### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLCN5) # 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}}" "CLCN5" "chloride channel, voltage-sensitive 5" "X" "p11.23-p11.22" "unknown" "NC_000023.10" "NC_000023.10" "" "https://www.LOVD.nl/CLCN5" "" "1" "2023" "1184" "300008" "1" "1" "1" "1" "change to MANE NM_001127898.3\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/CLCN5_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2021-12-18 17:13:49" "00006" "2026-04-27 21:58:27" ## 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}}" "00025670" "CLCN5" "chloride voltage-gated channel 5, transcript variant 2" "006" "NM_001127898.3" "" "NP_001121370.1" "" "" "" "-382" "9467" "2451" "49687225" "49863892" "00006" "2021-12-18 16:56:28" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00249" "DENT1" "Dent disease, type 1" "XLR" "300009" "" "" "" "00006" "2013-10-20 13:22:51" "00006" "2021-12-10 21:51:32" "00250" "XLHRR" "rickets, hypophosphatemic, X-linked recessive" "XLR" "300554" "" "" "" "00006" "2013-10-20 13:24:02" "00006" "2026-04-24 17:54:37" "00251" "XRN" "nephrolithiasis, Xlinked, with renal failure, type 1 (XRN1)" "XLR" "310468" "" "" "" "00006" "2013-10-20 13:42:56" "00006" "2021-12-10 21:51:32" "00252" "-" "proteinuria, hypercalciuria, nephrocalcinosis" "XLR" "308990" "" "" "" "00006" "2013-10-20 13:44:39" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02241" "XLHRD" "rickets, hypophosphatemic, X-linked dominant" "XLD" "307800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-04-27 08:40:42" "04154" "NPHL" "nephrolithiasis" "" "" "" "" "" "00006" "2014-12-03 13:17:46" "00006" "2022-10-23 21:40:24" "06886" "hypophosphatemia" "hypophosphatemia" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2026-04-26 13:37:16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "CLCN5" "00249" "CLCN5" "00250" "CLCN5" "00251" "CLCN5" "00252" "CLCN5" "04154" "CLCN5" "06886" ## Individuals ## Do not remove or alter this header ## ## Count = 294 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00025648" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent23-1" "00025649" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent133-1 " "00025650" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent46-1 " "00025651" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent2-1" "00025652" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent13-1" "00025653" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent16-1 " "00025654" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent17-1 " "00025655" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent18-1" "00025656" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent20-1 " "00025657" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "yes" "France" "" "0" "" "" "white" "Dent25-1" "00025658" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent27-1" "00025659" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent31-1 " "00025660" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent33-1" "00025661" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent35-1" "00025662" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent37-1" "00025663" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent40-1" "00025664" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent45-1" "00025665" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent47-1" "00025666" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent53-1" "00025667" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent56-1" "00025668" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent59-1" "00025669" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent62-1" "00025670" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent71-1" "00025671" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent74-1" "00025672" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent76-1" "00025673" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent96-1" "00025674" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent97-1 " "00025675" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent104-1" "00025676" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "" "" "0" "" "" "" "Dent124-1" "00025677" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent126-1" "00025678" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "" "" "0" "" "" "" "Dent128-1 " "00025679" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "" "" "0" "" "" "" "Dent144-1" "00025680" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent146-1 " "00025681" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent163-1" "00025682" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "" "" "0" "" "" "" "Dent171-1" "00025683" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "" "" "0" "" "" "" "Dent179-1" "00025684" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "Switzerland" "" "0" "" "" "white" "Dent180-1" "00025685" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent5-1" "00025686" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent8-1" "00025687" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent9-1" "00025688" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "" "" "0" "" "" "" "Dent11-4" "00025689" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent12-3" "00025690" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent15-1" "00025691" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent21-1" "00025692" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent22-1" "00025693" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent26-1" "00025694" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent36-1" "00025695" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent38-1" "00025696" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent43-1" "00025697" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent44-1" "00025698" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent50-1" "00025699" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent65-1" "00025700" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent66-1" "00025701" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent69-1" "00025702" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent70-1" "00025703" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent80-1" "00025704" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent83-1" "00025705" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent87-1" "00025706" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent89-1" "00025707" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent91-1" "00025708" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent103-1" "00025709" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "" "" "0" "" "" "" "Dent105-1" "00025710" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent106-1" "00025711" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "" "" "0" "" "" "" "Dent111-1" "00025712" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent113-1" "00025713" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent116-1" "00025714" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "" "" "0" "" "" "" "Dent119-1" "00025715" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent134-1" "00025716" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent136-1" "00025717" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent139-1" "00025718" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent148-1" "00025719" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent149-1" "00025720" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent154-1" "00025721" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent155-1" "00025722" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent158-1" "00025723" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent159-1" "00025724" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent162-1" "00025725" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent164-1" "00025726" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent170-1" "00025727" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent173-1" "00025728" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent176-1" "00025729" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "?" "France" "" "0" "" "" "white" "Dent182-1" "00025730" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "no" "France" "" "0" "" "" "white" "Dent191-1" "00025731" "" "" "" "1" "" "00006" "{PMID:Lloyd 1996:8559248}" "multi-general family" "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00025732" "" "" "" "1" "" "00006" "{PMID:Lloyd 1996:8559248}" "multi-generation family" "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00025733" "" "" "" "1" "" "01156" "{PMID:Lloyd 1996:8559248}" "3-generation family" "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00025734" "" "" "" "1" "" "01156" "{PMID:Lloyd 1996:8559248}" "multi-generation family" "-" "no" "United States" "" "0" "" "" "" "" "00025735" "" "" "" "1" "" "00006" "{PMID:Lloyd 1996:8559248}" "multi-generation family" "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00025736" "" "" "" "9" "" "01156" "{PMID:Lloyd 1996:8559248}" "4-generation family, 9 affecteds" "-" "no" "Italy" "" "0" "" "" "" "" "00025737" "" "" "" "3" "" "00006" "{PMID:Lloyd 1996:8559248}" "3-generation family, 3 affecteds" "-" "no" "United States" "" "0" "" "" "" "" "00025738" "" "" "" "1" "" "00006" "{PMID:Lloyd 1996:8559248}" "multi-generation family" "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00025739" "" "" "" "1" "" "00006" "{PMID:Lloyd 1996:8559248}" "multi-generation family" "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00025740" "" "" "" "1" "" "00006" "{PMID:Lloyd 1996:8559248}" "multi-generation family" "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00025741" "" "" "" "1" "" "00006" "{PMID:Lloyd 1996:8559248}" "multi-generation family" "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00025742" "" "" "" "1" "" "00006" "{PMID:Lloyd 1996:8559248}" "multi-generation family" "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00025743" "" "" "" "2" "" "00006" "{PMID:Lloyd 1997:9259268}" "2-generation family, 2 affected males" "M" "" "Japan" "" "0" "" "" "" "" "00025744" "" "" "" "1" "" "00006" "{PMID:Lloyd 1997:9259268}" "2-generation family, affected male" "M" "" "Japan" "" "0" "" "" "" "" "00025745" "" "" "" "2" "" "00006" "{PMID:Lloyd 1997:9259268}" "2-generation family, 2 affected males" "M" "" "Japan" "" "0" "" "" "" "" "00025746" "" "" "" "1" "" "00006" "{PMID:Lloyd 1997:9259268}" "2-generation family, affected male" "M" "" "Japan" "" "0" "" "" "" "" "00025747" "" "" "" "1" "" "00006" "{PMID:Lloyd 1997:9259268}" "family, 1 affected" "M" "" "United States" "" "0" "" "" "British, white" "" "00025748" "" "" "" "2" "" "00006" "{PMID:Lloyd 1997:9259268}" "family, 2 affecteds" "M" "" "United States" "" "0" "" "" "African American" "" "00025749" "" "" "" "1" "" "00006" "{PMID:Lloyd 1997:9259268}" "family, 1 affected" "M" "" "United States" "" "0" "" "" "white" "" "00025750" "" "" "" "1" "" "00006" "{PMID:Lloyd 1997:9259268}" "3-generation family, 1 affected" "M" "" "India" "" "0" "" "" "" "" "00025751" "" "" "" "2" "" "01156" "{PMID:Lloyd 1997:9259268}" "family, 2 affecteds" "M" "" "Italy" "" "0" "" "" "" "" "00025752" "" "" "" "4" "" "00006" "{PMID:Oudet 1997:9187673}" "2-generation family, 4 affected males" "M" "" "France" "" "0" "" "" "" "" "00025753" "" "" "" "6" "" "00006" "{PMID:Schurman 1998:9602200}" "6-generation family, 6 affected males" "M" "no" "United States" "" "0" "" "" "" "" "00025754" "" "" "" "1" "" "00006" "{PMID:Claverie-Martin 2003:14569459}" "3-generation family, affected male" "M" "no" "Spain" "" "0" "" "" "" "" "00025755" "" "" "" "1" "" "00006" "{PMID:Tosetto 2006:16247550}" "3-generation family, 1 affected" "M" "" "Italy" "" "0" "" "" "" "" "00025756" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025757" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025758" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025759" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025760" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025761" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025762" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025763" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025764" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025765" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025766" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025767" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025768" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025769" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "Sardinia" "" "00025770" "" "" "" "1" "" "00006" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00025771" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377160-Pat?" "00025772" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377161-Pat?" "00025773" "" "" "" "1" "" "01156" "{PMID:Akuta 1997:9328929}" "" "" "" "" "" "0" "" "" "" "" "00025774" "" "" "" "1" "" "01156" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat9" "00025775" "" "" "" "1" "" "01156" "{PMID:Ludwig 2005:15895257}" "" "" "" "" "" "0" "" "" "" "" "00025776" "" "" "" "1" "" "01156" "{PMID:Ludwig 2006:16807762}" "patient" "M" "" "Germany" "" "0" "" "" "" "N1" "00025777" "" "" "" "1" "" "01156" "{PMID:Park 