### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TECTA) # 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}}" "TECTA" "tectorin alpha" "11" "q22-q24" "unknown" "NG_011633.1" "UD_132118317330" "{PMID:Roux 2011:21436283}" "https://www.LOVD.nl/TECTA" "Deafness Gene Mutation Database \r\nDeafness Variation Database \r\nMoBiDiC " "1" "11720" "7007" "602574" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the TECTA database using: www.LOVD.nl/TECTA
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/TECTA_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 20:34:49" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020958" "TECTA" "tectorin alpha" "001" "NM_005422.2" "" "NP_005413.2" "" "" "" "1" "6468" "6468" "120973375" "121061515" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "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" "02370" "DFNA12" "deafness, autosomal dominant, type 12 (DFNA-12)" "AD" "601543" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02462" "DFNB21" "deafness, autosomal recessive, type 21 (DFNB-21)" "AR" "603629" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "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 = 4 "{{geneid}}" "{{diseaseid}}" "TECTA" "02370" "TECTA" "02462" "TECTA" "05458" "TECTA" "06877" ## Individuals ## Do not remove or alter this header ## ## Count = 130 "{{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}}" "00050573" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00059027" "" "" "" "3" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00059183" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059185" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059186" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059187" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059188" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00060256" "" "" "" "5" "" "01542" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "3-generation family, 5 affecteds (2F, 3M)" "F;M" "no" "Israel" "" "0" "" "" "Turkey;Jewish" "" "00060257" "" "" "" "2" "" "01542" "Karen Avraham Laboratory" "" "" "no" "Israel" "" "0" "" "" "Turkey;Jewish" "" "00080001" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080012" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080016" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080140" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080143" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080843" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00163189" "" "" "" "1" "" "02416" "{PMID:Platinga et al., 2006:16718611}" "proband" "M" "" "Netherlands" "" "0" "" "" "" "" "00163190" "" "" "" "1" "" "02416" "{PMID:Meyer et al., 2007:17431902}" "proband" "F" "" "Iran" "" "0" "" "" "" "" "00163191" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "F" "" "France" "" "0" "" "" "" "S1539" "00163192" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "F" "" "United States" "" "0" "" "" "" "" "00163193" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "F" "" "Spain" "" "0" "" "" "" "" "00163194" "" "" "" "1" "" "02416" "{PMID:Naz et al., 2003:12746400}" "proband" "F" "" "Iran" "" "0" "" "" "" "" "00163195" "" "" "" "1" "" "02416" "{PMID:Hutchin et al., 2005:16283880}" "proband" "" "" "" "" "0" "" "" "" "" "00163196" "" "" "" "1" "" "00741" "" "" "" "" "Korea" "" "0" "" "" "Mongolian" "" "00163197" "" "" "" "1" "" "02416" "{PMID:Sagong et al., 2010:20947814}" "proband" "" "" "Korea" "" "0" "" "" "" "" "00163198" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "proband" "" "" "China" "" "0" "" "" "" "" "00163199" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "" "" "United States" "" "0" "" "" "" "" "00163200" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband - U-shaped deafness associated to an AD family pattern - No other mutation identified - An affected relative does not carry the mutation" "M" "" "Spain" "" "0" "" "" "" "" "00163201" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "M" "" "Belgium" "" "0" "" "" "" "" "00163202" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "" "" "United States" "" "0" "" "" "" "" "00163203" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "" "" "United States" "" "0" "" "" "" "" "00163204" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00163205" "" "" "" "1" "" "02416" "{PMID:Mustapha et al., 1999:9949200}" "proband" "F" "" "Lebanon" "" "0" "" "" "" "" "00163206" "" "" "" "1" "" "02416" "{PMID:Meyer et al., 2007:17431902}" "proband" "M" "" "Iran" "" "0" "" "" "" "" "00163207" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "F" "" "Spain" "" "0" "" "" "" "" "00163208" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "F" "" "Spain" "" "0" "" "" "" "" "00163209" "" "" "" "1" "" "02416" "{PMID:Balciuniene et al., 1999:10987647}" "proband" "F" "" "Sweden" "" "0" "" "" "" "" "00163210" "" "" "" "1" "" "02416" "{PMID:Balciuniene et al., 1999:10987647}" "relative" "F" "" "Sweden" "" "0" "" "" "" "" "00163211" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "proband" "M" "" "France" "" "0" "" "" "" "" "00163212" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "F" "" "Spain" "" "0" "" "" "" "" "00163213" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "F" "" "Spain" "" "0" "" "" "" "" "00163214" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "M" "" "Spain" "" "0" "" "" "" "" "00163215" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "M" "" "France" "" "0" "" "" "" "S1734" "00163216" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "M" "" "France" "" "0" "" "" "" "S1680" "00163217" "" "" "" "1" "" "02416" "{PMID:Alloisio et al., 1999:10196713}" "proband" "F" "" "France" "" "0" "" "" "" "" "00163218" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "proband- mild to moderate symmetric sensorineural hearing loss - II generation" "M" "" "Japan" "" "0" "" "" "" "" "00163219" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative" "M" "" "Japan" "" "0" "" "" "" "" "00163220" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative" "M" "" "Japan" "" "0" "" "" "" "" "00163221" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative" "F" "" "Japan" "" "0" "" "" "" "" "00163222" "" "" "" "1" "" "02416" "{PMID:Pfister et al., 2004:15319541}" "proband" "M" "" "Turkey" "" "0" "" "" "" "" "00163223" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "F" "" "Spain" "" "0" "" "" "" "" "00163224" "" "" "" "1" "" "02416" "{PMID:Sagong et al., 2011:22037481}" "proband" "F" "" "Korea" "" "0" "" "" "" "" "00163225" "" "" "" "1" "" "02416" "{PMID:Diaz-Horta et al,.2012:23226338}" "" "" "" "Iran" "" "0" "" "" "" "" "00163226" "" "" "" "1" "" "02416" "{PMID:Meyer et al., 2007:17431902}" "proband" "M" "" "Iran" "" "0" "" "" "" "" "00163227" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "proband - slowly progressive high frequency hearing loss II generation" "F" "" "Japan" "" "0" "" "" "" "" "00163228" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative" "F" "" "Japan" "" "0" "" "" "" "" "00163229" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative" "M" "" "Japan" "" "0" "" "" "" "" "00163230" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative" "M" "" "France" "" "0" "" "" "" "" "00163231" "" "" "" "1" "" "02416" "{PMID:Collin et al., 2008:18575463}" "proband" "F" "" "Netherlands" "" "0" "" "" "" "" "00163232" "" "" "" "1" "" "02416" "{PMID:Collin et al., 2008:18575463}" "proband" "" "" "" "" "0" "" "" "" "" "00163233" "" "" "" "1" "" "02416" "{PMID:Collin et al., 2008:18575463}" "" "" "" "" "" "0" "" "" "" "" "00163234" "" "" "" "1" "" "02416" "{PMID:De Heer et al., 2009:19005249}" "proband" "F" "" "Netherlands" "" "0" "" "" "" "" "00163235" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "" "" "United States" "" "0" "" "" "" "" "00163236" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "M" "" "Spain" "" "0" "" "" "" "" "00163237" "" "" "" "1" "" "02416" "{PMID:Lezirovitz et al.,2012:22995349}" "" "F" "" "Brazil" "" "0" "" "" "" "" "00163238" "" "" "" "1" "" "02416" "{PMID:Verhoeven et al., 1998:9590290}" "proband" "" "" "Belgium" "" "0" "" "" "" "" "00163239" "" "" "" "1" "" "02416" "{PMID:Meyer et al., 2007:17661817}" "proband" "F" "" "United States" "" "0" "" "" "" "" "00163240" "" "" "" "1" "" "02416" "{PMID:Moreno-Pelayo et al., 2001:11333869}" "proband" "M" "" "Spain" "" "0" "" "" "" "" "00163241" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "F" "" "Spain" "" "0" "" "" "" "" "00163242" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband - The mutation is also carried by a 3 years old asymptomatic relative" "F" "" "Spain" "" "0" "" "" "" "" "00163243" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2011:21917145}" "proband" "F" "" "Turkey" "" "0" "" "" "" "" "00163244" "" "" "" "1" "" "02416" "{PMID:Sagong et al., 2010:20947814}" "proband" "F" "" "Korea" "" "0" "" "" "" "" "00163245" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "F" "" "Spain" "" "0" "" "" "" "" "00163246" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "" "" "United States" "" "0" "" "" "" "" "00163247" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "relative - homozygous for an AD mutation - phenotype more severe than III.1" "F" "" "Spain" "" "0" "" "" "" "" "00163248" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "M" "" "Spain" "" "0" "" "" "" "" "00163249" "" "" "" "1" "" "02416" "{PMID:Verhoeven et al., 1998:9590290}" "proband" "" "" "Australia" "" "0" "" "" "" "" "00163250" "" "" "" "1" "" "02416" "{PMID:Fujikawa et al., 2010:19877185}" "proband" "F" "" "Japan" "" "0" "" "" "" "" "00163251" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "F" "" "Spain" "" "0" "" "" "" "" "00163252" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "M" "" "Spain" "" "0" "" "" "" "" "00163253" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "F" "" "United States" "" "0" "" "" "" "" "00163254" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "" "" "United States" "" "0" "" "" "" "" "00163255" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "Prband" "" "" "United States" "" "0" "" "" "" "" "00163256" "" "" "" "1" "" "02416" "{PMID:Li et al,.2012:23936151}" "" "" "" "China" "" "0" "" "" "" "" "00163257" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "proband - I generarion" "M" "" "Japan" "" "0" "" "" "" "" "00163258" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative - I generation" "M" "" "Japan" "" "0" "" "" "" "" "00163259" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative - I generation" "M" "" "Japan" "" "0" "" "" "" "" "00163260" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative - I generation" "M" "" "Japan" "" "0" "" "" "" "" "00163261" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative - II generation" "M" "" "Japan" "" "0" "" "" "" "" "00163262" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative - II generation" "M" "" "Japan" "" "0" "" "" "" "" "00163263" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative - II generation" "M" "" "Japan" "" "0" "" "" "" "" "00163264" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative - II generation" "M" "" "Japan" "" "0" "" "" "" "" "00163265" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative - II generation" "M" "" "Japan" "" "0" "" "" "" "" "00163266" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative - III generation" "M" "" "Japan" "" "0" "" "" "" "" "00163267" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative - III generation" "M" "" "Japan" "" "0" "" "" "" "" "00163268" "" "" "" "1" "" "02416" "{PMID:Moteki et al,.2012:22718023}" "relative - III generation" "M" "" "Japan" "" "0" "" "" "" "" "00163269" "" "" "" "1" "" "02416" "{PMID:Hildebrand et al., 2011:21520338}" "proband" "M" "" "Spain" "" "0" "" "" "" "" "00163270" "" "" "" "1" "" "02416" "{PMID:Naz et al., 2003:12746400}" "proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00163271" "" "" "" "1" "" "02416" "{PMID:Iwasaki et al., 2002:12162770}" "proband" "F" "" "Japan" "" "0" "" "" "" "" "00163272" "" "" "" "1" "" "02416" "{PMID:Alasti et al., 2008:18022253}" "proband" "F" "" "Iran" "" "0" "" "" "" "" "00163273" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "M" "" "France" "" "0" "" "" "" "S1759" "00275937" "" "" "" "1" "" "03557" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Korea" "" "0" "" "" "" "SB106-198" "00275939" "" "" "" "1" "" "03557" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Korea" "" "0" "" "" "" "SB126-218" "00290268" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290269" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290270" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290271" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290272" "" "" "" "29" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290273" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307310" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00309868" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "HL017" "00327031" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB280-552" "00327464" "" "" "" "1" "" "03980" "Doucette 2021, submitted" "" "M" "" "Canada" "" "" "" "" "" "M71 II-1" "00361812" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "" "Iran" "" "0" "" "" "" "Pat43" "00393989" "" "" "" "1" "" "00000" "{PMID:Fuster-Garcia-2019:31725169}" "" "" "" "" "" "0" "" "" "Spanish" "" "00401633" "" "" "" "8" "" "00000" "{PMID:Mei 2021:33976695}" "4-generation family, 8 affected (8F, 8M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Muzafargarh" "PK DD-KA-01PatIV4" "00419571" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9085" "00441411" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1283" "00441412" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "HL04" "00441413" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4242A" "00441414" "" "" "" "7" "" "00006" "{PMID:Richard 2019: 30303587}" "4-generation family, 7 affected (F, 6M)" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1452" "00441502" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "33002" "00441503" "" "" "" "2" "" "00006" "{PMID:Boucher 2020:33229591}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "PAR070" "00441504" "" "" "" "2" "" "00006" "{PMID:Boucher 2020:33229591}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "PAR054" "00441533" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "B00APFP" "00441646" "" "" "" "3" "" "00006" "{PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLGM19" "00448408" "" "" "" "2" "" "00006" "{PMID:Yazdani 2020:32280589}" "2-generation family, 2 affected brothers, unaffected heterozygous parents (1st cousin)" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPat1" "00448409" "" "" "00448408" "1" "" "00006" "{PMID:Yazdani 2020:32280589}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamPat2" "00465458" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465459" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465460" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 130 "{{individualid}}" "{{diseaseid}}" "00050573" "00198" "00059027" "02370" "00059183" "00531" "00059185" "00531" "00059186" "00531" "00059187" "00531" "00059188" "00531" "00060256" "02370" "00060257" "02370" "00080001" "05103" "00080012" "05103" "00080016" "05103" "00080140" "05103" "00080143" "05103" "00080843" "02462" "00163189" "00350" "00163190" "05400" "00163191" "05400" "00163192" "00350" "00163193" "00350" "00163194" "05400" "00163195" "05400" "00163196" "00350" "00163197" "00350" "00163198" "05400" "00163199" "00350" "00163200" "00350" "00163201" "00350" "00163202" "00350" "00163203" "00350" "00163204" "00350" "00163205" "05400" "00163206" "05400" "00163207" "00350" "00163208" "00350" "00163209" "00350" "00163210" "00350" "00163211" "05103" "00163212" "00350" "00163213" "00350" "00163214" "00350" "00163215" "00350" "00163216" "00350" "00163217" "00350" "00163218" "00350" "00163219" "00350" "00163220" "00350" "00163221" "00350" "00163222" "00350" "00163223" "00350" "00163224" "05400" "00163225" "05400" "00163226" "05400" "00163227" "00350" "00163228" "00350" "00163229" "00350" "00163230" "00350" "00163231" "00350" "00163232" "00350" "00163233" "00350" "00163234" "00350" "00163235" "00350" "00163236" "00350" "00163237" "00350" "00163238" "00350" "00163239" "00350" "00163240" "00350" "00163241" "00350" "00163242" "00350" "00163243" "00350" "00163244" "00350" "00163245" "00350" "00163246" "00350" "00163247" "00350" "00163248" "00350" "00163249" "00350" "00163250" "00198" "00163251" "00350" "00163252" "00350" "00163253" "00350" "00163254" "00350" "00163255" "00350" "00163256" "00350" "00163257" "00350" "00163258" "00350" "00163259" "00350" "00163260" "00350" "00163261" "00350" "00163262" "00350" "00163263" "00350" "00163264" "00350" "00163265" "00350" "00163266" "00350" "00163267" "00350" "00163268" "00350" "00163269" "00350" "00163270" "05400" "00163271" "00350" "00163272" "05400" "00163273" "00350" "00275937" "05103" "00275939" "05103" "00290268" "00198" "00290269" "00198" "00290270" "00198" "00290271" "00198" "00290272" "00198" "00290273" "00198" "00307310" "00198" "00309868" "05086" "00327031" "05086" "00327464" "04214" "00361812" "05415" "00393989" "04214" "00401633" "05103" "00419571" "00198" "00441411" "05086" "00441412" "05086" "00441413" "05086" "00441414" "05086" "00441502" "05086" "00441503" "05086" "00441504" "05086" "00441533" "05086" "00441646" "05086" "00448408" "00198" "00448409" "00198" "00465458" "05086" "00465459" "05086" "00465460" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00350, 00531, 02370, 02462, 04214, 05086, 05103, 05400, 05415, 05458, 06877 ## Count = 113 "{{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}}" "0000037185" "00198" "00050573" "00006" "Isolated (sporadic)" "" "abnormality of macular pigmentation, truncal obesity, intellectual disability mild, sensorineural hearing impairment, moderately short stature, diabetes mellitus, abnormality of the toenails" "" "" "" "" "" "" "" "" "" "" "" "0000045616" "02370" "00059027" "01542" "Familial, autosomal dominant" "" "Childhood onset, 2-4y, moderate-severe hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000046745" "02370" "00060256" "01542" "Familial, autosomal dominant" "" "Congenital, progressive, moderate-profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046746" "02370" "00060257" "01542" "Familial, autosomal dominant" "" "Congenital, progressive, severe-profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000060412" "02462" "00080843" "01758" "Familial, autosomal recessive" "" "Deafness, autosomal recessive 21 (OMIM:603629)" "" "" "" "" "" "" "" "" "" "" "" "0000128326" "00350" "00163189" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128327" "05400" "00163190" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128328" "05400" "00163191" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128329" "00350" "00163192" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128330" "00350" "00163193" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128331" "05400" "00163194" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128332" "05400" "00163195" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128333" "00350" "00163196" "00741" "Familial, autosomal dominant" "" "high frequency hearing loss" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128334" "00350" "00163197" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128335" "05400" "00163198" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128336" "00350" "00163199" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128337" "00350" "00163200" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128338" "00350" "00163201" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128339" "00350" "00163202" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128340" "00350" "00163203" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128341" "00350" "00163204" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128342" "05400" "00163205" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128343" "05400" "00163206" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128344" "00350" "00163207" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128345" "00350" "00163208" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128346" "00350" "00163209" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128347" "00350" "00163210" "02416" "Familial, autosomal dominant" "" "14y-no deafness" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128348" "05103" "00163211" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic (DFN)" "" "0000128349" "00350" "00163212" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128350" "00350" "00163213" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128351" "00350" "00163214" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128352" "00350" "00163215" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128353" "00350" "00163216" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128354" "00350" "00163217" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128355" "00350" "00163218" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128356" "00350" "00163219" "02416" "Familial, autosomal dominant" "" "mild to moderate symmetric sensorineural hearing loss - III generation" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128357" "00350" "00163220" "02416" "Familial, autosomal dominant" "" "mild to moderate symmetric sensorineural hearing loss - III generation" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128358" "00350" "00163221" "02416" "Familial, autosomal dominant" "" "mild to moderate symmetric sensorineural hearing loss - III generation" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128359" "00350" "00163222" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128360" "00350" "00163223" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128361" "05400" "00163224" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128362" "05400" "00163225" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128363" "05400" "00163226" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128364" "00350" "00163227" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128365" "00350" "00163228" "02416" "Familial, autosomal dominant" "" "slowly progressive high frequency hearing loss - III generation" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128366" "00350" "00163229" "02416" "Familial, autosomal dominant" "" "slowly progressive high frequency hearing loss - III generation" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128367" "00350" "00163230" "02416" "Familial, autosomal dominant" "" "slowly progressive high frequency hearing loss - III generation" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128368" "00350" "00163231" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128369" "00350" "00163232" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128370" "00350" "00163233" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128371" "00350" "00163234" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128372" "00350" "00163235" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128373" "00350" "00163236" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128374" "00350" "00163237" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128375" "00350" "00163238" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128376" "00350" "00163239" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128377" "00350" "00163240" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128378" "00350" "00163241" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128379" "00350" "00163242" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128380" "00350" "00163243" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128381" "00350" "00163244" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128382" "00350" "00163245" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128383" "00350" "00163246" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128384" "00350" "00163247" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128385" "00350" "00163248" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128386" "00350" "00163249" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128387" "00198" "00163250" "02416" "Unknown" "" "normal hearing, phenotype DFNA6/14/38" "" "" "" "" "" "" "" "" "" "" "" "0000128388" "00350" "00163251" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128389" "00350" "00163252" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128390" "00350" "00163253" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128391" "00350" "00163254" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128392" "00350" "00163255" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128393" "00350" "00163256" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128394" "00350" "00163257" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128395" "00350" "00163258" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128396" "00350" "00163259" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128397" "00350" "00163260" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128398" "00350" "00163261" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128399" "00350" "00163262" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128400" "00350" "00163263" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128401" "00350" "00163264" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128402" "00350" "00163265" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128403" "00350" "00163266" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128404" "00350" "00163267" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128405" "00350" "00163268" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128406" "00350" "00163269" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128407" "05400" "00163270" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128408" "00350" "00163271" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128409" "05400" "00163272" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-21" "deafness, autosomal recessive (DFNB)" "" "0000128410" "00350" "00163273" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000210537" "05103" "00275937" "03557" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210539" "05103" "00275939" "03557" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233110" "00198" "00307310" "01164" "Unknown" "" "Hearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "0000235183" "05086" "00309868" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNA12" "hearing loss" "" "0000245753" "04214" "00327464" "03980" "Familial, autosomal dominant" "24y" "Fundus: \r\nRetinal detachment @ age 10 HP:0000541\r\nAbnormal anterior chamber morphology HP:0000593. Right eye enucleated\r\n\r\nOCT: \r\nExtensive atrophy of outer retina (HP:0001105) and decreased in central retinal thickness in the left eye." "" "" "" "" "" "" "" "" "" "Retinal detachment, retinal dystrophy" "" "0000257207" "05415" "00361812" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000287195" "04214" "00393989" "00000" "Familial, autosomal recessive" "44y" "" "12y" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000310852" "00198" "00419571" "02300" "Isolated (sporadic)" "5y" "deafness, cardiomyopathy, speech delay" "" "" "" "" "" "" "" "" "" "ocular/auditory abnormality" "" "0000319228" "05103" "00401633" "00006" "Familial, autosomal recessive" "" "bilateral profound hearing loss" "" "" "" "" "" "" "" "" "DFNB21" "hearing loss" "" "0000330851" "05086" "00441411" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330852" "05086" "00441412" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330853" "05086" "00441413" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330854" "05086" "00441414" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330940" "05086" "00441502" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000330941" "05086" "00441503" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000330942" "05086" "00441504" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000330971" "05086" "00441533" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000331055" "05086" "00441646" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000337596" "00198" "00448408" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., severely affected, intellectual developmental disorder, cardiac arrhythmia syndrome" "" "" "" "" "" "" "" "" "LDMLS1" "neurodevelopmental disorder" "" "0000337597" "00198" "00448409" "00006" "Familial, autosomal recessive" "21y" "see paper; ..., severely affected, intellectual developmental disorder, cardiac arrhythmia syndrome" "" "" "" "" "" "" "" "" "LDMLS1" "neurodevelopmental disorder" "" "0000351006" "05086" "00465458" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351007" "05086" "00465459" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351008" "05086" "00465460" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 130 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050518" "00050573" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000058992" "00059027" "1" "01542" "01542" "2016-02-15 23:45:58" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059166" "00059183" "1" "01551" "01551" "2016-02-29 16:44:58" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059168" "00059185" "1" "01551" "01551" "2016-02-29 16:52:26" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059169" "00059186" "1" "01551" "01551" "2016-02-29 16:55:12" "00006" "2016-05-02 22:42:58" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059170" "00059187" "1" "01551" "01551" "2016-02-29 16:58:19" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059171" "00059188" "1" "01551" "01551" "2016-02-29 16:59:33" "00006" "2016-04-30 15:39:04" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060240" "00060256" "1" "01542" "01542" "2016-03-22 11:37:56" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060242" "00060257" "1" "01542" "01542" "2016-03-22 11:59:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000080079" "00080001" "1" "01740" "01740" "2016-09-01 11:33:34" "" "" "SEQ-NG" "DNA" "" "" "0000080090" "00080012" "1" "01740" "01740" "2016-09-01 11:54:29" "" "" "SEQ-NG" "DNA" "" "" "0000080094" "00080016" "1" "01740" "01740" "2016-09-01 12:02:56" "" "" "SEQ-NG" "DNA" "" "" "0000080234" "00080140" "1" "01740" "01740" "2016-09-02 08:53:48" "" "" "SEQ-NG" "DNA" "" "" "0000080237" "00080143" "1" "01740" "01740" "2016-09-02 09:28:56" "" "" "SEQ-NG" "DNA" "" "" "0000080955" "00080843" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000164054" "00163189" "1" "02416" "00110" "2012-04-24 14:14:20" "" "" "SEQ" "DNA" "" "" "0000164055" "00163190" "1" "02416" "00110" "2012-04-27 16:05:26" "" "" "SEQ" "DNA" "" "" "0000164056" "00163191" "1" "02416" "00110" "2017-08-14 17:21:26" "00110" "2017-12-06 10:04:41" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164057" "00163192" "1" "02416" "00110" "2012-04-25 17:07:38" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164058" "00163193" "1" "02416" "00110" "2012-04-25 17:12:37" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164059" "00163194" "1" "02416" "00110" "2012-04-24 12:11:47" "" "" "SEQ" "DNA" "" "" "0000164060" "00163195" "1" "02416" "00110" "2012-04-24 15:50:01" "00110" "2012-04-25 09:54:59" "DHPLC;SEQ;SSCA" "DNA" "" "" "0000164061" "00163196" "1" "00741" "00741" "2013-02-24 04:31:50" "" "" "SEQ-NG-S" "DNA" "" "" "0000164062" "00163197" "1" "02416" "00110" "2012-04-24 17:27:11" "" "" "SEQ" "DNA" "" "" "0000164063" "00163198" "1" "02416" "00110" "2013-06-26 18:00:56" "00110" "2014-11-27 09:00:20" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164064" "00163199" "1" "02416" "00110" "2012-04-25 19:16:03" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164065" "00163200" "1" "02416" "00110" "2012-04-25 18:11:50" "00110" "2012-04-25 18:23:57" "DHPLC;SEQ" "DNA" "" "" "0000164066" "00163201" "1" "02416" "00110" "2012-04-25 19:22:20" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164067" "00163202" "1" "02416" "00110" "2012-04-25 19:27:57" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164068" "00163203" "1" "02416" "00110" "2012-04-25 19:31:56" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164069" "00163204" "1" "02416" "00110" "2012-04-26 09:45:32" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164070" "00163205" "1" "02416" "00110" "2012-04-23 12:49:11" "00110" "2012-04-23 12:49:38" "SEQ" "DNA" "" "" "0000164071" "00163206" "1" "02416" "00110" "2012-04-27 14:34:00" "" "" "SEQ" "DNA" "" "" "0000164072" "00163207" "1" "02416" "00110" "2012-04-25 19:38:09" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164073" "00163208" "1" "02416" "00110" "2012-04-25 19:39:49" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164074" "00163209" "1" "02416" "00110" "2012-04-23 12:37:19" "00110" "2012-04-24 09:14:02" "SEQ" "DNA" "" "" "0000164075" "00163210" "1" "02416" "00110" "2012-04-24 09:18:06" "" "" "SEQ" "DNA" "" "" "0000164076" "00163211" "1" "02416" "00110" "2013-02-11 12:51:01" "00110" "2014-02-06 10:22:53" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164077" "00163212" "1" "02416" "00110" "2012-04-25 19:53:23" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164078" "00163213" "1" "02416" "00110" "2012-04-25 19:58:49" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164079" "00163214" "1" "02416" "00110" "2012-04-25 20:03:35" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164080" "00163215" "1" "02416" "00110" "2017-08-14 17:40:41" "00110" "2017-12-06 10:04:41" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164081" "00163216" "1" "02416" "00110" "2017-08-14 17:28:19" "00110" "2017-12-06 10:04:41" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164082" "00163217" "1" "02416" "00110" "2012-04-23 14:14:48" "" "" "PCRdig;SEQ;SSCA" "DNA" "" "" "0000164083" "00163218" "1" "02416" "00110" "2013-12-31 15:43:52" "00110" "2014-01-06 10:25:21" "SEQ" "DNA" "" "" "0000164084" "00163219" "1" "02416" "00110" "2013-12-31 15:59:54" "00110" "2014-01-06 10:29:06" "SEQ" "DNA" "" "" "0000164085" "00163220" "1" "02416" "00110" "2013-12-31 16:03:22" "00110" "2014-01-06 10:30:24" "SEQ" "DNA" "" "" "0000164086" "00163221" "1" "02416" "00110" "2013-12-31 16:05:22" "00110" "2014-01-06 10:33:07" "SEQ" "DNA" "" "" "0000164087" "00163222" "1" "02416" "00110" "2012-04-25 09:29:50" "" "" "PCRdig;SEQ" "DNA" "" "" "0000164088" "00163223" "1" "02416" "00110" "2012-04-25 20:09:35" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164089" "00163224" "1" "02416" "00110" "2012-04-24 17:59:55" "" "" "SEQ" "DNA" "" "" "0000164090" "00163225" "1" "02416" "00110" "2013-12-30 10:11:15" "" "" "SEQ" "DNA" "" "" "0000164091" "00163226" "1" "02416" "00110" "2012-04-27 16:09:31" "" "" "SEQ" "DNA" "" "" "0000164092" "00163227" "1" "02416" "00110" "2013-12-31 15:14:36" "00110" "2014-01-06 10:14:57" "SEQ" "DNA" "" "" "0000164093" "00163228" "1" "02416" "00110" "2013-12-31 15:19:42" "00110" "2014-01-06 10:36:00" "SEQ" "DNA" "" "" "0000164094" "00163229" "1" "02416" "00110" "2013-12-31 15:23:12" "00110" "2014-01-06 10:41:05" "SEQ" "DNA" "" "" "0000164095" "00163230" "1" "02416" "00110" "2013-12-31 15:25:50" "00110" "2014-01-06 10:44:25" "SEQ" "DNA" "" "" "0000164096" "00163231" "1" "02416" "00110" "2012-04-25 11:42:04" "" "" "SEQ" "DNA" "" "" "0000164097" "00163232" "1" "02416" "00110" "2012-04-25 11:50:06" "00110" "2012-04-25 11:52:41" "SEQ" "DNA" "" "" "0000164098" "00163233" "1" "02416" "00110" "2012-04-25 11:52:03" "" "" "SEQ" "DNA" "" "" "0000164099" "00163234" "1" "02416" "00110" "2012-04-27 16:26:20" "" "" "SEQ" "DNA" "" "" "0000164100" "00163235" "1" "02416" "00110" "2012-04-25 20:13:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164101" "00163236" "1" "02416" "00110" "2012-04-26 09:29:15" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164102" "00163237" "1" "02416" "00110" "2014-02-11 10:51:39" "00110" "2014-02-11 10:52:12" "SEQ" "DNA" "" "" "0000164103" "00163238" "1" "02416" "00110" "2012-04-23 12:21:48" "" "" "SEQ;SSCA" "DNA" "" "" "0000164104" "00163239" "1" "02416" "00110" "2012-04-24 14:32:39" "" "" "PCRdig;SEQ" "DNA" "" "" "0000164105" "00163240" "1" "02416" "00110" "2012-04-24 11:34:07" "00110" "2012-04-24 11:34:48" "HD;PCRdig;SEQ" "DNA" "" "" "0000164106" "00163241" "1" "02416" "00110" "2012-04-25 15:15:47" "00110" "2012-04-25 15:17:00" "DHPLC;SEQ" "DNA" "" "" "0000164107" "00163242" "1" "02416" "00110" "2012-04-25 15:24:29" "00110" "2012-04-25 17:47:23" "DHPLC;SEQ" "DNA" "" "" "0000164108" "00163243" "1" "02416" "00110" "2012-04-24 14:43:11" "" "" "SEQ-NG-S" "DNA" "" "" "0000164109" "00163244" "1" "02416" "00110" "2012-04-24 17:20:59" "" "" "SEQ" "DNA" "" "" "0000164110" "00163245" "1" "02416" "00110" "2012-04-25 15:30:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164111" "00163246" "1" "02416" "00110" "2012-04-25 15:35:41" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164112" "00163247" "1" "02416" "00110" "2012-04-25 18:20:16" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164113" "00163248" "1" "02416" "00110" "2012-04-25 16:38:35" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164114" "00163249" "1" "02416" "00110" "2012-04-23 