### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYO6) # 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}}" "MYO6" "myosin VI" "6" "q14.1" "unknown" "NG_009934.2" "UD_132085423914" "" "https://www.LOVD.nl/MYO6" "Deafness Gene Mutation Database \r\nCCMHC Molecular Genetics Laboratory Mutation Database \r\nDeafness Variation Database \r\nMoBiDiC " "1" "7605" "4646" "600970" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the MYO6 database using: www.LOVD.nl/MYO6
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/MYO6_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-11 20:33:11" "00000" "2025-07-16 13:58:02" ## 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}}" "00014181" "MYO6" "myosin VI" "001" "NM_004999.3" "" "NP_004990.3" "" "" "" "-279" "8383" "3858" "76458909" "76629254" "" "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" "02262" "RS1" "retinoschisis, type 1, X-linked" "XLR" "312700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-12-19 09:25:40" "02580" "DFNA22" "deafness, autosomal dominant, type 22 (DFNA-22)" "AD" "606346" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02707" "DFNB37" "deafness, autosomal recessive, type 37 (DFNB-37)" "AR" "607821" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "MYO6" "02580" "MYO6" "02707" "MYO6" "05458" "MYO6" "06877" ## Individuals ## Do not remove or alter this header ## ## Count = 128 "{{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}}" "00002997" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00003000" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00050621" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00059028" "" "" "" "3" "" "01542" "" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00059163" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059164" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059165" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00079876" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "0" "" "" "" "" "00080003" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080008" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080015" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080055" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080059" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080139" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00163052" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00163053" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163054" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163055" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163056" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163057" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163058" "" "" "" "1" "" "02416" "{PMID:Volk et al., 2013:23635807}" "proband" "M" "" "Germany" "" "0" "" "" "" "" "00163059" "" "" "" "1" "" "02416" "{PMID:Volk et al., 2013:23635807}" "relative" "F" "" "Germany" "" "0" "" "" "" "" "00163060" "" "" "" "1" "" "02416" "{PMID:Volk et al., 2013:23635807}" "relative" "F" "" "Germany" "" "0" "" "" "" "" "00163061" "" "" "" "1" "" "02416" "{PMID:Volk et al., 2013:23635807}" "relative" "F" "" "Germany" "" "0" "" "" "" "" "00163062" "" "" "" "1" "" "02416" "{PMID:Volk et al., 2013:23635807}" "relative" "F" "" "Germany" "" "0" "" "" "" "" "00163063" "" "" "" "1" "" "02416" "{PMID:Volk et al., 2013:23635807}" "relative" "M" "" "Germany" "" "0" "" "" "" "" "00163064" "" "" "" "1" "" "02416" "{PMID:Choi 2013:23990876}" "proband" "M" "" "Korea" "" "0" "" "" "" "SB60-107" "00163065" "" "" "" "1" "" "02416" "{PMID:Choi 2013:23990876}" "proband" "F" "" "Korea" "" "0" "" "" "" "SH21-50" "00163066" "" "" "" "1" "" "02416" "{PMID:Miyagawa et al., 2013:23967202}" "proband" "F" "" "Japan" "" "0" "" "" "" "" "00163067" "" "" "" "1" "" "02416" "{PMID:Kwon et al., 2014:25080041}" "proband" "F" "" "Korea" "" "0" "" "" "" "" "00163068" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00163069" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "proband" "" "" "China" "" "0" "" "" "" "" "00163070" "" "" "" "1" "" "02416" "{PMID:Mohiddin et al., 2004:15060111}" "proband" "M" "" "" "" "0" "" "" "" "" "00163071" "" "" "" "1" "" "02416" "{PMID:Mohiddin et al., 2004:15060111}" "relative" "M" "" "" "" "0" "" "" "" "" "00163072" "" "" "" "1" "" "02416" "{PMID:Mohiddin et al., 2004:15060111}" "relative" "M" "" "" "" "0" "" "" "" "" "00163073" "" "" "" "1" "" "02416" "{PMID:Mohiddin et al., 2004:15060111}" "relative" "M" "" "" "" "0" "" "" "" "" "00163074" "" "" "" "1" "" "02416" "{PMID:Mohiddin et al., 2004:15060111}" "relative" "F" "" "" "" "0" "" "" "" "" "00163075" "" "" "" "1" "" "02416" "{PMID:Mohiddin et al., 2004:15060111}" "relative" "F" "" "" "" "0" "" "" "" "" "00163076" "" "" "" "1" "" "02416" "{PMID:Mohiddin et al., 2004:15060111}" "relative" "F" "" "" "" "0" "" "" "" "" "00163077" "" "" "" "1" "" "02416" "{PMID:Mohiddin et al., 2004:15060111}" "relative" "M" "" "" "" "0" "" "" "" "" "00163078" "" "" "" "1" "" "02416" "{PMID:Mohiddin et al., 2004:15060111}" "relative" "F" "" "" "" "0" "" "" "" "" "00163079" "" "" "" "1" "" "02416" "{PMID:Mohiddin et al., 2004:15060111}" "relative" "F" "" "" "" "0" "" "" "" "" "00163080" "" "" "" "1" "" "02416" "{PMID:Shearer et al., 2010:21078986}" "proband" "" "" "" "" "0" "" "" "" "" "00163081" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2014:24105371}" "proband - homozygous for semi-dominant mutation" "F" "" "Palestine" "" "0" "" "" "" "" "00163082" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2014:24105371}" "relative" "M" "" "Palestine" "" "0" "" "" "" "" "00163083" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2014:24105371}" "relative" "F" "" "Palestine" "" "0" "" "" "" "" "00163084" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2014:24105371}" "relative" "M" "" "Palestine" "" "0" "" "" "" "" "00163085" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2014:24105371}" "relative" "M" "" "Palestine" "" "0" "" "" "" "" "00163086" "" "" "" "1" "" "02416" "{PMID:Melchionda et al., 2001:11468689}" "proband" "M" "" "Italy" "" "0" "" "" "" "" "00163087" "" "" "" "1" "" "02416" "{PMID:Melchionda et al., 2001:11468689}" "relative" "F" "" "Italy" "" "0" "" "" "" "" "00163088" "" "" "" "1" "" "02416" "{PMID:Melchionda et al., 2001:11468689}" "relative" "M" "" "Italy" "" "0" "" "" "" "" "00163089" "" "" "" "1" "" "02416" "{PMID:Melchionda et al., 2001:11468689}" "relative" "F" "" "Italy" "" "0" "" "" "" "" "00163090" "" "" "" "1" "" "02416" "{PMID:Melchionda et al., 2001:11468689}" "relative" "F" "" "Italy" "" "0" "" "" "" "" "00163091" "" "" "" "1" "" "02416" "{PMID:Melchionda et al., 2001:11468689}" "relative" "F" "" "Italy" "" "0" "" "" "" "" "00163092" "" "" "" "1" "" "02416" "{PMID:Melchionda et al., 2001:11468689}" "relative" "M" "" "Italy" "" "0" "" "" "" "" "00163093" "" "" "" "1" "" "02416" "{PMID:Melchionda et al., 2001:11468689}" "relative" "F" "" "Italy" "" "0" "" "" "" "" "00163094" "" "" "" "1" "" "02416" "{PMID:Melchionda et al., 2001:11468689}" "relative" "F" "" "Italy" "" "0" "" "" "" "" "00163095" "" "" "" "1" "" "02416" "{PMID:Miyagawa et al., 2013:23967202}" "proband" "F" "" "Japan" "" "0" "" "" "" "" "00163096" "" "" "" "1" "" "02416" "{PMID:Miyagawa et al., 2013:23967202}" "relative" "M" "" "Japan" "" "0" "" "" "" "" "00163097" "" "" "" "1" "" "02416" "{PMID:Miyagawa et al., 2013:23967202}" "relative" "M" "" "Japan" "" "0" "" "" "" "" "00163098" "" "" "" "17" "" "02416" "{PMID:Hilgert 2008:18212818}" "proband, 6-generation family, 17 affected (9F, 8M)" "F" "" "Belgium" "" "0" "" "" "" "Fam2" "00163099" "" "" "00163098" "1" "" "02416" "{PMID:Hilgert 2008:18212818}" "relative" "F" "" "Belgium" "" "0" "" "" "" "Fam2" "00163100" "" "" "" "1" "" "02416" "{PMID:Kwon et al., 2014:25080041}" "proband" "M" "" "Korea" "" "0" "" "" "" "" "00163101" "" "" "" "1" "" "02416" "{PMID:Sanggaard et al., 2008:18348273}" "relative" "M" "" "Denmark" "" "0" "" "" "" "" "00163102" "" "" "" "1" "" "02416" "{PMID:Sanggaard et al., 2008:18348273}" "relative" "F" "" "Denmark" "" "0" "" "" "" "" "00163103" "" "" "" "1" "" "02416" "{PMID:Kwon et al., 2014:25080041}" "proband" "F" "" "Korea" "" "0" "" "" "" "" "00163104" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2014:24105371}" "proband" "M" "" "Palestine" "" "0" "" "" "" "" "00163105" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2014:24105371}" "relative" "F" "" "Palestine" "" "0" "" "" "" "" "00163106" "" "" "" "1" "" "02416" "{PMID:Cheng et al., 2014:25227905}" "proband" "F" "" "China" "" "0" "" "" "" "" "00163107" "" "" "" "1" "" "02416" "{PMID:Cheng et al., 2014:25227905}" "relative" "M" "" "China" "" "0" "" "" "" "" "00163108" "" "" "" "1" "" "02416" "{PMID:Cheng et al., 2014:25227905}" "relative" "M" "" "China" "" "0" "" "" "" "" "00163109" "" "" "" "1" "" "02416" "{PMID:Cheng et al., 2014:25227905}" "relative" "F" "" "China" "" "0" "" "" "" "" "00163110" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "proband" "F" "" "China" "" "0" "" "" "" "" "00163111" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "relative" "F" "" "China" "" "0" "" "" "" "" "00163112" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "relative" "F" "" "China" "" "0" "" "" "" "" "00163113" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "relative" "M" "" "China" "" "0" "" "" "" "" "00163114" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "relative" "M" "" "China" "" "0" "" "" "" "" "00163115" "" "" "" "1" "" "02416" "{PMID:Kwon et al., 2014:25080041}" "proband" "F" "" "Korea" "" "0" "" "" "" "" "00163116" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00163117" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163118" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163119" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163120" "" "" "" "1" "" "02416" "{PMID:Ahmed et al., 2003:12687499}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163121" "" "" "" "1" "" "02416" "{PMID:Oonk et al., 2013:23340379}" "proband" "F" "" "Netherlands" "" "0" "" "" "" "" "00163122" "" "" "" "1" "" "02416" "{PMID:Oonk et al., 2013:23340379}" "relative" "F" "" "Netherlands" "" "0" "" "" "" "" "00163123" "" "" "" "1" "" "02416" "{PMID:Oonk et al., 2013:23340379}" "relative" "F" "" "Netherlands" "" "0" "" "" "" "" "00163124" "" "" "" "1" "" "02416" "{PMID:Oonk et al., 2013:23340379}" "relative" "M" "" "Netherlands" "" "0" "" "" "" "" "00163125" "" "" "" "1" "" "02416" "{PMID:Oonk et al., 2013:23340379}" "relative" "F" "" "Netherlands" "" "0" "" "" "" "" "00168028" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "F" "" "France" "" "0" "" "" "" "S1761" "00266352" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00267027" "" "" "" "6" "" "02476" "" "" "M" "no" "Argentina" "" "0" "" "" "" "" "00294205" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294206" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294207" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294208" "" "" "" "132" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305118" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305119" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327070" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB290-582" "00327073" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB292-585" "00327081" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB305-607" "00327084" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB342-674" "00327110" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SH314-710" "00327124" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB427-829" "00327125" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB289-580" "00335525" "" "" "" "12" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "" "F" "no" "Brazil" ">34y" "0" "" "" "Brazilian admixed" "III:1" "00335526" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "Father of #00335525" "M" "no" "Brazil" ">65y" "0" "" "" "Brazilian admixed" "II:2" "00335527" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "Paternal grandmother of #00335525" "F" "no" "Brazil" ">90y" "0" "" "" "Brazilian admixed" "I:1" "00335528" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "paternal aunt of #00335525" "F" "no" "Brazil" ">60y" "0" "" "" "Brazilian admixed" "II:3" "00335529" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "paternal aunt of #00335525" "F" "no" "Brazil" ">56y" "0" "" "" "Brazilian admixed" "II:5" "00335530" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "paternal uncle of #00335525" "M" "no" "Brazil" ">69y" "0" "" "" "Brazilian admixed" "II:7" "00335531" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "paternal uncle of #00335525" "M" "no" "Brazil" ">67y" "0" "" "" "Brazilian admixed" "II:9" "00335532" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "paternal uncle of #00335525" "M" "no" "Brazil" ">54y" "0" "" "" "Brazilian admixed" "II:12" "00335534" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "paternal first cousin of Individual #00335525" "F" "no" "Brazil" ">34y" "0" "" "" "Brazilian admixed" "III:2" "00335536" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "paternal first cousin of Individual #00335525" "F" "no" "Brazil" ">47y" "0" "" "" "Brazilian admixed" "III:4" "00335538" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "paternal second cousin of Individual #00335525" "F" "no" "Brazil" ">15y" "0" "" "" "Brazilian admixed" "IV:1" "00335539" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "paternal first cousin of Individual #00335525" "F" "no" "Brazil" ">34y" "0" "" "" "Brazilian admixed" "III:5" "00335542" "" "" "00335525" "1" "" "04006" "{PMID:Sampaio-Silva 2018:29044474}" "paternal first cousin of Individual #00335525" "F" "no" "Brazil" ">37y" "0" "" "" "Brazilian admixed" "III:6" "00386331" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "186502" "00441492" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "PAR062" "00441493" "" "" "" "2" "" "00006" "{PMID:Boucher 2020:33229591}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "PAR013" "00441494" "" "" "" "2" "" "00006" "{PMID:Boucher 2020:33229591}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "33006" "00441495" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "PAR010" "00441523" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "6505" "00441524" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "6489" "00441649" "" "" "" "7" "" "00006" "{PMID:Naz 2017:27573290}" "family, 7 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-16" "00459353" "" "" "" "4" "" "00006" "{PMID:Chen 2021:34675999}" "3-generation family, 4 affected (grandfather/4 boys), 4 unaffected carrier females" "M" "" "China" "" "0" "" "" "" "FamPatIII6" "00465482" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465483" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 128 "{{individualid}}" "{{diseaseid}}" "00002997" "00198" "00003000" "00198" "00003000" "05121" "00050621" "00198" "00059028" "02580" "00059163" "00531" "00059164" "00531" "00059165" "00531" "00079876" "00350" "00080003" "05103" "00080008" "05103" "00080015" "05103" "00080055" "05103" "00080059" "05103" "00080139" "05103" "00163052" "05400" "00163053" "05400" "00163054" "05400" "00163055" "05400" "00163056" "05400" "00163057" "05400" "00163058" "00350" "00163059" "00350" "00163060" "00350" "00163061" "00350" "00163062" "00350" "00163063" "00350" "00163064" "00350" "00163065" "00350" "00163066" "00350" "00163067" "00350" "00163068" "05400" "00163069" "05400" "00163070" "00350" "00163071" "00350" "00163072" "00350" "00163073" "00350" "00163074" "00350" "00163075" "00350" "00163076" "00350" "00163077" "00350" "00163078" "00350" "00163079" "00350" "00163080" "00350" "00163081" "00350" "00163082" "00350" "00163083" "00350" "00163084" "00350" "00163085" "00350" "00163086" "00350" "00163087" "00350" "00163088" "00350" "00163089" "00350" "00163090" "00350" "00163091" "00350" "00163092" "00350" "00163093" "00350" "00163094" "00350" "00163095" "00350" "00163096" "00350" "00163097" "00350" "00163098" "00350" "00163099" "00350" "00163100" "00350" "00163101" "00350" "00163102" "00350" "00163103" "00350" "00163104" "05400" "00163105" "05400" "00163106" "00350" "00163107" "00350" "00163108" "00350" "00163109" "00350" "00163110" "00350" "00163111" "00350" "00163112" "00350" "00163113" "00350" "00163114" "00350" "00163115" "00350" "00163116" "05400" "00163117" "05400" "00163118" "05400" "00163119" "05400" "00163120" "05400" "00163121" "00350" "00163122" "00350" "00163123" "00350" "00163124" "00350" "00163125" "00350" "00168028" "05400" "00267027" "05103" "00294205" "00198" "00294206" "00198" "00294207" "00198" "00294208" "00198" "00305118" "00198" "00305119" "00198" "00327070" "05086" "00327073" "05086" "00327081" "05086" "00327084" "05086" "00327110" "05086" "00327124" "05086" "00327125" "05086" "00335525" "05086" "00335526" "05086" "00335527" "05086" "00335528" "05086" "00335529" "05086" "00335530" "05086" "00335531" "05086" "00335532" "05086" "00335534" "05086" "00335536" "05086" "00335538" "05086" "00335539" "05086" "00335542" "05086" "00386331" "02580" "00441492" "05086" "00441493" "05086" "00441494" "05086" "00441495" "05086" "00441523" "05086" "00441524" "05086" "00441649" "05086" "00459353" "02262" "00465482" "05086" "00465483" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00350, 00531, 02262, 02580, 02707, 05086, 05103, 05121, 05400, 05458, 06877 ## Count = 106 "{{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}}" "0000001848" "00198" "00002997" "00130" "Familial, autosomal dominant" "" "slowly progressive hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000001851" "00198" "00003000" "00130" "Familial, autosomal dominant" "" "bowlshaped hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000037233" "00198" "00050621" "00006" "Unknown" "" "global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement" "" "" "" "" "" "" "" "" "" "" "" "0000045617" "02580" "00059028" "01542" "Familial, autosomal dominant" "" "Teen onset (12-17y), moderate-profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000060261" "00350" "00079876" "01740" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000128189" "05400" "00163052" "02416" "Familial, autosomal recessive" "" "Vestibular dysfunction" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128190" "05400" "00163053" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128191" "05400" "00163054" "02416" "Familial, autosomal recessive" "" "Mild facial dysmorphology" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128192" "05400" "00163055" "02416" "Familial, autosomal recessive" "" "Mild facial dysmorphology" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128193" "05400" "00163056" "02416" "Familial, autosomal recessive" "" "RP and vestibular abnormality" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128194" "05400" "00163057" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128195" "00350" "00163058" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128196" "00350" "00163059" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128197" "00350" "00163060" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128198" "00350" "00163061" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128199" "00350" "00163062" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128200" "00350" "00163063" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128201" "00350" "00163064" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128202" "00350" "00163065" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128203" "00350" "00163066" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128204" "00350" "00163067" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128205" "05400" "00163068" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128206" "05400" "00163069" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128207" "00350" "00163070" "02416" "Familial, autosomal dominant" "" "Cardiac hypertrophy and QT interval prolongation" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128208" "00350" "00163071" "02416" "Familial, autosomal dominant" "" "Cardiac hypertrophy and QT interval prolongation" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128209" "00350" "00163072" "02416" "Familial, autosomal dominant" "" "Cardiac hypertrophy and QT interval prolongation" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128210" "00350" "00163073" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128211" "00350" "00163074" "02416" "Familial, autosomal dominant" "" "Abnormal ECG" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128212" "00350" "00163075" "02416" "Familial, autosomal dominant" "" "Abnormal ECG" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128213" "00350" "00163076" "02416" "Familial, autosomal dominant" "" "Cardiac hypertrophy and QT interval prolongation" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128214" "00350" "00163077" "02416" "Familial, autosomal dominant" "" "Abnormal ECG" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128215" "00350" "00163078" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128216" "00350" "00163079" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128217" "00350" "00163080" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128218" "00350" "00163081" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128219" "00350" "00163082" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128220" "00350" "00163083" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128221" "00350" "00163084" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128222" "00350" "00163085" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128223" "00350" "00163086" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128224" "00350" "00163087" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128225" "00350" "00163088" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128226" "00350" "00163089" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128227" "00350" "00163090" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128228" "00350" "00163091" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128229" "00350" "00163092" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128230" "00350" "00163093" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128231" "00350" "00163094" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128232" "00350" "00163095" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128233" "00350" "00163096" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128234" "00350" "00163097" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128235" "00350" "00163098" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128236" "00350" "00163099" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128237" "00350" "00163100" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128238" "00350" "00163101" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128239" "00350" "00163102" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128240" "00350" "00163103" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128241" "05400" "00163104" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128242" "05400" "00163105" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128243" "00350" "00163106" "02416" "Familial, autosomal dominant" "" "Mild to moderate" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128244" "00350" "00163107" "02416" "Familial, autosomal dominant" "" "Mild and COCH mutation" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128245" "00350" "00163108" "02416" "Familial, autosomal dominant" "" "Moderate and COCH mutation" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128246" "00350" "00163109" "02416" "Familial, autosomal dominant" "" "Moderate" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128247" "00350" "00163110" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128248" "00350" "00163111" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128249" "00350" "00163112" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128250" "00350" "00163113" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128251" "00350" "00163114" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128252" "00350" "00163115" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128253" "05400" "00163116" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128254" "05400" "00163117" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128255" "05400" "00163118" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128256" "05400" "00163119" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128257" "05400" "00163120" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-37" "deafness, autosomal recessive (DFNB)" "" "0000128258" "00350" "00163121" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128259" "00350" "00163122" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128260" "00350" "00163123" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128261" "00350" "00163124" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000128262" "00350" "00163125" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA-22" "deafness, nonsyndromic (DFNA)" "" "0000132892" "05400" "00168028" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-12" "deafness" "" "0000204124" "00198" "00266352" "02551" "Unknown" "" "Hearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "0000204965" "05103" "00267027" "02476" "Familial, autosomal dominant" "07y" "Postlingual, moderate, variable nonsyndromic hearing loss." "05y" "08y" "" "" "" "" "" "" "Nonsyndromic Hearing Loss" "Deafness" "" "0000253471" "05086" "00335525" "04006" "Familial, autosomal dominant" "33y" "HP:0000408, HP:0008615, HP:0008619" "19y" "19y" "19y" "" "" "" "" "" "" "" "" "0000253472" "05086" "00335526" "04006" "Familial, autosomal dominant" "65y" "HP:0000408, HP:0008615, HP:0008619" "52y" "66y" "52y" "" "" "" "" "" "" "" "" "0000253473" "05086" "00335527" "04006" "Familial, autosomal dominant" "90y" "HP:0000408, HP:0008615, HP:0008619" "?" "87y" "?" "" "" "" "" "" "" "" "" "0000253474" "05086" "00335528" "04006" "Familial, autosomal dominant" "58y" "HP:0000408, HP:0008615, HP:0008619" "40y" "56y" "40y" "" "" "" "" "" "" "" "" "0000253475" "05086" "00335529" "04006" "Familial, autosomal dominant" "56y" "HP:0000408, HP:0008615, HP:0008619" "40y" "58y" "40y" "" "" "" "" "" "" "" "" "0000253476" "05086" "00335530" "04006" "Familial, autosomal dominant" "69y" "HP:0000408, HP:0008615, HP:0008619" "60y" "60y" "60y" "" "" "" "" "" "" "" "" "0000253477" "05086" "00335531" "04006" "Familial, autosomal dominant" "67y" "HP:0000408, HP:0008615, HP:0008619" "18y" "69y" "18y" "" "" "" "" "" "" "" "" "0000253479" "05086" "00335532" "04006" "Familial, autosomal dominant" "54y" "HP:0000408, HP:0008615, HP:0008619" "18y" "55y" "18y" "" "" "" "" "" "" "" "" "0000253480" "05086" "00335534" "04006" "Familial, autosomal dominant" "33y" "HP:0000408, HP:0008615, HP:0008619" "30y" "33y" "30y" "" "" "" "" "" "" "" "" "0000253482" "05086" "00335536" "04006" "Familial, autosomal dominant" "47y" "HP:0000408, HP:0008615, HP:0008619" "26y" "?" "26y" "" "" "" "" "" "" "" "" "0000253484" "05086" "00335538" "04006" "Familial, autosomal dominant" "15y" "HP:0000408, HP:0008615, HP:0008619" "12y" "?" "12y" "" "" "" "" "" "" "" "" "0000253485" "05086" "00335539" "04006" "Familial, autosomal dominant" "34y" "HP:0000408, HP:0008615, HP:0008619" "20y" "36y" "20y" "" "" "" "" "" "" "" "" "0000253487" "05086" "00335542" "04006" "Familial, autosomal dominant" "37y" "HP:0000408, HP:0008615, HP:0008619" "36y" "35y" "36y" "" "" "" "" "" "" "" "" "0000280134" "02580" "00386331" "01164" "Familial, autosomal dominant" "06y" "Hearing impairment, Sensorineural hearing impairment, Hyperactivity, sister also affected (untested)" "" "" "" "" "" "" "" "" "" "" "" "0000330930" "05086" "00441492" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000330931" "05086" "00441493" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000330932" "05086" "00441494" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000330933" "05086" "00441495" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000330961" "05086" "00441523" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000330962" "05086" "00441524" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000331058" "05086" "00441649" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000347449" "02262" "00459353" "00006" "Familial, X-linked recessive" "" "see paper; ..., retinoschisis; color vision blue-purple anomaly" "" "" "" "" "" "" "" "" "RS1" "retinoschisis" "" "0000351030" "05086" "00465482" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "non syndromic hearing loss" "" "0000351031" "05086" "00465483" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "non syndromic hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 128 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002903" "00002997" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000002906" "00003000" "3" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000050566" "00050621" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000058993" "00059028" "1" "01542" "01542" "2016-02-16 00:05:02" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059140" "00059163" "1" "01551" "01551" "2016-02-29 11:57:13" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059141" "00059164" "1" "01551" "01551" "2016-02-29 12:03:23" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059143" "00059165" "1" "01551" "01551" "2016-02-29 12:07:13" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000079958" "00079876" "1" "01740" "01740" "2016-08-24 15:27:52" "" "" "SEQ-NG" "DNA" "" "" "0000080081" "00080003" "1" "01740" "01740" "2016-09-01 11:38:56" "" "" "SEQ-NG" "DNA" "" "" "0000080086" "00080008" "1" "01740" "01740" "2016-09-01 11:46:15" "" "" "SEQ-NG" "DNA" "" "" "0000080093" "00080015" "1" "01740" "01740" "2016-09-01 12:01:53" "" "" "SEQ-NG" "DNA" "" "" "0000080134" "00080055" "1" "01740" "01740" "2016-09-01 14:09:05" "" "" "SEQ-NG" "DNA" "" "" "0000080138" "00080059" "1" "01740" "01740" "2016-09-01 14:14:52" "" "" "SEQ-NG" "DNA" "" "" "0000080233" "00080139" "1" "01740" "01740" "2016-09-02 08:52:54" "" "" "SEQ-NG" "DNA" "" "" "0000163917" "00163052" "1" "02416" "00110" "2015-01-13 12:40:27" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163918" "00163053" "1" "02416" "00110" "2015-01-13 14:14:24" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163919" "00163054" "1" "02416" "00110" "2015-01-13 14:17:02" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163920" "00163055" "1" "02416" "00110" "2015-01-13 14:20:03" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163921" "00163056" "1" "02416" "00110" "2015-01-13 14:55:48" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163922" "00163057" "1" "02416" "00110" "2015-01-13 14:58:21" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163923" "00163058" "1" "02416" "00110" "2015-01-28 18:05:56" "00110" "2015-01-29 11:15:23" "SEQ" "DNA" "" "" "0000163924" "00163059" "1" "02416" "00110" "2015-01-28 18:09:00" "00110" "2015-01-29 11:16:07" "SEQ" "DNA" "" "" "0000163925" "00163060" "1" "02416" "00110" "2015-01-28 18:12:01" "00110" "2015-01-29 11:18:05" "SEQ" "DNA" "" "" "0000163926" "00163061" "1" "02416" "00110" "2015-01-28 18:21:07" "00110" "2015-01-29 11:20:03" "SEQ" "DNA" "" "" "0000163927" "00163062" "1" "02416" "00110" "2015-01-28 18:23:28" "00110" "2015-01-29 11:20:47" "SEQ" "DNA" "" "" "0000163928" "00163063" "1" "02416" "00110" "2015-01-28 18:25:14" "00110" "2015-01-29 11:21:41" "SEQ" "DNA" "" "" "0000163929" "00163064" "1" "02416" "00110" "2015-01-21 18:55:46" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000163930" "00163065" "1" "02416" "00110" "2015-01-21 