### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYO3A) # 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}}" "MYO3A" "myosin IIIA" "10" "p11.1" "unknown" "NG_011635.1" "UD_132085229254" "" "http://www.LOVD.nl/MYO3A" "" "1" "7601" "53904" "606808" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MYO3A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-04-30 16:58:51" "00000" "2025-11-01 13:22:20" ## 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}}" "00014176" "MYO3A" "myosin IIIA" "001" "NM_017433.4" "" "NP_059129.3" "" "" "" "-360" "5424" "4851" "26223002" "26501465" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "02631" "DFNB30" "deafness, autosomal recessive, type 30 (DFNB-30)" "AR" "607101" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MYO3A" "02631" ## Individuals ## Do not remove or alter this header ## ## Count = 96 "{{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}}" "00059162" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00284214" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284215" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284216" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284217" "" "" "" "2" "" "00004" "{PMID:Choi 2013:23990876}" "family, 2 affected" "" "" "Korea" "" "0" "" "" "" "SB47-91" "00284218" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284219" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284220" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284221" "" "" "" "1" "" "00004" "{PMID:Walsh 2002:12032315}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00284222" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00284223" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284224" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284225" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284226" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284227" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284228" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284229" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284231" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284232" "" "" "" "1" "" "00004" "{PMID:Walsh 2002:12032315}" "" "" "" "" "" "0" "" "" "" "" "00284233" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00284234" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284235" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284236" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284237" "" "" "" "1" "" "00004" "{PMID:Shearer 2013:23804846}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284238" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284239" "" "" "" "1" "" "00004" "{PMID:Walsh 2002:12032315}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00284240" "" "" "" "1" "" "00004" "{PMID:Walsh 2002:12032315}, {PMID:Shearer 1993:20301607}, {PMID:Walsh 2011:21165622}" "" "" "" "" "" "0" "" "" "" "" "00284241" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284242" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284243" "" "" "" "1" "" "00004" "{PMID:Ji 2014:25342930}" "" "" "" "" "" "0" "" "" "" "" "00284244" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284245" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284246" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00290023" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290024" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290025" "" "" "" "163" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290026" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290028" "" "" "" "83" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290029" "" "" "" "74" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290030" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296681" "" "" "" "7" "" "02404" "{PMID:Doll 2020:32519820}" "" "-" "no" "Germany" "" "0" "" "" "European" "" "00304239" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304240" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304241" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308729" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00334549" "" "" "" "1" "" "04006" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "family, plus nine affected family members reported (not tested)" "F" "no" "Brazil" ">78y" "0" "" "cochlear implant" "Brazilian admixed" "ORO38-Fam4" "00334553" "" "" "" "1" "" "04006" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "family, plus eight affected family members reported (not tested)" "M" "no" "Brazil" ">60y" "0" "" "" "Brazilian admixed" "ORO130-Fam5" "00334800" "" "" "" "7" "" "04012" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "family 3, 7 affected" "F" "no" "Brazil" ">54y" "0" "" "" "Brazilian admixed" "Fam3-19516" "00334801" "" "" "00334800" "1" "" "04012" " \t{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "relative" "M" "no" "Brazil" ">87y" "" "" "" "Brazilian admixed" "Fam3-19516J" "00334802" "" "" "00334800" "1" "" "04012" " \t{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "relative" "M" "no" "Brazil" ">53y" "" "" "" "Brazilian admixed" "Fam3-19516R" "00334803" "" "" "00334800" "1" "" "04012" " \t{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "relative" "M" "no" "Brazil" ">26y" "" "" "" "Brazilian admixed" "Fam3-19516A" "00334804" "" "" "00334800" "1" "" "04012" " \t{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "relative" "F" "no" "Brazil" ">49y" "" "" "" "Brazilian admixed" "Fam3-19516L" "00334805" "" "" "00334800" "1" "" "04012" " \t{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "relative" "F" "no" "Brazil" ">62y" "" "" "" "Brazilian admixed" "Fam3-19516S" "00334808" "" "" "00334800" "1" "" "04012" " \t{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "relative" "F" "no" "Brazil" ">63y" "" "" "" "Brazilian admixed" "Fam3-19516N" "00334815" "" "" "" "10" "" "04012" "{PMID:Dantas 2018:29880844}" "family 2, 10 affected" "F" "no" "Brazil" ">45y" "0" "" "" "Brazilian admixed" "Fam2-16606" "00334818" "" "" "00334815" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">72y" "" "" "" "Brazilian admixed" "Fam2-16606L" "00334822" "" "" "00334815" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">48y" "" "" "" "Brazilian admixed" "Fam2-16606Y" "00334826" "" "" "00334815" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">50y" "" "" "" "Brazilian admixed" "Fam2-16606R" "00334828" "" "" "00334815" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">53y" "" "" "" "Brazilian admixed" "Fam2-16606N" "00334831" "" "" "00334815" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">58y" "" "" "" "Brazilian admixed" "Fam2-16606K" "00334833" "" "" "00334815" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">60y" "" "" "" "Brazilian admixed" "Fam2-16606A" "00334837" "" "" "00334815" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">62y" "" "" "" "Brazilian admixed" "Fam2-16606V" "00334839" "" "" "00334815" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">31y" "" "" "" "Brazilian admixed" "Fam2-16606J" "00334841" "" "" "00334815" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">02y" "" "" "" "Brazilian admixed" "Fam2-16606G" "00334976" "" "" "" "30" "" "04012" "{PMID:Dantas 2018:29880844}" "7-generation family, 30 affeccted (13F, 17M)" "F" "no" "Brazil" ">60y" "0" "" "" "Brazilian admixed" "Fam1-18585" "00334978" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">62y" "" "" "" "Brazilian admixed" "Fam1-18585AB" "00334980" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">60y" "" "" "" "Brazilian admixed" "Fam1-18585AU" "00334982" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">67y" "" "" "" "Brazilian admixed" "Fam1-18585CT" "00334983" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">60y" "" "" "" "Brazilian admixed" "Fam1-18585E" "00334984" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "yes" "Brazil" ">86y" "" "" "" "Brazilian admixed" "Fam1-18585FL" "00334986" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">57y" "" "" "" "Brazilian admixed" "Fam1-18585JR" "00334987" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">37y" "" "" "" "Brazilian admixed" "Fam1-18585LA" "00334989" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">44y" "" "" "" "Brazilian admixed" "Fam1-18585LL" "00334991" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">32y" "" "" "" "Brazilian admixed" "Fam1-18585MC" "00334992" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">67y" "" "" "" "Brazilian admixed" "Fam1-18585MD" "00334993" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">59y" "" "" "" "Brazilian admixed" "Fam1-18585MF" "00334994" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">36y" "" "" "" "Brazilian admixed" "Fam1-18585MN" "00334995" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">54y" "" "" "" "Brazilian admixed" "Fam1-18585MZ" "00334996" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">65y" "" "" "" "Brazilian admixed" "Fam1-18585NN" "00334997" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">30y" "" "" "" "Brazilian admixed" "Fam1-18585VC" "00334998" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">72y" "" "" "" "Brazilian admixed" "Fam1-18585AD" "00334999" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">38y" "" "" "" "Brazilian admixed" "Fam1-18585CA" "00335000" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">47y" "" "" "" "Brazilian admixed" "Fam1-18585CC" "00335001" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">48y" "" "" "" "Brazilian admixed" "Fam1-18585CR" "00335002" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">60y" "" "" "" "" "Fam1-18585DN" "00335003" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" ">21y" "" "" "" "Brazilian admixed" "Fam1-18585RB" "00335004" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" "" "" "" "" "" "Fam1-18585X" "00335005" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">61y" "" "" "" "Brazilian admixed" "Fam1-18585P" "00335378" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "F" "no" "Brazil" "94y" "0" "yes" "" "Brazilian admixed" "18585MA" "00335379" "" "" "00334976" "1" "" "04012" "{PMID:Dantas 2018:29880844}" "relative" "M" "no" "Brazil" ">34y" "0" "" "" "Brazilian admixed" "18585RS" "00336037" "" "" "" "9" "" "00784" "Bueno et al., 2020, submitted" "family, 9 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00407355" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-93" "00424211" "" "" "" "1" "" "00006" "{PMID:Szucs 2022:36361862}" "female patient" "F" "" "Hungary" "" "0" "" "" "" "patient" "00441522" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "5718" "00441550" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "CIC4042" "00465984" "" "" "" "3" "" "04656" "" "" "" "" "Pakistan" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 