12:13:46" "" "" "SEQ;SSCA" "DNA" "" "" "0000164115" "00163250" "1" "02416" "00110" "2012-04-25 10:04:40" "00110" "2012-04-25 17:36:03" "SEQ" "DNA" "" "" "0000164116" "00163251" "1" "02416" "00110" "2012-04-25 16:42:03" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164117" "00163252" "1" "02416" "00110" "2012-04-25 16:43:34" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164118" "00163253" "1" "02416" "00110" "2012-04-25 16:45:24" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164119" "00163254" "1" "02416" "00110" "2012-04-25 16:50:14" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164120" "00163255" "1" "02416" "00110" "2012-04-25 16:55:18" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164121" "00163256" "1" "02416" "00110" "2013-12-30 11:53:43" "00110" "2014-01-06 10:12:17" "SEQ" "DNA" "" "" "0000164122" "00163257" "1" "02416" "00110" "2014-01-06 09:16:58" "00110" "2014-01-06 10:45:54" "SEQ" "DNA" "" "" "0000164123" "00163258" "1" "02416" "00110" "2014-01-06 09:22:03" "00110" "2014-01-06 10:53:00" "SEQ" "DNA" "" "" "0000164124" "00163259" "1" "02416" "00110" "2014-01-06 09:29:48" "00110" "2014-01-06 10:56:03" "SEQ" "DNA" "" "" "0000164125" "00163260" "1" "02416" "00110" "2014-01-06 09:34:15" "00110" "2014-01-06 10:57:54" "SEQ" "DNA" "" "" "0000164126" "00163261" "1" "02416" "00110" "2014-01-06 09:37:18" "00110" "2014-01-06 10:58:40" "SEQ" "DNA" "" "" "0000164127" "00163262" "1" "02416" "00110" "2014-01-06 09:41:22" "00110" "2014-01-06 11:00:55" "SEQ" "RNA" "" "" "0000164128" "00163263" "1" "02416" "00110" "2014-01-06 09:47:44" "00110" "2014-01-06 11:02:26" "SEQ" "DNA" "" "" "0000164129" "00163264" "1" "02416" "00110" "2014-01-06 09:49:53" "00110" "2014-01-06 11:11:43" "SEQ" "DNA" "" "" "0000164130" "00163265" "1" "02416" "00110" "2014-01-06 09:51:50" "00110" "2014-01-06 11:13:54" "SEQ" "DNA" "" "" "0000164131" "00163266" "1" "02416" "00110" "2014-01-06 09:54:55" "00110" "2014-01-06 11:14:23" "SEQ" "DNA" "" "" "0000164132" "00163267" "1" "02416" "00110" "2014-01-06 09:57:14" "00110" "2014-01-06 11:15:26" "SEQ" "DNA" "" "" "0000164133" "00163268" "1" "02416" "00110" "2014-01-06 09:59:49" "00110" "2014-01-06 10:54:39" "SEQ" "DNA" "" "" "0000164134" "00163269" "1" "02416" "00110" "2012-04-25 17:01:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000164135" "00163270" "1" "02416" "00110" "2012-04-24 12:17:15" "" "" "SEQ" "DNA" "" "" "0000164136" "00163271" "1" "02416" "00110" "2012-04-24 11:45:51" "" "" "SEQ" "DNA" "" "" "0000164137" "00163272" "1" "02416" "00110" "2012-04-24 16:40:41" "" "" "SEQ" "DNA" "" "" "0000164138" "00163273" "1" "02416" "00110" "2017-08-14 17:38:10" "00110" "2017-12-06 10:04:41" "SEQ;SEQ-NG-S" "DNA" "" "" "0000277090" "00275937" "1" "03557" "03557" "2020-01-21 10:04:19" "00006" "2020-05-27 12:25:57" "SEQ-NG-I" "DNA" "" "" "0000277092" "00275939" "1" "03557" "03557" "2020-01-21 10:13:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000291436" "00290268" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291437" "00290269" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291438" "00290270" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291439" "00290271" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291440" "00290272" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291441" "00290273" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308452" "00307310" "1" "01164" "01164" "2020-08-10 12:21:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000311012" "00309868" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328245" "00327031" "1" "03611" "03611" "2021-01-19 04:16:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000328678" "00327464" "1" "03980" "03980" "2021-01-21 23:30:04" "" "" "SEQ-NG" "DNA" "" "" "0000363040" "00361812" "1" "02404" "02404" "2021-04-11 11:49:48" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000395237" "00393989" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000402876" "00401633" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "SEQ;PCR;SEQ-NG" "DNA" "blood" "" "0000420875" "00419571" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000442897" "00441411" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442898" "00441412" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442899" "00441413" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442900" "00441414" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442988" "00441502" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442989" "00441503" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442990" "00441504" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443019" "00441533" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443132" "00441646" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449984" "00448408" "1" "00006" "00006" "2024-03-07 19:57:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449985" "00448409" "1" "00006" "00006" "2024-03-07 19:57:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467107" "00465458" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467108" "00465459" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467109" "00465460" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 103 "{{screeningid}}" "{{geneid}}" "0000050518" "TECTA" "0000059166" "TECTA" "0000059168" "TECTA" "0000059169" "LOXHD1" "0000059169" "TECTA" "0000059170" "TECTA" "0000059171" "PDZD7" "0000059171" "TECTA" "0000059171" "TMC1" "0000080955" "TECTA" "0000164054" "TECTA" "0000164055" "TECTA" "0000164056" "TECTA" "0000164057" "TECTA" "0000164058" "TECTA" "0000164059" "TECTA" "0000164060" "TECTA" "0000164061" "TECTA" "0000164062" "TECTA" "0000164063" "TECTA" "0000164064" "TECTA" "0000164065" "TECTA" "0000164066" "TECTA" "0000164067" "TECTA" "0000164068" "TECTA" "0000164069" "TECTA" "0000164070" "TECTA" "0000164071" "TECTA" "0000164072" "TECTA" "0000164073" "TECTA" "0000164074" "TECTA" "0000164075" "TECTA" "0000164076" "TECTA" "0000164077" "TECTA" "0000164078" "TECTA" "0000164079" "TECTA" "0000164080" "TECTA" "0000164081" "TECTA" "0000164082" "TECTA" "0000164083" "TECTA" "0000164084" "TECTA" "0000164085" "TECTA" "0000164086" "TECTA" "0000164087" "TECTA" "0000164088" "TECTA" "0000164089" "TECTA" "0000164090" "TECTA" "0000164091" "TECTA" "0000164092" "TECTA" "0000164093" "TECTA" "0000164094" "TECTA" "0000164095" "TECTA" "0000164096" "TECTA" "0000164097" "TECTA" "0000164098" "TECTA" "0000164099" "TECTA" "0000164100" "TECTA" "0000164101" "TECTA" "0000164102" "TECTA" "0000164103" "TECTA" "0000164104" "TECTA" "0000164105" "TECTA" "0000164106" "TECTA" "0000164107" "TECTA" "0000164108" "TECTA" "0000164109" "TECTA" "0000164110" "TECTA" "0000164111" "TECTA" "0000164112" "TECTA" "0000164113" "TECTA" "0000164114" "TECTA" "0000164115" "TECTA" "0000164116" "TECTA" "0000164117" "TECTA" "0000164118" "TECTA" "0000164119" "TECTA" "0000164120" "TECTA" "0000164121" "TECTA" "0000164122" "TECTA" "0000164123" "TECTA" "0000164124" "TECTA" "0000164125" "TECTA" "0000164126" "TECTA" "0000164127" "TECTA" "0000164128" "TECTA" "0000164129" "TECTA" "0000164130" "TECTA" "0000164131" "TECTA" "0000164132" "TECTA" "0000164133" "TECTA" "0000164134" "TECTA" "0000164135" "TECTA" "0000164136" "TECTA" "0000164137" "TECTA" "0000164138" "TECTA" "0000277090" "TECTA" "0000277092" "TECTA" "0000311012" "TECTA" "0000363040" "USH2A" "0000395237" "REEP6" "0000402876" "HGF" "0000402876" "MYO7A" "0000402876" "TECTA" ## 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 = 324 "{{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}}" "0000079679" "11" "90" "11" "121000407" "121000407" "subst" "2.03046E-5" "00006" "TECTA_000091" "g.121000407C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.121129698C>T" "" "pathogenic" "" "0000079680" "21" "70" "11" "121008311" "121008311" "subst" "1.62565E-5" "00006" "TECTA_000092" "g.121008311G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.121137602G>C" "" "likely pathogenic" "" "0000089791" "21" "90" "11" "121058558" "121058558" "subst" "0" "01542" "TECTA_000093" "g.121058558A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.121187849A>G" "" "pathogenic" "" "0000089986" "0" "50" "11" "120976597" "120976597" "subst" "0" "01551" "TECTA_000094" "g.120976597T>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.121105888T>A" "" "VUS" "" "0000089988" "0" "50" "11" "121016660" "121016660" "subst" "0" "01551" "TECTA_000098" "g.121016660T>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.121145951T>A" "" "VUS" "" "0000089989" "0" "90" "11" "121023600" "121023600" "subst" "1.2288E-5" "01551" "TECTA_000096" "g.121023600C>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.121152891C>A" "" "pathogenic" "" "0000089990" "0" "70" "11" "121000636" "121000636" "subst" "0.000481338" "01551" "TECTA_000045" "g.121000636A>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.121129927A>G" "" "likely pathogenic" "" "0000089991" "0" "50" "11" "121039445" "121039445" "subst" "0" "01551" "TECTA_000097" "g.121039445A>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.121168736A>G" "" "VUS" "" "0000089992" "0" "30" "11" "121039484" "121039486" "del" "0" "01551" "TECTA_000095" "g.121039484_121039486del" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.121168775_121168777del" "" "likely benign" "" "0000089993" "0" "70" "11" "121000636" "121000636" "subst" "0.000481338" "01551" "TECTA_000045" "g.121000636A>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.121129927A>G" "" "likely pathogenic" "" "0000091238" "11" "90" "11" "121038773" "121038773" "subst" "4.06114E-6" "01542" "TECTA_000015" "g.121038773C>T" "1/120 cases" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "not in 270 hearing controls" "Germline" "yes" "" "0" "" "" "g.121168064C>T" "" "pathogenic" "" "0000091240" "21" "90" "11" "121000866" "121000866" "subst" "1.67047E-5" "01542" "TECTA_000090" "g.121000866G>A" "1/185 cases (het)" "" "" "" "not in 215 hearing controls" "Germline" "yes" "" "0" "" "" "g.121130157G>A" "" "pathogenic" "" "0000128958" "1" "70" "11" "121058543" "121058543" "subst" "0" "01740" "TECTA_000103" "g.121058543G>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.121187834G>T" "" "likely pathogenic" "" "0000128969" "1" "70" "11" "121039429" "121039429" "subst" "0" "01740" "TECTA_000101" "g.121039429A>C" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.121168720A>C" "" "likely pathogenic" "" "0000128973" "1" "70" "11" "121038773" "121038773" "subst" "4.06114E-6" "01740" "TECTA_000015" "g.121038773C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.121168064C>T" "" "likely pathogenic" "" "0000129186" "0" "50" "11" "120998814" "120998814" "subst" "4.08493E-6" "01740" "TECTA_000100" "g.120998814G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.121128105G>A" "" "VUS" "" "0000129190" "0" "50" "11" "121039453" "121039453" "subst" "2.84271E-5" "01740" "TECTA_000102" "g.121039453G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.121168744G>A" "" "VUS" "" "0000130041" "3" "70" "11" "121030843" "121030843" "subst" "0" "01758" "TECTA_000099" "g.121030843G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.121160134G>A" "" "likely pathogenic" "ACMG" "0000248634" "0" "10" "11" "120996292" "120996292" "subst" "0.703231" "02325" "TECTA_000107" "g.120996292A>G" "" "" "" "TECTA(NM_005422.4):c.1485A>G (p.A495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121125583A>G" "" "benign" "" "0000254654" "0" "30" "11" "121028561" "121028561" "subst" "0.000231896" "01943" "TECTA_000115" "g.121028561A>C" "" "" "" "TECTA(NM_005422.2):c.4317A>C (p.L1439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121157852A>C" "" "likely benign" "" "0000311777" "0" "10" "11" "120998942" "120998942" "subst" "0.30677" "02325" "TECTA_000109" "g.120998942C>T" "" "" "" "TECTA(NM_005422.4):c.2256C>T (p.I752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121128233C>T" "" "benign" "" "0000311778" "0" "10" "11" "121000784" "121000784" "subst" "0.696557" "02325" "TECTA_000111" "g.121000784T>C" "" "" "" "TECTA(NM_005422.4):c.2805T>C (p.Y935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121130075T>C" "" "benign" "" "0000311779" "0" "10" "11" "121032978" "121032978" "subst" "0.99284" "02325" "TECTA_000117" "g.121032978G>A" "" "" "" "TECTA(NM_005422.4):c.5171G>A (p.S1724N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121162269G>A" "" "benign" "" "0000311780" "0" "10" "11" "121038810" "121038810" "subst" "0.170376" "02325" "TECTA_000118" "g.121038810C>T" "" "" "" "TECTA(NM_005422.4):c.5634C>T (p.S1878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121168101C>T" "" "benign" "" "0000316434" "0" "30" "11" "120998747" "120998747" "subst" "0.00172307" "01943" "TECTA_000108" "g.120998747C>G" "" "" "" "TECTA(NM_005422.2):c.2061C>G (p.N687K), TECTA(NM_005422.4):c.2061C>G (p.N687K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121128038C>G" "" "likely benign" "" "0000316435" "0" "30" "11" "121000760" "121000760" "subst" "0.00426339" "01943" "TECTA_000110" "g.121000760T>C" "" "" "" "TECTA(NM_005422.2):c.2781T>C (p.H927=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121130051T>C" "" "likely benign" "" "0000316436" "0" "50" "11" "121000788" "121000788" "subst" "3.65857E-5" "01943" "TECTA_000112" "g.121000788C>T" "" "" "" "TECTA(NM_005422.2):c.2809C>T (p.R937C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121130079C>T" "" "VUS" "" "0000316437" "0" "50" "11" "121000920" "121000920" "subst" "5.6006E-5" "01943" "TECTA_000113" "g.121000920C>T" "" "" "" "TECTA(NM_005422.2):c.2941C>T (p.P981S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121130211C>T" "" "VUS" "" "0000316438" "0" "30" "11" "120973407" "120973407" "subst" "0.000199455" "01943" "TECTA_000104" "g.120973407C>A" "" "" "" "TECTA(NM_005422.2):c.33C>A (p.V11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121102698C>A" "" "likely benign" "" "0000316439" "0" "50" "11" "121032938" "121032938" "subst" "0.000247704" "01943" "TECTA_000116" "g.121032938C>T" "" "" "" "TECTA(NM_005422.2):c.5131C>T (p.L1711F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121162229C>T" "" "VUS" "" "0000316440" "0" "50" "11" "120983832" "120983832" "subst" "4.06187E-5" "01943" "TECTA_000105" "g.120983832C>T" "" "" "" "TECTA(NM_005422.2):c.538C>T (p.L180F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121113123C>T" "" "VUS" "" "0000316441" "0" "30" "11" "121039471" "121039471" "subst" "0.00049143" "01943" "TECTA_000119" "g.121039471T>C" "" "" "" "TECTA(NM_005422.2):c.5836T>C (p.Y1946H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121168762T>C" "" "likely benign" "" "0000316442" "0" "50" "11" "121058704" "121058704" "subst" "8.1324E-6" "01943" "TECTA_000120" "g.121058704G>A" "" "" "" "TECTA(NM_005422.2):c.6162+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121187995G>A" "" "VUS" "" "0000316443" "0" "30" "11" "121061475" "121061475" "subst" "0.00301912" "01943" "TECTA_000121" "g.121061475C>T" "" "" "" "TECTA(NM_005422.2):c.6428C>T (p.S2143L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121190766C>T" "" "likely benign" "" "0000316444" "0" "30" "11" "120984321" "120984321" "subst" "0.000215297" "01943" "TECTA_000106" "g.120984321C>G" "" "" "" "TECTA(NM_005422.2):c.684C>G (p.P228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121113612C>G" "" "likely benign" "" "0000336853" "0" "10" "11" "120972161" "120972161" "subst" "0" "02327" "TECTA_000162" "g.120972161A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121101452A>G" "" "benign" "" "0000336854" "0" "10" "11" "120972112" "120972112" "subst" "0" "02327" "TECTA_000161" "g.120972112T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121101403T>C" "" "benign" "" "0000336862" "0" "10" "11" "121036095" "121036095" "subst" "0.00235553" "02327" "TECTA_000155" "g.121036095G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121165386G>A" "" "benign" "" "0000336863" "0" "10" "11" "120983929" "120983929" "subst" "0.00864989" "02327" "TECTA_000126" "g.120983929C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121113220C>G" "" "benign" "" "0000337047" "0" "10" "11" "120983762" "120983762" "subst" "0.000142304" "02327" "TECTA_000125" "g.120983762G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121113053G>A" "" "benign" "" "0000337048" "0" "70" "11" "121036097" "121036097" "subst" "0" "02327" "TECTA_000156" "g.121036097G>A" "" "" "" "TECTA(NM_005422.2):c.5383+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121165388G>A" "" "likely pathogenic" "" "0000339200" "0" "30" "11" "120998480" "120998480" "subst" "0.000347154" "02327" "TECTA_000133" "g.120998480G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121127771G>C" "" "likely benign" "" "0000339330" "0" "10" "11" "121008200" "121008200" "subst" "0.00519826" "02327" "TECTA_000141" "g.121008200C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121137491C>G" "" "benign" "" "0000339331" "0" "10" "11" "121028666" "121028666" "subst" "0.0214438" "02327" "TECTA_000150" "g.121028666C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121157957C>T" "" "benign" "" "0000339332" "0" "10" "11" "121038909" "121038909" "subst" "0.00768768" "02327" "TECTA_000158" "g.121038909T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121168200T>G" "" "benign" "" "0000340777" "0" "50" "11" "121031119" "121031119" "subst" "6.16741E-5" "02327" "TECTA_000153" "g.121031119C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121160410C>T" "" "VUS" "" "0000341048" "0" "30" "11" "120973407" "120973407" "subst" "0.000199455" "02327" "TECTA_000104" "g.120973407C>A" "" "" "" "TECTA(NM_005422.2):c.33C>A (p.V11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121102698C>A" "" "likely benign" "" "0000341471" "0" "10" "11" "120996292" "120996292" "subst" "0.703231" "02327" "TECTA_000107" "g.120996292A>G" "" "" "" "TECTA(NM_005422.4):c.1485A>G (p.A495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121125583A>G" "" "benign" "" "0000341830" "0" "50" "11" "121016571" "121016571" "subst" "8.52785E-5" "02327" "TECTA_000145" "g.121016571G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121145862G>A" "" "VUS" "" "0000342144" "0" "70" "11" "121038844" "121038844" "subst" "0" "02327" "TECTA_000012" "g.121038844C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121168135C>T" "" "likely pathogenic" "" "0000342196" "0" "90" "11" "121058603" "121058603" "subst" "4.06081E-6" "02327" "TECTA_000009" "g.121058603G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121187894G>A" "" "pathogenic" "" "0000342757" "0" "10" "11" "120989335" "120989335" "subst" "0.397519" "02327" "TECTA_000127" "g.120989335A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121118626A>G" "" "benign" "" "0000343289" "0" "50" "11" "120998812" "120998812" "subst" "0" "02327" "TECTA_000135" "g.120998812G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121128103G>A" "" "VUS" "" "0000343532" "0" "30" "11" "121000902" "121000902" "subst" "5.56397E-5" "02327" "TECTA_000139" "g.121000902C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121130193C>T" "" "likely