18:58:49" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000163931" "00163066" "1" "02416" "00110" "2015-01-20 17:11:15" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000163932" "00163067" "1" "02416" "00110" "2015-01-21 16:32:44" "" "" "SEQ" "DNA" "" "" "0000163933" "00163068" "1" "02416" "00110" "2015-01-13 17:56:13" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163934" "00163069" "1" "02416" "00110" "2015-01-29 11:32:13" "00110" "2015-01-29 11:32:44" "SEQ;SEQ-NG-S" "DNA" "" "" "0000163935" "00163070" "1" "02416" "00110" "2015-01-14 17:55:09" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163936" "00163071" "1" "02416" "00110" "2015-01-14 18:16:32" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163937" "00163072" "1" "02416" "00110" "2015-01-14 18:19:04" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163938" "00163073" "1" "02416" "00110" "2015-01-14 18:21:35" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163939" "00163074" "1" "02416" "00110" "2015-01-14 18:23:33" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163940" "00163075" "1" "02416" "00110" "2015-01-14 18:25:49" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163941" "00163076" "1" "02416" "00110" "2015-01-14 18:28:04" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163942" "00163077" "1" "02416" "00110" "2015-01-14 18:29:58" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163943" "00163078" "1" "02416" "00110" "2015-01-14 18:32:11" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163944" "00163079" "1" "02416" "00110" "2015-01-14 18:34:09" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163945" "00163080" "1" "02416" "00110" "2015-01-22 19:19:05" "" "" "SEQ-NG-S" "DNA" "" "" "0000163946" "00163081" "1" "02416" "00110" "2015-01-20 19:10:28" "00110" "2015-01-21 11:40:22" "SEQ;SEQ-NG-S" "DNA" "" "" "0000163947" "00163082" "1" "02416" "00110" "2015-01-21 11:48:31" "" "" "SEQ" "DNA" "" "" "0000163948" "00163083" "1" "02416" "00110" "2015-01-21 11:50:52" "" "" "SEQ" "DNA" "" "" "0000163949" "00163084" "1" "02416" "00110" "2015-01-21 11:52:30" "" "" "SEQ" "DNA" "" "" "0000163950" "00163085" "1" "02416" "00110" "2015-01-21 11:54:40" "" "" "SEQ" "DNA" "" "" "0000163951" "00163086" "1" "02416" "00110" "2014-12-17 19:06:00" "00110" "2014-12-18 14:35:20" "SEQ" "DNA" "" "" "0000163952" "00163087" "1" "02416" "00110" "2014-12-17 19:13:13" "00110" "2014-12-18 17:18:17" "SEQ" "DNA" "" "" "0000163953" "00163088" "1" "02416" "00110" "2014-12-18 17:28:08" "" "" "SEQ" "DNA" "" "" "0000163954" "00163089" "1" "02416" "00110" "2014-12-18 17:32:03" "00110" "2014-12-18 17:49:16" "SEQ" "DNA" "" "" "0000163955" "00163090" "1" "02416" "00110" "2014-12-18 17:34:48" "" "" "SEQ" "DNA" "" "" "0000163956" "00163091" "1" "02416" "00110" "2014-12-18 17:38:25" "00110" "2014-12-18 17:51:16" "SEQ" "DNA" "" "" "0000163957" "00163092" "1" "02416" "00110" "2014-12-18 17:41:07" "" "" "SEQ" "DNA" "" "" "0000163958" "00163093" "1" "02416" "00110" "2014-12-18 17:46:52" "" "" "SEQ" "DNA" "" "" "0000163959" "00163094" "1" "02416" "00110" "2014-12-18 17:54:28" "" "" "SEQ" "DNA" "" "" "0000163960" "00163095" "1" "02416" "00110" "2015-01-20 16:55:33" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000163961" "00163096" "1" "02416" "00110" "2015-01-20 16:57:43" "" "" "SEQ" "DNA" "" "" "0000163962" "00163097" "1" "02416" "00110" "2015-01-20 17:00:04" "" "" "SEQ" "DNA" "" "" "0000163963" "00163098" "1" "02416" "00110" "2015-01-16 11:44:38" "00110" "2015-01-16 16:23:28" "SEQ" "DNA" "" "" "0000163964" "00163099" "1" "02416" "00110" "2015-01-16 11:48:37" "00110" "2015-01-16 16:23:28" "SEQ" "DNA" "" "" "0000163965" "00163100" "1" "02416" "00110" "2015-01-21 15:58:43" "" "" "SEQ" "DNA" "" "" "0000163966" "00163101" "1" "02416" "00110" "2015-01-16 16:58:21" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000163967" "00163102" "1" "02416" "00110" "2015-01-16 17:01:26" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000163968" "00163103" "1" "02416" "00110" "2015-01-21 16:29:02" "" "" "SEQ" "DNA" "" "" "0000163969" "00163104" "1" "02416" "00110" "2015-01-20 19:18:38" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000163970" "00163105" "1" "02416" "00110" "2015-01-21 08:25:57" "" "" "SEQ" "DNA" "" "" "0000163971" "00163106" "1" "02416" "00110" "2015-01-22 18:52:10" "" "" "SEQ" "DNA" "" "" "0000163972" "00163107" "1" "02416" "00110" "2015-01-22 19:00:04" "" "" "SEQ" "DNA" "" "" "0000163973" "00163108" "1" "02416" "00110" "2015-01-22 19:03:32" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000163974" "00163109" "1" "02416" "00110" "2015-01-22 19:07:49" "" "" "SEQ" "DNA" "" "" "0000163975" "00163110" "1" "02416" "00110" "2015-01-21 17:58:11" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000163976" "00163111" "1" "02416" "00110" "2015-01-21 18:00:26" "" "" "SEQ" "DNA" "" "" "0000163977" "00163112" "1" "02416" "00110" "2015-01-21 18:02:15" "" "" "SEQ" "DNA" "" "" "0000163978" "00163113" "1" "02416" "00110" "2015-01-21 18:03:48" "" "" "SEQ" "DNA" "" "" "0000163979" "00163114" "1" "02416" "00110" "2015-01-21 18:05:45" "" "" "SEQ" "DNA" "" "" "0000163980" "00163115" "1" "02416" "00110" "2015-01-21 16:03:59" "" "" "SEQ" "DNA" "" "" "0000163981" "00163116" "1" "02416" "00110" "2015-01-13 15:18:58" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163982" "00163117" "1" "02416" "00110" "2015-01-13 17:14:07" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163983" "00163118" "1" "02416" "00110" "2015-01-13 17:28:40" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163984" "00163119" "1" "02416" "00110" "2015-01-13 17:30:56" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163985" "00163120" "1" "02416" "00110" "2015-01-13 17:33:07" "00110" "2015-01-16 16:23:04" "SEQ" "DNA" "" "" "0000163986" "00163121" "1" "02416" "00110" "2015-01-21 19:24:17" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000163987" "00163122" "1" "02416" "00110" "2015-01-22 18:13:03" "" "" "SEQ" "DNA" "" "" "0000163988" "00163123" "1" "02416" "00110" "2015-01-22 18:16:40" "" "" "SEQ" "DNA" "" "" "0000163989" "00163124" "1" "02416" "00110" "2015-01-22 18:19:52" "" "" "SEQ" "DNA" "" "" "0000163990" "00163125" "1" "02416" "00110" "2015-01-22 18:23:30" "" "" "SEQ" "DNA" "" "" "0000168907" "00168028" "1" "02416" "02416" "2017-08-14 15:39:29" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000267476" "00266352" "1" "02551" "02551" "2019-10-24 13:19:36" "" "" "SEQ" "DNA" "" "" "0000268155" "00267027" "1" "02476" "02476" "2019-10-29 19:49:23" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000295373" "00294205" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295374" "00294206" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295375" "00294207" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295376" "00294208" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306247" "00305118" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306248" "00305119" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328284" "00327070" "1" "03611" "03611" "2021-01-20 03:52:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000328287" "00327073" "1" "03611" "03611" "2021-01-20 03:58:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000328295" "00327081" "1" "03611" "03611" "2021-01-20 04:12:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000328298" "00327084" "1" "03611" "03611" "2021-01-20 04:17:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000328322" "00327110" "1" "03611" "03611" "2021-01-20 07:35:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000328336" "00327124" "1" "03611" "03611" "2021-01-20 07:58:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000328337" "00327125" "1" "03611" "03611" "2021-01-20 07:59:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000336754" "00335525" "1" "04006" "04006" "2021-03-07 14:38:06" "" "" "SEQ;SEQ-NG-IT" "DNA" "Blood" "" "0000336755" "00335526" "1" "04006" "04006" "2021-03-07 15:03:52" "" "" "SEQ" "DNA" "Blood" "" "0000336756" "00335527" "1" "04006" "04006" "2021-03-07 15:20:31" "" "" "SEQ" "DNA" "Blood" "" "0000336757" "00335528" "1" "04006" "04006" "2021-03-07 15:32:28" "" "" "SEQ" "DNA" "" "" "0000336758" "00335529" "1" "04006" "04006" "2021-03-07 15:43:55" "" "" "SEQ" "DNA" "Blood" "" "0000336759" "00335530" "1" "04006" "04006" "2021-03-07 15:51:50" "" "" "SEQ" "DNA" "Blood" "" "0000336760" "00335531" "1" "04006" "04006" "2021-03-07 16:05:50" "" "" "SEQ" "DNA" "Blood" "" "0000336762" "00335532" "1" "04006" "04006" "2021-03-07 16:13:01" "" "" "SEQ" "DNA" "Blood" "" "0000336763" "00335534" "1" "04006" "04006" "2021-03-07 16:20:09" "" "" "SEQ" "DNA" "Blood" "" "0000336765" "00335536" "1" "04006" "04006" "2021-03-07 16:34:09" "" "" "SEQ" "DNA" "Blood" "" "0000336767" "00335538" "1" "04006" "04006" "2021-03-07 16:41:20" "" "" "SEQ" "DNA" "Blood" "" "0000336768" "00335539" "1" "04006" "04006" "2021-03-07 16:47:54" "" "" "SEQ" "DNA" "Blood" "" "0000336770" "00335542" "1" "04006" "04006" "2021-03-07 16:56:19" "" "" "SEQ" "DNA" "Blood" "" "0000387560" "00386331" "1" "01164" "01164" "2021-10-21 10:11:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000442978" "00441492" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442979" "00441493" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442980" "00441494" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442981" "00441495" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443009" "00441523" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443010" "00441524" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443135" "00441649" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000460974" "00459353" "1" "00006" "00006" "2024-12-24 10:32:56" "" "" "SEQ-NG" "DNA" "" "WES" "0000467131" "00465482" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467132" "00465483" "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 = 93 "{{screeningid}}" "{{geneid}}" "0000002903" "MYO6" "0000002906" "CDH23" "0000059140" "MYO6" "0000059141" "MYO6" "0000059143" "MYO6" "0000163917" "MYO6" "0000163918" "MYO6" "0000163919" "MYO6" "0000163920" "MYO6" "0000163921" "MYO6" "0000163922" "MYO6" "0000163923" "MYO6" "0000163924" "MYO6" "0000163925" "MYO6" "0000163926" "MYO6" "0000163927" "MYO6" "0000163928" "MYO6" "0000163929" "MYO6" "0000163930" "MYO6" "0000163931" "MYO6" "0000163932" "MYO6" "0000163933" "MYO6" "0000163934" "MYO6" "0000163935" "MYO6" "0000163936" "MYO6" "0000163937" "MYO6" "0000163938" "MYO6" "0000163939" "MYO6" "0000163940" "MYO6" "0000163941" "MYO6" "0000163942" "MYO6" "0000163943" "MYO6" "0000163944" "MYO6" "0000163945" "MYO6" "0000163946" "MYO6" "0000163947" "MYO6" "0000163948" "MYO6" "0000163949" "MYO6" "0000163950" "MYO6" "0000163951" "MYO6" "0000163952" "MYO6" "0000163953" "MYO6" "0000163954" "MYO6" "0000163955" "MYO6" "0000163956" "MYO6" "0000163957" "MYO6" "0000163958" "MYO6" "0000163959" "MYO6" "0000163960" "MYO6" "0000163961" "MYO6" "0000163962" "MYO6" "0000163963" "MYO6" "0000163964" "MYO6" "0000163965" "MYO6" "0000163966" "MYO6" "0000163967" "MYO6" "0000163968" "MYO6" "0000163969" "MYO6" "0000163970" "MYO6" "0000163971" "MYO6" "0000163972" "MYO6" "0000163973" "MYO6" "0000163974" "MYO6" "0000163975" "MYO6" "0000163976" "MYO6" "0000163977" "MYO6" "0000163978" "MYO6" "0000163979" "MYO6" "0000163980" "MYO6" "0000163981" "MYO6" "0000163982" "MYO6" "0000163983" "MYO6" "0000163984" "MYO6" "0000163985" "MYO6" "0000163986" "MYO6" "0000163987" "MYO6" "0000163988" "MYO6" "0000163989" "MYO6" "0000163990" "MYO6" "0000268155" "MYO6" "0000336755" "MYO6" "0000336756" "MYO6" "0000336757" "MYO6" "0000336758" "MYO6" "0000336759" "MYO6" "0000336760" "MYO6" "0000336762" "MYO6" "0000336763" "MYO6" "0000336765" "MYO6" "0000336767" "MYO6" "0000336768" "MYO6" "0000336770" "MYO6" "0000387560" "MYO6" ## 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 = 253 "{{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}}" "0000021271" "1" "70" "6" "76570813" "76570813" "subst" "0" "00130" "MYO6_000030" "g.76570813G>T" "" "{PMID:Neveling 2013:24123792}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75861096G>T" "" "likely pathogenic" "" "0000021275" "1" "70" "6" "76564988" "76564988" "del" "0" "00130" "MYO6_000031" "g.76564988del" "" "{PMID:Neveling 2013:24123792}" "" "" "MYO6 mutation explains phenotype, better than CHD23 mutations, segregation analysis needed" "Unknown" "?" "" "0" "" "" "g.75855271del" "" "likely pathogenic" "" "0000079546" "21" "90" "6" "73709065" "76815249" "del" "0" "00006" "KHDC3L_000005" "g.73709065_76815249del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000089792" "20" "90" "6" "76568710" "76568712" "delins" "0" "01542" "MYO6_000032" "g.76568710_76568712delinsC" "1/177 patients" "PMID: 33111345" "" "1473_1475del3insC" "0/299 controls" "Germline" "yes" "" "0" "" "" "g.75858993_75858995delinsC" "236034" "pathogenic" "" "0000089948" "0" "50" "6" "76550356" "76550356" "subst" "0" "01551" "MYO6_000034" "g.76550356G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.75840639G>A" "" "VUS" "" "0000089949" "0" "50" "6" "76532544" "76532544" "subst" "6.09464E-5" "01551" "MYO6_000033" "g.76532544A>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.75822827A>G" "" "VUS" "" "0000089950" "0" "50" "6" "76599857" "76599858" "ins" "0" "01551" "MYO6_000035" "g.76599857_76599858insGA" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.75890140_75890141insGA" "" "VUS" "" "0000089952" "0" "50" "6" "76600984" "76600986" "del" "0" "01551" "MYO6_000036" "g.76600984_76600986del" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "2907_2909delAAG" "" "Germline" "" "" "0" "" "" "g.75891267_75891269del" "" "VUS" "" "0000128833" "1" "70" "6" "76570813" "76570813" "subst" "0" "01740" "MYO6_000030" "g.76570813G>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75861096G>T" "" "likely pathogenic" "" "0000128960" "1" "70" "6" "76564988" "76564988" "del" "0" "01740" "MYO6_000031" "g.76564988del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.75855271del" "" "likely pathogenic" "" "0000128965" "1" "70" "6" "76618327" "76618327" "del" "0" "01740" "MYO6_000041" "g.76618327del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.75908610del" "" "likely pathogenic" "" "0000128972" "1" "70" "6" "76550332" "76550332" "subst" "0" "01740" "MYO6_000038" "g.76550332C>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.75840615C>A" "" "likely pathogenic" "" "0000129041" "1" "70" "6" "76623950" "76623950" "subst" "4.06141E-6" "01740" "MYO6_000017" "g.76623950C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.75914233C>T" "" "likely pathogenic" "" "0000129047" "1" "70" "6" "76618267" "76618267" "subst" "4.06379E-6" "01740" "MYO6_000040" "g.76618267A>G" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.75908550A>G" "" "likely pathogenic" "" "0000129048" "2" "70" "6" "76576775" "76576775" "del" "0" "01740" "MYO6_000039" "g.76576775del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.75867058del" "" "likely pathogenic" "" "0000129184" "0" "50" "6" "76540142" "76540142" "subst" "7.32917E-5" "01740" "MYO6_000037" "g.76540142G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.75830425G>A" "" "VUS" "" "0000254278" "0" "30" "6" "76621396" "76621396" "subst" "0" "01943" "MYO6_000054" "g.76621396A>G" "" "" "" "MYO6(NM_004999.3):c.3420A>G (p.A1140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75911679A>G" "" "likely benign" "" "0000255241" "0" "30" "6" "76566810" "76566810" "subst" "0.00218373" "01943" "MYO6_000046" "g.76566810A>G" "" "" "" "MYO6(NM_004999.3):c.1224-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75857093A>G" "" "likely benign" "" "0000256357" "0" "50" "6" "76624662" "76624662" "subst" "8.12678E-5" "01943" "MYO6_000057" "g.76624662A>G" "" "" "" "MYO6(NM_004999.3):c.3791A>G (p.N1264S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75914945A>G" "" "VUS" "" "0000296244" "0" "10" "6" "76624741" "76624741" "subst" "0.251435" "02325" "MYO6_000058" "g.76624741C>T" "" "" "" "MYO6(NM_004999.4):c.