2014:24912603}" "" "" "" "" "" "0" "" "" "" "" "00025778" "" "" "" "1" "" "01156" "{PMID:Sekine 2014:24081861}" "" "" "" "Japan" "" "0" "" "" "" "" "00025779" "" "" "" "1" "" "01156" "{PMID:Wu 2009:19546591}" "" "" "" "" "" "0" "" "" "" "" "00025780" "" "" "" "1" "" "01156" "{PMID:Akuta 1997:9328929}" "" "" "" "" "" "0" "" "" "" "" "00025781" "" "" "" "1" "" "01156" "{PMID:Besbas 2005:15814539}" "" "" "" "" "" "0" "" "" "" "" "00025782" "" "" "" "1" "" "01156" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat15" "00025783" "" "" "" "1" "" "01156" "{PMID:Ludwig 2005:15895257}" "" "" "" "" "" "0" "" "" "" "" "00025784" "" "" "" "1" "" "01156" "{PMID:Morimoto 1998:9596078}" "" "" "" "" "" "0" "" "" "" "" "00025785" "" "" "" "1" "" "01156" "{PMID:Sekine 2014:24081861}" "" "" "" "Japan" "" "0" "" "" "" "" "00025786" "" "" "" "1" "" "01156" "{PMID:Tosetto 2006:16822791}" "" "" "" "" "" "0" "" "" "" "" "00025787" "" "" "" "1" "" "01156" "{PMID:Wu 2009:19546591}" "" "" "" "" "" "0" "" "" "" "" "00025788" "" "" "" "1" "" "01156" "{PMID:Blanchard 2008:18976849}" "" "" "" "" "" "0" "" "" "" "" "00025789" "" "" "" "1" "" "01156" "{PMID:Carballo-Trujillo 2003:12637640}" "" "" "" "" "" "0" "" "" "" "" "00025790" "" "" "" "1" "" "01156" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat17" "00025791" "" "" "" "1" "" "01156" "{PMID:Wu 2009:19546591}" "" "" "" "" "" "0" "" "" "" "" "00025792" "" "" "" "1" "" "01156" "Ramos-Trujillo 2013:Journal of Pediatric Genetics" "" "" "" "" "" "0" "" "" "" "" "00025793" "" "" "" "1" "" "01156" "{PMID:Grand 2009:19657328}" "" "" "" "" "" "0" "" "" "" "" "00025794" "" "" "" "1" "" "01156" "{PMID:Grand 2009:19657328}" "" "" "" "" "" "0" "" "" "" "" "00025795" "" "" "" "1" "" "01156" "{PMID:Grand 2009:19657328}" "" "" "" "" "" "0" "" "" "" "" "00025796" "" "" "" "1" "" "01156" "{PMID:Grand 2009:19657328}" "" "" "" "" "" "0" "" "" "" "" "00025797" "" "" "" "1" "" "01156" "{PMID:Grand 2009:19657328}" "" "" "" "" "" "0" "" "" "" "" "00025798" "" "" "" "1" "" "01156" "{PMID:Lee 2009:19579036}" "" "" "" "" "" "0" "" "" "" "" "00025799" "" "" "" "1" "" "01156" "{PMID:Grand 2009:19657328}" "" "" "" "" "" "0" "" "" "" "" "00025800" "" "" "" "1" "" "01156" "{PMID:Park 2014:24912603}" "" "" "" "" "" "0" "" "" "" "" "00025801" "" "" "" "1" "" "01156" "{PMID:Sekine 2014:24081861}" "" "" "" "Japan" "" "0" "" "" "" "" "00025802" "" "" "" "1" "" "01156" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat11" "00025803" "" "" "" "1" "" "01156" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat1" "00025804" "" "" "" "1" "" "01156" "{PMID:Ludwig 2005:15895257}" "" "" "" "" "" "0" "" "" "" "" "00025805" "" "" "" "1" "" "01156" "{PMID:Dinour 2009:19546586}" "" "" "" "" "" "0" "" "" "" "" "00025806" "" "" "" "1" "" "01156" "{PMID:Li 2009:19076289}" "" "" "" "" "" "0" "" "" "" "" "00025807" "" "" "" "1" "" "01156" "{PMID:Ludwig 2005:15895257}" "" "" "" "" "" "0" "" "" "" "" "00025808" "" "" "" "1" "" "01156" "{PMID:Ramos-Trujillo 2007:18184518}" "" "" "" "" "" "0" "" "" "" "" "00025809" "" "" "" "1" "" "01156" "{PMID:Tosetto 2006:16822791}" "" "" "" "" "" "0" "" "" "" "" "00025810" "" "" "" "1" "" "01156" "{PMID:Zhu 2010:20654030}" "" "" "" "" "" "0" "" "" "" "" "00025811" "" "" "" "1" "" "01156" "{PMID:Ramos-Trujillo 2007:17262170}" "" "" "" "" "" "0" "" "" "" "" "00025812" "" "" "" "1" "" "01156" "{PMID:Cheong 2005:15719255}" "" "" "" "" "" "0" "" "" "" "" "00025813" "" "" "" "1" "" "01156" "{PMID:Cho 2008:18038239}" "" "" "" "" "" "0" "" "" "" "" "00025814" "" "" "" "1" "" "01156" "{PMID:Dinour 2009:19546586}" "" "" "" "" "" "0" "" "" "" "" "00025815" "" "" "" "1" "" "01156" "{PMID:Lee 2009:19579036}" "" "" "" "" "" "0" "" "" "" "" "00025816" "" "" "" "1" "" "01156" "{PMID:Li 2009:19076289}" "" "" "" "" "" "0" "" "" "" "" "00025817" "" "" "" "1" "" "01156" "{PMID:Ludwig 2005:15895257}" "" "" "" "" "" "0" "" "" "" "" "00025818" "" "" "" "3" "" "01156" "{PMID:Ludwig 2006:16807762}" "{PMID:Ludwig 2006:16807762}" "M" "" "Germany" "" "0" "" "" "" "FamRPatI1/I2/III1" "00025819" "" "" "" "1" "" "01156" "{PMID:Takemura 2001:11136179}" "" "" "" "" "" "0" "" "" "" "" "00025820" "" "" "" "1" "" "01156" "{PMID:Tosetto 2006:16822791}" "" "" "" "" "" "0" "" "" "" "" "00025821" "" "" "" "1" "" "01156" "{PMID:Tosetto 2009:19673950}" "" "" "" "" "" "0" "" "" "" "" "00025822" "" "" "" "1" "" "01156" "{PMID:Park 2014:24912603}" "" "" "" "" "" "0" "" "" "" "" "00025823" "" "" "" "1" "" "01156" "{PMID:Sekine 2014:24081861}" "" "" "" "Japan" "" "0" "" "" "" "" "00025824" "" "" "" "1" "" "01156" "{PMID:Wu 2009:19546591}" "" "" "" "" "" "0" "" "" "" "" "00025825" "" "" "" "1" "" "01156" "Ramos-Trujillo 2013:Journal of Pediatric Genetics" "" "" "" "" "" "0" "" "" "" "" "00025826" "" "" "" "1" "" "01156" "{PMID:Akuta 1997:9328929}" "" "" "" "" "" "0" "" "" "" "" "00025827" "" "" "" "1" "" "01156" "{PMID:Dinour 2009:19546586}" "" "" "" "" "" "0" "" "" "" "" "00025828" "" "" "" "1" "" "01156" "{PMID:Hoopes 1998:9734595}" "" "" "" "" "" "0" "" "" "" "" "00025829" "" "" "" "1" "" "01156" "{PMID:Matsuyama 2004:15125028}" "" "" "" "" "" "0" "" "" "" "" "00025830" "" "" "" "1" "" "01156" "{PMID:Sekine 2014:24081861}" "" "" "" "Japan" "" "0" "" "" "" "" "00025831" "" "" "" "1" "" "01156" "{PMID:Sekine 2014:24081861}" "" "" "" "Japan" "" "0" "" "" "" "" "00025832" "" "" "" "1" "" "01156" "{PMID:Zhu 2010:20654030}" "" "" "" "" "" "0" "" "" "" "" "00025833" "" "" "" "1" "" "01156" "{PMID:Cox 1999:10469281}" "" "" "" "" "" "0" "" "" "" "" "00025834" "" "" "" "1" "" "01156" "{PMID:Igarashi 1998:9853249}" "" "" "" "" "" "0" "" "" "" "" "00025835" "" "" "" "1" "" "01156" "{PMID:Langlois 1998:9811383}" "" "" "" "" "" "0" "" "" "" "" "00025836" "" "" "" "1" "" "01156" "{PMID:Nakazato 1999:9893114}" "" "" "" "" "" "0" "" "" "" "" "00025837" "" "" "" "1" "" "01156" "{PMID:Ramos-Trujillo 2007:18184518}" "" "" "" "" "" "0" "" "" "" "" "00025838" "" "" "" "1" "" "01156" "{PMID:Sekine 2014:24081861}" "" "" "" "Japan" "" "0" "" "" "" "" "00025839" "" "" "" "1" "" "01156" "Ramos-Trujillo 2013:Journal of Pediatric Genetics" "" "" "" "" "" "0" "" "" "" "" "00025840" "" "" "" "1" "" "01156" "{PMID:Akuta 1997:9328929}" "" "" "" "" "" "0" "" "" "" "" "00025841" "" "" "" "1" "" "01156" "{PMID:Sekine 2014:24081861}" "" "" "" "Japan" "" "0" "" "" "" "" "00025842" "" "" "" "1" "" "01156" "{PMID:Blanchard 2008:18976849}" "" "" "" "" "" "0" "" "" "" "" "00025843" "" "" "" "1" "" "01156" "{PMID:Bosio 1999:10454773}" "" "" "" "" "" "0" "" "" "" "" "00025844" "" "" "" "1" "" "01156" "{PMID:Frishberg 2009:19806368}" "" "" "" "" "" "0" "" "" "" "" "00025845" "" "" "" "1" "" "01156" "{PMID:Igarashi 1998:9853249}" "" "" "" "" "" "0" "" "" "" "" "00025846" "" "" "" "1" "" "01156" "{PMID:Sekine 2014:24081861}" "" "" "" "Japan" "" "0" "" "" "" "" "00025847" "" "" "" "1" "" "01156" "{PMID:Tosetto 2006:16822791}" "" "" "" "" "" "0" "" "" "" "" "00025848" "" "" "" "1" "" "01156" "{PMID:Anglani 2006:16416111}" "" "" "" "" "" "0" "" "" "" "" "00025849" "" "" "" "1" "" "01156" "{PMID:Hoopes 1998:9734595}" "" "" "" "" "" "0" "" "" "" "" "00025850" "" "" "" "1" "" "01156" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat2" "00025851" "" "" "" "1" "" "01156" "{PMID:Kelleher 1998:9452997}" "" "" "" "" "" "0" "" "" "" "" "00025852" "" "" "" "1" "" "01156" "{PMID:Ludwig 2006:16807762}" "" "" "" "Turkey" "" "0" "" "" "" "F1" "00025853" "" "" "" "1" "" "01156" "{PMID:Oudet 1997:9187673}" "" "" "" "" "" "0" "" "" "" "" "00025854" "" "" "" "1" "" "01156" "{PMID:Tosetto 2006:16822791}" "" "" "" "" "" "0" "" "" "" "" "00032352" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "" "" "France" "" "0" "" "" "" "Dent132-1" "00032353" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "" "Senegal" "" "0" "" "" "" "Dent165-1" "00032354" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "" "Algeria" "" "0" "" "" "" "Dent200-1" "00032355" "" "" "" "1" "" "01156" "{PMID:Sheffer-Babila 2008:18540256}" "" "M" "" "" "" "0" "" "" "" "" "00032356" "" "" "" "1" "" "01156" "{PMID:Lim 2007:17982249}" "" "M" "" "Korea" "" "0" "" "" "" "" "00032357" "" "" "" "1" "" "01156" "{PMID:Fervenza 2013:23886564}" "" "M" "" "" "" "0" "" "" "" "" "00032358" "" "" "" "1" "" "01156" "{PMID:Cramer 2014:24810952}" "" "M" "" "" "" "0" "" "" "" "" "00032359" "" "" "" "1" "" "01156" "{PMID:Cramer 2014:24810952}" "" "M" "" "" "" "0" "" "" "" "" "00032360" "" "" "" "1" "" "01156" "{PMID:Cramer 2014:24810952}" "" "M" "" "" "" "0" "" "" "" "" "00032361" "" "" "" "1" "" "01156" "{PMID:Cramer 2014:24810952}" "" "M" "" "" "" "0" "" "" "" "" "00032362" "" "" "" "1" "" "01156" "{PMID:Cramer 2014:24810952}" "" "M" "" "" "" "0" "" "" "" "" "00032363" "" "" "" "1" "" "01156" "{PMID:Cramer 2014:24810952}" "" "M" "" "" "" "0" "" "" "" "" "00032364" "" "" "" "1" "" "01156" "{PMID:Akuta 1997:9328929}" "" "M" "no" "Japan" "" "0" "" "" "" "" "00032365" "" "" "" "1" "" "01156" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "" "00032366" "" "" "" "1" "" "01156" "{PMID:Tosetto 2006:16822791}" "" "M" "" "Cape Verde" "" "0" "" "" "" "" "00032367" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "" "Comoros" "" "0" "" "" "" "Dent010-1" "00032368" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "" "France" "" "0" "" "" "" "Dent117-1" "00032369" "" "" "" "1" "" "01156" "{PMID:Forino 2004:14673707}" "" "M" "" "" "" "0" "" "" "" "" "00032374" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "" "Guadeloupe" "" "0" "" "" "" "Dent153-1" "00032375" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "" "Viet Nam" "" "0" "" "" "" "Dent118-1" "00032376" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "" "France" "" "0" "" "" "" "Dent017-1" "00032377" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "" "France" "" "0" "" "" "" "Dent110-1" "00032378" "" "" "" "1" "" "01156" "{PMID:Mansour-Hendili 2015:25907713}" "" "M" "" "France" "" "0" "" "" "" "Dent100-1" "00032379" "" "" "" "1" "" "01156" "{PMID:Tosetto 2009:19673950}" "" "M" "" "Italy" "" "0" "" "" "" "" "00074396" "" "" "" "1" "" "01606" "{PMID:Ji 2014:25124980}, {DOI:Ji 2014:10.1007/s12519-014-0504-y}" "" "M" "" "China" ">08y" "" "" "" "" "25124980 pt.1" "00295074" "" "" "" "119" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305312" "" "" "" "71" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308004" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00328811" "" "" "" "1" "" "01156" "{PMID:Bogdanovic 2010:20680351}" "" "M" "no" "Serbia" "" "0" "" "" "" "" "00328812" "" "" "" "1" "" "01156" "{PMID:Sekine 2014:24081861}" "" "M" "?" "Japan" "" "0" "" "" "" "" "00328813" "" "" "" "1" "" "01156" "{PMID:Ashton 2018:29398133}" "" "M" "?" "" "" "0" "" "" "" "" "00328814" "" "" "" "1" "" "01156" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat6" "00328815" "" "" "" "1" "" "01156" "{PMID:Sekine 2014:24081861}" "" "M" "" "Japan" "" "0" "" "" "" "" "00396997" "" "" "" "2" "" "00006" "{PMID:Guven 2017:28383812}" "family, 2 affected (mother/son)" "F" "" "Turkey" "" "0" "" "" "" "FamVPat2" "00396998" "" "" "00396997" "1" "" "00006" "{PMID:Guven 2017:28383812}" "son" "M" "" "Turkey" "" "0" "" "" "" "FamVPat3" "00414369" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP36" "00477218" "" "" "" "1" "" "00006" "{PMID:Lyu 2026:42006202}" "" "M" "" "China" "" "0" "" "" "" "Pat1" "00477219" "" "" "" "1" "" "00006" "{PMID:Lyu 2026:42006202}" "" "M" "" "China" "" "0" "" "" "" "Pat2" "00477220" "" "" "" "1" "" "00006" "{PMID:Lyu 2026:42006202}" "" "M" "" "China" "" "0" "" "" "" "Pat3" "00477221" "" "" "" "1" "" "00006" "{PMID:Lyu 2026:42006202}" "" "M" "" "China" "" "0" "" "" "" "Pat4" "00477230" "" "" "" "1" "" "00006" "{PMID:Mansour-Hendili 2015:25907713}" "" "" "" "" "" "0" "" "" "" "Dent195-1" "00477231" "" "" "" "1" "" "00006" "{PMID:Mansour-Hendili 2015:25907713}" "" "" "" "" "" "0" "" "" "" "Dent208-1" "00477232" "" "" "" "1" "" "00006" "{PMID:Mansour-Hendili 2015:25907713}" "" "" "" "" "" "0" "" "" "" "Dent202-1" "00477233" "" "" "" "1" "" "00006" "{PMID:Mansour-Hendili 2015:25907713}" "" "" "" "" "" "0" "" "" "" "Dent203-1" "00477234" "" "" "" "1" "" "00006" "{PMID:Mansour-Hendili 2015:25907713}" "" "" "" "" "" "0" "" "" "" "Dent210-1" "00477235" "" "" "" "1" "" "00006" "{PMID:Mansour-Hendili 2015:25907713}" "" "" "" "" "" "0" "" "" "" "Dent196-1" "00477236" "" "" "" "1" "" "00006" "{PMID:Mansour-Hendili 2015:25907713}" "" "" "" "" "" "0" "" "" "" "Dent181-1" "00477239" "" "" "" "1" "" "00006" "{PMID:Ludwig 2006:16807762}" "patient" "M" "" "Turkey" "" "0" "" "" "" "A1" "00477240" "" "" "" "1" "" "00006" "{PMID:Ludwig 2006:16807762}" "patient" "M" "" "Germany" "" "0" "" "" "" "B1" "00477241" "" "" "" "3" "" "00006" "{PMID:Ludwig 2006:16807762}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "FamCPatI1/II1/II2" "00477242" "" "" "" "1" "" "00006" "{PMID:Ludwig 2006:16807762}" "patient" "M" "" "Germany" "" "0" "" "" "" "D1" "00477243" "" "" "" "1" "" "00006" "{PMID:Ludwig 2006:16807762}" "patient" "M" "" "Germany" "" "0" "" "" "" "E1" "00477244" "" "" "" "2" "" "00006" "{PMID:Ludwig 2006:16807762}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "FamGPatI1/I2" "00477245" "" "" "" "4" "" "00006" "{PMID:Ludwig 2006:16807762}" "family, 4 affected" "M" "" "Austria" "" "0" "" "" "" "FamHPatI4/I5/II2/III1" "00477246" "" "" "" "4" "" "00006" "{PMID:Ludwig 