### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COCH) # 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}}" "COCH" "coagulation factor C homolog, cochlin (Limulus polyphemus)" "14" "q11.2-q13" "unknown" "NG_008211.2" "UD_132118430098" "" "http://www.LOVD.nl/COCH" "" "1" "2180" "1690" "603196" "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/COCH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-02-18 05:28:39" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005445" "COCH" "transcript variant 2" "002" "NM_004086.2" "" "NP_004077.1" "" "" "" "-80" "2478" "1653" "31343741" "31359822" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "02355" "DFNA9" "deafness, autosomal dominant, type 9 (DFNA-9)" "AD" "601369" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "06244" "DFNB110" "?Deafness, autosomal recessive 110" "AR" "618094" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COCH" "02355" "COCH" "06244" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00043836" "" "" "" "1" "" "01342" "" "DFNA9" "M" "" "Korea, South (Republic)" "" "0" "52" "" "Asian" "" "00043837" "" "" "" "1" "" "01342" "" "DFNA9" "M" "" "Korea, South (Republic)" "" "0" "48" "" "Asian" "" "00059030" "" "" "" "3" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00100385" "" "" "" "1" "" "01909" "" "" "-" "-" "Netherlands" "" "0" "" "" "" "" "00285036" "" "" "" "5" "" "00004" "{PMID:Choi 2013:23990876}" "family, 5 affected" "" "" "Korea" "" "0" "" "" "" "SH20-47" "00285037" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285038" "" "" "" "1" "" "00004" "{PMID:Bischoff 2005:16151338}, {PMID:Robertson 2006:16481359}, {PMID:Fransen 2001:11332404}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}, {PMID:Fransen 1999:10400989}, {PMID:de Kok 1999:9931344}, {PMID:Hildebrand 2009:19161137}" "" "" "" "" "" "0" "" "" "" "" "00285039" "" "" "" "1" "" "00004" "{PMID:Manolis 1996:8817345}, {PMID:Robertson 1998:9806553}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00285040" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00285041" "" "" "" "1" "" "00004" "{PMID:Collin 2006:16835921}" "" "" "" "" "" "0" "" "" "" "" "00285042" "" "" "" "1" "" "00004" "{PMID:Yang 2013:23767834}" "" "" "" "" "" "0" "" "" "" "" "00285043" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Robertson 1998:9806553}, {PMID:Tsukada 2015:25780252}" "" "" "" "" "" "0" "" "" "" "" "00285044" "" "" "" "1" "" "00004" "{PMID:Robertson 1998:9806553}, {PMID:Duzkale 2013:24033266}, {PMID:Yao 2010:20228067}" "" "" "" "" "" "0" "" "" "" "" "00285045" "" "" "" "1" "" "00004" "{PMID:Dodson 2012:22534022}" "" "" "" "" "" "0" "" "" "" "" "00285046" "" "" "" "1" "" "00004" "{PMID:Nagy 2004:14729849}" "" "" "" "" "" "0" "" "" "" "" "00285047" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Grabski 2003:12928864}, {PMID:Kamarinos 2001:11295836}" "" "" "" "" "" "0" "" "" "" "" "00285048" "" "" "" "1" "" "00004" "{PMID:Pauw 2007:17561763}" "" "" "" "" "" "0" "" "" "" "" "00285049" "" "" "" "3" "" "00004" "{PMID:Choi 2013:23990876}" "family, 3 affected" "" "" "Korea" "" "0" "" "" "" "SB50-94" "00285050" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Robertson 1998:9806553}" "" "" "" "" "" "0" "" "" "" "" "00285051" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Usami 2003:14512963}" "" "" "" "" "" "0" "" "" "" "" "00285052" "" "" "" "1" "" "00004" "{PMID:Hildebrand 2010:21046548}" "" "" "" "" "" "0" "" "" "" "" "00285053" "" "" "" "1" "" "00004" "{PMID:Gao 2013:22931125}" "" "" "" "" "" "0" "" "" "" "" "00285054" "" "" "" "1" "" "00004" "{PMID:Tsukada 2015:25780252}" "" "" "" "" "" "0" "" "" "" "" "00285055" "" "" "" "1" "" "00004" "{PMID:Gallant 2013:23374487}" "" "" "" "" "" "0" "" "" "" "" "00285056" "" "" "" "1" "" "00004" "{PMID:Ji 2014:25342930}" "" "" "" "" "" "0" "" "" "" "" "00285057" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00285058" "" "" "" "1" "" "00004" "{PMID:Ji 2014:25342930}" "" "" "" "" "" "0" "" "" "" "" "00285059" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Yuan 2008:18312449}" "" "" "" "" "" "0" "" "" "" "" "00285060" "" "" "" "1" "" "00004" "{PMID:Cho 2012:22610276}" "" "" "" "" "" "0" "" "" "" "" "00285061" "" "" "" "1" "" "00004" "{PMID:Tsukada 2015:25780252}" "" "" "" "" "" "0" "" "" "" "" "00285062" "" "" "" "1" "" "00004" "{PMID:Street 2005:16261627}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00285063" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Yuan 2008:18312449}" "" "" "" "" "" "0" "" "" "" "" "00291029" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00408949" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "F" "" "France" "" "0" "" "" "French" "XIV" "00433194" "" "" "" "3" "" "00006" "{PMID:Danial-Farran 2021:32939038}" "3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Israel" "" "0" "" "" "Arab;Christian" "family" "00433195" "" "" "" "2" "" "00006" "{PMID:Janssens de Varebeke 2021:29449721}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "" "Belgium" "" "0" "" "" "Morocco" "FamAI" "00441510" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "B00APG2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 