*12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75915024C>T" "" "benign" "" "0000296245" "0" "10" "6" "76596728" "76596728" "subst" "0.250282" "02325" "MYO6_000050" "g.76596728C>T" "" "" "" "MYO6(NM_004999.4):c.2658+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75887011C>T" "" "benign" "" "0000296246" "0" "10" "6" "76604573" "76604573" "subst" "0" "02325" "MYO6_000052" "g.76604573T>G" "" "" "" "MYO6(NM_004999.4):c.3108-375T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75894856T>G" "" "benign" "" "0000299844" "0" "30" "6" "76558195" "76558195" "subst" "0.00134907" "02326" "MYO6_000044" "g.76558195C>T" "" "" "" "MYO6(NM_004999.3):c.1025C>T (p.A342V), MYO6(NM_004999.4):c.1025C>T (p.A342V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75848478C>T" "" "likely benign" "" "0000299845" "0" "30" "6" "76596587" "76596587" "subst" "0.00255954" "02326" "MYO6_000049" "g.76596587C>T" "" "" "" "MYO6(NM_004999.3):c.2534C>T (p.T845I), MYO6(NM_004999.4):c.2534C>T (p.T845I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75886870C>T" "" "likely benign" "" "0000302711" "0" "30" "6" "76558195" "76558195" "subst" "0.00134907" "01943" "MYO6_000044" "g.76558195C>T" "" "" "" "MYO6(NM_004999.3):c.1025C>T (p.A342V), MYO6(NM_004999.4):c.1025C>T (p.A342V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75848478C>T" "" "likely benign" "" "0000302712" "0" "50" "6" "76564997" "76564997" "subst" "0" "01943" "MYO6_000045" "g.76564997T>C" "" "" "" "MYO6(NM_004999.3):c.1220T>C (p.I407T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75855280T>C" "" "VUS" "" "0000302713" "0" "90" "6" "76572391" "76572392" "del" "0" "01943" "MYO6_000047" "g.76572391_76572392del" "" "" "" "MYO6(NM_004999.3):c.1625_1626delAC (p.H542Lfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75862674_75862675del" "" "pathogenic" "" "0000302714" "0" "30" "6" "76576804" "76576804" "subst" "5.3005E-5" "01943" "MYO6_000048" "g.76576804C>T" "" "" "" "MYO6(NM_004999.3):c.1926C>T (p.S642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75867087C>T" "" "likely benign" "" "0000302715" "0" "30" "6" "76596587" "76596587" "subst" "0.00255954" "01943" "MYO6_000049" "g.76596587C>T" "" "" "" "MYO6(NM_004999.3):c.2534C>T (p.T845I), MYO6(NM_004999.4):c.2534C>T (p.T845I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75886870C>T" "" "likely benign" "" "0000302716" "0" "30" "6" "76602282" "76602282" "subst" "0.00523832" "01943" "MYO6_000051" "g.76602282G>A" "" "" "" "MYO6(NM_004999.3):c.2982G>A (p.E994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75892565G>A" "" "likely benign" "" "0000302717" "0" "10" "6" "76618265" "76618265" "subst" "0.00122733" "01943" "MYO6_000053" "g.76618265G>A" "" "" "" "MYO6(NM_004999.3):c.3333G>A (p.V1111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75908548G>A" "" "benign" "" "0000302718" "0" "30" "6" "76623977" "76623977" "subst" "4.4674E-5" "01943" "MYO6_000055" "g.76623977C>T" "" "" "" "MYO6(NM_004999.3):c.3637C>T (p.P1213S, p.(Pro1213Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75914260C>T" "" "likely benign" "" "0000302719" "0" "10" "6" "76624538" "76624538" "subst" "0.0105954" "01943" "MYO6_000056" "g.76624538G>A" "" "" "" "MYO6(NM_004999.3):c.3667G>A (p.D1223N, p.(Asp1223Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75914821G>A" "" "benign" "" "0000302720" "0" "30" "6" "76542573" "76542573" "subst" "4.06388E-6" "01943" "MYO6_000042" "g.76542573C>A" "" "" "" "MYO6(NM_004999.3):c.406C>A (p.R136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75832856C>A" "" "likely benign" "" "0000302721" "0" "50" "6" "76542598" "76542598" "subst" "0" "01943" "MYO6_000043" "g.76542598G>A" "" "" "" "MYO6(NM_004999.3):c.431G>A (p.S144N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75832881G>A" "" "VUS" "" "0000338734" "0" "10" "6" "76545684" "76545684" "subst" "0.118182" "02327" "MYO6_000064" "g.76545684T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75835967T>C" "" "benign" "" "0000338735" "0" "10" "6" "76596728" "76596728" "subst" "0.250282" "02327" "MYO6_000050" "g.76596728C>T" "" "" "" "MYO6(NM_004999.4):c.2658+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75887011C>T" "" "benign" "" "0000338736" "0" "10" "6" "76624741" "76624741" "subst" "0.251435" "02327" "MYO6_000058" "g.76624741C>T" "" "" "" "MYO6(NM_004999.4):c.*12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75915024C>T" "" "benign" "" "0000340442" "0" "10" "6" "76564953" "76564953" "subst" "0.0160378" "02327" "MYO6_000066" "g.76564953A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75855236A>G" "" "benign" "" "0000340443" "0" "10" "6" "76576290" "76576290" "subst" "0.0512798" "02327" "MYO6_000069" "g.76576290C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75866573C>T" "" "benign" "" "0000341248" "0" "50" "6" "76550332" "76550332" "subst" "0" "02327" "MYO6_000038" "g.76550332C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75840615C>A" "" "VUS" "" "0000341504" "0" "50" "6" "76576321" "76576321" "subst" "0" "02327" "MYO6_000070" "g.76576321G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75866604G>T" "" "VUS" "" "0000341566" "0" "30" "6" "76538281" "76538281" "subst" "0" "02327" "MYO6_000061" "g.76538281C>T" "" "" "" "MYO6(NM_004999.3):c.212C>T (p.A71V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75828564C>T" "" "likely benign" "" "0000341786" "0" "90" "6" "76623950" "76623950" "subst" "4.06141E-6" "02327" "MYO6_000017" "g.76623950C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75914233C>T" "" "pathogenic" "" "0000343230" "0" "50" "6" "76582939" "76582939" "subst" "4.06415E-6" "02327" "MYO6_000071" "g.76582939C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75873222C>T" "" "VUS" "" "0000343499" "0" "50" "6" "76599933" "76599933" "subst" "0.000109841" "02327" "MYO6_000073" "g.76599933C>T" "" "" "" "MYO6(NM_004999.4):c.2818C>T (p.R940C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75890216C>T" "" "VUS" "" "0000343559" "0" "50" "6" "76617414" "76617414" "subst" "5.70177E-5" "02327" "MYO6_000076" "g.76617414A>G" "" "" "" "MYO6(NM_004999.4):c.3269A>G (p.N1090S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75907697A>G" "" "VUS" "" "0000343874" "0" "50" "6" "76617371" "76617371" "subst" "4.06468E-6" "02327" "MYO6_000075" "g.76617371G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75907654G>C" "" "VUS" "" "0000343897" "0" "10" "6" "76624538" "76624538" "subst" "0.0105954" "02327" "MYO6_000056" "g.76624538G>A" "" "" "" "MYO6(NM_004999.3):c.3667G>A (p.D1223N, p.(Asp1223Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75914821G>A" "" "benign" "" "0000345592" "0" "90" "6" "76599876" "76599876" "subst" "4.06656E-6" "02327" "MYO6_000072" "g.76599876G>T" "" "" "" "MYO6(NM_004999.3):c.2761G>T (p.E921*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75890159G>T" "" "pathogenic" "" "0000348047" "0" "50" "6" "76566886" "76566886" "subst" "0" "02327" "MYO6_000067" "g.76566886T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75857169T>G" "" "VUS" "" "0000348160" "0" "30" "6" "76623977" "76623977" "subst" "4.4674E-5" "02327" "MYO6_000055" "g.76623977C>T" "" "" "" "MYO6(NM_004999.3):c.3637C>T (p.P1213S, p.(Pro1213Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75914260C>T" "" "likely benign" "" "0000348161" "0" "30" "6" "76623980" "76623980" "subst" "4.06134E-6" "02327" "MYO6_000077" "g.76623980C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75914263C>T" "" "likely benign" "" "0000348169" "0" "50" "6" "76540244" "76540244" "subst" "0" "02327" "MYO6_000062" "g.76540244C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75830527C>T" "" "VUS" "" "0000348740" "0" "90" "6" "76542624" "76542624" "subst" "0" "02327" "MYO6_000063" "g.76542624T>C" "" "" "" "MYO6(NM_004999.4):c.457T>C (p.S153P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75832907T>C" "" "pathogenic" "" "0000349083" "0" "50" "6" "76572383" "76572383" "subst" "0" "02327" "MYO6_000068" "g.76572383T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75862666T>G" "" "VUS" "" "0000349163" "0" "10" "6" "76633385" "76633385" "subst" "0.191176" "02327" "IMPG1_000001" "g.76633385C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75923668C>T" "" "benign" "" "0000350769" "0" "90" "6" "76570813" "76570813" "subst" "0" "02327" "MYO6_000030" "g.76570813G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75861096G>T" "" "pathogenic" "" "0000351366" "0" "90" "6" "76538256" "76538256" "subst" "0" "02327" "MYO6_000060" "g.76538256G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75828539G>A" "" "pathogenic" "" "0000366962" "0" "75" "6" "76527290" "76527290" "subst" "0.000134036" "02416" "MYO6_000023" "g.76527290C>T" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "heterozygous, {MSV3dQ9UM54:p.Ala9Val}" "Germline" "" "rs199508553" "0" "" "" "g.75817573C>T" "" "VUS" "ACMG" "0000366963" "3" "99" "6" "76527300" "76527300" "dup" "0" "02416" "MYO6_000002" "g.76527300dup" "0/200 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "36-37insT" "homozygous" "Germline" "" "" "0" "" "" "g.75817583dup" "" "pathogenic" "" "0000366964" "3" "99" "6" "76527300" "76527300" "dup" "0" "02416" "MYO6_000002" "g.76527300dup" "0/200 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "36-37insT" "homozygous" "Germline" "" "" "0" "" "" "g.75817583dup" "" "pathogenic" "" "0000366965" "3" "99" "6" "76527300" "76527300" "dup" "0" "02416" "MYO6_000002" "g.76527300dup" "0/200 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "36-37insT" "homozygous" "Germline" "" "" "0" "" "" "g.75817583dup" "" "pathogenic" "" "0000366966" "3" "99" "6" "76527300" "76527300" "dup" "0" "02416" "MYO6_000002" "g.76527300dup" "0/200 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "36-37insT" "homozygous" "Germline" "" "" "0" "" "" "g.75817583dup" "" "pathogenic" "" "0000366967" "3" "99" "6" "76527300" "76527300" "dup" "0" "02416" "MYO6_000002" "g.76527300dup" "0/200 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "36-37insT" "homozygous" "Germline" "" "" "0" "" "" "g.75817583dup" "" "pathogenic" "" "0000366968" "3" "99" "6" "76527300" "76527300" "dup" "0" "02416" "MYO6_000002" "g.76527300dup" "0/200 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "36-37insT" "homozygous" "Germline" "" "" "0" "" "" "g.75817583dup" "" "pathogenic" "" "0000366969" "21" "99" "6" "76550301" "76550301" "subst" "0" "02416" "MYO6_000020" "g.76550301G>A" "0/180 controls" "{PMID:Volk et al., 2013:23635807}" "" "splice mutation" "Heterozygous" "Germline" "" "" "0" "" "" "g.75840584G>A" "" "pathogenic" "" "0000366970" "21" "99" "6" "76550301" "76550301" "subst" "0" "02416" "MYO6_000020" "g.76550301G>A" "0/180 controls" "{PMID:Volk et al., 2013:23635807}" "" "splice mutation" "Heterozygous" "Germline" "" "" "0" "" "" "g.75840584G>A" "" "pathogenic" "" "0000366971" "10" "99" "6" "76550301" "76550301" "subst" "0" "02416" "MYO6_000020" "g.76550301G>A" "0/180 controls" "{PMID:Volk et al., 2013:23635807}" "" "splice mutation" "Heterozygous" "Germline" "" "" "0" "" "" "g.75840584G>A" "" "pathogenic" "" "0000366972" "10" "99" "6" "76550301" "76550301" "subst" "0" "02416" "MYO6_000020" "g.76550301G>A" "0/180 controls" "{PMID:Volk et al., 2013:23635807}" "" "splice mutation" "Heterozygous" "Germline" "" "" "0" "" "" "g.75840584G>A" "" "pathogenic" "" "0000366973" "10" "99" "6" "76550301" "76550301" "subst" "0" "02416" "MYO6_000020" "g.76550301G>A" "0/180 controls" "{PMID:Volk et al., 2013:23635807}" "" "splice mutation" "Heterozygous" "Germline" "" "" "0" "" "" "g.75840584G>A" "" "pathogenic" "" "0000366974" "10" "99" "6" "76550301" "76550301" "subst" "0" "02416" "MYO6_000020" "g.76550301G>A" "0/180 controls" "{PMID:Volk et al., 2013:23635807}" "" "splice mutation" "Heterozygous" "Germline" "" "" "0" "" "" "g.75840584G>A" "" "pathogenic" "" "0000366975" "10" "99" "6" "76550361" "76550361" "subst" "4.06441E-6" "02416" "MYO6_000016" "g.76550361C>T" "" "{PMID:Choi et al., 2013:23990876}" "" "" "Heterozygous" "Germline" "" "rs557441143" "0" "" "" "g.75840644C>T" "" "pathogenic" "" "0000366976" "10" "99" "6" "76550361" "76550361" "subst" "4.06441E-6" "02416" "MYO6_000016" "g.76550361C>T" "" "{PMID:Choi et al., 2013:23990876}" "" "" "Heterozygous" "Germline" "" "rs557441143" "0" "" "" "g.75840644C>T" "" "pathogenic" "" "0000366977" "10" "75" "6" "76550362" "76550362" "subst" "0" "02416" "MYO6_000009" "g.76550362G>A" "1/144 controls" "{PMID:Miyagawa et al., 2013:23967202}" "" "" "heterozygous, {MSV3dQ9UM54:p.(Arg205Gln)}" "Germline" "" "" "0" "" "" "g.75840645G>A" "" "VUS" "ACMG" "0000366978" "20" "75" "6" "76550362" "76550362" "subst" "0" "02416" "MYO6_000009" "g.76550362G>A" "0/200 controls" "{PMID:Kwon et al., 2014:25080041}" "" "" "heterozygous, {MSV3dQ9UM54:p.(Arg205Gln)}" "Germline" "" "" "0" "" "" "g.75840645G>A" "" "VUS" "ACMG" "0000366979" "3" "75" "6" "76550395" "76550395" "subst" "0.000338055" "02416" "MYO6_000004" "g.76550395A>T" "0/540 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "" "homozygous, {MSV3dQ9UM54:p.Glu216Val}" "Germline" "" "rs121912559" "0" "" "" "g.75840678A>T" "" "VUS" "ACMG" "0000366980" "0" "75" "6" "76551013" "76551013" "subst" "0" "02416" "MYO6_000021" "g.76551013A>G" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "heterozygous, {MSV3dQ9UM54:p.(Tyr245Cys)}" "Germline" "" "" "0" "" "" "g.75841296A>G" "" "VUS" "ACMG" "0000366981" "0" "75" "6" "76551016" "76551016" "subst" "4.06848E-6" "02416" "MYO6_000005" "g.76551016A>G" "0/702 controls" "{PMID:Mohiddin et al., 2004:15060111}" "" "" "heterozygous, {MSV3dQ9UM54:p.His246Arg}" "Germline" "" "rs121912560" "0" "" "" "g.75841299A>G" "" "VUS" "ACMG" "0000366982" "0" "99" "6" "76551016" "76551016" "subst" "4.06848E-6" "02416" "MYO6_000005" "g.76551016A>G" "0/702 controls" "{PMID:Mohiddin et al., 2004:15060111}" "" "" "heterozygous, {MSV3dQ9UM54:p.His246Arg}" "Germline" "" "rs121912560" "0" "" "" "g.75841299A>G" "" "VUS" "ACMG" "0000366983" "0" "99" "6" "76551016" "76551016" "subst" "4.06848E-6" "02416" "MYO6_000005" "g.76551016A>G" "0/702 controls" "{PMID:Mohiddin et al., 2004:15060111}" "" "" "heterozygous, {MSV3dQ9UM54:p.His246Arg}" "Germline" "" "rs121912560" "0" "" "" "g.75841299A>G" "" "VUS" "ACMG" "0000366984" "0" "99" "6" "76551016" "76551016" "subst" "4.06848E-6" "02416" "MYO6_000005" "g.76551016A>G" "0/702 controls" "{PMID:Mohiddin et al., 2004:15060111}" "" "" "heterozygous, {MSV3dQ9UM54:p.His246Arg}" "Germline" "" "rs121912560" "0" "" "" "g.75841299A>G" "" "VUS" "ACMG" "0000366985" "0" "99" "6" "76551016" "76551016" "subst" "4.06848E-6" "02416" "MYO6_000005" "g.76551016A>G" "0/702 controls" "{PMID:Mohiddin et al., 2004:15060111}" "" "" "heterozygous, {MSV3dQ9UM54:p.His246Arg}" "Germline" "" "rs121912560" "0" "" "" "g.75841299A>G" "" "VUS" "ACMG" "0000366986" "0" "99" "6" "76551016" "76551016" "subst" "4.06848E-6" "02416" "MYO6_000005" "g.76551016A>G" "0/702 controls" "{PMID:Mohiddin et al., 2004:15060111}" "" "" "heterozygous, {MSV3dQ9UM54:p.His246Arg}" "Germline" "" "rs121912560" "0" "" "" "g.75841299A>G" "" "VUS" "ACMG" "0000366987" "0" "99" "6" "76551016" "76551016" "subst" "4.06848E-6" "02416" "MYO6_000005" "g.76551016A>G" "0/702 controls" "{PMID:Mohiddin et al., 2004:15060111}" "" "" "heterozygous, {MSV3dQ9UM54:p.His246Arg}" "Germline" "" "rs121912560" "0" "" "" "g.75841299A>G" "" "VUS" "ACMG" "0000366988" "0" "99" "6" "76551016" "76551016" "subst" "4.06848E-6" "02416" "MYO6_000005" "g.76551016A>G" "0/702 controls" "{PMID:Mohiddin et al., 2004:15060111}" "" "" "heterozygous, {MSV3dQ9UM54:p.His246Arg}" "Germline" "" "rs121912560" "0" "" "" "g.75841299A>G" "" "VUS" "ACMG" "0000366989" "0" "99" "6" "76551016" "76551016" "subst" "4.06848E-6" "02416" "MYO6_000005" "g.76551016A>G" "0/702 controls" "{PMID:Mohiddin et al., 2004:15060111}" "" "" "heterozygous, {MSV3dQ9UM54:p.His246Arg}" "Germline" "" "rs121912560" "0" "" "" "g.75841299A>G" "" "VUS" "ACMG" "0000366990" "0" "99" "6" "76551016" "76551016" "subst" "4.06848E-6" "02416" "MYO6_000005" "g.76551016A>G" "0/702 controls" "{PMID:Mohiddin et al., 2004:15060111}" "" "" "heterozygous, {MSV3dQ9UM54:p.His246Arg}" "Germline" "" "rs121912560" "0" "" "" "g.75841299A>G" "" "VUS" "ACMG" "0000366991" "0" "99" "6" "76554659" "76554662" "del" "0" "02416" "MYO6_000019" "g.76554659_76554662del" "0/270 controls" "{PMID:Shearer et al., 2010:21078986}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75844942_75844945del" "" "pathogenic" "" "0000366992" "3" "75" "6" "76554694" "76554694" "subst" "0" "02416" "MYO6_000010" "g.76554694G>T" "0/200 controls" "{PMID:Brownstein et al., 2014:24105371}" "" "splice mutation" "homozygous" "Germline" "" "" "0" "" "" "g.75844977G>T" "" "VUS" "ACMG" "0000366993" "11" "75" "6" "76554694" "76554694" "subst" "0" "02416" "MYO6_000010" "g.76554694G>T" "0/200 controls" "{PMID:Brownstein et al., 2014:24105371}" "" "splice mutation" "Heterozygous" "Germline" "" "" "0" "" "" "g.75844977G>T" "" "VUS" "ACMG" "0000366994" "11" "75" "6" "76554694" "76554694" "subst" "0" "02416" "MYO6_000010" "g.76554694G>T" "0/200 controls" "{PMID:Brownstein et al., 2014:24105371}" "" "splice mutation" "Heterozygous" "Germline" "" "" "0" "" "" "g.75844977G>T" "" "VUS" "ACMG" "0000366995" "11" "75" "6" "76554694" "76554694" "subst" "0" "02416" "MYO6_000010" "g.76554694G>T" "0/200 controls" "{PMID:Brownstein et al., 2014:24105371}" "" "splice mutation" "Heterozygous" "Germline" "" "" "0" "" "" "g.75844977G>T" "" "VUS" "ACMG" "0000366996" "0" "75" "6" "76554694" "76554694" "subst" "0" "02416" "MYO6_000010" "g.76554694G>T" "0/200 controls" "{PMID:Brownstein et al., 2014:24105371}" "" "splice mutation" "Heterozygous" "Germline" "" "" "0" "" "" "g.75844977G>T" "" "VUS" "ACMG" "0000366997" "0" "75" "6" "76558185" "76558185" "subst" "4.06402E-6" "02416" "MYO6_000022" "g.76558185C>T" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "heterozygous, {MSV3dQ9UM54:p.