2006:16807762}" "family, 4 affected" "M" "" "Finland" "" "0" "" "" "" "FamIPatI3/I5/II3/II5" "00477247" "" "" "" "1" "" "00006" "{PMID:Ludwig 2006:16807762}" "patient" "M" "" "Turkey" "" "0" "" "" "" "J1" "00477248" "" "" "" "1" "" "00006" "{PMID:Ludwig 2006:16807762}" "patient" "M" "" "Turkey" "" "0" "" "" "" "K1" "00477249" "" "" "" "3" "" "00006" "{PMID:Ludwig 2006:16807762}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "FamLPatI1/I2/I3" "00477250" "" "" "" "2" "" "00006" "{PMID:Ludwig 2006:16807762}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "FamMPatI1/I2" "00477251" "" "" "" "2" "" "00006" "{PMID:Ludwig 2006:16807762}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "FamPatOI1/III1" "00477252" "" "" "" "1" "" "00006" "{PMID:Ludwig 2006:16807762}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Finland" "" "0" "" "" "" "P1" "00477253" "" "" "" "1" "" "00006" "{PMID:Ludwig 2006:16807762}" "patient" "M" "" "Germany" "" "0" "" "" "" "Q1" "00477254" "" "" "" "1" "" "00006" "{PMID:Ludwig 2006:16807762}" "patient" "M" "" "Germany" "" "0" "" "" "" "S1" "00477256" "" "" "" "1" "" "00006" "{PMID:Yasar 2024:39582457}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat1" "00477257" "" "" "" "1" "" "00006" "{PMID:Yasar 2024:39582457}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat2" "00477299" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477300" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00478034" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat3" "00478035" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat4" "00478036" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat5" "00478037" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat7" "00478038" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat8" "00478039" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat10" "00478040" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat12" "00478041" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat13" "00478042" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat14" "00478043" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "Germany" "" "0" "" "" "" "Pat16" "00478044" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat18" "00478045" "" "" "" "1" "" "00006" "{PMID:Hoopes 2004:15086899}" "" "M" "" "United States" "" "0" "" "" "" "Pat19" "00478046" "" "" "" "2" "" "00006" "{PMID:Tang 2016:27117801}" "" "M" "" "United States" "" "0" "" "" "" "FamIPata" "00478047" "" "" "00478046" "1" "" "00006" "{PMID:Tang 2016:27117801}" "" "M" "" "United States" "" "0" "" "" "" "FamIPatb" "00478048" "" "" "" "1" "" "00006" "{PMID:Tang 2016:27117801}" "" "M" "" "United States" "" "0" "" "" "" "FamII" "00478049" "" "" "" "1" "" "00006" "{PMID:Tang 2016:27117801}" "" "M" "" "United States" "" "0" "" "" "" "FamIII" "00478050" "" "" "" "1" "" "00006" "{PMID:Tang 2016:27117801}" "" "M" "" "United States" "" "0" "" "" "" "FamIV" "00478051" "" "" "" "1" "" "00006" "{PMID:Tang 2016:27117801}" "" "M" "" "United States" "" "0" "" "" "" "control" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 294 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00025648" "00249" "00025649" "00249" "00025650" "00249" "00025651" "00249" "00025652" "00249" "00025653" "00249" "00025654" "00249" "00025655" "00249" "00025656" "00249" "00025657" "00249" "00025658" "00249" "00025659" "00249" "00025660" "00249" "00025661" "00249" "00025662" "00249" "00025663" "00249" "00025664" "00249" "00025665" "00249" "00025666" "00249" "00025667" "00249" "00025668" "00249" "00025669" "00249" "00025670" "00249" "00025671" "00249" "00025672" "00249" "00025673" "00249" "00025674" "00249" "00025675" "00249" "00025676" "00249" "00025677" "00249" "00025678" "00249" "00025679" "00249" "00025680" "00249" "00025681" "00249" "00025682" "00249" "00025683" "00249" "00025684" "00249" "00025685" "00249" "00025686" "00249" "00025687" "00249" "00025688" "00249" "00025689" "00249" "00025690" "00249" "00025691" "00249" "00025692" "00249" "00025693" "00249" "00025694" "00249" "00025695" "00249" "00025696" "00249" "00025697" "00249" "00025698" "00249" "00025699" "00249" "00025700" "00249" "00025701" "00249" "00025702" "00249" "00025703" "00249" "00025704" "00249" "00025705" "00249" "00025706" "00249" "00025707" "00249" "00025708" "00249" "00025709" "00249" "00025710" "00249" "00025711" "00249" "00025712" "00249" "00025713" "00249" "00025714" "00249" "00025715" "00249" "00025716" "00249" "00025717" "00249" "00025718" "00249" "00025719" "00249" "00025720" "00249" "00025721" "00249" "00025722" "00249" "00025723" "00249" "00025724" "00249" "00025725" "00249" "00025726" "00249" "00025727" "00249" "00025728" "00249" "00025729" "00249" "00025730" "00249" "00025731" "00249" "00025732" "00249" "00025733" "00249" "00025734" "00251" "00025735" "00249" "00025736" "00250" "00025737" "00251" "00025738" "00249" "00025739" "00249" "00025740" "00249" "00025741" "00249" "00025742" "00249" "00025743" "00252" "00025744" "00252" "00025745" "00252" "00025746" "00252" "00025747" "00251" "00025748" "00251" "00025749" "00251" "00025750" "00251" "00025751" "00251" "00025752" "00250" "00025753" "00251" "00025754" "00249" "00025755" "00249" "00025756" "00249" "00025757" "00249" "00025758" "00249" "00025759" "00249" "00025760" "00249" "00025761" "00249" "00025762" "00249" "00025763" "00249" "00025764" "00249" "00025765" "00249" "00025766" "00249" "00025767" "00249" "00025768" "00249" "00025769" "00249" "00025770" "00249" "00025771" "00187" "00025772" "00187" "00025773" "00249" "00025774" "00249" "00025775" "00249" "00025776" "00249" "00025777" "00249" "00025778" "00249" "00025779" "00249" "00025780" "00249" "00025781" "00249" "00025782" "00249" "00025783" "00249" "00025784" "00249" "00025785" "00249" "00025786" "00249" "00025787" "00249" "00025788" "00249" "00025789" "00249" "00025790" "00249" "00025791" "00249" "00025792" "00249" "00025793" "00249" "00025794" "00249" "00025795" "00249" "00025796" "00249" "00025797" "00249" "00025798" "00249" "00025799" "00249" "00025800" "00249" "00025801" "00249" "00025802" "00249" "00025803" "00249" "00025804" "00249" "00025805" "00249" "00025806" "00249" "00025807" "00249" "00025808" "00249" "00025809" "00249" "00025810" "00249" "00025811" "00249" "00025812" "00249" "00025813" "00249" "00025814" "00249" "00025815" "00249" "00025816" "00249" "00025817" "00249" "00025818" "00249" "00025819" "00249" "00025820" "00249" "00025821" "00249" "00025822" "00249" "00025823" "00249" "00025824" "00249" "00025825" "00249" "00025826" "00249" "00025827" "00249" "00025828" "00249" "00025829" "00249" "00025830" "00249" "00025831" "00249" "00025832" "00249" "00025833" "00249" "00025834" "00249" "00025835" "00249" "00025836" "00249" "00025837" "00249" "00025838" "00249" "00025839" "00249" "00025840" "00249" "00025841" "00249" "00025842" "00249" "00025843" "00249" "00025844" "00249" "00025845" "00249" "00025846" "00249" "00025847" "00249" "00025848" "00249" "00025849" "00249" "00025850" "00249" "00025851" "00249" "00025852" "00249" "00025853" "00249" "00025854" "00249" "00032352" "00249" "00032353" "00249" "00032354" "00249" "00032355" "00249" "00032356" "00249" "00032357" "00249" "00032358" "00249" "00032359" "00249" "00032360" "00249" "00032361" "00249" "00032362" "00249" "00032363" "00249" "00032364" "00249" "00032365" "00000" "00032366" "00249" "00032367" "00249" "00032368" "00249" "00032369" "00249" "00032374" "00249" "00032375" "00249" "00032376" "00249" "00032377" "00249" "00032378" "00249" "00032379" "00249" "00074396" "00249" "00295074" "00198" "00305312" "00198" "00308004" "00198" "00328811" "00249" "00328812" "00249" "00328813" "00249" "00328814" "00249" "00328815" "00249" "00396997" "02241" "00396998" "02241" "00414369" "00198" "00477218" "00249" "00477219" "00249" "00477220" "00249" "00477221" "00249" "00477230" "00249" "00477231" "00249" "00477232" "00249" "00477233" "00249" "00477234" "00249" "00477235" "00249" "00477236" "00249" "00477239" "00252" "00477240" "00252" "00477241" "00252" "00477242" "00252" "00477243" "00252" "00477244" "00252" "00477245" "00252" "00477246" "00252" "00477247" "00252" "00477248" "00252" "00477249" "00252" "00477250" "00252" "00477251" "00252" "00477252" "00252" "00477253" "00252" "00477254" "00252" "00477256" "00249" "00477257" "00249" "00477299" "06886" "00477300" "06886" "00478034" "00249" "00478035" "00249" "00478036" "00249" "00478037" "00249" "00478038" "00249" "00478039" "00249" "00478040" "00249" "00478041" "00249" "00478042" "00249" "00478043" "00249" "00478044" "00249" "00478045" "00249" "00478046" "00249" "00478047" "00249" "00478048" "00249" "00478049" "00249" "00478050" "00249" "00478051" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00187, 00198, 00249, 00250, 00251, 00252, 01157, 02241, 04154, 06886 ## Count = 285 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000021765" "00385" "00025648" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021766" "00249" "00025649" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021767" "00249" "00025651" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021768" "00249" "00025652" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021769" "00249" "00025653" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021770" "00249" "00025654" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021771" "00249" "00025655" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021772" "00249" "00025656" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021773" "00249" "00025657" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021774" "00249" "00025658" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021775" "00249" "00025659" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021776" "00249" "00025660" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021777" "00249" "00025661" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021778" "00249" "00025662" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021779" "00249" "00025663" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021780" "00249" "00025664" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021781" "00249" "00025665" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021782" "00249" "00025666" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021783" "00249" "00025650" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021784" "00249" "00025667" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021785" "00249" "00025668" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021786" "00249" "00025669" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021787" "00249" "00025670" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021788" "00249" "00025671" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021789" "00249" "00025672" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021790" "00249" "00025673" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021791" "00249" "00025674" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021792" "00249" "00025675" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021793" "00249" "00025676" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021794" "00249" "00025677" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021795" "00249" "00025678" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021796" "00249" "00025679" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021797" "00249" "00025680" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021798" "00249" "00025681" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021799" "00249" "00025682" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021800" "00249" "00025683" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021801" "00249" "00025684" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021802" "00249" "00025685" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021803" "00249" "00025686" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021804" "00249" "00025687" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021805" "00249" "00025688" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021806" "00249" "00025689" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021807" "00249" "00025690" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021808" "00249" "00025691" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021809" "00249" "00025692" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021810" "00249" "00025693" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021811" "00249" "00025694" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021812" "00249" "00025695" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021813" "00249" "00025696" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021814" "00249" "00025697" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021815" "00249" "00025698" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021816" "00249" "00025699" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021817" "00249" "00025700" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021818" "00249" "00025701" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021819" "00249" "00025702" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021820" "00249" "00025704" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