### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYO15A) # 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}}" "MYO15A" "myosin XVA" "17" "p11.2" "unknown" "NG_011634.1" "UD_132085368008" "{PMID:Vona 2014:24875298}" "https://www.LOVD.nl/MYO15A" "Deafness Gene Mutation Database \r\nDeafness Variation Database \r\nMoBiDiC " "1" "7594" "51168" "602666" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the MYO15A database using: www.LOVD.nl/MYO15A
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/MYO15A_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00000" "2012-04-05 00:00:00" "00110" "2018-07-20 14:40:08" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000746" "MYO15A" "myosin XVA" "001" "NM_016239.3" "" "NP_057323.3" "" "" "" "-338" "11525" "10593" "18012020" "18083116" "00000" "2012-09-13 12:51:02" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{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" "01004" "SMS" "Smith-Magenis syndrome (SMS)" "AD;IC" "182290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02115" "USH1" "Usher syndrome, type I (USH-1)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-11 13:56:28" "02298" "DFNB3" "deafness, autosomal recessive, type 3 (DFNB-3)" "AR" "600316" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02908" "DFNB49" "deafness, autosomal recessive, type 49 (DFNB-49)" "AR" "610153" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05414" "USH2" "Usher syndrome, type II (USH-2)" "" "" "" "" "" "00006" "2018-04-02 14:40:34" "00006" "2021-12-11 13:56:28" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MYO15A" "02298" "MYO15A" "05400" "MYO15A" "05458" ## Individuals ## Do not remove or alter this header ## ## Count = 248 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00002996" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00003002" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00059023" "" "" "" "2" "" "01542" "Karen Avraham lab, Tel Aviv University, unpublished data" "" "" "yes" "Israel" "" "0" "" "" "Arab" "" "00059038" "" "" "" "2" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "yes" "Israel" "" "0" "" "" "Arab" "" "00059039" "" "" "" "2" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "yes" "Israel" "" "0" "" "" "Arab" "" "00059040" "" "" "" "2" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Jewish-Bukharian" "" "00059041" "" "" "" "1" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "186 controls" "" "" "Israel" "" "0" "" "" "" "" "00059042" "" "" "" "2" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "yes" "Israel" "" "0" "" "" "Arab" "" "00059132" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059155" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059156" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059157" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059158" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059159" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059160" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00060233" "" "" "" "2" "" "01542" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Israel" "" "0" "" "" "Iran;Jewish" "" "00060235" "" "" "" "2" "" "01542" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00060292" "" "" "" "2" "" "01542" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "171 controls" "" "-" "Israel" "" "0" "" "" "Iran;Jewish" "" "00060294" "" "" "" "3" "" "00006" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "240 controls" "-" "" "Israel" "" "0" "" "" "" "" "00080035" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080038" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080041" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080052" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00081020" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00132291" "" "" "" "8" "" "00088" "{PMID:Eisenberger 2018:29309402}" "4-generation family, 8 affected (4F, 4M)" "M" "no" "Germany" "" "0" "" "" "white" "FamPatIV2" "00154503" "" "" "" "1" "" "02393" "" "" "M" "yes" "Israel" "" "0" "" "3" "" "" "00163216" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "M" "" "France" "" "0" "" "" "" "S1680" "00163511" "" "" "" "1" "" "02416" "{PMID:Liburd et al., 2001:11735029}" "proband" "" "" "" "" "0" "" "" "" "" "00163512" "" "" "" "1" "" "02416" "{PMID:Kalay et al., 2007:17853461}" "proband" "F" "" "Turkey" "" "0" "" "" "" "" "00163513" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "proband" "F" "" "France" "" "0" "" "" "" "" "00163514" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2011:21917145}" "proband" "M" "" "Israel" "" "0" "" "" "" "" "00163515" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2011:21917145}" "relative" "M" "" "" "" "0" "" "" "" "" "00163516" "" "" "" "1" "" "02416" "{PMID:Vozzi 2014:24657061}" "proband" "M" "" "Qatar" "" "0" "" "" "" "" "00163517" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "proband" "M" "" "France" "" "0" "" "" "" "" "00163518" "" "" "" "1" "" "02416" "{PMID:Duman et al., 2011:21117948}" "proband" "" "" "Turkey" "" "0" "" "" "" "" "00163519" "" "" "" "1" "" "02416" "{PMID:Vona et al., 2014:24875298}" "proband" "M" "" "Germany" "" "0" "" "" "" "" "00163520" "" "" "" "1" "" "02416" "{PMID:Miyagawa et al., 2013:23967202}" "proband" "M" "" "Japan" "" "0" "" "" "" "" "00163521" "" "" "" "3" "" "02416" "{PMID:Bashir 2012:22245518}, {PMID:Naz 2017:27573290}" "family, 3 affected" "F" "" "Pakistan" "" "0" "" "" "" "HLRB3" "00163522" "" "" "" "1" "" "02416" "{PMID:Miyagawa et al., 2013:24130743}" "proband" "M" "" "Japan" "" "0" "" "" "" "" "00163523" "" "" "" "1" "" "02416" "{PMID:Miyagawa et al., 2013:24130743}" "relative" "M" "" "Japan" "" "0" "" "" "" "" "00163524" "" "" "" "1" "" "02421" "" "proband" "M" "" "Israel" "" "0" "" "" "Palestinian Arab" "" "00163525" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2014:24105371}" "proband" "F" "" "Palestine" "" "0" "" "" "" "" "00163526" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2014:24105371}" "relative" "M" "" "Palestine" "" "0" "" "" "" "" "00163527" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "proband" "F" "" "France" "" "0" "" "" "" "" "00163528" "" "" "" "1" "" "02416" "{PMID:Fattahi et al,.2012:22736430}" "" "" "" "Iran" "" "0" "" "" "sistani (southeastern Iran)" "" "00163529" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "proband" "F" "" "" "" "0" "" "" "" "" "00163530" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "proband" "" "" "China" "" "0" "" "" "" "" "00163531" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00163532" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00163533" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "proband" "M" "" "" "" "0" "" "" "" "" "00163534" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "M" "" "France" "" "0" "" "" "" "S1670" "00163535" "" "" "" "1" "" "02416" "{PMID:Woo et al,.2013:23865914}" "proband" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00163536" "" "" "" "1" "" "02416" "{PMID:Liburd et al., 2001:11735029}" "proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00163537" "" "" "" "1" "" "02416" "{PMID:Liburd et al., 2001:11735029}" "proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00163538" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "India" "" "0" "" "" "" "" "00163539" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163540" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00163541" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163542" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163543" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163544" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163545" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163546" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163547" "" "" "" "1" "" "02416" "{PMID:Gu, Guo et al., 2014:24853665}" "proband" "" "" "China" "" "0" "" "" "" "" "00163548" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163549" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "M" "" "France" "" "0" "" "" "" "S1649" "00163550" "" "" "" "1" "" "02416" "{PMID:Cengiz et al., 2010:20642360}" "proband" "F" "" "Turkey" "" "0" "" "" "" "" "00163551" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2011:21917145}" "proband" "M" "" "Palestine" "" "0" "" "" "" "" "00163552" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2011:21917145}" "relative" "M" "" "Palestine" "" "0" "" "" "" "" "00163553" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2011:21917145}" "relative" "F" "" "Palestine" "" "0" "" "" "" "" "00163554" "" "" "" "1" "" "02416" "{PMID:Diaz-Horta et al., 2012:23226338}" "" "" "" "Turkey" "" "0" "" "" "" "" "00163555" "" "" "" "1" "" "02416" "{PMID:Woo et al,.2013:23865914}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00163556" "" "" "" "1" "" "02416" "{PMID:Gu, Guo et al., 2014:24853665}" "proband" "" "" "China" "" "0" "" "" "" "" "00163557" "" "" "" "1" "" "02416" "{PMID:Miyagawa et al., 2013:23967202}" "proband" "M" "" "Japan" "" "0" "" "" "" "" "00163558" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "India" "" "0" "" "" "" "" "00163559" "" "" "" "1" "" "02416" "{PMID:Cengiz et al., 2010:20642360}" "proband" "F" "" "Turkey" "" "0" "" "" "" "" "00163560" "" "" "" "1" "" "02416" "{PMID20642360 :Cengiz et al,.2010}" "" "" "" "Turkey" "" "0" "" "" "" "" "00163561" "" "" "" "1" "" "02416" "{PMID:Diaz-Horta et al., 2012:23226338}" "" "" "" "Turkey" "" "0" "" "" "" "" "00163562" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163563" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "F" "" "France" "" "0" "" "" "" "S1523" "00163565" "" "" "" "1" "" "02416" "{PMID:Fattahi et al,.2012:22736430}" "" "" "" "Iran" "" "0" "" "" "Kord (western Iran)" "" "00163566" "" "" "" "1" "" "02416" "{PMID:Belguith et al., 2009:19309289}" "proband" "F" "" "Tunisia" "" "0" "" "" "" "" "00163567" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163568" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163569" "" "" "" "1" "" "02416" "{PMID:Fattahi et al,.2012:22736430}" "" "" "" "Iran" "" "0" "" "" "Fars (central Iran)" "" "00163570" "" "" "" "1" "" "02416" "{PMID:Riahi et al., 2014:24926664}" "proband" "M" "" "Tunisia" "" "0" "" "" "" "" "00163571" "" "" "" "1" "" "02416" "{PMID:Riahi et al., 2014:24926664}" "relative" "F" "" "Tunisia" "" "0" "" "" "" "" "00163572" "" "" "" "1" "" "02416" "{PMID:Kalay et al., 2007:17853461}" "proband" "M" "" "Turkey" "" "0" "" "" "" "" "00163573" "" "" "" "1" "" "02416" "{PMID:Duman et al., 2011:21117948}" "proband" "" "" "Turkey" "" "0" "" "" "" "" "00163574" "" "" "" "1" "" "02416" "{PMID:Cengiz et al., 2010:20642360}" "proband" "M" "" "Turkey" "" "0" "" "" "" "" "00163575" "" "" "" "1" "" "02416" "{PMID:Cengiz et al., 2010:20642360}" "proband" "M" "" "Turkey" "" "0" "" "" "" "" "00163576" "" "" "" "1" "" "02416" "{PMID:Fattahi et al,.2012:22736430}" "" "" "" "Iran" "" "0" "" "" "Azeri (northwestern Iran)" "" "00163577" "" "" "" "1" "" "02416" "{PMID:Gao et al,.2013:24206587}" "" "" "" "China" "" "0" "" "" "" "" "00163578" "" "" "" "1" "" "02416" "{PMID:Fattahi et al,.2012:22736430}" "" "" "" "Iran" "" "0" "" "" "Azeri (northwestern Iran)" "" "00163579" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163580" "" "" "" "1" "" "02416" "{PMID:Shearer et al., 2009:19274735}" "proband" "M" "" "Iran" "" "0" "" "" "" "" "00163581" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "proband" "" "" "China" "" "0" "" "" "" "" "00163582" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "proband" "F" "" "India" "" "0" "" "" "" "" "00163583" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "relative" "M" "" "India" "" "0" "" "" "" "" "00163584" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "relative" "M" "" "India" "" "0" "" "" "" "" "00163585" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "relative" "F" "" "India" "" "0" "" "" "" "" "00163586" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "proband" "F" "" "Indonesia" "" "0" "" "" "" "" "00163587" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "relative" "F" "" "Indonesia" "" "0" "" "" "" "" "00163588" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "proband" "M" "" "Indonesia" "" "0" "" "" "" "" "00163589" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "relative" "F" "" "Indonesia" "" "0" "" "" "" "" "00163590" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "proband" "F" "" "Indonesia" "" "0" "" "" "" "" "00163591" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "relative" "F" "" "Indonesia" "" "0" "" "" "" "" "00163592" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "proband" "" "" "China" "" "0" "" "" "" "" "00163593" "" "" "" "1" "" "02416" "{PMID:Shearer et al., 2009:19274735}" "proband" "F" "" "Iran" "" "0" "" "" "" "" "00163594" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163596" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163597" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163598" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Turkey" "" "0" "" "" "" "" "00163599" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "proband" "" "" "China" "" "0" "" "" "" "" "00163600" "" "" "" "1" "" "02416" "{PMID:Shahin, Walsh et al., 2010:19888295}" "proband" "" "" "Palestine" "" "0" "" "" "" "" "00163601" "" "" "" "1" "" "02416" "{PMID:Shahin, Walsh et al., 2010:19888295}" "relative" "F" "" "Palestine" "" "0" "" "" "" "" "00163602" "" "" "" "1" "" "02416" "{PMID:Shahin, Walsh et al., 2010:19888295}" "relative" "F" "" "Palestine" "" "0" "" "" "" "" "00163603" "" "" "" "1" "" "02416" "{PMID:Shahin, Walsh et al., 2010:19888295}" "relative" "M" "" "Palestine" "" "0" "" "" "" "" "00163604" "" "" "" "1" "" "02416" "{PMID:Shahin, Walsh et al., 2010:19888295}" "proband" "F" "" "Palestine" "" "0" "" "" "" "" "00163605" "" "" "" "1" "" "02416" "{PMID:Shahin, Walsh et al., 2010:19888295}" "relative" "F" "" "Palestine" "" "0" "" "" "" "" "00163606" "" "" "" "1" "" "02416" "{PMID:Shahin, Walsh et al., 2010:19888295}" "relative" "F" "" "Palestine" "" "0" "" "" "" "" "00163607" "" "" "" "1" "" "02416" "{PMID:Riahi et al., 2014:24926664}" "proband" "F" "" "Tunisia" "" "0" "" "" "" "" "00163608" "" "" "" "1" "" "02416" "{PMID:Belguith et al., 2009:19309289}" "proband" "F" "" "Tunisia" "" "0" "" "" "" "" "00163609" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "proband" "F" "" "Algeria" "" "0" "" "" "" "" "00163610" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "proband" "F" "" "India" "" "0" "" "" "" "" "00163611" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "relative" "M" "" "India" "" "0" "" "" "" "" "00163612" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "relative" "M" "" "India" "" "0" "" "" "" "" "00163613" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "relative" "F" "" "India" "" "0" "" "" "" "" "00163614" "" "" "" "1" "" "02416" "{PMID:Wang et al., 1998:9603736}" "relative" "F" "" "India" "" "0" "" "" "" "" "00163615" "" "" "" "1" "" "02416" "{PMID:Duman et al., 2011:21117948}" "proband" "" "" "Turkey" "" "0" "" "" "" "" "00163616" "" "" "" "1" "" "02416" "{PMID:Liburd et al., 2001:11735029}" "proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00163617" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163618" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163619" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163620" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163621" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00163622" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163623" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163624" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163625" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163626" "" "" "" "1" "" "02416" "{PMID:Yang et al., 2013:23767834}" "proband" "" "" "China" "" "0" "" "" "" "" "00163627" "" "" "" "1" "" "02393" "" "" "" "" "" "" "0" "" "" "" "" "00163628" "" "" "" "1" "" "02421" "" "proband" "F" "" "Israel" "" "0" "" "" "Iran;Jewish" "" "00163629" "" "" "" "1" "" "02416" "{PMID:Brownstein et al., 2014:24105371}" "proband" "F" "" "Iran" "" "0" "" "" "" "" "00163630" "" "" "" "1" "" "02416" "{PMID:Fattahi et al,.2012:22736430}" "" "" "" "Iran" "" "0" "" "" "Fars (central Iran)" "" "00163631" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "proband" "F" "" "Pakistan" "" "0" "" "" "" "" "00163632" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00163633" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163634" "" "" "" "1" "" "02416" "{PMID:Belguith et al., 2009:19309289}" "proband" "F" "" "Tunisia" "" "0" "" "" "" "" "00163635" "" "" "" "1" "" "02416" "{PMID:Nal et al., 2007:17546645}" "proband" "" "" "Pakistan" "" "0" "" "" "" "" "00163636" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "proband" "M" "" "France" "" "0" "" "" "" "" "00163637" "" "" "" "1" "" "02416" "{PMID:Ebermann et al., 2010:20440071}" "proband" "M" "" "France" "" "0" "" "" "" "" "00163638" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00163639" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163640" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163641" "" "" "" "1" "" "02416" "{PMID:Shafique et al., 2014:24949729}" "relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00163642" "" "" "" "1" "" "02416" "{PMID:Lezirovitz et al., 2008:17851452}" "proband" "F" "" "Brazil" "" "0" "" "" "" "" "00163643" "" "" "" "1" "" "02416" "{PMID:Duman et al., 2011:21117948}" "proband" "" "" "Turkey" "" "0" "" "" "" "" "00163644" "" "" "" "1" "" "02416" "{PMID:Duman et al., 2011:21117948}" "proband" "" "" "Turkey" "" "0" "" "" "" "" "00163645" "" "" "" "1" "" "02416" "" "proband" "F" "" "France" "" "0" "" "" "" "" "00163646" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "proband" "M" "" "France" "" "0" "" "" "" "S1633" "00163647" "" "" "" "1" "" "02416" "{PMID:Lezirovitz et al., 2008:17851452}" "proband" "F" "" "Brazil" "" "0" "" "" "" "" "00163648" "" "" "" "1" "" "02416" "{PMID:Lezirovitz et al., 2008:17851452}" "proband" "M" "" "Brazil" "" "0" "" "" "" "" "00170803" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband - Age 8 at the time of the study - possible USH2" "M" "" "France" "" "0" "" "" "" "S1682" "00291652" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291653" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291654" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291655" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291656" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295816" "" "" "" "1" "" "03607" "" "" "M" "?" "Korea, South (Republic)" "28y" "0" "" "" "Asian" "SB246-482" "00304569" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327054" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327060" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327062" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327072" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327083" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327103" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327114" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327115" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327116" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327117" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327119" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327120" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327121" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327122" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327128" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327149" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327380" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327386" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00327387" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00331303" "" "" "" "1" "" "00000" "{PMID:Chen 2018:29692870}" "" "" "" "China" "" "0" "" "" "Uyghur" "FamJ02" "00331304" "" "" "" "1" "" "00000" "{PMID:Chen 2018:29692870}" "" "" "" "China" "" "0" "" "" "Uyghur" "FamJ07" "00331305" "" "" "" "1" "" "00000" "{PMID:Chen 2018:29692870}" "" "" "" "China" "" "0" "" "" "Uyghur" "FamJ16" "00331619" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "sporadic case" "" "no" "China" "" "0" "" "" "" "19791" "00372516" "" "" "" "4" "" "00006" "{PMID:Chen 2015:26011067}" "3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F;M" "" "China" "" "0" "" "" "Uyghur" "KS1" "00376340" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" "" "00380701" "" "" "" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "no" "Brazil" "" "" "" "" "" "M1" "00428321" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Ghana" "" "0" "" "" "Africa" "Fam9" "00428322" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Ghana" "" "0" "" "" "Africa" "Fam11" "00428323" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, affected sister/brother (F, M), unaffected heterozygous carrier mother" "M" "no" "Ghana" "" "0" "" "" "Africa" "Fam13" "00428324" "" "" "" "3" "" "04147" "{PMID:Taghipour-Sheshdeh 2019:29752989}" "5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "Arab" "FamPat22" "00428326" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 2 affected sisters" "F" "no" "Ghana" "" "0" "" "" "Africa" "Fam21" "00428372" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 2 affected brothers (2M). Only affected individuals were screened." "M" "no" "Ghana" "" "0" "" "" "Africa" "Fam22" "00428373" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 2 affected (1F, 1M), unaffected heterozygous carrier father" "M" "no" "Ghana" "" "0" "" "" "Africa" "Fam23" "00428378" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 2 affected brothers" "M" "no" "Ghana" "" "0" "" "" "Africa" "Fam34" "00428379" "" "" "" "2" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 2 affected brothers" "M" "no" "Ghana" "" "0" "" "" "Africa" "Fam50" "00441110" "" "" "" "3" "" "00006" "{PMID:Ammar-Khodja 2015:26029705}" "3-generation family, 3 affected brothers (3M), unaffected heterozygous parents/relatives" "M" "yes" "Algeria" "" "0" "" "" "" "Fam6" "00441117" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamM21958" "00441118" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamHL1822" "00441327" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1382" "00441328" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1657" "00441329" "" "" "" "4" "" "00006" "{PMID:Richard 2019: 30303587}" "5-generation family, 4 affected (3F, M)" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1693" "00441330" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1780" "00441331" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF016" "00441467" "" "" "" "5" "" "00006" "{PMID:Mahmood 2021:33997018}" "6-generation family, 5 affected (3F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Punjab" "LUHL-011" "00441470" "" "" "" "4" "" "00006" "{PMID:Vanniya 2022:34374074}" "2-generation family, 4 affected (2F, 2M); father" "M" "" "India" "" "0" "" "" "" "DXDPTM56PatI1" "00441471" "" "" "00441470" "1" "" "00006" "{PMID:Vanniya 2022:34374074}" "mother" "F" "" "India" "" "0" "" "" "" "DXDPTM56PatI2" "00441472" "" "" "00441470" "1" "" "00006" "{PMID:Vanniya 2022:34374074}" "son" "M" "" "India" "" "0" "" "" "" "DXDPTM56PatII1" "00441624" "" "" "" "3" "" "00006" "{PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAM05" "00441625" "" "" "" "3" "" "00006" "{PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-06" "00441626" "" "" "" "6" "" "00006" "{PMID:Nal 2007:17546645}, {PMID:Naz 2017:27573290}" "family, 6 affected" "M" "" "Pakistan" "" "0" "" "" "Punjab" "HLAM07" "00441627" "" "" "" "4" "" "00006" "{PMID:Rehman 2016:27375115}, {PMID:Naz 2017:27573290}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-10" "00441628" "" "" "" "2" "" "00006" "{PMID:Naz 2017:27573290}" "family, 2 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-25" "00447213" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MISC-315" "00448264" "" "" "" "1" "" "04656" "" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00465539" "" "" "" "9" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465540" "" "" "" "8" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465541" "" "" "" "4" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465542" "" "" "" "3" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465543" "" "" "" "2" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465544" "" "" "" "2" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465545" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465546" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465547" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465548" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465549" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465550" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465551" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465552" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465553" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465554" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465555" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465556" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465557" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465558" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465559" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465560" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 248 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00002996" "00198" "00003002" "00198" "00059023" "02298" "00059038" "02298" "00059039" "02298" "00059040" "02298" "00059041" "00000" "00059042" "02298" "00059132" "00531" "00059155" "00531" "00059156" "00531" "00059157" "00531" "00059158" "00531" "00059159" "00531" "00059160" "00531" "00060233" "02298" "00060235" "02298" "00060292" "00000" "00060294" "00000" "00080035" "05103" "00080038" "05103" "00080041" "05103" "00080052" "05103" "00081020" "02298" "00132291" "06877" "00154503" "02298" "00163216" "00350" "00163511" "01004" "00163512" "05400" "00163513" "05414" "00163514" "05400" "00163515" "05400" "00163516" "05400" "00163517" "05103" "00163518" "05400" "00163519" "05400" "00163520" "05400" "00163521" "05400" "00163522" "05400" "00163523" "05400" "00163524" "05103" "00163525" "05400" "00163526" "05400" "00163527" "02115" "00163528" "05400" "00163529" "05103" "00163530" "05400" "00163531" "05400" "00163532" "05400" "00163533" "02115" "00163534" "05400" "00163535" "05103" "00163536" "05400" "00163537" "05400" "00163538" "05400" "00163539" "05400" "00163540" "05400" "00163541" "05400" "00163542" "05400" "00163543" "05400" "00163544" "05400" "00163545" "05400" "00163546" "05400" "00163547" "05400" "00163548" "05400" "00163549" "05400" "00163550" "05400" "00163551" "05400" "00163552" "05400" "00163553" "05400" "00163554" "05400" "00163555" "05400" "00163556" "05400" "00163557" "05400" "00163558" "05400" "00163559" "05400" "00163560" "05400" "00163561" "05400" "00163562" "05400" "00163563" "05400" "00163565" "05400" "00163566" "05400" "00163567" "05400" "00163568" "05400" "00163569" "05400" "00163570" "05400" "00163571" "05400" "00163572" "05400" "00163573" "05400" "00163574" "05400" "00163575" "05400" "00163576" "05400" "00163577" "05400" "00163578" "05400" "00163579" "05400" "00163580" "05400" "00163581" "05400" "00163582" "05400" "00163583" "05400" "00163584" "05400" "00163585" "05400" "00163586" "05400" "00163587" "05400" "00163588" "05400" "00163589" "05400" "00163590" "05400" "00163591" "05400" "00163592" "05400" "00163593" "05400" "00163594" "05400" "00163596" "05400" "00163597" "05400" "00163598" "05400" "00163599" "05400" "00163600" "05400" "00163601" "05400" "00163602" "05400" "00163603" "05400" "00163604" "05400" "00163605" "05400" "00163606" "05400" "00163607" "05400" "00163608" "05400" "00163609" "05414" "00163610" "05400" "00163611" "05400" "00163612" "05400" "00163613" "05400" "00163614" "05400" "00163615" "05400" "00163616" "05400" "00163617" "05400" "00163618" "05400" "00163619" "05400" "00163620" "05400" "00163621" "05400" "00163622" "05400" "00163623" "05400" "00163624" "05400" "00163625" "05400" "00163626" "05400" "00163627" "05400" "00163628" "05103" "00163629" "05400" "00163630" "05400" "00163631" "05400" "00163632" "05400" "00163633" "05400" "00163634" "05400" "00163635" "05400" "00163636" "05414" "00163637" "05414" "00163638" "05400" "00163639" "05400" "00163640" "05400" "00163641" "05400" "00163642" "05400" "00163643" "05400" "00163644" "05400" "00163645" "02115" "00163646" "05400" "00163647" "05400" "00163648" "05400" "00170803" "05458" "00291652" "00198" "00291653" "00198" "00291654" "00198" "00291655" "00198" "00291656" "00198" "00295816" "05103" "00304569" "00198" "00327054" "00350" "00327060" "00350" "00327062" "00350" "00327072" "00350" "00327083" "00350" "00327103" "00350" "00327114" "00350" "00327115" "00350" "00327116" "00350" "00327117" "00350" "00327119" "00350" "00327120" "00350" "00327121" "00350" "00327122" "00350" "00327128" "00350" "00327149" "00350" "00327380" "00350" "00327386" "00350" "00327387" "00350" "00331303" "05086" "00331304" "05086" "00331305" "05086" "00331619" "05086" "00372516" "05086" "00376340" "00198" "00380701" "05086" "00428321" "02298" "00428322" "02298" "00428323" "02298" "00428324" "02908" "00428326" "02298" "00428372" "02298" "00428373" "02298" "00428378" "02298" "00428379" "02298" "00441110" "05086" "00441117" "05086" "00441118" "05086" "00441327" "05086" "00441328" "05086" "00441329" "05086" "00441330" "05086" "00441331" "05086" "00441467" "05086" "00441470" "05086" "00441471" "05086" "00441472" "05086" "00441624" "05086" "00441625" "05086" "00441626" "05086" "00441627" "05086" "00441628" "05086" "00447213" "00198" "00448264" "02298" "00465539" "05086" "00465540" "05086" "00465541" "05086" "00465542" "05086" "00465543" "05086" "00465544" "05086" "00465545" "05086" "00465546" "05086" "00465547" "05086" "00465548" "05086" "00465549" "05086" "00465550" "05086" "00465551" "05086" "00465552" "05086" "00465553" "05086" "00465554" "05086" "00465555" "05086" "00465556" "05086" "00465557" "05086" "00465558" "05086" "00465559" "05086" "00465560" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00350, 00531, 01004, 01157, 02115, 02298, 02908, 05086, 05103, 05400, 05414, 05458, 06877 ## Count = 210 "{{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}}" "0000001847" "00198" "00002996" "00130" "Familial, autosomal recessive" "" "Retinitis pigmentosa (RP)" "" "" "" "" "" "" "" "" "" "" "" "0000001853" "00198" "00003002" "00130" "Isolated (sporadic)" "" "congenital, severe hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000045611" "02298" "00059023" "01542" "Familial, autosomal recessive" "" "congenital profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000045627" "02298" "00059038" "01542" "Familial, autosomal recessive" "" "Congenital, profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000045628" "02298" "00059039" "01542" "Familial, autosomal recessive" "" "Congenital, profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000045629" "02298" "00059040" "01542" "Familial, autosomal recessive" "" "Congenital, profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000045631" "02298" "00059042" "01542" "Familial, autosomal recessive" "" "congenital, profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000046721" "02298" "00060233" "01542" "Familial, autosomal recessive" "" "Congenital, profound" "" "" "" "" "" "" "" "" "" "" "" "0000046723" "02298" "00060235" "01542" "Familial, autosomal recessive" "" "Congenital, profound" "" "" "" "" "" "" "" "" "" "" "" "0000046735" "00531" "00059132" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060589" "02298" "00081020" "01758" "Familial, autosomal recessive" "" "Deafness, autosomal recessive 3 (OMIM:600316)" "" "" "" "" "" "" "" "" "" "" "" "0000127239" "02298" "00154503" "02393" "Familial, autosomal recessive" "" "Congenital profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000128353" "00350" "00163216" "02416" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA_12" "deafness, nonsyndromic (DFNA8/12)" "" "0000128648" "01004" "00163511" "02416" "Unknown" "" "Smith-Magenis Syndrome presenting hearing loss" "" "" "" "" "" "" "" "" "" "syndrome, Smith-Magenis (SMS)" "" "0000128649" "05400" "00163512" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128650" "05414" "00163513" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128651" "05400" "00163514" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128652" "05400" "00163515" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128653" "05400" "00163516" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128654" "05103" "00163517" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic (DFN)" "" "0000128655" "05400" "00163518" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128656" "05400" "00163519" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128657" "05400" "00163520" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128658" "05400" "00163521" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128659" "05400" "00163522" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128660" "05400" "00163523" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128661" "05103" "00163524" "02421" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic (DFN)" "" "0000128662" "05400" "00163525" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128663" "05400" "00163526" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128664" "02115" "00163527" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128665" "05400" "00163528" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128666" "05103" "00163529" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic (DFN)" "" "0000128667" "05400" "00163530" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128668" "05400" "00163531" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128669" "05400" "00163532" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128670" "02115" "00163533" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128671" "05400" "00163534" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128672" "05103" "00163535" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic (DFN)" "" "0000128673" "05400" "00163536" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128674" "05400" "00163537" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128675" "05400" "00163538" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128676" "05400" "00163539" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128677" "05400" "00163540" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128678" "05400" "00163541" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128679" "05400" "00163542" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128680" "05400" "00163543" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128681" "05400" "00163544" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128682" "05400" "00163545" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128683" "05400" "00163546" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128684" "05400" "00163547" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128685" "05400" "00163548" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128686" "05400" "00163549" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128687" "05400" "00163550" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128688" "05400" "00163551" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128689" "05400" "00163552" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128690" "05400" "00163553" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128691" "05400" "00163554" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128692" "05400" "00163555" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128693" "05400" "00163556" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128694" "05400" "00163557" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128695" "05400" "00163558" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128696" "05400" "00163559" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128697" "05400" "00163560" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128698" "05400" "00163561" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128699" "05400" "00163562" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128700" "05400" "00163563" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128702" "05400" "00163565" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128703" "05400" "00163566" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128704" "05400" "00163567" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128705" "05400" "00163568" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128706" "05400" "00163569" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128707" "05400" "00163570" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128708" "05400" "00163571" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128709" "05400" "00163572" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128710" "05400" "00163573" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128711" "05400" "00163574" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128712" "05400" "00163575" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128713" "05400" "00163576" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128714" "05400" "00163577" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128715" "05400" "00163578" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128716" "05400" "00163579" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128717" "05400" "00163580" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128718" "05400" "00163581" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128719" "05400" "00163582" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128720" "05400" "00163583" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128721" "05400" "00163584" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128722" "05400" "00163585" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128723" "05400" "00163586" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128724" "05400" "00163587" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128725" "05400" "00163588" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128726" "05400" "00163589" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128727" "05400" "00163590" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128728" "05400" "00163591" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128729" "05400" "00163592" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128730" "05400" "00163593" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128731" "05400" "00163594" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128733" "05400" "00163596" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128734" "05400" "00163597" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128735" "05400" "00163598" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128736" "05400" "00163599" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128737" "05400" "00163600" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128738" "05400" "00163601" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128739" "05400" "00163602" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128740" "05400" "00163603" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128741" "05400" "00163604" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128742" "05400" "00163605" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128743" "05400" "00163606" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128744" "05400" "00163607" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128745" "05400" "00163608" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128746" "05414" "00163609" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128747" "05400" "00163610" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128748" "05400" "00163611" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128749" "05400" "00163612" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128750" "05400" "00163613" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128751" "05400" "00163614" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128752" "05400" "00163615" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128753" "05400" "00163616" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128754" "05400" "00163617" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128755" "05400" "00163618" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128756" "05400" "00163619" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128757" "05400" "00163620" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128758" "05400" "00163621" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128759" "05400" "00163622" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128760" "05400" "00163623" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128761" "05400" "00163624" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128762" "05400" "00163625" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128763" "05400" "00163626" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128764" "05400" "00163627" "02393" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128765" "05103" "00163628" "02421" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic (DFN)" "" "0000128766" "05400" "00163629" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128767" "05400" "00163630" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128768" "05400" "00163631" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128769" "05400" "00163632" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128770" "05400" "00163633" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128771" "05400" "00163634" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128772" "05400" "00163635" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128773" "05414" "00163636" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128774" "05414" "00163637" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 2" "" "0000128775" "05400" "00163638" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128776" "05400" "00163639" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128777" "05400" "00163640" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128778" "05400" "00163641" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128779" "05400" "00163642" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128780" "05400" "00163643" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128781" "05400" "00163644" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128782" "02115" "00163645" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type 1" "" "0000128783" "05400" "00163646" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128784" "05400" "00163647" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000128785" "05400" "00163648" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-3" "deafness, autosomal recessive (DFNB)" "" "0000135664" "05458" "00170803" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000223288" "05103" "00295816" "03607" "Familial, autosomal recessive" "28y" "progressive hearing loss, postlingual onset" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000249497" "05086" "00331303" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000249498" "05086" "00331304" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000249499" "05086" "00331305" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000249811" "05086" "00331619" "00000" "Familial, autosomal recessive" "7y" "profound hearing loss (acouophone or cochlear implant)" "1y" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000267831" "05086" "00372516" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000271548" "00198" "00376340" "02551" "Unknown" "" "Severe hearing impairment (HP:0012714)" "" "" "" "" "" "" "" "" "" "" "" "0000274549" "05086" "00380701" "04006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000319225" "02298" "00428321" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0011474" "" "" "" "" "" "Non-syndromic hearing impairment" "Non-syndromic hearing impairment" "" "0000319226" "02298" "00428322" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0011474" "" "" "" "" "" "Non-syndromic hearing impairment" "Non-syndromic hearing impairment" "" "0000319227" "02298" "00428323" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0011474" "" "" "" "" "" "Non-syndromic hearing impairment" "Non-syndromic hearing impairment" "" "0000319233" "02908" "00428324" "04147" "Familial, autosomal recessive" "" "see paper; ..., bilateral hearing loss (moderate to profound)" "" "" "HP:0011474" "" "" "" "" "" "DFNB49" "non-syndromic hearing impairment" "" "0000319234" "02298" "00428326" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0011474" "" "" "" "" "" "Non-syndromic hearing impairment" "Non-syndromic hearing impairment" "" "0000319279" "02298" "00428372" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0011474" "" "" "" "" "" "Non-syndromic hearing impairment" "Non-syndromic hearing impairment" "" "0000319280" "02298" "00428373" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0011474" "" "" "" "" "" "Non-syndromic hearing impairment" "Non-syndromic hearing impairment" "" "0000319284" "02298" "00428378" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0011474" "" "" "" "" "" "Non-syndromic hearing Impairment" "Non-syndromic hearing Impairment" "" "0000319285" "02298" "00428379" "04147" "Familial, autosomal recessive" "" "" "" "" "HP:0011474" "" "" "" "" "" "Non-syndromic hearing Impairment" "Non-syndromic hearing Impairment" "" "0000330550" "05086" "00441110" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "profound deafness" "" "0000330554" "06877" "00132291" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNA73" "autosomal dominant non-syndromic hearing loss" "" "0000330557" "05086" "00441117" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330558" "05086" "00441118" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330767" "05086" "00441327" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330768" "05086" "00441328" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330769" "05086" "00441329" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330770" "05086" "00441330" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330771" "05086" "00441331" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330907" "05086" "00441467" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital hearing loss" "" "0000330910" "05086" "00441470" "00006" "Familial, autosomal recessive" "49y" "prelingual bilateral profound sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNB3" "hearing loss" "" "0000330911" "05086" "00441471" "00006" "Familial, autosomal recessive" "47y" "prelingual bilateral profound sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNB3" "hearing loss" "" "0000330912" "05086" "00441472" "00006" "Familial, autosomal recessive" "24y" "prelingual bilateral profound sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNB3" "hearing loss" "" "0000331033" "05086" "00441624" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331034" "05086" "00441625" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331035" "05086" "00441626" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331036" "05086" "00441627" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331037" "05086" "00441628" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000336412" "00198" "00447213" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000347560" "02298" "00448264" "04656" "Unknown" "" "severe hearing loss" "" "" "" "" "" "" "" "" "DFNB3" "hearing loss" "" "0000351087" "05086" "00465539" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351088" "05086" "00465540" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351089" "05086" "00465541" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351090" "05086" "00465542" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351091" "05086" "00465543" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351092" "05086" "00465544" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351093" "05086" "00465545" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351094" "05086" "00465546" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351095" "05086" "00465547" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351096" "05086" "00465548" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351097" "05086" "00465549" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351098" "05086" "00465550" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351099" "05086" "00465551" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351100" "05086" "00465552" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351101" "05086" "00465553" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351102" "05086" "00465554" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351103" "05086" "00465555" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351104" "05086" "00465556" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351105" "05086" "00465557" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351106" "05086" "00465558" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351107" "05086" "00465559" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351108" "05086" "00465560" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 248 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000002902" "00002996" "2" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000002908" "00003002" "3" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000058986" "00059023" "1" "01542" "01542" "2016-02-15 19:40:00" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059004" "00059038" "1" "01542" "01542" "2016-02-16 19:19:34" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059005" "00059039" "1" "01542" "01542" "2016-02-16 19:38:03" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059006" "00059040" "1" "01542" "01542" "2016-02-16 20:08:23" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059007" "00059041" "1" "01542" "00006" "2016-02-18 05:32:25" "" "" "SEQ-NG" "DNA" "blood" "" "0000059008" "00059042" "1" "01542" "01542" "2016-02-18 18:23:32" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059102" "00059132" "1" "01551" "01551" "2016-02-26 16:43:45" "" "" "SEQ;SEQ-NG-I" "DNA;RNA;protein" "" "" "0000059130" "00059155" "1" "01551" "01551" "2016-02-29 11:15:26" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059131" "00059156" "1" "01551" "01551" "2016-02-29 11:22:31" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059132" "00059157" "1" "01551" "01551" "2016-02-29 11:27:38" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059133" "00059158" "1" "01551" "01551" "2016-02-29 11:31:02" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059135" "00059159" "1" "01551" "01551" "2016-02-29 11:35:29" "00006" "2016-04-30 16:54:29" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059136" "00059160" "1" "01551" "01551" "2016-02-29 11:38:18" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060220" "00060233" "1" "01542" "01542" "2016-03-15 11:24:20" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060222" "00060235" "1" "01542" "01542" "2016-03-15 12:29:56" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060281" "00060292" "1" "01542" "00006" "2016-03-27 21:18:26" "" "" "SEQ" "DNA" "" "" "0000060283" "00060294" "1" "00006" "00006" "2016-03-28 09:31:08" "" "" "SEQ" "DNA" "" "" "0000080114" "00080035" "1" "01740" "01740" "2016-09-01 13:27:20" "" "" "SEQ-NG" "DNA" "" "" "0000080117" "00080038" "1" "01740" "01740" "2016-09-01 13:37:50" "" "" "SEQ-NG" "DNA" "" "" "0000080120" "00080041" "1" "01740" "01740" "2016-09-01 13:43:00" "" "" "SEQ-NG" "DNA" "" "" "0000080131" "00080052" "1" "01740" "01740" "2016-09-01 14:02:09" "" "" "SEQ-NG" "DNA" "" "" "0000081132" "00081020" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000133127" "00132291" "1" "00088" "00088" "2017-09-30 11:10:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000155361" "00154503" "1" "02393" "02393" "2018-03-02 11:34:38" "" "" "SEQ-NG" "DNA" "blood" "" "0000164081" "00163216" "1" "02416" "00110" "2017-08-14 17:28:19" "00110" "2017-12-06 10:04:41" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164376" "00163511" "1" "02416" "00110" "2012-04-20 18:03:15" "00110" "2013-03-21 09:01:09" "SEQ" "DNA" "" "" "0000164377" "00163512" "1" "02416" "00110" "2012-04-27 17:31:31" "" "" "SEQ" "DNA" "" "" "0000164378" "00163513" "1" "02416" "00110" "2012-07-05 16:26:53" "00110" "2014-02-06 10:22:53" "SEQ-NG-S;Southern" "DNA" "" "" "0000164379" "00163514" "1" "02416" "00110" "2012-04-16 16:57:22" "00110" "2015-01-21 10:53:18" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164380" "00163515" "1" "02416" "00110" "2015-01-21 11:02:03" "00110" "2015-01-21 11:04:55" "SEQ" "DNA" "" "" "0000164381" "00163516" "1" "02416" "00110" "2014-10-08 17:21:49" "00110" "2014-10-13 14:45:14" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164382" "00163517" "1" "02416" "00110" "2013-02-11 12:51:01" "00110" "2014-02-06 10:22:53" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164383" "00163518" "1" "02416" "00110" "2012-04-18 16:00:31" "" "" "SEQ" "DNA" "" "" "0000164384" "00163519" "1" "02416" "00110" "2014-08-05 09:44:33" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164385" "00163520" "1" "02416" "00110" "2015-01-20 17:33:11" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164386" "00163521" "1" "02416" "00110" "2012-04-16 17:30:31" "" "" "SEQ" "DNA" "" "" "0000164387" "00163522" "1" "02416" "00110" "2014-10-08 19:16:02" "00110" "2014-10-13 15:03:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164388" "00163523" "1" "02416" "00110" "2014-10-09 09:49:55" "00110" "2014-10-13 15:17:02" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164389" "00163524" "1" "02421" "02421" "2013-07-09 10:46:38" "00110" "2013-07-22 11:26:00" "SEQ-NG-S" "DNA" "" "" "0000164390" "00163525" "1" "02416" "00110" "2015-01-21 09:20:52" "00110" "2015-01-21 09:25:00" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164391" "00163526" "1" "02416" "00110" "2015-01-21 14:44:09" "" "" "SEQ" "DNA" "" "" "0000164392" "00163527" "1" "02416" "00110" "2013-02-08 16:51:53" "00110" "2014-02-06 10:22:53" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164393" "00163528" "1" "02416" "00110" "2013-12-17 09:43:17" "" "" "SEQ" "DNA" "" "" "0000164394" "00163529" "1" "02416" "00110" "2013-02-11 12:42:01" "00110" "2014-02-06 10:22:53" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164395" "00163530" "1" "02416" "00110" "2013-06-26 14:54:37" "00110" "2014-11-27 08:58:04" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164396" "00163531" "1" "02416" "00110" "2012-04-12 17:51:21" "" "" "SEQ" "DNA" "" "" "0000164397" "00163532" "1" "02416" "00110" "2012-04-13 09:18:54" "" "" "SEQ" "DNA" "" "" "0000164398" "00163533" "1" "02416" "00110" "2012-10-12 16:53:13" "00110" "2014-02-06 10:22:53" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164399" "00163534" "1" "02416" "00110" "2017-08-14 16:09:48" "00110" "2017-12-06 10:04:40" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164400" "00163535" "1" "02416" "00110" "2014-01-27 09:58:17" "" "" "SEQ" "DNA" "" "" "0000164401" "00163536" "1" "02416" "00110" "2012-04-12 15:11:37" "" "" "SEQ" "DNA" "" "" "0000164402" "00163537" "1" "02416" "00110" "2012-04-12 15:19:23" "" "" "SEQ" "DNA" "" "" "0000164403" "00163538" "1" "02416" "00110" "2012-04-13 09:26:14" "00110" "2012-04-26 15:57:54" "SEQ" "DNA" "" "" "0000164404" "00163539" "1" "02416" "00110" "2012-04-13 09:39:27" "00110" "2012-04-26 15:58:58" "SEQ" "DNA" "" "" "0000164405" "00163540" "1" "02416" "00110" "2014-10-10 17:53:03" "00110" "2014-10-13 15:27:10" "SEQ" "DNA" "" "" "0000164406" "00163541" "1" "02416" "00110" "2014-10-13 10:28:26" "00110" "2014-10-13 15:36:13" "SEQ" "DNA" "" "" "0000164407" "00163542" "1" "02416" "00110" "2014-10-13 10:36:35" "00110" "2014-10-13 15:50:35" "SEQ" "DNA" "" "" "0000164408" "00163543" "1" "02416" "00110" "2014-10-13 10:42:42" "00110" "2014-10-13 15:38:20" "SEQ" "DNA" "" "" "0000164409" "00163544" "1" "02416" "00110" "2014-10-13 11:14:04" "00110" "2014-10-13 15:40:05" "SEQ" "DNA" "" "" "0000164410" "00163545" "1" "02416" "00110" "2014-10-13 11:18:55" "00110" "2014-10-13 15:42:38" "SEQ" "DNA" "" "" "0000164411" "00163546" "1" "02416" "00110" "2014-10-13 11:23:47" "00110" "2014-10-13 15:44:46" "SEQ" "DNA" "" "" "0000164412" "00163547" "1" "02416" "00110" "2014-11-27 09:57:58" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164413" "00163548" "1" "02416" "00110" "2012-04-13 09:43:44" "" "" "SEQ" "DNA" "" "" "0000164414" "00163549" "1" "02416" "00110" "2017-08-14 16:05:37" "00110" "2017-12-06 10:04:40" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164415" "00163550" "1" "02416" "00110" "2012-04-20 11:51:43" "" "" "SEQ;SSCA" "DNA" "" "" "0000164416" "00163551" "1" "02416" "00110" "2012-04-16 12:12:50" "00110" "2015-01-21 10:21:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164417" "00163552" "1" "02416" "00110" "2015-01-21 10:16:59" "" "" "SEQ" "DNA" "" "" "0000164418" "00163553" "1" "02416" "00110" "2015-01-21 10:20:00" "" "" "SEQ" "DNA" "" "" "0000164419" "00163554" "1" "02416" "00110" "2013-12-30 09:37:15" "00110" "2014-10-13 12:33:49" "SEQ" "DNA" "" "" "0000164420" "00163555" "1" "02416" "00110" "2013-12-18 12:03:12" "00110" "2014-01-06 10:19:14" "SEQ" "DNA" "" "" "0000164421" "00163556" "1" "02416" "00110" "2014-11-27 11:16:55" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164422" "00163557" "1" "02416" "00110" "2015-01-20 17:58:00" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164423" "00163558" "1" "02416" "00110" "2012-04-13 09:48:42" "" "" "SEQ" "DNA" "" "" "0000164424" "00163559" "1" "02416" "00110" "2012-04-20 11:58:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000164425" "00163560" "1" "02416" "00110" "2013-12-30 09:55:59" "00110" "2014-01-06 10:18:54" "SEQ" "DNA" "" "" "0000164426" "00163561" "1" "02416" "00110" "2013-12-30 09:34:02" "00110" "2014-10-13 12:34:19" "SEQ" "DNA" "" "" "0000164427" "00163562" "1" "02416" "00110" "2012-04-13 10:04:07" "" "" "SEQ" "DNA" "" "" "0000164428" "00163563" "1" "02416" "00110" "2017-08-14 15:58:47" "00110" "2017-12-06 10:04:40" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164430" "00163565" "1" "02416" "00110" "2013-12-17 09:58:45" "" "" "SEQ" "DNA" "" "" "0000164431" "00163566" "1" "02416" "00110" "2012-04-20 14:13:59" "00110" "2012-04-20 14:14:18" "SEQ" "DNA" "" "" "0000164432" "00163567" "1" "02416" "00110" "2012-04-13 09:56:01" "" "" "SEQ" "DNA" "" "" "0000164433" "00163568" "1" "02416" "00110" "2012-04-13 10:11:33" "" "" "SEQ" "DNA" "" "" "0000164434" "00163569" "1" "02416" "00110" "2013-12-12 10:55:27" "" "" "SEQ" "DNA" "" "" "0000164435" "00163570" "1" "02416" "00110" "2014-10-14 18:15:09" "00110" "2014-10-14 18:15:39" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164436" "00163571" "1" "02416" "00110" "2014-10-15 08:29:22" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164437" "00163572" "1" "02416" "00110" "2012-04-27 17:42:37" "" "" "SEQ" "DNA" "" "" "0000164438" "00163573" "1" "02416" "00110" "2012-04-18 16:05:35" "" "" "SEQ" "DNA" "" "" "0000164439" "00163574" "1" "02416" "00110" "2012-04-20 12:01:26" "" "" "SEQ;SSCA" "DNA" "" "" "0000164440" "00163575" "1" "02416" "00110" "2012-04-20 12:02:58" "00110" "2012-04-26 16:08:34" "SEQ;SSCA" "DNA" "" "" "0000164441" "00163576" "1" "02416" "00110" "2013-12-17 09:52:41" "" "" "SEQ" "DNA" "" "" "0000164442" "00163577" "1" "02416" "00110" "2013-12-19 11:44:22" "00110" "2014-01-06 11:21:52" "SEQ" "DNA" "" "" "0000164443" "00163578" "1" "02416" "00110" "2013-12-12 11:01:53" "" "" "SEQ" "DNA" "" "" "0000164444" "00163579" "1" "02416" "00110" "2012-04-13 11:54:15" "" "" "SEQ" "DNA" "" "" "0000164445" "00163580" "1" "02416" "00110" "2012-04-13 17:31:29" "00110" "2012-04-26 16:00:19" "SEQ" "DNA" "" "" "0000164446" "00163581" "1" "02416" "00110" "2013-06-26 14:26:35" "00110" "2014-11-27 08:58:30" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164447" "00163582" "1" "02416" "00110" "2014-11-26 11:34:02" "" "" "SEQ" "DNA" "" "" "0000164448" "00163583" "1" "02416" "00110" "2014-11-26 11:46:18" "" "" "SEQ" "DNA" "" "" "0000164449" "00163584" "1" "02416" "00110" "2014-11-26 11:53:56" "" "" "SEQ" "DNA" "" "" "0000164450" "00163585" "1" "02416" "00110" "2014-11-26 11:57:53" "" "" "SEQ" "DNA" "" "" "0000164451" "00163586" "1" "02416" "00110" "2014-11-26 10:22:42" "" "" "SEQ" "DNA" "" "" "0000164452" "00163587" "1" "02416" "00110" "2014-11-26 10:27:35" "" "" "SEQ" "DNA" "" "" "0000164453" "00163588" "1" "02416" "00110" "2014-11-26 10:30:55" "" "" "SEQ" "DNA" "" "" "0000164454" "00163589" "1" "02416" "00110" "2014-11-26 10:33:17" "" "" "SEQ" "DNA" "" "" "0000164455" "00163590" "1" "02416" "00110" "2014-11-26 10:35:12" "" "" "SEQ" "DNA" "" "" "0000164456" "00163591" "1" "02416" "00110" "2014-11-26 10:37:11" "" "" "SEQ" "DNA" "" "" "0000164457" "00163592" "1" "02416" "00110" "2013-06-26 14:50:11" "00110" "2014-11-27 08:58:41" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164458" "00163593" "1" "02416" "00110" "2012-04-13 17:23:49" "" "" "SEQ" "DNA" "" "" "0000164459" "00163594" "1" "02416" "00110" "2012-04-13 14:24:59" "00110" "2012-04-26 16:09:26" "SEQ" "DNA" "" "" "0000164461" "00163596" "1" "02416" "00110" "2012-04-13 13:38:32" "" "" "SEQ" "DNA" "" "" "0000164462" "00163597" "1" "02416" "00110" "2012-04-13 14:32:40" "" "" "SEQ" "DNA" "" "" "0000164463" "00163598" "1" "02416" "00110" "2012-04-13 14:34:16" "" "" "SEQ" "DNA" "" "" "0000164464" "00163599" "1" "02416" "00110" "2013-06-26 14:36:48" "00110" "2014-11-27 08:58:54" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164465" "00163600" "1" "02416" "00110" "2014-11-25 18:29:25" "00110" "2015-01-21 08:55:06" "arrayCGH;SEQ" "DNA" "" "" "0000164466" "00163601" "1" "02416" "00110" "2014-11-25 18:48:59" "00110" "2015-01-21 08:55:56" "arrayCGH;SEQ" "DNA" "" "" "0000164467" "00163602" "1" "02416" "00110" "2014-11-25 18:52:24" "00110" "2015-01-21 08:56:33" "arrayCGH;SEQ" "DNA" "" "" "0000164468" "00163603" "1" "02416" "00110" "2014-11-25 18:54:30" "00110" "2015-01-21 08:57:23" "arrayCGH;SEQ" "DNA" "" "" "0000164469" "00163604" "1" "02416" "00110" "2014-11-25 18:58:28" "00110" "2015-01-21 08:58:28" "arrayCGH;SEQ" "DNA" "" "" "0000164470" "00163605" "1" "02416" "00110" "2014-11-25 19:00:48" "00110" "2015-01-21 08:59:10" "arrayCGH;SEQ" "DNA" "" "" "0000164471" "00163606" "1" "02416" "00110" "2014-11-25 19:02:40" "00110" "2015-01-21 08:59:41" "arrayCGH;SEQ" "DNA" "" "" "0000164472" "00163607" "1" "02416" "00110" "2014-10-15 08:42:21" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164473" "00163608" "1" "02416" "00110" "2012-04-20 14:28:15" "" "" "SEQ" "DNA" "" "" "0000164474" "00163609" "1" "02416" "00110" "2013-02-08 15:49:58" "00110" "2014-02-06 10:22:53" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164475" "00163610" "1" "02416" "00110" "2014-11-26 12:14:55" "" "" "SEQ" "DNA" "" "" "0000164476" "00163611" "1" "02416" "00110" "2014-11-26 12:19:15" "" "" "SEQ" "DNA" "" "" "0000164477" "00163612" "1" "02416" "00110" "2014-11-26 12:24:03" "" "" "SEQ" "DNA" "" "" "0000164478" "00163613" "1" "02416" "00110" "2014-11-26 12:28:52" "" "" "SEQ" "DNA" "" "" "0000164479" "00163614" "1" "02416" "00110" "2014-11-26 12:32:28" "" "" "SEQ" "DNA" "" "" "0000164480" "00163615" "1" "02416" "00110" "2012-04-18 16:11:20" "" "" "SEQ" "DNA" "" "" "0000164481" "00163616" "1" "02416" "00110" "2012-04-12 16:51:27" "" "" "SEQ" "DNA" "" "" "0000164482" "00163617" "1" "02416" "00110" "2012-04-13 13:42:37" "" "" "SEQ" "DNA" "" "" "0000164483" "00163618" "1" "02416" "00110" "2012-04-13 13:44:00" "" "" "SEQ" "DNA" "" "" "0000164484" "00163619" "1" "02416" "00110" "2012-04-13 13:45:17" "" "" "SEQ" "DNA" "" "" "0000164485" "00163620" "1" "02416" "00110" "2012-04-13 13:49:46" "" "" "SEQ" "DNA" "" "" "0000164486" "00163621" "1" "02416" "00110" "2014-10-13 12:08:14" "00110" "2014-10-13 15:46:39" "SEQ" "DNA" "" "" "0000164487" "00163622" "1" "02416" "00110" "2014-10-13 12:12:24" "00110" "2014-10-13 15:52:12" "SEQ" "DNA" "" "" "0000164488" "00163623" "1" "02416" "00110" "2014-10-13 12:15:57" "00110" "2014-10-13 15:54:51" "SEQ" "DNA" "" "" "0000164489" "00163624" "1" "02416" "00110" "2014-10-13 12:19:38" "00110" "2014-10-13 15:56:34" "SEQ" "DNA" "" "" "0000164490" "00163625" "1" "02416" "00110" "2014-10-13 12:22:24" "00110" "2014-10-13 15:58:34" "SEQ" "DNA" "" "" "0000164491" "00163626" "1" "02416" "00110" "2013-06-26 14:44:55" "00110" "2014-11-27 08:59:12" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164492" "00163627" "1" "02393" "02393" "2018-02-26 08:57:16" "" "" "?" "DNA" "" "" "0000164493" "00163628" "1" "02421" "02421" "2013-07-09 10:50:24" "00110" "2013-07-22 11:28:38" "SEQ-NG-S" "DNA" "" "" "0000164494" "00163629" "1" "02416" "00110" "2015-01-21 14:58:58" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164495" "00163630" "1" "02416" "00110" "2013-12-17 09:48:10" "" "" "SEQ" "DNA" "" "" "0000164496" "00163631" "1" "02416" "00110" "2014-10-13 11:42:12" "00110" "2014-10-13 16:00:37" "SEQ" "DNA" "" "" "0000164497" "00163632" "1" "02416" "00110" "2014-10-13 11:48:38" "00110" "2014-10-13 16:03:42" "SEQ" "DNA" "" "" "0000164498" "00163633" "1" "02416" "00110" "2012-04-13 14:00:18" "" "" "SEQ" "DNA" "" "" "0000164499" "00163634" "1" "02416" "00110" "2012-04-20 14:22:29" "" "" "SEQ" "DNA" "" "" "0000164500" "00163635" "1" "02416" "00110" "2012-04-13 14:10:06" "" "" "SEQ" "DNA" "" "" "0000164501" "00163636" "1" "02416" "00110" "2013-02-11 10:56:33" "00110" "2014-02-06 10:22:53" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164502" "00163637" "1" "02416" "00110" "2013-02-22 09:32:04" "" "" "SEQ" "DNA" "" "" "0000164503" "00163638" "1" "02416" "00110" "2014-10-09 12:06:53" "00110" "2014-10-13 16:06:58" "SEQ" "DNA" "" "" "0000164504" "00163639" "1" "02416" "00110" "2014-10-10 17:06:51" "00110" "2014-10-13 16:11:11" "SEQ" "DNA" "" "" "0000164505" "00163640" "1" "02416" "00110" "2014-10-10 17:11:31" "00110" "2014-10-13 16:13:13" "SEQ" "DNA" "" "" "0000164506" "00163641" "1" "02416" "00110" "2014-10-10 17:14:58" "00110" "2014-10-13 16:15:05" "SEQ" "DNA" "" "" "0000164507" "00163642" "1" "02416" "00110" "2012-04-13 15:26:06" "" "" "SEQ" "DNA" "" "" "0000164508" "00163643" "1" "02416" "00110" "2012-04-18 12:35:03" "00110" "2012-04-20 11:53:13" "SEQ" "DNA" "" "" "0000164509" "00163644" "1" "02416" "00110" "2012-04-18 12:36:39" "" "" "SEQ" "DNA" "" "" "0000164510" "00163645" "1" "02416" "00110" "2013-02-08 09:59:01" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164511" "00163646" "1" "02416" "00110" "2017-08-14 16:02:10" "00110" "2017-12-06 10:04:40" "SEQ;SEQ-NG-S" "DNA" "" "" "0000164512" "00163647" "1" "02416" "00110" "2012-04-13 15:19:23" "" "" "SEQ" "DNA" "" "" "0000164513" "00163648" "1" "02416" "00110" "2012-04-23 16:41:54" "00110" "2012-04-23 16:42:16" "SEQ" "DNA" "" "" "0000171676" "00170803" "1" "02416" "02416" "2017-08-16 11:39:02" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000292820" "00291652" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292821" "00291653" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292822" "00291654" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292823" "00291655" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292824" "00291656" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296990" "00295816" "1" "03607" "03607" "2020-03-27 08:42:46" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000305698" "00304569" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328269" "00327054" "1" "03611" "03611" "2021-01-20 03:09:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000328275" "00327060" "1" "03611" "03611" "2021-01-20 03:23:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000328277" "00327062" "1" "03611" "03611" "2021-01-20 03:27:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000328286" "00327072" "1" "03611" "03611" "2021-01-20 03:56:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000328297" "00327083" "1" "03611" "03611" "2021-01-20 04:15:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000328316" "00327103" "1" "03611" "03611" "2021-01-20 07:24:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000328326" "00327114" "1" "03611" "03611" "2021-01-20 07:41:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000328327" "00327115" "1" "03611" "03611" "2021-01-20 07:42:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000328328" "00327116" "1" "03611" "03611" "2021-01-20 07:44:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000328329" "00327117" "1" "03611" "03611" "2021-01-20 07:45:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000328331" "00327119" "1" "03611" "03611" "2021-01-20 07:50:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000328332" "00327120" "1" "03611" "03611" "2021-01-20 07:52:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000328333" "00327121" "1" "03611" "03611" "2021-01-20 07:54:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000328334" "00327122" "1" "03611" "03611" "2021-01-20 07:55:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000328340" "00327128" "1" "03611" "03611" "2021-01-20 08:03:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000328361" "00327149" "1" "03611" "03611" "2021-01-20 09:06:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000328592" "00327380" "1" "03611" "03611" "2021-01-20 09:07:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000328598" "00327386" "1" "03611" "03611" "2021-01-20 09:17:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000328599" "00327387" "1" "03611" "03611" "2021-01-20 09:18:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000332522" "00331303" "1" "00000" "00006" "2021-02-11 11:56:16" "" "" "SEQ" "DNA" "" "" "0000332523" "00331304" "1" "00000" "00006" "2021-02-11 11:56:16" "" "" "SEQ" "DNA" "" "" "0000332524" "00331305" "1" "00000" "00006" "2021-02-11 11:56:16" "" "" "SEQ" "DNA" "" "" "0000332838" "00331619" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000373749" "00372516" "1" "00006" "00006" "2021-05-08 11:07:48" "" "" "SEQ" "DNA" "" "" "0000377536" "00376340" "1" "02551" "02551" "2021-06-21 13:42:01" "" "" "SEQ" "DNA" "" "" "0000381914" "00380701" "1" "04006" "04006" "2021-08-19 17:46:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000429733" "00428321" "1" "04147" "04147" "2022-12-31 13:54:44" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000429734" "00428322" "1" "04147" "04147" "2022-12-31 14:14:35" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000429735" "00428323" "1" "04147" "04147" "2022-12-31 14:35:17" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000429737" "00428324" "1" "04147" "04147" "2022-12-31 20:36:03" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "Otogenetics Deafness Panel" "0000429738" "00428326" "1" "04147" "04147" "2022-12-31 22:55:15" "" "" "SEQ-NG-IT" "DNA" "Blood" "WES" "0000429784" "00428372" "1" "04147" "04147" "2023-01-01 22:39:58" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000429785" "00428373" "1" "04147" "04147" "2023-01-01 23:06:03" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000429790" "00428378" "1" "04147" "04147" "2023-01-02 14:31:53" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000429791" "00428379" "1" "04147" "04147" "2023-01-02 14:46:47" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000442595" "00441110" "1" "00006" "00006" "2023-11-06 09:06:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442602" "00441117" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442603" "00441118" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442813" "00441327" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442814" "00441328" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442815" "00441329" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442816" "00441330" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442817" "00441331" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442953" "00441467" "1" "00006" "00006" "2023-11-07 20:16:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442956" "00441470" "1" "00006" "00006" "2023-11-07 21:45:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442957" "00441471" "1" "00006" "00006" "2023-11-07 21:53:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442958" "00441472" "1" "00006" "00006" "2023-11-07 21:58:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443110" "00441624" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443111" "00441625" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443112" "00441626" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443113" "00441627" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443114" "00441628" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448790" "00447213" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449839" "00448264" "1" "04656" "04656" "2024-02-27 06:35:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000467188" "00465539" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467189" "00465540" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467190" "00465541" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467191" "00465542" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467192" "00465543" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467193" "00465544" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467194" "00465545" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467195" "00465546" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467196" "00465547" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467197" "00465548" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467198" "00465549" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467199" "00465550" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467200" "00465551" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467201" "00465552" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467202" "00465553" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467203" "00465554" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467204" "00465555" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467205" "00465556" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467206" "00465557" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467207" "00465558" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467208" "00465559" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467209" "00465560" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 159 "{{screeningid}}" "{{geneid}}" "0000002902" "MYO15A" "0000002908" "MYO15A" "0000059102" "MYO15A" "0000059130" "MYO15A" "0000059131" "MYO15A" "0000059132" "MYO15A" "0000059133" "MYO15A" "0000059135" "CDH23" "0000059135" "MYO15A" "0000059136" "MYO15A" "0000060281" "MYO15A" "0000060283" "MYO15A" "0000081132" "MYO15A" "0000133127" "PTPRQ" "0000164081" "TECTA" "0000164376" "MYO15A" "0000164377" "MYO15A" "0000164378" "MYO15A" "0000164379" "MYO15A" "0000164380" "MYO15A" "0000164381" "MYO15A" "0000164382" "MYO15A" "0000164383" "MYO15A" "0000164384" "MYO15A" "0000164385" "MYO15A" "0000164386" "MYO15A" "0000164387" "MYO15A" "0000164388" "MYO15A" "0000164389" "MYO15A" "0000164390" "MYO15A" "0000164391" "MYO15A" "0000164392" "MYO15A" "0000164393" "MYO15A" "0000164394" "MYO15A" "0000164395" "MYO15A" "0000164396" "MYO15A" "0000164397" "MYO15A" "0000164398" "MYO15A" "0000164399" "MYO15A" "0000164400" "MYO15A" "0000164401" "MYO15A" "0000164402" "MYO15A" "0000164403" "MYO15A" "0000164404" "MYO15A" "0000164405" "MYO15A" "0000164406" "MYO15A" "0000164407" "MYO15A" "0000164408" "MYO15A" "0000164409" "MYO15A" "0000164410" "MYO15A" "0000164411" "MYO15A" "0000164412" "MYO15A" "0000164413" "MYO15A" "0000164414" "MYO15A" "0000164415" "MYO15A" "0000164416" "MYO15A" "0000164417" "MYO15A" "0000164418" "MYO15A" "0000164419" "MYO15A" "0000164420" "MYO15A" "0000164421" "MYO15A" "0000164422" "MYO15A" "0000164423" "MYO15A" "0000164424" "MYO15A" "0000164425" "MYO15A" "0000164426" "MYO15A" "0000164427" "MYO15A" "0000164428" "MYO15A" "0000164430" "MYO15A" "0000164431" "MYO15A" "0000164432" "MYO15A" "0000164433" "MYO15A" "0000164434" "MYO15A" "0000164435" "MYO15A" "0000164436" "MYO15A" "0000164437" "MYO15A" "0000164438" "MYO15A" "0000164439" "MYO15A" "0000164440" "MYO15A" "0000164441" "MYO15A" "0000164442" "MYO15A" "0000164443" "MYO15A" "0000164444" "MYO15A" "0000164445" "MYO15A" "0000164446" "MYO15A" "0000164447" "MYO15A" "0000164448" "MYO15A" "0000164449" "MYO15A" "0000164450" "MYO15A" "0000164451" "MYO15A" "0000164452" "MYO15A" "0000164453" "MYO15A" "0000164454" "MYO15A" "0000164455" "MYO15A" "0000164456" "MYO15A" "0000164457" "MYO15A" "0000164458" "MYO15A" "0000164459" "MYO15A" "0000164461" "MYO15A" "0000164462" "MYO15A" "0000164463" "MYO15A" "0000164464" "MYO15A" "0000164465" "MYO15A" "0000164466" "MYO15A" "0000164467" "MYO15A" "0000164468" "MYO15A" "0000164469" "MYO15A" "0000164470" "MYO15A" "0000164471" "MYO15A" "0000164472" "MYO15A" "0000164473" "MYO15A" "0000164474" "MYO15A" "0000164475" "MYO15A" "0000164476" "MYO15A" "0000164477" "MYO15A" "0000164478" "MYO15A" "0000164479" "MYO15A" "0000164480" "MYO15A" "0000164481" "MYO15A" "0000164482" "MYO15A" "0000164483" "MYO15A" "0000164484" "MYO15A" "0000164485" "MYO15A" "0000164486" "MYO15A" "0000164487" "MYO15A" "0000164488" "MYO15A" "0000164489" "MYO15A" "0000164490" "MYO15A" "0000164491" "MYO15A" "0000164492" "MYO15A" "0000164493" "MYO15A" "0000164494" "MYO15A" "0000164495" "MYO15A" "0000164496" "MYO15A" "0000164497" "MYO15A" "0000164498" "MYO15A" "0000164499" "MYO15A" "0000164500" "MYO15A" "0000164501" "MYO15A" "0000164502" "MYO15A" "0000164503" "MYO15A" "0000164504" "MYO15A" "0000164505" "MYO15A" "0000164506" "MYO15A" "0000164507" "MYO15A" "0000164508" "MYO15A" "0000164509" "MYO15A" "0000164510" "MYO15A" "0000164511" "MYO15A" "0000164512" "MYO15A" "0000164513" "MYO15A" "0000296990" "MYO15A" "0000332522" "MYO15A" "0000332523" "MYO15A" "0000332524" "MYO15A" "0000332838" "PCDH15" "0000332838" "TULP1" "0000373749" "MYO15A" "0000381914" "MYO15A" ## 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 = 655 "{{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}}" "0000013647" "3" "30" "17" "18079075" "18079075" "subst" "0" "00037" "MYO15A_000125" "g.18079075C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.18175761C>T" "" "likely benign" "" "0000021269" "1" "70" "17" "18022739" "18022739" "subst" "4.14638E-6" "00130" "MYO15A_000126" "g.18022739G>T" "" "{PMID:Neveling 2013:24123792}" "" "" "-" "Unknown" "?" "" "0" "" "" "g.18119425G>T" "" "likely pathogenic" "" "0000021270" "2" "70" "17" "18023251" "18023251" "del" "0" "00130" "MYO15A_000090" "g.18023251del" "" "{PMID:Neveling 2013:24123792}" "" "" "-" "Unknown" "?" "" "0" "" "" "g.18119937del" "" "likely pathogenic" "" "0000021279" "1" "70" "17" "18051884" "18051884" "subst" "2.00862E-5" "00130" "MYO15A_000127" "g.18051884T>A" "" "{PMID:Neveling 2013:24123792}" "" "" "3 (possible) mutations in one gene, segregation needed" "Unknown" "?" "" "0" "" "" "g.18148570T>A" "" "likely pathogenic" "" "0000021280" "2" "70" "17" "18029748" "18029748" "subst" "5.6962E-5" "00130" "MYO15A_000128" "g.18029748C>T" "" "{PMID:Neveling 2013:24123792}" "" "" "3 (possible) mutations in one gene, segregation needed" "Unknown" "?" "" "0" "" "" "g.18126434C>T" "" "likely pathogenic" "" "0000021281" "2" "70" "17" "18043906" "18043906" "subst" "0.00180046" "00130" "MYO15A_000129" "g.18043906C>T" "" "{PMID:Neveling 2013:24123792}" "" "" "" "Unknown" "?" "" "0" "" "" "g.18140592C>T" "" "likely pathogenic" "" "0000089787" "3" "90" "17" "18052889" "18052889" "subst" "0" "01542" "MYO15A_000098" "g.18052889G>T" "" "" "" "" "0 in 700 Arab controls" "Germline" "yes" "" "0" "" "" "g.18149575G>T" "" "pathogenic" "" "0000089801" "3" "90" "17" "18052889" "18052889" "subst" "0" "01542" "MYO15A_000098" "g.18052889G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.18149575G>T" "" "pathogenic" "" "0000089802" "3" "90" "17" "18058539" "18058539" "subst" "8.1277E-6" "01542" "MYO15A_000130" "g.18058539G>A" "" "" "" "p.T2780T" "variant affects splicing, leading to skipping of exon 46 (116bp), leading to an early stop codon at amino acid 2803 (out of 3531 in the WT protein); 0/100 controls" "Germline" "yes" "" "0" "" "" "g.18155225G>A" "" "pathogenic" "" "0000089803" "3" "90" "17" "18054799" "18058246" "del" "0" "01542" "MYO15A_000131" "g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC" "2/155 patients" "" "" "" "not in 215 controls" "Germline" "yes" "" "0" "" "" "g.18151485_18154932delinsCTCCCCGGAACGGCTGCTGGTAC" "" "pathogenic" "" "0000089804" "1" "90" "17" "18052889" "18052889" "subst" "0" "01542" "MYO15A_000098" "g.18052889G>T" "4/186 controls" "" "" "" "" "Germline" "" "" "0" "" "" "g.18149575G>T" "" "pathogenic" "" "0000089805" "3" "90" "17" "18049252" "18049252" "subst" "8.1365E-6" "01542" "MYO15A_000070" "g.18049252G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.18145938G>A" "" "pathogenic" "" "0000089899" "3" "70" "17" "18047827" "18047827" "subst" "0" "01551" "MYO15A_000132" "g.18047827T>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18144513T>A" "" "likely pathogenic" "" "0000089930" "0" "50" "17" "18047857" "18047857" "subst" "0" "01551" "MYO15A_000138" "g.18047857C>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18144543C>G" "" "VUS" "" "0000089931" "0" "50" "17" "18022485" "18022485" "subst" "0" "01551" "MYO15A_000144" "g.18022485C>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18119171C>G" "" "VUS" "" "0000089932" "0" "50" "17" "18023247" "18023247" "del" "0" "01551" "MYO15A_000142" "g.18023247del" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18119933del" "" "VUS" "" "0000089933" "0" "50" "17" "18052893" "18052893" "subst" "5.28056E-5" "01551" "MYO15A_000139" "g.18052893C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18149579C>T" "" "VUS" "" "0000089934" "0" "50" "17" "18023324" "18023324" "subst" "0" "01551" "MYO15A_000143" "g.18023324G>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18120010G>T" "" "VUS" "" "0000089935" "0" "50" "17" "18024308" "18024308" "subst" "0.00137223" "01551" "MYO15A_000140" "g.18024308C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18120994C>T" "" "VUS" "" "0000089936" "0" "50" "17" "18025499" "18025499" "subst" "9.35423E-5" "01551" "MYO15A_000141" "g.18025499C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18122185C>T" "" "VUS" "" "0000089937" "0" "50" "17" "18039039" "18039039" "subst" "0.000784457" "01551" "MYO15A_000135" "g.18039039G>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18135725G>T" "" "VUS" "" "0000089939" "0" "30" "17" "18051413" "18051413" "subst" "0.000138293" "01551" "MYO15A_000133" "g.18051413C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18148099C>T" "" "likely benign" "" "0000089940" "0" "90" "17" "18055266" "18055266" "subst" "1.92411E-5" "01551" "MYO15A_000134" "g.18055266G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18151952G>A" "" "pathogenic" "" "0000089941" "0" "50" "17" "18041561" "18041561" "subst" "0" "01551" "MYO15A_000136" "g.18041561G>C" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18138247G>C" "" "VUS" "" "0000089942" "0" "50" "17" "18047111" "18047111" "subst" "2.66057E-5" "01551" "MYO15A_000137" "g.18047111G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18143797G>A" "" "VUS" "" "0000089943" "0" "50" "17" "18047111" "18047111" "subst" "2.66057E-5" "01551" "MYO15A_000137" "g.18047111G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.18143797G>A" "" "VUS" "" "0000091200" "3" "90" "17" "18059516" "18059516" "subst" "4.06421E-6" "01542" "MYO15A_000073" "g.18059516G>A" "2/217 cases (hom)" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18156202G>A" "" "pathogenic" "" "0000091202" "21" "90" "17" "18022487" "18022488" "del" "4.21092E-6" "01542" "MYO15A_000029" "g.18022487_18022488del" "1/120 cases (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "373delCG" "3/240 hearing controls heterozygous" "Germline" "yes" "" "0" "" "" "g.18119173_18119174del" "" "pathogenic" "" "0000091203" "11" "90" "17" "18058028" "18058028" "subst" "0.000195284" "01542" "MYO15A_000028" "g.18058028G>A" "3/144 cases (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "" "not in 158 hearing controls" "Germline" "yes" "" "0" "" "" "g.18154714G>A" "" "pathogenic" "" "0000091301" "1" "90" "17" "18059516" "18059516" "subst" "4.06421E-6" "01542" "MYO15A_000073" "g.18059516G>A" "2/171 controls (het)" "{PMID:Brownstein 2014:24105371}, {DOI:Brownstein 2014:10.1038/ejhg.2013.232}" "" "" "" "Germline" "-" "" "0" "" "" "g.18156202G>A" "" "pathogenic" "" "0000091303" "1" "90" "17" "18022487" "18022488" "del" "4.21092E-6" "00006" "MYO15A_000029" "g.18022487_18022488del" "3/240 controls (het)" "{PMID:Brownstein 2011:21917145}, {DOI:Brownstein 2011:10.1186/gb-2011-12-9-r89}" "" "373delCG" "" "Germline" "" "" "0" "" "" "g.18119173_18119174del" "" "pathogenic" "" "0000129000" "1" "70" "17" "18022739" "18022739" "subst" "4.14638E-6" "01740" "MYO15A_000126" "g.18022739G>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.18119425G>T" "" "likely pathogenic" "" "0000129001" "2" "70" "17" "18023251" "18023251" "del" "0" "01740" "MYO15A_000090" "g.18023251del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.18119937del" "" "likely pathogenic" "" "0000129006" "1" "70" "17" "18051884" "18051884" "subst" "2.00862E-5" "01740" "MYO15A_000127" "g.18051884T>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.18148570T>A" "" "likely pathogenic" "" "0000129007" "2" "70" "17" "18029748" "18029748" "subst" "5.6962E-5" "01740" "MYO15A_000128" "g.18029748C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.18126434C>T" "" "likely pathogenic" "" "0000129008" "2" "70" "17" "18043906" "18043906" "subst" "0.00180046" "01740" "MYO15A_000129" "g.18043906C>T" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.18140592C>T" "" "likely pathogenic" "" "0000129012" "1" "70" "17" "18052097" "18052097" "subst" "3.13014E-5" "01740" "MYO15A_000146" "g.18052097G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.18148783G>A" "" "likely pathogenic" "" "0000129013" "2" "70" "17" "18055266" "18055266" "subst" "1.92411E-5" "01740" "MYO15A_000134" "g.18055266G>A" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.18151952G>A" "" "likely pathogenic" "" "0000129031" "1" "70" "17" "18025425" "18025425" "dup" "0" "01740" "MYO15A_000145" "g.18025425dup" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.18122111dup" "" "likely pathogenic" "" "0000129032" "2" "70" "17" "18025425" "18025425" "dup" "0" "01740" "MYO15A_000145" "g.18025425dup" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.18122111dup" "" "likely pathogenic" "" "0000130218" "3" "90" "17" "18058003" "18058003" "subst" "0" "01758" "MYO15A_000147" "g.18058003G>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.18154689G>C" "" "pathogenic" "ACMG" "0000247972" "0" "10" "17" "18024013" "18024013" "subst" "0.460178" "02325" "MYO15A_000156" "g.18024013A>G" "" "" "" "MYO15A(NM_016239.3):c.1899A>G (p.P633=), MYO15A(NM_016239.4):c.1899A>G (p.P633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120699A>G" "" "benign" "" "0000248027" "0" "10" "17" "18046058" "18046058" "subst" "0.716755" "02325" "MYO15A_000177" "g.18046058A>C" "" "" "" "MYO15A(NM_016239.3):c.5826-12A>C, MYO15A(NM_016239.4):c.5826-12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18142744A>C" "" "benign" "" "0000248951" "0" "10" "17" "18057167" "18057167" "subst" "0.337234" "02325" "MYO15A_000191" "g.18057167A>T" "" "" "" "MYO15A(NM_016239.4):c.8045A>T (p.Y2682F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18153853A>T" "" "benign" "" "0000253233" "0" "10" "17" "18024013" "18024013" "subst" "0.460178" "01943" "MYO15A_000156" "g.18024013A>G" "" "" "" "MYO15A(NM_016239.3):c.1899A>G (p.P633=), MYO15A(NM_016239.4):c.1899A>G (p.P633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120699A>G" "" "benign" "" "0000253288" "0" "10" "17" "18046058" "18046058" "subst" "0.716755" "01943" "MYO15A_000177" "g.18046058A>C" "" "" "" "MYO15A(NM_016239.3):c.5826-12A>C, MYO15A(NM_016239.4):c.5826-12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18142744A>C" "" "benign" "" "0000254799" "0" "30" "17" "18067119" "18067119" "subst" "0.00243283" "01943" "MYO15A_000203" "g.18067119A>G" "" "" "" "MYO15A(NM_016239.3):c.9754A>G (p.N3252D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18163805A>G" "" "likely benign" "" "0000256142" "0" "50" "17" "18044129" "18044129" "subst" "4.06171E-6" "01943" "MYO15A_000175" "g.18044129A>C" "" "" "" "MYO15A(NM_016239.3):c.5389A>C (p.K1797Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18140815A>C" "" "VUS" "" "0000256321" "0" "50" "17" "18023501" "18023501" "subst" "0.00123916" "01943" "MYO15A_000153" "g.18023501A>G" "" "" "" "MYO15A(NM_016239.3):c.1387A>G (p.M463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120187A>G" "" "VUS" "" "0000296213" "0" "10" "17" "18077175" "18077175" "subst" "0.733356" "02325" "MYO15A_000204" "g.18077175T>C" "" "" "" "MYO15A(NM_016239.4):c.10431T>C (p.Y3477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18173861T>C" "" "benign" "" "0000296214" "0" "10" "17" "18024266" "18024266" "subst" "0.447611" "02325" "MYO15A_000158" "g.18024266T>G" "" "" "" "MYO15A(NM_016239.3):c.2152T>G (p.W718G), MYO15A(NM_016239.4):c.2152T>G (p.W718G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120952T>G" "" "benign" "" "0000296215" "0" "10" "17" "18041507" "18041507" "subst" "0.531814" "02325" "MYO15A_000171" "g.18041507C>T" "" "" "" "MYO15A(NM_016239.4):c.4954C>T (p.L1652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18138193C>T" "" "benign" "" "0000296216" "0" "10" "17" "18043766" "18043766" "subst" "0" "02325" "MYO15A_000174" "g.18043766C>G" "" "" "" "MYO15A(NM_016239.4):c.5212-65C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18140452C>G" "" "benign" "" "0000296217" "0" "10" "17" "18046898" "18046898" "subst" "0.7313" "02325" "MYO15A_000182" "g.18046898T>C" "" "" "" "MYO15A(NM_016239.3):c.5929T>C (p.C1977R), MYO15A(NM_016239.4):c.5929T>C (p.C1977R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18143584T>C" "" "benign" "" "0000296218" "0" "10" "17" "18052867" "18052867" "subst" "0.986384" "02325" "MYO15A_000187" "g.18052867T>C" "" "" "" "MYO15A(NM_016239.4):c.7185T>C (p.F2395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18149553T>C" "" "benign" "" "0000296219" "0" "10" "17" "18055229" "18055229" "subst" "0.509169" "02325" "MYO15A_000189" "g.18055229G>A" "" "" "" "MYO15A(NM_016239.4):c.7857G>A (p.G2619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18151915G>A" "" "benign" "" "0000296220" "0" "10" "17" "18057215" "18057215" "subst" "0.187504" "02325" "MYO15A_000192" "g.18057215C>G" "" "" "" "MYO15A(NM_016239.4):c.8088+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18153901C>G" "" "benign" "" "0000296221" "0" "10" "17" "18058521" "18058521" "subst" "0.336014" "02325" "MYO15A_000196" "g.18058521C>T" "" "" "" "MYO15A(NM_016239.4):c.8322C>T (p.S2774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18155207C>T" "" "benign" "" "0000296222" "0" "10" "17" "18059494" "18059494" "subst" "0.335008" "02325" "MYO15A_000198" "g.18059494C>T" "" "" "" "MYO15A(NM_016239.4):c.8460-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18156180C>T" "" "benign" "" "0000296223" "0" "10" "17" "18064730" "18064730" "subst" "0.169595" "02325" "MYO15A_000200" "g.18064730C>T" "" "" "" "MYO15A(NM_016239.4):c.9486C>T (p.D3162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18161416C>T" "" "benign" "" "0000296224" "0" "10" "17" "18065888" "18065888" "subst" "0.168475" "02325" "MYO15A_000201" "g.18065888T>C" "" "" "" "MYO15A(NM_016239.4):c.9518-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162574T>C" "" "benign" "" "0000302634" "0" "30" "17" "18023140" "18023140" "subst" "2.44202E-5" "01943" "MYO15A_000149" "g.18023140C>T" "" "" "" "MYO15A(NM_016239.3):c.1026C>T (p.Y342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18119826C>T" "" "likely benign" "" "0000302635" "0" "30" "17" "18023225" "18023225" "subst" "0.00136522" "01943" "MYO15A_000150" "g.18023225C>A" "" "" "" "MYO15A(NM_016239.3):c.1111C>A (p.P371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18119911C>A" "" "likely benign" "" "0000302636" "0" "90" "17" "18023299" "18023299" "del" "0" "01943" "MYO15A_000151" "g.18023299del" "" "" "" "MYO15A(NM_016239.3):c.1185delC (p.E396Rfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18119985del" "" "pathogenic" "" "0000302637" "0" "30" "17" "18023499" "18023499" "subst" "0.00357175" "01943" "MYO15A_000152" "g.18023499G>A" "" "" "" "MYO15A(NM_016239.3):c.1385G>A (p.G462D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120185G>A" "" "likely benign" "" "0000302638" "0" "90" "17" "18023660" "18023660" "subst" "0" "01943" "MYO15A_000154" "g.18023660G>T" "" "" "" "MYO15A(NM_016239.3):c.1546G>T (p.E516*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120346G>T" "" "pathogenic" "" "0000302639" "0" "50" "17" "18023727" "18023727" "subst" "9.80864E-5" "01943" "MYO15A_000155" "g.18023727G>A" "" "" "" "MYO15A(NM_016239.3):c.1613G>A (p.R538H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120413G>A" "" "VUS" "" "0000302640" "0" "30" "17" "18024142" "18024142" "subst" "0.0110701" "01943" "MYO15A_000157" "g.18024142C>A" "" "" "" "MYO15A(NM_016239.3):c.2028C>A (p.P676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120828C>A" "" "likely benign" "" "0000302641" "0" "10" "17" "18024266" "18024266" "subst" "0.447611" "01943" "MYO15A_000158" "g.18024266T>G" "" "" "" "MYO15A(NM_016239.3):c.2152T>G (p.W718G), MYO15A(NM_016239.4):c.2152T>G (p.W718G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120952T>G" "" "benign" "" "0000302642" "0" "50" "17" "18024308" "18024308" "subst" "0.00137223" "01943" "MYO15A_000140" "g.18024308C>T" "" "" "" "MYO15A(NM_016239.3):c.2194C>T (p.P732S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120994C>T" "" "VUS" "" "0000302643" "0" "30" "17" "18024733" "18024733" "subst" "1.5392E-5" "01943" "MYO15A_000159" "g.18024733G>T" "" "" "" "MYO15A(NM_016239.3):c.2619G>T (p.R873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18121419G>T" "" "likely benign" "" "0000302644" "0" "30" "17" "18024739" "18024739" "subst" "0" "01943" "MYO15A_000160" "g.18024739C>T" "" "" "" "MYO15A(NM_016239.3):c.2625C>T (p.L875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18121425C>T" "" "likely benign" "" "0000302645" "0" "50" "17" "18025119" "18025119" "subst" "0" "01943" "MYO15A_000161" "g.18025119C>A" "" "" "" "MYO15A(NM_016239.3):c.3005C>A (p.T1002N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18121805C>A" "" "VUS" "" "0000302646" "0" "90" "17" "18025499" "18025499" "subst" "9.35423E-5" "01943" "MYO15A_000141" "g.18025499C>T" "" "" "" "MYO15A(NM_016239.3):c.3385C>T (p.R1129*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18122185C>T" "" "pathogenic" "" "0000302647" "0" "10" "17" "18025744" "18025744" "subst" "0.459486" "01943" "MYO15A_000163" "g.18025744C>G" "" "" "" "MYO15A(NM_016239.3):c.3609+21C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18122430C>G" "" "benign" "" "0000302648" "0" "30" "17" "18027811" "18027811" "subst" "0" "01943" "MYO15A_000164" "g.18027811C>A" "" "" "" "MYO15A(NM_016239.3):c.3624C>A (p.R1208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18124497C>A" "" "likely benign" "" "0000302649" "0" "30" "17" "18027846" "18027846" "subst" "0.000502418" "01943" "MYO15A_000165" "g.18027846G>A" "" "" "" "MYO15A(NM_016239.3):c.3659G>A (p.G1220E), MYO15A(NM_016239.4):c.3659G>A (p.(Gly1220Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18124532G>A" "" "likely benign" "" "0000302650" "0" "30" "17" "18030426" "18030426" "subst" "0.00175104" "01943" "MYO15A_000166" "g.18030426C>T" "" "" "" "MYO15A(NM_016239.3):c.3979C>T (p.L1327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18127112C>T" "" "likely benign" "" "0000302652" "0" "50" "17" "18039887" "18039887" "subst" "2.03396E-5" "01943" "MYO15A_000168" "g.18039887G>A" "" "" "" "MYO15A(NM_016239.3):c.4666G>A (p.A1556T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18136573G>A" "" "VUS" "" "0000302653" "0" "30" "17" "18039940" "18039940" "subst" "0.00143472" "01943" "MYO15A_000169" "g.18039940G>A" "" "" "" "MYO15A(NM_016239.3):c.4719G>A (p.A1573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18136626G>A" "" "likely benign" "" "0000302654" "0" "30" "17" "18040009" "18040009" "subst" "0.00239046" "01943" "MYO15A_000170" "g.18040009G>A" "" "" "" "MYO15A(NM_016239.3):c.4779+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18136695G>A" "" "likely benign" "" "0000302655" "0" "50" "17" "18041529" "18041529" "subst" "0.000362384" "01943" "MYO15A_000172" "g.18041529G>A" "" "" "" "MYO15A(NM_016239.3):c.4976G>A (p.R1659Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18138215G>A" "" "VUS" "" "0000302656" "0" "30" "17" "18042172" "18042172" "subst" "0.000244722" "01943" "MYO15A_000173" "g.18042172C>T" "" "" "" "MYO15A(NM_016239.3):c.5055C>T (p.A1685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18138858C>T" "" "likely benign" "" "0000302657" "0" "50" "17" "18045568" "18045568" "subst" "0" "01943" "MYO15A_000176" "g.18045568G>C" "" "" "" "MYO15A(NM_016239.3):c.5825G>C (p.R1942T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18142254G>C" "" "VUS" "" "0000302658" "0" "50" "17" "18046096" "18046096" "subst" "0" "01943" "MYO15A_000178" "g.18046096G>C" "" "" "" "MYO15A(NM_016239.3):c.5852G>C (p.S1951T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18142782G>C" "" "VUS" "" "0000302659" "0" "50" "17" "18046110" "18046110" "subst" "0.000278191" "01943" "MYO15A_000179" "g.18046110C>T" "" "" "" "MYO15A(NM_016239.3):c.5866C>T (p.R1956W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18142796C>T" "" "VUS" "" "0000302660" "0" "30" "17" "18046138" "18046138" "subst" "0.00445915" "01943" "MYO15A_000180" "g.18046138G>A" "" "" "" "MYO15A(NM_016239.3):c.5894G>A (p.R1965H), MYO15A(NM_016239.4):c.5894G>A (p.(Arg1965His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18142824G>A" "" "likely benign" "" "0000302661" "0" "90" "17" "18046894" "18046894" "subst" "0.0020308" "01943" "MYO15A_000181" "g.18046894G>A" "" "" "" "MYO15A(NM_016239.3):c.5925G>A (p.W1975*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18143580G>A" "" "pathogenic" "" "0000302662" "0" "10" "17" "18046898" "18046898" "subst" "0.7313" "01943" "MYO15A_000182" "g.18046898T>C" "" "" "" "MYO15A(NM_016239.3):c.5929T>C (p.C1977R), MYO15A(NM_016239.4):c.5929T>C (p.C1977R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18143584T>C" "" "benign" "" "0000302663" "0" "30" "17" "18047912" "18047912" "subst" "8.19397E-6" "01943" "MYO15A_000183" "g.18047912G>C" "" "" "" "MYO15A(NM_016239.3):c.6273+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18144598G>C" "" "likely benign" "" "0000302664" "0" "50" "17" "18051444" "18051444" "subst" "0" "01943" "MYO15A_000184" "g.18051444G>A" "" "" "" "MYO15A(NM_016239.3):c.6611G>A (p.R2204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18148130G>A" "" "VUS" "" "0000302665" "0" "30" "17" "18051447" "18051447" "subst" "0.00441715" "01943" "MYO15A_000185" "g.18051447C>T" "" "" "" "MYO15A(NM_016239.3):c.6614C>T (p.T2205I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18148133C>T" "" "likely benign" "" "0000302666" "0" "50" "17" "18051861" "18051861" "subst" "0.00340705" "01943" "MYO15A_000186" "g.18051861C>T" "" "" "" "MYO15A(NM_016239.3):c.6743C>T (p.A2248V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18148547C>T" "" "VUS" "" "0000302667" "0" "30" "17" "18054827" "18054827" "subst" "2.44105E-5" "01943" "MYO15A_000188" "g.18054827G>A" "" "" "" "MYO15A(NM_016239.3):c.7773G>A (p.R2591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18151513G>A" "" "likely benign" "" "0000302668" "0" "30" "17" "18055440" "18055440" "subst" "0.00121984" "01943" "MYO15A_000190" "g.18055440C>T" "" "" "" "MYO15A(NM_016239.3):c.7908C>T (p.A2636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18152126C>T" "" "likely benign" "" "0000302669" "0" "70" "17" "18057446" "18057446" "subst" "0.000264054" "01943" "MYO15A_000193" "g.18057446T>C" "" "" "" "MYO15A(NM_016239.3):c.8090T>C (p.V2697A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18154132T>C" "" "likely pathogenic" "" "0000302670" "0" "50" "17" "18058015" "18058015" "subst" "8.54193E-5" "01943" "MYO15A_000194" "g.18058015G>A" "" "" "" "MYO15A(NM_016239.3):c.8170G>A (p.E2724K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18154701G>A" "" "VUS" "" "0000302671" "0" "30" "17" "18058468" "18058468" "subst" "0.0022905" "01943" "MYO15A_000195" "g.18058468G>A" "" "" "" "MYO15A(NM_016239.3):c.8269G>A (p.V2757M), MYO15A(NM_016239.4):c.8269G>A (p.(Val2757Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18155154G>A" "" "likely benign" "" "0000302672" "0" "70" "17" "18058544" "18058544" "subst" "1.21899E-5" "01943" "MYO15A_000197" "g.18058544G>A" "" "" "" "MYO15A(NM_016239.3):c.8340+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18155230G>A" "" "likely pathogenic" "" "0000302673" "0" "30" "17" "18061058" "18061058" "subst" "0.00189178" "01943" "MYO15A_000199" "g.18061058C>T" "" "" "" "MYO15A(NM_016239.3):c.8811C>T (p.H2937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18157744C>T" "" "likely benign" "" "0000302674" "0" "30" "17" "18023029" "18023029" "subst" "0.00124159" "01943" "MYO15A_000148" "g.18023029C>T" "" "" "" "MYO15A(NM_016239.3):c.915C>T (p.Y305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18119715C>T" "" "likely benign" "" "0000302675" "0" "30" "17" "18067053" "18067053" "subst" "0.00127303" "01943" "MYO15A_000202" "g.18067053C>A" "" "" "" "MYO15A(NM_016239.3):c.9691-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18163739C>A" "" "likely benign" "" "0000325276" "0" "30" "17" "18082164" "18082164" "subst" "0.00643777" "01804" "MYO15A_000205" "g.18082164A>G" "" "" "" "MYO15A(NM_016239.4):c.10573A>G (p.(Ser3525Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18178850A>G" "" "likely benign" "" "0000337381" "0" "30" "17" "18042265" "18042265" "subst" "0.00262629" "02327" "MYO15A_000216" "g.18042265A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18138951A>G" "" "likely benign" "" "0000337382" "0" "10" "17" "18043817" "18043817" "subst" "0.186187" "02327" "MYO15A_000218" "g.18043817C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18140503C>T" "" "benign" "" "0000337383" "0" "10" "17" "18045098" "18045098" "subst" "0.185444" "02327" "MYO15A_000221" "g.18045098G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18141784G>A" "" "benign" "" "0000337384" "0" "10" "17" "18046058" "18046058" "subst" "0.716755" "02327" "MYO15A_000177" "g.18046058A>C" "" "" "" "MYO15A(NM_016239.3):c.5826-12A>C, MYO15A(NM_016239.4):c.5826-12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18142744A>C" "" "benign" "" "0000337385" "0" "30" "17" "18052914" "18052914" "subst" "4.06402E-6" "02327" "MYO15A_000226" "g.18052914G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18149600G>A" "" "likely benign" "" "0000337386" "0" "10" "17" "18054692" "18054692" "subst" "0.187279" "02327" "MYO15A_000230" "g.18054692G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18151378G>A" "" "benign" "" "0000337387" "0" "10" "17" "18057215" "18057215" "subst" "0.187504" "02327" "MYO15A_000192" "g.18057215C>G" "" "" "" "MYO15A(NM_016239.4):c.8088+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18153901C>G" "" "benign" "" "0000337388" "0" "10" "17" "18059494" "18059494" "subst" "0.335008" "02327" "MYO15A_000198" "g.18059494C>T" "" "" "" "MYO15A(NM_016239.4):c.8460-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18156180C>T" "" "benign" "" "0000337389" "0" "30" "17" "18061830" "18061830" "subst" "8.14392E-6" "02327" "MYO15A_000234" "g.18061830T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18158516T>C" "" "likely benign" "" "0000337390" "0" "90" "17" "18061836" "18061836" "subst" "8.14259E-6" "02327" "MYO15A_000235" "g.18061836G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18158522G>T" "" "pathogenic" "" "0000337391" "0" "10" "17" "18065888" "18065888" "subst" "0.168475" "02327" "MYO15A_000201" "g.18065888T>C" "" "" "" "MYO15A(NM_016239.4):c.9518-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162574T>C" "" "benign" "" "0000338990" "0" "50" "17" "18039887" "18039887" "subst" "2.03396E-5" "02327" "MYO15A_000168" "g.18039887G>A" "" "" "" "MYO15A(NM_016239.3):c.4666G>A (p.A1556T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18136573G>A" "" "VUS" "" "0000339568" "0" "10" "17" "18041507" "18041507" "subst" "0.531814" "02327" "MYO15A_000171" "g.18041507C>T" "" "" "" "MYO15A(NM_016239.4):c.4954C>T (p.L1652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18138193C>T" "" "benign" "" "0000339569" "0" "10" "17" "18052867" "18052867" "subst" "0.986384" "02327" "MYO15A_000187" "g.18052867T>C" "" "" "" "MYO15A(NM_016239.4):c.7185T>C (p.F2395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18149553T>C" "" "benign" "" "0000339570" "0" "10" "17" "18054453" "18054453" "subst" "0.0281357" "02327" "MYO15A_000229" "g.18054453G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18151139G>A" "" "benign" "" "0000339571" "0" "10" "17" "18055229" "18055229" "subst" "0.509169" "02327" "MYO15A_000189" "g.18055229G>A" "" "" "" "MYO15A(NM_016239.4):c.7857G>A (p.G2619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18151915G>A" "" "benign" "" "0000339572" "0" "10" "17" "18058521" "18058521" "subst" "0.336014" "02327" "MYO15A_000196" "g.18058521C>T" "" "" "" "MYO15A(NM_016239.4):c.8322C>T (p.S2774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18155207C>T" "" "benign" "" "0000339573" "0" "10" "17" "18064730" "18064730" "subst" "0.169595" "02327" "MYO15A_000200" "g.18064730C>T" "" "" "" "MYO15A(NM_016239.4):c.9486C>T (p.D3162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18161416C>T" "" "benign" "" "0000339574" "0" "10" "17" "18077175" "18077175" "subst" "0.733356" "02327" "MYO15A_000204" "g.18077175T>C" "" "" "" "MYO15A(NM_016239.4):c.10431T>C (p.Y3477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18173861T>C" "" "benign" "" "0000340929" "0" "10" "17" "18024013" "18024013" "subst" "0.460178" "02327" "MYO15A_000156" "g.18024013A>G" "" "" "" "MYO15A(NM_016239.3):c.1899A>G (p.P633=), MYO15A(NM_016239.4):c.1899A>G (p.P633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120699A>G" "" "benign" "" "0000341513" "0" "10" "17" "18023897" "18023897" "subst" "0.45373" "02327" "MYO15A_000211" "g.18023897G>A" "" "" "" "MYO15A(NM_016239.3):c.1783G>A (p.A595T), MYO15A(NM_016239.4):c.1783G>A (p.A595T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120583G>A" "" "benign" "" "0000341735" "0" "90" "17" "18025499" "18025499" "subst" "9.35423E-5" "02327" "MYO15A_000141" "g.18025499C>T" "" "" "" "MYO15A(NM_016239.3):c.3385C>T (p.R1129*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18122185C>T" "" "pathogenic" "" "0000341957" "0" "90" "17" "18039061" "18039061" "subst" "4.06537E-6" "02327" "MYO15A_000214" "g.18039061C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18135747C>T" "" "pathogenic" "" "0000342089" "0" "50" "17" "18043906" "18043906" "subst" "0.00180046" "02327" "MYO15A_000129" "g.18043906C>T" "" "" "" "MYO15A(NM_016239.3):c.5287C>T (p.R1763W), MYO15A(NM_016239.4):c.5287C>T (p.R1763W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18140592C>T" "" "VUS" "" "0000342174" "0" "50" "17" "18046110" "18046110" "subst" "0.000278191" "02327" "MYO15A_000179" "g.18046110C>T" "" "" "" "MYO15A(NM_016239.3):c.5866C>T (p.R1956W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18142796C>T" "" "VUS" "" "0000342321" "0" "90" "17" "18052202" "18052202" "subst" "0" "02327" "MYO15A_000225" "g.18052202C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18148888C>T" "" "pathogenic" "" "0000342501" "0" "90" "17" "18058028" "18058028" "subst" "0.000195284" "02327" "MYO15A_000028" "g.18058028G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18154714G>A" "" "pathogenic" "" "0000342680" "0" "50" "17" "18075071" "18075071" "subst" "2.91242E-5" "02327" "MYO15A_000238" "g.18075071G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18171757G>A" "" "VUS" "" "0000344024" "0" "50" "17" "18055194" "18055194" "subst" "3.20862E-5" "02327" "MYO15A_000231" "g.18055194G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18151880G>A" "" "VUS" "" "0000344300" "0" "10" "17" "18046898" "18046898" "subst" "0.7313" "02327" "MYO15A_000182" "g.18046898T>C" "" "" "" "MYO15A(NM_016239.3):c.5929T>C (p.C1977R), MYO15A(NM_016239.4):c.5929T>C (p.C1977R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18143584T>C" "" "benign" "" "0000344609" "0" "90" "17" "18043945" "18043945" "subst" "0" "02327" "MYO15A_000219" "g.18043945C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18140631C>T" "" "pathogenic" "" "0000345148" "0" "50" "17" "18039039" "18039039" "subst" "0.000784457" "02327" "MYO15A_000135" "g.18039039G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18135725G>T" "" "VUS" "" "0000345231" "0" "90" "17" "18022739" "18022739" "subst" "4.14638E-6" "02327" "MYO15A_000126" "g.18022739G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18119425G>T" "" "pathogenic" "" "0000345839" "0" "10" "17" "18047189" "18047189" "subst" "0.190929" "02327" "MYO15A_000222" "g.18047189G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18143875G>A" "" "benign" "" "0000345883" "0" "70" "17" "18052097" "18052097" "subst" "3.13014E-5" "02327" "MYO15A_000146" "g.18052097G>A" "" "" "" "MYO15A(NM_016239.3):c.6787G>A (p.G2263S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18148783G>A" "" "likely pathogenic" "" "0000346091" "0" "30" "17" "18023499" "18023499" "subst" "0.00357175" "02327" "MYO15A_000152" "g.18023499G>A" "" "" "" "MYO15A(NM_016239.3):c.1385G>A (p.G462D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120185G>A" "" "likely benign" "" "0000346959" "0" "90" "17" "18044432" "18044432" "del" "0" "02327" "MYO15A_000220" "g.18044432del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18141118del" "" "pathogenic" "" "0000347404" "0" "50" "17" "18030410" "18030410" "subst" "0" "02327" "MYO15A_000213" "g.18030410A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18127096A>C" "" "VUS" "" "0000347737" "0" "30" "17" "18027866" "18027866" "subst" "0" "02327" "MYO15A_000212" "g.18027866A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18124552A>C" "" "likely benign" "" "0000347844" "0" "50" "17" "18023501" "18023501" "subst" "0.00123916" "02327" "MYO15A_000153" "g.18023501A>G" "" "" "" "MYO15A(NM_016239.3):c.1387A>G (p.M463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120187A>G" "" "VUS" "" "0000348271" "0" "70" "17" "18047838" "18047838" "subst" "7.31993E-5" "02327" "MYO15A_000223" "g.18047838C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18144524C>T" "" "likely pathogenic" "" "0000348316" "0" "50" "17" "18054449" "18054449" "subst" "3.25227E-5" "02327" "MYO15A_000228" "g.18054449C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18151135C>T" "" "VUS" "" "0000348377" "0" "70" "17" "18065965" "18065965" "subst" "4.06564E-6" "02327" "MYO15A_000236" "g.18065965C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18162651C>G" "" "likely pathogenic" "" "0000348909" "0" "50" "17" "18059591" "18059591" "subst" "0" "02327" "MYO15A_000233" "g.18059591T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18156277T>G" "" "VUS" "" "0000349845" "0" "10" "17" "18024266" "18024266" "subst" "0.447611" "02327" "MYO15A_000158" "g.18024266T>G" "" "" "" "MYO15A(NM_016239.3):c.2152T>G (p.W718G), MYO15A(NM_016239.4):c.2152T>G (p.W718G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120952T>G" "" "benign" "" "0000350014" "0" "10" "17" "18057167" "18057167" "subst" "0.337234" "02327" "MYO15A_000191" "g.18057167A>T" "" "" "" "MYO15A(NM_016239.4):c.8045A>T (p.Y2682F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18153853A>T" "" "benign" "" "0000350024" "0" "90" "17" "18058744" "18058744" "subst" "8.1586E-6" "02327" "MYO15A_000232" "g.18058744C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18155430C>G" "" "pathogenic" "" "0000350347" "0" "50" "17" "18042882" "18042882" "subst" "0" "02327" "MYO15A_000217" "g.18042882T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18139568T>A" "" "VUS" "" "0000350565" "0" "50" "17" "18023568" "18023568" "subst" "0.00100895" "02327" "MYO15A_000208" "g.18023568T>C" "" "" "" "MYO15A(NM_016239.3):c.1454T>C (p.V485A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18120254T>C" "" "VUS" "" "0000350982" "0" "90" "17" "18051884" "18051884" "subst" "2.00862E-5" "02327" "MYO15A_000127" "g.18051884T>A" "" "" "" "MYO15A(NM_016239.3):c.6764+2T>A, MYO15A(NM_016239.4):c.6764+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18148570T>A" "" "pathogenic" "" "0000350983" "0" "90" "17" "18055266" "18055266" "subst" "1.92411E-5" "02327" "MYO15A_000134" "g.18055266G>A" "" "" "" "MYO15A(NM_016239.3):c.7893+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18151952G>A" "" "pathogenic" "" "0000350984" "0" "50" "17" "18058544" "18058544" "subst" "1.21899E-5" "02327" "MYO15A_000197" "g.18058544G>A" "" "" "" "MYO15A(NM_016239.3):c.8340+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18155230G>A" "" "VUS" "" "0000350985" "0" "90" "17" "18075086" "18075086" "subst" "0" "02327" "MYO15A_000239" "g.18075086G>A" "" "" "" "MYO15A(NM_016239.3):c.10216+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18171772G>A" "" "pathogenic" "" "0000355084" "3" "90" "17" "18061958" "18061958" "subst" "0" "02393" "MYO15A_000240" "g.18061958T>A" "" "" "" "" "not in 220 control chromosomes" "Germline" "yes" "" "0" "" "" "g.18158644T>A" "" "pathogenic" "" "0000367549" "11" "99" "17" "18012020" "18083116" "del" "0" "02416" "MYO15A_000040" "g.