### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMC1) # 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}}" "TMC1" "transmembrane channel-like 1" "9" "q21" "unknown" "NG_008213.1" "UD_132118446028" "{PMID:Roux 2011:21436283}" "http://www.LOVD.nl/TMC1" "Deafness Gene Mutation Database \r\nDeafness Variation Database \r\nMoBiDiC " "1" "16513" "117531" "606706" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the TMC1 database using: www.LOVD.nl/TMC1
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
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/TMC1_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2012-04-05 00:00:00" "00006" "2024-02-11 20:35:49" "00000" "2025-05-05 21:14:00" ## 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}}" "00021219" "TMC1" "transmembrane channel-like 1" "001" "NM_138691.2" "" "NP_619636.2" "" "" "" "-540" "2661" "2283" "75136717" "75451267" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "02330" "DFNB7" "deafness, autosomal recessive, type 7 (DFNB-7)" "AR" "600974" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02596" "DFNA36" "deafness, autosomal dominant, type 36 (DFNA-36)" "AD" "606705" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "TMC1" "02330" "TMC1" "02596" "TMC1" "05400" "TMC1" "05458" "TMC1" "06877" ## Individuals ## Do not remove or alter this header ## ## Count = 210 "{{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}}" "00059045" "" "" "" "1" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Jewish-mixed" "" "00059046" "" "" "" "2" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "yes" "Israel" "" "0" "" "" "Druze" "" "00059047" "" "" "" "2" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi;Algeria" "" "00059188" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059199" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059200" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059202" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00060243" "" "" "" "4" "" "01542" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "3-generation family, 4 affected3 (F, 3M), unaffected heterozygous carrier parents/sibs" "F;M" "no" "Israel" "" "0" "" "" "Morocco;Jewish" "" "00060244" "" "" "" "2" "" "01542" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "2-generation family, 1affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "Israel" "" "0" "" "" "Morocco;Jewish" "" "00060253" "" "" "" "3" "" "01542" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/sibs" "F;M" "no" "Israel" "" "0" "" "" "Morocco;Jewish" "" "00060254" "" "" "" "3" "" "01542" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/sibs" "F;M" "no" "Israel" "" "0" "" "" "Morocco;Jewish" "" "00060295" "" "" "" "16" "" "00006" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "282 controls" "F;M" "-" "Israel" "" "0" "" "" "" "" "00060296" "" "" "" "1" "" "00006" "" "29 controls" "" "" "Israel" "" "0" "" "" "Druze" "" "00080022" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00166909" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Proband" "M" "" "Greece" "" "0" "" "" "" "" "00166910" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Greece" "" "0" "" "" "" "" "00166911" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "M" "" "Greece" "" "0" "" "" "" "" "00166912" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Greece" "" "0" "" "" "" "" "00166913" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "M" "" "Greece" "" "0" "" "" "" "" "00166914" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Proband" "M" "" "Iran" "" "0" "" "" "" "" "00166915" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00166916" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00166917" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00166918" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Proband" "M" "" "Iran" "" "0" "" "" "" "" "00166919" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00166920" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00166921" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00166922" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00166923" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Proband" "M" "" "Iran" "" "0" "" "" "" "" "00166924" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00166925" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00166926" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00166927" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00166928" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Proband" "M" "" "Jordan" "" "0" "" "" "" "" "00166929" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Jordan" "" "0" "" "" "" "" "00166930" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Jordan" "" "0" "" "" "" "" "00166931" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Jordan" "" "0" "" "" "" "" "00166932" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Jordan" "" "0" "" "" "" "" "00166933" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Jordan" "" "0" "" "" "" "" "00166934" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Proband" "F" "" "Jordan" "" "0" "" "" "" "" "00166935" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "F" "" "Jordan" "" "0" "" "" "" "" "00166936" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Relative" "M" "" "Jordan" "" "0" "" "" "" "" "00166937" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Proband" "" "" "Turkey" "" "0" "" "" "" "" "00166938" "" "" "" "1" "" "02416" "{PMID:Hilgert 2008:18616530}" "Proband" "" "" "Turkey" "" "0" "" "" "" "" "00166939" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00166940" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166941" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "F" "" "United States" "" "0" "" "" "" "" "00166942" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166943" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166944" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "F" "" "United States" "" "0" "" "" "" "" "00166945" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166946" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166947" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166948" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "F" "" "United States" "" "0" "" "" "" "" "00166949" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166950" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "F" "" "United States" "" "0" "" "" "" "" "00166951" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166952" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166953" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166954" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166955" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166956" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166957" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166958" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166959" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166960" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166961" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166962" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166963" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166964" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166965" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00166966" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166967" "" "" "" "1" "" "02416" "{PMID:Kurima 2002:11850618}" "Proband" "F" "" "India" "" "0" "" "" "" "" "00166968" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17877751}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166969" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17877751}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166970" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17877751}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166971" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17877751}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166972" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17877751}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166973" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17877751}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166974" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17877751}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166975" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17877751}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166976" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17877751}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00166977" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17250663}" "Proband" "M" "" "" "" "0" "" "" "North America" "" "00166978" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17250663}" "Relative" "M" "" "" "" "0" "" "" "North America" "" "00166979" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17250663}" "Relative" "F" "" "" "" "0" "" "" "North America" "" "00166980" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17250663}" "Relative" "F" "" "" "" "0" "" "" "North America" "" "00166981" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17250663}" "Relative" "M" "" "" "" "0" "" "" "North America" "" "00166982" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17250663}" "Relative" "M" "" "" "" "0" "" "" "North America" "" "00166983" "" "" "" "1" "" "02416" "{PMID:Hilgert 2009:19180119}" "Proband" "M" "" "" "" "0" "" "" "North America" "" "00166984" "" "" "" "1" "" "02416" "{PMID:Hilgert 2009:19180119}" "Relative" "M" "" "" "" "0" "" "" "North America" "" "00166985" "" "" "" "1" "" "02416" "{PMID:Hilgert 2009:19180119}" "Relative" "F" "" "" "" "0" "" "" "North America" "" "00166986" "" "" "" "1" "" "02416" "{PMID:Hilgert 2009:19180119}" "Relative" "F" "" "" "" "0" "" "" "North America" "" "00166987" "" "" "" "1" "" "02416" "{PMID:Hilgert 2009:19180119}" "Relative" "F" "" "" "" "0" "" "" "North America" "" "00166988" "" "" "" "1" "" "02416" "{PMID:Hilgert 2009:19180119}" "Relative" "M" "" "" "" "0" "" "" "North America" "" "00166989" "" "" "" "1" "" "02416" "{PMID:Hilgert 2009:19180119}" "Relative" "M" "" "" "" "0" "" "" "North America" "" "00166990" "" "" "" "1" "" "02416" "{PMID:Hilgert 2009:19180119}" "Relative" "M" "" "" "" "0" "" "" "North America" "" "00166991" "" "" "" "1" "" "02416" "{PMID:Hilgert 2009:19180119}" "Relative" "F" "" "" "" "0" "" "" "North America" "" "00166992" "" "" "" "1" "" "02416" "{PMID:Santos 2005:16134132}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00166993" "" "" "" "1" "" "02416" "{PMID:Santos 2005:16134132}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00166994" "" "" "" "1" "" "02416" "{PMID:Santos 2005:16134132}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00166995" "" "" "" "1" "" "02416" "{PMID:Santos 2005:16134132}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00166996" "" "" "" "1" "" "02416" "{PMID:Santos 2005:16134132}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00166997" "" "" "" "1" "" "02416" "{PMID:Santos 2005:16134132}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00166998" "" "" "" "1" "" "02416" "{PMID:Santos 2005:16134132}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00166999" "" "" "" "1" "" "02416" "{PMID:Santos 2005:16134132}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00167000" "" "" "" "1" "" "02416" "{PMID:Kitajiri 2007:17877751}" "Proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00167001" "" "" "" "1" "" "02416" "{PMID:Meyer 2004:15605408}" "Proband" "M" "" "Sudan" "" "0" "" "" "" "" "00167002" "" "" "" "1" "" "02416" "{PMID:Meyer 2004:15605408}" "Relative" "F" "" "Sudan" "" "0" "" "" "" "" "00167003" "" "" "" "1" "" "02416" "{PMID:Meyer 2004:15605408}" "Proband" "M" "" "Sudan" "" "0" "" "" "" "" "00167004" "" "" "" "1" "" "02416" "{PMID:Meyer 2004:15605408}" "Relative" "F" "" "Sudan" "" "0" "" "" "" "" "00167005" "" "" "" "1" "" "02416" "{PMID:Meyer 2004:15605408}" "Relative" "M" "" "Sudan" "" "0" "" "" "" "" "00167006" "" "" "" "1" "" "02416" "{PMID:Meyer 2004:15605408}" "Relative" "F" "" "Sudan" "" "0" "" "" "" "" "00167007" "" "" "" "1" "" "02416" "{PMID:Kalay 2005:16287143}" "Proband" "F" "" "Turkey" "" "0" "" "" "" "" "00167008" "" "" "" "1" "" "02416" "{PMID:Kalay 2005:16287143}" "Proband" "F" "" "Turkey" "" "0" "" "" "" "" "00167009" "" "" "" "1" "" "02416" "{PMID:Kalay 2005:16287143}" "Proband" "M" "" "Turkey" "" "0" "" "" "" "" "00167010" "" "" "" "1" "" "02416" "{PMID:Meyer 2004:15605408}" "Proband" "F" "" "Turkey" "" "0" "" "" "" "" "00167011" "" "" "" "1" "" "02416" "{PMID:Sirmaci 2009:19187973}" "Proband" "M" "" "Turkey" "" "0" "" "" "" "" "00167012" "" "" "" "1" "" "02416" "{PMID:Sirmaci 2009:19187973}" "Proband" "F" "" "Turkey" "" "0" "" "" "" "" "00167013" "" "" "" "1" "" "02416" "{PMID:Sirmaci 2009:19187973}" "Proband" "M" "" "Turkey" "" "0" "" "" "" "" "00167014" "" "" "" "1" "" "02416" "{PMID:Sirmaci 2009:19187973}" "Proband" "F" "" "Turkey" "" "0" "" "" "" "" "00167015" "" "" "" "1" "" "02416" "{PMID:Sirmaci 2009:19187973}" "Proband" "M" "" "Turkey" "" "0" "" "" "" "" "00167016" "" "" "" "1" "" "02416" "{PMID:Sirmaci 2009:19187973}" "Proband" "F" "" "Turkey" "" "0" "" "" "" "" "00167017" "" "" "" "1" "" "02416" "{PMID:Sirmaci 2009:19187973}" "Proband" "M" "" "Turkey" "" "0" "" "" "" "" "00167018" "" "" "" "1" "" "02416" "{PMID:Ben Saïd 2010:20373850}" "Proband" "" "" "Algeria" "" "0" "" "" "" "" "00167019" "" "" "" "1" "" "02416" "{PMID:Ben Saïd 2010:20373850}" "Proband" "" "" "Algeria" "" "0" "" "" "" "" "00167020" "" "" "" "1" "" "02416" "{PMID:Ben Saïd 2010:20373850}" "Proband" "" "" "Pakistan" "" "0" "" "" "" "" "00167021" "" "" "" "1" "" "02416" "{PMID:Hildebrand 2010:21250555}" "Proband" "M" "" "Iran" "" "0" "" "" "" "" "00167022" "" "" "" "1" "" "02416" "{PMID:Hildebrand 2010:21250555}" "Proband" "M" "" "Iran" "" "0" "" "" "" "" "00167023" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Proband" "M" "" "Morocco" "" "0" "" "" "" "" "00167024" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Proband" "F" "" "Morocco" "" "0" "" "" "" "" "00167025" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "" "F" "" "Morocco" "" "0" "" "" "" "" "00167026" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Proband" "M" "" "Morocco" "" "0" "" "" "" "" "00167027" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Proband" "F" "" "Morocco" "" "0" "" "" "" "" "00167028" "" "" "" "1" "" "02416" "{PMID:Brownstein 2011:21917145}" "Proband" "F" "" "Morocco" "" "0" "" "" "" "" "00167029" "" "" "" "1" "" "02416" "{PMID:Duman 2011:21117948}" "Proband" "" "" "Turkey" "" "0" "" "" "" "" "00167030" "" "" "" "1" "" "02416" "{PMID:Tlili 2008:18259073}" "Proband" "F" "" "Tunisia" "" "0" "" "" "" "" "00167031" "" "" "" "1" "" "02416" "{PMID:Tlili 2008:18259073}" "proband" "F" "" "Tunisia" "" "0" "" "" "" "" "00167032" "" "" "" "1" "" "02416" "{PMID:Tlili 2008:18259073}" "Proband" "F" "" "Tunisia" "" "0" "" "" "" "" "00167033" "" "" "" "1" "" "02416" "{PMID:Tlili 2008:18259073}" "Proband" "F" "" "Tunisia" "" "0" "" "" "" "" "00167034" "" "" "" "1" "" "02416" "{PMID:Tlili 2008:18259073}" "Proband" "F" "" "Tunisia" "" "0" "" "" "" "" "00167035" "" "" "" "1" "" "02416" "{PMID:De Heer 2010:21252500}" "Proband" "M" "" "Netherlands" "" "0" "" "" "" "" "00167036" "" "" "" "1" "" "02416" "{PMID:Searle 2012:22288896}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167141" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "" "" "0" "" "" "" "" "00167160" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167161" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167162" "" "" "" "1" "" "02416" "{PMID:Yang 2013:23767834}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167235" "" "" "" "1" "" "02416" "{PMID:Gao 2013:23690975}" "" "" "" "China" "" "0" "" "" "" "" "00167241" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00167242" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00167243" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00167244" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00167245" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "M" "" "India" "" "0" "" "" "" "" "00167246" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00167247" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "" "" "India" "" "0" "" "" "" "" "00167248" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "M" "" "India" "" "0" "" "" "" "" "00167249" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Relative" "F" "" "India" "" "0" "" "" "" "" "00167250" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "" "" "India" "" "0" "" "" "" "" "00167251" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "" "" "India" "" "0" "" "" "" "" "00167252" "" "" "" "1" "" "02416" "{PMID:Ganapathy 2014:24416283}" "Proband" "" "" "India" "" "0" "" "" "" "" "00167293" "" "" "" "1" "" "02416" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "M" "" "Iran" "" "0" "" "" "" "" "00168031" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "M" "" "France" "" "0" "" "" "" "S1704" "00168032" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "M" "" "France" "" "0" "" "" "" "S1793" "00265280" "" "" "" "1" "" "03388" "PubMed" "" "F" "yes" "Iran" "09y?" "0" "no" "none" "" "NSHLF1" "00294882" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327067" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB276-544" "00327068" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB279-550" "00327106" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SH296-672" "00327107" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB279-551" "00327126" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB429-833" "00327144" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327383" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB281-553" "00327389" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00331307" "" "" "" "1" "" "00000" "{PMID:Chen 2018:29692870}" "" "" "" "China" "" "0" "" "" "Uyghur" "FamJ09" "00331308" "" "" "" "1" "" "00000" "{PMID:Chen 2015:26011067}, {PMID:Chen 2018:29692870}" "" "" "" "China" "" "0" "" "" "Uyghur" "KLX10;FamJ11" "00359400" "" "" "" "1" "" "03848" "" "" "M" "no" "China" "" "" "" "" "Chinese" "" "00383282" "" "" "" "1" "" "00110" "Vaché et al., submitted" "" "M" "yes" "" "" "0" "" "" "" "FR01199350441" "00384623" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "F" "yes" "Israel" "" "0" "" "" "" "Family 1 patient 1" "00404084" "" "" "" "1" "" "03194" "{PMID:Kraatari-Tiri 2022:35407445}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Finland" "" "0" "" "" "" "Fam1" "00404085" "" "" "" "2" "" "03194" "{PMID:Kraatari-Tiri 2022:35407445}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "Finland" "" "0" "" "" "" "Fam5" "00404086" "" "" "" "1" "" "03194" "{PMID:Kraatari-Tiri 2022:35407445}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Finland" "" "0" "" "" "" "Fam6" "00404087" "" "" "" "3" "" "03194" "{PMID:Kraatari-Tiri 2022:35407445}" "3-generation family, affected, grandmother/mother/daughter (3F)" "F" "no" "Finland" "" "0" "" "" "" "Fam8" "00411190" "" "" "" "1" "" "00006" "{PMID:Kraatari-Tiri 2022:35407445}" "2-generation family, 1 affected, unaffected parents" "F" "" "Finland" "" "0" "" "" "" "Fam2" "00411191" "" "" "" "2" "" "00006" "{PMID:Kraatari-Tiri 2022:35407445}" "2-generation family, 2 affected brothers, unaffected parents" "M" "" "Finland" "" "0" "" "" "" "Fam3" "00411192" "" "" "" "7" "" "00006" "{PMID:Kraatari-Tiri 2022:35407445}" "2-generation family, 7 affected (2F, 5M), unaffected parents" "F;M" "" "Finland" "" "0" "" "" "" "Fam4" "00411193" "" "" "" "1" "" "00006" "{PMID:Kraatari-Tiri 2022:35407445}" "2-generation family, 1 affected, unaffected parents" "F" "" "Finland" "" "0" "" "" "" "Fam7" "00428679" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 2 affected sisters, carrier mother/relatives" "F" "no" "Gabon" "" "" "" "" "Africa" "Fam47" "00441119" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamD008" "00441415" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4367" "00441416" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1584" "00441417" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKSR39a" "00441418" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4451" "00441419" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4396" "00441420" "" "" "" "6" "" "00006" "{PMID:Richard 2019: 30303587}" "2-generation family, 6 affected sibs (3F, 3M)" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF/PKSR13b" "00441421" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4147" "00441422" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4132" "00441423" "" "" "" "5" "" "00006" "{PMID:Richard 2019: 30303587}" "4-generation family, 5 affected (3F, 2M)" "" "yes" "Pakistan" "" "0" "" "" "" "HL006" "00441424" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF025" "00441425" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4325" "00441426" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1449" "00441427" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4350" "00441428" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1617" "00441429" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4370A" "00441430" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4724" "00441462" "" "" "" "13" "" "00006" "{PMID:Ozieblo 2019:31655630}" "5-generation family, 13 affected (5F, 8M)" "F;M" "" "Poland" "" "0" "" "" "" "family" "00441506" "" "" "" "7" "" "00006" "{PMID:Boucher 2020:33229591}" "4-generation family, 7 affected (F, 6M)" "M" "" "France" "" "0" "" "" "" "PAR093" "00441629" "" "" "" "3" "" "00006" "{PMID:Imtiaz 2016:26879195}, {PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-27" "00441630" "" "" "" "4" "" "00006" "{PMID:Hilgert 2009:18985073}, {PMID:Naz 2017:27573290}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "PHLAI-01" "00441631" "" "" "" "4" "" "00006" "{PMID:Imtiaz 2016:26879195}, {PMID:Naz 2017:27573290}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-04" "00441632" "" "" "" "3" "" "00006" "{PMID:Imtiaz 2016:26879195}, {PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-14" "00448249" "" "" "" "1" "" "04614" "" "" "F" "no" "Spain" "" "" "" "" "Spain" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 210 "{{individualid}}" "{{diseaseid}}" "00059045" "02330" "00059046" "02330" "00059047" "02330" "00059188" "00531" "00059199" "00531" "00059200" "00531" "00059202" "00531" "00060243" "02330" "00060244" "02330" "00060253" "02330" "00060254" "02330" "00060295" "00000" "00060296" "00000" "00080022" "05103" "00166909" "05400" "00166910" "05400" "00166911" "05400" "00166912" "05400" "00166913" "05400" "00166914" "05400" "00166915" "05400" "00166916" "05400" "00166917" "05400" "00166918" "05400" "00166919" "05400" "00166920" "05400" "00166921" "05400" "00166922" "05400" "00166923" "05400" "00166924" "05400" "00166925" "05400" "00166926" "05400" "00166927" "05400" "00166928" "05400" "00166929" "05400" "00166930" "05400" "00166931" "05400" "00166932" "05400" "00166933" "05400" "00166934" "05400" "00166935" "05400" "00166936" "05400" "00166937" "05400" "00166938" "05400" "00166939" "00350" "00166940" "00350" "00166941" "00350" "00166942" "00350" "00166943" "00350" "00166944" "00350" "00166945" "00350" "00166946" "00350" "00166947" "00350" "00166948" "00350" "00166949" "00350" "00166950" "00350" "00166951" "05400" "00166952" "05400" "00166953" "05400" "00166954" "05400" "00166955" "05400" "00166956" "05400" "00166957" "05400" "00166958" "05400" "00166959" "05400" "00166960" "05400" "00166961" "05400" "00166962" "05400" "00166963" "05400" "00166964" "05400" "00166965" "05400" "00166966" "05400" "00166967" "05400" "00166968" "05400" "00166969" "05400" "00166970" "05400" "00166971" "05400" "00166972" "05400" "00166973" "05400" "00166974" "05400" "00166975" "05400" "00166976" "05400" "00166977" "00350" "00166978" "00350" "00166979" "00350" "00166980" "00350" "00166981" "00350" "00166982" "00350" "00166983" "00350" "00166984" "00000" "00166985" "00350" "00166986" "00350" "00166987" "00350" "00166988" "00350" "00166989" "00350" "00166990" "00350" "00166991" "00350" "00166992" "05400" "00166993" "05400" "00166994" "05400" "00166995" "05400" "00166996" "05400" "00166997" "05400" "00166998" "05400" "00166999" "05400" "00167000" "05400" "00167001" "05400" "00167002" "05400" "00167003" "05400" "00167004" "05400" "00167005" "05400" "00167006" "05400" "00167007" "05400" "00167008" "05400" "00167009" "05400" "00167010" "05400" "00167011" "05400" "00167012" "05400" "00167013" "00000" "00167014" "00000" "00167015" "05400" "00167016" "05400" "00167017" "05400" "00167018" "05400" "00167019" "05400" "00167020" "00000" "00167021" "05400" "00167022" "05400" "00167023" "05400" "00167024" "05400" "00167025" "05400" "00167026" "05400" "00167027" "05400" "00167028" "05400" "00167029" "05400" "00167030" "05400" "00167031" "05400" "00167032" "05400" "00167033" "05400" "00167034" "05400" "00167035" "05400" "00167036" "05400" "00167141" "05458" "00167160" "05400" "00167161" "05400" "00167162" "05400" "00167235" "05400" "00167241" "05400" "00167242" "05400" "00167243" "05400" "00167244" "05400" "00167245" "05400" "00167246" "05400" "00167247" "05400" "00167248" "05400" "00167249" "05400" "00167250" "05400" "00167251" "05400" "00167252" "05400" "00167293" "05400" "00168031" "05400" "00168032" "05400" "00265280" "05086" "00294882" "00198" "00327067" "05086" "00327068" "05086" "00327106" "05086" "00327107" "05086" "00327126" "05086" "00327144" "00350" "00327383" "05086" "00327389" "00350" "00331307" "05086" "00331308" "05086" "00359400" "05103" "00383282" "02330" "00384623" "00198" "00404084" "05086" "00404085" "05086" "00404086" "05086" "00404087" "05086" "00411190" "05086" "00411191" "05086" "00411192" "05086" "00411193" "05086" "00428679" "02330" "00441119" "05086" "00441415" "05086" "00441416" "05086" "00441417" "05086" "00441418" "05086" "00441419" "05086" "00441420" "05086" "00441421" "05086" "00441422" "05086" "00441423" "05086" "00441424" "05086" "00441425" "05086" "00441426" "05086" "00441427" "05086" "00441428" "05086" "00441429" "05086" "00441430" "05086" "00441462" "06877" "00441506" "05086" "00441629" "05086" "00441630" "05086" "00441631" "05086" "00441632" "05086" "00448249" "02330" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00350, 