021821" "00249" "00025705" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021822" "00249" "00025706" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021823" "00249" "00025707" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021824" "00249" "00025708" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021825" "00249" "00025709" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021826" "00249" "00025710" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021827" "00249" "00025711" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021828" "00249" "00025712" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021829" "00249" "00025713" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021830" "00249" "00025714" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021831" "00249" "00025715" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021832" "00249" "00025716" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021833" "00249" "00025717" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021834" "00249" "00025718" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021835" "00249" "00025719" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021836" "00249" "00025720" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021837" "00249" "00025721" "01156" "Paternal, Y-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021838" "00249" "00025722" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021839" "00249" "00025723" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021840" "00249" "00025724" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021841" "00249" "00025725" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021842" "00249" "00025726" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021843" "00249" "00025727" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021844" "00249" "00025728" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021845" "00249" "00025729" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021846" "00249" "00025730" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021847" "00249" "00025731" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021848" "00249" "00025732" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021849" "00249" "00025733" "01156" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021850" "00251" "00025734" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021851" "00249" "00025735" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021852" "00250" "00025736" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021853" "00251" "00025737" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021854" "00249" "00025738" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021855" "00249" "00025739" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021856" "00249" "00025740" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021857" "00249" "00025741" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021858" "00249" "00025742" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021859" "00252" "00025743" "00006" "Familial" "" "see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis" "" "" "" "" "" "" "" "" "" "" "" "" "0000021860" "00252" "00025744" "00006" "Isolated (sporadic)" "" "see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis" "" "" "" "" "" "" "" "" "" "" "" "" "0000021861" "00252" "00025745" "00006" "Familial" "" "see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis" "" "" "" "" "" "" "" "" "" "" "" "" "0000021862" "00252" "00025746" "00006" "Isolated (sporadic)" "" "see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis" "" "" "" "" "" "" "" "" "" "" "" "" "0000021863" "00251" "00025747" "00006" "Isolated (sporadic)" "" "multiple proximal renal tubular defects, nephrocalcinosis, nephrolithiasis, renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "0000021864" "00251" "00025748" "00006" "Familial" "" "multiple proximal renal tubular defects, nephrocalcinosis, nephrolithiasis, renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "0000021865" "00251" "00025749" "00006" "Isolated (sporadic)" "" "multiple proximal renal tubular defects, nephrocalcinosis, nephrolithiasis, renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "0000021866" "00251" "00025750" "00006" "Isolated (sporadic)" "" "multiple proximal renal tubular defects, nephrocalcinosis, nephrolithiasis, renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "0000021867" "00251" "00025751" "01156" "Familial" "" "multiple proximal renal tubular defects, nephrocalcinosis, nephrolithiasis, renal failure" "" "" "" "" "" "" "" "" "" "" "" "" "0000021868" "00250" "00025752" "00006" "Familial, X-linked recessive" "" "see paper; no nephrolithiasis, no nephrocalcinos, young age at onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000021869" "00251" "00025753" "00006" "Familial, X-linked recessive" "" "see paper; referred for microhematuria and proteinuria noted on screening urinalysis" "" "" "" "" "" "" "" "" "" "" "" "" "0000021870" "00249" "00025754" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021871" "00249" "00025755" "00006" "Familial" "" "see paper; end-stage renal disease, renal stones" "" "" "" "" "" "" "" "" "" "" "" "" "0000021872" "00249" "00025756" "00006" "Familial" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021873" "00249" "00025757" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021874" "00249" "00025758" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021875" "00249" "00025759" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021876" "00249" "00025760" "00006" "Familial" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021877" "00249" "00025761" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021878" "00249" "00025762" "00006" "Familial" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021879" "00249" "00025763" "00006" "Familial" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021880" "00249" "00025764" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021881" "00249" "00025765" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021882" "00249" "00025766" "00006" "Familial" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021883" "00249" "00025767" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021884" "00249" "00025768" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021885" "00249" "00025769" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021886" "00249" "00025770" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021887" "00187" "00025771" "00124" "Familial, X-linked recessive" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "" "" "" "" "" "" "" "" "0000021888" "00187" "00025772" "00124" "Familial, X-linked recessive" "" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "" "" "" "" "" "" "" "" "" "0000021889" "00249" "00025773" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021890" "00249" "00025774" "01156" "Unknown" "17y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000021891" "00249" "00025775" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021892" "00249" "00025776" "01156" "Unknown" "24y" "LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones" "" "" "" "" "" "" "" "" "" "" "hypercalciuria" "" "0000021893" "00249" "00025777" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021894" "00249" "00025778" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021895" "00249" "00025779" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021896" "00249" "00025780" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021897" "00249" "00025781" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021898" "00249" "00025782" "01156" "Unknown" "05y06m" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000021899" "00249" "00025783" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021900" "00249" "00025784" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021901" "00249" "00025785" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021902" "00249" "00025786" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021903" "00249" "00025787" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021904" "00249" "00025788" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021905" "00249" "00025789" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021906" "00249" "00025790" "01156" "Unknown" "04y06m" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000021907" "00249" "00025791" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021908" "00249" "00025792" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021909" "00249" "00025793" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021910" "00249" "00025794" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021911" "00249" "00025795" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021912" "00249" "00025796" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021913" "00249" "00025797" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021914" "00249" "00025798" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021915" "00249" "00025799" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021916" "00249" "00025800" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021917" "00249" "00025801" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021918" "00249" "00025802" "01156" "Unknown" "06y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000021919" "00249" "00025803" "01156" "Unknown" "15y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000021920" "00249" "00025804" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021921" "00249" "00025805" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021922" "00249" "00025806" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021923" "00249" "00025807" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021924" "00249" "00025808" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021925" "00249" "00025809" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021926" "00249" "00025810" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021927" "00249" "00025811" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021928" "00249" "00025812" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021929" "00249" "00025813" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021930" "00249" "00025814" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021931" "00249" "00025815" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021932" "00249" "00025816" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021933" "00249" "00025817" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021934" "00249" "00025818" "01156" "Familial, X-linked recessive" "" "LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones, glomerular filtration rate <30 ml/min per 1.73 m2 or transplantation (1/3)" "" "" "" "" "" "" "" "" "" "" "hypercalciuria" "" "0000021935" "00249" "00025819" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021936" "00249" "00025820" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021937" "00249" "00025821" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021938" "00249" "00025822" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021939" "00249" "00025823" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021940" "00249" "00025824" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021941" "00249" "00025825" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021942" "00249" "00025826" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021943" "00249" "00025827" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021944" "00249" "00025828" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021945" "00249" "00025829" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021946" "00249" "00025830" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021947" "00249" "00025831" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021948" "00249" "00025832" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021949" "00249" "00025833" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021950" "00249" "00025834" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021951" "00249" "00025835" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021952" "00249" "00025836" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021953" "00249" "00025837" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021954" "00249" "00025838" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021955" "00249" "00025839" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021956" "00249" "00025840" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021957" "00249" "00025841" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021958" "00249" "00025842" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021959" "00249" "00025843" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021960" "00249" "00025844" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021961" "00249" "00025845" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021962" "00249" "00025846" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021963" "00249" "00025847" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021964" "00249" "00025848" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021965" "00249" "00025849" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021966" "00249" "00025850" "01156" "Unknown" "13y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000021967" "00249" "00025851" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021968" "00249" "00025852" "01156" "Isolated (sporadic)" "07y" "LMW proteinuria, glomerular filtration rate 30–80 ml/min per 1.73 m2" "" "" "" "" "" "" "" "" "" "" "hypercalciuria" "" "0000021969" "00249" "00025853" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021970" "00249" "00025854" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000025820" "00249" "00032352" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025821" "00249" "00032353" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025822" "00249" "00032354" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025823" "00249" "00032355" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025824" "00249" "00032356" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025825" "00249" "00032357" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025826" "00249" "00032358" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025827" "00249" "00032359" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025828" "00249" "00032360" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025829" "00249" "00032361" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025830" "00249" "00032362" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025831" "00249" "00032363" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025832" "00249" "00032364" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025834" "00249" "00032366" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025835" "00249" "00032367" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025836" "00249" "00032368" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025837" "00249" "00032369" "01156" "Familial, X-linked recessive" "" "see paper; ..., hypercalciuria, bilateral nephrolithiasis, no proteinuria" "" "" "" "" "" "" "" "" "" "DENT1" "26y" "" "0000025842" "00249" "00032374" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025843" "00249" "00032375" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025844" "00249" "00032376" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025845" "00249" "00032377" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025846" "00249" "00032378" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025847" "00249" "00032379" "01156" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000054214" "00249" "00074396" "01606" "Familial, X-linked recessive" "08y" "Proteinuria (HP:0000093), no edema (-HP:0000969), no oliguria (-HP:0100520), no microscopic hematuria (-HP:0002907), no hypertension (-HP:0000822), Hypercalciuria (HP:0002150)," "08y" "" "08y" "" "" "" "" "" "" "" "" "" "0000233427" "00198" "00308004" "01164" "Unknown" "" "Hyperoxaluria (HP:0003159)" "" "" "" "" "" "" "" "" "" "" "" "" "0000290152" "02241" "00396997" "00006" "Familial, X-linked" "40y" "see paper; ..., normal 9treated)" "" "" "" "" "" "" "" "" "" "" "hypophosphatemic rickets" "" "0000290153" "02241" "00396998" "00006" "Familial, X-linked" "15y" "see paper; ..., bowed legs" "" "" "" "" "" "" "" "" "" "" "hypophosphatemic rickets" "" "0000306204" "00198" "00414369" "00000" "Familial, X-linked recessive" "12y" "" "" "" "" "" "" "" "" "" "" "Dent Disease 1" "" "" "0000361828" "00249" "00477218" "00006" "Unknown" "" "see paper; ...,proteinuric CKD, Focal global glomerulosclerosis, tubular atrophy, interstitial fibrosis, proteinuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000361829" "00249" "00477219" "00006" "Unknown" "" "see paper; ..., no nephrolithiasis, significantlow molecular weight proteinuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000361830" "00249" "00477220" "00006" "Unknown" "" "see paper; ..., low molecular weight proteinuria; bilateral medullary nephrocalcinosis (never passed stones)" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000361831" "00249" "00477221" "00006" "Unknown" "" "see paper; ..., high B2 microglobulins; nephrocalcinosis; multiple kidney stones" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000361840" "00249" "00477230" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DENT1" "" "" "0000361841" "00249" "00477231" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DENT1" "" "" "0000361842" "00249" "00477232" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DENT1" "" "" "0000361843" "00249" "00477233" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DENT1" "" "" "0000361844" "00249" "00477234" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DENT1" "" "" "0000361845" "00249" "00477235" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DENT1" "" "" "0000361846" "00249" "00477236" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "DENT1" "" "" "0000361849" "00252" "00477239" "00006" "Unknown" "13y" "LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones, glomerular filtration rate 30–80 ml/min per 1.73 m2" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361850" "00252" "00477240" "00006" "Unknown" "7y" "LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361851" "00252" "00477241" "00006" "Familial, X-linked recessive" "" "LMW proteinuria (3/3), hypercalciuria (1/3), nephrocalcinosis and/or stones (1/3), glomerular filtration rate <30 ml/min per 1.73 m2 or transplantation (1/3)" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361852" "00252" "00477242" "00006" "Unknown" "20y" "LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361853" "00252" "00477243" "00006" "Unknown" "10y" "LMW proteinuria, nephrocalcinosis and/or stones" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361854" "00252" "00477244" "00006" "Familial, X-linked recessive" "" "LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361855" "00252" "00477245" "00006" "Familial, X-linked recessive" "" "LMW proteinuria (4/4), hypercalciuria (1/4), nephrocalcinosis and/or stones (4/4), glomerular filtration rate 30–80 ml/min per 1.73 m2 (1/4), glomerular filtration rate <30 ml/min per 1.73 m2 or transplantation (1/4)" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361856" "00252" "00477246" "00006" "Familial, X-linked recessive" "" "LMW proteinuria (4/4), hypercalciuria (4/4), nephrocalcinosis and/or stones (4/4), glomerular filtration rate 30–80 ml/min per 1.73 m2 (1/4)" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361857" "00252" "00477247" "00006" "Unknown" "4y" "LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361858" "00252" "00477248" "00006" "Unknown" "14y" "LMW proteinuria, nephrocalcinosis and/or stones" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361859" "00252" "00477249" "00006" "Familial, X-linked recessive" "" "LMW proteinuria (3/3), hypercalciuria (1/3), nephrocalcinosis and/or stones (2/3)" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361860" "00252" "00477250" "00006" "Familial, X-linked recessive" "" "LMW proteinuria, hypercalciuria, nephrocalcinosis and/or stones" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361861" "00252" "00477251" "00006" "Familial, X-linked recessive" "" "LMW proteinuria (2/2), nephrocalcinosis and/or stones (2/2), glomerular filtration rate <30 ml/min per 1.73 m2 or transplantation (1/2)" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361862" "00252" "00477252" "00006" "Isolated (sporadic)" "8y" "LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361863" "00252" "00477253" "00006" "Unknown" "14y" "LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361864" "00252" "00477254" "00006" "Unknown" "9y" "LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "hypercalciuria" "" "0000361866" "00249" "00477256" "00006" "Unknown" "02y06m" "see paper; ..." "00y00m22d" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000361867" "00249" "00477257" "00006" "Unknown" "07y" "see paper; ..." "04y" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000361909" "06886" "00477299" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" "0000361910" "06886" "00477300" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" "0000362644" "00249" "00328814" "00006" "Unknown" "06y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362645" "00249" "00478034" "00006" "Unknown" "7y6m" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362646" "00249" "00478035" "00006" "Unknown" "10y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362647" "00249" "00478036" "00006" "Unknown" "39y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362648" "00249" "00478037" "00006" "Unknown" "3y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362649" "00249" "00478038" "00006" "Unknown" "16y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362650" "00249" "00478039" "00006" "Unknown" "13y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362651" "00249" "00478040" "00006" "Unknown" "18y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362652" "00249" "00478041" "00006" "Unknown" "2y6m" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362653" "00249" "00478042" "00006" "Unknown" "13y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362654" "00249" "00478043" "00006" "Unknown" "2y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362655" "00249" "00478044" "00006" "Unknown" "6y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362656" "00249" "00478045" "00006" "Unknown" "12y" "see paper; ..., LMW proteinuria, hypercalciuria" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362657" "00249" "00478046" "00006" "Unknown" "" "see paper; ..., low molecular weight proteinuria; rickets; hypercalciuria; kidney stone; no nephrocalcinosis" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362658" "00249" "00478047" "00006" "Unknown" "" "see paper; ..., low molecular weight proteinuria; no rickets; hypercalciuria; no kidney stone; no nephrocalcinosis" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362659" "00249" "00478048" "00006" "Unknown" "" "see paper; ..., low molecular weight proteinuria; no rickets; hypercalciuria; no kidney stone; nephrocalcinosis" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362660" "00249" "00478049" "00006" "Unknown" "" "see paper; ..., low molecular weight proteinuria; no rickets; no hypercalciuria; no kidney stone; no nephrocalcinosis" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" "0000362661" "00249" "00478050" "00006" "Unknown" "" "see paper; ..., low molecular weight proteinuria; no rickets; no hypercalciuria; no kidney stone; no nephrocalcinosis" "" "" "" "" "" "" "" "" "" "DENT1" "Dent disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 294 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000025652" "00025648" "1" "01156" "01156" "2014-12-03 11:23:50" "" "" "SEQ" "DNA" "" "" "0000025653" "00025649" "1" "01156" "01156" "2014-12-03 11:43:13" "" "" "SEQ" "DNA" "" "" "0000025654" "00025650" "1" "01156" "01156" "2014-12-03 14:08:16" "" "" "SEQ" "DNA" "" "" "0000025655" "00025651" "1" "01156" "01156" "2014-12-03 15:31:09" "" "" "SEQ" "DNA" "" "" "0000025656" "00025652" "1" "01156" "01156" "2014-12-03 15:44:12" "" "" "SEQ" "DNA" "" "" "0000025657" "00025653" "1" "01156" "01156" "2014-12-03 15:49:56" "" "" "SEQ" "DNA" "" "" "0000025658" "00025654" "1" "01156" "01156" "2014-12-03 15:58:12" "" "" "SEQ" "DNA" "" "" "0000025659" "00025655" "1" "01156" "01156" "2014-12-03 16:07:57" "" "" "SEQ" "DNA" "" "" "0000025660" "00025656" "1" "01156" "01156" "2014-12-03 16:13:19" "" "" "SEQ" "DNA" "" "" "0000025661" "00025657" "1" "01156" "01156" "2014-12-03 16:43:06" "" "" "SEQ" "DNA" "" "" "0000025662" "00025658" "1" "01156" "01156" "2014-12-03 16:50:48" "" "" "SEQ" "DNA" "" "" "0000025663" "00025659" "1" "01156" "01156" "2014-12-03 16:55:28" "" "" "SEQ" "DNA" "" "" "0000025664" "00025660" "1" "01156" "01156" "2014-12-03 16:59:53" "" "" "SEQ" "DNA" "" "" "0000025665" "00025661" "1" "01156" "01156" "2014-12-03 17:04:41" "" "" "SEQ" "DNA" "" "" "0000025666" "00025662" "1" "01156" "01156" "2014-12-03 17:09:46" "" "" "SEQ" "DNA" "" "" "0000025667" "00025663" "1" "01156" "01156" "2014-12-03 17:14:33" "" "" "SEQ" "DNA" "" "" "0000025668" "00025664" "1" "01156" "01156" "2014-12-03 17:18:49" "" "" "SEQ" "DNA" "" "" "0000025669" "00025665" "1" "01156" "01156" "2014-12-03 17:23:13" "" "" "SEQ" "DNA" "" "" "0000025670" "00025666" "1" "01156" "01156" "2014-12-03 17:26:02" "" "" "SEQ" "DNA" "" "" "0000025671" "00025667" "1" "01156" "01156" "2014-12-03 17:36:17" "" "" "SEQ" "DNA" "" "" "0000025672" "00025668" "1" "01156" "01156" "2014-12-03 17:40:37" "" "" "SEQ" "DNA" "" "" "0000025673" "00025669" "1" "01156" "01156" "2014-12-03 17:43:51" "" "" "SEQ" "DNA" "" "" "0000025674" "00025670" "1" "01156" "01156" "2014-12-03 17:46:36" "" "" "SEQ" "DNA" "" "" "0000025675" "00025671" "1" "01156" "01156" "2014-12-03 17:50:05" "" "" "SEQ" "DNA" "" "" "0000025676" "00025672" "1" "01156" "01156" "2014-12-03 17:53:35" "" "" "SEQ" "DNA" "" "" "0000025677" "00025673" "1" "01156" "01156" "2014-12-03 17:56:24" "" "" "SEQ" "DNA" "" "" "0000025678" "00025674" "1" "01156" "01156" "2014-12-03 17:59:34" "" "" "SEQ" "DNA" "" "" "0000025679" "00025675" "1" "01156" "01156" "2014-12-03 18:01:50" "" "" "SEQ" "DNA" "" "" "0000025680" "00025676" "1" "01156" "01156" "2014-12-03 18:03:58" "" "" "SEQ" "DNA" "" "" "0000025681" "00025677" "1" "01156" "01156" "2014-12-03 