(?_18012020)_(18083116_?)del" "" "{PMID:Liburd et al., 2001:11735029}" "" "" "Heterozygous, responsible for SMS" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367550" "3" "15" "17" "18022039" "18022039" "subst" "0" "02416" "MYO15A_000042" "g.18022039A>C" "" "{PMID:Kalay et al., 2007:17853461}" "+BsaI;" "" "homozygous" "Germline" "" "rs854818" "0" "" "" "g.18118725A>C" "" "VUS" "ACMG" "0000367551" "0" "13" "17" "18022168" "18022168" "subst" "0.00159877" "02416" "MYO15A_000056" "g.18022168G>A" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "" "" "Heterozygous" "Germline" "" "rs144909486" "0" "" "" "g.18118854G>A" "" "likely benign" "ACMG" "0000367552" "21" "99" "17" "18022487" "18022488" "del" "4.21092E-6" "02416" "MYO15A_000029" "g.18022487_18022488del" "3/480 controls" "{PMID:Brownstein et al., 2011:21917145}" "+BceAI;-BssKI;-StyD4I;-MspI;-HpaII;-ScrFI" "373delCG and as p.(Arg125Valfs*101)" "Heterozygous" "Germline" "" "" "0" "" "" "g.18119173_18119174del" "" "pathogenic" "" "0000367553" "21" "99" "17" "18022487" "18022488" "del" "4.21092E-6" "02416" "MYO15A_000029" "g.18022487_18022488del" "3/480 controls" "{PMID:Brownstein et al., 2011:21917145}" "+BceAI;-BssKI;-StyD4I;-MspI;-HpaII;-ScrFI" "373delCG and as p.(Arg125Valfs*101)" "Heterozygous" "Germline" "" "" "0" "" "" "g.18119173_18119174del" "" "pathogenic" "" "0000367554" "3" "99" "17" "18022567" "18022569" "delins" "0" "02416" "MYO15A_000092" "g.18022567_18022569delinsTGGACGCCTGGTCGGGCAGTGG" "0/200 controls" "{PMID:Vozzi et al., 2014:24657061}" "" "(p.Glu152Glyfs*81)" "homozygous" "Germline" "" "" "0" "" "" "g.18119253_18119255delinsTGGACGCCTGGTCGGGCAGTGG" "" "pathogenic" "" "0000367555" "0" "13" "17" "18022920" "18022920" "subst" "4.62733E-5" "02416" "MYO15A_000064" "g.18022920C>T" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "-HpaII;-MspI;-NciI;" "" "heterozygous, {MSV3dQ9UKN7:p.Pro269Leu}" "Germline" "" "" "0" "" "" "g.18119606C>T" "" "likely benign" "ACMG" "0000367556" "3" "99" "17" "18022981" "18022981" "subst" "0" "02416" "MYO15A_000032" "g.18022981C>G" "0/200 controls" "{PMID:Duman et al., 2011:21117948}" "+CviQI;+SpeI;+BfaI;+RsaI" "" "homozygous" "Germline" "" "" "0" "" "" "g.18119667C>G" "" "pathogenic" "" "0000367557" "11" "99" "17" "18023251" "18023251" "del" "0" "02416" "MYO15A_000090" "g.18023251del" "" "{PMID:Vona et al., 2014:24875298}" "" "1137delC" "Heterozygous" "Germline" "" "" "0" "" "" "g.18119937del" "" "pathogenic" "" "0000367558" "11" "99" "17" "18023293" "18023299" "dup" "0" "02416" "MYO15A_000106" "g.18023293_18023299dup" "0/144 controls" "{PMID:Miyagawa et al., 2013:23967202}" "" "1179_1185insC and as p.P393fs" "Heterozygous" "Germline" "" "" "0" "" "" "g.18119979_18119985dup" "" "pathogenic" "" "0000367559" "3" "99" "17" "18023299" "18023299" "dup" "0" "02416" "MYO15A_000030" "g.18023299dup" "" "{PMID:Bashir et al., 2012:22245518}" "none" "1185dupC" "" "Germline" "yes" "" "0" "" "" "g.18119985dup" "" "pathogenic (recessive)" "" "0000367560" "11" "99" "17" "18023299" "18023299" "dup" "0" "02416" "MYO15A_000030" "g.18023299dup" "" "{PMID:Miyagawa et al., 2013:24130743}" "" "1179_1185insC" "Heterozygous" "Germline" "" "" "0" "" "" "g.18119985dup" "" "pathogenic" "" "0000367561" "11" "99" "17" "18023299" "18023299" "dup" "0" "02416" "MYO15A_000030" "g.18023299dup" "" "{PMID:Miyagawa et al., 2013:24130743}" "" "1179_1185insC" "Heterozygous" "Germline" "" "" "0" "" "" "g.18119985dup" "" "pathogenic" "" "0000367562" "11" "95" "17" "18023337" "18023337" "subst" "2.0325E-5" "02421" "MYO15A_000072" "g.18023337C>T" "" "" "" "" "heterozygous, {MSV3dQ9UKN7:p.Ala408Val}" "Germline" "" "" "0" "" "" "g.18120023C>T" "" "pathogenic" "" "0000367563" "21" "75" "17" "18023337" "18023337" "subst" "2.0325E-5" "02416" "MYO15A_000072" "g.18023337C>T" "0/200 controls" "{PMID:Brownstein et al., 2014:24105371}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Ala408Val}" "Germline" "" "rs191710555" "0" "" "" "g.18120023C>T" "" "VUS" "ACMG" "0000367564" "21" "75" "17" "18023337" "18023337" "subst" "2.0325E-5" "02416" "MYO15A_000072" "g.18023337C>T" "0/200 controls" "{PMID:Brownstein et al., 2014:24105371}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Ala408Val}" "Germline" "" "rs191710555" "0" "" "" "g.18120023C>T" "" "VUS" "ACMG" "0000367565" "0" "13" "17" "18023499" "18023499" "subst" "0.00357175" "02416" "MYO15A_000058" "g.18023499G>A" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Gly462Asp}" "Germline" "" "rs45292219" "0" "" "" "g.18120185G>A" "" "likely benign" "ACMG" "0000367566" "3" "99" "17" "18023501" "18023501" "subst" "0.00123916" "02416" "MYO15A_000077" "g.18023501A>G" "" "{PMID:Fattahi et al,.2012:22736430}" "" "" "homozygous, {MSV3dQ9UKN7:p.Met463Val}" "Germline" "" "" "0" "" "" "g.18120187A>G" "" "pathogenic" "" "0000367567" "0" "35" "17" "18023770" "18023770" "subst" "0" "02416" "MYO15A_000063" "g.18023770C>T" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "+BccI;-BslI;-HpaII;-MspI;-NciI;" "" "" "Germline" "" "" "0" "" "" "g.18120456C>T" "" "VUS" "ACMG" "0000367568" "3" "15" "17" "18023897" "18023897" "subst" "0.45373" "02416" "MYO15A_000043" "g.18023897G>A" "" "{PMID:Kalay et al., 2007:17853461}" "+BbsI;+MboII;-PhoI;-Sau96I;-HaeIII;-HpyAV;" "" "homozygous, {MSV3dQ9UKN7:p.Ala595Thr}" "Germline" "" "rs2955365" "0" "" "" "g.18120583G>A" "" "VUS" "ACMG" "0000367569" "3" "15" "17" "18024013" "18024013" "subst" "0.460178" "02416" "MYO15A_000044" "g.18024013A>G" "" "{PMID:Kalay et al., 2007:17853461}" "+BssHII;+Fnu4HI;+AciI;" "" "homozygous" "Germline" "" "rs2955366" "0" "" "" "g.18120699A>G" "" "VUS" "ACMG" "0000367570" "3" "15" "17" "18024266" "18024266" "subst" "0.447611" "02416" "MYO15A_000045" "g.18024266T>G" "" "{PMID:Kalay et al., 2007:17853461}" "+FauI;+AciI;-PvuII;-AluI;-CviKI_1;" "" "homozygous, {MSV3dQ9UKN7:p.Trp718Gly}" "Germline" "" "rs2955367" "0" "" "" "g.18120952T>G" "" "VUS" "ACMG" "0000367571" "3" "95" "17" "18025140" "18025140" "subst" "0.00604152" "02416" "MYO15A_000071" "g.18025140C>A" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "homozygous, {MSV3dQ9UKN7:P1009H}" "Germline" "" "rs117612144" "0" "" "" "g.18121826C>A" "" "VUS" "ACMG" "0000367572" "3" "99" "17" "18025427" "18025427" "subst" "0" "02416" "MYO15A_000004" "g.18025427G>T" "0/226 controls" "{PMID:Nal et al., 2007:17546645}" "+HincII;+MseI;+HpaI;-HphI" "" "homozygous" "Germline" "" "rs121908971" "0" "" "" "g.18122113G>T" "" "pathogenic" "" "0000367573" "3" "99" "17" "18025450" "18025450" "del" "0" "02416" "MYO15A_000005" "g.18025450del" "0/226 controls" "{PMID:Nal et al., 2007:17546645}" "none" "3334delG" "homozygous" "Germline" "" "" "0" "" "" "g.18122136del" "" "pathogenic" "" "0000367574" "0" "11" "17" "18025527" "18025527" "subst" "0.0136826" "02416" "MYO15A_000060" "g.18025527A>G" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "+AvaI;+BsoBI;+HinfI;+MlyI;+PaeR7I;-BpuEI;" "" "heterozygous, {MSV3dQ9UKN7:p.Gln1138Arg}" "Germline" "" "rs76468019" "0" "" "" "g.18122213A>G" "" "benign" "" "0000367575" "0" "99" "17" "18025619" "18025619" "subst" "1.22637E-5" "02416" "MYO15A_000113" "g.18025619C>T" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "Heterozygous" "Germline" "" "rs781546107" "0" "" "" "g.18122305C>T" "" "pathogenic" "" "0000367576" "3" "15" "17" "18025744" "18025744" "subst" "0.459486" "02416" "MYO15A_000046" "g.18025744C>G" "" "{PMID:Kalay et al., 2007:17853461}" "none" "" "homozygous" "Germline" "" "rs712268" "0" "" "" "g.18122430C>G" "" "VUS" "ACMG" "0000367577" "0" "15" "17" "18027845" "18027845" "subst" "0.00024515" "02416" "MYO15A_000089" "g.18027845G>C" "" "{PMID:Woo et al,.2013:23865914}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Gly1220Arg}" "Germline" "" "rs146754758" "0" "" "" "g.18124531G>C" "" "VUS" "ACMG" "0000367578" "3" "99" "17" "18027872" "18027872" "subst" "0" "02416" "MYO15A_000001" "g.18027872C>T" "0/200 controls" "{PMID:Liburd et al., 2001:11735029}" "-PvuII;-MspA1I" "4023C>T (AF144094)" "homozygous" "Germline" "" "rs121908968" "0" "" "" "g.18124558C>T" "" "pathogenic" "" "0000367579" "3" "95" "17" "18028546" "18028546" "subst" "0" "02416" "MYO15A_000002" "g.18028546G>T" "0/200 controls" "{PMID:Liburd et al., 2001:11735029}" "+AflII;+SmlI;+MseI;-HpyCH4IV;-BsaAI;-SnaBI" "IVS4+1G>T" "homozygous" "Germline" "" "" "0" "" "" "g.18125232G>T" "" "VUS" "ACMG" "0000367580" "3" "95" "17" "18029662" "18029662" "subst" "0" "02416" "MYO15A_000006" "g.18029662C>T" "0/296 controls" "{PMID:Nal et al., 2007:17546645}" "none" "" "homozygous, {MSV3dQ9UKN7:p.Thr1253Ile}" "Germline" "" "" "0" "" "" "g.18126348C>T" "" "VUS" "ACMG" "0000367581" "3" "99" "17" "18029771" "18029771" "subst" "1.63247E-5" "02416" "MYO15A_000007" "g.18029771G>A" "0/264 controls" "{PMID:Nal et al., 2007:17546645}" "+FatI;+NlaIII;+CviAII" "p.T1253fsX1277" "homozygous" "Germline" "" "rs374742590" "0" "" "" "g.18126457G>A" "" "pathogenic" "" "0000367582" "3" "99" "17" "18029771" "18029771" "subst" "1.63247E-5" "02416" "MYO15A_000007" "g.18029771G>A" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "+FatI;+NlaIII;+CviAII" "" "homozygous" "Germline" "" "rs374742590" "0" "" "" "g.18126457G>A" "" "pathogenic" "" "0000367583" "3" "99" "17" "18029771" "18029771" "subst" "1.63247E-5" "02416" "MYO15A_000007" "g.18029771G>A" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "+FatI;+NlaIII;+CviAII" "" "homozygous" "Germline" "" "rs374742590" "0" "" "" "g.18126457G>A" "" "pathogenic" "" "0000367584" "3" "99" "17" "18029771" "18029771" "subst" "1.63247E-5" "02416" "MYO15A_000007" "g.18029771G>A" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "+FatI;+NlaIII;+CviAII" "" "homozygous" "Germline" "" "rs374742590" "0" "" "" "g.18126457G>A" "" "pathogenic" "" "0000367585" "3" "99" "17" "18029771" "18029771" "subst" "1.63247E-5" "02416" "MYO15A_000007" "g.18029771G>A" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "+FatI;+NlaIII;+CviAII" "" "homozygous" "Germline" "" "rs374742590" "0" "" "" "g.18126457G>A" "" "pathogenic" "" "0000367586" "3" "99" "17" "18029771" "18029771" "subst" "1.63247E-5" "02416" "MYO15A_000007" "g.18029771G>A" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "+FatI;+NlaIII;+CviAII" "" "homozygous" "Germline" "" "rs374742590" "0" "" "" "g.18126457G>A" "" "pathogenic" "" "0000367587" "3" "99" "17" "18029771" "18029771" "subst" "1.63247E-5" "02416" "MYO15A_000007" "g.18029771G>A" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "+FatI;+NlaIII;+CviAII" "" "homozygous" "Germline" "" "rs374742590" "0" "" "" "g.18126457G>A" "" "pathogenic" "" "0000367588" "3" "99" "17" "18029771" "18029771" "subst" "1.63247E-5" "02416" "MYO15A_000007" "g.18029771G>A" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "+FatI;+NlaIII;+CviAII" "" "homozygous" "Germline" "" "rs374742590" "0" "" "" "g.18126457G>A" "" "pathogenic" "" "0000367589" "0" "95" "17" "18030130" "18030130" "subst" "1.62441E-5" "02416" "MYO15A_000102" "g.18030130G>A" "" "{PMID:Gu, Guo et al., 2014:24853665}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Ala1298Thr}" "Germline" "" "" "0" "" "" "g.18126816G>A" "" "VUS" "ACMG" "0000367590" "3" "99" "17" "18034815" "18034815" "subst" "0" "02416" "MYO15A_000008" "g.18034815C>A" "0/276 controls" "{PMID:Nal et al., 2007:17546645}" "-CviQI;-BspMI;-BfuAI;-RsaI" "" "homozygous" "Germline" "" "" "0" "" "" "g.18131501C>A" "" "pathogenic" "" "0000367591" "11" "75" "17" "18034832" "18034832" "subst" "0" "02416" "MYO15A_000111" "g.18034832G>A" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Arg1398Lys}" "Germline" "" "" "0" "" "" "g.18131518G>A" "" "VUS" "ACMG" "0000367592" "3" "95" "17" "18034837" "18034837" "subst" "3.65619E-5" "02416" "MYO15A_000035" "g.18034837G>A" "0/200 controls" "{PMID:Cengiz et al., 2010:20642360}" "+FatI;+NlaIII;+CviAII" "" "homozygous, {MSV3dQ9UKN7:p.Val1400Met}" "Germline" "" "" "0" "" "" "g.18131523G>A" "" "VUS" "ACMG" "0000367593" "3" "75" "17" "18035800" "18035800" "subst" "4.06679E-6" "02416" "MYO15A_000027" "g.18035800G>A" "0/480 controls" "{PMID:Brownstein et al., 2011:21917145}" "" "" "homozygous, {MSV3dQ9UKN7:p.Glu1414Lys}" "Germline" "" "" "0" "" "" "g.18132486G>A" "" "VUS" "ACMG" "0000367594" "11" "75" "17" "18035800" "18035800" "subst" "4.06679E-6" "02416" "MYO15A_000027" "g.18035800G>A" "0/200 controls" "{PMID:Brownstein et al., 2014:24105371}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Glu1414Lys}" "Germline" "" "" "0" "" "" "g.18132486G>A" "" "VUS" "ACMG" "0000367595" "3" "75" "17" "18035800" "18035800" "subst" "4.06679E-6" "02416" "MYO15A_000027" "g.18035800G>A" "0/480 controls" "{PMID:Brownstein et al., 2011:21917145}" "" "" "homozygous, {MSV3dQ9UKN7:p.Glu1414Lys}" "Germline" "" "" "0" "" "" "g.18132486G>A" "" "VUS" "ACMG" "0000367596" "3" "75" "17" "18035800" "18035800" "subst" "4.06679E-6" "02416" "MYO15A_000027" "g.18035800G>A" "0/480 controls" "{PMID:Brownstein et al., 2011:21917145}" "" "" "homozygous, {MSV3dQ9UKN7:p.Glu1414Lys}" "Germline" "" "" "0" "" "" "g.18132486G>A" "" "VUS" "ACMG" "0000367597" "11" "75" "17" "18035800" "18035800" "subst" "4.06679E-6" "02416" "MYO15A_000027" "g.18035800G>A" "0/200 controls" "{PMID:Brownstein et al., 2011:21917145}" "" "" "homozygous, {MSV3dQ9UKN7:p.Glu1414Lys}" "Germline" "" "" "0" "" "" "g.18132486G>A" "" "VUS" "ACMG" "0000367598" "3" "99" "17" "18035833" "18035833" "subst" "0" "02416" "MYO15A_000086" "g.18035833C>T" "" "{PMID:Diaz-Horta et al., 2012:23226338}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.18132519C>T" "" "pathogenic" "" "0000367599" "2" "99" "17" "18035881" "18035881" "subst" "0" "02416" "MYO15A_000082" "g.18035881G>A" "0/818 controls" "{PMID:Woo et al,.2013:23865914}" "" "IVS11+1G>A" "Heterozygous" "Germline" "" "" "0" "" "" "g.18132567G>A" "" "pathogenic" "" "0000367600" "0" "95" "17" "18036540" "18036540" "subst" "8.1359E-6" "02416" "MYO15A_000104" "g.18036540G>T" "" "{PMID:Gu, Guo et al., 2014:24853665}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Gly1441Val}" "Germline" "" "" "0" "" "" "g.18133226G>T" "" "VUS" "ACMG" "0000367601" "0" "75" "17" "18036540" "18036540" "subst" "8.1359E-6" "02416" "MYO15A_000104" "g.18036540G>T" "0/144 controls" "{PMID:Miyagawa et al., 2013:23967202}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Gly1441Val}" "Germline" "" "" "0" "" "" "g.18133226G>T" "" "VUS" "ACMG" "0000367602" "3" "95" "17" "18036569" "18036569" "subst" "1.21914E-5" "02416" "MYO15A_000009" "g.18036569G>A" "0/278 controls" "{PMID:Nal et al., 2007:17546645}" "+BsrDI;-SfaNI;-BtgZI" "" "homozygous, {MSV3dQ9UKN7:p.Asp1451Asn}" "Germline" "" "" "0" "" "" "g.18133255G>A" "" "VUS" "ACMG" "0000367603" "3" "95" "17" "18036659" "18036659" "subst" "4.06293E-6" "02416" "MYO15A_000036" "g.18036659T>C" "0/200 controls" "{PMID:Cengiz et al., 2010:20642360}" "+Sau96I;+NlaIV;-MnlI" "" "homozygous, {MSV3dQ9UKN7:p.Ser1481Pro}" "Germline" "" "" "0" "" "" "g.18133345T>C" "" "VUS" "ACMG" "0000367604" "3" "99" "17" "18036659" "18036659" "subst" "4.06293E-6" "02416" "MYO15A_000087" "g.18036659T>C" "" "{PMID20642360 :Cengiz et al,.2010}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.18133345T>C" "" "pathogenic" "" "0000367605" "3" "99" "17" "18039786" "18039786" "subst" "0" "02416" "MYO15A_000085" "g.18039786C>A" "" "{PMID:Diaz-Horta et al., 2012:23226338}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.18136472C>A" "" "pathogenic" "" "0000367606" "0" "13" "17" "18039800" "18039800" "subst" "0.00286924" "02416" "MYO15A_000061" "g.18039800G>A" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "" "" "Heterozygous" "Germline" "" "rs117021471" "0" "" "" "g.18136486G>A" "" "likely benign" "ACMG" "0000367607" "3" "95" "17" "18039890" "18039890" "subst" "0" "02416" "MYO15A_000011" "g.18039890A>G" "0/286 controls" "{PMID:Nal et al., 2007:17546645}" "+MnlI;+NmeAIII;-StyI" "" "homozygous, {MSV3dQ9UKN7:p.Lys1557Glu}" "Germline" "" "" "0" "" "" "g.18136576A>G" "" "VUS" "ACMG" "0000367608" "21" "95" "17" "18039998" "18039998" "subst" "7.08617E-5" "02416" "MYO15A_000109" "g.18039998G>A" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Glu1593Lys}" "Germline" "" "rs376469502" "0" "" "" "g.18136684G>A" "" "likely pathogenic" "ACMG" "0000367609" "0" "99" "17" "18040002" "18040002" "subst" "0" "02416" "MYO15A_000115" "g.18040002T>C" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.18136688T>C" "" "pathogenic" "" "0000367610" "0" "95" "17" "18041451" "18041451" "subst" "8.15754E-6" "02416" "MYO15A_000105" "g.18041451T>C" "" "{PMID:Gu, Guo et al., 2014:24853665}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Ile1633Thr}" "Germline" "" "rs576399072" "0" "" "" "g.18138137T>C" "" "VUS" "ACMG" "0000367611" "3" "99" "17" "18041462" "18041464" "del" "0" "02416" "MYO15A_000080" "g.18041462_18041464del" "" "{PMID:Fattahi et al,.2012:22736430}" "" "4904-4907delGAG" "homozygous" "Germline" "" "" "0" "" "" "g.18138148_18138150del" "" "pathogenic" "" "0000367612" "3" "99" "17" "18041551" "18041551" "subst" "0" "02416" "MYO15A_000037" "g.18041551C>A" "0/100 controls" "{PMID:Belguith et al., 2009:19309289}" "none" "" "homozygous" "Germline" "" "" "0" "" "" "g.18138237C>A" "" "pathogenic" "" "0000367613" "3" "99" "17" "18042234" "18042235" "del" "0" "02416" "MYO15A_000010" "g.18042234_18042235del" "0/128 controls" "{PMID:Nal et al., 2007:17546645}" "+HpyAV;-Cac8I" "5117_5118GC>TT" "homozygous" "Germline" "" "" "0" "" "" "g.18138920_18138921del" "" "pathogenic" "" "0000367614" "0" "13" "17" "18042265" "18042265" "subst" "0.00262629" "02416" "MYO15A_000059" "g.18042265A>G" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "+BsiEI;+BslI;" "" "Heterozygous" "Germline" "" "rs150128469" "0" "" "" "g.18138951A>G" "" "likely benign" "ACMG" "0000367615" "3" "95" "17" "18042903" "18042903" "subst" "0" "02416" "MYO15A_000012" "g.18042903T>C" "1/242 controls" "{PMID:Nal et al., 2007:17546645}" "+NlaIV" "" "homozygous, {MSV3dQ9UKN7:p.Leu1730Pro}" "Germline" "" "" "0" "" "" "g.18139589T>C" "" "VUS" "ACMG" "0000367616" "3" "99" "17" "18043924" "18043924" "subst" "0" "02416" "MYO15A_000074" "g.18043924A>G" "" "{PMID:Fattahi et al,.2012:22736430}" "" "" "homozygous, {MSV3dQ9UKN7:p.Thr1769Ala}" "Germline" "" "" "0" "" "" "g.18140610A>G" "" "pathogenic" "" "0000367617" "3" "75" "17" "18044343" "18044343" "subst" "0" "02416" "MYO15A_000096" "g.18044343T>C" "0/300 controls" "{PMID:Riahi et al., 2014:24926664}" "" "" "homozygous, {MSV3dQ9UKN7:p.Leu1806Pro}" "Germline" "" "" "0" "" "" "g.18141029T>C" "" "VUS" "ACMG" "0000367618" "3" "55" "17" "18044343" "18044343" "subst" "0" "02416" "MYO15A_000096" "g.18044343T>C" "0/300 controls" "{PMID:Riahi et al., 2014:24926664}" "" "" "homozygous, {MSV3dQ9UKN7:p.Leu1806Pro}" "Germline" "" "" "0" "" "" "g.18141029T>C" "" "VUS" "ACMG" "0000367619" "3" "99" "17" "18044324" "18044324" "del" "0" "02416" "MYO15A_000076" "g.18044324del" "" "{PMID:Fattahi et al,.2012:22736430}" "" "5419-21delT" "homozygous\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000367620" "3" "95" "17" "18044418" "18044418" "subst" "0" "02416" "MYO15A_000053" "g.18044418G>T" "" "{PMID:Kalay et al., 2007:17853461}" "none" "exon 21" "homozygous, {MSV3dQ9UKN7:p.Gly1831Val}" "Germline" "" "rs121908972" "0" "" "" "g.18141104G>T" "" "VUS" "ACMG" "0000367621" "3" "99" "17" "18045551" "18045557" "del" "0" "02416" "MYO15A_000033" "g.18045551_18045557del" "0/200 controls" "{PMID:Duman et al., 2011:21117948}" "-NlaIV;-BanII;-ApaI;-CviKI_1;-BaeGI;-PspOMI" "5807_5813del" "homozygous" "Germline" "" "" "0" "" "" "g.18142237_18142243del" "" "pathogenic" "" "0000367622" "3" "99" "17" "18045551" "18045557" "del" "0" "02416" "MYO15A_000033" "g.18045551_18045557del" "0/200 controls" "{PMID:Cengiz et al., 2010:20642360}" "-NlaIV;-BanII;-ApaI;-CviKI_1;-BaeGI;-PspOMI" "5807_5813del" "homozygous" "Germline" "" "" "0" "" "" "g.18142237_18142243del" "" "pathogenic" "" "0000367623" "3" "99" "17" "18045551" "18045557" "del" "0" "02416" "MYO15A_000033" "g.18045551_18045557del" "0/200 controls" "{PMID:Cengiz et al., 2010:20642360}" "-NlaIV;-BanII;-ApaI;-CviKI_1;-BaeGI;-PspOMI" "5807_5813del" "homozygous" "Germline" "" "" "0" "" "" "g.18142237_18142243del" "" "pathogenic" "" "0000367624" "3" "99" "17" "18045553" "18045553" "subst" "2.85605E-5" "02416" "MYO15A_000079" "g.18045553G>A" "" "{PMID:Fattahi et al,.2012:22736430}" "" "" "homozygous, {MSV3dQ9UKN7:p.Arg1937His}" "Germline" "" "" "0" "" "" "g.18142239G>A" "" "pathogenic" "" "0000367625" "3" "15" "17" "18046058" "18046058" "subst" "0.716755" "02416" "MYO15A_000047" "g.18046058A>C" "" "{PMID:Kalay et al., 2007:17853461}" "none" "intron 23" "homozygous" "Germline" "" "rs854778" "0" "" "" "g.18142744A>C" "" "VUS" "ACMG" "0000367626" "2" "99" "17" "18046882" "18046882" "subst" "0" "02416" "MYO15A_000084" "g.18046882G>A" "0/216 controls" "{PMID:Gao et al,.2013:24206587}" "" "splice site" "Heterozygous" "Germline" "" "" "0" "" "" "g.18143568G>A" "" "pathogenic" "" "0000367627" "3" "99" "17" "18046894" "18046894" "subst" "0.0020308" "02416" "MYO15A_000075" "g.18046894G>A" "" "{PMID:Fattahi et al,.2012:22736430}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.18143580G>A" "" "pathogenic" "" "0000367628" "3" "15" "17" "18046898" "18046898" "subst" "0.7313" "02416" "MYO15A_000048" "g.18046898T>C" "" "{PMID:Kalay et al., 2007:17853461}" "+HinP1I;+HaeII;+NarI;+KasI;+BsaHI;+SfoI;" "5927T>C and as in exon 25" "homozygous, {MSV3dQ9UKN7:p.Cys1977Arg}" "Germline" "" "rs854777" "0" "" "" "g.18143584T>C" "" "VUS" "ACMG" "0000367629" "11" "95" "17" "18047111" "18047111" "subst" "2.66057E-5" "02416" "MYO15A_000108" "g.18047111G>A" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "Heterozygous" "Germline" "" "rs201978571" "0" "" "" "g.18143797G>A" "" "likely pathogenic" "ACMG" "0000367630" "3" "11" "17" "18047189" "18047189" "subst" "0.190929" "02416" "MYO15A_000013" "g.18047189G>A" "25/270 controls" "{PMID:Nal et al., 2007:17546645}" "+DdeI;+BspCNI;+Bsu36I;-BsoBI;-BsaJI;-AvaI" "" "homozygous, one homozygote among normal hearing controls, {MSV3dQ9UKN7:p.Gly2018Arg}" "Germline" "" "rs2272571" "0" "" "" "g.18143875G>A" "" "benign" "" "0000367631" "3" "99" "17" "18047198" "18047198" "subst" "0" "02416" "MYO15A_000014" "g.18047198C>T" "0/270 controls" "{PMID:Nal et al., 2007:17546645}" "+BfaI;+AvrII;+StyI;-BssKI;-StyD4I;-BstNI" "" "" "Germline" "" "" "0" "" "" "g.18143884C>T" "" "pathogenic" "" "0000367632" "3" "95" "17" "18047850" "18047850" "subst" "0" "02416" "MYO15A_000025" "g.18047850C>T" "0/272 controls" "{PMID:Shearer et al., 2009:19274735}" "+BtsCI;+FokI;" "6555C>T (AF144094)" "homozygous, {MSV3dQ9UKN7:p.Pro2073Ser}" "Germline" "" "" "0" "" "" "g.18144536C>T" "" "VUS" "ACMG" "0000367633" "1" "99" "17" "18049349" "18049349" "subst" "1.22156E-5" "02416" "MYO15A_000081" "g.18049349G>A" "0/818 controls" "{PMID:Woo et al,.2013:23865914}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Arg2146Gln}" "Germline" "" "" "0" "" "" "g.18146035G>A" "" "pathogenic" "" "0000367634" "0" "75" "17" "18049394" "18049394" "subst" "0" "02416" "MYO15A_000088" "g.18049394C>T" "0/818 controls" "{PMID:Woo et al,.2013:23865914}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Ser2161Phe}" "Germline" "" "" "0" "" "" "g.18146080C>T" "" "VUS" "ACMG" "0000367635" "0" "99" "17" "18049220" "18049220" "dup" "0" "02416" "MYO15A_000065" "g.18049220dup" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "6306_6307insG" "Heterozygous" "Germline" "" "" "0" "" "" "g.18145906dup" "" "pathogenic" "" "0000367636" "3" "75" "17" "18049244" "18049244" "subst" "0" "02416" "MYO15A_000100" "g.18049244A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "2668A>T" "homozygous, {MSV3dQ9UKN7:p.Asn2111Ile}" "Germline" "" "" "0" "" "" "g.18145930A>T" "" "VUS" "ACMG" "0000367637" "3" "75" "17" "18049244" "18049244" "subst" "0" "02416" "MYO15A_000100" "g.18049244A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "2668A>T" "homozygous, {MSV3dQ9UKN7:p.Asn2111Ile}" "Germline" "" "" "0" "" "" "g.18145930A>T" "" "VUS" "ACMG" "0000367638" "3" "75" "17" "18049244" "18049244" "subst" "0" "02416" "MYO15A_000100" "g.18049244A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "2668A>T" "homozygous, {MSV3dQ9UKN7:p.Asn2111Ile}" "Germline" "" "" "0" "" "" "g.18145930A>T" "" "VUS" "ACMG" "0000367639" "3" "75" "17" "18049244" "18049244" "subst" "0" "02416" "MYO15A_000100" "g.18049244A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "2668A>T" "homozygous, {MSV3dQ9UKN7:p.Asn2111Ile}" "Germline" "" "" "0" "" "" "g.18145930A>T" "" "VUS" "ACMG" "0000367640" "3" "75" "17" "18049249" "18049249" "subst" "0" "02416" "MYO15A_000099" "g.18049249A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "2674A>T" "homozygous, {MSV3dQ9UKN7:p.Ile2113Phe}" "Germline" "" "rs121908965" "0" "" "" "g.18145935A>T" "" "VUS" "ACMG" "0000367641" "3" "75" "17" "18049249" "18049249" "subst" "0" "02416" "MYO15A_000099" "g.18049249A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "2674A>T" "homozygous, {MSV3dQ9UKN7:p.Ile2113Phe}" "Germline" "" "rs121908965" "0" "" "" "g.18145935A>T" "" "VUS" "ACMG" "0000367642" "3" "75" "17" "18049249" "18049249" "subst" "0" "02416" "MYO15A_000099" "g.18049249A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "2674A>T" "homozygous, {MSV3dQ9UKN7:p.Ile2113Phe}" "Germline" "" "rs121908965" "0" "" "" "g.18145935A>T" "" "VUS" "ACMG" "0000367643" "3" "75" "17" "18049249" "18049249" "subst" "0" "02416" "MYO15A_000099" "g.18049249A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "2674A>T" "homozygous, {MSV3dQ9UKN7:p.Ile2113Phe}" "Germline" "" "rs121908965" "0" "" "" "g.18145935A>T" "" "VUS" "ACMG" "0000367644" "3" "75" "17" "18049249" "18049249" "subst" "0" "02416" "MYO15A_000099" "g.18049249A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "2674A>T" "homozygous, {MSV3dQ9UKN7:p.Ile2113Phe}" "Germline" "" "rs121908965" "0" "" "" "g.18145935A>T" "" "VUS" "ACMG" "0000367645" "3" "75" "17" "18049249" "18049249" "subst" "0" "02416" "MYO15A_000099" "g.18049249A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "2674A>T" "homozygous, {MSV3dQ9UKN7:p.Ile2113Phe}" "Germline" "" "rs121908965" "0" "" "" "g.18145935A>T" "" "VUS" "ACMG" "0000367646" "0" "75" "17" "18049252" "18049252" "subst" "8.1365E-6" "02416" "MYO15A_000070" "g.18049252G>A" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Val2114Met}" "Germline" "" "" "0" "" "" "g.18145938G>A" "" "VUS" "ACMG" "0000367647" "3" "95" "17" "18049283" "18049283" "subst" "4.06911E-6" "02416" "MYO15A_000024" "g.18049283G>A" "0/272 controls" "{PMID:Shearer et al., 2009:19274735}" "+PstI;+HpyCH4V;+SfcI;-FauI;-AciI" "" "homozygous, {MSV3dQ9UKN7:p.Arg2124Gln}" "Germline" "" "" "0" "" "" "g.18145969G>A" "" "VUS" "ACMG" "0000367648" "3" "35" "17" "18051447" "18051447" "subst" "0.00441715" "02416" "MYO15A_000020" "g.18051447C>T" "2/294 controls" "{PMID:Nal et al., 2007:17546645}" "+SfaNI" "" "homozygous, {MSV3dQ9UKN7:p.Thr2205Ile}" "Germline" "" "rs121908970" "0" "" "" "g.18148133C>T" "" "VUS" "ACMG" "0000367649" "21" "75" "17" "18051447" "18051447" "subst" "0.00441715" "02416" "MYO15A_000020" "g.18051447C>T" "0/720 controls" "{PMID:Liburd et al., 2001:11735029}" "+SfaNI" "" "hemizygous, {MSV3dQ9UKN7:p.Thr2205Ile}" "Germline" "" "rs121908970" "0" "" "" "g.18148133C>T" "" "VUS" "ACMG" "0000367650" "0" "99" "17" "18051828" "18051828" "dup" "0" "02416" "MYO15A_000116" "g.18051828dup" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "6710dupC" "Heterozygous" "Germline" "" "" "0" "" "" "g.18148514dup" "" "pathogenic" "" "0000367651" "0" "95" "17" "18051849" "18051849" "subst" "0" "02416" "MYO15A_000015" "g.18051849G>A" "0/306 controls" "{PMID:Nal et al., 2007:17546645}" "+MnlI" "" "homozygous, {MSV3dQ9UKN7:p.Gly2244Glu}" "Germline" "" "" "0" "" "" "g.18148535G>A" "" "VUS" "ACMG" "0000367652" "3" "55" "17" "18052106" "18052106" "subst" "0.00438845" "02416" "MYO15A_000021" "g.18052106G>A" "1/280 controls" "{PMID:Nal et al., 2007:17546645}" "+NlaIII;+FatI;+NcoI;+CviAII;+StyI;-HpyCH4III" "" "homozygous, {MSV3dQ9UKN7:p.Val2266Met}" "Germline" "" "rs114274755" "0" "" "" "g.18148792G>A" "" "VUS" "ACMG" "0000367653" "3" "55" "17" "18052106" "18052106" "subst" "0.00438845" "02416" "MYO15A_000021" "g.18052106G>A" "2/164 controls" "{PMID:Nal et al., 2007:17546645}" "+NlaIII;+FatI;+NcoI;+CviAII;+StyI;-HpyCH4III" "" "homozygous, {MSV3dQ9UKN7:p.Val2266Met}" "Germline" "" "rs114274755" "0" "" "" "g.18148792G>A" "" "VUS" "ACMG" "0000367654" "0" "75" "17" "18052275" "18052275" "subst" "5.43656E-6" "02416" "MYO15A_000066" "g.18052275C>G" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.18148961C>G" "" "VUS" "ACMG" "0000367655" "0" "75" "17" "18052275" "18052275" "subst" "5.43656E-6" "02416" "MYO15A_000066" "g.18052275C>G" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.18148961C>G" "" "VUS" "ACMG" "0000367656" "21" "99" "17" "18052806" "18052809" "del" "0" "02416" "MYO15A_000091" "g.18052806_18052809del" "" "{PMID:Vona et al., 2014:24875298}" "" "7124_7127delACAG" "Heterozygous" "Germline" "" "" "0" "" "" "g.18149492_18149495del" "" "pathogenic" "" "0000367657" "3" "15" "17" "18052867" "18052867" "subst" "0.986384" "02416" "MYO15A_000049" "g.18052867T>C" "" "{PMID:Kalay et al., 2007:17853461}" "+TaqI;+EarI;+MboII;" "exon 34" "homozygous" "Germline" "" "rs2955379" "0" "" "" "g.18149553T>C" "" "VUS" "ACMG" "0000367658" "3" "15" "17" "18052867" "18052867" "subst" "0.986384" "02416" "MYO15A_000049" "g.18052867T>C" "" "{PMID:Kalay et al., 2007:17853461}" "+TaqI;+EarI;+MboII;" "exon 34" "homozygous" "Germline" "" "rs2955379" "0" "" "" "g.18149553T>C" "" "VUS" "ACMG" "0000367659" "3" "99" "17" "18052889" "18052889" "subst" "0" "02416" "MYO15A_000098" "g.18052889G>T" "0/576 controls" "{PMID:Shahin, Walsh et al., 2010:19888295}" "" "7545G>T, creates altervative SD, leading to loss 7nts" "homozygous" "Germline" "" "" "0" "" "" "g.18149575G>T" "" "pathogenic" "" "0000367660" "3" "99" "17" "18052889" "18052889" "subst" "0" "02416" "MYO15A_000098" "g.18052889G>T" "0/576 controls" "{PMID:Shahin, Walsh et al., 2010:19888295}" "" "7545G>T, creates altervative SD, leading to loss 7nts" "homozygous" "Germline" "" "" "0" "" "" "g.18149575G>T" "" "pathogenic" "" "0000367661" "3" "99" "17" "18052889" "18052889" "subst" "0" "02416" "MYO15A_000098" "g.18052889G>T" "0/576 controls" "{PMID:Shahin, Walsh et al., 2010:19888295}" "" "7545G>T, creates altervative SD, leading to loss 7nts" "homozygous" "Germline" "" "" "0" "" "" "g.18149575G>T" "" "pathogenic" "" "0000367662" "3" "99" "17" "18052889" "18052889" "subst" "0" "02416" "MYO15A_000098" "g.18052889G>T" "0/576 controls" "{PMID:Shahin, Walsh et al., 2010:19888295}" "" "7545G>T, creates altervative SD, leading to loss 7nts" "homozygous" "Germline" "" "" "0" "" "" "g.18149575G>T" "" "pathogenic" "" "0000367663" "3" "99" "17" "18052889" "18052889" "subst" "0" "02416" "MYO15A_000098" "g.18052889G>T" "0/576 controls" "{PMID:Shahin, Walsh et al., 2010:19888295}" "" "7545G>T, creates altervative SD, leading to loss 7nts" "homozygous" "Germline" "" "" "0" "" "" "g.18149575G>T" "" "pathogenic" "" "0000367664" "3" "99" "17" "18052889" "18052889" "subst" "0" "02416" "MYO15A_000098" "g.18052889G>T" "0/576 controls" "{PMID:Shahin, Walsh et al., 2010:19888295}" "" "7545G>T, creates altervative SD, leading to loss 7nts" "homozygous" "Germline" "" "" "0" "" "" "g.18149575G>T" "" "pathogenic" "" "0000367665" "3" "99" "17" "18052889" "18052889" "subst" "0" "02416" "MYO15A_000098" "g.18052889G>T" "0/576 controls" "{PMID:Shahin, Walsh et al., 2010:19888295}" "" "7545G>T, creates altervative SD, leading to loss 7nts" "homozygous" "Germline" "" "" "0" "" "" "g.18149575G>T" "" "pathogenic" "" "0000367666" "3" "75" "17" "18054082" "18054082" "subst" "0" "02416" "MYO15A_000097" "g.18054082G>A" "0/300 controls" "{PMID:Riahi et al., 2014:24926664}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.18150768G>A" "" "VUS" "ACMG" "0000367667" "3" "55" "17" "18054082" "18054082" "subst" "0" "02416" "MYO15A_000039" "g.18054082G>C" "0/100 controls" "{PMID:Belguith et al., 2009:19309289}" "+TspRI;-HphI" "" "homozygous" "Germline" "" "" "0" "" "" "g.18150768G>C" "" "VUS" "ACMG" "0000367668" "0" "13" "17" "18054222" "18054222" "subst" "0.00915159" "02416" "MYO15A_000055" "g.18054222G>A" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "+AleI;+MslI;-AciI;-FauI;" "" "heterozygous, {MSV3dQ9UKN7:p.Ala2490Thr}" "Germline" "" "rs16960959" "0" "" "" "g.18150908G>A" "" "likely benign" "ACMG" "0000367669" "3" "99" "17" "18055173" "18055173" "subst" "0" "02416" "MYO15A_000101" "g.18055173A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "3898A>T" "homozygous" "Germline" "" "rs121908967" "0" "" "" "g.18151859A>T" "" "pathogenic" "" "0000367670" "3" "99" "17" "18055173" "18055173" "subst" "0" "02416" "MYO15A_000101" "g.18055173A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "3898A>T" "homozygous" "Germline" "" "rs121908967" "0" "" "" "g.18151859A>T" "" "pathogenic" "" "0000367671" "3" "99" "17" "18055173" "18055173" "subst" "0" "02416" "MYO15A_000101" "g.18055173A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "3898A>T" "homozygous" "Germline" "" "rs121908967" "0" "" "" "g.18151859A>T" "" "pathogenic" "" "0000367672" "3" "99" "17" "18055173" "18055173" "subst" "0" "02416" "MYO15A_000101" "g.18055173A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "3898A>T" "homozygous" "Germline" "" "rs121908967" "0" "" "" "g.18151859A>T" "" "pathogenic" "" "0000367673" "3" "99" "17" "18055173" "18055173" "subst" "0" "02416" "MYO15A_000101" "g.18055173A>T" "0/390 controls" "{PMID:Wang et al., 1998:9603736}" "" "3898A>T" "homozygous" "Germline" "" "rs121908967" "0" "" "" "g.18151859A>T" "" "pathogenic" "" "0000367674" "3" "15" "17" "18055229" "18055229" "subst" "0.509169" "02416" "MYO15A_000050" "g.18055229G>A" "" "{PMID:Kalay et al., 2007:17853461}" "none" "exon 40" "homozygous" "Germline" "" "rs854772" "0" "" "" "g.18151915G>A" "" "VUS" "ACMG" "0000367675" "0" "13" "17" "18055440" "18055440" "subst" "0.00121984" "02416" "MYO15A_000057" "g.18055440C>T" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "-BceAI;-BtgI;" "" "Heterozygous" "Germline" "" "rs201535856" "0" "" "" "g.18152126C>T" "" "likely benign" "ACMG" "0000367676" "3" "99" "17" "18057104" "18057104" "subst" "0" "02416" "MYO15A_000034" "g.18057104C>A" "0/200 controls" "{PMID:Duman et al., 2011:21117948}" "+AluI;+CviKI_1;-DpnI;-AsiSI;-Sau3AI;-MboI" "" "homozygous" "Germline" "" "" "0" "" "" "g.18153790C>A" "" "pathogenic" "" "0000367677" "3" "15" "17" "18057215" "18057215" "subst" "0.187504" "02416" "MYO15A_000051" "g.18057215C>G" "" "{PMID:Kalay et al., 2007:17853461}" "+AciI;-NlaIV;-BanI;" "intron 42" "homozygous" "Germline" "" "rs9916193" "0" "" "" "g.18153901C>G" "" "VUS" "ACMG" "0000367678" "3" "95" "17" "18057504" "18057504" "subst" "4.06405E-6" "02416" "MYO15A_000003" "g.18057504G>T" "0/188 controls" "{PMID:Liburd et al., 2001:11735029}" "+NspI;+FatI;+NlaIII;-BspMI;-HphI;-BfuAI;" "8486G>T (AF144094)" "homozygous, {MSV3dQ9UKN7:p.Gln2716His}" "Germline" "" "rs121908969" "0" "" "" "g.18154190G>T" "" "VUS" "ACMG" "0000367679" "3" "95" "17" "18058003" "18058003" "subst" "0" "02416" "MYO15A_000016" "g.18058003G>C" "0/288 controls" "{PMID:Nal et al., 2007:17546645}" "none" "" "homozygous, {MSV3dQ9UKN7:p.Asp2720His}" "Germline" "" "" "0" "" "" "g.18154689G>C" "" "VUS" "ACMG" "0000367680" "3" "95" "17" "18058003" "18058003" "subst" "0" "02416" "MYO15A_000016" "g.18058003G>C" "0/288 controls" "{PMID:Nal et al., 2007:17546645}" "none" "" "homozygous, {MSV3dQ9UKN7:p.Asp2720His}" "Germline" "" "" "0" "" "" "g.18154689G>C" "" "VUS" "ACMG" "0000367681" "3" "95" "17" "18058003" "18058003" "subst" "0" "02416" "MYO15A_000016" "g.18058003G>C" "0/288 controls" "{PMID:Nal et al., 2007:17546645}" "none" "" "homozygous, {MSV3dQ9UKN7:p.Asp2720His}" "Germline" "" "" "0" "" "" "g.18154689G>C" "" "VUS" "ACMG" "0000367682" "3" "95" "17" "18058003" "18058003" "subst" "0" "02416" "MYO15A_000016" "g.18058003G>C" "0/288 controls" "{PMID:Nal et al., 2007:17546645}" "none" "" "homozygous, {MSV3dQ9UKN7:p.Asp2720His}" "Germline" "" "" "0" "" "" "g.18154689G>C" "" "VUS" "ACMG" "0000367683" "11" "75" "17" "18058028" "18058028" "subst" "0.000195284" "02416" "MYO15A_000028" "g.18058028G>A" "0/316 controls" "{PMID:Brownstein et al., 2011:21917145}" "-SfaNI" "" "heterozygous, {MSV3dQ9UKN7:p.Arg2728His}" "Germline" "" "rs184435771" "0" "" "" "g.18154714G>A" "" "VUS" "ACMG" "0000367684" "0" "75" "17" "18058028" "18058028" "subst" "0.000195284" "02416" "MYO15A_000028" "g.18058028G>A" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "heterozygous, {MSV3dQ9UKN7:R2728H}" "Germline" "" "rs184435771" "0" "" "" "g.18154714G>A" "" "VUS" "ACMG" "0000367685" "11" "75" "17" "18058028" "18058028" "subst" "0.000195284" "02416" "MYO15A_000028" "g.18058028G>A" "0/316 controls" "{PMID:Brownstein et al., 2011:21917145}" "-SfaNI" "" "heterozygous, {MSV3dQ9UKN7:p.Arg2728His}" "Germline" "" "rs184435771" "0" "" "" "g.18154714G>A" "" "VUS" "ACMG" "0000367686" "3" "75" "17" "18058067" "18058067" "subst" "0" "02416" "MYO15A_000095" "g.18058067T>C" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "" "" "homozygous, {MSV3dQ9UKN7:p.Phe2741Ser}" "Germline" "" "" "0" "" "" "g.18154753T>C" "" "VUS" "ACMG" "0000367687" "3" "75" "17" "18058067" "18058067" "subst" "0" "02416" "MYO15A_000095" "g.18058067T>C" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "" "" "homozygous, {MSV3dQ9UKN7:p.Phe2741Ser}" "Germline" "" "" "0" "" "" "g.18154753T>C" "" "VUS" "ACMG" "0000367688" "3" "75" "17" "18058067" "18058067" "subst" "0" "02416" "MYO15A_000095" "g.18058067T>C" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "" "" "homozygous, {MSV3dQ9UKN7:p.Phe2741Ser}" "Germline" "" "" "0" "" "" "g.18154753T>C" "" "VUS" "ACMG" "0000367689" "3" "75" "17" "18058067" "18058067" "subst" "0" "02416" "MYO15A_000095" "g.18058067T>C" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "" "" "homozygous, {MSV3dQ9UKN7:p.Phe2741Ser}" "Germline" "" "" "0" "" "" "g.18154753T>C" "" "VUS" "ACMG" "0000367690" "3" "75" "17" "18058067" "18058067" "subst" "0" "02416" "MYO15A_000095" "g.18058067T>C" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "" "" "homozygous, {MSV3dQ9UKN7:p.Phe2741Ser}" "Germline" "" "" "0" "" "" "g.18154753T>C" "" "VUS" "ACMG" "0000367691" "0" "75" "17" "18058523" "18058523" "subst" "0" "02416" "MYO15A_000068" "g.18058523G>A" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Arg2775His}" "Germline" "" "" "0" "" "" "g.18155209G>A" "" "VUS" "ACMG" "0000367692" "3" "95" "17" "18058539" "18058539" "subst" "8.1277E-6" "02393" "MYO15A_000117" "g.18058539G>A" "" "" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.18155225G>A" "" "VUS" "ACMG" "0000367693" "1" "99" "17" "18058662" "18058662" "subst" "4.06398E-6" "02416" "MYO15A_000083" "g.18058662T>C" "0/216 controls" "{PMID:Gao et al,.2013:24206587}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.18155348T>C" "" "pathogenic" "" "0000367694" "0" "99" "17" "18058720" "18058720" "del" "0" "02416" "MYO15A_000114" "g.18058720del" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.18155406del" "" "pathogenic" "" "0000367695" "0" "95" "17" "18058737" "18058737" "subst" "1.63116E-5" "02416" "MYO15A_000103" "g.18058737G>A" "" "{PMID:Gu, Guo et al., 2014:24853665}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Arg2817His}" "Germline" "" "" "0" "" "" "g.18155423G>A" "" "VUS" "ACMG" "0000367696" "3" "95" "17" "18059516" "18059516" "subst" "4.06421E-6" "02421" "MYO15A_000073" "g.18059516G>A" "" "" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.18156202G>A" "" "VUS" "ACMG" "0000367697" "3" "75" "17" "18059516" "18059516" "subst" "4.06421E-6" "02416" "MYO15A_000073" "g.18059516G>A" "2/698 controls" "{PMID:Brownstein et al., 2014:24105371}" "" "" "homozygous, {MSV3dQ9UKN7:p.