00531, 02330, 02596, 05086, 05103, 05400, 05458, 06877 ## Count = 186 "{{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}}" "0000045634" "02330" "00059045" "01542" "Familial, autosomal recessive" "" "congenital, profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000045635" "02330" "00059046" "01542" "Familial, autosomal recessive" "" "congenital, profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000045636" "02330" "00059047" "01542" "Familial, autosomal recessive" "" "congenital, profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000046728" "02330" "00060243" "01542" "Familial, autosomal recessive" "" "Congenital, profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046729" "02330" "00060244" "01542" "Familial, autosomal recessive" "" "Congenital, profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046742" "02330" "00060253" "01542" "Familial, autosomal recessive" "" "Congenital, profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046743" "02330" "00060254" "01542" "Familial, autosomal recessive" "" "Congenital, profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000131773" "05400" "00166909" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131774" "05400" "00166910" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131775" "05400" "00166911" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131776" "05400" "00166912" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131777" "05400" "00166913" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131778" "05400" "00166914" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131779" "05400" "00166915" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131780" "05400" "00166916" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131781" "05400" "00166917" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131782" "05400" "00166918" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131783" "05400" "00166919" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131784" "05400" "00166920" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131785" "05400" "00166921" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131786" "05400" "00166922" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131787" "05400" "00166923" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131788" "05400" "00166924" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131789" "05400" "00166925" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131790" "05400" "00166926" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131791" "05400" "00166927" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131792" "05400" "00166928" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131793" "05400" "00166929" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131794" "05400" "00166930" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131795" "05400" "00166931" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131796" "05400" "00166932" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131797" "05400" "00166933" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131798" "05400" "00166934" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131799" "05400" "00166935" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131800" "05400" "00166936" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131801" "05400" "00166937" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131802" "05400" "00166938" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131803" "00350" "00166939" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131804" "00350" "00166940" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131805" "00350" "00166941" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131806" "00350" "00166942" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131807" "00350" "00166943" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131808" "00350" "00166944" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131809" "00350" "00166945" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131810" "00350" "00166946" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131811" "00350" "00166947" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131812" "00350" "00166948" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131813" "00350" "00166949" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131814" "00350" "00166950" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131815" "05400" "00166951" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131816" "05400" "00166952" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131817" "05400" "00166953" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131818" "05400" "00166954" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131819" "05400" "00166955" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131820" "05400" "00166956" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131821" "05400" "00166957" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131822" "05400" "00166958" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131823" "05400" "00166959" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131824" "05400" "00166960" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131825" "05400" "00166961" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131826" "05400" "00166962" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131827" "05400" "00166963" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131828" "05400" "00166964" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131829" "05400" "00166965" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131830" "05400" "00166966" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131831" "05400" "00166967" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131832" "05400" "00166968" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131833" "05400" "00166969" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131834" "05400" "00166970" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131835" "05400" "00166971" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131836" "05400" "00166972" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131837" "05400" "00166973" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131838" "05400" "00166974" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131839" "05400" "00166975" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131840" "05400" "00166976" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131841" "00350" "00166977" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131842" "00350" "00166978" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131843" "00350" "00166979" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131844" "00350" "00166980" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131845" "00350" "00166981" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131846" "00350" "00166982" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131847" "00350" "00166983" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131848" "00000" "00166984" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "healthy" "" "0000131849" "00350" "00166985" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131850" "00350" "00166986" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131851" "00350" "00166987" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131852" "00350" "00166988" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131853" "00350" "00166989" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131854" "00350" "00166990" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131855" "00350" "00166991" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNA-36" "non-syndromic deafness" "" "0000131856" "05400" "00166992" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131857" "05400" "00166993" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131858" "05400" "00166994" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131859" "05400" "00166995" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131860" "05400" "00166996" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131861" "05400" "00166997" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131862" "05400" "00166998" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131863" "05400" "00166999" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131864" "05400" "00167000" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131865" "05400" "00167001" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131866" "05400" "00167002" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131867" "05400" "00167003" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131868" "05400" "00167004" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131869" "05400" "00167005" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131870" "05400" "00167006" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131871" "05400" "00167007" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131872" "05400" "00167008" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131873" "05400" "00167009" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131874" "05400" "00167010" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131875" "05400" "00167011" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131876" "05400" "00167012" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131877" "00000" "00167013" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000131878" "00000" "00167014" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000131879" "05400" "00167015" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131880" "05400" "00167016" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131881" "05400" "00167017" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131882" "05400" "00167018" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131883" "05400" "00167019" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131884" "00000" "00167020" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000131885" "05400" "00167021" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131886" "05400" "00167022" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131887" "05400" "00167023" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131888" "05400" "00167024" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131889" "05400" "00167025" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131890" "05400" "00167026" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131891" "05400" "00167027" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131892" "05400" "00167028" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131893" "05400" "00167029" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131894" "05400" "00167030" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131895" "05400" "00167031" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131896" "05400" "00167032" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131897" "05400" "00167033" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131898" "05400" "00167034" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131899" "05400" "00167035" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000131900" "05400" "00167036" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132005" "05458" "00167141" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132024" "05400" "00167160" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132025" "05400" "00167161" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132026" "05400" "00167162" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132099" "05400" "00167235" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132105" "05400" "00167241" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132106" "05400" "00167242" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132107" "05400" "00167243" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132108" "05400" "00167244" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132109" "05400" "00167245" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132110" "05400" "00167246" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132111" "05400" "00167247" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132112" "05400" "00167248" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132113" "05400" "00167249" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132114" "05400" "00167250" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132115" "05400" "00167251" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132116" "05400" "00167252" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132157" "05400" "00167293" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132895" "05400" "00168031" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132896" "05400" "00168032" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000203083" "05086" "00265280" "03388" "Familial, autosomal recessive" "07y?" "the patient was a seven-year-old female presenting with microcephaly, intellectual disability\r\n(mild mental retardation), bilateral sensorineural hearing loss and speech difficulty." "?" "07y?" "" "TMC1" "" "" "" "" "Non syndromic hearing loss" "Non syndromic hearing loss" "" "0000249501" "05086" "00331307" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000249502" "05086" "00331308" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000254659" "05103" "00359400" "03848" "Familial, autosomal recessive" "02y" "non-syndromic hearing loss" "0" "02y" "" "" "" "" "" "" "" "" "" "0000277068" "02330" "00383282" "00110" "Familial, autosomal recessive" "" "bilateral symmetric severe group one hearing loss" "" "03y" "" "" "" "" "" "" "" "" "" "0000278413" "00198" "00384623" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa (AR) and hearing loss (AR)" "" "" "" "" "" "" "" "" "Mixed" "Usher syndrome" "" "0000319584" "02330" "00428679" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0011474" "" "" "" "" "" "DNFB7" "Non-syndromic hearing impairment" "" "0000330559" "05086" "00441119" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330855" "05086" "00441415" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330856" "05086" "00441416" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330857" "05086" "00441417" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330858" "05086" "00441418" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330859" "05086" "00441419" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330860" "05086" "00441420" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330861" "05086" "00441421" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330862" "05086" "00441422" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330863" "05086" "00441423" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330864" "05086" "00441424" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330865" "05086" "00441425" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330866" "05086" "00441426" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330867" "05086" "00441427" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330868" "05086" "00441428" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330869" "05086" "00441429" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330870" "05086" "00441430" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330902" "06877" "00441462" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNA73" "autosomal dominant non-syndromic hearing loss" "" "0000330944" "05086" "00441506" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000331038" "05086" "00441629" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331039" "05086" "00441630" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331040" "05086" "00441631" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331041" "05086" "00441632" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000337459" "02330" "00448249" "04614" "Familial, autosomal recessive" "00y" "Bilateral sensorineural hearing impairment HP:0008619" "00y" "00y03m" "Congenital onset" "" "" "" "" "" "DFNB7" "hearing impairment" "" ## Screenings ## Do not remove or alter this header ## ## Count = 210 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059011" "00059045" "1" "01542" "01542" "2016-02-19 00:23:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059012" "00059046" "1" "01542" "01542" "2016-02-19 02:01:52" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059013" "00059047" "1" "01542" "01542" "2016-02-19 02:13:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059171" "00059188" "1" "01551" "01551" "2016-02-29 16:59:33" "00006" "2016-04-30 15:39:04" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059182" "00059199" "1" "01551" "01551" "2016-03-01 08:56:39" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059183" "00059200" "1" "01551" "01551" "2016-03-01 08:58:28" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059185" "00059202" "1" "01551" "01551" "2016-03-01 09:02:38" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060228" "00060243" "1" "01542" "01542" "2016-03-16 11:50:56" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060229" "00060244" "1" "01542" "01542" "2016-03-16 13:03:58" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060237" "00060253" "1" "01542" "01542" "2016-03-22 10:32:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060238" "00060254" "1" "01542" "01542" "2016-03-22 10:51:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060284" "00060295" "1" "00006" "00006" "2016-03-28 09:57:54" "" "" "SEQ" "DNA" "" "" "0000060285" "00060296" "1" "00006" "00006" "2016-03-28 10:09:32" "" "" "SEQ" "DNA" "" "" "0000080101" "00080022" "1" "01740" "01740" "2016-09-01 12:17:47" "" "" "SEQ-NG" "DNA" "" "" "0000167788" "00166909" "1" "02416" "02416" "2012-04-06 09:37:24" "00110" "2012-04-06 15:01:33" "SEQ" "DNA" "" "" "0000167789" "00166910" "1" "02416" "02416" "2012-04-06 11:08:25" "00110" "2012-04-06 15:01:33" "SEQ" "DNA" "" "" "0000167790" "00166911" "1" "02416" "02416" "2012-04-06 11:11:59" "00110" "2012-04-06 15:01:33" "SEQ" "DNA" "" "" "0000167791" "00166912" "1" "02416" "02416" "2012-04-06 11:13:35" "00110" "2012-04-06 15:01:33" "SEQ" "DNA" "" "" "0000167792" "00166913" "1" "02416" "02416" "2012-04-06 11:15:07" "00110" "2012-04-06 15:01:33" "SEQ" "DNA" "" "" "0000167793" "00166914" "1" "02416" "02416" "2012-04-06 11:29:44" "00110" "2012-04-25 10:07:36" "SEQ" "DNA" "" "" "0000167794" "00166915" "1" "02416" "02416" "2012-04-06 11:31:34" "00110" "2012-04-25 10:07:36" "SEQ" "DNA" "" "" "0000167795" "00166916" "1" "02416" "02416" "2012-04-06 11:32:49" "00110" "2012-04-25 10:07:36" "SEQ" "DNA" "" "" "0000167796" "00166917" "1" "02416" "02416" "2012-04-06 11:34:11" "00110" "2012-04-25 10:07:36" "SEQ" "DNA" "" "" "0000167797" "00166918" "1" "02416" "02416" "2012-04-06 11:45:51" "00110" "2012-04-26 12:28:17" "SEQ" "DNA" "" "" "0000167798" "00166919" "1" "02416" "02416" "2012-04-06 11:47:29" "00110" "2012-04-10 10:54:17" "SEQ" "DNA" "" "" "0000167799" "00166920" "1" "02416" "02416" "2012-04-06 11:48:36" "00110" "2012-04-10 10:54:17" "SEQ" "DNA" "" "" "0000167800" "00166921" "1" "02416" "02416" "2012-04-06 11:49:36" "00110" "2012-04-10 10:54:17" "SEQ" "DNA" "" "" "0000167801" "00166922" "1" "02416" "02416" "2012-04-06 11:50:37" "00110" "2012-04-10 10:54:17" "SEQ" "DNA" "" "" "0000167802" "00166923" "1" "02416" "02416" "2012-04-06 12:00:33" "00110" "2012-04-06 17:52:53" "SEQ" "DNA" "" "" "0000167803" "00166924" "1" "02416" "02416" "2012-04-06 12:02:14" "00110" "2012-04-06 17:52:53" "SEQ" "DNA" "" "" "0000167804" "00166925" "1" "02416" "02416" "2012-04-06 12:03:25" "00110" "2012-04-06 17:52:53" "SEQ" "DNA" "" "" "0000167805" "00166926" "1" "02416" "02416" "2012-04-06 12:04:31" "00110" "2012-04-06 17:52:53" "SEQ" "DNA" "" "" "0000167806" "00166927" "1" "02416" "02416" "2012-04-06 12:05:52" "00110" "2012-04-06 17:52:53" "SEQ" "DNA" "" "" "0000167807" "00166928" "1" "02416" "02416" "2012-04-06 12:08:56" "00110" "2012-04-06 17:52:53" "SEQ" "DNA" "" "" "0000167808" "00166929" "1" "02416" "02416" "2012-04-06 12:11:52" "00110" "2012-04-06 17:52:53" "SEQ" "DNA" "" "" "0000167809" "00166930" "1" "02416" "02416" "2012-04-06 12:13:00" "00110" "2012-04-06 17:52:53" "SEQ" "DNA" "" "" "0000167810" "00166931" "1" "02416" "02416" "2012-04-06 12:14:10" "00110" "2012-04-06 17:52:53" "SEQ" "DNA" "" "" "0000167811" "00166932" "1" "02416" "02416" "2012-04-06 12:16:02" "00110" "2012-04-06 17:52:53" "SEQ" "DNA" "" "" "0000167812" "00166933" "1" "02416" "02416" "2012-04-06 12:22:58" "00110" "2012-04-06 17:52:53" "SEQ" "DNA" "" "" "0000167813" "00166934" "1" "02416" "02416" "2012-04-06 14:22:18" "00110" "2012-04-11 11:41:43" "SEQ" "DNA" "" "" "0000167814" "00166935" "1" "02416" "02416" "2012-04-06 14:25:10" "00110" "2012-04-11 11:42:39" "SEQ" "DNA" "" "" "0000167815" "00166936" "1" "02416" "02416" "2012-04-06 14:26:40" "00110" "2012-04-11 11:47:47" "SEQ" "DNA" "" "" "0000167816" "00166937" "1" "02416" "02416" "2012-04-06 14:55:19" "00110" "2012-04-10 10:52:48" "SEQ" "DNA" "" "" "0000167817" "00166938" "1" "02416" "02416" "2012-04-06 15:03:36" "00110" "2012-04-11 14:56:29" "SEQ" "DNA" "" "" "0000167818" "00166939" "1" "02416" "02416" "2012-04-06 16:58:58" "00110" "2012-04-11 11:55:09" "SEQ" "DNA" "" "" "0000167819" "00166940" "1" "02416" "02416" "2012-04-06 17:02:31" "00110" "2012-04-11 12:00:40" "SEQ" "DNA" "" "" "0000167820" "00166941" "1" "02416" "02416" "2012-04-06 17:03:55" "00110" "2012-04-11 12:01:31" "SEQ" "DNA" "" "" "0000167821" "00166942" "1" "02416" "02416" "2012-04-06 17:05:34" "00110" "2012-04-11 12:02:13" "SEQ" "DNA" "" "" "0000167822" "00166943" "1" "02416" "02416" "2012-04-06 17:07:02" "00110" "2012-04-11 12:03:25" "SEQ" "DNA" "" "" "0000167823" "00166944" "1" "02416" "02416" "2012-04-06 17:08:28" "00110" "2012-04-11 12:11:31" "SEQ" "DNA" "" "" "0000167824" "00166945" "1" "02416" "02416" "2012-04-06 17:09:55" "00110" "2012-04-11 12:10:57" "SEQ" "DNA" "" "" "0000167825" "00166946" "1" "02416" "02416" "2012-04-06 17:11:32" "00110" "2012-04-11 12:10:28" "SEQ" "DNA" "" "" "0000167826" "00166947" "1" "02416" "02416" "2012-04-06 17:12:47" "00110" "2012-04-11 12:10:01" "SEQ" "DNA" "" "" "0000167827" "00166948" "1" "02416" "02416" "2012-04-06 17:14:07" "00110" "2012-04-11 12:09:34" "SEQ" "DNA" "" "" "0000167828" "00166949" "1" "02416" "02416" "2012-04-06 17:15:39" "00110" "2012-04-11 12:09:03" "SEQ" "DNA" "" "" "0000167829" "00166950" "1" "02416" "02416" "2012-04-06 