18:06:06" "" "" "SEQ" "DNA" "" "" "0000025682" "00025678" "1" "01156" "01156" "2014-12-03 18:08:02" "" "" "SEQ" "DNA" "" "" "0000025683" "00025679" "1" "01156" "01156" "2014-12-03 18:10:15" "" "" "SEQ" "DNA" "" "" "0000025684" "00025680" "1" "01156" "01156" "2014-12-03 18:11:57" "" "" "SEQ" "DNA" "" "" "0000025685" "00025681" "1" "01156" "01156" "2014-12-03 18:13:32" "" "" "SEQ" "DNA" "" "" "0000025686" "00025682" "1" "01156" "01156" "2014-12-03 18:15:11" "" "" "SEQ" "DNA" "" "" "0000025687" "00025683" "1" "01156" "01156" "2014-12-03 18:16:59" "" "" "SEQ" "DNA" "" "" "0000025688" "00025684" "1" "01156" "01156" "2014-12-03 18:19:14" "" "" "SEQ" "DNA" "" "" "0000025689" "00025685" "1" "01156" "01156" "2014-12-04 10:45:34" "" "" "SEQ" "DNA" "" "" "0000025690" "00025686" "1" "01156" "01156" "2014-12-04 10:47:55" "" "" "SEQ" "DNA" "" "" "0000025691" "00025687" "1" "01156" "01156" "2014-12-04 10:49:44" "" "" "SEQ" "DNA" "" "" "0000025692" "00025688" "1" "01156" "01156" "2014-12-04 10:51:14" "" "" "SEQ" "DNA" "" "" "0000025693" "00025689" "1" "01156" "01156" "2014-12-04 10:53:02" "" "" "SEQ" "DNA" "" "" "0000025694" "00025690" "1" "01156" "01156" "2014-12-04 10:54:58" "" "" "SEQ" "DNA" "" "" "0000025695" "00025691" "1" "01156" "01156" "2014-12-04 10:57:02" "" "" "SEQ" "DNA" "" "" "0000025696" "00025692" "1" "01156" "01156" "2014-12-04 10:58:35" "" "" "SEQ" "DNA" "" "" "0000025697" "00025693" "1" "01156" "01156" "2014-12-04 11:00:20" "" "" "SEQ" "DNA" "" "" "0000025698" "00025694" "1" "01156" "01156" "2014-12-04 11:01:57" "" "" "SEQ" "DNA" "" "" "0000025699" "00025695" "1" "01156" "01156" "2014-12-04 11:03:48" "" "" "SEQ" "DNA" "" "" "0000025700" "00025696" "1" "01156" "01156" "2014-12-04 11:05:37" "" "" "SEQ" "DNA" "" "" "0000025701" "00025697" "1" "01156" "01156" "2014-12-04 11:07:08" "" "" "SEQ" "DNA" "" "" "0000025702" "00025698" "1" "01156" "01156" "2014-12-04 11:08:56" "" "" "SEQ" "DNA" "" "" "0000025703" "00025699" "1" "01156" "01156" "2014-12-04 11:10:55" "" "" "SEQ" "DNA" "" "" "0000025704" "00025700" "1" "01156" "01156" "2014-12-04 11:12:27" "" "" "SEQ" "DNA" "" "" "0000025705" "00025701" "1" "01156" "01156" "2014-12-04 11:14:28" "" "" "SEQ" "DNA" "" "" "0000025706" "00025702" "1" "01156" "01156" "2014-12-04 11:15:59" "" "" "SEQ" "DNA" "" "" "0000025707" "00025703" "1" "01156" "01156" "2014-12-04 11:17:23" "" "" "SEQ" "DNA" "" "" "0000025708" "00025704" "1" "01156" "01156" "2014-12-04 11:19:00" "" "" "SEQ" "DNA" "" "" "0000025709" "00025705" "1" "01156" "01156" "2014-12-04 11:20:33" "" "" "SEQ" "DNA" "" "" "0000025710" "00025706" "1" "01156" "01156" "2014-12-04 11:22:07" "" "" "SEQ" "DNA" "" "" "0000025711" "00025707" "1" "01156" "01156" "2014-12-04 11:23:43" "" "" "SEQ" "DNA" "" "" "0000025712" "00025708" "1" "01156" "01156" "2014-12-04 11:25:23" "" "" "SEQ" "DNA" "" "" "0000025713" "00025709" "1" "01156" "01156" "2014-12-04 11:26:55" "" "" "SEQ" "DNA" "" "" "0000025714" "00025710" "1" "01156" "01156" "2014-12-04 11:28:35" "" "" "SEQ" "DNA" "" "" "0000025715" "00025711" "1" "01156" "01156" "2014-12-04 11:30:18" "" "" "SEQ" "DNA" "" "" "0000025716" "00025712" "1" "01156" "01156" "2014-12-04 11:33:46" "" "" "SEQ" "DNA" "" "" "0000025717" "00025713" "1" "01156" "01156" "2014-12-04 11:40:51" "" "" "SEQ" "DNA" "" "" "0000025718" "00025714" "1" "01156" "01156" "2014-12-04 11:43:13" "" "" "SEQ" "DNA" "" "" "0000025719" "00025715" "1" "01156" "01156" "2014-12-04 11:45:17" "" "" "SEQ" "DNA" "" "" "0000025720" "00025716" "1" "01156" "01156" "2014-12-04 11:46:57" "" "" "SEQ" "DNA" "" "" "0000025721" "00025717" "1" "01156" "01156" "2014-12-04 11:48:46" "" "" "SEQ" "DNA" "" "" "0000025722" "00025718" "1" "01156" "01156" "2014-12-04 11:50:56" "" "" "SEQ" "DNA" "" "" "0000025723" "00025719" "1" "01156" "01156" "2014-12-04 11:52:28" "" "" "SEQ" "DNA" "" "" "0000025724" "00025720" "1" "01156" "01156" "2014-12-04 11:54:28" "" "" "SEQ" "DNA" "" "" "0000025725" "00025721" "1" "01156" "01156" "2014-12-04 11:56:15" "" "" "SEQ" "DNA" "" "" "0000025726" "00025722" "1" "01156" "01156" "2014-12-04 11:57:48" "" "" "SEQ" "DNA" "" "" "0000025727" "00025723" "1" "01156" "01156" "2014-12-04 11:59:06" "" "" "SEQ" "DNA" "" "" "0000025728" "00025724" "1" "01156" "01156" "2014-12-04 12:00:33" "" "" "SEQ" "DNA" "" "" "0000025729" "00025725" "1" "01156" "01156" "2014-12-04 12:01:55" "" "" "SEQ" "DNA" "" "" "0000025730" "00025726" "1" "01156" "01156" "2014-12-04 12:03:15" "" "" "SEQ" "DNA" "" "" "0000025731" "00025727" "1" "01156" "01156" "2014-12-04 12:04:47" "" "" "SEQ" "DNA" "" "" "0000025732" "00025728" "1" "01156" "01156" "2014-12-04 12:06:08" "" "" "SEQ" "DNA" "" "" "0000025733" "00025729" "1" "01156" "01156" "2014-12-04 12:07:53" "" "" "SEQ" "DNA" "" "" "0000025734" "00025730" "1" "01156" "01156" "2014-12-04 12:09:18" "" "" "SEQ" "DNA" "" "" "0000025735" "00025731" "1" "00006" "00006" "2014-12-06 13:54:31" "" "" "SEQ" "DNA" "" "" "0000025736" "00025732" "1" "00006" "00006" "2014-12-06 13:59:19" "" "" "SEQ" "DNA" "" "" "0000025737" "00025733" "1" "01156" "01156" "2014-12-03 16:57:03" "" "" "SEQ" "DNA" "" "" "0000025738" "00025734" "1" "01156" "01156" "2014-12-03 16:57:03" "" "" "SEQ" "DNA" "" "" "0000025739" "00025735" "1" "00006" "00006" "2014-12-06 13:59:19" "" "" "SEQ" "DNA" "" "" "0000025740" "00025736" "1" "01156" "01156" "2014-12-03 16:16:46" "" "" "SEQ" "DNA" "" "" "0000025741" "00025737" "1" "00006" "00006" "2014-12-06 13:59:19" "" "" "SEQ" "DNA" "" "" "0000025742" "00025738" "1" "00006" "00006" "2014-12-06 13:59:19" "" "" "SEQ" "DNA" "" "" "0000025743" "00025739" "1" "00006" "00006" "2014-12-06 13:59:19" "" "" "SEQ" "DNA;RNA" "" "" "0000025744" "00025740" "1" "00006" "00006" "2014-12-06 13:59:19" "" "" "SEQ" "DNA;RNA" "" "" "0000025745" "00025741" "1" "00006" "00006" "2014-12-06 13:59:19" "" "" "PCR;SEQ" "DNA;RNA" "" "" "0000025746" "00025742" "1" "00006" "00006" "2014-12-03 17:27:12" "" "" "PCR;SEQ" "DNA" "" "" "0000025747" "00025743" "1" "00006" "00006" "2014-12-06 19:38:43" "" "" "SSCA;SEQ" "DNA" "" "" "0000025748" "00025744" "1" "00006" "00006" "2014-12-06 19:38:43" "" "" "SSCA;SEQ" "DNA" "" "" "0000025749" "00025745" "1" "00006" "00006" "2014-12-06 19:38:43" "" "" "SSCA;SEQ" "DNA" "" "" "0000025750" "00025746" "1" "00006" "00006" "2014-12-06 19:38:43" "" "" "SSCA;SEQ" "DNA" "" "" "0000025751" "00025747" "1" "00006" "00006" "2014-12-06 19:38:43" "" "" "SEQ" "DNA" "" "" "0000025752" "00025748" "1" "00006" "00006" "2014-12-06 19:38:43" "" "" "SEQ" "DNA" "" "" "0000025753" "00025749" "1" "00006" "00006" "2014-12-06 19:38:43" "" "" "SEQ" "DNA" "" "" "0000025754" "00025750" "1" "00006" "00006" "2014-12-06 19:38:43" "" "" "SEQ" "DNA" "" "" "0000025755" "00025751" "1" "01156" "01156" "2014-12-03 16:57:03" "" "" "SEQ" "DNA" "" "" "0000025756" "00025752" "1" "00006" "00006" "2014-12-07 10:01:07" "" "" "SEQ;SSCA" "DNA" "" "" "0000025757" "00025753" "1" "00006" "00006" "2014-12-07 10:20:08" "" "" "PCRdig;SEQ" "DNA" "" "" "0000025758" "00025754" "1" "00006" "00006" "2014-12-07 10:35:24" "00006" "2014-12-07 11:19:22" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000025759" "00025755" "1" "00006" "00006" "2014-12-07 11:28:32" "" "" "SEQ;SSCA" "DNA" "" "" "0000025760" "00025756" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025761" "00025757" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025762" "00025758" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025763" "00025759" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025764" "00025760" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025765" "00025761" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025766" "00025762" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025767" "00025763" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025768" "00025764" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025769" "00025765" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025770" "00025766" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025771" "00025767" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000025772" "00025768" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000025773" "00025769" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025774" "00025770" "1" "00006" "00006" "2014-12-07 13:12:51" "" "" "SEQ" "DNA" "" "" "0000025775" "00025771" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000025776" "00025772" "1" "00124" "00006" "2009-04-08 13:58:13" "" "" "SEQ" "DNA" "" "" "0000025777" "00025773" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025778" "00025774" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025779" "00025775" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025780" "00025776" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025781" "00025777" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025782" "00025778" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025783" "00025779" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025784" "00025780" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025785" "00025781" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025786" "00025782" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025787" "00025783" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025788" "00025784" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025789" "00025785" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025790" "00025786" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025791" "00025787" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025792" "00025788" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025793" "00025789" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025794" "00025790" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025795" "00025791" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025796" "00025792" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025797" "00025793" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025798" "00025794" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025799" "00025795" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025800" "00025796" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025801" "00025797" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025802" "00025798" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025803" "00025799" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025804" "00025800" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025805" "00025801" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025806" "00025802" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025807" "00025803" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025808" "00025804" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025809" "00025805" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025810" "00025806" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025811" "00025807" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025812" "00025808" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025813" "00025809" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025814" "00025810" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025815" "00025811" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025816" "00025812" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025817" "00025813" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025818" "00025814" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025819" "00025815" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025820" "00025816" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025821" "00025817" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025822" "00025818" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025823" "00025819" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025824" "00025820" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025825" "00025821" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025826" "00025822" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025827" "00025823" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025828" "00025824" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025829" "00025825" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025830" "00025826" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025831" "00025827" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025832" "00025828" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025833" "00025829" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025834" "00025830" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025835" "00025831" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025836" "00025832" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025837" "00025833" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025838" "00025834" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025839" "00025835" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025840" "00025836" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025841" "00025837" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025842" "00025838" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025843" "00025839" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025844" "00025840" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025845" "00025841" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025846" "00025842" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025847" "00025843" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025848" "00025844" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025849" "00025845" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025850" "00025846" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025851" "00025847" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025852" "00025848" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025853" "00025849" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025854" "00025850" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025855" "00025851" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025856" "00025852" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025857" "00025853" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000025858" "00025854" "1" "01156" "01156" "2014-12-03 