### 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" "00000" "2026-01-20 18:57:21" ## 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 = 30 "{{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" "" "" "" "1" "" "02393" "" "" "M" "yes" "Israel" "" "0" "" "" "" "" "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" "" "" "" "1" "" "00004" "{PMID:Schraders 2012:23122587}" "" "" "" "" "" "0" "" "" "" "" "00284894" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00284895" "" "" "" "1" "" "00004" "{PMID:Schraders 2012:23122587}" "" "" "" "" "" "0" "" "" "" "" "00284896" "" "" "" "1" "" "00004" "{PMID:Schraders 2012:23122587}" "" "" "" "" "" "0" "" "" "" "" "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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00056440" "01666" "00154485" "03798" "00275936" "05103" "00276129" "00198" "00284892" "05103" "00284893" "00198" "00284894" "05103" "00284895" "00198" "00284896" "00198" "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" ## 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 = 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/Lung}}" "{{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" "" "0000217119" "00198" "00284893" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing impairment, non-syndromic" "" "0000217120" "00198" "00284895" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing impairment, non-syndromic" "" "0000217121" "00198" "00284896" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing impairment, non-syndromic" "" "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" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{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" "" "" "?" "DNA" "" "" "0000286046" "00284896" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "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" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000056401" "MYOD1" "0000056401" "OTOG" "0000277089" "OTOG" "0000277275" "OTOG" "0000286042" "OTOG" "0000286043" "OTOG" "0000286044" "OTOG" "0000286045" "OTOG" "0000286046" "OTOG" "0000286047" "OTOG" "0000286048" "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 = 243 "{{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" "" "" "" "" "not in 220 control chromosomes" "Germline" "yes" "" "0" "" "" "g.17634218C>T" "" "pathogenic" "" "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" "1" "99" "11" "17632319" "17632319" "del" "0" "00004" "OTOG_000113" "g.17632319del" "" "{DB:DVD}, {PMID:Schraders 2012:23122587}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.17610772del" "" "pathogenic" "" "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" "1" "99" "11" "17634185" "17634185" "subst" "0" "00004" "OTOG_000115" "g.17634185C>T" "" "{DB:DVD}, {PMID:Schraders 2012:23122587}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.17612638C>T" "" "pathogenic" "" "0000641788" "1" "99" "11" "17635243" "17635243" "subst" "4.84483E-5" "00004" "OTOG_000034" "g.17635243C>T" "" "{DB:DVD}, {PMID:Schraders 2012:23122587}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.17613696C>T" "" "pathogenic" "" "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" "chr11_008642" "g.17614877A>G" "" "" "" "OTOG(NM_001292063.2):c.3141+3A>G" "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 OTOG ## Count = 275 "{{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.(Arg2485*)" "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" "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" "00024096" "99" "5508" "0" "5508" "0" "c.5508del" "r.(?)" "p.(Ala1838Profs*31)" "35" "0000641786" "00024096" "77" "6320" "0" "6323" "0" "c.6320_6323dup" "r.(?)" "p.(Cys2108*)" "36" "0000641787" "00024096" "99" "6347" "0" "6347" "0" "c.6347C>T" "r.(?)" "p.(Pro2116Leu)" "37" "0000641788" "00024096" "99" "6559" "0" "6559" "0" "c.6559C>T" "r.(?)" "p.(Arg2187*)" "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.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000056401" "0000086649" "0000155345" "0000355059" "0000277089" "0000631820" "0000277089" "0000667178" "0000277275" "0000632042" "0000286042" "0000641784" "0000286043" "0000641785" "0000286044" "0000641786" "0000286045" "0000641787" "0000286046" "0000641788" "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"