### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC26A4) # 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}}" "SLC26A4" "solute carrier family 26, member 4" "7" "q31" "unknown" "NG_008489.1" "UD_132119164452" "" "https://www.LOVD.nl/SLC26A4" "Deafness Gene Mutation Database \r\nDeafness Variation Database \r\nMoBiDiC " "1" "8818" "5172" "605646" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the SLC26A4 database using: www.LOVD.nl/SLC26A4
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/SLC26A4_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00110" "2018-07-20 14:53:52" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00019237" "SLC26A4" "solute carrier family 26, member 4" "001" "NM_000441.1" "" "NP_000432.1" "" "" "" "-224" "4706" "2343" "107301080" "107358254" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00128" "CF" "cystic fibrosis (CF)" "AR" "219700" "" "" "" "00006" "2013-05-14 09:22:43" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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" "00864" "DFNB4" "deafness, autosomal recessive, type 4, with enlarged vestibular aqueduct" "AR" "600791" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-05-22 11:27:54" "02098" "PDS;TDH2B" "Pendred syndrome (PDS, Thyroid dyshormonogenesis 2B)" "AR" "274600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "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" "05362" "LIS" "lissencephaly" "" "" "" "" "" "00006" "2017-12-29 12:16:43" "00006" "2023-11-27 09:41:55" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC26A4" "00864" "SLC26A4" "02098" ## Individuals ## Do not remove or alter this header ## ## Count = 506 "{{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}}" "00059043" "" "" "" "2" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Arab" "" "00059044" "" "" "" "3" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "yes" "Israel" "" "0" "" "" "Beduim" "" "00059167" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00060266" "" "" "" "1" "" "01542" "Karen Avraham Laboratory" "DFNB4" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi;Egypt;Turkey" "" "00060267" "" "" "" "2" "" "01542" "Karen Avraham Laboratory" "DFNB4" "" "yes" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00060268" "" "" "" "3" "" "01542" "Karen Avraham Laboratory" "DFNB4" "" "yes" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00080136" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080146" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00080733" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "2-generation family, 1 affcted, unaffected heterozygous carrier parents and brother" "F" "" "United States" "" "0" "" "" "" "" "00080743" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080744" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080745" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080746" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080747" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080748" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080749" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080750" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00080751" "" "" "" "1" "" "00006" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "" "United States" "" "0" "" "" "" "" "00087237" "" "" "" "1" "" "01817" "" "" "M" "no" "" "" "0" "" "" "Chinese" "" "00163814" "" "" "" "1" "" "02393" "" "" "M" "yes" "" "" "0" "" "" "" "" "00167285" "" "" "" "1" "" "02416" "{PMID:Yazdanpanahil 2013:24353858}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00167286" "" "" "" "1" "" "02416" "{PMID:Yazdanpanahil 2013:24353858}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00167287" "" "" "" "1" "" "02416" "{PMID:Yazdanpanahil 2013:24353858}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00167288" "" "" "" "1" "" "02416" "{PMID:Yazdanpanahil 2013:24353858}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00167289" "" "" "" "1" "" "02416" "{PMID:Yazdanpanahil 2013:24353858}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00167290" "" "" "" "1" "" "02416" "{PMID:Yazdanpanahil 2013:24353858}" "Proband" "M" "" "Iran" "" "0" "" "" "" "" "00167291" "" "" "" "1" "" "02416" "{PMID:Yazdanpanahil 2013:24353858}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00167292" "" "" "" "1" "" "02416" "{PMID:Yazdanpanahil 2013:24353858}" "Relative" "F" "" "Iran" "" "0" "" "" "" "" "00167294" "" "" "" "1" "" "02416" "{PMID:Ben Said 2012:22429511}" "Proband - presence of a goiter" "M" "" "Tunisia" "" "0" "" "" "" "" "00167295" "" "" "" "1" "" "02416" "{PMID:Ben Said 2012:22429511}" "Relative - Presence of a goiter" "F" "" "Tunisia" "" "0" "" "" "" "" "00167307" "" "" "" "1" "" "02416" "{PMID:Ben Said 2012:22429511}" "Relative - no goiter, EVA and Profound HL at age 19" "M" "" "Tunisia" "" "0" "" "" "" "" "00167308" "" "" "" "1" "" "02416" "{PMID:Ben Said 2012:22429511}" "Relative - no goiter, EVA and profound HL at age 8." "M" "" "Tunisia" "" "0" "" "" "" "" "00167309" "" "" "" "1" "" "02416" "{PMID:Ben Said 2012:22429511}" "Relative - no goiter,profound HL, CT SCAN not done." "F" "" "Tunisia" "" "0" "" "" "" "" "00167310" "" "" "" "1" "" "02416" "{PMID:Yazdanpanahil 2013:24353858}" "Relative" "M" "" "Iran" "" "0" "" "" "" "" "00167311" "" "" "" "1" "" "02416" "{PMID:Huang CJ 2013:23838540}" "Proband" "F" "" "China" "" "0" "" "" "" "" "00167312" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167313" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167314" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167315" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167316" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167317" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167318" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167319" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167320" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167321" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167322" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167323" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167324" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167325" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167326" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167327" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167328" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167329" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167330" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167331" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167332" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167333" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167334" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167335" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167336" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167337" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167338" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167339" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167340" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167341" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167342" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167343" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167344" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167345" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167346" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167347" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167348" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167349" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167350" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167351" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167352" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167353" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167354" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167355" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167356" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167357" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167358" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167359" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167360" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167361" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167362" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167363" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167364" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167365" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167366" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167367" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167368" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167369" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167370" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167371" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167372" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167373" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167374" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167375" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167376" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167377" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167378" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167379" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167380" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167381" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167382" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167383" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167384" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167385" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167386" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167387" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167388" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167389" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167390" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167391" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167392" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167393" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167394" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167395" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167396" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167397" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167398" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167399" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167400" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167401" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167402" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167403" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167404" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167405" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167406" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167407" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167408" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167409" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167410" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167411" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167412" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "China" "" "0" "" "" "" "" "00167413" "" "" "" "1" "" "02416" "{PMID:Jiang H 2012:22906308}" "Proband" "F" "" "China" "" "0" "" "" "" "" "00167414" "" "" "" "1" "" "02416" "{PMID:Lai CC 2007:17697873}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167415" "" "" "" "1" "" "02416" "{PMID:Lai CC 2007:17697873}" "Relative" "F" "" "China" "" "0" "" "" "" "" "00167416" "" "" "" "1" "" "02416" "{PMID:Lai CC 2007:17697873}" "Relative" "M" "" "China" "" "0" "" "" "" "" "00167417" "" "" "" "1" "" "02416" "{PMID:Lai CC 2007:17697873}" "Relative" "F" "" "China" "" "0" "" "" "" "" "00167418" "" "" "" "1" "" "02416" "{PMID:Lai CC 2007:17697873}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167419" "" "" "" "1" "" "02416" "{PMID:Lai CC 2007:17697873}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167420" "" "" "" "1" "" "02416" "{PMID:Lai CC 2007:17697873}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167421" "" "" "" "1" "" "02416" "{PMID:Lai CC 2007:17697873}" "Proband" "F" "" "China" "" "0" "" "" "" "" "00167422" "" "" "" "1" "" "02416" "{PMID:Lai CC 2007:17697873}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167423" "" "" "" "1" "" "02416" "{PMID:Chen J 2012:23151031}" "Proband" "M" "" "China" "" "0" "" "" "" "" "00167424" "" "" "" "1" "" "02416" "{PMID:Chen J 2012:23151031}" "Relative" "M" "" "China" "" "0" "" "" "" "" "00167425" "" "" "" "1" "" "02416" "{PMID:López-Bigas N 2002:12112665}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167426" "" "" "" "1" "" "02416" "{PMID:López-Bigas N 2002:12112665}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167427" "" "" "" "1" "" "02416" "{PMID:López-Bigas N 2002:12112665}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167428" "" "" "" "1" "" "02416" "{PMID:López-Bigas N 2002:12112665}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167429" "" "" "" "1" "" "02416" "{PMID:López-Bigas N 2002:12112665}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167430" "" "" "" "1" "" "02416" "{PMID:López-Bigas N 2002:12112665}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167431" "" "" "" "1" "" "02416" "{PMID:Yang JJ 2005:15574297}" "Proband" "" "" "Taiwan" "" "0" "" "" "" "" "00167432" "" "" "" "1" "" "02416" "{PMID:Yang JJ 2005:15574297}" "Relative" "" "" "Taiwan" "" "0" "" "" "" "" "00167433" "" "" "" "1" "" "02416" "{PMID:Yang JJ 2005:15574297}" "Proband" "" "" "Taiwan" "" "0" "" "" "" "" "00167434" "" "" "" "1" "" "02416" "{PMID:Yang JJ 2005:15574297}" "Relative" "" "" "Taiwan" "" "0" "" "" "" "" "00167435" "" "" "" "1" "" "02416" "{PMID:Yang JJ 2005:15574297}" "Proband" "" "" "Taiwan" "" "0" "" "" "" "" "00167436" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "" "" "Taiwan" "" "0" "" "" "" "" "00167437" "" "" "" "1" "" "02416" "{PMID:Yang JJ 2005:15574297}" "Proband" "" "" "Taiwan" "" "0" "" "" "" "" "00167438" "" "" "" "1" "" "02416" "{PMID:Yang JJ 2005:15574297}" "Relative" "" "" "Taiwan" "" "0" "" "" "" "" "00167439" "" "" "" "1" "" "02416" "{PMID:Yang JJ 2005:15574297}" "Proband" "" "" "Taiwan" "" "0" "" "" "" "" "00167440" "" "" "" "1" "" "02416" "{PMID:Yang JJ 2005:15574297}" "Proband" "" "" "Taiwan" "" "0" "" "" "" "" "00167445" "" "" "" "1" "" "02416" "{PMID:V.de Moraes 2013:23273637}" "Proband" "M" "" "Brazil" "" "0" "" "" "" "" "00167446" "" "" "" "1" "" "02416" "{PMID:V.de Moraes 2013:23273637}" "Proband" "F" "" "Brazil" "" "0" "" "" "" "" "00167448" "" "" "" "1" "" "02416" "{PMID:V.de Moraes 2013:23273637}" "Proband" "F" "" "Brazil" "" "0" "" "" "" "" "00167451" "" "" "" "1" "" "02416" "{PMID:V.de Moraes 2013:23273637}" "Proband" "F" "" "Brazil" "" "0" "" "" "" "" "00167452" "" "" "" "1" "" "02416" "{PMID:V.de Moraes 2013:23273637}" "Proband" "F" "" "Brazil" "" "0" "" "" "" "" "00167453" "" "" "" "1" "" "02416" "{PMID:V.de Moraes 2013:23273637}" "Proband" "F" "" "Brazil" "" "0" "" "" "" "" "00167454" "" "" "" "1" "" "02416" "{PMID:V.de Moraes 2013:23273637}" "Proband" "M" "" "Brazil" "" "0" "" "" "" "" "00167455" "" "" "" "1" "" "02416" "{PMID:V.de Moraes 2013:23273637}" "Proband" "F" "" "Brazil" "" "0" "" "" "" "" "00167456" "" "" "" "1" "" "02416" "{PMID:V.de Moraes 2013:23273637}" "Proband" "M" "" "Brazil" "" "0" "" "" "" "" "00167457" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167458" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Relative" "" "" "United States" "" "0" "" "" "" "" "00167459" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167460" "" "" "" "1" "" "02416" "{PMID:V.de Moraes 2013:23273637}" "Relative" "" "" "United States" "" "0" "" "" "" "" "00167461" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167462" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Relative" "" "" "United States" "" "0" "" "" "" "" "00167463" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167464" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Relative" "" "" "United States" "" "0" "" "" "" "" "00167465" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167466" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167467" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Relative" "" "" "United States" "" "0" "" "" "" "" "00167468" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Relative" "" "" "United States" "" "0" "" "" "" "" "00167469" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167470" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Relative" "" "" "United States" "" "0" "" "" "" "" "00167471" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167472" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Relative, dizygotic twin with (US02833000012)" "" "" "United States" "" "0" "" "" "" "" "00167473" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167474" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Relative" "" "" "United States" "" "0" "" "" "" "" "00167475" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167476" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167477" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167478" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167479" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167480" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167481" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167482" "" "" "" "1" "" "02416" "{PMID:C.Campbell 2001:11317356}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00167483" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167484" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167485" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Relative (Brother)" "" "" "Japan" "" "0" "" "" "" "" "00167486" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167487" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Relative (Brother)" "M" "" "Japan" "" "0" "" "" "" "" "00167488" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167489" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167490" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167491" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167492" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167493" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167494" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167495" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167496" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167497" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167498" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167499" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Relative (Aunt)" "" "" "Japan" "" "0" "" "" "" "" "00167500" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167501" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167502" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Relative (Sister)" "F" "" "Japan" "" "0" "" "" "" "" "00167503" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167504" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167505" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167506" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167507" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167508" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167509" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Relative (Mother)" "F" "" "Japan" "" "0" "" "" "" "" "00167510" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167511" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167512" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Relative (Sister)" "F" "" "Japan" "" "0" "" "" "" "" "00167513" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167514" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167515" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Relative (Brother)" "M" "" "Japan" "" "0" "" "" "" "" "00167516" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167517" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167518" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167519" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167520" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167521" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167522" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167523" "" "" "" "1" "" "02416" "{PMID:K.Tsukamoto 2003:14508505}" "Proband" "" "" "Japan" "" "0" "" "" "" "" "00167524" "" "" "" "1" "" "02416" "{PMID:S.Iwasaki 2006:16924389}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167525" "" "" "" "1" "" "02416" "{PMID:S.Iwasaki 2006:16924389}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167526" "" "" "" "1" "" "02416" "{PMID:S.Iwasaki 2006:16924389}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167527" "" "" "" "1" "" "02416" "{PMID:S.Iwasaki 2006:16924389}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167528" "" "" "" "1" "" "02416" "{PMID:S.Iwasaki 2006:16924389}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167529" "" "" "" "1" "" "02416" "{PMID:L.Fugazzola 2007:17766716}" "Proband, high intrafamilial phenotypic variability." "F" "" "Italy" "" "0" "" "" "" "" "00167530" "" "" "" "1" "" "02416" "{PMID:L.Fugazzola 2007:17766716}" "Relative (Brother), high intrafamilial phenotypic variability" "M" "" "Italy" "" "0" "" "" "" "" "00167531" "" "" "" "1" "" "02416" "{PMID:L.Fugazzola 2007:17766716}" "Relative (Brother), high intrafamilial phenotypic variability." "M" "" "Italy" "" "0" "" "" "" "" "00167532" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167533" "" "" "" "1" "" "02416" "{PMID:Huang S 2011:21961810}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167534" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167535" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167536" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167537" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167538" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167539" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167540" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167541" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167542" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167543" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167544" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167545" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167546" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167547" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167548" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167549" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167550" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "F" "" "Japan" "" "0" "" "" "" "" "00167551" "" "" "" "1" "" "02416" "{PMID:A. Ganaha 2013:23705809}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167552" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167553" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Relative" "M" "" "France" "" "0" "" "" "" "" "00167554" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167555" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167556" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Relative" "M" "" "France" "" "0" "" "" "" "" "00167557" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167558" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167559" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167560" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167561" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167562" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Relative" "M" "" "France" "" "0" "" "" "" "" "00167563" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167564" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167565" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167566" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167567" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Relative" "F" "" "France" "" "0" "" "" "" "" "00167568" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Relative" "F" "" "France" "" "0" "" "" "" "" "00167569" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167570" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167571" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167572" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167573" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167574" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167575" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167576" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167577" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167578" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167579" "" "" "" "1" "" "02416" "{PMID:M.Ladsous 2014:24224479}" "Proband" "F" "" "France" "" "0" "" "" "" "" "00167580" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167581" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167582" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167583" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167584" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167585" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167586" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167587" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167588" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167589" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167590" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00167591" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167592" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167593" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167594" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00167595" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167596" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167597" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167598" "" "" "" "1" "" "02416" "{PMID:V.de Moraes 2013:23273637}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167599" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167600" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00167601" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167602" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167603" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00167604" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167605" "" "" "" "1" "" "02416" "{PMID:B.Choi 2009:19204907}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00167606" "" "" "" "1" "" "02416" "{PMID:K.Sakurai 2013:23459462}" "Proband" "M" "" "Japan" "" "0" "" "" "" "" "00167607" "" "" "" "1" "" "02416" "{PMID:K.Sakurai 2013:23459462}" "Relative (Identical twin)" "M" "" "Japan" "" "0" "" "" "" "" "00167608" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00167609" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167610" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00167611" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00167612" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00167613" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00167614" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167615" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00167616" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Relative" "M" "" "Spain" "" "0" "" "" "" "" "00167617" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167618" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Relative" "M" "" "Spain" "" "0" "" "" "" "" "00167619" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "F" "" "Spain" "" "0" "" "" "" "" "00167620" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Relative" "M" "" "Spain" "" "0" "" "" "" "" "00167621" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167622" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Relative" "M" "" "Spain" "" "0" "" "" "" "" "00167623" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167624" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167625" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Relative" "M" "" "Spain" "" "0" "" "" "" "" "00167626" "" "" "" "1" "" "02416" "{PMID:A.Pera 2008:19017801}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167762" "" "" "" "1" "" "02427" "de Moraes 2016" "The patient also carries a monoallelic GJB2:c.35delG" "" "" "Brazil" "" "0" "" "" "" "" "00168029" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "M" "" "France" "" "0" "" "" "" "S1595" "00168030" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "F" "" "France" "" "0" "" "" "" "S1728" "00168033" "" "" "" "1" "" "02416" "{PMID:Baux 2017:29196752}" "Proband" "M" "" "France" "" "0" "" "" "" "S1536" "00294251" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294252" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294253" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294254" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294255" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294256" "" "" "" "136" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294257" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294258" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294260" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309862" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "HL003" "00335720" "" "" "" "1" "" "04006" "Karina Lezirovitz Lab" "" "F" "no" "Brazil" ">09y" "0" "" "" "Brazilian admixed" "" "00374351" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-898" "00380697" "" "" "" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "no" "Brazil" "" "" "" "" "" "S2" "00380698" "" "" "" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "no" "Brazil" "" "" "" "" "" "S9" "00380699" "" "" "" "2" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "no" "Brazil" "" "" "" "" "" "S10" "00380700" "" "" "00380699" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "no" "Brazil" "" "" "" "" "" "" "00380707" "" "" "" "1" "" "04006" "{PMID:Batissoco 2021:34599368}" "" "F" "" "Brazil" "" "" "" "" "" "S1" "00397407" "" "" "" "2" "" "00006" "{PMID:Choi 2013:23990876}" "family, 2 affected" "" "" "Korea" "" "0" "" "" "" "SB16-34" "00397408" "" "" "" "3" "" "00006" "{PMID:Choi 2013:23990876}" "family, 3 affected" "" "" "Korea" "" "0" "" "" "" "SB23-54" "00397409" "" "" "" "2" "" "00006" "{PMID:Choi 2013:23990876}" "family, 2 affected" "" "" "Korea" "" "0" "" "" "" "SB28-61" "00397410" "" "" "" "2" "" "00006" "{PMID:Choi 2013:23990876}" "family, 2 affected" "" "" "Korea" "" "0" "" "" "" "SJ07-7" "00397411" "" "" "" "2" "" "00006" "{PMID:Choi 2013:23990876}" "family, 2 affected" "" "" "Korea" "" "0" "" "" "" "SJ20-20" "00418598" "" "" "" "1" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Bahrain" "" "0" "" "" "Syria" "Fam4PatII1" "00438325" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat43" "00441107" "" "" "" "2" "" "00006" "{PMID:Ammar-Khodja 2015:26029705}" "5-generation family, affected sister/brother, unaffected heterozygous parents/relatives" "F;M" "yes" "Algeria" "" "0" "" "" "" "Fam3" "00441130" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamHL476" "00441357" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4465" "00441358" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4149B" "00441359" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "HL005" "00441360" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4549" "00441361" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4511" "00441362" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4014A" "00441363" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4436" "00441364" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4092" "00441365" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4152" "00441366" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4220" "00441367" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4241" "00441368" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4271" "00441369" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4290" "00441370" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4292" "00441371" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4293" "00441372" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4295" "00441373" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4296" "00441374" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4429" "00441375" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4482" "00441376" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4483" "00441377" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4523" "00441378" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4575" "00441379" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4726" "00441380" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4766" "00441381" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4192" "00441382" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4291" "00441383" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4481" "00441384" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4982" "00441385" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1161" "00441386" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1664" "00441387" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4186" "00441388" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4454" "00441389" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4455" "00441390" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4336" "00441391" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4109" "00441392" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF384b" "00441393" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF128" "00441394" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF910" "00441395" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4283" "00441396" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4355" "00441397" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4200" "00441398" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4004" "00441399" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4094A" "00441400" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4276" "00441401" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4574" "00441402" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4695" "00441403" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4702" "00441404" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4966" "00441405" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4286" "00441406" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4287" "00441407" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4294" "00441408" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4392" "00441409" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4425" "00441410" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4553" "00441602" "" "" "" "3" "" "00006" "{PMID:Park 2003:12676893}, {PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLRB10" "00441603" "" "" "" "2" "" "00006" "{PMID:Park 2003:12676893}, {PMID:Naz 2017:27573290}" "family, 2 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLRB2" "00441604" "" "" "" "5" "" "00006" "{PMID:Park 2003:12676893}, {PMID:Naz 2017:27573290}" "family, 5 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLRB7" "00441605" "" "" "" "4" "" "00006" "{PMID:Park 2003:12676893}, {PMID:Naz 2017:27573290}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLGM05" "00441606" "" "" "" "6" "" "00006" "{PMID:Park 2003:12676893}, {PMID:Naz 2017:27573290}" "family, 6 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-20" "00441607" "" "" "" "3" "" "00006" "{PMID:Kahrizi 2009:18813951}, {PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLGM16" "00441608" "" "" "" "4" "" "00006" "{PMID:Reardon 2000:10700480}, {PMID:Naz 2017:27573290}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-15" "00441609" "" "" "" "5" "" "00006" "{PMID:Reardon 2000:10700480}, {PMID:Naz 2017:27573290}" "family, 5 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-21" "00441610" "" "" "" "4" "" "00006" "{PMID:Reardon 2000:10700480}, {PMID:Naz 2017:27573290}" "family, 4 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAM01B" "00441611" "" "" "" "5" "" "00006" "{PMID:Reardon 2000:10700480}, {PMID:Naz 2017:27573290}" "family, 5 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAM06" "00441612" "" "" "" "3" "" "00006" "{PMID:Reardon 2000:10700480}, {PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAM10" "00441613" "" "" "" "2" "" "00006" "{PMID:Coyle 1998:9618167}, {PMID:Naz 2017:27573290}" "family, 2 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAM12A" "00441614" "" "" "" "1" "" "00006" "{PMID:Coyle 1998:9618167}, {PMID:Naz 2017:27573290}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAM12B" "00465492" "" "" "" "473" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465493" "" "" "" "39" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465494" "" "" "" "17" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465495" "" "" "" "6" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465496" "" "" "" "5" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465497" "" "" "" "5" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465498" "" "" "" "5" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465499" "" "" "" "4" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465500" "" "" "" "3" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465501" "" "" "" "3" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465502" "" "" "" "2" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465503" "" "" "" "2" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465504" "" "" "" "2" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465505" "" "" "" "2" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases 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"{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465514" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465515" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465516" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465517" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465518" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465519" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465520" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465521" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465522" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465523" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465524" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465525" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465526" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465527" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465528" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases 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"F;M" "" "Taiwan" "" "0" "" "" "" "DE2123" "00465536" "" "" "" "44" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465537" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465538" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" "00465591" "" "" "" "1" "" "00006" "{PMID:Lin 2019:30268946}" "" "" "" "Taiwan" "" "0" "" "" "" "DE1021" "00465594" "" "" "" "1" "" "00006" "{PMID:Lin 2019:30268946}" "" "" "" "Taiwan" "" "0" "" "" "" "DE1198" "00465596" "" "" "" "1" "" "00006" "{PMID:Lin 2019:30268946}" "" "" "" "Taiwan" "" "0" "" "" "" "DE6478" "00465992" "" "" "" "4" "" "04656" "" "" "" "" "Pakistan" "" "" "" "" "" "" "00465993" "" "" "" "4" "" "04656" "" "" "" "" "Pakistan" "" "" "" "" "" "" "00465994" "" "" "" "2" "" "04656" "" "" "" "" "Pakistan" "" "" "" "" "" "" "00465995" "" "" "" "2" "" "04656" "" "" "" "" "Pakistan" "" "" "" "" "" "" "00465996" "" "" "" "2" "" "04656" "" "" "" "" "Pakistan" "" "" "" "" "" "" "00467528" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "SPK3" "00467529" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "HLMS10" "00467530" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "HLRBS20" "00467531" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "HLMS02" "00467532" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "HLMS12" "00467533" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "HLRBS19" "00467534" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "SPK4" "00467535" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "SPK12" "00467536" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "HLMS23" "00467537" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "HLMS38" "00467538" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "HLMS26" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 506 "{{individualid}}" "{{diseaseid}}" "00059043" "00531" "00059044" "00531" "00059167" "00531" "00060266" "00531" "00060267" "00531" "00060268" "00531" "00080136" "05103" "00080146" "05103" "00080733" "00864" "00080743" "00864" "00080744" "00864" "00080745" "00864" "00080746" 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"00167454" "05400" "00167455" "05400" "00167456" "05400" "00167457" "05400" "00167458" "05400" "00167459" "05400" "00167460" "05400" "00167461" "02098" "00167462" "05400" "00167463" "05400" "00167464" "05400" "00167465" "05400" "00167466" "05400" "00167467" "05400" "00167468" "05400" "00167469" "05400" "00167470" "05400" "00167471" "05400" "00167472" "05400" "00167473" "02098" "00167474" "05400" "00167475" "02098" "00167476" "05400" "00167477" "02098" "00167478" "05400" "00167479" "05400" "00167480" "05400" "00167481" "05400" "00167482" "05400" "00167483" "05400" "00167484" "05400" "00167485" "05400" "00167486" "02098" "00167487" "02098" "00167488" "05400" "00167489" "05400" "00167490" "05400" "00167491" "05400" "00167492" "02098" "00167493" "05400" "00167494" "05400" "00167495" "05400" "00167496" "05400" "00167497" "02098" "00167498" "05400" "00167499" "05400" "00167500" "05400" "00167501" "05400" "00167502" "05400" "00167503" "05400" "00167504" "05400" "00167505" "05400" "00167506" 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"00167559" "02098" "00167560" "02098" "00167561" "02098" "00167562" "02098" "00167563" "02098" "00167564" "02098" "00167565" "02098" "00167566" "02098" "00167567" "02098" "00167568" "02098" "00167569" "02098" "00167570" "02098" "00167571" "05400" "00167572" "05400" "00167573" "05400" "00167574" "05400" "00167575" "05400" "00167576" "05400" "00167577" "05400" "00167578" "05400" "00167579" "05400" "00167580" "05400" "00167581" "05400" "00167582" "05400" "00167583" "05400" "00167584" "05400" "00167585" "05400" "00167586" "02098" "00167587" "05400" "00167588" "02098" "00167589" "05400" "00167590" "05400" "00167591" "05400" "00167592" "05400" "00167593" "05400" "00167594" "05400" "00167595" "05400" "00167596" "05400" "00167597" "05400" "00167598" "05400" "00167599" "05400" "00167600" "05400" "00167601" "05400" "00167602" "05400" "00167603" "05400" "00167604" "02098" "00167605" "05400" "00167606" "02098" "00167607" "02098" "00167608" "05400" "00167609" "05400" "00167610" "05458" "00167611" "05458" "00167612" "05458" "00167613" "05458" "00167614" "05458" "00167615" "02098" "00167616" "02098" "00167617" "02098" "00167618" "02098" "00167619" "02098" "00167620" "05400" "00167621" "05400" "00167622" "05400" "00167623" "05400" "00167624" "05400" "00167625" "05400" "00167626" "05458" "00167762" "05458" "00168029" "05400" "00168030" "05400" "00168033" "05400" "00294251" "00198" "00294252" "00198" "00294253" "00198" "00294254" "00198" "00294255" "00198" "00294256" "00198" "00294257" "00198" "00294258" "00198" "00294260" "00198" "00309862" "05086" "00335720" "05086" "00374351" "00198" "00380697" "05086" "00380698" "05086" "00380699" "05086" "00380700" "05086" "00380707" "05086" "00397407" "05086" "00397408" "05086" "00397409" "05086" "00397410" "05086" "00397411" "05086" "00418598" "00128" "00438325" "04270" "00441107" "05086" "00441130" "05086" "00441357" "05086" "00441358" "05086" "00441359" "05086" "00441360" "05086" "00441361" "05086" "00441362" "05086" "00441363" "05086" "00441364" "05086" "00441365" "05086" "00441366" "05086" "00441367" "05086" "00441368" "05086" "00441369" "05086" "00441370" "05086" "00441371" "05086" "00441372" "05086" "00441373" "05086" "00441374" "05086" "00441375" "05086" "00441376" "05086" "00441377" "05086" "00441378" "05086" "00441379" "05086" "00441380" "05086" "00441381" "05086" "00441382" "05086" "00441383" "05086" "00441384" "05086" "00441385" "05086" "00441386" "05086" "00441387" "05086" "00441388" "05086" "00441389" "05086" "00441390" "05086" "00441391" "05086" "00441392" "05086" "00441393" "05086" "00441394" "05086" "00441395" "05086" "00441396" "05086" "00441397" "05086" "00441398" "05086" "00441399" "05086" "00441400" "05086" "00441401" "05086" "00441402" "05086" "00441403" "05086" "00441404" "05086" "00441405" "05086" "00441406" "05086" "00441407" "05086" "00441408" "05086" "00441409" "05086" "00441410" "05086" "00441602" "05086" "00441603" "05086" "00441604" "05086" "00441605" "05086" "00441606" "05086" "00441607" "05086" "00441608" "05086" "00441609" "05086" "00441610" "05086" "00441611" "05086" "00441612" "05086" "00441613" "05086" "00441614" "05086" "00465492" "05086" "00465493" "05086" "00465494" "05086" "00465495" "05086" "00465496" "05086" "00465497" "05086" "00465498" "05086" "00465499" "05086" "00465500" "05086" "00465501" "05086" "00465502" "05086" "00465503" "05086" "00465504" "05086" "00465505" "05086" "00465506" "05086" "00465507" "05086" "00465508" "05086" "00465509" "05086" "00465510" "05086" "00465511" "05086" "00465512" "05086" "00465513" "05086" "00465514" "05086" "00465515" "05086" "00465516" "05086" "00465517" "05086" "00465518" "05086" "00465519" "05086" "00465520" "05086" "00465521" "05086" "00465522" "05086" "00465523" "05086" "00465524" "05086" "00465525" "05086" "00465526" "05086" "00465527" "05086" "00465528" "05086" "00465529" "05086" "00465530" "05086" "00465531" "05086" "00465532" "05086" "00465533" "05086" "00465534" "05086" "00465535" "05086" "00465536" "05086" "00465537" "05086" "00465538" "05086" "00465591" "05086" "00465594" "05086" "00465596" "05086" "00465992" "05400" "00465993" "05400" "00465994" "05400" "00465995" "05400" "00465996" "05400" "00467528" "05362" "00467529" "05362" "00467530" "05362" "00467531" "05362" "00467532" "05362" "00467533" "05362" "00467534" "05362" "00467535" "05362" "00467536" "05362" "00467537" "05362" "00467538" "05362" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00128, 