(Asp2823Asn)}" "Germline" "" "" "0" "" "" "g.18156202G>A" "" "VUS" "ACMG" "0000367698" "3" "99" "17" "18059516" "18059516" "subst" "4.06421E-6" "02416" "MYO15A_000078" "g.18059516G>A" "" "{PMID:Fattahi et al,.2012:22736430}" "" "" "homozygous, {MSV3dQ9UKN7:p.Asp2823Asn}" "Germline" "" "" "0" "" "" "g.18156202G>A" "" "pathogenic" "" "0000367699" "21" "99" "17" "18060373" "18060373" "subst" "1.22046E-5" "02416" "MYO15A_000112" "g.18060373C>T" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "Heterozygous" "Germline" "" "rs768257384" "0" "" "" "g.18157059C>T" "" "pathogenic" "" "0000367700" "0" "99" "17" "18060523" "18060523" "subst" "0" "02416" "MYO15A_000069" "g.18060523C>T" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "" "Heterozygous" "Germline" "" "" "0" "" "" "g.18157209C>T" "" "pathogenic" "" "0000367701" "3" "99" "17" "18060523" "18060523" "subst" "0" "02416" "MYO15A_000069" "g.18060523C>T" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "" "" "homozygous" "Germline" "" "rs373462792" "0" "" "" "g.18157209C>T" "" "pathogenic" "" "0000367702" "3" "99" "17" "18060523" "18060523" "subst" "0" "02416" "MYO15A_000069" "g.18060523C>T" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "" "" "homozygous" "Germline" "" "rs373462792" "0" "" "" "g.18157209C>T" "" "pathogenic" "" "0000367703" "3" "99" "17" "18061068" "18061069" "ins" "0" "02416" "MYO15A_000017" "g.18061068_18061069insTG" "0/171 controls" "{PMID:Nal et al., 2007:17546645}" "+EaeI;-MwoI;-Sau96I" "" "homozygous" "Germline" "" "" "0" "" "" "g.18157754_18157755insTG" "" "pathogenic" "" "0000367704" "3" "95" "17" "18061836" "18061836" "subst" "0" "02416" "MYO15A_000041" "g.18061836G>C" "0/330 controls" "{PMID:Kalay et al., 2007:17853461}" "+HpyCH4III;+BsgI;-PpuMI;-SfcI;-PstI;-EcoO109I;" "intron 50" "homozygous" "Germline" "" "" "0" "" "" "g.18158522G>C" "" "VUS" "ACMG" "0000367705" "3" "95" "17" "18061958" "18061958" "subst" "0" "02393" "MYO15A_000118" "g.18061958T>A" "" "" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.18158644T>A" "" "VUS" "ACMG" "0000367706" "3" "99" "17" "18062662" "18062662" "subst" "0" "02416" "MYO15A_000038" "g.18062662G>T" "0/100 controls" "{PMID:Belguith et al., 2009:19309289}" "-BsaJI;-AvrII;-StyI" "" "homozygous" "Germline" "" "" "0" "" "" "g.18159348G>T" "" "pathogenic" "" "0000367707" "3" "53" "17" "18064722" "18064722" "subst" "0.00685065" "02416" "MYO15A_000018" "g.18064722C>T" "1/266 controls" "{PMID:Nal et al., 2007:17546645}" "+MboII;-MnlI" "" "homozygous, {MSV3dQ9UKN7:p.Leu3160Phe}" "Germline" "" "rs140029076" "0" "" "" "g.18161408C>T" "" "likely benign" "ACMG" "0000367708" "0" "53" "17" "18064722" "18064722" "subst" "0.00685065" "02416" "MYO15A_000018" "g.18064722C>T" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "+MboII;-MnlI" "" "heterozygous, {MSV3dQ9UKN7:p.Leu3160Phe}" "Germline" "" "rs140029076" "0" "" "" "g.18161408C>T" "" "likely benign" "ACMG" "0000367709" "0" "33" "17" "18064722" "18064722" "subst" "0.00685065" "02416" "MYO15A_000018" "g.18064722C>T" "" "{PMID:Ebermann et al., 2010:20440071}" "+MboII;-MnlI" "" "heterozygous, {MSV3dQ9UKN7:p.Leu3160Phe}" "Germline" "" "rs140029076" "0" "" "" "g.18161408C>T" "" "likely benign" "ACMG" "0000367710" "21" "53" "17" "18064722" "18064722" "subst" "0.00685065" "02416" "MYO15A_000018" "g.18064722C>T" "" "{PMID:Miyagawa et al., 2013:24130743}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Leu3160Phe}" "Germline" "" "rs140029076" "0" "" "" "g.18161408C>T" "" "likely benign" "ACMG" "0000367711" "21" "53" "17" "18064722" "18064722" "subst" "0.00685065" "02416" "MYO15A_000018" "g.18064722C>T" "" "{PMID:Miyagawa et al., 2013:24130743}" "" "" "heterozygous, {MSV3dQ9UKN7:p.Leu3160Phe}" "Germline" "" "rs140029076" "0" "" "" "g.18161408C>T" "" "likely benign" "ACMG" "0000367712" "21" "53" "17" "18064722" "18064722" "subst" "0.00685065" "02416" "MYO15A_000018" "g.18064722C>T" "0/144 controls" "{PMID:Miyagawa et al., 2013:23967202}" "+MboII;-MnlI" "" "heterozygous, {MSV3dQ9UKN7:p.Leu3160Phe}" "Germline" "" "rs140029076" "0" "" "" "g.18161408C>T" "" "likely benign" "ACMG" "0000367713" "3" "15" "17" "18064730" "18064730" "subst" "0.169595" "02416" "MYO15A_000052" "g.18064730C>T" "" "{PMID:Kalay et al., 2007:17853461}" "-HpyCH4IV;-BmgBI;" "exon 56" "homozygous" "Germline" "" "rs8077577" "0" "" "" "g.18161416C>T" "" "VUS" "ACMG" "0000367714" "3" "75" "17" "18069835" "18069835" "subst" "4.08063E-6" "02416" "MYO15A_000094" "g.18069835G>A" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "" "Gln3316Gln. Splicing mutation." "homozygous" "Germline" "" "" "0" "" "" "g.18166521G>A" "" "VUS" "ACMG" "0000367715" "3" "75" "17" "18069835" "18069835" "subst" "4.08063E-6" "02416" "MYO15A_000094" "g.18069835G>A" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "" "Gln3316Gln. Splicing mutation." "homozygous" "Germline" "" "" "0" "" "" "g.18166521G>A" "" "VUS" "ACMG" "0000367716" "3" "75" "17" "18069835" "18069835" "subst" "4.08063E-6" "02416" "MYO15A_000094" "g.18069835G>A" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "" "Gln3316Gln. Splicing mutation." "homozygous" "Germline" "" "" "0" "" "" "g.18166521G>A" "" "VUS" "ACMG" "0000367717" "3" "75" "17" "18069835" "18069835" "subst" "4.08063E-6" "02416" "MYO15A_000094" "g.18069835G>A" "0/178 controls" "{PMID:Shafique et al., 2014:24949729}" "" "Gln3316Gln. Splicing mutation." "homozygous" "Germline" "" "" "0" "" "" "g.18166521G>A" "" "VUS" "ACMG" "0000367718" "10" "99" "17" "18070913" "18070916" "del" "0" "02416" "MYO15A_000023" "g.18070913_18070916del" "" "{PMID:Lezirovitz et al., 2008:17851452}" "none" "9957_9960delTGAC" "Heterozygous" "Germline" "" "" "0" "" "" "g.18167599_18167602del" "" "pathogenic" "" "0000367719" "3" "99" "17" "18070950" "18070957" "dup" "0" "02416" "MYO15A_000031" "g.18070950_18070957dup" "0/200 controls" "{PMID:Duman et al., 2011:21117948}" "+NaeI;+Sau96I;+MspI;+CviKI_1;+FauI;+HpaII" "" "homozygous" "Germline" "" "" "0" "" "" "g.18167636_18167643dup" "" "pathogenic" "" "0000367720" "3" "99" "17" "18070950" "18070957" "dup" "0" "02416" "MYO15A_000031" "g.18070950_18070957dup" "0/200 controls" "{PMID:Duman et al., 2011:21117948}" "+NaeI;+Sau96I;+MspI;+CviKI_1;+FauI;+HpaII" "" "homozygous" "Germline" "" "" "0" "" "" "g.18167636_18167643dup" "" "pathogenic" "" "0000367721" "0" "13" "17" "18075051" "18075051" "subst" "0.00699566" "02416" "MYO15A_000062" "g.18075051G>A" "" "{PMID:Besnard, Garcia-Garcia et al., 2014:24498627}" "-BlpI;-HaeII;-HhaI;-HinP1I;" "" "Heterozygous" "Germline" "" "rs200249886" "0" "" "" "g.18171737G>A" "" "likely benign" "ACMG" "0000367722" "0" "13" "17" "18075496" "18075496" "subst" "0.00288841" "02416" "MYO15A_000054" "g.18075496C>T" "" "" "" "" "Heterozygous" "Germline" "" "rs188485743" "0" "" "" "g.18172182C>T" "" "likely benign" "ACMG" "0000367723" "0" "75" "17" "18075512" "18075514" "del" "0" "02416" "MYO15A_000067" "g.18075512_18075514del" "0/400 controls" "{PMID:Yang et al., 2013:23767834}" "" "10251_10253delCTT" "Heterozygous" "Germline" "" "" "0" "" "" "g.18172198_18172200del" "" "VUS" "ACMG" "0000367724" "0" "75" "17" "18075517" "18075517" "subst" "3.24965E-5" "02416" "MYO15A_000107" "g.18075517C>G" "0/144 controls" "{PMID:Miyagawa et al., 2013:23967202}" "" "" "heterozygous, {MSV3dQ9UKN7:p.(Ile3421Met)}" "Germline" "" "" "0" "" "" "g.18172203C>G" "" "VUS" "ACMG" "0000367725" "3" "99" "17" "18077169" "18077169" "subst" "0" "02416" "MYO15A_000110" "g.18077169C>A" "" "{PMID:Baux, Vaché et al., 2017:29196752}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.18173855C>A" "" "pathogenic" "" "0000367726" "3" "99" "17" "18077218" "18077218" "subst" "4.1423E-6" "02416" "MYO15A_000019" "g.18077218C>T" "0/270 controls" "{PMID:Nal et al., 2007:17546645}" "-BbvI;-Fnu4HI;-TseI;-MwoI;-ApeKI;-HpyCH4V" "" "homozygous" "Germline" "" "" "0" "" "" "g.18173904C>T" "" "pathogenic" "" "0000367727" "3" "99" "17" "18082164" "18082164" "del" "0" "02416" "MYO15A_000022" "g.18082164del" "" "{PMID:Lezirovitz et al., 2008:17851452}" "+BstUI;+FauI;+AciI;-BseYI" "10573delA" "homozygous" "Germline" "" "" "0" "" "" "g.18178850del" "" "pathogenic" "" "0000367728" "21" "99" "17" "18082164" "18082164" "del" "0" "02416" "MYO15A_000022" "g.18082164del" "" "{PMID:Lezirovitz et al., 2008:17851452}" "+BstUI;+FauI;+AciI;-BseYI" "10573delA" "Heterozygous" "Germline" "" "" "0" "" "" "g.18178850del" "" "pathogenic" "" "0000367729" "21" "99" "17" "18082164" "18082164" "del" "0" "02416" "MYO15A_000022" "g.18082164del" "" "{PMID:Lezirovitz et al., 2008:17851452}" "+BstUI;+FauI;+AciI;-BseYI" "" "Heterozygous, no 2nd pathogenic variant identified" "Germline" "" "" "0" "" "" "g.18178850del" "" "pathogenic" "" "0000560552" "0" "30" "17" "18022168" "18022168" "subst" "0.00159877" "01943" "MYO15A_000056" "g.18022168G>A" "" "" "" "MYO15A(NM_016239.3):c.54G>A (p.K18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18118854G>A" "" "likely benign" "" "0000560554" "0" "30" "17" "18022495" "18022495" "subst" "0.000130275" "01943" "MYO15A_000242" "g.18022495C>G" "" "" "" "MYO15A(NM_016239.3):c.381C>G (p.L127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18119181C>G" "" "likely benign" "" "0000560555" "0" "50" "17" "18022826" "18022826" "subst" "1.23171E-5" "01943" "MYO15A_000243" "g.18022826T>G" "" "" "" "MYO15A(NM_016239.3):c.712T>G (p.Y238D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18119512T>G" "" "VUS" "" "0000560556" "0" "50" "17" "18022880" "18022880" "subst" "1.24887E-5" "02327" "MYO15A_000244" "g.18022880G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18119566G>A" "" "VUS" "" "0000560557" "0" "50" "17" "18023748" "18023748" "subst" "0.00101573" "01943" "MYO15A_000210" "g.18023748C>T" "" "" "" "MYO15A(NM_016239.3):c.1634C>T (p.A545V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18120434C>T" "" "VUS" "" "0000560558" "0" "10" "17" "18023897" "18023897" "subst" "0.45373" "01943" "MYO15A_000043" "g.18023897G>A" "" "" "" "MYO15A(NM_016239.3):c.1783G>A (p.A595T), MYO15A(NM_016239.4):c.1783G>A (p.A595T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18120583G>A" "" "benign" "" "0000560559" "0" "10" "17" "18023897" "18023897" "subst" "0.45373" "02325" "MYO15A_000043" "g.18023897G>A" "" "" "" "MYO15A(NM_016239.3):c.1783G>A (p.A595T), MYO15A(NM_016239.4):c.1783G>A (p.A595T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18120583G>A" "" "benign" "" "0000560560" "0" "50" "17" "18023981" "18023981" "subst" "0" "01943" "MYO15A_000245" "g.18023981G>A" "" "" "" "MYO15A(NM_016239.3):c.1867G>A (p.G623S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18120667G>A" "" "VUS" "" "0000560561" "0" "30" "17" "18024055" "18024055" "subst" "0.000300612" "01943" "MYO15A_000246" "g.18024055A>C" "" "" "" "MYO15A(NM_016239.3):c.1941A>C (p.P647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18120741A>C" "" "likely benign" "" "0000560562" "0" "30" "17" "18024532" "18024532" "subst" "0.00101888" "01943" "MYO15A_000247" "g.18024532C>T" "" "" "" "MYO15A(NM_016239.3):c.2418C>T (p.F806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121218C>T" "" "likely benign" "" "0000560563" "0" "90" "17" "18024585" "18024585" "del" "0" "02327" "MYO15A_000248" "g.18024585del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121271del" "" "pathogenic" "" "0000560564" "0" "10" "17" "18024794" "18024794" "subst" "0.00148983" "01943" "MYO15A_000249" "g.18024794C>T" "" "" "" "MYO15A(NM_016239.3):c.2680C>T (p.P894S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121480C>T" "" "benign" "" "0000560566" "0" "10" "17" "18025140" "18025140" "subst" "0.00604152" "01943" "MYO15A_000071" "g.18025140C>A" "" "" "" "MYO15A(NM_016239.3):c.3026C>A (p.P1009H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121826C>A" "" "benign" "" "0000560567" "0" "30" "17" "18025253" "18025253" "subst" "4.06303E-6" "01943" "MYO15A_000251" "g.18025253C>T" "" "" "" "MYO15A(NM_016239.3):c.3139C>T (p.P1047S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121939C>T" "" "likely benign" "" "0000560568" "0" "30" "17" "18025473" "18025473" "subst" "0.000158614" "01943" "MYO15A_000252" "g.18025473G>A" "" "" "" "MYO15A(NM_016239.3):c.3359G>A (p.R1120H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18122159G>A" "" "likely benign" "" "0000560570" "0" "10" "17" "18028545" "18028545" "subst" "0.00140156" "01943" "MYO15A_000254" "g.18028545C>T" "" "" "" "MYO15A(NM_016239.3):c.3756C>T (p.Y1252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18125231C>T" "" "benign" "" "0000560572" "0" "30" "17" "18034119" "18034119" "subst" "0.00151356" "02327" "MYO15A_000255" "g.18034119A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18130805A>T" "" "likely benign" "" "0000560573" "0" "30" "17" "18034176" "18034185" "del" "0" "01804" "MYO15A_000256" "g.18034176_18034185del" "" "" "" "MYO15A(NM_016239.3):c.4038+8_4038+17del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18130862_18130871del" "" "likely benign" "" "0000560575" "0" "30" "17" "18034178" "18034185" "dup" "0" "01943" "MYO15A_000258" "g.18034178_18034185dup" "" "" "" "MYO15A(NM_016239.3):c.4038+48_4038+55dupGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18130864_18130871dup" "" "likely benign" "" "0000560576" "0" "30" "17" "18034180" "18034185" "del" "0" "01804" "MYO15A_000259" "g.18034180_18034185del" "" "" "" "MYO15A(NM_016239.3):c.4038+10_4038+15del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18130866_18130871del" "" "likely benign" "" "0000560577" "0" "10" "17" "18034180" "18034185" "dup" "0" "01943" "MYO15A_000260" "g.18034180_18034185dup" "" "" "" "MYO15A(NM_016239.3):c.4038+52_4038+57dupGTGTGT, MYO15A(NM_016239.3):c.4038+56_4038+61dupGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18130866_18130871dup" "" "benign" "" "0000560578" "0" "30" "17" "18034182" "18034185" "del" "0" "01804" "MYO15A_000261" "g.18034182_18034185del" "" "" "" "MYO15A(NM_016239.3):c.4038+12_4038+15del (p.(=)), MYO15A(NM_016239.3):c.4038+58_4038+61delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18130868_18130871del" "" "likely benign" "" "0000560579" "0" "30" "17" "18034182" "18034185" "dup" "0" "01943" "MYO15A_000262" "g.18034182_18034185dup" "" "" "" "MYO15A(NM_016239.3):c.4038+56_4038+59dupGTGT, MYO15A(NM_016239.3):c.4038+58_4038+61dupGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18130868_18130871dup" "" "likely benign" "" "0000560581" "0" "50" "17" "18035821" "18035821" "subst" "0" "01943" "MYO15A_000264" "g.18035821G>A" "" "" "" "MYO15A(NM_016239.3):c.4261G>A (p.A1421T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18132507G>A" "" "VUS" "" "0000560582" "0" "90" "17" "18036537" "18036537" "subst" "0" "02327" "MYO15A_000265" "g.18036537A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18133223A>T" "" "pathogenic" "" "0000560583" "0" "50" "17" "18036642" "18036642" "subst" "0.000308787" "01943" "MYO15A_000266" "g.18036642T>C" "" "" "" "MYO15A(NM_016239.3):c.4424T>C (p.I1475T), MYO15A(NM_016239.4):c.4424T>C (p.(Ile1475Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18133328T>C" "" "VUS" "" "0000560584" "0" "50" "17" "18039881" "18039881" "subst" "6.91529E-5" "01943" "MYO15A_000267" "g.18039881G>A" "" "" "" "MYO15A(NM_016239.3):c.4660G>A (p.A1554T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18136567G>A" "" "VUS" "" "0000560585" "0" "50" "17" "18039998" "18039998" "subst" "7.08617E-5" "02327" "MYO15A_000109" "g.18039998G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18136684G>A" "" "VUS" "" "0000560586" "0" "50" "17" "18041441" "18041441" "subst" "0.000720072" "01943" "MYO15A_000268" "g.18041441C>T" "" "" "" "MYO15A(NM_016239.3):c.4888C>T (p.R1630C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18138127C>T" "" "VUS" "" "0000560587" "0" "90" "17" "18041561" "18041561" "subst" "0" "01943" "MYO15A_000136" "g.18041561G>C" "" "" "" "MYO15A(NM_016239.3):c.5007+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18138247G>C" "" "pathogenic" "" "0000560588" "0" "30" "17" "18043900" "18043900" "subst" "1.62587E-5" "01943" "MYO15A_000269" "g.18043900G>A" "" "" "" "MYO15A(NM_016239.3):c.5281G>A (p.V1761I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18140586G>A" "" "likely benign" "" "0000560589" "0" "50" "17" "18043906" "18043906" "subst" "0.00180046" "01943" "MYO15A_000129" "g.18043906C>T" "" "" "" "MYO15A(NM_016239.3):c.5287C>T (p.R1763W), MYO15A(NM_016239.4):c.5287C>T (p.R1763W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18140592C>T" "" "VUS" "" "0000560590" "0" "30" "17" "18043982" "18043982" "subst" "4.06299E-6" "01943" "MYO15A_000270" "g.18043982G>C" "" "" "" "MYO15A(NM_016239.3):c.5360+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18140668G>C" "" "likely benign" "" "0000560591" "0" "70" "17" "18044343" "18044343" "subst" "0" "01943" "MYO15A_000096" "g.18044343T>C" "" "" "" "MYO15A(NM_016239.3):c.5417T>C (p.L1806P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18141029T>C" "" "likely pathogenic" "" "0000560592" "0" "90" "17" "18044441" "18044441" "subst" "4.88099E-5" "02327" "MYO15A_000271" "g.18044441C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18141127C>T" "" "pathogenic" "" "0000560593" "0" "50" "17" "18046125" "18046125" "subst" "0" "01943" "MYO15A_000272" "g.18046125G>A" "" "" "" "MYO15A(NM_016239.3):c.5881G>A (p.A1961T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18142811G>A" "" "VUS" "" "0000560594" "0" "90" "17" "18046140" "18046140" "subst" "0" "02327" "MYO15A_000273" "g.18046140C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18142826C>T" "" "pathogenic" "" "0000560595" "0" "90" "17" "18046894" "18046894" "subst" "0.0020308" "02327" "MYO15A_000075" "g.18046894G>A" "" "" "" "MYO15A(NM_016239.3):c.5925G>A (p.W1975*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18143580G>A" "" "pathogenic" "" "0000560596" "0" "50" "17" "18046938" "18046938" "del" "0" "01943" "MYO15A_000274" "g.18046938del" "" "" "" "MYO15A(NM_016239.3):c.5964+5delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18143624del" "" "VUS" "" "0000560597" "0" "30" "17" "18047097" "18047097" "subst" "1.02594E-5" "01943" "MYO15A_000275" "g.18047097G>A" "" "" "" "MYO15A(NM_016239.3):c.6033G>A (p.L2011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18143783G>A" "" "likely benign" "" "0000560598" "0" "30" "17" "18047249" "18047249" "subst" "0.000429052" "01943" "MYO15A_000276" "g.18047249C>T" "" "" "" "MYO15A(NM_016239.3):c.6112C>T (p.R2038C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18143935C>T" "" "likely benign" "" "0000560599" "0" "30" "17" "18047819" "18047819" "subst" "0.00146381" "01943" "MYO15A_000277" "g.18047819C>A" "" "" "" "MYO15A(NM_016239.3):c.6186C>A (p.A2062=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18144505C>A" "" "likely benign" "" "0000560600" "0" "50" "17" "18049310" "18049310" "subst" "8.13273E-6" "02327" "MYO15A_000278" "g.18049310A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18145996A>G" "" "VUS" "" "0000560601" "0" "50" "17" "18051816" "18051816" "subst" "1.32594E-5" "02327" "MYO15A_000279" "g.18051816A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18148502A>G" "" "VUS" "" "0000560602" "0" "50" "17" "18051840" "18051840" "subst" "0" "02327" "MYO15A_000280" "g.18051840G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18148526G>C" "" "VUS" "" "0000560604" "0" "70" "17" "18054609" "18054609" "subst" "4.06167E-6" "01943" "MYO15A_000281" "g.18054609G>A" "" "" "" "MYO15A(NM_016239.3):c.7654+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18151295G>A" "" "likely pathogenic" "" "0000560605" "0" "50" "17" "18055163" "18055163" "subst" "0" "01943" "MYO15A_000282" "g.18055163G>A" "" "" "" "MYO15A(NM_016239.3):c.7791G>A (p.K2597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18151849G>A" "" "VUS" "" "0000560606" "0" "50" "17" "18057106" "18057106" "subst" "0.000578152" "01943" "MYO15A_000283" "g.18057106C>G" "" "" "" "MYO15A(NM_016239.3):c.7984C>G (p.L2662V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18153792C>G" "" "VUS" "" "0000560607" "0" "70" "17" "18057446" "18057446" "subst" "0.000264054" "02327" "MYO15A_000193" "g.18057446T>C" "" "" "" "MYO15A(NM_016239.3):c.8090T>C (p.V2697A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18154132T>C" "" "likely pathogenic" "" "0000560608" "0" "90" "17" "18058505" "18058505" "subst" "0" "01943" "MYO15A_000284" "g.18058505G>A" "" "" "" "MYO15A(NM_016239.3):c.8306G>A (p.W2769*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18155191G>A" "" "pathogenic" "" "0000560609" "0" "50" "17" "18060374" "18060374" "subst" "0.000252246" "01943" "MYO15A_000285" "g.18060374G>A" "" "" "" "MYO15A(NM_016239.3):c.8708G>A (p.R2903Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18157060G>A" "" "VUS" "" "0000560610" "0" "90" "17" "18060523" "18060523" "subst" "0" "02327" "MYO15A_000069" "g.18060523C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18157209C>T" "" "pathogenic" "" "0000560611" "0" "30" "17" "18061109" "18061109" "subst" "2.5968E-5" "01943" "MYO15A_000286" "g.18061109C>G" "" "" "" "MYO15A(NM_016239.3):c.8862C>G (p.P2954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18157795C>G" "" "likely benign" "" "0000560612" "0" "50" "17" "18061158" "18061158" "subst" "0" "01943" "MYO15A_000287" "g.18061158G>A" "" "" "" "MYO15A(NM_016239.3):c.8911G>A (p.V2971M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18157844G>A" "" "VUS" "" "0000560613" "0" "50" "17" "18062622" "18062622" "subst" "0.000125905" "01943" "MYO15A_000288" "g.18062622G>C" "" "" "" "MYO15A(NM_016239.3):c.9190G>C (p.D3064H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18159308G>C" "" "VUS" "" "0000560614" "0" "50" "17" "18064652" "18064652" "subst" "2.43859E-5" "01943" "MYO15A_000289" "g.18064652G>C" "" "" "" "MYO15A(NM_016239.3):c.9408G>C (p.W3136C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18161338G>C" "" "VUS" "" "0000560615" "0" "70" "17" "18065953" "18065953" "subst" "4.06616E-5" "02327" "MYO15A_000290" "g.18065953G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18162639G>A" "" "likely pathogenic" "" "0000560616" "0" "50" "17" "18069800" "18069800" "subst" "0.000138237" "01943" "MYO15A_000291" "g.18069800G>A" "" "" "" "MYO15A(NM_016239.3):c.9913G>A (p.E3305K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18166486G>A" "" "VUS" "" "0000560617" "0" "50" "17" "18070952" "18070952" "subst" "4.2027E-5" "01943" "MYO15A_000292" "g.18070952C>T" "" "" "" "MYO15A(NM_016239.3):c.9997C>T (p.R3333W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18167638C>T" "" "VUS" "" "0000560618" "0" "90" "17" "18071038" "18071038" "subst" "1.26616E-5" "01943" "MYO15A_000237" "g.18071038G>A" "" "" "" "MYO15A(NM_016239.3):c.10082+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18167724G>A" "" "pathogenic" "" "0000560619" "0" "30" "17" "18074990" "18074990" "subst" "0.000142344" "01943" "MYO15A_000293" "g.18074990G>A" "" "" "" "MYO15A(NM_016239.3):c.10121G>A (p.R3374H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18171676G>A" "" "likely benign" "" "0000560620" "0" "50" "17" "18075070" "18075070" "subst" "5.81772E-5" "02327" "MYO15A_000294" "g.18075070C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18171756C>T" "" "VUS" "" "0000560621" "0" "50" "17" "18075086" "18075086" "subst" "0" "01943" "MYO15A_000239" "g.18075086G>A" "" "" "" "MYO15A(NM_016239.3):c.10216+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18171772G>A" "" "VUS" "" "0000560622" "0" "30" "17" "18075656" "18075656" "subst" "0" "02327" "MYO15A_000295" "g.18075656C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18172342C>G" "" "likely benign" "" "0000560623" "0" "50" "17" "18077164" "18077164" "subst" "0.000482507" "01943" "MYO15A_000296" "g.18077164A>G" "" "" "" "MYO15A(NM_016239.3):c.10420A>G (p.S3474G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18173850A>G" "" "VUS" "" "0000616387" "0" "50" "17" "18022779" "18022779" "subst" "0" "01943" "MYO15A_000298" "g.18022779C>G" "" "" "" "MYO15A(NM_016239.3):c.665C>G (p.S222W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18119465C>G" "" "VUS" "" "0000616388" "0" "50" "17" "18022937" "18022937" "subst" "0.00148733" "01943" "MYO15A_000299" "g.18022937G>C" "" "" "" "MYO15A(NM_016239.3):c.823G>C (p.G275R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18119623G>C" "" "VUS" "" "0000616389" "0" "50" "17" "18023380" "18023380" "subst" "0" "01943" "MYO15A_000300" "g.18023380C>A" "" "" "" "MYO15A(NM_016239.3):c.1266C>A (p.H422Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18120066C>A" "" "VUS" "" "0000616390" "0" "50" "17" "18023835" "18023835" "subst" "1.01866E-5" "01943" "MYO15A_000301" "g.18023835G>C" "" "" "" "MYO15A(NM_016239.3):c.1721G>C (p.R574P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18120521G>C" "" "VUS" "" "0000616391" "0" "50" "17" "18024329" "18024329" "subst" "0" "01943" "MYO15A_000302" "g.18024329C>G" "" "" "" "MYO15A(NM_016239.3):c.2215C>G (p.P739A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121015C>G" "" "VUS" "" "0000616392" "0" "50" "17" "18024711" "18024711" "subst" "0" "01943" "MYO15A_000303" "g.18024711C>G" "" "" "" "MYO15A(NM_016239.3):c.2597C>G (p.S866W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121397C>G" "" "VUS" "" "0000616393" "0" "30" "17" "18024756" "18024756" "subst" "5.23325E-5" "01943" "MYO15A_000304" "g.18024756G>A" "" "" "" "MYO15A(NM_016239.3):c.2642G>A (p.R881Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121442G>A" "" "likely benign" "" "0000616394" "0" "10" "17" "18024904" "18024904" "subst" "0.00115718" "01943" "MYO15A_000305" "g.18024904C>T" "" "" "" "MYO15A(NM_016239.3):c.2790C>T (p.D930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121590C>T" "" "benign" "" "0000616395" "0" "30" "17" "18024920" "18024920" "subst" "0" "01943" "MYO15A_000250" "g.18024920A>C" "" "" "" "MYO15A(NM_016239.3):c.2806A>C (p.T936P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121606A>C" "" "likely benign" "" "0000616396" "0" "50" "17" "18024924" "18024924" "subst" "0" "01943" "MYO15A_000306" "g.18024924A>C" "" "" "" "MYO15A(NM_016239.3):c.2810A>C (p.Q937P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121610A>C" "" "VUS" "" "0000616397" "0" "50" "17" "18024927" "18024927" "subst" "0" "01943" "MYO15A_000307" "g.18024927G>C" "" "" "" "MYO15A(NM_016239.3):c.2813G>C (p.R938P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121613G>C" "" "VUS" "" "0000616398" "0" "30" "17" "18024931" "18024931" "subst" "0" "01943" "MYO15A_000308" "g.18024931A>C" "" "" "" "MYO15A(NM_016239.3):c.2817A>C (p.P939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18121617A>C" "" "likely benign" "" "0000616399" "0" "30" "17" "18029678" "18029678" "subst" "0.00238198" "01943" "MYO15A_000309" "g.18029678C>T" "" "" "" "MYO15A(NM_016239.3):c.3774C>T (p.I1258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18126364C>T" "" "likely benign" "" "0000616400" "0" "10" "17" "18034184" "18034185" "del" "0" "01943" "MYO15A_000263" "g.18034184_18034185del" "" "" "" "MYO15A(NM_016239.3):c.4038+60_4038+61delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18130870_18130871del" "" "benign" "" "0000616401" "0" "10" "17" "18034184" "18034185" "dup" "0" "01943" "MYO15A_000310" "g.18034184_18034185dup" "" "" "" "MYO15A(NM_016239.3):c.4038+60_4038+61dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18130870_18130871dup" "" "benign" "" "0000616402" "0" "50" "17" "18034610" "18034612" "del" "0" "02327" "MYO15A_000311" "g.18034610_18034612del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18131296_18131298del" "" "VUS" "" "0000616403" "0" "30" "17" "18039090" "18039090" "subst" "0" "01943" "MYO15A_000312" "g.18039090G>A" "" "" "" "MYO15A(NM_016239.3):c.4548G>A (p.L1516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18135776G>A" "" "likely benign" "" "0000616404" "0" "50" "17" "18045497" "18045497" "subst" "0.0019546" "01943" "MYO15A_000313" "g.18045497T>G" "" "" "" "MYO15A(NM_016239.3):c.5754T>G (p.I1918M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18142183T>G" "" "VUS" "" "0000616405" "0" "50" "17" "18046889" "18046889" "subst" "0" "01943" "MYO15A_000314" "g.18046889G>C" "" "" "" "MYO15A(NM_016239.3):c.5920G>C (p.E1974Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18143575G>C" "" "VUS" "" "0000616406" "0" "50" "17" "18051393" "18051393" "subst" "7.32893E-5" "01943" "MYO15A_000315" "g.18051393G>A" "" "" "" "MYO15A(NM_016239.3):c.6560G>A (p.R2187H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18148079G>A" "" "VUS" "" "0000616407" "0" "50" "17" "18051413" "18051413" "subst" "0.000138293" "01943" "MYO15A_000133" "g.18051413C>T" "" "" "" "MYO15A(NM_016239.3):c.6580C>T (p.R2194W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18148099C>T" "" "VUS" "" "0000616408" "0" "30" "17" "18051466" "18051466" "subst" "4.06755E-6" "01943" "MYO15A_000316" "g.18051466C>T" "" "" "" "MYO15A(NM_016239.3):c.6633C>T (p.L2211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18148152C>T" "" "likely benign" "" "0000616409" "0" "90" "17" "18051884" "18051884" "subst" "2.00862E-5" "01943" "MYO15A_000127" "g.18051884T>A" "" "" "" "MYO15A(NM_016239.3):c.6764+2T>A, MYO15A(NM_016239.4):c.6764+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18148570T>A" "" "pathogenic" "" "0000616410" "0" "70" "17" "18052097" "18052097" "subst" "3.13014E-5" "01943" "MYO15A_000146" "g.18052097G>A" "" "" "" "MYO15A(NM_016239.3):c.6787G>A (p.G2263S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18148783G>A" "" "likely pathogenic" "" "0000616411" "0" "30" "17" "18052540" "18052540" "subst" "2.84442E-5" "01943" "MYO15A_000317" "g.18052540A>G" "" "" "" "MYO15A(NM_016239.3):c.6967A>G (p.N2323D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18149226A>G" "" "likely benign" "" "0000616412" "0" "90" "17" "18052806" "18052809" "del" "0" "02327" "MYO15A_000091" "g.18052806_18052809del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18149492_18149495del" "" "pathogenic" "" "0000616413" "0" "50" "17" "18055245" "18055245" "subst" "0" "01943" "MYO15A_000318" "g.18055245G>A" "" "" "" "MYO15A(NM_016239.3):c.7873G>A (p.A2625T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18151931G>A" "" "VUS" "" "0000616414" "0" "30" "17" "18055271" "18055271" "subst" "5.22644E-5" "01943" "MYO15A_000319" "g.18055271G>T" "" "" "" "MYO15A(NM_016239.3):c.7893+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18151957G>T" "" "likely benign" "" "0000616415" "0" "50" "17" "18057169" "18057169" "subst" "4.06732E-6" "01943" "MYO15A_000320" "g.18057169G>A" "" "" "" "MYO15A(NM_016239.3):c.8047G>A (p.G2683S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18153855G>A" "" "VUS" "" "0000616417" "0" "30" "17" "18064680" "18064680" "subst" "8.93706E-5" "01943" "MYO15A_000323" "g.18064680C>T" "" "" "" "MYO15A(NM_016239.3):c.9436C>T (p.H3146Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18161366C>T" "" "likely benign" "" "0000616418" "0" "30" "17" "18069808" "18069808" "subst" "0" "01943" "MYO15A_000324" "g.18069808G>A" "" "" "" "MYO15A(NM_016239.3):c.9921G>A (p.E3307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18166494G>A" "" "likely benign" "" "0000616419" "0" "30" "17" "18070953" "18070953" "subst" "0.000289901" "01943" "MYO15A_000325" "g.18070953G>A" "" "" "" "MYO15A(NM_016239.3):c.9998G>A (p.R3333Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18167639G>A" "" "likely benign" "" "0000623634" "0" "50" "17" "18062592" "18062592" "subst" "5.27966E-5" "01943" "MYO15A_000322" "g.18062592C>G" "" "" "" "MYO15A(NM_016239.3):c.9160C>G (p.P3054A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18159278C>G" "" "VUS" "" "0000649509" "1" "30" "17" "18022823" "18022823" "subst" "0.000258655" "03575" "MYO15A_000326" "g.18022823G>A" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201737186}" "Germline" "" "rs201737186" "0" "" "" "g.18119509G>A" "" "likely benign" "" "0000649510" "1" "10" "17" "18025140" "18025140" "subst" "0.00604152" "03575" "MYO15A_000071" "g.18025140C>A" "15/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs117612144}" "Germline" "" "rs117612144" "0" "" "" "g.18121826C>A" "" "benign" "" "0000649511" "1" "30" "17" "18051447" "18051447" "subst" "0.00441715" "03575" "MYO15A_000020" "g.18051447C>T" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous; {DB:CLININrs121908970}" "Germline" "" "rs121908970" "0" "" "" "g.18148133C>T" "" "likely benign" "" "0000649512" "1" "50" "17" "18054453" "18054453" "subst" "0.0281357" "03575" "MYO15A_000229" "g.18054453G>A" "25/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 25 heterozygous, no homozygous; {DB:CLININrs16960961}" "Germline" "" "rs16960961" "0" "" "" "g.18151139G>A" "" "VUS" "" "0000649513" "1" "90" "17" "18055266" "18055266" "subst" "1.92411E-5" "03575" "MYO15A_000134" "g.18055266G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs727503316}" "Germline" "" "rs727503316" "0" "" "" "g.18151952G>A" "" "pathogenic" "" "0000659647" "0" "70" "17" "18044430" "18044430" "subst" "1.62658E-5" "03607" "MYO15A_000327" "g.18044430G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.18141116G>A" "" "VUS" "" "0000669386" "3" "30" "17" "18051447" "18051447" "subst" "0.00441715" "03575" "MYO15A_000020" "g.18051447C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs121908970}" "Germline" "" "rs121908970" "0" "" "" "g.18148133C>T" "" "likely benign" "" "0000680800" "0" "90" "17" "18023251" "18023251" "del" "0" "01943" "MYO15A_000090" "g.18023251del" "" "" "" "MYO15A(NM_016239.3):c.1137delC (p.Y380Mfs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680801" "0" "30" "17" "18023959" "18023959" "subst" "9.68945E-6" "01943" "MYO15A_000328" "g.18023959T>C" "" "" "" "MYO15A(NM_016239.3):c.1845T>C (p.A615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680802" "0" "30" "17" "18030147" "18030147" "subst" "9.74611E-5" "01943" "MYO15A_000329" "g.18030147C>T" "" "" "" "MYO15A(NM_016239.3):c.3909C>T (p.L1303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680803" "0" "90" "17" "18045426" "18045426" "subst" "0" "01943" "MYO15A_000330" "g.18045426G>T" "" "" "" "MYO15A(NM_016239.3):c.5683G>T (p.E1895*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680804" "0" "50" "17" "18054142" "18054142" "subst" "0.000164164" "01943" "MYO15A_000331" "g.18054142C>G" "" "" "" "MYO15A(NM_016239.3):c.7396-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680805" "0" "50" "17" "18067149" "18067149" "subst" "0" "01943" "MYO15A_000332" "g.18067149C>T" "" "" "" "MYO15A(NM_016239.3):c.9784C>T (p.R3262C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680806" "0" "50" "17" "18075491" "18075491" "subst" "4.06213E-6" "01943" "MYO15A_000333" "g.18075491A>G" "" "" "" "MYO15A(NM_016239.3):c.10237A>G (p.M3413V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692277" "0" "50" "17" "18023438" "18023438" "subst" "0" "01943" "MYO15A_000334" "g.18023438G>A" "" "" "" "MYO15A(NM_016239.3):c.1324G>A (p.G442S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692278" "0" "30" "17" "18024649" "18024649" "subst" "0" "01943" "MYO15A_000335" "g.18024649G>A" "" "" "" "MYO15A(NM_016239.3):c.2535G>A (p.R845=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692279" "0" "50" "17" "18024689" "18024689" "subst" "0" "01943" "MYO15A_000336" "g.18024689C>T" "" "" "" "MYO15A(NM_016239.3):c.2575C>T (p.R859C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692280" "0" "30" "17" "18027844" "18027844" "subst" "0" "01943" "MYO15A_000337" "g.18027844C>T" "" "" "" "MYO15A(NM_016239.3):c.3657C>T (p.H1219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692281" "0" "30" "17" "18054230" "18054230" "subst" "0" "01943" "MYO15A_000338" "g.18054230G>A" "" "" "" "MYO15A(NM_016239.3):c.7473+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692282" "0" "50" "17" "18057172" "18057172" "subst" "6.50666E-5" "01943" "MYO15A_000339" "g.18057172T>C" "" "" "" "MYO15A(NM_016239.3):c.8050T>C (p.Y2684H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692283" "0" "50" "17" "18077201" "18077201" "subst" "2.47723E-5" "01943" "MYO15A_000340" "g.18077201C>T" "" "" "" "MYO15A(NM_016239.3):c.10457C>T (p.A3486V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000696948" "0" "50" "17" "18024278" "18024278" "subst" "0" "03779" "MYO15A_000341" "g.18024278G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000711877" "0" "70" "17" "18057503" "18057503" "subst" "4.06385E-6" "03779" "MYO15A_000342" "g.18057503A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs756607995" "0" "" "" "" "" "likely pathogenic" "" "0000712218" "0" "50" "17" "18039756" "18039756" "subst" "0" "03611" "MYO15A_000343" "g.18039756C>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712222" "0" "50" "17" "18025716" "18025716" "subst" "1.65737E-5" "03611" "MYO15A_000344" "g.18025716G>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712223" "0" "50" "17" "18075499" "18075499" "del" "0" "03611" "MYO15A_000345" "g.18075499del" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712232" "0" "50" "17" "18023299" "18023299" "dup" "0" "03611" "MYO15A_000030" "g.18023299dup" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "1185dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.18119985dup" "" "pathogenic (recessive)" "ACMG" "0000712243" "0" "50" "17" "18057205" "18057205" "del" "0" "03611" "MYO15A_000347" "g.18057205delAA" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000712261" "0" "50" "17" "18023299" "18023299" "dup" "0" "03611" "MYO15A_000030" "g.18023299dup" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "1185dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.18119985dup" "" "pathogenic (recessive)" "ACMG" "0000712271" "0" "50" "17" "18052868" "18052868" "subst" "0" "03611" "MYO15A_000348" "g.18052868G>C" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712272" "0" "50" "17" "18075498" "18075498" "subst" "0" "03611" "MYO15A_000348" "g.18075498G>C" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712273" "0" "50" "17" "18052868" "18052868" "del" "0" "03611" "MYO15A_000349" "g.18052868delCCT" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712274" "0" "50" "17" "18075498" "18075498" "del" "0" "03611" "MYO15A_000349" "g.18075498delCCT" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712275" "0" "50" "17" "18058495" "18058495" "subst" "0" "03611" "MYO15A_000350" "g.18058495C>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712276" "0" "50" "17" "18061936" "18061936" "subst" "0" "03611" "MYO15A_000350" "g.18061936C>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712277" "0" "50" "17" "18058495" "18058495" "subst" "8.13028E-6" "03611" "MYO15A_000351" "g.18058495C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712278" "0" "50" "17" "18061936" "18061936" "subst" "1.62454E-5" "03611" "MYO15A_000351" "g.18061936C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712284" "0" "50" "17" "18041508" "18041508" "subst" "0" "03611" "MYO15A_000352" "g.18041508T>A" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712304" "0" "50" "17" "18062917" "18062917" "subst" "0" "03611" "MYO15A_000356" "g.18062917C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712328" "0" "50" "17" "18023014" "18023014" "del" "0" "03611" "MYO15A_000355" "g.18023014delT" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000712541" "0" "50" "17" "8028550" "8028550" "subst" "0" "03611" "MYO15A_000354" "g.8028550G>C" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712542" "0" "50" "17" "8028550" "8028550" "subst" "0" "03611" "MYO15A_000354" "g.8028550G>C" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000712543" "0" "50" "17" "18041427" "18041427" "subst" "0" "03611" "MYO15A_000353" "g.18041427A>G" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000726223" "0" "30" "17" "18039795" "18039795" "subst" "8.13789E-6" "01943" "MYO15A_000359" "g.18039795G>A" "" "" "" "MYO15A(NM_016239.3):c.4655+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726224" "0" "90" "17" "18041483" "18041483" "subst" "0" "02327" "MYO15A_000360" "g.18041483C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726225" "0" "50" "17" "18042255" "18042255" "subst" "0" "02327" "MYO15A_000361" "g.18042255G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726226" "0" "90" "17" "18052101" "18052101" "subst" "0" "01943" "MYO15A_000363" "g.18052101G>A" "" "" "" "MYO15A(NM_016239.3):c.6791G>A (p.W2264*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726227" "0" "50" "17" "18052157" "18052157" "subst" "4.73025E-5" "02327" "MYO15A_000364" "g.18052157G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726228" "0" "50" "17" "18052173" "18052173" "subst" "0" "02327" "MYO15A_000365" "g.18052173C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726229" "0" "90" "17" "18055266" "18055266" "subst" "1.92411E-5" "01943" "MYO15A_000134" "g.18055266G>A" "" "" "" "MYO15A(NM_016239.3):c.7893+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726230" "0" "90" "17" "18057993" "18057993" "subst" "0" "01943" "MYO15A_000367" "g.18057993G>A" "" "" "" "MYO15A(NM_016239.3):c.8149-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726231" "0" "30" "17" "18061196" "18061196" "subst" "0" "01943" "MYO15A_000368" "g.18061196G>A" "" "" "" "MYO15A(NM_016239.3):c.8949G>A (p.E2983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726232" "0" "50" "17" "18066565" "18066565" "subst" "3.65494E-5" "02327" "MYO15A_000370" "g.18066565G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729801" "3" "90" "17" "18052202" "18052202" "subst" "0" "00000" "MYO15A_000225" "g.18052202C>T" "" "{PMID:Chen 2018:29692870}" "" "" "" "Germline" "" "" "0" "" "" "g.18148888C>T" "" "pathogenic (recessive)" "" "0000729802" "1" "90" "17" "18064758" "18064758" "subst" "0" "00000" "MYO15A_000369" "g.18064758C>T" "" "{PMID:Chen 2018:29692870}" "" "" "" "Germline" "" "" "0" "" "" "g.18161444C>T" "" "pathogenic (recessive)" "" "0000729803" "3" "90" "17" "18064758" "18064758" "subst" "0" "00000" "MYO15A_000369" "g.18064758C>T" "" "{PMID:Chen 2018:29692870}" "" "" "" "Germline" "" "" "0" "" "" "g.18161444C>T" "" "pathogenic (recessive)" "" "0000729809" "2" "90" "17" "18055426" "18055426" "subst" "6.70502E-6" "00000" "MYO15A_000366" "g.18055426G>T" "" "{PMID:Chen 2018:29692870}" "" "" "" "Germline" "" "" "0" "" "" "g.18152112G>T" "" "pathogenic (recessive)" "" "0000730237" "1" "90" "17" "18023242" "18023242" "subst" "0" "00000" "MYO15A_000358" "g.18023242C>A" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.18119928C>A" "" "pathogenic" "ACMG" "0000730297" "2" "90" "17" "18047315" "18047315" "subst" "0" "00000" "MYO15A_000362" "g.18047315G>T" "" "{PMID:Sun 2018:29625443}" "" "" "" "Germline" "" "" "0" "" "" "g.18144001G>T" "" "pathogenic" "ACMG" "0000734597" "0" "50" "17" "18045567" "18045567" "subst" "0" "03779" "MYO15A_000371" "g.18045567A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000760960" "0" "30" "17" "18024134" "18024134" "subst" "0.00720046" "03779" "MYO15A_000372" "g.18024134C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs557225435" "0" "" "" "" "" "likely benign" "" "0000783983" "3" "90" "17" "18066636" "18066636" "subst" "0" "00006" "MYO15A_000373" "g.18066636G>A" "" "{PMID:Chen 2015:26011067}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785448" "0" "50" "17" "18058514" "18058514" "subst" "4.06577E-6" "03779" "MYO15A_000374" "g.18058514A>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs892416685" "0" "" "" "" "" "VUS" "" "0000789909" "0" "50" "17" "18039100" "18039100" "subst" "0" "02551" "MYO15A_000375" "g.18039100C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000791288" "0" "70" "17" "18075512" "18075514" "del" "0" "03779" "MYO15A_000067" "g.18075512_18075514del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1174503300" "0" "" "" "" "" "likely pathogenic" "" "0000795481" "21" "70" "17" "18023729" "18023729" "subst" "0" "04006" "MYO15A_000376" "g.18023729C>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "in compound heterozygosis with c.3524_3525insA" "De novo" "yes" "" "" "" "" "" "{CV-SCV:001792219}" "pathogenic (recessive)" "ACMG" "0000795482" "11" "70" "17" "18025638" "18025638" "dup" "0" "04006" "MYO15A_000377" "g.18025638dup" "" "{PMID:Batissoco 2021:34599368}" "" "3524_3525insA" "in compund heterozygosis with c.1615C>T" "Germline" "yes" "" "0" "" "" "g.18122324dup" "{CV-SCV:001792220}" "pathogenic (recessive)" "ACMG" "0000807838" "0" "30" "17" "18023568" "18023568" "subst" "0.00100895" "01943" "MYO15A_000208" "g.18023568T>C" "" "" "" "MYO15A(NM_016239.3):c.1454T>C (p.V485A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807839" "0" "30" "17" "18024134" "18024134" "subst" "0.00720046" "01943" "MYO15A_000372" "g.18024134C>T" "" "" "" "MYO15A(NM_016239.3):c.2020C>T (p.P674S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807840" "0" "50" "17" "18024935" "18024935" "subst" "0.00286512" "01943" "MYO15A_000378" "g.18024935T>C" "" "" "" "MYO15A(NM_016239.3):c.2821T>C (p.S941P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807841" "0" "50" "17" "18047250" "18047250" "subst" "0" "01943" "MYO15A_000380" "g.18047250G>A" "" "" "" "MYO15A(NM_016239.3):c.6113G>A (p.R2038H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807842" "0" "30" "17" "18051363" "18051363" "subst" "0.000146873" "01943" "MYO15A_000381" "g.18051363G>A" "" "" "" "MYO15A(NM_016239.3):c.6530G>A (p.R2177Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807843" "0" "50" "17" "18052846" "18052846" "subst" "0" "01943" "MYO15A_000382" "g.18052846C>A" "" "" "" "MYO15A(NM_016239.3):c.7164C>A (p.D2388E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807844" "0" "30" "17" "18054237" "18054237" "subst" "0.000614802" "01943" "MYO15A_000383" "g.18054237G>T" "" "" "" "MYO15A(NM_016239.3):c.7473+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807845" "0" "50" "17" "18054500" "18054500" "subst" "0.000158441" "01943" "MYO15A_000384" "g.18054500C>G" "" "" "" "MYO15A(NM_016239.3):c.7550C>G (p.T2517S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807846" "0" "50" "17" "18064645" "18064645" "subst" "5.69745E-5" "01943" "MYO15A_000385" "g.18064645G>A" "" "" "" "MYO15A(NM_016239.3):c.9401G>A (p.R3134Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807847" "0" "30" "17" "18077137" "18077137" "subst" "0.00116336" "01943" "MYO15A_000386" "g.18077137C>T" "" "" "" "MYO15A(NM_016239.3):c.10393C>T (p.R3465W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807848" "0" "90" "17" "18077175" "18077175" "subst" "0" "02327" "MYO15A_000387" "g.18077175T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807849" "0" "50" "17" "18082099" "18082099" "subst" "0.00013545" "01943" "MYO15A_000388" "g.18082099G>A" "" "" "" "MYO15A(NM_016239.3):c.10508G>A (p.R3503H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810750" "0" "30" "17" "18025244" "18025261" "dup" "0" "03779" "MYO15A_000379" "g.18025244_18025261dup" "" "" "" "" "" "CLASSIFICATION record" "" "rs377177611" "0" "" "" "" "" "likely benign" "" "0000810752" "0" "30" "17" "18023337" "18023337" "subst" "2.0325E-5" "03779" "MYO15A_000072" "g.18023337C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs191710555" "0" "" "" "" "" "likely benign" "" "0000837029" "0" "50" "17" "18022899" "18022899" "subst" "4.19569E-6" "03779" "MYO15A_000389" "g.18022899C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs746407850" "0" "" "" "" "" "VUS" "" "0000837032" "0" "30" "17" "18027845" "18027845" "subst" "0.0025659" "03779" "MYO15A_000390" "g.18027845G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs146754758" "0" "" "" "" "" "likely benign" "" "0000841957" "0" "50" "17" "18066603" "18066603" "subst" "0" "03779" "MYO15A_000391" "g.18066603C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000854771" "0" "30" "17" "18022507" "18022507" "subst" "0.000571054" "01943" "MYO15A_000392" "g.18022507C>G" "" "" "" "MYO15A(NM_016239.3):c.393C>G (p.S131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854772" "0" "30" "17" "18034815" "18034815" "subst" "4.06161E-6" "01943" "MYO15A_000394" "g.18034815C>T" "" "" "" "MYO15A(NM_016239.3):c.4176C>T (p.Y1392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854773" "0" "30" "17" "18039042" "18039042" "subst" "8.12856E-6" "01943" "MYO15A_000396" "g.18039042G>A" "" "" "" "MYO15A(NM_016239.3):c.4500G>A (p.V1500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854774" "0" "50" "17" "18039094" "18039094" "subst" "0" "02327" "MYO15A_000397" "g.18039094A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854775" "0" "50" "17" "18045038" "18045038" "subst" "9.34253E-5" "02327" "MYO15A_000399" "g.18045038G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854776" "0" "90" "17" "18045504" "18045504" "subst" "0" "02327" "MYO15A_000400" "g.18045504C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854777" "0" "90" "17" "18046082" "18046082" "del" "0" "02327" "MYO15A_000401" "g.18046082del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854778" "0" "30" "17" "18046124" "18046124" "subst" "0.0011208" "01943" "MYO15A_000402" "g.18046124C>T" "" "" "" "MYO15A(NM_016239.3):c.5880C>T (p.H1960=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854779" "0" "50" "17" "18049193" "18049193" "subst" "4.09319E-6" "01943" "MYO15A_000403" "g.18049193G>A" "" "" "" "MYO15A(NM_016239.3):c.6281G>A (p.R2094H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854780" "0" "50" "17" "18051413" "18051413" "subst" "0.000138293" "02327" "MYO15A_000133" "g.18051413C>T" "" "" "" "MYO15A(NM_016239.3):c.6580C>T (p.R2194W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865105" "0" "30" "17" "18024993" "18024993" "subst" "5.0586E-5" "01943" "MYO15A_000393" "g.18024993C>G" "" "" "" "MYO15A(NM_016239.3):c.2879C>G (p.P960R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865106" "0" "30" "17" "18034182" "18034185" "del" "0" "01943" "MYO15A_000261" "g.18034182_18034185del" "" "" "" "MYO15A(NM_016239.3):c.4038+12_4038+15del (p.(=)), MYO15A(NM_016239.3):c.4038+58_4038+61delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865107" "0" "50" "17" "18035812" "18035812" "subst" "8.13537E-6" "02327" "MYO15A_000395" "g.18035812G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865108" "0" "50" "17" "18039741" "18039741" "subst" "0.000183092" "02327" "MYO15A_000398" "g.18039741G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865109" "0" "50" "17" "18049320" "18049320" "subst" "4.06683E-6" "02327" "MYO15A_000404" "g.18049320G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865110" "0" "50" "17" "18055493" "18055493" "subst" "0.000141817" "02327" "MYO15A_000405" "g.18055493C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871765" "0" "50" "17" "18035812" "18035812" "subst" "8.13537E-6" "03779" "MYO15A_000395" "g.18035812G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs753790346" "0" "" "" "" "" "VUS" "" "0000893379" "0" "90" "17" "18023660" "18023660" "subst" "0" "02327" "MYO15A_000154" "g.18023660G>T" "" "" "" "MYO15A(NM_016239.3):c.1546G>T (p.E516*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893380" "0" "70" "17" "18024169" "18024169" "delins" "0" "02327" "MYO15A_000406" "g.18024169delinsCC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000893381" "0" "50" "17" "18039052" "18039052" "subst" "0" "02327" "MYO15A_000407" "g.18039052G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893382" "0" "50" "17" "18045436" "18045436" "subst" "4.06504E-6" "02325" "MYO15A_000408" "g.18045436G>A" "" "" "" "MYO15A(NM_016239.4):c.5693G>A (p.R1898Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893383" "0" "90" "17" "18047111" "18047111" "subst" "2.66057E-5" "02327" "MYO15A_000108" "g.18047111G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893384" "0" "70" "17" "18051467" "18051467" "subst" "2.84733E-5" "02327" "MYO15A_000409" "g.18051467G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000893385" "0" "90" "17" "18052267" "18052267" "subst" "0" "02327" "MYO15A_000410" "g.18052267G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893386" "0" "50" "17" "18053795" "18053795" "subst" "0" "02327" "MYO15A_000411" "g.18053795C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893387" "0" "50" "17" "18057182" "18057182" "subst" "8.13392E-6" "02327" "MYO15A_000412" "g.18057182C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893388" "0" "50" "17" "18059549" "18059549" "subst" "0" "02327" "MYO15A_000413" "g.18059549A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893389" "0" "50" "17" "18075497" "18075497" "subst" "6.09355E-5" "02327" "MYO15A_000414" "g.18075497G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909344" "11" "90" "17" "18047075" "18047075" "subst" "0" "04147" "MYO15A_000417" "g.18047075C>T" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs756172590" "0" "" "" "g.18143761C>T" "" "pathogenic (recessive)" "ACMG" "0000909345" "21" "90" "17" "18039999" "18039999" "subst" "0" "04147" "MYO15A_000416" "g.18039999A>G" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18136685A>G" "" "pathogenic (recessive)" "ACMG" "0000909346" "11" "90" "17" "18060523" "18060523" "subst" "0" "04147" "MYO15A_000069" "g.18060523C>T" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs373462792" "0" "" "" "g.18157209C>T" "" "pathogenic (recessive)" "ACMG" "0000909347" "21" "90" "17" "18051384" "18051384" "subst" "0" "04147" "MYO15A_000419" "g.18051384G>C" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18148070G>C" "" "pathogenic (recessive)" "ACMG" "0000909348" "21" "90" "17" "18058539" "18058539" "subst" "8.1277E-6" "04147" "MYO15A_000117" "g.18058539G>A" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs878853228" "0" "" "" "g.18155225G>A" "RCV000225093" "pathogenic (recessive)" "ACMG" "0000909349" "10" "90" "17" "18035776" "18035776" "subst" "8.13319E-6" "04147" "MYO15A_000415" "g.18035776G>A" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs759810756" "0" "" "" "g.18132462G>A" "" "pathogenic (recessive)" "ACMG" "0000909353" "1" "90" "17" "18051834" "18051834" "subst" "0" "04147" "MYO15A_000420" "g.18051834A>C" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs760577812" "0" "" "" "g.18148520A>C" "" "pathogenic (recessive)" "ACMG" "0000909354" "2" "90" "17" "18057187" "18057187" "del" "8.13491E-6" "04147" "MYO15A_000421" "g.18057187del" "" "{PMID:Wonkam 2022:35440622}" "" "8065delT" "" "Germline" "yes" "rs1567654885" "0" "" "" "g.18153873del" "" "pathogenic (recessive)" "ACMG" "0000909405" "2" "90" "17" "18051351" "18051351" "subst" "0" "04147" "MYO15A_000418" "g.18051351C>T" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18148037C>T" "" "pathogenic (recessive)" "ACMG" "0000909406" "1" "90" "17" "18052173" "18052173" "subst" "0" "04147" "MYO15A_000365" "g.18052173C>T" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs886052676" "0" "" "" "g.18148859C>T" "" "pathogenic (recessive)" "ACMG" "0000909407" "11" "90" "17" "18047075" "18047075" "subst" "0" "04147" "MYO15A_000417" "g.18047075C>T" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs756172590" "0" "" "" "g.18143761C>T" "" "pathogenic (paternal)" "ACMG" "0000909408" "20" "90" "17" "18039061" "18039061" "subst" "4.06537E-6" "04147" "MYO15A_000214" "g.18039061C>T" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs549138385" "0" "" "" "g.18135747C>T" "" "pathogenic (recessive)" "ACMG" "0000909413" "1" "90" "17" "18049214" "18049214" "subst" "4.07661E-5" "04147" "MYO15A_000422" "g.18049214T>C" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs201908493" "0" "" "" "g.18145900T>C" "" "pathogenic (recessive)" "ACMG" "0000909414" "2" "90" "17" "18051467" "18051467" "subst" "2.84733E-5" "04147" "MYO15A_000409" "g.18051467G>A" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs371352836" "0" "" "" "g.18148153G>A" "" "pathogenic (recessive)" "ACMG" "0000909415" "1" "90" "17" "18058539" "18058539" "subst" "8.1277E-6" "04147" "MYO15A_000117" "g.18058539G>A" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs878853228" "0" "" "" "g.18155225G>A" "" "pathogenic (recessive)" "ACMG" "0000909439" "2" "90" "17" "18069834" "18069834" "subst" "0" "04147" "MYO15A_000423" "g.18069834A>G" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18166520A>G" "" "pathogenic (recessive)" "ACMG" "0000909784" "3" "50" "17" "18023897" "18023897" "subst" "0.45373" "00006" "MYO15A_000043" "g.18023897G>A" "" "{PMID:Taghipour-Sheshdeh 2019:29752989}," "" "A595T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000914748" "0" "90" "17" "18030104" "18030104" "subst" "0" "02327" "MYO15A_000424" "g.18030104G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000921782" "0" "50" "17" "18047273" "18047273" "subst" "0" "03779" "MYO15A_000425" "g.18047273A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000921783" "0" "50" "17" "18051413" "18051413" "subst" "0.000138293" "03779" "MYO15A_000133" "g.18051413C>T" "" "" "" "" "" "Unknown" "" "rs773551819" "0" "" "" "" "" "VUS" "" "0000926404" "0" "70" "17" "18023023" "18023023" "subst" "0" "02327" "MYO15A_000426" "g.18023023C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926405" "0" "50" "17" "18025592" "18025592" "subst" "2.44469E-5" "02325" "MYO15A_000427" "g.18025592C>T" "" "" "" "MYO15A(NM_016239.4):c.3478C>T (p.R1160W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926406" "0" "50" "17" "18027809" "18027809" "subst" "0.000864407" "02327" "MYO15A_000428" "g.18027809C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926407" "0" "50" "17" "18042211" "18042211" "subst" "4.0945E-6" "02325" "MYO15A_000429" "g.18042211G>C" "" "" "" "MYO15A(NM_016239.4):c.5094G>C (p.E1698D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926408" "0" "50" "17" "18060374" "18060374" "subst" "0.000252246" "02327" "MYO15A_000285" "g.18060374G>A" "" "" "" "MYO15A(NM_016239.3):c.8708G>A (p.R2903Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930703" "0" "50" "17" "18023210" "18023210" "subst" "8.12764E-6" "02327" "MYO15A_000430" "g.18023210G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930704" "0" "90" "17" "18077169" "18077169" "subst" "0" "02327" "MYO15A_000110" "g.18077169C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000943886" "3" "90" "17" "18043955" "18043955" "subst" "0" "00006" "MYO15A_000431" "g.18043955T>C" "" "{PMID:Ammar-Khodja 2015:26029705}" "" "5336A>G (Leu1779Pro)" "" "Germline" "yes" "" "0" "" "" "g.18140641T>C" "" "pathogenic (recessive)" "" "0000943902" "1" "70" "17" "18029737" "18029737" "subst" "0" "00006" "MYO15A_000437" "g.18029737A>C" "" "{PMID:Sang 2019:31379920}" "" "" "" "Germline" "" "" "0" "" "" "g.18126423A>C" "" "likely pathogenic (recessive)" "ACMG" "0000943903" "1" "70" "17" "18036569" "18036569" "subst" "1.21914E-5" "00006" "MYO15A_000009" "g.18036569G>A" "" "{PMID:Sang 2019:31379920}" "" "" "" "Germline" "" "" "0" "" "" "g.18133255G>A" "" "likely pathogenic (recessive)" "ACMG" "0000943916" "2" "70" "17" "18069763" "18069763" "subst" "1.21886E-5" "00006" "MYO15A_000444" "g.18069763G>T" "" "{PMID:Sang 2019:31379920}" "" "" "" "Germline" "" "" "0" "" "" "g.18166449G>T" "" "likely pathogenic (recessive)" "ACMG" "0000943917" "2" "70" "17" "18049373" "18049373" "subst" "0" "00006" "MYO15A_000440" "g.18049373G>A" "" "{PMID:Sang 2019:31379920}" "" "" "" "Germline" "" "" "0" "" "" "g.18146059G>A" "" "likely pathogenic (recessive)" "ACMG" "0000943945" "0" "30" "17" "18023225" "18023225" "subst" "0.00136522" "00006" "MYO15A_000150" "g.18023225C>A" "" "{PMID:Eisenberger 2018:29309402}" "" "" "" "Germline" "" "rs200382813" "0" "" "" "g.18119911C>A" "" "likely benign" "" "0000944140" "3" "90" "17" "18024570" "18024570" "subst" "1.26291E-5" "00006" "MYO15A_000436" "g.18024570C>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.18121256C>A" "" "pathogenic (recessive)" "" "0000944141" "3" "90" "17" "18025619" "18025619" "subst" "1.22637E-5" "00006" "MYO15A_000113" "g.18025619C>T" "" "{PMID:Richard 2019: 30303587}" "" "3843C>T (Arg1169*)" "" "Germline" "" "" "0" "" "" "g.18122305C>T" "" "pathogenic (recessive)" "ACMG" "0000944142" "1" "90" "17" "18039070" "18039070" "subst" "0" "00006" "MYO15A_000438" "g.18039070C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.18135756C>T" "" "pathogenic (recessive)" "" "0000944143" "3" "90" "17" "18025619" "18025619" "subst" "1.22637E-5" "00006" "MYO15A_000113" "g.18025619C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.18122305C>T" "" "pathogenic (recessive)" "ACMG" "0000944144" "3" "90" "17" "18058072" "18058072" "subst" "0" "00006" "MYO15A_000443" "g.18058072A>G" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.18154758A>G" "" "pathogenic (recessive)" "" "0000944289" "2" "90" "17" "18039112" "18039112" "subst" "4.07554E-6" "00006" "MYO15A_000439" "g.18039112C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.18135798C>T" "" "pathogenic (recessive)" "ACMG" "0000944306" "3" "90" "17" "18075078" "18075079" "delins" "0" "00006" "MYO15A_000432" "g.18075078_18075079delinsCCACCAGGCCCGTGCCTCCC" "" "{PMID:Mahmood 2021:33997018}" "" "10208-10211insCCACCAGGCCCGTGCCTC" "" "Germline" "yes" "" "0" "" "" "g.18171764_18171765delinsCCACCAGGCCCGTGCCTCCC" "" "pathogenic (recessive)" "" "0000944310" "3" "90" "17" "18045416" "18045416" "subst" "0" "00006" "MYO15A_000433" "g.18045416C>G" "" "{PMID:Vanniya 2022:34374074}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18142102C>G" "" "pathogenic (recessive)" "" "0000944311" "1" "90" "17" "18045416" "18045416" "subst" "0" "00006" "MYO15A_000433" "g.18045416C>G" "" "{PMID:Vanniya 2022:34374074}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18142102C>G" "" "pathogenic (recessive)" "" "0000944312" "2" "90" "17" "18036672" "18036672" "subst" "4.06339E-6" "00006" "MYO15A_000434" "g.18036672T>C" "" "{PMID:Vanniya 2022:34374074}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18133358T>C" "" "pathogenic (recessive)" "" "0000944313" "11" "90" "17" "18045416" "18045416" "subst" "0" "00006" "MYO15A_000433" "g.18045416C>G" "" "{PMID:Vanniya 2022:34374074}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18142102C>G" "" "pathogenic (recessive)" "" "0000944314" "21" "90" "17" "18036672" "18036672" "subst" "4.06339E-6" "00006" "MYO15A_000434" "g.18036672T>C" "" "{PMID:Vanniya 2022:34374074}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18133358T>C" "" "pathogenic (recessive)" "" "0000944492" "3" "90" "17" "18023771" "18023771" "del" "0" "00006" "MYO15A_000435" "g.18023771del" "" "{PMID:Naz 2017:27573290}" "" "1657delC" "" "Germline" "" "rs750651809" "0" "" "" "g.18120457del" "" "pathogenic (recessive)" "" "0000944493" "3" "90" "17" "18024570" "18024570" "subst" "1.26291E-5" "00006" "MYO15A_000436" "g.18024570C>A" "" "{PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.18121256C>A" "" "pathogenic (recessive)" "" "0000944494" "3" "90" "17" "18029771" "18029771" "subst" "1.63247E-5" "00006" "MYO15A_000007" "g.18029771G>A" "" "{PMID:Nal 2007:17546645}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs374742590" "0" "" "" "g.18126457G>A" "" "pathogenic (recessive)" "" "0000944495" "3" "90" "17" "18051422" "18051422" "subst" "4.06696E-6" "00006" "MYO15A_000441" "g.18051422C>T" "" "{PMID:Rehman 2016:27375115}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.18148108C>T" "" "pathogenic (recessive)" "" "0000944496" "3" "90" "17" "18058003" "18058003" "subst" "4.06865E-6" "00006" "MYO15A_000442" "g.18058003G>A" "" "{PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "" "0" "" "" "g.18154689G>A" "" "pathogenic (recessive)" "" "0000950810" "0" "70" "17" "18044343" "18044343" "subst" "0" "02327" "MYO15A_000096" "g.18044343T>C" "" "" "" "MYO15A(NM_016239.3):c.5417T>C (p.L1806P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950811" "0" "90" "17" "18051493" "18051493" "del" "0" "02327" "MYO15A_000445" "g.18051493del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000958592" "0" "90" "17" "18023299" "18023299" "dup" "0" "00006" "MYO15A_000030" "g.18023299dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.18119985dup" "" "pathogenic (recessive)" "ACMG" "0000968721" "0" "50" "17" "18042211" "18042211" "subst" "4.0945E-6" "02327" "MYO15A_000429" "g.18042211G>C" "" "" "" "MYO15A(NM_016239.4):c.5094G>C (p.E1698D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968722" "0" "50" "17" "18042915" "18042915" "subst" "0" "02327" "MYO15A_000447" "g.18042915G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968723" "0" "50" "17" "18043906" "18043906" "subst" "0.00180046" "02325" "MYO15A_000129" "g.18043906C>T" "" "" "" "MYO15A(NM_016239.3):c.5287C>T (p.R1763W), MYO15A(NM_016239.4):c.5287C>T (p.R1763W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968724" "0" "90" "17" "18051884" "18051884" "subst" "2.00862E-5" "02325" "MYO15A_000127" "g.18051884T>A" "" "" "" "MYO15A(NM_016239.3):c.6764+2T>A, MYO15A(NM_016239.4):c.6764+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000971423" "0" "70" "17" "18075077" "18075078" "delins" "0" "04656" "MYO15A_000446" "g.18075077_18075078delinsCCACCAGGCCCGTGCAGCTC" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.18171763_18171764delinsCCACCAGGCCCGTGCAGCTC" "" "likely pathogenic" "" "0000982349" "0" "30" "17" "18027846" "18027846" "subst" "0.000502418" "01804" "MYO15A_000165" "g.18027846G>A" "" "" "" "MYO15A(NM_016239.3):c.3659G>A (p.G1220E), MYO15A(NM_016239.4):c.3659G>A (p.(Gly1220Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982350" "0" "50" "17" "18036642" "18036642" "subst" "0.000308787" "01804" "MYO15A_000266" "g.18036642T>C" "" "" "" "MYO15A(NM_016239.3):c.4424T>C (p.I1475T), MYO15A(NM_016239.4):c.4424T>C (p.(Ile1475Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982351" "0" "50" "17" "18041519" "18041519" "subst" "0" "01804" "MYO15A_000448" "g.18041519G>A" "" "" "" "MYO15A(NM_016239.4):c.4966G>A (p.(Gly1656Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982352" "0" "50" "17" "18042164" "18042164" "subst" "1.63014E-5" "02327" "MYO15A_000449" "g.18042164C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982353" "0" "30" "17" "18046138" "18046138" "subst" "0.00445915" "01804" "MYO15A_000180" "g.18046138G>A" "" "" "" "MYO15A(NM_016239.3):c.5894G>A (p.R1965H), MYO15A(NM_016239.4):c.5894G>A (p.(Arg1965His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982354" "0" "50" "17" "18069749" "18069749" "subst" "2.0315E-5" "01804" "MYO15A_000450" "g.18069749G>A" "" "" "" "MYO15A(NM_016239.4):c.9862G>A (p.(Gly3288Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003013" "0" "50" "17" "18022572" "18022572" "subst" "0" "02327" "MYO15A_000451" "g.18022572A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003014" "0" "50" "17" "18022671" "18022671" "subst" "8.60037E-6" "02327" "MYO15A_000452" "g.18022671G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003015" "0" "70" "17" "18024168" "18024168" "dup" "0" "02327" "MYO15A_000453" "g.18024168dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001003016" "0" "30" "17" "18024948" "18024948" "subst" "3.04883E-5" "01804" "MYO15A_000454" "g.18024948G>A" "" "" "" "MYO15A(NM_016239.3):c.2834G>A (p.(Gly945Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003017" "0" "70" "17" "18051467" "18051467" "subst" "0" "01804" "MYO15A_000455" "g.18051467G>C" "" "" "" "MYO15A(NM_016239.3):c.6634G>C (p.(Glu2212Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001003018" "0" "90" "17" "18058719" "18058737" "del" "0" "01804" "MYO15A_000456" "g.18058719_18058737del" "" "" "" "MYO15A(NM_016239.3):c.8432_8450delGGCAGCTGCGGGTCCTGCG (p.(Gly2811fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015479" "0" "50" "17" "18027860" "18027860" "subst" "1.63491E-5" "02327" "MYO15A_000457" "g.18027860G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015480" "0" "50" "17" "18039082" "18039082" "subst" "0" "02327" "MYO15A_000458" "g.18039082G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015481" "0" "50" "17" "18051383" "18051383" "subst" "0" "02327" "MYO15A_000459" "g.18051383T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015482" "0" "50" "17" "18053774" "18053774" "subst" "0.000134021" "02327" "MYO15A_000460" "g.18053774G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015483" "0" "30" "17" "18077137" "18077137" "subst" "0.00116336" "02327" "MYO15A_000386" "g.18077137C>T" "" "" "" "MYO15A(NM_016239.3):c.10393C>T (p.R3465W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001020158" "0" "50" "17" "18044101" "18044101" "subst" "0" "03779" "MYO15A_000461" "g.18044101G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001020262" "0" "70" "17" "18039123" "18039123" "del" "0" "03779" "MYO15A_000462" "g.18039123del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1597784648" "0" "" "" "" "" "likely pathogenic" "" "0001026825" "0" "50" "17" "18057079" "18057079" "subst" "0" "02327" "MYO15A_000463" "g.18057079C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026826" "0" "50" "17" "18071002" "18071002" "subst" "0" "02327" "MYO15A_000464" "g.18071002G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041665" "0" "30" "17" "18029653" "18029653" "subst" "0" "01804" "MYO15A_000465" "g.18029653C>G" "" "" "" "MYO15A(NM_016239.4):c.3757-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041666" "0" "50" "17" "18043933" "18043933" "subst" "3.25084E-5" "01804" "MYO15A_000466" "g.18043933G>A" "" "" "" "MYO15A(NM_016239.4):c.5314G>A (p.(Ala1772Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041667" "0" "30" "17" "18044097" "18044097" "subst" "0" "01804" "MYO15A_000467" "g.18044097C>T" "" "" "" "MYO15A(NM_016239.4):c.5361-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041668" "0" "30" "17" "18058468" "18058468" "subst" "0.0022905" "01804" "MYO15A_000195" "g.18058468G>A" "" "" "" "MYO15A(NM_016239.3):c.8269G>A (p.V2757M), MYO15A(NM_016239.4):c.8269G>A (p.