benign" "" "0000343815" "0" "30" "11" "120998747" "120998747" "subst" "0.00172307" "02327" "TECTA_000108" "g.120998747C>G" "" "" "" "TECTA(NM_005422.2):c.2061C>G (p.N687K), TECTA(NM_005422.4):c.2061C>G (p.N687K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121128038C>G" "" "likely benign" "" "0000343840" "0" "50" "11" "121000636" "121000636" "subst" "0.000481338" "02327" "TECTA_000045" "g.121000636A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121129927A>G" "" "VUS" "" "0000343882" "0" "50" "11" "121008594" "121008594" "subst" "0.000144022" "02327" "TECTA_000039" "g.121008594G>C" "" "" "" "TECTA(NM_005422.2):c.3406G>C (p.D1136H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121137885G>C" "" "VUS" "" "0000344224" "0" "70" "11" "121008277" "121008277" "subst" "0" "02327" "TECTA_000142" "g.121008277G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121137568G>C" "" "likely pathogenic" "" "0000344255" "0" "70" "11" "121016574" "121016577" "delins" "0" "02327" "TECTA_000146" "g.121016574_121016577delinsTTCT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121145865_121145868delinsTTCT" "" "likely pathogenic" "" "0000344267" "0" "90" "11" "121023600" "121023600" "subst" "1.2288E-5" "02327" "TECTA_000096" "g.121023600C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121152891C>A" "" "pathogenic" "" "0000344302" "0" "90" "11" "121058543" "121058543" "subst" "0" "02327" "TECTA_000103" "g.121058543G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121187834G>T" "" "pathogenic" "" "0000344433" "0" "50" "11" "120998553" "120998553" "subst" "0" "02327" "TECTA_000134" "g.120998553T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121127844T>C" "" "VUS" "" "0000344637" "0" "10" "11" "120973430" "120973430" "subst" "0.0175592" "02327" "TECTA_000122" "g.120973430A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121102721A>G" "" "benign" "" "0000346307" "0" "50" "11" "121000572" "121000572" "subst" "8.12209E-6" "02327" "TECTA_000137" "g.121000572G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121129863G>A" "" "VUS" "" "0000346540" "0" "50" "11" "121008155" "121008155" "subst" "0.000150491" "02327" "TECTA_000140" "g.121008155C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121137446C>A" "" "VUS" "" "0000346588" "0" "50" "11" "121028889" "121028889" "subst" "4.06375E-6" "02327" "TECTA_000152" "g.121028889A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121158180A>G" "" "VUS" "" "0000346797" "0" "10" "11" "120998942" "120998942" "subst" "0.30677" "02327" "TECTA_000109" "g.120998942C>T" "" "" "" "TECTA(NM_005422.4):c.2256C>T (p.I752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121128233C>T" "" "benign" "" "0000346897" "0" "50" "11" "121028559" "121028559" "subst" "0.00073238" "02327" "TECTA_000149" "g.121028559C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121157850C>A" "" "VUS" "" "0000347136" "0" "50" "11" "120989396" "120989396" "subst" "4.07199E-6" "02327" "TECTA_000128" "g.120989396T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121118687T>C" "" "VUS" "" "0000347180" "0" "50" "11" "120996186" "120996186" "subst" "0" "02327" "TECTA_000130" "g.120996186T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121125477T>C" "" "VUS" "" "0000347639" "0" "50" "11" "120998952" "120998952" "subst" "0.000114323" "02327" "TECTA_000136" "g.120998952A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121128243A>G" "" "VUS" "" "0000348167" "0" "30" "11" "121016463" "121016463" "subst" "0.000316723" "02327" "TECTA_000040" "g.121016463C>T" "" "" "" "TECTA(NM_005422.2):c.3743C>T (p.P1248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121145754C>T" "" "likely benign" "" "0000348769" "0" "30" "11" "121032819" "121032819" "subst" "0.00552524" "02327" "TECTA_000154" "g.121032819C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121162110C>T" "" "likely benign" "" "0000348778" "0" "10" "11" "121032978" "121032978" "subst" "0.99284" "02327" "TECTA_000117" "g.121032978G>A" "" "" "" "TECTA(NM_005422.4):c.5171G>A (p.S1724N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121162269G>A" "" "benign" "" "0000348799" "0" "10" "11" "121038810" "121038810" "subst" "0.170376" "02327" "TECTA_000118" "g.121038810C>T" "" "" "" "TECTA(NM_005422.4):c.5634C>T (p.S1878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121168101C>T" "" "benign" "" "0000349058" "0" "50" "11" "120996309" "120996309" "subst" "0.000484047" "02327" "TECTA_000131" "g.120996309C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121125600C>T" "" "VUS" "" "0000349278" "0" "10" "11" "121016818" "121016818" "subst" "0.187583" "02327" "TECTA_000007" "g.121016818G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121146109G>A" "" "benign" "" "0000349296" "0" "50" "11" "120980179" "120980179" "subst" "0" "02327" "TECTA_000124" "g.120980179C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121109470C>T" "" "VUS" "" "0000349332" "0" "90" "11" "121038773" "121038773" "subst" "4.06114E-6" "02327" "TECTA_000015" "g.121038773C>T" "" "" "" "TECTA(NM_005422.2):c.5597C>T (p.T1866M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121168064C>T" "" "pathogenic" "" "0000349514" "0" "50" "11" "120996098" "120996098" "subst" "0.00031269" "02327" "TECTA_000129" "g.120996098A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121125389A>T" "" "VUS" "" "0000349566" "0" "30" "11" "120996492" "120996492" "subst" "8.12453E-5" "02327" "TECTA_000035" "g.120996492C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121125783C>T" "" "likely benign" "" "0000349642" "0" "50" "11" "120979969" "120979969" "subst" "5.68865E-5" "02327" "TECTA_000013" "g.120979969C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121109260C>T" "" "VUS" "" "0000349968" "0" "50" "11" "121039444" "121039444" "subst" "0" "02327" "TECTA_000159" "g.121039444T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121168735T>C" "" "VUS" "" "0000350218" "0" "10" "11" "121000784" "121000784" "subst" "0.696557" "02327" "TECTA_000111" "g.121000784T>C" "" "" "" "TECTA(NM_005422.4):c.2805T>C (p.Y935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121130075T>C" "" "benign" "" "0000350316" "0" "30" "11" "121028877" "121028877" "subst" "0.000308792" "02327" "TECTA_000151" "g.121028877G>A" "" "" "" "TECTA(NM_005422.2):c.4633G>A (p.V1545I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121158168G>A" "" "likely benign" "" "0000350692" "0" "10" "11" "121000774" "121000774" "subst" "0.216909" "02327" "TECTA_000138" "g.121000774T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121130065T>C" "" "benign" "" "0000350794" "0" "90" "11" "121058704" "121058704" "subst" "8.1324E-6" "02327" "TECTA_000120" "g.121058704G>A" "" "" "" "TECTA(NM_005422.2):c.6162+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121187995G>A" "" "pathogenic" "" "0000350861" "0" "10" "11" "121016838" "121016838" "subst" "0.180039" "02327" "TECTA_000148" "g.121016838C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121146129C>T" "" "benign" "" "0000367113" "0" "55" "11" "120979969" "120979969" "subst" "5.68865E-5" "02416" "TECTA_000013" "g.120979969C>T" "0/330 controls" "{PMID:Platinga et al., 2006:16718611}" "+FatI;+NlaIII;+CviAII;-Hpy166II;" "" "heterozygous, {MSV3dO75443:p.Thr83Met}" "Germline" "" "rs145898158" "0" "" "" "g.121109260C>T" "" "VUS" "ACMG" "0000367114" "3" "99" "11" "120980086" "120980086" "del" "0" "02416" "TECTA_000047" "g.120980086del" "0/200 controls" "{PMID:Meyer et al., 2007:17431902}" "" "266delT" "homozygous" "Germline" "" "" "0" "" "" "g.121109377del" "" "pathogenic" "" "0000367115" "21" "99" "11" "120980194" "120980194" "del" "0" "02416" "TECTA_000080" "g.120980194del" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "473delG" "Heterozygous" "Germline" "" "" "0" "" "" "g.121109485del" "" "pathogenic" "" "0000367116" "21" "95" "11" "120983883" "120983883" "subst" "0" "02416" "TECTA_000030" "g.120983883G>A" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "none" "" "heterozygous, {MSV3dO75443:p.Asp197Asn}" "Germline" "" "" "0" "" "" "g.121113174G>A" "" "VUS" "ACMG" "0000367117" "21" "95" "11" "120984269" "120984269" "subst" "0" "02416" "TECTA_000031" "g.120984269T>C" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+AlwI;+BstYI;+Sau3AI;+MboI;+DpnI;+BfuCl" "" "heterozygous, {MSV3dO75443:p.Phe211Ser}" "Germline" "" "" "0" "" "" "g.121113560T>C" "" "VUS" "ACMG" "0000367118" "3" "99" "11" "120984288" "120984288" "dup" "0" "02416" "TECTA_000010" "g.120984288dup" "0/144 controls" "{PMID:Naz et al., 2003:12746400}" "none" "649insC" "homozygous" "Germline" "" "" "0" "" "" "g.121113579dup" "" "pathogenic" "" "0000367119" "21" "99" "11" "120984293" "120984296" "del" "0" "02416" "TECTA_000016" "g.120984293_120984296del" "0/330 controls" "{PMID:Hutchin et al., 2005:16283880}" "-AcuI;-MboII;" "656_659delTCTT and as F119fsX131" "Heterozygous" "Germline" "" "" "0" "" "" "g.121113584_121113587del" "" "pathogenic" "" "0000367120" "21" "75" "11" "120984347" "120984347" "subst" "0" "00741" "TECTA_000051" "g.120984347C>T" "" "" "" "" "heterozygous, {MSV3dO75443:p.Thr237Ile}" "Germline" "" "" "0" "" "" "g.121113638C>T" "" "VUS" "ACMG" "0000367121" "0" "75" "11" "120989174" "120989174" "subst" "0" "02416" "TECTA_000020" "g.120989174T>A" "0/240 controls" "{PMID:Sagong et al., 2010:20947814}" "+Bpu10I;+MnlI;+BbvCI;+BspCNI;+BseRI;+DdeI;" "" "heterozygous, {MSV3dO75443:p.Val317Glu}" "Germline" "" "" "0" "" "" "g.121118465T>A" "" "VUS" "ACMG" "0000367122" "3" "99" "11" "120989214" "120989214" "subst" "8.1217E-6" "02416" "TECTA_000052" "g.120989214C>A" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.121118505C>A" "" "pathogenic" "" "0000367123" "0" "95" "11" "120989308" "120989308" "subst" "2.03054E-5" "02416" "TECTA_000033" "g.120989308A>T" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "-AcuI;-TspRI;" "" "heterozygous, {MSV3dO75443:p.Ser362Cys}" "Germline" "" "" "0" "" "" "g.121118599A>T" "" "VUS" "ACMG" "0000367124" "10" "55" "11" "120989348" "120989348" "del" "0" "02416" "TECTA_000032" "g.120989348del" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+Fnu4HI;+BsrBI;+AciI;-BsmBI;-BceAI;-BsmAI;" "1124delT" "Heterozygous" "Germline" "" "" "0" "" "" "g.121118639del" "" "VUS" "ACMG" "0000367125" "10" "95" "11" "120996202" "120996202" "subst" "0" "02416" "TECTA_000034" "g.120996202T>G" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "none" "" "heterozygous, {MSV3dO75443:p.Asn465Lys}" "Germline" "" "" "0" "" "" "g.121125493T>G" "" "VUS" "ACMG" "0000367126" "0" "95" "11" "120996492" "120996492" "subst" "8.12453E-5" "02416" "TECTA_000035" "g.120996492C>T" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+SphI;+NspI;+FatI;+NlaIII;+CviAII;" "" "heterozygous, {MSV3dO75443:p.Thr562Met}" "Germline" "" "" "0" "" "" "g.121125783C>T" "" "VUS" "ACMG" "0000367127" "0" "95" "11" "121000423" "121000423" "subst" "0.000182734" "02416" "TECTA_000036" "g.121000423C>T" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "-CviQI;-RsaI;" "" "heterozygous, {MSV3dO75443:p.Thr815Met}" "Germline" "" "rs111759871" "0" "" "" "g.121129714C>T" "" "VUS" "ACMG" "0000367128" "11" "75" "11" "121000571" "121000571" "subst" "4.06138E-6" "02416" "TECTA_000018" "g.121000571C>A" "0/330 controls" "{PMID:Hutchin et al., 2005:16283880}" "-BceAI;" "" "heterozygous, {MSV3dO75443:p.Asn864Lys}" "Germline" "" "" "0" "" "" "g.121129862C>A" "" "VUS" "ACMG" "0000367129" "1" "95" "11" "121000636" "121000636" "subst" "0.000481338" "02416" "TECTA_000045" "g.121000636A>G" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+BtsI;+TspRI;+PstI;+SfcI;-BsrDI;" "" "heterozygous, {MSV3dO75443:p.Asn886Ser}" "Germline" "" "rs146175803" "0" "" "" "g.121129927A>G" "" "VUS" "ACMG" "0000367130" "11" "75" "11" "121000636" "121000636" "subst" "0.000481338" "02416" "TECTA_000045" "g.121000636A>G" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "+BtsI;+TspRI;+PstI;+SfcI;-BsrDI;" "" "heterozygous, {MSV3dO75443:p.Asn886Ser}" "Germline" "" "rs146175803" "0" "" "" "g.121129927A>G" "" "VUS" "ACMG" "0000367131" "3" "99" "11" "121000921" "121000921" "subst" "0" "02416" "TECTA_000005" "g.121000921G>A" "0/202 controls" "{PMID:Mustapha et al., 1999:9949200}" "+PflMI;-BceAI" "IVS9+1G>A" "homozygous" "Germline" "" "" "0" "" "" "g.121130212G>A" "" "pathogenic" "" "0000367132" "3" "99" "11" "121000921" "121016263" "del" "0" "02416" "TECTA_000046" "g.121000921_121016263del" "0/200 controls" "{PMID:Meyer et al., 2007:17431902}" "" "" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367133" "10" "95" "11" "121008295" "121008295" "subst" "5.28245E-5" "02416" "TECTA_000037" "g.121008295G>A" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "-BsaXI (2);" "" "heterozygous, {MSV3dO75443:p.Cys1036Tyr}" "Germline" "" "" "0" "" "" "g.121137586G>A" "" "VUS" "ACMG" "0000367134" "10" "95" "11" "121008295" "121008295" "subst" "5.28245E-5" "02416" "TECTA_000037" "g.121008295G>A" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "-BsaXI (2);" "" "heterozygous, {MSV3dO75443:p.Cys1036Tyr}" "Germline" "" "" "0" "" "" "g.121137586G>A" "" "VUS" "ACMG" "0000367135" "11" "95" "11" "121008358" "121008358" "subst" "0" "02416" "TECTA_000004" "g.121008358T>A" "0/200 controls" "{PMID:Balciuniene et al., 1999:10987647}" "+CviKI_1" "3170T>A" "heterozygous, {MSV3dO75443:p.Cys1057Ser}, also carries 2 likely benign variants described as 1112G>A G371R and 2796C>T A932V but with probable non-HGVS nomenclature\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" "" "rs121909059" "0" "" "" "" "" "VUS" "ACMG" "0000367136" "11" "95" "11" "121008358" "121008358" "subst" "0" "02416" "TECTA_000004" "g.121008358T>A" "0/200 controls" "{PMID:Balciuniene et al., 1999:10987647}" "+CviKI_1" "3170T>A" "heterozygous, {MSV3dO75443:p.Cys1057Ser}\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" "" "rs121909059" "0" "" "" "" "" "VUS" "ACMG" "0000367137" "0" "33" "11" "121008427" "121008427" "subst" "0" "02416" "TECTA_000049" "g.121008427A>T" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "" "" "heterozygous, {MSV3dO75443:p.Asp1080Val}" "Germline" "" "" "0" "" "" "g.121137718A>T" "" "likely benign" "ACMG" "0000367138" "20" "95" "11" "121008481" "121008481" "subst" "1.21922E-5" "02416" "TECTA_000038" "g.121008481C>T" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+BsmBI;+AatII;+ZraI;+HpyCH4IV;+BsmAI;-MnlI;" "" "heterozygous, {MSV3dO75443:p.Ala1098Val}" "Germline" "" "" "0" "" "" "g.121137772C>T" "" "VUS" "ACMG" "0000367139" "10" "95" "11" "121008594" "121008594" "subst" "0.000144022" "02416" "TECTA_000039" "g.121008594G>C" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "-BspCNI;-MlyI;-Hpy188I;-DdeI;-PleI;-HinfI;" "" "heterozygous, {MSV3dO75443:p.Asp1136His}" "Germline" "" "rs147890616" "0" "" "" "g.121137885G>C" "" "VUS" "ACMG" "0000367140" "0" "33" "11" "121008644" "121008644" "subst" "1.63269E-5" "02416" "TECTA_000050" "g.121008644G>A" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "+BccI;-Tsp45I;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.121137935G>A" "" "likely benign" "ACMG" "0000367141" "10" "95" "11" "121016463" "121016463" "subst" "0.000316723" "02416" "TECTA_000040" "g.121016463C>T" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "none" "" "heterozygous, {MSV3dO75443:p.Pro1248Leu}" "Germline" "" "rs138768918" "0" "" "" "g.121145754C>T" "" "VUS" "ACMG" "0000367142" "0" "75" "11" "121016463" "121016463" "subst" "0.000316723" "02416" "TECTA_000040" "g.121016463C>T" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "none" "" "heterozygous, {MSV3dO75443:p.Pro1248Leu}" "Germline" "" "rs138768918" "0" "" "" "g.121145754C>T" "" "VUS" "ACMG" "0000367143" "0" "75" "11" "121016574" "121016574" "subst" "0" "02416" "TECTA_000081" "g.121016574G>A" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "heterozygous, {MSV3dO75443:p.Cys1285Tyr}" "Germline" "" "" "0" "" "" "g.121145865G>A" "" "VUS" "ACMG" "0000367144" "21" "55" "11" "121016775" "121016775" "subst" "3.30978E-5" "02416" "TECTA_000017" "g.121016775G>A" "0/330 controls" "{PMID:Hutchin et al., 2005:16283880}" "-BspMI;-AlwNI;-BfuAI;" "4056G>A" "heterozygous, {MSV3dO75443:p.Cys1352Tyr}" "Germline" "" "" "0" "" "" "g.121146066G>A" "" "VUS" "ACMG" "0000367145" "0" "35" "11" "121016818" "121016818" "subst" "0.187583" "02416" "TECTA_000007" "g.121016818G>A" "9/50 controls" "{PMID:Alloisio et al., 1999:10196713}" "+BtsCI;+FokI;-BmgBI;-AflIII;-HpyCH4IV;" "4099G>A" "Heterozygous" "Germline" "" "rs12275038" "0" "" "" "g.121146109G>A" "" "VUS" "ACMG" "0000367146" "21" "99" "11" "121023682" "121023682" "subst" "0.000235738" "02416" "TECTA_000059" "g.121023682C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.His1400Tyr}" "Germline" "" "" "0" "" "" "g.121152973C>T" "" "pathogenic" "" "0000367147" "11" "99" "11" "121023682" "121023682" "subst" "0.000235738" "02416" "TECTA_000059" "g.121023682C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.His1400Tyr}" "Germline" "" "" "0" "" "" "g.121152973C>T" "" "pathogenic" "" "0000367148" "11" "99" "11" "121023682" "121023682" "subst" "0.000235738" "02416" "TECTA_000059" "g.121023682C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.His1400Tyr}" "Germline" "" "" "0" "" "" "g.121152973C>T" "" "pathogenic" "" "0000367149" "11" "99" "11" "121023682" "121023682" "subst" "0.000235738" "02416" "TECTA_000059" "g.121023682C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.His1400Tyr}" "Germline" "" "" "0" "" "" "g.121152973C>T" "" "pathogenic" "" "0000367150" "21" "95" "11" "121028769" "121028769" "subst" "0" "02416" "TECTA_000023" "g.121028769T>G" "0/116 controls" "{PMID:Pfister et al., 2004:15319541}" "+NlaIV;+HaeII;+BceAI;+BslI;+NarI;+KasI;" "4526T>G" "heterozygous, {MSV3dO75443:p.Cys1509Gly}" "Germline" "" "" "0" "" "" "g.121158060T>G" "" "VUS" "ACMG" "0000367151" "20" "95" "11" "121028793" "121028793" "subst" "0" "02416" "TECTA_000041" "g.121028793T>C" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+BtsCI;+FokI;+EciI;+AciI;" "" "heterozygous, {MSV3dO75443:p.Cys1517Arg}" "Germline" "" "" "0" "" "" "g.121158084T>C" "" "VUS" "ACMG" "0000367152" "21" "55" "11" "121031010" "121031010" "subst" "0" "02416" "TECTA_000006" "g.121031010G>C" "0/200 controls" "{PMID:Alloisio et al., 1999:10196713}" "+MspI;+HpaII;+BsaWI;-AciI;" "4857G>C" "heterozygous, {MSV3dO75443:p.Cys1619Ser}" "Germline" "" "rs121909060" "0" "" "" "g.121160301G>C" "" "VUS" "ACMG" "0000367153" "21" "95" "11" "121032879" "121032879" "subst" "0" "02416" "TECTA_000021" "g.121032879G>T" "0/240 