00198, 00531, 00864, 02098, 04270, 05086, 05103, 05362, 05400, 05458 ## Count = 493 "{{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}}" "0000045632" "00531" "00059043" "01542" "Familial, autosomal recessive" "" "Congenital, profound, non-syndromic HL" "" "" "" "" "" "" "" "" "" "" "" "0000045633" "00531" "00059044" "01542" "Familial, autosomal recessive" "" "Congenital, moderate to severe hearing loss, Pendred" "" "" "" "" "" "" "" "" "" "" "" "0000046754" "00531" "00060266" "01542" "Familial, autosomal recessive" "" "Congenital, profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046755" "00531" "00060267" "01542" "Familial, autosomal recessive" "" "Congenital, profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046756" "00531" "00060268" "01542" "Familial, autosomal recessive" "" "Congenital, profound NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000060309" "00864" "00080733" "00006" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060319" "00864" "00080743" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060320" "00864" "00080744" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060321" "00864" "00080745" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060322" "00864" "00080746" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060323" "00864" "00080747" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060324" "00864" "00080748" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060325" "00864" "00080749" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060326" "00864" "00080750" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000060327" "00864" "00080751" "00006" "Unknown" "" "enlargement vestibular aqueduct with/without cochlear dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000066763" "00864" "00087237" "01817" "Isolated (sporadic)" "13y" "HP:0011387,HP:0000399,HP:0011476" "" "13y" "" "" "" "" "" "" "" "" "" "0000128934" "00864" "00163814" "02393" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000132149" "02098" "00167285" "02416" "Familial, autosomal recessive" "" "Profound HL,EVA,Mondini dysplasia,euthyroid multinodular goiter" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132150" "02098" "00167286" "02416" "Familial, autosomal recessive" "" "No Mondini dysplasia" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132151" "02098" "00167287" "02416" "Familial, autosomal recessive" "" "No Mondini dysplasia" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132152" "02098" "00167288" "02416" "Familial, autosomal recessive" "" "No mondini dysplasia" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132153" "02098" "00167289" "02416" "Familial, autosomal recessive" "" "No detailed informations concerning the phenotype in this case." "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132154" "02098" "00167290" "02416" "Familial, autosomal recessive" "" "Profound HL,EVA,Mondini dysplasia, euthyroid multinodular goiter" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132155" "02098" "00167291" "02416" "Familial, autosomal recessive" "" "Sever HL,euthyroid multinodular goiter,vestibular aqueduct examination not done." "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132156" "02098" "00167292" "02416" "Unknown" "" "Moderate HL,EVA,No goiter(age 8 years old)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132158" "02098" "00167294" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132159" "02098" "00167295" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132171" "02098" "00167307" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132172" "02098" "00167308" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132173" "02098" "00167309" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132174" "02098" "00167310" "02416" "Familial, autosomal recessive" "" "Vestibular aqueduct examination not performed." "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132175" "02098" "00167311" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132176" "05400" "00167312" "02416" "Unknown" "" "SNHL,isolated Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132177" "05400" "00167313" "02416" "Unknown" "" "SNHL,Inner ear malformation (not specified in this case) other than EVA and MD,No goiter." "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132178" "05400" "00167314" "02416" "Unknown" "" "SNHL,Inner ear malformation(not specified in this case) other than EVA and MD,No goiter." "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132179" "05400" "00167315" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132180" "05400" "00167316" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132181" "05400" "00167317" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132182" "05400" "00167318" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132183" "05400" "00167319" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132184" "05400" "00167320" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132185" "05400" "00167321" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132186" "05400" "00167322" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132187" "05400" "00167323" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132188" "05400" "00167324" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132189" "05400" "00167325" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132190" "05400" "00167326" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132191" "05400" "00167327" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132192" "05400" "00167328" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132193" "05400" "00167329" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132194" "05400" "00167330" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132195" "05400" "00167331" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132196" "05400" "00167332" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132197" "05400" "00167333" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132198" "05400" "00167334" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132199" "05400" "00167335" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132200" "05400" "00167336" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132201" "05400" "00167337" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132202" "05400" "00167338" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132203" "05400" "00167339" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132204" "05400" "00167340" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132205" "05400" "00167341" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132206" "05400" "00167342" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132207" "05400" "00167343" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132208" "05400" "00167344" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132209" "05400" "00167345" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132210" "05400" "00167346" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132211" "05400" "00167347" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132212" "05400" "00167348" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132213" "05400" "00167349" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132214" "05400" "00167350" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132215" "05400" "00167351" "02416" "Familial, autosomal recessive" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132216" "05400" "00167352" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132217" "05400" "00167353" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132218" "05400" "00167354" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132219" "05400" "00167355" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132220" "05400" "00167356" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132221" "05400" "00167357" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132222" "05400" "00167358" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132223" "05400" "00167359" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132224" "05400" "00167360" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132225" "05400" "00167361" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132226" "05400" "00167362" "02416" "Unknown" "" "SNHL,EVA,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132227" "05400" "00167363" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132228" "05400" "00167364" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132229" "05400" "00167365" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132230" "05400" "00167366" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132231" "05400" "00167367" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132232" "05400" "00167368" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132233" "05400" "00167369" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132234" "05400" "00167370" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132235" "05400" "00167371" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132236" "05400" "00167372" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132237" "05400" "00167373" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132238" "05400" "00167374" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132239" "05400" "00167375" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132240" "05400" "00167376" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132241" "05400" "00167377" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132242" "05400" "00167378" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132243" "05400" "00167379" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132244" "05400" "00167380" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132245" "05400" "00167381" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132246" "05400" "00167382" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132247" "05400" "00167383" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132248" "05400" "00167384" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132249" "05400" "00167385" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132250" "05400" "00167386" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132251" "05400" "00167387" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132252" "05400" "00167388" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132253" "05400" "00167389" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132254" "05400" "00167390" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132255" "05400" "00167391" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132256" "05400" "00167392" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132257" "05400" "00167393" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132258" "05400" "00167394" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132259" "05400" "00167395" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132260" "05400" "00167396" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132261" "05400" "00167397" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132262" "05400" "00167398" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132263" "05400" "00167399" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132264" "05400" "00167400" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132265" "05400" "00167401" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132266" "05400" "00167402" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132267" "05400" "00167403" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132268" "05400" "00167404" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132269" "05400" "00167405" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132270" "05400" "00167406" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132271" "05400" "00167407" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132272" "05400" "00167408" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132273" "05400" "00167409" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132274" "05400" "00167410" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132275" "05400" "00167411" "02416" "Familial, autosomal recessive" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132276" "05400" "00167412" "02416" "Unknown" "" "SNHL,EVA with Mondini dysplasia,No goiter" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132277" "02098" "00167413" "02416" "Unknown" "" "Hypothyroid goiter." "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132278" "02098" "00167414" "02416" "Unknown" "" "No thyroid abnormalities (age 17y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132279" "02098" "00167415" "02416" "Familial, autosomal recessive" "" "Positive PDT,high anti-TPO antibodies,No goiter (age 12y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132280" "02098" "00167416" "02416" "Unknown" "" "No thyroid abnormalities (Age 42y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132281" "02098" "00167417" "02416" "Unknown" "" "Goiter,positive PDT,high anti-TPO antibodies" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132282" "02098" "00167418" "02416" "Familial, autosomal recessive" "" "No thyroid abnormalities (age 27y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132283" "02098" "00167419" "02416" "Familial, autosomal recessive" "" "High serum thyroglobulin (Tg) level, No goiter (age 12y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132284" "02098" "00167420" "02416" "Unknown" "" "No thyroid abnormalities (age 14y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132285" "02098" "00167421" "02416" "Unknown" "" "Goiter, high serum thyroglobulin (Tg) level" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132286" "02098" "00167422" "02416" "Unknown" "" "No thyroid abnormalities (age 12y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132287" "02098" "00167423" "02416" "Unknown" "" "Post-lingual (started at age of 10y), progressive hearing loss." "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132288" "02098" "00167424" "02416" "Unknown" "" "No goiter (age 21y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132289" "02098" "00167425" "02416" "Unknown" "" "Hypothyroidism, radiological examination of vestibular aqueduct is not available." "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132290" "02098" "00167426" "02416" "Familial, autosomal recessive" "" "Hypothyroidism,radiological examination of vestibular aqueduct is not available" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132291" "02098" "00167427" "02416" "Unknown" "" "No goiter, age and radiological examination of vestibular aqueduct are not available." "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132292" "02098" "00167428" "02416" "Unknown" "" "Radiological examination of vestibular aqueduct is not available" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132293" "02098" "00167429" "02416" "Familial, autosomal recessive" "" "No goiter, age and radiological examination of vestibular aqueduct are not available" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132294" "02098" "00167430" "02416" "Unknown" "" "Radiological examination of vestibular aqueduct is not available" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132295" "02098" "00167431" "02416" "Familial, autosomal recessive" "" "Mondini dysplasia, No thyroid abnormalities, age (4-13y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132296" "02098" "00167432" "02416" "Familial, autosomal recessive" "" "Mondini dysplasia, No thyroid abnormalities, age (4-13y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132297" "02098" "00167433" "02416" "Familial, autosomal recessive" "" "Mondini dysplasia, No thyroid abnormalities, age (4-13y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132298" "02098" "00167434" "02416" "Familial, autosomal recessive" "" "Mondini dysplasia, No thyroid abnormalities, age (4-13y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132299" "02098" "00167435" "02416" "Unknown" "" "Mondini dysplasia, No thyroid abnormalities, age (4-13y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132300" "02098" "00167436" "02416" "Familial, autosomal recessive" "" "Mondini dysplasia, No thyroid abnormalities, age (4-13y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132301" "02098" "00167437" "02416" "Unknown" "" "Mondini dysplasia, No thyroid abnormalities, age (4-13y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132302" "02098" "00167438" "02416" "Unknown" "" "Mondini dysplasia, No thyroid abnormalities, age (4-13y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132303" "02098" "00167439" "02416" "Familial, autosomal recessive" "" "Mondini dysplasia, No thyroid abnormalities, age (4-13y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132304" "02098" "00167440" "02416" "Unknown" "" "Mondini dysplasia, No thyroid abnormalities, age (4-13y)" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132309" "05400" "00167445" "02416" "Unknown" "" "Age 42 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132310" "05400" "00167446" "02416" "Unknown" "" "Age 17 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132312" "05400" "00167448" "02416" "Unknown" "" "Age 13 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132315" "05400" "00167451" "02416" "Unknown" "" "Unilateral EVA, age 4 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132316" "05400" "00167452" "02416" "Unknown" "" "Age 23 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132317" "05400" "00167453" "02416" "Unknown" "" "Age 4 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132318" "05400" "00167454" "02416" "Familial, autosomal recessive" "" "Age 19 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132319" "05400" "00167455" "02416" "Unknown" "" "Age 4 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132320" "05400" "00167456" "02416" "Unknown" "" "Age 5 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132321" "05400" "00167457" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132322" "05400" "00167458" "02416" "Unknown" "" "Moderate SNHL, age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132323" "05400" "00167459" "02416" "Unknown" "" "Mondini dysplasia,age 9 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132324" "05400" "00167460" "02416" "Unknown" "" "Asymmetric moderate/profounf SNHL,Mondini dysplasia,age 11 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132325" "02098" "00167461" "02416" "Unknown" "" "Mondini dysplasia" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132326" "05400" "00167462" "02416" "Unknown" "" "Moderate to sever SNHL,Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132327" "05400" "00167463" "02416" "Unknown" "" "Age 6 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132328" "05400" "00167464" "02416" "Unknown" "" "Moderate SNHL, Age 3 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132329" "05400" "00167465" "02416" "Unknown" "" "Age 23 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132330" "05400" "00167466" "02416" "Unknown" "" "Small ears with over-folded helix, Age 17 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132331" "05400" "00167467" "02416" "Unknown" "" "Small ears with over-folded helix, Age 14 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132332" "05400" "00167468" "02416" "Unknown" "" "Small ears with over-folded helix, Age 8 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132333" "05400" "00167469" "02416" "Familial, autosomal recessive" "" "Age 6 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132334" "05400" "00167470" "02416" "Familial, autosomal recessive" "" "Age 2 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132335" "05400" "00167471" "02416" "Unknown" "" "Mondini dysplasia, Age 5 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132336" "05400" "00167472" "02416" "Unknown" "" "No inner ear malformations, Age 5 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132337" "02098" "00167473" "02416" "Unknown" "" "Mondini dysplasia, abnormal malleus" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132338" "05400" "00167474" "02416" "Unknown" "" "Mondini dysplasia, preauricular pit, Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132339" "02098" "00167475" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132340" "05400" "00167476" "02416" "Unknown" "" "Mondini dysplasia, Age 5 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132341" "02098" "00167477" "02416" "Unknown" "" "Mondini dysplasia" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132342" "05400" "00167478" "02416" "Unknown" "" "Asymetric SNHL (L:sever,R:moderate), Age 4 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132343" "05400" "00167479" "02416" "Unknown" "" "Age 12 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132344" "05400" "00167480" "02416" "Unknown" "" "Age 8 yaers old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132345" "05400" "00167481" "02416" "Unknown" "" "Age 6 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132346" "05400" "00167482" "02416" "Unknown" "" "Age 1 year old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132347" "05400" "00167483" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132348" "05400" "00167484" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132349" "05400" "00167485" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132350" "02098" "00167486" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132351" "02098" "00167487" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132352" "05400" "00167488" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132353" "05400" "00167489" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132354" "05400" "00167490" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132355" "05400" "00167491" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132356" "02098" "00167492" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132357" "05400" "00167493" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132358" "05400" "00167494" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132359" "05400" "00167495" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132360" "05400" "00167496" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132361" "02098" "00167497" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132362" "05400" "00167498" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132363" "05400" "00167499" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132364" "05400" "00167500" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132365" "05400" "00167501" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132366" "05400" "00167502" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132367" "05400" "00167503" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132368" "05400" "00167504" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132369" "05400" "00167505" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132370" "05400" "00167506" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132371" "05400" "00167507" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132372" "05400" "00167508" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132373" "05400" "00167509" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132374" "05400" "00167510" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132375" "05400" "00167511" "02416" "Familial, autosomal recessive" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132376" "05400" "00167512" "02416" "Familial, autosomal recessive" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132377" "02098" "00167513" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132378" "05400" "00167514" "02416" "Familial, autosomal recessive" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132379" "05400" "00167515" "02416" "Familial, autosomal recessive" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132380" "02098" "00167516" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132381" "02098" "00167517" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132382" "02098" "00167518" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132383" "05400" "00167519" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132384" "02098" "00167520" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132385" "02098" "00167521" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132386" "05400" "00167522" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132387" "05400" "00167523" "02416" "Unknown" "" "Age unknown" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132388" "05400" "00167524" "02416" "Unknown" "" "Age 2 years old, Vertigo, mild language disturbance, high FT3 (mild) and serum Thyroglobulin." "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132389" "05400" "00167525" "02416" "Unknown" "" "Vertigo, asthma, mild language disturbance, high serum thyroglobulin, Age 1.1 year old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132390" "05400" "00167526" "02416" "Unknown" "" "Mild language disturbance, high serum FT3 (mild) and Thyroglobulin, Age 1.1 year old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132391" "05400" "00167527" "02416" "Unknown" "" "Vertigo, sever language disturbance, high serum FT3 (mild) and Thyroglobulin, Age 1.3 year old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132392" "05400" "00167528" "02416" "Unknown" "" "Vertigo, sever language disturbance, high serum FT3 (mild) and Thyroglobulin ,Age 0.8 year old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132393" "02098" "00167529" "02416" "Unknown" "" "Mild hypothyroidism, bilateral renal atrophy, PDT positive, Age 45 years old" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132394" "02098" "00167530" "02416" "Unknown" "" "Hypothyroidism, No goiter, PDT positive, low IQ, language disturbances, Age 44 years old" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132395" "02098" "00167531" "02416" "Unknown" "" "Subclinical hypothyroidism, DPT positive, Age 42 years old" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132396" "05400" "00167532" "02416" "Familial, autosomal recessive" "" "Mondini dysplasia, Age 3 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132397" "02098" "00167533" "02416" "Familial, autosomal recessive" "" "Mondini dysplasia" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132398" "02098" "00167534" "02416" "Familial, autosomal recessive" "" "Mondini dysplasia" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132399" "02098" "00167535" "02416" "Familial, autosomal recessive" "" "Vertigo" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132400" "02098" "00167536" "02416" "Unknown" "" "Vertigo, Mondini dysplasia" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132401" "02098" "00167537" "02416" "Familial, autosomal recessive" "" "Vertigo, Mondini dysplasia" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132402" "05400" "00167538" "02416" "Familial, autosomal recessive" "" "Mondini dysplasia, Age 1 year old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132403" "05400" "00167539" "02416" "Familial, autosomal recessive" "" "Age 1 year old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132404" "05400" "00167540" "02416" "Familial, autosomal recessive" "" "Mondini dyplasia, Age 2 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132405" "02098" "00167541" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132406" "05400" "00167542" "02416" "Familial, autosomal recessive" "" "Mondini dysplasia, Age 29 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132407" "05400" "00167543" "02416" "Unknown" "" "Vertigo, newborn" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132408" "05400" "00167544" "02416" "Unknown" "" "Mondini dysplasia (left), Vertigo, Age 3 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132409" "05400" "00167545" "02416" "Unknown" "" "Mondini dysplasia, Vertigo, Age 5 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132410" "05400" "00167546" "02416" "Unknown" "" "Mondini dysplasia, Age 5 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132411" "05400" "00167547" "02416" "Unknown" "" "Vertigo, Age 6 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132412" "05400" "00167548" "02416" "Unknown" "" "Age 7 years old" "" "" "" "" "" "" "" "" "DFNB-7" "deafness" "" "0000132413" "02098" "00167549" "02416" "Unknown" "" "Mondini dysplasia" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132414" "02098" "00167550" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132415" "05400" "00167551" "02416" "Unknown" "" "Vertigo, Age 26 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132416" "02098" "00167552" "02416" "Unknown" "" "Nodular goiter, hypothyroidism, cochlear dysplasia, PDT positive." "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132417" "02098" "00167553" "02416" "Unknown" "" "Nodular goiter, hypothyroidism, PDT positive" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132418" "02098" "00167554" "02416" "Unknown" "" "Nodular goiter, hypothyroidism, PDT positive" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132419" "02098" "00167555" "02416" "Unknown" "" "Nodular goiter, congenital hypothyroidism, PDT positive" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132420" "02098" "00167556" "02416" "Unknown" "" "Nodular goiter, hypothyroidism, PDT positive, high thyroglobulin" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132421" "02098" "00167557" "02416" "Unknown" "" "Cochlear dysplasia, congenital hypothyroidism, PDT positive, No goiter, high thyroglobulin" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132422" "02098" "00167558" "02416" "Familial, autosomal recessive" "" "Cochlear dysplasia, congenital hypothyroidism, PDT positive, high thyroglobulin" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132423" "02098" "00167559" "02416" "Unknown" "" "Cochlear dysplasia, nodular goiter, congenital hypothyroidism, high thyroglobulin, PDT negatine" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132424" "02098" "00167560" "02416" "Unknown" "" "Nodular goiter, congenital hypothyroidism, PDT not done" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132425" "02098" "00167561" "02416" "Unknown" "" "Nodular thyroid, subclinical hypothyroidism, PDT positive" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132426" "02098" "00167562" "02416" "Unknown" "" "Nodular goiter, hypothyroidism, PDT positive" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132427" "02098" "00167563" "02416" "Unknown" "" "Hypothyroidism, PDT not done" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132428" "02098" "00167564" "02416" "Unknown" "" "Cochlear dysplasia, congenital hypothyroidism, No goiter, PDT negative, high thyroglobulin" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132429" "02098" "00167565" "02416" "Familial, autosomal recessive" "" "Cochlear hypoplasia, nodular goiter, hypothyroidism, high thyroglobulin, PDT negative" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132430" "02098" "00167566" "02416" "Unknown" "" "Nodular euthyeoid goiter, high thyroglobulin, PDT negative" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132431" "02098" "00167567" "02416" "Unknown" "" "Papillary microcarcinoma, No goiter, euthyroid, PDT not done" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132432" "02098" "00167568" "02416" "Unknown" "" "Nodular euthyroid goiter, PDT not done" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132433" "02098" "00167569" "02416" "Unknown" "" "Nodular goiter, hypothyroidism, high thuroglobulin, PDT negative" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132434" "02098" "00167570" "02416" "Unknown" "" "Cochlear dysplasia, nodular euthyroid goiter, PDT positive, high thyroglobulin" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132435" "05400" "00167571" "02416" "Unknown" "" "Age 19 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132436" "05400" "00167572" "02416" "Unknown" "" "Age 48 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132437" "05400" "00167573" "02416" "Unknown" "" "Age 47 years old, high thyroglobulin" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132438" "05400" "00167574" "02416" "Unknown" "" "Age 10 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132439" "05400" "00167575" "02416" "Unknown" "" "Age 16 years old, high thyroglobulin" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132440" "05400" "00167576" "02416" "Unknown" "" "Cochlear dysplasia, Age 11 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132441" "05400" "00167577" "02416" "Unknown" "" "Age 11 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132442" "05400" "00167578" "02416" "Unknown" "" "Age 8 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132443" "05400" "00167579" "02416" "Unknown" "" "Age 6 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132444" "05400" "00167580" "02416" "Unknown" "" "Unilateral EVA (right), PDT not done, Age 8 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132445" "05400" "00167581" "02416" "Unknown" "" "PDT not done, Age 11 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132446" "05400" "00167582" "02416" "Familial, autosomal recessive" "" "PDT not done, Age 9 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132447" "05400" "00167583" "02416" "Unknown" "" "PDT not done, Age 1 year old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132448" "05400" "00167584" "02416" "Unknown" "" "PDT not done, Age 2 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132449" "05400" "00167585" "02416" "Unknown" "" "PDT not done, Age 23 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132450" "02098" "00167586" "02416" "Unknown" "" "PDT negative" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132451" "05400" "00167587" "02416" "Unknown" "" "PDT not done, Age 5 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132452" "02098" "00167588" "02416" "Unknown" "" "PDT positive" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132453" "05400" "00167589" "02416" "Unknown" "" "PDT not done, Age 2 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132454" "05400" "00167590" "02416" "Unknown" "" "Unilateral EVA (right), PDT not done, Age 5 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132455" "05400" "00167591" "02416" "Unknown" "" "PDT negative, Age 6 yaers old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132456" "05400" "00167592" "02416" "Unknown" "" "Age 5 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132457" "05400" "00167593" "02416" "Unknown" "" "PDT uninterpretable, Age 2 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132458" "05400" "00167594" "02416" "Unknown" "" "PDT not done, Age 1 year old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132459" "05400" "00167595" "02416" "Unknown" "" "PDT not done, age 14 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132460" "05400" "00167596" "02416" "Unknown" "" "PDT negative, Age 3 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132461" "05400" "00167597" "02416" "Unknown" "" "PDT not done, Age 6 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132462" "05400" "00167598" "02416" "Unknown" "" "Unilteral (left) EVA, PDT not done, Age 13 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132463" "05400" "00167599" "02416" "Unknown" "" "Age 8 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132464" "05400" "00167600" "02416" "Unknown" "" "Thyroid phenotype indetreminate, Age 8 months old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132465" "05400" "00167601" "02416" "Unknown" "" "PDT negative, Age 5 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132466" "05400" "00167602" "02416" "Unknown" "" "Indeterminate thyroid phenotype, Age 7 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132467" "05400" "00167603" "02416" "Unknown" "" "Indeterminate thyroid phenotype, Age 4 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132468" "02098" "00167604" "02416" "Unknown" "" "PDT negative" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132469" "05400" "00167605" "02416" "Unknown" "" "PDT not done, Age 2 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132470" "02098" "00167606" "02416" "Unknown" "" "Follicular variant of papillary thyroid carcinoma, hypothyroidism, high thyroglobulin." "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132471" "02098" "00167607" "02416" "Unknown" "" "Euthyroid multinodular goiter,high thyroglobulin" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132472" "05400" "00167608" "02416" "Unknown" "" "Age 44 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132473" "05400" "00167609" "02416" "Unknown" "" "Mondini dysplasia, Age 14 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132474" "05458" "00167610" "02416" "Unknown" "" "Sever SNHL, No inner ear malformation, No thyroid abnormalities, Age 2 years old" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132475" "05458" "00167611" "02416" "Unknown" "" "Moderate SNHL, No inner ear malformation, No thyroid abnormalities, Age 5 years old" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132476" "05458" "00167612" "02416" "Unknown" "" "Profound SNHL, No inner ear malformations, No thyroid abnormalities, Age 5 years old" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132477" "05458" "00167613" "02416" "Unknown" "" "Moderate SNHL, No inner ear malformations, No thyroid anbormalities, Age 7 years old" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132478" "05458" "00167614" "02416" "Unknown" "" "Profound SNHL, No inner ear malformations, No thyroid abnormalities, Age 14 years old" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132479" "02098" "00167615" "02416" "Unknown" "" "Mondini dysplasia, hyperthyroidism" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132480" "02098" "00167616" "02416" "Unknown" "" "Mondini dysplasia, hyperthyroidism" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132481" "02098" "00167617" "02416" "Unknown" "" "Hyperthroidism" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132482" "02098" "00167618" "02416" "Unknown" "" "Hyperthyroidism, PDT positive" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132483" "02098" "00167619" "02416" "Unknown" "" "PDT positive" "" "" "" "" "" "" "" "" "" "Pendred syndrome" "" "0000132484" "05400" "00167620" "02416" "Unknown" "" "Age 17 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132485" "05400" "00167621" "02416" "Unknown" "" "Age 8 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132486" "05400" "00167622" "02416" "Unknown" "" "Age 4 year old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132487" "05400" "00167623" "02416" "Unknown" "" "Age 2 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132488" "05400" "00167624" "02416" "Unknown" "" "Age 22 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132489" "05400" "00167625" "02416" "Unknown" "" "Age 19 years old" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132490" "05458" "00167626" "02416" "Unknown" "" "Profound SNHL, No inner ear malformations, No thyroid abnormalities, Age 1 year old" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132626" "05458" "00167762" "02427" "Unknown" "" "no EVA" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "0000132893" "05400" "00168029" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132894" "05400" "00168030" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB-4" "deafness" "" "0000132897" "05400" "00168033" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "DFNB-18" "deafness" "" "0000235177" "05086" "00309862" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PDS" "Pendred syndrome" "" "0000253640" "05086" "00335720" "04006" "Isolated (sporadic)" "04y" "HP:0000376, HP:0008527, HP:0008619" "00y00m" "00y01m" "0m" "" "" "" "" "" "" "" "" "0000269561" "00198" "00374351" "00006" "Familial, autosomal recessive" "" "Seizures, global developmental delay, sparse scalp hair, no social smile and eye contact. Electroencephalogram revealed hypsarrhythmia, suggesting epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000274554" "05086" "00380707" "04006" "Isolated (sporadic)" "" "Mondini + EVA - Pendred Syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000274555" "05086" "00380697" "04006" "Isolated (sporadic)" "" "non-syndromic enlarged vestibular aqueduct" "" "" "" "" "" "" "" "" "" "" "" "0000274556" "05086" "00380698" "04006" "Unknown" "" "non-syndromic enlarged vestibular aqueduct" "" "" "" "" "" "" "" "" "" "" "" "0000274557" "05086" "00380699" "04006" "Familial, autosomal recessive" "" "Familial Perilingual progressive HL (onset: 2yo; profound: 13yo) + Mondini + EVA - Pendred syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000274559" "05086" "00380700" "04006" "Familial, autosomal recessive" "" "Mondini + EVA - Pendred syndrome (onset: 8 mo, profound: 5yo) also homozygous, parents heterozygous" "" "" "" "" "" "" "" "" "" "" "" "0000290545" "05086" "00397407" "00006" "Familial, autosomal dominant" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000290546" "05086" "00397408" "00006" "Familial, autosomal dominant" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000290547" "05086" "00397409" "00006" "Familial, autosomal dominant" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000290548" "05086" "00397410" "00006" "Familial, autosomal dominant" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000290549" "05086" "00397411" "00006" "Familial, autosomal dominant" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000309934" "00128" "00418598" "00006" "Familial, autosomal recessive" "" "failure to thrive, weight 5th percentile; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, severe pneumonia; no immunological abnormalities; no gastroenteric abnormalities; no cardiovascular abnormalities; otitis media, sensorineural hearing impairment (cochlear implant)" "01y" "" "" "" "" "" "" "" "" "cystic fibrosis" "" "0000328229" "04270" "00438325" "00006" "Unknown" "" "HP:0001250 seizures; HP:0008554 cochlear malformation" "7y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000330547" "05086" "00441107" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "profound deafness, enlarged vestibular