(Arg339Trp)}" "Germline" "" "" "0" "" "" "g.75848468C>T" "" "VUS" "ACMG" "0000366998" "21" "75" "6" "76566915" "76566915" "subst" "0" "02416" "MYO6_000001" "g.76566915G>A" "0/800 controls" "{PMID:Melchionda et al., 2001:11468689}" "" "" "heterozygous, {MSV3dQ9UM54:p.Cys442Tyr}" "Germline" "" "rs121912557" "0" "" "" "g.75857198G>A" "" "VUS" "ACMG" "0000366999" "21" "75" "6" "76566915" "76566915" "subst" "0" "02416" "MYO6_000001" "g.76566915G>A" "0/800 controls" "{PMID:Melchionda et al., 2001:11468689}" "" "" "heterozygous, {MSV3dQ9UM54:p.Cys442Tyr}" "Germline" "" "rs121912557" "0" "" "" "g.75857198G>A" "" "VUS" "ACMG" "0000367000" "21" "99" "6" "76566915" "76566915" "subst" "0" "02416" "MYO6_000001" "g.76566915G>A" "0/800 controls" "{PMID:Melchionda et al., 2001:11468689}" "" "" "heterozygous, {MSV3dQ9UM54:p.Cys442Tyr}" "Germline" "" "rs121912557" "0" "" "" "g.75857198G>A" "" "VUS" "ACMG" "0000367001" "21" "99" "6" "76566915" "76566915" "subst" "0" "02416" "MYO6_000001" "g.76566915G>A" "0/800 controls" "{PMID:Melchionda et al., 2001:11468689}" "" "" "heterozygous, {MSV3dQ9UM54:p.Cys442Tyr}" "Germline" "" "rs121912557" "0" "" "" "g.75857198G>A" "" "VUS" "ACMG" "0000367002" "21" "99" "6" "76566915" "76566915" "subst" "0" "02416" "MYO6_000001" "g.76566915G>A" "0/800 controls" "{PMID:Melchionda et al., 2001:11468689}" "" "" "heterozygous, {MSV3dQ9UM54:p.Cys442Tyr}" "Germline" "" "rs121912557" "0" "" "" "g.75857198G>A" "" "VUS" "ACMG" "0000367003" "21" "99" "6" "76566915" "76566915" "subst" "0" "02416" "MYO6_000001" "g.76566915G>A" "0/800 controls" "{PMID:Melchionda et al., 2001:11468689}" "" "" "heterozygous, {MSV3dQ9UM54:p.Cys442Tyr}" "Germline" "" "rs121912557" "0" "" "" "g.75857198G>A" "" "VUS" "ACMG" "0000367004" "21" "99" "6" "76566915" "76566915" "subst" "0" "02416" "MYO6_000001" "g.76566915G>A" "0/800 controls" "{PMID:Melchionda et al., 2001:11468689}" "" "" "heterozygous, {MSV3dQ9UM54:p.Cys442Tyr}" "Germline" "" "rs121912557" "0" "" "" "g.75857198G>A" "" "VUS" "ACMG" "0000367005" "10" "99" "6" "76566915" "76566915" "subst" "0" "02416" "MYO6_000001" "g.76566915G>A" "0/800 controls" "{PMID:Melchionda et al., 2001:11468689}" "" "" "heterozygous, {MSV3dQ9UM54:p.Cys442Tyr}" "Germline" "" "rs121912557" "0" "" "" "g.75857198G>A" "" "VUS" "ACMG" "0000367006" "10" "99" "6" "76566915" "76566915" "subst" "0" "02416" "MYO6_000001" "g.76566915G>A" "0/800 controls" "{PMID:Melchionda et al., 2001:11468689}" "" "" "heterozygous, {MSV3dQ9UM54:p.Cys442Tyr}" "Germline" "" "rs121912557" "0" "" "" "g.75857198G>A" "" "VUS" "ACMG" "0000367007" "11" "99" "6" "76580394" "76580394" "subst" "0" "02416" "MYO6_000008" "g.76580394C>T" "1/144 controls" "{PMID:Miyagawa et al., 2013:23967202}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75870677C>T" "" "pathogenic" "" "0000367008" "11" "99" "6" "76580394" "76580394" "subst" "0" "02416" "MYO6_000008" "g.76580394C>T" "1/144 controls" "{PMID:Miyagawa et al., 2013:23967202}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75870677C>T" "" "pathogenic" "" "0000367009" "0" "99" "6" "76580394" "76580394" "subst" "0" "02416" "MYO6_000008" "g.76580394C>T" "1/144 controls" "{PMID:Miyagawa et al., 2013:23967202}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75870677C>T" "" "pathogenic" "" "0000367010" "11" "99" "6" "76593963" "76593963" "subst" "0" "02416" "MYO6_000006" "g.76593963T>G" "0/278 controls" "{PMID:Hilgert 2008:18212818}" "" "IVS23+2321T>G" "" "Germline" "" "" "0" "" "" "g.75884246T>G" "" "pathogenic" "" "0000367011" "11" "99" "6" "76593963" "76593963" "subst" "0" "02416" "MYO6_000006" "g.76593963T>G" "0/278 controls" "{PMID:Hilgert 2008:18212818}" "" "IVS23+2321T>G" "" "Germline" "" "" "0" "" "" "g.75884246T>G" "" "pathogenic" "" "0000367012" "20" "99" "6" "76595777" "76595777" "subst" "0" "02416" "MYO6_000012" "g.76595777C>T" "0/200 controls" "{PMID:Kwon et al., 2014:25080041}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75886060C>T" "" "pathogenic" "" "0000367013" "20" "75" "6" "76596598" "76596598" "subst" "8.12592E-6" "02416" "MYO6_000007" "g.76596598C>T" "0/384 controls" "{PMID:Sanggaard et al., 2008:18348273}" "" "" "Heterozygous, significant phenotypic variation in the family" "Germline" "" "rs121912561" "0" "" "" "g.75886881C>T" "" "VUS" "ACMG" "0000367014" "10" "75" "6" "76596598" "76596598" "subst" "8.12592E-6" "02416" "MYO6_000007" "g.76596598C>T" "0/384 controls" "{PMID:Sanggaard et al., 2008:18348273}" "" "" "Heterozygous, significant phenotypic variation in the family" "Germline" "" "rs121912561" "0" "" "" "g.75886881C>T" "" "VUS" "ACMG" "0000367015" "20" "99" "6" "76599868" "76599868" "dup" "0" "02416" "MYO6_000014" "g.76599868dup" "0/200 controls" "{PMID:Kwon et al., 2014:25080041}" "" "2752insA and as p.Q918fs*941" "Heterozygous" "Germline" "" "" "0" "" "" "g.75890151dup" "" "pathogenic" "" "0000367016" "3" "75" "6" "76599892" "76599892" "subst" "0" "02416" "MYO6_000011" "g.76599892T>A" "0/200 controls" "{PMID:Brownstein et al., 2014:24105371}" "" "" "homozygous, {MSV3dQ9UM54:p.(Leu926Gln)}" "Germline" "" "" "0" "" "" "g.75890175T>A" "" "VUS" "ACMG" "0000367017" "3" "75" "6" "76599892" "76599892" "subst" "0" "02416" "MYO6_000011" "g.76599892T>A" "0/200 controls" "{PMID:Brownstein et al., 2014:24105371}" "" "" "homozygous, {MSV3dQ9UM54:p.(Leu926Gln)}" "Germline" "" "" "0" "" "" "g.75890175T>A" "" "VUS" "ACMG" "0000367018" "21" "99" "6" "76599929" "76599930" "del" "0" "02416" "MYO6_000018" "g.76599929_76599930del" "" "{PMID:Cheng et al., 2014:25227905}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75890212_75890213del" "" "pathogenic" "" "0000367019" "21" "99" "6" "76599929" "76599930" "del" "0" "02416" "MYO6_000018" "g.76599929_76599930del" "" "{PMID:Cheng et al., 2014:25227905}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75890212_75890213del" "" "pathogenic" "" "0000367020" "11" "99" "6" "76599929" "76599930" "del" "0" "02416" "MYO6_000018" "g.76599929_76599930del" "" "{PMID:Cheng et al., 2014:25227905}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75890212_75890213del" "" "pathogenic" "" "0000367021" "11" "99" "6" "76599929" "76599930" "del" "0" "02416" "MYO6_000018" "g.76599929_76599930del" "" "{PMID:Cheng et al., 2014:25227905}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75890212_75890213del" "" "pathogenic" "" "0000367022" "11" "99" "6" "76601021" "76601021" "subst" "0" "02416" "MYO6_000015" "g.76601021C>T" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75891304C>T" "" "pathogenic" "" "0000367023" "11" "99" "6" "76601021" "76601021" "subst" "0" "02416" "MYO6_000015" "g.76601021C>T" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75891304C>T" "" "pathogenic" "" "0000367024" "10" "99" "6" "76601021" "76601021" "subst" "0" "02416" "MYO6_000015" "g.76601021C>T" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75891304C>T" "" "pathogenic" "" "0000367025" "10" "99" "6" "76601021" "76601021" "subst" "0" "02416" "MYO6_000015" "g.76601021C>T" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75891304C>T" "" "pathogenic" "" "0000367026" "10" "99" "6" "76601021" "76601021" "subst" "0" "02416" "MYO6_000015" "g.76601021C>T" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75891304C>T" "" "pathogenic" "" "0000367027" "10" "99" "6" "76602271" "76602271" "subst" "0" "02416" "MYO6_000013" "g.76602271C>T" "0/200 controls" "{PMID:Kwon et al., 2014:25080041}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.75892554C>T" "" "pathogenic" "" "0000367028" "3" "99" "6" "76623836" "76623836" "subst" "0" "02416" "MYO6_000003" "g.76623836C>T" "0/200 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "" "homozygous" "Germline" "" "rs121912558" "0" "" "" "g.75914119C>T" "" "pathogenic" "" "0000367029" "3" "99" "6" "76623836" "76623836" "subst" "0" "02416" "MYO6_000003" "g.76623836C>T" "0/200 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "" "homozygous" "Germline" "" "rs121912558" "0" "" "" "g.75914119C>T" "" "pathogenic" "" "0000367030" "3" "99" "6" "76623836" "76623836" "subst" "0" "02416" "MYO6_000003" "g.76623836C>T" "0/200 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "" "homozygous" "Germline" "" "rs121912558" "0" "" "" "g.75914119C>T" "" "pathogenic" "" "0000367031" "3" "99" "6" "76623836" "76623836" "subst" "0" "02416" "MYO6_000003" "g.76623836C>T" "0/200 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "" "homozygous" "Germline" "" "rs121912558" "0" "" "" "g.75914119C>T" "" "pathogenic" "" "0000367032" "3" "99" "6" "76623836" "76623836" "subst" "0" "02416" "MYO6_000003" "g.76623836C>T" "0/200 controls" "{PMID:Ahmed et al., 2003:12687499}" "" "" "homozygous" "Germline" "" "rs121912558" "0" "" "" "g.75914119C>T" "" "pathogenic" "" "0000367033" "10" "75" "6" "76623950" "76623950" "subst" "4.06141E-6" "02416" "MYO6_000017" "g.76623950C>T" "0/362 controls" "{PMID:Oonk et al., 2013:23340379}" "" "" "heterozygous, {MSV3dQ9UM54:p.(Arg1204Trp)}" "Germline" "" "" "0" "" "" "g.75914233C>T" "" "VUS" "ACMG" "0000367034" "20" "75" "6" "76623950" "76623950" "subst" "4.06141E-6" "02416" "MYO6_000017" "g.76623950C>T" "0/362 controls" "{PMID:Oonk et al., 2013:23340379}" "" "" "heterozygous, {MSV3dQ9UM54:p.(Arg1204Trp)}" "Germline" "" "" "0" "" "" "g.75914233C>T" "" "VUS" "ACMG" "0000367035" "10" "75" "6" "76623950" "76623950" "subst" "4.06141E-6" "02416" "MYO6_000017" "g.76623950C>T" "0/362 controls" "{PMID:Oonk et al., 2013:23340379}" "" "" "heterozygous, {MSV3dQ9UM54:p.(Arg1204Trp)}" "Germline" "" "" "0" "" "" "g.75914233C>T" "" "VUS" "ACMG" "0000367036" "10" "75" "6" "76623950" "76623950" "subst" "4.06141E-6" "02416" "MYO6_000017" "g.76623950C>T" "0/362 controls" "{PMID:Oonk et al., 2013:23340379}" "" "" "heterozygous, {MSV3dQ9UM54:p.(Arg1204Trp)}" "Germline" "" "" "0" "" "" "g.75914233C>T" "" "VUS" "ACMG" "0000367037" "20" "75" "6" "76623950" "76623950" "subst" "4.06141E-6" "02416" "MYO6_000017" "g.76623950C>T" "0/362 controls" "{PMID:Oonk et al., 2013:23340379}" "" "" "heterozygous, {MSV3dQ9UM54:p.(Arg1204Trp)}" "Germline" "" "" "0" "" "" "g.75914233C>T" "" "VUS" "ACMG" "0000529831" "0" "70" "6" "76527301" "76527301" "del" "0" "02327" "MYO6_000078" "g.76527301del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75817584del" "" "likely pathogenic" "" "0000529832" "0" "50" "6" "76532559" "76532559" "subst" "1.21935E-5" "01943" "MYO6_000079" "g.76532559G>C" "" "" "" "MYO6(NM_004999.3):c.178G>C (p.E60Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75822842G>C" "" "VUS" "" "0000529833" "0" "50" "6" "76538281" "76538281" "subst" "0" "01943" "MYO6_000061" "g.76538281C>T" "" "" "" "MYO6(NM_004999.3):c.212C>T (p.A71V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75828564C>T" "" "VUS" "" "0000529834" "0" "90" "6" "76542623" "76542623" "del" "0" "02327" "MYO6_000080" "g.76542623del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75832906del" "" "pathogenic" "" "0000529836" "0" "30" "6" "76558195" "76558195" "subst" "0.00134907" "02327" "MYO6_000044" "g.76558195C>T" "" "" "" "MYO6(NM_004999.3):c.1025C>T (p.A342V), MYO6(NM_004999.4):c.1025C>T (p.A342V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75848478C>T" "" "likely benign" "" "0000529837" "0" "50" "6" "76576301" "76576301" "subst" "0" "01943" "MYO6_000081" "g.76576301T>A" "" "" "" "MYO6(NM_004999.3):c.1733T>A (p.I578N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75866584T>A" "" "VUS" "" "0000529838" "0" "90" "6" "76580394" "76580394" "subst" "0" "02327" "MYO6_000008" "g.76580394C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75870677C>T" "" "pathogenic" "" "0000529839" "0" "50" "6" "76595753" "76595753" "subst" "4.06616E-6" "02327" "MYO6_000082" "g.76595753T>G" "" "" "" "MYO6(NM_004999.3):c.2449T>G (p.