34 "{{individualid}}" "{{diseaseid}}" "00043836" "00350" "00043837" "00350" "00059030" "02355" "00100385" "02355" "00285036" "05086" "00285038" "05103" "00285039" "05103" "00285041" "05103" "00285042" "05103" "00285043" "05103" "00285045" "05086" "00285046" "05103" "00285047" "05103" "00285048" "05103" "00285049" "05086" "00285050" "05103" "00285051" "05103" "00285052" "05103" "00285053" "05086" "00285054" "05086" "00285055" "05103" "00285056" "05103" "00285057" "05103" "00285058" "05103" "00285059" "05103" "00285060" "05103" "00285061" "05086" "00285062" "05086" "00285063" "05103" "00291029" "00198" "00408949" "04214" "00433194" "05086" "00433195" "05086" "00441510" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00350, 02355, 04214, 05086, 05103, 06244 ## Count = 33 "{{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}}" "0000034055" "00350" "00043837" "01342" "Familial, autosomal dominant" "48y" "DFNA9" "48y" "" "" "" "" "" "" "" "" "" "" "0000034056" "00350" "00043836" "01342" "Familial, autosomal dominant" "52y" "DFNA9" "52y" "" "" "" "" "" "" "" "" "" "" "0000045619" "02355" "00059030" "01542" "Familial, autosomal dominant" "" "Late onset (18-30y), progressive high-tone hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000078608" "02355" "00100385" "01909" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000218245" "05086" "00285036" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hearing loss, sensorineural, non-syndromic" "" "0000218246" "05086" "00285045" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, unilateral" "" "0000218247" "05086" "00285049" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hearing loss, sensorineural, non-syndromic" "" "0000218248" "05086" "00285053" "00008" "Familial, autosomal dominant" "" "progressive sensorineural" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218249" "05086" "00285054" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, progressive" "" "0000218250" "05086" "00285061" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, progressive" "" "0000218251" "05086" "00285062" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, progressive" "" "0000218577" "05103" "00285038" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218578" "05103" "00285039" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218579" "05103" "00285041" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218580" "05103" "00285042" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic" "" "0000218581" "05103" "00285043" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218582" "05103" "00285046" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218583" "05103" "00285047" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218584" "05103" "00285048" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218585" "05103" "00285050" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218586" "05103" "00285051" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218587" "05103" "00285052" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218588" "05103" "00285055" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218589" "05103" "00285056" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218590" "05103" "00285057" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218591" "05103" "00285058" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218592" "05103" "00285059" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218593" "05103" "00285060" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000218594" "05103" "00285063" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "deafness, autosomal dominant, non-syndromic" "" "0000301067" "04214" "00408949" "00000" "Familial, autosomal dominant" "68y" "balance disorders, cochlear implantation, severe to profound auditory neuropathy hearing loss" "50y" "" "Sensori?motor Demyelinating" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000323726" "05086" "00433194" "00006" "Familial, autosomal recessive" "" "see paper; ..., high-tone hearing loss, ranging from mild-moderate in low frequencies to severe in high frequencies" "" "" "" "" "" "" "" "" "DFNB110" "hearing loss" "" "0000323727" "05086" "00433195" "00006" "Familial, autosomal recessive" "" "see paper; ..., prelingual congenital moderate sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNB110" "hearing loss" "" "0000330948" "05086" "00441510" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000044081" "00043836" "1" "01342" "01342" "2015-06-25 14:06:37" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000044084" "00043837" "1" "01342" "01342" "2015-06-25 14:14:26" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000058996" "00059030" "1" "01542" "01542" "2016-02-16 01:22:45" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000100789" "00100385" "1" "01909" "01909" "2017-02-17 