aqueduct" "" "0000330570" "05086" "00441130" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330797" "05086" "00441357" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330798" "05086" "00441358" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330799" "05086" "00441359" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330800" "05086" "00441360" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330801" "05086" "00441361" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330802" "05086" "00441362" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330803" "05086" "00441363" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330804" "05086" "00441364" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330805" "05086" "00441365" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330806" "05086" "00441366" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330807" "05086" "00441367" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330808" "05086" "00441368" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330809" "05086" "00441369" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330810" "05086" "00441370" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330811" "05086" "00441371" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330812" "05086" "00441372" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330813" "05086" "00441373" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330814" "05086" "00441374" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330815" "05086" "00441375" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330816" "05086" "00441376" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330817" "05086" "00441377" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330818" "05086" "00441378" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330819" "05086" "00441379" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330820" "05086" "00441380" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330821" "05086" "00441381" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330822" "05086" "00441382" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330823" "05086" "00441383" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330824" "05086" "00441384" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330825" "05086" "00441385" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330826" "05086" "00441386" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330827" "05086" "00441387" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330828" "05086" "00441388" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330829" "05086" "00441389" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330830" "05086" "00441390" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330831" "05086" "00441391" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330832" "05086" "00441392" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330833" "05086" "00441393" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330834" "05086" "00441394" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330835" "05086" "00441395" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330836" "05086" "00441396" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330837" "05086" "00441397" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330838" "05086" "00441398" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330839" "05086" "00441399" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330840" "05086" "00441400" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330841" "05086" "00441401" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330842" "05086" "00441402" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330843" "05086" "00441403" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330844" "05086" "00441404" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330845" "05086" "00441405" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330846" "05086" "00441406" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330847" "05086" "00441407" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330848" "05086" "00441408" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330849" "05086" "00441409" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330850" "05086" "00441410" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331011" "05086" "00441602" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331012" "05086" "00441603" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331013" "05086" "00441604" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331014" "05086" "00441605" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331015" "05086" "00441606" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331016" "05086" "00441607" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331017" "05086" "00441608" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331018" "05086" "00441609" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331019" "05086" "00441610" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331020" "05086" "00441611" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331021" "05086" "00441612" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331022" "05086" "00441613" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331023" "05086" "00441614" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351040" "05086" "00465492" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351041" "05086" "00465493" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351042" "05086" "00465494" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351043" "05086" "00465495" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351044" "05086" "00465496" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351045" "05086" "00465497" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351046" "05086" "00465498" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351047" "05086" "00465499" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351048" "05086" "00465500" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351049" "05086" "00465501" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351050" "05086" "00465502" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351051" "05086" "00465503" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351052" "05086" "00465504" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351053" "05086" "00465505" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351054" "05086" "00465506" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351055" "05086" "00465507" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351056" "05086" "00465508" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351057" "05086" "00465509" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351058" "05086" "00465510" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351059" "05086" "00465511" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351060" "05086" "00465512" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351061" "05086" "00465513" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351062" "05086" "00465514" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351063" "05086" "00465515" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351064" "05086" "00465516" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351065" "05086" "00465517" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351066" "05086" "00465518" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351067" "05086" "00465519" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351068" "05086" "00465520" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351069" "05086" "00465521" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351070" "05086" "00465522" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351071" "05086" "00465523" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351072" "05086" "00465524" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351073" "05086" "00465525" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351074" "05086" "00465526" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351075" "05086" "00465527" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351076" "05086" "00465528" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351077" "05086" "00465529" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351078" "05086" "00465530" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351079" "05086" "00465531" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351080" "05086" "00465532" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351081" "05086" "00465533" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351082" "05086" "00465534" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351083" "05086" "00465535" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" "0000351084" "05086" "00465536" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351085" "05086" "00465537" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351086" "05086" "00465538" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000351139" "05086" "00465591" "00006" "Familial, autosomal recessive" "" "see paper; ..., deafness, enlarged vestibular aqueduct" "" "" "" "" "" "" "" "" "DFNB4" "deafness" "" "0000351141" "05086" "00465594" "00006" "Familial, autosomal recessive" "" "see paper; ..., deafness, enlarged vestibular aqueduct" "" "" "" "" "" "" "" "" "DFNB4" "deafness" "" "0000351143" "05086" "00465596" "00006" "Familial, autosomal recessive" "" "see paper; ..., deafness, enlarged vestibular aqueduct" "" "" "" "" "" "" "" "" "DFNB4" "deafness" "" "0000351380" "05400" "00465992" "04656" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing Loss" "" "0000351381" "05400" "00465993" "04656" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing Loss" "" "0000351382" "05400" "00465994" "04656" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing Loss" "" "0000351383" "05400" "00465995" "04656" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Hearing Loss" "" "0000352738" "05362" "00467528" "04656" "Familial, autosomal recessive" "" "profound hearing loss (progressive)" "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" "0000352739" "05362" "00467529" "04656" "Familial, autosomal recessive" "" "severe hearing loss" "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" "0000352740" "05362" "00467530" "04656" "Familial, autosomal recessive" "" "severe hearing loss, asymmetric" "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" "0000352741" "05362" "00467531" "04656" "Familial, autosomal recessive" "" "moderate-severe hearing loss (progressive)" "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" "0000352742" "05362" "00467532" "04656" "Familial, autosomal recessive" "" "moderate-severe hearing loss" "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" "0000352743" "05362" "00467533" "04656" "Familial, autosomal recessive" "" "severe hearing loss" "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" "0000352744" "05362" "00467534" "04656" "Familial, autosomal recessive" "" "severe hearing loss" "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" "0000352745" "05362" "00467535" "04656" "Familial, autosomal recessive" "" "severe hearing loss" "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" "0000352746" "05362" "00467536" "04656" "Familial, autosomal recessive" "" "severe hearing loss" "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" "0000352747" "05362" "00467537" "04656" "Familial, autosomal recessive" "" "moderate hearing loss, asymmetric" "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" "0000352748" "05362" "00467538" "04656" "Familial, autosomal recessive" "" "moderate-severe hearing loss" "" "" "" "" "" "" "" "" "DFNB4" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 506 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059009" "00059043" "1" "01542" "01542" "2016-02-18 23:52:22" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059010" "00059044" "1" "01542" "01542" "2016-02-19 00:12:47" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059149" "00059167" "1" "01551" "01551" "2016-02-29 12:55:27" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060251" "00060266" "1" "01542" "01542" "2016-03-23 10:19:33" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060253" "00060267" "1" "01542" "01542" "2016-03-23 10:49:37" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060254" "00060268" "1" "01542" "01542" "2016-03-23 11:03:38" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000080230" "00080136" "1" "01740" "01740" "2016-09-02 08:46:43" "" "" "SEQ-NG" "DNA" "" "" "0000080240" "00080146" "1" "01740" "01740" "2016-09-02 09:34:31" "" "" "SEQ-NG" "DNA" "" "" "0000080829" "00080733" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "SEQ" "DNA" "" "" "0000080856" "00080743" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080857" "00080744" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080858" "00080745" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080859" "00080746" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080860" "00080747" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080861" "00080748" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080862" "00080749" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080863" "00080750" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000080864" "00080751" "1" "00006" "00006" "2016-09-09 15:19:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000087376" "00087237" "1" "01817" "01817" "2016-11-17 03:39:22" "01817" "2016-11-17 04:54:59" "SEQ-NG-I" "DNA" "" "" "0000164676" "00163814" "1" "02393" "02393" "2018-04-13 11:02:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000168164" "00167285" "1" "02416" "02416" "2014-02-13 15:07:51" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168165" "00167286" "1" "02416" "02416" "2014-02-13 15:18:12" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168166" "00167287" "1" "02416" "02416" "2014-02-13 15:21:12" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168167" "00167288" "1" "02416" "02416" "2014-02-13 15:32:37" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168168" "00167289" "1" "02416" "02416" "2014-02-13 15:37:15" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168169" "00167290" "1" "02416" "02416" "2014-02-13 15:41:31" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168170" "00167291" "1" "02416" "02416" "2014-02-13 15:43:37" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168171" "00167292" "1" "02416" "02416" "2014-02-13 15:49:48" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168173" "00167294" "1" "02416" "02416" "2014-02-14 12:09:24" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168174" "00167295" "1" "02416" "02416" "2014-02-14 12:13:56" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168186" "00167307" "1" "02416" "02416" "2014-05-22 15:50:17" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168187" "00167308" "1" "02416" "02416" "2014-05-22 15:52:47" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168188" "00167309" "1" "02416" "02416" "2014-05-22 15:57:24" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168189" "00167310" "1" "02416" "02416" "2014-05-23 15:46:02" "00110" "2014-06-10 17:48:38" "SEQ" "DNA" "" "" "0000168190" "00167311" "1" "02416" "02416" "2014-05-26 14:43:39" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168191" "00167312" "1" "02416" "02416" "2014-05-27 14:56:30" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168192" "00167313" "1" "02416" "02416" "2014-05-27 15:12:16" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168193" "00167314" "1" "02416" "02416" "2014-05-27 16:26:14" "00110" "2014-08-14 17:24:01" "SEQ" "DNA" "" "" "0000168194" "00167315" "1" "02416" "02416" "2014-05-28 15:25:18" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168195" "00167316" "1" "02416" "02416" "2014-05-28 15:32:37" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168196" "00167317" "1" "02416" "02416" "2014-05-28 15:43:45" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168197" "00167318" "1" "02416" "02416" "2014-05-28 15:47:53" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168198" "00167319" "1" "02416" "02416" "2014-05-28 15:57:07" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168199" "00167320" "1" "02416" "02416" "2014-05-28 16:00:02" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168200" "00167321" "1" "02416" "02416" "2014-05-28 16:04:45" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168201" "00167322" "1" "02416" "02416" "2014-05-28 16:07:57" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168202" "00167323" "1" "02416" "02416" "2014-05-28 16:10:30" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168203" "00167324" "1" "02416" "02416" "2014-05-28 16:16:56" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168204" "00167325" "1" "02416" "02416" "2014-05-28 16:19:36" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168205" "00167326" "1" "02416" "02416" "2014-05-28 16:22:08" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168206" "00167327" "1" "02416" "02416" "2014-05-28 17:05:10" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168207" "00167328" "1" "02416" "02416" "2014-05-30 11:02:03" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168208" "00167329" "1" "02416" "02416" "2014-05-30 11:32:13" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168209" "00167330" "1" "02416" "02416" "2014-05-30 14:44:21" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168210" "00167331" "1" "02416" "02416" "2014-05-30 15:50:00" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168211" "00167332" "1" "02416" "02416" "2014-05-30 15:55:59" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168212" "00167333" "1" "02416" "02416" "2014-05-30 15:58:55" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168213" "00167334" "1" "02416" "02416" "2014-05-30 16:01:40" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168214" "00167335" "1" "02416" "02416" "2014-05-30 17:34:27" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168215" "00167336" "1" "02416" "02416" "2014-06-02 10:35:12" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168216" "00167337" "1" "02416" "02416" "2014-06-02 10:57:18" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168217" "00167338" "1" "02416" "02416" "2014-06-02 11:00:41" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168218" "00167339" "1" "02416" "02416" "2014-06-02 11:11:52" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168219" "00167340" "1" "02416" "02416" "2014-06-02 11:32:40" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168220" "00167341" "1" "02416" "02416" "2014-06-02 11:38:01" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168221" "00167342" "1" "02416" "02416" "2014-06-02 15:53:34" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168222" "00167343" "1" "02416" "02416" "2014-06-02 16:16:54" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168223" "00167344" "1" "02416" "02416" "2014-06-02 16:20:35" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168224" "00167345" "1" "02416" "02416" "2014-06-02 16:29:39" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168225" "00167346" "1" "02416" "02416" "2014-06-02 16:37:47" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168226" "00167347" "1" "02416" "02416" "2014-06-02 16:54:17" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168227" "00167348" "1" "02416" "02416" "2014-06-02 17:21:19" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168228" "00167349" "1" "02416" "02416" "2014-06-02 17:25:45" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168229" "00167350" "1" "02416" "02416" "2014-06-02 17:29:41" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168230" "00167351" "1" "02416" "02416" "2014-06-02 17:33:48" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168231" "00167352" "1" "02416" "02416" "2014-06-03 09:34:54" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168232" "00167353" "1" "02416" "02416" "2014-06-03 09:38:09" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168233" "00167354" "1" "02416" "02416" "2014-06-03 10:17:31" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168234" "00167355" "1" "02416" "02416" "2014-06-03 10:35:15" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168235" "00167356" "1" "02416" "02416" "2014-06-03 11:08:37" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168236" "00167357" "1" "02416" "02416" "2014-06-03 11:13:31" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168237" "00167358" "1" "02416" "02416" "2014-06-03 15:02:03" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168238" "00167359" "1" "02416" "02416" "2014-06-03 15:26:56" "00110" "2014-10-17 15:46:56" "SEQ" "DNA" "" "" "0000168239" "00167360" "1" "02416" "02416" "2014-06-03 15:38:06" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168240" "00167361" "1" "02416" "02416" "2014-06-03 15:47:21" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168241" "00167362" "1" "02416" "02416" "2014-06-03 16:11:45" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168242" "00167363" "1" "02416" "02416" "2014-06-03 16:36:16" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168243" "00167364" "1" "02416" "02416" "2014-06-03 16:38:48" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168244" "00167365" "1" "02416" "02416" "2014-06-03 16:41:43" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168245" "00167366" "1" "02416" "02416" "2014-06-03 16:44:07" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168246" "00167367" "1" "02416" "02416" "2014-06-03 16:57:38" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168247" "00167368" "1" "02416" "02416" "2014-06-03 17:00:17" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168248" "00167369" "1" "02416" "02416" "2014-06-03 17:02:17" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168249" "00167370" "1" "02416" "02416" "2014-06-03 17:40:34" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168250" "00167371" "1" "02416" "02416" "2014-06-04 09:36:24" "00110" "2014-08-14 17:17:51" "SEQ" "DNA" "" "" "0000168251" "00167372" "1" "02416" "02416" "2014-06-04 09:43:31" "00110" "2014-08-14 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"00110" "2014-10-20 16:56:27" "SEQ" "DNA" "" "" "0000168504" "00167625" "1" "02416" "02416" "2014-10-01 17:40:13" "00110" "2014-10-20 16:56:27" "SEQ" "DNA" "" "" "0000168505" "00167626" "1" "02416" "02416" "2014-10-01 17:43:01" "00110" "2014-10-20 16:56:27" "SEQ" "DNA" "" "" "0000168641" "00167762" "1" "02427" "02427" "2015-08-28 15:31:10" "00110" "2016-01-05 14:40:49" "SEQ" "DNA" "" "" "0000168908" "00168029" "1" "02416" "02416" "2017-08-14 17:13:11" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168909" "00168030" "1" "02416" "02416" "2017-08-14 17:15:45" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168912" "00168033" "1" "02416" "02416" "2017-08-16 11:13:38" "00110" "2017-12-06 10:05:13" "SEQ;SEQ-NG-S" "DNA" "" "" "0000295419" "00294251" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295420" "00294252" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295421" "00294253" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295422" "00294254" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295423" "00294255" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295424" "00294256" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295425" "00294257" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295426" "00294258" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295428" "00294260" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311006" "00309862" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000336948" "00335720" "1" "04006" "04006" "2021-03-07 21:47:11" "" "" "SEQ" "DNA" "Blood" "" "0000375545" "00374351" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000381910" "00380697" "1" "04006" "04006" "2021-08-19 17:24:22" "" "" "SEQ" "DNA" "Blood" "" "0000381911" "00380698" "1" "04006" "04006" "2021-08-19 17:34:01" "" "" "SEQ" "DNA" "" "" "0000381912" "00380699" "1" "04006" "04006" "2021-08-19 17:37:49" "" "" "SEQ" "DNA" "" "" "0000381913" "00380700" "1" "04006" "04006" "2021-08-19 17:40:35" "" "" "SEQ" "DNA" "" "" "0000381920" "00380707" "1" "04006" "04006" "2021-08-19 19:27:14" "" "" "SEQ" "DNA" "" "" "0000398647" "00397407" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000398648" "00397408" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000398649" "00397409" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000398650" "00397410" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000398651" "00397411" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" "0000419893" "00418598" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439807" "00438325" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442592" "00441107" "1" "00006" "00006" "2023-11-06 09:06:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442615" "00441130" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442843" "00441357" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442844" "00441358" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442845" "00441359" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442846" "00441360" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442847" "00441361" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442848" "00441362" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442849" "00441363" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442850" "00441364" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442851" "00441365" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442852" "00441366" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442853" "00441367" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442854" "00441368" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442855" "00441369" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442856" "00441370" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442857" "00441371" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442858" "00441372" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442859" "00441373" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442860" "00441374" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442861" "00441375" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442862" "00441376" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442863" "00441377" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442864" "00441378" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442865" "00441379" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442866" "00441380" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442867" "00441381" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442868" "00441382" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442869" "00441383" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442870" "00441384" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442871" "00441385" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442872" "00441386" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442873" "00441387" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442874" "00441388" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442875" "00441389" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442876" "00441390" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442877" "00441391" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442878" "00441392" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442879" "00441393" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442880" "00441394" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442881" "00441395" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442882" "00441396" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442883" "00441397" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442884" "00441398" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442885" "00441399" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442886" "00441400" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442887" "00441401" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442888" "00441402" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442889" "00441403" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442890" "00441404" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442891" "00441405" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442892" "00441406" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442893" "00441407" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442894" "00441408" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442895" "00441409" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442896" "00441410" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443088" "00441602" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443089" "00441603" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443090" "00441604" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443091" "00441605" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443092" "00441606" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443093" "00441607" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443094" "00441608" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443095" "00441609" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443096" "00441610" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443097" "00441611" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443098" "00441612" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443099" "00441613" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443100" "00441614" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467141" "00465492" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467142" "00465493" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467143" "00465494" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467144" "00465495" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467145" "00465496" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467146" "00465497" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467147" "00465498" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467148" "00465499" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467149" "00465500" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467150" "00465501" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467151" "00465502" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467152" "00465503" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467153" "00465504" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467154" "00465505" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467155" "00465506" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467156" "00465507" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467157" "00465508" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467158" "00465509" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467159" "00465510" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467160" "00465511" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467161" "00465512" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467162" "00465513" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467163" "00465514" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467164" "00465515" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467165" "00465516" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467166" "00465517" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467167" "00465518" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467168" "00465519" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467169" "00465520" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467170" "00465521" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467171" "00465522" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467172" "00465523" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467173" "00465524" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467174" "00465525" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467175" "00465526" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467176" "00465527" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467177" "00465528" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467178" "00465529" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467179" "00465530" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467180" "00465531" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467181" "00465532" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467182" "00465533" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467183" "00465534" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467184" "00465535" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467185" "00465536" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467186" "00465537" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467187" "00465538" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" "0000467241" "00465591" "1" "00006" "00006" "2025-05-22 11:12:40" "" "" "SEQ-NG" "DNA" "" "SLC26A4, FOXI1, KCNJ10" "0000467242" "00465594" "1" "00006" "00006" "2025-05-22 11:12:40" "" "" "SEQ-NG" "DNA" "" "SLC26A4, FOXI1, KCNJ10" "0000467244" "00465596" "1" "00006" "00006" "2025-05-22 11:12:40" "" "" "SEQ-NG" "DNA" "" "SLC26A4, FOXI1, KCNJ10" "0000467643" "00465992" "1" "04656" "04656" "2025-07-01 20:49:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000467644" "00465993" "1" "04656" "04656" "2025-07-01 20:51:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000467645" "00465994" "1" "04656" "04656" "2025-07-01 20:54:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000467646" "00465995" "1" "04656" "04656" "2025-07-01 20:57:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000467647" "00465996" "1" "04656" "04656" "2025-07-01 21:01:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000469191" "00467528" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469192" "00467529" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469193" "00467530" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469194" "00467531" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469195" "00467532" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469196" "00467533" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469197" "00467534" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469198" "00467535" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469199" "00467536" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469200" "00467537" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469201" "00467538" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{geneid}}" "0000059149" "SLC26A4" "0000080829" "FOXI1" "0000080829" "SLC26A4" "0000080856" "SLC26A4" "0000080857" "SLC26A4" "0000080858" "SLC26A4" "0000080859" "SLC26A4" "0000080860" "SLC26A4" "0000080861" "SLC26A4" "0000080862" "SLC26A4" "0000080863" "SLC26A4" "0000080864" "SLC26A4" "0000087376" "FOXI1" "0000087376" "KCNJ10" "0000087376" "SLC26A4" "0000311006" "SLC26A4" "0000336948" "SLC26A4" "0000375545" "KCNJ10" "0000381910" "SLC26A4" "0000381911" "SLC26A4" "0000381912" "SLC26A4" "0000381913" "SLC26A4" "0000381920" "SLC26A4" "0000398647" "SLC26A4" "0000398648" "SLC26A4" "0000398649" "SLC26A4" "0000398650" "SLC26A4" "0000398651" "SLC26A4" "0000467241" "SLC26A4" "0000467242" "SLC26A4" "0000467244" "SLC26A4" "0000467643" "SLC26A4" "0000467644" "SLC26A4" "0000467645" "SLC26A4" "0000467646" "SLC26A4" "0000467647" "SLC26A4" ## 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 = 956 "{{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}}" "0000089806" "3" "90" "7" "107330617" "107330617" "del" "0" "01542" "SLC26A4_000069" "g.107330617del" "" "{PMID:Lofrano-Porto:19169484}" "" "1197delT (S399fsX68)" "" "Germline" "yes" "" "0" "" "" "g.107690172del" "" "pathogenic" "" "0000089807" "3" "90" "7" "107330617" "107330617" "del" "0" "01542" "SLC26A4_000069" "g.107330617del" "" "" "" "1197delT (S399fsX68)" "" "Germline" "yes" "" "0" "" "" "g.107690172del" "" "pathogenic" "" "0000089961" "0" "90" "7" "107334918" "107334918" "subst" "8.55362E-5" "01551" "SLC26A4_000068" "g.107334918T>G" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000089962" "0" "90" "7" "107350562" "107350562" "subst" "2.84446E-5" "01551" "SLC26A4_000191" "g.107350562T>C" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.107710117T>C" "" "pathogenic" "" "0000091248" "11" "90" "7" "107312627" "107312627" "subst" "0.000324942" "01542" "SLC26A4_000192" "g.107312627C>T" "5/316 cases (hom), 1/316 cases (het)" "" "" "" "found in 1/50 controls (Ashkenazi); not found among ~4000 non-Ashkenazi Jews" "Germline" "yes" "" "0" "" "" "g.107672182C>T" "" "pathogenic" "" "0000091250" "21" "90" "7" "107314771" "107314771" "subst" "2.03072E-5" "01542" "SLC26A4_000075" "g.107314771C>T" "1/206 cases (het)" "" "" "" "not in 0/404 hearing controls" "Germline" "yes" "" "0" "" "" "g.107674326C>T" "" "pathogenic" "" "0000091251" "3" "90" "7" "107312627" "107312627" "subst" "0.000324942" "01542" "SLC26A4_000192" "g.107312627C>T" "5/316 cases (hom), 1/316 cases (het)" "" "" "" "found in 1/50 controls (Ashkenazi); not in ~4000 non-Ashkenazi Jews" "Germline" "yes" "" "0" "" "" "g.107672182C>T" "" "pathogenic" "" "0000091252" "3" "90" "7" "107312627" "107312627" "subst" "0.000324942" "01542" "SLC26A4_000192" "g.107312627C>T" "5/316 cases (hom), 1/316 cases (het)" "" "" "" "found in 1/50 controls (Ashkenazi); not in ~4000 non-Ashkenazi Jews" "Germline" "yes" "" "0" "" "" "g.107672182C>T" "" "pathogenic" "" "0000129180" "0" "70" "7" "107314698" "107314698" "del" "0" "01740" "SLC26A4_000198" "g.107314698del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.107674253del" "" "likely pathogenic" "" "0000129181" "0" "70" "7" "107334918" "107334918" "subst" "8.55362E-5" "01740" "SLC26A4_000068" "g.107334918T>G" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.107694473T>G" "" "likely pathogenic" "" "0000129194" "0" "50" "7" "107330665" "107330665" "subst" "0.000207697" "01740" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.107690220A>C" "" "VUS" "" "0000129881" "21" "99" "7" "107302171" "107302171" "subst" "9.62872E-5" "00006" "SLC26A4_000083" "g.107302171G>C" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "G29Q" "variant not in 500 control chromosomes; suggested digenic inheritance" "Germline" "yes" "rs111033205" "0" "" "" "g.107661726G>C" "" "pathogenic" "" "0000129894" "0" "99" "7" "107301201" "107301201" "subst" "0" "00006" "SLC26A4_000197" "g.107301201T>C" "" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "in vitro promoter-reporter assay shows significantly decreased transcription of variant SLC26A4 construct" "In vitro (cloned)" "-" "rs60284988" "0" "" "" "g.107660756T>C" "" "NA" "" "0000129914" "0" "99" "7" "107301201" "107301201" "subst" "0" "00006" "SLC26A4_000197" "g.107301201T>C" "1/429 cases" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "not in 200 control chromosomes" "Germline" "" "rs60284988" "0" "" "" "g.107660756T>C" "" "pathogenic" "" "0000129915" "0" "99" "7" "107301201" "107301201" "subst" "0" "00006" "SLC26A4_000197" "g.107301201T>C" "1/429 cases" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "not in 200 control chromosomes" "Germline" "" "rs60284988" "0" "" "" "g.107660756T>C" "" "pathogenic" "" "0000129916" "0" "99" "7" "107301201" "107301201" "subst" "0" "00006" "SLC26A4_000197" "g.107301201T>C" "1/429 cases" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "not in 200 control chromosomes" "Germline" "" "rs60284988" "0" "" "" "g.107660756T>C" "" "pathogenic" "" "0000129917" "0" "99" "7" "107301201" "107301201" "subst" "0" "00006" "SLC26A4_000197" "g.107301201T>C" "1/429 cases" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "not in 200 control chromosomes" "Germline" "" "rs60284988" "0" "" "" "g.107660756T>C" "" "pathogenic" "" "0000129918" "0" "99" "7" "107301201" "107301201" "subst" "0" "00006" "SLC26A4_000197" "g.107301201T>C" "1/429 cases" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "not in 200 control chromosomes" "Germline" "" "rs60284988" "0" "" "" "g.107660756T>C" "" "pathogenic" "" "0000129919" "0" "99" "7" "107301201" "107301201" "subst" "0" "00006" "SLC26A4_000197" "g.107301201T>C" "1/429 cases" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "not in 200 control chromosomes" "Germline" "" "rs60284988" "0" "" "" "g.107660756T>C" "" "pathogenic" "" "0000129920" "0" "99" "7" "107301201" "107301201" "subst" "0" "00006" "SLC26A4_000197" "g.107301201T>C" "1/429 cases" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "not in 200 control chromosomes" "Germline" "" "rs60284988" "0" "" "" "g.107660756T>C" "" "pathogenic" "" "0000129921" "0" "99" "7" "107301201" "107301201" "subst" "0" "00006" "SLC26A4_000197" "g.107301201T>C" "1/429 cases" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "not in 200 control chromosomes" "Germline" "" "rs60284988" "0" "" "" "g.107660756T>C" "" "pathogenic" "" "0000129922" "0" "99" "7" "107301201" "107301201" "subst" "0" "00006" "SLC26A4_000197" "g.107301201T>C" "1/429 cases" "{PMID:Yang 2007:17503324}, {DOI:Yang 2007:10.1086/518314}" "" "" "not in 200 control chromosomes" "Germline" "" "rs60284988" "0" "" "" "g.107660756T>C" "" "pathogenic" "" "0000140549" "11" "70" "7" "107323906" "107323912" "del" "0" "01817" "SLC26A4_000199" "g.107323906_107323912del" "" "author, submitted" "" "c.923_929del" "" "Germline" "" "" "0" "" "" "g.107683461_107683467del" "" "likely pathogenic" "" "0000140553" "21" "99" "7" "107323898" "107323898" "subst" "0.000321337" "01817" "SLC26A4_000022" "g.107323898A>G" "" "" "" "" "" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000246604" "0" "10" "7" "107336364" "107336364" "subst" "0.002147" "02330" "SLC26A4_000141" "g.107336364A>G" "" "" "" "SLC26A4(NM_000441.2):c.1438-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107695919A>G" "" "benign" "" "0000254554" "0" "30" "7" "107335087" "107335087" "subst" "0.00403495" "01943" "SLC26A4_000140" "g.107335087A>T" "" "" "" "SLC26A4(NM_000441.1):c.1363A>T (p.I455F), SLC26A4(NM_000441.2):c.1363A>T (p.I455F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107694642A>T" "" "likely benign" "" "0000254798" "0" "30" "7" "107323945" "107323945" "subst" "0.000289015" "01943" "SLC26A4_000205" "g.107323945A>G" "" "" "" "SLC26A4(NM_000441.1):c.964A>G (p.N322D), SLC26A4(NM_000441.2):c.964A>G (p.N322D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107683500A>G" "" "likely benign" "" "0000295895" "0" "30" "7" "107329557" "107329557" "subst" "0.000601709" "02330" "SLC26A4_000207" "g.107329557T>C" "" "" "" "SLC26A4(NM_000441.1):c.1061T>C (p.F354S, p.(Phe354Ser)), SLC26A4(NM_000441.2):c.1061T>C (p.F354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107689112T>C" "" "likely benign" "" "0000295896" "0" "90" "7" "107334918" "107334918" "subst" "8.55362E-5" "02330" "SLC26A4_000068" "g.107334918T>G" "" "" "" "SLC26A4(NM_000441.2):c.1334T>G (p.L445W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000295897" "0" "10" "7" "107338482" "107338482" "subst" "0.0022198" "02330" "SLC26A4_000145" "g.107338482T>G" "" "" "" "SLC26A4(NM_000441.2):c.1545-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107698037T>G" "" "benign" "" "0000295898" "0" "10" "7" "107338480" "107338480" "del" "0.000101652" "02330" "SLC26A4_000144" "g.107338480del" "" "" "" "SLC26A4(NM_000441.2):c.1545-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107698035del" "" "benign" "" "0000295899" "0" "30" "7" "107340531" "107340531" "subst" "1.62819E-5" "02330" "SLC26A4_000146" "g.107340531G>A" "" "" "" "SLC26A4(NM_000441.2):c.1618G>A (p.E540K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107700086G>A" "" "likely benign" "" "0000295900" "0" "10" "7" "107341528" "107341528" "subst" "0.0258512" "02330" "SLC26A4_000147" "g.107341528T>A" "" "" "" "SLC26A4(NM_000441.1):c.1708-18T>A, SLC26A4(NM_000441.2):c.1708-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107701083T>A" "" "benign" "" "0000295901" "0" "10" "7" "107341628" "107341628" "subst" "0.00843142" "02330" "SLC26A4_000148" "g.107341628T>C" "" "" "" "SLC26A4(NM_000441.1):c.1790T>C (p.L597S), SLC26A4(NM_000441.2):c.1790T>C (p.L597S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107701183T>C" "" "benign" "" "0000295902" "0" "10" "7" "107342294" "107342294" "subst" "0.0103557" "02330" "SLC26A4_000149" "g.107342294T>G" "" "" "" "SLC26A4(NM_000441.1):c.1826T>G (p.V609G), SLC26A4(NM_000441.2):c.1826T>G (p.V609G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107701849T>G" "" "benign" "" "0000295903" "0" "10" "7" "107350539" "107350539" "subst" "0.00471851" "02330" "SLC26A4_000150" "g.107350539C>T" "" "" "" "SLC26A4(NM_000441.1):c.2130C>T (p.D710=), SLC26A4(NM_000441.2):c.2130C>T (p.D710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107710094C>T" "" "benign" "" "0000295904" "0" "30" "7" "107350627" "107350627" "subst" "0.00350364" "02330" "SLC26A4_000152" "g.107350627G>A" "" "" "" "SLC26A4(NM_000441.1):c.2218G>A (p.G740S), SLC26A4(NM_000441.2):c.2218G>A (p.G740S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107710182G>A" "" "likely benign" "" "0000298275" "0" "50" "7" "107350644" "107350644" "subst" "1.21986E-5" "02325" "SLC26A4_000153" "g.107350644G>A" "" "" "" "SLC26A4(NM_000441.2):c.2235G>A (p.T745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107710199G>A" "" "VUS" "" "0000308342" "0" "50" "7" "107301201" "107301201" "subst" "0" "01943" "SLC26A4_000197" "g.107301201T>C" "" "" "" "SLC26A4(NM_000441.1):c.-103T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107660756T>C" "" "VUS" "" "0000308343" "0" "10" "7" "107301238" "107301238" "subst" "0" "01943" "SLC26A4_000201" "g.107301238C>G" "" "" "" "SLC26A4(NM_000441.1):c.