72 "{{individualid}}" "{{diseaseid}}" "00059162" "00531" "00284217" "05086" "00284221" "05086" "00284222" "05103" "00284232" "05086" "00284233" "05103" "00284239" "05086" "00284240" "05103" "00284243" "05103" "00290023" "00198" "00290024" "00198" "00290025" "00198" "00290026" "00198" "00290028" "00198" "00290029" "00198" "00290030" "00198" "00296681" "00350" "00304239" "00198" "00304240" "00198" "00304241" "00198" "00308729" "00000" "00334549" "05086" "00334553" "05086" "00334800" "05086" "00334801" "05086" "00334802" "05086" "00334803" "05086" "00334804" "05086" "00334805" "05086" "00334808" "05086" "00334815" "05086" "00334818" "05086" "00334822" "05086" "00334826" "05086" "00334828" "05086" "00334831" "05086" "00334833" "05086" "00334837" "05086" "00334839" "05086" "00334841" "05086" "00334976" "05086" "00334978" "05086" "00334980" "05086" "00334982" "05086" "00334983" "05086" "00334984" "05086" "00334986" "05086" "00334987" "05086" "00334989" "05086" "00334991" "05086" "00334992" "05086" "00334993" "05086" "00334994" "05086" "00334995" "05086" "00334996" "05086" "00334997" "05086" "00334998" "05086" "00334999" "05086" "00335000" "05086" "00335001" "05086" "00335002" "05086" "00335003" "05086" "00335004" "05086" "00335005" "05086" "00335378" "05086" "00335379" "05086" "00336037" "05086" "00407355" "04214" "00424211" "05324" "00441522" "05086" "00441550" "00000" "00465984" "05400" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00350, 00531, 02631, 04214, 05086, 05103, 05324, 05400 ## Count = 60 "{{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}}" "0000218217" "05086" "00284217" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218218" "05086" "00284221" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218220" "05086" "00284232" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218221" "05086" "00284239" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000218531" "05103" "00284222" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218532" "05103" "00284233" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218533" "05103" "00284240" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 30" "deafness, autosomal recessive" "" "0000218534" "05103" "00284243" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000224083" "00350" "00296681" "02404" "Familial, autosomal recessive" "" "Non-syndromic hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000252589" "05086" "00334549" "04006" "Familial, autosomal dominant" "72y" "HP:0000408, HP:0008615, HP:0008619" "48y" "48y" "48y" "" "" "" "" "" "" "" "" "0000252593" "05086" "00334553" "04006" "Familial, autosomal dominant" "55y" "HP:0000408, HP:0008619,HP:0008615" "18y" "36y" "18y" "" "" "" "" "" "" "" "" "0000252623" "05086" "00334800" "04012" "Familial, autosomal dominant" "44y" "HP:0000408, HP:0008619,HP:0008615" "20y" "22y" "20y" "" "" "" "" "" "" "" "" "0000252624" "05086" "00334801" "04012" "Familial, autosomal dominant" "87y" "HP:0000408, HP:0008619,HP:0008615" "10y" "" "10y" "" "" "" "" "" "" "" "" "0000252625" "05086" "00334802" "04012" "Familial, autosomal dominant" "53y" "HP:0000408, HP:0008619,HP:0008615" "16y" "16y" "16y" "" "" "" "" "" "" "" "" "0000252627" "05086" "00334803" "04012" "Familial, autosomal dominant" "26y" "HP:0000408, HP:0008619,HP:0008615" "16y" "16y" "16y" "" "" "" "" "" "" "" "" "0000252628" "05086" "00334804" "04012" "Familial, autosomal dominant" "49y" "HP:0000408, HP:0008619,HP:0008615" "15y" "16y" "15y" "" "" "" "" "" "" "" "" "0000252630" "05086" "00334805" "04012" "Familial, autosomal dominant" "61y" "HP:0000408, HP:0008619,HP:0008615" "10y" "54y" "10y" "" "" "" "" "" "" "" "" "0000252633" "05086" "00334808" "04012" "Familial, autosomal dominant" "63y" "HP:0000408, HP:0008619,HP:0008615" "20y" "58y" "20y" "" "" "" "" "" "" "" "" "0000252640" "05086" "00334815" "04012" "Familial, autosomal dominant" "30y" "HP:0000408, HP:0008619,HP:0008615" "25y" "30y" "25y" "" "" "" "" "" "" "" "" "0000252644" "05086" "00334818" "04012" "Familial, autosomal dominant" "72y" "HP:0000408, HP:0008619,HP:0008615" "50y" "53y" "50y" "" "" "" "" "" "" "" "" "0000252647" "05086" "00334822" "04012" "Familial, autosomal dominant" "36y" "HP:0000408, HP:0008619,HP:0008615" "30y" "41y" "30y" "" "" "" "" "" "" "" "" "0000252651" "05086" "00334826" "04012" "Familial, autosomal dominant" "38y" "HP:0000408, HP:0008619,HP:0008615" "33y" "38y" "33y" "" "" "" "" "" "" "" "" "0000252654" "05086" "00334828" "04012" "Familial, autosomal dominant" "41y" "HP:0000408, HP:0008619,HP:0008615" "29y" "36y" "29y" "" "" "" "" "" "" "" "" "0000252655" "05086" "00334831" "04012" "Familial, autosomal dominant" "" "HP:0000408, HP:0008619,HP:0008615" "" "" "" "" "" "" "" "" "" "" "" "0000252658" "05086" "00334833" "04012" "Familial, autosomal dominant" "48y" "HP:0000408, HP:0008619,HP:0008615" "35y" "38y" "35y" "" "" "" "" "" "" "" "" "0000252660" "05086" "00334837" "04012" "Familial, autosomal dominant" "50y" "HP:0000408, HP:0008619,HP:0008615" "36y" "39y" "36y" "" "" "" "" "" "" "" "" "0000252662" "05086" "00334839" "04012" "Familial, autosomal dominant" "19y" "HP:0000408, HP:0008619,HP:0008615" "18y" "18y" "18y" "" "" "" "" "" "" "" "" "0000252665" "05086" "00334841" "04012" "Familial, autosomal dominant" "02y" "HP:0008619, HP:0008527" "00y00m" "00y01m" "0m" "" "" "" "" "" "" "" "" "0000252723" "05086" "00334976" "04012" "Familial, autosomal dominant" "53y" "HP:0000408, HP:0008615, HP:0008619" "28y" "28y" "28y" "" "" "" "" "" "" "" "" "0000252725" "05086" "00334978" "04012" "Familial, autosomal dominant" "57y" "HP:0000408, HP:0008615, HP:0008619" "48y" "48y" "48y" "" "" "" "" "" "" "" "" "0000252728" "05086" "00334980" "04012" "Familial, autosomal dominant" "50y" "HP:0000408, HP:0008615, HP:0008619" "20y" "22y" "20y" "" "" "" "" "" "" "" "" "0000252729" "05086" "00334982" "04012" "Familial, autosomal dominant" "58y" "HP:0000408, HP:0008615, HP:0008619" "58y" "58y" "58y" "" "" "" "" "" "" "" "" "0000252730" "05086" "00334983" "04012" "Familial, autosomal dominant" "60y" "HP:0000408, HP:0008615, HP:0008619" "35y" "35y" "35y" "" "" "" "" "" "" "" "" "0000252731" "05086" "00334983" "04012" "Familial, autosomal dominant" "60y" "HP:0000408, HP:0008615, HP:0008619" "35y" "35y" "35y" "" "" "" "" "" "" "" "" "0000252732" "05086" "00334984" "04012" "Familial, autosomal dominant" "81y" "HP:0000408, HP:0008615, HP:0008619" "?" "81y" "?" "" "" "" "" "" "" "" "" "0000252734" "05086" "00334986" "04012" "Familial, autosomal dominant" "54y" "HP:0000408, HP:0008615, HP:0008619" "35y" "36y" "35y" "" "" "" "" "" "" "" "" "0000252735" "05086" "00334987" "04012" "Familial, autosomal dominant" "28y" "HP:0000408, HP:0008615, HP:0008619" "28y" "28y" "28y" "" "" "" "" "" "" "" "" "0000252736" "05086" "00334989" "04012" "Familial, autosomal dominant" "38y" "HP:0000408, HP:0008615, HP:0008619" "12y" "12y" "12y" "" "" "" "" "" "" "" "" "0000252737" "05086" "00334991" "04012" "Familial, autosomal dominant" "27y" "HP:0000408, HP:0008615, HP:0008619" "16y" "22y" "16y" "" "" "" "" "" "" "" "" "0000252738" "05086" "00334992" "04012" "Familial, autosomal dominant" "57y" "HP:0000408, HP:0008615, HP:0008619" "50y" "58y" "50y" "" "" "" "" "" "" "" "" "0000252739" "05086" "00334993" "04012" "Familial, autosomal dominant" "49y" "HP:0000408, HP:0008615, HP:0008619" "12y" "23y" "12y" "" "" "" "" "" "" "" "" "0000252740" "05086" "00334994" "04012" "Familial, autosomal dominant" "27y" "HP:0000408, HP:0008615, HP:0008619" "32y" "32y" "32y" "" "" "" "" "" "" "" "" "0000252741" "05086" "00334995" "04012" "Familial, autosomal dominant" "49y" "HP:0000408, HP:0008615, HP:0008619" "40y" "49y" "40y" "" "" "" "" "" "" "" "" "0000252742" "05086" "00334996" "04012" "Familial, autosomal dominant" "56y" "HP:0000408, HP:0008615, HP:0008619" "34y" "35y" "34y" "" "" "" "" "" "" "" "" "0000252743" "05086" "00334997" "04012" "Familial, autosomal dominant" "25y" "HP:0000408, HP:0008615, HP:0008619" "22y" "25y" "22y" "" "" "" "" "" "" "" "" "0000252744" "05086" "00334998" "04012" "Familial, autosomal dominant" "62y" "HP:0000408, HP:0008615, HP:0008619" "48y" "50y" "48y" "" "" "" "" "" "" "" "" "0000252745" "05086" "00334999" "04012" "Familial, autosomal dominant" "28y" "HP:0000408, HP:0008615, HP:0008619" "28y" "28y" "28y" "" "" "" "" "" "" "" "" "0000252746" "05086" "00335000" "04012" "Familial, autosomal dominant" "42y" "HP:0000408, HP:0008615, HP:0008619" "30y" "42y" "30y" "" "" "" "" "" "" "" "" "0000252747" "05086" "00335001" "04012" "Familial, autosomal dominant" "39y" "HP:0000408, HP:0008615, HP:0008619" "40y" "43y" "40y" "" "" "" "" "" "" "" "" "0000252748" "05086" "00335002" "04012" "Familial, autosomal dominant" "50y" "HP:0000408, HP:0008615, HP:0008619" "19y" "38y" "19y" "" "" "" "" "" "" "" "" "0000252749" "05086" "00335003" "04012" "Familial, autosomal dominant" "12y" "HP:0000408, HP:0008615, HP:0008619" "17y" "12y" "17y" "" "" "" "" "" "" "" "" "0000252750" "05086" "00335004" "04012" "Familial, autosomal recessive" "58y" "HP:0000408, HP:0008615, HP:0008619" "40y" "44y" "40y" "" "" "" "" "" "" "" "" "0000252751" "05086" "00335005" "04012" "Familial, autosomal dominant" "51y" "HP:0000408, HP:0008615, HP:0008619" "35y" "56y" "35y" "" "" "" "" "" "" "" "" "0000253091" "05086" "00335378" "04012" "Familial, autosomal dominant" "93y" "HP:0000408, HP:0008615, HP:0008619" "40y" "?" "40y" "" "" "" "" "" "" "" "" "0000253326" "05086" "00335379" "04012" "Familial, autosomal dominant" "34y" "HP:0000408, HP:0008615, HP:0008619" "20y" "32y" "20y" "" "" "" "" "" "" "" "" "0000253928" "05086" "00336037" "00784" "Familial, autosomal dominant" "" "hearing loss (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "0000299709" "04214" "00407355" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000315406" "05324" "00424211" "00006" "Isolated (sporadic)" "13y" "see paper; ..., birth 41w Caesarean section, required temporary respiratory support; normal speech development, motor development delayed; 3y-unsteady gait, imbalance; 6y-poor coordination; highly elevated serum CK (7y-9892 U/L, 9y-10,694 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000330960" "05086" "00441522" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000351370" "05400" "00465984" "04656" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing Loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 96 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059139" "00059162" "1" "01551" "01551" "2016-02-29 