17:17:20" "00110" "2012-04-11 12:08:39" "SEQ" "DNA" "" "" "0000167830" "00166951" "1" "02416" "02416" "2012-04-06 17:35:13" "00110" "2012-04-06 17:57:27" "SEQ" "DNA" "" "" "0000167831" "00166952" "1" "02416" "02416" "2012-04-06 17:37:13" "00110" "2012-04-06 17:57:55" "SEQ" "DNA" "" "" "0000167832" "00166953" "1" "02416" "02416" "2012-04-06 17:38:30" "00110" "2012-04-06 17:58:22" "SEQ" "DNA" "" "" "0000167833" "00166954" "1" "02416" "02416" "2012-04-06 17:39:42" "00110" "2012-04-06 17:58:47" "SEQ" "DNA" "" "" "0000167834" "00166955" "1" "02416" "02416" "2012-04-06 17:56:08" "00110" "2012-04-06 17:56:27" "SEQ" "DNA" "" "" "0000167835" "00166956" "1" "02416" "02416" "2012-04-06 18:05:21" "" "" "SEQ" "DNA" "" "" "0000167836" "00166957" "1" "02416" "02416" "2012-04-10 09:19:41" "00110" "2012-04-10 10:45:26" "SEQ" "DNA" "" "" "0000167837" "00166958" "1" "02416" "02416" "2012-04-10 09:21:26" "00110" "2012-04-10 10:45:26" "SEQ" "DNA" "" "" "0000167838" "00166959" "1" "02416" "02416" "2012-04-10 09:22:44" "00110" "2012-04-10 10:45:26" "SEQ" "DNA" "" "" "0000167839" "00166960" "1" "02416" "02416" "2012-04-10 09:33:14" "" "" "SEQ" "DNA" "" "" "0000167840" "00166961" "1" "02416" "02416" "2012-04-10 09:35:19" "" "" "SEQ" "DNA" "" "" "0000167841" "00166962" "1" "02416" "02416" "2012-04-10 09:37:21" "" "" "SEQ" "DNA" "" "" "0000167842" "00166963" "1" "02416" "02416" "2012-04-10 09:40:15" "" "" "SEQ" "DNA" "" "" "0000167843" "00166964" "1" "02416" "02416" "2012-04-10 09:48:41" "00110" "2012-04-11 11:50:42" "SEQ" "DNA" "" "" "0000167844" "00166965" "1" "02416" "02416" "2012-04-10 10:04:20" "00110" "2012-04-13 15:19:05" "SEQ" "DNA" "" "" "0000167845" "00166966" "1" "02416" "02416" "2012-04-10 10:15:22" "00110" "2012-04-25 10:08:53" "SEQ" "DNA" "" "" "0000167846" "00166967" "1" "02416" "02416" "2012-04-10 10:27:07" "00110" "2012-04-11 11:57:51" "SEQ" "DNA" "" "" "0000167847" "00166968" "1" "02416" "02416" "2012-04-10 11:24:08" "00110" "2013-02-14 16:46:02" "SEQ" "DNA" "" "" "0000167848" "00166969" "1" "02416" "02416" "2012-04-10 11:40:18" "00110" "2013-02-14 16:46:02" "SEQ" "DNA" "" "" "0000167849" "00166970" "1" "02416" "02416" "2012-04-10 11:43:43" "00110" "2013-02-14 16:46:02" "SEQ" "DNA" "" "" "0000167850" "00166971" "1" "02416" "02416" "2012-04-10 11:47:19" "00110" "2013-02-14 16:46:02" "SEQ" "DNA" "" "" "0000167851" "00166972" "1" "02416" "02416" "2012-04-10 11:49:26" "00110" "2013-02-14 16:46:02" "SEQ" "DNA" "" "" "0000167852" "00166973" "1" "02416" "02416" "2012-04-10 11:56:11" "00110" "2012-04-25 10:04:39" "SEQ" "DNA" "" "" "0000167853" "00166974" "1" "02416" "02416" "2012-04-10 12:06:56" "00110" "2012-04-11 11:51:44" "SEQ" "DNA" "" "" "0000167854" "00166975" "1" "02416" "02416" "2012-04-10 12:16:10" "00110" "2012-04-11 11:52:32" "SEQ" "DNA" "" "" "0000167855" "00166976" "1" "02416" "02416" "2012-04-10 12:19:15" "00110" "2012-04-11 11:53:15" "SEQ" "DNA" "" "" "0000167856" "00166977" "1" "02416" "02416" "2012-04-10 14:16:14" "00110" "2012-04-11 11:56:09" "SEQ" "DNA" "" "" "0000167857" "00166978" "1" "02416" "02416" "2012-04-10 14:19:15" "00110" "2012-04-11 11:56:58" "SEQ" "DNA" "" "" "0000167858" "00166979" "1" "02416" "02416" "2012-04-10 14:20:59" "00110" "2012-04-11 11:56:58" "SEQ" "DNA" "" "" "0000167859" "00166980" "1" "02416" "02416" "2012-04-10 14:22:22" "00110" "2012-04-11 11:56:58" "SEQ" "DNA" "" "" "0000167860" "00166981" "1" "02416" "02416" "2012-04-10 14:23:44" "00110" "2012-04-11 11:56:58" "SEQ" "DNA" "" "" "0000167861" "00166982" "1" "02416" "02416" "2012-04-10 14:25:10" "00110" "2012-04-11 11:56:58" "SEQ" "DNA" "" "" "0000167862" "00166983" "1" "02416" "02416" "2012-04-10 14:53:48" "00110" "2012-04-11 12:08:11" "SEQ" "DNA" "" "" "0000167863" "00166984" "1" "02416" "02416" "2012-04-10 14:58:38" "00110" "2012-04-11 12:07:42" "SEQ" "DNA" "" "" "0000167864" "00166985" "1" "02416" "02416" "2012-04-10 15:01:51" "00110" "2012-04-11 12:07:10" "SEQ" "DNA" "" "" "0000167865" "00166986" "1" "02416" "02416" "2012-04-10 15:03:14" "00110" "2012-04-11 12:05:38" "SEQ" "DNA" "" "" "0000167866" "00166987" "1" "02416" "02416" "2012-04-10 15:04:37" "00110" "2012-04-11 12:05:03" "SEQ" "DNA" "" "" "0000167867" "00166988" "1" "02416" "02416" "2012-04-10 15:06:45" "00110" "2012-04-11 12:04:10" "SEQ" "DNA" "" "" "0000167868" "00166989" "1" "02416" "02416" "2012-04-10 15:09:10" "00110" "2012-04-11 12:04:10" "SEQ" "DNA" "" "" "0000167869" "00166990" "1" "02416" "02416" "2012-04-10 15:10:34" "00110" "2012-04-11 12:04:10" "SEQ" "DNA" "" "" "0000167870" "00166991" "1" "02416" "02416" "2012-04-10 15:12:39" "00110" "2012-04-11 12:04:10" "SEQ" "DNA" "" "" "0000167871" "00166992" "1" "02416" "02416" "2012-04-10 16:43:12" "" "" "SEQ" "DNA" "" "" "0000167872" "00166993" "1" "02416" "02416" "2012-04-10 16:48:45" "00110" "2012-04-11 11:35:33" "SEQ" "DNA" "" "" "0000167873" "00166994" "1" "02416" "02416" "2012-04-10 16:57:25" "00110" "2014-02-06 16:05:05" "SEQ" "DNA" "" "" "0000167874" "00166995" "1" "02416" "02416" "2012-04-10 16:59:14" "00110" "2014-02-06 16:04:32" "SEQ" "DNA" "" "" "0000167875" "00166996" "1" "02416" "02416" "2012-04-10 17:03:51" "00110" "2012-04-11 11:48:42" "SEQ" "DNA" "" "" "0000167876" "00166997" "1" "02416" "02416" "2012-04-10 17:09:19" "00110" "2012-04-11 11:58:57" "SEQ" "DNA" "" "" "0000167877" "00166998" "1" "02416" "02416" "2012-04-10 17:10:46" "00110" "2012-04-11 11:58:57" "SEQ" "DNA" "" "" "0000167878" "00166999" "1" "02416" "02416" "2012-04-10 17:16:33" "00110" "2012-04-11 12:12:21" "SEQ" "DNA" "" "" "0000167879" "00167000" "1" "02416" "02416" "2012-04-10 17:22:29" "00110" "2012-04-11 11:59:43" "SEQ" "DNA" "" "" "0000167880" "00167001" "1" "02416" "02416" "2012-04-10 18:08:31" "00110" "2012-04-25 10:10:29" "SEQ" "DNA" "" "" "0000167881" "00167002" "1" "02416" "02416" "2012-04-10 18:10:16" "00110" "2012-04-25 10:10:29" "SEQ" "DNA" "" "" "0000167882" "00167003" "1" "02416" "02416" "2012-04-11 10:08:07" "00110" "2012-04-11 11:47:18" "SEQ" "DNA" "" "" "0000167883" "00167004" "1" "02416" "02416" "2012-04-11 10:12:32" "00110" "2012-04-11 11:46:36" "SEQ" "DNA" "" "" "0000167884" "00167005" "1" "02416" "02416" "2012-04-11 10:31:18" "00110" "2012-04-11 11:46:08" "SEQ" "DNA" "" "" "0000167885" "00167006" "1" "02416" "02416" "2012-04-11 10:35:47" "00110" "2012-04-11 12:18:44" "SEQ" "DNA" "" "" "0000167886" "00167007" "1" "02416" "02416" "2012-04-11 11:10:29" "00110" "2012-04-11 11:25:40" "SEQ" "DNA" "" "" "0000167887" "00167008" "1" "02416" "02416" "2012-04-11 11:16:45" "00110" "2012-04-11 11:34:23" "SEQ" "DNA" "" "" "0000167888" "00167009" "1" "02416" "02416" "2012-04-11 11:29:25" "" "" "SEQ" "DNA" "" "" "0000167889" "00167010" "1" "02416" "02416" "2012-04-11 11:32:35" "" "" "SEQ" "DNA" "" "" "0000167890" "00167011" "1" "02416" "02416" "2012-04-11 14:40:10" "" "" "SEQ" "DNA" "" "" "0000167891" "00167012" "1" "02416" "02416" "2012-04-11 14:59:37" "00110" "2012-04-25 10:09:45" "SEQ" "DNA" "" "" "0000167892" "00167013" "1" "02416" "02416" "2012-04-11 15:05:23" "00110" "2014-02-06 16:07:46" "SEQ" "DNA" "" "" "0000167893" "00167014" "1" "02416" "02416" "2012-04-11 15:11:08" "" "" "SEQ" "DNA" "" "" "0000167894" "00167015" "1" "02416" "02416" "2012-04-11 15:13:39" "" "" "SEQ" "DNA" "" "" "0000167895" "00167016" "1" "02416" "02416" "2012-04-11 15:21:32" "00110" "2012-04-25 10:06:23" "SEQ" "DNA" "" "" "0000167896" "00167017" "1" "02416" "02416" "2012-04-11 15:24:40" "00110" "2012-04-25 10:07:01" "SEQ" "DNA" "" "" "0000167897" "00167018" "1" "02416" "02416" "2012-04-11 16:34:52" "00110" "2012-04-11 17:19:32" "SEQ" "DNA" "" "" "0000167898" "00167019" "1" "02416" "02416" "2012-04-11 17:23:06" "00110" "2012-04-25 10:08:13" "SEQ" "DNA" "" "" "0000167899" "00167020" "1" "02416" "02416" "2012-04-11 17:17:24" "00110" "2012-04-25 10:05:24" "SEQ" "DNA" "" "" "0000167900" "00167021" "1" "02416" "02416" "2012-04-11 17:53:23" "00110" "2012-04-25 10:07:36" "SEQ" "DNA" "" "" "0000167901" "00167022" "1" "02416" "02416" "2012-04-11 17:59:26" "00110" "2012-04-20 17:01:14" "SEQ" "DNA" "" "" "0000167902" "00167023" "1" "02416" "02416" "2012-04-12 11:05:45" "00110" "2012-04-20 17:06:15" "SEQ-NG-S" "DNA" "" "" "0000167903" "00167024" "1" "02416" "02416" "2012-04-12 11:07:54" "00110" "2012-04-20 17:12:05" "SEQ-NG-S" "DNA" "" "" "0000167904" "00167025" "1" "02416" "02416" "2012-04-12 11:09:58" "00110" "2012-04-20 17:12:05" "SEQ-NG-S" "DNA" "" "" "0000167905" "00167026" "1" "02416" "02416" "2012-04-12 11:11:57" "00110" "2012-04-20 17:12:05" "SEQ-NG-S" "DNA" "" "" "0000167906" "00167027" "1" "02416" "02416" "2012-04-12 11:16:55" "00110" "2012-04-20 16:56:38" "SEQ-NG-S" "DNA" "" "" "0000167907" "00167028" "1" "02416" "02416" "2012-04-12 11:22:54" "00110" "2012-04-20 16:57:57" "SEQ-NG-S" "DNA" "" "" "0000167908" "00167029" "1" "02416" "02416" "2012-04-18 12:15:02" "" "" "SEQ" "DNA" "" "" "0000167909" "00167030" "1" "02416" "02416" "2012-04-19 17:48:10" "" "" "SEQ" "DNA" "" "" "0000167910" "00167031" "1" "02416" "02416" "2012-04-19 17:49:41" "" "" "SEQ" "DNA" "" "" "0000167911" "00167032" "1" "02416" "02416" "2012-04-19 17:51:11" "" "" "SEQ" "DNA" "" "" "0000167912" "00167033" "1" "02416" "02416" "2012-04-19 17:53:45" "" "" "SEQ" "DNA" "" "" "0000167913" "00167034" "1" "02416" "02416" "2012-04-19 17:59:11" "" "" "SEQ" "DNA" "" "" "0000167914" "00167035" "1" "02416" "02416" "2012-04-20 10:59:44" "00110" "2012-04-20 17:03:17" "SEQ" "DNA" "" "" "0000167915" "00167036" "1" "02416" "02416" "2012-04-20 11:11:56" "00110" "2012-04-20 16:54:36" "PCRdig" "DNA" "" "" "0000168020" "00167141" "1" "02416" "02416" "2013-02-11 12:22:50" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168039" "00167160" "1" "02416" "02416" "2013-06-26 17:23:26" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168040" "00167161" "1" "02416" "02416" "2013-06-26 17:27:08" "00110" "2013-06-26 17:27:50" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168041" "00167162" "1" "02416" "02416" "2013-06-26 17:33:12" "00110" "2013-06-26 17:33:51" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168114" "00167235" "1" "02416" "02416" "2013-12-30 15:48:36" "00110" "2014-01-27 09:25:56" "SEQ" "DNA" "" "" "0000168120" "00167241" "1" "02416" "02416" "2014-02-06 15:38:09" "00110" "2014-02-06 15:38:29" "SEQ" "DNA" "" "" "0000168121" "00167242" "1" "02416" "02416" "2014-02-06 15:40:00" "00110" "2014-02-06 15:40:16" "SEQ" "DNA" "" "" "0000168122" "00167243" "1" "02416" "02416" "2014-02-06 15:41:26" "00110" "2014-02-06 15:41:45" "SEQ" "DNA" "" "" "0000168123" "00167244" "1" "02416" "02416" "2014-02-06 15:45:26" "00110" "2014-02-06 15:48:48" "SEQ" "DNA" "" "" "0000168124" "00167245" "1" "02416" "02416" "2014-02-06 15:47:34" "00110" "2014-02-06 15:48:48" "SEQ" "DNA" "" "" "0000168125" "00167246" "1" "02416" "02416" "2014-02-06 15:54:36" "00110" "2014-02-06 15:56:24" "SEQ" "DNA" "" "" "0000168126" "00167247" "1" "02416" "02416" "2014-02-06 15:56:05" "" "" "SEQ" "DNA" "" "" "0000168127" "00167248" "1" "02416" "02416" "2014-02-06 15:59:10" "" "" "SEQ" "DNA" "" "" "0000168128" "00167249" "1" "02416" "02416" "2014-02-06 16:00:52" "" "" "SEQ" "DNA" "" "" "0000168129" "00167250" "1" "02416" "02416" "2014-02-06 16:02:50" "" "" "SEQ" "DNA" "" "" "0000168130" "00167251" "1" "02416" "02416" "2014-02-06 16:04:07" "00110" "2014-02-06 16:06:59" "SEQ" "DNA" "" "" "0000168131" "00167252" "1" "02416" "02416" "2014-02-06 16:06:35" "" "" "SEQ" "DNA" "" "" "0000168172" "00167293" "1" "02416" "02416" "2014-02-14 10:30:17" "00110" "2014-02-25 11:05:13" "SEQ" "DNA" "" "" "0000168910" "00168031" "1" "02416" "02416" "2017-08-16 10:38:13" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168911" "00168032" "1" "02416" "02416" "2017-08-16 10:44:04" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000266399" "00265280" "1" "03388" "03388" "2019-09-19 06:43:46" "" "" "microscope;PCR;SEQ-NG" "DNA" "Blood" "WES" "0000296050" "00294882" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328281" "00327067" "1" "03611" "03611" "2021-01-20 03:45:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000328282" "00327068" "1" "03611" "03611" "2021-01-20 03:47:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000328319" "00327106" "1" "03611" "03611" "2021-01-20 07:31:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000328320" "00327107" "1" "03611" "03611" "2021-01-20 07:33:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000328338" "00327126" "1" "03611" "03611" "2021-01-20 08:00:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000328356" "00327144" "1" "03611" "03611" "2021-01-20 08:25:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000328595" "00327383" "1" "03611" "03611" "2021-01-20 09:12:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000328601" "00327389" "1" "03611" "03611" "2021-01-20 09:21:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000332526" "00331307" "1" "00000" "00006" "2021-02-11 11:56:16" "" "" "SEQ" "DNA" "" "" "0000332527" "00331308" "1" "00000" "00006" "2021-02-11 11:56:16" "" "" "SEQ" "DNA" "" "" "0000360642" "00359400" "1" "03848" "03848" "2021-03-20 15:03:04" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000384506" "00383282" "1" "00110" "00110" "2021-09-28 17:12:39" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "" "0000385851" "00384623" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000405321" "00404084" "1" "03194" "03194" "2022-02-26 15:58:49" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000405322" "00404085" "1" "03194" "03194" "2022-02-26 16:10:31" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000405323" "00404086" "1" "03194" "03194" "2022-02-26 16:19:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000405324" "00404087" "1" "03194" "03194" "2022-02-26 16:34:09" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000412455" "00411190" "1" "00006" "00006" "2022-06-06 21:00:33" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000412456" "00411191" "1" "00006" "00006" "2022-06-06 21:02:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000412457" "00411192" "1" "00006" "00006" "2022-06-06 21:04:11" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000412458" "00411193" "1" "00006" "00006" "2022-06-06 21:05:35" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000430092" "00428679" "1" "04147" "04147" "2023-01-06 16:07:44" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000442604" "00441119" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442901" "00441415" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442902" "00441416" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442903" "00441417" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442904" "00441418" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442905" "00441419" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442906" "00441420" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442907" "00441421" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442908" "00441422" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442909" "00441423" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442910" "00441424" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442911" "00441425" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442912" "00441426" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442913" "00441427" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442914" "00441428" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442915" "00441429" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442916" "00441430" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442948" "00441462" "1" "00006" "00006" "2023-11-07 19:25:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442992" "00441506" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443115" "00441629" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443116" "00441630" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443117" "00441631" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443118" "00441632" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449824" "00448249" "1" "04614" "04614" "2024-02-24 18:02:32" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000059171" "PDZD7" "0000059171" "TECTA" "0000059171" "TMC1" "0000059182" "TMC1" "0000059183" "TMC1" "0000059185" "TMC1" "0000060284" "TMC1" "0000060285" "TMC1" "0000266399" "TMC1" "0000332526" "TMC1" "0000332527" "TMC1" "0000360642" "A2M" "0000385851" "FAM161A" ## 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 = 443 "{{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}}" "0000089808" "3" "90" "9" "75263579" "75263579" "dup" "0" "01542" "TMC1_000076" "g.75263579dup" "" "" "" "10dupA" "" "Germline" "yes" "" "0" "" "" "g.72648663dup" "" "pathogenic" "" "0000089809" "3" "90" "9" "75309623" "75309623" "del" "0" "01542" "TMC1_000101" "g.75309623del" "" "" "" "" "1/29 druze controls (het)" "Germline" "yes" "" "0" "" "" "g.72694707del" "" "pathogenic" "" "0000089810" "21" "90" "9" "75369733" "75369733" "subst" "4.46955E-5" "01542" "TMC1_000077" "g.75369733C>T" "" "" "" "" "not in 266 controls" "Germline" "yes" "" "0" "" "" "g.72754817C>T" "" "pathogenic" "" "0000089811" "11" "90" "9" "75435804" "75435804" "subst" "8.12599E-6" "01542" "TMC1_000001" "g.75435804C>T" "8/158 patients het" "" "" "" "0/128 controls" "Germline" "yes" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000090009" "0" "50" "9" "75357364" "75357364" "subst" "4.06527E-6" "01551" "TMC1_000078" "g.75357364G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.72742448G>A" "" "VUS" "" "0000090010" "0" "50" "9" "75357442" "75357442" "subst" "0" "01551" "TMC1_000079" "g.75357442G>C" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.72742526G>C" "" "VUS" "" "0000090013" "0" "50" "9" "75404150" "75404150" "subst" "2.43809E-5" "01551" "TMC1_000080" "g.75404150T>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.72789234T>A" "" "VUS" "" "0000090014" "0" "50" "9" "75404234" "75404234" "subst" "4.0622E-6" "01551" "TMC1_000081" "g.75404234G>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.72789318G>T" "" "VUS" "" "0000091217" "11" "90" "9" "75435804" "75435804" "subst" "8.12599E-6" "01542" "TMC1_000001" "g.75435804C>T" "8/168 cases (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "not in 128 controls" "Germline" "yes" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000091218" "21" "90" "9" "75435933" "75435933" "subst" "2.03069E-5" "01542" "TMC1_000039" "g.75435933T>C" "13/168 cases (hom), 9/168 cases (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "found in 16/282 controls (het)" "Germline" "yes" "" "0" "" "" "g.72821017T>C" "" "pathogenic" "" "0000091219" "3" "90" "9" "75435933" "75435933" "subst" "2.03069E-5" "01542" "TMC1_000039" "g.75435933T>C" "13/168 cases (hom), 9/168 cases (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "found in 16/282 controls (het)" "Germline" "yes" "" "0" "" "" "g.72821017T>C" "" "pathogenic" "" "0000091233" "21" "90" "9" "75404174" "75404174" "subst" "5.68796E-5" "01542" "TMC1_000005" "g.75404174C>T" "3/168 cases (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "" "Germline" "yes" "" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000091234" "11" "90" "9" "75435933" "75435933" "subst" "2.03069E-5" "01542" "TMC1_000039" "g.75435933T>C" "13/168 cases (hom), 9/168 cases (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "found in 16/282 controls (het)" "Germline" "yes" "" "0" "" "" "g.72821017T>C" "" "pathogenic" "" "0000091235" "11" "90" "9" "75404219" "75404219" "subst" "0" "01542" "TMC1_000040" "g.75404219T>C" "2/168 cases (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "" "Germline" "yes" "" "0" "" "" "g.72789303T>C" "" "pathogenic" "" "0000091236" "21" "90" "9" "75435933" "75435933" "subst" "2.03069E-5" "01542" "TMC1_000039" "g.75435933T>C" "13/168 cases (hom), 9/168 cases (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "16/282 heterozygous hearing controls" "Germline" "yes" "" "0" "" "" "g.72821017T>C" "" "pathogenic" "" "0000091304" "1" "90" "9" "75435933" "75435933" "subst" "2.03069E-5" "00006" "TMC1_000039" "g.75435933T>C" "16/282 controls" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "" "Germline" "" "" "0" "" "" "g.72821017T>C" "" "pathogenic" "" "0000091305" "1" "90" "9" "75309623" "75309623" "del" "0" "00006" "TMC1_000101" "g.75309623del" "1/29 controls" "" "" "" "" "Germline" "" "" "0" "" "" "g.72694707del" "" "pathogenic" "" "0000096178" "0" "50" "9" "75369733" "75369733" "subst" "4.46955E-5" "01551" "TMC1_000077" "g.75369733C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.72754817C>T" "" "VUS" "" "0000096179" "0" "90" "9" "75435758" "75435758" "subst" "1.21956E-5" "01551" "TMC1_000042" "g.75435758G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "rs18259073" "0" "" "" "g.72820842G>A" "" "pathogenic" "" "0000128976" "1" "70" "9" "75369705" "75369705" "del" "0" "01740" "TMC1_000082" "g.75369705del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.72754789del" "" "likely pathogenic" "" "0000128977" "2" "70" "9" "75387377" "75387377" "subst" "1.21903E-5" "01740" "TMC1_000083" "g.75387377C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.72772461C>T" "" "likely pathogenic" "" "0000255691" "0" "90" "9" "75431129" "75431129" "subst" "0.000593366" "01943" "TMC1_000085" "g.75431129A>G" "" "" "" "TMC1(NM_138691.2):c.1763+3A>G, TMC1(NM_138691.3):c.1763+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72816213A>G" "" "pathogenic" "" "0000316652" "0" "50" "9" "75435840" "75435840" "subst" "4.06283E-5" "01943" "TMC1_000086" "g.75435840G>A" "" "" "" "TMC1(NM_138691.2):c.1846G>A (p.V616I), TMC1(NM_138691.3):c.1846G>A (p.