-66C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107660793C>G" "" "benign" "" "0000308344" "0" "90" "7" "107323983" "107323983" "subst" "0.000183618" "01943" "SLC26A4_000206" "g.107323983G>A" "" "" "" "SLC26A4(NM_000441.1):c.1001+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000308345" "0" "30" "7" "107330667" "107330667" "subst" "0" "01943" "SLC26A4_000208" "g.107330667T>A" "" "" "" "SLC26A4(NM_000441.1):c.1248T>A (p.T416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107690222T>A" "" "likely benign" "" "0000308346" "0" "30" "7" "107335080" "107335080" "subst" "0" "01943" "SLC26A4_000209" "g.107335080T>C" "" "" "" "SLC26A4(NM_000441.1):c.1356T>C (p.A452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107694635T>C" "" "likely benign" "" "0000308347" "0" "90" "7" "107302228" "107302228" "subst" "0" "01943" "SLC26A4_000203" "g.107302228G>T" "" "" "" "SLC26A4(NM_000441.1):c.142G>T (p.E48*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107661783G>T" "" "pathogenic" "" "0000308348" "0" "10" "7" "107336428" "107336428" "subst" "0.00162885" "01943" "SLC26A4_000142" "g.107336428C>T" "" "" "" "SLC26A4(NM_000441.1):c.1488C>T (p.L496=), SLC26A4(NM_000441.2):c.1488C>T (p.L496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107695983C>T" "" "benign" "" "0000308349" "0" "50" "7" "107336454" "107336454" "subst" "0" "01943" "SLC26A4_000143" "g.107336454G>T" "" "" "" "SLC26A4(NM_000441.1):c.1514G>T (p.G505V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107696009G>T" "" "VUS" "" "0000308350" "0" "30" "7" "107341528" "107341528" "subst" "0.0258512" "01943" "SLC26A4_000147" "g.107341528T>A" "" "" "" "SLC26A4(NM_000441.1):c.1708-18T>A, SLC26A4(NM_000441.2):c.1708-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107701083T>A" "" "likely benign" "" "0000308351" "0" "10" "7" "107341628" "107341628" "subst" "0.00843142" "01943" "SLC26A4_000148" "g.107341628T>C" "" "" "" "SLC26A4(NM_000441.1):c.1790T>C (p.L597S), SLC26A4(NM_000441.2):c.1790T>C (p.L597S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107701183T>C" "" "benign" "" "0000308352" "0" "10" "7" "107342294" "107342294" "subst" "0.0103557" "01943" "SLC26A4_000149" "g.107342294T>G" "" "" "" "SLC26A4(NM_000441.1):c.1826T>G (p.V609G), SLC26A4(NM_000441.2):c.1826T>G (p.V609G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107701849T>G" "" "benign" "" "0000308353" "0" "10" "7" "107350539" "107350539" "subst" "0.00471851" "01943" "SLC26A4_000150" "g.107350539C>T" "" "" "" "SLC26A4(NM_000441.1):c.2130C>T (p.D710=), SLC26A4(NM_000441.2):c.2130C>T (p.D710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107710094C>T" "" "benign" "" "0000308354" "0" "70" "7" "107350620" "107350620" "subst" "0.000199156" "01943" "SLC26A4_000151" "g.107350620G>C" "" "" "" "SLC26A4(NM_000441.1):c.2211G>C (p.E737D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107710175G>C" "" "likely pathogenic" "" "0000308355" "0" "10" "7" "107350627" "107350627" "subst" "0.00350364" "01943" "SLC26A4_000152" "g.107350627G>A" "" "" "" "SLC26A4(NM_000441.1):c.2218G>A (p.G740S), SLC26A4(NM_000441.2):c.2218G>A (p.G740S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107710182G>A" "" "benign" "" "0000308356" "0" "90" "7" "107302088" "107302088" "subst" "7.18296E-5" "01943" "SLC26A4_000202" "g.107302088T>C" "" "" "" "SLC26A4(NM_000441.1):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107661643T>C" "" "pathogenic" "" "0000308357" "0" "10" "7" "107314596" "107314596" "subst" "0.0010398" "01943" "SLC26A4_000204" "g.107314596T>C" "" "" "" "SLC26A4(NM_000441.1):c.416-13T>C, SLC26A4(NM_000441.2):c.416-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107674151T>C" "" "benign" "" "0000336958" "0" "50" "7" "107301195" "107301195" "subst" "0" "02327" "SLC26A4_000154" "g.107301195G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107660750G>A" "" "VUS" "" "0000336959" "0" "30" "7" "107315373" "107315373" "subst" "0.00247267" "02327" "SLC26A4_000158" "g.107315373C>T" "" "" "" "SLC26A4(NM_000441.2):c.601-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107674928C>T" "" "likely benign" "" "0000336960" "0" "90" "7" "107334926" "107334926" "subst" "1.62971E-5" "02327" "SLC26A4_000178" "g.107334926G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107694481G>C" "" "pathogenic" "" "0000336961" "0" "90" "7" "107335064" "107335064" "subst" "0" "02327" "SLC26A4_000179" "g.107335064A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107694619A>C" "" "pathogenic" "" "0000336962" "0" "10" "7" "107338482" "107338482" "subst" "0.0022198" "02327" "SLC26A4_000145" "g.107338482T>G" "" "" "" "SLC26A4(NM_000441.2):c.1545-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107698037T>G" "" "benign" "" "0000336963" "0" "10" "7" "107341528" "107341528" "subst" "0.0258512" "02327" "SLC26A4_000147" "g.107341528T>A" "" "" "" "SLC26A4(NM_000441.1):c.1708-18T>A, SLC26A4(NM_000441.2):c.1708-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107701083T>A" "" "benign" "" "0000342131" "0" "90" "7" "107314747" "107314747" "subst" "9.34124E-5" "02327" "SLC26A4_000157" "g.107314747G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107674302G>C" "" "pathogenic" "" "0000342844" "0" "70" "7" "107330644" "107330644" "subst" "1.62851E-5" "02327" "SLC26A4_000174" "g.107330644C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107690199C>T" "" "likely pathogenic" "" "0000343744" "0" "70" "7" "107330593" "107330593" "subst" "4.06779E-6" "02327" "SLC26A4_000171" "g.107330593A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107690148A>T" "" "likely pathogenic" "" "0000344383" "0" "90" "7" "107330617" "107330617" "del" "0" "02327" "SLC26A4_000173" "g.107330617del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107690172del" "" "pathogenic" "" "0000344427" "0" "70" "7" "107340607" "107340607" "subst" "0" "02327" "SLC26A4_000184" "g.107340607G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107700162G>A" "" "likely pathogenic" "" "0000344806" "0" "90" "7" "107329643" "107329643" "del" "0" "02327" "SLC26A4_000168" "g.107329643del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107689198del" "" "pathogenic" "" "0000344885" "0" "90" "7" "107336480" "107336480" "subst" "0" "02327" "SLC26A4_000182" "g.107336480C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107696035C>T" "" "pathogenic" "" "0000345341" "0" "90" "7" "107302171" "107302171" "subst" "9.62872E-5" "02327" "SLC26A4_000083" "g.107302171G>C" "" "" "" "SLC26A4(NM_000441.1):c.85G>C (p.E29Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107661726G>C" "" "pathogenic" "" "0000345390" "0" "90" "7" "107330570" "107330570" "subst" "0.000109824" "02327" "SLC26A4_000169" "g.107330570A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107690125A>G" "" "pathogenic" "" "0000345714" "0" "90" "7" "107314609" "107314609" "subst" "0" "02327" "SLC26A4_000156" "g.107314609G>C" "" "" "" "SLC26A4(NM_000441.1):c.416G>C (p.G139A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107674164G>C" "" "pathogenic" "" "0000345857" "0" "90" "7" "107315415" "107315415" "subst" "0.000308644" "02327" "SLC26A4_000159" "g.107315415G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107674970G>T" "" "pathogenic" "" "0000346002" "0" "70" "7" "107323982" "107323982" "subst" "8.16073E-6" "02327" "SLC26A4_000166" "g.107323982G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107683537G>T" "" "likely pathogenic" "" "0000346118" "0" "90" "7" "107336429" "107336429" "subst" "2.03102E-5" "02327" "SLC26A4_000181" "g.107336429G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107695984G>A" "" "pathogenic" "" "0000346180" "0" "50" "7" "107341622" "107341622" "subst" "0" "02327" "SLC26A4_000185" "g.107341622G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107701177G>A" "" "VUS" "" "0000346216" "0" "70" "7" "107342483" "107342483" "subst" "6.50533E-5" "02327" "SLC26A4_000188" "g.107342483G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107702038G>A" "" "likely pathogenic" "" "0000346671" "0" "30" "7" "107323779" "107323779" "subst" "0.000983476" "02327" "SLC26A4_000165" "g.107323779A>C" "" "" "" "SLC26A4(NM_000441.1):c.898A>C (p.I300L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107683334A>C" "" "likely benign" "" "0000347016" "0" "90" "7" "107315496" "107315496" "subst" "0.000284264" "02327" "SLC26A4_000160" "g.107315496T>C" "" "" "" "SLC26A4(NM_000441.1):c.707T>C (p.L236P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107675051T>C" "" "pathogenic" "" "0000347175" "0" "90" "7" "107334918" "107334918" "subst" "8.55362E-5" "02327" "SLC26A4_000068" "g.107334918T>G" "" "" "" "SLC26A4(NM_000441.2):c.1334T>G (p.L445W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000347247" "0" "50" "7" "107341628" "107341628" "subst" "0.00843142" "02327" "SLC26A4_000148" "g.107341628T>C" "" "" "" "SLC26A4(NM_000441.1):c.1790T>C (p.L597S), SLC26A4(NM_000441.2):c.1790T>C (p.L597S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107701183T>C" "" "VUS" "" "0000347273" "0" "50" "7" "107342471" "107342471" "subst" "4.87837E-5" "02327" "SLC26A4_000187" "g.107342471T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107702026T>C" "" "VUS" "" "0000347681" "0" "90" "7" "107302088" "107302088" "subst" "7.18296E-5" "02327" "SLC26A4_000202" "g.107302088T>C" "" "" "" "SLC26A4(NM_000441.1):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107661643T>C" "" "pathogenic" "" "0000348032" "0" "30" "7" "107329557" "107329557" "subst" "0.000601709" "02327" "SLC26A4_000207" "g.107329557T>C" "" "" "" "SLC26A4(NM_000441.1):c.1061T>C (p.F354S, p.(Phe354Ser)), SLC26A4(NM_000441.2):c.1061T>C (p.F354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107689112T>C" "" "likely benign" "" "0000348086" "0" "70" "7" "107344789" "107344789" "subst" "9.081E-6" "02327" "SLC26A4_000189" "g.107344789T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107704344T>C" "" "likely pathogenic" "" "0000348975" "0" "70" "7" "107330591" "107330591" "subst" "0" "02327" "SLC26A4_000170" "g.107330591G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107690146G>A" "" "likely pathogenic" "" "0000348978" "0" "90" "7" "107330603" "107330603" "subst" "0" "02327" "SLC26A4_000172" "g.107330603C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107690158C>A" "" "pathogenic" "" "0000349020" "0" "70" "7" "107335067" "107335067" "subst" "2.03399E-5" "02327" "SLC26A4_000180" "g.107335067C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107694622C>T" "" "likely pathogenic" "" "0000349500" "0" "90" "7" "107330648" "107330648" "subst" "0.000199521" "02327" "SLC26A4_000175" "g.107330648C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000349504" "0" "90" "7" "107330665" "107330665" "subst" "0.000207697" "02327" "SLC26A4_000080" "g.107330665A>C" "" "" "" "SLC26A4(NM_000441.2):c.1246A>C (p.T416P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000350127" "0" "70" "7" "107338531" "107338531" "subst" "8.13127E-6" "02327" "SLC26A4_000183" "g.107338531A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107698086A>C" "" "likely pathogenic" "" "0000350287" "0" "90" "7" "107312690" "107312690" "subst" "0.000166652" "02327" "SLC26A4_000155" "g.107312690G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107672245G>T" "" "pathogenic" "" "0000350414" "0" "70" "7" "107315505" "107315505" "subst" "0.000207113" "02327" "SLC26A4_000161" "g.107315505T>A" "" "" "" "SLC26A4(NM_000441.1):c.716T>A (p.V239D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107675060T>A" "" "likely pathogenic" "" "0000350526" "0" "50" "7" "107330653" "107330653" "subst" "5.29402E-5" "02327" "SLC26A4_000176" "g.107330653G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107690208G>A" "" "VUS" "" "0000350605" "0" "10" "7" "107342294" "107342294" "subst" "0.0103557" "02327" "SLC26A4_000149" "g.107342294T>G" "" "" "" "SLC26A4(NM_000441.1):c.1826T>G (p.V609G), SLC26A4(NM_000441.2):c.1826T>G (p.V609G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107701849T>G" "" "benign" "" "0000350722" "0" "90" "7" "107323898" "107323898" "subst" "0.000321337" "02327" "SLC26A4_000022" "g.107323898A>G" "" "" "" "SLC26A4(NM_000441.1):c.919-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000350828" "0" "90" "7" "107323983" "107323983" "subst" "0.000183618" "02327" "SLC26A4_000206" "g.107323983G>A" "" "" "" "SLC26A4(NM_000441.1):c.1001+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000350829" "0" "10" "7" "107329489" "107329489" "subst" "0.00233432" "02327" "SLC26A4_000167" "g.107329489A>C" "" "" "" "SLC26A4(NM_000441.2):c.1002-9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107689044A>C" "" "benign" "" "0000368247" "3" "70" "7" "107336429" "107336429" "subst" "2.03102E-5" "02393" "SLC26A4_000181" "g.107336429G>A" "0/194 chromosomes" "" "" "" "" "Germline" "yes" "rs111033308" "0" "" "" "g.107695984G>A" "{CV-RCV:000169242.1}" "likely pathogenic" "" "0000375104" "10" "99" "7" "107314644" "107314644" "del" "0" "02416" "SLC26A4_000010" "g.107314644del" "0/100 controls" "{PMID:Ben Said 2012:22429511}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107674199del" "" "pathogenic" "" "0000375105" "10" "99" "7" "107314644" "107314644" "del" "0" "02416" "SLC26A4_000010" "g.107314644del" "0/100 controls" "{PMID:Ben Said 2012:22429511}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107674199del" "" "pathogenic" "" "0000375106" "10" "99" "7" "107314644" "107314644" "del" "0" "02416" "SLC26A4_000010" "g.107314644del" "0/100 controls" "{PMID:Ben Said 2012:22429511}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107674199del" "" "pathogenic" "" "0000375107" "10" "99" "7" "107314644" "107314644" "del" "0" "02416" "SLC26A4_000010" "g.107314644del" "0/100 controls" "{PMID:Ben Said 2012:22429511}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107674199del" "" "pathogenic" "" "0000375108" "10" "99" "7" "107314644" "107314644" "del" "0" "02416" "SLC26A4_000010" "g.107314644del" "0/100 controls" "{PMID:Ben Said 2012:22429511}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107674199del" "" "pathogenic" "" "0000375109" "20" "99" "7" "107314644" "107314644" "del" "0" "02416" "SLC26A4_000010" "g.107314644del" "0/100 controls" "{PMID:Ben Said 2012:22429511}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107674199del" "" "pathogenic" "" "0000375110" "20" "99" "7" "107314644" "107314644" "del" "0" "02416" "SLC26A4_000010" "g.107314644del" "0/100 controls" "{PMID:Ben Said 2012:22429511}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107674199del" "" "pathogenic" "" "0000375111" "20" "99" "7" "107314644" "107314644" "del" "0" "02416" "SLC26A4_000010" "g.107314644del" "0/100 controls" "{PMID:Ben Said 2012:22429511}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107674199del" "" "pathogenic" "" "0000375112" "20" "99" "7" "107314644" "107314644" "del" "0" "02416" "SLC26A4_000010" "g.107314644del" "0/100 controls" "{PMID:Ben Said 2012:22429511}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107674199del" "" "pathogenic" "" "0000375113" "20" "99" "7" "107314644" "107314644" "del" "0" "02416" "SLC26A4_000010" "g.107314644del" "0/100 controls" "{PMID:Ben Said 2012:22429511}" "" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107674199del" "" "pathogenic" "" "0000375114" "11" "99" "7" "107323744" "107323744" "dup" "0" "02416" "SLC26A4_000011" "g.107323744dup" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "863-864insT p.Leu288PhefsX3" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683299dup" "" "pathogenic" "" "0000375115" "21" "99" "7" "107323744" "107323744" "dup" "0" "02416" "SLC26A4_000011" "g.107323744dup" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "863-864insT p.Leu288PhefsX3" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683299dup" "" "pathogenic" "" "0000375116" "11" "99" "7" "107323744" "107323744" "dup" "0" "02416" "SLC26A4_000012" "g.107323744dup" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "863-864insT, p.Leu288PhefsX3" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683299dup" "" "pathogenic" "" "0000375117" "21" "99" "7" "107323744" "107323744" "dup" "0" "02416" "SLC26A4_000012" "g.107323744dup" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "863-864insT, p.Leu288PhefsX3" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683299dup" "" "pathogenic" "" "0000375118" "11" "99" "7" "107323744" "107323744" "dup" "0" "02416" "SLC26A4_000013" "g.107323744dup" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "863-864insT p.Leu288PhefsX3" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683299dup" "" "pathogenic" "" "0000375119" "21" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000014" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375120" "11" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000015" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375121" "11" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000015" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375122" "21" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000015" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375123" "21" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000015" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375124" "11" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000016" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathologic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375125" "21" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000016" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathologic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375126" "11" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000017" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375127" "21" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000017" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375128" "11" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000018" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375129" "21" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000018" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375130" "11" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000019" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375131" "21" "99" "7" "107323763" "107323764" "del" "0" "02416" "SLC26A4_000019" "g.107323763_107323764del" "0/200 controls" "{PMID:Yazdanpanahil 2013:24353858}" "" "881-882delAC, p.His294GlnfsX35" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683318_107683319del" "" "pathogenic" "" "0000375132" "21" "99" "7" "107329575" "107329575" "subst" "0" "02416" "SLC26A4_000020" "g.107329575C>T" "0/200 controls" "{PMID:Lai CC 2007:17697873}; USMA-{MSV3dO43511p.Ala360Val:}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107689130C>T" "" "pathogenic" "" "0000375133" "0" "99" "7" "107329575" "107329575" "subst" "0" "02416" "SLC26A4_000020" "g.107329575C>T" "0/200 controls" "{PMID:Lai CC 2007:17697873}; USMA-{MSV3dO43511p.Ala360Val:}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107689130C>T" "" "pathogenic" "" "0000375134" "0" "99" "7" "107329575" "107329575" "subst" "0" "02416" "SLC26A4_000020" "g.107329575C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ala360Val:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107689130C>T" "" "pathogenic" "" "0000375135" "21" "99" "7" "107329575" "107329575" "subst" "0" "02416" "SLC26A4_000020" "g.107329575C>T" "0/200 controls" "{PMID:Huang CJ 2013:23838540}; USMA-{MSV3dO43511p.Ala360Val:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107689130C>T" "" "pathogenic" "" "0000375136" "11" "99" "7" "107330683" "107330683" "subst" "0" "02416" "SLC26A4_000021" "g.107330683G>A" "0/200 controls" "{PMID:Huang CJ 2013:23838540}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107690238G>A" "" "pathogenic" "" "0000375137" "21" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "Pathogenic, Exon 8 acceptor splice site" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375138" "21" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "Pathogenic, Exon 8 acceptor splice site" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375139" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375140" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375141" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "homozygous; Pahogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375142" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375143" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375144" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375145" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375146" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375147" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375148" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375149" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375150" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375151" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "" "{PMID:S.Iwasaki 2006:16924389}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375152" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "" "{PMID:S.Iwasaki 2006:16924389}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375153" "11" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}" "" "IVS7-2A>G" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375154" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}" "" "Pathogenic,described as IVS7-2A>G" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375155" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}" "" "Pathogenic,described as IVS7-2A>G" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375156" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}" "" "IVS7-2A>G" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375157" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}" "" "IVS7-2A>G" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375158" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}" "" "IVS7-2A>G" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375159" "21" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}" "" "Pathogenic,describes as IVS7-2A>G" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375160" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}" "" "Pathogenic,described as IVS7-2A>G" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375161" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}" "" "Pathogenic,described as IVS7-2A>G" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375162" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}" "" "IVS7-2A>G" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375163" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}" "" "IVS7-2A>G" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375164" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375165" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375166" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375167" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375168" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375169" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375170" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375171" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375172" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375173" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375174" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375175" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375176" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375177" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375178" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375179" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375180" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375181" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375182" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375183" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375184" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375185" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375186" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375187" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375188" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375189" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375190" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375191" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375192" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375193" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375194" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375195" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375196" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375197" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375198" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375199" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375200" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375201" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375202" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375203" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375204" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375205" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375206" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375207" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375208" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375209" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375210" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375211" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375212" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375213" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375214" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375215" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375216" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375217" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375218" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375219" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375220" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375221" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375222" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375223" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375224" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375225" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375226" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375227" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375228" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375229" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375230" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375231" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375232" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375233" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375234" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375235" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375236" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375237" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375238" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375239" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375240" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375241" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375242" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375243" "0" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375244" "1" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375245" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375246" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375247" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375248" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375249" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375250" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375251" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375252" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375253" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375254" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375255" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375256" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375257" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375258" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375259" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375260" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375261" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375262" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375263" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375264" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375265" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375266" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375267" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375268" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "4/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375269" "2" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "0/100 controls" "{PMID:Huang S 2011:21961810}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375270" "11" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "" "{PMID:Jiang H 2012:22906308}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375271" "21" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "" "{PMID:Chen J 2012:23151031}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375272" "21" "99" "7" "107323898" "107323898" "subst" "0.000321337" "02416" "SLC26A4_000022" "g.107323898A>G" "" "{PMID:Chen J 2012:23151031}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000375273" "0" "77" "7" "107334870" "107334870" "subst" "2.44296E-5" "02416" "SLC26A4_000023" "g.107334870C>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ala429Glu:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107694425C>A" "" "VUS" "ACMG" "0000375274" "11" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "" "{PMID:L.Fugazzola 2007:17766716}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375275" "11" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "" "{PMID:L.Fugazzola 2007:17766716}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375276" "11" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "" "{PMID:L.Fugazzola 2007:17766716}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375277" "2" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Arg409His:}" "" "Pathogenic, combined in cis with 262G>A (p.Val88Ile)" "heterozygous; Pathogenic" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375278" "1" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "homozygous; Mutation" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375279" "0" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375280" "0" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375281" "10" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375282" "20" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375283" "10" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "homozygous; Mutation" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375284" "0" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375285" "20" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000024" "g.107330645G>A" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "homozygous; Mutation" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375286" "2" "99" "7" "107330645" "107330645" "subst" "0.000105876" "02416" "SLC26A4_000025" "g.107330645G>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Arg409His:}" "" "" "homozygous; Mutation" "Germline" "" "rs111033305" "0" "" "" "g.107690200G>A" "" "pathogenic" "" "0000375287" "0" "99" "7" "107336460" "107336460" "del" "0" "02416" "SLC26A4_000026" "g.107336460del" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "Pathogenic,described as (SF507,507*)" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107696015del" "" "pathogenic" "" "0000375288" "0" "99" "7" "107336460" "107336460" "del" "0" "02416" "SLC26A4_000026" "g.107336460del" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "Pathogenic,described as (SF507,507*)" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107696015del" "" "pathogenic" "" "0000375289" "0" "99" "7" "107335067" "107335067" "subst" "0" "02416" "SLC26A4_000027" "g.107335067C>A" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107694622C>A" "" "pathogenic" "" "0000375290" "0" "99" "7" "107335067" "107335067" "subst" "0" "02416" "SLC26A4_000027" "g.107335067C>A" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107694622C>A" "" "pathogenic" "" "0000375291" "0" "99" "7" "107330593" "107330593" "subst" "4.06779E-6" "02416" "SLC26A4_000028" "g.107330593A>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Asn392Tyr:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs201562855" "0" "" "" "g.107690148A>T" "" "pathogenic" "" "0000375292" "0" "99" "7" "107330593" "107330593" "subst" "4.06779E-6" "02416" "SLC26A4_000028" "g.107330593A>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Asn392Tyr:}" "" "" "heterozygous; Mutation" "Germline" "" "rs201562855" "0" "" "" "g.107690148A>T" "" "pathogenic" "" "0000375293" "0" "99" "7" "107330593" "107330593" "subst" "4.06779E-6" "02416" "SLC26A4_000028" "g.107330593A>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Asn392Tyr:}" "" "" "heterozygous; Mutation" "Germline" "" "rs201562855" "0" "" "" "g.107690148A>T" "" "pathogenic" "" "0000375294" "0" "99" "7" "107330593" "107330593" "subst" "4.06779E-6" "02416" "SLC26A4_000028" "g.107330593A>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Asn392Tyr:}" "" "" "heterozygous; Mutation" "Germline" "" "rs201562855" "0" "" "" "g.107690148A>T" "" "pathogenic" "" "0000375295" "1" "99" "7" "107330593" "107330593" "subst" "4.06779E-6" "02416" "SLC26A4_000028" "g.107330593A>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Asn392Tyr:}" "" "" "homozygous; Mutation" "Germline" "" "rs201562855" "0" "" "" "g.107690148A>T" "" "pathogenic" "" "0000375296" "0" "99" "7" "107330593" "107330593" "subst" "4.06779E-6" "02416" "SLC26A4_000028" "g.107330593A>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Asn392Tyr:}" "" "" "heterozygous; Mutation" "Germline" "" "rs201562855" "0" "" "" "g.107690148A>T" "" "pathogenic" "" "0000375297" "2" "99" "7" "107330593" "107330593" "subst" "4.06779E-6" "02416" "SLC26A4_000028" "g.107330593A>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Asn392Tyr:}" "" "" "homozygous; Mutation" "Germline" "" "rs201562855" "0" "" "" "g.107690148A>T" "" "pathogenic" "" "0000375298" "0" "99" "7" "107342443" "107342443" "subst" "8.13094E-6" "02416" "SLC26A4_000029" "g.107342443G>C" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Val659Leu:}" "" "" "heterozygous; Mutation" "Germline" "" "rs200455203" "0" "" "" "g.107701998G>C" "" "pathogenic" "" "0000375299" "0" "99" "7" "107342443" "107342443" "subst" "8.13094E-6" "02416" "SLC26A4_000029" "g.107342443G>C" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Val659Leu:}" "" "" "heterozygous; Mutation" "Germline" "" "rs200455203" "0" "" "" "g.107701998G>C" "" "pathogenic" "" "0000375300" "0" "99" "7" "107342443" "107342443" "subst" "8.13094E-6" "02416" "SLC26A4_000029" "g.107342443G>C" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Val659Leu:}" "" "" "heterozygous; Mutation" "Germline" "" "rs200455203" "0" "" "" "g.107701998G>C" "" "pathogenic" "" "0000375301" "0" "99" "7" "107342443" "107342443" "subst" "8.13094E-6" "02416" "SLC26A4_000029" "g.107342443G>C" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Val659Leu:}" "" "" "heterozygous; Mutation" "Germline" "" "rs200455203" "0" "" "" "g.107701998G>C" "" "pathogenic" "" "0000375302" "0" "99" "7" "107342443" "107342443" "subst" "8.13094E-6" "02416" "SLC26A4_000029" "g.107342443G>C" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Val659Leu:}" "" "" "heterozygous; Mutation" "Germline" "" "rs200455203" "0" "" "" "g.107701998G>C" "" "pathogenic" "" "0000375303" "0" "99" "7" "107342443" "107342443" "subst" "8.13094E-6" "02416" "SLC26A4_000029" "g.107342443G>C" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Val659Leu:}" "" "" "heterozygous; Mutation" "Germline" "" "rs200455203" "0" "" "" "g.107701998G>C" "" "pathogenic" "" "0000375304" "21" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375305" "21" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375306" "21" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375307" "21" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375308" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375309" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375310" "21" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375311" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375312" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375313" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375314" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375315" "11" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375316" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375317" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375318" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375319" "11" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375320" "11" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375321" "11" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375322" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375323" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375324" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375325" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375326" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375327" "11" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375328" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375329" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375330" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375331" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375332" "20" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375333" "11" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375334" "11" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375335" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375336" "20" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375337" "21" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375338" "21" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375339" "21" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375340" "21" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375341" "20" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375342" "20" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375343" "20" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375344" "21" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "1/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375345" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:S.Iwasaki 2006:16924389}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375346" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:S.Iwasaki 2006:16924389}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375347" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:S.Iwasaki 2006:16924389}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375348" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375349" "11" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375350" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/200 controls" "{PMID:Lai CC 2007:17697873}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375351" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Lai CC 2007:17697873}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375352" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375353" "1" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375354" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375355" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375356" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375357" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375358" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375359" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375360" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375361" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375362" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375363" "2" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375364" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375365" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375366" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375367" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375368" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375369" "11" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:K.Sakurai 2013:23459462}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375370" "11" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:K.Sakurai 2013:23459462}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375371" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375372" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375373" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375374" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375375" "10" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375376" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375377" "20" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375378" "20" "59" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375379" "20" "59" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375380" "20" "59" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375381" "20" "59" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "homozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375382" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375383" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375384" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375385" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375386" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375387" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375388" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375389" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:A. Ganaha 2013:23705809}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375390" "0" "99" "7" "107350577" "107350577" "subst" "0.000117855" "02416" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.His723Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs121908362" "0" "" "" "g.107710132A>G" "" "pathogenic" "" "0000375391" "1" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "" "{PMID:López-Bigas N 2002:12112665}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "homozygous; Mutation" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375392" "2" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "" "{PMID:López-Bigas N 2002:12112665}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "homozygous; Mutation" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375393" "0" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375394" "0" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375395" "0" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375396" "0" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375397" "0" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375398" "0" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375399" "0" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375400" "0" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375401" "0" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375402" "0" "99" "7" "107330648" "107330648" "subst" "0.000199521" "02416" "SLC26A4_000031" "g.107330648C>T" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Thr410Met:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033220" "0" "" "" "g.107690203C>T" "" "pathogenic" "" "0000375403" "0" "99" "7" "107329575" "107329575" "subst" "0" "02416" "SLC26A4_000032" "g.107329575C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ala360Val:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107689130C>T" "" "pathogenic" "" "0000375404" "0" "99" "7" "107342495" "107342495" "subst" "0" "02416" "SLC26A4_000033" "g.107342495T>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Leu676Gln:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033318" "0" "" "" "g.107702050T>A" "" "pathogenic" "" "0000375405" "0" "99" "7" "107342495" "107342495" "subst" "0" "02416" "SLC26A4_000033" "g.107342495T>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Leu676Gln:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033318" "0" "" "" "g.107702050T>A" "" "pathogenic" "" "0000375406" "0" "99" "7" "107342495" "107342495" "subst" "0" "02416" "SLC26A4_000033" "g.107342495T>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Leu676Gln:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033318" "0" "" "" "g.107702050T>A" "" "pathogenic" "" "0000375407" "0" "99" "7" "107342495" "107342495" "subst" "0" "02416" "SLC26A4_000033" "g.107342495T>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Leu676Gln:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033318" "0" "" "" "g.107702050T>A" "" "pathogenic" "" "0000375408" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Mutation" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375409" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Mutation" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375410" "10" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:Huang S 