(Cys817Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75886036T>G" "" "VUS" "" "0000529840" "0" "70" "6" "76596713" "76596713" "subst" "0" "02327" "MYO6_000083" "g.76596713T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75886996T>A" "" "likely pathogenic" "" "0000529841" "0" "90" "6" "76599876" "76599876" "subst" "4.06656E-6" "01943" "MYO6_000072" "g.76599876G>T" "" "" "" "MYO6(NM_004999.3):c.2761G>T (p.E921*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75890159G>T" "" "pathogenic" "" "0000529842" "0" "30" "6" "76599933" "76599933" "subst" "0.000109841" "02326" "MYO6_000073" "g.76599933C>T" "" "" "" "MYO6(NM_004999.4):c.2818C>T (p.R940C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75890216C>T" "" "likely benign" "" "0000529843" "0" "30" "6" "76599951" "76599951" "subst" "0.000748509" "01943" "MYO6_000084" "g.76599951C>T" "" "" "" "MYO6(NM_004999.3):c.2836C>T (p.R946C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75890234C>T" "" "likely benign" "" "0000529844" "0" "30" "6" "76599951" "76599951" "subst" "0.000748509" "02327" "MYO6_000084" "g.76599951C>T" "" "" "" "MYO6(NM_004999.3):c.2836C>T (p.R946C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75890234C>T" "" "likely benign" "" "0000529845" "0" "50" "6" "76602357" "76602357" "subst" "8.12367E-6" "02327" "MYO6_000085" "g.76602357T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75892640T>G" "" "VUS" "" "0000529846" "0" "50" "6" "76617410" "76617410" "subst" "0" "01943" "MYO6_000086" "g.76617410A>T" "" "" "" "MYO6(NM_004999.3):c.3265A>T (p.I1089F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75907693A>T" "" "VUS" "" "0000529847" "0" "50" "6" "76617414" "76617414" "subst" "5.70177E-5" "02326" "MYO6_000076" "g.76617414A>G" "" "" "" "MYO6(NM_004999.4):c.3269A>G (p.N1090S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75907697A>G" "" "VUS" "" "0000529848" "0" "30" "6" "76624687" "76624687" "subst" "8.15222E-6" "01943" "MYO6_000087" "g.76624687G>A" "" "" "" "MYO6(NM_004999.3):c.3816G>A (p.R1272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75914970G>A" "" "likely benign" "" "0000598536" "0" "77" "6" "76599969" "76599969" "dup" "0" "02551" "MYO6_000088" "g.76599969dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75890252dup" "" "likely pathogenic" "" "0000600829" "21" "95" "6" "76599890" "76599890" "subst" "1.21998E-5" "02476" "MYO6_000089" "g.76599890G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.75890173G>C" "" "likely pathogenic" "" "0000610516" "0" "50" "6" "76568635" "76568635" "subst" "0" "01943" "MYO6_000090" "g.76568635C>G" "" "" "" "MYO6(NM_004999.3):c.1398C>G (p.N466K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75858918C>G" "" "VUS" "" "0000610517" "0" "30" "6" "76576271" "76576271" "subst" "4.06151E-6" "02327" "MYO6_000091" "g.76576271A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75866554A>G" "" "likely benign" "" "0000610518" "0" "30" "6" "76576335" "76576335" "subst" "4.46813E-5" "02327" "MYO6_000092" "g.76576335A>G" "" "" "" "MYO6(NM_004999.3):c.1767A>G (p.E589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75866618A>G" "" "likely benign" "" "0000610519" "0" "30" "6" "76576781" "76576781" "subst" "1.22002E-5" "02327" "MYO6_000093" "g.76576781G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75867064G>A" "" "likely benign" "" "0000610520" "0" "50" "6" "76591464" "76591464" "subst" "0" "02327" "MYO6_000094" "g.76591464A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75881747A>G" "" "VUS" "" "0000610521" "0" "30" "6" "76596625" "76596625" "subst" "0" "02327" "MYO6_000095" "g.76596625A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75886908A>C" "" "likely benign" "" "0000610522" "0" "50" "6" "76599904" "76599904" "subst" "0" "02327" "MYO6_000096" "g.76599904A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75890187A>C" "" "VUS" "" "0000610523" "0" "50" "6" "76608128" "76608128" "subst" "0.000199093" "02327" "MYO6_000097" "g.76608128G>C" "" "" "" "MYO6(NM_004999.3):c.3176G>C (p.R1059T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75898411G>C" "" "VUS" "" "0000610524" "0" "50" "6" "76624685" "76624685" "subst" "1.62889E-5" "02327" "MYO6_000098" "g.76624685C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75914968C>T" "" "VUS" "" "0000610525" "0" "50" "6" "76624722" "76624722" "dup" "0" "02327" "MYO6_000100" "g.76624722dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75915005dup" "" "VUS" "" "0000621770" "0" "50" "6" "76624700" "76624700" "subst" "0" "01943" "MYO6_000099" "g.76624700A>G" "" "" "" "MYO6(NM_004999.3):c.3829A>G (p.T1277A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75914983A>G" "" "VUS" "" "0000652062" "1" "70" "6" "76538307" "76538307" "subst" "0" "03575" "MYO6_000102" "g.76538307C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs727504567}" "Germline" "" "rs727504567" "0" "" "" "g.75828590C>T" "" "likely pathogenic" "" "0000652063" "1" "50" "6" "76618299" "76618299" "subst" "5.68694E-5" "03575" "MYO6_000103" "g.76618299A>G" "2/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs189411232}" "Germline" "" "rs189411232" "0" "" "" "g.75908582A>G" "" "VUS" "" "0000652064" "1" "30" "6" "76624538" "76624538" "subst" "0.0105954" "03575" "MYO6_000056" "g.76624538G>A" "38/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "38 heterozygous; {DB:CLININrs41269323}" "Germline" "" "rs41269323" "0" "" "" "g.75914821G>A" "" "likely benign" "" "0000652065" "1" "10" "6" "76628176" "76628176" "subst" "0" "03575" "MYO6_000104" "g.76628176A>C" "132/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "132 heterozygous; {DB:CLININexm2262171}" "Germline" "" "" "0" "" "" "g.75918459A>C" "" "benign" "" "0000655662" "0" "90" "6" "76542573" "76542573" "subst" "4.06388E-6" "02327" "MYO6_000105" "g.76542573C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75832856C>T" "" "pathogenic" "" "0000655663" "0" "70" "6" "76591540" "76591540" "subst" "0" "02327" "MYO6_000106" "g.76591540G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75881823G>A" "" "likely pathogenic" "" "0000655664" "0" "70" "6" "76599866" "76599866" "dup" "0" "02327" "MYO6_000107" "g.76599866dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75890149dup" "" "likely pathogenic" "" "0000655665" "0" "50" "6" "76624539" "76624539" "subst" "4.06243E-6" "02327" "MYO6_000108" "g.76624539A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75914822A>G" "" "VUS" "" "0000669935" "3" "30" "6" "76624538" "76624538" "subst" "0.0105954" "03575" "MYO6_000056" "g.76624538G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs41269323}" "Germline" "" "rs41269323" "0" "" "" "g.75914821G>A" "" "likely benign" "" "0000669936" "3" "10" "6" "76628176" "76628176" "subst" "0" "03575" "MYO6_000104" "g.76628176A>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININexm2262171}" "Germline" "" "" "0" "" "" "g.75918459A>C" "" "benign" "" "0000677890" "0" "50" "6" "76566890" "76566890" "subst" "0" "01943" "MYO6_000109" "g.76566890C>G" "" "" "" "MYO6(NM_004999.3):c.1300C>G (p.H434D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677891" "0" "50" "6" "76618311" "76618311" "subst" "3.24965E-5" "01943" "MYO6_000110" "g.76618311G>A" "" "" "" "MYO6(NM_004999.3):c.3379G>A (p.E1127K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689806" "0" "50" "6" "76538283" "76538283" "subst" "4.07047E-6" "02327" "MYO6_000111" "g.76538283A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689807" "0" "50" "6" "76566876" "76566876" "subst" "0" "02327" "MYO6_000112" "g.76566876G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689808" "0" "30" "6" "76566937" "76566937" "subst" "1.21931E-5" "02326" "MYO6_000113" "g.76566937C>T" "" "" "" "MYO6(NM_004999.4):c.1347C>T (p.S449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689809" "0" "30" "6" "76602288" "76602288" "subst" "0" "01943" "MYO6_000114" "g.76602288A>G" "" "" "" "MYO6(NM_004999.3):c.2988A>G (p.E996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000712230" "0" "50" "6" "76550946" "76550946" "subst" "0" "03611" "MYO6_000115" "g.76550946G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.75841229G>A" "" "VUS" "ACMG" "0000712233" "0" "90" "6" "76600972" "76600972" "del" "0" "03611" "MYO6_000116" "g.76600972del" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "2895delA" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.75891255del" "" "likely pathogenic (dominant)" "ACMG" "0000712241" "0" "50" "6" "76542640" "76542640" "subst" "0" "03611" "MYO6_000117" "g.76542640C>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.75832923C>G" "" "VUS" "ACMG" "0000712244" "0" "70" "6" "76580378" "76580378" "del" "0" "03611" "MYO6_000118" "g.76580378del" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "1959delG" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.75870661del" "" "likely pathogenic (recessive)" "ACMG" "0000712280" "0" "50" "6" "76566848" "76566848" "subst" "8.1277E-6" "03611" "MYO6_000119" "g.76566848C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PM3_P, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.75857131C>T" "" "VUS" "ACMG" "0000712281" "0" "90" "6" "76623836" "76623836" "subst" "0" "03611" "MYO6_000003" "g.76623836C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PVS1, PM2, PM3, PP1" "Germline/De novo (untested)" "" "" "0" "" "" "g.75914119C>T" "" "pathogenic (dominant)" "ACMG" "0000721104" "0" "50" "6" "76542624" "76542624" "subst" "0" "02329" "MYO6_000063" "g.76542624T>C" "" "" "" "MYO6(NM_004999.4):c.457T>C (p.S153P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721105" "0" "50" "6" "76608128" "76608128" "subst" "0.000199093" "01943" "MYO6_000097" "g.76608128G>C" "" "" "" "MYO6(NM_004999.3):c.3176G>C (p.R1059T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721106" "0" "90" "6" "76624565" "76624565" "del" "0" "02327" "MYO6_000121" "g.76624565del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000736286" "11" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Sampaio-Silva et al., 2018:29044474}" "" "" "plus 12 affected family members tested." "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736288" "21" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "" "" "" "plus 12 affected family members tested" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736289" "0" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Sampaio-Silva et al., 2018:29044474}" "" "" "plus 12 affedted family members" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736290" "21" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Sampaio-Silva et al., 2018:29044474}" "" "" "plus 12 affected family members tested" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736291" "21" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Sampaio-Silva et al., 2018:29044474}" "" "" "plus 12 affected family members tested" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736292" "11" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Dantas 2018:29880844}" "" "" "plus 12 affected family members tested" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736293" "21" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Sampaio-Silva et al., 2018:29044474}" "" "" "plus 12 affected family members tested" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736295" "21" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Sampaio-Silva 2018:29044474}" "" "" "plus 12 affected family members tested" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736296" "21" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Sampaio-Silva et al., 2018:29044474}" "" "" "plus 12 affected family members tested" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736300" "11" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Sampaio-Silva et al., 2018:29044474}" "" "" "plus 12 affected family members tested" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736303" "21" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Sampaio-Silva et al., 2018:29044474}" "" "" "plus 12 affected family members tested" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736304" "11" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Sampaio-Silva et al., 2018:29044474}" "" "" "plus 12 affected family members tested" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000736306" "11" "70" "6" "76599832" "76599832" "subst" "0" "04006" "MYO6_000122" "g.76599832C>A" "" "{PMID:Sampaio-Silva et al., 2018:29044474}" "" "" "plus 12 affected family members tested" "Germline" "yes" "rs1554218566" "0" "" "" "" "{CV:544693}" "pathogenic (dominant)" "ACMG" "0000796587" "0" "70" "6" "76602319" "76602319" "subst" "1.6245E-5" "03779" "MYO6_000123" "g.76602319C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs143152727" "0" "" "" "" "" "likely pathogenic" "" "0000802734" "0" "90" "6" "76564885" "76564885" "subst" "0" "02327" "MYO6_000124" "g.76564885C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802735" "0" "30" "6" "76564921" "76564921" "subst" "0.000443735" "01943" "MYO6_000125" "g.76564921G>A" "" "" "" "MYO6(NM_004999.3):c.1144G>A (p.D382N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802736" "0" "90" "6" "76572432" "76572432" "subst" "1.21879E-5" "01943" "MYO6_000126" "g.76572432C>T" "" "" "" "MYO6(NM_004999.3):c.1666C>T (p.R556*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802737" "0" "30" "6" "76576335" "76576335" "subst" "4.46813E-5" "01943" "MYO6_000092" "g.76576335A>G" "" "" "" "MYO6(NM_004999.3):c.1767A>G (p.E589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802738" "0" "30" "6" "76596570" "76596570" "subst" "0.000446933" "01943" "MYO6_000127" "g.76596570T>C" "" "" "" "MYO6(NM_004999.3):c.2517T>C (p.G839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802739" "0" "50" "6" "76624658" "76624658" "subst" "4.06319E-6" "01943" "MYO6_000128" "g.76624658C>T" "" "" "" "MYO6(NM_004999.3):c.3787C>T (p.Q1263*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802740" "0" "50" "6" "76624715" "76624716" "del" "0" "01943" "MYO6_000129" "g.76624715_76624716del" "" "" "" "MYO6(NM_004999.3):c.3844_3845delAG (p.L1283Vfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802741" "0" "50" "6" "76633383" "76633383" "subst" "0" "01943" "IMPG1_000068" "g.76633383C>G" "" "" "" "IMPG1(NM_001563.3):c.2284G>C (p.V762L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000813830" "0" "50" "6" "76542642" "76542642" "subst" "0.000459223" "03779" "MYO6_000130" "g.76542642G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs201507590" "0" "" "" "" "" "VUS" "" "0000815662" "0" "50" "6" "76618263" "76618263" "subst" "0" "01164" "MYO6_000131" "g.76618263G>A" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000839647" "0" "50" "6" "76618299" "76618299" "subst" "5.68694E-5" "03779" "MYO6_000103" "g.76618299A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs189411232" "0" "" "" "" "" "VUS" "" "0000851322" "0" "50" "6" "76566845" "76566845" "subst" "0" "02327" "MYO6_000133" "g.76566845G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860514" "0" "50" "6" "76542579" "76542579" "subst" "8.12526E-6" "01943" "MYO6_000132" "g.76542579A>G" "" "" "" "MYO6(NM_004999.3):c.412A>G (p.M138V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860515" "0" "50" "6" "76572373" "76572373" "subst" "4.06332E-6" "02327" "MYO6_000134" "g.76572373C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860516" "0" "50" "6" "76623846" "76623846" "subst" "2.43665E-5" "01943" "MYO6_000135" "g.76623846G>A" "" "" "" "MYO6(NM_004999.3):c.3506G>A (p.R1169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860517" "0" "30" "6" "76624005" "76624005" "subst" "4.06174E-6" "01943" "MYO6_000136" "g.76624005A>T" "" "" "" "MYO6(NM_004999.3):c.3658+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887465" "0" "90" "6" "76572432" "76572432" "subst" "1.21879E-5" "02327" "MYO6_000126" "g.76572432C>T" "" "" "" "MYO6(NM_004999.3):c.1666C>T (p.R556*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887466" "0" "50" "6" "76582942" "76582942" "subst" "0" "02327" "MYO6_000137" "g.76582942T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887467" "0" "50" "6" "76599819" "76599819" "subst" "0" "02325" "MYO6_000138" "g.76599819C>G" "" "" "" "MYO6(NM_004999.4):c.2704C>G (p.L902V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887468" "0" "70" "6" "76601028" "76601028" "subst" "0" "02327" "MYO6_000139" "g.76601028G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887469" "0" "30" "6" "76623819" "76623819" "subst" "4.06111E-6" "02327" "MYO6_000140" "g.76623819G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912583" "0" "50" "6" "76558213" "76558213" "subst" "4.06507E-6" "02327" "MYO6_000141" "g.76558213G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912584" "0" "50" "6" "76566849" "76566849" "subst" "0" "02327" "MYO6_000142" "g.76566849G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912585" "0" "70" "6" "76589536" "76589536" "subst" "0" "02327" "MYO6_000143" "g.76589536G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912586" "0" "50" "6" "76623951" "76623951" "subst" "1.21842E-5" "02327" "MYO6_000144" "g.76623951G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921777" "0" "50" "6" "76551085" "76551085" "subst" "0" "03779" "MYO6_000145" "g.76551085A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000929244" "0" "30" "6" "76558136" "76558136" "subst" "4.87583E-5" "02327" "MYO6_000146" "g.76558136G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929245" "0" "50" "6" "76558200" "76558200" "subst" "0.000459249" "02327" "MYO6_000147" "g.76558200G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944337" "0" "90" "6" "76554663" "76554666" "del" "0" "00006" "MYO6_000065" "g.76554663_76554666del" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75844946_75844949del" "" "pathogenic (dominant)" "" "0000944338" "0" "70" "6" "76568702" "76568702" "subst" "0" "00006" "MYO6_000149" "g.76568702C>G" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75858985C>G" "" "likely pathogenic (dominant)" "" "0000944339" "0" "70" "6" "76576804" "76576804" "subst" "0" "00006" "MYO6_000151" "g.76576804C>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75867087C>A" "" "likely pathogenic (dominant)" "" "0000944340" "0" "70" "6" "76624662" "76624662" "del" "0" "00006" "MYO6_000152" "g.76624662del" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75914945del" "" "likely pathogenic (dominant)" "" "0000944368" "0" "70" "6" "76568652" "76568652" "subst" "0" "00006" "MYO6_000148" "g.76568652G>C" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75858935G>C" "" "likely pathogenic (dominant)" "" "0000944369" "0" "90" "6" "76602271" "76602271" "subst" "0" "00006" "MYO6_000013" "g.76602271C>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.75892554C>T" "" "pathogenic (dominant)" "" "0000944517" "3" "90" "6" "76576297" "76576309" "del" "0" "00006" "MYO6_000150" "g.76576297_76576309del" "" "{PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.75866580_75866592del" "" "pathogenic (recessive)" "" "0000960207" "0" "70" "6" "76599866" "76599866" "del" "0" "00006" "MYO6_000153" "g.76599866del" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "2751delA" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.75890149del" "" "likely pathogenic (recessive)" "" "0000960209" "0" "50" "6" "76623950" "76623950" "subst" "4.06141E-6" "00006" "MYO6_000017" "g.76623950C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PP1, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.75914233C>T" "" "VUS" "" "0000964262" "0" "90" "6" "76595740" "76595740" "subst" "0" "02327" "MYO6_000154" "g.76595740T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977371" "0" "70" "6" "76570745" "76570746" "ins" "0" "02327" "MYO6_000155" "g.76570745_76570746insTCCTAAAATGATTATTTCATTTTAG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995904" "0" "30" "6" "76558228" "76558228" "subst" "2.03288E-5" "01804" "MYO6_000156" "g.76558228A>T" "" "" "" "MYO6(NM_004999.3):c.1058A>T (p.