(Val616Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72820924G>A" "" "VUS" "" "0000316653" "0" "30" "9" "75369755" "75369755" "subst" "0.000142208" "01943" "TMC1_000084" "g.75369755C>T" "" "" "" "TMC1(NM_138691.2):c.696C>T (p.A232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72754839C>T" "" "likely benign" "" "0000338699" "0" "10" "9" "75136789" "75136789" "subst" "0" "02327" "TMC1_000087" "g.75136789G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72521873G>A" "" "benign" "" "0000338700" "0" "10" "9" "75231370" "75231370" "subst" "0" "02327" "TMC1_000088" "g.75231370A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72616454A>G" "" "benign" "" "0000338701" "0" "90" "9" "75366765" "75366765" "subst" "4.0653E-6" "02327" "TMC1_000092" "g.75366765G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72751849G>A" "" "pathogenic" "" "0000340432" "0" "10" "9" "75431076" "75431076" "subst" "0.0890638" "02327" "TMC1_000098" "g.75431076C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72816160C>T" "" "benign" "" "0000340715" "0" "10" "9" "75303653" "75303653" "subst" "0.449438" "02327" "TMC1_000089" "g.75303653C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72688737C>T" "" "benign" "" "0000341290" "0" "50" "9" "75369768" "75369768" "subst" "0" "02327" "TMC1_000094" "g.75369768G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72754852G>A" "" "VUS" "" "0000342463" "0" "90" "9" "75387377" "75387377" "subst" "1.21903E-5" "02327" "TMC1_000083" "g.75387377C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72772461C>T" "" "pathogenic" "" "0000342679" "0" "90" "9" "75309494" "75309494" "subst" "6.54563E-5" "02327" "TMC1_000090" "g.75309494C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000342913" "0" "70" "9" "75406910" "75406910" "subst" "6.50227E-5" "02327" "TMC1_000095" "g.75406910C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72791994C>T" "" "likely pathogenic" "" "0000343034" "0" "90" "9" "75407236" "75407236" "subst" "0.000357628" "02327" "TMC1_000097" "g.75407236C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72792320C>T" "" "pathogenic" "" "0000344140" "0" "70" "9" "75431077" "75431077" "subst" "0" "02327" "TMC1_000099" "g.75431077G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72816161G>A" "" "likely pathogenic" "" "0000345565" "0" "10" "9" "75315438" "75315438" "subst" "0.240348" "02327" "TMC1_000091" "g.75315438G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72700522G>A" "" "benign" "" "0000347852" "0" "10" "9" "75407159" "75407159" "subst" "0.0238971" "02327" "TMC1_000096" "g.75407159T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72792243T>C" "" "benign" "" "0000347870" "0" "90" "9" "75431129" "75431129" "subst" "0.000593366" "02327" "TMC1_000085" "g.75431129A>G" "" "" "" "TMC1(NM_138691.2):c.1763+3A>G, TMC1(NM_138691.3):c.1763+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72816213A>G" "" "pathogenic" "" "0000347973" "0" "30" "9" "75366773" "75366773" "subst" "8.12843E-6" "02327" "TMC1_000093" "g.75366773T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72751857T>G" "" "likely benign" "" "0000350181" "0" "50" "9" "75445381" "75445381" "subst" "0.000357726" "02327" "TMC1_000100" "g.75445381A>T" "" "" "" "TMC1(NM_138691.2):c.2144A>T (p.Y715F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72830465A>T" "" "VUS" "" "0000373519" "10" "99" "9" "75435804" "75435804" "subst" "8.12599E-6" "02416" "TMC1_000001" "g.75435804C>T" "" "{PMID:Hilgert 2008:18616530}" "-HpyAV;-TaqI;" "2350C>T p.R604X" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000373520" "10" "99" "9" "75435804" "75435804" "subst" "8.12599E-6" "02416" "TMC1_000001" "g.75435804C>T" "" "{PMID:Hilgert 2008:18616530}" "-HpyAV;-TaqI;" "2350C>T p.R604X" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000373521" "10" "99" "9" "75435804" "75435804" "subst" "8.12599E-6" "02416" "TMC1_000001" "g.75435804C>T" "" "{PMID:Hilgert 2008:18616530}" "-HpyAV;-TaqI;" "2350C>T p.R604X" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000373522" "10" "99" "9" "75435804" "75435804" "subst" "8.12599E-6" "02416" "TMC1_000001" "g.75435804C>T" "" "{PMID:Hilgert 2008:18616530}" "-HpyAV;-TaqI;" "2350C>T p.R604X" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000373523" "10" "99" "9" "75435804" "75435804" "subst" "8.12599E-6" "02416" "TMC1_000001" "g.75435804C>T" "" "{PMID:Hilgert 2008:18616530}" "-HpyAV;-TaqI;" "2350C>T p.R604X" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000373524" "20" "99" "9" "75435804" "75435804" "subst" "8.12599E-6" "02416" "TMC1_000001" "g.75435804C>T" "" "{PMID:Hilgert 2008:18616530}" "-HpyAV;-TaqI;" "2350C>T p.R604X" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000373525" "20" "99" "9" "75435804" "75435804" "subst" "8.12599E-6" "02416" "TMC1_000001" "g.75435804C>T" "" "{PMID:Hilgert 2008:18616530}" "-HpyAV;-TaqI;" "2350C>T p.R604X" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000373526" "20" "99" "9" "75435804" "75435804" "subst" "8.12599E-6" "02416" "TMC1_000001" "g.75435804C>T" "" "{PMID:Hilgert 2008:18616530}" "-HpyAV;-TaqI;" "2350C>T p.R604X" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000373527" "20" "99" "9" "75435804" "75435804" "subst" "8.12599E-6" "02416" "TMC1_000001" "g.75435804C>T" "" "{PMID:Hilgert 2008:18616530}" "-HpyAV;-TaqI;" "2350C>T p.R604X" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000373528" "20" "99" "9" "75435804" "75435804" "subst" "8.12599E-6" "02416" "TMC1_000001" "g.75435804C>T" "" "{PMID:Hilgert 2008:18616530}" "-HpyAV;-TaqI;" "2350C>T p.R604X" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000373529" "11" "99" "9" "75435804" "75435804" "subst" "8.12599E-6" "02416" "TMC1_000001" "g.75435804C>T" "0/256 controls" "{PMID:Brownstein 2011:21917145}" "-HpyAV;-TaqI;" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic" "" "0000373530" "10" "99" "9" "75309631" "75309631" "subst" "1.73575E-5" "02416" "TMC1_000002" "g.75309631G>A" "0/200 controls" "{PMID:Hilgert 2008:18616530}" "none" "776+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72694715G>A" "" "pathogenic" "" "0000373531" "10" "99" "9" "75309631" "75309631" "subst" "1.73575E-5" "02416" "TMC1_000002" "g.75309631G>A" "0/200 controls" "{PMID:Hilgert 2008:18616530}" "none" "776+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72694715G>A" "" "pathogenic" "" "0000373532" "10" "99" "9" "75309631" "75309631" "subst" "1.73575E-5" "02416" "TMC1_000002" "g.75309631G>A" "0/200 controls" "{PMID:Hilgert 2008:18616530}" "none" "776+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72694715G>A" "" "pathogenic" "" "0000373533" "10" "99" "9" "75309631" "75309631" "subst" "1.73575E-5" "02416" "TMC1_000002" "g.75309631G>A" "0/200 controls" "{PMID:Hilgert 2008:18616530}" "none" "776+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72694715G>A" "" "pathogenic" "" "0000373534" "20" "99" "9" "75309631" "75309631" "subst" "1.73575E-5" "02416" "TMC1_000002" "g.75309631G>A" "0/200 controls" "{PMID:Hilgert 2008:18616530}" "none" "776+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72694715G>A" "" "pathogenic" "" "0000373535" "20" "99" "9" "75309631" "75309631" "subst" "1.73575E-5" "02416" "TMC1_000002" "g.75309631G>A" "0/200 controls" "{PMID:Hilgert 2008:18616530}" "none" "776+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72694715G>A" "" "pathogenic" "" "0000373536" "20" "99" "9" "75309631" "75309631" "subst" "1.73575E-5" "02416" "TMC1_000002" "g.75309631G>A" "0/200 controls" "{PMID:Hilgert 2008:18616530}" "none" "776+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72694715G>A" "" "pathogenic" "" "0000373537" "20" "99" "9" "75309631" "75309631" "subst" "1.73575E-5" "02416" "TMC1_000002" "g.75309631G>A" "0/200 controls" "{PMID:Hilgert 2008:18616530}" "none" "776+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72694715G>A" "" "pathogenic" "" "0000373538" "10" "55" "9" "75309631" "75309631" "subst" "1.73575E-5" "02416" "TMC1_000002" "g.75309631G>A" "0/200 controls" "{PMID:Hildebrand 2010:21250555}" "none" "776+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72694715G>A" "" "VUS" "" "0000373539" "20" "55" "9" "75309631" "75309631" "subst" "1.73575E-5" "02416" "TMC1_000002" "g.75309631G>A" "0/200 controls" "{PMID:Hildebrand 2010:21250555}" "none" "776+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72694715G>A" "" "VUS" "" "0000373540" "10" "55" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000003" "g.75231331A>C" "0/400 controls" "{PMID:Hilgert 2008:18616530}" "+DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI" "g.94615A>C" "homozygous; pathogenicity unclear, segregates with the disease" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "VUS" "" "0000373541" "10" "55" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000003" "g.75231331A>C" "0/400 controls" "{PMID:Hilgert 2008:18616530}" "+DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI" "g.94615A>C" "homozygous; pathogenicity unclear, segregates with the disease" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "VUS" "" "0000373542" "10" "55" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000003" "g.75231331A>C" "0/400 controls" "{PMID:Hilgert 2008:18616530}" "+DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI" "g.94615A>C" "homozygous; pathogenicity unclear, segregates with the disease" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "VUS" "" "0000373543" "10" "55" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000003" "g.75231331A>C" "0/400 controls" "{PMID:Hilgert 2008:18616530}" "+DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI" "g.94615A>C" "homozygous; pathogenicity unclear, segregates with the disease" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "VUS" "" "0000373544" "10" "55" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000003" "g.75231331A>C" "0/400 controls" "{PMID:Hilgert 2008:18616530}" "+DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI" "g.94615A>C" "homozygous; pathogenicity unclear, segregates with the disease" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "VUS" "" "0000373545" "20" "55" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000003" "g.75231331A>C" "0/400 controls" "{PMID:Hilgert 2008:18616530}" "+DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI" "g.94615A>C" "homozygous; pathogenicity unclear, segregates with the disease" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "VUS" "" "0000373546" "20" "55" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000003" "g.75231331A>C" "0/400 controls" "{PMID:Hilgert 2008:18616530}" "+DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI" "g.94615A>C" "homozygous; pathogenicity unclear, segregates with the disease" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "VUS" "" "0000373547" "20" "55" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000003" "g.75231331A>C" "0/400 controls" "{PMID:Hilgert 2008:18616530}" "+DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI" "g.94615A>C" "homozygous; pathogenicity unclear, segregates with the disease" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "VUS" "" "0000373548" "20" "55" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000003" "g.75231331A>C" "0/400 controls" "{PMID:Hilgert 2008:18616530}" "+DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI" "g.94615A>C" "homozygous; pathogenicity unclear, segregates with the disease" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "pathogenic" "" "0000373549" "20" "55" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000003" "g.75231331A>C" "0/400 controls" "{PMID:Hilgert 2008:18616530}" "+DpnI;+Sau3AI;+MboI;+BfuCI;+DpnII;+TaqI" "g.94615A>C" "homozygous; pathogenicity unclear, segregates with the disease" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "pathogenic" "" "0000373550" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373551" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373552" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373553" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373554" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373555" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373556" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373557" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373558" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373559" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373560" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373561" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373562" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373563" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373564" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373565" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373566" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373567" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Kurima 2002:11850618}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373568" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/772 controls" "{PMID:Kitajiri 2007:17877751}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373569" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/772 controls" "{PMID:Kitajiri 2007:17877751}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373570" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Kitajiri 2007:17877751}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373571" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Kitajiri 2007:17877751}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373572" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/772 controls" "{PMID:Kitajiri 2007:17877751}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373573" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/772 controls" "{PMID:Kitajiri 2007:17877751}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373574" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/772 controls" "{PMID:Kitajiri 2007:17877751}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373575" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/772 controls" "{PMID:Kitajiri 2007:17877751}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373576" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/772 controls" "{PMID:Kitajiri 2007:17877751}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373577" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/772 controls" "{PMID:Kitajiri 2007:17877751}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373578" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/200 controls" "{PMID:Tlili 2008:18259073}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373579" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/200 controls" "{PMID:Tlili 2008:18259073}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373580" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/200 controls" "{PMID:Tlili 2008:18259073}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373581" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/200 controls" "{PMID:Tlili 2008:18259073}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373582" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/200 controls" "{PMID:Tlili 2008:18259073}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373583" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/200 controls" "{PMID:Tlili 2008:18259073}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373584" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373585" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373586" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373587" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373588" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373589" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373590" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373591" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373592" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373593" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373594" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373595" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373596" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373597" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373598" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373599" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373600" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373601" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373602" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373603" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373604" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373605" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Hilgert 2008:18616530}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373606" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/190 controls" "{PMID:Sirmaci 2009:19187973}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373607" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "0/190 controls" "{PMID:Sirmaci 2009:19187973}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373608" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Ben Saïd 2010:20373850}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373609" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Ben Saïd 2010:20373850}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373610" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Ben Saïd 2010:20373850}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373611" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Ben Saïd 2010:20373850}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373612" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Ben Saïd 2010:20373850}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373613" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Ben Saïd 2010:20373850}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373614" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Searle 2012:22288896}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373615" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Searle 2012:22288896}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373616" "10" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Ganapathy 2014:24416283}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373617" "20" "99" "9" "75309494" "75309494" "subst" "6.54563E-5" "02416" "TMC1_000004" "g.75309494C>T" "" "{PMID:Ganapathy 2014:24416283}" "-MnlI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000373618" "21" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "0/584 controls" "{PMID:Meyer 2004:15605408}" "none" "in exon 13" "heterozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373619" "21" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "0/584 controls" "{PMID:Meyer 2004:15605408}" "none" "in exon 13" "heterozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373620" "21" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "0/584 controls" "{PMID:Meyer 2004:15605408}" "none" "in exon 13" "heterozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373621" "21" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "0/584 controls" "{PMID:Meyer 2004:15605408}" "none" "in exon 13" "heterozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373622" "10" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "0/200 controls" "{PMID:Tlili 2008:18259073}" "none" "" "homozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373623" "20" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "0/200 controls" "{PMID:Tlili 2008:18259073}" "none" "" "homozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373624" "10" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "" "{PMID:Hilgert 2008:18616530}" "none" "" "homozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373625" "10" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "" "{PMID:Hilgert 2008:18616530}" "none" "" "homozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373626" "10" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "" "{PMID:Hilgert 2008:18616530}" "none" "" "homozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373627" "20" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "" "{PMID:Hilgert 2008:18616530}" "none" "" "homozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373628" "20" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "" "{PMID:Hilgert 2008:18616530}" "none" "" "homozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373629" "20" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "" "{PMID:Hilgert 2008:18616530}" "none" "" "homozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373630" "21" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "0/164 controls" "{PMID:Brownstein 2011:21917145}" "none" "" "heterozygous; Pathogenic" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "pathogenic" "" "0000373631" "10" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "none" "" "homozygous" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "VUS" "ACMG" "0000373632" "20" "99" "9" "75404174" "75404174" "subst" "5.68796E-5" "02416" "TMC1_000005" "g.75404174C>T" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "none" "" "homozygous" "Germline" "" "rs151001642" "0" "" "" "g.72789258C>T" "" "VUS" "ACMG" "0000373633" "10" "55" "9" "75404175" "75404175" "subst" "1.21885E-5" "02416" "TMC1_000006" "g.75404175G>A" "0/200 controls" "{PMID:Hilgert 2008:18616530}; USMA-{MSV3dQ8TDI8p.Arg389Gln:}" "-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;-DpnII" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72789259G>A" "" "pathogenic" "" "0000373634" "20" "95" "9" "75404175" "75404175" "subst" "1.21885E-5" "02416" "TMC1_000006" "g.75404175G>A" "0/200 controls" "{PMID:Hilgert 2008:18616530}; USMA-{MSV3dQ8TDI8p.Arg389Gln:}" "-AlwI;-Sau3AI;-MboI;-DpnI;-BfuCI;-DpnII" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72789259G>A" "" "pathogenic" "" "0000373635" "10" "99" "9" "75387356" "75387356" "del" "0" "02416" "TMC1_000007" "g.75387356del" "" "{PMID:Hilgert 2008:18616530}" "none" "767delT" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72772440del" "" "VUS" "ACMG" "0000373636" "20" "99" "9" "75387356" "75387356" "del" "0" "02416" "TMC1_000007" "g.75387356del" "" "{PMID:Hilgert 2008:18616530}" "none" "767delT" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72772440del" "" "VUS" "ACMG" "0000373637" "11" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373638" "10" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373639" "10" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373640" "11" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373641" "21" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373642" "21" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373643" "11" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373644" "20" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373645" "10" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373646" "10" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373647" "21" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373648" "21" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/902 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "" "0000373649" "10" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/554 controls" "{PMID:Hilgert 2009:19180119}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373650" "21" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/554 controls" "{PMID:Hilgert 2009:19180119}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous, does not segregate with disease; Pathogenic but reduced penetrance" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373651" "10" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/554 controls" "{PMID:Hilgert 2009:19180119}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373652" "11" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/554 controls" "{PMID:Hilgert 2009:19180119}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373653" "11" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/554 controls" "{PMID:Hilgert 2009:19180119}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373654" "21" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/554 controls" "{PMID:Hilgert 2009:19180119}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373655" "21" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/554 controls" "{PMID:Hilgert 2009:19180119}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "VUS" "ACMG" "0000373656" "11" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/554 controls" "{PMID:Hilgert 2009:19180119}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "pathogenic" "" "0000373657" "11" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000008" "g.75431077G>A" "0/554 controls" "{PMID:Hilgert 2009:19180119}; USMA-{MSV3dQ8TDI8p.Asp572Asn:}" "+CspCI (2);-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>A" "" "pathogenic" "" "0000373658" "10" "99" "9" "75242836" "75263581" "del" "0" "02416" "TMC1_000009" "g.(75231394_75242836)_(75263581_75303624)del" "" "{PMID:Kurima 2002:11850618}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000373659" "20" "99" "9" "75242836" "75263581" "del" "0" "02416" "TMC1_000009" "g.