2011:21961810}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "homozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375411" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "Pathogenic, SLC26A4 expression is lost in pateints with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Mutation" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375412" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "Pathogenic, SLC26A4 expression is lost in pateints with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Mutation" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375413" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "Pathogenic, SLC26A4 expression is lost in pateints with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Mutation" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375414" "20" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:Huang S 2011:21961810}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "homozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375415" "0" "59" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Mutation" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375416" "10" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "homozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375417" "10" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "homozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375418" "10" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "homozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375419" "10" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375420" "10" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "homozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375421" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375422" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375423" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375424" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375425" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375426" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375427" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375428" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375429" "20" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "homozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375430" "20" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "homozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375431" "20" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "homozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375432" "20" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375433" "20" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "homozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375434" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000034" "g.107340625G>A" "0/200 controls" "{PMID:A. Ganaha 2013:23705809}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375435" "10" "99" "7" "107342297" "107342297" "subst" "0" "02416" "SLC26A4_000035" "g.107342297C>A" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107701852C>A" "" "pathogenic" "" "0000375436" "20" "99" "7" "107342297" "107342297" "subst" "0" "02416" "SLC26A4_000035" "g.107342297C>A" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107701852C>A" "" "pathogenic" "" "0000375437" "0" "99" "7" "107342297" "107342297" "subst" "0" "02416" "SLC26A4_000035" "g.107342297C>A" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107701852C>A" "" "pathogenic" "" "0000375438" "0" "99" "7" "107335067" "107335067" "subst" "2.03399E-5" "02416" "SLC26A4_000036" "g.107335067C>T" "0/200 controls" "{PMID:Lai CC 2007:17697873}; USMA-{MSV3dO43511p.Ser448Leu:}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107694622C>T" "" "pathogenic" "" "0000375439" "0" "99" "7" "107335067" "107335067" "subst" "2.03399E-5" "02416" "SLC26A4_000036" "g.107335067C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ser448Leu:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107694622C>T" "" "pathogenic" "" "0000375440" "0" "99" "7" "107335067" "107335067" "subst" "2.03399E-5" "02416" "SLC26A4_000036" "g.107335067C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ser448Leu:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107694622C>T" "" "pathogenic" "" "0000375441" "0" "99" "7" "107338536" "107338537" "delins" "0" "02416" "SLC26A4_000037" "g.107338536_107338537delinsT" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "Pathogenic,described as 1594AG>T(SF532,545*)" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107698091_107698092delinsT" "" "pathogenic" "" "0000375442" "0" "99" "7" "107338536" "107338537" "delins" "0" "02416" "SLC26A4_000037" "g.107338536_107338537delinsT" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "Pathogenic,described as 1594AG>T(SF532,545*)" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107698091_107698092delinsT" "" "pathogenic" "" "0000375443" "0" "99" "7" "107323927" "107323927" "subst" "0" "02416" "SLC26A4_000038" "g.107323927G>T" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107683482G>T" "" "pathogenic" "" "0000375444" "0" "99" "7" "107323927" "107323927" "subst" "0" "02416" "SLC26A4_000038" "g.107323927G>T" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107683482G>T" "" "pathogenic" "" "0000375445" "0" "99" "7" "107329646" "107329646" "subst" "0" "02416" "SLC26A4_000039" "g.107329646G>A" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107689201G>A" "" "pathogenic" "" "0000375446" "0" "75" "7" "107338528" "107338528" "subst" "0" "02416" "SLC26A4_000040" "g.107338528T>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ile529Ser:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107698083T>G" "" "VUS" "ACMG" "0000375447" "0" "75" "7" "107338528" "107338528" "subst" "0" "02416" "SLC26A4_000040" "g.107338528T>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ile529Ser:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107698083T>G" "" "VUS" "ACMG" "0000375448" "0" "77" "7" "107303857" "107303857" "subst" "4.06118E-6" "02416" "SLC26A4_000041" "g.107303857C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Thr94Ile:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107663412C>T" "" "VUS" "ACMG" "0000375449" "0" "99" "7" "107334902" "107334902" "subst" "0" "02416" "SLC26A4_000042" "g.107334902A>T" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107694457A>T" "" "pathogenic" "" "0000375450" "0" "99" "7" "107334902" "107334902" "subst" "0" "02416" "SLC26A4_000042" "g.107334902A>T" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107694457A>T" "" "pathogenic" "" "0000375451" "0" "77" "7" "107314756" "107314756" "subst" "1.2184E-5" "02416" "SLC26A4_000043" "g.107314756T>C" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ile188Thr:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107674311T>C" "" "VUS" "ACMG" "0000375452" "0" "99" "7" "107314689" "107314689" "del" "0" "02416" "SLC26A4_000044" "g.107314689del" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107674244del" "" "pathogenic" "" "0000375453" "0" "99" "7" "107338489" "107338489" "dup" "0" "02416" "SLC26A4_000045" "g.107338489dup" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "1548insC (Frameshift)" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107698044dup" "" "pathogenic" "" "0000375454" "11" "99" "7" "107338489" "107338489" "dup" "0" "02416" "SLC26A4_000045" "g.107338489dup" "" "{PMID:Chen J 2012:23151031}" "" "1548insC" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107698044dup" "" "pathogenic" "" "0000375455" "11" "99" "7" "107338489" "107338489" "dup" "0" "02416" "SLC26A4_000045" "g.107338489dup" "" "{PMID:Chen J 2012:23151031}" "" "1548insC" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107698044dup" "" "pathogenic" "" "0000375456" "0" "75" "7" "107323693" "107323693" "subst" "0" "02416" "SLC26A4_000046" "g.107323693A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Asp271Gly:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107683248A>G" "" "VUS" "ACMG" "0000375457" "0" "75" "7" "107330644" "107330644" "subst" "1.62851E-5" "02416" "SLC26A4_000047" "g.107330644C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Arg409Cys:}" "" "" "heterozygous; Mutation" "Germline" "" "rs147952620" "0" "" "" "g.107690199C>T" "" "VUS" "ACMG" "0000375458" "0" "75" "7" "107330592" "107330592" "subst" "0" "02416" "SLC26A4_000048" "g.107330592C>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ser391Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107690147C>A" "" "VUS" "ACMG" "0000375459" "0" "99" "7" "107302088" "107302088" "subst" "7.18296E-5" "02416" "SLC26A4_000049" "g.107302088T>C" "0/192 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Met1Thr:}" "" "Pathogeni Functional studies showed endoplasmic reticulum retention with no surface expression confirming its pathogenicity (B.Choi et al.,2009) - described as p.Met1Thr" "heterozygous; Pathogenic" "Germline" "" "rs111033302" "0" "" "" "g.107661643T>C" "" "pathogenic" "" "0000375460" "0" "99" "7" "107302088" "107302088" "subst" "7.18296E-5" "02416" "SLC26A4_000049" "g.107302088T>C" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Met1Thr:}" "" "Pathogeni Functional studies showed endoplasmic reticulum retention with no surface expression confirming its pathogenicity (B.Choi et al.,2009)" "heterozygous; Mutation" "Germline" "" "rs111033302" "0" "" "" "g.107661643T>C" "" "pathogenic" "" "0000375461" "0" "99" "7" "107302088" "107302088" "subst" "7.18296E-5" "02416" "SLC26A4_000049" "g.107302088T>C" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Met1Thr:}" "" "Pathogeni Functional studies showed endoplasmic reticulum retention with no surface expression confirming its pathogenicity (B.Choi et al.,2009) - described as p.Met1Thr" "heterozygous; Mutation" "Germline" "" "rs111033302" "0" "" "" "g.107661643T>C" "" "pathogenic" "" "0000375462" "0" "77" "7" "107314782" "107314782" "subst" "4.06204E-6" "02416" "SLC26A4_000050" "g.107314782G>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Gly197Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033380" "0" "" "" "g.107674337G>A" "" "VUS" "ACMG" "0000375463" "0" "77" "7" "107314782" "107314782" "subst" "4.06204E-6" "02416" "SLC26A4_000050" "g.107314782G>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Gly197Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033380" "0" "" "" "g.107674337G>A" "" "VUS" "ACMG" "0000375464" "0" "77" "7" "107314782" "107314782" "subst" "4.06204E-6" "02416" "SLC26A4_000050" "g.107314782G>A" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Gly197Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033380" "0" "" "" "g.107674337G>A" "" "VUS" "ACMG" "0000375465" "0" "75" "7" "107330657" "107330657" "subst" "4.07203E-6" "02416" "SLC26A4_000051" "g.107330657A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Gln413Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs142498437" "0" "" "" "g.107690212A>G" "" "VUS" "ACMG" "0000375466" "0" "75" "7" "107330657" "107330657" "subst" "4.07203E-6" "02416" "SLC26A4_000051" "g.107330657A>G" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Gln413Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "rs142498437" "0" "" "" "g.107690212A>G" "" "VUS" "ACMG" "0000375467" "0" "99" "7" "107312692" "107312692" "del" "0" "02416" "SLC26A4_000052" "g.107312692del" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107672247del" "" "pathogenic" "" "0000375468" "0" "75" "7" "107315543" "107315543" "subst" "4.06369E-6" "02416" "SLC26A4_000053" "g.107315543T>C" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ser252Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107675098T>C" "" "VUS" "ACMG" "0000375469" "0" "35" "7" "107336493" "107336493" "subst" "0.00190677" "02416" "SLC26A4_000054" "g.107336493C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs368970459" "0" "" "" "g.107696048C>T" "" "likely benign" "ACMG" "0000375470" "0" "35" "7" "107336493" "107336493" "subst" "0.00190677" "02416" "SLC26A4_000054" "g.107336493C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "rs368970459" "0" "" "" "g.107696048C>T" "" "likely benign" "ACMG" "0000375471" "0" "99" "7" "107334924" "107334924" "del" "0" "02416" "SLC26A4_000055" "g.107334924del" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107694479del" "" "pathogenic" "" "0000375472" "0" "99" "7" "107303794" "107303794" "del" "0" "02416" "SLC26A4_000056" "g.107303794del" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107663349del" "" "pathogenic" "" "0000375473" "0" "99" "7" "107344827" "107344827" "subst" "1.3773E-5" "02416" "SLC26A4_000057" "g.107344827C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107704382C>T" "" "pathogenic" "" "0000375474" "0" "77" "7" "107342459" "107342459" "subst" "0" "02416" "SLC26A4_000058" "g.107342459C>T" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ala664Val:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107702014C>T" "" "VUS" "ACMG" "0000375475" "0" "75" "7" "107314632" "107314632" "subst" "8.12236E-6" "02416" "SLC26A4_000059" "g.107314632A>G" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Met147Val:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107674187A>G" "" "VUS" "ACMG" "0000375476" "0" "75" "7" "107338536" "107338536" "subst" "0" "02416" "SLC26A4_000060" "g.107338536A>C" "0/400 controls" "{PMID:Huang S 2011:21961810}; USMA-{MSV3dO43511p.Ser532Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107698091A>C" "" "VUS" "ACMG" "0000375477" "0" "99" "7" "107323797" "107323797" "dup" "0" "02416" "SLC26A4_000061" "g.107323797dup" "0/400 controls" "{PMID:Huang S 2011:21961810}" "" "917insG (Frameshift)" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107683352dup" "" "pathogenic" "" "0000375478" "21" "99" "7" "107315451" "107315451" "dup" "0" "02416" "SLC26A4_000062" "g.107315451dup" "" "{PMID:Jiang H 2012:22906308}" "" "662_663insG (p.G221)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107675006dup" "" "pathogenic" "" "0000375479" "0" "99" "7" "107350571" "107350571" "subst" "5.28382E-5" "02416" "SLC26A4_000063" "g.107350571C>T" "" "{PMID:López-Bigas N 2002:12112665}; USMA-{MSV3dO43511p.Thr721Met:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908363" "0" "" "" "g.107710126C>T" "" "pathogenic" "" "0000375480" "1" "99" "7" "107350571" "107350571" "subst" "5.28382E-5" "02416" "SLC26A4_000063" "g.107350571C>T" "" "{PMID:López-Bigas N 2002:12112665}; USMA-{MSV3dO43511p.Thr721Met:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908363" "0" "" "" "g.107710126C>T" "" "pathogenic" "" "0000375481" "2" "99" "7" "107350571" "107350571" "subst" "5.28382E-5" "02416" "SLC26A4_000063" "g.107350571C>T" "" "{PMID:López-Bigas N 2002:12112665}; USMA-{MSV3dO43511p.Thr721Met:}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908363" "0" "" "" "g.107710126C>T" "" "pathogenic" "" "0000375482" "0" "99" "7" "107350571" "107350571" "subst" "5.28382E-5" "02416" "SLC26A4_000063" "g.107350571C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Thr721Met:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908363" "0" "" "" "g.107710126C>T" "" "pathogenic" "" "0000375483" "11" "99" "7" "107350571" "107350571" "subst" "5.28382E-5" "02416" "SLC26A4_000063" "g.107350571C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Thr721Met:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908363" "0" "" "" "g.107710126C>T" "" "pathogenic" "" "0000375484" "11" "99" "7" "107350571" "107350571" "subst" "5.28382E-5" "02416" "SLC26A4_000063" "g.107350571C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Thr721Met:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908363" "0" "" "" "g.107710126C>T" "" "pathogenic" "" "0000375485" "0" "99" "7" "107350571" "107350571" "subst" "5.28382E-5" "02416" "SLC26A4_000063" "g.107350571C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Thr721Met:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908363" "0" "" "" "g.107710126C>T" "" "pathogenic" "" "0000375486" "11" "99" "7" "107350571" "107350571" "subst" "5.28382E-5" "02416" "SLC26A4_000063" "g.107350571C>T" "" "{PMID:Baux, Vaché 2017:29196752}; USMA-{MSV3dO43511p.Thr721Met:}" "" "" "heterozygous; UV4" "Germline" "" "rs121908363" "0" "" "" "g.107710126C>T" "" "pathogenic" "" "0000375487" "0" "99" "7" "107355891" "107355891" "subst" "0" "02416" "SLC26A4_000064" "g.107355891A>G" "" "{PMID:López-Bigas N 2002:12112665}; USMA-{MSV3dO43511p.*781Trpext*42:}" "" "X781X/X823" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107715446A>G" "" "pathogenic" "" "0000375488" "0" "75" "7" "107312673" "107312673" "subst" "0" "02416" "SLC26A4_000065" "g.107312673C>T" "" "{PMID:López-Bigas N 2002:12112665}; USMA-{MSV3dO43511p.Thr132Ile:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107672228C>T" "" "VUS" "ACMG" "0000375489" "0" "99" "7" "107303739" "107303739" "subst" "0" "02416" "SLC26A4_000066" "g.107303739A>G" "" "{PMID:López-Bigas N 2002:12112665}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107663294A>G" "" "pathogenic" "" "0000375490" "0" "75" "7" "107340579" "107340579" "subst" "0" "02416" "SLC26A4_000067" "g.107340579T>C" "" "{PMID:López-Bigas N 2002:12112665}; USMA-{MSV3dO43511p.Tyr556His:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107700134T>C" "" "VUS" "ACMG" "0000375491" "0" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "" "{PMID:López-Bigas N 2002:12112665}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "heterozygous; Mutation" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375492" "10" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "homozygous; Pathogenic" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375493" "0" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "heterozygous; Pathogenic" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375494" "0" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "heterozygous; Pathogenic" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375495" "0" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogeni Functional studies showed endoplasmic reticulum retention with no surface expression of mutant pedrin confirming its pathogenicity (B.Choi et al.,2009)" "heterozygous; Pathogenic" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375496" "20" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "homozygous; Pathogenic" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375497" "0" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "heterozygous; Pathogenic" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375498" "0" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "heterozygous; Pathogenic" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375499" "0" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "heterozygous; Mutation" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375500" "0" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "heterozygous; Mutation" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375501" "0" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "heterozygous; Mutation" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375502" "0" "99" "7" "107334918" "107334918" "subst" "8.55362E-5" "02416" "SLC26A4_000068" "g.107334918T>G" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Leu445Trp:}" "" "Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "heterozygous; Mutation" "Germline" "" "rs111033307" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000375503" "0" "99" "7" "107330617" "107330617" "del" "0" "02416" "SLC26A4_000069" "g.107330617del" "" "{PMID:López-Bigas N 2002:12112665}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs397516413" "0" "" "" "g.107690172del" "" "pathogenic" "" "0000375504" "0" "99" "7" "107330617" "107330617" "del" "0" "02416" "SLC26A4_000069" "g.107330617del" "0/428 controls" "{PMID:A.Pera 2008:19017801}" "" "1197delT (p.C400Ffs*67)" "heterozygous; Mutation" "Germline" "" "rs397516413" "0" "" "" "g.107690172del" "" "pathogenic" "" "0000375505" "0" "99" "7" "107330617" "107330617" "del" "0" "02416" "SLC26A4_000069" "g.107330617del" "0/428 controls" "{PMID:A.Pera 2008:19017801}" "" "1197delT (p.C400Ffs*67)" "heterozygous; Mutation" "Germline" "" "rs397516413" "0" "" "" "g.107690172del" "" "pathogenic" "" "0000375506" "0" "99" "7" "107312685" "107312689" "del" "0" "02416" "SLC26A4_000070" "g.107312685_107312689del" "" "{PMID:López-Bigas N 2002:12112665}" "" "406del5 (FS135/X179)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107672240_107672244del" "" "pathogenic" "" "0000375507" "0" "35" "7" "107342266" "107342266" "subst" "0.000277236" "02416" "SLC26A4_000071" "g.107342266G>A" "0/100 controls" "{PMID:Yang JJ 2005:15574297}" "" "" "heterozygous; Mutation" "Germline" "" "rs377713770" "0" "" "" "g.107701821G>A" "" "likely benign" "ACMG" "0000375508" "0" "99" "7" "107312690" "107312690" "subst" "0.000166652" "02416" "SLC26A4_000072" "g.107312690G>T" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Val138Phe:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107672245G>T" "" "pathogenic" "" "0000375509" "0" "99" "7" "107312690" "107312690" "subst" "0.000166652" "02416" "SLC26A4_000072" "g.107312690G>T" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Val138Phe:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107672245G>T" "" "pathogenic" "" "0000375510" "0" "99" "7" "107312690" "107312690" "subst" "0.000166652" "02416" "SLC26A4_000072" "g.107312690G>T" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Val138Phe:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107672245G>T" "" "pathogenic" "" "0000375511" "0" "99" "7" "107312690" "107312690" "subst" "0.000166652" "02416" "SLC26A4_000072" "g.107312690G>T" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Val138Phe:}" "" "Pathogenic, functional studies showed no activity of mutant pendrin (Taylor JP et al;2002)" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107672245G>T" "" "pathogenic" "" "0000375512" "0" "99" "7" "107312690" "107312690" "subst" "0.000166652" "02416" "SLC26A4_000072" "g.107312690G>T" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Val138Phe:}" "" "" "heterozygous; loss of function mutation (Taylor ,2002); Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107672245G>T" "" "pathogenic" "" "0000375513" "0" "99" "7" "107312690" "107312690" "subst" "0.000166652" "02416" "SLC26A4_000072" "g.107312690G>T" "" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Val138Phe:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033313" "0" "" "" "g.107672245G>T" "" "pathogenic" "" "0000375514" "0" "99" "7" "107312690" "107312690" "subst" "0.000166652" "02416" "SLC26A4_000072" "g.107312690G>T" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Val138Phe:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107672245G>T" "" "pathogenic" "" "0000375515" "0" "99" "7" "107312690" "107312690" "subst" "0.000166652" "02416" "SLC26A4_000072" "g.107312690G>T" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Val138Phe:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107672245G>T" "" "pathogenic" "" "0000375516" "0" "99" "7" "107312690" "107312690" "subst" "0.000166652" "02416" "SLC26A4_000072" "g.107312690G>T" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Val138Phe:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107672245G>T" "" "pathogenic" "" "0000375517" "0" "99" "7" "107312690" "107312690" "subst" "0.000166652" "02416" "SLC26A4_000072" "g.107312690G>T" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Val138Phe:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs111033313" "0" "" "" "g.107672245G>T" "" "pathogenic" "" "0000375518" "0" "35" "7" "107355874" "107355874" "subst" "0.00183177" "02416" "SLC26A4_000073" "g.107355874C>T" "1/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Arg776Cys:}" "" "" "heterozygous; No functional implication" "Germline" "" "rs111033255" "0" "" "" "g.107715429C>T" "" "likely benign" "ACMG" "0000375519" "0" "35" "7" "107355874" "107355874" "subst" "0.00183177" "02416" "SLC26A4_000073" "g.107355874C>T" "0/192 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Arg776Cys:}" "" "" "heterozygous; No pathogenicity" "Germline" "" "rs111033255" "0" "" "" "g.107715429C>T" "" "likely benign" "ACMG" "0000375520" "0" "35" "7" "107355874" "107355874" "subst" "0.00183177" "02416" "SLC26A4_000073" "g.107355874C>T" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Arg776Cys:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033255" "0" "" "" "g.107715429C>T" "" "likely benign" "ACMG" "0000375521" "0" "75" "7" "107314639" "107314639" "subst" "0" "02416" "SLC26A4_000074" "g.107314639G>A" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Gly149Glu:}" "" "p.(G149R)" "heterozygous; Expected impairment of pendrin function" "Germline" "" "" "0" "" "" "g.107674194G>A" "" "VUS" "ACMG" "0000375522" "0" "99" "7" "107314771" "107314771" "subst" "2.03072E-5" "02416" "SLC26A4_000075" "g.107314771C>T" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Thr193Ile:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033348" "0" "" "" "g.107674326C>T" "" "pathogenic" "" "0000375523" "0" "75" "7" "107314618" "107314618" "subst" "0" "02416" "SLC26A4_000076" "g.107314618C>T" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Pro142Leu:}" "" "" "heterozygous; Expected impairment of pendrin function" "Germline" "" "" "0" "" "" "g.107674173C>T" "" "VUS" "ACMG" "0000375524" "0" "99" "7" "107303855" "107303855" "del" "4.06111E-6" "02416" "SLC26A4_000077" "g.107303855del" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107663410del" "" "pathogenic" "" "0000375525" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:C.Campbell 2001:11317356}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375526" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:C.Campbell 2001:11317356}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375527" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:C.Campbell 2001:11317356}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375528" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:C.Campbell 2001:11317356}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375529" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:C.Campbell 2001:11317356}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375530" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:C.Campbell 2001:11317356}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375531" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:C.Campbell 2001:11317356}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375532" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:C.Campbell 2001:11317356}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375533" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:C.Campbell 2001:11317356}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375534" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:C.Campbell 2001:11317356}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375535" "21" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "Pathogenic, Exon 8 donor splice site" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375536" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:S.Iwasaki 2006:16924389}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375537" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:B.Choi 2009:19204907}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375538" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:B.Choi 2009:19204907}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375539" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:B.Choi 2009:19204907}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375540" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:B.Choi 2009:19204907}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375541" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375542" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:M.Ladsous 2014:24224479}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375543" "0" "99" "7" "107323983" "107323983" "subst" "0.000183618" "02416" "SLC26A4_000078" "g.107323983G>A" "" "{PMID:M.Ladsous 2014:24224479}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338849" "0" "" "" "g.107683538G>A" "" "pathogenic" "" "0000375544" "0" "11" "7" "107342294" "107342294" "subst" "0.0103557" "02416" "SLC26A4_000079" "g.107342294T>G" "2/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Val609Gly:}" "" "" "heterozygous; SNP" "Germline" "" "rs17154335" "0" "" "" "g.107701849T>G" "" "benign" "ACMG" "0000375545" "1" "11" "7" "107342294" "107342294" "subst" "0.0103557" "02416" "SLC26A4_000079" "g.107342294T>G" "2/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Val609Gly:}" "" "" "heterozygous; in cis with c.2218G>A (p.Gly740Ser) and c.2130C>T (p.(=)); SNP" "Germline" "" "rs17154335" "0" "" "" "g.107701849T>G" "" "benign" "" "0000375546" "0" "11" "7" "107342294" "107342294" "subst" "0.0103557" "02416" "SLC26A4_000079" "g.107342294T>G" "0/60 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Val609Gly:}" "" "" "heterozygous; Mutation" "Germline" "" "rs17154335" "0" "" "" "g.107701849T>G" "" "benign" "ACMG" "0000375547" "0" "11" "7" "107342294" "107342294" "subst" "0.0103557" "02416" "SLC26A4_000079" "g.107342294T>G" "17/364 controls" "{PMID:V.de Moraes 2013:23273637}; USMA-{MSV3dO43511p.Val609Gly:}" "" "" "heterozygous; SNP" "Germline" "" "rs17154335" "0" "" "" "g.107701849T>G" "" "benign" "ACMG" "0000375548" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375549" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375550" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375551" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375552" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375553" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375554" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375555" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375556" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375557" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375558" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "Pathogenic, functional studies showed no activity of mutant pendrin (Scott et al;2000)" "heterozygous; Pathogenic" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375559" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; loss of function mutation (Scott ,2000); Pathogenic" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375560" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; loss of function mutation (Scott ,2000); Pathogenic" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375561" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375562" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375563" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375564" "0" "99" "7" "107330665" "107330665" "subst" "0.000207697" "02416" "SLC26A4_000080" "g.107330665A>C" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Thr416Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs28939086" "0" "" "" "g.107690220A>C" "" "pathogenic" "" "0000375565" "0" "99" "7" "107342483" "107342483" "subst" "0" "02416" "SLC26A4_000081" "g.107342483G>T" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Gly672Val:}" "" "Pathogenic,described as p.(G672E)" "heterozygous; Mutation" "Germline" "" "rs111033309" "0" "" "" "g.107702038G>T" "" "pathogenic" "" "0000375566" "10" "99" "7" "107342483" "107342483" "subst" "0" "02416" "SLC26A4_000081" "g.107342483G>T" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Gly672Val:}" "" "Pathogenic,described as p.(G672E)" "homozygous; Mutation" "Germline" "" "rs111033309" "0" "" "" "g.107702038G>T" "" "pathogenic" "" "0000375567" "10" "99" "7" "107342483" "107342483" "subst" "0" "02416" "SLC26A4_000081" "g.107342483G>T" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Gly672Val:}" "" "Pathogenic,described as p.(G672E)" "homozygous; Mutation" "Germline" "" "rs111033309" "0" "" "" "g.107702038G>T" "" "pathogenic" "" "0000375568" "0" "99" "7" "107342483" "107342483" "subst" "0" "02416" "SLC26A4_000081" "g.107342483G>T" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Gly672Val:}" "" "Pathogenic,described as p.(G672E)" "heterozygous; Mutation" "Germline" "" "rs111033309" "0" "" "" "g.107702038G>T" "" "pathogenic" "" "0000375569" "20" "59" "7" "107342483" "107342483" "subst" "0" "02416" "SLC26A4_000081" "g.107342483G>T" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Gly672Val:}" "" "Pathogenic,described as p.(G672E)" "homozygous; Mutation" "Germline" "" "rs111033309" "0" "" "" "g.107702038G>T" "" "pathogenic" "" "0000375570" "20" "99" "7" "107342483" "107342483" "subst" "0" "02416" "SLC26A4_000081" "g.107342483G>T" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Gly672Val:}" "" "Pathogenic,described as p.(G672E)" "homozygous; Mutation" "Germline" "" "rs111033309" "0" "" "" "g.107702038G>T" "" "pathogenic" "" "0000375571" "0" "75" "7" "107315415" "107315415" "subst" "0.000308644" "02416" "SLC26A4_000082" "g.107315415G>T" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Gly209Val:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs111033303" "0" "" "" "g.107674970G>T" "" "VUS" "ACMG" "0000375572" "0" "75" "7" "107315415" "107315415" "subst" "0.000308644" "02416" "SLC26A4_000082" "g.107315415G>T" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Gly209Val:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs111033303" "0" "" "" "g.107674970G>T" "" "VUS" "ACMG" "0000375573" "0" "75" "7" "107315415" "107315415" "subst" "0.000308644" "02416" "SLC26A4_000082" "g.107315415G>T" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Gly209Val:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs111033303" "0" "" "" "g.107674970G>T" "" "VUS" "ACMG" "0000375574" "0" "75" "7" "107315415" "107315415" "subst" "0.000308644" "02416" "SLC26A4_000082" "g.107315415G>T" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gly209Val:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs111033303" "0" "" "" "g.107674970G>T" "" "VUS" "ACMG" "0000375575" "0" "75" "7" "107315415" "107315415" "subst" "0.000308644" "02416" "SLC26A4_000082" "g.107315415G>T" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gly209Val:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs111033303" "0" "" "" "g.107674970G>T" "" "VUS" "ACMG" "0000375576" "0" "75" "7" "107315415" "107315415" "subst" "0.000308644" "02416" "SLC26A4_000082" "g.107315415G>T" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Gly209Val:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Pathogenic" "Germline" "" "rs111033303" "0" "" "" "g.107674970G>T" "" "VUS" "ACMG" "0000375577" "0" "75" "7" "107315415" "107315415" "subst" "0.000308644" "02416" "SLC26A4_000082" "g.107315415G>T" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Gly209Val:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Pathogenic" "Germline" "" "rs111033303" "0" "" "" "g.107674970G>T" "" "VUS" "ACMG" "0000375578" "0" "75" "7" "107315415" "107315415" "subst" "0.000308644" "02416" "SLC26A4_000082" "g.107315415G>T" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Gly209Val:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs111033303" "0" "" "" "g.107674970G>T" "" "VUS" "ACMG" "0000375579" "0" "75" "7" "107315415" "107315415" "subst" "0.000308644" "02416" "SLC26A4_000082" "g.107315415G>T" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Gly209Val:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs111033303" "0" "" "" "g.107674970G>T" "" "VUS" "ACMG" "0000375580" "0" "75" "7" "107315415" "107315415" "subst" "0.000308644" "02416" "SLC26A4_000082" "g.107315415G>T" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Gly209Val:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs111033303" "0" "" "" "g.107674970G>T" "" "VUS" "ACMG" "0000375581" "0" "99" "7" "107302171" "107302171" "subst" "9.62872E-5" "02416" "SLC26A4_000083" "g.107302171G>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Glu29Gln:}" "" "Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)" "heterozygous; Mutation" "Germline" "" "rs111033205" "0" "" "" "g.107661726G>C" "" "pathogenic" "" "0000375582" "0" "99" "7" "107302171" "107302171" "subst" "9.62872E-5" "02416" "SLC26A4_000083" "g.107302171G>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Glu29Gln:}" "" "Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)" "heterozygous; Mutation" "Germline" "" "rs111033205" "0" "" "" "g.107661726G>C" "" "pathogenic" "" "0000375583" "0" "99" "7" "107302171" "107302171" "subst" "9.62872E-5" "02416" "SLC26A4_000083" "g.107302171G>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Glu29Gln:}" "" "Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)" "heterozygous; Mutation" "Germline" "" "rs111033205" "0" "" "" "g.107661726G>C" "" "pathogenic" "" "0000375584" "1" "99" "7" "107302171" "107302171" "subst" "9.62872E-5" "02416" "SLC26A4_000083" "g.107302171G>C" "1/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Glu29Gln:}" "" "Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "rs111033205" "0" "" "" "g.107661726G>C" "" "pathogenic" "" "0000375585" "0" "99" "7" "107302171" "107302171" "subst" "9.62872E-5" "02416" "SLC26A4_000083" "g.107302171G>C" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Glu29Gln:}" "" "Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)" "heterozygous; Mutation" "Germline" "" "rs111033205" "0" "" "" "g.107661726G>C" "" "pathogenic" "" "0000375586" "21" "99" "7" "107302171" "107302171" "subst" "9.62872E-5" "02416" "SLC26A4_000083" "g.107302171G>C" "" "{PMID:Baux, Vaché 2017:29196752}; USMA-{MSV3dO43511p.Glu29Gln:}" "" "Pathogeni Functional studies showed reduced activity of mutant pendrin (A.Pera et al.,2008)" "heterozygous; UV3" "Germline" "" "rs111033205" "0" "" "" "g.107661726G>C" "" "pathogenic" "" "0000375587" "0" "75" "7" "107312595" "107312595" "subst" "0" "02416" "SLC26A4_000084" "g.107312595C>A" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Ala106Asp:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107672150C>A" "" "VUS" "ACMG" "0000375588" "0" "75" "7" "107312595" "107312595" "subst" "0" "02416" "SLC26A4_000084" "g.107312595C>A" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Ala106Asp:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107672150C>A" "" "VUS" "ACMG" "0000375589" "0" "99" "7" "107315496" "107315496" "subst" "0.000284264" "02416" "SLC26A4_000085" "g.107315496T>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Leu236Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338848" "0" "" "" "g.107675051T>C" "" "pathogenic" "" "0000375590" "0" "99" "7" "107315496" "107315496" "subst" "0.000284264" "02416" "SLC26A4_000085" "g.107315496T>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Leu236Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "rs80338848" "0" "" "" "g.107675051T>C" "" "pathogenic" "" "0000375591" "0" "99" "7" "107315496" "107315496" "subst" "0.000284264" "02416" "SLC26A4_000085" "g.107315496T>C" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Leu236Pro:}" "" "" "heterozygous; loss of function mutation (Scott ,2000); Pathogenic" "Germline" "" "rs80338848" "0" "" "" "g.107675051T>C" "" "pathogenic" "" "0000375592" "0" "99" "7" "107315496" "107315496" "subst" "0.000284264" "02416" "SLC26A4_000085" "g.107315496T>C" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Leu236Pro:}" "" "Pathogenic, functional studies showed no actvity of mutant pendrin (Scott et al;2000)" "heterozygous; Pathogenic" "Germline" "" "rs80338848" "0" "" "" "g.107675051T>C" "" "pathogenic" "" "0000375593" "0" "99" "7" "107323664" "107323664" "dup" "0" "02416" "SLC26A4_000086" "g.107323664dup" "" "{PMID:C.Campbell 2001:11317356}" "" "783_784insT (X286)" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107683219dup" "" "pathogenic" "" "0000375594" "0" "35" "7" "107341628" "107341628" "subst" "0.00843142" "02416" "SLC26A4_000087" "g.107341628T>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Leu597Ser:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs55638457" "0" "" "" "g.107701183T>C" "" "likely benign" "ACMG" "0000375595" "0" "35" "7" "107341628" "107341628" "subst" "0.00843142" "02416" "SLC26A4_000087" "g.107341628T>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Leu597Ser:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs55638457" "0" "" "" "g.107701183T>C" "" "likely benign" "ACMG" "0000375596" "0" "35" "7" "107341628" "107341628" "subst" "0.00843142" "02416" "SLC26A4_000087" "g.107341628T>C" "" "{PMID:C.Campbell 2001:11317356}; USMA-{MSV3dO43511p.Leu597Ser:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs55638457" "0" "" "" "g.107701183T>C" "" "likely benign" "ACMG" "0000375597" "0" "35" "7" "107341628" "107341628" "subst" "0.00843142" "02416" "SLC26A4_000087" "g.107341628T>C" "5/400 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Leu597Ser:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Pathogenicity indeterminate" "Germline" "" "rs55638457" "0" "" "" "g.107701183T>C" "" "likely benign" "ACMG" "0000375598" "0" "35" "7" "107341628" "107341628" "subst" "0.00843142" "02416" "SLC26A4_000087" "g.107341628T>C" "5/400 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Leu597Ser:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Pathogenicity indeterminate" "Germline" "" "rs55638457" "0" "" "" "g.107701183T>C" "" "likely benign" "ACMG" "0000375599" "0" "35" "7" "107341628" "107341628" "subst" "0.00843142" "02416" "SLC26A4_000087" "g.107341628T>C" "5/400 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Leu597Ser:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Pathogenicity indeterminate" "Germline" "" "rs55638457" "0" "" "" "g.107701183T>C" "" "likely benign" "ACMG" "0000375600" "0" "35" "7" "107341628" "107341628" "subst" "0.00843142" "02416" "SLC26A4_000087" "g.107341628T>C" "5/400 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Leu597Ser:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Pathogenicity indeterminate" "Germline" "" "rs55638457" "0" "" "" "g.107701183T>C" "" "likely benign" "ACMG" "0000375601" "0" "35" "7" "107341628" "107341628" "subst" "0.00843142" "02416" "SLC26A4_000087" "g.107341628T>C" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Leu597Ser:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Mutation" "Germline" "" "rs55638457" "0" "" "" "g.107701183T>C" "" "likely benign" "ACMG" "0000375602" "0" "99" "7" "107323798" "107323798" "del" "0" "02416" "SLC26A4_000088" "g.107323798del" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107683353del" "" "pathogenic" "" "0000375603" "11" "99" "7" "107329611" "107329611" "subst" "0" "02416" "SLC26A4_000089" "g.107329611C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Ala372Val:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908364" "0" "" "" "g.107689166C>T" "" "pathogenic" "" "0000375604" "0" "99" "7" "107329611" "107329611" "subst" "0" "02416" "SLC26A4_000089" "g.107329611C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Ala372Val:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908364" "0" "" "" "g.107689166C>T" "" "pathogenic" "" "0000375605" "10" "99" "7" "107329611" "107329611" "subst" "0" "02416" "SLC26A4_000089" "g.107329611C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Ala372Val:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908364" "0" "" "" "g.107689166C>T" "" "pathogenic" "" "0000375606" "10" "99" "7" "107329611" "107329611" "subst" "0" "02416" "SLC26A4_000089" "g.107329611C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Ala372Val:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908364" "0" "" "" "g.107689166C>T" "" "pathogenic" "" "0000375607" "0" "99" "7" "107329611" "107329611" "subst" "0" "02416" "SLC26A4_000089" "g.107329611C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Ala372Val:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908364" "0" "" "" "g.107689166C>T" "" "pathogenic" "" "0000375608" "0" "99" "7" "107350519" "107350520" "ins" "0" "02416" "SLC26A4_000090" "g.107350519_107350520insGCTGC" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "Pathogenic, describes as 2111insGCTGC" "heterozygous; Pathogenic" "Germline" "" "rs147733656" "0" "" "" "g.107710074_107710075insGCTGC" "" "pathogenic" "" "0000375609" "21" "99" "7" "107350519" "107350520" "ins" "0" "02416" "SLC26A4_000090" "g.107350519_107350520insGCTGC" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "Pathogenic, describes as 2111insGCTGC" "heterozygous; Pathogenic" "Germline" "" "rs147733656" "0" "" "" "g.107710074_107710075insGCTGC" "" "pathogenic" "" "0000375610" "11" "99" "7" "107329601" "107329601" "subst" "0" "02416" "SLC26A4_000091" "g.107329601A>G" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Lys369Glu:}" "" "" "heterozygous; Pathogenic" "Germline" "" "rs121908361" "0" "" "" "g.107689156A>G" "" "pathogenic" "" "0000375611" "0" "99" "7" "107340564" "107340564" "dup" "0" "02416" "SLC26A4_000092" "g.107340564dup" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "1652insT ( stop codon at position 556)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107700119dup" "" "pathogenic" "" "0000375612" "21" "99" "7" "107342297" "107342297" "subst" "0" "02416" "SLC26A4_000093" "g.107342297C>A" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Ser610*:}" "" "" "heterozygous; Likely