controls" "{PMID:Sagong et al., 2011:22037481}" "+Hpy188III." "" "heterozygous, {MSV3dO75443:p.Cys1691Phe}" "Germline" "" "" "0" "" "" "g.121162170G>T" "" "VUS" "ACMG" "0000367154" "3" "99" "11" "121033017" "121033017" "subst" "4.09299E-6" "02416" "TECTA_000053" "g.121033017A>G" "" "{PMID:Diaz-Horta et al,.2012:23226338}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.121162308A>G" "" "pathogenic" "" "0000367155" "3" "99" "11" "121033018" "121033018" "subst" "0" "02416" "TECTA_000048" "g.121033018C>A" "0/200 controls" "{PMID:Meyer et al., 2007:17431902}" "+DdeI;+Bsu36I;" "" "homozygous" "Germline" "" "" "0" "" "" "g.121162309C>A" "" "pathogenic" "" "0000367156" "21" "99" "11" "121036027" "121036027" "subst" "0" "02416" "TECTA_000055" "g.121036027C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "Heterozygous\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" "" "" "" "" "pathogenic" "" "0000367157" "21" "99" "11" "121036027" "121036027" "subst" "0" "02416" "TECTA_000055" "g.121036027C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "Heterozygous\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" "" "" "" "" "pathogenic" "" "0000367158" "21" "99" "11" "121036027" "121036027" "subst" "0" "02416" "TECTA_000055" "g.121036027C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "Heterozygous\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" "" "" "" "" "pathogenic" "" "0000367159" "21" "99" "11" "121036027" "121036027" "subst" "0" "02416" "TECTA_000055" "g.121036027C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "Heterozygous\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" "" "" "" "" "pathogenic" "" "0000367160" "20" "95" "11" "121036040" "121036040" "subst" "0" "02416" "TECTA_000025" "g.121036040G>A" "0/250 controls" "{PMID:Collin et al., 2008:18575463}" "+BfaI;-BseYI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.121165331G>A" "" "VUS" "ACMG" "0000367161" "0" "95" "11" "121036040" "121036040" "subst" "0" "02416" "TECTA_000025" "g.121036040G>A" "" "{PMID:Collin et al., 2008:18575463}" "+BfaI;-BseYI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.121165331G>A" "" "VUS" "ACMG" "0000367162" "0" "95" "11" "121036040" "121036040" "subst" "0" "02416" "TECTA_000025" "g.121036040G>A" "" "{PMID:Collin et al., 2008:18575463}" "+BfaI;-BseYI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.121165331G>A" "" "VUS" "ACMG" "0000367163" "21" "95" "11" "121036040" "121036040" "subst" "0" "02416" "TECTA_000025" "g.121036040G>A" "" "{PMID:De Heer et al., 2009:19005249}" "+BfaI;-BseYI;" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.121165331G>A" "" "VUS" "ACMG" "0000367164" "0" "95" "11" "121036081" "121036081" "subst" "8.90578E-5" "02416" "TECTA_000042" "g.121036081C>G" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+FauI;+AciI;" "" "heterozygous, {MSV3dO75443:p.Pro1791Arg}" "Germline" "" "" "0" "" "" "g.121165372C>G" "" "VUS" "ACMG" "0000367165" "21" "75" "11" "121036094" "121036094" "subst" "0" "02416" "TECTA_000043" "g.121036094T>G" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "none" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.121165385T>G" "" "VUS" "ACMG" "0000367166" "1" "55" "11" "121036097" "121036100" "del" "0" "02416" "TECTA_000044" "g.121036097_121036100del" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "none" "5383+5delGTGA" "Heterozygous" "Germline" "" "" "0" "" "" "g.121165388_121165391del" "" "VUS" "ACMG" "0000367167" "21" "99" "11" "121036097" "121036100" "del" "0" "02416" "TECTA_000044" "g.121036097_121036100del" "" "{PMID:Lezirovitz et al.,2012:22995349}" "" "5383+5delGTGA" "Heterozygous, skipping of exon 16" "Germline" "" "" "0" "" "" "g.121165388_121165391del" "" "pathogenic" "" "0000367168" "0" "55" "11" "121037361" "121037361" "subst" "0" "02416" "TECTA_000002" "g.121037361C>T" "0/100 controls" "{PMID:Verhoeven et al., 1998:9590290}" "-EarI;-CviKI_1;-MwoI;-SapI;-Cac8I;-BspQI;" "5725C>T" "heterozygous, {MSV3dO75443:p.Leu1820Phe}" "Germline" "" "" "0" "" "" "g.121166652C>T" "" "VUS" "ACMG" "0000367169" "0" "55" "11" "121037374" "121037374" "subst" "4.06101E-5" "02416" "TECTA_000003" "g.121037374G>A" "0/100 controls" "{PMID:Verhoeven et al., 1998:9590290}" "+TaqI" "5738G>A" "heterozygous, {MSV3dO75443:p.Gly1824Asp}" "Germline" "" "" "0" "" "" "g.121166665G>A" "" "VUS" "ACMG" "0000367170" "10" "75" "11" "121037412" "121037412" "subst" "0" "02416" "TECTA_000014" "g.121037412T>C" "0/336 controls" "{PMID:Meyer et al., 2007:17661817}" "+HinP1I;+HhaI;-ApaLI;-Hpy166II;-TspRI;-BaeGI;" "" "heterozygous, {MSV3dO75443:p.Cys1837Arg}" "Germline" "" "rs121909061" "0" "" "" "g.121166703T>C" "" "VUS" "ACMG" "0000367171" "11" "75" "11" "121037412" "121037412" "subst" "0" "02416" "TECTA_000008" "g.121037412T>G" "0/200 controls" "{PMID:Moreno-Pelayo et al., 2001:11333869}" "+NlaIV;+BanI;-ApaLI;-Hpy166II;-TspRI;-HpyCH4III;" "" "heterozygous, {MSV3dO75443:p.Cys1837Gly}" "Germline" "" "rs121909061" "0" "" "" "g.121166703T>G" "" "VUS" "ACMG" "0000367172" "11" "75" "11" "121037412" "121037412" "subst" "0" "02416" "TECTA_000008" "g.121037412T>G" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+NlaIV;+BanI;-ApaLI;-Hpy166II;-TspRI;-HpyCH4III;" "" "heterozygous, {MSV3dO75443:p.Cys1837Gly}" "Germline" "" "rs121909061" "0" "" "" "g.121166703T>G" "" "VUS" "ACMG" "0000367173" "21" "75" "11" "121037412" "121037412" "subst" "0" "02416" "TECTA_000008" "g.121037412T>G" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+NlaIV;+BanI;-ApaLI;-Hpy166II;-TspRI;-HpyCH4III;" "" "heterozygous, {MSV3dO75443:p.Cys1837Gly}" "Germline" "" "rs121909061" "0" "" "" "g.121166703T>G" "" "VUS" "ACMG" "0000367174" "11" "95" "11" "121038773" "121038773" "subst" "4.06114E-6" "02416" "TECTA_000015" "g.121038773C>T" "0/270 controls" "{PMID:Brownstein et al., 2011:21917145}" "+NlaIII;+FatI;+NsiI;+SphI;+CviAII;+NspI;" "" "heterozygous, {MSV3dO75443:p.(Thr1866Met)}" "Germline" "" "rs140236996" "0" "" "" "g.121168064C>T" "" "VUS" "ACMG" "0000367175" "21" "95" "11" "121038773" "121038773" "subst" "4.06114E-6" "02416" "TECTA_000015" "g.121038773C>T" "0/240 controls" "{PMID:Sagong et al., 2010:20947814}" "+NlaIII;+FatI;+NsiI;+SphI;+CviAII;+NspI;" "" "heterozygous, {MSV3dO75443:p.(Thr1866Met)}" "Germline" "" "rs140236996" "0" "" "" "g.121168064C>T" "" "VUS" "ACMG" "0000367176" "21" "95" "11" "121038773" "121038773" "subst" "4.06114E-6" "02416" "TECTA_000015" "g.121038773C>T" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+NlaIII;+FatI;+NsiI;+SphI;+CviAII;+NspI;" "" "heterozygous, {MSV3dO75443:p.(Thr1866Met)}" "Germline" "" "rs140236996" "0" "" "" "g.121168064C>T" "" "VUS" "ACMG" "0000367177" "0" "95" "11" "121038773" "121038773" "subst" "4.06114E-6" "02416" "TECTA_000015" "g.121038773C>T" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+NlaIII;+FatI;+NsiI;+SphI;+CviAII;+NspI;" "" "heterozygous, {MSV3dO75443:p.(Thr1866Met)}" "Germline" "" "rs140236996" "0" "" "" "g.121168064C>T" "" "VUS" "ACMG" "0000367178" "3" "95" "11" "121038773" "121038773" "subst" "4.06114E-6" "02416" "TECTA_000015" "g.121038773C>T" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+NlaIII;+FatI;+NsiI;+SphI;+CviAII;+NspI;" "" "homozygous, {MSV3dO75443:p.(Thr1866Met)}" "Germline" "" "rs140236996" "0" "" "" "g.121168064C>T" "" "VUS" "ACMG" "0000367179" "21" "99" "11" "121038773" "121038773" "subst" "4.06114E-6" "02416" "TECTA_000015" "g.121038773C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Thr1866Met}" "Germline" "" "" "0" "" "" "g.121168064C>T" "" "pathogenic" "" "0000367180" "11" "99" "11" "121038773" "121038773" "subst" "4.06114E-6" "02416" "TECTA_000015" "g.121038773C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Thr1866Met}" "Germline" "" "" "0" "" "" "g.121168064C>T" "" "pathogenic" "" "0000367181" "11" "99" "11" "121038773" "121038773" "subst" "4.06114E-6" "02416" "TECTA_000015" "g.121038773C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Thr1866Met}" "Germline" "" "" "0" "" "" "g.121168064C>T" "" "pathogenic" "" "0000367182" "11" "99" "11" "121038773" "121038773" "subst" "4.06114E-6" "02416" "TECTA_000015" "g.121038773C>T" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Thr1866Met}" "Germline" "" "" "0" "" "" "g.121168064C>T" "" "pathogenic" "" "0000367183" "0" "95" "11" "121038776" "121038776" "subst" "0" "02416" "TECTA_000026" "g.121038776A>G" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+BstUI;+MluI;+AflIII;" "" "heterozygous, {MSV3dO75443:p.His1867Arg}" "Germline" "" "" "0" "" "" "g.121168067A>G" "" "VUS" "ACMG" "0000367184" "1" "95" "11" "121038785" "121038785" "subst" "0" "02416" "TECTA_000001" "g.121038785A>G" "0/100 controls" "{PMID:Verhoeven et al., 1998:9590290}" "none" "5876A>G" "heterozygous, {MSV3dO75443:p.Tyr1870Cys}" "Germline" "" "" "0" "" "" "g.121168076A>G" "" "VUS" "ACMG" "0000367185" "0" "15" "11" "121038812" "121038812" "subst" "0" "02416" "TECTA_000024" "g.121038812C>T" "" "{PMID:Fujikawa et al., 2010:19877185}" "+HincII;+HgaI;+Hpy166II;-HinP1I;-HaeII;-HhaI;" "5634C>T" "heterozygous, {MSV3dO75443:p.Ala1879Val}, also carries c.2507A>C in WFS1, c.5636C>T in TECTA" "Germline" "" "" "0" "" "" "g.121168103C>T" "" "VUS" "ACMG" "0000367186" "11" "95" "11" "121038844" "121038844" "subst" "0" "02416" "TECTA_000012" "g.121038844C>T" "0/368 controls" "{PMID:Platinga et al., 2006:16718611}" "AlwNI;+BsgI;+HpyCH4V;-Sau96I;-NlaIV;-AvaII;" "" "heterozygous, {MSV3dO75443:p.Arg1890Cys}" "Germline" "" "rs121909063" "0" "" "" "g.121168135C>T" "" "VUS" "ACMG" "0000367187" "11" "95" "11" "121038844" "121038844" "subst" "0" "02416" "TECTA_000012" "g.121038844C>T" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "AlwNI;+BsgI;+HpyCH4V;-Sau96I;-NlaIV;-AvaII;" "" "heterozygous, {MSV3dO75443:p.Arg1890Cys}" "Germline" "" "rs121909063" "0" "" "" "g.121168135C>T" "" "VUS" "ACMG" "0000367188" "11" "95" "11" "121038844" "121038844" "subst" "0" "02416" "TECTA_000012" "g.121038844C>T" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "AlwNI;+BsgI;+HpyCH4V;-Sau96I;-NlaIV;-AvaII;" "" "heterozygous, {MSV3dO75443:p.Arg1890Cys}" "Germline" "" "rs121909063" "0" "" "" "g.121168135C>T" "" "VUS" "ACMG" "0000367189" "21" "95" "11" "121038844" "121038844" "subst" "0" "02416" "TECTA_000012" "g.121038844C>T" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "AlwNI;+BsgI;+HpyCH4V;-Sau96I;-NlaIV;-AvaII;" "" "heterozygous, {MSV3dO75443:p.Arg1890Cys}" "Germline" "" "rs121909063" "0" "" "" "g.121168135C>T" "" "VUS" "ACMG" "0000367190" "0" "95" "11" "121038868" "121038868" "subst" "0" "02416" "TECTA_000027" "g.121038868T>C" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+HpyCH4IV;+PmlI;+BsaAI;-FatI;-NlaIII;-CviAII;" "" "heterozygous, {MSV3dO75443:p.Cys1898Arg}" "Germline" "" "" "0" "" "" "g.121168159T>C" "" "VUS" "ACMG" "0000367191" "0" "95" "11" "121039474" "121039474" "subst" "0" "02416" "TECTA_000028" "g.121039474C>T" "0/208 controls" "{PMID:Hildebrand et al., 2011:21520338}" "-AciI;" "" "heterozygous, {MSV3dO75443:p.Arg1947Cys}" "Germline" "" "" "0" "" "" "g.121168765C>T" "" "VUS" "ACMG" "0000367192" "1" "99" "11" "121039580" "121039580" "subst" "0" "02416" "TECTA_000054" "g.121039580C>A" "" "{PMID:Li et al,.2012:23936151}" "" "" "heterozygous, {MSV3dO75443:p.Ala1982Asp}" "Germline" "" "" "0" "" "" "g.121168871C>A" "" "pathogenic" "" "0000367193" "1" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367194" "1" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367195" "1" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367196" "1" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367197" "11" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367198" "11" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367199" "11" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367200" "11" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367201" "11" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367202" "11" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367203" "11" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367204" "11" "99" "11" "121039625" "121039625" "subst" "8.1479E-6" "02416" "TECTA_000067" "g.121039625T>C" "" "{PMID:Moteki et al,.2012:22718023}" "" "" "heterozygous, {MSV3dO75443:p.Ile1997Thr}" "Germline" "" "" "0" "" "" "g.121168916T>C" "" "pathogenic" "" "0000367205" "21" "95" "11" "121058567" "121058567" "subst" "0" "02416" "TECTA_000029" "g.121058567T>C" "0/200 controls" "{PMID:Hildebrand et al., 2011:21520338}" "+BsrI;+TspRI;" "" "heterozygous, {MSV3dO75443:p.Ile2009Thr}" "Germline" "" "" "0" "" "" "g.121187858T>C" "" "VUS" "ACMG" "0000367206" "3" "99" "11" "121058578" "121058578" "del" "0" "02416" "TECTA_000011" "g.121058578del" "0/360 controls" "{PMID:Naz et al., 2003:12746400}" "+Hpy188III;-BseRI;-MnlI;-BcgI (2);" "6037delG" "homozygous" "Germline" "" "" "0" "" "" "g.121187869del" "" "pathogenic" "" "0000367207" "0" "95" "11" "121058603" "121058603" "subst" "4.06081E-6" "02416" "TECTA_000009" "g.121058603G>A" "0/192 controls" "{PMID:Iwasaki et al., 2002:12162770}" "+Tsp45I;" "6063G>A" "heterozygous, {MSV3dO75443:p.Arg2021His}" "Germline" "" "rs121909062" "0" "" "" "g.121187894G>A" "" "VUS" "ACMG" "0000367208" "11" "95" "11" "121058706" "121058707" "ins" "0" "02416" "TECTA_000022" "g.121058706_121058707insT" "0/240 controls" "{PMID:Sagong et al., 2011:22037481}" "none" "6162+3insT" "Heterozygous" "Germline" "" "" "0" "" "" "g.121187997_121187998insT" "" "VUS" "ACMG" "0000367209" "3" "99" "11" "121059829" "121059844" "del" "0" "02416" "TECTA_000019" "g.121059829_121059844del" "0/200 controls" "{PMID:Alasti et al., 2008:18022253}" "-Bsp1286I;-BanII;-CviKI_1;" "6203_6218del16 and once 6206_6217del16" "homozygous" "Germline" "" "" "0" "" "" "g.121189120_121189135del" "" "pathogenic" "" "0000367210" "0" "75" "11" "121059862" "121059862" "subst" "0" "02416" "TECTA_000082" "g.121059862C>T" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "Heterozygous" "De novo" "" "" "0" "" "" "g.121189153C>T" "" "VUS" "ACMG" "0000542722" "0" "30" "11" "120979917" "120979917" "subst" "2.84988E-5" "01943" "TECTA_000163" "g.120979917T>C" "" "" "" "TECTA(NM_005422.2):c.199-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121109208T>C" "" "likely benign" "" "0000542723" "0" "50" "11" "120979992" "120979992" "subst" "0" "02327" "TECTA_000164" "g.120979992G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121109283G>A" "" "VUS" "" "0000542724" "0" "50" "11" "120980056" "120980056" "subst" "4.06187E-6" "02327" "TECTA_000165" "g.120980056A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121109347A>G" "" "VUS" "" "0000542725" "0" "50" "11" "120983883" "120983883" "subst" "0" "02327" "TECTA_000030" "g.120983883G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121113174G>A" "" "VUS" "" "0000542728" "0" "30" "11" "120984351" "120984351" "subst" "7.719E-5" "01943" "TECTA_000168" "g.120984351C>T" "" "" "" "TECTA(NM_005422.2):c.714C>T (p.N238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121113642C>T" "" "likely benign" "" "0000542729" "0" "50" "11" "120989356" "120989356" "subst" "8.12348E-5" "02327" "TECTA_000169" "g.120989356G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121118647G>A" "" "VUS" "" "0000542730" "0" "30" "11" "120996316" "120996316" "subst" "0.000655105" "01943" "TECTA_000170" "g.120996316C>T" "" "" "" "TECTA(NM_005422.2):c.1509C>T (p.C503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121125607C>T" "" "likely benign" "" "0000542732" "0" "50" "11" "120998799" "120998799" "subst" "0" "02327" "TECTA_000172" "g.120998799T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121128090T>C" "" "VUS" "" "0000542733" "0" "50" "11" "120998941" "120998941" "subst" "5.90812E-5" "02327" "TECTA_000173" "g.120998941T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121128232T>C" "" "VUS" "" "0000542735" "0" "50" "11" "121000759" "121000759" "subst" "4.06855E-6" "02327" "TECTA_000175" "g.121000759A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121130050A>G" "" "VUS" "" "0000542736" "0" "50" "11" "121008210" "121008215" "dup" "0" "01943" "TECTA_000176" "g.121008210_121008215dup" "" "" "" "TECTA(NM_005422.2):c.3022_3027dupATCTGC (p.I1008_C1009dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121137501_121137506dup" "" "VUS" "" "0000542737" "0" "50" "11" "121008583" "121008583" "subst" "8.22402E-6" "01943" "TECTA_000177" "g.121008583G>A" "" "" "" "TECTA(NM_005422.2):c.3395G>A (p.R1132K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121137874G>A" "" "VUS" "" "0000542738" "0" "50" "11" "121008594" "121008594" "subst" "0.000144022" "01943" "TECTA_000039" "g.121008594G>C" "" "" "" "TECTA(NM_005422.2):c.3406G>C (p.D1136H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121137885G>C" "" "VUS" "" "0000542739" "0" "50" "11" "121016276" "121016276" "subst" "0.000874417" "01943" "TECTA_000178" "g.121016276C>T" "" "" "" "TECTA(NM_005422.2):c.3556C>T (p.R1186W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121145567C>T" "" "VUS" "" "0000542740" "0" "50" "11" "121016463" "121016463" "subst" "0.000316723" "01943" "TECTA_000040" "g.121016463C>T" "" "" "" "TECTA(NM_005422.2):c.3743C>T (p.P1248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121145754C>T" "" "VUS" "" "0000542741" "0" "10" "11" "121016731" "121016731" "subst" "0.00129763" "01943" "TECTA_000179" "g.121016731G>A" "" "" "" "TECTA(NM_005422.2):c.4011G>A (p.A1337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121146022G>A" "" "benign" "" "0000542742" "0" "30" "11" "121016740" "121016740" "subst" "5.31741E-5" "01943" "TECTA_000180" "g.121016740C>T" "" "" "" "TECTA(NM_005422.2):c.4020C>T (p.T1340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121146031C>T" "" "likely benign" "" "0000542743" "0" "10" "11" "121016794" "121016794" "subst" "0.00125457" "01943" "TECTA_000181" "g.121016794G>A" "" "" "" "TECTA(NM_005422.2):c.4074G>A (p.T1358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121146085G>A" "" "benign" "" "0000542744" "0" "50" "11" "121016799" "121016799" "subst" "0" "02327" "TECTA_000182" "g.121016799C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121146090C>T" "" "VUS" "" "0000542745" "0" "90" "11" "121016805" "121016805" "subst" "3.79817E-5" "02327" "TECTA_000183" "g.121016805G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121146096G>A" "" "pathogenic" "" "0000542746" "0" "50" "11" "121028685" "121028685" "subst" "2.44946E-5" "02327" "TECTA_000184" "g.121028685A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121157976A>G" "" "VUS" "" "0000542747" "0" "90" "11" "121028739" "121028740" "del" "0" "01943" "TECTA_000185" "g.121028739_121028740del" "" "" "" "TECTA(NM_005422.2):c.4495_4496delGA (p.D1499Rfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121158030_121158031del" "" "pathogenic" "" "0000542748" "0" "50" "11" "121028766" "121028766" "subst" "4.06894E-6" "01943" "TECTA_000186" "g.121028766A>G" "" "" "" "TECTA(NM_005422.2):c.4522A>G (p.N1508D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121158057A>G" "" "VUS" "" "0000542749" "0" "50" "11" "121028795" "121028795" "subst" "0" "02327" "TECTA_000187" "g.121028795C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121158086C>G" "" "VUS" "" "0000542750" "0" "90" "11" "121028845" "121028845" "subst" "4.06138E-6" "02327" "TECTA_000188" "g.121028845G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121158136G>A" "" "pathogenic" "" "0000542751" "0" "30" "11" "121028877" "121028877" "subst" "0.000308792" "01943" "TECTA_000151" "g.121028877G>A" "" "" "" "TECTA(NM_005422.2):c.4633G>A (p.V1545I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121158168G>A" "" "likely benign" "" "0000542752" "0" "50" "11" "121030956" "121030956" "subst" "2.84241E-5" "01943" "TECTA_000189" "g.121030956A>G" "" "" "" "TECTA(NM_005422.2):c.4802A>G (p.N1601S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121160247A>G" "" "VUS" "" "0000542753" "0" "30" "11" "121032853" "121032853" "subst" "9.74667E-5" "01943" "TECTA_000190" "g.121032853C>T" "" "" "" "TECTA(NM_005422.2):c.5046C>T (p.I1682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121162144C>T" "" "likely benign" "" "0000542754" "0" "50" "11" "121032915" "121032915" "subst" "1.62426E-5" "01943" "TECTA_000191" "g.121032915C>T" "" "" "" "TECTA(NM_005422.2):c.5108C>T (p.P1703L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121162206C>T" "" "VUS" "" "0000542755" "0" "90" "11" "121036097" "121036100" "del" "0" "01943" "TECTA_000044" "g.121036097_121036100del" "" "" "" "TECTA(NM_005422.2):c.5383_5383+3delAGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121165388_121165391del" "" "pathogenic" "" "0000542756" "0" "50" "11" "121037320" "121037320" "subst" "0" "01943" "TECTA_000192" "g.121037320G>A" "" "" "" "TECTA(NM_005422.2):c.5417G>A (p.C1806Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121166611G>A" "" "VUS" "" "0000542757" "0" "50" "11" "121038845" "121038845" "subst" "2.03054E-5" "01943" "TECTA_000193" "g.121038845G>A" "" "" "" "TECTA(NM_005422.2):c.5669G>A (p.R1890H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121168136G>A" "" "VUS" "" "0000542758" "0" "50" "11" "121038848" "121038848" "subst" "0.000101521" "01943" "TECTA_000194" "g.121038848C>T" "" "" "" "TECTA(NM_005422.2):c.5672C>T (p.T1891M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121168139C>T" "" "VUS" "" "0000542759" "0" "50" "11" "121058600" "121058600" "subst" "0" "02327" "TECTA_000195" "g.121058600G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121187891G>A" "" "VUS" "" "0000613108" "0" "90" "11" "120980043" "120980043" "subst" "8.12414E-6" "02327" "TECTA_000196" "g.120980043C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121109334C>T" "" "pathogenic" "" "0000613109" "0" "50" "11" "120980181" "120980181" "subst" "0" "02327" "TECTA_000197" "g.120980181T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121109472T>C" "" "VUS" "" "0000613110" "0" "50" "11" "121008133" "121008133" "subst" "0.000187449" "02327" "TECTA_000198" "g.121008133T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121137424T>C" "" "VUS" "" "0000613111" "0" "50" "11" "121008505" "121008505" "subst" "0.000191329" "02327" "TECTA_000199" "g.121008505G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121137796G>A" "" "VUS" "" "0000613112" "0" "50" "11" "121016276" "121016276" "subst" "0.000874417" "02327" "TECTA_000178" "g.121016276C>T" "" "" "" "TECTA(NM_005422.2):c.3556C>T (p.R1186W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121145567C>T" "" "VUS" "" "0000613113" "0" "50" "11" "121028625" "121028625" "subst" "0" "02327" "TECTA_000200" "g.121028625C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121157916C>G" "" "VUS" "" "0000613114" "0" "50" "11" "121033017" "121033017" "subst" "4.09299E-6" "01943" "TECTA_000053" "g.121033017A>G" "" "" "" "TECTA(NM_005422.2):c.5210A>G (p.Y1737C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121162308A>G" "" "VUS" "" "0000622577" "0" "30" "11" "121039389" "121039389" "subst" "4.46701E-5" "01943" "TECTA_000201" "g.121039389A>T" "" "" "" "TECTA(NM_005422.2):c.5754A>T (p.V1918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121168680A>T" "" "likely benign" "" "0000631823" "0" "70" "11" "120998697" "120998697" "subst" "0" "03557" "TECTA_000202" "g.120998697T>C" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.121127988T>C" "" "likely pathogenic (dominant)" "ACMG" "0000648125" "1" "50" "11" "121000423" "121000423" "subst" "0.000182734" "03575" "TECTA_000036" "g.121000423C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs111759871}" "Germline" "" "rs111759871" "0" "" "" "g.121129714C>T" "" "VUS" "" "0000648126" "1" "90" "11" "121008357" "121008357" "subst" "4.06527E-6" "03575" "TECTA_000203" "g.121008357T>A" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121909059}" "Germline" "" "rs121909059" "0" "" "" "g.121137648T>A" "" "pathogenic" "" "0000648127" "1" "50" "11" "121008594" "121008594" "subst" "0.000144022" "03575" "TECTA_000039" "g.121008594G>C" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs147890616}" "Germline" "" "rs147890616" "0" "" "" "g.121137885G>C" "" "VUS" "" "0000648128" "1" "30" "11" "121028559" "121028559" "subst" "0.00073238" "03575" "TECTA_000149" "g.121028559C>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs202199158}" "Germline" "" "rs202199158" "0" "" "" "g.121157850C>A" "" "likely benign" "" "0000648129" "1" "30" "11" "121028666" "121028666" "subst" "0.0214438" "03575" "TECTA_000150" "g.121028666C>T" "29/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "29 heterozygous, no homozygous; {DB:CLININrs33981325}" "Germline" "" "rs33981325" "0" "" "" "g.121157957C>T" "" "likely benign" "" "0000648130" "1" "50" "11" "121037374" "121037374" "subst" "4.06101E-5" "03575" "TECTA_000003" "g.121037374G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 heterozygous, no homozygous; {DB:CLININrs267607107}" "Germline" "" "rs267607107" "0" "" "" "g.121166665G>A" "" "VUS" "" "0000656720" "0" "70" "11" "120996030" "120996030" "subst" "0" "02327" "TECTA_000204" "g.120996030C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121125321C>T" "" "likely pathogenic" "" "0000656721" "0" "50" "11" "121016682" "121016682" "subst" "0" "02327" "TECTA_000205" "g.121016682C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121145973C>T" "" "VUS" "" "0000656722" "0" "50" "11" "121033031" "121033031" "subst" "0" "02327" "TECTA_000206" "g.121033031C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121162322C>T" "" "VUS" "" "0000656723" "0" "70" "11" "121036097" "121036097" "subst" "0" "01943" "TECTA_000156" "g.121036097G>A" "" "" "" "TECTA(NM_005422.2):c.5383+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121165388G>A" "" "likely pathogenic" "" "0000656724" "0" "50" "11" "121058575" "121058575" "subst" "8.52785E-5" "02327" "TECTA_000207" "g.121058575G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121187866G>A" "" "VUS" "" "0000656725" "0" "50" "11" "121058674" "121058674" "subst" "0" "02327" "TECTA_000208" "g.121058674T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121187965T>G" "" "VUS" "" "0000667180" "0" "70" "11" "121036097" "121036100" "del" "0" "00006" "TECTA_000044" "g.121036097_121036100del" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "ACMG PS2, PM2" "De novo" "" "" "0" "" "" "g.121165388_121165391del" "" "likely pathogenic (dominant)" "ACMG" "0000679083" "0" "50" "11" "120996458" "120996458" "subst" "0.000483359" "01943" "TECTA_000209" "g.120996458G>A" "" "" "" "TECTA(NM_005422.2):c.1651G>A (p.V551M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679084" "0" "30" "11" "120998520" "120998520" "subst" "0.000378779" "01943" "TECTA_000210" "g.120998520G>A" "" "" "" "TECTA(NM_005422.2):c.1834G>A (p.D612N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679085" "0" "30" "11" "121008680" "121008680" "subst" "0.000372563" "01943" "TECTA_000211" "g.121008680C>T" "" "" "" "TECTA(NM_005422.2):c.3492C>T (p.T1164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679086" "0" "30" "11" "121032967" "121032967" "subst" "0.000369579" "01943" "TECTA_000212" "g.121032967C>T" "" "" "" "TECTA(NM_005422.2):c.5160C>T (p.D1720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679087" "0" "70" "11" "121039550" "121039550" "subst" "0" "02327" "TECTA_000213" "g.121039550A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000682859" "0" "50" "11" "121016787" "121016787" "subst" "2.49711E-5" "01164" "TECTA_000214" "g.121016787G>A" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "rs727503461" "0" "" "" "" "" "VUS" "ACMG" "0000686162" "1" "90" "11" "121038773" "121038773" "subst" "4.06114E-6" "00006" "TECTA_000015" "g.121038773C>T" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000690966" "0" "50" "11" "121023647" "121023647" "subst" "0.000374407" "01943" "TECTA_000215" "g.121023647G>A" "" "" "" "TECTA(NM_005422.2):c.4163G>A (p.R1388H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000712172" "0" "50" "11" "120996519" "120996519" "subst" "0" "03611" "TECTA_000216" "g.120996519A>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.121125810A>G" "" "VUS" "ACMG" "0000712673" "11" "50" "11" "121008539" "121008539" "subst" "0" "03980" "TECTA_000217" "g.121008539C>G" "" "Doucette 2021, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "" "0000723272" "0" "50" "11" "120983883" "120983883" "subst" "0" "02327" "TECTA_000218" "g.120983883G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723273" "0" "50" "11" "120984338" "120984338" "subst" "0.000434663" "01943" "TECTA_000167" "g.120984338A>G" "" "" "" "TECTA(NM_005422.2):c.701A>G (p.Q234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723274" "0" "50" "11" "121031114" "121031114" "subst" "0" "01943" "TECTA_000219" "g.121031114A>G" "" "" "" "TECTA(NM_005422.2):c.4960A>G (p.N1654D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723275" "0" "70" "11" "121038773" "121038773" "subst" "4.06114E-6" "01943" "TECTA_000015" "g.121038773C>T" "" "" "" "TECTA(NM_005422.2):c.5597C>T (p.T1866M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723276" "0" "30" "11" "121039491" "121039491" "subst" "8.12229E-6" "02327" "TECTA_000220" "g.121039491G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723277" "0" "50" "11" "121059858" "121059858" "subst" "0" "02327" "TECTA_000221" "g.121059858G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000760942" "0" "50" "11" "120996248" "120996248" "subst" "0" "03779" "TECTA_000222" "g.120996248A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000763452" "0" "50" "11" "121000551" "121000551" "subst" "4.06075E-6" "02404" "TECTA_000223" "g.121000551G>A" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Unknown" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000804938" "0" "30" "11" "120976565" "120976565" "subst" "0.000455014" "01943" "TECTA_000224" "g.120976565A>T" "" "" "" "TECTA(NM_005422.2):c.90A>T (p.P30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804939" "0" "50" "11" "120983788" "120983788" "subst" "2.84377E-5" "02327" "TECTA_000225" "g.120983788C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804940" "0" "50" "11" "120989309" "120989309" "subst" "0.000174626" "01943" "TECTA_000226" "g.120989309G>T" "" "" "" "TECTA(NM_005422.2):c.1085G>T (p.S362I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804941" "0" "50" "11" "120996189" "120996189" "subst" "0" "01943" "TECTA_000227" "g.120996189G>A" "" "" "" "TECTA(NM_005422.2):c.1382G>A (p.C461Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804942" "0" "30" "11" "121000397" "121000397" "subst" "0.00141734" "01943" "TECTA_000228" "g.121000397G>A" "" "" "" "TECTA(NM_005422.2):c.2418G>A (p.L806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804943" "0" "50" "11" "121000704" "121000704" "subst" "0.000165459" "01943" "TECTA_000229" "g.121000704C>T" "" "" "" "TECTA(NM_005422.2):c.2725C>T (p.R909C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804944" "0" "50" "11" "121008231" "121008231" "subst" "2.03216E-5" "02327" "TECTA_000230" "g.121008231G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804945" "0" "50" "11" "121037320" "121037320" "subst" "0" "02327" "TECTA_000192" "g.121037320G>A" "" "" "" "TECTA(NM_005422.2):c.5417G>A (p.C1806Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804946" "0" "50" "11" "121058594" "121058594" "subst" "0" "01943" "TECTA_000231" "g.121058594T>C" "" "" "" "TECTA(NM_005422.2):c.6053T>C (p.L2018P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804947" "0" "50" "11" "121058675" "121058675" "subst" "0" "02327" "TECTA_000232" "g.121058675G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804948" "0" "50" "11" "121061448" "121061448" "subst" "2.031E-5" "01943" "TECTA_000233" "g.121061448C>A" "" "" "" "TECTA(NM_005422.2):c.6401C>A (p.T2134K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000826494" "0" "90" "11" "121036097" "121036100" "del" "0" "00000" "TECTA_000234" "g.121036097_121036100delGTGA" "" "{PMID:Fuster-Garcia-2019:31725169}" "" "c.5383+5_5383+8delGTGA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000827952" "0" "50" "11" "121037446" "121037446" "subst" "0" "03779" "TECTA_000235" "g.121037446T>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000837150" "3" "70" "11" "120983832" "120983832" "del" "0" "00000" "TECTA_000236" "g.120983832del" "" "{PMID:Mei 2021:33976695}" "" "536delC" "" "Germline" "yes" "" "0" "" "" "g.121113123del" "" "likely pathogenic (recessive)" "ACMG" "0000839533" "0" "50" "11" "121023761" "121023761" "subst" "0" "03779" "TECTA_000237" "g.121023761G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000840721" "0" "90" "11" "121038844" "121038844" "subst" "0" "03779" "TECTA_000012" "g.121038844C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs121909063" "0" "" "" "" "" "pathogenic" "" "0000842616" "0" "70" "11" "121038773" "121038773" "subst" "4.06114E-6" "03779" "TECTA_000015" "g.121038773C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs140236996" "0" "" "" "" "" "likely pathogenic" "" "0000852789" "0" "30" "11" "120983864" "120983864" "subst" "4.06266E-5" "01943" "TECTA_000238" "g.120983864G>A" "" "" "" "TECTA(NM_005422.2):c.570G>A (p.T190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852790" "0" "50" "11" "121000537" "121000537" "subst" "8.12117E-6" "02327" "TECTA_000239" "g.121000537A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852791" "0" "50" "11" "121037443" "121037443" "subst" "0" "02327" "TECTA_000241" "g.121037443C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862342" "0" "50" "11" "121000716" "121000716" "subst" "5.34632E-5" "02327" "TECTA_000240" "g.121000716G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862343" "0" "50" "11" "121008311" "121008311" "subst" "1.62565E-5" "01804" "TECTA_000092" "g.121008311G>C" "" "" "" "TECTA(NM_005422.2):c.3123G>C (p.(Glu1041Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862344" "0" "50" "11" "121038845" "121038845" "subst" "2.03054E-5" "02327" "TECTA_000193" "g.121038845G>A" "" "" "" "TECTA(NM_005422.2):c.5669G>A (p.R1890H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871766" "0" "50" "11" "121058569" "121058569" "subst" "0" "03779" "TECTA_000242" "g.121058569G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000881234" "0" "90" "11" "121016463" "121016463" "subst" "0.000316723" "02300" "TECTA_000040" "g.121016463C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PP2, PP3, PP4, PP5" "Germline/De novo (untested)" "" "rs138768918" "0" "" "" "g.121145754C>T" "" "pathogenic (dominant)" "ACMG" "0000889667" "0" "90" "11" "120998754" "120998754" "subst" "0" "02327" "TECTA_000243" "g.120998754T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889669" "0" "50" "11" "121000806" "121000806" "subst" "0.000183165" "02327" "TECTA_000245" "g.121000806C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889670" "0" "50" "11" "121008252" "121008252" "subst" "9.34374E-5" "02327" "TECTA_000246" "g.121008252G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889671" "0" "50" "11" "121039453" "121039453" "subst" "2.84271E-5" "02327" "TECTA_000102" "g.121039453G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889672" "0" "50" "11" "121058703" "121058703" "subst" "0.000353667" "02327" "TECTA_000247" "g.121058703C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913521" "0" "30" "11" "121000879" "121000879" "subst" "5.90872E-5" "02327" "TECTA_000248" "g.121000879C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913522" "0" "50" "11" "121058608" "121058608" "subst" "0" "02327" "TECTA_000249" "g.121058608C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921779" "0" "50" "11" "121039514" "121039514" "subst" "0" "03779" "TECTA_000250" "g.121039514A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000925334" "0" "50" "11" "121008286" "121008286" "subst" "3.25087E-5" "02327" "TECTA_000251" "g.121008286G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925335" "0" "50" "11" "121031002" "121031002" "subst" "2.03037E-5" "02327" "TECTA_000252" "g.121031002C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925336" "0" "50" "11" "121060517" "121060517" "subst" "0" "02327" "TECTA_000253" "g.121060517A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929813" "0" "50" "11" "120989119" "120989119" "subst" "0" "02327" "TECTA_000254" "g.120989119T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929814" "0" "50" "11" "121058611" "121058611" "subst" "1.21824E-5" "02327" "TECTA_000255" "g.121058611G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944224" "3" "90" "11" "120989064" "120989065" "ins" "0" "00006" "TECTA_000257" "g.120989064_120989065insT" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.121118355_121118356insT" "" "pathogenic (recessive)" "ACMG" "0000944225" "3" "90" "11" "120996054" "120996055" "del" "0" "00006" "TECTA_000259" "g.120996054_120996055del" "" "{PMID:Richard 2019: 30303587}" "" "1247_1248delGG" "" "Germline" "" "" "0" "" "" "g.121125345_121125346del" "" "pathogenic (recessive)" "ACMG" "0000944226" "3" "70" "11" "120996581" "120996581" "subst" "0" "00006" "TECTA_000261" "g.120996581G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.121125872G>A" "" "likely pathogenic (recessive)" "ACMG" "0000944227" "21" "90" "11" "121000715" "121000715" "subst" "0" "00006" "TECTA_000264" "g.121000715C>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.121130006C>A" "" "pathogenic (recessive)" "ACMG" "0000944294" "11" "90" "11" "121058708" "121058708" "subst" "0" "00006" "TECTA_000265" "g.121058708G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.121187999G>A" "" "pathogenic (recessive)" "ACMG" "0000944347" "0" "70" "11" "120996183" "120996183" "subst" "0" "00006" "TECTA_000260" "g.120996183G>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.121125474G>T" "" "likely pathogenic (dominant)" "" "0000944348" "0" "70" "11" "120998637" "120998637" "subst" "0" "00006" "TECTA_000262" "g.120998637G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.121127928G>A" "" "likely pathogenic (dominant)" "" "0000944349" "0" "70" "11" "121000649" "121000650" "del" "0" "00006" "TECTA_000263" "g.121000649_121000650del" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.121129940_121129941del" "" "likely pathogenic (dominant)" "" "0000944378" "0" "70" "11" "120989131" "120989131" "subst" "4.46719E-5" "00006" "TECTA_000258" "g.120989131G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.121118422G>A" "" "likely pathogenic (dominant)" "" "0000944514" "3" "90" "11" "120973440" "120973440" "subst" "0" "00006" "TECTA_000256" "g.120973440T>C" "" "{PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.121102731T>C" "" "pathogenic (recessive)" "" "0000954954" "0" "70" "11" "121039540" "121039540" "subst" "0" "03779" "TECTA_000266" "g.121039540G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000966210" "0" "70" "11" "121037439" "121037439" "dup" "0" "02327" "TECTA_000267" "g.121037439dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000971599" "3" "70" "11" "121061505" "121061505" "subst" "0.00268169" "00006" "TECTA_000268" "g.121061505C>T" "" "{PMID:Yazdani 2020:32280589}" "" "" "" "Germline" "" "" "0" "" "" "g.121190796C>T" "" "VUS" "" "0000971604" "3" "70" "11" "121061505" "121061505" "subst" "0.00268169" "00006" "TECTA_000268" "g.121061505C>T" "" "{PMID:Yazdani 2020:32280589}" "" "" "" "Germline" "" "" "0" "" "" "g.121190796C>T" "" "VUS" "" "0000979408" "0" "70" "11" "121030864" "121030864" "dup" "0" "01804" "TECTA_000269" "g.121030864dup" "" "" "" "TECTA(NM_005422.4):c.4710dup (p.