(Glu353Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995905" "0" "50" "6" "76595753" "76595753" "subst" "4.06616E-6" "01804" "MYO6_000082" "g.76595753T>G" "" "" "" "MYO6(NM_004999.3):c.2449T>G (p.(Cys817Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995906" "0" "50" "6" "76623977" "76623977" "subst" "4.4674E-5" "01804" "MYO6_000055" "g.76623977C>T" "" "" "" "MYO6(NM_004999.3):c.3637C>T (p.P1213S, p.(Pro1213Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995907" "0" "30" "6" "76624538" "76624538" "subst" "0.0105954" "01804" "MYO6_000056" "g.76624538G>A" "" "" "" "MYO6(NM_004999.3):c.3667G>A (p.D1223N, p.(Asp1223Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001020003" "0" "70" "6" "76599866" "76599866" "dup" "0" "00006" "MYO6_000107" "g.76599866dup" "" "" "" "2743dupA" "" "Germline" "" "" "0" "" "" "g.75890149dup" "" "VUS" "" "0001025280" "0" "50" "6" "76550298" "76550298" "subst" "0" "01943" "MYO6_000157" "g.76550298A>G" "" "" "" "MYO6(NM_004999.3):c.554-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035928" "0" "50" "6" "76576793" "76576793" "subst" "0" "01804" "MYO6_000158" "g.76576793A>C" "" "" "" "MYO6(NM_004999.4):c.1915A>C (p.(Ser639Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044900" "1" "90" "6" "76624608" "76624608" "del" "0" "00006" "MYO6_000160" "g.76624608del" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "3736delC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.75914891del" "" "pathogenic" "" "0001044901" "1" "90" "6" "76576241" "76576241" "subst" "0" "00006" "MYO6_000159" "g.76576241A>C" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.75866524A>C" "" "pathogenic" "" "0001046967" "0" "50" "6" "76624706" "76624706" "subst" "0" "03779" "MYO6_000162" "g.76624706A>G" "" "" "" "" "" "Unknown" "" "rs1189188565" "0" "" "" "" "" "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 MYO6 ## Count = 253 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein/Domain}}" "0000021271" "00014181" "70" "1546" "1" "1546" "1" "c.1546+1G>T" "r.spl" "p.?" "15i" "" "0000021275" "00014181" "70" "1211" "0" "1211" "0" "c.1211del" "r.(?)" "p.(Gly404fs)" "12" "" "0000079546" "00014181" "00" "-2750123" "0" "194378" "0" "c.-2750123_*190520del" "r.0?" "p.0?" "" "" "0000089792" "00014181" "90" "1473" "0" "1473" "2" "c.1473_1473+2delinsC" "r.1382_1473del" "p.Glu461GlyfsTer13" "14_14i" "" "0000089948" "00014181" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Ser203Asn)" "8" "" "0000089949" "00014181" "50" "163" "0" "163" "0" "c.163A>G" "r.(?)" "p.(Ser55Gly)" "3" "" "0000089950" "00014181" "50" "2742" "0" "2743" "0" "c.2742_2743insGA" "r.(?)" "p.(Lys915Glufs*13)" "26" "" "0000089952" "00014181" "50" "2907" "0" "2909" "0" "c.2907_2909del" "r.(?)" "p.Glu967del" "27" "" "0000128833" "00014181" "70" "1546" "1" "1546" "1" "c.1546+1G>T" "r.spl" "p.?" "15i" "" "0000128960" "00014181" "70" "1211" "0" "1211" "0" "c.1211del" "r.(?)" "p.(Gly404Glufs*4)" "12" "" "0000128965" "00014181" "70" "3395" "0" "3395" "0" "c.3395del" "r.(?)" "p.(Lys1132Serfs*12)" "32" "" "0000128972" "00014181" "70" "584" "0" "584" "0" "c.584C>A" "r.(?)" "p.(Ala195Glu)" "8" "" "0000129041" "00014181" "70" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "34" "" "0000129047" "00014181" "70" "3335" "0" "3335" "0" "c.3335A>G" "r.(?)" "p.(Tyr1112Cys)" "32" "" "0000129048" "00014181" "70" "1897" "0" "1897" "0" "c.1897del" "r.(?)" "p.(Gln633Lysfs*19)" "18" "" "0000129184" "00014181" "50" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Ala91Thr)" "5" "" "0000254278" "00014181" "30" "3420" "0" "3420" "0" "c.3420A>G" "r.(?)" "p.(Ala1140=)" "" "" "0000255241" "00014181" "30" "1224" "-4" "1224" "-4" "c.1224-4A>G" "r.spl?" "p.?" "" "" "0000256357" "00014181" "50" "3791" "0" "3791" "0" "c.3791A>G" "r.(?)" "p.(Asn1264Ser)" "" "" "0000296244" "00014181" "10" "3870" "0" "3870" "0" "c.*12C>T" "r.(=)" "p.(=)" "" "" "0000296245" "00014181" "10" "2658" "17" "2658" "17" "c.2658+17C>T" "r.(=)" "p.(=)" "" "" "0000296246" "00014181" "10" "3108" "-375" "3108" "-375" "c.3108-375T>G" "r.(=)" "p.(=)" "" "" "0000299844" "00014181" "30" "1025" "0" "1025" "0" "c.1025C>T" "r.(?)" "p.(Ala342Val)" "" "" "0000299845" "00014181" "30" "2534" "0" "2534" "0" "c.2534C>T" "r.(?)" "p.(Thr845Ile)" "" "" "0000302711" "00014181" "30" "1025" "0" "1025" "0" "c.1025C>T" "r.(?)" "p.(Ala342Val)" "" "" "0000302712" "00014181" "50" "1220" "0" "1220" "0" "c.1220T>C" "r.(?)" "p.(Ile407Thr)" "" "" "0000302713" "00014181" "90" "1625" "0" "1626" "0" "c.1625_1626del" "r.(?)" "p.(His542LeufsTer22)" "" "" "0000302714" "00014181" "30" "1926" "0" "1926" "0" "c.1926C>T" "r.(?)" "p.(Ser642=)" "" "" "0000302715" "00014181" "30" "2534" "0" "2534" "0" "c.2534C>T" "r.(?)" "p.(Thr845Ile)" "" "" "0000302716" "00014181" "30" "2982" "0" "2982" "0" "c.2982G>A" "r.(?)" "p.(Glu994=)" "" "" "0000302717" "00014181" "10" "3333" "0" "3333" "0" "c.3333G>A" "r.(?)" "p.(Val1111=)" "" "" "0000302718" "00014181" "30" "3637" "0" "3637" "0" "c.3637C>T" "r.(?)" "p.(Pro1213Ser)" "" "" "0000302719" "00014181" "10" "3667" "0" "3667" "0" "c.3667G>A" "r.(?)" "p.(Asp1223Asn)" "" "" "0000302720" "00014181" "30" "406" "0" "406" "0" "c.406C>A" "r.(?)" "p.(Arg136=)" "" "" "0000302721" "00014181" "50" "431" "0" "431" "0" "c.431G>A" "r.(?)" "p.(Ser144Asn)" "" "" "0000338734" "00014181" "10" "553" "11" "553" "11" "c.553+11T>C" "r.(=)" "p.(=)" "" "" "0000338735" "00014181" "10" "2658" "17" "2658" "17" "c.2658+17C>T" "r.(=)" "p.(=)" "" "" "0000338736" "00014181" "10" "3870" "0" "3870" "0" "c.*12C>T" "r.(=)" "p.(=)" "" "" "0000340442" "00014181" "10" "1176" "0" "1176" "0" "c.1176A>G" "r.(?)" "p.(Thr392=)" "" "" "0000340443" "00014181" "10" "1722" "0" "1722" "0" "c.1722C>T" "r.(?)" "p.(Asp574=)" "" "" "0000341248" "00014181" "50" "584" "0" "584" "0" "c.584C>A" "r.(?)" "p.(Ala195Glu)" "" "" "0000341504" "00014181" "50" "1753" "0" "1753" "0" "c.1753G>T" "r.(?)" "p.(Ala585Ser)" "" "" "0000341566" "00014181" "30" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Ala71Val)" "" "" "0000341786" "00014181" "90" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "" "" "0000343230" "00014181" "50" "1999" "0" "1999" "0" "c.1999C>T" "r.(?)" "p.(Arg667Cys)" "" "" "0000343499" "00014181" "50" "2818" "0" "2818" "0" "c.2818C>T" "r.(?)" "p.(Arg940Cys)" "" "" "0000343559" "00014181" "50" "3269" "0" "3269" "0" "c.3269A>G" "r.(?)" "p.(Asn1090Ser)" "" "" "0000343874" "00014181" "50" "3226" "0" "3226" "0" "c.3226G>C" "r.(?)" "p.(Asp1076His)" "" "" "0000343897" "00014181" "10" "3667" "0" "3667" "0" "c.3667G>A" "r.(?)" "p.(Asp1223Asn)" "" "" "0000345592" "00014181" "90" "2761" "0" "2761" "0" "c.2761G>T" "r.(?)" "p.(Glu921Ter)" "" "" "0000348047" "00014181" "50" "1296" "0" "1296" "0" "c.1296T>G" "r.(?)" "p.(Phe432Leu)" "" "" "0000348160" "00014181" "30" "3637" "0" "3637" "0" "c.3637C>T" "r.(?)" "p.(Pro1213Ser)" "" "" "0000348161" "00014181" "30" "3640" "0" "3640" "0" "c.3640C>T" "r.(?)" "p.(Pro1214Ser)" "" "" "0000348169" "00014181" "50" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Pro125Ser)" "" "" "0000348740" "00014181" "90" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Ser153Pro)" "" "" "0000349083" "00014181" "50" "1617" "0" "1617" "0" "c.1617T>G" "r.(?)" "p.(Ser539Arg)" "" "" "0000349163" "00014181" "10" "12514" "0" "12514" "0" "c.*8656C>T" "r.(=)" "p.(=)" "" "" "0000350769" "00014181" "90" "1546" "1" "1546" "1" "c.1546+1G>T" "r.spl?" "p.?" "" "" "0000351366" "00014181" "90" "188" "-1" "188" "-1" "c.188-1G>A" "r.spl?" "p.?" "" "" "0000366962" "00014181" "75" "26" "0" "26" "0" "c.26C>T" "r.(=)" "p.(Ala9Val)" "2" "" "0000366963" "00014181" "99" "36" "0" "36" "0" "c.36dup" "r.(?)" "p.(Thr13Tyrfs*20)" "2" "" "0000366964" "00014181" "99" "36" "0" "36" "0" "c.36dup" "r.(?)" "p.(Thr13Tyrfs*20)" "2" "" "0000366965" "00014181" "99" "36" "0" "36" "0" "c.36dup" "r.(?)" "p.(Thr13Tyrfs*20)" "2" "" "0000366966" "00014181" "99" "36" "0" "36" "0" "c.36dup" "r.(?)" "p.(Thr13Tyrfs*20)" "2" "" "0000366967" "00014181" "99" "36" "0" "36" "0" "c.36dup" "r.(?)" "p.(Thr13Tyrfs*20)" "2" "" "0000366968" "00014181" "99" "36" "0" "36" "0" "c.36dup" "r.(?)" "p.(Thr13Tyrfs*20)" "2" "" "0000366969" "00014181" "99" "554" "-1" "554" "-1" "c.554-1G>A" "r.spl?" "p.?" "6i" "" "0000366970" "00014181" "99" "554" "-1" "554" "-1" "c.554-1G>A" "r.spl?" "p.?" "6i" "" "0000366971" "00014181" "99" "554" "-1" "554" "-1" "c.554-1G>A" "r.spl?" "p.?" "6i" "" "0000366972" "00014181" "99" "554" "-1" "554" "-1" "c.554-1G>A" "r.spl?" "p.?" "6i" "" "0000366973" "00014181" "99" "554" "-1" "554" "-1" "c.554-1G>A" "r.spl?" "p.?" "6i" "" "0000366974" "00014181" "99" "554" "-1" "554" "-1" "c.554-1G>A" "r.spl?" "p.?" "6i" "" "0000366975" "00014181" "99" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Arg205*)" "8" "Motor domain (57-771)" "0000366976" "00014181" "99" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Arg205*)" "8" "Motor domain (57-771)" "0000366977" "00014181" "75" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205Gln)" "8" "Motor domain (57-771)" "0000366978" "00014181" "75" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205Gln)" "8" "Motor domain (57-771)" "0000366979" "00014181" "75" "647" "0" "647" "0" "c.647A>T" "r.(?)" "p.(Glu216Val)" "8" "Motor domain (57-771)" "0000366980" "00014181" "75" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(Tyr245Cys)" "9" "Motor domain (57-771)" "0000366981" "00014181" "75" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(His246Arg)" "9" "Motor domain (57-771)" "0000366982" "00014181" "99" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(His246Arg)" "9" "Motor domain (57-771)" "0000366983" "00014181" "99" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(His246Arg)" "9" "Motor domain (57-771)" "0000366984" "00014181" "99" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(His246Arg)" "9" "Motor domain (57-771)" "0000366985" "00014181" "99" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(His246Arg)" "9" "Motor domain (57-771)" "0000366986" "00014181" "99" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(His246Arg)" "9" "Motor domain (57-771)" "0000366987" "00014181" "99" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(His246Arg)" "9" "Motor domain (57-771)" "0000366988" "00014181" "99" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(His246Arg)" "9" "Motor domain (57-771)" "0000366989" "00014181" "99" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(His246Arg)" "9" "Motor domain (57-771)" "0000366990" "00014181" "99" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(His246Arg)" "9" "Motor domain (57-771)" "0000366991" "00014181" "99" "862" "0" "865" "0" "c.862_865del" "r.(?)" "p.(Asp288Asnfs*18)" "10" "Motor domain (57-771)" "0000366992" "00014181" "75" "897" "0" "897" "0" "c.897G>T" "r.817_897del" "p.(Tyr273_Glu299del)" "10" "Motor domain (57-771)" "0000366993" "00014181" "75" "897" "0" "897" "0" "c.897G>T" "r.817_897del" "p.(Tyr273_Glu299del)" "10" "Motor domain (57-771)" "0000366994" "00014181" "75" "897" "0" "897" "0" "c.897G>T" "r.817_897del" "p.(Tyr273_Glu299del)" "10" "Motor domain (57-771)" "0000366995" "00014181" "75" "897" "0" "897" "0" "c.897G>T" "r.817_897del" "p.(Tyr273_Glu299del)" "10" "Motor domain (57-771)" "0000366996" "00014181" "75" "897" "0" "897" "0" "c.897G>T" "r.817_897del" "p.(Tyr273_Glu299del)" "10" "Motor domain (57-771)" "0000366997" "00014181" "75" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Trp)" "11" "Motor domain (57-771)" "0000366998" "00014181" "75" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Cys442Tyr)" "13" "Motor domain (57-771)" "0000366999" "00014181" "75" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Cys442Tyr)" "13" "Motor domain (57-771)" "0000367000" "00014181" "99" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Cys442Tyr)" "13" "Motor domain (57-771)" "0000367001" "00014181" "99" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Cys442Tyr)" "13" "Motor domain (57-771)" "0000367002" "00014181" "99" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Cys442Tyr)" "13" "Motor domain (57-771)" "0000367003" "00014181" "99" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Cys442Tyr)" "13" "Motor domain (57-771)" "0000367004" "00014181" "99" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Cys442Tyr)" "13" "Motor domain (57-771)" "0000367005" "00014181" "99" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Cys442Tyr)" "13" "Motor domain (57-771)" "0000367006" "00014181" "99" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Cys442Tyr)" "13" "Motor domain (57-771)" "0000367007" "00014181" "99" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Arg659*)" "19" "Motor domain (57-771)" "0000367008" "00014181" "99" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Arg659*)" "19" "Motor domain (57-771)" "0000367009" "00014181" "99" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Arg659*)" "19" "Motor domain (57-771)" "0000367010" "00014181" "99" "2417" "-1758" "2417" "-1758" "c.2417-1758T>G" "r.[=,2286_2287ins_2417-1876_2417-1759]" "p.?" "23i" "Motor domain (57-771)" "0000367011" "00014181" "99" "2417" "-1758" "2417" "-1758" "c.2417-1758T>G" "r.[=,2286_2287ins_2417-1876_2417-1759]" "p.?" "23i" "Motor domain (57-771)" "0000367012" "00014181" "99" "2473" "0" "2473" "0" "c.2473C>T" "r.(?)" "p.(Arg825*)" "24" "IQ (814-834)" "0000367013" "00014181" "75" "2545" "0" "2545" "0" "c.2545C>T" "r.(?)" "p.(Arg849*)" "25" "" "0000367014" "00014181" "75" "2545" "0" "2545" "0" "c.2545C>T" "r.(?)" "p.(Arg849*)" "25" "" "0000367015" "00014181" "99" "2753" "0" "2753" "0" "c.2753dup" "r.(?)" "p.(Gln919Alafs*23)" "26" "" "0000367016" "00014181" "75" "2777" "0" "2777" "0" "c.2777T>A" "r.(?)" "p.(Leu926Gln)" "26" "" "0000367017" "00014181" "75" "2777" "0" "2777" "0" "c.2777T>A" "r.(?)" "p.(Leu926Gln)" "26" "" "0000367018" "00014181" "99" "2814" "0" "2815" "0" "c.2814_2815del" "r.(?)" "p.(Arg939Thrfs*2)" "26" "" "0000367019" "00014181" "99" "2814" "0" "2815" "0" "c.2814_2815del" "r.(?)" "p.(Arg939Thrfs*2)" "26" "" "0000367020" "00014181" "99" "2814" "0" "2815" "0" "c.2814_2815del" "r.(?)" "p.(Arg939Thrfs*2)" "26" "" "0000367021" "00014181" "99" "2814" "0" "2815" "0" "c.2814_2815del" "r.(?)" "p.