(75231394_75242836)_(75263581_75303624)del" "" "{PMID:Kurima 2002:11850618}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000373660" "10" "55" "9" "75366758" "75366758" "subst" "0" "02416" "TMC1_000010" "g.75366758T>A" "0/320 controls" "{PMID:Kurima 2002:11850618}" "+DdeI" "IVS10-8T>A" "homozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.72751842T>A" "" "VUS" "" "0000373661" "10" "55" "9" "75366758" "75366758" "subst" "0" "02416" "TMC1_000010" "g.75366758T>A" "0/320 controls" "{PMID:Kurima 2002:11850618}" "+DdeI" "IVS10-8T>A" "homozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.72751842T>A" "" "VUS" "" "0000373662" "10" "55" "9" "75366758" "75366758" "subst" "0" "02416" "TMC1_000010" "g.75366758T>A" "0/320 controls" "{PMID:Kurima 2002:11850618}" "+DdeI" "IVS10-8T>A" "homozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.72751842T>A" "" "VUS" "" "0000373663" "20" "55" "9" "75366758" "75366758" "subst" "0" "02416" "TMC1_000010" "g.75366758T>A" "0/320 controls" "{PMID:Kurima 2002:11850618}" "+DdeI" "IVS10-8T>A" "homozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.72751842T>A" "" "VUS" "" "0000373664" "20" "55" "9" "75366758" "75366758" "subst" "0" "02416" "TMC1_000010" "g.75366758T>A" "0/320 controls" "{PMID:Kurima 2002:11850618}" "+DdeI" "IVS10-8T>A" "homozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.72751842T>A" "" "VUS" "ACMG" "0000373665" "20" "55" "9" "75366758" "75366758" "subst" "0" "02416" "TMC1_000010" "g.75366758T>A" "0/320 controls" "{PMID:Kurima 2002:11850618}" "+DdeI" "IVS10-8T>A" "homozygous; pathogenicity unclear" "Germline" "" "" "0" "" "" "g.72751842T>A" "" "VUS" "ACMG" "0000373666" "10" "55" "9" "75366758" "75366758" "subst" "0" "02416" "TMC1_000010" "g.75366758T>A" "0/234 controls" "{PMID:Santos 2005:16134132}" "+DdeI" "" "homozygous; exon 11 skiped" "Germline" "" "" "0" "" "" "g.72751842T>A" "" "pathogenic" "" "0000373667" "20" "55" "9" "75366758" "75366758" "subst" "0" "02416" "TMC1_000010" "g.75366758T>A" "0/234 controls" "{PMID:Santos 2005:16134132}" "+DdeI" "" "homozygous; exon 11 skiped" "Germline" "" "" "0" "" "" "g.72751842T>A" "" "pathogenic" "" "0000373668" "10" "99" "9" "75407236" "75407236" "subst" "0.000357628" "02416" "TMC1_000011" "g.75407236C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "+BpuEI;-XhoI;-TliI;-MnlI;-PspXI;-AvaI;-BsoBI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72792320C>T" "" "pathogenic" "" "0000373669" "20" "99" "9" "75407236" "75407236" "subst" "0.000357628" "02416" "TMC1_000011" "g.75407236C>T" "0/320 controls" "{PMID:Kurima 2002:11850618}" "+BpuEI;-XhoI;-TliI;-MnlI;-PspXI;-AvaI;-BsoBI;-TaqI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72792320C>T" "" "pathogenic" "" "0000373670" "21" "99" "9" "75407236" "75407236" "subst" "0.000357628" "02416" "TMC1_000011" "g.75407236C>T" "" "{PMID:Baux, Vaché 2017:29196752}" "+BpuEI;-XhoI;-TliI;-MnlI;-PspXI;-AvaI;-BsoBI;-TaqI" "" "heterozygous" "Germline" "" "rs200171616" "0" "" "" "g.72792320C>T" "" "pathogenic" "" "0000373671" "10" "99" "9" "75315495" "75315495" "del" "0" "02416" "TMC1_000012" "g.75315495del" "0/320 controls" "{PMID:Kurima 2002:11850618}" "none" "295delA" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72700579del" "" "pathogenic" "" "0000373672" "20" "99" "9" "75315495" "75315495" "del" "0" "02416" "TMC1_000012" "g.75315495del" "0/320 controls" "{PMID:Kurima 2002:11850618}" "none" "295delA" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72700579del" "" "pathogenic" "" "0000373673" "10" "99" "9" "75387472" "75387472" "subst" "1.21966E-5" "02416" "TMC1_000013" "g.75387472G>A" "" "{PMID:Kurima 2002:11850618}" "none" "IVS13+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72772556G>A" "" "VUS" "ACMG" "0000373674" "20" "99" "9" "75387472" "75387472" "subst" "1.21966E-5" "02416" "TMC1_000013" "g.75387472G>A" "" "{PMID:Kurima 2002:11850618}" "none" "IVS13+1G>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72772556G>A" "" "VUS" "ACMG" "0000373675" "10" "55" "9" "75435954" "75435954" "subst" "0" "02416" "TMC1_000014" "g.75435954A>G" "0/320 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Met654Val:}" "+HpyCH4IV;+BsaAI;-NlaIII;-FatI;-BsrGI;-CviAII;" "" "homozygous; Pathogenic" "Germline" "" "rs121908074" "0" "" "" "g.72821038A>G" "" "benign" "" "0000373676" "20" "55" "9" "75435954" "75435954" "subst" "0" "02416" "TMC1_000014" "g.75435954A>G" "0/320 controls" "{PMID:Kurima 2002:11850618}; USMA-{MSV3dQ8TDI8p.Met654Val:}" "+HpyCH4IV;+BsaAI;-NlaIII;-FatI;-BsrGI;-CviAII;" "" "homozygous; Pathogenic" "Germline" "" "rs121908074" "0" "" "" "g.72821038A>G" "" "benign" "" "0000373677" "10" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000015" "g.75303653C>T" "68/154 controls" "{PMID:Kitajiri 2007:17877751}" "-BbsI" "" "homozygous; reported in linkage disequilibrium with c.100C>T" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "benign" "" "0000373678" "10" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000015" "g.75303653C>T" "68/154 controls" "{PMID:Kitajiri 2007:17877751}" "-BbsI" "" "homozygous; reported in linkage disequilibrium with c.100C>T" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "benign" "" "0000373679" "10" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000015" "g.75303653C>T" "68/154 controls" "{PMID:Kitajiri 2007:17877751}" "-BbsI" "" "homozygous; reported in linkage disequilibrium with c.100C>T" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "benign" "" "0000373680" "10" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000015" "g.75303653C>T" "68/154 controls" "{PMID:Kitajiri 2007:17877751}" "-BbsI" "" "homozygous; reported in linkage disequilibrium with c.100C>T" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "benign" "" "0000373681" "10" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000015" "g.75303653C>T" "68/154 controls" "{PMID:Kitajiri 2007:17877751}" "-BbsI" "" "homozygous; reported in linkage disequilibrium with c.100C>T" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "benign" "" "0000373682" "20" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000015" "g.75303653C>T" "68/154 controls" "{PMID:Kitajiri 2007:17877751}" "-BbsI" "" "homozygous; reported in linkage disequilibrium with c.100C>T" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "benign" "" "0000373683" "20" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000015" "g.75303653C>T" "68/154 controls" "{PMID:Kitajiri 2007:17877751}" "-BbsI" "" "homozygous; reported in linkage disequilibrium with c.100C>T" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "benign" "" "0000373684" "20" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000015" "g.75303653C>T" "68/154 controls" "{PMID:Kitajiri 2007:17877751}" "-BbsI" "" "homozygous; reported in linkage disequilibrium with c.100C>T" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "benign" "" "0000373685" "20" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000015" "g.75303653C>T" "68/154 controls" "{PMID:Kitajiri 2007:17877751}" "-BbsI" "" "homozygous; reported in linkage disequilibrium with c.100C>T" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "pathogenic" "" "0000373686" "20" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000015" "g.75303653C>T" "68/154 controls" "{PMID:Kitajiri 2007:17877751}" "-BbsI" "" "homozygous; reported in linkage disequilibrium with c.100C>T" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "pathogenic" "" "0000373687" "10" "99" "9" "75263581" "75263581" "subst" "0" "02416" "TMC1_000016" "g.75263581G>T" "0/338 controls" "{PMID:Kitajiri 2007:17877751}" "-BslI" "IVS5+1G>T" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72648665G>T" "" "VUS" "ACMG" "0000373688" "20" "99" "9" "75263581" "75263581" "subst" "0" "02416" "TMC1_000016" "g.75263581G>T" "0/338 controls" "{PMID:Kitajiri 2007:17877751}" "-BslI" "IVS5+1G>T" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72648665G>T" "" "VUS" "ACMG" "0000373689" "10" "55" "9" "75407243" "75407243" "subst" "0" "02416" "TMC1_000017" "g.75407243C>T" "0/338 controls" "{PMID:Kitajiri 2007:17877751}; USMA-{MSV3dQ8TDI8p.Pro514Leu:}" "-PpuMI;-Sau96I;-AvaII;-EcoO109I" "" "homozygous; likely to be pathogenic" "Germline" "" "" "0" "" "" "g.72792327C>T" "" "VUS" "ACMG" "0000373690" "20" "55" "9" "75407243" "75407243" "subst" "0" "02416" "TMC1_000017" "g.75407243C>T" "0/338 controls" "{PMID:Kitajiri 2007:17877751}; USMA-{MSV3dQ8TDI8p.Pro514Leu:}" "-PpuMI;-Sau96I;-AvaII;-EcoO109I" "" "homozygous; likely to be pathogenic" "Germline" "" "" "0" "" "" "g.72792327C>T" "" "VUS" "ACMG" "0000373691" "10" "55" "9" "75407245" "75407245" "subst" "0" "02416" "TMC1_000018" "g.75407245T>C" "0/338 controls" "{PMID:Kitajiri 2007:17877751}; USMA-{MSV3dQ8TDI8p.Cys515Arg:}" "+MnlI;-BcgI (2)" "" "homozygous; likely to be pathogenic" "Germline" "" "rs121908076" "0" "" "" "g.72792329T>C" "" "VUS" "ACMG" "0000373692" "10" "55" "9" "75407245" "75407245" "subst" "0" "02416" "TMC1_000018" "g.75407245T>C" "0/338 controls" "{PMID:Kitajiri 2007:17877751}; USMA-{MSV3dQ8TDI8p.Cys515Arg:}" "+MnlI;-BcgI (2)" "" "homozygous; likely to be pathogenic" "Germline" "" "rs121908076" "0" "" "" "g.72792329T>C" "" "VUS" "ACMG" "0000373693" "20" "55" "9" "75407245" "75407245" "subst" "0" "02416" "TMC1_000018" "g.75407245T>C" "0/338 controls" "{PMID:Kitajiri 2007:17877751}; USMA-{MSV3dQ8TDI8p.Cys515Arg:}" "+MnlI;-BcgI (2)" "" "homozygous; likely to be pathogenic" "Germline" "" "rs121908076" "0" "" "" "g.72792329T>C" "" "VUS" "ACMG" "0000373694" "20" "55" "9" "75407245" "75407245" "subst" "0" "02416" "TMC1_000018" "g.75407245T>C" "0/338 controls" "{PMID:Kitajiri 2007:17877751}; USMA-{MSV3dQ8TDI8p.Cys515Arg:}" "+MnlI;-BcgI (2)" "" "homozygous; likely to be pathogenic" "Germline" "" "rs121908076" "0" "" "" "g.72792329T>C" "" "VUS" "ACMG" "0000373695" "20" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000019" "g.75431077G>C" "0/902 controls" "{PMID:Kitajiri 2007:17250663}; USMA-{MSV3dQ8TDI8p.Asp572His:}" "+AleI;+MslI;+BstXI;-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>C" "" "VUS" "ACMG" "0000373696" "20" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000019" "g.75431077G>C" "0/902 controls" "{PMID:Kitajiri 2007:17250663}; USMA-{MSV3dQ8TDI8p.Asp572His:}" "+AleI;+MslI;+BstXI;-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>C" "" "VUS" "ACMG" "0000373697" "20" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000019" "g.75431077G>C" "0/902 controls" "{PMID:Kitajiri 2007:17250663}; USMA-{MSV3dQ8TDI8p.Asp572His:}" "+AleI;+MslI;+BstXI;-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>C" "" "VUS" "ACMG" "0000373698" "10" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000019" "g.75431077G>C" "0/902 controls" "{PMID:Kitajiri 2007:17250663}; USMA-{MSV3dQ8TDI8p.Asp572His:}" "+AleI;+MslI;+BstXI;-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>C" "" "VUS" "ACMG" "0000373699" "10" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000019" "g.75431077G>C" "0/902 controls" "{PMID:Kitajiri 2007:17250663}; USMA-{MSV3dQ8TDI8p.Asp572His:}" "+AleI;+MslI;+BstXI;-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>C" "" "VUS" "ACMG" "0000373700" "21" "55" "9" "75431077" "75431077" "subst" "0" "02416" "TMC1_000019" "g.75431077G>C" "0/902 controls" "{PMID:Kitajiri 2007:17250663}; USMA-{MSV3dQ8TDI8p.Asp572His:}" "+AleI;+MslI;+BstXI;-TaqI" "" "heterozygous; Pathogenic" "Germline" "" "rs121908072" "0" "" "" "g.72816161G>C" "" "VUS" "ACMG" "0000373701" "10" "55" "9" "75387417" "75387417" "subst" "4.0625E-6" "02416" "TMC1_000020" "g.75387417A>G" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Tyr277Cys:}" "none" "" "homozygous; Probably damaging" "Germline" "" "" "0" "" "" "g.72772501A>G" "" "VUS" "ACMG" "0000373702" "20" "55" "9" "75387417" "75387417" "subst" "4.0625E-6" "02416" "TMC1_000020" "g.75387417A>G" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Tyr277Cys:}" "none" "" "homozygous; Probably damaging" "Germline" "" "" "0" "" "" "g.72772501A>G" "" "VUS" "ACMG" "0000373703" "0" "75" "9" "75404123" "75404123" "subst" "5.69152E-5" "02416" "TMC1_000021" "g.75404123G>A" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Val372Met:}" "+FatI;+NlaIII;+CviAII" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72789207G>A" "" "VUS" "ACMG" "0000373704" "10" "75" "9" "75404123" "75404123" "subst" "5.69152E-5" "02416" "TMC1_000021" "g.75404123G>A" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Val372Met:}" "+FatI;+NlaIII;+CviAII" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72789207G>A" "" "VUS" "ACMG" "0000373705" "20" "55" "9" "75404123" "75404123" "subst" "5.69152E-5" "02416" "TMC1_000021" "g.75404123G>A" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Val372Met:}" "+FatI;+NlaIII;+CviAII" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72789207G>A" "" "VUS" "ACMG" "0000373706" "20" "55" "9" "75404123" "75404123" "subst" "5.69152E-5" "02416" "TMC1_000021" "g.75404123G>A" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Val372Met:}" "+FatI;+NlaIII;+CviAII" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72789207G>A" "" "VUS" "ACMG" "0000373707" "10" "75" "9" "75404123" "75404123" "subst" "5.69152E-5" "02416" "TMC1_000021" "g.75404123G>A" "" "{PMID:Ganapathy 2014:24416283}; USMA-{MSV3dQ8TDI8p.Val372Met:}" "+FatI;+NlaIII;+CviAII" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72789207G>A" "" "VUS" "ACMG" "0000373708" "20" "75" "9" "75404123" "75404123" "subst" "5.69152E-5" "02416" "TMC1_000021" "g.75404123G>A" "" "{PMID:Ganapathy 2014:24416283}; USMA-{MSV3dQ8TDI8p.Val372Met:}" "+FatI;+NlaIII;+CviAII" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72789207G>A" "" "VUS" "ACMG" "0000373709" "10" "55" "9" "75406911" "75406911" "subst" "1.21922E-5" "02416" "TMC1_000022" "g.75406911G>A" "0/230 controls" "{PMID:Meyer 2004:15605408}; USMA-{MSV3dQ8TDI8p.Arg445His:}" "-HgaI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72791995G>A" "" "VUS" "ACMG" "0000373710" "20" "55" "9" "75406911" "75406911" "subst" "1.21922E-5" "02416" "TMC1_000022" "g.75406911G>A" "0/230 controls" "{PMID:Meyer 2004:15605408}; USMA-{MSV3dQ8TDI8p.Arg445His:}" "-HgaI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72791995G>A" "" "VUS" "ACMG" "0000373711" "10" "55" "9" "75406911" "75406911" "subst" "1.21922E-5" "02416" "TMC1_000022" "g.75406911G>A" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Arg445His:}" "-HgaI" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72791995G>A" "" "VUS" "ACMG" "0000373712" "20" "55" "9" "75406911" "75406911" "subst" "1.21922E-5" "02416" "TMC1_000022" "g.75406911G>A" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Arg445His:}" "-HgaI" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72791995G>A" "" "VUS" "ACMG" "0000373713" "0" "55" "9" "75406911" "75406911" "subst" "1.21922E-5" "02416" "TMC1_000022" "g.75406911G>A" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{MSV3dQ8TDI8p.Arg445His:}" "-HgaI" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.72791995G>A" "" "VUS" "ACMG" "0000373714" "10" "55" "9" "75441785" "75441785" "subst" "4.06157E-6" "02416" "TMC1_000023" "g.75441785T>G" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Ser668Arg:}" "+BssKI;+StyD4I;+BstNI;-BsrI;-TspRI;-BmrI" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72826869T>G" "" "VUS" "ACMG" "0000373715" "10" "55" "9" "75441785" "75441785" "subst" "4.06157E-6" "02416" "TMC1_000023" "g.75441785T>G" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Ser668Arg:}" "+BssKI;+StyD4I;+BstNI;-BsrI;-TspRI;-BmrI" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72826869T>G" "" "VUS" "ACMG" "0000373716" "20" "55" "9" "75441785" "75441785" "subst" "4.06157E-6" "02416" "TMC1_000023" "g.75441785T>G" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Ser668Arg:}" "+BssKI;+StyD4I;+BstNI;-BsrI;-TspRI;-BmrI" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72826869T>G" "" "VUS" "ACMG" "0000373717" "20" "55" "9" "75441785" "75441785" "subst" "4.06157E-6" "02416" "TMC1_000023" "g.75441785T>G" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Ser668Arg:}" "+BssKI;+StyD4I;+BstNI;-BsrI;-TspRI;-BmrI" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72826869T>G" "" "VUS" "ACMG" "0000373718" "10" "55" "9" "75441785" "75441785" "subst" "4.06157E-6" "02416" "TMC1_000023" "g.75441785T>G" "0/338 controls" "{PMID:Kitajiri 2007:17877751}; USMA-{MSV3dQ8TDI8p.Ser668Arg:}" "+BssKI;+StyD4I;+BstNI;-BsrI;-TspRI;-BmrI" "" "homozygous; Potentially pathogenic" "Germline" "" "" "0" "" "" "g.72826869T>G" "" "VUS" "ACMG" "0000373719" "20" "55" "9" "75441785" "75441785" "subst" "4.06157E-6" "02416" "TMC1_000023" "g.75441785T>G" "0/338 controls" "{PMID:Kitajiri 2007:17877751}; USMA-{MSV3dQ8TDI8p.Ser668Arg:}" "+BssKI;+StyD4I;+BstNI;-BsrI;-TspRI;-BmrI" "" "homozygous; Potentially pathogenic" "Germline" "" "" "0" "" "" "g.72826869T>G" "" "VUS" "ACMG" "0000373720" "10" "55" "9" "75441816" "75441816" "subst" "0" "02416" "TMC1_000024" "g.75441816G>A" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Glu679Lys:}" "-BsmAI;-BsaI" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72826900G>A" "" "VUS" "" "0000373721" "20" "55" "9" "75441816" "75441816" "subst" "0" "02416" "TMC1_000024" "g.75441816G>A" "0/234 controls" "{PMID:Santos 2005:16134132}; USMA-{MSV3dQ8TDI8p.Glu679Lys:}" "-BsmAI;-BsaI" "" "homozygous; Benign" "Germline" "" "" "0" "" "" "g.72826900G>A" "" "VUS" "" "0000373722" "10" "55" "9" "75431131" "75431131" "subst" "0" "02416" "TMC1_000025" "g.75431131G>A" "0/584 controls" "{PMID:Meyer 2004:15605408}" "+Hpy166II;+AccI;-PhoI;-HaeIII;-CviKI_1;-Cac8I" "19+5 (IVS19)" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72816215G>A" "" "VUS" "" "0000373723" "10" "55" "9" "75431131" "75431131" "subst" "0" "02416" "TMC1_000025" "g.75431131G>A" "0/584 controls" "{PMID:Meyer 2004:15605408}" "+Hpy166II;+AccI;-PhoI;-HaeIII;-CviKI_1;-Cac8I" "19+5 (IVS19)" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72816215G>A" "" "VUS" "" "0000373724" "20" "55" "9" "75431131" "75431131" "subst" "0" "02416" "TMC1_000025" "g.75431131G>A" "0/584 controls" "{PMID:Meyer 2004:15605408}" "+Hpy166II;+AccI;-PhoI;-HaeIII;-CviKI_1;-Cac8I" "19+5 (IVS19)" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72816215G>A" "" "VUS" "" "0000373725" "20" "55" "9" "75431131" "75431131" "subst" "0" "02416" "TMC1_000025" "g.75431131G>A" "0/584 controls" "{PMID:Meyer 2004:15605408}" "+Hpy166II;+AccI;-PhoI;-HaeIII;-CviKI_1;-Cac8I" "19+5 (IVS19)" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72816215G>A" "" "VUS" "" "0000373726" "11" "55" "9" "75431131" "75431131" "subst" "0" "02416" "TMC1_000025" "g.75431131G>A" "0/584 controls" "{PMID:Meyer 2004:15605408}" "+Hpy166II;+AccI;-PhoI;-HaeIII;-CviKI_1;-Cac8I" "19+5 (IVS19)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72816215G>A" "" "VUS" "" "0000373727" "11" "55" "9" "75431131" "75431131" "subst" "0" "02416" "TMC1_000025" "g.75431131G>A" "0/584 controls" "{PMID:Meyer 2004:15605408}" "+Hpy166II;+AccI;-PhoI;-HaeIII;-CviKI_1;-Cac8I" "19+5 (IVS19)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72816215G>A" "" "VUS" "" "0000373728" "11" "55" "9" "75431131" "75431131" "subst" "0" "02416" "TMC1_000025" "g.75431131G>A" "0/584 controls" "{PMID:Meyer 2004:15605408}" "+Hpy166II;+AccI;-PhoI;-HaeIII;-CviKI_1;-Cac8I" "19+5 (IVS19)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72816215G>A" "" "VUS" "ACMG" "0000373729" "11" "55" "9" "75431131" "75431131" "subst" "0" "02416" "TMC1_000025" "g.75431131G>A" "0/584 controls" "{PMID:Meyer 2004:15605408}" "+Hpy166II;+AccI;-PhoI;-HaeIII;-CviKI_1;-Cac8I" "19+5 (IVS19)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72816215G>A" "" "VUS" "ACMG" "0000373730" "10" "55" "9" "75387363" "75387363" "subst" "0" "02416" "TMC1_000026" "g.75387363A>G" "0/230 controls" "{PMID:Kalay 2005:16287143}; USMA-{MSV3dQ8TDI8p.Tyr259Cys:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72772447A>G" "" "VUS" "ACMG" "0000373731" "20" "55" "9" "75387363" "75387363" "subst" "0" "02416" "TMC1_000026" "g.75387363A>G" "0/230 controls" "{PMID:Kalay 2005:16287143}; USMA-{MSV3dQ8TDI8p.Tyr259Cys:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72772447A>G" "" "VUS" "ACMG" "0000373732" "10" "55" "9" "75387408" "75387408" "subst" "1.62504E-5" "02416" "TMC1_000027" "g.75387408C>T" "0/230 controls" "{PMID:Kalay 2005:16287143}; USMA-{MSV3dQ8TDI8p.Pro274Leu:}" "+ApeKI;+BbvI;+TseI;-BsrBI;-AciI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72772492C>T" "" "pathogenic" "" "0000373733" "20" "55" "9" "75387408" "75387408" "subst" "1.62504E-5" "02416" "TMC1_000027" "g.75387408C>T" "0/230 controls" "{PMID:Kalay 2005:16287143}; USMA-{MSV3dQ8TDI8p.Pro274Leu:}" "+ApeKI;+BbvI;+TseI;-BsrBI;-AciI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72772492C>T" "" "pathogenic" "" "0000373734" "10" "99" "9" "75404092" "75404096" "del" "0" "02416" "TMC1_000028" "g.75404092_75404096del" "0/230 controls" "{PMID:Kalay 2005:16287143}" "-DpnI;-BclI;-Sau3AI;-MboI;-Hpy188I;-BfuCI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72789176_72789180del" "" "VUS" "ACMG" "0000373735" "20" "99" "9" "75404092" "75404096" "del" "0" "02416" "TMC1_000028" "g.75404092_75404096del" "0/230 controls" "{PMID:Kalay 2005:16287143}" "-DpnI;-BclI;-Sau3AI;-MboI;-Hpy188I;-BfuCI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72789176_72789180del" "" "VUS" "ACMG" "0000373736" "10" "55" "9" "75406907" "75406907" "subst" "0" "02416" "TMC1_000029" "g.75406907G>A" "0/194 controls" "{PMID:Sirmaci 2009:19187973}; USMA-{MSV3dQ8TDI8p.Gly444Arg:}" "+BsmBI;+BsmAI;+DdeI;-BsmFI;-BsrI;-BmrI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72791991G>A" "" "pathogenic" "" "0000373737" "20" "55" "9" "75406907" "75406907" "subst" "0" "02416" "TMC1_000029" "g.75406907G>A" "0/194 controls" "{PMID:Sirmaci 2009:19187973}; USMA-{MSV3dQ8TDI8p.Gly444Arg:}" "+BsmBI;+BsmAI;+DdeI;-BsmFI;-BsrI;-BmrI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72791991G>A" "" "pathogenic" "" "0000373738" "10" "99" "9" "75409427" "75452538" "del" "0" "02416" "TMC1_000030" "g.75409427_75452538del" "" "{PMID:Sirmaci 2009:19187973}" "" "a 31 kb deletion" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72794511_72837622del" "" "VUS" "ACMG" "0000373739" "20" "99" "9" "75409427" "75452538" "del" "0" "02416" "TMC1_000030" "g.75409427_75452538del" "" "{PMID:Sirmaci 2009:19187973}" "" "a 31 kb deletion" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72794511_72837622del" "" "VUS" "ACMG" "0000373740" "10" "75" "9" "75406910" "75406910" "subst" "6.50227E-5" "02416" "TMC1_000031" "g.75406910C>T" "0/194 controls" "{PMID:Sirmaci 2009:19187973}; USMA-{MSV3dQ8TDI8p.Arg445Cys:}" "+BtsCI;+FokI;+SfaNI;+NsiI;-HgaI;-BsmFI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72791994C>T" "" "VUS" "ACMG" "0000373741" "20" "55" "9" "75406910" "75406910" "subst" "6.50227E-5" "02416" "TMC1_000031" "g.75406910C>T" "0/194 controls" "{PMID:Sirmaci 2009:19187973}; USMA-{MSV3dQ8TDI8p.Arg445Cys:}" "+BtsCI;+FokI;+SfaNI;+NsiI;-HgaI;-BsmFI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72791994C>T" "" "VUS" "ACMG" "0000373742" "10" "75" "9" "75406910" "75406910" "subst" "6.50227E-5" "02416" "TMC1_000031" "g.75406910C>T" "0/108 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{MSV3dQ8TDI8p.Arg445Cys:}" "+BtsCI;+FokI;+SfaNI;+NsiI;-HgaI;-BsmFI" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72791994C>T" "" "VUS" "ACMG" "0000373743" "20" "75" "9" "75406910" "75406910" "subst" "6.50227E-5" "02416" "TMC1_000031" "g.75406910C>T" "0/108 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{MSV3dQ8TDI8p.Arg445Cys:}" "+BtsCI;+FokI;+SfaNI;+NsiI;-HgaI;-BsmFI" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72791994C>T" "" "VUS" "ACMG" "0000373744" "10" "55" "9" "75441811" "75441811" "subst" "1.21863E-5" "02416" "TMC1_000032" "g.75441811T>C" "0/196 controls" "{PMID:Sirmaci 2009:19187973}; USMA-{MSV3dQ8TDI8p.Ile677Thr:}" "+BpmI;+BsrI;+Tsp45I;+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72826895T>C" "" "VUS" "" "0000373745" "20" "55" "9" "75441811" "75441811" "subst" "1.21863E-5" "02416" "TMC1_000032" "g.75441811T>C" "0/196 controls" "{PMID:Sirmaci 2009:19187973}; USMA-{MSV3dQ8TDI8p.Ile677Thr:}" "+BpmI;+BsrI;+Tsp45I;+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72826895T>C" "" "VUS" "" "0000373746" "10" "55" "9" "75303674" "75303674" "subst" "0" "02416" "TMC1_000033" "g.75303674T>A" "0/192 controls" "{PMID:Sirmaci 2009:19187973}" "+Hpy188III" "IVS6+2T>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72688758T>A" "" "VUS" "" "0000373747" "10" "55" "9" "75303674" "75303674" "subst" "0" "02416" "TMC1_000033" "g.75303674T>A" "" "{PMID:Sirmaci 2009:19187973}" "+Hpy188III" "IVS6+2T>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72688758T>A" "" "VUS" "" "0000373748" "20" "55" "9" "75303674" "75303674" "subst" "0" "02416" "TMC1_000033" "g.75303674T>A" "0/192 controls" "{PMID:Sirmaci 2009:19187973}" "+Hpy188III" "IVS6+2T>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72688758T>A" "" "benign" "" "0000373749" "20" "55" "9" "75303674" "75303674" "subst" "0" "02416" "TMC1_000033" "g.75303674T>A" "" "{PMID:Sirmaci 2009:19187973}" "+Hpy188III" "IVS6+2T>A" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72688758T>A" "" "benign" "" "0000373750" "10" "11" "9" "75286317" "75286317" "subst" "0" "02416" "TMC1_000034" "g.75286317A>T" "" "{PMID:Ben Saïd 2010:20373850}" "none" "" "; Neutral" "Germline" "" "rs1417619" "0" "" "" "g.72671401A>T" "" "benign" "" "0000373751" "20" "11" "9" "75286317" "75286317" "subst" "0" "02416" "TMC1_000034" "g.75286317A>T" "" "{PMID:Ben Saïd 2010:20373850}" "none" "" "; Neutral" "Germline" "" "rs1417619" "0" "" "" "g.72671401A>T" "" "benign" "" "0000373752" "10" "11" "9" "75265059" "75265059" "subst" "0" "02416" "TMC1_000035" "g.75265059C>T" "" "{PMID:Ben Saïd 2010:20373850}" "+HphI" "" "homozygous; Neutral" "Germline" "" "rs12553768" "0" "" "" "g.72650143C>T" "" "benign" "" "0000373753" "20" "11" "9" "75265059" "75265059" "subst" "0" "02416" "TMC1_000035" "g.75265059C>T" "" "{PMID:Ben Saïd 2010:20373850}" "+HphI" "" "homozygous; Neutral" "Germline" "" "rs12553768" "0" "" "" "g.72650143C>T" "" "benign" "" "0000373754" "10" "11" "9" "75309143" "75309143" "subst" "0" "02416" "TMC1_000036" "g.75309143G>A" "" "{PMID:Ben Saïd 2010:20373850}" "+BspHI;+Hpy188III" "" "homozygous; Neutral" "Germline" "" "rs1663742" "0" "" "" "g.72694227G>A" "" "benign" "" "0000373755" "20" "11" "9" "75309143" "75309143" "subst" "0" "02416" "TMC1_000036" "g.75309143G>A" "" "{PMID:Ben