14:12:35" "" "" "SEQ" "DNA" "" "" "0000286186" "00285036" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286187" "00285037" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286188" "00285038" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286189" "00285039" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286190" "00285040" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286191" "00285041" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286192" "00285042" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286193" "00285043" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286194" "00285044" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286195" "00285045" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286196" "00285046" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286197" "00285047" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286198" "00285048" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286199" "00285049" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286200" "00285050" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286201" "00285051" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286202" "00285052" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286203" "00285053" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286204" "00285054" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286205" "00285055" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286206" "00285056" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286207" "00285057" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286208" "00285058" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286209" "00285059" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286210" "00285060" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286211" "00285061" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286212" "00285062" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286213" "00285063" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000292197" "00291029" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000410214" "00408949" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000434648" "00433194" "1" "00006" "00006" "2023-03-03 12:20:07" "00006" "2023-03-03 12:23:06" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000434649" "00433195" "1" "00006" "00006" "2023-03-03 12:29:37" "" "" "SEQ;SEQ-NG" "DNA" "" "98-gene panel" "0000442996" "00441510" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000044081" "COCH" "0000044084" "COCH" "0000100789" "COCH" "0000286186" "COCH" "0000286187" "COCH" "0000286188" "COCH" "0000286189" "COCH" "0000286190" "COCH" "0000286191" "COCH" "0000286192" "COCH" "0000286193" "COCH" "0000286194" "COCH" "0000286195" "COCH" "0000286196" "COCH" "0000286197" "COCH" "0000286198" "COCH" "0000286199" "COCH" "0000286200" "COCH" "0000286201" "COCH" "0000286202" "COCH" "0000286203" "COCH" "0000286204" "COCH" "0000286205" "COCH" "0000286206" "COCH" "0000286207" "COCH" "0000286208" "COCH" "0000286209" "COCH" "0000286210" "COCH" "0000286211" "COCH" "0000286212" "COCH" "0000286213" "COCH" "0000410214" "PMP22" ## 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 = 84 "{{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}}" "0000071896" "0" "90" "14" "31348145" "31348145" "subst" "0" "01342" "COCH_000001" "g.31348145T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30878939T>A" "" "pathogenic" "" "0000071898" "0" "90" "14" "31348145" "31348145" "subst" "0" "01342" "COCH_000001" "g.31348145T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30878939T>A" "" "pathogenic" "" "0000089794" "11" "90" "14" "31355200" "31355200" "subst" "0" "01542" "COCH_000002" "g.31355200C>T" "1/202 patients" "" "" "" "0/360 controls" "Germline" "yes" "" "0" "" "" "g.30885994C>T" "" "pathogenic" "" "0000163163" "0" "70" "14" "31355353" "31355353" "subst" "4.06673E-6" "01909" "COCH_000003" "g.31355353C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.30886147C>T" "" "VUS" "" "0000253879" "0" "10" "14" "31359024" "31359024" "subst" "0.248552" "01943" "COCH_000011" "g.31359024A>T" "" "" "" "COCH(NM_001135058.1):c.*27A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30889818A>T" "" "benign" "" "0000266869" "0" "10" "14" "31355096" "31355096" "subst" "0.558938" "02325" "COCH_000007" "g.31355096C>G" "" "" "" "COCH(NM_001135058.1):c.1055C>G (p.T352S), COCH(NM_001135058.2):c.1055C>G (p.T352S), LOC100506071(NR_038356.1):n.975G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30885890C>G" "" "benign" "" "0000273746" "0" "10" "14" "31355096" "31355096" "subst" "0.558938" "01943" "COCH_000007" "g.31355096C>G" "" "" "" "COCH(NM_001135058.1):c.1055C>G (p.T352S), COCH(NM_001135058.2):c.1055C>G (p.T352S), LOC100506071(NR_038356.1):n.975G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30885890C>G" "" "benign" "" "0000273747" "0" "50" "14" "31355311" "31355311" "subst" "0.00275" "01943" "COCH_000008" "g.31355311T>G" "" "" "" "COCH(NM_001135058.1):c.1270T>G (p.Y424D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30886105T>G" "" "VUS" "" "0000273748" "0" "10" "14" "31355527" "31355527" "subst" "0.0663694" "01943" "COCH_000009" "g.31355527C>A" "" "" "" "COCH(NM_001135058.1):c.1477+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30886321C>A" "" "benign" "" "0000273749" "0" "90" "14" "31346846" "31346846" "subst" "4.06075E-6" "01943" "COCH_000004" "g.31346846C>T" "" "" "" "COCH(NM_001135058.1):c.151C>T (p.P51S), COCH(NM_001135058.2):c.151C>T (p.P51S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30877640C>T" "" "pathogenic" "" "0000273750" "0" "50" "14" "31358935" "31358935" "subst" "8.93706E-5" "01943" "COCH_000010" "g.31358935G>C" "" "" "" "COCH(NM_001135058.1):c.1591G>C (p.E531Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30889729G>C" "" "VUS" "" "0000273751" "0" "90" "14" "31348036" "31348036" "subst" "0" "01943" "COCH_000005" "g.31348036G>T" "" "" "" "COCH(NM_001135058.1):c.259G>T (p.G87W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30878830G>T" "" "pathogenic" "" "0000273752" "0" "30" "14" "31349945" "31349945" "subst" "0.000915207" "01943" "COCH_000006" "g.31349945C>T" "" "" "" "COCH(NM_001135058.1):c.629+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30880739C>T" "" "likely benign" "" "0000337690" "0" "10" "14" "31355527" "31355527" "subst" "0.0663694" "02327" "COCH_000009" "g.31355527C>A" "" "" "" "COCH(NM_001135058.1):c.1477+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30886321C>A" "" "benign" "" "0000341427" "0" "50" "14" "31344151" "31344151" "subst" "8.14604E-6" "02327" "COCH_000012" "g.31344151G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30874945G>C" "" "VUS" "" "0000342887" "0" "30" "14" "31346821" "31346821" "subst" "2.03044E-5" "02327" "COCH_000013" "g.31346821G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30877615G>C" "" "likely benign" "" "0000346311" "0" "70" "14" "31348036" "31348036" "subst" "0" "02327" "COCH_000005" "g.31348036G>T" "" "" "" "COCH(NM_001135058.1):c.259G>T (p.G87W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30878830G>T" "" "likely pathogenic" "" "0000346313" "0" "90" "14" "31348040" "31348040" "subst" "0" "02327" "COCH_000014" "g.31348040G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30878834G>A" "" "pathogenic" "" "0000346706" "0" "70" "14" "31355156" "31355156" "subst" "0" "02327" "COCH_000019" "g.31355156T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30885950T>C" "" "likely pathogenic" "" "0000347940" "0" "70" "14" "31348138" "31348138" "subst" "0" "02327" "COCH_000016" "g.31348138T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30878932T>C" "" "likely pathogenic" "" "0000347987" "0" "30" "14" "31353794" "31353795" "del" "0" "02327" "COCH_000017" "g.31353794_31353795del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30884588_30884589del" "" "likely benign" "" "0000348489" "0" "90" "14" "31346846" "31346846" "subst" "4.06075E-6" "02327" "COCH_000004" "g.31346846C>T" "" "" "" "COCH(NM_001135058.1):c.151C>T (p.P51S), COCH(NM_001135058.2):c.151C>T (p.P51S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30877640C>T" "" "pathogenic" "" "0000348610" "0" "30" "14" "31348043" "31348043" "subst" "5.68482E-5" "02327" "COCH_000015" "g.31348043C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30878837C>A" "" "likely benign" "" "0000349467" "0" "10" "14" "31355096" "31355096" "subst" "0.558938" "02327" "COCH_000007" "g.31355096C>G" "" "" "" "COCH(NM_001135058.1):c.1055C>G (p.T352S), COCH(NM_001135058.2):c.1055C>G (p.T352S), LOC100506071(NR_038356.1):n.975G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30885890C>G" "" "benign" "" "0000351094" "0" "30" "14" "31354583" "31354583" "subst" "0" "02327" "COCH_000018" "g.31354583T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30885377T>C" "" "likely benign" "" "0000552492" "0" "90" "14" "31346846" "31346846" "subst" "4.06075E-6" "02329" "COCH_000004" "g.31346846C>T" "" "" "" "COCH(NM_001135058.1):c.151C>T (p.P51S), COCH(NM_001135058.2):c.151C>T (p.P51S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30877640C>T" "" "pathogenic" "" "0000552493" "0" "70" "14" "31346897" "31346897" "subst" "0" "02327" "COCH_000020" "g.31346897G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30877691G>C" "" "likely pathogenic" "" "0000552494" "0" "30" "14" "31348034" "31348034" "subst" "8.12123E-6" "02327" "COCH_000021" "g.31348034C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30878828C>T" "" "likely benign" "" "0000552495" "0" "50" "14" "31355057" "31355057" "subst" "0" "01943" "COCH_000022" "g.31355057C>T" "" "" "" "COCH(NM_001135058.1):c.1016C>T (p.T339I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30885851C>T" "" "VUS" "" "0000552496" "0" "30" "14" "31355389" "31355389" "subst" "0.000890348" "01943" "COCH_000023" "g.31355389A>G" "" "" "" "COCH(NM_001135058.1):c.1348A>G (p.I450V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30886183A>G" "" "likely benign" "" "0000552497" "0" "30" "14" "31355389" "31355389" "subst" "0.000890348" "02327" "COCH_000023" "g.31355389A>G" "" "" "" "COCH(NM_001135058.1):c.1348A>G (p.I450V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30886183A>G" "" "likely