(Val2757Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041669" "0" "70" "17" "18069748" "18069748" "subst" "0.000190982" "02327" "MYO15A_000468" "g.18069748C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001044957" "1" "90" "17" "18025638" "18025638" "dup" "0" "00006" "MYO15A_000377" "g.18025638dup" "9/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "3524dupA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18122324dup" "" "pathogenic (recessive)" "" "0001044958" "1" "90" "17" "18075504" "18075506" "del" "0" "00006" "MYO15A_000345" "g.18075504_18075506del" "8/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "10250_10252delCCT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18172190_18172192del" "" "pathogenic (recessive)" "" "0001044959" "1" "90" "17" "18058027" "18058027" "subst" "1.22033E-5" "00006" "MYO15A_000481" "g.18058027C>G" "4/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18154713C>G" "" "pathogenic (recessive)" "" "0001044960" "1" "90" "17" "18029629" "18029660" "del" "0" "00006" "MYO15A_000469" "g.18029629_18029660del" "3/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18126315_18126346del" "" "pathogenic (recessive)" "" "0001044961" "1" "90" "17" "18046936" "18046936" "subst" "2.94329E-5" "00006" "MYO15A_000477" "g.18046936G>A" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18143622G>A" "" "pathogenic (recessive)" "" "0001044962" "1" "90" "17" "18064652" "18064652" "subst" "2.43859E-5" "00006" "MYO15A_000289" "g.18064652G>C" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18161338G>C" "" "pathogenic (recessive)" "" "0001044963" "1" "90" "17" "18074980" "18074980" "subst" "4.06616E-6" "00006" "MYO15A_000483" "g.18074980C>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18171666C>T" "" "pathogenic (recessive)" "" "0001044964" "1" "90" "17" "18075512" "18075514" "del" "0" "00006" "MYO15A_000067" "g.18075512_18075514del" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "10258_10260delTTC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18172198_18172200del" "" "pathogenic (recessive)" "" "0001044965" "1" "90" "17" "18029748" "18029748" "subst" "5.6962E-5" "00006" "MYO15A_000128" "g.18029748C>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18126434C>T" "" "pathogenic (recessive)" "" "0001044966" "1" "90" "17" "18034615" "18034615" "subst" "0" "00006" "MYO15A_000470" "g.18034615C>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18131301C>A" "" "pathogenic (recessive)" "" "0001044967" "1" "90" "17" "18036675" "18036675" "subst" "0" "00006" "MYO15A_000471" "g.18036675G>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18133361G>T" "" "pathogenic (recessive)" "" "0001044968" "1" "90" "17" "18039776" "18039776" "subst" "2.0346E-5" "00006" "MYO15A_000472" "g.18039776G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18136462G>A" "" "pathogenic (recessive)" "" "0001044969" "1" "90" "17" "18039981" "18039981" "subst" "0" "00006" "MYO15A_000473" "g.18039981T>C" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18136667T>C" "" "pathogenic (recessive)" "" "0001044970" "1" "90" "17" "18039983" "18039984" "ins" "0" "00006" "MYO15A_000474" "g.18039983_18039984insTTTCTATG" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "4761_4762insGTTTCTAT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18136669_18136670insTTTCTATG" "" "pathogenic (recessive)" "" "0001044971" "1" "90" "17" "18044349" "18044365" "del" "0" "00006" "MYO15A_000475" "g.18044349_18044365del" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18141035_18141051del" "" "pathogenic (recessive)" "" "0001044972" "1" "90" "17" "18044369" "18044369" "subst" "0" "00006" "MYO15A_000476" "g.18044369C>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18141055C>A" "" "pathogenic (recessive)" "" "0001044973" "1" "90" "17" "18047041" "18047041" "subst" "0" "00006" "MYO15A_000478" "g.18047041C>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18143727C>T" "" "pathogenic (recessive)" "" "0001044974" "1" "90" "17" "18049193" "18049193" "subst" "4.09319E-6" "00006" "MYO15A_000403" "g.18049193G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18145879G>A" "" "pathogenic (recessive)" "" "0001044975" "1" "90" "17" "18052267" "18052267" "subst" "0" "00006" "MYO15A_000410" "g.18052267G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18148953G>A" "" "pathogenic (recessive)" "" "0001044976" "1" "90" "17" "18054765" "18054766" "dup" "0" "00006" "MYO15A_000479" "g.18054765_18054766dup" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "7708_7709insCA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18151451_18151452dup" "" "pathogenic (recessive)" "" "0001044977" "1" "90" "17" "18057109" "18057109" "dup" "0" "00006" "MYO15A_000480" "g.18057109dup" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "7986dupG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18153795dup" "" "pathogenic (recessive)" "" "0001044978" "1" "90" "17" "18060267" "18060267" "subst" "0" "00006" "MYO15A_000482" "g.18060267G>C" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.18156953G>C" "" "pathogenic (recessive)" "" "0001046598" "0" "50" "17" "18047270" "18047270" "subst" "4.11882E-6" "02327" "MYO15A_000485" "g.18047270A>T" "" "" "" "" "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 MYO15A ## Count = 655 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein/Domain}}" "0000013647" "00000746" "30" "10491" "1840" "10491" "1840" "c.10491+1840C>T" "r.(?)" "p.(=)" "65i" "" "0000021269" "00000746" "70" "625" "0" "625" "0" "c.625G>T" "r.(?)" "p.(Glu209*)" "2" "" "0000021270" "00000746" "70" "1137" "0" "1137" "0" "c.1137del" "r.(?)" "p.(Tyr380fs)" "2" "" "0000021279" "00000746" "70" "6764" "2" "6764" "2" "c.6764+2T>A" "r.(?)" "p.?" "32i" "" "0000021280" "00000746" "70" "3844" "0" "3844" "0" "c.3844C>T" "r.(?)" "p.(Arg1282Trp)" "5" "" "0000021281" "00000746" "70" "5287" "0" "5287" "0" "c.5287C>T" "r.(?)" "p.(Arg1763Trp)" "20" "" "0000089787" "00000746" "90" "7207" "0" "7207" "0" "c.7207G>T" "r.(?)" "p.(Asp2403Tyr)" "35" "" "0000089801" "00000746" "90" "7207" "0" "7207" "0" "c.7207G>T" "r.(?)" "p.(Asp2403Tyr)" "35" "" "0000089802" "00000746" "90" "8340" "0" "8340" "0" "c.8340G>A" "r.(8225_8340del)" "p.(Ala2742Glyfs*62)" "46" "" "0000089803" "00000746" "90" "7745" "0" "8224" "177" "c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC" "r.spl?" "p.?" "40_45i" "" "0000089804" "00000746" "90" "7207" "0" "7207" "0" "c.7207G>T" "r.(?)" "p.(Asp2403Tyr)" "35" "" "0000089805" "00000746" "90" "6340" "0" "6340" "0" "c.6340G>A" "r.(?)" "p.(Val2114Met)" "29" "" "0000089899" "00000746" "70" "6194" "0" "6194" "0" "c.6194T>A" "r.(?)" "p.(Met2065Lys)" "29" "" "0000089930" "00000746" "50" "6224" "0" "6224" "0" "c.6224C>G" "r.(?)" "p.(Thr2075Arg)" "" "" "0000089931" "00000746" "50" "371" "0" "371" "0" "c.371C>G" "r.(?)" "p.(Ala124Gly)" "" "" "0000089932" "00000746" "50" "1133" "0" "1133" "0" "c.1133del" "r.(?)" "p.(Val378Alafs*66)" "" "" "0000089933" "00000746" "50" "7211" "0" "7211" "0" "c.7211C>T" "r.(?)" "p.(Ala2404Val)" "" "" "0000089934" "00000746" "50" "1210" "0" "1210" "0" "c.1210G>T" "r.(?)" "p.(Glu404*)" "" "" "0000089935" "00000746" "50" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Pro732Ser)" "" "" "0000089936" "00000746" "50" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129*)" "" "" "0000089937" "00000746" "50" "4497" "0" "4497" "0" "c.4497G>T" "r.(?)" "p.(Glu1499Asp)" "" "" "0000089939" "00000746" "30" "6580" "0" "6580" "0" "c.6580C>T" "r.(?)" "p.(Arg2194Trp)" "31" "" "0000089940" "00000746" "90" "7893" "1" "7893" "1" "c.7893+1G>A" "r.spl" "p.?" "41i" "" "0000089941" "00000746" "50" "5007" "1" "5007" "1" "c.5007+1G>C" "r.spl?" "p.?" "" "" "0000089942" "00000746" "50" "6046" "1" "6046" "1" "c.6046+1G>A" "r.spl?" "p.?" "" "" "0000089943" "00000746" "50" "6046" "1" "6046" "1" "c.6046+1G>A" "r.spl?" "p.?" "" "" "0000091200" "00000746" "90" "8467" "0" "8467" "0" "c.8467G>A" "r.(?)" "p.(Asp2823Asn)" "47" "" "0000091202" "00000746" "90" "373" "0" "374" "0" "c.373_374del" "r.(?)" "p.(Arg125Valfs*102)" "2" "" "0000091203" "00000746" "90" "8183" "0" "8183" "0" "c.8183G>A" "r.(?)" "p.(Arg2728His)" "44" "" "0000091301" "00000746" "90" "8467" "0" "8467" "0" "c.8467G>A" "r.(?)" "p.(Asp2823Asn)" "47" "" "0000091303" "00000746" "90" "373" "0" "374" "0" "c.373_374del" "r.(?)" "p.(Arg125Valfs*102)" "2" "" "0000129000" "00000746" "70" "625" "0" "625" "0" "c.625G>T" "r.(?)" "p.(Glu209*)" "" "" "0000129001" "00000746" "70" "1137" "0" "1137" "0" "c.1137del" "r.(?)" "p.(Tyr380Metfs*64)" "" "" "0000129006" "00000746" "70" "6764" "2" "6764" "2" "c.6764+2T>A" "r.spl?" "p.?" "" "" "0000129007" "00000746" "70" "3844" "0" "3844" "0" "c.3844C>T" "r.(?)" "p.(Arg1282Trp)" "" "" "0000129008" "00000746" "70" "5287" "0" "5287" "0" "c.5287C>T" "r.(?)" "p.(Arg1763Trp)" "" "" "0000129012" "00000746" "70" "6787" "0" "6787" "0" "c.6787G>A" "r.(?)" "p.(Gly2263Ser)" "" "" "0000129013" "00000746" "70" "7893" "1" "7893" "1" "c.7893+1G>A" "r.spl?" "p.?" "" "" "0000129031" "00000746" "70" "3311" "0" "3311" "0" "c.3311dup" "r.(?)" "p.(Glu1105*)" "" "" "0000129032" "00000746" "70" "3311" "0" "3311" "0" "c.3311dup" "r.(?)" "p.(Glu1105*)" "" "" "0000130218" "00000746" "90" "8158" "0" "8158" "0" "c.8158G>C" "r.(?)" "p.(Asp2720His)" "" "" "0000247972" "00000746" "10" "1899" "0" "1899" "0" "c.1899A>G" "r.(?)" "p.(Pro633=)" "" "" "0000248027" "00000746" "10" "5826" "-12" "5826" "-12" "c.5826-12A>C" "r.(=)" "p.(=)" "" "" "0000248951" "00000746" "10" "8045" "0" "8045" "0" "c.8045A>T" "r.(?)" "p.(Tyr2682Phe)" "" "" "0000253233" "00000746" "10" "1899" "0" "1899" "0" "c.1899A>G" "r.(?)" "p.(Pro633=)" "" "" "0000253288" "00000746" "10" "5826" "-12" "5826" "-12" "c.5826-12A>C" "r.(=)" "p.(=)" "" "" "0000254799" "00000746" "30" "9754" "0" "9754" "0" "c.9754A>G" "r.(?)" "p.(Asn3252Asp)" "" "" "0000256142" "00000746" "50" "5389" "0" "5389" "0" "c.5389A>C" "r.(?)" "p.(Lys1797Gln)" "" "" "0000256321" "00000746" "50" "1387" "0" "1387" "0" "c.1387A>G" "r.(?)" "p.(Met463Val)" "" "" "0000296213" "00000746" "10" "10431" "0" "10431" "0" "c.10431T>C" "r.(?)" "p.(Tyr3477=)" "" "" "0000296214" "00000746" "10" "2152" "0" "2152" "0" "c.2152T>G" "r.(?)" "p.(Trp718Gly)" "" "" "0000296215" "00000746" "10" "4954" "0" "4954" "0" "c.4954C>T" "r.(?)" "p.(Leu1652=)" "" "" "0000296216" "00000746" "10" "5212" "-65" "5212" "-65" "c.5212-65C>G" "r.(=)" "p.(=)" "" "" "0000296217" "00000746" "10" "5929" "0" "5929" "0" "c.5929T>C" "r.(?)" "p.(Cys1977Arg)" "" "" "0000296218" "00000746" "10" "7185" "0" "7185" "0" "c.7185T>C" "r.(?)" "p.(Phe2395=)" "" "" "0000296219" "00000746" "10" "7857" "0" "7857" "0" "c.7857G>A" "r.(?)" "p.(Gly2619=)" "" "" "0000296220" "00000746" "10" "8088" "5" "8088" "5" "c.8088+5C>G" "r.spl?" "p.?" "" "" "0000296221" "00000746" "10" "8322" "0" "8322" "0" "c.8322C>T" "r.(?)" "p.(Ser2774=)" "" "" "0000296222" "00000746" "10" "8460" "-15" "8460" "-15" "c.8460-15C>T" "r.(=)" "p.(=)" "" "" "0000296223" "00000746" "10" "9486" "0" "9486" "0" "c.9486C>T" "r.(?)" "p.(Asp3162=)" "" "" "0000296224" "00000746" "10" "9518" "-11" "9518" "-11" "c.9518-11T>C" "r.(=)" "p.(=)" "" "" "0000302634" "00000746" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Tyr342=)" "" "" "0000302635" "00000746" "30" "1111" "0" "1111" "0" "c.1111C>A" "r.(?)" "p.(Pro371Thr)" "" "" "0000302636" "00000746" "90" "1185" "0" "1185" "0" "c.1185del" "r.(?)" "p.(Glu396ArgfsTer48)" "" "" "0000302637" "00000746" "30" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Gly462Asp)" "" "" "0000302638" "00000746" "90" "1546" "0" "1546" "0" "c.1546G>T" "r.(?)" "p.(Glu516Ter)" "" "" "0000302639" "00000746" "50" "1613" "0" "1613" "0" "c.1613G>A" "r.(?)" "p.(Arg538His)" "" "" "0000302640" "00000746" "30" "2028" "0" "2028" "0" "c.2028C>A" "r.(?)" "p.(Pro676=)" "" "" "0000302641" "00000746" "10" "2152" "0" "2152" "0" "c.2152T>G" "r.(?)" "p.(Trp718Gly)" "" "" "0000302642" "00000746" "50" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Pro732Ser)" "" "" "0000302643" "00000746" "30" "2619" "0" "2619" "0" "c.2619G>T" "r.(?)" "p.(Arg873=)" "" "" "0000302644" "00000746" "30" "2625" "0" "2625" "0" "c.2625C>T" "r.(?)" "p.(Leu875=)" "" "" "0000302645" "00000746" "50" "3005" "0" "3005" "0" "c.3005C>A" "r.(?)" "p.(Thr1002Asn)" "" "" "0000302646" "00000746" "90" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Ter)" "" "" "0000302647" "00000746" "10" "3609" "21" "3609" "21" "c.3609+21C>G" "r.(=)" "p.(=)" "" "" "0000302648" "00000746" "30" "3624" "0" "3624" "0" "c.3624C>A" "r.(?)" "p.(Arg1208=)" "" "" "0000302649" "00000746" "30" "3659" "0" "3659" "0" "c.3659G>A" "r.(?)" "p.(Gly1220Glu)" "" "" "0000302650" "00000746" "30" "3979" "0" "3979" "0" "c.3979C>T" "r.(?)" "p.(Leu1327=)" "" "" "0000302652" "00000746" "50" "4666" "0" "4666" "0" "c.4666G>A" "r.(?)" "p.(Ala1556Thr)" "" "" "0000302653" "00000746" "30" "4719" "0" "4719" "0" "c.4719G>A" "r.(?)" "p.(Ala1573=)" "" "" "0000302654" "00000746" "30" "4779" "9" "4779" "9" "c.4779+9G>A" "r.(=)" "p.(=)" "" "" "0000302655" "00000746" "50" "4976" "0" "4976" "0" "c.4976G>A" "r.(?)" "p.(Arg1659Gln)" "" "" "0000302656" "00000746" "30" "5055" "0" "5055" "0" "c.5055C>T" "r.(?)" "p.(Ala1685=)" "" "" "0000302657" "00000746" "50" "5825" "0" "5825" "0" "c.5825G>C" "r.(?)" "p.(Arg1942Thr)" "" "" "0000302658" "00000746" "50" "5852" "0" "5852" "0" "c.5852G>C" "r.(?)" "p.(Ser1951Thr)" "" "" "0000302659" "00000746" "50" "5866" "0" "5866" "0" "c.5866C>T" "r.(?)" "p.(Arg1956Trp)" "" "" "0000302660" "00000746" "30" "5894" "0" "5894" "0" "c.5894G>A" "r.(?)" "p.(Arg1965His)" "" "" "0000302661" "00000746" "90" "5925" "0" "5925" "0" "c.5925G>A" "r.(?)" "p.(Trp1975Ter)" "" "" "0000302662" "00000746" "10" "5929" "0" "5929" "0" "c.5929T>C" "r.(?)" "p.(Cys1977Arg)" "" "" "0000302663" "00000746" "30" "6273" "6" "6273" "6" "c.6273+6G>C" "r.(=)" "p.(=)" "" "" "0000302664" "00000746" "50" "6611" "0" "6611" "0" "c.6611G>A" "r.(?)" "p.(Arg2204His)" "" "" "0000302665" "00000746" "30" "6614" "0" "6614" "0" "c.6614C>T" "r.(?)" "p.(Thr2205Ile)" "" "" "0000302666" "00000746" "50" "6743" "0" "6743" "0" "c.6743C>T" "r.(?)" "p.(Ala2248Val)" "" "" "0000302667" "00000746" "30" "7773" "0" "7773" "0" "c.7773G>A" "r.(?)" "p.(Arg2591=)" "" "" "0000302668" "00000746" "30" "7908" "0" "7908" "0" "c.7908C>T" "r.(?)" "p.(Ala2636=)" "" "" "0000302669" "00000746" "70" "8090" "0" "8090" "0" "c.8090T>C" "r.(?)" "p.(Val2697Ala)" "" "" "0000302670" "00000746" "50" "8170" "0" "8170" "0" "c.8170G>A" "r.(?)" "p.(Glu2724Lys)" "" "" "0000302671" "00000746" "30" "8269" "0" "8269" "0" "c.8269G>A" "r.(?)" "p.(Val2757Met)" "" "" "0000302672" "00000746" "70" "8340" "5" "8340" "5" "c.8340+5G>A" "r.spl?" "p.?" "" "" "0000302673" "00000746" "30" "8811" "0" "8811" "0" "c.8811C>T" "r.(?)" "p.(His2937=)" "" "" "0000302674" "00000746" "30" "915" "0" "915" "0" "c.915C>T" "r.(?)" "p.(Tyr305=)" "" "" "0000302675" "00000746" "30" "9691" "-3" "9691" "-3" "c.9691-3C>A" "r.spl?" "p.?" "" "" "0000325276" "00000746" "30" "10573" "0" "10573" "0" "c.10573A>G" "r.(?)" "p.(Ser3525Gly)" "" "" "0000337381" "00000746" "30" "5133" "15" "5133" "15" "c.5133+15A>G" "r.(=)" "p.(=)" "" "" "0000337382" "00000746" "10" "5212" "-14" "5212" "-14" "c.5212-14C>T" "r.(=)" "p.(=)" "" "" "0000337383" "00000746" "10" "5649" "14" "5649" "14" "c.5649+14G>A" "r.(=)" "p.(=)" "" "" "0000337384" "00000746" "10" "5826" "-12" "5826" "-12" "c.5826-12A>C" "r.(=)" "p.(=)" "" "" "0000337385" "00000746" "30" "7212" "20" "7212" "20" "c.7212+20G>A" "r.(=)" "p.(=)" "" "" "0000337386" "00000746" "10" "7655" "-17" "7655" "-17" "c.7655-17G>A" "r.(=)" "p.(=)" "" "" "0000337387" "00000746" "10" "8088" "5" "8088" "5" "c.8088+5C>G" "r.spl?" "p.?" "" "" "0000337388" "00000746" "10" "8460" "-15" "8460" "-15" "c.8460-15C>T" "r.(=)" "p.(=)" "" "" "0000337389" "00000746" "30" "8968" "-7" "8968" "-7" "c.8968-7T>C" "r.(=)" "p.(=)" "" "" "0000337390" "00000746" "90" "8968" "-1" "8968" "-1" "c.8968-1G>T" "r.spl?" "p.?" "" "" "0000337391" "00000746" "10" "9518" "-11" "9518" "-11" "c.9518-11T>C" "r.(=)" "p.(=)" "" "" "0000338990" "00000746" "50" "4666" "0" "4666" "0" "c.4666G>A" "r.(?)" "p.(Ala1556Thr)" "" "" "0000339568" "00000746" "10" "4954" "0" "4954" "0" "c.4954C>T" "r.(?)" "p.(Leu1652=)" "" "" "0000339569" "00000746" "10" "7185" "0" "7185" "0" "c.7185T>C" "r.(?)" "p.(Phe2395=)" "" "" "0000339570" "00000746" "10" "7503" "0" "7503" "0" "c.7503G>A" "r.(?)" "p.(Thr2501=)" "" "" "0000339571" "00000746" "10" "7857" "0" "7857" "0" "c.7857G>A" "r.(?)" "p.(Gly2619=)" "" "" "0000339572" "00000746" "10" "8322" "0" "8322" "0" "c.8322C>T" "r.(?)" "p.(Ser2774=)" "" "" "0000339573" "00000746" "10" "9486" "0" "9486" "0" "c.9486C>T" "r.(?)" "p.(Asp3162=)" "" "" "0000339574" "00000746" "10" "10431" "0" "10431" "0" "c.10431T>C" "r.(?)" "p.(Tyr3477=)" "" "" "0000340929" "00000746" "10" "1899" "0" "1899" "0" "c.1899A>G" "r.(?)" "p.(Pro633=)" "" "" "0000341513" "00000746" "10" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Ala595Thr)" "" "" "0000341735" "00000746" "90" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Ter)" "" "" "0000341957" "00000746" "90" "4519" "0" "4519" "0" "c.4519C>T" "r.(?)" "p.(Arg1507Ter)" "" "" "0000342089" "00000746" "50" "5287" "0" "5287" "0" "c.5287C>T" "r.(?)" "p.(Arg1763Trp)" "" "" "0000342174" "00000746" "50" "5866" "0" "5866" "0" "c.5866C>T" "r.(?)" "p.(Arg1956Trp)" "" "" "0000342321" "00000746" "90" "6892" "0" "6892" "0" "c.6892C>T" "r.(?)" "p.(Arg2298Ter)" "" "" "0000342501" "00000746" "90" "8183" "0" "8183" "0" "c.8183G>A" "r.(?)" "p.(Arg2728His)" "" "" "0000342680" "00000746" "50" "10202" "0" "10202" "0" "c.10202G>A" "r.(?)" "p.(Arg3401His)" "" "" "0000344024" "00000746" "50" "7822" "0" "7822" "0" "c.7822G>A" "r.(?)" "p.(Asp2608Asn)" "" "" "0000344300" "00000746" "10" "5929" "0" "5929" "0" "c.5929T>C" "r.(?)" "p.(Cys1977Arg)" "" "" "0000344609" "00000746" "90" "5326" "0" "5326" "0" "c.5326C>T" "r.(?)" "p.(Gln1776Ter)" "" "" "0000345148" "00000746" "50" "4497" "0" "4497" "0" "c.4497G>T" "r.(?)" "p.(Glu1499Asp)" "" "" "0000345231" "00000746" "90" "625" "0" "625" "0" "c.625G>T" "r.(?)" "p.(Glu209Ter)" "" "" "0000345839" "00000746" "10" "6052" "0" "6052" "0" "c.6052G>A" "r.(?)" "p.(Gly2018Arg)" "" "" "0000345883" "00000746" "70" "6787" "0" "6787" "0" "c.6787G>A" "r.(?)" "p.(Gly2263Ser)" "" "" "0000346091" "00000746" "30" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Gly462Asp)" "" "" "0000346959" "00000746" "90" "5506" "0" "5506" "0" "c.5506del" "r.(?)" "p.(Leu1836CysfsTer13)" "" "" "0000347404" "00000746" "50" "3963" "0" "3963" "0" "c.3963A>C" "r.(?)" "p.(Lys1321Asn)" "" "" "0000347737" "00000746" "30" "3679" "0" "3679" "0" "c.3679A>C" "r.(?)" "p.(Met1227Leu)" "" "" "0000347844" "00000746" "50" "1387" "0" "1387" "0" "c.1387A>G" "r.(?)" "p.(Met463Val)" "" "" "0000348271" "00000746" "70" "6205" "0" "6205" "0" "c.6205C>T" "r.(?)" "p.(Pro2069Ser)" "" "" "0000348316" "00000746" "50" "7499" "0" "7499" "0" "c.7499C>T" "r.(?)" "p.(Pro2500Leu)" "" "" "0000348377" "00000746" "70" "9584" "0" "9584" "0" "c.9584C>G" "r.(?)" "p.(Pro3195Arg)" "" "" "0000348909" "00000746" "50" "8542" "0" "8542" "0" "c.8542T>G" "r.(?)" "p.(Ser2848Ala)" "" "" "0000349845" "00000746" "10" "2152" "0" "2152" "0" "c.2152T>G" "r.(?)" "p.(Trp718Gly)" "" "" "0000350014" "00000746" "10" "8045" "0" "8045" "0" "c.8045A>T" "r.(?)" "p.(Tyr2682Phe)" "" "" "0000350024" "00000746" "90" "8457" "0" "8457" "0" "c.8457C>G" "r.(?)" "p.(Tyr2819Ter)" "" "" "0000350347" "00000746" "50" "5168" "0" "5168" "0" "c.5168T>A" "r.(?)" "p.(Val1723Glu)" "" "" "0000350565" "00000746" "50" "1454" "0" "1454" "0" "c.1454T>C" "r.(?)" "p.(Val485Ala)" "" "" "0000350982" "00000746" "90" "6764" "2" "6764" "2" "c.6764+2T>A" "r.spl?" "p.?" "" "" "0000350983" "00000746" "90" "7893" "1" "7893" "1" "c.7893+1G>A" "r.spl?" "p.?" "" "" "0000350984" "00000746" "50" "8340" "5" "8340" "5" "c.8340+5G>A" "r.spl?" "p.?" "" "" "0000350985" "00000746" "90" "10216" "1" "10216" "1" "c.10216+1G>A" "r.spl?" "p.?" "" "" "0000355084" "00000746" "90" "9083" "6" "9083" "6" "c.9083+6T>A" "r.(8968_9083)del" "p.(=)" "52i" "" "0000367549" "00000746" "99" "-338" "-1" "11525" "1" "c.-338-?_*932+?del" "r.0" "p.0" "_1_66_" "" "0000367550" "00000746" "15" "-76" "0" "-76" "0" "c.-76A>C" "r.(=)" "p.(=)" "2" "" "0000367551" "00000746" "13" "54" "0" "54" "0" "c.54G>A" "r.(?)" "p.(=)" "2" "N-terminal domain (1-1223)" "0000367552" "00000746" "99" "373" "0" "374" "0" "c.373_374del" "r.(?)" "p.(Arg125Valfs*102)" "2" "N-terminal domain (1-1223)" "0000367553" "00000746" "99" "373" "0" "374" "0" "c.373_374del" "r.(?)" "p.(Arg125Valfs*102)" "2" "N-terminal domain (1-1223)" "0000367554" "00000746" "99" "453" "0" "455" "0" "c.453_455delinsTGGACGCCTGGTCGGGCAGTGG" "r.(?)" "p.(Glu152Glyfs*82)" "2" "N-terminal domain (1-1223)" "0000367555" "00000746" "13" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Pro269Leu)" "2" "N-terminal domain (1-1223)" "0000367556" "00000746" "99" "867" "0" "867" "0" "c.867C>G" "r.(?)" "p.(Tyr289*)" "2" "N-terminal domain (1-1223)" "0000367557" "00000746" "99" "1137" "0" "1137" "0" "c.1137del" "r.(?)" "p.(Tyr380Metfs*64)" "2" "N-terminal domain (1-1223)" "0000367558" "00000746" "99" "1179" "0" "1185" "0" "c.1179_1185dup" "r.(?)" "p.(Glu396Profs*38)" "2" "N-terminal domain (1-1223)" "0000367559" "00000746" "99" "1185" "0" "1185" "0" "c.1185dup" "r.(?)" "p.(Glu396Argfs*36)" "2" "N-terminal domain (1-1223)" "0000367560" "00000746" "99" "1185" "0" "1185" "0" "c.1185dup" "r.(?)" "p.(Glu396Argfs*36)" "2" "N-terminal domain (1-1223)" "0000367561" "00000746" "99" "1185" "0" "1185" "0" "c.1185dup" "r.(?)" "p.(Glu396Argfs*36)" "2" "N-terminal domain (1-1223)" "0000367562" "00000746" "95" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Ala408Val)" "2" "N-terminal domain (1-1223)" "0000367563" "00000746" "75" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Ala408Val)" "2" "N-terminal domain (1-1223)" "0000367564" "00000746" "75" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Ala408Val)" "2" "N-terminal domain (1-1223)" "0000367565" "00000746" "13" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Gly462Asp)" "2" "" "0000367566" "00000746" "99" "1387" "0" "1387" "0" "c.1387A>G" "r.(?)" "p.(Met463Val)" "2" "N-terminal domain (1-1223)" "0000367567" "00000746" "35" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(=)" "2" "N-terminal domain (1-1223)" "0000367568" "00000746" "15" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Ala595Thr)" "2" "N-terminal domain (1-1223)" "0000367569" "00000746" "15" "1899" "0" "1899" "0" "c.1899A>G" "r.(?)" "p.(=)" "2" "N-terminal domain (1-1223)" "0000367570" "00000746" "15" "2152" "0" "2152" "0" "c.2152T>G" "r.(?)" "p.(Trp718Gly)" "2" "N-terminal domain (1-1223)" "0000367571" "00000746" "95" "3026" "0" "3026" "0" "c.3026C>A" "r.(?)" "p.(Pro1009His)" "2" "N-terminal domain (1-1223)" "0000367572" "00000746" "99" "3313" "0" "3313" "0" "c.3313G>T" "r.(?)" "p.(Glu1105*)" "2" "N-terminal domain (1-1223)" "0000367573" "00000746" "99" "3336" "0" "3336" "0" "c.3336del" "r.(?)" "p.(Arg1113Valfs*12)" "2" "N-terminal domain (1-1223)" "0000367574" "00000746" "11" "3413" "0" "3413" "0" "c.3413A>G" "r.(?)" "p.(Gln1138Arg)" "2" "N-terminal domain (1-1223)" "0000367575" "00000746" "99" "3505" "0" "3505" "0" "c.3505C>T" "r.(?)" "p.(Arg1169*)" "2" "N-terminal domain (1-1223)" "0000367576" "00000746" "15" "3609" "21" "3609" "21" "c.3609+21C>G" "r.(=)" "p.(=)" "2i" "" "0000367577" "00000746" "15" "3658" "0" "3658" "0" "c.3658G>C" "r.(=)" "p.(Gly1220Arg)" "3" "N-terminal domain (1-1223)" "0000367578" "00000746" "99" "3685" "0" "3685" "0" "c.3685C>T" "r.(?)" "p.(Gln1229*)" "3" "Motor domain (1224-1887)" "0000367579" "00000746" "95" "3756" "1" "3756" "1" "c.3756+1G>T" "r.spl" "p.?" "4i" "" "0000367580" "00000746" "95" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Ile)" "5" "Motor domain (1224-1887)" "0000367581" "00000746" "99" "3866" "1" "3866" "1" "c.3866+1G>A" "r.spl" "p.?" "5i" "" "0000367582" "00000746" "99" "3866" "1" "3866" "1" "c.3866+1G>A" "r.spl" "p.?" "5i" "" "0000367583" "00000746" "99" "3866" "1" "3866" "1" "c.3866+1G>A" "r.spl" "p.?" "5i" "" "0000367584" "00000746" "99" "3866" "1" "3866" "1" "c.3866+1G>A" "r.spl" "p.?" "5i" "" "0000367585" "00000746" "99" "3866" "1" "3866" "1" "c.3866+1G>A" "r.spl" "p.?" "5i" "" "0000367586" "00000746" "99" "3866" "1" "3866" "1" "c.3866+1G>A" "r.spl" "p.?" "5i" "" "0000367587" "00000746" "99" "3866" "1" "3866" "1" "c.3866+1G>A" "r.spl" "p.?" "5i" "" "0000367588" "00000746" "99" "3866" "1" "3866" "1" "c.3866+1G>A" "r.spl" "p.?" "5i" "" "0000367589" "00000746" "95" "3892" "0" "3892" "0" "c.3892G>A" "r.(?)" "p.(Ala1298Thr)" "6" "Motor domain (1224-1887)" "0000367590" "00000746" "99" "4176" "0" "4176" "0" "c.4176C>A" "r.(?)" "p.(Tyr1392*)" "10" "Motor domain (1224-1887)" "0000367591" "00000746" "75" "4193" "0" "4193" "0" "c.4193G>A" "r.(?)" "p.(Arg1398Lys)" "10" "Motor domain (1224-1887)" "0000367592" "00000746" "95" "4198" "0" "4198" "0" "c.4198G>A" "r.(?)" "p.(Val1400Met)" "10" "Motor domain (1224-1887)" "0000367593" "00000746" "75" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Glu1414Lys)" "11" "Motor domain (1224-1887)" "0000367594" "00000746" "75" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Glu1414Lys)" "11" "Motor domain (1224-1887)" "0000367595" "00000746" "75" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Glu1414Lys)" "11" "Motor domain (1224-1887)" "0000367596" "00000746" "75" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Glu1414Lys)" "11" "Motor domain (1224-1887)" "0000367597" "00000746" "75" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Glu1414Lys)" "11" "Motor domain (1224-1887)" "0000367598" "00000746" "99" "4273" "0" "4273" "0" "c.4273C>T" "r.(?)" "p.(Gln1425*)" "11" "" "0000367599" "00000746" "99" "4320" "1" "4320" "1" "c.4320+1G>A" "r.spl" "p.?" "11i" "Motor domain (1224-1887)" "0000367600" "00000746" "95" "4322" "0" "4322" "0" "c.4322G>T" "r.(?)" "p.(Gly1441Val)" "12" "Motor domain (1224-1887)" "0000367601" "00000746" "75" "4322" "0" "4322" "0" "c.4322G>T" "r.(?)" "p.(Gly1441Val)" "12" "Motor domain (1224-1887)" "0000367602" "00000746" "95" "4351" "0" "4351" "0" "c.4351G>A" "r.(?)" "p.(Asp1451Asn)" "12" "Motor domain (1224-1887)" "0000367603" "00000746" "95" "4441" "0" "4441" "0" "c.4441T>C" "r.(?)" "p.(Ser1481Pro)" "12" "Motor domain (1224-1887)" "0000367604" "00000746" "99" "4441" "0" "4441" "0" "c.4441T>C" "r.(?)" "p.(Ser1481Pro)" "12" "Motor domain (1224-1887)" "0000367605" "00000746" "99" "4652" "0" "4652" "0" "c.4652C>A" "r.(?)" "p.(Ala1551Asp)" "14" "Motor domain (1224-1887)" "0000367606" "00000746" "13" "4655" "11" "4655" "11" "c.4655+11G>A" "r.(=)" "p.(=)" "14i" "" "0000367607" "00000746" "95" "4669" "0" "4669" "0" "c.4669A>G" "r.(?)" "p.(Lys1557Glu)" "15" "Motor domain (1224-1887)" "0000367608" "00000746" "95" "4777" "0" "4777" "0" "c.4777G>A" "r.(?)" "p.(Glu1593Lys)" "15" "Motor domain (1224-1887)" "0000367609" "00000746" "99" "4779" "2" "4779" "2" "c.4779+2T>C" "r.spl" "p.?" "15i" "" "0000367610" "00000746" "95" "4898" "0" "4898" "0" "c.4898T>C" "r.(?)" "p.(Ile1633Thr)" "17" "Motor domain (1224-1887)" "0000367611" "00000746" "99" "4909" "0" "4911" "0" "c.4909_4911del" "r.(?)" "p.(Glu1637del)" "17" "Motor domain (1224-1887)" "0000367612" "00000746" "99" "4998" "0" "4998" "0" "c.4998C>A" "r.(?)" "p.(Cys1666*)" "17" "Motor domain (1224-1887)" "0000367613" "00000746" "99" "5117" "0" "5118" "0" "c.5117_5118del" "r.(?)" "p.(Gly1706Glufs*102)" "18" "Motor domain (1224-1887)" "0000367614" "00000746" "13" "5133" "15" "5133" "15" "c.5133+15A>G" "r.(=)" "p.(=)" "18i" "" "0000367615" "00000746" "95" "5189" "0" "5189" "0" "c.5189T>C" "r.(?)" "p.(Leu1730Pro)" "19" "Motor domain (1224-1887)" "0000367616" "00000746" "99" "5305" "0" "5305" "0" "c.5305A>G" "r.(?)" "p.(Thr1769Ala)" "20" "Motor domain (1224-1887)" "0000367617" "00000746" "75" "5417" "0" "5417" "0" "c.5417T>C" "r.(?)" "p.(Leu1806Pro)" "22" "Motor domain (1224-1887)" "0000367618" "00000746" "55" "5417" "0" "5417" "0" "c.5417T>C" "r.(?)" "p.(Leu1806Pro)" "22" "Motor domain (1224-1887)" "0000367619" "00000746" "99" "5419" "-21" "5419" "-21" "c.5419-21del" "r.(?)" "p.(phe1807leufsX6)" "22" "Motor domain (1224-1887)" "0000367620" "00000746" "95" "5492" "0" "5492" "0" "c.5492G>T" "r.(?)" "p.(Gly1831Val)" "22" "Motor domain (1224-1887)" "0000367621" "00000746" "99" "5808" "0" "5814" "0" "c.5808_5814del" "r.(?)" "p.(Arg1937Thrfs*10)" "24" "IQ 2 (1925-1954)" "0000367622" "00000746" "99" "5808" "0" "5814" "0" "c.5808_5814del" "r.(?)" "p.(Arg1937Thrfs*10)" "24" "IQ 2 (1925-1954)" "0000367623" "00000746" "99" "5808" "0" "5814" "0" "c.5808_5814del" "r.(?)" "p.(Arg1937Thrfs*10)" "24" "IQ 2 (1925-1954)" "0000367624" "00000746" "99" "5810" "0" "5810" "0" "c.5810G>A" "r.(?)" "p.(Arg1937His)" "24" "Motor domain (1224-1887)" "0000367625" "00000746" "15" "5826" "-12" "5826" "-12" "c.5826-12A>C" "r.(=)" "p.(=)" "24i" "" "0000367626" "00000746" "99" "5913" "0" "5913" "0" "c.5913G>A" "r.spl" "p.(Leu1971=)" "25" "" "0000367627" "00000746" "99" "5925" "0" "5925" "0" "c.5925G>A" "r.(?)" "p.(Trp1975*)" "26" "IQ 1 (1902-1924)" "0000367628" "00000746" "15" "5929" "0" "5929" "0" "c.5929T>C" "r.(?)" "p.(Cys1977Arg)" "26" "" "0000367629" "00000746" "95" "6046" "1" "6046" "1" "c.6046+1G>A" "r.spl" "p.?" "27i" "" "0000367630" "00000746" "11" "6052" "0" "6052" "0" "c.6052G>A" "r.(?)" "p.(Gly2018Arg)" "28" "" "0000367631" "00000746" "99" "6061" "0" "6061" "0" "c.6061C>T" "r.(?)" "p.(Gln2021*)" "28" "" "0000367632" "00000746" "95" "6217" "0" "6217" "0" "c.6217C>T" "r.(?)" "p.(Pro2073Ser)" "29" "MyTH4 1 (2065-2217)" "0000367633" "00000746" "99" "6437" "0" "6437" "0" "c.6437G>A" "r.(?)" "p.(Arg2146Gln)" "29" "MyTH4 1 (2065-2217)" "0000367634" "00000746" "75" "6482" "0" "6482" "0" "c.6482C>T" "r.(=)" "p.(Ser2161Phe)" "29" "MyTH4 1 (2065-2217)" "0000367635" "00000746" "99" "6308" "0" "6308" "0" "c.6308dup" "r.(?)" "p.(Ala2104Cysfs*19)" "30" "MyTH4 1 (2065-2217)" "0000367636" "00000746" "75" "6332" "0" "6332" "0" "c.6332A>T" "r.(?)" "p.(Asn2111Ile)" "30" "MyTH4 1 (2065-2217)" "0000367637" "00000746" "75" "6332" "0" "6332" "0" "c.6332A>T" "r.(?)" "p.(Asn2111Ile)" "30" "MyTH4 1 (2065-2217)" "0000367638" "00000746" "75" "6332" "0" "6332" "0" "c.6332A>T" "r.(?)" "p.(Asn2111Ile)" "30" "MyTH4 1 (2065-2217)" "0000367639" "00000746" "75" "6332" "0" "6332" "0" "c.6332A>T" "r.(?)" "p.(Asn2111Ile)" "30" "MyTH4 1 (2065-2217)" "0000367640" "00000746" "75" "6337" "0" "6337" "0" "c.6337A>T" "r.(?)" "p.(Ile2113Phe)" "30" "MyTH4 1 (2065-2217)" "0000367641" "00000746" "75" "6337" "0" "6337" "0" "c.6337A>T" "r.(?)" "p.(Ile2113Phe)" "30" "MyTH4 1 (2065-2217)" "0000367642" "00000746" "75" "6337" "0" "6337" "0" "c.6337A>T" "r.(?)" "p.(Ile2113Phe)" "30" "MyTH4 1 (2065-2217)" "0000367643" "00000746" "75" "6337" "0" "6337" "0" "c.6337A>T" "r.(?)" "p.(Ile2113Phe)" "30" "MyTH4 1 (2065-2217)" "0000367644" "00000746" "75" "6337" "0" "6337" "0" "c.6337A>T" "r.(?)" "p.(Ile2113Phe)" "30" "MyTH4 1 (2065-2217)" "0000367645" "00000746" "75" "6337" "0" "6337" "0" "c.6337A>T" "r.(?)" "p.(Ile2113Phe)" "30" "MyTH4 1 (2065-2217)" "0000367646" "00000746" "75" "6340" "0" "6340" "0" "c.6340G>A" "r.(?)" "p.(Val2114Met)" "30" "MyTH4 1 (2065-2217)" "0000367647" "00000746" "95" "6371" "0" "6371" "0" "c.6371G>A" "r.(?)" "p.(Arg2124Gln)" "30" "MyTH4 1 (2065-2217)" "0000367648" "00000746" "35" "6614" "0" "6614" "0" "c.6614C>T" "r.(?)" "p.(Thr2205Ile)" "31" "MyTH4 1 (2065-2217)" "0000367649" "00000746" "75" "6614" "0" "6614" "0" "c.6614C>T" "r.(?)" "p.(Thr2205Ile)" "31" "MyTH4 1 (2065-2217)" "0000367650" "00000746" "99" "6710" "0" "6710" "0" "c.6710dup" "r.(?)" "p.(Val2238Glyfs*92)" "32" "" "0000367651" "00000746" "95" "6731" "0" "6731" "0" "c.6731G>A" "r.(?)" "p.(Gly2244Glu)" "32" "" "0000367652" "00000746" "55" "6796" "0" "6796" "0" "c.6796G>A" "r.(?)" "p.(Val2266Met)" "33" "" "0000367653" "00000746" "55" "6796" "0" "6796" "0" "c.6796G>A" "r.(?)" "p.(Val2266Met)" "33" "" "0000367654" "00000746" "75" "6956" "9" "6956" "9" "c.6956+9C>G" "r.(=)" "p.(=)" "33i" "" "0000367655" "00000746" "75" "6956" "9" "6956" "9" "c.6956+9C>G" "r.(=)" "p.(=)" "33i" "" "0000367656" "00000746" "99" "7124" "0" "7127" "0" "c.7124_7127del" "r.(?)" "p.(Asp2375Valfs*41)" "35" "" "0000367657" "00000746" "15" "7185" "0" "7185" "0" "c.7185T>C" "r.(?)" "p.(=)" "35" "" "0000367658" "00000746" "15" "7185" "0" "7185" "0" "c.7185T>C" "r.(?)" "p.(=)" "35" "" "0000367659" "00000746" "99" "7207" "0" "7207" "0" "c.7207G>T" "r.7206_7218del" "p.Asp2403Thrfs*12" "35" "" "0000367660" "00000746" "99" "7207" "0" "7207" "0" "c.7207G>T" "r.7206_7218del" "p.Asp2403Thrfs*12" "35" "" "0000367661" "00000746" "99" "7207" "0" "7207" "0" "c.7207G>T" "r.7206_7218del" "p.Asp2403Thrfs*12" "35" "" "0000367662" "00000746" "99" "7207" "0" "7207" "0" "c.7207G>T" "r.7206_7218del" "p.Asp2403Thrfs*12" "35" "" "0000367663" "00000746" "99" "7207" "0" "7207" "0" "c.7207G>T" "r.7206_7218del" "p.Asp2403Thrfs*12" "35" "" "0000367664" "00000746" "99" "7207" "0" "7207" "0" "c.7207G>T" "r.7206_7218del" "p.Asp2403Thrfs*12" "35" "" "0000367665" "00000746" "99" "7207" "0" "7207" "0" "c.7207G>T" "r.7206_7218del" "p.Asp2403Thrfs*12" "35" "" "0000367666" "00000746" "75" "7395" "3" "7395" "3" "c.7395+3G>A" "r.spl?" "p.?" "37i" "" "0000367667" "00000746" "55" "7395" "3" "7395" "3" "c.7395+3G>C" "r.spl?" "p.?" "37i" "" "0000367668" "00000746" "13" "7468" "0" "7468" "0" "c.7468G>A" "r.(?)" "p.(Ala2490Thr)" "38" "" "0000367669" "00000746" "99" "7801" "0" "7801" "0" "c.7801A>T" "r.(?)" "p.(Lys2601*)" "41" "" "0000367670" "00000746" "99" "7801" "0" "7801" "0" "c.7801A>T" "r.(?)" "p.(Lys2601*)" "41" "" "0000367671" "00000746" "99" "7801" "0" "7801" "0" "c.7801A>T" "r.(?)" "p.(Lys2601*)" "41" "" "0000367672" "00000746" "99" "7801" "0" "7801" "0" "c.7801A>T" "r.(?)" "p.(Lys2601*)" "41" "" "0000367673" "00000746" "99" "7801" "0" "7801" "0" "c.7801A>T" "r.(?)" "p.(Lys2601*)" "41" "" "0000367674" "00000746" "15" "7857" "0" "7857" "0" "c.7857G>A" "r.(?)" "p.(=)" "41" "" "0000367675" "00000746" "13" "7908" "0" "7908" "0" "c.7908C>T" "r.(?)" "p.(=)" "42" "" "0000367676" "00000746" "99" "7982" "0" "7982" "0" "c.7982C>A" "r.(?)" "p.(Ser2661*)" "43" "" "0000367677" "00000746" "15" "8088" "5" "8088" "5" "c.8088+5C>G" "r.spl?" "p.?" "43i" "" "0000367678" "00000746" "95" "8148" "0" "8148" "0" "c.8148G>T" "r.(?)" "p.(Gln2716His)" "44" "" "0000367679" "00000746" "95" "8158" "0" "8158" "0" "c.8158G>C" "r.(?)" "p.(Asp2720His)" "45" "" "0000367680" "00000746" "95" "8158" "0" "8158" "0" "c.8158G>C" "r.(?)" "p.(Asp2720His)" "45" "" "0000367681" "00000746" "95" "8158" "0" "8158" "0" "c.8158G>C" "r.(?)" "p.(Asp2720His)" "45" "" "0000367682" "00000746" "95" "8158" "0" "8158" "0" "c.8158G>C" "r.(?)" "p.(Asp2720His)" "45" "" "0000367683" "00000746" "75" "8183" "0" "8183" "0" "c.8183G>A" "r.(?)" "p.(Arg2728His)" "45" "" "0000367684" "00000746" "75" "8183" "0" "8183" "0" "c.8183G>A" "r.(?)" "p.(Arg2728His)" "45" "" "0000367685" "00000746" "75" "8183" "0" "8183" "0" "c.8183G>A" "r.(?)" "p.(Arg2728His)" "45" "" "0000367686" "00000746" "75" "8222" "0" "8222" "0" "c.8222T>C" "r.(?)" "p.(Phe2741Ser)" "45" "" "0000367687" "00000746" "75" "8222" "0" "8222" "0" "c.8222T>C" "r.(?)" "p.(Phe2741Ser)" "45" "" "0000367688" "00000746" "75" "8222" "0" "8222" "0" "c.8222T>C" "r.(?)" "p.(Phe2741Ser)" "45" "" "0000367689" "00000746" "75" "8222" "0" "8222" "0" "c.8222T>C" "r.(?)" "p.(Phe2741Ser)" "45" "" "0000367690" "00000746" "75" "8222" "0" "8222" "0" "c.8222T>C" "r.(?)" "p.(Phe2741Ser)" "45" "" "0000367691" "00000746" "75" "8324" "0" "8324" "0" "c.8324G>A" "r.(?)" "p.(Arg2775His)" "46" "" "0000367692" "00000746" "95" "8340" "0" "8340" "0" "c.8340G>A" "r.(?)" "p.(?)" "46" "" "0000367693" "00000746" "99" "8375" "0" "8375" "0" "c.8375T>C" "r.(?)" "p.(Val2792Ala)" "47" "FERM (3209-3530)" "0000367694" "00000746" "99" "8433" "0" "8433" "0" "c.8433del" "r.(?)" "p.(Gln2812Serfs*16)" "47" "" "0000367695" "00000746" "95" "8450" "0" "8450" "0" "c.8450G>A" "r.(?)" "p.(Arg2817His)" "47" "" "0000367696" "00000746" "95" "8467" "0" "8467" "0" "c.8467G>A" "r.(?)" "p.(Asp2823Asn)" "47" "" "0000367697" "00000746" "75" "8467" "0" "8467" "0" "c.8467G>A" "r.(?)" "p.(Asp2823Asn)" "47" "" "0000367698" "00000746" "99" "8467" "0" "8467" "0" "c.8467G>A" "r.(?)" "p.(Asp2823Asn)" "48" "FERM (3209-3530)" "0000367699" "00000746" "99" "8707" "0" "8707" "0" "c.8707C>T" "r.(?)" "p.(Arg2903*)" "49" "SH3 (2867-2953)" "0000367700" "00000746" "99" "8767" "0" "8767" "0" "c.8767C>T" "r.(?)" "p.(Arg2923*)" "50" "SH3 (2867-2953)" "0000367701" "00000746" "99" "8767" "0" "8767" "0" "c.8767C>T" "r.(?)" "p.(Arg2923*)" "50" "SH3 (2867-2953)" "0000367702" "00000746" "99" "8767" "0" "8767" "0" "c.8767C>T" "r.(?)" "p.(Arg2923*)" "50" "SH3 (2867-2953)" "0000367703" "00000746" "99" "8821" "0" "8822" "0" "c.8821_8822insTG" "r.(?)" "p.(Gly2941Valfs*94)" "51" "SH3 (2867-2953)" "0000367704" "00000746" "95" "8968" "-1" "8968" "-1" "c.8968-1G>C" "r.spl" "p.?" "51" "" "0000367705" "00000746" "95" "9083" "6" "9083" "6" "c.9083+6T>A" "r.(?)" "p.(?)" "52i" "" "0000367706" "00000746" "99" "9229" "1" "9229" "1" "c.9229+1G>T" "r.spl" "p.?" "54i" "" "0000367707" "00000746" "53" "9478" "0" "9478" "0" "c.9478C>T" "r.(?)" "p.(Leu3160Phe)" "57" "MyTH4 2 (3050-3204)" "0000367708" "00000746" "53" "9478" "0" "9478" "0" "c.9478C>T" "r.(?)" "p.(Leu3160Phe)" "57" "MyTH4 2 (3050-3204)" "0000367709" "00000746" "33" "9478" "0" "9478" "0" "c.9478C>T" "r.(?)" "p.(Leu3160Phe)" "57" "MyTH4 2 (3050-3204)" "0000367710" "00000746" "53" "9478" "0" "9478" "0" "c.9478C>T" "r.(?)" "p.(Leu3160Phe)" "57" "MyTH4 2 (3050-3204)" "0000367711" "00000746" "53" "9478" "0" "9478" "0" "c.9478C>T" "r.(?)" "p.(Leu3160Phe)" "57" "MyTH4 2 (3050-3204)" "0000367712" "00000746" "53" "9478" "0" "9478" "0" "c.9478C>T" "r.(?)" "p.(Leu3160Phe)" "57" "MyTH4 2 (3050-3204)" "0000367713" "00000746" "15" "9486" "0" "9486" "0" "c.9486C>T" "r.(?)" "p.(=)" "57" "MyTH4 2 (3050-3204)" "0000367714" "00000746" "75" "9948" "0" "9948" "0" "c.9948G>A" "r.(?)" "p.(Glu3264Profs*3)" "61" "FERM (3209-3530)" "0000367715" "00000746" "75" "9948" "0" "9948" "0" "c.9948G>A" "r.(?)" "p.(Glu3264Profs*3)" "61" "FERM (3209-3530)" "0000367716" "00000746" "75" "9948" "0" "9948" "0" "c.9948G>A" "r.(?)" "p.(Glu3264Profs*3)" "61" "FERM (3209-3530)" "0000367717" "00000746" "75" "9948" "0" "9948" "0" "c.9948G>A" "r.(?)" "p.(Glu3264Profs*3)" "61" "FERM (3209-3530)" "0000367718" "00000746" "99" "9958" "0" "9961" "0" "c.9958_9961del" "r.(?)" "p.(Asp3320Thrfs*2)" "62" "FERM (3209-3530)" "0000367719" "00000746" "99" "9995" "0" "10002" "0" "c.9995_10002dup" "r.(?)" "p.(Ser3335Alafs*121)" "62" "FERM (3209-3530)" "0000367720" "00000746" "99" "9995" "0" "10002" "0" "c.9995_10002dup" "r.(?)" "p.(Ser3335Alafs*121)" "62" "FERM (3209-3530)" "0000367721" "00000746" "13" "10182" "0" "10182" "0" "c.10182G>A" "r.(=)" "p.(=)" "63" "FERM (3209-3530)" "0000367722" "00000746" "13" "10242" "0" "10242" "0" "c.10242C>T" "r.(?)" "p.(?)" "64" "FERM (3209-3530)" "0000367723" "00000746" "75" "10258" "0" "10260" "0" "c.10258_10260del" "r.(?)" "p.(Phe3420del)" "64" "FERM (3209-3530)" "0000367724" "00000746" "75" "10263" "0" "10263" "0" "c.10263C>G" "r.(?)" "p.(Ile3421Met)" "64" "FERM (3209-3530)" "0000367725" "00000746" "99" "10425" "0" "10425" "0" "c.10425C>A" "r.(?)" "p.(Tyr3475*)" "65" "FERM (3209-3530)" "0000367726" "00000746" "99" "10474" "0" "10474" "0" "c.10474C>T" "r.(?)" "p.(Gln3492*)" "65" "FERM (3209-3530)" "0000367727" "00000746" "99" "10573" "0" "10573" "0" "c.10573del" "r.(?)" "p.(Ser3525Alafs*29)" "66" "FERM (3209-3530)" "0000367728" "00000746" "99" "10573" "0" "10573" "0" "c.10573del" "r.(?)" "p.(Ser3525Alafs*29)" "66" "FERM (3209-3530)" "0000367729" "00000746" "99" "10573" "0" "10573" "0" "c.10573del" "r.(?)" "p.(Ser3525Alafs*29)" "66" "FERM (3209-3530)" "0000560552" "00000746" "30" "54" "0" "54" "0" "c.54G>A" "r.(?)" "p.(Lys18=)" "" "" "0000560554" "00000746" "30" "381" "0" "381" "0" "c.381C>G" "r.(?)" "p.(Leu127=)" "" "" "0000560555" "00000746" "50" "712" "0" "712" "0" "c.712T>G" "r.(?)" "p.(Tyr238Asp)" "" "" "0000560556" "00000746" "50" "766" "0" "766" "0" "c.766G>A" "r.(?)" "p.(Glu256Lys)" "" "" "0000560557" "00000746" "50" "1634" "0" "1634" "0" "c.1634C>T" "r.(?)" "p.(Ala545Val)" "" "" "0000560558" "00000746" "10" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Ala595Thr)" "" "" "0000560559" "00000746" "10" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Ala595Thr)" "" "" "0000560560" "00000746" "50" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Gly623Ser)" "" "" "0000560561" "00000746" "30" "1941" "0" "1941" "0" "c.1941A>C" "r.