17:57:49" "" "" "SEQ" "DNA" "" "" "0000032420" "00032352" "1" "01156" "01156" "2015-02-16 09:53:46" "" "" "SEQ" "DNA" "" "" "0000032421" "00032353" "1" "01156" "01156" "2015-02-16 10:01:34" "" "" "SEQ" "DNA" "" "" "0000032422" "00032354" "1" "01156" "01156" "2015-02-16 10:06:04" "" "" "SEQ" "DNA" "" "" "0000032423" "00032355" "1" "01156" "01156" "2015-02-16 10:29:53" "" "" "SEQ" "DNA" "" "" "0000032424" "00032356" "1" "01156" "01156" "2015-02-16 10:38:48" "" "" "SEQ" "DNA" "" "" "0000032425" "00032357" "1" "01156" "01156" "2015-02-16 10:48:47" "" "" "SEQ" "DNA" "" "" "0000032426" "00032358" "1" "01156" "01156" "2015-02-16 10:56:02" "" "" "SEQ" "DNA" "" "" "0000032427" "00032359" "1" "01156" "01156" "2015-02-16 10:59:24" "" "" "SEQ" "DNA" "" "" "0000032428" "00032360" "1" "01156" "01156" "2015-02-16 11:02:25" "" "" "SEQ" "DNA" "" "" "0000032429" "00032361" "1" "01156" "01156" "2015-02-16 11:05:24" "" "" "SEQ" "DNA" "" "" "0000032430" "00032362" "1" "01156" "01156" "2015-02-16 11:10:28" "" "" "SEQ" "DNA" "" "" "0000032431" "00032363" "1" "01156" "01156" "2015-02-16 11:21:08" "" "" "SEQ" "DNA" "" "" "0000032432" "00032364" "1" "01156" "01156" "2015-02-16 15:39:40" "" "" "SSCA" "DNA" "" "" "0000032433" "00032365" "1" "01156" "01156" "2015-02-16 16:01:03" "" "" "?" "DNA" "" "" "0000032434" "00032366" "1" "01156" "01156" "2015-02-16 16:07:11" "" "" "SSCA" "DNA" "" "" "0000032435" "00032367" "1" "01156" "01156" "2015-02-16 16:09:28" "" "" "SEQ" "DNA" "" "" "0000032436" "00032368" "1" "01156" "01156" "2015-02-16 16:17:05" "" "" "SEQ" "DNA" "" "" "0000032437" "00032369" "1" "01156" "01156" "2015-02-16 16:26:40" "00006" "2026-04-27 10:20:03" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000032442" "00032374" "1" "01156" "01156" "2015-02-17 09:35:52" "" "" "SEQ" "DNA" "" "" "0000032443" "00032375" "1" "01156" "01156" "2015-02-17 09:46:59" "" "" "SEQ" "DNA" "" "" "0000032444" "00032376" "1" "01156" "01156" "2015-02-17 16:07:57" "" "" "SEQ" "DNA" "" "" "0000032445" "00032377" "1" "01156" "01156" "2015-02-17 16:10:04" "" "" "SEQ" "DNA" "" "" "0000032446" "00032378" "1" "01156" "01156" "2015-02-17 16:15:47" "" "" "SEQ" "DNA" "" "" "0000032447" "00032379" "1" "01156" "01156" "2015-02-17 16:38:04" "" "" "SSCA" "DNA" "" "" "0000074557" "00074396" "1" "01606" "01606" "2016-06-27 11:16:56" "" "" "SEQ" "DNA" "" "" "0000296242" "00295074" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306441" "00305312" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309148" "00308004" "1" "01164" "01164" "2020-08-25 11:32:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000330027" "00328811" "1" "01156" "01156" "2021-01-30 23:46:07" "" "" "SEQ" "DNA" "" "" "0000330028" "00328812" "1" "01156" "01156" "2021-01-31 00:28:42" "" "" "arrayCGH" "DNA" "" "" "0000330029" "00328813" "1" "01156" "01156" "2021-01-31 00:45:41" "" "" "SEQ-NG" "DNA" "" "" "0000330030" "00328814" "1" "01156" "01156" "2021-01-31 11:46:08" "" "" "SEQ" "DNA" "" "" "0000330031" "00328815" "1" "01156" "01156" "2021-01-31 12:00:03" "" "" "SEQ" "DNA" "" "" "0000398238" "00396997" "1" "00006" "00006" "2021-12-18 16:55:52" "" "" "SEQ" "DNA" "" "" "0000398239" "00396998" "1" "00006" "00006" "2021-12-18 16:55:52" "" "" "SEQ" "DNA" "" "" "0000415649" "00414369" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000478865" "00477218" "1" "00006" "00006" "2026-04-24 18:11:15" "" "" "SEQ" "DNA" "" "" "0000478866" "00477219" "1" "00006" "00006" "2026-04-24 18:11:15" "" "" "SEQ" "DNA" "" "" "0000478867" "00477220" "1" "00006" "00006" "2026-04-24 18:11:15" "" "" "SEQ" "DNA" "" "" "0000478868" "00477221" "1" "00006" "00006" "2026-04-24 18:11:15" "" "" "SEQ" "DNA" "" "" "0000478877" "00477230" "1" "00006" "00006" "2026-04-25 10:55:57" "" "" "SEQ" "DNA" "" "" "0000478878" "00477231" "1" "00006" "00006" "2026-04-25 11:09:46" "" "" "SEQ" "DNA" "" "" "0000478879" "00477232" "1" "00006" "00006" "2026-04-25 10:55:57" "" "" "SEQ" "DNA" "" "" "0000478880" "00477233" "1" "00006" "00006" "2026-04-25 10:55:57" "" "" "SEQ" "DNA" "" "" "0000478881" "00477234" "1" "00006" "00006" "2026-04-25 10:55:57" "" "" "SEQ" "DNA" "" "" "0000478882" "00477235" "1" "00006" "00006" "2026-04-25 10:55:57" "" "" "SEQ" "DNA" "" "" "0000478883" "00477236" "1" "00006" "00006" "2026-04-25 10:55:57" "" "" "SEQ" "DNA" "" "" "0000478886" "00477239" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478887" "00477240" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478888" "00477241" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478889" "00477242" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478890" "00477243" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478891" "00477244" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478892" "00477245" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478893" "00477246" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478894" "00477247" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478895" "00477248" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478896" "00477249" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478897" "00477250" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478898" "00477251" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478899" "00477252" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478900" "00477253" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478901" "00477254" "1" "00006" "00006" "2026-04-26 09:06:24" "" "" "SEQ" "DNA" "" "" "0000478903" "00477256" "1" "00006" "00006" "2026-04-26 09:23:06" "" "" "SEQ" "DNA" "" "" "0000478904" "00477257" "1" "00006" "00006" "2026-04-26 09:27:02" "" "" "SEQ" "DNA" "" "" "0000478946" "00477299" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000478947" "00477300" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479681" "00478034" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479682" "00478035" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479683" "00478036" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479684" "00478037" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479685" "00478038" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479686" "00478039" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479687" "00478040" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479688" "00478041" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479689" "00478042" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479690" "00478043" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479691" "00478044" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479692" "00478045" "1" "00006" "00006" "2026-04-27 21:20:49" "" "" "SEQ" "DNA" "" "" "0000479693" "00478046" "1" "00006" "00006" "2026-04-27 21:54:11" "" "" "SEQ" "DNA" "" "" "0000479694" "00478047" "1" "00006" "00006" "2026-04-27 21:54:11" "" "" "SEQ" "DNA" "" "" "0000479695" "00478048" "1" "00006" "00006" "2026-04-27 21:54:11" "" "" "SEQ" "DNA" "" "" "0000479696" "00478049" "1" "00006" "00006" "2026-04-27 21:54:11" "" "" "SEQ" "DNA" "" "" "0000479697" "00478050" "1" "00006" "00006" "2026-04-27 21:54:11" "" "" "SEQ" "DNA" "" "" "0000479698" "00478051" "1" "00006" "00006" "2026-04-27 21:54:11" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 287 "{{screeningid}}" "{{geneid}}" "0000025652" "CLCN5" "0000025653" "CLCN5" "0000025654" "CLCN5" "0000025655" "CLCN5" "0000025656" "CLCN5" "0000025657" "CLCN5" "0000025658" "CLCN5" "0000025659" "CLCN5" "0000025660" "CLCN5" "0000025661" "CLCN5" "0000025662" "CLCN5" "0000025663" "CLCN5" "0000025664" "CLCN5" "0000025665" "CLCN5" "0000025666" "CLCN5" "0000025667" "CLCN5" "0000025668" "CLCN5" "0000025669" "CLCN5" "0000025670" "CLCN5" "0000025671" "CLCN5" "0000025672" "CLCN5" "0000025673" "CLCN5" "0000025674" "CLCN5" "0000025675" "CLCN5" "0000025676" "CLCN5" "0000025677" "CLCN5" "0000025678" "CLCN5" "0000025679" "CLCN5" "0000025680" "CLCN5" "0000025681" "CLCN5" "0000025682" "CLCN5" "0000025683" "CLCN5" "0000025684" "CLCN5" "0000025685" "CLCN5" "0000025686" "CLCN5" "0000025687" "CLCN5" "0000025688" "CLCN5" "0000025689" "CLCN5" "0000025690" "CLCN5" "0000025691" "CLCN5" "0000025692" "CLCN5" "0000025693" "CLCN5" "0000025694" "CLCN5" "0000025695" "CLCN5" "0000025696" "CLCN5" "0000025697" "CLCN5" "0000025698" "CLCN5" "0000025699" "CLCN5" "0000025700" "CLCN5" "0000025701" "CLCN5" "0000025702" "CLCN5" "0000025703" "CLCN5" "0000025704" "CLCN5" "0000025705" "CLCN5" "0000025706" "CLCN5" "0000025707" "CLCN5" "0000025708" "CLCN5" "0000025709" "CLCN5" "0000025710" "CLCN5" "0000025711" "CLCN5" "0000025712" "CLCN5" "0000025713" "CLCN5" "0000025714" "CLCN5" "0000025715" "CLCN5" "0000025716" "CLCN5" "0000025717" "CLCN5" "0000025718" "CLCN5" "0000025719" "CLCN5" "0000025720" "CLCN5" "0000025721" "CLCN5" "0000025722" "CLCN5" "0000025723" "CLCN5" "0000025724" "CLCN5" "0000025725" "CLCN5" "0000025726" "CLCN5" "0000025727" "CLCN5" "0000025728" "CLCN5" "0000025729" "CLCN5" "0000025730" "CLCN5" "0000025731" "CLCN5" "0000025732" "CLCN5" "0000025733" "CLCN5" "0000025734" "CLCN5" "0000025735" "CLCN5" "0000025736" "CLCN5" "0000025737" "CLCN5" "0000025738" "CLCN5" "0000025739" "CLCN5" "0000025740" "CLCN5" "0000025741" "CLCN5" "0000025742" "CLCN5" "0000025743" "CLCN5" "0000025744" "CLCN5" "0000025745" "CLCN5" "0000025746" "CLCN5" "0000025747" "CLCN5" "0000025748" "CLCN5" "0000025749" "CLCN5" "0000025750" "CLCN5" "0000025751" "CLCN5" "0000025752" "CLCN5" "0000025753" "CLCN5" "0000025754" "CLCN5" "0000025755" "CLCN5" "0000025756" "CLCN5" "0000025757" "CLCN5" "0000025758" "CLCN5" "0000025759" "CLCN5" "0000025760" "CLCN5" "0000025761" "CLCN5" "0000025762" "CLCN5" "0000025763" "CLCN5" "0000025764" "CLCN5" "0000025765" "CLCN5" "0000025766" "CLCN5" "0000025767" "CLCN5" "0000025768" "CLCN5" "0000025769" "CLCN5" "0000025770" "CLCN5" "0000025771" "CLCN5" "0000025772" "CLCN5" "0000025773" "CLCN5" "0000025774" "CLCN5" "0000025775" "CLCN5" "0000025776" "CLCN5" "0000025777" "CLCN5" "0000025778" "CLCN5" "0000025779" "CLCN5" "0000025780" "CLCN5" "0000025781" "CLCN5" "0000025782" "CLCN5" "0000025783" "CLCN5" "0000025784" "CLCN5" "0000025785" "CLCN5" "0000025786" "CLCN5" "0000025787" "CLCN5" "0000025788" "CLCN5" "0000025789" "CLCN5" "0000025790" "CLCN5" "0000025791" "CLCN5" "0000025792" "CLCN5" "0000025793" "CLCN5" "0000025794" "CLCN5" "0000025795" "CLCN5" "0000025796" "CLCN5" "0000025797" "CLCN5" "0000025798" "CLCN5" "0000025799" "CLCN5" "0000025800" "CLCN5" "0000025801" "CLCN5" "0000025802" "CLCN5" "0000025803" "CLCN5" "0000025804" "CLCN5" "0000025805" "CLCN5" "0000025806" "CLCN5" "0000025807" "CLCN5" "0000025808" "CLCN5" "0000025809" "CLCN5" "0000025810" "CLCN5" "0000025811" "CLCN5" "0000025812" "CLCN5" "0000025813" "CLCN5" "0000025814" "CLCN5" "0000025815" "CLCN5" "0000025816" "CLCN5" "0000025817" "CLCN5" "0000025818" "CLCN5" "0000025819" "CLCN5" "0000025820" "CLCN5" "0000025821" "CLCN5" "0000025822" "CLCN5" "0000025823" "CLCN5" "0000025824" "CLCN5" "0000025825" "CLCN5" "0000025826" "CLCN5" "0000025827" "CLCN5" "0000025828" "CLCN5" "0000025829" "CLCN5" "0000025830" "CLCN5" "0000025831" "CLCN5" "0000025832" "CLCN5" "0000025833" "CLCN5" "0000025834" "CLCN5" "0000025835" "CLCN5" "0000025836" "CLCN5" "0000025837" "CLCN5" "0000025838" "CLCN5" "0000025839" "CLCN5" "0000025840" "CLCN5" "0000025841" "CLCN5" "0000025842" "CLCN5" "0000025843" "CLCN5" "0000025844" "CLCN5" "0000025845" "CLCN5" "0000025846" "CLCN5" "0000025847" "CLCN5" "0000025848" "CLCN5" "0000025849" "CLCN5" "0000025850" "CLCN5" "0000025851" "CLCN5" "0000025852" "CLCN5" "0000025853" "CLCN5" "0000025854" "CLCN5" "0000025855" "CLCN5" "0000025856" "CLCN5" "0000025857" "CLCN5" "0000025858" "CLCN5" "0000032420" "CLCN5" "0000032421" "CLCN5" "0000032422" "CLCN5" "0000032423" "CLCN5" "0000032424" "CLCN5" "0000032425" "CLCN5" "0000032426" "CLCN5" "0000032427" "CLCN5" "0000032428" "CLCN5" "0000032429" "CLCN5" "0000032430" "CLCN5" "0000032431" "CLCN5" "0000032432" "CLCN5" "0000032433" "CLCN5" "0000032434" "CLCN5" "0000032435" "CLCN5" "0000032436" "CLCN5" "0000032437" "CLCN5" "0000032442" "CLCN5" "0000032443" "CLCN5" "0000032444" "CLCN5" "0000032445" "CLCN5" "0000032446" "CLCN5" "0000032447" "CLCN5" "0000074557" "CLCN5" "0000330027" "CLCN5" "0000330028" "CLCN5" "0000330029" "CLCN5" "0000330030" "CLCN5" "0000330031" "CLCN5" "0000398238" "CLCN5" "0000398239" "CLCN5" "0000415649" "CLCN5" "0000478865" "CLCN5" "0000478866" "CLCN5" "0000478867" "CLCN5" "0000478868" "CLCN5" "0000478877" "CLCN5" "0000478878" "CLCN5" "0000478879" "CLCN5" "0000478880" "CLCN5" "0000478881" "CLCN5" "0000478882" "CLCN5" "0000478883" "CLCN5" "0000478886" "CLCN5" "0000478887" "CLCN5" "0000478888" "CLCN5" "0000478889" "CLCN5" "0000478890" "CLCN5" "0000478891" "CLCN5" "0000478892" "CLCN5" "0000478893" "CLCN5" "0000478894" "CLCN5" "0000478895" "CLCN5" "0000478896" "CLCN5" "0000478897" "CLCN5" "0000478898" "CLCN5" "0000478899" "CLCN5" "0000478900" "CLCN5" "0000478901" "CLCN5" "0000478903" "CLCN5" "0000478904" "CLCN5" "0000479681" "CLCN5" "0000479682" "CLCN5" "0000479683" "CLCN5" "0000479684" "CLCN5" "0000479685" "CLCN5" "0000479686" "CLCN5" "0000479687" "CLCN5" "0000479688" "CLCN5" "0000479689" "CLCN5" "0000479690" "CLCN5" "0000479691" "CLCN5" "0000479692" "CLCN5" "0000479693" "CLCN5" "0000479694" "CLCN5" "0000479695" "CLCN5" "0000479696" "CLCN5" "0000479697" "CLCN5" "0000479698" "CLCN5" ## 