benign" "" "0000552498" "0" "50" "14" "31358807" "31358807" "subst" "0" "02327" "AP4S1_000012" "g.31358807A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30889601A>G" "" "VUS" "" "0000552499" "0" "30" "14" "31358935" "31358935" "subst" "8.93706E-5" "02327" "COCH_000010" "g.31358935G>C" "" "" "" "COCH(NM_001135058.1):c.1591G>C (p.E531Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30889729G>C" "" "likely benign" "" "0000614949" "0" "70" "14" "31348103" "31348103" "subst" "4.06072E-6" "02327" "COCH_000026" "g.31348103T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30878897T>C" "" "likely pathogenic" "" "0000623133" "0" "30" "14" "31346836" "31346836" "subst" "8.9335E-5" "01943" "COCH_000024" "g.31346836T>C" "" "" "" "COCH(NM_001347720.1):c.336T>C (p.D112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30877630T>C" "" "likely benign" "" "0000623134" "0" "30" "14" "31348065" "31348065" "subst" "2.03031E-5" "01943" "COCH_000025" "g.31348065T>C" "" "" "" "COCH(NM_001347720.1):c.483T>C (p.P161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30878859T>C" "" "likely benign" "" "0000623135" "0" "30" "14" "31354775" "31354775" "subst" "8.12222E-5" "01943" "COCH_000027" "g.31354775G>A" "" "" "" "COCH(NM_001347720.1):c.1104G>A (p.K368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30885569G>A" "" "likely benign" "" "0000641928" "1" "90" "14" "31346808" "31346808" "subst" "0" "00004" "COCH_000028" "g.31346808G>A" "" "{PMID:Choi 2013:23990876}" "" "G113A" "" "Germline" "yes" "" "0" "" "" "g.30877602G>A" "" "pathogenic (dominant)" "" "0000641929" "1" "33" "14" "31346836" "31346836" "subst" "8.9335E-5" "00004" "COCH_000024" "g.31346836T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30877630T>C" "" "likely benign" "" "0000641930" "1" "99" "14" "31346846" "31346846" "subst" "4.06075E-6" "00004" "COCH_000004" "g.31346846C>T" "" "{DB:DVD}, {PMID:Bischoff 2005:16151338}, {PMID:Robertson 2006:16481359}, {PMID:Fransen 2001:11332404}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}, {PMID:Fransen 1999:10400989}, {PMID:de Kok 1999:9931344}, {PMID:Hildebrand 2009:19161137}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30877640C>T" "" "pathogenic" "" "0000641931" "1" "99" "14" "31346892" "31346892" "subst" "0" "00004" "COCH_000029" "g.31346892T>G" "" "{DB:DVD}, {PMID:Manolis 1996:8817345}, {PMID:Robertson 1998:9806553}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30877686T>G" "" "pathogenic" "" "0000641932" "1" "33" "14" "31346941" "31346941" "subst" "4.06114E-6" "00004" "COCH_000030" "g.31346941C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30877735C>G" "" "likely benign" "" "0000641933" "1" "99" "14" "31348036" "31348036" "subst" "0" "00004" "COCH_000005" "g.31348036G>T" "" "{DB:DVD}, {PMID:Collin 2006:16835921}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30878830G>T" "" "pathogenic" "" "0000641934" "1" "99" "14" "31348037" "31348037" "subst" "0" "00004" "COCH_000031" "g.31348037G>T" "" "{DB:DVD}, {PMID:Yang 2013:23767834}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30878831G>T" "" "pathogenic" "" "0000641935" "1" "99" "14" "31348040" "31348040" "subst" "0" "00004" "COCH_000014" "g.31348040G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Robertson 1998:9806553}, {PMID:Tsukada 2015:25780252}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30878834G>A" "" "pathogenic" "" "0000641936" "1" "55" "14" "31348040" "31348040" "subst" "8.12123E-6" "00004" "COCH_000032" "g.31348040G>T" "" "{DB:DVD}, {PMID:Robertson 1998:9806553}, {PMID:Duzkale 2013:24033266}, {PMID:Yao 2010:20228067}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30878834G>T" "" "VUS" "" "0000641937" "1" "99" "14" "31348043" "31348043" "subst" "5.68482E-5" "00004" "COCH_000015" "g.31348043C>A" "" "{DB:DVD}, {PMID:Dodson 2012:22534022}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30878837C>A" "" "pathogenic" "" "0000641938" "1" "99" "14" "31348088" "31348090" "del" "0" "00004" "COCH_000033" "g.31348088_31348090del" "" "{DB:DVD}, {PMID:Nagy 2004:14729849}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30878882_30878884del" "" "pathogenic" "" "0000641939" "1" "99" "14" "31348103" "31348103" "subst" "0" "00004" "COCH_000034" "g.31348103T>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Grabski 2003:12928864}, {PMID:Kamarinos 2001:11295836}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30878897T>A" "" "pathogenic" "" "0000641940" "1" "99" "14" "31348103" "31348103" "subst" "4.06072E-6" "00004" "COCH_000026" "g.31348103T>C" "" "{DB:DVD}, {PMID:Pauw 2007:17561763}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30878897T>C" "" "pathogenic" "" "0000641941" "1" "90" "14" "31348118" "31348118" "subst" "0" "00004" "COCH_000035" "g.31348118T>C" "" "{PMID:Choi 2013:23990876}" "" "T341C" "" "Germline" "yes" "" "0" "" "" "g.30878912T>C" "" "pathogenic (dominant)" "" "0000641942" "1" "99" "14" "31348126" "31348126" "subst" "0" "00004" "COCH_000036" "g.31348126T>C" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Robertson 1998:9806553}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30878920T>C" "" "pathogenic" "" "0000641943" "1" "99" "14" "31348132" "31348132" "subst" "0" "00004" "COCH_000037" "g.31348132G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Usami 