Saïd 2010:20373850}" "+BspHI;+Hpy188III" "" "homozygous; Neutral" "Germline" "" "rs1663742" "0" "" "" "g.72694227G>A" "" "benign" "" "0000373756" "10" "11" "9" "75309143" "75309143" "subst" "0" "02416" "TMC1_000036" "g.75309143G>A" "" "{PMID:Ben Saïd 2010:20373850}" "+BspHI;+Hpy188III" "" "homozygous; Neutral" "Germline" "" "rs1663742" "0" "" "" "g.72694227G>A" "" "benign" "" "0000373757" "20" "11" "9" "75309143" "75309143" "subst" "0" "02416" "TMC1_000036" "g.75309143G>A" "" "{PMID:Ben Saïd 2010:20373850}" "+BspHI;+Hpy188III" "" "homozygous; Neutral" "Germline" "" "rs1663742" "0" "" "" "g.72694227G>A" "" "benign" "" "0000373758" "10" "11" "9" "75309143" "75309143" "subst" "0" "02416" "TMC1_000036" "g.75309143G>A" "" "{PMID:Ben Saïd 2010:20373850}" "+BspHI;+Hpy188III" "" "homozygous; Neutral" "Germline" "" "rs1663742" "0" "" "" "g.72694227G>A" "" "benign" "" "0000373759" "20" "11" "9" "75309143" "75309143" "subst" "0" "02416" "TMC1_000036" "g.75309143G>A" "" "{PMID:Ben Saïd 2010:20373850}" "+BspHI;+Hpy188III" "" "homozygous; Neutral" "Germline" "" "rs1663742" "0" "" "" "g.72694227G>A" "" "benign" "" "0000373760" "10" "11" "9" "75309846" "75309846" "subst" "0" "02416" "TMC1_000037" "g.75309846T>C" "" "{PMID:Ben Saïd 2010:20373850}" "+EcoNI;+BslI" "" "homozygous; Neutral" "Germline" "" "rs2589614" "0" "" "" "g.72694930T>C" "" "benign" "" "0000373761" "10" "11" "9" "75309846" "75309846" "subst" "0" "02416" "TMC1_000037" "g.75309846T>C" "" "{PMID:Ben Saïd 2010:20373850}" "+EcoNI;+BslI" "" "homozygous; Neutral" "Germline" "" "rs2589614" "0" "" "" "g.72694930T>C" "" "benign" "" "0000373762" "20" "11" "9" "75309846" "75309846" "subst" "0" "02416" "TMC1_000037" "g.75309846T>C" "" "{PMID:Ben Saïd 2010:20373850}" "+EcoNI;+BslI" "" "homozygous; Neutral" "Germline" "" "rs2589614" "0" "" "" "g.72694930T>C" "" "benign" "" "0000373763" "20" "11" "9" "75309846" "75309846" "subst" "0" "02416" "TMC1_000037" "g.75309846T>C" "" "{PMID:Ben Saïd 2010:20373850}" "+EcoNI;+BslI" "" "homozygous; Neutral" "Germline" "" "rs2589614" "0" "" "" "g.72694930T>C" "" "benign" "" "0000373764" "10" "11" "9" "75309846" "75309846" "subst" "0" "02416" "TMC1_000037" "g.75309846T>C" "" "{PMID:Ben Saïd 2010:20373850}" "+EcoNI;+BslI" "" "homozygous; Neutral" "Germline" "" "rs2589614" "0" "" "" "g.72694930T>C" "" "pathogenic" "" "0000373765" "20" "11" "9" "75309846" "75309846" "subst" "0" "02416" "TMC1_000037" "g.75309846T>C" "" "{PMID:Ben Saïd 2010:20373850}" "+EcoNI;+BslI" "" "homozygous; Neutral" "Germline" "" "rs2589614" "0" "" "" "g.72694930T>C" "" "pathogenic" "" "0000373766" "10" "99" "9" "75420320" "75420321" "del" "0" "02416" "TMC1_000038" "g.75420320_75420321del" "0/112 controls" "{PMID:Hildebrand 2010:21250555}" "-BsmAI;-AlwNI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72805404_72805405del" "" "VUS" "ACMG" "0000373767" "20" "99" "9" "75420320" "75420321" "del" "0" "02416" "TMC1_000038" "g.75420320_75420321del" "0/112 controls" "{PMID:Hildebrand 2010:21250555}" "-BsmAI;-AlwNI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72805404_72805405del" "" "VUS" "ACMG" "0000373768" "10" "55" "9" "75435933" "75435933" "subst" "2.03069E-5" "02416" "TMC1_000039" "g.75435933T>C" "16/564 controls" "{PMID:Brownstein 2011:21917145}; USMA-{MSV3dQ8TDI8p.Ser647Pro:}" "+MwoI;-Hpy166II" "" "homozygous; Likely to be pathogenic" "Germline" "" "rs138527651" "0" "" "" "g.72821017T>C" "" "VUS" "ACMG" "0000373769" "10" "55" "9" "75435933" "75435933" "subst" "2.03069E-5" "02416" "TMC1_000039" "g.75435933T>C" "16/564 controls" "{PMID:Brownstein 2011:21917145}; USMA-{MSV3dQ8TDI8p.Ser647Pro:}" "+MwoI;-Hpy166II" "" "homozygous; Likely to be pathogenic" "Germline" "" "rs138527651" "0" "" "" "g.72821017T>C" "" "VUS" "ACMG" "0000373770" "10" "55" "9" "75435933" "75435933" "subst" "2.03069E-5" "02416" "TMC1_000039" "g.75435933T>C" "16/564 controls" "{PMID:Brownstein 2011:21917145}; USMA-{MSV3dQ8TDI8p.Ser647Pro:}" "+MwoI;-Hpy166II" "" "homozygous; Likely to be pathogenic" "Germline" "" "rs138527651" "0" "" "" "g.72821017T>C" "" "VUS" "ACMG" "0000373771" "21" "55" "9" "75435933" "75435933" "subst" "2.03069E-5" "02416" "TMC1_000039" "g.75435933T>C" "16/564 controls" "{PMID:Brownstein 2011:21917145}; USMA-{MSV3dQ8TDI8p.Ser647Pro:}" "+MwoI;-Hpy166II" "" "heterozygous; Likely to be pathogenic" "Germline" "" "rs138527651" "0" "" "" "g.72821017T>C" "" "VUS" "ACMG" "0000373772" "20" "55" "9" "75435933" "75435933" "subst" "2.03069E-5" "02416" "TMC1_000039" "g.75435933T>C" "16/564 controls" "{PMID:Brownstein 2011:21917145}; USMA-{MSV3dQ8TDI8p.Ser647Pro:}" "+MwoI;-Hpy166II" "" "homozygous; Likely to be pathogenic" "Germline" "" "rs138527651" "0" "" "" "g.72821017T>C" "" "VUS" "ACMG" "0000373773" "20" "55" "9" "75435933" "75435933" "subst" "2.03069E-5" "02416" "TMC1_000039" "g.75435933T>C" "16/564 controls" "{PMID:Brownstein 2011:21917145}; USMA-{MSV3dQ8TDI8p.Ser647Pro:}" "+MwoI;-Hpy166II" "" "homozygous; Likely to be pathogenic" "Germline" "" "rs138527651" "0" "" "" "g.72821017T>C" "" "VUS" "ACMG" "0000373774" "20" "55" "9" "75435933" "75435933" "subst" "2.03069E-5" "02416" "TMC1_000039" "g.75435933T>C" "16/564 controls" "{PMID:Brownstein 2011:21917145}; USMA-{MSV3dQ8TDI8p.Ser647Pro:}" "+MwoI;-Hpy166II" "" "homozygous; Likely to be pathogenic" "Germline" "" "rs138527651" "0" "" "" "g.72821017T>C" "" "VUS" "ACMG" "0000373775" "11" "55" "9" "75435933" "75435933" "subst" "2.03069E-5" "02416" "TMC1_000039" "g.75435933T>C" "16/564 controls" "{PMID:Brownstein 2011:21917145}; USMA-{MSV3dQ8TDI8p.Ser647Pro:}" "+MwoI;-Hpy166II" "" "heterozygous; Likely to be pathogenic" "Germline" "" "rs138527651" "0" "" "" "g.72821017T>C" "" "VUS" "ACMG" "0000373776" "21" "55" "9" "75435933" "75435933" "subst" "2.03069E-5" "02416" "TMC1_000039" "g.75435933T>C" "16/564 controls" "{PMID:Brownstein 2011:21917145}; USMA-{MSV3dQ8TDI8p.Ser647Pro:}" "+MwoI;-Hpy166II" "" "heterozygous; Likely to be pathogenic" "Germline" "" "rs138527651" "0" "" "" "g.72821017T>C" "" "pathogenic" "" "0000373777" "11" "55" "9" "75404219" "75404219" "subst" "0" "02416" "TMC1_000040" "g.75404219T>C" "0/164 controls" "{PMID:Brownstein 2011:21917145}; USMA-{MSV3dQ8TDI8p.Trp404Arg:}" "+FauI;+AciI" "" "heterozygous; Possibly pathogenic" "Germline" "" "" "0" "" "" "g.72789303T>C" "" "pathogenic" "" "0000373778" "10" "99" "9" "75366812" "75366812" "subst" "0" "02416" "TMC1_000041" "g.75366812G>A" "0/192 controls" "{PMID:Duman 2011:21117948}" "-BtsCI;-BccI;-FokI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72751896G>A" "" "pathogenic" "" "0000373779" "20" "99" "9" "75366812" "75366812" "subst" "0" "02416" "TMC1_000041" "g.75366812G>A" "0/192 controls" "{PMID:Duman 2011:21117948}" "-BtsCI;-BccI;-FokI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72751896G>A" "" "pathogenic" "" "0000373780" "10" "99" "9" "75435758" "75435758" "subst" "1.21956E-5" "02416" "TMC1_000042" "g.75435758G>A" "0/200 controls" "{PMID:Tlili 2008:18259073}" "+XbaI;+Hpy188III;-BtsCI;-BccI;-FokI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820842G>A" "" "VUS" "ACMG" "0000373781" "20" "99" "9" "75435758" "75435758" "subst" "1.21956E-5" "02416" "TMC1_000042" "g.75435758G>A" "0/200 controls" "{PMID:Tlili 2008:18259073}" "+XbaI;+Hpy188III;-BtsCI;-BccI;-FokI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.72820842G>A" "" "VUS" "ACMG" "0000373782" "3" "90" "9" "75431129" "75431129" "subst" "0.000593366" "02416" "TMC1_000043" "g.75431129A>G" "1/354 controls" "{PMID:De Heer 2010:21252500}" "+Sau96I" "" "" "Germline" "" "" "0" "" "" "g.72816213A>G" "" "pathogenic (recessive)" "" "0000373784" "0" "99" "9" "75309631" "75309631" "subst" "0" "02416" "TMC1_000044" "g.75309631G>C" "0/400 controls" "{PMID:Yang 2013:23767834}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.72694715G>C" "" "VUS" "ACMG" "0000373785" "0" "99" "9" "75309544" "75309544" "del" "0" "02416" "TMC1_000045" "g.75309544del" "0/400 controls" "{PMID:Yang 2013:23767834}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.72694628del" "" "VUS" "ACMG" "0000373786" "0" "55" "9" "75404116" "75404116" "subst" "0" "02416" "TMC1_000046" "g.75404116C>A" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{MSV3dQ8TDI8p.Asn369Lys:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.72789200C>A" "" "VUS" "ACMG" "0000373787" "10" "55" "9" "75404218" "75404218" "subst" "4.062E-6" "02416" "TMC1_000047" "g.75404218G>C" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{MSV3dQ8TDI8p.Trp403Cys:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.72789302G>C" "" "VUS" "" "0000373788" "20" "55" "9" "75404218" "75404218" "subst" "4.062E-6" "02416" "TMC1_000047" "g.75404218G>C" "0/400 controls" "{PMID:Yang 2013:23767834}; USMA-{MSV3dQ8TDI8p.Trp403Cys:}" "" "" "homozygous; Mutation" "Germline" "" "" "0" "" "" "g.72789302G>C" "" "VUS" "" "0000373789" "11" "99" "9" "75404180" "75404180" "subst" "0" "02416" "TMC1_000048" "g.75404180C>T" "" "{PMID:Gao 2013:23690975}" "0/416 controls" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.72789264C>T" "" "pathogenic" "" "0000373790" "21" "99" "9" "75366819" "75366819" "subst" "4.06345E-6" "02416" "TMC1_000049" "g.75366819G>A" "0/416 controls" "{PMID:Gao et al,.2013:23690975}; USMA-{MSV3dQ8TDI8p.Gly197Arg):}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.72751903G>A" "" "pathogenic" "" "0000373791" "21" "99" "9" "75407269" "75407269" "subst" "0" "02416" "TMC1_000050" "g.75407269G>A" "0/106 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72792353G>A" "" "pathogenic" "" "0000373792" "21" "99" "9" "75407269" "75407269" "subst" "0" "02416" "TMC1_000050" "g.75407269G>A" "0/106 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72792353G>A" "" "pathogenic" "" "0000373793" "21" "99" "9" "75407269" "75407269" "subst" "0" "02416" "TMC1_000050" "g.75407269G>A" "0/106 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72792353G>A" "" "pathogenic" "" "0000373794" "21" "99" "9" "75407269" "75407269" "subst" "0" "02416" "TMC1_000050" "g.75407269G>A" "0/106 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72792353G>A" "" "VUS" "ACMG" "0000373795" "21" "99" "9" "75407269" "75407269" "subst" "0" "02416" "TMC1_000050" "g.75407269G>A" "0/106 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72792353G>A" "" "VUS" "ACMG" "0000373796" "11" "75" "9" "75387387" "75387387" "subst" "0" "02416" "TMC1_000051" "g.75387387G>A" "0/108 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{MSV3dQ8TDI8p.Gly267Glu:}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72772471G>A" "" "VUS" "ACMG" "0000373797" "11" "75" "9" "75387387" "75387387" "subst" "0" "02416" "TMC1_000051" "g.75387387G>A" "0/108 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{MSV3dQ8TDI8p.Gly267Glu:}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72772471G>A" "" "VUS" "ACMG" "0000373798" "11" "75" "9" "75387387" "75387387" "subst" "0" "02416" "TMC1_000051" "g.75387387G>A" "0/108 controls" "{PMID:Ganapathy 2014:24416283}; USMA-{MSV3dQ8TDI8p.Gly267Glu:}" "" "" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72772471G>A" "" "VUS" "ACMG" "0000373799" "11" "75" "9" "75366860" "75366862" "del" "0" "02416" "TMC1_000052" "g.75366860_75366862del" "0/102 controls" "{PMID:Ganapathy 2014:24416283}" "" "628_630del" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72751944_72751946del" "" "VUS" "ACMG" "0000373800" "11" "75" "9" "75366860" "75366862" "del" "0" "02416" "TMC1_000052" "g.75366860_75366862del" "0/102 controls" "{PMID:Ganapathy 2014:24416283}" "" "628_630del" "heterozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72751944_72751946del" "" "VUS" "ACMG" "0000373801" "10" "75" "9" "75315428" "75315428" "subst" "0" "02416" "TMC1_000053" "g.75315428T>G" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72700512T>G" "" "VUS" "ACMG" "0000373802" "10" "77" "9" "75315428" "75315428" "subst" "0" "02416" "TMC1_000053" "g.75315428T>G" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72700512T>G" "" "VUS" "ACMG" "0000373803" "20" "75" "9" "75315428" "75315428" "subst" "0" "02416" "TMC1_000053" "g.75315428T>G" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72700512T>G" "" "pathogenic" "" "0000373804" "20" "77" "9" "75315428" "75315428" "subst" "0" "02416" "TMC1_000053" "g.75315428T>G" "0/100 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "homozygous; certainly pathogenic" "Germline" "" "" "0" "" "" "g.72700512T>G" "" "pathogenic" "" "0000373805" "11" "99" "9" "75355127" "75355127" "subst" "0" "02416" "TMC1_000054" "g.75355127T>C" "0/102 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "" "0" "" "" "g.72740211T>C" "" "pathogenic" "" "0000373806" "11" "99" "9" "75355127" "75355127" "subst" "0" "02416" "TMC1_000054" "g.75355127T>C" "0/102 controls" "{PMID:Ganapathy 2014:24416283}" "" "" "heterozygous; potentially pathogenic" "Germline" "" "" "0" "" "" "g.72740211T>C" "" "pathogenic" "" "0000373807" "10" "99" "9" "75136789" "75136789" "subst" "0" "02416" "TMC1_000055" "g.75136789G>A" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs7022441" "0" "" "" "g.72521873G>A" "" "pathogenic" "" "0000373808" "20" "11" "9" "75136789" "75136789" "subst" "0" "02416" "TMC1_000055" "g.75136789G>A" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs7022441" "0" "" "" "g.72521873G>A" "" "benign" "" "0000373809" "10" "11" "9" "75231217" "75231217" "subst" "0" "02416" "TMC1_000057" "g.75231217G>A" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs10217204" "0" "" "" "g.72616301G>A" "" "VUS" "ACMG" "0000373810" "20" "11" "9" "75231217" "75231217" "subst" "0" "02416" "TMC1_000057" "g.75231217G>A" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs10217204" "0" "" "" "g.72616301G>A" "" "VUS" "ACMG" "0000373811" "10" "55" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000058" "g.75231331A>C" "0/300 controls" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "VUS" "" "0000373812" "20" "11" "9" "75231331" "75231331" "subst" "0" "02416" "TMC1_000058" "g.75231331A>C" "0/300 controls" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.72616415A>C" "" "benign" "" "0000373813" "0" "11" "9" "75231370" "75231370" "subst" "0" "02416" "TMC1_000059" "g.75231370A>G" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs7026304" "0" "" "" "g.72616454A>G" "" "benign" "" "0000373815" "3" "11" "9" "75231546" "75309744" "ins" "0" "02416" "TMC1_000060" "g.75231546_75309744insN[314]" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000373816" "10" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000061" "g.75303653C>T" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "benign" "" "0000373817" "20" "11" "9" "75303653" "75303653" "subst" "0.449438" "02416" "TMC1_000061" "g.75303653C>T" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs2589615" "0" "" "" "g.72688737C>T" "" "benign" "" "0000373818" "10" "11" "9" "75404176" "75404176" "subst" "0" "02416" "TMC1_000062" "g.75404176C>T" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000373819" "20" "11" "9" "75404176" "75404176" "subst" "0" "02416" "TMC1_000062" "g.75404176C>T" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000373820" "10" "11" "9" "75387805" "75387805" "subst" "0" "02416" "TMC1_000063" "g.75387805T>C" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs25011913" "0" "" "" "g.72772889T>C" "" "benign" "" "0000373821" "20" "11" "9" "75387805" "75387805" "subst" "0" "02416" "TMC1_000063" "g.75387805T>C" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs25011913" "0" "" "" "g.72772889T>C" "" "benign" "" "0000373822" "10" "11" "9" "75407437" "75407437" "subst" "0" "02416" "TMC1_000064" "g.75407437G>C" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs72733079" "0" "" "" "g.72792521G>C" "" "benign" "" "0000373823" "20" "11" "9" "75407437" "75407437" "subst" "0" "02416" "TMC1_000064" "g.75407437G>C" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs72733079" "0" "" "" "g.72792521G>C" "" "benign" "" "0000373824" "0" "11" "9" "75420231" "75420231" "subst" "0" "02416" "TMC1_000065" "g.75420231T>A" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs7860172" "0" "" "" "g.72805315T>A" "" "benign" "" "0000373825" "10" "11" "9" "75431076" "75431076" "subst" "0.0890638" "02416" "TMC1_000066" "g.75431076C>T" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs34532421" "0" "" "" "g.72816160C>T" "" "benign" "" "0000373826" "20" "11" "9" "75431076" "75431076" "subst" "0.0890638" "02416" "TMC1_000066" "g.75431076C>T" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs34532421" "0" "" "" "g.72816160C>T" "" "benign" "" "0000373827" "10" "11" "9" "75431249" "75431249" "subst" "0" "02416" "TMC1_000067" "g.75431249G>A" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs56349532" "0" "" "" "g.72816333G>A" "" "pathogenic" "" "0000373828" "20" "11" "9" "75431249" "75431249" "subst" "0" "02416" "TMC1_000067" "g.75431249G>A" "" "{PMID:Davoudi-dehaghani 2013:23523375}" "" "" "homozygous" "Germline" "" "rs56349532" "0" "" "" "g.72816333G>A" "" "likely pathogenic" "ACMG" "0000373829" "11" "99" "9" "75420407" "75420407" "subst" "8.12196E-6" "02416" "TMC1_000068" "g.75420407G>A" "" "{PMID:Baux, Vaché 2017:29196752}" "" "" "heterozygous" "Germline" "" "rs876657728" "0" "" "" "g.72805491G>A" "" "likely pathogenic" "ACMG" "0000373830" "3" "95" "9" "75366765" "75366765" "subst" "4.0653E-6" "02416" "TMC1_000069" "g.75366765G>A" "" "{PMID:Baux, Vaché 2017:29196752}" "" "" "" "Germline" "" "" "0" "" "" "g.72751849G>A" "" "pathogenic (recessive)" "" "0000538458" "0" "50" "9" "75309458" "75309458" "subst" "0" "02327" "TMC1_000102" "g.75309458G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72694542G>C" "" "VUS" "" "0000538459" "0" "30" "9" "75309587" "75309587" "subst" "0.000164305" "01943" "TMC1_000103" "g.75309587A>G" "" "" "" "TMC1(NM_138691.2):c.193A>G (p.K65E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72694671A>G" "" "likely benign" "" "0000538460" "0" "90" "9" "75315444" "75315444" "subst" "0" "02327" "TMC1_000104" "g.75315444G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72700528G>T" "" "pathogenic" "" "0000538461" "0" "30" "9" "75315444" "75315446" "del" "0" "01804" "TMC1_000105" "g.75315444_75315446del" "" "" "" "TMC1(NM_138691.2):c.247_249delGAA (p.(Glu83del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72700528_72700530del" "" "likely benign" "" "0000538462" "0" "90" "9" "75387450" "75387450" "del" "0" "01943" "TMC1_000106" "g.75387450del" "" "" "" "TMC1(NM_138691.2):c.863delG (p.(Ser288fs)), TMC1(NM_138691.2):c.863delG (p.S288Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72772534del" "" "pathogenic" "" "0000538463" "0" "90" "9" "75387452" "75387452" "subst" "0" "01943" "TMC1_000107" "g.75387452T>A" "" "" "" "TMC1(NM_138691.2):c.865T>A (p.F289I, p.(Phe289Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72772536T>A" "" "pathogenic" "" "0000538464" "0" "90" "9" "75387453" "75387454" "ins" "0" "01943" "TMC1_000108" "g.75387453_75387454insAA" "" "" "" "TMC1(NM_138691.2):c.866_867insAA (p.(Phe289fs)), TMC1(NM_138691.2):c.866_867insAA (p.F289Lfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72772537_72772538insAA" "" "pathogenic" "" "0000538466" "0" "90" "9" "75387455" "75387456" "ins" "0" "01943" "TMC1_000110" "g.75387455_75387456insAATACGC" "" "" "" "TMC1(NM_138691.2):c.868_869insAATACGC (p.L290Qfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72772539_72772540insAATACGC" "" "pathogenic" "" "0000538470" "0" "50" "9" "75435854" "75435854" "subst" "0" "01804" "TMC1_000113" "g.75435854T>A" "" "" "" "TMC1(NM_138691.2):c.1860T>A (p.(Asn620Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72820938T>A" "" "VUS" "" "0000538471" "0" "50" "9" "75435960" "75435960" "subst" "5.27945E-5" "02327" "TMC1_000114" "g.75435960G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72821044G>A" "" "VUS" "" "0000538472" "0" "50" "9" "75445381" "75445381" "subst" "0.000357726" "01943" "TMC1_000100" "g.75445381A>T" "" "" "" "TMC1(NM_138691.2):c.2144A>T (p.Y715F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72830465A>T" "" "VUS" "" "0000597065" "3" "70" "9" "75357436" "75357436" "subst" "0" "03388" "TMC1_000116" "g.75357436T>C" "" "" "david_lovd" "" "" "Not applicable" "" "" "0" "" "" "g.72742520T>C" "" "VUS" "" "0000612164" "0" "90" "9" "75303674" "75303674" "subst" "0" "02327" "TMC1_000033" "g.75303674T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72688758T>A" "" "pathogenic" "" "0000612165" "0" "50" "9" "75403326" "75403326" "subst" "5.28086E-5" "02327" "TMC1_000117" "g.75403326C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72788410C>G" "" "VUS" "" "0000652739" "1" "90" "9" "75309494" "75309494" "subst" "6.54563E-5" "03575" "TMC1_000004" "g.75309494C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908073}" "Germline" "" "rs121908073" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000656380" "0" "50" "9" "75431125" "75431125" "subst" "8.12803E-6" "02327" "TMC1_000118" "g.75431125T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72816209T>C" "" "VUS" "" "0000678709" "0" "90" "9" "75357364" "75357364" "subst" "4.06527E-6" "02327" "TMC1_000078" "g.75357364G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678710" "0" "50" "9" "75404150" "75404150" "subst" "2.43809E-5" "02327" "TMC1_000080" "g.75404150T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000699775" "0" "70" "9" "75431077" "75431077" "subst" "0" "03779" "TMC1_000008" "g.75431077G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs121908072" "0" "" "" "" "" "likely pathogenic" "" "0000712227" "0" "50" "9" "75404142" "75404142" "subst" "0" "03611" "TMC1_000119" "g.75404142G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PM3_P" "Germline/De novo (untested)" "" "" "0" "" "" "g.72789226G>A" "" "VUS" "ACMG" "0000712228" "0" "70" "9" "75431077" "75431077" "subst" "0" "03611" "TMC1_000008" "g.75431077G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.72816161G>A" "" "likely pathogenic" "ACMG" "0000712264" "0" "50" "9" "75407214" "75407214" "dup" "0" "03611" "TMC1_000120" "g.75407214dup" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "1512dupT" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.72792298dup" "" "likely pathogenic (recessive)" "ACMG" "0000712265" "0" "70" "9" "75431077" "75431077" "subst" "0" "03611" "TMC1_000008" "g.75431077G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PP1_S" "Germline/De novo (untested)" "" "" "0" "" "" "g.72816161G>A" "" "likely pathogenic" "ACMG" "0000712282" "0" "50" "9" "75387471" "75387471" "subst" "4.0653E-6" "03611" "TMC1_000122" "g.75387471C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2_P, PM3_P" "Germline/De novo (untested)" "" "" "0" "" "" "g.72772555C>T" "" "VUS" "ACMG" "0000712299" "0" "50" "9" "75404142" "75404142" "subst" "0" "03611" "TMC1_000119" "g.75404142G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712538" "0" "50" "9" "75406827" "75406827" "subst" "0" "03611" "TMC1_000123" "g.75406827G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PM3_P" "Germline/De novo (untested)" "" "" "0" "" "" "g.72791911G>A" "" "VUS" "ACMG" "0000712545" "0" "50" "9" "75406827" "75406827" "subst" "0" "03611" "TMC1_000123" "g.75406827G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000722562" "0" "50" "9" "75403272" "75403272" "subst" "0" "01943" "TMC1_000125" "g.75403272G>A" "" "" "" "TMC1(NM_138691.2):c.902G>A (p.G301D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722563" "0" "90" "9" "75404174" "75404174" "subst" "5.68796E-5" "02327" "TMC1_000005" "g.75404174C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000729805" "3" "90" "9" "75387360" "75387360" "subst" "0" "00000" "TMC1_000124" "g.75387360G>A" "" "{PMID:Chen 2018:29692870}" "" "" "" "Germline" "" "" "0" "" "" "g.72772444G>A" "" "pathogenic (recessive)" "" "0000729806" "1" "90" "9" "75406824" "75406824" "subst" "0" "00000" "TMC1_000126" "g.75406824T>G" "" "{PMID:Chen 2015:26011067}, {PMID:Chen 2018:29692870}" "" "" "" "Germline" "" "" "0" "" "" "g.72791908T>G" "" "pathogenic (recessive)" "" "0000729810" "2" "90" "9" "75406889" "75406889" "subst" "3.25055E-5" "00000" "TMC1_000127" "g.75406889G>A" "" "{PMID:Chen 2015:26011067}, {PMID:Chen 2018:29692870}" "" "" "" "Germline" "" "" "0" "" "" "g.72791973G>A" "" "pathogenic (recessive)" "" "0000760702" "3" "90" "9" "75435996" "75435996" "subst" "0" "03848" "TMC1_000128" "g.75435996A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.72821080A>G" "" "likely pathogenic (recessive)" "ACMG" "0000784121" "0" "50" "9" "75435933" "75435933" "subst" "2.03069E-5" "03779" "TMC1_000039" "g.75435933T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs138527651" "0" "" "" "" "" "VUS" "" "0000785804" "0" "50" "9" "75406910" "75406910" "subst" "6.50227E-5" "03779" "TMC1_000031" "g.75406910C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs372710475" "0" "" "" "" "" "VUS" "" "0000804190" "0" "90" "9" "75406900" "75406900" "subst" "0" "01943" "TMC1_000129" "g.75406900G>A" "" "" "" "TMC1(NM_138691.2):c.1323G>A (p.W441*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804191" "0" "30" "9" "75420357" "75420357" "subst" "5.27884E-5" "01943" "TMC1_000130" "g.75420357G>A" "" "" "" "TMC1(NM_138691.2):c.1626G>A (p.G542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811201" "3" "11" "9" "75231331" "75231331" "subst" "0" "00110" "TMC1_000003" "g.75231331A>C" "" "Vaché et al., submitted" "" "" "Marker associated to the c.627C>T splicing alteration" "Germline" "" "rs937270834" "0" "" "" "g.72616415A>C" "" "benign" "ACMG" "0000811202" "3" "99" "9" "75366857" "75366857" "subst" "2.43926E-5" "00110" "TMC1_000131" "g.75366857C>T" "" "Vaché et al., submitted" "" "" "Shown in minigenes to alter splicing by altering regulatory elements. PP3 PP6 PM7 PS3" "Germline" "yes" "rs748580616" "0" "" "" "g.72751941C>T" "{CV:1219297}" "pathogenic (recessive)" "ACMG" "0000813023" "3" "70" "9" "75435933" "75435933" "subst" "2.03069E-5" "00000" "TMC1_000039" "g.75435933T>C" "" "{PMID:Ehrenberg 2019:31814694}" "" "FAM161A (NM_001201543; OMIM: 613596): c.1355_1356del; p.Thr452Serfs*3 (hom) (RP), TMC1 (NM_138691; OMIM: 606706): c.1939T>C; p.Ser647Pro (hom) (HL)" "homozygous" "Germline" "yes" "" "0" "" "" "g.72821017T>C" "" "likely pathogenic" "" "0000841406" "3" "90" "9" "75407236" "75407236" "subst" "0.000357628" "03194" "TMC1_000011" "g.75407236C>T" "" "{PMID:Kraatari-Tiri 2022:35407445}" "" "" "ACMG PVS1, PM2, PP3, PP5" "Germline" "yes" "rs200171616" "0" "" "" "g.72792320C>T" "" "pathogenic (recessive)" "ACMG" "0000841407" "21" "70" "9" "75403338" "75403338" "subst" "3.65553E-5" "03194" "TMC1_000132" "g.75403338A>G" "" "{PMID:Kraatari-Tiri 2022:35407445}" "" "" "ACMG PM2, PM3, PP1, PP3" "Germline" "yes" "rs746724027" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000841408" "0" "70" "9" "75431129" "75431129" "subst" "0.000593366" "03194" "TMC1_000043" "g.75431129A>G" "" "{PMID:Kraatari-Tiri 2022:35407445}" "" "" "ACMG PS3, PM3, PM2" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000841409" "21" "90" "9" "75431077" "75431077" "subst" "0" "03194" "TMC1_000008" "g.75431077G>A" "" "{PMID:Kraatari-Tiri 2022:35407445}" "" "" "ACMG PP5, PM1, PM2, PM5" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000861735" "0" "30" "9" "75431068" "75431068" "subst" "0.000211298" "01943" "TMC1_000133" "g.75431068A>G" "" "" "" "TMC1(NM_138691.2):c.1705A>G (p.T569A), TMC1(NM_138691.3):c.1705A>G (p.