11:54:30" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000285364" "00284214" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285365" "00284215" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285366" "00284216" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285367" "00284217" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2021-12-20 18:52:48" "SEQ" "DNA" "" "" "0000285368" "00284218" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285369" "00284219" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285370" "00284220" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285371" "00284221" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285372" "00284222" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285373" "00284223" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285374" "00284224" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285375" "00284225" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285376" "00284226" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285377" "00284227" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285378" "00284228" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285379" "00284229" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285381" "00284231" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285382" "00284232" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285383" "00284233" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285384" "00284234" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285385" "00284235" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285386" "00284236" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285387" "00284237" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285388" "00284238" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285389" "00284239" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285390" "00284240" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285391" "00284241" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285392" "00284242" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285393" "00284243" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285394" "00284244" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285395" "00284245" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285396" "00284246" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000291191" "00290023" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291192" "00290024" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291193" "00290025" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291194" "00290026" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291196" "00290028" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291197" "00290029" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291198" "00290030" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297791" "00296681" "1" "02404" "02404" "2020-04-10 16:03:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000305368" "00304239" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305369" "00304240" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305370" "00304241" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309874" "00308729" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000335778" "00334549" "1" "04006" "04006" "2021-03-01 15:03:45" "" "" "SEQ" "DNA" "Blood" "" "0000335782" "00334553" "1" "04006" "04006" "2021-03-01 15:34:23" "" "" "SEQ" "DNA" "Blood" "" "0000336029" "00334800" "1" "04012" "04012" "2021-03-01 19:44:40" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000336030" "00334801" "1" "04012" "04012" "2021-03-01 20:00:35" "" "" "SEQ" "DNA" "Blood" "" "0000336031" "00334802" "1" "04012" "04012" "2021-03-01 20:13:07" "" "" "SEQ" "DNA" "Blood" "" "0000336032" "00334803" "1" "04012" "04012" "2021-03-01 20:18:56" "" "" "SEQ" "DNA" "Blood" "" "0000336033" "00334804" "1" "04012" "04012" "2021-03-01 20:24:08" "" "" "SEQ" "DNA" "Blood" "" "0000336034" "00334805" "1" "04012" "04012" "2021-03-01 20:29:11" "" "" "SEQ" "DNA" "Blood" "" "0000336037" "00334808" "1" "04012" "04012" "2021-03-01 20:34:54" "" "" "SEQ" "DNA" "Blood" "" "0000336044" "00334815" "1" "04012" "04012" "2021-03-01 20:55:20" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000336048" "00334818" "1" "04012" "04012" "2021-03-01 21:05:04" "" "" "SEQ" "DNA" "Blood" "" "0000336052" "00334822" "1" "04012" "04012" "2021-03-01 21:14:50" "" "" "SEQ" "DNA" "Blood" "" "0000336055" "00334826" "1" "04012" "04012" "2021-03-01 21:20:31" "" "" "SEQ" "DNA" "Blood" "" "0000336057" "00334828" "1" "04012" "04012" "2021-03-01 21:25:38" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000336060" "00334831" "1" "04012" "04012" "2021-03-01 21:29:14" "" "" "SEQ" "DNA" "Blood" "" "0000336063" "00334833" "1" "04012" "04012" "2021-03-01 21:34:41" "" "" "SEQ" "DNA" "Blood" "" "0000336065" "00334837" "1" "04012" "04012" "2021-03-01 21:39:32" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000336068" "00334839" "1" "04012" "04012" "2021-03-01 21:45:36" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000336070" "00334841" "1" "04012" "04012" "2021-03-01 21:52:07" "" "" "SEQ" "DNA" "Blood" "" "0000336207" "00334976" "1" "04012" "04012" "2021-03-02 18:13:03" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000336209" "00334978" "1" "04012" "04012" "2021-03-02 18:22:47" "" "" "SEQ" "DNA" "Blood" "" "0000336212" "00334980" "1" "04012" "04012" "2021-03-02 18:27:51" "" "" "SEQ" "DNA" "Blood" "" "0000336213" "00334982" "1" "04012" "04012" "2021-03-02 18:32:03" "" "" "SEQ" "DNA" "Blood" "" "0000336214" "00334983" "1" "04012" "04012" "2021-03-02 18:35:39" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000336215" "00334984" "1" "04012" "04012" "2021-03-02 18:39:53" "" "" "SEQ" "DNA" "Blood" "" "0000336217" "00334986" "1" "04012" "04012" "2021-03-02 18:43:42" "" "" "SEQ" "DNA" "Blood" "" "0000336218" "00334987" "1" "04012" "04012" "2021-03-02 18:47:08" "" "" "SEQ" "DNA" "Blood" "" "0000336219" "00334989" "1" "04012" "04012" "2021-03-02 18:51:03" "" "" "SEQ" "DNA" "Blood" "" "0000336220" "00334991" "1" "04012" "04012" "2021-03-02 19:00:14" "" "" "SEQ" "DNA" "Blood" "" "0000336221" "00334992" "1" "04012" "04012" "2021-03-02 19:04:04" "" "" "SEQ" "DNA" "Blood" "" "0000336222" "00334993" "1" "04012" "04012" "2021-03-02 19:07:27" "" "" "SEQ" "DNA" "Blood" "" "0000336223" "00334994" "1" "04012" "04012" "2021-03-02 19:13:07" "" "" "SEQ" "DNA" "Blood" "" "0000336224" "00334995" "1" "04012" "04012" "2021-03-02 19:20:13" "" "" "SEQ" "DNA" "Blood" "" "0000336225" "00334996" "1" "04012" "04012" "2021-03-02 19:23:35" "" "" "SEQ" "DNA" "Blood" "" "0000336226" "00334997" "1" "04012" "04012" "2021-03-02 19:27:36" "" "" "SEQ" "DNA" "Blood" "" "0000336227" "00334998" "1" "04012" "04012" "2021-03-02 19:33:02" "" "" "SEQ" "DNA" "Blood" "" "0000336228" "00334999" "1" "04012" "04012" "2021-03-02 19:37:49" "" "" "SEQ" "DNA" "Blood" "" "0000336229" "00335000" "1" "04012" "04012" "2021-03-02 19:41:23" "" "" "SEQ" "DNA" "Blood" "" "0000336230" "00335001" "1" "04012" "04012" "2021-03-02 19:44:44" "" "" "SEQ" "DNA" "Blood" "" "0000336231" "00335002" "1" "04012" "04012" "2021-03-02 19:54:20" "" "" "SEQ" "DNA" "Blood" "" "0000336232" "00335003" "1" "04012" "04012" "2021-03-02 19:58:31" "" "" "SEQ" "DNA" "Blood" "" "0000336233" "00335004" "1" "04012" "04012" "2021-03-02 20:02:13" "" "" "SEQ" "DNA" "Blood" "" "0000336234" "00335005" "1" "04012" "04012" "2021-03-02 20:05:31" "" "" "SEQ" "DNA" "Blood" "" "0000336607" "00335378" "1" "04012" "04012" "2021-03-05 12:14:30" "" "" "SEQ" "DNA" "Blood" "" "0000336608" "00335379" "1" "04012" "04012" "2021-03-05 12:21:42" "" "" "SEQ" "DNA" "Blood" "" "0000337267" "00336037" "1" "00784" "00006" "2021-03-11 10:17:05" "" "" "SEQ" "DNA" "" "" "0000408603" "00407355" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000425522" "00424211" "1" "00006" "00006" "2022-11-18 16:32:24" "" "" "FISH;microscope;SEQ;SEQ-NG" "DNA" "" "WES" "0000443008" "00441522" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443036" "00441550" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467634" "00465984" "1" "04656" "04656" "2025-07-01 19:09:15" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 77 "{{screeningid}}" "{{geneid}}" "0000059139" "MYO3A" "0000285364" "MYO3A" "0000285365" "MYO3A" "0000285366" "MYO3A" "0000285367" "MYO3A" "0000285368" "MYO3A" "0000285369" "MYO3A" "0000285370" "MYO3A" "0000285371" "MYO3A" "0000285372" "MYO3A" "0000285373" "MYO3A" "0000285374" "MYO3A" "0000285375" "MYO3A" "0000285376" "MYO3A" "0000285377" "MYO3A" "0000285378" "MYO3A" "0000285379" "MYO3A" "0000285381" "MYO3A" "0000285382" "MYO3A" "0000285383" "MYO3A" "0000285384" "MYO3A" "0000285385" "MYO3A" "0000285386" "MYO3A" "0000285387" "MYO3A" "0000285388" "MYO3A" "0000285389" "MYO3A" "0000285390" "MYO3A" "0000285391" "MYO3A" "0000285392" "MYO3A" "0000285393" "MYO3A" "0000285394" "MYO3A" "0000285395" "MYO3A" "0000285396" "MYO3A" "0000309874" "MYO3A" "0000335778" "GJB2" "0000335778" "MYO3A" "0000335782" "GJB2" "0000335782" "MYO3A" "0000336030" "MYO3A" "0000336031" "MYO3A" "0000336032" "MYO3A" "0000336033" "MYO3A" "0000336034" "MYO3A" "0000336037" "MYO3A" "0000336048" "MYO3A" "0000336052" "MYO3A" "0000336055" "MYO3A" "0000336060" "MYO3A" "0000336063" "MYO3A" "0000336070" "MYO3A" "0000336209" "MYO3A" "0000336212" "MYO3A" "0000336213" "MYO3A" "0000336215" "MYO3A" "0000336217" "MYO3A" "0000336218" "MYO3A" "0000336219" "MYO3A" "0000336220" "MYO3A" "0000336221" "MYO3A" "0000336222" "MYO3A" "0000336223" "MYO3A" "0000336224" "MYO3A" "0000336225" "MYO3A" "0000336226" "MYO3A" "0000336227" "MYO3A" "0000336228" "MYO3A" "0000336229" "MYO3A" "0000336230" "MYO3A" "0000336231" "MYO3A" "0000336232" "MYO3A" "0000336233" "MYO3A" "0000336234" "MYO3A" "0000336607" "MYO3A" "0000336608" "MYO3A" "0000337267" "MYO3A" "0000408603" "NES" "0000467634" "MYO3A" ## 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 = 193 "{{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}}" "0000089946" "0" "90" "10" "26355941" "26355941" "subst" "3.24931E-5" "01551" "MYO3A_000001" "g.26355941C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.26067012C>T" "" "pathogenic" "" "0000089947" "0" "90" "10" "26359062" "26359062" "subst" "3.25569E-5" "01551" "MYO3A_000002" "g.26359062C>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.26070133C>A" "" "pathogenic" "" "0000248792" "0" "10" "10" "26355992" "26355992" "subst" "0.676852" "02325" "MYO3A_000008" "g.26355992A>G" "" "" "" "MYO3A(NM_017433.5):c.1042A>G (p.I348V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26067063A>G" "" "benign" "" "0000248916" "0" "10" "10" "26463043" "26463043" "subst" "0.41293" "02325" "MYO3A_000017" "g.26463043A>T" "" "" "" "MYO3A(NM_017433.5):c.3850A>T (p.T1284S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26174114A>T" "" "benign" "" "0000249140" "0" "10" "10" "26356015" "26356015" "subst" "0.479227" "02325" "MYO3A_000010" "g.26356015A>G" "" "" "" "MYO3A(NM_017433.5):c.1053+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26067086A>G" "" "benign" "" "0000254502" "0" "30" "10" "26482160" "26482160" "subst" "0.00538827" "01943" "MYO3A_000020" "g.26482160A>G" "" "" "" "MYO3A(NM_017433.5):c.4465A>G (p.I1489V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26193231A>G" "" "likely benign" "" "0000254602" "0" "30" "10" "26315318" "26315318" "subst" "2.43855E-5" "01943" "MYO3A_000006" "g.26315318A>G" "" "" "" "MYO3A(NM_017433.5):c.810A>G (p.K270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26026389A>G" "" "likely benign" "" "0000296227" "0" "10" "10" "26356014" "26356014" "subst" "0.478919" "02325" "MYO3A_000009" "g.26356014C>T" "" "" "" "MYO3A(NM_017433.5):c.1053+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26067085C>T" "" "benign" "" "0000296228" "0" "10" "10" "26357747" "26357747" "subst" "0.48005" "02325" "MYO3A_000011" "g.26357747C>T" "" "" "" "MYO3A(NM_017433.5):c.1104C>T (p.Y368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26068818C>T" "" "benign" "" "0000296229" "0" "10" "10" "26357748" "26357748" "subst" "0.678078" "02325" "MYO3A_000012" "g.26357748G>A" "" "" "" "MYO3A(NM_017433.5):c.1105G>A (p.V369I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26068819G>A" "" "benign" "" "0000296230" "0" "10" "10" "26357820" "26357820" "subst" "0.480153" "02325" "MYO3A_000013" "g.26357820C>T" "" "" "" "MYO3A(NM_017433.5):c.1170+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26068891C>T" "" "benign" "" "0000296231" "0" "10" "10" "26446312" "26446312" "subst" "0.502995" "02325" "MYO3A_000014" "g.26446312G>A" "" "" "" "MYO3A(NM_017433.5):c.2867G>A (p.S956N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26157383G>A" "" "benign" "" "0000296232" "0" "10" "10" "26463130" "26463130" "subst" "0.601909" "02325" "MYO3A_000018" "g.26463130C>A" "" "" "" "MYO3A(NM_017433.5):c.3937C>A (p.R1313S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26174201C>A" "" "benign" "" "0000296233" "0" "10" "10" "26355906" "26355906" "subst" "0.480631" "02325" "MYO3A_000007" "g.26355906G>A" "" "" "" "MYO3A(NM_017433.5):c.956G>A (p.R319H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26066977G>A" "" "benign" "" "0000302691" "0" "10" "10" "26462782" "26462782" "subst" "0.00105978" "01943" "MYO3A_000015" "g.26462782G>A" "" "" "" "MYO3A(NM_017433.5):c.3589G>A (p.E1197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26173853G>A" "" "benign" "" "0000302692" "0" "30" "10" "26462922" "26462922" "subst" "0.000462386" "01943" "MYO3A_000016" "g.26462922G>A" "" "" "" "MYO3A(NM_017433.5):c.3729G>A (p.R1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26173993G>A" "" "likely benign" "" "0000302693" "0" "30" "10" "26463443" "26463443" "subst" "0.00758361" "01943" "MYO3A_000019" "g.26463443C>T" "" "" "" "MYO3A(NM_017433.5):c.4250C>T (p.T1417I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26174514C>T" "" "likely benign" "" "0000302695" "0" "30" "10" "26312972" "26312972" "subst" "3.25127E-5" "01943" "MYO3A_000005" "g.26312972G>A" "" "" "" "MYO3A(NM_017433.5):c.753G>A (p.R251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26024043G>A" "" "likely benign" "" "0000321457" "0" "50" "10" "26305796" "26305796" "subst" "0" "01804" "MYO3A_000003" "g.26305796G>A" "" "" "" "MYO3A(NM_017433.4):c.556G>A (p.(Val186Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26016867G>A" "" "VUS" "" "0000337639" "0" "70" "10" "26312949" "26312949" "subst" "4.06517E-6" "02327" "MYO3A_000022" "g.26312949A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26024020A>C" "" "likely pathogenic" "" "0000340758" "0" "10" "10" "26462790" "26462790" "subst" "0.343917" "02327" "MYO3A_000028" "g.26462790G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26173861G>A" "" "benign" "" "0000341091" "0" "50" "10" "26455055" "26455055" "subst" "0" "02327" "MYO3A_000027" "g.26455055C>A" "" "" "" "MYO3A(NM_017433.5):c.3059C>A (p.A1020D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26166126C>A" "" "VUS" "" "0000341845" "0" "10" "10" "26463130" "26463130" "subst" "0.601909" "02327" "MYO3A_000018" "g.26463130C>A" "" "" "" "MYO3A(NM_017433.5):c.3937C>A (p.R1313S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26174201C>A" "" "benign" "" "0000343941" "0" "50" "10" "26500835" "26500835" "subst" "0" "02327" "MYO3A_000029" "g.26500835C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26211906C>G" "" "VUS" "" "0000346270" "0" "50" "10" "26432467" "26432467" "subst" "9.7519E-5" "02327" "MYO3A_000025" "g.26432467G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26143538G>T" "" "VUS" "" "0000346698" "0" "10" "10" "26355992" "26355992" "subst" "0.676852" "02327" "MYO3A_000008" "g.26355992A>G" "" "" "" "MYO3A(NM_017433.5):c.1042A>G (p.I348V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26067063A>G" "" "benign" "" "0000346757" "0" "50" "10" "26241190" "26241190" "subst" "0" "02327" "MYO3A_000021" "g.26241190A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25952261A>G" "" "VUS" "" "0000347286" "0" "90" "10" "26414513" "26414513" "subst" "0" "02327" "MYO3A_000024" "g.26414513T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26125584T>G" "" "pathogenic" "" "0000349270" "0" "10" "10" "26463043" "26463043" "subst" "0.41293" "02327" "MYO3A_000017" "g.26463043A>T" "" "" "" "MYO3A(NM_017433.5):c.3850A>T (p.T1284S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26174114A>T" "" "benign" "" "0000350203" "0" "50" "10" "26434453" "26434453" "subst" "4.07714E-6" "02327" "MYO3A_000026" "g.26434453A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26145524A>T" "" "VUS" "" "0000350515" "0" "10" "10" "26357748" "26357748" "subst" "0.678078" "02327" "MYO3A_000012" "g.26357748G>A" "" "" "" "MYO3A(NM_017433.5):c.1105G>A (p.V369I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26068819G>A" "" "benign" "" "0000539742" "0" "90" "10" "26285435" "26285435" "subst" "0" "02327" "MYO3A_000030" "g.26285435C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25996506C>G" "" "pathogenic" "" "0000539743" "0" "50" "10" "26285464" "26285464" "subst" "0" "02327" "MYO3A_000031" "g.26285464A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25996535A>C" "" "VUS" "" "0000539744" "0" "50" "10" "26285485" "26285485" "subst" "0" "02327" "MYO3A_000032" "g.26285485G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25996556G>A" "" "VUS" "" "0000539745" "0" "50" "10" "26286142" "26286142" "subst" "4.06755E-6" "02327" "MYO3A_000033" "g.26286142A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25997213A>G" "" "VUS" "" "0000539746" "0" "30" "10" "26305786" "26305786" "subst" "0.000836664" "01943" "MYO3A_000034" "g.26305786G>T" "" "" "" "MYO3A(NM_017433.5):c.546G>T (p.R182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26016857G>T" "" "likely benign" "" "0000539747" "0" "10" "10" "26310470" "26310470" "subst" "0.0709056" "02327" "MYO3A_000035" "g.26310470C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26021541C>T" "" "benign" "" "0000539748" "0" "10" "10" "26310506" "26310506" "subst" "0.0678016" "02327" "MYO3A_000036" "g.26310506C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26021577C>T" "" "benign" "" "0000539749" "0" "50" "10" "26310581" "26310582" "ins" "0" "01943" "MYO3A_000037" "g.26310581_26310582insTA" "" "" "" "MYO3A(NM_001368265.1):c.735_736insTA (p.(Asp246Ter)), MYO3A(NM_017433.5):c.731+3_731+4insAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26021652_26021653insTA" "" "VUS" "" "0000539750" "0" "10" "10" "26310597" "26310597" "subst" "0.067721" "02327" "MYO3A_000038" "g.26310597G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26021668G>A" "" "benign" "" "0000539752" "0" "10" "10" "26355906" "26355906" "subst" "0.480631" "02327" "MYO3A_000007" "g.26355906G>A" "" "" "" "MYO3A(NM_017433.5):c.956G>A (p.R319H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26066977G>A" "" "benign" "" "0000539753" "0" "10" "10" "26356014" "26356014" "subst" "0.478919" "02327" "MYO3A_000009" "g.26356014C>T" "" "" "" "MYO3A(NM_017433.5):c.1053+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26067085C>T" "" "benign" "" "0000539754" "0" "10" "10" "26356015" "26356015" "subst" "0.479227" "02327" "MYO3A_000010" "g.26356015A>G" "" "" "" "MYO3A(NM_017433.5):c.1053+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26067086A>G" "" "benign" "" "0000539755" "0" "10" "10" "26357747" "26357747" "subst" "0.48005" "02327" "MYO3A_000011" "g.26357747C>T" "" "" "" "MYO3A(NM_017433.5):c.1104C>T (p.Y368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26068818C>T" "" "benign" "" "0000539756" "0" "10" "10" "26357820" "26357820" "subst" "0.480153" "02327" "MYO3A_000013" "g.26357820C>T" "" "" "" "MYO3A(NM_017433.5):c.1170+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26068891C>T" "" "benign" "" "0000539757" "0" "50" "10" "26377316" "26377316" "subst" "1.626E-5" "02327" "MYO3A_000040" "g.26377316G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26088387G>A" "" "VUS" "" "0000539758" "0" "50" "10" "26409656" "26409656" "subst" "0.000243926" "01943" "MYO3A_000041" "g.26409656A>G" "" "" "" "MYO3A(NM_017433.5):c.1828A>G (p.I610V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26120727A>G" "" "VUS" "" "0000539759" "0" "10" "10" "26414394" "26414394" "subst" "0.00104506" "01943" "MYO3A_000042" "g.26414394T>C" "" "" "" "MYO3A(NM_017433.5):c.1971T>C (p.T657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26125465T>C" "" "benign" "" "0000539760" "0" "50" "10" "26417373" "26417373" "subst" "0" "01943" "MYO3A_000043" "g.26417373A>G" "" "" "" "MYO3A(NM_017433.5):c.2168A>G (p.N723S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26128444A>G" "" "VUS" "" "0000539761" "0" "50" "10" "26432389" "26432389" "subst" "0.000223617" "01943" "MYO3A_000044" "g.26432389A>T" "" "" "" "MYO3A(NM_017433.5):c.2275A>T (p.N759Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26143460A>T" "" "VUS" "" "0000539762" "0" "50" "10" "26432480" "26432480" "subst" "0" "02327" "MYO3A_000045" "g.26432480T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26143551T>A" "" "VUS" "" "0000539763" "0" "10" "10" "26434455" "26434455" "subst" "0.0639889" "02327" "MYO3A_000046" "g.26434455G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26145526G>T" "" "benign" "" "0000539764" "0" "30" "10" "26443697" "26443697" "subst" "2.44075E-5" "01943" "MYO3A_000047" "g.26443697G>A" "" "" "" "MYO3A(NM_017433.5):c.2738G>A (p.R913H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26154768G>A" "" "likely