(Val1571CysfsTer15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998822" "0" "50" "11" "121028833" "121028833" "subst" "0" "01804" "TECTA_000270" "g.121028833A>G" "" "" "" "TECTA(NM_005422.2):c.4589A>G (p.(Asn1530Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025923" "0" "50" "11" "120998715" "120998715" "subst" "0" "02327" "TECTA_000271" "g.120998715T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038286" "0" "50" "11" "120989030" "120989030" "subst" "3.65598E-5" "02325" "TECTA_000272" "g.120989030G>A" "" "" "" "TECTA(NM_005422.4):c.806G>A (p.R269Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038287" "0" "30" "11" "120998747" "120998747" "subst" "0.00172307" "02325" "TECTA_000108" "g.120998747C>G" "" "" "" "TECTA(NM_005422.2):c.2061C>G (p.N687K), TECTA(NM_005422.4):c.2061C>G (p.N687K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038288" "0" "50" "11" "121016263" "121016263" "subst" "0" "01804" "TECTA_000273" "g.121016263G>A" "" "" "" "TECTA(NM_005422.4):c.3544-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038289" "0" "50" "11" "121016574" "121016574" "subst" "0" "02327" "TECTA_000274" "g.121016574G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038290" "0" "50" "11" "121016577" "121016577" "subst" "2.03047E-5" "02327" "TECTA_000275" "g.121016577C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044876" "1" "90" "11" "121036081" "121036081" "subst" "8.90578E-5" "00006" "TECTA_000042" "g.121036081C>G" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.121165372C>G" "" "pathogenic" "" "0001044877" "1" "90" "11" "121037374" "121037374" "subst" "4.06101E-5" "00006" "TECTA_000003" "g.121037374G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.121166665G>A" "" "pathogenic" "" "0001044878" "1" "90" "11" "121058603" "121058603" "subst" "4.06081E-6" "00006" "TECTA_000009" "g.121058603G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.121187894G>A" "" "pathogenic" "" "0001046291" "0" "50" "11" "121023647" "121023647" "subst" "0.000374407" "02327" "TECTA_000215" "g.121023647G>A" "" "" "" "TECTA(NM_005422.2):c.4163G>A (p.R1388H)" "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 TECTA ## Count = 324 "{{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}}" "0000079679" "00020958" "90" "2428" "0" "2428" "0" "c.2428C>T" "r.(?)" "p.(Arg810*)" "9" "0000079680" "00020958" "70" "3123" "0" "3123" "0" "c.3123G>C" "r.(?)" "p.(Glu1041Asp)" "10" "0000089791" "00020958" "90" "6017" "0" "6017" "0" "c.6017A>G" "r.(?)" "p.(Asp2006Gly)" "20" "0000089986" "00020958" "50" "122" "0" "122" "0" "c.122T>A" "r.(?)" "p.(Val41Glu)" "1" "0000089988" "00020958" "50" "3940" "0" "3940" "0" "c.3940T>A" "r.(?)" "p.(Cys1314Ser)" "" "0000089989" "00020958" "90" "4116" "0" "4116" "0" "c.4116C>A" "r.(?)" "p.(Cys1372*)" "12" "0000089990" "00020958" "70" "2657" "0" "2657" "0" "c.2657A>G" "r.(?)" "p.(Asn886Ser)" "9" "0000089991" "00020958" "50" "5810" "0" "5810" "0" "c.5810A>G" "r.(?)" "p.(Tyr1937Cys)" "" "0000089992" "00020958" "30" "5849" "0" "5851" "0" "c.5849_5851del" "r.(?)" "p.(Glu1950del)" "19" "0000089993" "00020958" "70" "2657" "0" "2657" "0" "c.2657A>G" "r.(?)" "p.(Asn886Ser)" "9" "0000091238" "00020958" "90" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "18" "0000091240" "00020958" "90" "2887" "0" "2887" "0" "c.2887G>A" "r.(?)" "p.(Ala963Thr)" "9" "0000128958" "00020958" "70" "6002" "0" "6002" "0" "c.6002G>T" "r.(?)" "p.(Cys2001Phe)" "" "0000128969" "00020958" "70" "5794" "0" "5794" "0" "c.5794A>C" "r.(?)" "p.(Thr1932Pro)" "" "0000128973" "00020958" "70" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "18" "0000129186" "00020958" "50" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Glu710Lys)" "" "0000129190" "00020958" "50" "5818" "0" "5818" "0" "c.5818G>A" "r.(?)" "p.(Ala1940Thr)" "" "0000130041" "00020958" "70" "4690" "-1" "4690" "-1" "c.4690-1G>A" "r.spl?" "p.?" "" "0000248634" "00020958" "10" "1485" "0" "1485" "0" "c.1485A>G" "r.(?)" "p.(Ala495=)" "" "0000254654" "00020958" "30" "4317" "0" "4317" "0" "c.4317A>C" "r.(?)" "p.(Leu1439=)" "" "0000311777" "00020958" "10" "2256" "0" "2256" "0" "c.2256C>T" "r.(?)" "p.(Ile752=)" "" "0000311778" "00020958" "10" "2805" "0" "2805" "0" "c.2805T>C" "r.(?)" "p.(Tyr935=)" "" "0000311779" "00020958" "10" "5171" "0" "5171" "0" "c.5171G>A" "r.(?)" "p.(Ser1724Asn)" "" "0000311780" "00020958" "10" "5634" "0" "5634" "0" "c.5634C>T" "r.(?)" "p.(Ser1878=)" "" "0000316434" "00020958" "30" "2061" "0" "2061" "0" "c.2061C>G" "r.(?)" "p.(Asn687Lys)" "" "0000316435" "00020958" "30" "2781" "0" "2781" "0" "c.2781T>C" "r.(?)" "p.(His927=)" "" "0000316436" "00020958" "50" "2809" "0" "2809" "0" "c.2809C>T" "r.(?)" "p.(Arg937Cys)" "" "0000316437" "00020958" "50" "2941" "0" "2941" "0" "c.2941C>T" "r.(?)" "p.(Pro981Ser)" "" "0000316438" "00020958" "30" "33" "0" "33" "0" "c.33C>A" "r.(?)" "p.(Val11=)" "" "0000316439" "00020958" "50" "5131" "0" "5131" "0" "c.5131C>T" "r.(?)" "p.(Leu1711Phe)" "" "0000316440" "00020958" "50" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Leu180Phe)" "" "0000316441" "00020958" "30" "5836" "0" "5836" "0" "c.5836T>C" "r.(?)" "p.(Tyr1946His)" "" "0000316442" "00020958" "50" "6162" "1" "6162" "1" "c.6162+1G>A" "r.spl?" "p.?" "" "0000316443" "00020958" "30" "6428" "0" "6428" "0" "c.6428C>T" "r.(?)" "p.(Ser2143Leu)" "" "0000316444" "00020958" "30" "684" "0" "684" "0" "c.684C>G" "r.(?)" "p.(Pro228=)" "" "0000336853" "00020958" "10" "-1214" "0" "-1214" "0" "c.-1214A>G" "r.(?)" "p.(=)" "" "0000336854" "00020958" "10" "-1263" "0" "-1263" "0" "c.-1263T>C" "r.(?)" "p.(=)" "" "0000336862" "00020958" "10" "5383" "3" "5383" "3" "c.5383+3G>A" "r.spl?" "p.?" "" "0000336863" "00020958" "10" "624" "11" "624" "11" "c.624+11C>G" "r.(=)" "p.(=)" "" "0000337047" "00020958" "10" "487" "-19" "487" "-19" "c.487-19G>A" "r.(=)" "p.(=)" "" "0000337048" "00020958" "70" "5383" "5" "5383" "5" "c.5383+5G>A" "r.spl?" "p.?" "" "0000339200" "00020958" "30" "1794" "0" "1794" "0" "c.1794G>C" "r.(?)" "p.(Pro598=)" "" "0000339330" "00020958" "10" "3012" "0" "3012" "0" "c.3012C>G" "r.(?)" "p.(Thr1004=)" "" "0000339331" "00020958" "10" "4422" "0" "4422" "0" "c.4422C>T" "r.(?)" "p.(Asn1474=)" "" "0000339332" "00020958" "10" "5733" "0" "5733" "0" "c.5733T>G" "r.(?)" "p.(Val1911=)" "" "0000340777" "00020958" "50" "4965" "0" "4965" "0" "c.4965C>T" "r.(?)" "p.(Gly1655=)" "" "0000341048" "00020958" "30" "33" "0" "33" "0" "c.33C>A" "r.(?)" "p.(Val11=)" "" "0000341471" "00020958" "10" "1485" "0" "1485" "0" "c.1485A>G" "r.(?)" "p.(Ala495=)" "" "0000341830" "00020958" "50" "3851" "0" "3851" "0" "c.3851G>A" "r.(?)" "p.(Arg1284His)" "" "0000342144" "00020958" "70" "5668" "0" "5668" "0" "c.5668C>T" "r.(?)" "p.(Arg1890Cys)" "" "0000342196" "00020958" "90" "6062" "0" "6062" "0" "c.6062G>A" "r.(?)" "p.(Arg2021His)" "" "0000342757" "00020958" "10" "1111" "0" "1111" "0" "c.1111A>G" "r.(?)" "p.(Arg371Gly)" "" "0000343289" "00020958" "50" "2126" "0" "2126" "0" "c.2126G>A" "r.(?)" "p.(Arg709Gln)" "" "0000343532" "00020958" "30" "2923" "0" "2923" "0" "c.2923C>T" "r.(?)" "p.(Arg975Trp)" "" "0000343815" "00020958" "30" "2061" "0" "2061" "0" "c.2061C>G" "r.(?)" "p.(Asn687Lys)" "" "0000343840" "00020958" "50" "2657" "0" "2657" "0" "c.2657A>G" "r.(?)" "p.(Asn886Ser)" "" "0000343882" "00020958" "50" "3406" "0" "3406" "0" "c.3406G>C" "r.(?)" "p.(Asp1136His)" "" "0000344224" "00020958" "70" "3089" "0" "3089" "0" "c.3089G>C" "r.(?)" "p.(Cys1030Ser)" "" "0000344255" "00020958" "70" "3854" "0" "3857" "0" "c.3854_3857delinsTTCT" "r.(?)" "p.(Cys1285_Pro1286delinsPheLeu)" "" "0000344267" "00020958" "90" "4116" "0" "4116" "0" "c.4116C>A" "r.(?)" "p.(Cys1372Ter)" "" "0000344302" "00020958" "90" "6002" "0" "6002" "0" "c.6002G>T" "r.(?)" "p.(Cys2001Phe)" "" "0000344433" "00020958" "50" "1867" "0" "1867" "0" "c.1867T>C" "r.(?)" "p.(Cys623Arg)" "" "0000344637" "00020958" "10" "56" "0" "56" "0" "c.56A>G" "r.(?)" "p.(Gln19Arg)" "" "0000346307" "00020958" "50" "2593" "0" "2593" "0" "c.2593G>A" "r.(?)" "p.(Gly865Ser)" "" "0000346540" "00020958" "50" "2967" "0" "2967" "0" "c.2967C>A" "r.(?)" "p.(His989Gln)" "" "0000346588" "00020958" "50" "4645" "0" "4645" "0" "c.4645A>G" "r.(?)" "p.(Ile1549Val)" "" "0000346797" "00020958" "10" "2256" "0" "2256" "0" "c.2256C>T" "r.(?)" "p.(Ile752=)" "" "0000346897" "00020958" "50" "4315" "0" "4315" "0" "c.4315C>A" "r.(?)" "p.(Leu1439Ile)" "" "0000347136" "00020958" "50" "1172" "0" "1172" "0" "c.1172T>C" "r.(?)" "p.(Leu391Pro)" "" "0000347180" "00020958" "50" "1379" "0" "1379" "0" "c.1379T>C" "r.(?)" "p.(Leu460Pro)" "" "0000347639" "00020958" "50" "2266" "0" "2266" "0" "c.2266A>G" "r.(?)" "p.(Lys756Glu)" "" "0000348167" "00020958" "30" "3743" "0" "3743" "0" "c.3743C>T" "r.(?)" "p.(Pro1248Leu)" "" "0000348769" "00020958" "30" "5012" "0" "5012" "0" "c.5012C>T" "r.(?)" "p.(Ser1671Leu)" "" "0000348778" "00020958" "10" "5171" "0" "5171" "0" "c.5171G>A" "r.(?)" "p.(Ser1724Asn)" "" "0000348799" "00020958" "10" "5634" "0" "5634" "0" "c.5634C>T" "r.(?)" "p.(Ser1878=)" "" "0000349058" "00020958" "50" "1502" "0" "1502" "0" "c.1502C>T" "r.(?)" "p.(Ser501Phe)" "" "0000349278" "00020958" "10" "4098" "0" "4098" "0" "c.4098G>A" "r.(?)" "p.(Thr1366=)" "" "0000349296" "00020958" "50" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Thr153Met)" "" "0000349332" "00020958" "90" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "" "0000349514" "00020958" "50" "1291" "0" "1291" "0" "c.1291A>T" "r.(?)" "p.(Thr431Ser)" "" "0000349566" "00020958" "30" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Thr562Met)" "" "0000349642" "00020958" "50" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Thr83Met)" "" "0000349968" "00020958" "50" "5809" "0" "5809" "0" "c.5809T>C" "r.(?)" "p.(Tyr1937His)" "" "0000350218" "00020958" "10" "2805" "0" "2805" "0" "c.2805T>C" "r.(?)" "p.(Tyr935=)" "" "0000350316" "00020958" "30" "4633" "0" "4633" "0" "c.4633G>A" "r.(?)" "p.(Val1545Ile)" "" "0000350692" "00020958" "10" "2795" "0" "2795" "0" "c.2795T>C" "r.(?)" "p.(Val932Ala)" "" "0000350794" "00020958" "90" "6162" "1" "6162" "1" "c.6162+1G>A" "r.spl?" "p.?" "" "0000350861" "00020958" "10" "4105" "13" "4105" "13" "c.4105+13C>T" "r.(=)" "p.(=)" "" "0000367113" "00020958" "55" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Thr83Met)" "3" "0000367114" "00020958" "99" "365" "0" "365" "0" "c.365del" "r.(?)" "p.(Leu122*)" "3" "0000367115" "00020958" "99" "473" "0" "473" "0" "c.473del" "r.(?)" "p.(Ser158Thrfs*6)" "3" "0000367116" "00020958" "95" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Asp197Asn)" "4" "0000367117" "00020958" "95" "632" "0" "632" "0" "c.632T>C" "r.(?)" "p.(Phe211Ser)" "5" "0000367118" "00020958" "99" "651" "0" "651" "0" "c.651dup" "r.(?)" "p.(Asn218Glnfs*31)" "5" "0000367119" "00020958" "99" "656" "0" "659" "0" "c.656_659del" "r.(?)" "p.(Phe219Serfs*12)" "5" "0000367120" "00020958" "75" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Thr237Ile)" "5" "0000367121" "00020958" "75" "950" "0" "950" "0" "c.950T>A" "r.(?)" "p.(Val317Glu)" "6" "0000367122" "00020958" "99" "990" "0" "990" "0" "c.990C>A" "r.(?)" "p.(Tyr330*)" "6" "0000367123" "00020958" "95" "1084" "0" "1084" "0" "c.1084A>T" "r.(?)" "p.(Ser362Cys)" "6" "0000367124" "00020958" "55" "1124" "0" "1124" "0" "c.1124del" "r.(?)" "p.(Val375Alafs*4)" "6" "0000367125" "00020958" "95" "1395" "0" "1395" "0" "c.1395T>G" "r.(?)" "p.(Asn465Lys)" "7" "0000367126" "00020958" "95" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Thr562Met)" "7" "0000367127" "00020958" "95" "2444" "0" "2444" "0" "c.2444C>T" "r.(?)" "p.(Thr815Met)" "9" "0000367128" "00020958" "75" "2592" "0" "2592" "0" "c.2592C>A" "r.(?)" "p.(Asn864Lys)" "9" "0000367129" "00020958" "95" "2657" "0" "2657" "0" "c.2657A>G" "r.(?)" "p.(Asn886Ser)" "9" "0000367130" "00020958" "75" "2657" "0" "2657" "0" "c.2657A>G" "r.(?)" "p.(Asn886Ser)" "9" "0000367131" "00020958" "99" "2941" "1" "2941" "1" "c.2941+1G>A" "r.spl" "p.?" "9i" "0000367132" "00020958" "99" "2942" "-7209" "3543" "7532" "c.2942-7209_3543+7532del" "r.?" "p.?" "9i_10i" "0000367133" "00020958" "95" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Cys1036Tyr)" "10" "0000367134" "00020958" "95" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Cys1036Tyr)" "10" "0000367135" "00020958" "95" "3170" "0" "3170" "0" "c.3170T>A" "r.(?)" "p.(Cys1057Ser)" "10" "0000367136" "00020958" "95" "3170" "0" "3170" "0" "c.3170T>A" "r.(?)" "p.(Cys1057Ser)" "10" "0000367137" "00020958" "33" "3239" "0" "3239" "0" "c.3239A>T" "r.(?)" "p.(Asp1080Val)" "10" "0000367138" "00020958" "95" "3293" "0" "3293" "0" "c.3293C>T" "r.(?)" "p.(Ala1098Val)" "10" "0000367139" "00020958" "95" "3406" "0" "3406" "0" "c.3406G>C" "r.(?)" "p.(Asp1136His)" "10" "0000367140" "00020958" "33" "3456" "0" "3456" "0" "c.3456G>A" "r.(?)" "p.(=)" "10" "0000367141" "00020958" "95" "3743" "0" "3743" "0" "c.3743C>T" "r.(?)" "p.(Pro1248Leu)" "11" "0000367142" "00020958" "75" "3743" "0" "3743" "0" "c.3743C>T" "r.(?)" "p.(Pro1248Leu)" "11" "0000367143" "00020958" "75" "3854" "0" "3854" "0" "c.3854G>A" "r.(?)" "p.(Cys1285Tyr)" "11" "0000367144" "00020958" "55" "4055" "0" "4055" "0" "c.4055G>A" "r.(?)" "p.(Cys1352Tyr)" "11" "0000367145" "00020958" "35" "4098" "0" "4098" "0" "c.4098G>A" "r.(?)" "p.(=)" "11" "0000367146" "00020958" "99" "4198" "0" "4198" "0" "c.4198C>T" "r.(?)" "p.(His1400Tyr)" "12" "0000367147" "00020958" "99" "4198" "0" "4198" "0" "c.4198C>T" "r.(?)" "p.(His1400Tyr)" "12" "0000367148" "00020958" "99" "4198" "0" "4198" "0" "c.4198C>T" "r.(?)" "p.(His1400Tyr)" "12" "0000367149" "00020958" "99" "4198" "0" "4198" "0" "c.4198C>T" "r.(?)" "p.(His1400Tyr)" "12" "0000367150" "00020958" "95" "4525" "0" "4525" "0" "c.4525T>G" "r.(?)" "p.(Cys1509Gly)" "13" "0000367151" "00020958" "95" "4549" "0" "4549" "0" "c.4549T>C" "r.(?)" "p.(Cys1517Arg)" "13" "0000367152" "00020958" "55" "4856" "0" "4856" "0" "c.4856G>C" "r.(?)" "p.(Cys1619Ser)" "14" "0000367153" "00020958" "95" "5072" "0" "5072" "0" "c.5072G>T" "r.(?)" "p.(Cys1691Phe)" "15" "0000367154" "00020958" "99" "5210" "0" "5210" "0" "c.5210A>G" "r.(?)" "p.(Tyr1737Cys)" "15" "0000367155" "00020958" "99" "5211" "0" "5211" "0" "c.5211C>A" "r.(?)" "p.(Tyr1737*)" "15" "0000367156" "00020958" "99" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Arg1773*)" "16" "0000367157" "00020958" "99" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Arg1773*)" "16" "0000367158" "00020958" "99" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Arg1773*)" "16" "0000367159" "00020958" "99" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Arg1773*)" "16" "0000367160" "00020958" "95" "5331" "0" "5331" "0" "c.5331G>A" "r.(?)" "p.(=)" "16" "0000367161" "00020958" "95" "5331" "0" "5331" "0" "c.5331G>A" "r.(?)" "p.(=)" "16" "0000367162" "00020958" "95" "5331" "0" "5331" "0" "c.5331G>A" "r.(?)" "p.(=)" "16" "0000367163" "00020958" "95" "5331" "0" "5331" "0" "c.5331G>A" "r.(?)" "p.(=)" "16" "0000367164" "00020958" "95" "5372" "0" "5372" "0" "c.5372C>G" "r.(?)" "p.(Pro1791Arg)" "16" "0000367165" "00020958" "75" "5383" "2" "5383" "2" "c.5383+2T>G" "r.spl" "p.?" "16i" "0000367166" "00020958" "55" "5383" "5" "5383" "8" "c.5383+5_5383+8del" "r.spl" "p.?" "16i" "0000367167" "00020958" "99" "5383" "5" "5383" "8" "c.5383+5_5383+8del" "r.spl" "p.?" "16i" "0000367168" "00020958" "55" "5458" "0" "5458" "0" "c.5458C>T" "r.(?)" "p.(Leu1820Phe)" "17" "0000367169" "00020958" "55" "5471" "0" "5471" "0" "c.5471G>A" "r.(?)" "p.(Gly1824Asp)" "17" "0000367170" "00020958" "75" "5509" "0" "5509" "0" "c.5509T>C" "r.(?)" "p.(Cys1837Arg)" "17" "0000367171" "00020958" "75" "5509" "0" "5509" "0" "c.5509T>G" "r.(?)" "p.(Cys1837Gly)" "17" "0000367172" "00020958" "75" "5509" "0" "5509" "0" "c.5509T>G" "r.(?)" "p.(Cys1837Gly)" "17" "0000367173" "00020958" "75" "5509" "0" "5509" "0" "c.5509T>G" "r.(?)" "p.(Cys1837Gly)" "17" "0000367174" "00020958" "95" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "18" "0000367175" "00020958" "95" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "18" "0000367176" "00020958" "95" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "18" "0000367177" "00020958" "95" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "18" "0000367178" "00020958" "95" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "18" "0000367179" "00020958" "99" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "18" "0000367180" "00020958" "99" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "18" "0000367181" "00020958" "99" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "18" "0000367182" "00020958" "99" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "18" "0000367183" "00020958" "95" "5600" "0" "5600" "0" "c.5600A>G" "r.