(Thr569Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869793" "11" "90" "9" "75403338" "75403338" "subst" "3.65553E-5" "00006" "TMC1_000132" "g.75403338A>G" "" "{PMID:Kraatari-Tiri 2022:35407445}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000869794" "2" "90" "9" "75407236" "75407236" "subst" "0.000357628" "00006" "TMC1_000011" "g.75407236C>T" "" "{PMID:Kraatari-Tiri 2022:35407445}" "" "" "AMCG PS3, PM3, PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000869795" "3" "90" "9" "75407236" "75407236" "subst" "0.000357628" "00006" "TMC1_000011" "g.75407236C>T" "" "{PMID:Kraatari-Tiri 2022:35407445}" "" "" "ACMG PVS1, PM2, PP3, PP5" "Germline" "" "rs200171616" "0" "" "" "g.72792320C>T" "" "pathogenic (recessive)" "ACMG" "0000869796" "3" "90" "9" "75407236" "75407236" "subst" "0.000357628" "00006" "TMC1_000011" "g.75407236C>T" "" "{PMID:Kraatari-Tiri 2022:35407445}" "" "" "ACMG PVS1, PM2, PP3, PP5" "Germline" "" "rs200171616" "0" "" "" "g.72792320C>T" "" "pathogenic (recessive)" "ACMG" "0000869797" "3" "90" "9" "75407236" "75407236" "subst" "0.000357628" "00006" "TMC1_000011" "g.75407236C>T" "" "{PMID:Kraatari-Tiri 2022:35407445}" "" "" "ACMG PVS1, PM2, PP3, PP5" "Germline" "" "rs200171616" "0" "" "" "g.72792320C>T" "" "pathogenic (recessive)" "ACMG" "0000869798" "1" "90" "9" "75407236" "75407236" "subst" "0.000357628" "00006" "TMC1_000011" "g.75407236C>T" "" "{PMID:Kraatari-Tiri 2022:35407445}" "" "" "ACMG PVS1, PM2, PP3, PP5" "Germline" "" "rs200171616" "0" "" "" "g.72792320C>T" "" "pathogenic (recessive)" "ACMG" "0000869799" "2" "90" "9" "75431129" "75431129" "subst" "0.000593366" "00006" "TMC1_000043" "g.75431129A>G" "" "{PMID:Kraatari-Tiri 2022:35407445}" "" "" "ACMG PS3, PM3, PM2" "Germline" "" "rs370898981" "0" "" "" "g.72816213A>G" "" "pathogenic (recessive)" "ACMG" "0000874146" "0" "50" "9" "75404219" "75404219" "subst" "0" "03779" "TMC1_000134" "g.75404219T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000874147" "0" "50" "9" "75404219" "75404219" "subst" "0" "03779" "TMC1_000134" "g.75404219T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000909827" "3" "90" "9" "75420353" "75420353" "subst" "0" "04147" "TMC1_000135" "g.75420353T>A" "" "{PMID:Wonkam 2022:35440622}" "" "" "Father not tested" "Germline/De novo (untested)" "" "" "" "" "" "g.72805437T>A" "" "pathogenic (recessive)" "ACMG" "0000943904" "1" "90" "9" "75309544" "75309544" "del" "0" "00006" "TMC1_000045" "g.75309544del" "" "{PMID:Sang 2019:31379920}" "" "150delT" "" "Germline" "" "" "0" "" "" "g.72694628del" "" "pathogenic (recessive)" "ACMG" "0000943918" "2" "90" "9" "75404235" "75404235" "subst" "0" "00006" "TMC1_000141" "g.75404235T>C" "" "{PMID:Sang 2019:31379920}" "" "" "" "Germline" "" "" "0" "" "" "g.72789319T>C" "" "pathogenic (recessive)" "ACMG" "0000944228" "3" "90" "9" "75309494" "75309494" "subst" "6.54563E-5" "00006" "TMC1_000004" "g.75309494C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72694578C>T" "" "pathogenic (recessive)" "" "0000944229" "3" "90" "9" "75309494" "75309494" "subst" "6.54563E-5" "00006" "TMC1_000004" "g.75309494C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72694578C>T" "" "pathogenic (recessive)" "" "0000944230" "3" "90" "9" "75366826" "75366826" "subst" "8.12632E-6" "00006" "TMC1_000136" "g.75366826A>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72751910A>T" "" "pathogenic (recessive)" "" "0000944231" "3" "90" "9" "75403315" "75403315" "subst" "0" "00006" "TMC1_000137" "g.75403315G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72788399G>A" "" "pathogenic (recessive)" "ACMG" "0000944232" "3" "90" "9" "75404123" "75404123" "subst" "5.69152E-5" "00006" "TMC1_000021" "g.75404123G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72789207G>A" "" "pathogenic (recessive)" "" "0000944233" "21" "90" "9" "75404152" "75404152" "subst" "0" "00006" "TMC1_000139" "g.75404152C>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72789236C>G" "" "pathogenic (recessive)" "ACMG" "0000944234" "3" "90" "9" "75404218" "75404218" "subst" "0" "00006" "TMC1_000140" "g.75404218G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72789302G>A" "" "pathogenic (recessive)" "ACMG" "0000944235" "3" "90" "9" "75404235" "75404235" "subst" "0" "00006" "TMC1_000141" "g.75404235T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72789319T>C" "" "pathogenic (recessive)" "ACMG" "0000944236" "20" "70" "9" "75406836" "75406836" "subst" "0" "00006" "TMC1_000142" "g.75406836G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72791920G>A" "" "likely pathogenic (recessive)" "ACMG" "0000944237" "3" "90" "9" "75406910" "75406910" "subst" "6.50227E-5" "00006" "TMC1_000031" "g.75406910C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72791994C>T" "" "pathogenic (recessive)" "" "0000944238" "3" "90" "9" "75406940" "75406940" "subst" "0" "00006" "TMC1_000143" "g.75406940T>C" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72792024T>C" "" "pathogenic (recessive)" "" "0000944239" "3" "90" "9" "75407245" "75407245" "subst" "0" "00006" "TMC1_000018" "g.75407245T>C" "" "{PMID:Richard 2019: 30303587}" "" "1543C>T" "" "Germline" "" "" "0" "" "" "g.72792329T>C" "" "pathogenic (recessive)" "" "0000944240" "3" "70" "9" "75431091" "75431091" "subst" "0" "00006" "TMC1_000145" "g.75431091C>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72816175C>G" "" "likely pathogenic (recessive)" "ACMG" "0000944241" "3" "90" "9" "75431116" "75431117" "ins" "0" "00006" "TMC1_000146" "g.75431116_75431117insA" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72816200_72816201insA" "" "pathogenic (recessive)" "ACMG" "0000944242" "3" "90" "9" "75441816" "75441816" "subst" "0" "00006" "TMC1_000024" "g.75441816G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72826900G>A" "" "pathogenic (recessive)" "" "0000944243" "3" "90" "9" "75441816" "75441816" "subst" "0" "00006" "TMC1_000024" "g.75441816G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72826900G>A" "" "pathogenic (recessive)" "" "0000944295" "11" "90" "9" "75435804" "75435804" "subst" "8.12599E-6" "00006" "TMC1_000001" "g.75435804C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72820888C>T" "" "pathogenic (recessive)" "" "0000944296" "11" "90" "9" "75435782" "75435782" "subst" "0" "00006" "TMC1_000147" "g.75435782C>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.72820866C>A" "" "pathogenic (recessive)" "" "0000944301" "1" "50" "9" "75431068" "75431068" "subst" "0.000211298" "00006" "TMC1_000133" "g.75431068A>G" "" "{PMID:Ozieblo 2019:31655630}" "" "" "variant found in in normal hearing individuals" "Germline" "no" "" "0" "" "" "g.72816152A>G" "" "likely benign" "" "0000944351" "0" "70" "9" "75403350" "75403350" "subst" "4.0618E-6" "00006" "TMC1_000138" "g.75403350A>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.72788434A>T" "" "likely pathogenic (dominant)" "" "0000944497" "3" "90" "9" "75366826" "75366826" "subst" "8.12632E-6" "00006" "TMC1_000136" "g.75366826A>T" "" "{PMID:Imtiaz 2016:26879195}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs141523206" "0" "" "" "g.72751910A>T" "" "pathogenic (recessive)" "" "0000944498" "3" "90" "9" "75404175" "75404175" "subst" "1.21885E-5" "00006" "TMC1_000006" "g.75404175G>A" "" "{PMID:Hilgert 2009:18985073}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs772640673" "0" "" "" "g.72789259G>A" "" "pathogenic (recessive)" "" "0000944499" "3" "90" "9" "75406982" "75406982" "subst" "0" "00006" "TMC1_000144" "g.75406982G>T" "" "{PMID:Imtiaz 2016:26879195}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.72792066G>T" "" "pathogenic (recessive)" "" "0000944500" "3" "90" "9" "75435782" "75435782" "subst" "0" "00006" "TMC1_000147" "g.75435782C>A" "" "{PMID:Imtiaz 2016:26879195}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.72820866C>A" "" "pathogenic (recessive)" "" "0000960214" "0" "70" "9" "75366775" "75366775" "subst" "0" "00006" "TMC1_000148" "g.75366775G>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PM3_S, PM5, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.72751859G>T" "" "likely pathogenic" "" "0000960215" "0" "90" "9" "75309494" "75309494" "subst" "6.54563E-5" "00006" "TMC1_000004" "g.75309494C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PVS1, PM2_P, PM3, PP1_S" "Germline/De novo (untested)" "" "" "0" "" "" "g.72694578C>T" "" "pathogenic" "" "0000960216" "0" "50" "9" "75441808" "75441808" "subst" "1.62483E-5" "00006" "TMC1_000121" "g.75441808T>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PM3_P, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.72826892T>A" "" "VUS" "" "0000960323" "3" "70" "9" "75431115" "75431115" "subst" "0" "04614" "TMC1_000149" "g.75431115A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.72816199A>C" "" "likely pathogenic (recessive)" "ACMG" "0000978764" "0" "50" "9" "75404122" "75404122" "subst" "5.28481E-5" "01804" "TMC1_000150" "g.75404122C>T" "" "" "" "TMC1(NM_138691.3):c.1113C>T (p.(Phe371=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978765" "0" "50" "9" "75431068" "75431068" "subst" "0.000211298" "01804" "TMC1_000133" "g.75431068A>G" "" "" "" "TMC1(NM_138691.2):c.1705A>G (p.T569A), TMC1(NM_138691.3):c.1705A>G (p.(Thr569Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997954" "0" "70" "9" "75387450" "75387450" "del" "0" "01804" "TMC1_000106" "g.75387450del" "" "" "" "TMC1(NM_138691.2):c.863delG (p.(Ser288fs)), TMC1(NM_138691.2):c.863delG (p.S288Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997955" "0" "70" "9" "75387452" "75387452" "subst" "0" "01804" "TMC1_000107" "g.75387452T>A" "" "" "" "TMC1(NM_138691.2):c.865T>A (p.F289I, p.(Phe289Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997956" "0" "70" "9" "75387453" "75387454" "ins" "0" "01804" "TMC1_000108" "g.75387453_75387454insAA" "" "" "" "TMC1(NM_138691.2):c.866_867insAA (p.(Phe289fs)), TMC1(NM_138691.2):c.866_867insAA (p.F289Lfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037579" "0" "50" "9" "75355035" "75355035" "subst" "0" "01804" "TMC1_000151" "g.75355035G>A" "" "" "" "TMC1(NM_138691.3):c.363G>A (p.(Lys121=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037580" "0" "90" "9" "75431129" "75431129" "subst" "0.000593366" "01804" "TMC1_000043" "g.75431129A>G" "" "" "" "TMC1(NM_138691.2):c.1763+3A>G, TMC1(NM_138691.3):c.1763+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037581" "0" "50" "9" "75435840" "75435840" "subst" "4.06283E-5" "01804" "TMC1_000086" "g.75435840G>A" "" "" "" "TMC1(NM_138691.2):c.1846G>A (p.V616I), TMC1(NM_138691.3):c.1846G>A (p.(Val616Ile))" "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 TMC1 ## Count = 443 "{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "0000089808" "00021219" "90" "15" "0" "15" "0" "c.15dup" "r.(?)" "p.(Val6Serfs*13)" "5" "" "0000089809" "00021219" "90" "229" "0" "229" "0" "c.229del" "r.(?)" "p.(Arg77Glufs*16)" "7" "" "0000089810" "00021219" "90" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Pro225Leu)" "12" "" "0000089811" "00021219" "90" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "" "0000090009" "00021219" "50" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Trp153*)" "" "" "0000090010" "00021219" "50" "535" "1" "535" "1" "c.535+1G>C" "r.spl?" "p.?" "" "" "0000090013" "00021219" "50" "1141" "0" "1141" "0" "c.1141T>A" "r.(?)" "p.(Tyr381Asn)" "" "" "0000090014" "00021219" "50" "1224" "1" "1224" "1" "c.1224+1G>T" "r.spl?" "p.?" "" "" "0000091217" "00021219" "90" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "" "0000091218" "00021219" "90" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "" "0000091219" "00021219" "90" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "" "0000091233" "00021219" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389*)" "15" "" "0000091234" "00021219" "90" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "" "0000091235" "00021219" "90" "1210" "0" "1210" "0" "c.1210T>C" "r.(?)" "p.(Trp404Arg)" "15" "" "0000091236" "00021219" "90" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "" "0000091304" "00021219" "90" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "" "0000091305" "00021219" "90" "229" "0" "229" "0" "c.229del" "r.(?)" "p.(Arg77Glufs*16)" "7" "" "0000096178" "00021219" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Pro225Leu)" "11" "" "0000096179" "00021219" "90" "1764" "0" "1764" "0" "c.1764G>A" "r.(spl?)" "p.(Trp588*)" "20" "" "0000128976" "00021219" "70" "646" "0" "646" "0" "c.646del" "r.(?)" "p.(Leu216Serfs*54)" "" "" "0000128977" "00021219" "70" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264*)" "" "" "0000255691" "00021219" "90" "1763" "3" "1763" "3" "c.1763+3A>G" "r.spl?" "p.?" "" "" "0000316652" "00021219" "50" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Val616Ile)" "" "" "0000316653" "00021219" "30" "696" "0" "696" "0" "c.696C>T" "r.(?)" "p.(Ala232=)" "" "" "0000338699" "00021219" "10" "-468" "0" "-468" "0" "c.-468G>A" "r.(?)" "p.(=)" "" "" "0000338700" "00021219" "10" "-219" "0" "-219" "0" "c.-219A>G" "r.(?)" "p.(=)" "" "" "0000338701" "00021219" "90" "536" "-1" "536" "-1" "c.536-1G>A" "r.spl?" "p.?" "" "" "0000340432" "00021219" "10" "1713" "0" "1713" "0" "c.1713C>T" "r.(?)" "p.(Phe571=)" "" "" "0000340715" "00021219" "10" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Asp15=)" "" "" "0000341290" "00021219" "50" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Ala237Thr)" "" "" "0000342463" "00021219" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Ter)" "" "" "0000342679" "00021219" "90" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34Ter)" "" "" "0000342913" "00021219" "70" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445Cys)" "" "" "0000343034" "00021219" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Ter)" "" "" "0000344140" "00021219" "70" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Asp572Asn)" "" "" "0000345565" "00021219" "10" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Glu81Lys)" "" "" "0000347852" "00021219" "10" "1457" "0" "1457" "0" "c.1457T>C" "r.(?)" "p.(Met486Thr)" "" "" "0000347870" "00021219" "90" "1763" "3" "1763" "3" "c.1763+3A>G" "r.spl?" "p.?" "" "" "0000347973" "00021219" "30" "543" "0" "543" "0" "c.543T>G" "r.(?)" "p.(Phe181Leu)" "" "" "0000350181" "00021219" "50" "2144" "0" "2144" "0" "c.2144A>T" "r.(?)" "p.(Tyr715Phe)" "" "" "0000373519" "00021219" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "Cytoplasmic 3 (462-634)" "0000373520" "00021219" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "Cytoplasmic 3 (462-634)" "0000373521" "00021219" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "Cytoplasmic 3 (462-634)" "0000373522" "00021219" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "Cytoplasmic 3 (462-634)" "0000373523" "00021219" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "Cytoplasmic 3 (462-634)" "0000373524" "00021219" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "Cytoplasmic 3 (462-634)" "0000373525" "00021219" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "Cytoplasmic 3 (462-634)" "0000373526" "00021219" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "Cytoplasmic 3 (462-634)" "0000373527" "00021219" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "Cytoplasmic 3 (462-634)" "0000373528" "00021219" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "" "0000373529" "00021219" "99" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604*)" "20" "" "0000373530" "00021219" "99" "236" "1" "236" "1" "c.236+1G>A" "r.(?)" "p.(?)" "7i" "" "0000373531" "00021219" "99" "236" "1" "236" "1" "c.236+1G>A" "r.(?)" "p.(?)" "7i" "" "0000373532" "00021219" "99" "236" "1" "236" "1" "c.236+1G>A" "r.(?)" "p.(?)" "7i" "" "0000373533" "00021219" "99" "236" "1" "236" "1" "c.236+1G>A" "r.(?)" "p.(?)" "7i" "" "0000373534" "00021219" "99" "236" "1" "236" "1" "c.236+1G>A" "r.(?)" "p.(?)" "7i" "" "0000373535" "00021219" "99" "236" "1" "236" "1" "c.236+1G>A" "r.(?)" "p.(?)" "7i" "" "0000373536" "00021219" "99" "236" "1" "236" "1" "c.236+1G>A" "r.(?)" "p.(?)" "7i" "" "0000373537" "00021219" "99" "236" "1" "236" "1" "c.236+1G>A" "r.(?)" "p.(?)" "7i" "" "0000373538" "00021219" "55" "236" "1" "236" "1" "c.236+1G>A" "r.(?)" "p.(?)" "7i" "" "0000373539" "00021219" "55" "236" "1" "236" "1" "c.236+1G>A" "r.(?)" "p.(?)" "7i" "" "0000373540" "00021219" "55" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(?)" "3" "" "0000373541" "00021219" "55" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(?)" "3" "" "0000373542" "00021219" "55" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(?)" "3" "" "0000373543" "00021219" "55" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(?)" "3" "" "0000373544" "00021219" "55" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(?)" "3" "" "0000373545" "00021219" "55" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(?)" "3" "" "0000373546" "00021219" "55" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(?)" "3" "" "0000373547" "00021219" "55" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(?)" "3" "" "0000373548" "00021219" "55" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(?)" "3" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373549" "00021219" "55" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(?)" "3" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373550" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "7" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373551" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "7" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373552" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "7" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373553" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "7" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373554" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "7" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373555" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "7" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373556" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "7" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373557" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "7" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373558" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "7" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373559" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "7" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373560" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "7" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373561" "00021219" "99" "100" "0" "100" "0" "c.100C>T" "r.(?)" 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"p.(Arg512*)" "17" "" "0000373670" "00021219" "99" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512*)" "17" "" "0000373671" "00021219" "99" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Arg100Aspfs*3)" "8" "" "0000373672" "00021219" "99" "298" "0" "298" "0" "c.298del" "r.(?)" "p.(Arg100Aspfs*3)" "8" "" "0000373673" "00021219" "99" "884" "1" "884" "1" "c.884+1G>A" "r.(?)" "p.(?)" "13i" "" "0000373674" "00021219" "99" "884" "1" "884" "1" "c.884+1G>A" "r.(?)" "p.(?)" "13i" "" "0000373675" "00021219" "55" "1960" "0" "1960" "0" "c.1960A>G" "r.(?)" "p.(Met654Val)" "20" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373676" "00021219" "55" "1960" "0" "1960" "0" "c.1960A>G" "r.(?)" "p.(Met654Val)" "20" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373677" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373678" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373679" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373680" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373681" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373682" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373683" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373684" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "Cytoplasmic 1 (1-199);Highly Charged (4-178)" "0000373685" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "" "0000373686" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "" "0000373687" "00021219" "99" "16" "1" "16" "1" "c.16+1G>T" "r.(?)" "p.(?)" "5i" "Cytoplasmic 3 (462-634)" "0000373688" "00021219" "99" "16" "1" "16" "1" "c.16+1G>T" "r.(?)" "p.(?)" "5i" "Cytoplasmic 3 (462-634)" "0000373689" "00021219" "55" "1541" "0" "1541" "0" "c.1541C>T" "r.(?)" "p.(Pro514Leu)" "17" "Cytoplasmic 3 (462-634)" "0000373690" "00021219" "55" "1541" "0" "1541" "0" "c.1541C>T" "r.(?)" "p.(Pro514Leu)" "17" "Cytoplasmic 3 (462-634)" "0000373691" "00021219" "55" "1543" "0" "1543" "0" "c.1543T>C" "r.(?)" "p.(Cys515Arg)" "17" "Cytoplasmic 3 (462-634)" "0000373692" "00021219" "55" "1543" "0" "1543" "0" "c.1543T>C" "r.(?)" "p.(Cys515Arg)" "17" "Cytoplasmic 3 (462-634)" "0000373693" "00021219" "55" "1543" "0" "1543" "0" "c.1543T>C" "r.(?)" "p.(Cys515Arg)" "17" "Cytoplasmic 3 (462-634)" "0000373694" "00021219" "55" "1543" "0" "1543" "0" "c.1543T>C" "r.(?)" "p.(Cys515Arg)" "17" "Cytoplasmic 3 (462-634)" "0000373695" "00021219" "55" "1714" "0" "1714" "0" "c.1714G>C" "r.(?)" "p.(Asp572His)" "19" "Cytoplasmic 3 (462-634)" "0000373696" "00021219" "55" "1714" "0" "1714" "0" "c.1714G>C" "r.(?)" "p.(Asp572His)" "19" "Cytoplasmic 3 (462-634)" "0000373697" "00021219" "55" "1714" "0" "1714" "0" "c.1714G>C" "r.(?)" "p.(Asp572His)" "19" "Cytoplasmic 3 (462-634)" "0000373698" "00021219" "55" "1714" "0" "1714" "0" "c.1714G>C" "r.(?)" "p.