2003:14512963}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30878926G>A" "" "pathogenic" "" "0000641944" "1" "99" "14" "31348139" "31348139" "subst" "0" "00004" "COCH_000038" "g.31348139T>C" "" "{DB:DVD}, {PMID:Hildebrand 2010:21046548}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30878933T>C" "" "pathogenic" "" "0000641945" "1" "99" "14" "31349796" "31349796" "subst" "0" "00004" "COCH_000039" "g.31349796G>A" "" "{DB:DVD}, {PMID:Gao 2013:22931125}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30880590G>A" "" "pathogenic" "" "0000641946" "1" "99" "14" "31355156" "31355156" "subst" "0" "00004" "COCH_000019" "g.31355156T>C" "" "{DB:DVD}, {PMID:Tsukada 2015:25780252}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30885950T>C" "" "pathogenic" "" "0000641947" "1" "99" "14" "31355237" "31355254" "del" "0" "00004" "COCH_000040" "g.31355237_31355254del" "" "{DB:DVD}, {PMID:Gallant 2013:23374487}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30886031_30886048del" "" "pathogenic" "" "0000641948" "1" "77" "14" "31355344" "31355344" "subst" "0" "00004" "COCH_000041" "g.31355344A>G" "" "{DB:DVD}, {PMID:Ji 2014:25342930}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30886138A>G" "" "likely pathogenic" "" "0000641949" "1" "99" "14" "31355500" "31355500" "subst" "0" "00004" "COCH_000042" "g.31355500G>C" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30886294G>C" "" "pathogenic" "" "0000641950" "1" "77" "14" "31358873" "31358873" "subst" "0" "00004" "COCH_000043" "g.31358873A>G" "" "{DB:DVD}, {PMID:Ji 2014:25342930}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30889667A>G" "" "likely pathogenic" "" "0000641951" "1" "99" "14" "31358879" "31358879" "subst" "8.1242E-6" "00004" "COCH_000044" "g.31358879T>C" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Yuan 2008:18312449}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30889673T>C" "" "pathogenic" "" "0000641952" "1" "99" "14" "31358924" "31358924" "subst" "0" "00004" "COCH_000045" "g.31358924T>G" "" "{DB:DVD}, {PMID:Cho 2012:22610276}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30889718T>G" "" "pathogenic" "" "0000641953" "1" "99" "14" "31358968" "31358968" "subst" "4.06802E-6" "00004" "COCH_000046" "g.31358968T>C" "" "{DB:DVD}, {PMID:Tsukada 2015:25780252}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30889762T>C" "" "pathogenic" "" "0000641954" "1" "99" "14" "31358969" "31358969" "subst" "0" "00004" "COCH_000047" "g.31358969G>T" "" "{DB:DVD}, {PMID:Street 2005:16261627}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30889763G>T" "" "pathogenic" "" "0000641955" "1" "99" "14" "31358969" "31358969" "subst" "0" "00004" "COCH_000048" "g.31358969G>A" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Yuan 2008:18312449}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.30889763G>A" "" "pathogenic" "" "0000648886" "1" "90" "14" "31346846" "31346846" "subst" "4.06075E-6" "03575" "COCH_000004" "g.31346846C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs28938175}" "Germline" "" "rs28938175" "0" "" "" "g.30877640C>T" "" "pathogenic" "" "0000657437" "0" "30" "14" "31349926" "31349926" "subst" "0.00049575" "01943" "COCH_000049" "g.31349926C>T" "" "" "" "COCH(NM_001347720.1):c.810C>T (p.G270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30880720C>T" "" "likely benign" "" "0000698981" "0" "50" "14" "31358831" "31358831" "subst" "0" "03779" "COCH_000050" "g.31358831T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000724756" "0" "30" "14" "31349830" "31349830" "subst" "1.62459E-5" "01943" "COCH_000051" "g.31349830C>T" "" "" "" "COCH(NM_001347720.1):c.714C>T (p.S238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806388" "0" "50" "14" "31346858" "31346858" "subst" "0" "01943" "COCH_000052" "g.31346858C>G" "" "" "" "COCH(NM_001347720.1):c.358C>G (p.P120A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806389" "0" "50" "14" "31355012" "31355012" "subst" "4.50384E-5" "01943" "COCH_000053" "g.31355012G>A" "" "" "" "COCH(NM_001347720.1):c.1166G>A (p.R389Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806390" "0" "50" "14" "31355270" "31355270" "subst" "0" "02327" "COCH_000054" "g.31355270A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806391" "0" "50" "14" "31355477" "31355477" "subst" "0" "02327" "COCH_000055" "g.31355477A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823178" "0" "50" "14" "31354606" "31354606" "subst" "4.06144E-6" "03779" "COCH_000056" "g.31354606C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs749516210" "0" "" "" "" "" "VUS" "" "0000847481" "0" "90" "14" "31348103" "31348103" "subst" "4.06072E-6" "00000" "COCH_000026" "g.31348103T>C" "" "" "" "c.326T>C" "" "Germline" "" "rs1219089" "0" "" "" "" "" "pathogenic" "" "0000853822" "0" "30" "14" "31349866" "31349866" "subst" "0" "02327" "COCH_000058" "g.31349866G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853823" "0" "30" "14" "31355088" "31355088" "subst" "0" "01943" "COCH_000059" "g.31355088G>A" "" "" "" "COCH(NM_001347720.1):c.1242G>A (p.K414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863551" "0" "30" "14" "31349850" "31349850" "subst" "8.12302E-5" "02327" "COCH_000057" "g.31349850G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891775" "0" "50" "14" "31355365" "31355365" "subst" "8.14432E-6" "02327" "COCH_000060" "g.31355365G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920502" "3" "90" "14" "31355025" "31355026" "dup" "0" "00006" "COCH_000061" "g.31355025_31355026dup" "" "{PMID:Danial-Farran 2021:32939038}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30885819_30885820dup" "" "pathogenic (recessive)" "" "0000920503" "3" "90" "14" "31348069" "31348069" "subst" "8.12123E-6" "00006" "COCH_000062" "g.31348069C>T" "" "{PMID:Janssens de Varebeke 2021:29449721}" "" "" "" "Germline" "yes" "" "0" "" "" "g.30878863C>T" "" "pathogenic (recessive)" "" "0000921778" "0" "50" "14" "31355191" "31355191" "subst" "8.53007E-5" "03779" "COCH_000063" "g.31355191C>T" "" "" "" "" "" "Unknown" "" "rs756541797" "0" "" "" "" "" "VUS" "" "0000944355" "0" "70" "14" "31349846" "31349846" "subst" "4.06147E-6" "00006" "COCH_000064" "g.31349846C>T" "" "{PMID:Boucher 2020:33229591}" "" "NM_001347720:c.730C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30880640C>T" "" "likely pathogenic (dominant)" "" "0001046470" "0" "50" "14" "31346921" "31346921" "subst" "0" "02327" "COCH_000065" "g.31346921G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes COCH ## Count = 84 "{{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}}" "0000071896" "00005445" "90" "368" "0" "368" "0" "c.368T>A" "r.(?)" "p.(Val123Glu)" "" "0000071898" "00005445" "90" "368" "0" "368" "0" "c.368T>A" "r.(?)" "p.(Val123Glu)" "5" "0000089794" "00005445" "90" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Leu387Phe)" "11" "0000163163" "00005445" "70" "1312" "0" "1312" "0" "c.1312C>T" "r.(?)" "p.(Arg438Cys)" "11" "0000253879" "00005445" "10" "1680" "0" "1680" "0" "c.*27A>T" "r.(=)" "p.(=)" "" "0000266869" "00005445" "10" "1055" "0" "1055" "0" "c.1055C>G" "r.(?)" "p.(Thr352Ser)" "" "0000273746" "00005445" "10" "1055" "0" "1055" "0" "c.1055C>G" "r.(?)" "p.(Thr352Ser)" "" "0000273747" "00005445" "50" "1270" "0" "1270" "0" "c.1270T>G" "r.(?)" "p.(Tyr424Asp)" "" "0000273748" "00005445" "10" "1477" "9" "1477" "9" "c.1477+9C>A" "r.(=)" "p.(=)" "" "0000273749" "00005445" "90" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Pro51Ser)" "" "0000273750" "00005445" "50" "1591" "0" "1591" "0" "c.1591G>C" "r.(?)" "p.(Glu531Gln)" "" "0000273751" "00005445" "90" "259" "0" "259" "0" "c.259G>T" "r.(?)" "p.(Gly87Trp)" "" "0000273752" "00005445" "30" "629" "5" "629" "5" "c.629+5C>T" "r.spl?" "p.?" "" "0000337690" "00005445" "10" "1477" "9" "1477" "9" "c.1477+9C>A" "r.(=)" "p.(=)" "" "0000341427" "00005445" "50" "7" "0" "7" "0" "c.7G>C" "r.(?)" "p.(Ala3Pro)" "" "0000342887" "00005445" "30" "126" "0" "126" "0" "c.126G>C" "r.(?)" "p.(Arg42Ser)" "" "0000346311" "00005445" "70" "259" "0" "259" "0" "c.259G>T" "r.(?)" "p.(Gly87Trp)" "" "0000346313" "00005445" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Gly88Glu)" "" "0000346706" "00005445" "70" "1115" "0" "1115" "0" "c.1115T>C" "r.(?)" "p.(Ile372Thr)" "" "0000347940" "00005445" "70" "361" "0" "361" "0" "c.361T>C" "r.(?)" "p.(Phe121Leu)" "" "0000347987" "00005445" "30" "665" "0" "666" "0" "c.665_666del" "r.(?)" "p.(Phe222TyrfsTer19)" "" "0000348489" "00005445" "90" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Pro51Ser)" "" "0000348610" "00005445" "30" "266" "0" "266" "0" "c.266C>A" "r.(?)" "p.(Pro89His)" "" "0000349467" "00005445" "10" "1055" "0" "1055" "0" "c.1055C>G" "r.(?)" "p.(Thr352Ser)" "" "0000351094" "00005445" "30" "734" "-17" "734" "-17" "c.734-17T>C" "r.(=)" "p.(=)" "" "0000552492" "00005445" "90" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Pro51Ser)" "" "0000552493" "00005445" "70" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Ala68Pro)" "" "0000552494" "00005445" "30" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Ser86Leu)" "" "0000552495" "00005445" "50" "1016" "0" "1016" "0" "c.1016C>T" "r.(?)" "p.(Thr339Ile)" "" "0000552496" "00005445" "30" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Ile450Val)" "" "0000552497" "00005445" "30" "1348" "0" "1348" "0" "c.1348A>G" "r.(?)" "p.(Ile450Val)" "" "0000552498" "00005445" "50" "1478" "-15" "1478" "-15" "c.1478-15A>G" "r.(=)" "p.(=)" "" "0000552499" "00005445" "30" "1591" "0" "1591" "0" "c.1591G>C" "r.(?)" "p.(Glu531Gln)" "" "0000614949" "00005445" "70" "326" "0" "326" "0" "c.326T>C" "r.(?)" "p.(Ile109Thr)" "" "0000623133" "00005445" "30" "141" "0" "141" "0" "c.141T>C" "r.(?)" "p.(Asp47=)" "" "0000623134" "00005445" "30" "288" "0" "288" "0" "c.288T>C" "r.(?)" "p.(Pro96=)" "" "0000623135" "00005445" "30" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Lys303=)" "" "0000641928" "00005445" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "4" "0000641929" "00005445" "33" "141" "0" "141" "0" "c.141T>C" "r.(=)" "p.