pathogenic mutation" "Germline" "" "" "0" "" "" "g.107701852C>A" "" "pathogenic" "" "0000375613" "10" "75" "7" "107342438" "107342438" "subst" "0" "02416" "SLC26A4_000094" "g.107342438G>A" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Ser657Asn:}" "" "" "heterozygous; Likely pathogenic mutation" "Germline" "" "" "0" "" "" "g.107701993G>A" "" "VUS" "ACMG" "0000375614" "0" "75" "7" "107312645" "107312645" "subst" "4.0619E-6" "02416" "SLC26A4_000095" "g.107312645C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Pro123Ser:}" "" "" "heterozygous; Likely pathogenic mutation" "Germline" "" "" "0" "" "" "g.107672200C>T" "" "VUS" "ACMG" "0000375615" "10" "77" "7" "107342465" "107342465" "subst" "0" "02416" "SLC26A4_000096" "g.107342465C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Ser666Phe:}" "" "" "heterozygous; Likely pathogenic mutation" "Germline" "" "" "0" "" "" "g.107702020C>T" "" "VUS" "ACMG" "0000375616" "21" "77" "7" "107342465" "107342465" "subst" "0" "02416" "SLC26A4_000096" "g.107342465C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Ser666Phe:}" "" "" "heterozygous; Likely pathogenic mutation" "Germline" "" "" "0" "" "" "g.107702020C>T" "" "VUS" "ACMG" "0000375617" "20" "75" "7" "107342465" "107342465" "subst" "0" "02416" "SLC26A4_000096" "g.107342465C>T" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Ser666Phe:}" "" "" "heterozygous; Likely pathogenic mutation" "Germline" "" "" "0" "" "" "g.107702020C>T" "" "VUS" "ACMG" "0000375618" "0" "75" "7" "107340607" "107340607" "subst" "0" "02416" "SLC26A4_000097" "g.107340607G>A" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Cys565Tyr:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Pathogenic" "Germline" "" "rs111033257" "0" "" "" "g.107700162G>A" "" "VUS" "ACMG" "0000375619" "21" "99" "7" "107315389" "107315389" "subst" "0" "02416" "SLC26A4_000098" "g.107315389G>A" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "Pathogenic, exon 6 acceptor splice site" "heterozygous; Likely pathogenic mutation" "Germline" "" "" "0" "" "" "g.107674944G>A" "" "pathogenic" "" "0000375620" "0" "99" "7" "107312600" "107312600" "del" "0" "02416" "SLC26A4_000099" "g.107312600del" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}" "" "" "heterozygous; Likely pathogenic mutation" "Germline" "" "" "0" "" "" "g.107672155del" "" "pathogenic" "" "0000375621" "0" "99" "7" "107312600" "107312600" "del" "0" "02416" "SLC26A4_000099" "g.107312600del" "" "{PMID:S.Iwasaki 2006:16924389}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107672155del" "" "pathogenic" "" "0000375622" "0" "75" "7" "107314632" "107314632" "subst" "8.12236E-6" "02416" "SLC26A4_000100" "g.107314632A>G" "0/192 controls" "{PMID:K.Tsukamoto 2003:14508505}; USMA-{MSV3dO43511p.Met147Val:}" "" "" "heterozygous; Likely pathogenic mutation" "Germline" "" "" "0" "" "" "g.107674187A>G" "" "VUS" "ACMG" "0000375623" "0" "99" "7" "107340625" "107340625" "subst" "8.18257E-6" "02416" "SLC26A4_000101" "g.107340625G>A" "" "{PMID:S.Iwasaki 2006:16924389}" "" "Pathogenic, SLC26A4 expression is lost in patients with homozygous mutation, but it is reduced in patients with compound heterozygous mutation (IVS15+5G>A/H723R) (A. Ganaha et al.,2013)" "heterozygous; Pathogenic" "Germline" "" "rs192366176" "0" "" "" "g.107700180G>A" "" "pathogenic" "" "0000375624" "0" "75" "7" "107341581" "107341581" "subst" "0" "02416" "SLC26A4_000102" "g.107341581G>C" "" "{PMID:S.Iwasaki 2006:16924389}; USMA-{MSV3dO43511p.Arg581Ser:}" "" "" "heterozygous; Pathogenic effect suspected" "Germline" "" "" "0" "" "" "g.107701136G>C" "" "VUS" "ACMG" "0000375625" "21" "99" "7" "107338504" "107338514" "dup" "0" "02416" "SLC26A4_000104" "g.107338504_107338514dup" "" "{PMID:L.Fugazzola 2007:17766716}" "" "1561_1571dup (p.S523fsX548) Functional studies demontrated an impaired Pendrin function in cells expressing mutant pendrin (L.Fugazzola et al.,2007)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107698059_107698069dup" "" "pathogenic" "" "0000375626" "21" "99" "7" "107338504" "107338514" "dup" "0" "02416" "SLC26A4_000104" "g.107338504_107338514dup" "" "{PMID:L.Fugazzola 2007:17766716}" "" "1561_1571dup (p.S523fsX548) Functional studies demontrated an impaired Pendrin function in cells expressing mutant pendrin (L.Fugazzola et al.,2007)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107698059_107698069dup" "" "pathogenic" "" "0000375627" "21" "99" "7" "107338504" "107338514" "dup" "0" "02416" "SLC26A4_000104" "g.107338504_107338514dup" "" "{PMID:L.Fugazzola 2007:17766716}" "" "1561_1571dup (p.S523fsX548) Functional studies demontrated an impaired Pendrin function in cells expressing mutant pendrin (L.Fugazzola et al.,2007)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107698059_107698069dup" "" "pathogenic" "" "0000375628" "0" "99" "7" "107330570" "107330570" "subst" "0.000109824" "02416" "SLC26A4_000105" "g.107330570A>G" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Glu384Gly:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033244" "0" "" "" "g.107690125A>G" "" "pathogenic" "" "0000375629" "0" "99" "7" "107330570" "107330570" "subst" "0.000109824" "02416" "SLC26A4_000105" "g.107330570A>G" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Glu384Gly:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033244" "0" "" "" "g.107690125A>G" "" "pathogenic" "" "0000375630" "0" "99" "7" "107330570" "107330570" "subst" "0.000109824" "02416" "SLC26A4_000105" "g.107330570A>G" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Glu384Gly:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033244" "0" "" "" "g.107690125A>G" "" "pathogenic" "" "0000375631" "0" "99" "7" "107330570" "107330570" "subst" "0.000109824" "02416" "SLC26A4_000105" "g.107330570A>G" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Glu384Gly:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033244" "0" "" "" "g.107690125A>G" "" "pathogenic" "" "0000375632" "0" "99" "7" "107330570" "107330570" "subst" "0.000109824" "02416" "SLC26A4_000105" "g.107330570A>G" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Glu384Gly:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033244" "0" "" "" "g.107690125A>G" "" "pathogenic" "" "0000375633" "0" "99" "7" "107330570" "107330570" "subst" "0.000109824" "02416" "SLC26A4_000105" "g.107330570A>G" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Glu384Gly:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033244" "0" "" "" "g.107690125A>G" "" "pathogenic" "" "0000375634" "0" "99" "7" "107330570" "107330570" "subst" "0.000109824" "02416" "SLC26A4_000105" "g.107330570A>G" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Glu384Gly:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033244" "0" "" "" "g.107690125A>G" "" "pathogenic" "" "0000375635" "0" "99" "7" "107338530" "107338530" "subst" "2.03287E-5" "02416" "SLC26A4_000106" "g.107338530T>C" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Tyr530His:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033254" "0" "" "" "g.107698085T>C" "" "pathogenic" "" "0000375636" "0" "99" "7" "107338530" "107338530" "subst" "2.03287E-5" "02416" "SLC26A4_000106" "g.107338530T>C" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Tyr530His:}" "" "" "heterozygous; Mutation" "Germline" "" "rs111033254" "0" "" "" "g.107698085T>C" "" "pathogenic" "" "0000375637" "0" "99" "7" "107330617" "107330617" "del" "0" "02416" "SLC26A4_000107" "g.107330617del" "" "{PMID:M.Ladsous 2014:24224479}" "" "" "heterozygous; Mutation" "Germline" "" "rs397516413" "0" "" "" "g.107690172del" "" "pathogenic" "" "0000375638" "0" "75" "7" "107330681" "107330681" "subst" "8.1493E-6" "02416" "SLC26A4_000108" "g.107330681A>C" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Gln421Pro:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107690236A>C" "" "VUS" "ACMG" "0000375639" "0" "99" "7" "107350536" "107350536" "del" "0" "02416" "SLC26A4_000109" "g.107350536del" "" "{PMID:M.Ladsous 2014:24224479}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107710091del" "" "pathogenic" "" "0000375640" "0" "99" "7" "107350536" "107350536" "del" "0" "02416" "SLC26A4_000109" "g.107350536del" "" "{PMID:M.Ladsous 2014:24224479}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107710091del" "" "pathogenic" "" "0000375641" "0" "99" "7" "107344831" "107344831" "subst" "1.3822E-5" "02416" "SLC26A4_000110" "g.107344831G>A" "" "{PMID:M.Ladsous 2014:24224479}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107704386G>A" "" "pathogenic" "" "0000375642" "0" "75" "7" "107302170" "107302170" "subst" "0" "02416" "SLC26A4_000111" "g.107302170C>A" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Ser28Arg:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107661725C>A" "" "VUS" "ACMG" "0000375643" "0" "99" "7" "107340526" "107340526" "subst" "4.0705E-6" "02416" "SLC26A4_000112" "g.107340526A>G" "" "{PMID:M.Ladsous 2014:24224479}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107700081A>G" "" "pathogenic" "" "0000375644" "10" "99" "7" "107334926" "107334926" "subst" "1.62971E-5" "02416" "SLC26A4_000113" "g.107334926G>C" "" "{PMID:M.Ladsous 2014:24224479}" "" "" "homozygous; Mutation" "Germline" "" "rs376653349" "0" "" "" "g.107694481G>C" "" "pathogenic" "" "0000375645" "20" "55" "7" "107334926" "107334926" "subst" "1.62971E-5" "02416" "SLC26A4_000113" "g.107334926G>C" "" "{PMID:M.Ladsous 2014:24224479}" "" "" "homozygous; Mutation" "Germline" "" "rs376653349" "0" "" "" "g.107694481G>C" "" "pathogenic" "" "0000375646" "0" "99" "7" "107350583" "107350586" "dup" "0" "02416" "SLC26A4_000114" "g.107350583_107350586dup" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107710138_107710141dup" "" "pathogenic" "" "0000375647" "0" "99" "7" "107330584" "107330584" "subst" "0" "02416" "SLC26A4_000115" "g.107330584G>C" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Gly389Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107690139G>C" "" "pathogenic" "" "0000375648" "0" "99" "7" "107350580" "107350580" "subst" "1.62557E-5" "02416" "SLC26A4_000116" "g.107350580A>G" "2/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Asp724Gly:}" "" "" "heterozygous; loss of function mutation (A.Pera ,2008); Pathogenic" "Germline" "" "" "0" "" "" "g.107710135A>G" "" "pathogenic" "" "0000375649" "0" "99" "7" "107350580" "107350580" "subst" "1.62557E-5" "02416" "SLC26A4_000116" "g.107350580A>G" "2/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Asp724Gly:}" "" "" "heterozygous; loss of function mutation (A.Pera ,2008); Pathogenic" "Germline" "" "" "0" "" "" "g.107710135A>G" "" "pathogenic" "" "0000375650" "0" "99" "7" "107350580" "107350580" "subst" "1.62557E-5" "02416" "SLC26A4_000116" "g.107350580A>G" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Asp724Gly:}" "" "" "heterozygous; loss of function mutation (A.Pera ,2008); Mutation" "Germline" "" "" "0" "" "" "g.107710135A>G" "" "pathogenic" "" "0000375651" "0" "11" "7" "107323951" "107323951" "subst" "0.00238588" "02416" "SLC26A4_000117" "g.107323951A>T" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Asn324Tyr:}" "" "" "heterozygous; Mutation" "Germline" "" "rs36039758" "0" "" "" "g.107683506A>T" "" "benign" "ACMG" "0000375652" "0" "75" "7" "107342455" "107342455" "subst" "0" "02416" "SLC26A4_000118" "g.107342455G>A" "0/200 controls" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Gly663Arg:}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107702010G>A" "" "VUS" "ACMG" "0000375653" "0" "99" "7" "107312676" "107312676" "subst" "0" "02416" "SLC26A4_000119" "g.107312676C>A" "" "{PMID:M.Ladsous 2014:24224479}; USMA-{MSV3dO43511p.Ser133*:}" "" "" "heterozygous; Mutation" "Germline" "" "" "0" "" "" "g.107672231C>A" "" "pathogenic" "" "0000375654" "0" "35" "7" "107355872" "107355872" "subst" "0" "02416" "SLC26A4_000120" "g.107355872T>C" "0/190 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Met775Thr:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Pathogenicity indeterminate" "Germline" "" "" "0" "" "" "g.107715427T>C" "" "likely benign" "ACMG" "0000375655" "0" "55" "7" "107355872" "107355872" "subst" "0" "02416" "SLC26A4_000120" "g.107355872T>C" "0/190 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Met775Thr:}" "" "" "heterozygous; possible pathogenic effect discussed in Choi , 2009; Pathogenicity indeterminate" "Germline" "" "" "0" "" "" "g.107715427T>C" "" "likely benign" "ACMG" "0000375656" "0" "99" "7" "107334924" "107335067" "dup" "0" "02416" "SLC26A4_000121" "g.107334924_107335067dup" "" "{PMID:B.Choi 2009:19204907}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107694479_107694622dup" "" "pathogenic" "" "0000375657" "0" "99" "7" "107334924" "107335067" "dup" "0" "02416" "SLC26A4_000121" "g.107334924_107335067dup" "" "{PMID:B.Choi 2009:19204907}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107694479_107694622dup" "" "pathogenic" "" "0000375658" "0" "99" "7" "107334924" "107335067" "dup" "0" "02416" "SLC26A4_000121" "g.107334924_107335067dup" "" "{PMID:B.Choi 2009:19204907}" "" "" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107694479_107694622dup" "" "pathogenic" "" "0000375659" "0" "11" "7" "107301238" "107301238" "subst" "0" "02416" "SLC26A4_000122" "g.107301238C>G" "0/146 controls" "{PMID:B.Choi 2009:19204907}" "" "" "heterozygous; No pathogenicity" "Germline" "" "rs17154282" "0" "" "" "g.107660793C>G" "" "benign" "ACMG" "0000375660" "0" "99" "7" "107329499" "107329499" "subst" "0.000870081" "02416" "SLC26A4_000123" "g.107329499T>C" "0/188 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Phe335Leu:}" "" "" "heterozygous; Pathogenicity indeterminate" "Germline" "" "rs111033212" "0" "" "" "g.107689054T>C" "" "pathogenic" "" "0000375661" "0" "99" "7" "107329499" "107329499" "subst" "0.000870081" "02416" "SLC26A4_000123" "g.107329499T>C" "0/188 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Phe335Leu:}" "" "" "heterozygous; Pathogenicity indeterminate" "Germline" "" "rs111033212" "0" "" "" "g.107689054T>C" "" "pathogenic" "" "0000375662" "0" "99" "7" "107330623" "107330623" "subst" "0" "02416" "SLC26A4_000124" "g.107330623G>A" "0/172 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Val402Met:}" "" "Pathogenic, functional studies of mutant pendrin showed endoplasmic reticulum retention with no surfance expression (B.Choi et al.,2009)" "heterozygous; Pathogenic" "Germline" "" "rs397516414" "0" "" "" "g.107690178G>A" "" "pathogenic" "" "0000375663" "0" "99" "7" "107330623" "107330623" "subst" "0" "02416" "SLC26A4_000124" "g.107330623G>A" "0/172 controls" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Val402Met:}" "" "Pathogenic, functional studies of mutant pendrin showed endoplasmic reticulum retention with no surfance expression (B.Choi et al.,2009)" "heterozygous; Pathogenic" "Germline" "" "rs397516414" "0" "" "" "g.107690178G>A" "" "pathogenic" "" "0000375664" "0" "99" "7" "107336481" "107336481" "subst" "5.28331E-5" "02416" "SLC26A4_000125" "g.107336481A>G" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Gln514Arg:}" "" "Pathogenic, functional studies of mutant pendrin showed endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "heterozygous; Pathogenic" "Germline" "" "rs111033316" "0" "" "" "g.107696036A>G" "" "pathogenic" "" "0000375665" "0" "99" "7" "107336481" "107336481" "subst" "5.28331E-5" "02416" "SLC26A4_000125" "g.107336481A>G" "" "{PMID:B.Choi 2009:19204907}; USMA-{MSV3dO43511p.Gln514Arg:}" "" "Pathogenic, functional studies of mutant pendrin showed endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009)" "heterozygous; Pathogenic" "Germline" "" "rs111033316" "0" "" "" "g.107696036A>G" "" "pathogenic" "" "0000375666" "0" "55" "7" "107301244" "107301244" "subst" "0" "02416" "SLC26A4_000126" "g.107301244A>G" "0/146 controls" "{PMID:B.Choi 2009:19204907}" "" "" "heterozygous; pathogenicity indeterminate, highly conserved among orthologs (B.Choi ,2009); Pathogenicity indeterminate" "Germline" "" "" "0" "" "" "g.107660799A>G" "" "VUS" "ACMG" "0000375667" "0" "99" "7" "107301201" "107301201" "subst" "0" "02416" "SLC26A4_000127" "g.107301201T>C" "0/146 controls" "{PMID:B.Choi 2009:19204907}" "" "" "heterozygous; may affect transcription (Yang ,2007); Pathogenicity indeterminate" "Germline" "" "rs60284988" "0" "" "" "g.107660756T>C" "" "pathogenic" "" "0000375668" "0" "99" "7" "107301201" "107301201" "subst" "0" "02416" "SLC26A4_000127" "g.107301201T>C" "" "{PMID:Baux, Vaché 2017:29196752}" "" "" "heterozygous; may affect transcription (Yang ,2007)" "Germline" "" "rs60284988" "0" "" "" "g.107660756T>C" "" "pathogenic" "" "0000375669" "21" "99" "7" "107350515" "107350519" "dup" "0" "02416" "SLC26A4_000128" "g.107350515_107350519dup" "" "{PMID:K.Sakurai 2013:23459462}" "" "2110insGCTGG" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107710070_107710074dup" "" "pathogenic" "" "0000375670" "21" "99" "7" "107350515" "107350519" "dup" "0" "02416" "SLC26A4_000128" "g.107350515_107350519dup" "" "{PMID:K.Sakurai 2013:23459462}" "" "2110insGCTGG" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107710070_107710074dup" "" "pathogenic" "" "0000375671" "2" "11" "7" "107303838" "107303838" "subst" "1.62435E-5" "02416" "SLC26A4_000129" "g.107303838G>A" "1/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Val88Ile:}" "" "" "heterozygous; in cis with c.1226G>A (p.Arg409His). No significant functional impairement (A.Pera ,2008).; Non-pathogenic polymorphism" "Germline" "" "" "0" "" "" "g.107663393G>A" "" "benign" "" "0000375672" "1" "11" "7" "107350539" "107350539" "subst" "0.00471851" "02416" "SLC26A4_000130" "g.107350539C>T" "1/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Asp710Asp:}" "" "" "heterozygous; in cis with c.1826T>G (p.Val609Gly) and c.2218G>A (p.Gly740Ser); Silent mutation" "Germline" "" "rs17154347" "0" "" "" "g.107710094C>T" "" "benign" "" "0000375673" "0" "11" "7" "107350627" "107350627" "subst" "0.00350364" "02416" "SLC26A4_000131" "g.107350627G>A" "1/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gly740Ser:}" "" "" "heterozygous; SNP" "Germline" "" "rs17154353" "0" "" "" "g.107710182G>A" "" "benign" "ACMG" "0000375674" "1" "11" "7" "107350627" "107350627" "subst" "0.00350364" "02416" "SLC26A4_000131" "g.107350627G>A" "1/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gly740Ser:}" "" "" "heterozygous; in cis with c.1826T>G (p.Val609Gly) and c.2130C>T (p.(=)); SNP" "Germline" "" "rs17154353" "0" "" "" "g.107710182G>A" "" "benign" "" "0000375675" "0" "99" "7" "107334855" "107334855" "subst" "0" "02416" "SLC26A4_000132" "g.107334855G>A" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gly424Asp:}" "" "Pathogeni Functional studies showed a significant reduced activity of mutant pendrin (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107694410G>A" "" "pathogenic" "" "0000375676" "0" "99" "7" "107334855" "107334855" "subst" "0" "02416" "SLC26A4_000132" "g.107334855G>A" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gly424Asp:}" "" "Pathogeni Functional studies showed a significant reduced activity of mutant pendrin (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107694410G>A" "" "pathogenic" "" "0000375677" "10" "99" "7" "107336480" "107336480" "subst" "0" "02416" "SLC26A4_000133" "g.107336480C>A" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gln514Lys:}" "" "1541C>A (p.Q514K). Loss of function mutation (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "rs121908366" "0" "" "" "g.107696035C>A" "" "pathogenic" "" "0000375678" "0" "99" "7" "107336480" "107336480" "subst" "0" "02416" "SLC26A4_000133" "g.107336480C>A" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gln514Lys:}" "" "1541C>A (p.Q514K). Loss of function mutation (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "rs121908366" "0" "" "" "g.107696035C>A" "" "pathogenic" "" "0000375679" "0" "99" "7" "107336480" "107336480" "subst" "0" "02416" "SLC26A4_000133" "g.107336480C>A" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gln514Lys:}" "" "1541C>A (p.Q514K). Loss of function mutation (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "rs121908366" "0" "" "" "g.107696035C>A" "" "pathogenic" "" "0000375680" "0" "99" "7" "107336480" "107336480" "subst" "0" "02416" "SLC26A4_000133" "g.107336480C>A" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gln514Lys:}" "" "1541C>A (p.Q514K). Loss of function mutation (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "rs121908366" "0" "" "" "g.107696035C>A" "" "pathogenic" "" "0000375681" "0" "99" "7" "107336480" "107336480" "subst" "0" "02416" "SLC26A4_000133" "g.107336480C>A" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gln514Lys:}" "" "1541C>A (p.Q514K). Loss of function mutation (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "rs121908366" "0" "" "" "g.107696035C>A" "" "pathogenic" "" "0000375682" "0" "99" "7" "107336480" "107336480" "subst" "0" "02416" "SLC26A4_000133" "g.107336480C>A" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gln514Lys:}" "" "1541C>A (p.Q514K). Loss of function mutation (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "rs121908366" "0" "" "" "g.107696035C>A" "" "pathogenic" "" "0000375683" "20" "99" "7" "107336480" "107336480" "subst" "0" "02416" "SLC26A4_000133" "g.107336480C>A" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gln514Lys:}" "" "1541C>A (p.Q514K). Loss of function mutation (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "rs121908366" "0" "" "" "g.107696035C>A" "" "pathogenic" "" "0000375684" "0" "99" "7" "107336480" "107336480" "subst" "0" "02416" "SLC26A4_000133" "g.107336480C>A" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gln514Lys:}" "" "1541C>A (p.Q514K). Loss of function mutation (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "rs121908366" "0" "" "" "g.107696035C>A" "" "pathogenic" "" "0000375685" "0" "99" "7" "107336480" "107336480" "subst" "0" "02416" "SLC26A4_000133" "g.107336480C>A" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Gln514Lys:}" "" "1541C>A (p.Q514K). Loss of function mutation (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "rs121908366" "0" "" "" "g.107696035C>A" "" "pathogenic" "" "0000375686" "0" "99" "7" "107304172" "107318226" "del" "0" "02416" "SLC26A4_000134" "g.107304172_107318226del" "0/428 controls" "{PMID:A.Pera 2008:19017801}" "" "Pathogenic, intragenic deletion of 14052kb" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107663727_107677781del" "" "pathogenic" "" "0000375687" "0" "99" "7" "107304172" "107318226" "del" "0" "02416" "SLC26A4_000134" "g.107304172_107318226del" "0/428 controls" "{PMID:A.Pera 2008:19017801}" "" "Pathogenic, intragenic deletion of 14052kb" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107663727_107677781del" "" "pathogenic" "" "0000375688" "0" "99" "7" "107336394" "107336394" "subst" "0" "02416" "SLC26A4_000135" "g.107336394C>G" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Thr485Arg:}" "" "Pathogeni Functional studies showed significant reduced activity of mutant pendrin (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107695949C>G" "" "pathogenic" "" "0000375689" "0" "99" "7" "107336394" "107336394" "subst" "0" "02416" "SLC26A4_000135" "g.107336394C>G" "0/428 controls" "{PMID:A.Pera 2008:19017801}; USMA-{MSV3dO43511p.Thr485Arg:}" "" "Pathogeni Functional studies showed significant reduced activity of mutant pendrin (A.Pera et al.,2008)" "heterozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.107695949C>G" "" "pathogenic" "" "0000375690" "0" "35" "7" "107323726" "107323726" "subst" "2.03331E-5" "02427" "SLC26A4_000137" "g.107323726G>A" "" "de Moraes 2016; USMA-{MSV3dO43511:p.Cys282Tyr}" "" "" "heterozygous; Reduced function" "Germline" "" "rs111033454" "0" "" "" "g.107683281G>A" "" "likely benign" "" "0000375691" "3" "99" "7" "107302252" "107302252" "subst" "0" "02416" "SLC26A4_000138" "g.107302252T>C" "" "{PMID:Baux, Vaché 2017:29196752}" "" "" "homozygous" "Germline" "" "rs397516420" "0" "" "" "g.107661807T>C" "" "pathogenic (recessive)" "" "0000530343" "0" "50" "7" "107301201" "107301201" "subst" "0" "02327" "SLC26A4_000127" "g.107301201T>C" "" "" "" "SLC26A4(NM_000441.1):c.-103T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107660756T>C" "" "VUS" "" "0000530344" "0" "10" "7" "107302101" "107302101" "subst" "0.00146722" "02330" "SLC26A4_000210" "g.107302101C>A" "" "" "" "SLC26A4(NM_000441.2):c.15C>A (p.G5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107661656C>A" "" "benign" "" "0000530345" "0" "90" "7" "107302171" "107302171" "subst" "9.62872E-5" "01943" "SLC26A4_000083" "g.107302171G>C" "" "" "" "SLC26A4(NM_000441.1):c.85G>C (p.E29Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107661726G>C" "" "pathogenic" "" "0000530346" "0" "50" "7" "107303776" "107303776" "subst" "2.03028E-5" "02327" "SLC26A4_000211" "g.107303776C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107663331C>G" "" "VUS" "" "0000530347" "0" "50" "7" "107312625" "107312625" "subst" "0" "02327" "SLC26A4_000212" "g.107312625G>A" "" "" "" "SLC26A4(NM_000441.1):c.347G>A (p.G116D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107672180G>A" "" "VUS" "" "0000530348" "0" "90" "7" "107314608" "107314608" "subst" "4.06128E-6" "02327" "SLC26A4_000213" "g.107314608G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107674163G>A" "" "pathogenic" "" "0000530349" "0" "90" "7" "107314609" "107314609" "subst" "0" "01943" "SLC26A4_000156" "g.107314609G>C" "" "" "" "SLC26A4(NM_000441.1):c.416G>C (p.G139A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107674164G>C" "" "pathogenic" "" "0000530350" "0" "50" "7" "107314624" "107314624" "subst" "8.12229E-6" "02330" "SLC26A4_000214" "g.107314624T>C" "" "" "" "SLC26A4(NM_000441.2):c.431T>C (p.V144A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107674179T>C" "" "VUS" "" "0000530352" "0" "10" "7" "107315373" "107315373" "subst" "0.00247267" "02330" "SLC26A4_000158" "g.107315373C>T" "" "" "" "SLC26A4(NM_000441.2):c.601-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107674928C>T" "" "benign" "" "0000530354" "0" "90" "7" "107315496" "107315496" "subst" "0.000284264" "01943" "SLC26A4_000085" "g.107315496T>C" "" "" "" "SLC26A4(NM_000441.1):c.707T>C (p.L236P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107675051T>C" "" "pathogenic" "" "0000530355" "0" "90" "7" "107315505" "107315505" "subst" "0.000207113" "01943" "SLC26A4_000161" "g.107315505T>A" "" "" "" "SLC26A4(NM_000441.1):c.716T>A (p.V239D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107675060T>A" "" "pathogenic" "" "0000530356" "0" "50" "7" "107323722" "107323722" "subst" "0.000235891" "01943" "SLC26A4_000217" "g.107323722G>A" "" "" "" "SLC26A4(NM_000441.1):c.841G>A (p.V281I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107683277G>A" "" "VUS" "" "0000530357" "0" "10" "7" "107323730" "107323730" "subst" "0.000707467" "02330" "SLC26A4_000218" "g.107323730G>C" "" "" "" "SLC26A4(NM_000441.1):c.849G>C (p.M283I), SLC26A4(NM_000441.2):c.849G>C (p.M283I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107683285G>C" "" "benign" "" "0000530358" "0" "50" "7" "107323730" "107323730" "subst" "0.000707467" "01943" "SLC26A4_000218" "g.107323730G>C" "" "" "" "SLC26A4(NM_000441.1):c.849G>C (p.M283I), SLC26A4(NM_000441.2):c.849G>C (p.M283I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107683285G>C" "" "VUS" "" "0000530359" "0" "10" "7" "107323779" "107323779" "subst" "0.000983476" "01943" "SLC26A4_000165" "g.107323779A>C" "" "" "" "SLC26A4(NM_000441.1):c.898A>C (p.I300L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107683334A>C" "" "benign" "" "0000530360" "0" "90" "7" "107323898" "107323898" "subst" "0.000321337" "01943" "SLC26A4_000022" "g.107323898A>G" "" "" "" "SLC26A4(NM_000441.1):c.919-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107683453A>G" "" "pathogenic" "" "0000530361" "0" "10" "7" "107323951" "107323951" "subst" "0.00238588" "02327" "SLC26A4_000117" "g.107323951A>T" "" "" "" "SLC26A4(NM_000441.2):c.970A>T (p.N324Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107683506A>T" "" "benign" "" "0000530362" "0" "50" "7" "107329489" "107329489" "subst" "0" "02327" "SLC26A4_000219" "g.107329489A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107689044A>G" "" "VUS" "" "0000530363" "0" "30" "7" "107329557" "107329557" "subst" "0.000601709" "01943" "SLC26A4_000207" "g.107329557T>C" "" "" "" "SLC26A4(NM_000441.1):c.1061T>C (p.F354S, p.(Phe354Ser)), SLC26A4(NM_000441.2):c.1061T>C (p.F354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107689112T>C" "" "likely benign" "" "0000530364" "0" "50" "7" "107329557" "107329557" "subst" "0.000601709" "01804" "SLC26A4_000207" "g.107329557T>C" "" "" "" "SLC26A4(NM_000441.1):c.1061T>C (p.F354S, p.(Phe354Ser)), SLC26A4(NM_000441.2):c.1061T>C (p.F354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107689112T>C" "" "VUS" "" "0000530365" "0" "90" "7" "107330645" "107330645" "subst" "0.000105876" "02327" "SLC26A4_000024" "g.107330645G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107690200G>A" "" "pathogenic" "" "0000530366" "0" "50" "7" "107336397" "107336397" "subst" "0" "02325" "SLC26A4_000220" "g.107336397G>C" "" "" "" "SLC26A4(NM_000441.2):c.1457G>C (p.C486S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107695952G>C" "" "VUS" "" "0000530367" "0" "50" "7" "107336493" "107336493" "subst" "0" "02327" "SLC26A4_000221" "g.107336493C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107696048C>G" "" "VUS" "" "0000530368" "0" "50" "7" "107338561" "107338561" "subst" "0" "02327" "SLC26A4_000222" "g.107338561G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107698116G>A" "" "VUS" "" "0000530369" "0" "50" "7" "107340529" "107340529" "subst" "0.000195381" "01943" "SLC26A4_000223" "g.107340529T>C" "" "" "" "SLC26A4(NM_000441.1):c.1616T>C (p.I539T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107700084T>C" "" "VUS" "" "0000530370" "0" "30" "7" "107342361" "107342361" "subst" "1.21981E-5" "01943" "SLC26A4_000224" "g.107342361C>A" "" "" "" "SLC26A4(NM_000441.1):c.1893C>A (p.T631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107701916C>A" "" "likely benign" "" "0000530371" "0" "10" "7" "107350548" "107350548" "subst" "0.000678636" "01943" "SLC26A4_000225" "g.107350548T>G" "" "" "" "SLC26A4(NM_000441.1):c.2139T>G (p.I713M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107710103T>G" "" "benign" "" "0000530372" "0" "50" "7" "107350644" "107350644" "subst" "1.21986E-5" "02327" "SLC26A4_000153" "g.107350644G>A" "" "" "" "SLC26A4(NM_000441.2):c.2235G>A (p.T745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107710199G>A" "" "VUS" "" "0000530373" "0" "50" "7" "107353020" "107353021" "ins" "0" "02325" "SLC26A4_000226" "g.107353020_107353021insCTT" "" "" "" "SLC26A4(NM_000441.1):c.2272_2273insCTT (p.E757_L758insS), SLC26A4(NM_000441.2):c.2272_2273insCTT (p.E757_L758insS)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107712575_107712576insCTT" "" "VUS" "" "0000530374" "0" "50" "7" "107355874" "107355874" "subst" "0.00183177" "02327" "SLC26A4_000073" "g.107355874C>T" "" "" "" "SLC26A4(NM_000441.1):c.2326C>T (p.R776C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107715429C>T" "" "VUS" "" "0000610607" "0" "30" "7" "107303763" "107303763" "subst" "4.06055E-6" "01943" "SLC26A4_000227" "g.107303763G>A" "" "" "" "SLC26A4(NM_000441.1):c.187G>A (p.G63S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107663318G>A" "" "likely benign" "" "0000610608" "0" "50" "7" "107312682" "107312682" "subst" "0" "02327" "SLC26A4_000228" "g.107312682A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107672237A>G" "" "VUS" "" "0000610609" "0" "10" "7" "107314593" "107314593" "subst" "0.00242091" "02330" "SLC26A4_000229" "g.107314593G>T" "" "" "" "SLC26A4(NM_000441.2):c.416-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107674148G>T" "" "benign" "" "0000610610" "0" "70" "7" "107323726" "107323726" "subst" "2.03331E-5" "02327" "SLC26A4_000137" "g.107323726G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107683281G>A" "" "likely pathogenic" "" "0000610611" "0" "90" "7" "107330665" "107330665" "subst" "0.000207697" "02330" "SLC26A4_000080" "g.107330665A>C" "" "" "" "SLC26A4(NM_000441.2):c.1246A>C (p.T416P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107690220A>C" "" "pathogenic" "" "0000610612" "0" "90" "7" "107338530" "107338530" "subst" "2.03287E-5" "02327" "SLC26A4_000106" "g.107338530T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107698085T>C" "" "pathogenic" "" "0000610613" "0" "50" "7" "107353020" "107353021" "ins" "0" "01943" "SLC26A4_000226" "g.107353020_107353021insCTT" "" "" "" "SLC26A4(NM_000441.1):c.2272_2273insCTT (p.E757_L758insS), SLC26A4(NM_000441.2):c.2272_2273insCTT (p.E757_L758insS)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107712575_107712576insCTT" "" "VUS" "" "0000652108" "1" "70" "7" "107302082" "107302082" "subst" "9.78905E-5" "03575" "SLC26A4_000230" "g.107302082A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397516411}" "Germline" "" "rs397516411" "0" "" "" "g.107661637A>G" "" "likely pathogenic" "" "0000652109" "1" "70" "7" "107315505" "107315505" "subst" "0.000207113" "03575" "SLC26A4_000161" "g.107315505T>A" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs111033256}" "Germline" "" "rs111033256" "0" "" "" "g.107675060T>A" "" "likely pathogenic" "" "0000652110" "1" "50" "7" "107323753" "107323753" "subst" "7.72289E-5" "03575" "SLC26A4_000231" "g.107323753G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs138816005}" "Germline" "" "rs138816005" "0" "" "" "g.107683308G>A" "" "VUS" "" "0000652111" "1" "70" "7" "107329499" "107329499" "subst" "0.000870081" "03575" "SLC26A4_000123" "g.107329499T>C" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs111033212}" "Germline" "" "rs111033212" "0" "" "" "g.107689054T>C" "" "likely pathogenic" "" "0000652112" "1" "50" "7" "107336408" "107336408" "subst" "0.000393998" "03575" "SLC26A4_000232" "g.107336408A>C" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; {DB:CLININrs200511789}" "Germline" "" "rs200511789" "0" "" "" "g.107695963A>C" "" "VUS" "" "0000652113" "1" "30" "7" "107341628" "107341628" "subst" "0.00843142" "03575" "SLC26A4_000087" "g.107341628T>C" "136/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "136 heterozygous, no homozygous; {DB:CLININrs55638457}" "Germline" "" "rs55638457" "0" "" "" "g.107701183T>C" "" "likely benign" "" "0000652114" "1" "70" "7" "107342495" "107342495" "subst" "0" "03575" "SLC26A4_000033" "g.107342495T>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs111033318}" "Germline" "" "rs111033318" "0" "" "" "g.107702050T>A" "" "likely pathogenic" "" "0000652115" "1" "50" "7" "107350554" "107350554" "subst" "0.00011785" "03575" "SLC26A4_000233" "g.107350554G>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs397516427}" "Germline" "" "rs397516427" "0" "" "" "g.107710109G>T" "" "VUS" "" "0000652117" "1" "30" "7" "107355874" "107355874" "subst" "0.00183177" "03575" "SLC26A4_000073" "g.107355874C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs111033255}" "Germline" "" "rs111033255" "0" "" "" "g.107715429C>T" "" "likely benign" "" "0000655696" "0" "30" "7" "107302221" "107302221" "subst" "0.000276062" "01943" "SLC26A4_000234" "g.107302221G>T" "" "" "" "SLC26A4(NM_000441.1):c.135G>T (p.T45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107661776G>T" "" "likely benign" "" "0000655697" "0" "30" "7" "107314716" "107314716" "subst" "2.84294E-5" "02330" "SLC26A4_000235" "g.107314716A>G" "" "" "" "SLC26A4(NM_000441.2):c.523A>G (p.M175V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107674271A>G" "" "likely benign" "" "0000655698" "0" "50" "7" "107330687" "107330687" "subst" "0" "01943" "SLC26A4_000236" "g.107330687G>T" "" "" "" "SLC26A4(NM_000441.1):c.1263+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107690242G>T" "" "VUS" "" "0000655699" "0" "10" "7" "107335087" "107335087" "subst" "0.00403495" "02330" "SLC26A4_000140" "g.107335087A>T" "" "" "" "SLC26A4(NM_000441.1):c.1363A>T (p.I455F), SLC26A4(NM_000441.2):c.1363A>T (p.I455F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107694642A>T" "" "benign" "" "0000655700" "0" "10" "7" "107342328" "107342328" "subst" "1.62717E-5" "02330" "SLC26A4_000237" "g.107342328T>C" "" "" "" "SLC26A4(NM_000441.2):c.1860T>C (p.D620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107701883T>C" "" "benign" "" "0000655701" "0" "70" "7" "107350580" "107350580" "subst" "1.62557E-5" "02327" "SLC26A4_000116" "g.107350580A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107710135A>G" "" "likely pathogenic" "" "0000655702" "0" "10" "7" "107355902" "107355902" "subst" "0.00193303" "02330" "SLC26A4_000238" "g.107355902G>A" "" "" "" "SLC26A4(NM_000441.2):c.*11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107715457G>A" "" "benign" "" "0000677926" "0" "30" "7" "107323951" "107323951" "subst" "0.00238588" "02330" "SLC26A4_000117" "g.107323951A>T" "" "" "" "SLC26A4(NM_000441.2):c.970A>T (p.N324Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686156" "1" "90" "7" "107315415" "107315415" "subst" "0.000308644" "00006" "SLC26A4_000082" "g.107315415G>T" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686179" "2" "90" "7" "107330570" "107330570" "subst" "0.000109824" "00006" "SLC26A4_000105" "g.107330570A>G" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000689855" "0" "30" "7" "107302114" "107302114" "subst" "0.000148222" "01943" "SLC26A4_000239" "g.107302114C>A" "" "" "" "SLC26A4(NM_000441.1):c.28C>A (p.P10T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689856" "0" "10" "7" "107323627" "107323627" "subst" "0.000366799" "02330" "SLC26A4_000240" "g.107323627A>C" "" "" "" "SLC26A4(NM_000441.2):c.766-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689857" "0" "90" "7" "107340564" "107340564" "dup" "0" "01943" "SLC26A4_000092" "g.107340564dup" "" "" "" "SLC26A4(NM_000441.1):c.1651dupT (p.S551Ffs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721176" "0" "90" "7" "107303880" "107303880" "subst" "0" "02327" "SLC26A4_000241" "g.107303880G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721177" "0" "50" "7" "107312625" "107312625" "subst" "0" "01943" "SLC26A4_000212" "g.107312625G>A" "" "" "" "SLC26A4(NM_000441.1):c.347G>A (p.G116D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721178" "0" "90" "7" "107312648" "107312660" "del" "0" "02327" "SLC26A4_000242" "g.107312648_107312660del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721179" "0" "50" "7" "107314639" "107314639" "subst" "0" "02327" "SLC26A4_000074" "g.107314639G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721180" "0" "50" "7" "107314765" "107314765" "subst" "2.43686E-5" "02327" "SLC26A4_000243" "g.107314765C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721181" "0" "30" "7" "107315385" "107315385" "subst" "6.09563E-5" "01943" "SLC26A4_000244" "g.107315385C>T" "" "" "" "SLC26A4(NM_000441.1):c.601-5C>T, SLC26A4(NM_000441.2):c.601-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721182" "0" "50" "7" "107323731" "107323731" "subst" "1.62635E-5" "02329" "SLC26A4_000245" "g.107323731G>A" "" "" "" "SLC26A4(NM_000441.2):c.850G>A (p.A284T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721183" "0" "50" "7" "107329499" "107329499" "subst" "0.000870081" "01943" "SLC26A4_000123" "g.107329499T>C" "" "" "" "SLC26A4(NM_000441.1):c.1003T>C (p.F335L), SLC26A4(NM_000441.2):c.1003T>C (p.F335L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721184" "0" "50" "7" "107329499" "107329499" "subst" "0.000870081" "02329" "SLC26A4_000123" "g.107329499T>C" "" "" "" "SLC26A4(NM_000441.1):c.1003T>C (p.F335L), SLC26A4(NM_000441.2):c.1003T>C (p.F335L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721185" "0" "50" "7" "107330602" "107330602" "subst" "0" "02327" "SLC26A4_000246" "g.107330602T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000736486" "21" "70" "7" "107312690" "107312690" "subst" "0.000166652" "04006" "SLC26A4_000072" "g.107312690G>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "compound heterozygous" "Germline" "yes" "rs111033199" "0" "" "" "" "{CV-SCV:001792213}, {CV:4835}" "pathogenic (recessive)" "ACMG" "0000736487" "11" "70" "7" "107314747" "107314747" "subst" "9.34124E-5" "04006" "SLC26A4_000157" "g.107314747G>C" "" "{PMID:Batissoco 2021:34599368}" "" "" "compound heterozygous" "Germline" "yes" "rs542620119" "0" "" "" "" "{CV-SCV:001792214}, {CV:188878}" "pathogenic (recessive)" "ACMG" "0000787491" "2" "90" "7" "107334918" "107334918" "subst" "8.55362E-5" "00000" "SLC26A4_000068" "g.107334918T>G" "" "0" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.107694473T>G" "" "pathogenic" "" "0000788734" "0" "70" "7" "107323982" "107323982" "subst" "8.16073E-6" "03779" "SLC26A4_000166" "g.107323982G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs146281367" "0" "" "" "" "" "likely pathogenic" "" "0000794899" "0" "50" "7" "107336483" "107336483" "subst" "0" "03779" "SLC26A4_000247" "g.107336483T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1019021563" "0" "" "" "" "" "VUS" "" "0000795476" "11" "90" "7" "107340526" "107340526" "subst" "4.0705E-6" "04006" "SLC26A4_000112" "g.107340526A>G" "" "{PMID:Batissoco 2021:34599368}" "" "" "in compound heterozygosis with c.481T>A" "Germline" "yes" "" "0" "" "" "g.107700081A>G" "{CV-SCV:001792215}" "likely pathogenic (recessive)" "ACMG" "0000795477" "21" "90" "7" "107314674" "107314674" "subst" "8.12137E-6" "04006" "SLC26A4_000248" "g.107314674T>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "in compound heterozygosis with c.1615-2A>G" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792216}" "likely pathogenic (recessive)" "ACMG" "0000795478" "0" "50" "7" "107340575" "107340575" "subst" "0" "04006" "SLC26A4_000249" "g.107340575T>G" "" "{PMID:Batissoco 2021:34599368}" "" "" "monoallelic" "Germline" "?" "" "" "" "" "" "{CV-SCV:001792217}" "VUS" "ACMG" "0000795479" "3" "70" "7" "107330645" "107330645" "subst" "0.000105876" "04006" "SLC26A4_000024" "g.107330645G>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "{CV-SCV:001792218}" "pathogenic (recessive)" "ACMG" "0000795480" "3" "70" "7" "107330645" "107330645" "subst" "0.000105876" "04006" "SLC26A4_000024" "g.107330645G>A" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000795491" "21" "70" "7" "107312690" "107312690" "subst" "0.000166652" "04006" "SLC26A4_000072" "g.107312690G>T" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000795492" "11" "70" "7" "107314747" "107314747" "subst" "9.34124E-5" "04006" "SLC26A4_000157" "g.107314747G>C" "" "{PMID:Batissoco 2021:34599368}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000796597" "0" "50" "7" "107323901" "107323901" "subst" "7.32172E-5" "03779" "SLC26A4_000250" "g.107323901C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs144691257" "0" "" "" "" "" "VUS" "" "0000796609" "0" "50" "7" "107342431" "107342431" "subst" "2.43938E-5" "03779" "SLC26A4_000252" "g.107342431A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs397516424" "0" "" "" "" "" "VUS" "" "0000796638" "0" "50" "7" "107330614" "107330614" "subst" "0.000134265" "03779" "SLC26A4_000251" "g.107330614T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs747431002" "0" "" "" "" "" "VUS" "" "0000802828" "0" "30" "7" "107302103" "107302103" "subst" "0.00256542" "02330" "SLC26A4_000253" "g.107302103G>T" "" "" "" "SLC26A4(NM_000441.2):c.17G>T (p.G6V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802829" "0" "50" "7" "107312612" "107312612" "subst" "4.06171E-6" "02327" "SLC26A4_000254" "g.107312612C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802830" "0" "10" "7" "107314596" "107314596" "subst" "0.0010398" "02330" "SLC26A4_000204" "g.107314596T>C" "" "" "" "SLC26A4(NM_000441.1):c.416-13T>C, SLC26A4(NM_000441.2):c.416-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802831" "0" "50" "7" "107323975" "107323975" "subst" "0" "01943" "SLC26A4_000255" "g.107323975C>T" "" "" "" "SLC26A4(NM_000441.1):c.994C>T (p.P332S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802832" "0" "90" "7" "107323986" "107323986" "subst" "0" "01943" "SLC26A4_000256" "g.107323986A>G" "" "" "" "SLC26A4(NM_000441.1):c.1001+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802833" "0" "30" "7" "107334932" "107334932" "subst" "0" "01943" "SLC26A4_000257" "g.107334932C>A" "" "" "" "SLC26A4(NM_000441.1):c.1341+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802834" "0" "10" "7" "107336428" "107336428" "subst" "0.00162885" "02330" "SLC26A4_000142" "g.107336428C>T" "" "" "" "SLC26A4(NM_000441.1):c.1488C>T (p.L496=), SLC26A4(NM_000441.2):c.1488C>T (p.L496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802835" "0" "50" "7" "107342266" "107342266" "subst" "0.000277236" "01943" "SLC26A4_000071" "g.107342266G>A" "" "" "" "SLC26A4(NM_000441.1):c.1804-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815725" "0" "70" "7" "107303779" "107303779" "subst" "4.06055E-6" "03779" "SLC26A4_000258" "g.107303779T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs749712560" "0" "" "" "" "" "likely pathogenic" "" "0000815726" "0" "70" "7" "107312690" "107312690" "subst" "0.000166652" "03779" "SLC26A4_000072" "g.107312690G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs111033199" "0" "" "" "" "" "likely