benign" "" "0000539765" "0" "50" "10" "26443733" "26443733" "subst" "6.11172E-5" "01943" "MYO3A_000048" "g.26443733C>T" "" "" "" "MYO3A(NM_017433.5):c.2774C>T (p.T925M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26154804C>T" "" "VUS" "" "0000539766" "0" "10" "10" "26446312" "26446312" "subst" "0.502995" "02327" "MYO3A_000014" "g.26446312G>A" "" "" "" "MYO3A(NM_017433.5):c.2867G>A (p.S956N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26157383G>A" "" "benign" "" "0000539767" "0" "90" "10" "26446343" "26446343" "del" "0" "02327" "MYO3A_000049" "g.26446343del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26157414del" "" "pathogenic" "" "0000539768" "0" "30" "10" "26457784" "26457784" "subst" "0.000114422" "01943" "MYO3A_000050" "g.26457784C>T" "" "" "" "MYO3A(NM_017433.5):c.3255C>T (p.S1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26168855C>T" "" "likely benign" "" "0000539770" "0" "90" "10" "26463226" "26463226" "subst" "0" "02327" "MYO3A_000052" "g.26463226G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26174297G>T" "" "pathogenic" "" "0000539771" "0" "30" "10" "26463266" "26463266" "subst" "4.87373E-5" "01943" "MYO3A_000053" "g.26463266G>A" "" "" "" "MYO3A(NM_017433.5):c.4073G>A (p.R1358Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26174337G>A" "" "likely benign" "" "0000539772" "0" "50" "10" "26465734" "26465734" "subst" "0" "02327" "MYO3A_000054" "g.26465734G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26176805G>T" "" "VUS" "" "0000539773" "0" "90" "10" "26491987" "26491987" "subst" "0.000113756" "01943" "MYO3A_000055" "g.26491987C>T" "" "" "" "MYO3A(NM_017433.5):c.4681C>T (p.R1561*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26203058C>T" "" "pathogenic" "" "0000539774" "0" "90" "10" "26500881" "26500881" "subst" "0.000171574" "01943" "GAD2_000001" "g.26500881C>T" "" "" "" "MYO3A(NM_017433.5):c.4840C>T (p.Q1614*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26211952C>T" "" "pathogenic" "" "0000612437" "0" "30" "10" "26243811" "26243811" "subst" "0.00151553" "01943" "MYO3A_000057" "g.26243811C>T" "" "" "" "MYO3A(NM_017433.5):c.177C>T (p.D59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25954882C>T" "" "likely benign" "" "0000612438" "0" "50" "10" "26285432" "26285432" "subst" "0" "02327" "MYO3A_000058" "g.26285432G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25996503G>A" "" "VUS" "" "0000612439" "0" "50" "10" "26377198" "26377198" "subst" "9.34541E-5" "01943" "MYO3A_000059" "g.26377198G>A" "" "" "" "MYO3A(NM_017433.5):c.1426G>A (p.A476T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26088269G>A" "" "VUS" "" "0000612440" "0" "50" "10" "26377331" "26377331" "subst" "0.00215927" "01943" "MYO3A_000060" "g.26377331C>T" "" "" "" "MYO3A(NM_017433.5):c.1559C>T (p.A520V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26088402C>T" "" "VUS" "" "0000612441" "0" "30" "10" "26417338" "26417338" "subst" "0.00158703" "01943" "MYO3A_000061" "g.26417338G>A" "" "" "" "MYO3A(NM_017433.5):c.2133G>A (p.L711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26128409G>A" "" "likely benign" "" "0000612442" "0" "50" "10" "26455055" "26455055" "subst" "0" "01943" "MYO3A_000027" "g.26455055C>A" "" "" "" "MYO3A(NM_017433.5):c.3059C>A (p.A1020D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26166126C>A" "" "VUS" "" "0000622369" "0" "30" "10" "26241154" "26241154" "subst" "4.06934E-5" "01943" "MYO3A_000056" "g.26241154T>C" "" "" "" "MYO3A(NM_017433.5):c.115T>C (p.L39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25952225T>C" "" "likely benign" "" "0000622370" "0" "30" "10" "26491947" "26491947" "subst" "0.000166575" "01943" "MYO3A_000062" "g.26491947T>C" "" "" "" "MYO3A(NM_017433.5):c.4641T>C (p.S1547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26203018T>C" "" "likely benign" "" "0000641106" "1" "55" "10" "26241040" "26241040" "subst" "5.30378E-5" "00004" "MYO3A_000063" "g.26241040A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.25952111A>G" "" "VUS" "" "0000641107" "1" "55" "10" "26243804" "26243804" "subst" "0.000704684" "00004" "MYO3A_000064" "g.26243804A>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.25954875A>C" "" "VUS" "" "0000641108" "1" "55" "10" "26305808" "26305808" "subst" "1.62452E-5" "00004" "MYO3A_000065" "g.26305808T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26016879T>C" "" "VUS" "" "0000641109" "1" "99" "10" "26305820" "26305820" "subst" "8.12275E-6" "00004" "MYO3A_000066" "g.26305820C>A" "" "{PMID:Choi 2013:23990876}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26016891C>A" "" "pathogenic (recessive)" "" "0000641110" "1" "33" "10" "26305829" "26305829" "subst" "0.000255879" "00004" "MYO3A_000067" "g.26305829A>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26016900A>T" "" "likely benign" "" "0000641111" "1" "55" "10" "26310502" "26310502" "subst" "3.65583E-5" "00004" "MYO3A_000068" "g.26310502C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26021573C>T" "" "VUS" "" "0000641112" "1" "55" "10" "26310580" "26310581" "ins" "0" "00004" "MYO3A_000069" "g.26310580_26310581insTA" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26021651_26021652insTA" "" "VUS" "" "0000641113" "1" "99" "10" "26312949" "26312949" "subst" "0" "00004" "MYO3A_000070" "g.26312949A>G" "" "{DB:DVD}, {PMID:Walsh 2002:12032315}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26024020A>G" "" "pathogenic" "" "0000641114" "1" "99" "10" "26315356" "26315356" "subst" "4.87658E-5" "00004" "MYO3A_000071" "g.26315356A>C" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26026427A>C" "" "pathogenic" "" "0000641115" "1" "33" "10" "26355988" "26355988" "subst" "4.06359E-6" "00004" "MYO3A_000072" "g.26355988A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26067059A>G" "" "likely benign" "" "0000641116" "1" "55" "10" "26356002" "26356002" "subst" "7.31791E-5" "00004" "MYO3A_000073" "g.26356002A>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26067073A>C" "" "VUS" "" "0000641117" "1" "11" "10" "26356014" "26356015" "inv" "0" "00004" "MYO3A_000074" "g.26356014_26356015inv" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26067085_26067086inv" "" "benign" "" "0000641118" "1" "33" "10" "26357723" "26357723" "subst" "0" "00004" "MYO3A_000075" "g.26357723G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26068794G>A" "" "likely benign" "" "0000641119" "1" "33" "10" "26359144" "26359144" "subst" "0.000337904" "00004" "MYO3A_000076" "g.26359144G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26070215G>A" "" "likely benign" "" "0000641120" "1" "33" "10" "26377272" "26377272" "subst" "0.000251932" "00004" "MYO3A_000077" "g.26377272G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26088343G>A" "" "likely benign" "" "0000641121" "1" "33" "10" "26377331" "26377331" "subst" "0.00215927" "00004" "MYO3A_000060" "g.26377331C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26088402C>T" "" "likely benign" "" "0000641123" "1" "33" "10" "26385560" "26385560" "subst" "2.44099E-5" "00004" "MYO3A_000079" "g.26385560C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26096631C>G" "" "likely benign" "" "0000641124" "1" "99" "10" "26409593" "26409593" "subst" "0" "00004" "MYO3A_000080" "g.26409593G>A" "" "{DB:DVD}, {PMID:Walsh 2002:12032315}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26120664G>A" "" "pathogenic" "" "0000641125" "1" "99" "10" "26409647" "26409647" "subst" "0" "00004" "MYO3A_000081" "g.26409647G>T" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26120718G>T" "" "pathogenic" "" "0000641126" "1" "55" "10" "26432389" "26432389" "subst" "0.000223617" "00004" "MYO3A_000044" "g.26432389A>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26143460A>T" "" "VUS" "" "0000641127" "1" "55" "10" "26432519" "26432519" "subst" "0" "00004" "MYO3A_000082" "g.26432519A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26143590A>G" "" "VUS" "" "0000641128" "1" "55" "10" "26443678" "26443678" "subst" "8.13862E-6" "00004" "MYO3A_000083" "g.26443678G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26154749G>A" "" "VUS" "" "0000641129" "1" "55" "10" "26446294" "26446294" "subst" "7.72238E-5" "00004" "MYO3A_000084" "g.26446294G>A" "" "{DB:DVD}, {PMID:Shearer 2013:23804846}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26157365G>A" "" "VUS" "" "0000641130" "1" "55" "10" "26455082" "26455082" "subst" "2.4378E-5" "00004" "MYO3A_000085" "g.26455082A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26166153A>G" "" "VUS" "" "0000641131" "1" "99" "10" "26457655" "26457655" "subst" "5.7E-5" "00004" "MYO3A_000086" "g.26457655T>G" "" "{DB:DVD}, {PMID:Walsh 2002:12032315}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26168726T>G" "" "pathogenic" "" "0000641132" "1" "99" "10" "26457658" "26457658" "subst" "0" "00004" "MYO3A_000087" "g.26457658T>G" "" "{DB:DVD}, {PMID:Walsh 2002:12032315}, {PMID:Shearer 1993:20301607}, {PMID:Walsh 2011:21165622}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26168729T>G" "" "pathogenic" "" "0000641133" "1" "33" "10" "26462731" "26462731" "subst" "0.000642308" "00004" "MYO3A_000088" "g.26462731G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26173802G>A" "" "likely benign" "" "0000641134" "1" "33" "10" "26462778" "26462778" "subst" "0.000187446" "00004" "MYO3A_000089" "g.26462778G>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26173849G>T" "" "likely benign" "" "0000641135" "1" "77" "10" "26463053" "26463053" "subst" "0" "00004" "MYO3A_000090" "g.26463053C>A" "" "{DB:DVD}, {PMID:Ji 2014:25342930}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26174124C>A" "" "likely pathogenic" "" "0000641136" "1" "33" "10" "26463238" "26463238" "subst" "6.09375E-5" "00004" "MYO3A_000091" "g.26463238G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26174309G>C" "" "likely benign" "" "0000641137" "1" "33" "10" "26465686" "26465686" "subst" "2.03255E-5" "00004" "MYO3A_000092" "g.26465686T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26176757T>C" "" "likely benign" "" "0000641138" "1" "55" "10" "26490215" "26490215" "subst" "5.58957E-5" "00004" "MYO3A_000093" "g.26490215C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.26201286C>G" "" "VUS" "" "0000647880" "1" "10" "10" "26305773" "26305773" "subst" "0.0030786" "03575" "MYO3A_000094" "g.26305773C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs33968748}" "Germline" "" "rs33968748" "0" "" "" "g.26016844C>T" "" "benign" "" "0000647881" "1" "50" "10" "26310456" "26310456" "subst" "0.000227505" "03575" "MYO3A_000095" "g.26310456G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs3737274}" "Germline" "" "rs3737274" "0" "" "" "g.26021527G>A" "" "VUS" "" "0000647882" "1" "10" "10" "26434455" "26434455" "subst" "0.0639889" "03575" "MYO3A_000046" "g.26434455G>T" "163/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "163 