(=)" "4" "0000641930" "00005445" "99" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Pro51Ser)" "4" "0000641931" "00005445" "99" "197" "0" "197" "0" "c.197T>G" "r.(?)" "p.(Val66Gly)" "4" "0000641932" "00005445" "33" "239" "7" "239" "7" "c.239+7C>G" "r.(=)" "p.(=)" "4i" "0000641933" "00005445" "99" "259" "0" "259" "0" "c.259G>T" "r.(?)" "p.(Gly87Trp)" "5" "0000641934" "00005445" "99" "260" "0" "260" "0" "c.260G>T" "r.(?)" "p.(Gly87Val)" "5" "0000641935" "00005445" "99" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Gly88Glu)" "5" "0000641936" "00005445" "55" "263" "0" "263" "0" "c.263G>T" "r.(?)" "p.(Gly88Val)" "5" "0000641937" "00005445" "99" "266" "0" "266" "0" "c.266C>A" "r.(?)" "p.(Pro89His)" "5" "0000641938" "00005445" "99" "311" "0" "313" "0" "c.311_313del" "r.(?)" "p.(Val104del)" "5" "0000641939" "00005445" "99" "326" "0" "326" "0" "c.326T>A" "r.(?)" "p.(Ile109Asn)" "5" "0000641940" "00005445" "99" "326" "0" "326" "0" "c.326T>C" "r.(?)" "p.(Ile109Thr)" "5" "0000641941" "00005445" "90" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Leu114Pro)" "5" "0000641942" "00005445" "99" "349" "0" "349" "0" "c.349T>C" "r.(?)" "p.(Trp117Arg)" "5" "0000641943" "00005445" "99" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Ala119Thr)" "5" "0000641944" "00005445" "99" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Phe121Ser)" "5" "0000641945" "00005445" "99" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Cys162Tyr)" "8" "0000641946" "00005445" "99" "1115" "0" "1115" "0" "c.1115T>C" "r.(?)" "p.(Ile372Thr)" "11" "0000641947" "00005445" "99" "1196" "0" "1213" "0" "c.1196_1213del" "r.(?)" "p.(Ile399_Ala404del)" "11" "0000641948" "00005445" "77" "1303" "0" "1303" "0" "c.1303A>G" "r.(?)" "p.(Arg435Gly)" "11" "0000641949" "00005445" "99" "1459" "0" "1459" "0" "c.1459G>C" "r.(?)" "p.(Ala487Pro)" "11" "0000641950" "00005445" "77" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Lys510Arg)" "12" "0000641951" "00005445" "99" "1535" "0" "1535" "0" "c.1535T>C" "r.(?)" "p.(Met512Thr)" "12" "0000641952" "00005445" "99" "1580" "0" "1580" "0" "c.1580T>G" "r.(?)" "p.(Phe527Cys)" "12" "0000641953" "00005445" "99" "1624" "0" "1624" "0" "c.1624T>C" "r.(?)" "p.(Cys542Arg)" "12" "0000641954" "00005445" "99" "1625" "0" "1625" "0" "c.1625G>T" "r.(?)" "p.(Cys542Phe)" "12" "0000641955" "00005445" "99" "1625" "0" "1625" "0" "c.1625G>A" "r.(?)" "p.(Cys542Tyr)" "12" "0000648886" "00005445" "90" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Pro51Ser)" "" "0000657437" "00005445" "30" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Gly205=)" "" "0000698981" "00005445" "50" "1487" "0" "1487" "0" "c.1487T>A" "r.(?)" "p.(Ile496Asn)" "" "0000724756" "00005445" "30" "519" "0" "519" "0" "c.519C>T" "r.(?)" "p.(Ser173=)" "" "0000806388" "00005445" "50" "163" "0" "163" "0" "c.163C>G" "r.(?)" "p.(Pro55Ala)" "" "0000806389" "00005445" "50" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Arg324Gln)" "" "0000806390" "00005445" "50" "1229" "0" "1229" "0" "c.1229A>G" "r.(?)" "p.(Gln410Arg)" "" "0000806391" "00005445" "50" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Tyr479Cys)" "" "0000823178" "00005445" "50" "740" "0" "740" "0" "c.740C>G" "r.(?)" "p.(Ala247Gly)" "" "0000847481" "00005445" "90" "326" "0" "326" "0" "c.326T>C" "r.(?)" "p.(Ile109Thr)" "5" "0000853822" "00005445" "30" "555" "0" "555" "0" "c.555G>A" "r.(?)" "p.(Lys185=)" "" "0000853823" "00005445" "30" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Lys349=)" "" "0000863551" "00005445" "30" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180Gln)" "" "0000891775" "00005445" "50" "1324" "0" "1324" "0" "c.1324G>C" "r.(?)" "p.(Gly442Arg)" "" "0000920502" "00005445" "90" "984" "0" "985" "0" "c.984_985dup" "r.984_985dup" "p.Phe329Serfs*16" "" "0000920503" "00005445" "90" "292" "0" "292" "0" "c.292C>T" "r.292c>u|<0.1" "p.(Arg98*)" "" "0000921778" "00005445" "50" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Arg384Cys)" "" "0000944355" "00005445" "70" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Cys)" "" "0001046470" "00005445" "50" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Ala76Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{variantid}}" "0000044081" "0000071896" "0000044084" "0000071898" "0000058996" "0000089794" "0000100789" "0000163163" "0000286186" "0000641928" "0000286187" "0000641929" "0000286188" "0000641930" "0000286189" "0000641931" "0000286190" "0000641932" "0000286191" "0000641933" "0000286192" "0000641934" "0000286193" "0000641935" "0000286194" "0000641936" "0000286195" "0000641937" "0000286196" "0000641938" "0000286197" "0000641939" "0000286198" "0000641940" "0000286199" "0000641941" "0000286200" "0000641942" "0000286201" "0000641943" "0000286202" "0000641944" "0000286203" "0000641945" "0000286204" "0000641946" "0000286205" "0000641947" "0000286206" "0000641948" "0000286207" "0000641949" "0000286208" "0000641950" "0000286209" "0000641951" "0000286210" "0000641952" "0000286211" "0000641953" "0000286212" "0000641954" "0000286213" "0000641955" "0000292197" "0000648886" "0000410214" "0000847481" "0000434648" "0000920502" "0000434649" "0000920503" "0000442996" "0000944355"