pathogenic" "" "0000829042" "0" "70" "7" "107330570" "107330570" "subst" "0.000109824" "03779" "SLC26A4_000105" "g.107330570A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs111033244" "0" "" "" "" "" "likely pathogenic" "" "0000830863" "3" "90" "7" "107350577" "107350577" "subst" "0.000117855" "00006" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:Choi 2013:23990876}" "" "c.A2168G" "rs121908362" "Germline" "" "" "0" "" "" "g.107710132A>G" "" "pathogenic (recessive)" "" "0000830864" "3" "90" "7" "107350577" "107350577" "subst" "0.000117855" "00006" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:Choi 2013:23990876}" "" "c.A2168G" "rs121908362" "Germline" "" "" "0" "" "" "g.107710132A>G" "" "pathogenic (recessive)" "" "0000830865" "3" "90" "7" "107350577" "107350577" "subst" "0.000117855" "00006" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:Choi 2013:23990876}" "" "c.A2168G" "rs121908362" "Germline" "" "" "0" "" "" "g.107710132A>G" "" "pathogenic (recessive)" "" "0000830866" "3" "90" "7" "107350577" "107350577" "subst" "0.000117855" "00006" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:Choi 2013:23990876}" "" "c.A2168G" "rs121908362" "Germline" "" "" "0" "" "" "g.107710132A>G" "" "pathogenic (recessive)" "" "0000830867" "3" "90" "7" "107350577" "107350577" "subst" "0.000117855" "00006" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:Choi 2013:23990876}" "" "c.A2168G" "rs121908362" "Germline" "" "" "0" "" "" "g.107710132A>G" "" "pathogenic (recessive)" "" "0000839385" "0" "70" "7" "107315481" "107315481" "subst" "0" "03779" "SLC26A4_000259" "g.107315481T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000851367" "0" "30" "7" "107323945" "107323945" "subst" "0.000289015" "02330" "SLC26A4_000205" "g.107323945A>G" "" "" "" "SLC26A4(NM_000441.1):c.964A>G (p.N322D), SLC26A4(NM_000441.2):c.964A>G (p.N322D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851368" "0" "50" "7" "107355874" "107355874" "subst" "0.00183177" "01943" "SLC26A4_000073" "g.107355874C>T" "" "" "" "SLC26A4(NM_000441.1):c.2326C>T (p.R776C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860580" "0" "70" "7" "107314664" "107314664" "subst" "4.46708E-5" "02327" "SLC26A4_000260" "g.107314664C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860581" "0" "30" "7" "107314728" "107314728" "subst" "0.000235556" "01943" "SLC26A4_000261" "g.107314728G>A" "" "" "" "SLC26A4(NM_000441.1):c.535G>A (p.A179T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860582" "0" "30" "7" "107336431" "107336431" "subst" "0.000113737" "01943" "SLC26A4_000262" "g.107336431T>C" "" "" "" "SLC26A4(NM_000441.1):c.1491T>C (p.G497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000871768" "0" "50" "7" "107314755" "107314755" "subst" "8.12262E-6" "03779" "SLC26A4_000263" "g.107314755A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs753119943" "0" "" "" "" "" "VUS" "" "0000871803" "0" "30" "7" "107323730" "107323730" "subst" "0.000707467" "03779" "SLC26A4_000218" "g.107323730G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs146348818" "0" "" "" "" "" "likely benign" "" "0000880079" "3" "70" "7" "107334923" "107334924" "delins" "0" "00006" "SLC26A4_000264" "g.107334923_107334924delinsTCT" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "" "" "0" "" "" "g.107694478_107694479delinsTCT" "" "likely pathogenic" "" "0000887541" "0" "10" "7" "107329489" "107329489" "subst" "0.00233432" "02330" "SLC26A4_000167" "g.107329489A>C" "" "" "" "SLC26A4(NM_000441.2):c.1002-9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887542" "0" "70" "7" "107329499" "107329499" "subst" "0.000870081" "02330" "SLC26A4_000123" "g.107329499T>C" "" "" "" "SLC26A4(NM_000441.1):c.1003T>C (p.F335L), SLC26A4(NM_000441.2):c.1003T>C (p.F335L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887543" "0" "30" "7" "107335068" "107335068" "subst" "1.22039E-5" "02330" "SLC26A4_000265" "g.107335068G>A" "" "" "" "SLC26A4(NM_000441.2):c.1344G>A (p.S448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912613" "0" "50" "7" "107323774" "107323774" "subst" "0" "02330" "SLC26A4_000266" "g.107323774T>G" "" "" "" "SLC26A4(NM_000441.2):c.893T>G (p.V298G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912614" "0" "10" "7" "107335087" "107335087" "subst" "0.00403495" "02327" "SLC26A4_000140" "g.107335087A>T" "" "" "" "SLC26A4(NM_000441.1):c.1363A>T (p.I455F), SLC26A4(NM_000441.2):c.1363A>T (p.I455F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924613" "0" "30" "7" "107338564" "107338564" "subst" "9.76499E-5" "02330" "SLC26A4_000267" "g.107338564C>T" "" "" "" "SLC26A4(NM_000441.2):c.1614+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929263" "0" "70" "7" "107329499" "107329499" "subst" "0.000870081" "02327" "SLC26A4_000123" "g.107329499T>C" "" "" "" "SLC26A4(NM_000441.1):c.1003T>C (p.F335L), SLC26A4(NM_000441.2):c.1003T>C (p.F335L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000936034" "0" "90" "7" "107323898" "107323898" "subst" "0.000321337" "00006" "SLC26A4_000022" "g.107323898A>G" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.107683453A>G" "" "pathogenic" "" "0000943883" "3" "90" "7" "107334918" "107334918" "subst" "8.55362E-5" "00006" "SLC26A4_000068" "g.107334918T>G" "" "{PMID:Ammar-Khodja 2015:26029705}" "" "" "" "Germline" "yes" "" "0" "" "" "g.107694473T>G" "" "pathogenic (recessive)" "" "0000943915" "1" "90" "7" "107338489" "107338489" "dup" "0" "00006" "SLC26A4_000045" "g.107338489dup" "" "{PMID:Sang 2019:31379920}" "" "1546dupC" "" "Germline" "" "" "0" "" "" "g.107698044dup" "" "pathogenic (recessive)" "ACMG" "0000943923" "2" "90" "7" "107323898" "107323898" "subst" "0.000321337" "00006" "SLC26A4_000022" "g.107323898A>G" "" "{PMID:Sang 2019:31379920}" "" "" "" "Germline" "" "" "0" "" "" "g.107683453A>G" "" "pathogenic (recessive)" "ACMG" "0000944170" "3" "90" "7" "107302128" "107302128" "del" "0" "00006" "SLC26A4_000268" "g.107302128del" "" "{PMID:Richard 2019: 30303587}" "" "42delC" "" "Germline" "" "" "0" "" "" "g.107661683del" "" "pathogenic (recessive)" "ACMG" "0000944171" "1" "90" "7" "107302157" "107302157" "subst" "0" "00006" "SLC26A4_000269" 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"107330648" "subst" "0.000199521" "00006" "SLC26A4_000031" "g.107330648C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.107690203C>T" "" "pathogenic (recessive)" "" "0000944470" "3" "90" "7" "107303746" "107303746" "subst" "1.21817E-5" "00006" "SLC26A4_000271" "g.107303746C>A" "" "{PMID:Park 2003:12676893}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs111033200" "0" "" "" "g.107663301C>A" "" "pathogenic (recessive)" "" "0000944471" "3" "90" "7" "107315505" "107315505" "subst" "0.000207113" "00006" "SLC26A4_000161" "g.107315505T>A" "" "{PMID:Park 2003:12676893}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs111033256" "0" "" "" "g.107675060T>A" "" "pathogenic (recessive)" "" "0000944472" "3" "90" "7" "107315505" "107315505" "subst" "0.000207113" "00006" "SLC26A4_000161" "g.107315505T>A" "" "{PMID:Park 2003:12676893}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs111033256" "0" "" "" "g.107675060T>A" "" "pathogenic (recessive)" "" "0000944473" "3" "90" "7" "107315505" "107315505" "subst" "0.000207113" "00006" "SLC26A4_000161" "g.107315505T>A" "" "{PMID:Park 2003:12676893}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs111033256" "0" "" "" "g.107675060T>A" "" "pathogenic (recessive)" "" "0000944474" "3" "90" "7" "107315505" "107315505" "subst" "0.000207113" "00006" "SLC26A4_000161" "g.107315505T>A" "" "{PMID:Park 2003:12676893}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs111033256" "0" "" "" "g.107675060T>A" "" "pathogenic (recessive)" "" "0000944475" "3" "90" "7" "107323946" "107323946" "dup" "0" "00006" "SLC26A4_000275" "g.107323946dup" "" "{PMID:Park 2003:12676893}, {PMID:Naz 2017:27573290}" "" "965dupA" "" "Germline" "" "" "0" "" "" "g.107683501dup" "" "pathogenic (recessive)" "" "0000944476" "3" "90" "7" "107334921" "107334921" "subst" "7.73975E-5" "00006" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Kahrizi 2009:18813951}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs768471577" "0" "" "" "g.107694476A>G" "" "pathogenic (recessive)" "" "0000944477" "3" "90" "7" "107334921" "107334921" "subst" "7.73975E-5" "00006" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Reardon 2000:10700480}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs768471577" "0" "" "" "g.107694476A>G" "" "pathogenic (recessive)" "" "0000944478" "3" "90" "7" "107334921" "107334921" "subst" "7.73975E-5" "00006" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Reardon 2000:10700480}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs768471577" "0" "" "" "g.107694476A>G" "" "pathogenic (recessive)" "" "0000944479" "3" "90" "7" "107334921" "107334921" "subst" "7.73975E-5" "00006" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Reardon 2000:10700480}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs768471577" "0" "" "" "g.107694476A>G" "" "pathogenic (recessive)" "" "0000944480" "3" "90" "7" "107334921" "107334921" "subst" "7.73975E-5" "00006" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Reardon 2000:10700480}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs768471577" "0" "" "" "g.107694476A>G" "" "pathogenic (recessive)" "" "0000944481" "3" "90" "7" "107340580" "107340580" "subst" "1.62835E-5" "00006" "SLC26A4_000279" "g.107340580A>G" "" "{PMID:Coyle 1998:9618167}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs763006761" "0" "" "" "g.107700135A>G" "" "pathogenic (recessive)" "" "0000944482" "3" "90" "7" "107340580" "107340580" "subst" "1.62835E-5" "00006" "SLC26A4_000279" "g.107340580A>G" "" "{PMID:Coyle 1998:9618167}, {PMID:Naz 2017:27573290}" "" "" "" "Germline" "" "rs763006761" "0" "" "" "g.107700135A>G" "" "pathogenic (recessive)" "" "0000948795" "0" "90" "7" "107302088" "107302088" "subst" "5.9858E-6" "02327" "SLC26A4_000281" "g.107302088T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964372" "0" "50" "7" "107303785" "107303785" "subst" "0" "02327" "SLC26A4_000282" "g.107303785C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964373" "0" "70" "7" "107303880" "107303880" "subst" "4.06279E-6" "02327" "SLC26A4_000283" "g.107303880G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000964374" "0" "90" "7" "107342459" "107342459" "subst" "0" "02327" "SLC26A4_000058" "g.107342459C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001007026" "0" "90" "7" "107350577" "107350577" "subst" "0.000117855" "03779" "SLC26A4_000030" "g.107350577A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs121908362" "0" "" "" "" "" "pathogenic" "" "0001036050" "0" "10" "7" "107315385" "107315385" "subst" "6.09563E-5" "02330" "SLC26A4_000244" "g.107315385C>T" "" "" "" "SLC26A4(NM_000441.1):c.601-5C>T, SLC26A4(NM_000441.2):c.601-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036051" "0" "50" "7" "107356130" "107356130" "subst" "0" "01804" "SLC26A4_000284" "g.107356130C>T" "" "" "" "SLC26A4(NM_000441.2):c.*239C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044910" "1" "90" "7" "107323898" "107323898" "subst" "0.000321337" "00006" "SLC26A4_000022" "g.107323898A>G" "473/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107683453A>G" "" "pathogenic (recessive)" "" "0001044911" "1" "90" "7" "107350577" "107350577" "subst" "0.000117855" "00006" "SLC26A4_000030" "g.107350577A>G" "39/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107710132A>G" "" "pathogenic (recessive)" "" "0001044912" "1" "90" "7" "107330648" "107330648" "subst" "0.000199521" "00006" "SLC26A4_000031" "g.107330648C>T" "17/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107690203C>T" "" "pathogenic (recessive)" "" "0001044913" "1" "90" "7" "107330579" "107330579" "subst" "8.13564E-6" "00006" "SLC26A4_000297" "g.107330579C>T" "6/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107690134C>T" "" "pathogenic (recessive)" "" "0001044914" "1" "90" "7" "107315543" "107315543" "subst" "4.06369E-6" "00006" "SLC26A4_000053" "g.107315543T>C" "5/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107675098T>C" "" "pathogenic (recessive)" "" "0001044915" "1" "90" "7" "107329611" "107329611" "subst" "0" "00006" "SLC26A4_000089" "g.107329611C>T" "5/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107689166C>T" "" "pathogenic (recessive)" "" "0001044916" "1" "90" "7" "107323797" "107323797" "dup" "0" "00006" "SLC26A4_000061" "g.107323797dup" "5/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "916dupG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107683352dup" "" "pathogenic (recessive)" "" "0001044917" "1" "90" "7" "107302251" "107302251" "subst" "0" "00006" "SLC26A4_000289" "g.107302251G>C" "4/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107661806G>C" "" "pathogenic (recessive)" "" "0001044918" "1" "90" "7" "107315495" "107315495" "subst" "4.87325E-5" "00006" "SLC26A4_000216" "g.107315495C>G" "3/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107675050C>G" "" "pathogenic (recessive)" "" "0001044919" "1" "90" "7" "107335067" "107335067" "subst" "2.03399E-5" "00006" "SLC26A4_000036" "g.107335067C>T" "3/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107694622C>T" "" "pathogenic (recessive)" "" "0001044920" "1" "90" "7" "107314632" "107314632" "subst" "8.12236E-6" "00006" "SLC26A4_000059" "g.107314632A>G" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107674187A>G" "" "pathogenic (recessive)" "" "0001044921" "1" "90" "7" "107329575" "107329575" "subst" "0" "00006" "SLC26A4_000020" "g.107329575C>T" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107689130C>T" "" "pathogenic (recessive)" "" "0001044922" "1" "90" "7" "107330592" "107330592" "subst" "0" "00006" "SLC26A4_000048" "g.107330592C>A" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107690147C>A" "" "pathogenic (recessive)" "" "0001044923" "1" "90" "7" "107334902" "107334902" "subst" "0" "00006" "SLC26A4_000042" "g.107334902A>T" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107694457A>T" "" "pathogenic (recessive)" "" "0001044924" "1" "90" "7" "107336429" "107336429" "subst" "0" "00006" "SLC26A4_000298" "g.107336429G>C" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107695984G>C" "" "pathogenic (recessive)" "" "0001044925" "1" "90" "7" "107344827" "107344827" "subst" "1.3773E-5" "00006" "SLC26A4_000057" "g.107344827C>T" "2/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107704382C>T" "" "pathogenic (recessive)" "" "0001044926" "1" "90" "7" "107302088" "107302088" "subst" "5.9858E-6" "00006" "SLC26A4_000281" "g.107302088T>G" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "(M1R)" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107661643T>G" "" "pathogenic (recessive)" "" "0001044927" "1" "90" "7" "107303806" "107303806" "subst" "0" "00006" "SLC26A4_000290" "g.107303806A>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107663361A>T" "" "pathogenic (recessive)" "" "0001044928" "1" "90" "7" "107303811" "107303811" "subst" "0" "00006" "SLC26A4_000291" "g.107303811C>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107663366C>T" "" "pathogenic (recessive)" "" "0001044929" "1" "90" "7" "107303817" "107303817" "subst" "0" "00006" "SLC26A4_000287" "g.107303817A>G" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107663372A>G" "" "pathogenic (recessive)" "" "0001044930" "1" "90" "7" "107312665" "107312665" "del" "0" "00006" "SLC26A4_000292" "g.107312665del" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "387delC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107672220del" "" "pathogenic (recessive)" "" "0001044931" "1" "90" "7" "107314608" "107314608" "subst" "4.06128E-6" "00006" "SLC26A4_000213" "g.107314608G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107674163G>A" "" "pathogenic (recessive)" "" "0001044932" "1" "90" "7" "107315486" "107315486" "subst" "0.000105583" "00006" "SLC26A4_000293" "g.107315486G>C" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107675041G>C" "" "pathogenic (recessive)" "" "0001044933" "1" "90" "7" "107323801" "107323801" "subst" "8.12843E-6" "00006" "SLC26A4_000294" "g.107323801T>C" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107683356T>C" "" "pathogenic (recessive)" "" "0001044934" "1" "90" "7" "107323983" "107323983" "subst" "0.000183618" "00006" "SLC26A4_000078" "g.107323983G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107683538G>A" "" "pathogenic (recessive)" "" "0001044935" "1" "90" "7" "107329601" "107329601" "subst" "0" "00006" "SLC26A4_000296" "g.107329601A>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107689156A>T" "" "pathogenic (recessive)" "" "0001044936" "1" "90" "7" "107330593" "107330593" "subst" "4.06779E-6" "00006" "SLC26A4_000028" "g.107330593A>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107690148A>T" "" "pathogenic (recessive)" "" "0001044937" "1" "90" "7" "107330645" "107330645" "subst" "0.000105876" "00006" "SLC26A4_000024" "g.107330645G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107690200G>A" "" "pathogenic (recessive)" "" "0001044938" "1" "90" "7" "107336429" "107336429" "subst" "2.03102E-5" "00006" "SLC26A4_000181" "g.107336429G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107695984G>A" "" "pathogenic (recessive)" "" "0001044939" "1" "90" "7" "107336460" "107336460" "del" "0" "00006" "SLC26A4_000026" "g.107336460del" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "1520delT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107696015del" "" "pathogenic (recessive)" "" "0001044940" "1" "90" "7" "107336490" "107336490" "subst" "0" "00006" "SLC26A4_000288" "g.107336490T>C" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107696045T>C" "" "pathogenic (recessive)" "" "0001044941" "1" "90" "7" "107338557" "107338557" "subst" "2.03417E-5" "00006" "SLC26A4_000299" "g.107338557G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107698112G>A" "" "pathogenic (recessive)" "" "0001044942" "1" "90" "7" "107340526" "107340526" "subst" "4.0705E-6" "00006" "SLC26A4_000112" "g.107340526A>G" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107700081A>G" "" "pathogenic (recessive)" "" "0001044943" "1" "90" "7" "107340571" "107340571" "subst" "4.0706E-6" "00006" "SLC26A4_000300" "g.107340571C>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107700126C>A" "" "pathogenic (recessive)" "" "0001044944" "1" "90" "7" "107340606" "107340607" "ins" "0" "00006" "SLC26A4_000301" "g.107340606_107340607insA" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107700161_107700162insA" "" "pathogenic (recessive)" "" "0001044945" "1" "90" "7" "107340621" "107340621" "subst" "0" "00006" "SLC26A4_000302" "g.107340621G>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107700176G>A" "" "pathogenic (recessive)" "" "0001044946" "1" "90" "7" "107341624" "107341624" "subst" "0" "00006" "SLC26A4_000303" "g.107341624C>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107701179C>T" "" "pathogenic (recessive)" "" "0001044947" "1" "90" "7" "107342297" "107342297" "subst" "0" "00006" "SLC26A4_000035" "g.107342297C>A" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107701852C>A" "" "pathogenic (recessive)" "" "0001044948" "1" "90" "7" "107342443" "107342443" "subst" "8.13094E-6" "00006" "SLC26A4_000029" "g.107342443G>C" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107701998G>C" "" "pathogenic (recessive)" "" "0001044949" "1" "90" "7" "107344827" "107344827" "subst" "1.3773E-5" "00006" "SLC26A4_000057" "g.107344827C>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107704382C>T" "" "pathogenic (recessive)" "" "0001044950" "1" "90" "7" "107344830" "107344830" "subst" "0" "00006" "SLC26A4_000304" "g.107344830G>C" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107704385G>C" "" "pathogenic (recessive)" "" "0001044951" "1" "90" "7" "107350516" "107350516" "subst" "0" "00006" "SLC26A4_000305" "g.107350516C>G" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107710071C>G" "" "pathogenic (recessive)" "" "0001044952" "1" "90" "7" "107350571" "107350571" "subst" "5.28382E-5" "00006" "SLC26A4_000063" "g.107350571C>T" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.107710126C>T" "" "pathogenic (recessive)" "" "0001044953" "1" "90" "7" "107300016" "107307681" "del" "0" "00006" "SLC26A4_000285" "g.107300016_107307681del" "" "{PMID:Lin 2019:30268946}, {PMID:Wu 2019:31581539}" "" "g.-1066C_6602Adel" "" "Germline" "" "" "0" "" "" "g.107659571_107667236del" "" "pathogenic (recessive)" "" "0001044954" "1" "90" "7" "107323898" "107323898" "subst" "0.000321337" "00006" "SLC26A4_000022" "g.107323898A>G" "44/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.107683453A>G" "" "pathogenic (recessive)" "" "0001044955" "1" "90" "7" "107323797" "107323797" "dup" "0" "00006" "SLC26A4_000061" "g.107323797dup" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "916_917insG" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.107683352dup" "" "pathogenic (recessive)" "" "0001044956" "1" "90" "7" "107323955" "107323958" "delins" "0" "00006" "SLC26A4_000295" "g.107323955_107323958delinsTTAAATTA" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "974_977delCTGGinsTTAAATTA" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.107683510_107683513delinsTTAAATTA" "" "pathogenic (recessive)" "" "0001045013" "1" "90" "7" "107323898" "107323898" "subst" "0" "00006" "SLC26A4_000286" "g.107323898A>C" "" "{PMID:Lin 2019:30268946}" "" "" "ACMG PVS1, PS3, PM2, PM3, PP3, PP4, PP5; variant on same allele as deletion" "Germline" "yes" "" "0" "" "" "g.107683453A>C" "" "pathogenic (recessive)" "" "0001045014" "2" "70" "7" "107350577" "107350577" "subst" "0.000117855" "00006" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:Lin 2019:30268946}" "" "" "ACMG PM2, PM3, PP3, PP4, PP5" "Germline" "yes" "" "0" "" "" "g.107710132A>G" "" "likely pathogenic (recessive)" "" "0001045016" "1" "70" "7" "107303817" "107303817" "subst" "0" "00006" "SLC26A4_000287" "g.107303817A>G" "" "{PMID:Lin 2019:30268946}" "" "" "ACMG PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.107663372A>G" "" "likely pathogenic (recessive)" "ACMG" "0001045018" "0" "90" "7" "107323898" "107323898" "subst" "0.000321337" "00006" "SLC26A4_000022" "g.107323898A>G" "" "{PMID:Lin 2019:30268946}" "" "" "ACMG PVS1, PS3, PM2, PM3, PP3, PP4, PP5" "Germline" "" "" "0" "" "" "g.107683453A>G" "" "pathogenic (recessive)" "ACMG" "0001045019" "1" "70" "7" "107336490" "107336490" "subst" "0" "00006" "SLC26A4_000288" "g.107336490T>C" "" "{PMID:Lin 2019:30268946}" "" "" "ACMG PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.107696045T>C" "" "likely pathogenic (recessive)" "ACMG" "0001045020" "0" "70" "7" "107350577" "107350577" "subst" "0.000117855" "00006" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:Lin 2019:30268946}" "" "" "ACMG PM2, PM3, PP3, PP4, PP5" "Germline" "" "" "0" "" "" "g.107710132A>G" "" "likely pathogenic (recessive)" "ACMG" "0001045024" "10" "70" "7" "107350577" "107350577" "subst" "0.000117855" "00006" "SLC26A4_000030" "g.107350577A>G" "" "{PMID:Lin 2019:30268946}" "" "" "ACMG PM2, PM3, PP3, PP4, PP5" "Germline" "" "" "0" "" "" "g.107710132A>G" "" "likely pathogenic (recessive)" "ACMG" "0001045025" "21" "90" "7" "107323898" "107323898" "subst" "0.000321337" "00006" "SLC26A4_000022" "g.107323898A>G" "" "{PMID:Lin 2019:30268946}" "" "" "ACMG PVS1, PS3, PM2, PM3, PP3, PP4, PP5" "Germline" "" "" "0" "" "" "g.107683453A>G" "" "pathogenic (recessive)" "ACMG" "0001045525" "0" "70" "7" "107303869" "107303869" "subst" "0" "04656" "SLC26A4_000306" "g.107303869C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.107663424C>A" "" "likely pathogenic" "ACMG" "0001045526" "0" "70" "7" "107303878" "107303878" "subst" "8.12532E-6" "04656" "SLC26A4_000307" "g.107303878A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.107663433A>C" "" "likely pathogenic" "ACMG" "0001045527" "3" "70" "7" "107315406" "107315406" "subst" "0" "04656" "SLC26A4_000308" "g.107315406T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.107674961T>A" "" "likely pathogenic" "ACMG" "0001045529" "3" "70" "7" "107336485" "107336485" "subst" "0" "04656" "SLC26A4_000309" "g.107336485G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.107696040G>A" "" "pathogenic (recessive)" "ACMG" "0001045530" "3" "70" "7" "107342496" "107342496" "del" "0" "04656" "SLC26A4_000310" "g.107342496del" "" "" "" "2028delG" "" "Germline" "yes" "" "0" "" "" "g.107702051del" "" "pathogenic (recessive)" "ACMG" "0001049387" "3" "90" "7" "107303746" "107303746" "subst" "1.21817E-5" "04656" "SLC26A4_000271" "g.107303746C>A" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.107663301C>A" "VCV001075541.14" "pathogenic (recessive)" "" "0001049388" "3" "90" "7" "107303845" "107303845" "subst" "2.03051E-5" "04656" "SLC26A4_000312" "g.107303845C>T" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.107663400C>T" "VCV000188842.16" "pathogenic (recessive)" "" "0001049389" "3" "90" "7" "107315505" "107315505" "subst" "0.000207113" "04656" "SLC26A4_000161" "g.107315505T>A" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PM3, PP1, PS3, PM1, PP2, PM2, PP3" "Germline" "" "" "0" "" "" "g.107675060T>A" "VCV000043566.51" "pathogenic (recessive)" "" "0001049390" "3" "70" "7" "107334921" "107334921" "subst" "7.73975E-5" "04656" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PS3, PM2, PM1, PP2, PP3" "Germline" "" "" "0" "" "" "g.107694476A>G" "VCV000550505.14" "likely pathogenic (recessive)" "" "0001049391" "3" "70" "7" "107334921" "107334921" "subst" "7.73975E-5" "04656" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PS3, PM2, PM1, PP2, PP3" "Germline" "" "" "0" "" "" "g.107694476A>G" "VCV000550505.14" "likely pathogenic (recessive)" "" "0001049392" "3" "70" "7" "107334921" "107334921" "subst" "7.73975E-5" "04656" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PS3, PM2, PM1, PP2, PP3" "Germline" "" "" "0" "" "" "g.107694476A>G" "VCV000550505.14" "likely pathogenic (recessive)" "" "0001049393" "3" "70" "7" "107334921" "107334921" "subst" "7.73975E-5" "04656" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PS3, PM2, PM1, PP2, PP3" "Germline" "" "" "0" "" "" "g.107694476A>G" "VCV000550505.14" "likely pathogenic (recessive)" "" "0001049394" "3" "70" "7" "107334921" "107334921" "subst" "7.73975E-5" "04656" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PS3, PM2, PM1, PP2, PP3" "Germline" "" "" "0" "" "" "g.107694476A>G" "VCV000550505.14" "likely pathogenic (recessive)" "" "0001049395" "3" "70" "7" "107334921" "107334921" "subst" "7.73975E-5" "04656" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PS3, PM2, PM1, PP2, PP3" "Germline" "" "" "0" "" "" "g.107694476A>G" "VCV000550505.14" "likely pathogenic (recessive)" "" "0001049396" "3" "70" "7" "107334921" "107334921" "subst" "7.73975E-5" "04656" "SLC26A4_000278" "g.107334921A>G" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PS3, PM2, PM1, PP2, PP3" "Germline" "" "" "0" "" "" "g.107694476A>G" "VCV000550505.14" "likely pathogenic (recessive)" "" "0001049397" "3" "90" "7" "107338528" "107338528" "subst" "0" "04656" "SLC26A4_000313" "g.107338528T>C" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PM3, PM1 PP2, PM2, PM5, PP3" "Germline" "" "" "0" "" "" "g.107698083T>C" "VCV001687453.1" "pathogenic (recessive)" "" "0001052787" "0" "50" "7" "107336454" "107336454" "subst" "0" "02327" "SLC26A4_000143" "g.107336454G>T" "" "" "" "SLC26A4(NM_000441.1):c.1514G>T (p.G505V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052788" "0" "50" "7" "107350570" "107350570" "subst" "0" "02327" "SLC26A4_000314" "g.107350570A>G" "" "" "" "" "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 SLC26A4 ## Count = 956 "{{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}}" "0000089806" "00019237" "90" "1198" "0" "1198" "0" "c.1198del" "r.(?)" "p.(Cys400Valfs*32)" "10" "0000089807" "00019237" "90" "1198" "0" "1198" "0" "c.1198del" "r.(?)" "p.(Cys400Valfs*32)" "10" "0000089961" "00019237" "90" "1334" "0" "1334" "0" "c.1334T>G" "r.(?)" "p.(Leu445Trp)" "11" "0000089962" "00019237" "90" "2153" "0" "2153" "0" "c.2153T>C" "r.(?)" "p.(Phe718Ser)" "19" "0000091248" "00019237" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Leu117Phe)" "4" "0000091250" "00019237" "90" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Thr193Ile)" "5" "0000091251" "00019237" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Leu117Phe)" "4" "0000091252" "00019237" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Leu117Phe)" "4" "0000129180" "00019237" "70" "505" "0" "505" "0" "c.505del" "r.(?)" "p.(Thr169Leufs*3)" "" "0000129181" "00019237" "70" "1334" "0" "1334" "0" "c.1334T>G" "r.(?)" "p.(Leu445Trp)" "11" "0000129194" "00019237" "50" "1246" "0" "1246" "0" "c.1246A>C" "r.(?)" "p.(Thr416Pro)" "10" "0000129881" "00019237" "99" "85" "0" "85" "0" "c.85G>C" "r.(85g>c)" "p.(Glu29Gln)" "2" "0000129894" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(0?)" "p.(0?)" "1" "0000129914" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(0?)" "p.(0?)" "1" "0000129915" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(0?)" "p.(0?)" "1" "0000129916" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(0?)" "p.(0?)" "1" "0000129917" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(0?)" "p.(0?)" "1" "0000129918" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(0?)" "p.(0?)" "1" "0000129919" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(0?)" "p.(0?)" "1" "0000129920" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(0?)" "p.(0?)" "1" "0000129921" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(0?)" "p.(0?)" "1" "0000129922" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(0?)" "p.(0?)" "1" "0000140549" "00019237" "70" "925" "0" "931" "0" "c.925_931del" "r.(?)" "p.(Ile309Leufs*33)" "8" "0000140553" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl" "p.?" "7i" "0000246604" "00019237" "10" "1438" "-14" "1438" "-14" "c.1438-14A>G" "r.(=)" "p.(=)" "" "0000254554" "00019237" "30" "1363" "0" "1363" "0" "c.1363A>T" "r.(?)" "p.(Ile455Phe)" "" "0000254798" "00019237" "30" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Asn322Asp)" "" "0000295895" "00019237" "30" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Phe354Ser)" "" "0000295896" "00019237" "90" "1334" "0" "1334" "0" "c.1334T>G" "r.(?)" "p.(Leu445Trp)" "" "0000295897" "00019237" "10" "1545" "-5" "1545" "-5" "c.1545-5T>G" "r.spl?" "p.?" "" "0000295898" "00019237" "10" "1545" "-7" "1545" "-7" "c.1545-7del" "r.(=)" "p.(=)" "" "0000295899" "00019237" "30" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Glu540Lys)" "" "0000295900" "00019237" "10" "1708" "-18" "1708" "-18" "c.1708-18T>A" "r.(=)" "p.(=)" "" "0000295901" "00019237" "10" "1790" "0" "1790" "0" "c.1790T>C" "r.(?)" "p.(Leu597Ser)" "" "0000295902" "00019237" "10" "1826" "0" "1826" "0" "c.1826T>G" "r.(?)" "p.(Val609Gly)" "" "0000295903" "00019237" "10" "2130" "0" "2130" "0" "c.2130C>T" "r.(?)" "p.(Asp710=)" "" "0000295904" "00019237" "30" "2218" "0" "2218" "0" "c.2218G>A" "r.(?)" "p.(Gly740Ser)" "" "0000298275" "00019237" "50" "2235" "0" "2235" "0" "c.2235G>A" "r.(?)" "p.(Thr745=)" "" "0000308342" "00019237" "50" "-103" "0" "-103" "0" "c.-103T>C" "r.(?)" "p.(=)" "" "0000308343" "00019237" "10" "-66" "0" "-66" "0" "c.-66C>G" "r.(?)" "p.(=)" "" "0000308344" "00019237" "90" "1001" "1" "1001" "1" "c.1001+1G>A" "r.spl?" "p.?" "" "0000308345" "00019237" "30" "1248" "0" "1248" "0" "c.1248T>A" "r.(?)" "p.(Thr416=)" "" "0000308346" "00019237" "30" "1356" "0" "1356" "0" "c.1356T>C" "r.(?)" "p.(Ala452=)" "" "0000308347" "00019237" "90" "142" "0" "142" "0" "c.142G>T" "r.(?)" "p.(Glu48Ter)" "" "0000308348" "00019237" "10" "1488" "0" "1488" "0" "c.1488C>T" "r.(?)" "p.(Leu496=)" "" "0000308349" "00019237" "50" "1514" "0" "1514" "0" "c.1514G>T" "r.(?)" "p.(Gly505Val)" "" "0000308350" "00019237" "30" "1708" "-18" "1708" "-18" "c.1708-18T>A" "r.(=)" "p.(=)" "" "0000308351" "00019237" "10" "1790" "0" "1790" "0" "c.1790T>C" "r.(?)" "p.(Leu597Ser)" "" "0000308352" "00019237" "10" "1826" "0" "1826" "0" "c.1826T>G" "r.(?)" "p.(Val609Gly)" "" "0000308353" "00019237" "10" "2130" "0" "2130" "0" "c.2130C>T" "r.(?)" "p.(Asp710=)" "" "0000308354" "00019237" "70" "2211" "0" "2211" "0" "c.2211G>C" "r.(?)" "p.(Glu737Asp)" "" "0000308355" "00019237" "10" "2218" "0" "2218" "0" "c.2218G>A" "r.(?)" "p.(Gly740Ser)" "" "0000308356" "00019237" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000308357" "00019237" "10" "416" "-13" "416" "-13" "c.416-13T>C" "r.(=)" "p.(=)" "" "0000336958" "00019237" "50" "-109" "0" "-109" "0" "c.-109G>A" "r.(?)" "p.(=)" "" "0000336959" "00019237" "30" "601" "-17" "601" "-17" "c.601-17C>T" "r.(=)" "p.(=)" "" "0000336960" "00019237" "90" "1341" "1" "1341" "1" "c.1341+1G>C" "r.spl?" "p.?" "" "0000336961" "00019237" "90" "1342" "-2" "1342" "-2" "c.1342-2A>C" "r.spl?" "p.?" "" "0000336962" "00019237" "10" "1545" "-5" "1545" "-5" "c.1545-5T>G" "r.spl?" "p.?" "" "0000336963" "00019237" "10" "1708" "-18" "1708" "-18" "c.1708-18T>A" "r.(=)" "p.(=)" "" "0000342131" "00019237" "90" "554" "0" "554" "0" "c.554G>C" "r.(?)" "p.(Arg185Thr)" "" "0000342844" "00019237" "70" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Arg409Cys)" "" "0000343744" "00019237" "70" "1174" "0" "1174" "0" "c.1174A>T" "r.(?)" "p.(Asn392Tyr)" "" "0000344383" "00019237" "90" "1198" "0" "1198" "0" "c.1198del" "r.(?)" "p.(Cys400ValfsTer32)" "" "0000344427" "00019237" "70" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Cys565Tyr)" "" "0000344806" "00019237" "90" "1147" "0" "1147" "0" "c.1147del" "r.(?)" "p.(Gln383ArgfsTer49)" "" "0000344885" "00019237" "90" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Gln514Ter)" "" "0000345341" "00019237" "90" "85" "0" "85" "0" "c.85G>C" "r.(?)" "p.(Glu29Gln)" "" "0000345390" "00019237" "90" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Glu384Gly)" "" "0000345714" "00019237" "90" "416" "0" "416" "0" "c.416G>C" "r.(?)" "p.(Gly139Ala)" "" "0000345857" "00019237" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Gly209Val)" "" "0000346002" "00019237" "70" "1001" "0" "1001" "0" "c.1001G>T" "r.(?)" "p.(Gly334Val)" "" "0000346118" "00019237" "90" "1489" "0" "1489" "0" "c.1489G>A" "r.(?)" "p.(Gly497Ser)" "" "0000346180" "00019237" "50" "1784" "0" "1784" "0" "c.1784G>A" "r.(?)" "p.(Gly595Glu)" "" "0000346216" "00019237" "70" "2015" "0" "2015" "0" "c.2015G>A" "r.(?)" "p.(Gly672Glu)" "" "0000346671" "00019237" "30" "898" "0" "898" "0" "c.898A>C" "r.(?)" "p.(Ile300Leu)" "" "0000347016" "00019237" "90" "707" "0" "707" "0" "c.707T>C" "r.(?)" "p.(Leu236Pro)" "" "0000347175" "00019237" "90" "1334" "0" "1334" "0" "c.1334T>G" "r.(?)" "p.(Leu445Trp)" "" "0000347247" "00019237" "50" "1790" "0" "1790" "0" "c.1790T>C" "r.(?)" "p.(Leu597Ser)" "" "0000347273" "00019237" "50" "2003" "0" "2003" "0" "c.2003T>C" "r.(?)" "p.(Leu668Pro)" "" "0000347681" "00019237" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000348032" "00019237" "30" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Phe354Ser)" "" "0000348086" "00019237" "70" "2048" "0" "2048" "0" "c.2048T>C" "r.(?)" "p.(Phe683Ser)" "" "0000348975" "00019237" "70" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Ser391Asn)" "" "0000348978" "00019237" "90" "1184" "0" "1184" "0" "c.1184C>A" "r.(?)" "p.(Ser395Ter)" "" "0000349020" "00019237" "70" "1343" "0" "1343" "0" "c.1343C>T" "r.(?)" "p.(Ser448Leu)" "" "0000349500" "00019237" "90" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "" "0000349504" "00019237" "90" "1246" "0" "1246" "0" "c.1246A>C" "r.(?)" "p.(Thr416Pro)" "" "0000350127" "00019237" "70" "1589" "0" "1589" "0" "c.1589A>C" "r.(?)" "p.(Tyr530Ser)" "" "0000350287" "00019237" "90" "412" "0" "412" "0" "c.412G>T" "r.(?)" "p.(Val138Phe)" "" "0000350414" "00019237" "70" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000350526" "00019237" "50" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Val412Ile)" "" "0000350605" "00019237" "10" "1826" "0" "1826" "0" "c.1826T>G" "r.(?)" "p.(Val609Gly)" "" "0000350722" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "" "0000350828" "00019237" "90" "1001" "1" "1001" "1" "c.1001+1G>A" "r.spl?" "p.?" "" "0000350829" "00019237" "10" "1002" "-9" "1002" "-9" "c.1002-9A>C" "r.(=)" "p.(=)" "" "0000368247" "00019237" "70" "1489" "0" "1489" "0" "c.1489G>A" "r.(?)" "p.(Gly497Ser)" "13" "0000375104" "00019237" "99" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Val151Leufs*3)" "5" "0000375105" "00019237" "99" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Val151Leufs*3)" "5" "0000375106" "00019237" "99" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Val151Leufs*3)" "5" "0000375107" "00019237" "99" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Val151Leufs*3)" "5" "0000375108" "00019237" "99" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Val151Leufs*3)" "5" "0000375109" "00019237" "99" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Val151Leufs*3)" "5" "0000375110" "00019237" "99" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Val151Leufs*3)" "5" "0000375111" "00019237" "99" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Val151Leufs*3)" "5" "0000375112" "00019237" "99" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Val151Leufs*3)" "5" "0000375113" "00019237" "99" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Val151Leufs*3)" "5" "0000375114" "00019237" "99" "863" "0" "863" "0" "c.863dup" "r.(?)" "p.(Leu288Phefs*3)" "7" "0000375115" "00019237" "99" "863" "0" "863" "0" "c.863dup" "r.(?)" "p.(Leu288Phefs*3)" "7" "0000375116" "00019237" "99" "863" "0" "863" "0" "c.863dup" "r.(?)" "p.(Leu288Phefs*3)" "7" "0000375117" "00019237" "99" "863" "0" "863" "0" "c.863dup" "r.(?)" "p.(Leu288Phefs*3)" "7" "0000375118" "00019237" "99" "863" "0" "863" "0" "c.863dup" "r.(?)" "p.(Leu288Phefs*3)" "7" "0000375119" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375120" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375121" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375122" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375123" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375124" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375125" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375126" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375127" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375128" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375129" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375130" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375131" "00019237" "99" "882" "0" "883" "0" "c.882_883del" "r.(?)" "p.(His294Glnfs*35)" "7" "0000375132" "00019237" "99" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ala360Val)" "9" "0000375133" "00019237" "99" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ala360Val)" "9" "0000375134" "00019237" "99" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ala360Val)" "9" "0000375135" "00019237" "99" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ala360Val)" "9" "0000375136" "00019237" "99" "1263" "1" "1263" "1" "c.1263+1G>A" "r.spl?" "p.?" "10i" "0000375137" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375138" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375139" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375140" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375141" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375142" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375143" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375144" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375145" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375146" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375147" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375148" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375149" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375150" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375151" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375152" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375153" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375154" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375155" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375156" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375157" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375158" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375159" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375160" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375161" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375162" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375163" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375164" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375165" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375166" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375167" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375168" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375169" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375170" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375171" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375172" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375173" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375174" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375175" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375176" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375177" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375178" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375179" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375180" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375181" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375182" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375183" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375184" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375185" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375186" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375187" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375188" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375189" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375190" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375191" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375192" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375193" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375194" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375195" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375196" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375197" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375198" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375199" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375200" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375201" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375202" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375203" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375204" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375205" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375206" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375207" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375208" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375209" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375210" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375211" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375212" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375213" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375214" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375215" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375216" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375217" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375218" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375219" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375220" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375221" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375222" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375223" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375224" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375225" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375226" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375227" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375228" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375229" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375230" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375231" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375232" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375233" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375234" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375235" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375236" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375237" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375238" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375239" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375240" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375241" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375242" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375243" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375244" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375245" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375246" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375247" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375248" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375249" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375250" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375251" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375252" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375253" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375254" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375255" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375256" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375257" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375258" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375259" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375260" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375261" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375262" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375263" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375264" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375265" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375266" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375267" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375268" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375269" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.919_1001del" "p.Thr307Valfs*4" "7i" "0000375270" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375271" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375272" "00019237" "99" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "7i" "0000375273" "00019237" "77" "1286" "0" "1286" "0" "c.1286C>A" "r.