heterozygous; {DB:CLININrs33947968}" "Germline" "" "rs33947968" "0" "" "" "g.26145526G>T" "" "benign" "" "0000647883" "1" "50" "10" "26446294" "26446294" "subst" "7.72238E-5" "03575" "MYO3A_000084" "g.26446294G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs143371522}" "Germline" "" "rs143371522" "0" "" "" "g.26157365G>A" "" "VUS" "" "0000647885" "1" "10" "10" "26457662" "26457662" "subst" "0.00223514" "03575" "MYO3A_000096" "g.26457662G>A" "83/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "83 heterozygous; {DB:CLININrs35447806}" "Germline" "" "rs35447806" "0" "" "" "g.26168733G>A" "" "benign" "" "0000647886" "1" "30" "10" "26463052" "26463052" "subst" "0.00942729" "03575" "MYO3A_000097" "g.26463052C>A" "74/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "74 heterozygous; {DB:CLININrs35575696}" "Germline" "" "rs35575696" "0" "" "" "g.26174123C>A" "" "likely benign" "" "0000647887" "1" "50" "10" "26501385" "26501385" "subst" "0" "03575" "MYO3A_000098" "g.26501385G>A" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs72787376}" "Germline" "" "rs72787376" "0" "" "" "g.26212456G>A" "" "VUS" "" "0000656468" "0" "50" "10" "26315441" "26315441" "subst" "8.12777E-6" "01943" "MYO3A_000099" "g.26315441G>A" "" "" "" "MYO3A(NM_017433.5):c.933G>A (p.M311I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26026512G>A" "" "VUS" "" "0000656469" "0" "50" "10" "26500881" "26500881" "subst" "0.000171574" "02327" "GAD2_000001" "g.26500881C>T" "" "" "" "MYO3A(NM_017433.5):c.4840C>T (p.Q1614*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26211952C>T" "" "VUS" "" "0000660455" "21" "70" "10" "26310562" "26310562" "subst" "0" "02404" "MYO3A_000100" "g.26310562T>C" "" "Doll et al., 2020\r\n{PMID:Doll 2020:32519820}" "" "" "" "Germline" "yes" "" "" "" "" "g.26021633T>C" "" "likely pathogenic" "" "0000669056" "3" "10" "10" "26434455" "26434455" "subst" "0.0639889" "03575" "MYO3A_000046" "g.26434455G>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs33947968}" "Germline" "" "rs33947968" "0" "" "" "g.26145526G>T" "" "benign" "" "0000669057" "3" "10" "10" "26457662" "26457662" "subst" "0.00223514" "03575" "MYO3A_000096" "g.26457662G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs35447806}" "Germline" "" "rs35447806" "0" "" "" "g.26168733G>A" "" "benign" "" "0000669058" "3" "30" "10" "26463052" "26463052" "subst" "0.00942729" "03575" "MYO3A_000097" "g.26463052C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs35575696}" "Germline" "" "rs35575696" "0" "" "" "g.26174123C>A" "" "likely benign" "" "0000678831" "0" "90" "10" "26315400" "26315400" "subst" "0.000117845" "01943" "MYO3A_000101" "g.26315400C>T" "" "" "" "MYO3A(NM_017433.5):c.892C>T (p.Q298*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678832" "0" "30" "10" "26315414" "26315414" "subst" "7.31464E-5" "01943" "MYO3A_000102" "g.26315414G>A" "" "" "" "MYO3A(NM_017433.5):c.906G>A (p.T302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684776" "0" "30" "10" "26482157" "26482157" "subst" "0.00372637" "00004" "MYO3A_000103" "g.26482157A>G" "frequency 0.062" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.26193228A>G" "" "likely benign" "" "0000690707" "0" "90" "10" "26385371" "26385371" "del" "0" "01943" "MYO3A_000104" "g.26385371del" "" "" "" "MYO3A(NM_017433.5):c.1624delC (p.L542*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690708" "0" "90" "10" "26417451" "26417451" "del" "0" "01943" "MYO3A_000105" "g.26417451del" "" "" "" "MYO3A(NM_017433.5):c.2246delT (p.V749Gfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722789" "0" "50" "10" "26443693" "26443693" "subst" "3.66095E-5" "01943" "MYO3A_000106" "g.26443693A>G" "" "" "" "MYO3A(NM_017433.5):c.2734A>G (p.T912A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722790" "0" "50" "10" "26462906" "26462906" "subst" "0" "01943" "MYO3A_000107" "g.26462906A>G" "" "" "" "MYO3A(NM_017433.5):c.3713A>G (p.Q1238R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734677" "10" "90" "10" "26414513" "26414513" "subst" "0" "04006" "MYO3A_000024" "g.26414513T>G" "" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "" "" "plus nine affected family members reported (not tested)" "Germline" "?" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734680" "20" "90" "10" "26414513" "26414513" "subst" "0" "04006" "MYO3A_000024" "g.26414513T>G" "" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "" "" "plus eight affected family members reported (not tested)" "Germline" "?" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734940" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "" "" "seven affected family members tested" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734941" "0" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "" "" "seven affected family members tested" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734942" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "" "" "seven affected family members tested" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734943" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "" "" "seven affected family members tested" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734944" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "" "" "seven affected family members tested" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734945" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "" "" "seven affected family members tested" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734948" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{DOI:Bueno 2021:10.1038/s41431-021-00891-0}" "" "" "seven affected family members tested" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734955" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734959" "20" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734963" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734966" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734968" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734971" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734974" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734976" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734978" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000734980" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735366" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735369" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735371" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735373" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735374" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735375" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735378" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735380" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735381" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735382" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735383" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735384" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735385" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735386" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735387" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735388" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735389" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735390" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735391" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735392" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735393" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735394" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735395" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000735396" "11" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000736051" "20" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000736052" "21" "90" "10" "26414513" "26414513" "subst" "0" "04012" "MYO3A_000024" "g.26414513T>G" "" "{PMID:Dantas 2018:29880844}" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000736898" "1" "90" "10" "26414513" "26414513" "subst" "0" "00784" "MYO3A_000024" "g.26414513T>G" "" "Bueno et al., 2020, submitted" "" "" "" "Germline" "yes" "rs1564573788" "0" "" "" "g.26125584T>G" "{CV:617675}" "pathogenic (dominant)" "ACMG" "0000804395" "0" "30" "10" "26446418" "26446418" "subst" "0.000626179" "01943" "MYO3A_000108" "g.26446418G>T" "" "" "" "MYO3A(NM_017433.5):c.2973G>T (p.R991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804396" "0" "50" "10" "26463374" "26463374" "subst" "1.6248E-5" "01943" "MYO3A_000109" "g.26463374A>G" "" "" "" "MYO3A(NM_017433.5):c.4181A>G (p.Y1394C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804397" "0" "50" "10" "26491895" "26491895" "subst" "0.000544499" "01943" "MYO3A_000110" "g.26491895A>T" "" "" "" "MYO3A(NM_017433.5):c.4589A>T (p.Q1530L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000830845" "2" "90" "10" "26385335" "26385335" "dup" "0" "00006" "MYO3A_000078" "g.26385335dup" "" "{PMID:Choi 2013:23990876}" "" "1582_1583insT" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000836600" "0" "50" "10" "26432389" "26432389" "subst" "0" "03779" "MYO3A_000111" "g.26432389A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000845514" "0" "50" "10" "26315422" "26315422" "subst" "2.43787E-5" "00000" "MYO3A_000112" "g.26315422T>C" "Novel" "{PMID:Borràs 2013:23534816}" "" "c.914T>C" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000852475" "0" "50" "10" "26446299" "26446299" "subst" "8.12777E-6" "02327" "MYO3A_000115" "g.26446299A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861886" "0" "90" "10" "26241115" "26241116" "delins" "0" "02327" "MYO3A_000113" "g.26241115_26241116delinsTA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861887" "0" "30" "10" "26436440" "26436440" "subst" "4.47649E-5" "01943" "MYO3A_000114" "g.26436440G>A" "" "" "" "MYO3A(NM_017433.5):c.2587G>A (p.D863N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000902335" "0" "90" "10" "0" "0" ";" "0" "00006" "MYO3A_000116" "g.[NC_000023.10:g.31676156_qter]delins[GGTA;g.26236355_qter]" "" "{PMID:Szucs 2022:36361862}" "" "" "" "DUPLICATE record" "" "" "0" "" "" "" "" "VUS" "" "0000902337" "0" "90" "10" "0" "0" "" "0" "00006" "MYO3A_000117" "g.pter_26236353delins[NC_000023.10:g.pter_31676155]" "" "{PMID:Szucs 2022:36361862}" "" "" "" "De novo" "" "" "0" "" "t(X;10)(p21.1;p12.1)" "" "" "VUS" "" "0000913267" "0" "90" "10" "26315400" "26315400" "subst" "0.000117845" "02327" "MYO3A_000101" "g.26315400C>T" "" "" "" "MYO3A(NM_017433.5):c.892C>T (p.Q298*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000944367" "0" "70" "10" "26457639" "26457639" "subst" "0" "00006" "MYO3A_000120" "g.26457639A>G" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.26168710A>G" "" "likely pathogenic (dominant)" "" "0000944395" "0" "90" "10" "26446248" "26446248" "subst" "3.65785E-5" "00006" "MYO3A_000119" "g.26446248A>C" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.26157319A>C" "" "VUS" "" "0000978995" "0" "50" "10" "26286158" "26286158" "subst" "1.62743E-5" "01804" "MYO3A_000121" "g.26286158C>T" "" "" "" "MYO3A(NM_017433.5):c.479C>T (p.