup)" "p.(Ser757Leufs*8)" "" "0001039482" "00015507" "70" "462" "0" "462" "0" "c.462G>A" "r.(?)" "p.(Trp154*)" "" "0001039483" "00015507" "50" "1450" "0" "1450" "0" "c.1450A>T" "r.(?)" "p.(Thr484Ser)" "" "0001039484" "00015507" "50" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Cys)" "" "0001039485" "00015507" "70" "3054" "0" "3054" "0" "c.3054dup" "r.(?)" "p.(Leu1019Serfs*31)" "" "0001039486" "00015507" "30" "4253" "-4" "4253" "-4" "c.4253-4G>A" "r.spl?" "p.?" "" "0001039487" "00015507" "30" "6095" "-8" "6095" "-8" "c.6095-8C>A" "r.(=)" "p.(=)" "" "0001054415" "00015507" "50" "2804" "0" "2804" "0" "c.2804G>A" "r.(?)" "p.(Cys935Tyr)" "" "0001054416" "00015507" "30" "2902" "-7" "2902" "-7" "c.2902-7A>G" "r.(=)" "p.(=)" "" "0001054417" "00015507" "50" "3250" "0" "3250" "0" "c.3250A>C" "r.(?)" "p.(Asn1084His)" "" "0001054418" "00015507" "50" "4906" "0" "4906" "0" "c.4906A>C" "r.(?)" "p.(Met1636Leu)" "" "0001065788" "00015507" "70" "209" "-2" "209" "-2" "c.209-2A>G" "r.spl?" "p.?" "" "0001065789" "00015507" "50" "5530" "0" "5530" "0" "c.5530C>A" "r.(?)" "p.(Pro1844Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000080238" "0000129191" "0000080238" "0000129192" "0000229236" "0000470386" "0000229236" "0000470387" "0000286077" "0000641819" "0000286078" "0000641820" "0000286079" "0000641821" "0000286080" "0000641822" "0000286081" "0000641823" "0000286082" "0000641824" "0000286083" "0000641825" "0000286084" "0000641826" "0000286085" "0000641827" "0000286086" "0000641828" "0000286087" "0000641829" "0000286088" "0000641830" "0000286089" "0000641831" "0000291966" "0000648655" "0000291967" "0000648656" "0000291968" "0000648657" "0000291969" "0000648658" "0000305509" "0000669197" "0000305510" "0000669198" "0000327079" "0000710711" "0000333473" "0000731124" "0000333473" "0000731130" "0000333635" "0000731350" "0000333635" "0000731351" "0000399311" "0000831670" "0000461165" "0001020733"