(?)" "p.(His1867Arg)" "18" "0000367184" "00020958" "95" "5609" "0" "5609" "0" "c.5609A>G" "r.(?)" "p.(Tyr1870Cys)" "18" "0000367185" "00020958" "15" "5636" "0" "5636" "0" "c.5636C>T" "r.(?)" "p.(Ala1879Val)" "18" "0000367186" "00020958" "95" "5668" "0" "5668" "0" "c.5668C>T" "r.(?)" "p.(Arg1890Cys)" "18" "0000367187" "00020958" "95" "5668" "0" "5668" "0" "c.5668C>T" "r.(?)" "p.(Arg1890Cys)" "18" "0000367188" "00020958" "95" "5668" "0" "5668" "0" "c.5668C>T" "r.(?)" "p.(Arg1890Cys)" "18" "0000367189" "00020958" "95" "5668" "0" "5668" "0" "c.5668C>T" "r.(?)" "p.(Arg1890Cys)" "18" "0000367190" "00020958" "95" "5692" "0" "5692" "0" "c.5692T>C" "r.(?)" "p.(Cys1898Arg)" "18" "0000367191" "00020958" "95" "5839" "0" "5839" "0" "c.5839C>T" "r.(?)" "p.(Arg1947Cys)" "19" "0000367192" "00020958" "99" "5945" "0" "5945" "0" "c.5945C>A" "r.(?)" "p.(Ala1982Asp)" "19" "0000367193" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367194" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367195" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367196" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367197" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367198" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367199" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367200" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367201" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367202" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367203" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367204" "00020958" "99" "5990" "0" "5990" "0" "c.5990T>C" "r.(?)" "p.(Ile1997Thr)" "19" "0000367205" "00020958" "95" "6026" "0" "6026" "0" "c.6026T>C" "r.(?)" "p.(Ile2009Thr)" "20" "0000367206" "00020958" "99" "6037" "0" "6037" "0" "c.6037del" "r.(?)" "p.(Glu2013Argfs*6)" "20" "0000367207" "00020958" "95" "6062" "0" "6062" "0" "c.6062G>A" "r.(?)" "p.(Arg2021His)" "20" "0000367208" "00020958" "95" "6162" "3" "6162" "4" "c.6162+3_6162+4insT" "r.spl?" "p.?" "20i" "0000367209" "00020958" "99" "6203" "0" "6218" "0" "c.6203_6218del" "r.(?)" "p.(Lys2068Argfs*38)" "21" "0000367210" "00020958" "75" "6236" "0" "6236" "0" "c.6236C>T" "r.(?)" "p.(Pro2079Leu)" "21" "0000542722" "00020958" "30" "199" "-3" "199" "-3" "c.199-3T>C" "r.spl?" "p.?" "" "0000542723" "00020958" "50" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Asp91Asn)" "" "0000542724" "00020958" "50" "335" "0" "335" "0" "c.335A>G" "r.(?)" "p.(Tyr112Cys)" "" "0000542725" "00020958" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Asp197Asn)" "" "0000542728" "00020958" "30" "714" "0" "714" "0" "c.714C>T" "r.(?)" "p.(Asn238=)" "" "0000542729" "00020958" "50" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Val378Met)" "" "0000542730" "00020958" "30" "1509" "0" "1509" "0" "c.1509C>T" "r.(?)" "p.(Cys503=)" "" "0000542732" "00020958" "50" "2113" "0" "2113" "0" "c.2113T>C" "r.(?)" "p.(Cys705Arg)" "" "0000542733" "00020958" "50" "2255" "0" "2255" "0" "c.2255T>C" "r.(?)" "p.(Ile752Thr)" "" "0000542735" "00020958" "50" "2780" "0" "2780" "0" "c.2780A>G" "r.(?)" "p.(His927Arg)" "" "0000542736" "00020958" "50" "3022" "0" "3027" "0" "c.3022_3027dup" "r.(?)" "p.(Ile1008_Cys1009dup)" "" "0000542737" "00020958" "50" "3395" "0" "3395" "0" "c.3395G>A" "r.(?)" "p.(Arg1132Lys)" "" "0000542738" "00020958" "50" "3406" "0" "3406" "0" "c.3406G>C" "r.(?)" "p.(Asp1136His)" "" "0000542739" "00020958" "50" "3556" "0" "3556" "0" "c.3556C>T" "r.(?)" "p.(Arg1186Trp)" "" "0000542740" "00020958" "50" "3743" "0" "3743" "0" "c.3743C>T" "r.(?)" "p.(Pro1248Leu)" "" "0000542741" "00020958" "10" "4011" "0" "4011" "0" "c.4011G>A" "r.(?)" "p.(Ala1337=)" "" "0000542742" "00020958" "30" "4020" "0" "4020" "0" "c.4020C>T" "r.(?)" "p.(Thr1340=)" "" "0000542743" "00020958" "10" "4074" "0" "4074" "0" "c.4074G>A" "r.(?)" "p.(Thr1358=)" "" "0000542744" "00020958" "50" "4079" "0" "4079" "0" "c.4079C>T" "r.(?)" "p.(Thr1360Ile)" "" "0000542745" "00020958" "90" "4085" "0" "4085" "0" "c.4085G>A" "r.(?)" "p.(Trp1362Ter)" "" "0000542746" "00020958" "50" "4441" "0" "4441" "0" "c.4441A>G" "r.(?)" "p.(Ser1481Gly)" "" "0000542747" "00020958" "90" "4495" "0" "4496" "0" "c.4495_4496del" "r.(?)" "p.(Asp1499ArgfsTer51)" "" "0000542748" "00020958" "50" "4522" "0" "4522" "0" "c.4522A>G" "r.(?)" "p.(Asn1508Asp)" "" "0000542749" "00020958" "50" "4551" "0" "4551" "0" "c.4551C>G" "r.(?)" "p.(Cys1517Trp)" "" "0000542750" "00020958" "90" "4601" "0" "4601" "0" "c.4601G>A" "r.(?)" "p.(Trp1534Ter)" "" "0000542751" "00020958" "30" "4633" "0" "4633" "0" "c.4633G>A" "r.(?)" "p.(Val1545Ile)" "" "0000542752" "00020958" "50" "4802" "0" "4802" "0" "c.4802A>G" "r.(?)" "p.(Asn1601Ser)" "" "0000542753" "00020958" "30" "5046" "0" "5046" "0" "c.5046C>T" "r.(?)" "p.(Ile1682=)" "" "0000542754" "00020958" "50" "5108" "0" "5108" "0" "c.5108C>T" "r.(?)" "p.(Pro1703Leu)" "" "0000542755" "00020958" "90" "5383" "5" "5383" "8" "c.5383+5_5383+8del" "r.spl?" "p.?" "" "0000542756" "00020958" "50" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Cys1806Tyr)" "" "0000542757" "00020958" "50" "5669" "0" "5669" "0" "c.5669G>A" "r.(?)" "p.(Arg1890His)" "" "0000542758" "00020958" "50" "5672" "0" "5672" "0" "c.5672C>T" "r.(?)" "p.(Thr1891Met)" "" "0000542759" "00020958" "50" "6059" "0" "6059" "0" "c.6059G>A" "r.(?)" "p.(Cys2020Tyr)" "" "0000613108" "00020958" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Ter)" "" "0000613109" "00020958" "50" "460" "0" "460" "0" "c.460T>C" "r.(?)" "p.(Phe154Leu)" "" "0000613110" "00020958" "50" "2945" "0" "2945" "0" "c.2945T>C" "r.(?)" "p.(Leu982Pro)" "" "0000613111" "00020958" "50" "3317" "0" "3317" "0" "c.3317G>A" "r.(?)" "p.(Gly1106Asp)" "" "0000613112" "00020958" "50" "3556" "0" "3556" "0" "c.3556C>T" "r.(?)" "p.(Arg1186Trp)" "" "0000613113" "00020958" "50" "4381" "0" "4381" "0" "c.4381C>G" "r.(?)" "p.(Pro1461Ala)" "" "0000613114" "00020958" "50" "5210" "0" "5210" "0" "c.5210A>G" "r.(?)" "p.(Tyr1737Cys)" "" "0000622577" "00020958" "30" "5754" "0" "5754" "0" "c.5754A>T" "r.(?)" "p.(Val1918=)" "" "0000631823" "00020958" "70" "2011" "0" "2011" "0" "c.2011T>C" "r.(?)" "p.(Cys671Arg)" "" "0000648125" "00020958" "50" "2444" "0" "2444" "0" "c.2444C>T" "r.(?)" "p.(Thr815Met)" "" "0000648126" "00020958" "90" "3169" "0" "3169" "0" "c.3169T>A" "r.(?)" "p.(Cys1057Ser)" "" "0000648127" "00020958" "50" "3406" "0" "3406" "0" "c.3406G>C" "r.(?)" "p.(Asp1136His)" "" "0000648128" "00020958" "30" "4315" "0" "4315" "0" "c.4315C>A" "r.(?)" "p.(Leu1439Ile)" "" "0000648129" "00020958" "30" "4422" "0" "4422" "0" "c.4422C>T" "r.(=)" "p.(=)" "" "0000648130" "00020958" "50" "5471" "0" "5471" "0" "c.5471G>A" "r.(?)" "p.(Gly1824Asp)" "" "0000656720" "00020958" "70" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Ser408Phe)" "" "0000656721" "00020958" "50" "3962" "0" "3962" "0" "c.3962C>T" "r.(?)" "p.(Thr1321Ile)" "" "0000656722" "00020958" "50" "5224" "0" "5224" "0" "c.5224C>T" "r.(?)" "p.(Arg1742Cys)" "" "0000656723" "00020958" "70" "5383" "5" "5383" "5" "c.5383+5G>A" "r.spl?" "p.?" "" "0000656724" "00020958" "50" "6034" "0" "6034" "0" "c.6034G>A" "r.(?)" "p.(Glu2012Lys)" "" "0000656725" "00020958" "50" "6133" "0" "6133" "0" "c.6133T>G" "r.(?)" "p.(Cys2045Gly)" "" "0000667180" "00020958" "70" "5383" "5" "5383" "8" "c.5383+5_5383+8del" "r.spl?" "p.?" "" "0000679083" "00020958" "50" "1651" "0" "1651" "0" "c.1651G>A" "r.(?)" "p.(Val551Met)" "" "0000679084" "00020958" "30" "1834" "0" "1834" "0" "c.1834G>A" "r.(?)" "p.(Asp612Asn)" "" "0000679085" "00020958" "30" "3492" "0" "3492" "0" "c.3492C>T" "r.(?)" "p.(Thr1164=)" "" "0000679086" "00020958" "30" "5160" "0" "5160" "0" "c.5160C>T" "r.(?)" "p.(Asp1720=)" "" "0000679087" "00020958" "70" "5915" "0" "5915" "0" "c.5915A>C" "r.(?)" "p.(His1972Pro)" "" "0000682859" "00020958" "50" "4067" "0" "4067" "0" "c.4067G>A" "r.(?)" "p.(Gly1356Glu)" "" "0000686162" "00020958" "90" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "" "0000690966" "00020958" "50" "4163" "0" "4163" "0" "c.4163G>A" "r.(?)" "p.(Arg1388His)" "" "0000712172" "00020958" "50" "1712" "0" "1712" "0" "c.1712A>G" "r.(?)" "p.(Tyr571Cys)" "" "0000712673" "00020958" "50" "3351" "0" "3351" "0" "c.3351C>G" "r.(?)" "p.(Asp1117Glu)" "" "0000723272" "00020958" "50" "589" "0" "589" "0" "c.589G>C" "r.(?)" "p.(Asp197His)" "" "0000723273" "00020958" "50" "701" "0" "701" "0" "c.701A>G" "r.(?)" "p.(Gln234Arg)" "" "0000723274" "00020958" "50" "4960" "0" "4960" "0" "c.4960A>G" "r.(?)" "p.(Asn1654Asp)" "" "0000723275" "00020958" "70" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "" "0000723276" "00020958" "30" "5856" "0" "5856" "0" "c.5856G>A" "r.(?)" "p.(Val1952=)" "" "0000723277" "00020958" "50" "6232" "0" "6232" "0" "c.6232G>A" "r.(?)" "p.(Gly2078Arg)" "" "0000760942" "00020958" "50" "1441" "0" "1441" "0" "c.1441A>G" "r.(?)" "p.(Met481Val)" "" "0000763452" "00020958" "50" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Asp858Asn)" "10" "0000804938" "00020958" "30" "90" "0" "90" "0" "c.90A>T" "r.(?)" "p.(Pro30=)" "" "0000804939" "00020958" "50" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Thr165Ile)" "" "0000804940" "00020958" "50" "1085" "0" "1085" "0" "c.1085G>T" "r.(?)" "p.(Ser362Ile)" "" "0000804941" "00020958" "50" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Cys461Tyr)" "" "0000804942" "00020958" "30" "2418" "0" "2418" "0" "c.2418G>A" "r.(?)" "p.(Leu806=)" "" "0000804943" "00020958" "50" "2725" "0" "2725" "0" "c.2725C>T" "r.(?)" "p.(Arg909Cys)" "" "0000804944" "00020958" "50" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Glu1015Lys)" "" "0000804945" "00020958" "50" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Cys1806Tyr)" "" "0000804946" "00020958" "50" "6053" "0" "6053" "0" "c.6053T>C" "r.(?)" "p.(Leu2018Pro)" "" "0000804947" "00020958" "50" "6134" "0" "6134" "0" "c.6134G>A" "r.(?)" "p.(Cys2045Tyr)" "" "0000804948" "00020958" "50" "6401" "0" "6401" "0" "c.6401C>A" "r.(?)" "p.(Thr2134Lys)" "" "0000826494" "00020958" "90" "5383" "5" "5383" "8" "c.5383+5_5383+8delGTGA" "r.(?)" "p.?" "17i" "0000827952" "00020958" "50" "5543" "0" "5543" "0" "c.5543T>G" "r.(?)" "p.(Phe1848Cys)" "" "0000837150" "00020958" "70" "538" "0" "538" "0" "c.538del" "r.(?)" "p.(Leu180Serfs*20)" "4" "0000839533" "00020958" "50" "4277" "0" "4277" "0" "c.4277G>T" "r.(?)" "p.(Gly1426Val)" "" "0000840721" "00020958" "90" "5668" "0" "5668" "0" "c.5668C>T" "r.(?)" "p.(Arg1890Cys)" "" "0000842616" "00020958" "70" "5597" "0" "5597" "0" "c.5597C>T" "r.(?)" "p.(Thr1866Met)" "" "0000852789" "00020958" "30" "570" "0" "570" "0" "c.570G>A" "r.(?)" "p.(Thr190=)" "" "0000852790" "00020958" "50" "2558" "0" "2558" "0" "c.2558A>G" "r.(?)" "p.(Asn853Ser)" "" "0000852791" "00020958" "50" "5540" "0" "5540" "0" "c.5540C>T" "r.(?)" "p.(Ser1847Phe)" "" "0000862342" "00020958" "50" "2737" "0" "2737" "0" "c.2737G>A" "r.(?)" "p.(Gly913Ser)" "" "0000862343" "00020958" "50" "3123" "0" "3123" "0" "c.3123G>C" "r.(?)" "p.(Glu1041Asp)" "" "0000862344" "00020958" "50" "5669" "0" "5669" "0" "c.5669G>A" "r.(?)" "p.(Arg1890His)" "" "0000871766" "00020958" "50" "6028" "0" "6028" "0" "c.6028G>A" "r.(?)" "p.(Gly2010Ser)" "" "0000881234" "00020958" "90" "3743" "0" "3743" "0" "c.3743C>T" "r.(?)" "p.(Pro1248Leu)" "" "0000889667" "00020958" "90" "2068" "0" "2068" "0" "c.2068T>A" "r.(?)" "p.(Cys690Ser)" "" "0000889669" "00020958" "50" "2827" "0" "2827" "0" "c.2827C>A" "r.(?)" "p.(Leu943Met)" "" "0000889670" "00020958" "50" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Gly1022Ser)" "" "0000889671" "00020958" "50" "5818" "0" "5818" "0" "c.5818G>A" "r.(?)" "p.(Ala1940Thr)" "" "0000889672" "00020958" "50" "6162" "0" "6162" "0" "c.6162C>T" "r.(?)" "p.(Ile2054=)" "" "0000913521" "00020958" "30" "2900" "0" "2900" "0" "c.2900C>T" "r.(?)" "p.(Ala967Val)" "" "0000913522" "00020958" "50" "6067" "0" "6067" "0" "c.6067C>G" "r.(?)" "p.(His2023Asp)" "" "0000921779" "00020958" "50" "5879" "0" "5879" "0" "c.5879A>G" "r.(?)" "p.(Tyr1960Cys)" "" "0000925334" "00020958" "50" "3098" "0" "3098" "0" "c.3098G>A" "r.(?)" "p.(Arg1033Gln)" "" "0000925335" "00020958" "50" "4848" "0" "4848" "0" "c.4848C>A" "r.(?)" "p.(Asn1616Lys)" "" "0000925336" "00020958" "50" "6295" "0" "6295" "0" "c.6295A>G" "r.(?)" "p.(Thr2099Ala)" "" "0000929813" "00020958" "50" "895" "0" "895" "0" "c.895T>C" "r.(?)" "p.(Cys299Arg)" "" "0000929814" "00020958" "50" "6070" "0" "6070" "0" "c.6070G>A" "r.(?)" "p.(Val2024Ile)" "" "0000944224" "00020958" "90" "840" "0" "841" "0" "c.840_841insT" "r.(?)" "p.(Val281CysfsTer11)" "" "0000944225" "00020958" "90" "1247" "0" "1248" "0" "c.1247_1248del" "r.(?)" "p.(Gly416AspfsTer24)" "" "0000944226" "00020958" "70" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Val592Met)" "" "0000944227" "00020958" "90" "2736" "0" "2736" "0" "c.2736C>A" "r.(?)" "p.(Cys912Ter)" "" "0000944294" "00020958" "90" "6162" "5" "6162" "5" "c.6162+5G>A" "r.spl" "p.?" "" "0000944347" "00020958" "70" "1376" "0" "1376" "0" "c.1376G>T" "r.(?)" "p.(Gly459Val)" "" "0000944348" "00020958" "70" "1951" "0" "1951" "0" "c.1951G>A" "r.(?)" "p.(Gly651Ser)" "" "0000944349" "00020958" "70" "2670" "0" "2671" "0" "c.2670_2671del" "r.(?)" "p.(Asp891ProfsTer8)" "" "0000944378" "00020958" "70" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Glu303Lys)" "" "0000944514" "00020958" "90" "64" "2" "64" "2" "c.64+2T>C" "r.spl" "p.?" "" "0000954954" "00020958" "70" "5905" "0" "5905" "0" "c.5905G>A" "r.(?)" "p.(Asp1969Asn)" "" "0000966210" "00020958" "70" "5536" "0" "5536" "0" "c.5536dup" "r.(?)" "p.(Ile1846Asnfs*26)" "" "0000971599" "00020958" "70" "6458" "0" "6458" "0" "c.6458C>T" "r.(?)" "p.(Thr2153Met)" "" "0000971604" "00020958" "70" "6458" "0" "6458" "0" "c.6458C>T" "r.(?)" "p.(Thr2153Met)" "" "0000979408" "00020958" "70" "4710" "0" "4710" "0" "c.4710dup" "r.(?)" "p.(Val1571Cysfs*15)" "" "0000998822" "00020958" "50" "4589" "0" "4589" "0" "c.4589A>G" "r.(?)" "p.(Asn1530Ser)" "" "0001025923" "00020958" "50" "2029" "0" "2029" "0" "c.2029T>G" "r.(?)" "p.(Cys677Gly)" "" "0001038286" "00020958" "50" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Arg269Gln)" "" "0001038287" "00020958" "30" "2061" "0" "2061" "0" "c.2061C>G" "r.(?)" "p.(Asn687Lys)" "" "0001038288" "00020958" "50" "3544" "-1" "3544" "-1" "c.3544-1G>A" "r.spl?" "p.?" "" "0001038289" "00020958" "50" "3854" "0" "3854" "0" "c.3854G>T" "r.(?)" "p.(Cys1285Phe)" "" "0001038290" "00020958" "50" "3857" "0" "3857" "0" "c.3857C>T" "r.(?)" "p.(Pro1286Leu)" "" "0001044876" "00020958" "90" "5372" "0" "5372" "0" "c.5372C>G" "r,(?)" "p.(Pro1791Arg)" "" "0001044877" "00020958" "90" "5471" "0" "5471" "0" "c.5471G>A" "r,(?)" "p.(Gly1824Asp)" "" "0001044878" "00020958" "90" "6062" "0" "6062" "0" "c.6062G>A" "r,(?)" "p.(Arg2021His)" "" "0001046291" "00020958" "50" "4163" "0" "4163" "0" "c.4163G>A" "r.(?)" "p.(Arg1388His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 147 "{{screeningid}}" "{{variantid}}" "0000050518" "0000079679" "0000050518" "0000079680" "0000058992" "0000089791" "0000059166" "0000089986" "0000059168" "0000089988" "0000059169" "0000089989" "0000059169" "0000089990" "0000059170" "0000089991" "0000059171" "0000089992" "0000059171" "0000089993" "0000060240" "0000091238" "0000060242" "0000091240" "0000080079" "0000128958" "0000080090" "0000128969" "0000080094" "0000128973" "0000080234" "0000129186" "0000080237" "0000129190" "0000080955" "0000130041" "0000164054" "0000367113" "0000164054" "0000367186" "0000164055" "0000367114" "0000164056" "0000367115" "0000164056" "0000367130" "0000164057" "0000367116" "0000164058" "0000367117" "0000164059" "0000367118" "0000164060" "0000367119" "0000164060" "0000367128" "0000164060" "0000367144" "0000164061" "0000367120" "0000164062" "0000367121" "0000164063" "0000367122" "0000164064" "0000367123" "0000164065" "0000367124" "0000164066" "0000367125" "0000164067" "0000367126" "0000164068" "0000367127" "0000164069" "0000367129" "0000164069" "0000367166" "0000164070" "0000367131" "0000164071" "0000367132" "0000164072" "0000367133" "0000164073" "0000367134" "0000164074" "0000367135" "0000164075" "0000367136" "0000164076" "0000367137" "0000164076" "0000367140" "0000164077" "0000367138" "0000164078" "0000367139" "0000164079" "0000367141" "0000164080" "0000367142" "0000164081" "0000367143" "0000164082" "0000367145" "0000164082" "0000367152" "0000164083" "0000367146" "0000164083" "0000367179" "0000164084" "0000367147" "0000164084" "0000367180" "0000164085" "0000367148" "0000164085" "0000367181" "0000164086" "0000367149" "0000164086" "0000367182" "0000164087" "0000367150" "0000164088" "0000367151" "0000164089" "0000367153" "0000164089" "0000367208" "0000164090" "0000367154" "0000164091" "0000367155" "0000164092" "0000367156" "0000164093" "0000367157" "0000164094" "0000367158" "0000164095" "0000367159" "0000164096" "0000367160" "0000164097" "0000367161" "0000164098" "0000367162" "0000164099" "0000367163" "0000164100" "0000367164" "0000164101" "0000367165" "0000164102" "0000367167" "0000164103" "0000367168" "0000164103" "0000367169" "0000164104" "0000367170" "0000164105" "0000367171" "0000164106" "0000367172" "0000164107" "0000367173" "0000164108" "0000367174" "0000164109" "0000367175" "0000164110" "0000367176" "0000164111" "0000367177" "0000164112" "0000367178" "0000164113" "0000367183" "0000164114" "0000367184" "0000164115" "0000367185" "0000164116" "0000367187" "0000164117" "0000367188" "0000164118" "0000367189" "0000164119" "0000367190" "0000164120" "0000367191" "0000164121" "0000367192" "0000164122" "0000367193" "0000164123" "0000367194" "0000164124" "0000367195" "0000164125" "0000367196" "0000164126" "0000367197" "0000164127" "0000367198" "0000164128" "0000367199" "0000164129" "0000367200" "0000164130" "0000367201" "0000164131" "0000367202" "0000164132" "0000367203" "0000164133" "0000367204" "0000164134" "0000367205" "0000164135" "0000367206" "0000164136" "0000367207" "0000164137" "0000367209" "0000164138" "0000367210" "0000277090" "0000667180" "0000277092" "0000631823" "0000291436" "0000648125" "0000291437" "0000648126" "0000291438" "0000648127" "0000291439" "0000648128" "0000291440" "0000648129" "0000291441" "0000648130" "0000308452" "0000682859" "0000311012" "0000686162" "0000328245" "0000712172" "0000328678" "0000712673" "0000363040" "0000763452" "0000395237" "0000826494" "0000402876" "0000837150" "0000420875" "0000881234" "0000442897" "0000944224" "0000442898" "0000944225" "0000442899" "0000944226" "0000442900" "0000944227" "0000442900" "0000944294" "0000442988" "0000944347" "0000442989" "0000944348" "0000442990" "0000944349" "0000443019" "0000944378" "0000443132" "0000944514" "0000449984" "0000971599" "0000449985" "0000971604" "0000467107" "0001044876" "0000467108" "0001044877" "0000467109" "0001044878"