(Thr160Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978996" "0" "30" "10" "26305773" "26305773" "subst" "0.0030786" "01804" "MYO3A_000094" "g.26305773C>T" "" "" "" "MYO3A(NM_017433.5):c.533C>T (p.(Thr178Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978997" "0" "30" "10" "26377297" "26377297" "subst" "0.000243847" "01804" "MYO3A_000122" "g.26377297T>C" "" "" "" "MYO3A(NM_017433.5):c.1525T>C (p.(Tyr509His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998244" "0" "50" "10" "26490193" "26490193" "subst" "0" "01804" "MYO3A_000123" "g.26490193G>A" "" "" "" "MYO3A(NM_017433.4):c.4546-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037860" "0" "30" "10" "26243804" "26243804" "subst" "0.000704684" "01804" "MYO3A_000064" "g.26243804A>C" "" "" "" "MYO3A(NM_017433.5):c.170A>C (p.(Asp57Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037861" "0" "50" "10" "26310581" "26310582" "ins" "0" "01804" "MYO3A_000037" "g.26310581_26310582insTA" "" "" "" "MYO3A(NM_001368265.1):c.735_736insTA (p.(Asp246Ter)), MYO3A(NM_017433.5):c.731+3_731+4insAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037862" "0" "30" "10" "26359144" "26359144" "subst" "0.000337904" "01804" "MYO3A_000076" "g.26359144G>A" "" "" "" "MYO3A(NM_017433.5):c.1275G>A (p.(Gln425=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045517" "3" "90" "10" "26315400" "26315400" "subst" "0.000117845" "04656" "MYO3A_000101" "g.26315400C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.26026471C>T" "" "pathogenic (recessive)" "ACMG" "0001046235" "0" "70" "10" "26285512" "26285512" "subst" "0" "02327" "MYO3A_000124" "g.26285512G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001053515" "0" "50" "10" "26490215" "26490215" "subst" "5.58957E-5" "01804" "MYO3A_000093" "g.26490215C>G" "" "" "" "MYO3A(NM_017433.5):c.4567C>G (p.(Arg1523Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053516" "0" "50" "10" "26492008" "26492008" "subst" "0" "01804" "MYO3A_000125" "g.26492008C>T" "" "" "" "MYO3A(NM_017433.5):c.4702C>T (p.(Gln1568*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MYO3A ## Count = 193 "{{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}}" "0000089946" "00014176" "90" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Arg331*)" "11" "0000089947" "00014176" "90" "1193" "0" "1193" "0" "c.1193C>A" "r.(?)" "p.(Ser398*)" "13" "0000248792" "00014176" "10" "1042" "0" "1042" "0" "c.1042A>G" "r.(?)" "p.(Ile348Val)" "" "0000248916" "00014176" "10" "3850" "0" "3850" "0" "c.3850A>T" "r.(?)" "p.(Thr1284Ser)" "" "0000249140" "00014176" "10" "1053" "12" "1053" "12" "c.1053+12A>G" "r.(=)" "p.(=)" "" "0000254502" "00014176" "30" "4465" "0" "4465" "0" "c.4465A>G" "r.(?)" "p.(Ile1489Val)" "" "0000254602" "00014176" "30" "810" "0" "810" "0" "c.810A>G" "r.(?)" "p.(Lys270=)" "" "0000296227" "00014176" "10" "1053" "11" "1053" "11" "c.1053+11C>T" "r.(=)" "p.(=)" "" "0000296228" "00014176" "10" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Tyr368=)" "" "0000296229" "00014176" "10" "1105" "0" "1105" "0" "c.1105G>A" "r.(?)" "p.(Val369Ile)" "" "0000296230" "00014176" "10" "1170" "7" "1170" "7" "c.1170+7C>T" "r.(=)" "p.(=)" "" "0000296231" "00014176" "10" "2867" "0" "2867" "0" "c.2867G>A" "r.(?)" "p.(Ser956Asn)" "" "0000296232" "00014176" "10" "3937" "0" "3937" "0" "c.3937C>A" "r.(?)" "p.(Arg1313Ser)" "" "0000296233" "00014176" "10" "956" "0" "956" "0" "c.956G>A" "r.(?)" "p.(Arg319His)" "" "0000302691" "00014176" "10" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Glu1197Lys)" "" "0000302692" "00014176" "30" "3729" "0" "3729" "0" "c.3729G>A" "r.(?)" "p.(Arg1243=)" "" "0000302693" "00014176" "30" "4250" "0" "4250" "0" "c.4250C>T" "r.(?)" "p.(Thr1417Ile)" "" "0000302695" "00014176" "30" "753" "0" "753" "0" "c.753G>A" "r.(?)" "p.(Arg251=)" "" "0000321457" "00014176" "50" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Val186Ile)" "" "0000337639" "00014176" "70" "732" "-2" "732" "-2" "c.732-2A>C" "r.spl?" "p.?" "" "0000340758" "00014176" "10" "3597" "0" "3597" "0" "c.3597G>A" "r.(?)" "p.(Glu1199=)" "" "0000341091" "00014176" "50" "3059" "0" "3059" "0" "c.3059C>A" "r.(?)" "p.(Ala1020Asp)" "" "0000341845" "00014176" "10" "3937" "0" "3937" "0" "c.3937C>A" "r.(?)" "p.(Arg1313Ser)" "" "0000343941" "00014176" "50" "4794" "0" "4794" "0" "c.4794C>G" "r.(?)" "p.(Asp1598Glu)" "" "0000346270" "00014176" "50" "2353" "0" "2353" "0" "c.2353G>T" "r.(?)" "p.(Gly785Cys)" "" "0000346698" "00014176" "10" "1042" "0" "1042" "0" "c.1042A>G" "r.(?)" "p.(Ile348Val)" "" "0000346757" "00014176" "50" "151" "0" "151" "0" "c.151A>G" "r.(?)" "p.(Ile51Val)" "" "0000347286" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "" "0000349270" "00014176" "10" "3850" "0" "3850" "0" "c.3850A>T" "r.(?)" "p.(Thr1284Ser)" "" "0000350203" "00014176" "50" "2495" "0" "2495" "0" "c.2495A>T" "r.(?)" "p.(Tyr832Phe)" "" "0000350515" "00014176" "10" "1105" "0" "1105" "0" "c.1105G>A" "r.(?)" "p.(Val369Ile)" "" "0000539742" "00014176" "90" "320" "0" "320" "0" "c.320C>G" "r.(?)" "p.(Ser107Ter)" "" "0000539743" "00014176" "50" "349" "0" "349" "0" "c.349A>C" "r.(?)" "p.(Lys117Gln)" "" "0000539744" "00014176" "50" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Glu124Lys)" "" "0000539745" "00014176" "50" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Asn155Asp)" "" "0000539746" "00014176" "30" "546" "0" "546" "0" "c.546G>T" "r.(?)" "p.(Arg182=)" "" "0000539747" "00014176" "10" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(Asp208=)" "" "0000539748" "00014176" "10" "660" "0" "660" "0" "c.660C>T" "r.(?)" "p.(Ala220=)" "" "0000539749" "00014176" "50" "731" "4" "731" "5" "c.731+4_731+5insTA" "r.spl?" "p.?" "" "0000539750" "00014176" "10" "731" "20" "731" "20" "c.731+20G>A" "r.(=)" "p.(=)" "" "0000539752" "00014176" "10" "956" "0" "956" "0" "c.956G>A" "r.(?)" "p.(Arg319His)" "" "0000539753" "00014176" "10" "1053" "11" "1053" "11" "c.1053+11C>T" "r.(=)" "p.(=)" "" "0000539754" "00014176" "10" "1053" "12" "1053" "12" "c.1053+12A>G" "r.(=)" "p.(=)" "" "0000539755" "00014176" "10" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Tyr368=)" "" "0000539756" "00014176" "10" "1170" "7" "1170" "7" "c.1170+7C>T" "r.(=)" "p.(=)" "" "0000539757" "00014176" "50" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Arg515Gln)" "" "0000539758" "00014176" "50" "1828" "0" "1828" "0" "c.1828A>G" "r.(?)" "p.(Ile610Val)" "" "0000539759" "00014176" "10" "1971" "0" "1971" "0" "c.1971T>C" "r.(?)" "p.(Thr657=)" "" "0000539760" "00014176" "50" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(Asn723Ser)" "" "0000539761" "00014176" "50" "2275" "0" "2275" "0" "c.2275A>T" "r.(?)" "p.(Asn759Tyr)" "" "0000539762" "00014176" "50" "2366" "0" "2366" "0" "c.2366T>A" "r.(?)" "p.(Leu789Gln)" "" "0000539763" "00014176" "10" "2497" "0" "2497" "0" "c.2497G>T" "r.(?)" "p.(Ala833Ser)" "" "0000539764" "00014176" "30" "2738" "0" "2738" "0" "c.2738G>A" "r.(?)" "p.(Arg913His)" "" "0000539765" "00014176" "50" "2774" "0" "2774" "0" "c.2774C>T" "r.(?)" "p.(Thr925Met)" "" "0000539766" "00014176" "10" "2867" "0" "2867" "0" "c.2867G>A" "r.(?)" "p.(Ser956Asn)" "" "0000539767" "00014176" "90" "2898" "0" "2898" "0" "c.2898del" "r.(?)" "p.(Val968PhefsTer19)" "" "0000539768" "00014176" "30" "3255" "0" "3255" "0" "c.3255C>T" "r.(?)" "p.(Ser1085=)" "" "0000539770" "00014176" "90" "4033" "0" "4033" "0" "c.4033G>T" "r.(?)" "p.(Glu1345Ter)" "" "0000539771" "00014176" "30" "4073" "0" "4073" "0" "c.4073G>A" "r.(?)" "p.(Arg1358Gln)" "" "0000539772" "00014176" "50" "4398" "0" "4398" "0" "c.4398G>T" "r.(?)" "p.(Lys1466Asn)" "" "0000539773" "00014176" "90" "4681" "0" "4681" "0" "c.4681C>T" "r.(?)" "p.(Arg1561Ter)" "" "0000539774" "00014176" "90" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Gln1614Ter)" "" "0000612437" "00014176" "30" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(Asp59=)" "" "0000612438" "00014176" "50" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Gly106Glu)" "" "0000612439" "00014176" "50" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Ala476Thr)" "" "0000612440" "00014176" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Ala520Val)" "" "0000612441" "00014176" "30" "2133" "0" "2133" "0" "c.2133G>A" "r.(?)" "p.(Leu711=)" "" "0000612442" "00014176" "50" "3059" "0" "3059" "0" "c.3059C>A" "r.(?)" "p.(Ala1020Asp)" "" "0000622369" "00014176" "30" "115" "0" "115" "0" "c.115T>C" "r.(?)" "p.(Leu39=)" "" "0000622370" "00014176" "30" "4641" "0" "4641" "0" "c.4641T>C" "r.(?)" "p.(Ser1547=)" "" "0000641106" "00014176" "55" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "3" "0000641107" "00014176" "55" "170" "0" "170" "0" "c.170A>C" "r.(?)" "p.(Asp57Ala)" "4" "0000641108" "00014176" "55" "568" "0" "568" "0" "c.568T>C" "r.(?)" "p.(Phe190Leu)" "7" "0000641109" "00014176" "99" "580" "0" "580" "0" "c.580C>A" "r.(?)" "p.(Pro194Thr)" "7" "0000641110" "00014176" "33" "585" "4" "585" "4" "c.585+4A>T" "r.spl?" "p.?" "7i" "0000641111" "00014176" "55" "656" "0" "656" "0" "c.656C>T" "r.(?)" "p.(Thr219Met)" "8" "0000641112" "00014176" "55" "731" "3" "731" "4" "c.731+3_731+4insTA" "r.spl?" "p.?" "8i" "0000641113" "00014176" "99" "732" "-2" "732" "-2" "c.732-2A>G" "r.spl?" "p.?" "8i" "0000641114" "00014176" "99" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Gln283Pro)" "10" "0000641115" "00014176" "33" "1038" "0" "1038" "0" "c.1038A>G" "r.(=)" "p.(=)" "11" "0000641116" "00014176" "55" "1052" "0" "1052" "0" "c.1052A>C" "r.(?)" "p.(Glu351Ala)" "11" "0000641117" "00014176" "11" "1053" "11" "1053" "12" "c.1053+11_1053+12inv" "r.(=)" "p.(=)" "11i" "0000641118" "00014176" "33" "1080" "0" "1080" "0" "c.1080G>A" "r.(=)" "p.(=)" "12" "0000641119" "00014176" "33" "1275" "0" "1275" "0" "c.1275G>A" "r.(=)" "p.(=)" "13" "0000641120" "00014176" "33" "1500" "0" "1500" "0" "c.1500G>A" "r.(=)" "p.(=)" "15" "0000641121" "00014176" "33" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Ala520Val)" "15" "0000641123" "00014176" "33" "1725" "0" "1725" "0" "c.1725C>G" "r.(=)" "p.(=)" "17" "0000641124" "00014176" "99" "1777" "-12" "1777" "-12" "c.1777-12G>A" "r.(=)" "p.(=)" "17i" "0000641125" "00014176" "99" "1819" "0" "1819" "0" "c.1819G>T" "r.(?)" "p.