(?)" "p.(Ala429Glu)" "11" "0000375274" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375275" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375276" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375277" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375278" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375279" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375280" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375281" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375282" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375283" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375284" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375285" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375286" "00019237" "99" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "10" "0000375287" "00019237" "99" "1520" "0" "1520" "0" "c.1520del" "r.(?)" "p.(Leu507*)" "13" "0000375288" "00019237" "99" "1520" "0" "1520" "0" "c.1520del" "r.(?)" "p.(Leu507*)" "13" "0000375289" "00019237" "99" "1343" "0" "1343" "0" "c.1343C>A" "r.(?)" "p.(Ser448*)" "12" "0000375290" "00019237" "99" "1343" "0" "1343" "0" "c.1343C>A" "r.(?)" "p.(Ser448*)" "12" "0000375291" "00019237" "99" "1174" "0" "1174" "0" "c.1174A>T" "r.(?)" "p.(Asn392Tyr)" "10" "0000375292" "00019237" "99" "1174" "0" "1174" "0" "c.1174A>T" "r.(?)" "p.(Asn392Tyr)" "10" "0000375293" "00019237" "99" "1174" "0" "1174" "0" "c.1174A>T" "r.(?)" "p.(Asn392Tyr)" "10" "0000375294" "00019237" "99" "1174" "0" "1174" "0" "c.1174A>T" "r.(?)" "p.(Asn392Tyr)" "10" "0000375295" "00019237" "99" "1174" "0" "1174" "0" "c.1174A>T" "r.(?)" "p.(Asn392Tyr)" "10" "0000375296" "00019237" "99" "1174" "0" "1174" "0" "c.1174A>T" "r.(?)" "p.(Asn392Tyr)" "10" "0000375297" "00019237" "99" "1174" "0" "1174" "0" "c.1174A>T" "r.(?)" "p.(Asn392Tyr)" "10" "0000375298" "00019237" "99" "1975" "0" "1975" "0" "c.1975G>C" "r.(?)" "p.(Val659Leu)" "17" "0000375299" "00019237" "99" "1975" "0" "1975" "0" "c.1975G>C" "r.(?)" "p.(Val659Leu)" "17" "0000375300" "00019237" "99" "1975" "0" "1975" "0" "c.1975G>C" "r.(?)" "p.(Val659Leu)" "17" "0000375301" "00019237" "99" "1975" "0" "1975" "0" "c.1975G>C" "r.(?)" "p.(Val659Leu)" "17" "0000375302" "00019237" "99" "1975" "0" "1975" "0" "c.1975G>C" "r.(?)" "p.(Val659Leu)" "17" "0000375303" "00019237" "99" "1975" "0" "1975" "0" "c.1975G>C" "r.(?)" "p.(Val659Leu)" "17" "0000375304" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375305" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375306" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375307" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375308" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375309" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375310" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375311" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375312" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375313" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375314" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375315" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375316" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375317" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375318" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375319" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375320" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375321" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375322" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375323" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" 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"p.(His723Arg)" "19" "0000375384" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375385" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375386" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375387" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375388" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375389" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375390" "00019237" "99" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "19" "0000375391" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375392" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375393" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375394" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375395" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375396" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375397" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375398" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375399" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375400" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375401" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375402" "00019237" "99" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "10" "0000375403" "00019237" "99" "1079" "0" "1079" "0" "c.1079C>T" "r.(?)" "p.(Ala360Val)" "9" "0000375404" "00019237" "99" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Leu676Gln)" "17" "0000375405" "00019237" "99" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Leu676Gln)" "17" "0000375406" "00019237" "99" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Leu676Gln)" "17" "0000375407" "00019237" "99" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Leu676Gln)" "17" "0000375408" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375409" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375410" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375411" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375412" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375413" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375414" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375415" "00019237" "59" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375416" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375417" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375418" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375419" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375420" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375421" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375422" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375423" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375424" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375425" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375426" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375427" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375428" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375429" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375430" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375431" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375432" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375433" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375434" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375435" "00019237" "99" "1829" "0" "1829" "0" "c.1829C>A" "r.(?)" "p.(Ser610*)" "17" "0000375436" "00019237" "99" "1829" "0" "1829" "0" "c.1829C>A" "r.(?)" 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"p.(Leu597Ser)" "16" "0000375595" "00019237" "35" "1790" "0" "1790" "0" "c.1790T>C" "r.(?)" "p.(Leu597Ser)" "16" "0000375596" "00019237" "35" "1790" "0" "1790" "0" "c.1790T>C" "r.(?)" "p.(Leu597Ser)" "16" "0000375597" "00019237" "35" "1790" "0" "1790" "0" "c.1790T>C" "r.(?)" "p.(Leu597Ser)" "16" "0000375598" "00019237" "35" "1790" "0" "1790" "0" "c.1790T>C" "r.(?)" "p.(Leu597Ser)" "16" "0000375599" "00019237" "35" "1790" "0" "1790" "0" "c.1790T>C" "r.(?)" "p.(Leu597Ser)" "16" "0000375600" "00019237" "35" "1790" "0" "1790" "0" "c.1790T>C" "r.(?)" "p.(Leu597Ser)" "16" "0000375601" "00019237" "35" "1790" "0" "1790" "0" "c.1790T>C" "r.(?)" "p.(Leu597Ser)" "16" "0000375602" "00019237" "99" "917" "0" "917" "0" "c.917del" "r.(?)" "p.(Val306Glyfs*3)" "7" "0000375603" "00019237" "99" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ala372Val)" "9" "0000375604" "00019237" "99" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ala372Val)" "9" "0000375605" "00019237" "99" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ala372Val)" "9" "0000375606" "00019237" "99" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ala372Val)" "9" "0000375607" "00019237" "99" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ala372Val)" "9" "0000375608" "00019237" "99" "2110" "0" "2111" "0" "c.2110_2111insGCTGC" "r.(?)" "p.(Glu704Glyfs*19)" "19" "0000375609" "00019237" "99" "2110" "0" "2111" "0" "c.2110_2111insGCTGC" "r.(?)" "p.(Glu704Glyfs*19)" "19" "0000375610" "00019237" "99" "1105" "0" "1105" "0" "c.1105A>G" "r.(?)" "p.(Lys369Glu)" "9" "0000375611" "00019237" "99" "1651" "0" "1651" "0" "c.1651dup" "r.(?)" "p.(Ser551Phefs*13)" "15" "0000375612" "00019237" "99" "1829" "0" "1829" "0" "c.1829C>A" "r.(?)" "p.(Ser610*)" "17" "0000375613" "00019237" "75" "1970" "0" "1970" "0" "c.1970G>A" "r.(?)" "p.(Ser657Asn)" "17" "0000375614" "00019237" "75" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Pro123Ser)" "4" "0000375615" "00019237" "77" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Ser666Phe)" "17" "0000375616" "00019237" "77" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Ser666Phe)" "17" "0000375617" "00019237" "75" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Ser666Phe)" "17" "0000375618" "00019237" "75" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Cys565Tyr)" "15" "0000375619" "00019237" "99" "601" "-1" "601" "-1" "c.601-1G>A" "r.spl?" "p.?" "5i" "0000375620" "00019237" "99" "322" "0" "322" "0" "c.322del" "r.(?)" "p.(Leu108*)" "4" "0000375621" "00019237" "99" "322" "0" "322" "0" "c.322del" "r.(?)" "p.(Leu108*)" "4" "0000375622" "00019237" "75" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Met147Val)" "5" "0000375623" "00019237" "99" "1707" "5" "1707" "5" "c.1707+5G>A" "r.spl?" "p.?" "15i" "0000375624" "00019237" "75" "1743" "0" "1743" "0" "c.1743G>C" "r.(?)" "p.(Arg581Ser)" "16" "0000375625" "00019237" "99" "1562" "0" "1572" "0" "c.1562_1572dup" "r.(?)" "p.(Pro525Leufs*25)" "14" "0000375626" "00019237" "99" "1562" "0" "1572" "0" "c.1562_1572dup" "r.(?)" "p.(Pro525Leufs*25)" "14" "0000375627" "00019237" "99" "1562" "0" "1572" "0" "c.1562_1572dup" "r.(?)" "p.(Pro525Leufs*25)" "14" "0000375628" "00019237" "99" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Glu384Gly)" "10" "0000375629" "00019237" "99" "1151" "0" "1151" "0" "c.1151A>G" "r.1151a>g" "p.Glu384Gly" "10" "0000375630" "00019237" "99" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Glu384Gly)" "10" "0000375631" "00019237" "99" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Glu384Gly)" "10" "0000375632" "00019237" "99" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Glu384Gly)" "10" "0000375633" "00019237" "99" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Glu384Gly)" "10" "0000375634" "00019237" "99" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Glu384Gly)" "10" "0000375635" "00019237" "99" "1588" "0" "1588" "0" "c.1588T>C" "r.(?)" "p.(Tyr530His)" "14" "0000375636" "00019237" "99" "1588" "0" "1588" "0" "c.1588T>C" "r.(?)" "p.(Tyr530His)" "14" "0000375637" "00019237" "99" "1198" "0" "1198" "0" "c.1198del" "r.(?)" "p.(Cys400Valfs*32)" "10" "0000375638" "00019237" "75" "1262" "0" "1262" "0" "c.1262A>C" "r.(?)" "p.(Gln421Pro)" "11" "0000375639" "00019237" "99" "2127" "0" "2127" "0" "c.2127del" "r.(?)" "p.(Phe709Leufs*12)" "19" "0000375640" "00019237" "99" "2127" "0" "2127" "0" "c.2127del" "r.(?)" "p.(Phe709Leufs*12)" "19" "0000375641" "00019237" "99" "2089" "1" "2089" "1" "c.2089+1G>A" "r.spl?" "p.?" "18i" "0000375642" "00019237" "75" "84" "0" "84" "0" "c.84C>A" "r.(?)" "p.(Ser28Arg)" "2" "0000375643" "00019237" "99" "1615" "-2" "1615" "-2" "c.1615-2A>G" "r.spl?" "p.?" "14i" "0000375644" "00019237" "99" "1341" "1" "1341" "1" "c.1341+1G>C" "r.spl?" "p.?" "11i" "0000375645" "00019237" "55" "1341" "1" "1341" "1" "c.1341+1G>C" "r.spl?" "p.?" "11i" "0000375646" "00019237" "99" "2174" "0" "2177" "0" "c.2174_2177dup" "r.2174_2177dup" "p.Leu727Tyrfs*28" "19" "0000375647" "00019237" "99" "1165" "0" "1165" "0" "c.1165G>C" "r.(?)" "p.(Gly389Arg)" "10" "0000375648" "00019237" "99" "2171" "0" "2171" "0" "c.2171A>G" "r.(?)" "p.(Asp724Gly)" "19" "0000375649" "00019237" "99" "2171" "0" "2171" "0" "c.2171A>G" "r.(?)" "p.(Asp724Gly)" "19" "0000375650" "00019237" "99" "2171" "0" "2171" "0" "c.2171A>G" "r.(?)" "p.(Asp724Gly)" "19" "0000375651" "00019237" "11" "970" "0" "970" "0" "c.970A>T" "r.(?)" "p.(Asn324Tyr)" "8" "0000375652" "00019237" "75" "1987" "0" "1987" "0" "c.1987G>A" "r.(?)" "p.(Gly663Arg)" "17" "0000375653" "00019237" "99" "398" "0" "398" "0" "c.398C>A" "r.(?)" "p.(Ser133*)" "4" "0000375654" "00019237" "35" "2324" "0" "2324" "0" "c.2324T>C" "r.(?)" "p.(Met775Thr)" "21" "0000375655" "00019237" "55" "2324" "0" "2324" "0" "c.2324T>C" "r.(?)" "p.(Met775Thr)" "21" "0000375656" "00019237" "99" "1340" "0" "1343" "0" "c.1340_1343dup" "r.(?)" "p.(Leu450Glyfs*19)" "11" "0000375657" "00019237" "99" "1340" "0" "1343" "0" "c.1340_1343dup" "r.(?)" "p.(Leu450Glyfs*19)" "11" "0000375658" "00019237" "99" "1340" "0" "1343" "0" "c.1340_1343dup" "r.(?)" "p.(Leu450Glyfs*19)" "11" "0000375659" "00019237" "11" "-66" "0" "-66" "0" "c.-66C>G" "r.(=)" "p.(=)" "1" "0000375660" "00019237" "99" "1003" "0" "1003" "0" "c.1003T>C" "r.(?)" "p.(Phe335Leu)" "9" "0000375661" "00019237" "99" "1003" "0" "1003" "0" "c.1003T>C" "r.(?)" "p.(Phe335Leu)" "9" "0000375662" "00019237" "99" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Val402Met)" "10" "0000375663" "00019237" "99" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Val402Met)" "10" "0000375664" "00019237" "99" "1541" "0" "1541" "0" "c.1541A>G" "r.(?)" "p.(Gln514Arg)" "13" "0000375665" "00019237" "99" "1541" "0" "1541" "0" "c.1541A>G" "r.(?)" "p.(Gln514Arg)" "13" "0000375666" "00019237" "55" "-60" "0" "-60" "0" "c.-60A>G" "r.(?)" "p.(=)" "1" "0000375667" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(?)" "p.(=)" "1" "0000375668" "00019237" "99" "-103" "0" "-103" "0" "c.-103T>C" "r.(?)" "p.(=)" "1" "0000375669" "00019237" "99" "2106" "0" "2110" "0" "c.2106_2110dup" "r.(?)" "p.(Glu704Glyfs*19)" "19" "0000375670" "00019237" "99" "2106" "0" "2110" "0" "c.2106_2110dup" "r.(?)" "p.(Glu704Glyfs*19)" "19" "0000375671" "00019237" "11" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Val88Ile)" "3" "0000375672" "00019237" "11" "2130" "0" "2130" "0" "c.2130C>T" "r.(?)" "p.(=)" "19" "0000375673" "00019237" "11" "2218" "0" "2218" "0" "c.2218G>A" "r.(?)" "p.(Gly740Ser)" "19" "0000375674" "00019237" "11" "2218" "0" "2218" "0" "c.2218G>A" "r.(?)" "p.(Gly740Ser)" "19" "0000375675" "00019237" "99" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Gly424Asp)" "11" "0000375676" "00019237" "99" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Gly424Asp)" "11" "0000375677" "00019237" "99" "1540" "0" "1540" "0" "c.1540C>A" "r.(?)" "p.(Gln514Lys)" "13" "0000375678" "00019237" "99" "1540" "0" "1540" "0" "c.1540C>A" "r.(?)" "p.(Gln514Lys)" "13" "0000375679" "00019237" "99" "1540" "0" "1540" "0" "c.1540C>A" "r.(?)" "p.(Gln514Lys)" "13" "0000375680" "00019237" "99" "1540" "0" "1540" "0" "c.1540C>A" "r.(?)" "p.(Gln514Lys)" "13" "0000375681" "00019237" "99" "1540" "0" "1540" "0" "c.1540C>A" "r.(?)" "p.(Gln514Lys)" "13" "0000375682" "00019237" "99" "1540" "0" "1540" "0" "c.1540C>A" "r.(?)" "p.(Gln514Lys)" "13" "0000375683" "00019237" "99" "1540" "0" "1540" "0" "c.1540C>A" "r.(?)" "p.(Gln514Lys)" "13" "0000375684" "00019237" "99" "1540" "0" "1540" "0" "c.1540C>A" "r.(?)" "p.(Gln514Lys)" "13" "0000375685" "00019237" "99" "1540" "0" "1540" "0" "c.1540C>A" "r.(?)" "p.(Gln514Lys)" "13" "0000375686" "00019237" "99" "304" "292" "765" "2672" "c.304+292_765+2672del" "r.?" "p.(Gly102Aspfs*4)" "3i_6i" "0000375687" "00019237" "99" "304" "292" "765" "2672" "c.304+292_765+2672del" "r.?" "p.(Gly102Aspfs*4)" "3i_6i" "0000375688" "00019237" "99" "1454" "0" "1454" "0" "c.1454C>G" "r.(?)" "p.(Thr485Arg)" "13" "0000375689" "00019237" "99" "1454" "0" "1454" "0" "c.1454C>G" "r.(?)" "p.(Thr485Arg)" "13" "0000375690" "00019237" "35" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "7" "0000375691" "00019237" "99" "164" "2" "164" "2" "c.164+2T>C" "r.spl?" "p.?" "2i" "0000530343" "00019237" "50" "-103" "0" "-103" "0" "c.-103T>C" "r.(?)" "p.(=)" "" "0000530344" "00019237" "10" "15" "0" "15" "0" "c.15C>A" "r.(?)" "p.(Gly5=)" "" "0000530345" "00019237" "90" "85" "0" "85" "0" "c.85G>C" "r.(?)" "p.(Glu29Gln)" "" "0000530346" "00019237" "50" "200" "0" "200" "0" "c.200C>G" "r.(?)" "p.(Thr67Ser)" "" "0000530347" "00019237" "50" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "" "0000530348" "00019237" "90" "416" "-1" "416" "-1" "c.416-1G>A" "r.spl?" "p.?" "" "0000530349" "00019237" "90" "416" "0" "416" "0" "c.416G>C" "r.(?)" "p.(Gly139Ala)" "" "0000530350" "00019237" "50" "431" "0" "431" "0" "c.431T>C" "r.(?)" "p.(Val144Ala)" "" "0000530352" "00019237" "10" "601" "-17" "601" "-17" "c.601-17C>T" "r.(=)" "p.(=)" "" "0000530354" "00019237" "90" "707" "0" "707" "0" "c.707T>C" "r.(?)" "p.(Leu236Pro)" "" "0000530355" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000530356" "00019237" "50" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Val281Ile)" "" "0000530357" "00019237" "10" "849" "0" "849" "0" "c.849G>C" "r.(?)" "p.(Met283Ile)" "" "0000530358" "00019237" "50" "849" "0" "849" "0" "c.849G>C" "r.(?)" "p.(Met283Ile)" "" "0000530359" "00019237" "10" "898" "0" "898" "0" "c.898A>C" "r.(?)" "p.(Ile300Leu)" "" "0000530360" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl?" "p.?" "" "0000530361" "00019237" "10" "970" "0" "970" "0" "c.970A>T" "r.(?)" "p.(Asn324Tyr)" "" "0000530362" "00019237" "50" "1002" "-9" "1002" "-9" "c.1002-9A>G" "r.(=)" "p.(=)" "" "0000530363" "00019237" "30" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Phe354Ser)" "" "0000530364" "00019237" "50" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Phe354Ser)" "" "0000530365" "00019237" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "" "0000530366" "00019237" "50" "1457" "0" "1457" "0" "c.1457G>C" "r.(?)" "p.(Cys486Ser)" "" "0000530367" "00019237" "50" "1544" "9" "1544" "9" "c.1544+9C>G" "r.(=)" "p.(=)" "" "0000530368" "00019237" "50" "1614" "5" "1614" "5" "c.1614+5G>A" "r.spl?" "p.?" "" "0000530369" "00019237" "50" "1616" "0" "1616" "0" "c.1616T>C" "r.(?)" "p.(Ile539Thr)" "" "0000530370" "00019237" "30" "1893" "0" "1893" "0" "c.1893C>A" "r.(?)" "p.(Thr631=)" "" "0000530371" "00019237" "10" "2139" "0" "2139" "0" "c.2139T>G" "r.(?)" "p.(Ile713Met)" "" "0000530372" "00019237" "50" "2235" "0" "2235" "0" "c.2235G>A" "r.(?)" "p.(Thr745=)" "" "0000530373" "00019237" "50" "2272" "0" "2273" "0" "c.2272_2273insCTT" "r.(?)" "p.(Glu757_Leu758insSer)" "" "0000530374" "00019237" "50" "2326" "0" "2326" "0" "c.2326C>T" "r.(?)" "p.(Arg776Cys)" "" "0000610607" "00019237" "30" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Ser)" "" "0000610608" "00019237" "50" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(His135Arg)" "" "0000610609" "00019237" "10" "416" "-16" "416" "-16" "c.416-16G>T" "r.(=)" "p.(=)" "" "0000610610" "00019237" "70" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Cys282Tyr)" "" "0000610611" "00019237" "90" "1246" "0" "1246" "0" "c.1246A>C" "r.(?)" "p.(Thr416Pro)" "" "0000610612" "00019237" "90" "1588" "0" "1588" "0" "c.1588T>C" "r.(?)" "p.(Tyr530His)" "" "0000610613" "00019237" "50" "2272" "0" "2273" "0" "c.2272_2273insCTT" "r.(?)" "p.(Glu757_Leu758insSer)" "" "0000652108" "00019237" "70" "-3" "-2" "-3" "-2" "c.-3-2A>G" "r.spl?" "p.?" "" "0000652109" "00019237" "70" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000652110" "00019237" "50" "872" "0" "872" "0" "c.872G>A" "r.(?)" "p.(Arg291Gln)" "" "0000652111" "00019237" "70" "1003" "0" "1003" "0" "c.1003T>C" "r.(?)" "p.(Phe335Leu)" "" "0000652112" "00019237" "50" "1468" "0" "1468" "0" "c.1468A>C" "r.(?)" "p.(Ile490Leu)" "" "0000652113" "00019237" "30" "1790" "0" "1790" "0" "c.1790T>C" "r.(?)" "p.(Leu597Ser)" "" "0000652114" "00019237" "70" "2027" "0" "2027" "0" "c.2027T>A" "r.(?)" "p.(Leu676Gln)" "" "0000652115" "00019237" "50" "2145" "0" "2145" "0" "c.2145G>T" "r.(?)" "p.(Lys715Asn)" "" "0000652117" "00019237" "30" "2326" "0" "2326" "0" "c.2326C>T" "r.(?)" "p.(Arg776Cys)" "" "0000655696" "00019237" "30" "135" "0" "135" "0" "c.135G>T" "r.(?)" "p.(Thr45=)" "" "0000655697" "00019237" "30" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Met175Val)" "" "0000655698" "00019237" "50" "1263" "5" "1263" "5" "c.1263+5G>T" "r.spl?" "p.?" "" "0000655699" "00019237" "10" "1363" "0" "1363" "0" "c.1363A>T" "r.(?)" "p.(Ile455Phe)" "" "0000655700" "00019237" "10" "1860" "0" "1860" "0" "c.1860T>C" "r.(?)" "p.(Asp620=)" "" "0000655701" "00019237" "70" "2171" "0" "2171" "0" "c.2171A>G" "r.(?)" "p.(Asp724Gly)" "" "0000655702" "00019237" "10" "2354" "0" "2354" "0" "c.*11G>A" "r.(=)" "p.(=)" "" "0000677926" "00019237" "30" "970" "0" "970" "0" "c.970A>T" "r.(?)" "p.(Asn324Tyr)" "" "0000686156" "00019237" "90" "626" "0" "626" "0" "c.626G>T" "r.(?)" "p.(Gly209Val)" "" "0000686179" "00019237" "90" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Glu384Gly)" "" "0000689855" "00019237" "30" "28" "0" "28" "0" "c.28C>A" "r.(?)" "p.(Pro10Thr)" "" "0000689856" "00019237" "10" "766" "-20" "766" "-20" "c.766-20A>C" "r.(=)" "p.(=)" "" "0000689857" "00019237" "90" "1651" "0" "1651" "0" "c.1651dup" "r.(?)" "p.(Ser551PhefsTer13)" "" "0000721176" "00019237" "90" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Gly102Arg)" "" "0000721177" "00019237" "50" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "" "0000721178" "00019237" "90" "370" "0" "382" "0" "c.370_382del" "r.(?)" "p.(Ile124Leufs*17)" "" "0000721179" "00019237" "50" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Gly149Glu)" "" "0000721180" "00019237" "50" "572" "0" "572" "0" "c.572C>T" "r.(?)" "p.(Ala191Val)" "" "0000721181" "00019237" "30" "601" "-5" "601" "-5" "c.601-5C>T" "r.spl?" "p.?" "" "0000721182" "00019237" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Ala284Thr)" "" "0000721183" "00019237" "50" "1003" "0" "1003" "0" "c.1003T>C" "r.(?)" "p.(Phe335Leu)" "" "0000721184" "00019237" "50" "1003" "0" "1003" "0" "c.1003T>C" "r.(?)" "p.(Phe335Leu)" "" "0000721185" "00019237" "50" "1183" "0" "1183" "0" "c.1183T>C" "r.(?)" "p.(Ser395Pro)" "" "0000736486" "00019237" "70" "412" "0" "412" "0" "c.412G>T" "r.(?)" "p.(Val138Phe)" "4" "0000736487" "00019237" "70" "554" "0" "554" "0" "c.554G>C" "r.(?)" "p.(Arg185Thr)" "5" "0000787491" "00019237" "90" "1334" "0" "1334" "0" "c.1334T>G" "r.(?)" "p.(Leu445Trp)" "11" "0000788734" "00019237" "70" "1001" "0" "1001" "0" "c.1001G>T" "r.(?)" "p.(Gly334Val)" "" "0000794899" "00019237" "50" "1543" "0" "1543" "0" "c.1543T>C" "r.(?)" "p.(Phe515Leu)" "" "0000795476" "00019237" "90" "1615" "-2" "1615" "-2" "c.1615-2A>G" "r.spl" "p.?" "" "0000795477" "00019237" "90" "481" "0" "481" "0" "c.481T>A" "r.(?)" "p.(Phe161Ile)" "" "0000795478" "00019237" "50" "1662" "0" "1662" "0" "c.1662T>G" "r.(?)" "p.(Ile554Met)" "" "0000795479" "00019237" "70" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "" "0000795480" "00019237" "70" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "" "0000795491" "00019237" "70" "412" "0" "412" "0" "c.412G>T" "r.(?)" "p.(Val138Phe)" "" "0000795492" "00019237" "70" "554" "0" "554" "0" "c.554G>C" "r.(?)" "p.(Arg185Thr)" "" "0000796597" "00019237" "50" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Thr307Met)" "" "0000796609" "00019237" "50" "1963" "0" "1963" "0" "c.1963A>G" "r.(?)" "p.(Ile655Val)" "" "0000796638" "00019237" "50" "1195" "0" "1195" "0" "c.1195T>C" "r.(?)" "p.(Ser399Pro)" "" "0000802828" "00019237" "30" "17" "0" "17" "0" "c.17G>T" "r.(?)" "p.(Gly6Val)" "" "0000802829" "00019237" "50" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Pro112Ser)" "" "0000802830" "00019237" "10" "416" "-13" "416" "-13" "c.416-13T>C" "r.(=)" "p.(=)" "" "0000802831" "00019237" "50" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Pro332Ser)" "" "0000802832" "00019237" "90" "1001" "4" "1001" "4" "c.1001+4A>G" "r.spl?" "p.?" "" "0000802833" "00019237" "30" "1341" "7" "1341" "7" "c.1341+7C>A" "r.(=)" "p.(=)" "" "0000802834" "00019237" "10" "1488" "0" "1488" "0" "c.1488C>T" "r.(?)" "p.(Leu496=)" "" "0000802835" "00019237" "50" "1804" "-6" "1804" "-6" "c.1804-6G>A" "r.(=)" "p.(=)" "" "0000815725" "00019237" "70" "203" "0" "203" "0" "c.203T>C" "r.(?)" "p.(Leu68Pro)" "" "0000815726" "00019237" "70" "412" "0" "412" "0" "c.412G>T" "r.(?)" "p.(Val138Phe)" "" "0000829042" "00019237" "70" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Glu384Gly)" "" "0000830863" "00019237" "90" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "" "0000830864" "00019237" "90" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "" "0000830865" "00019237" "90" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "" "0000830866" "00019237" "90" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "" "0000830867" "00019237" "90" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "" "0000839385" "00019237" "70" "692" "0" "692" "0" "c.692T>A" "r.(?)" "p.(Val231Glu)" "" "0000851367" "00019237" "30" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Asn322Asp)" "" "0000851368" "00019237" "50" "2326" "0" "2326" "0" "c.2326C>T" "r.(?)" "p.(Arg776Cys)" "" "0000860580" "00019237" "70" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Pro157=)" "" "0000860581" "00019237" "30" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Ala179Thr)" "" "0000860582" "00019237" "30" "1491" "0" "1491" "0" "c.1491T>C" "r.(?)" "p.(Gly497=)" "" "0000871768" "00019237" "50" "562" "0" "562" "0" "c.562A>G" "r.(?)" "p.(Ile188Val)" "" "0000871803" "00019237" "30" "849" "0" "849" "0" "c.849G>C" "r.(?)" "p.(Met283Ile)" "" "0000880079" "00019237" "70" "1339" "0" "1340" "0" "c.1339_1340delinsTCT" "r.(?)" "p.(Lys447Serfs*21)" "" "0000887541" "00019237" "10" "1002" "-9" "1002" "-9" "c.1002-9A>C" "r.(=)" "p.(=)" "" "0000887542" "00019237" "70" "1003" "0" "1003" "0" "c.1003T>C" "r.(?)" "p.(Phe335Leu)" "" "0000887543" "00019237" "30" "1344" "0" "1344" "0" "c.1344G>A" "r.(?)" "p.(Ser448=)" "" "0000912613" "00019237" "50" "893" "0" "893" "0" "c.893T>G" "r.(?)" "p.(Val298Gly)" "" "0000912614" "00019237" "10" "1363" "0" "1363" "0" "c.1363A>T" "r.(?)" "p.(Ile455Phe)" "" "0000924613" "00019237" "30" "1614" "8" "1614" "8" "c.1614+8C>T" "r.(=)" "p.(=)" "" "0000929263" "00019237" "70" "1003" "0" "1003" "0" "c.1003T>C" "r.(?)" "p.(Phe335Leu)" "" "0000936034" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl" "p.?" "" "0000943883" "00019237" "90" "1334" "0" "1334" "0" "c.1334T>G" "r.(?)" "p.(Leu445Trp)" "11" "0000943915" "00019237" "90" "1547" "0" "1547" "0" "c.1547dup" "r.(?)" "p.(Ser517Phefs*10)" "" "0000943923" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl" "p.?" "11" "0000944170" "00019237" "90" "42" "0" "42" "0" "c.42del" "r.(?)" "p.(Glu15SerfsTer51)" "" "0000944171" "00019237" "90" "71" "0" "71" "0" "c.71G>T" "r.(?)" "p.(Arg24Leu)" "" "0000944172" "00019237" "90" "71" "0" "71" "0" "c.71G>T" "r.(?)" "p.(Arg24Leu)" "" "0000944173" "00019237" "90" "154" "0" "154" "0" "c.154A>T" "r.(?)" "p.(Lys52Ter)" "" "0000944174" "00019237" "70" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Ala106Val)" "" "0000944175" "00019237" "90" "413" "0" "413" "0" "c.413T>A" "r.(?)" "p.(Val138Asp)" "" "0000944176" "00019237" "90" "416" "0" "416" "0" "c.416G>T" "r.(?)" "p.(Gly139Val)" "" "0000944177" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944178" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944179" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944180" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944181" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944182" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944183" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944184" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944185" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944186" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944187" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944188" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944189" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944190" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944191" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944192" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944193" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944194" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944195" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944196" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944197" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944198" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944199" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944200" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl" "p.?" "" "0000944201" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl" "p.?" "" "0000944202" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl" "p.?" "" "0000944203" "00019237" "90" "1001" "0" "1001" "0" "c.1001G>T" "r.(?)" "p.(Gly334Val)" "" "0000944204" "00019237" "90" "1198" "0" "1198" "0" "c.1198del" "r.(?)" "p.(Cys400ValfsTer32)" "" "0000944205" "00019237" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Arg409His)" "" "0000944206" "00019237" "90" "1226" "0" "1226" "0" "c.1226G>C" "r.(?)" "p.(Arg409Pro)" "" "0000944207" "00019237" "90" "1226" "0" "1226" "0" "c.1226G>C" "r.(?)" "p.(Arg409Pro)" "" "0000944208" "00019237" "90" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "" "0000944209" "00019237" "90" "1238" "0" "1238" "0" "c.1238A>G" "r.(?)" "p.(Gln413Arg)" "" "0000944210" "00019237" "90" "1264" "-3" "1264" "-3" "c.1264-3C>G" "r.spl" "p.?" "" "0000944211" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944212" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944213" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944214" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944215" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944216" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944217" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944218" "00019237" "90" "2106" "0" "2106" "0" "c.2106del" "r.(?)" "p.(Lys702AsnfsTer19)" "" "0000944219" "00019237" "90" "2106" "0" "2106" "0" "c.2106del" "r.(?)" "p.(Lys702AsnfsTer19)" "" "0000944220" "00019237" "90" "2106" "0" "2106" "0" "c.2106del" "r.(?)" "p.(Lys702AsnfsTer19)" "" "0000944221" "00019237" "90" "2106" "0" "2106" "0" "c.2106del" "r.(?)" "p.(Lys702AsnfsTer19)" "" "0000944222" "00019237" "90" "2106" "0" "2106" "0" "c.2106del" "r.(?)" "p.(Lys702AsnfsTer19)" "" "0000944223" "00019237" "90" "2106" "0" "2106" "0" "c.2106del" "r.(?)" "p.(Lys702AsnfsTer19)" "" "0000944290" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944291" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944292" "00019237" "90" "1226" "0" "1226" "0" "c.1226G>C" "r.(?)" "p.(Arg409Pro)" "" "0000944293" "00019237" "90" "1229" "0" "1229" "0" "c.1229C>T" "r.(?)" "p.(Thr410Met)" "" "0000944470" "00019237" "90" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ser57Ter)" "" "0000944471" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944472" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944473" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944474" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0000944475" "00019237" "90" "965" "0" "965" "0" "c.965dup" "r.(?)" "p.(Asn322LysfsTer8)" "" "0000944476" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944477" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944478" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944479" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944480" "00019237" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0000944481" "00019237" "90" "1667" "0" "1667" "0" "c.1667A>G" "r.(?)" "p.(Tyr556Cys)" "" "0000944482" "00019237" "90" "1667" "0" "1667" "0" "c.1667A>G" "r.(?)" "p.(Tyr556Cys)" "" "0000948795" "00019237" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.?" "" "0000964372" "00019237" "50" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Pro70Leu)" "" "0000964373" "00019237" "70" "304" "0" "304" "0" "c.304G>C" "r.(?)" "p.(Gly102Arg)" "" "0000964374" "00019237" "90" "1991" "0" "1991" "0" "c.1991C>T" "r.(?)" "p.(Ala664Val)" "" "0001007026" "00019237" "90" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "" "0001036050" "00019237" "10" "601" "-5" "601" "-5" "c.601-5C>T" "r.spl?" "p.?" "" "0001036051" "00019237" "50" "2582" "0" "2582" "0" "c.*239C>T" "r.(=)" "p.(=)" "" "0001044910" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl" "p.?" "" "0001044911" "00019237" "90" "2168" "0" "2168" "0" "c.2168A>G" "r,(?)" "p.(His723Arg)" "" "0001044912" "00019237" "90" "1229" "0" "1229" "0" "c.1229C>T" "r,(?)" "p.(Thr410Met)" "" "0001044913" "00019237" "90" "1160" "0" "1160" "0" "c.1160C>T" "r,(?)" "p.(Ala387Val)" "" "0001044914" "00019237" "90" "754" "0" "754" "0" "c.754T>C" "r,(?)" "p.(Ser252Pro)" "" "0001044915" "00019237" "90" "1115" "0" "1115" "0" "c.1115C>T" "r,(?)" "p.(Ala372Val)" "" "0001044916" "00019237" "90" "916" "0" "916" "0" "c.916dup" "r,(?)" "p.(Val306GlyfsTer24)" "" "0001044917" "00019237" "90" "164" "1" "164" "1" "c.164+1G>C" "r.spl" "p.?" "" "0001044918" "00019237" "90" "706" "0" "706" "0" "c.706C>G" "r,(?)" "p.(Leu236Val)" "" "0001044919" "00019237" "90" "1343" "0" "1343" "0" "c.1343C>T" "r,(?)" "p.(Ser448Leu)" "" "0001044920" "00019237" "90" "439" "0" "439" "0" "c.439A>G" "r,(?)" "p.(Met147Val)" "" "0001044921" "00019237" "90" "1079" "0" "1079" "0" "c.1079C>T" "r,(?)" "p.(Ala360Val)" "" "0001044922" "00019237" "90" "1173" "0" "1173" "0" "c.1173C>A" "r,(?)" "p.(Ser391Arg)" "" "0001044923" "00019237" "90" "1318" "0" "1318" "0" "c.1318A>T" "r,(?)" "p.(Lys440Ter)" "" "0001044924" "00019237" "90" "1489" "0" "1489" "0" "c.1489G>C" "r,(?)" "p.(Gly497Arg)" "" "0001044925" "00019237" "90" "2086" "0" "2086" "0" "c.2086C>T" "r,(?)" "p.(Gln696Ter)" "" "0001044926" "00019237" "90" "2" "0" "2" "0" "c.2T>G" "r,(?)" "p.(Met1?)" "" "0001044927" "00019237" "90" "230" "0" "230" "0" "c.230A>T" "r,(?)" "p.(Lys77Ile)" "" "0001044928" "00019237" "90" "235" "0" "235" "0" "c.235C>T" "r,(?)" "p.(Arg79Ter)" "" "0001044929" "00019237" "90" "241" "0" "241" "0" "c.241A>G" "r,(?)" "p.(Lys81Glu)" "" "0001044930" "00019237" "90" "387" "0" "387" "0" "c.387del" "r,(?)" "p.(Phe130LeufsTer15)" "" "0001044931" "00019237" "90" "416" "-1" "416" "-1" "c.416-1G>A" "r.spl" "p.?" "" "0001044932" "00019237" "90" "697" "0" "697" "0" "c.697G>C" "r,(?)" "p.(Val233Leu)" "" "0001044933" "00019237" "90" "918" "2" "918" "2" "c.918+2T>C" "r.spl" "p.?" "" "0001044934" "00019237" "90" "1001" "1" "1001" "1" "c.1001+1G>A" "r.spl" "p.?" "" "0001044935" "00019237" "90" "1105" "0" "1105" "0" "c.1105A>T" "r,(?)" "p.(Lys369Ter)" "" "0001044936" "00019237" "90" "1174" "0" "1174" "0" "c.1174A>T" "r,(?)" "p.(Asn392Tyr)" "" "0001044937" "00019237" "90" "1226" "0" "1226" "0" "c.1226G>A" "r,(?)" "p.(Arg409His)" "" "0001044938" "00019237" "90" "1489" "0" "1489" "0" "c.1489G>A" "r,(?)" "p.(Gly497Ser)" "" "0001044939" "00019237" "90" "1520" "0" "1520" "0" "c.1520del" "r,(?)" "p.(Leu507Ter)" "" "0001044940" "00019237" "90" "1544" "6" "1544" "6" "c.1544+6T>C" "r.spl" "p.?" "" "0001044941" "00019237" "90" "1614" "1" "1614" "1" "c.1614+1G>A" "r.spl" "p.?" "" "0001044942" "00019237" "90" "1615" "-2" "1615" "-2" "c.1615-2A>G" "r.spl" "p.?" "" "0001044943" "00019237" "90" "1658" "0" "1658" "0" "c.1658C>A" "r,(?)" "p.(Pro553His)" "" "0001044944" "00019237" "90" "1693" "0" "1694" "0" "c.1693_1694insA" "r,(?)" "p.(Cys565Ter)" "" "0001044945" "00019237" "90" "1707" "1" "1707" "1" "c.1707+1G>A" "r.spl" "p.?" "" "0001044946" "00019237" "90" "1786" "0" "1786" "0" "c.1786C>T" "r,(?)" "p.(Gln596Ter)" "" "0001044947" "00019237" "90" "1829" "0" "1829" "0" "c.1829C>A" "r,(?)" "p.(Ser610Ter)" "" "0001044948" "00019237" "90" "1975" "0" "1975" "0" "c.1975G>C" "r,(?)" "p.(Val659Leu)" "" "0001044949" "00019237" "90" "2086" "0" "2086" "0" "c.2086C>T" "r,(?)" "p.(Gln696Ter)" "" "0001044950" "00019237" "90" "2089" "0" "2089" "0" "c.2089G>C" "r,(?)" "p.(Asp697His)" "" "0001044951" "00019237" "90" "2107" "0" "2107" "0" "c.2107C>G" "r,(?)" "p.(Leu703Val)" "" "0001044952" "00019237" "90" "2162" "0" "2162" "0" "c.2162C>T" "r,(?)" "p.(Thr721Met)" "" "0001044953" "00019237" "90" "-1288" "0" "304" "3801" "c.-1288_304+3801del" "r.0?" "p.0?" "_1_3i" "0001044954" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl" "p.?" "" "0001044955" "00019237" "90" "916" "0" "916" "0" "c.916dup" "r,(?)" "p.(Val306GlyfsTer24)" "" "0001044956" "00019237" "90" "974" "0" "977" "0" "c.974_977delinsTTAAATTA" "r,(?)" "p.(Ala325ValfsTer6)" "" "0001045013" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>C" "r.0?" "p.0?" "7i" "0001045014" "00019237" "70" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "" "0001045016" "00019237" "70" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Lys81Glu)" "" "0001045018" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl" "p.?" "" "0001045019" "00019237" "70" "1544" "6" "1544" "6" "c.1544+6T>C" "r.spl?" "p.(?)" "" "0001045020" "00019237" "70" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "" "0001045024" "00019237" "70" "2168" "0" "2168" "0" "c.2168A>G" "r.(?)" "p.(His723Arg)" "" "0001045025" "00019237" "90" "919" "-2" "919" "-2" "c.919-2A>G" "r.spl" "p.?" "" "0001045525" "00019237" "70" "293" "0" "293" "0" "c.293C>A" "r.(?)" "p.(Ala98Asp)" "" "0001045526" "00019237" "70" "302" "0" "302" "0" "c.302A>C" "r.(?)" "p.(Gln101Pro)" "" "0001045527" "00019237" "70" "617" "0" "617" "0" "c.617T>A" "r.(?)" "p.(Leu206*)" "" "0001045529" "00019237" "70" "1544" "1" "1544" "1" "c.1544+1G>A" "r.spl" "p.?" "" "0001045530" "00019237" "70" "2028" "0" "2028" "0" "c.2028del" "r.(?)" "p.(Arg677GlyfsTer2)" "" "0001049387" "00019237" "90" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ser57Ter)" "" "0001049388" "00019237" "90" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Ser90Leu)" "" "0001049389" "00019237" "90" "716" "0" "716" "0" "c.716T>A" "r.(?)" "p.(Val239Asp)" "" "0001049390" "00019237" "70" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0001049391" "00019237" "70" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0001049392" "00019237" "70" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0001049393" "00019237" "70" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0001049394" "00019237" "70" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0001049395" "00019237" "70" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0001049396" "00019237" "70" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Gln446Arg)" "" "0001049397" "00019237" "90" "1586" "0" "1586" "0" "c.1586T>C" "r.(?)" "p.(Ile529Thr)" "" "0001052787" "00019237" "50" "1514" "0" "1514" "0" "c.1514G>T" "r.(?)" "p.(Gly505Val)" "" "0001052788" "00019237" "50" "2161" "0" "2161" "0" "c.2161A>G" "r.(?)" "p.(Thr721Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 785 "{{screeningid}}" "{{variantid}}" "0000059009" "0000089806" "0000059010" "0000089807" "0000059149" "0000089961" "0000059149" "0000089962" "0000060251" "0000091248" "0000060251" "0000091250" "0000060253" "0000091251" "0000060254" "0000091252" "0000080230" "0000129180" "0000080230" "0000129181" "0000080240" "0000129194" "0000080829" "0000129881" "0000080856" "0000129914" "0000080857" "0000129915" "0000080858" "0000129916" "0000080859" "0000129917" "0000080860" "0000129918" "0000080861" "0000129919" "0000080862" "0000129920" "0000080863" "0000129921" "0000080864" "0000129922" "0000087376" "0000140549" "0000087376" "0000140553" "0000164676" "0000368247" "0000168164" "0000375120" "0000168164" "0000375122" "0000168165" "0000375124" "0000168165" "0000375125" "0000168166" "0000375126" "0000168166" "0000375127" "0000168167" "0000375128" "0000168167" "0000375129" "0000168168" "0000375130" "0000168168" "0000375131" "0000168169" "0000375114" "0000168169" "0000375115" "0000168170" "0000375116" "0000168170" "0000375117" "0000168171" "0000375118" "0000168171" "0000375119" "0000168173" "0000375104" "0000168173" "0000375109" "0000168174" "0000375105" "0000168174" "0000375110" "0000168186" "0000375106" "0000168186" "0000375111" "0000168187" "0000375107" "0000168187" "0000375112" "0000168188" "0000375108" "0000168188" "0000375113" "0000168189" "0000375121" "0000168189" "0000375123" "0000168190" "0000375135" "0000168190" "0000375136" "0000168191" "0000375164" "0000168192" "0000375165" "0000168193" "0000375273" "0000168194" "0000375166" "0000168194" "0000375245" "0000168195" "0000375167" "0000168195" "0000375246" "0000168196" "0000375168" "0000168196" "0000375247" "0000168197" "0000375169" "0000168197" "0000375248" "0000168198" "0000375170" "0000168198" "0000375249" "0000168199" "0000375171" "0000168199" "0000375250" "0000168200" "0000375172" "0000168200" "0000375251" "0000168201" "0000375173" "0000168201" "0000375252" "0000168202" "0000375174" "0000168202" "0000375253" "0000168203" "0000375175" "0000168203" "0000375254" "0000168204" "0000375176" "0000168204" "0000375255" "0000168205" "0000375177" "0000168205" "0000375256" "0000168206" "0000375278" "0000168206" "0000375286" "0000168207" "0000375178" "0000168207" "0000375288" "0000168208" "0000375179" "0000168208" "0000375290" "0000168209" "0000375292" "0000168209" "0000375298" "0000168210" "0000375180" "0000168210" "0000375359" "0000168211" "0000375181" "0000168211" "0000375360" "0000168212" "0000375182" "0000168212" "0000375361" "0000168213" "0000375183" "0000168213" "0000375362" "0000168214" "0000375394" "0000168214" "0000375403" "0000168215" "0000375404" "0000168215" "0000375411" "0000168216" "0000375184" "0000168216" "0000375396" "0000168217" "0000375185" "0000168217" "0000375397" "0000168218" "0000375186" "0000168218" "0000375437" "0000168219" "0000375187" "0000168219" "0000375439" "0000168220" "0000375188" "0000168220" "0000375440" "0000168221" "0000375395" "0000168221" "0000375441" "0000168222" "0000375189" "0000168222" "0000375299" "0000168223" "0000375190" "0000168223" "0000375300" "0000168224" "0000375191" "0000168224" "0000375443" "0000168225" "0000375192" "0000168225" "0000375444" "0000168226" "0000375193" "0000168226" "0000375445" "0000168227" "0000375194" "0000168227" "0000375446" "0000168228" "0000375195" "0000168228" "0000375447" "0000168229" "0000375352" "0000168230" "0000375353" "0000168230" "0000375363" "0000168231" "0000375196" "0000168231" "0000375448" "0000168232" "0000375197" "0000168233" "0000375198" "0000168233" "0000375449" "0000168234" "0000375199" "0000168234" "0000375451" "0000168235" "0000375200" "0000168235" "0000375452" "0000168236" "0000375201" "0000168236" "0000375450" "0000168237" "0000375202" "0000168237" "0000375453" "0000168238" "0000375456" "0000168238" "0000375457" "0000168239" "0000375203" "0000168239" "0000375458" "0000168240" "0000375204" "0000168240" 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