(?)" "p.(Pro647=)" "" "" "0000560562" "00000746" "30" "2418" "0" "2418" "0" "c.2418C>T" "r.(?)" "p.(Phe806=)" "" "" "0000560563" "00000746" "90" "2471" "0" "2471" "0" "c.2471del" "r.(?)" "p.(Pro824GlnfsTer39)" "" "" "0000560564" "00000746" "10" "2680" "0" "2680" "0" "c.2680C>T" "r.(?)" "p.(Pro894Ser)" "" "" "0000560566" "00000746" "10" "3026" "0" "3026" "0" "c.3026C>A" "r.(?)" "p.(Pro1009His)" "" "" "0000560567" "00000746" "30" "3139" "0" "3139" "0" "c.3139C>T" "r.(?)" "p.(Pro1047Ser)" "" "" "0000560568" "00000746" "30" "3359" "0" "3359" "0" "c.3359G>A" "r.(?)" "p.(Arg1120His)" "" "" "0000560570" "00000746" "10" "3756" "0" "3756" "0" "c.3756C>T" "r.(?)" "p.(Tyr1252=)" "" "" "0000560572" "00000746" "30" "4033" "0" "4033" "0" "c.4033A>T" "r.(?)" "p.(Ile1345Leu)" "" "" "0000560573" "00000746" "30" "4038" "52" "4038" "61" "c.4038+52_4038+61del" "r.(=)" "p.(=)" "" "" "0000560575" "00000746" "30" "4038" "54" "4038" "61" "c.4038+54_4038+61dup" "r.(=)" "p.(=)" "" "" "0000560576" "00000746" "30" "4038" "56" "4038" "61" "c.4038+56_4038+61del" "r.(=)" "p.(=)" "" "" "0000560577" "00000746" "10" "4038" "56" "4038" "61" "c.4038+56_4038+61dup" "r.(=)" "p.(=)" "" "" "0000560578" "00000746" "30" "4038" "58" "4038" "61" "c.4038+58_4038+61del" "r.(=)" "p.(=)" "" "" "0000560579" "00000746" "30" "4038" "58" "4038" "61" "c.4038+58_4038+61dup" "r.(=)" "p.(=)" "" "" "0000560581" "00000746" "50" "4261" "0" "4261" "0" "c.4261G>A" "r.(?)" "p.(Ala1421Thr)" "" "" "0000560582" "00000746" "90" "4321" "-2" "4321" "-2" "c.4321-2A>T" "r.spl?" "p.?" "" "" "0000560583" "00000746" "50" "4424" "0" "4424" "0" "c.4424T>C" "r.(?)" "p.(Ile1475Thr)" "" "" "0000560584" "00000746" "50" "4660" "0" "4660" "0" "c.4660G>A" "r.(?)" "p.(Ala1554Thr)" "" "" "0000560585" "00000746" "50" "4777" "0" "4777" "0" "c.4777G>A" "r.(?)" "p.(Glu1593Lys)" "" "" "0000560586" "00000746" "50" "4888" "0" "4888" "0" "c.4888C>T" "r.(?)" "p.(Arg1630Cys)" "" "" "0000560587" "00000746" "90" "5007" "1" "5007" "1" "c.5007+1G>C" "r.spl?" "p.?" "" "" "0000560588" "00000746" "30" "5281" "0" "5281" "0" "c.5281G>A" "r.(?)" "p.(Val1761Ile)" "" "" "0000560589" "00000746" "50" "5287" "0" "5287" "0" "c.5287C>T" "r.(?)" "p.(Arg1763Trp)" "" "" "0000560590" "00000746" "30" "5360" "3" "5360" "3" "c.5360+3G>C" "r.spl?" "p.?" "" "" "0000560591" "00000746" "70" "5417" "0" "5417" "0" "c.5417T>C" "r.(?)" "p.(Leu1806Pro)" "" "" "0000560592" "00000746" "90" "5515" "0" "5515" "0" "c.5515C>T" "r.(?)" "p.(Gln1839Ter)" "" "" "0000560593" "00000746" "50" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Ala1961Thr)" "" "" "0000560594" "00000746" "90" "5896" "0" "5896" "0" "c.5896C>T" "r.(?)" "p.(Arg1966Ter)" "" "" "0000560595" "00000746" "90" "5925" "0" "5925" "0" "c.5925G>A" "r.(?)" "p.(Trp1975Ter)" "" "" "0000560596" "00000746" "50" "5964" "5" "5964" "5" "c.5964+5del" "r.spl?" "p.?" "" "" "0000560597" "00000746" "30" "6033" "0" "6033" "0" "c.6033G>A" "r.(?)" "p.(Leu2011=)" "" "" "0000560598" "00000746" "30" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Cys)" "" "" "0000560599" "00000746" "30" "6186" "0" "6186" "0" "c.6186C>A" "r.(?)" "p.(Ala2062=)" "" "" "0000560600" "00000746" "50" "6398" "0" "6398" "0" "c.6398A>G" "r.(?)" "p.(Asn2133Ser)" "" "" "0000560601" "00000746" "50" "6698" "0" "6698" "0" "c.6698A>G" "r.(?)" "p.(Gln2233Arg)" "" "" "0000560602" "00000746" "50" "6722" "0" "6722" "0" "c.6722G>C" "r.(?)" "p.(Trp2241Ser)" "" "" "0000560604" "00000746" "70" "7654" "5" "7654" "5" "c.7654+5G>A" "r.spl?" "p.?" "" "" "0000560605" "00000746" "50" "7791" "0" "7791" "0" "c.7791G>A" "r.(?)" "p.(Lys2597=)" "" "" "0000560606" "00000746" "50" "7984" "0" "7984" "0" "c.7984C>G" "r.(?)" "p.(Leu2662Val)" "" "" "0000560607" "00000746" "70" "8090" "0" "8090" "0" "c.8090T>C" "r.(?)" "p.(Val2697Ala)" "" "" "0000560608" "00000746" "90" "8306" "0" "8306" "0" "c.8306G>A" "r.(?)" "p.(Trp2769Ter)" "" "" "0000560609" "00000746" "50" "8708" "0" "8708" "0" "c.8708G>A" "r.(?)" "p.(Arg2903Gln)" "" "" "0000560610" "00000746" "90" "8767" "0" "8767" "0" "c.8767C>T" "r.(?)" "p.(Arg2923Ter)" "" "" "0000560611" "00000746" "30" "8862" "0" "8862" "0" "c.8862C>G" "r.(?)" "p.(Pro2954=)" "" "" "0000560612" "00000746" "50" "8911" "0" "8911" "0" "c.8911G>A" "r.(?)" "p.(Val2971Met)" "" "" "0000560613" "00000746" "50" "9190" "0" "9190" "0" "c.9190G>C" "r.(?)" "p.(Asp3064His)" "" "" "0000560614" "00000746" "50" "9408" "0" "9408" "0" "c.9408G>C" "r.(?)" "p.(Trp3136Cys)" "" "" "0000560615" "00000746" "70" "9572" "0" "9572" "0" "c.9572G>A" "r.(?)" "p.(Arg3191His)" "" "" "0000560616" "00000746" "50" "9913" "0" "9913" "0" "c.9913G>A" "r.(?)" "p.(Glu3305Lys)" "" "" "0000560617" "00000746" "50" "9997" "0" "9997" "0" "c.9997C>T" "r.(?)" "p.(Arg3333Trp)" "" "" "0000560618" "00000746" "90" "10082" "1" "10082" "1" "c.10082+1G>A" "r.spl?" "p.?" "" "" "0000560619" "00000746" "30" "10121" "0" "10121" "0" "c.10121G>A" "r.(?)" "p.(Arg3374His)" "" "" "0000560620" "00000746" "50" "10201" "0" "10201" "0" "c.10201C>T" "r.(?)" "p.(Arg3401Cys)" "" "" "0000560621" "00000746" "50" "10216" "1" "10216" "1" "c.10216+1G>A" "r.spl?" "p.?" "" "" "0000560622" "00000746" "30" "10350" "52" "10350" "52" "c.10350+52C>G" "r.(=)" "p.(=)" "" "" "0000560623" "00000746" "50" "10420" "0" "10420" "0" "c.10420A>G" "r.(?)" "p.(Ser3474Gly)" "" "" "0000616387" "00000746" "50" "665" "0" "665" "0" "c.665C>G" "r.(?)" "p.(Ser222Trp)" "" "" "0000616388" "00000746" "50" "823" "0" "823" "0" "c.823G>C" "r.(?)" "p.(Gly275Arg)" "" "" "0000616389" "00000746" "50" "1266" "0" "1266" "0" "c.1266C>A" "r.(?)" "p.(His422Gln)" "" "" "0000616390" "00000746" "50" "1721" "0" "1721" "0" "c.1721G>C" "r.(?)" "p.(Arg574Pro)" "" "" "0000616391" "00000746" "50" "2215" "0" "2215" "0" "c.2215C>G" "r.(?)" "p.(Pro739Ala)" "" "" "0000616392" "00000746" "50" "2597" "0" "2597" "0" "c.2597C>G" "r.(?)" "p.(Ser866Trp)" "" "" "0000616393" "00000746" "30" "2642" "0" "2642" "0" "c.2642G>A" "r.(?)" "p.(Arg881Gln)" "" "" "0000616394" "00000746" "10" "2790" "0" "2790" "0" "c.2790C>T" "r.(?)" "p.(Asp930=)" "" "" "0000616395" "00000746" "30" "2806" "0" "2806" "0" "c.2806A>C" "r.(?)" "p.(Thr936Pro)" "" "" "0000616396" "00000746" "50" "2810" "0" "2810" "0" "c.2810A>C" "r.(?)" "p.(Gln937Pro)" "" "" "0000616397" "00000746" "50" "2813" "0" "2813" "0" "c.2813G>C" "r.(?)" "p.(Arg938Pro)" "" "" "0000616398" "00000746" "30" "2817" "0" "2817" "0" "c.2817A>C" "r.(?)" "p.(Pro939=)" "" "" "0000616399" "00000746" "30" "3774" "0" "3774" "0" "c.3774C>T" "r.(?)" "p.(Ile1258=)" "" "" "0000616400" "00000746" "10" "4038" "60" "4038" "61" "c.4038+60_4038+61del" "r.(=)" "p.(=)" "" "" "0000616401" "00000746" "10" "4038" "60" "4038" "61" "c.4038+60_4038+61dup" "r.(=)" "p.(=)" "" "" "0000616402" "00000746" "50" "4096" "0" "4098" "0" "c.4096_4098del" "r.(?)" "p.(Asp1366del)" "" "" "0000616403" "00000746" "30" "4548" "0" "4548" "0" "c.4548G>A" "r.(?)" "p.(Leu1516=)" "" "" "0000616404" "00000746" "50" "5754" "0" "5754" "0" "c.5754T>G" "r.(?)" "p.(Ile1918Met)" "" "" "0000616405" "00000746" "50" "5920" "0" "5920" "0" "c.5920G>C" "r.(?)" "p.(Glu1974Gln)" "" "" "0000616406" "00000746" "50" "6560" "0" "6560" "0" "c.6560G>A" "r.(?)" "p.(Arg2187His)" "" "" "0000616407" "00000746" "50" "6580" "0" "6580" "0" "c.6580C>T" "r.(?)" "p.(Arg2194Trp)" "" "" "0000616408" "00000746" "30" "6633" "0" "6633" "0" "c.6633C>T" "r.(?)" "p.(Leu2211=)" "" "" "0000616409" "00000746" "90" "6764" "2" "6764" "2" "c.6764+2T>A" "r.spl?" "p.?" "" "" "0000616410" "00000746" "70" "6787" "0" "6787" "0" "c.6787G>A" "r.(?)" "p.(Gly2263Ser)" "" "" "0000616411" "00000746" "30" "6967" "0" "6967" "0" "c.6967A>G" "r.(?)" "p.(Asn2323Asp)" "" "" "0000616412" "00000746" "90" "7124" "0" "7127" "0" "c.7124_7127del" "r.(?)" "p.(Asp2375ValfsTer41)" "" "" "0000616413" "00000746" "50" "7873" "0" "7873" "0" "c.7873G>A" "r.(?)" "p.(Ala2625Thr)" "" "" "0000616414" "00000746" "30" "7893" "6" "7893" "6" "c.7893+6G>T" "r.(=)" "p.(=)" "" "" "0000616415" "00000746" "50" "8047" "0" "8047" "0" "c.8047G>A" "r.(?)" "p.(Gly2683Ser)" "" "" "0000616417" "00000746" "30" "9436" "0" "9436" "0" "c.9436C>T" "r.(?)" "p.(His3146Tyr)" "" "" "0000616418" "00000746" "30" "9921" "0" "9921" "0" "c.9921G>A" "r.(?)" "p.(Glu3307=)" "" "" "0000616419" "00000746" "30" "9998" "0" "9998" "0" "c.9998G>A" "r.(?)" "p.(Arg3333Gln)" "" "" "0000623634" "00000746" "50" "9160" "0" "9160" "0" "c.9160C>G" "r.(?)" "p.(Pro3054Ala)" "" "" "0000649509" "00000746" "30" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Asp237Asn)" "" "" "0000649510" "00000746" "10" "3026" "0" "3026" "0" "c.3026C>A" "r.(?)" "p.(Pro1009His)" "" "" "0000649511" "00000746" "30" "6614" "0" "6614" "0" "c.6614C>T" "r.(?)" "p.(Thr2205Ile)" "" "" "0000649512" "00000746" "50" "7503" "0" "7503" "0" "c.7503G>A" "r.(=)" "p.(=)" "" "" "0000649513" "00000746" "90" "7893" "1" "7893" "1" "c.7893+1G>A" "r.spl?" "p.?" "" "" "0000659647" "00000746" "70" "5504" "0" "5504" "0" "c.5504G>A" "r.(?)" "p.(Arg1835His)" "" "" "0000669386" "00000746" "30" "6614" "0" "6614" "0" "c.6614C>T" "r.(?)" "p.(Thr2205Ile)" "" "" "0000680800" "00000746" "90" "1137" "0" "1137" "0" "c.1137del" "r.(?)" "p.(Tyr380MetfsTer64)" "" "" "0000680801" "00000746" "30" "1845" "0" "1845" "0" "c.1845T>C" "r.(?)" "p.(Ala615=)" "" "" "0000680802" "00000746" "30" "3909" "0" "3909" "0" "c.3909C>T" "r.(?)" "p.(Leu1303=)" "" "" "0000680803" "00000746" "90" "5683" "0" "5683" "0" "c.5683G>T" "r.(?)" "p.(Glu1895Ter)" "" "" "0000680804" "00000746" "50" "7396" "-8" "7396" "-8" "c.7396-8C>G" "r.(=)" "p.(=)" "" "" "0000680805" "00000746" "50" "9784" "0" "9784" "0" "c.9784C>T" "r.(?)" "p.(Arg3262Cys)" "" "" "0000680806" "00000746" "50" "10237" "0" "10237" "0" "c.10237A>G" "r.(?)" "p.(Met3413Val)" "" "" "0000692277" "00000746" "50" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Gly442Ser)" "" "" "0000692278" "00000746" "30" "2535" "0" "2535" "0" "c.2535G>A" "r.(?)" "p.(Arg845=)" "" "" "0000692279" "00000746" "50" "2575" "0" "2575" "0" "c.2575C>T" "r.(?)" "p.(Arg859Cys)" "" "" "0000692280" "00000746" "30" "3657" "0" "3657" "0" "c.3657C>T" "r.(?)" "p.(His1219=)" "" "" "0000692281" "00000746" "30" "7473" "3" "7473" "3" "c.7473+3G>A" "r.spl?" "p.?" "" "" "0000692282" "00000746" "50" "8050" "0" "8050" "0" "c.8050T>C" "r.(?)" "p.(Tyr2684His)" "" "" "0000692283" "00000746" "50" "10457" "0" "10457" "0" "c.10457C>T" "r.(?)" "p.(Ala3486Val)" "" "" "0000696948" "00000746" "50" "2164" "0" "2164" "0" "c.2164G>T" "r.(?)" "p.(Val722Leu)" "" "" "0000711877" "00000746" "70" "8147" "0" "8147" "0" "c.8147A>G" "r.(?)" "p.(Gln2716Arg)" "" "" "0000712218" "00000746" "50" "4622" "0" "4622" "0" "c.4622C>A" "r.(?)" "p.(Thr1541Lys)" "" "" "0000712222" "00000746" "50" "3602" "0" "3602" "0" "c.3602G>A" "r.(?)" "p.(Arg1201Gln)" "" "" "0000712223" "00000746" "50" "10250" "0" "10252" "0" "c.10250_10252del" "r.(?)" "p.(Ser3417del)" "" "" "0000712232" "00000746" "50" "1185" "0" "1185" "0" "c.1185dupC" "r.(?)" "p.(Glu396Argfs*36)" "" "" "0000712243" "00000746" "50" "8084" "0" "8085" "0" "c.8084_8085delAA" "r.(?)" "p.(Lys2695Argfs*16)" "" "" "0000712261" "00000746" "50" "1185" "0" "1185" "0" "c.1185dup" "r.(?)" "p.(Glu396Argfs*36)" "" "" "0000712271" "00000746" "50" "7186" "0" "7186" "0" "c.7186G>C" "r.(?)" "p.(Asp2396His)" "" "" "0000712272" "00000746" "50" "7186" "0" "7186" "0" "c.7186G>C" "r.(?)" "p.(Asp2396His)" "" "" "0000712273" "00000746" "50" "10250" "0" "10252" "0" "c.10250_10252delCCT" "r.(?)" "p.(Ser3417del)" "" "" "0000712274" "00000746" "50" "10250" "0" "10252" "0" "c.10250_10252delCCT" "r.(?)" "p.(Ser3417del)" "" "" "0000712275" "00000746" "50" "8296" "0" "8296" "0" "c.8296C>G" "r.(?)" "p.(Arg2766Gly)" "" "" "0000712276" "00000746" "50" "8296" "0" "8296" "0" "c.8296C>G" "r.(?)" "p.(Arg2766Gly)" "" "" "0000712277" "00000746" "50" "9067" "0" "9067" "0" "c.9067C>T" "r.(?)" "p.(Pro3023Ser)" "" "" "0000712278" "00000746" "50" "9067" "0" "9067" "0" "c.9067C>T" "r.(?)" "p.(Pro3023Ser)" "" "" "0000712284" "00000746" "50" "4955" "0" "4955" "0" "c.4955T>A" "r.(?)" "p.(Leu1652Gln)" "" "" "0000712304" "00000746" "50" "9230" "-3" "9230" "-3" "c.9230-3C>T" "r.(?)" "p.?" "" "" "0000712328" "00000746" "50" "900" "0" "900" "0" "c.900delT" "r.(?)" "p.?" "" "" "0000712541" "00000746" "50" "3756" "5" "3756" "5" "c.3756+5G>C" "r.(?)" "p.?" "" "" "0000712542" "00000746" "50" "3756" "5" "3756" "5" "c.3756+5G>C" "r.(?)" "p.?" "" "" "0000712543" "00000746" "50" "4876" "-2" "4876" "-2" "c.4876-2A>G" "r.(?)" "p.?" "" "" "0000726223" "00000746" "30" "4655" "6" "4655" "6" "c.4655+6G>A" "r.(=)" "p.(=)" "" "" "0000726224" "00000746" "90" "4930" "0" "4930" "0" "c.4930C>T" "r.(?)" "p.(Gln1644*)" "" "" "0000726225" "00000746" "50" "5133" "5" "5133" "5" "c.5133+5G>T" "r.spl?" "p.?" "" "" "0000726226" "00000746" "90" "6791" "0" "6791" "0" "c.6791G>A" "r.(?)" "p.(Trp2264*)" "" "" "0000726227" "00000746" "50" "6847" "0" "6847" "0" "c.6847G>A" "r.(?)" "p.(Val2283Met)" "" "" "0000726228" "00000746" "50" "6863" "0" "6863" "0" "c.6863C>T" "r.(?)" "p.(Ser2288Leu)" "" "" "0000726229" "00000746" "90" "7893" "1" "7893" "1" "c.7893+1G>A" "r.spl?" "p.?" "" "" "0000726230" "00000746" "90" "8149" "-1" "8149" "-1" "c.8149-1G>A" "r.spl?" "p.?" "" "" "0000726231" "00000746" "30" "8949" "0" "8949" "0" "c.8949G>A" "r.(?)" "p.(Glu2983=)" "" "" "0000726232" "00000746" "50" "9620" "0" "9620" "0" "c.9620G>A" "r.(?)" "p.(Arg3207His)" "" "" "0000729801" "00000746" "90" "6892" "0" "6892" "0" "c.6892C>T" "r.(?)" "p.(Arg2298*)" "" "" "0000729802" "00000746" "90" "9514" "0" "9514" "0" "c.9514C>T" "r.(?)" "p.(Gln3172*)" "" "" "0000729803" "00000746" "90" "9514" "0" "9514" "0" "c.9514C>T" "r.(?)" "p.(Gln3172*)" "" "" "0000729809" "00000746" "90" "7894" "0" "7894" "0" "c.7894G>T" "r.(?)" "p.(Val2632Leu)" "" "" "0000730237" "00000746" "90" "1128" "0" "1128" "0" "c.1128C>A" "r.(?)" "p.(Tyr376*)" "" "" "0000730297" "00000746" "90" "6177" "1" "6177" "1" "c.6177+1G>T" "r.spl" "p.?" "" "" "0000734597" "00000746" "50" "5824" "0" "5824" "0" "c.5824A>G" "r.(?)" "p.(Arg1942Gly)" "" "" "0000760960" "00000746" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Pro674Ser)" "" "" "0000783983" "00000746" "90" "9690" "1" "9690" "1" "c.9690+1G>A" "r.spl?" "p.?" "" "" "0000785448" "00000746" "50" "8315" "0" "8315" "0" "c.8315A>C" "r.(?)" "p.(Tyr2772Ser)" "" "" "0000789909" "00000746" "50" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Pro1520Ser)" "" "" "0000791288" "00000746" "70" "10258" "0" "10260" "0" "c.10258_10260del" "r.(?)" "p.(Phe3420del)" "" "" "0000795481" "00000746" "70" "1615" "0" "1615" "0" "c.1615C>T" "r.(?)" "p.(Gln539*)" "" "" "0000795482" "00000746" "70" "3524" "0" "3524" "0" "c.3524dup" "r.(?)" "p.(Ser1176Valfs*14)" "" "" "0000807838" "00000746" "30" "1454" "0" "1454" "0" "c.1454T>C" "r.(?)" "p.(Val485Ala)" "" "" "0000807839" "00000746" "30" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Pro674Ser)" "" "" "0000807840" "00000746" "50" "2821" "0" "2821" "0" "c.2821T>C" "r.(?)" "p.(Ser941Pro)" "" "" "0000807841" "00000746" "50" "6113" "0" "6113" "0" "c.6113G>A" "r.(?)" "p.(Arg2038His)" "" "" "0000807842" "00000746" "30" "6530" "0" "6530" "0" "c.6530G>A" "r.(?)" "p.(Arg2177Gln)" "" "" "0000807843" "00000746" "50" "7164" "0" "7164" "0" "c.7164C>A" "r.(?)" "p.(Asp2388Glu)" "" "" "0000807844" "00000746" "30" "7473" "10" "7473" "10" "c.7473+10G>T" "r.(=)" "p.(=)" "" "" "0000807845" "00000746" "50" "7550" "0" "7550" "0" "c.7550C>G" "r.(?)" "p.(Thr2517Ser)" "" "" "0000807846" "00000746" "50" "9401" "0" "9401" "0" "c.9401G>A" "r.(?)" "p.(Arg3134Gln)" "" "" "0000807847" "00000746" "30" "10393" "0" "10393" "0" "c.10393C>T" "r.(?)" "p.(Arg3465Trp)" "" "" "0000807848" "00000746" "90" "10431" "0" "10431" "0" "c.10431T>G" "r.(?)" "p.(Tyr3477*)" "" "" "0000807849" "00000746" "50" "10508" "0" "10508" "0" "c.10508G>A" "r.(?)" "p.(Arg3503His)" "" "" "0000810750" "00000746" "30" "3130" "0" "3147" "0" "c.3130_3147dup" "r.(?)" "p.(Ile1044_Asp1049dup)" "" "" "0000810752" "00000746" "30" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Ala408Val)" "" "" "0000837029" "00000746" "50" "785" "0" "785" "0" "c.785C>A" "r.(?)" "p.(Ala262Glu)" "" "" "0000837032" "00000746" "30" "3658" "0" "3658" "0" "c.3658G>A" "r.(?)" "p.(Gly1220Arg)" "" "" "0000841957" "00000746" "50" "9658" "0" "9658" "0" "c.9658C>T" "r.(?)" "p.(Leu3220Phe)" "" "" "0000854771" "00000746" "30" "393" "0" "393" "0" "c.393C>G" "r.(?)" "p.(Ser131=)" "" "" "0000854772" "00000746" "30" "4176" "0" "4176" "0" "c.4176C>T" "r.(?)" "p.(Tyr1392=)" "" "" "0000854773" "00000746" "30" "4500" "0" "4500" "0" "c.4500G>A" "r.(?)" "p.(Val1500=)" "" "" "0000854774" "00000746" "50" "4552" "0" "4552" "0" "c.4552A>T" "r.(?)" "p.(Ile1518Phe)" "" "" "0000854775" "00000746" "50" "5603" "0" "5603" "0" "c.5603G>A" "r.(?)" "p.(Arg1868His)" "" "" "0000854776" "00000746" "90" "5761" "0" "5761" "0" "c.5761C>T" "r.(?)" "p.(Arg1921*)" "" "" "0000854777" "00000746" "90" "5838" "0" "5838" "0" "c.5838del" "r.(?)" "p.(Gln1946Hisfs*3)" "" "" "0000854778" "00000746" "30" "5880" "0" "5880" "0" "c.5880C>T" "r.(?)" "p.(His1960=)" "" "" "0000854779" "00000746" "50" "6281" "0" "6281" "0" "c.6281G>A" "r.(?)" "p.(Arg2094His)" "" "" "0000854780" "00000746" "50" "6580" "0" "6580" "0" "c.6580C>T" "r.(?)" "p.(Arg2194Trp)" "" "" "0000865105" "00000746" "30" "2879" "0" "2879" "0" "c.2879C>G" "r.(?)" "p.(Pro960Arg)" "" "" "0000865106" "00000746" "30" "4038" "58" "4038" "61" "c.4038+58_4038+61del" "r.(=)" "p.(=)" "" "" "0000865107" "00000746" "50" "4252" "0" "4252" "0" "c.4252G>A" "r.(?)" "p.(Gly1418Arg)" "" "" "0000865108" "00000746" "50" "4607" "0" "4607" "0" "c.4607G>T" "r.(?)" "p.(Arg1536Leu)" "" "" "0000865109" "00000746" "50" "6408" "0" "6408" "0" "c.6408G>C" "r.(?)" "p.(Trp2136Cys)" "" "" "0000865110" "00000746" "50" "7961" "0" "7961" "0" "c.7961C>G" "r.(?)" "p.(Thr2654Ser)" "" "" "0000871765" "00000746" "50" "4252" "0" "4252" "0" "c.4252G>A" "r.(?)" "p.(Gly1418Arg)" "" "" "0000893379" "00000746" "90" "1546" "0" "1546" "0" "c.1546G>T" "r.(?)" "p.(Glu516Ter)" "" "" "0000893380" "00000746" "70" "2055" "0" "2055" "0" "c.2055delinsCC" "r.(?)" "p.(Gly686Argfs*294)" "" "" "0000893381" "00000746" "50" "4510" "0" "4510" "0" "c.4510G>A" "r.(?)" "p.(Val1504Met)" "" "" "0000893382" "00000746" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898Gln)" "" "" "0000893383" "00000746" "90" "6046" "1" "6046" "1" "c.6046+1G>A" "r.spl?" "p.?" "" "" "0000893384" "00000746" "70" "6634" "0" "6634" "0" "c.6634G>A" "r.(?)" "p.(Glu2212Lys)" "" "" "0000893385" "00000746" "90" "6956" "1" "6956" "1" "c.6956+1G>A" "r.spl?" "p.?" "" "" "0000893386" "00000746" "50" "7265" "0" "7265" "0" "c.7265C>T" "r.(?)" "p.(Pro2422Leu)" "" "" "0000893387" "00000746" "50" "8060" "0" "8060" "0" "c.8060C>G" "r.(?)" "p.(Ala2687Gly)" "" "" "0000893388" "00000746" "50" "8500" "0" "8500" "0" "c.8500A>G" "r.(?)" "p.(Met2834Val)" "" "" "0000893389" "00000746" "50" "10243" "0" "10243" "0" "c.10243G>A" "r.(?)" "p.(Gly3415Ser)" "" "" "0000909344" "00000746" "90" "6011" "0" "6011" "0" "c.6011C>T" "r.(?)" "p.(Pro2004Leu)" "" "" "0000909345" "00000746" "90" "4778" "0" "4778" "0" "c.4778A>G" "r.(?)" "p.(Glu1593Gly)" "" "" "0000909346" "00000746" "90" "8767" "0" "8767" "0" "c.8767C>T" "r.(?)" "p.(Arg2923Ter)" "" "" "0000909347" "00000746" "90" "6551" "0" "6551" "0" "c.6551G>C" "r.(?)" "p.(Cys2184Ser)" "" "" "0000909348" "00000746" "90" "8340" "0" "8340" "0" "c.8340G>A" "r.spl?" "p.(Thr2780=)" "" "" "0000909349" "00000746" "90" "4216" "0" "4216" "0" "c.4216G>A" "r.(?)" "p.(Glu1406Lys)" "" "" "0000909353" "00000746" "90" "6716" "0" "6716" "0" "c.6716A>C" "r.(?)" "p.(His2239Pro)" "" "" "0000909354" "00000746" "90" "8065" "0" "8065" "0" "c.8065del" "r.(?)" "p.(Trp2689GlyfsTer49)" "" "" "0000909405" "00000746" "90" "6518" "0" "6518" "0" "c.6518C>T" "r.(?)" "p.(Ser2173Phe)" "" "" "0000909406" "00000746" "90" "6863" "0" "6863" "0" "c.6863C>T" "r.(?)" "p.(Ser2288Leu)" "" "" "0000909407" "00000746" "90" "6011" "0" "6011" "0" "c.6011C>T" "r.(?)" "p.(Pro2004Leu)" "" "" "0000909408" "00000746" "90" "4519" "0" "4519" "0" "c.4519C>T" "r.(?)" "p.(Arg1507Ter)" "" "" "0000909413" "00000746" "90" "6302" "0" "6302" "0" "c.6302T>C" "r.(?)" "p.(Leu2101Pro)" "" "" "0000909414" "00000746" "90" "6634" "0" "6634" "0" "c.6634G>A" "r.(?)" "p.(Glu2212Lys)" "" "" "0000909415" "00000746" "90" "8340" "0" "8340" "0" "c.8340G>A" "r.spl?" "p.(Thr2780=)" "" "" "0000909439" "00000746" "90" "9947" "0" "9947" "0" "c.9947A>G" "r.(?)" "p.(Gln3316Arg)" "" "" "0000909784" "00000746" "50" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Ala595Thr)" "" "" "0000914748" "00000746" "90" "3867" "-1" "3867" "-1" "c.3867-1G>A" "r.spl?" "p.?" "" "" "0000921782" "00000746" "50" "6136" "0" "6136" "0" "c.6136A>T" "r.(?)" "p.(Asn2046Tyr)" "" "" "0000921783" "00000746" "50" "6580" "0" "6580" "0" "c.6580C>T" "r.(?)" "p.(Arg2194Trp)" "" "" "0000926404" "00000746" "70" "909" "0" "909" "0" "c.909C>A" "r.(?)" "p.(Tyr303*)" "" "" "0000926405" "00000746" "50" "3478" "0" "3478" "0" "c.3478C>T" "r.(?)" "p.(Arg1160Trp)" "" "" "0000926406" "00000746" "50" "3622" "0" "3622" "0" "c.3622C>T" "r.(?)" "p.(Arg1208Cys)" "" "" "0000926407" "00000746" "50" "5094" "0" "5094" "0" "c.5094G>C" "r.(?)" "p.(Glu1698Asp)" "" "" "0000926408" "00000746" "50" "8708" "0" "8708" "0" "c.8708G>A" "r.(?)" "p.(Arg2903Gln)" "" "" "0000930703" "00000746" "50" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Val366Ile)" "" "" "0000930704" "00000746" "90" "10425" "0" "10425" "0" "c.10425C>A" "r.(?)" "p.(Tyr3475*)" "" "" "0000943886" "00000746" "90" "5336" "0" "5336" "0" "c.5336T>C" "r.(?)" "p.(Leu1779Pro)" "" "" "0000943902" "00000746" "70" "3833" "0" "3833" "0" "c.3833A>C" "r.(?)" "p.(Gln1278Pro)" "" "" "0000943903" "00000746" "70" "4351" "0" "4351" "0" "c.4351G>A" "r.(?)" "p.(Asp1451Asn)" "" "" "0000943916" "00000746" "70" "9876" "0" "9876" "0" "c.9876G>T" "r.(?)" "p.(Trp3292Cys)" "" "" "0000943917" "00000746" "70" "6461" "0" "6461" "0" "c.6461G>A" "r.(?)" "p.(Cys2154Tyr)" "" "" "0000943945" "00000746" "30" "1111" "0" "1111" "0" "c.1111C>A" "r.(?)" "p.(Pro371Thr)" "" "" "0000944140" "00000746" "90" "2456" "0" "2456" "0" "c.2456C>A" "r.(?)" "p.(Ser819Ter)" "" "" "0000944141" "00000746" "90" "3505" "0" "3505" "0" "c.3505C>T" "r.(?)" "p.(Arg1169Ter)" "" "" "0000944142" "00000746" "90" "4528" "0" "4528" "0" "c.4528C>T" "r.(?)" "p.(Gln1510Ter)" "" "" "0000944143" "00000746" "90" "3505" "0" "3505" "0" "c.3505C>T" "r.(?)" "p.(Arg1169Ter)" "" "" "0000944144" "00000746" "90" "8224" "3" "8224" "3" "c.8224+3A>G" "r.spl" "p.?" "" "" "0000944289" "00000746" "90" "4570" "0" "4570" "0" "c.4570C>T" "r.(?)" "p.(Gln1524Ter)" "" "" "0000944306" "00000746" "90" "10209" "0" "10210" "0" "c.10209_10210delinsCCACCAGGCCCGTGCCTCCC" "r.(?)" "p.(Gln3403_Phe3404delinsHisHisGlnAlaArgAlaSerLeu)" "" "" "0000944310" "00000746" "90" "5673" "0" "5673" "0" "c.5673C>G" "r.(?)" "p.(Tyr1891*)" "" "" "0000944311" "00000746" "90" "5673" "0" "5673" "0" "c.5673C>G" "r.(?)" "p.(Tyr1891*)" "" "" "0000944312" "00000746" "90" "4454" "0" "4454" "0" "c.4454T>C" "r.(?)" "p.(Leu1485Pro)" "" "" "0000944313" "00000746" "90" "5673" "0" "5673" "0" "c.5673C>G" "r.(?)" "p.(Tyr1891*)" "" "" "0000944314" "00000746" "90" "4454" "0" "4454" "0" "c.4454T>C" "r.(?)" "p.(Leu1485Pro)" "" "" "0000944492" "00000746" "90" "1657" "0" "1657" "0" "c.1657del" "r.(?)" "p.(Arg553GlyfsTer76)" "" "" "0000944493" "00000746" "90" "2456" "0" "2456" "0" "c.2456C>A" "r.(?)" "p.(Ser819Ter)" "" "" "0000944494" "00000746" "90" "3866" "1" "3866" "1" "c.3866+1G>A" "r.spl" "p.?" "" "" "0000944495" "00000746" "90" "6589" "0" "6589" "0" "c.6589C>T" "r.(?)" "p.(Gln2197Ter)" "" "" "0000944496" "00000746" "90" "8158" "0" "8158" "0" "c.8158G>A" "r.(?)" "p.(Asp2720Asn)" "" "" "0000950810" "00000746" "70" "5417" "0" "5417" "0" "c.5417T>C" "r.(?)" "p.(Leu1806Pro)" "" "" "0000950811" "00000746" "90" "6660" "0" "6660" "0" "c.6660del" "r.(?)" "p.(Ser2221Alafs*32)" "" "" "0000958592" "00000746" "90" "1185" "0" "1185" "0" "c.1185dup" "r.(?)" "p.(Glu396ArgfsTer36)" "" "" "0000968721" "00000746" "50" "5094" "0" "5094" "0" "c.5094G>C" "r.(?)" "p.(Glu1698Asp)" "" "" "0000968722" "00000746" "50" "5201" "0" "5201" "0" "c.5201G>A" "r.(?)" "p.(Ser1734Asn)" "" "" "0000968723" "00000746" "50" "5287" "0" "5287" "0" "c.5287C>T" "r.(?)" "p.(Arg1763Trp)" "" "" "0000968724" "00000746" "90" "6764" "2" "6764" "2" "c.6764+2T>A" "r.spl?" "p.?" "" "" "0000971423" "00000746" "70" "10208" "0" "10209" "0" "c.10208_10209delinsCCACCAGGCCCGTGCAGCTC" "r.(?)" "p.(Gln3403delinsProThrArgProValGlnLeu)" "63" "" "0000982349" "00000746" "30" "3659" "0" "3659" "0" "c.3659G>A" "r.(?)" "p.(Gly1220Glu)" "" "" "0000982350" "00000746" "50" "4424" "0" "4424" "0" "c.4424T>C" "r.(?)" "p.(Ile1475Thr)" "" "" "0000982351" "00000746" "50" "4966" "0" "4966" "0" "c.4966G>A" "r.(?)" "p.(Gly1656Ser)" "" "" "0000982352" "00000746" "50" "5047" "0" "5047" "0" "c.5047C>G" "r.(?)" "p.(His1683Asp)" "" "" "0000982353" "00000746" "30" "5894" "0" "5894" "0" "c.5894G>A" "r.(?)" "p.(Arg1965His)" "" "" "0000982354" "00000746" "50" "9862" "0" "9862" "0" "c.9862G>A" "r.(?)" "p.(Gly3288Ser)" "" "" "0001003013" "00000746" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Gln153Arg)" "" "" "0001003014" "00000746" "50" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186Gln)" "" "" "0001003015" "00000746" "70" "2054" "0" "2054" "0" "c.2054dup" "r.(?)" "p.(Leu687Profs*293)" "" "" "0001003016" "00000746" "30" "2834" "0" "2834" "0" "c.2834G>A" "r.(?)" "p.(Gly945Glu)" "" "" "0001003017" "00000746" "70" "6634" "0" "6634" "0" "c.6634G>C" "r.(?)" "p.(Glu2212Gln)" "" "" "0001003018" "00000746" "90" "8432" "0" "8450" "0" "c.8432_8450del" "r.(?)" "p.(Gly2811Valfs*11)" "" "" "0001015479" "00000746" "50" "3673" "0" "3673" "0" "c.3673G>A" "r.(?)" "p.(Glu1225Lys)" "" "" "0001015480" "00000746" "50" "4540" "0" "4540" "0" "c.4540G>A" "r.(?)" "p.(Glu1514Lys)" "" "" "0001015481" "00000746" "50" "6550" "0" "6550" "0" "c.6550T>C" "r.(?)" "p.(Cys2184Arg)" "" "" "0001015482" "00000746" "50" "7244" "0" "7244" "0" "c.7244G>A" "r.(?)" "p.(Arg2415His)" "" "" "0001015483" "00000746" "30" "10393" "0" "10393" "0" "c.10393C>T" "r.(?)" "p.(Arg3465Trp)" "" "" "0001020158" "00000746" "50" "5361" "0" "5361" "0" "c.5361G>C" "r.(?)" "p.(Arg1787Ser)" "" "" "0001020262" "00000746" "70" "4581" "0" "4581" "0" "c.4581del" "r.(?)" "p.(Thr1528ProfsTer4)" "" "" "0001026825" "00000746" "50" "7967" "-10" "7967" "-10" "c.7967-10C>A" "r.(=)" "p.(=)" "" "" "0001026826" "00000746" "50" "10047" "0" "10047" "0" "c.10047G>T" "r.(?)" "p.(Gln3349His)" "" "" "0001041665" "00000746" "30" "3757" "-8" "3757" "-8" "c.3757-8C>G" "r.(=)" "p.(=)" "" "" "0001041666" "00000746" "50" "5314" "0" "5314" "0" "c.5314G>A" "r.(?)" "p.(Ala1772Thr)" "" "" "0001041667" "00000746" "30" "5361" "-4" "5361" "-4" "c.5361-4C>T" "r.spl?" "p.?" "" "" "0001041668" "00000746" "30" "8269" "0" "8269" "0" "c.8269G>A" "r.(?)" "p.(Val2757Met)" "" "" "0001041669" "00000746" "70" "9861" "0" "9861" "0" "c.9861C>T" "r.(?)" "p.(=)" "" "" "0001044957" "00000746" "90" "3524" "0" "3524" "0" "c.3524dup" "r,(?)" "p.(Ser1176ValfsTer14)" "" "" "0001044958" "00000746" "90" "10250" "0" "10252" "0" "c.10250_10252del" "r,(?)" "p.(Ser3417del)" "" "" "0001044959" "00000746" "90" "8182" "0" "8182" "0" "c.8182C>G" "r,(?)" "p.(Arg2728Gly)" "" "" "0001044960" "00000746" "90" "3757" "-32" "3757" "-1" "c.3757-32_3757-1del" "r.spl" "p.?" "" "" "0001044961" "00000746" "90" "5964" "3" "5964" "3" "c.5964+3G>A" "r.spl" "p.?" "" "" "0001044962" "00000746" "90" "9408" "0" "9408" "0" "c.9408G>C" "r,(?)" "p.(Trp3136Cys)" "" "" "0001044963" "00000746" "90" "10111" "0" "10111" "0" "c.10111C>T" "r,(?)" "p.(Gln3371Ter)" "" "" "0001044964" "00000746" "90" "10258" "0" "10260" "0" "c.10258_10260del" "r,(?)" "p.(Phe3420del)" "" "" "0001044965" "00000746" "90" "3844" "0" "3844" "0" "c.3844C>T" "r,(?)" "p.(Arg1282Trp)" "" "" "0001044966" "00000746" "90" "4101" "0" "4101" "0" "c.4101C>A" "r,(?)" "p.(Asn1367Lys)" "" "" "0001044967" "00000746" "90" "4457" "0" "4457" "0" "c.4457G>T" "r,(?)" "p.(Gly1486Val)" "" "" "0001044968" "00000746" "90" "4642" "0" "4642" "0" "c.4642G>A" "r,(?)" "p.(Ala1548Thr)" "" "" "0001044969" "00000746" "90" "4760" "0" "4760" "0" "c.4760T>C" "r,(?)" "p.(Leu1587Pro)" "" "" "0001044970" "00000746" "90" "4762" "0" "4763" "0" "c.4762_4763insTTTCTATG" "r,(?)" "p.(Asp1588ValfsTer11)" "" "" "0001044971" "00000746" "90" "5423" "0" "5439" "0" "c.5423_5439del" "r,(?)" "p.(Glu1808GlyfsTer41)" "" "" "0001044972" "00000746" "90" "5443" "0" "5443" "0" "c.5443C>A" "r,(?)" "p.(Gln1815Lys)" "" "" "0001044973" "00000746" "90" "5977" "0" "5977" "0" "c.5977C>T" "r,(?)" "p.(Arg1993Trp)" "" "" "0001044974" "00000746" "90" "6281" "0" "6281" "0" "c.6281G>A" "r,(?)" "p.(Arg2094His)" "" "" "0001044975" "00000746" "90" "6956" "1" "6956" "1" "c.6956+1G>A" "r.spl" "p.?" "" "" "0001044976" "00000746" "90" "7711" "0" "7712" "0" "c.7711_7712dup" "r,(?)" "p.(Gln2571HisfsTer35)" "" "" "0001044977" "00000746" "90" "7987" "0" "7987" "0" "c.7987dup" "r,(?)" "p.(Glu2663GlyfsTer4)" "" "" "0001044978" "00000746" "90" "8602" "-1" "8602" "-1" "c.8602-1G>C" "r.spl" "p.?" "" "" "0001046598" "00000746" "50" "6133" "0" "6133" "0" "c.6133A>T" "r.(?)" "p.(Ile2045Phe)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 324 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013647" "0000002902" "0000021269" "0000002902" "0000021270" "0000002908" "0000021279" "0000002908" "0000021280" "0000002908" "0000021281" "0000058986" "0000089787" "0000059004" "0000089801" "0000059005" "0000089802" "0000059006" "0000089803" "0000059007" "0000089804" "0000059008" "0000089805" "0000059102" "0000089899" "0000059130" "0000089930" "0000059131" "0000089931" "0000059131" "0000089932" "0000059131" "0000089933" "0000059132" "0000089934" "0000059132" "0000089935" "0000059132" "0000089936" "0000059133" "0000089937" "0000059135" "0000089939" "0000059135" "0000089940" "0000059136" "0000089941" "0000059136" "0000089942" "0000059136" "0000089943" "0000060220" "0000091200" "0000060222" "0000091202" "0000060222" "0000091203" "0000060281" "0000091301" "0000060283" "0000091303" "0000080114" "0000129000" "0000080114" "0000129001" "0000080117" "0000129006" "0000080117" "0000129007" "0000080117" "0000129008" "0000080120" "0000129012" "0000080120" "0000129013" "0000080131" "0000129031" "0000080131" "0000129032" "0000081132" "0000130218" "0000133127" "0000943945" "0000155361" "0000355084" "0000164081" "0000367609" "0000164376" "0000367549" "0000164376" "0000367649" "0000164377" "0000367550" "0000164377" "0000367568" "0000164377" "0000367569" "0000164377" "0000367570" "0000164377" "0000367576" "0000164377" "0000367625" "0000164377" "0000367628" "0000164377" "0000367657" "0000164377" "0000367674" "0000164377" "0000367677" "0000164377" "0000367704" "0000164377" "0000367713" "0000164378" "0000367551" "0000164378" "0000367675" "0000164379" "0000367552" "0000164379" "0000367683" "0000164380" "0000367553" "0000164380" "0000367685" "0000164381" "0000367554" "0000164382" "0000367555" "0000164383" "0000367556" "0000164384" "0000367557" "0000164384" "0000367656" "0000164385" "0000367558" "0000164385" "0000367712" "0000164386" "0000367559" "0000164387" "0000367560" "0000164387" "0000367710" "0000164388" "0000367561" "0000164388" "0000367711" "0000164389" "0000367562" "0000164390" "0000367563" "0000164390" "0000367594" "0000164391" "0000367564" "0000164391" "0000367597" "0000164392" "0000367565" "0000164392" "0000367614" "0000164393" "0000367566" "0000164393" "0000367619" "0000164394" "0000367567" "0000164395" "0000367571" "0000164396" "0000367572" "0000164397" "0000367573" "0000164398" "0000367574" "0000164398" "0000367606" "0000164399" "0000367575" "0000164399" "0000367694" "0000164400" "0000367577" "0000164400" "0000367634" "0000164401" "0000367578" "0000164402" "0000367579" "0000164403" "0000367580" "0000164404" "0000367581" "0000164405" "0000367582" "0000164406" "0000367583" "0000164407" "0000367584" "0000164408" "0000367585" "0000164409" "0000367586" "0000164410" "0000367587" "0000164411" "0000367588" "0000164412" "0000367589" "0000164412" "0000367695" "0000164413" "0000367590" "0000164414" "0000367591" "0000164414" "0000367699" "0000164415" "0000367592" "0000164416" "0000367593" "0000164417" "0000367595" "0000164418" "0000367596" "0000164419" "0000367598" "0000164420" "0000367599" "0000164420" "0000367633" "0000164421" "0000367600" "0000164421" "0000367610" "0000164422" "0000367601" "0000164422" "0000367724" "0000164423" "0000367602" "0000164424" "0000367603" "0000164425" "0000367604" "0000164426" "0000367605" "0000164427" "0000367607" "0000164428" "0000367608" "0000164428" "0000367629" "0000164430" "0000367611" "0000164431" "0000367612" "0000164432" "0000367613" "0000164433" "0000367615" "0000164434" "0000367616" "0000164435" "0000367617" "0000164436" "0000367618" "0000164437" "0000367620" "0000164437" "0000367658" "0000164438" "0000367621" "0000164439" "0000367622" "0000164440" "0000367623" "0000164441" "0000367624" "0000164442" "0000367626" "0000164442" "0000367693" "0000164443" "0000367627" "0000164444" "0000367630" "0000164444" "0000367631" "0000164445" "0000367632" "0000164446" "0000367635" "0000164446" "0000367684" "0000164447" "0000367636" "0000164448" "0000367637" "0000164449" "0000367638" "0000164450" "0000367639" "0000164451" "0000367640" "0000164452" "0000367641" "0000164453" "0000367642" "0000164454" "0000367643" "0000164455" "0000367644" "0000164456" "0000367645" "0000164457" "0000367646" "0000164457" "0000367655" "0000164458" "0000367647" "0000164459" "0000367648" "0000164459" "0000367726" "0000164461" "0000367651" "0000164462" "0000367652" "0000164463" "0000367653" "0000164464" "0000367654" "0000164464" "0000367723" "0000164465" "0000367659" "0000164466" "0000367660" "0000164467" "0000367661" "0000164468" "0000367662" "0000164469" "0000367663" "0000164470" "0000367664" "0000164471" "0000367665" "0000164472" "0000367666" "0000164473" "0000367667" "0000164474" "0000367668" "0000164475" "0000367669" "0000164476" "0000367670" "0000164477" "0000367671" "0000164478" "0000367672" "0000164479" "0000367673" "0000164480" "0000367676" "0000164481" "0000367678" "0000164482" "0000367679" "0000164483" "0000367680" "0000164484" "0000367681" "0000164485" "0000367682" "0000164486" "0000367686" "0000164487" "0000367687" "0000164488" "0000367688" "0000164489" "0000367689" "0000164490" "0000367690" "0000164491" "0000367691" "0000164491" "0000367700" "0000164492" "0000367692" "0000164492" "0000367705" "0000164493" "0000367696" "0000164494" "0000367697" "0000164495" "0000367698" "0000164496" "0000367701" "0000164497" "0000367702" "0000164498" "0000367703" "0000164499" "0000367706" "0000164500" "0000367707" "0000164501" "0000367708" "0000164501" "0000367721" "0000164502" "0000367709" "0000164503" "0000367714" "0000164504" "0000367715" "0000164505" "0000367716" "0000164506" "0000367717" "0000164507" "0000367718" "0000164507" "0000367728" "0000164508" "0000367719" "0000164509" "0000367720" "0000164510" "0000367722" "0000164511" "0000367725" "0000164512" "0000367727" "0000164513" "0000367729" "0000171676" "0000367650" "0000292820" "0000649509" "0000292821" "0000649510" "0000292822" "0000649511" "0000292823" "0000649512" "0000292824" "0000649513" "0000296990" "0000659647" "0000305698" "0000669386" "0000328269" "0000712218" "0000328275" "0000712222" "0000328277" "0000712223" "0000328286" "0000712232" "0000328297" "0000712243" "0000328316" "0000712261" "0000328326" "0000712271" "0000328327" "0000712272" "0000328328" "0000712273" "0000328329" "0000712274" "0000328331" "0000712275" "0000328332" "0000712276" "0000328333" "0000712277" "0000328334" "0000712278" "0000328340" "0000712284" "0000328361" "0000712304" "0000328592" "0000712328" "0000328598" "0000712541" "0000328598" "0000712542" "0000328599" "0000712543" "0000332522" "0000729801" "0000332523" "0000729802" "0000332523" "0000729809" "0000332524" "0000729803" "0000332838" "0000730237" "0000332838" "0000730297" "0000373749" "0000783983" "0000377536" "0000789909" "0000381914" "0000795481" "0000381914" "0000795482" "0000429733" "0000909344" "0000429733" "0000909345" "0000429734" "0000909346" "0000429734" "0000909347" "0000429735" "0000909348" "0000429735" "0000909349" "0000429737" "0000909784" "0000429738" "0000909353" "0000429738" "0000909354" "0000429784" "0000909405" "0000429784" "0000909406" "0000429785" "0000909407" "0000429785" "0000909408" "0000429790" "0000909413" "0000429790" "0000909414" "0000429791" "0000909415" "0000429791" "0000909439" "0000442595" "0000943886" "0000442602" "0000943902" "0000442602" "0000943916" "0000442603" "0000943903" "0000442603" "0000943917" "0000442813" "0000944140" "0000442814" "0000944141" "0000442815" "0000944142" "0000442815" "0000944289" "0000442816" "0000944143" "0000442817" "0000944144" "0000442953" "0000944306" "0000442956" "0000944310" "0000442957" "0000944311" "0000442957" "0000944312" "0000442958" "0000944313" "0000442958" "0000944314" "0000443110" "0000944492" "0000443111" "0000944493" "0000443112" "0000944494" "0000443113" "0000944495" "0000443114" "0000944496" "0000448790" "0000958592" "0000449839" "0000971423" "0000467188" "0001044957" "0000467189" "0001044958" "0000467190" "0001044959" "0000467191" "0001044960" "0000467192" "0001044961" "0000467193" "0001044962" "0000467194" "0001044963" "0000467195" "0001044964" "0000467196" "0001044965" "0000467197" "0001044966" "0000467198" "0001044967" "0000467199" "0001044968" "0000467200" "0001044969" "0000467201" "0001044970" "0000467202" "0001044971" "0000467203" "0001044972" "0000467204" "0001044973" "0000467205" "0001044974" "0000467206" "0001044975" "0000467207" "0001044976" "0000467208" "0001044977" "0000467209" "0001044978"