(Val607Phe)" "18" "0000641126" "00014176" "55" "2275" "0" "2275" "0" "c.2275A>T" "r.(?)" "p.(Asn759Tyr)" "21" "0000641127" "00014176" "55" "2405" "0" "2405" "0" "c.2405A>G" "r.(?)" "p.(Gln802Arg)" "21" "0000641128" "00014176" "55" "2719" "0" "2719" "0" "c.2719G>A" "r.(?)" "p.(Asp907Asn)" "25" "0000641129" "00014176" "55" "2849" "0" "2849" "0" "c.2849G>A" "r.(?)" "p.(Arg950His)" "26" "0000641130" "00014176" "55" "3086" "0" "3086" "0" "c.3086A>G" "r.(?)" "p.(Asp1029Gly)" "27" "0000641131" "00014176" "99" "3126" "0" "3126" "0" "c.3126T>G" "r.(?)" "p.(Tyr1042*)" "28" "0000641132" "00014176" "99" "3129" "0" "3129" "0" "c.3129T>G" "r.(?)" "p.(Tyr1043*)" "28" "0000641133" "00014176" "33" "3538" "0" "3538" "0" "c.3538G>A" "r.(?)" "p.(Glu1180Lys)" "30" "0000641134" "00014176" "33" "3585" "0" "3585" "0" "c.3585G>T" "r.(=)" "p.(=)" "30" "0000641135" "00014176" "77" "3860" "0" "3860" "0" "c.3860C>A" "r.(?)" "p.(Pro1287His)" "30" "0000641136" "00014176" "33" "4045" "0" "4045" "0" "c.4045G>C" "r.(?)" "p.(Ala1349Pro)" "30" "0000641137" "00014176" "33" "4350" "0" "4350" "0" "c.4350T>C" "r.(=)" "p.(=)" "31" "0000641138" "00014176" "55" "4567" "0" "4567" "0" "c.4567C>G" "r.(?)" "p.(Arg1523Gly)" "33" "0000647880" "00014176" "10" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Thr178Ile)" "" "0000647881" "00014176" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Asp204Asn)" "" "0000647882" "00014176" "10" "2497" "0" "2497" "0" "c.2497G>T" "r.(?)" "p.(Ala833Ser)" "" "0000647883" "00014176" "50" "2849" "0" "2849" "0" "c.2849G>A" "r.(?)" "p.(Arg950His)" "" "0000647885" "00014176" "10" "3133" "0" "3133" "0" "c.3133G>A" "r.(?)" "p.(Val1045Met)" "" "0000647886" "00014176" "30" "3859" "0" "3859" "0" "c.3859C>A" "r.(?)" "p.(Pro1287Thr)" "" "0000647887" "00014176" "50" "5344" "0" "5344" "0" "c.*493G>A" "r.(=)" "p.(=)" "" "0000656468" "00014176" "50" "933" "0" "933" "0" "c.933G>A" "r.(?)" "p.(Met311Ile)" "" "0000656469" "00014176" "50" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Gln1614Ter)" "" "0000660455" "00014176" "70" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Leu239Pro)" "8" "0000669056" "00014176" "10" "2497" "0" "2497" "0" "c.2497G>T" "r.(?)" "p.(Ala833Ser)" "" "0000669057" "00014176" "10" "3133" "0" "3133" "0" "c.3133G>A" "r.(?)" "p.(Val1045Met)" "" "0000669058" "00014176" "30" "3859" "0" "3859" "0" "c.3859C>A" "r.(?)" "p.(Pro1287Thr)" "" "0000678831" "00014176" "90" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Gln298Ter)" "" "0000678832" "00014176" "30" "906" "0" "906" "0" "c.906G>A" "r.(?)" "p.(Thr302=)" "" "0000684776" "00014176" "30" "4462" "0" "4462" "0" "c.4462A>G" "r.(?)" "p.(Lys1488Glu)" "" "0000690707" "00014176" "90" "1624" "0" "1624" "0" "c.1624del" "r.(?)" "p.(Leu542Ter)" "" "0000690708" "00014176" "90" "2246" "0" "2246" "0" "c.2246del" "r.(?)" "p.(Val749GlyfsTer10)" "" "0000722789" "00014176" "50" "2734" "0" "2734" "0" "c.2734A>G" "r.(?)" "p.(Thr912Ala)" "" "0000722790" "00014176" "50" "3713" "0" "3713" "0" "c.3713A>G" "r.(?)" "p.(Gln1238Arg)" "" "0000734677" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734680" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734940" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734941" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734942" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734943" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734944" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734945" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734948" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734955" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734959" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734963" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734966" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734968" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734971" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734974" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734976" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734978" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000734980" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735366" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735369" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735371" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735373" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735374" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735375" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735378" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735380" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735381" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735382" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735383" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735384" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735385" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735386" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735387" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735388" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735389" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735390" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735391" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735392" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735393" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735394" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735395" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000735396" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000736051" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000736052" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000736898" "00014176" "90" "2090" "0" "2090" "0" "c.2090T>G" "r.(?)" "p.(Leu697Trp)" "19" "0000804395" "00014176" "30" "2973" "0" "2973" "0" "c.2973G>T" "r.(?)" "p.(Arg991=)" "" "0000804396" "00014176" "50" "4181" "0" "4181" "0" "c.4181A>G" "r.(?)" "p.(Tyr1394Cys)" "" "0000804397" "00014176" "50" "4589" "0" "4589" "0" "c.4589A>T" "r.(?)" "p.(Gln1530Leu)" "" "0000830845" "00014176" "90" "1588" "0" "1588" "0" "c.1588dup" "r.(?)" "p.(Tyr530Leufs*9)" "" "0000836600" "00014176" "50" "2275" "0" "2275" "0" "c.2275A>G" "r.(?)" "p.(Asn759Asp)" "" "0000845514" "00014176" "50" "914" "0" "914" "0" "c.914T>C" "r.(?)" "p.(Ile305Thr)" "10" "0000852475" "00014176" "50" "2854" "0" "2854" "0" "c.2854A>C" "r.(?)" "p.(Ile952Leu)" "" "0000861886" "00014176" "90" "76" "0" "77" "0" "c.76_77delinsTA" "r.(?)" "p.(Thr26*)" "" "0000861887" "00014176" "30" "2587" "0" "2587" "0" "c.2587G>A" "r.(?)" "p.(Asp863Asn)" "" "0000902335" "00014176" "90" "0" "0" "0" "0" "c.-17-4668_*573{1}" "r.?" "p.?" "2i_35_" "0000902337" "00014176" "90" "0" "0" "0" "0" "c.-360_-17-4669{1}" "r.?" "p.?" "_1_2i" "0000913267" "00014176" "90" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Gln298Ter)" "" "0000944367" "00014176" "70" "3112" "-2" "3112" "-2" "c.3112-2A>G" "r.spl" "p.?" "" "0000944395" "00014176" "90" "2803" "0" "2803" "0" "c.2803A>C" "r.(?)" "p.(Met935Leu)" "" "0000978995" "00014176" "50" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Thr160Met)" "" "0000978996" "00014176" "30" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Thr178Ile)" "" "0000978997" "00014176" "30" "1525" "0" "1525" "0" "c.1525T>C" "r.(?)" "p.(Tyr509His)" "" "0000998244" "00014176" "50" "4546" "-1" "4546" "-1" "c.4546-1G>A" "r.spl?" "p.?" "" "0001037860" "00014176" "30" "170" "0" "170" "0" "c.170A>C" "r.(?)" "p.(Asp57Ala)" "" "0001037861" "00014176" "50" "731" "4" "731" "5" "c.731+4_731+5insTA" "r.spl?" "p.?" "" "0001037862" "00014176" "30" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(=)" "" "0001045517" "00014176" "90" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Gln298*)" "10" "0001046235" "00014176" "70" "397" "0" "397" "0" "c.397G>T" "r.(?)" "p.(Glu133*)" "" "0001053515" "00014176" "50" "4567" "0" "4567" "0" "c.4567C>G" "r.(?)" "p.(Arg1523Gly)" "" "0001053516" "00014176" "50" "4702" "0" "4702" "0" "c.4702C>T" "r.(?)" "p.(Gln1568*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 99 "{{screeningid}}" "{{variantid}}" "0000059139" "0000089946" "0000059139" "0000089947" "0000285364" "0000641106" "0000285365" "0000641107" "0000285366" "0000641108" "0000285367" "0000641109" "0000285367" "0000830845" "0000285368" "0000641110" "0000285369" "0000641111" "0000285370" "0000641112" "0000285371" "0000641113" "0000285372" "0000641114" "0000285373" "0000641115" "0000285374" "0000641116" "0000285375" "0000641117" "0000285376" "0000641118" "0000285377" "0000641119" "0000285378" "0000641120" "0000285379" "0000641121" "0000285381" "0000641123" "0000285382" "0000641124" "0000285383" "0000641125" "0000285384" "0000641126" "0000285385" "0000641127" "0000285386" "0000641128" "0000285387" "0000641129" "0000285388" "0000641130" "0000285389" "0000641131" "0000285390" "0000641132" "0000285391" "0000641133" "0000285392" "0000641134" "0000285393" "0000641135" "0000285394" "0000641136" "0000285395" "0000641137" "0000285396" "0000641138" "0000291191" "0000647880" "0000291192" "0000647881" "0000291193" "0000647882" "0000291194" "0000647883" "0000291196" "0000647885" "0000291197" "0000647886" "0000291198" "0000647887" "0000297791" "0000660455" "0000305368" "0000669056" "0000305369" "0000669057" "0000305370" "0000669058" "0000309874" "0000684776" "0000335778" "0000734677" "0000335782" "0000734680" "0000336029" "0000734940" "0000336030" "0000734941" "0000336031" "0000734942" "0000336032" "0000734943" "0000336033" "0000734944" "0000336034" "0000734945" "0000336037" "0000734948" "0000336044" "0000734955" "0000336048" "0000734959" "0000336052" "0000734963" "0000336055" "0000734966" "0000336057" "0000734968" "0000336060" "0000734971" "0000336063" "0000734974" "0000336065" "0000734976" "0000336068" "0000734978" "0000336070" "0000734980" "0000336207" "0000735366" "0000336209" "0000735369" "0000336212" "0000735371" "0000336213" "0000735373" "0000336214" "0000735374" "0000336215" "0000735375" "0000336217" "0000735378" "0000336218" "0000735380" "0000336219" "0000735381" "0000336220" "0000735382" "0000336221" "0000735383" "0000336222" "0000735384" "0000336223" "0000735385" "0000336224" "0000735386" "0000336225" "0000735387" "0000336226" "0000735388" "0000336227" "0000735389" "0000336228" "0000735390" "0000336229" "0000735391" "0000336230" "0000735392" "0000336231" "0000735393" "0000336232" "0000735394" "0000336233" "0000735395" "0000336234" "0000735396" "0000336607" "0000736051" "0000336608" "0000736052" "0000337267" "0000736898" "0000408603" "0000845514" "0000425522" "0000902335" "0000425522" "0000902337" "0000443008" "0000944367" "0000443036" "0000944395" "0000467634" "0001045517"