(Asp572His)" "19" "Cytoplasmic 3 (462-634)" "0000373699" "00021219" "55" "1714" "0" "1714" "0" "c.1714G>C" "r.(?)" "p.(Asp572His)" "19" "Transmembrane 2 (273-293)" "0000373700" "00021219" "55" "1714" "0" "1714" "0" "c.1714G>C" "r.(?)" "p.(Asp572His)" "19" "Transmembrane 2 (273-293)" "0000373701" "00021219" "55" "830" "0" "830" "0" "c.830A>G" "r.(?)" "p.(Tyr277Cys)" "13" "Transmembrane 3 (366-386)" "0000373702" "00021219" "55" "830" "0" "830" "0" "c.830A>G" "r.(?)" "p.(Tyr277Cys)" "13" "Transmembrane 3 (366-386)" "0000373703" "00021219" "75" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "15" "Transmembrane 3 (366-386)" "0000373704" "00021219" "75" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "15" "Transmembrane 3 (366-386)" "0000373705" "00021219" "55" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "15" "Transmembrane 3 (366-386)" "0000373706" "00021219" "55" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "15" "Transmembrane 3 (366-386)" "0000373707" "00021219" "75" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "15" "Transmembrane 4 (441-461)" "0000373708" "00021219" "75" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "15" "Transmembrane 4 (441-461)" "0000373709" "00021219" "55" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Arg445His)" "16" "Transmembrane 4 (441-461)" "0000373710" "00021219" "55" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Arg445His)" "16" "Transmembrane 4 (441-461)" "0000373711" "00021219" "55" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Arg445His)" "16" "Transmembrane 4 (441-461)" "0000373712" "00021219" "55" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Arg445His)" "16" "Extracellular 3 (656-699)" "0000373713" "00021219" "55" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Arg445His)" "16" "Extracellular 3 (656-699)" "0000373714" "00021219" "55" "2004" "0" "2004" "0" "c.2004T>G" "r.(?)" "p.(Ser668Arg)" "21" "Extracellular 3 (656-699)" "0000373715" "00021219" "55" "2004" "0" "2004" "0" "c.2004T>G" "r.(?)" "p.(Ser668Arg)" "21" "Extracellular 3 (656-699)" "0000373716" "00021219" "55" "2004" "0" "2004" "0" "c.2004T>G" "r.(?)" "p.(Ser668Arg)" "21" "Extracellular 3 (656-699)" "0000373717" "00021219" "55" "2004" "0" "2004" "0" "c.2004T>G" "r.(?)" "p.(Ser668Arg)" "21" "Extracellular 3 (656-699)" "0000373718" "00021219" "55" "2004" "0" "2004" "0" "c.2004T>G" "r.(?)" "p.(Ser668Arg)" "21" "Extracellular 3 (656-699)" "0000373719" "00021219" "55" "2004" "0" "2004" "0" "c.2004T>G" "r.(?)" "p.(Ser668Arg)" "21" "Extracellular 3 (656-699)" "0000373720" "00021219" "55" "2035" "0" "2035" "0" "c.2035G>A" "r.(?)" "p.(Glu679Lys)" "21" "" "0000373721" "00021219" "55" "2035" "0" "2035" "0" "c.2035G>A" "r.(?)" "p.(Glu679Lys)" "21" "" "0000373722" "00021219" "55" "1763" "5" "1763" "5" "c.1763+5G>A" "r.(?)" "p.(?)" "19i" "" "0000373723" "00021219" "55" "1763" "5" "1763" "5" "c.1763+5G>A" "r.(?)" "p.(?)" "19i" "" "0000373724" "00021219" "55" "1763" "5" "1763" "5" "c.1763+5G>A" "r.(?)" "p.(?)" "19i" "" "0000373725" "00021219" "55" "1763" "5" "1763" "5" "c.1763+5G>A" "r.(?)" "p.(?)" "19i" "" "0000373726" "00021219" "55" "1763" "5" "1763" "5" "c.1763+5G>A" "r.(?)" "p.(?)" "19i" "" "0000373727" "00021219" "55" "1763" "5" "1763" "5" "c.1763+5G>A" "r.(?)" "p.(?)" "19i" "" "0000373728" "00021219" "55" "1763" "5" "1763" "5" "c.1763+5G>A" "r.(?)" "p.(?)" "19i" "Extracellular 1 (221-272)" "0000373729" "00021219" "55" "1763" "5" "1763" "5" "c.1763+5G>A" "r.(?)" "p.(?)" "19i" "Extracellular 1 (221-272)" "0000373730" "00021219" "55" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Tyr259Cys)" "13" "Transmembrane 2 (273-293)" "0000373731" "00021219" "55" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Tyr259Cys)" "13" "Transmembrane 2 (273-293)" "0000373732" "00021219" "55" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "13" "Cytoplasmic 2 (294-365)" "0000373733" "00021219" "55" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "13" "Cytoplasmic 2 (294-365)" "0000373734" "00021219" "99" "1083" "0" "1087" "0" "c.1083_1087del" "r.(?)" "p.(Arg362Profs*6)" "15" "Transmembrane 4 (441-461)" "0000373735" "00021219" "99" "1083" "0" "1087" "0" "c.1083_1087del" "r.(?)" "p.(Arg362Profs*6)" "15" "Transmembrane 4 (441-461)" "0000373736" "00021219" "55" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Gly444Arg)" "16" "Cytoplasmic 3 (462-634);Transmembrane 5 (635-655);Extracellular 3 (656-699);Transmembrane 6 (700-720);Cytoplasmic 4 (721-760);Poly-Ala (749-757)" "0000373737" "00021219" "55" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Gly444Arg)" "16" "Cytoplasmic 3 (462-634);Transmembrane 5 (635-655);Extracellular 3 (656-699);Transmembrane 6 (700-720);Cytoplasmic 4 (721-760);Poly-Ala (749-757)" "0000373738" "00021219" "99" "1566" "2159" "2661" "1271" "c.1566+2159_*378+1271del" "r.(?)" "p.(?)" "17i_24" "Transmembrane 4 (441-461)" "0000373739" "00021219" "99" "1566" "2159" "2661" "1271" "c.1566+2159_*378+1271del" "r.(?)" "p.(?)" "17i_24" "Transmembrane 4 (441-461)" "0000373740" "00021219" "75" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445Cys)" "16" "Transmembrane 4 (441-461)" "0000373741" "00021219" "55" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445Cys)" "16" "Transmembrane 4 (441-461)" "0000373742" "00021219" "75" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445Cys)" "16" "Extracellular 3 (656-699)" "0000373743" "00021219" "75" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445Cys)" "16" "Extracellular 3 (656-699)" "0000373744" "00021219" "55" "2030" "0" "2030" "0" "c.2030T>C" "r.(?)" "p.(Ile677Thr)" "21" "" "0000373745" "00021219" "55" "2030" "0" "2030" "0" "c.2030T>C" "r.(?)" "p.(Ile677Thr)" "21" "" "0000373746" "00021219" "55" "64" "2" "64" "2" "c.64+2T>A" "r.(?)" "p.(?)" "6i" "" "0000373747" "00021219" "55" "64" "2" "64" "2" "c.64+2T>A" "r.(?)" "p.(?)" "6i" "" "0000373748" "00021219" "55" "64" "2" "64" "2" "c.64+2T>A" "r.(?)" "p.(?)" "6i" "" "0000373749" "00021219" "55" "64" "2" "64" "2" "c.64+2T>A" "r.(?)" "p.(?)" "6i" "" "0000373750" "00021219" "11" "17" "-17308" "17" "-17308" "c.17-17308A>T" "r.(=)" "p.(=)" "5i" "" "0000373751" "00021219" "11" "17" "-17308" "17" "-17308" "c.17-17308A>T" "r.(=)" "p.(=)" "5i" "" "0000373752" "00021219" "11" "16" "1479" "16" "1479" "c.16+1479C>T" "r.(=)" "p.(=)" "5i" "" "0000373753" "00021219" "11" "16" "1479" "16" "1479" "c.16+1479C>T" "r.(=)" "p.(=)" "5i" "" "0000373754" "00021219" "11" "65" "-316" "65" "-316" "c.65-316G>A" "r.(=)" "p.(=)" "6i" "" "0000373755" "00021219" "11" "65" "-316" "65" "-316" "c.65-316G>A" "r.(=)" "p.(=)" "6i" "" "0000373756" "00021219" "11" "65" "-316" "65" "-316" "c.65-316G>A" "r.(=)" "p.(=)" "6i" "" "0000373757" "00021219" "11" "65" "-316" "65" "-316" "c.65-316G>A" "r.(=)" "p.(=)" "6i" "" "0000373758" "00021219" "11" "65" "-316" "65" "-316" "c.65-316G>A" "r.(=)" "p.(=)" "6i" "" "0000373759" "00021219" "11" "65" "-316" "65" "-316" "c.65-316G>A" "r.(=)" "p.(=)" "6i" "" "0000373760" "00021219" "11" "236" "216" "236" "216" "c.236+216T>C" "r.(=)" "p.(=)" "7i" "" "0000373761" "00021219" "11" "236" "216" "236" "216" "c.236+216T>C" "r.(=)" "p.(=)" "7i" "" "0000373762" "00021219" "11" "236" "216" "236" "216" "c.236+216T>C" "r.(=)" "p.(=)" "7i" "" "0000373763" "00021219" "11" "236" "216" "236" "216" "c.236+216T>C" "r.(=)" "p.(=)" "7i" "" "0000373764" "00021219" "11" "236" "216" "236" "216" "c.236+216T>C" "r.(=)" "p.(=)" "7i" "Cytoplasmic 3 (462-634)" "0000373765" "00021219" "11" "236" "216" "236" "216" "c.236+216T>C" "r.(=)" "p.(=)" "7i" "Cytoplasmic 3 (462-634)" "0000373766" "00021219" "99" "1589" "0" "1590" "0" "c.1589_1590del" "r.(?)" "p.(Ser530*)" "18" "Transmembrane 5 (635-655)" "0000373767" "00021219" "99" "1589" "0" "1590" "0" "c.1589_1590del" "r.(?)" "p.(Ser530*)" "18" "Transmembrane 5 (635-655)" "0000373768" "00021219" "55" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "Transmembrane 5 (635-655)" "0000373769" "00021219" "55" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "Transmembrane 5 (635-655)" "0000373770" "00021219" "55" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "Transmembrane 5 (635-655)" "0000373771" "00021219" "55" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "Transmembrane 5 (635-655)" "0000373772" "00021219" "55" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "Transmembrane 5 (635-655)" "0000373773" "00021219" "55" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "Transmembrane 5 (635-655)" "0000373774" "00021219" "55" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "Transmembrane 5 (635-655)" "0000373775" "00021219" "55" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "Extracellular 2 (387-440)" "0000373776" "00021219" "55" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "20" "Cytoplasmic 1 (1-199)" "0000373777" "00021219" "55" "1210" "0" "1210" "0" "c.1210T>C" "r.(?)" "p.(Trp404Arg)" "15" "Cytoplasmic 1 (1-199)" "0000373778" "00021219" "99" "582" "0" "582" "0" "c.582G>A" "r.(?)" "p.(Trp194*)" "11" "Cytoplasmic 3 (462-634)" "0000373779" "00021219" "99" "582" "0" "582" "0" "c.582G>A" "r.(?)" "p.(Trp194*)" "11" "Cytoplasmic 3 (462-634)" "0000373780" "00021219" "99" "1764" "0" "1764" "0" "c.1764G>A" "r.(?)" "p.(Trp588*)" "20" "" "0000373781" "00021219" "99" "1764" "0" "1764" "0" "c.1764G>A" "r.(?)" "p.(Trp588*)" "20" "" "0000373782" "00021219" "90" "1763" "3" "1763" "3" "c.1763+3A>G" "r.spl?" "p.?" "19i" "" "0000373784" "00021219" "99" "236" "1" "236" "1" "c.236+1G>C" "r.(?)" "p.(?)" "7i" "Transmembrane 3 (366-386)" "0000373785" "00021219" "99" "150" "0" "150" "0" "c.150del" "r.(?)" "p.(Asn50Lysfs*26)" "7" "Extracellular 2 (387-440)" "0000373786" "00021219" "55" "1107" "0" "1107" "0" "c.1107C>A" "r.(?)" "p.(Asn369Lys)" "15" "Extracellular 2 (387-440)" "0000373787" "00021219" "55" "1209" "0" "1209" "0" "c.1209G>C" "r.(?)" "p.(Trp403Cys)" "15" "" "0000373788" "00021219" "55" "1209" "0" "1209" "0" "c.1209G>C" "r.(?)" "p.(Trp403Cys)" "15" "Cytoplasmic 1 (1-199)" "0000373789" "00021219" "99" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Gln391*)" "15" "" "0000373790" "00021219" "99" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "11" "" "0000373791" "00021219" "99" "1566" "1" "1566" "1" "c.1566+1G>A" "r.(?)" "p.(?)" "17i" "" "0000373792" "00021219" "99" "1566" "1" "1566" "1" "c.1566+1G>A" "r.(?)" "p.(?)" "17i" "" "0000373793" "00021219" "99" "1566" "1" "1566" "1" "c.1566+1G>A" "r.(?)" "p.(?)" "17i" "" "0000373794" "00021219" "99" "1566" "1" "1566" "1" "c.1566+1G>A" "r.(?)" "p.(?)" "17i" "Extracellular 1 (221-272)" "0000373795" "00021219" "99" "1566" "1" "1566" "1" "c.1566+1G>A" "r.(?)" "p.(?)" "17i" "Extracellular 1 (221-272)" "0000373796" "00021219" "75" "800" "0" "800" "0" "c.800G>A" "r.(=)" "p.(Gly267Glu)" "13" "Extracellular 1 (221-272)" "0000373797" "00021219" "75" "800" "0" "800" "0" "c.800G>A" "r.(=)" "p.(Gly267Glu)" "13" "Transmembrane 1 (200-220)" "0000373798" "00021219" "75" "800" "0" "800" "0" "c.800G>A" "r.(=)" "p.(Gly267Glu)" "13" "Transmembrane 1 (200-220)" "0000373799" "00021219" "75" "630" "0" "632" "0" "c.630_632del" "r.(=)" "p.(Ile210del)" "11" "" "0000373800" "00021219" "75" "630" "0" "632" "0" "c.630_632del" "r.(=)" "p.(Ile210del)" "11" "" "0000373801" "00021219" "75" "237" "-6" "237" "-6" "c.237-6T>G" "r.(=)" "p.(=)" "7i" "" "0000373802" "00021219" "77" "237" "-6" "237" "-6" "c.237-6T>G" "r.(=)" "p.(=)" "7i" "" "0000373803" "00021219" "75" "237" "-6" "237" "-6" "c.237-6T>G" "r.(=)" "p.(=)" "7i" "" "0000373804" "00021219" "77" "237" "-6" "237" "-6" "c.237-6T>G" "r.(=)" "p.(=)" "7i" "" "0000373805" "00021219" "99" "453" "2" "453" "2" "c.453+2T>C" "r.(?)" "p.(?)" "9i" "" "0000373806" "00021219" "99" "453" "2" "453" "2" "c.453+2T>C" "r.(?)" "p.(?)" "9i" "" "0000373807" "00021219" "99" "-468" "0" "-468" "0" "c.-468G>A" "r.(?)" "p.(=)" "1" "" "0000373808" "00021219" "11" "-468" "0" "-468" "0" "c.-468G>A" "r.(?)" "p.(=)" "1" "" "0000373809" "00021219" "11" "-305" "-67" "-305" "-67" "c.-305-67G>A" "r.(?)" "p.(=)" "2i" "" "0000373810" "00021219" "11" "-305" "-67" "-305" "-67" "c.-305-67G>A" "r.(?)" "p.(=)" "2i" "" "0000373811" "00021219" "55" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(=)" "3" "" "0000373812" "00021219" "11" "-258" "0" "-258" "0" "c.-258A>C" "r.(?)" "p.(=)" "3" "" "0000373813" "00021219" "11" "-219" "0" "-219" "0" "c.-219A>G" "r.(?)" "p.(=)" "3" "" "0000373815" "00021219" "11" "-196" "153" "196" "154" "c.-196+153_196+154ins(314)" "r.(?)" "p.(=)" "3i" "" "0000373816" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "" "0000373817" "00021219" "11" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "6" "" "0000373818" "00021219" "11" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(?)" "15" "" "0000373819" "00021219" "11" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(?)" "15" "" "0000373820" "00021219" "11" "884" "334" "884" "334" "c.884+334T>C" "r.(?)" "p.(=)" "13i" "" "0000373821" "00021219" "11" "884" "334" "884" "334" "c.884+334T>C" "r.(?)" "p.(=)" "13i" "" "0000373822" "00021219" "11" "1566" "169" "1566" "169" "c.1566+169G>C" "r.(?)" "p.(=)" "17i" "" "0000373823" "00021219" "11" "1566" "169" "1566" "169" "c.1566+169G>C" "r.(?)" "p.(=)" "17i" "" "0000373824" "00021219" "11" "1567" "-67" "1567" "-67" "c.1567-67T>A" "r.(?)" "p.(=)" "17i" "" "0000373825" "00021219" "11" "1713" "0" "1713" "0" "c.1713C>T" "r.(?)" "p.(=)" "19" "" "0000373826" "00021219" "11" "1713" "0" "1713" "0" "c.1713C>T" "r.(?)" "p.(=)" "19" "" "0000373827" "00021219" "11" "1763" "123" "1763" "123" "c.1763+123G>A" "r.(?)" "p.(=)" "19i" "Cytoplasmic 3 (462-634)" "0000373828" "00021219" "11" "1763" "123" "1763" "123" "c.1763+123G>A" "r.(?)" "p.(=)" "19i" "" "0000373829" "00021219" "99" "1676" "0" "1676" "0" "c.1676G>A" "r.(?)" "p.(Trp559*)" "18" "" "0000373830" "00021219" "95" "536" "-1" "536" "-1" "c.536-1G>A" "r.(?)" "p.(?)" "10i" "" "0000538458" "00021219" "50" "65" "-1" "65" "-1" "c.65-1G>C" "r.spl?" "p.?" "" "" "0000538459" "00021219" "30" "193" "0" "193" "0" "c.193A>G" "r.(?)" "p.(Lys65Glu)" "" "" "0000538460" "00021219" "90" "247" "0" "247" "0" "c.247G>T" "r.(?)" "p.(Glu83Ter)" "" "" "0000538461" "00021219" "30" "247" "0" "249" "0" "c.247_249del" "r.(?)" "p.(Glu83del)" "" "" "0000538462" "00021219" "90" "863" "0" "863" "0" "c.863del" "r.(?)" "p.(Ser288ThrfsTer9)" "" "" "0000538463" "00021219" "90" "865" "0" "865" "0" "c.865T>A" "r.(?)" "p.(Phe289Ile)" "" "" "0000538464" "00021219" "90" "866" "0" "867" "0" "c.866_867insAA" "r.(?)" "p.(Phe289LeufsTer9)" "" "" "0000538466" "00021219" "90" "868" "0" "869" "0" "c.868_869insAATACGC" "r.(?)" "p.(Leu290GlnfsTer15)" "" "" "0000538470" "00021219" "50" "1860" "0" "1860" "0" "c.1860T>A" "r.(?)" "p.(Asn620Lys)" "" "" "0000538471" "00021219" "50" "1966" "0" "1966" "0" "c.1966G>A" "r.(?)" "p.(Val656Met)" "" "" "0000538472" "00021219" "50" "2144" "0" "2144" "0" "c.2144A>T" "r.(?)" "p.(Tyr715Phe)" "" "" "0000597065" "00021219" "70" "530" "0" "530" "0" "c.530T>C" "r.(?)" "p.(Ile177Thr)" "10" "domain protein affected" "0000612164" "00021219" "90" "64" "2" "64" "2" "c.64+2T>A" "r.spl?" "p.?" "" "" "0000612165" "00021219" "50" "956" "0" "956" "0" "c.956C>G" "r.(?)" "p.(Thr319Ser)" "" "" "0000652739" "00021219" "90" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "" "" "0000656380" "00021219" "50" "1762" "0" "1762" "0" "c.1762T>C" "r.(?)" "p.(Trp588Arg)" "" "" "0000678709" "00021219" "90" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Trp153Ter)" "" "" "0000678710" "00021219" "50" "1141" "0" "1141" "0" "c.1141T>A" "r.(?)" "p.(Tyr381Asn)" "" "" "0000699775" "00021219" "70" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Asp572Asn)" "" "" "0000712227" "00021219" "50" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Gly378Glu)" "" "" "0000712228" "00021219" "70" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Asp572Asn)" "" "" "0000712264" "00021219" "50" "1512" "0" "1512" "0" "c.1512dup" "r.(?)" "p.(Val505CysfsTer27)" "" "" "0000712265" "00021219" "70" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Asp572Asn)" "" "" "0000712282" "00021219" "50" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Ala295Val)" "" "" "0000712299" "00021219" "50" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Gly378Glu)" "" "" "0000712538" "00021219" "50" "1250" "0" "1250" "0" "c.1250G>A" "r.(?)" "p.(Gly417Glu)" "" "" "0000712545" "00021219" "50" "1250" "0" "1250" "0" "c.1250G>A" "r.(?)" "p.(Gly417Glu)" "" "" "0000722562" "00021219" "50" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Gly301Asp)" "" "" "0000722563" "00021219" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389*)" "" "" "0000729805" "00021219" "90" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Asp)" "" "" "0000729806" "00021219" "90" "1247" "0" "1247" "0" "c.1247T>G" "r.(?)" "p.(Leu416Arg)" "" "" "0000729810" "00021219" "90" "1312" "0" "1312" "0" "c.1312G>A" "r.(?)" "p.(Ala438Thr)" "" "" "0000760702" "00021219" "90" "2002" "0" "2002" "0" "c.2002A>G" "r.(?)" "p.(Ser668Gly)" "" "" "0000784121" "00021219" "50" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "" "" "0000785804" "00021219" "50" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445Cys)" "" "" "0000804190" "00021219" "90" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Trp441*)" "" "" "0000804191" "00021219" "30" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(Gly542=)" "" "" "0000811201" "00021219" "11" "-258" "0" "-258" "0" "c.-258A>C" "r.(=)" "p.(=)" "1" "" "0000811202" "00021219" "99" "627" "0" "627" "0" "c.627C>T" "r.(=)" "p.(=)" "11" "" "0000813023" "00021219" "70" "1939" "0" "1939" "0" "c.1939T>C" "r.(?)" "p.(Ser647Pro)" "" "" "0000841406" "00021219" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512*)" "" "" "0000841407" "00021219" "70" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Tyr323Cys)" "" "" "0000841408" "00021219" "70" "1763" "3" "1763" "3" "c.1763+3A>G" "r.spl?" "p.?" "" "" "0000841409" "00021219" "90" "1714" "0" "1714" "0" "c.1714G>A" "r.(?)" "p.(Asp572Asn)" "" "" "0000861735" "00021219" "30" "1705" "0" "1705" "0" "c.1705A>G" "r.(?)" "p.(Thr569Ala)" "" "" "0000869793" "00021219" "90" "968" "0" "968" "0" "c.968A>G" "r.(?)" "P.(Tyr323Cys)" "" "" "0000869794" "00021219" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512*)" "" "" "0000869795" "00021219" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512*)" "" "" "0000869796" "00021219" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512*)" "" "" "0000869797" "00021219" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512*)" "" "" "0000869798" "00021219" "90" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512*)" "" "" "0000869799" "00021219" "90" "1763" "3" "1763" "3" "c.1763+3A>G" "r.spl?" "p.?" "" "" "0000874146" "00021219" "50" "1210" "0" "1210" "0" "c.1210T>A" "r.(?)" "p.(Trp404Arg)" "" "" "0000874147" "00021219" "50" "1210" "0" "1210" "0" "c.1210T>A" "r.(?)" "p.(Trp404Arg)" "" "" "0000909827" "00021219" "90" "1622" "0" "1622" "0" "c.1622T>A" "r.(?)" "p.(Ile541Asn)" "" "" "0000943904" "00021219" "90" "150" "0" "150" "0" "c.150del" "r.(?)" "p.(Asn50Lysfs*26)" "" "" "0000943918" "00021219" "90" "1224" "2" "1224" "2" "c.1224+2T>C" "r.spl" "p.?" "" "" "0000944228" "00021219" "90" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34Ter)" "" "" "0000944229" "00021219" "90" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34Ter)" "" "" "0000944230" "00021219" "90" "596" "0" "596" "0" "c.596A>T" "r.(?)" "p.(Asn199Ile)" "" "" "0000944231" "00021219" "90" "945" "0" "945" "0" "c.945G>A" "r.(?)" "p.(Trp315Ter)" "" "" "0000944232" "00021219" "90" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Met)" "" "" "0000944233" "00021219" "90" "1143" "0" "1143" "0" "c.1143C>G" "r.(?)" "p.(Tyr381Ter)" "" "" "0000944234" "00021219" "90" "1209" "0" "1209" "0" "c.1209G>A" "r.(?)" "p.(Trp403Ter)" "" "" "0000944235" "00021219" "90" "1224" "2" "1224" "2" "c.1224+2T>C" "r.spl" "p.?" "" "" "0000944236" "00021219" "70" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Cys420Tyr)" "" "" "0000944237" "00021219" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445Cys)" "" "" "0000944238" "00021219" "90" "1363" "0" "1363" "0" "c.1363T>C" "r.(?)" "p.(Tyr455His)" "" "" "0000944239" "00021219" "90" "1543" "0" "1543" "0" "c.1543T>C" "r.(?)" "p.(Cys515Arg)" "" "" "0000944240" "00021219" "70" "1728" "0" "1728" "0" "c.1728C>G" "r.(?)" "p.(Asn576Lys)" "" "" "0000944241" "00021219" "90" "1753" "0" "1754" "0" "c.1753_1754insA" "r.(?)" "p.(Gly585GlufsTer39)" "" "" "0000944242" "00021219" "90" "2035" "0" "2035" "0" "c.2035G>A" "r.(?)" "p.(Glu679Lys)" "" "" "0000944243" "00021219" "90" "2035" "0" "2035" "0" "c.2035G>A" "r.(?)" "p.(Glu679Lys)" "" "" "0000944295" "00021219" "90" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Arg604Ter)" "" "" "0000944296" "00021219" "90" "1788" "0" "1788" "0" "c.1788C>A" "r.(?)" "p.(Ser596Arg)" "" "" "0000944301" "00021219" "50" "1705" "0" "1705" "0" "c.1705A>G" "r.(?)" "p.(Thr569Ala)" "" "" "0000944351" "00021219" "70" "980" "0" "980" "0" "c.980A>T" "r.(?)" "p.(Asn327Ile)" "" "" "0000944497" "00021219" "90" "596" "0" "596" "0" "c.596A>T" "r.(?)" "p.(Asn199Ile)" "" "" "0000944498" "00021219" "90" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Arg389Gln)" "" "" "0000944499" "00021219" "90" "1404" "1" "1404" "1" "c.1404+1G>T" "r.(?)" "p.?" "" "" "0000944500" "00021219" "90" "1788" "0" "1788" "0" "c.1788C>A" "r.(?)" "p.(Ser596Arg)" "" "" "0000960214" "00021219" "70" "545" "0" "545" "0" "c.545G>T" "r.(?)" "p.(Gly182Val)" "" "" "0000960215" "00021219" "90" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34Ter)" "" "" "0000960216" "00021219" "50" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Val676Asp)" "" "" "0000960323" "00021219" "70" "1752" "0" "1752" "0" "c.1752A>C" "r.?" "p.(Gln584His)" "" "" "0000978764" "00021219" "50" "1113" "0" "1113" "0" "c.1113C>T" "r.(?)" "p.(=)" "" "" "0000978765" "00021219" "50" "1705" "0" "1705" "0" "c.1705A>G" "r.(?)" "p.(Thr569Ala)" "" "" "0000997954" "00021219" "70" "863" "0" "863" "0" "c.863del" "r.(?)" "p.(Ser288ThrfsTer9)" "" "" "0000997955" "00021219" "70" "865" "0" "865" "0" "c.865T>A" "r.(?)" "p.(Phe289Ile)" "" "" "0000997956" "00021219" "70" "866" "0" "867" "0" "c.866_867insAA" "r.(?)" "p.(Phe289LeufsTer9)" "" "" "0001037579" "00021219" "50" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(=)" "" "" "0001037580" "00021219" "90" "1763" "3" "1763" "3" "c.1763+3A>G" "r.spl?" "p.?" "" "" "0001037581" "00021219" "50" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Val616Ile)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 390 "{{screeningid}}" "{{variantid}}" "0000059011" "0000089808" "0000059012" "0000089809" "0000059013" "0000089810" "0000059013" "0000089811" "0000059171" "0000096178" "0000059171" "0000096179" "0000059182" "0000090009" "0000059183" "0000090010" "0000059185" "0000090013" "0000059185" "0000090014" "0000060228" "0000091217" "0000060228" "0000091218" "0000060229" "0000091219" "0000060237" "0000091233" "0000060237" "0000091234" "0000060238" "0000091235" "0000060238" "0000091236" "0000060284" "0000091304" "0000060285" "0000091305" "0000080101" "0000128976" "0000080101" "0000128977" "0000167788" "0000373519" "0000167788" "0000373524" "0000167789" "0000373520" "0000167789" "0000373525" "0000167790" "0000373521" "0000167790" "0000373526" "0000167791" "0000373522" "0000167791" "0000373527" "0000167792" "0000373523" "0000167792" "0000373528" "0000167793" "0000373530" "0000167793" "0000373534" "0000167794" "0000373531" "0000167794" "0000373535" "0000167795" "0000373532" "0000167795" "0000373536" "0000167796" "0000373533" "0000167796" "0000373537" "0000167797" "0000373540" "0000167797" "0000373545" "0000167798" "0000373541" "0000167798" "0000373546" "0000167799" "0000373542" "0000167799" "0000373547" "0000167800" "0000373543" "0000167800" "0000373548" "0000167801" "0000373544" "0000167801" "0000373549" "0000167802" "0000373584" "0000167802" "0000373595" "0000167803" "0000373585" "0000167803" "0000373596" "0000167804" "0000373586" "0000167804" "0000373597" "0000167805" "0000373587" "0000167805" "0000373598" "0000167806" "0000373588" "0000167806" "0000373599" "0000167807" "0000373589" "0000167807" "0000373600" "0000167808" "0000373590" "0000167808" "0000373601" "0000167809" "0000373591" "0000167809" "0000373602" "0000167810" "0000373592" "0000167810" "0000373603" "0000167811" "0000373593" "0000167811" "0000373604" "0000167812" "0000373594" "0000167812" "0000373605" "0000167813" 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