(Arg939Thrfs*2)" "26" "" "0000367022" "00014181" "99" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Gln982*)" "27" "Coiled coil (964-1023)" "0000367023" "00014181" "99" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Gln982*)" "27" "Coiled coil (964-1023)" "0000367024" "00014181" "99" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Gln982*)" "27" "Coiled coil (964-1023)" "0000367025" "00014181" "99" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Gln982*)" "27" "Coiled coil (964-1023)" "0000367026" "00014181" "99" "2944" "0" "2944" "0" "c.2944C>T" "r.(?)" "p.(Gln982*)" "27" "Coiled coil (964-1023)" "0000367027" "00014181" "99" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991*)" "28" "Coiled coil (964-1023)" "0000367028" "00014181" "99" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Arg1166*)" "33" "" "0000367029" "00014181" "99" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Arg1166*)" "33" "" "0000367030" "00014181" "99" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Arg1166*)" "33" "" "0000367031" "00014181" "99" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Arg1166*)" "33" "" "0000367032" "00014181" "99" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Arg1166*)" "33" "" "0000367033" "00014181" "75" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "34" "" "0000367034" "00014181" "75" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "34" "" "0000367035" "00014181" "75" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "34" "" "0000367036" "00014181" "75" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "34" "" "0000367037" "00014181" "75" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "34" "" "0000529831" "00014181" "70" "37" "0" "37" "0" "c.37del" "r.(?)" "p.(Thr13GlnfsTer17)" "" "" "0000529832" "00014181" "50" "178" "0" "178" "0" "c.178G>C" "r.(?)" "p.(Glu60Gln)" "" "" "0000529833" "00014181" "50" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Ala71Val)" "" "" "0000529834" "00014181" "90" "456" "0" "456" "0" "c.456del" "r.(?)" "p.(Glu152AspfsTer14)" "" "" "0000529836" "00014181" "30" "1025" "0" "1025" "0" "c.1025C>T" "r.(?)" "p.(Ala342Val)" "" "" "0000529837" "00014181" "50" "1733" "0" "1733" "0" "c.1733T>A" "r.(?)" "p.(Ile578Asn)" "" "" "0000529838" "00014181" "90" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Arg659Ter)" "" "" "0000529839" "00014181" "50" "2449" "0" "2449" "0" "c.2449T>G" "r.(?)" "p.(Cys817Gly)" "" "" "0000529840" "00014181" "70" "2658" "2" "2658" "2" "c.2658+2T>A" "r.spl?" "p.?" "" "" "0000529841" "00014181" "90" "2761" "0" "2761" "0" "c.2761G>T" "r.(?)" "p.(Glu921Ter)" "" "" "0000529842" "00014181" "30" "2818" "0" "2818" "0" "c.2818C>T" "r.(?)" "p.(Arg940Cys)" "" "" "0000529843" "00014181" "30" "2836" "0" "2836" "0" "c.2836C>T" "r.(?)" "p.(Arg946Cys)" "" "" "0000529844" "00014181" "30" "2836" "0" "2836" "0" "c.2836C>T" "r.(?)" "p.(Arg946Cys)" "" "" "0000529845" "00014181" "50" "3057" "0" "3057" "0" "c.3057T>G" "r.(?)" "p.(Ser1019Arg)" "" "" "0000529846" "00014181" "50" "3265" "0" "3265" "0" "c.3265A>T" "r.(?)" "p.(Ile1089Phe)" "" "" "0000529847" "00014181" "50" "3269" "0" "3269" "0" "c.3269A>G" "r.(?)" "p.(Asn1090Ser)" "" "" "0000529848" "00014181" "30" "3816" "0" "3816" "0" "c.3816G>A" "r.(?)" "p.(Arg1272=)" "" "" "0000598536" "00014181" "77" "2854" "0" "2854" "0" "c.2854dup" "r.(?)" "p.(Glu952Glyfs*8)" "" "" "0000600829" "00014181" "95" "2775" "0" "2775" "0" "c.2775G>C" "r.(?)" "p.(Arg925Ser)" "26" "" "0000610516" "00014181" "50" "1398" "0" "1398" "0" "c.1398C>G" "r.(?)" "p.(Asn466Lys)" "" "" "0000610517" "00014181" "30" "1703" "0" "1703" "0" "c.1703A>G" "r.(?)" "p.(His568Arg)" "" "" "0000610518" "00014181" "30" "1767" "0" "1767" "0" "c.1767A>G" "r.(?)" "p.(Glu589=)" "" "" "0000610519" "00014181" "30" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Ala635Thr)" "" "" "0000610520" "00014181" "50" "2345" "0" "2345" "0" "c.2345A>G" "r.(?)" "p.(Lys782Arg)" "" "" "0000610521" "00014181" "30" "2572" "0" "2572" "0" "c.2572A>C" "r.(?)" "p.(Ser858Arg)" "" "" "0000610522" "00014181" "50" "2789" "0" "2789" "0" "c.2789A>C" "r.(?)" "p.(Gln930Pro)" "" "" "0000610523" "00014181" "50" "3176" "0" "3176" "0" "c.3176G>C" "r.(?)" "p.(Arg1059Thr)" "" "" "0000610524" "00014181" "50" "3814" "0" "3814" "0" "c.3814C>T" "r.(?)" "p.(Arg1272Trp)" "" "" "0000610525" "00014181" "50" "3851" "0" "3851" "0" "c.3851dup" "r.(?)" "p.(Leu1284PhefsTer39)" "" "" "0000621770" "00014181" "50" "3829" "0" "3829" "0" "c.3829A>G" "r.(?)" "p.(Thr1277Ala)" "" "" "0000652062" "00014181" "70" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Arg80*)" "" "" "0000652063" "00014181" "50" "3367" "0" "3367" "0" "c.3367A>G" "r.(?)" "p.(Asn1123Asp)" "" "" "0000652064" "00014181" "30" "3667" "0" "3667" "0" "c.3667G>A" "r.(?)" "p.(Asp1223Asn)" "" "" "0000652065" "00014181" "10" "7305" "0" "7305" "0" "c.*3447A>C" "r.(=)" "p.(=)" "" "" "0000655662" "00014181" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136Ter)" "" "" "0000655663" "00014181" "70" "2416" "5" "2416" "5" "c.2416+5G>A" "r.spl?" "p.?" "" "" "0000655664" "00014181" "70" "2751" "0" "2751" "0" "c.2751dup" "r.(?)" "p.(Gln918ThrfsTer24)" "" "" "0000655665" "00014181" "50" "3668" "0" "3668" "0" "c.3668A>G" "r.(?)" "p.(Asp1223Gly)" "" "" "0000669935" "00014181" "30" "3667" "0" "3667" "0" "c.3667G>A" "r.(?)" "p.(Asp1223Asn)" "" "" "0000669936" "00014181" "10" "7305" "0" "7305" "0" "c.*3447A>C" "r.(=)" "p.(=)" "" "" "0000677890" "00014181" "50" "1300" "0" "1300" "0" "c.1300C>G" "r.(?)" "p.(His434Asp)" "" "" "0000677891" "00014181" "50" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Glu1127Lys)" "" "" "0000689806" "00014181" "50" "214" "0" "214" "0" "c.214A>G" "r.(?)" "p.(Thr72Ala)" "" "" "0000689807" "00014181" "50" "1286" "0" "1286" "0" "c.1286G>T" "r.(?)" "p.(Ser429Ile)" "" "" "0000689808" "00014181" "30" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Ser449=)" "" "" "0000689809" "00014181" "30" "2988" "0" "2988" "0" "c.2988A>G" "r.(?)" "p.(Glu996=)" "" "" "0000712230" "00014181" "50" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Arg)" "" "" "0000712233" "00014181" "90" "2895" "0" "2895" "0" "c.2895del" "r.(?)" "p.(Lys965Asnfs*50)" "" "" "0000712241" "00014181" "50" "473" "0" "473" "0" "c.473C>G" "r.(?)" "p.(Thr158Arg)" "" "" "0000712244" "00014181" "70" "1959" "0" "1959" "0" "c.1959del" "r.(?)" "p.(Leu653Phefs*21)" "" "" "0000712280" "00014181" "50" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Arg420Cys)" "" "" "0000712281" "00014181" "90" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Arg1166*)" "" "" "0000721104" "00014181" "50" "457" "0" "457" "0" "c.457T>C" "r.(?)" "p.(Ser153Pro)" "" "" "0000721105" "00014181" "50" "3176" "0" "3176" "0" "c.3176G>C" "r.(?)" "p.(Arg1059Thr)" "" "" "0000721106" "00014181" "90" "3694" "0" "3694" "0" "c.3694del" "r.(?)" "p.(Glu1232Argfs*5)" "" "" "0000736286" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906∗)" "26" "" "0000736288" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000736289" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000736290" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000736291" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000736292" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000736293" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000736295" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000736296" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000736300" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000736303" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000736304" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000736306" "00014181" "70" "2717" "0" "2717" "0" "c.2717C>A" "r.(?)" "p.(Ser906*)" "26" "" "0000796587" "00014181" "70" "3019" "0" "3019" "0" "c.3019C>T" "r.(?)" "p.(Arg1007Cys)" "" "" "0000802734" "00014181" "90" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Gln370*)" "" "" "0000802735" "00014181" "30" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Asp382Asn)" "" "" "0000802736" "00014181" "90" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Arg556*)" "" "" "0000802737" "00014181" "30" "1767" "0" "1767" "0" "c.1767A>G" "r.(?)" "p.(Glu589=)" "" "" "0000802738" "00014181" "30" "2517" "0" "2517" "0" "c.2517T>C" "r.(?)" "p.(Gly839=)" "" "" "0000802739" "00014181" "50" "3787" "0" "3787" "0" "c.3787C>T" "r.(?)" "p.(Gln1263*)" "" "" "0000802740" "00014181" "50" "3844" "0" "3845" "0" "c.3844_3845del" "r.(?)" "p.(Leu1283Valfs*39)" "" "" "0000802741" "00014181" "50" "12512" "0" "12512" "0" "c.*8654C>G" "r.(=)" "p.(=)" "" "" "0000813830" "00014181" "50" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Glu159Lys)" "" "" "0000815662" "00014181" "50" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Val1111Met)" "" "" "0000839647" "00014181" "50" "3367" "0" "3367" "0" "c.3367A>G" "r.(?)" "p.(Asn1123Asp)" "" "" "0000851322" "00014181" "50" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Ala419Thr)" "" "" "0000860514" "00014181" "50" "412" "0" "412" "0" "c.412A>G" "r.(?)" "p.(Met138Val)" "" "" "0000860515" "00014181" "50" "1607" "0" "1607" "0" "c.1607C>T" "r.(?)" "p.(Pro536Leu)" "" "" "0000860516" "00014181" "50" "3506" "0" "3506" "0" "c.3506G>A" "r.(?)" "p.(Arg1169His)" "" "" "0000860517" "00014181" "30" "3658" "7" "3658" "7" "c.3658+7A>T" "r.(=)" "p.(=)" "" "" "0000887465" "00014181" "90" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Arg556*)" "" "" "0000887466" "00014181" "50" "2002" "0" "2002" "0" "c.2002T>C" "r.(?)" "p.(Cys668Arg)" "" "" "0000887467" "00014181" "50" "2704" "0" "2704" "0" "c.2704C>G" "r.(?)" "p.(Leu902Val)" "" "" "0000887468" "00014181" "70" "2946" "5" "2946" "5" "c.2946+5G>A" "r.spl?" "p.?" "" "" "0000887469" "00014181" "30" "3479" "0" "3479" "0" "c.3479G>A" "r.(?)" "p.(Arg1160Gln)" "" "" "0000912583" "00014181" "50" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Gly348Glu)" "" "" "0000912584" "00014181" "50" "1259" "0" "1259" "0" "c.1259G>A" "r.(?)" "p.(Arg420His)" "" "" "0000912585" "00014181" "70" "2078" "-1" "2078" "-1" "c.2078-1G>A" "r.spl?" "p.?" "" "" "0000912586" "00014181" "50" "3611" "0" "3611" "0" "c.3611G>A" "r.(?)" "p.(Arg1204Gln)" "" "" "0000921777" "00014181" "50" "806" "0" "806" "0" "c.806A>G" "r.(?)" "p.(Asp269Gly)" "" "" "0000929244" "00014181" "30" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.(=)" "" "" "0000929245" "00014181" "50" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Val344Ile)" "" "" "0000944337" "00014181" "90" "866" "0" "869" "0" "c.866_869del" "r.(?)" "p.(Lys289ArgfsTer17)" "" "" "0000944338" "00014181" "70" "1465" "0" "1465" "0" "c.1465C>G" "r.(?)" "p.(Leu489Val)" "" "" "0000944339" "00014181" "70" "1926" "0" "1926" "0" "c.1926C>A" "r.(?)" "p.(Ser642Arg)" "" "" "0000944340" "00014181" "70" "3791" "0" "3791" "0" "c.3791del" "r.(?)" "p.(Asn1264MetfsTer21)" "" "" "0000944368" "00014181" "70" "1415" "0" "1415" "0" "c.1415G>C" "r.(?)" "p.(Cys472Ser)" "" "" "0000944369" "00014181" "90" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991Ter)" "" "" "0000944517" "00014181" "90" "1729" "0" "1741" "0" "c.1729_1741del" "r.(?)" "p.(Phe577IlefsTer28)" "" "" "0000960207" "00014181" "70" "2751" "0" "2751" "0" "c.2751del" "r.(?)" "p.(Lys917Asnfs*10)" "" "" "0000960209" "00014181" "50" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "" "" "0000964262" "00014181" "90" "2436" "0" "2436" "0" "c.2436T>G" "r.(?)" "p.(Tyr812*)" "" "" "0000977371" "00014181" "70" "1479" "0" "1480" "0" "c.1479_1480insTCCTAAAATGATTATTTCATTTTAG" "r.(?)" "p.(Glu494Serfs*2)" "" "" "0000995904" "00014181" "30" "1058" "0" "1058" "0" "c.1058A>T" "r.(?)" "p.(Glu353Val)" "" "" "0000995905" "00014181" "50" "2449" "0" "2449" "0" "c.2449T>G" "r.(?)" "p.(Cys817Gly)" "" "" "0000995906" "00014181" "50" "3637" "0" "3637" "0" "c.3637C>T" "r.(?)" "p.(Pro1213Ser)" "" "" "0000995907" "00014181" "30" "3667" "0" "3667" "0" "c.3667G>A" "r.(?)" "p.(Asp1223Asn)" "" "" "0001020003" "00014181" "70" "2751" "0" "2751" "0" "c.2751dup" "r.(?)" "p.(Gln918Thrfs*24)" "" "" "0001025280" "00014181" "50" "554" "-4" "554" "-4" "c.554-4A>G" "r.spl?" "p.?" "" "" "0001035928" "00014181" "50" "1915" "0" "1915" "0" "c.1915A>C" "r.(?)" "p.(Ser639Arg)" "" "" "0001044900" "00014181" "90" "3737" "0" "3737" "0" "c.3737del" "r,(?)" "p.(Pro1246GlnfsTer39)" "" "" "0001044901" "00014181" "90" "1675" "-2" "1675" "-2" "c.1675-2A>C" "r.spl" "p.?" "" "" "0001046967" "00014181" "50" "3835" "0" "3835" "0" "c.3835A>G" "r.(?)" "p.(Met1279Val)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 132 "{{screeningid}}" "{{variantid}}" "0000002903" "0000021271" "0000002906" "0000021275" "0000050566" "0000079546" "0000058993" "0000089792" "0000059140" "0000089948" "0000059140" "0000089949" "0000059141" "0000089950" "0000059143" "0000089952" "0000079958" "0000128833" "0000080081" "0000128960" "0000080086" "0000128965" "0000080093" "0000128972" "0000080134" "0000129041" "0000080138" "0000129047" "0000080138" "0000129048" "0000080233" "0000129184" "0000163917" "0000366963" "0000163918" "0000366964" "0000163919" "0000366965" "0000163920" "0000366966" "0000163921" "0000366967" "0000163922" "0000366968" "0000163923" "0000366969" "0000163924" "0000366970" "0000163925" "0000366971" "0000163926" "0000366972" "0000163927" "0000366973" "0000163928" "0000366974" "0000163929" "0000366975" "0000163930" "0000366976" "0000163931" "0000366977" "0000163932" "0000366978" "0000163933" "0000366979" "0000163934" "0000366980" "0000163934" "0000366997" "0000163935" "0000366981" "0000163936" "0000366982" "0000163937" "0000366983" "0000163938" "0000366984" "0000163939" "0000366985" "0000163940" "0000366986" "0000163941" "0000366987" "0000163942" "0000366988" "0000163943" "0000366989" "0000163944" "0000366990" "0000163945" "0000366991" "0000163946" "0000366992" "0000163947" "0000366993" "0000163948" "0000366994" "0000163949" "0000366995" "0000163950" "0000366996" "0000163951" "0000366998" "0000163952" "0000366999" "0000163953" "0000367000" "0000163954" "0000367001" "0000163955" "0000367002" "0000163956" "0000367003" "0000163957" "0000367004" "0000163958" "0000367005" "0000163959" "0000367006" "0000163960" "0000367007" "0000163961" "0000367008" "0000163962" "0000367009" "0000163963" "0000367010" "0000163964" "0000367011" "0000163965" "0000367012" "0000163966" "0000367013" "0000163967" "0000367014" "0000163968" "0000367015" "0000163969" "0000367016" "0000163970" "0000367017" "0000163971" "0000367018" "0000163972" "0000367019" "0000163973" "0000367020" "0000163974" "0000367021" "0000163975" "0000367022" "0000163976" "0000367023" "0000163977" "0000367024" "0000163978" "0000367025" "0000163979" "0000367026" "0000163980" "0000367027" "0000163981" "0000367028" "0000163982" "0000367029" "0000163983" "0000367030" "0000163984" "0000367031" "0000163985" "0000367032" "0000163986" "0000367033" "0000163987" "0000367034" "0000163988" "0000367035" "0000163989" "0000367036" "0000163990" "0000367037" "0000168907" "0000366962" "0000267476" "0000598536" "0000268155" "0000600829" "0000295373" "0000652062" "0000295374" "0000652063" "0000295375" "0000652064" "0000295376" "0000652065" "0000306247" "0000669935" "0000306248" "0000669936" "0000328284" "0000712230" "0000328287" "0000712233" "0000328295" "0000712241" "0000328298" "0000712244" "0000328322" "0000960209" "0000328336" "0000712280" "0000328336" "0000960207" "0000328337" "0000712281" "0000336754" "0000736286" "0000336755" "0000736288" "0000336756" "0000736289" "0000336757" "0000736290" "0000336758" "0000736291" "0000336759" "0000736292" "0000336760" "0000736293" "0000336762" "0000736295" "0000336763" "0000736296" "0000336765" "0000736300" "0000336767" "0000736303" "0000336768" "0000736304" "0000336770" "0000736306" "0000387560" "0000815662" "0000442978" "0000944337" "0000442979" "0000944338" "0000442980" "0000944339" "0000442981" "0000944340" "0000443009" "0000944368" "0000443010" "0000944369" "0000443135" "0000944517" "0000460974" "0001020003" "0000467131" "0001044900" "0000467132" "0001044901"