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 = 383 "{{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}}" "0000001935" "20" "50" "X" "49687435" "49687435" "dup" "0" "00037" "chrX_001623" "g.49687435dup" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000002966" "20" "50" "X" "49687435" "49687435" "dup" "0" "00037" "chrX_002491" "g.49687435dup" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000006873" "20" "50" "X" "49687616" "49687616" "subst" "0" "00037" "chrX_001636" "g.49687616T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000008942" "20" "50" "X" "49687435" "49687435" "dup" "0" "00037" "chrX_001623" "g.49687435dup" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000010964" "20" "50" "X" "49687435" "49687435" "dup" "0" "00037" "chrX_002491" "g.49687435dup" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000048661" "21" "90" "X" "49854784" "49854784" "subst" "0" "01156" "CLCN5_000047" "g.49854784C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1546C>T" "" "Germline" "" "" "0" "" "" "g.50090127C>T" "" "pathogenic" "" "0000048662" "21" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1039C>T" "" "Germline" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048663" "0" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1039C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048664" "0" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1039C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048665" "0" "70" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1039C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086562C>T" "" "likely pathogenic" "" "0000048666" "21" "90" "X" "49846389" "49846389" "subst" "0" "01156" "CLCN5_000021" "g.49846389C>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.608C>A" "" "Germline" "" "" "0" "" "" "g.50081732C>A" "" "pathogenic" "" "0000048667" "21" "90" "X" "49855501" "49855501" "del" "0" "01156" "CLCN5_000062" "g.49855501del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2108del" "" "Germline" "" "" "0" "" "" "g.50090844del" "" "pathogenic" "" "0000048668" "0" "90" "X" "49856787" "49856787" "subst" "0" "01156" "CLCN5_000064" "g.49856787C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2152C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50092130C>T" "" "pathogenic" "" "0000048669" "21" "90" "X" "49846317" "49846317" "subst" "0" "01156" "CLCN5_000019" "g.49846317G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.536G>A" "" "Germline" "" "" "0" "" "" "g.50081660G>A" "" "pathogenic" "" "0000048670" "21" "90" "X" "49846416" "49846416" "subst" "0" "01156" "CLCN5_000023" "g.49846416G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.635G>C" "" "Germline" "" "" "0" "" "" "g.50081759G>C" "" "pathogenic" "" "0000048671" "21" "90" "X" "49853413" "49853413" "subst" "0" "01156" "CLCN5_000042" "g.49853413T>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1406T>C" "" "Germline" "" "" "0" "" "" "g.50088756T>C" "" "pathogenic" "" "0000048672" "0" "90" "X" "49846389" "49846389" "subst" "1.12027E-5" "01156" "CLCN5_000022" "g.49846389C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.608C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50081732C>T" "" "pathogenic" "" "0000048673" "0" "90" "X" "49854874" "49854874" "subst" "0" "01156" "CLCN5_000054" "g.49854874A>G" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1636A>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090217A>G" "" "pathogenic" "" "0000048674" "21" "90" "X" "49846442" "49846442" "subst" "0" "01156" "CLCN5_000024" "g.49846442T>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.661T>C" "" "Germline" "" "" "0" "" "" "g.50081785T>C" "" "pathogenic" "" "0000048675" "1" "90" "X" "49851017" "49851017" "subst" "0" "00006" "CLCN5_000098" "g.49851017G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.50086360G>A" "" "pathogenic" "" "0000048676" "21" "90" "X" "49855335" "49855335" "subst" "0" "01156" "CLCN5_000003" "g.49855335C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1942C>T" "" "Germline" "yes" "" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048677" "0" "90" "X" "49853406" "49853406" "subst" "0" "01156" "CLCN5_000041" "g.49853406C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1399C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50088749C>T" "" "pathogenic" "" "0000048678" "21" "90" "X" "49854877" "49854877" "subst" "0" "01156" "CLCN5_000055" "g.49854877T>G" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1639T>G" "" "Germline" "" "" "0" "" "" "g.50090220T>G" "" "pathogenic" "" "0000048679" "21" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1909C>T" "" "Germline" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048680" "0" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1909C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048681" "0" "70" "X" "49854794" "49854794" "subst" "0" "01156" "CLCN5_000049" "g.49854794T>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1556T>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090137T>A" "" "likely pathogenic" "" "0000048682" "20" "90" "X" "49854804" "49854806" "del" "0" "01156" "CLCN5_000050" "g.49854804_49854806del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1566_1568del" "" "Germline" "" "" "0" "" "" "g.50090147_50090149del" "" "pathogenic" "" "0000048683" "0" "90" "X" "49854804" "49854806" "del" "0" "01156" "CLCN5_000050" "g.49854804_49854806del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1566_1568del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090147_50090149del" "" "pathogenic" "" "0000048684" "21" "90" "X" "49834580" "49856877" "del" "0" "01156" "CLCN5_000000" "g.(?_49834551)_(49857096_?)del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "g.50069896_50075809del" "whole gene deletion, breakpoints not characterized" "Germline" "" "" "0" "" "" "g.(?_50069896)_(50092439_?)del" "" "pathogenic" "" "0000048685" "0" "90" "X" "49834580" "49856877" "del" "0" "01156" "CLCN5_000000" "g.(?_49834551)_(49857096_?)del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "g.50069896_50075809del" "whole gene deletion, breakpoints not characterized" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_50069896)_(50092439_?)del" "" "pathogenic" "" "0000048686" "0" "90" "X" "49834580" "49856877" "del" "0" "01156" "CLCN5_000000" "g.(?_49834551)_(49857096_?)del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "g.50069896_50075809del" "whole gene deletion, breakpoints not characterized" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_50069896)_(50092439_?)del" "" "pathogenic" "" "0000048687" "0" "50" "X" "49845141" "49845141" "del" "0" "00037" "CLCN5_000097" "g.49845141del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50080484del" "" "VUS" "" "0000048688" "0" "50" "X" "49845141" "49845141" "del" "0" "00037" "CLCN5_000097" "g.49845141del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50080484del" "" "VUS" "" "0000048689" "0" "90" "X" "49834581" "49834686" "del" "0" "01156" "CLCN5_000008" "g.(?_49834581)_(49834686_49837143)del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1-?_105+?del, delex2" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_50069926)_(50070031_50072488)del" "" "pathogenic" "" "0000048690" "0" "90" "X" "49834580" "49837244" "del" "0" "01156" "CLCN5_000117" "g.(?_49834580)_(49837244_49840449)del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1-?_205+?del, del ex2-3" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_50069926)_(50072589_50075794)del" "" "pathogenic" "" "0000048691" "0" "90" "X" "49834581" "49840638" "del" "0" "01156" "CLCN5_000009" "g.(?_49834581)_(49840638_49845250)del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1-?_393+?del, del ex2-4" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_50069926)_(50075983_50080593)del" "" "pathogenic" "" "0000048692" "0" "70" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.82C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50070007C>T" "" "likely pathogenic" "" "0000048693" "21" "70" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.82C>T" "" "Germline" "" "" "0" "" "" "g.50070007C>T" "" "likely pathogenic" "" "0000048694" "0" "90" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.82C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50070007C>T" "" "pathogenic" "" "0000048695" "20" "70" "X" "49834685" "49834685" "subst" "0" "01156" "CLCN5_000010" "g.49834685G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.105G>A (Glu353Glu)" "splicing effect" "Germline" "" "" "0" "" "" "g.50070030G>A" "" "likely pathogenic" "" "0000048696" "21" "90" "X" "49837204" "49837204" "del" "0" "01156" "CLCN5_000011" "g.49837204del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.166del" "" "Germline" "" "" "0" "" "" "g.50072549del" "" "pathogenic" "" "0000048697" "0" "70" "X" "49840449" "49840449" "subst" "0" "01156" "CLCN5_000012" "g.49840449G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.206-1G>C" "Loss of splice acceptor site" "Germline/De novo (untested)" "" "" "0" "" "" "g.50075794G>C" "" "likely pathogenic" "" "0000048698" "0" "70" "X" "49840552" "49840552" "subst" "0" "01156" "CLCN5_000013" "g.49840552G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.308G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50075897G>A" "" "likely pathogenic" "" "0000048699" "0" "70" "X" "49840553" "49840553" "subst" "0" "01156" "CLCN5_000014" "g.49840553G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.309G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50075898G>A" "" "likely pathogenic" "" "0000048700" "0" "70" "X" "49845249" "49845249" "subst" "0" "01156" "CLCN5_000007" "g.49845249A>G" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.394-2A>G" "Loss of splice acceptor site" "Germline/De novo (untested)" "" "" "0" "" "" "g.50080592A>G" "" "likely pathogenic" "" "0000048701" "20" "70" "X" "49845249" "49845249" "subst" "0" "01156" "CLCN5_000007" "g.49845249A>G" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.394-2A>G" "Loss of splice acceptor site" "Germline" "" "" "0" "" "" "g.50080592A>G" "" "likely pathogenic" "" "0000048702" "0" "90" "X" "49845260" "49845261" "del" "0" "01156" "CLCN5_000015" "g.49845260_49845261del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.403_404del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50080603_50080604del" "" "pathogenic" "" "0000048703" "0" "90" "X" "49845267" "49845267" "dup" "0" "01156" "CLCN5_000016" "g.49845267dup" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.410dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50080610dup" "" "pathogenic" "" "0000048704" "0" "70" "X" "49845295" "49845295" "subst" "0" "01156" "CLCN5_000017" "g.49845295G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.438G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50080638G>A" "" "likely pathogenic" "" "0000048705" "20" "70" "X" "49846290" "49846290" "subst" "0" "01156" "CLCN5_000018" "g.49846290A>G" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.517-8A>G" "" "Germline" "" "" "0" "" "" "g.50081633A>G" "" "likely pathogenic" "" "0000048706" "0" "90" "X" "49846378" "49846379" "dup" "0" "01156" "CLCN5_000020" "g.49846378_49846379dup" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.597_598dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50081721_50081722dup" "" "pathogenic" "" "0000048707" "0" "90" "X" "49846462" "49846463" "del" "0" "01156" "CLCN5_000025" "g.49846462_49846463del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.681_682del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50081805_50081806del" "" "pathogenic" "" "0000048708" "21" "70" "X" "49846473" "49846473" "subst" "0" "01156" "CLCN5_000026" "g.49846473A>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.692A>T" "" "Germline" "" "" "0" "" "" "g.50081816A>T" "" "likely pathogenic" "" "0000048709" "21" "90" "X" "49846480" "49846480" "del" "0" "01156" "CLCN5_000027" "g.49846480del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.699del" "" "Germline" "" "" "0" "" "" "g.50081823del" "" "pathogenic" "" "0000048710" "0" "70" "X" "49846497" "49846497" "subst" "0" "01156" "CLCN5_000028" "g.49846497G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.716G>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50081840G>C" "" "likely pathogenic" "" "0000048711" "21" "70" "X" "49846502" "49846502" "subst" "0" "01156" "CLCN5_000029" "g.49846502G>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.721G>T" "" "Germline" "" "" "0" "" "" "g.50081845G>T" "" "likely pathogenic" "" "0000048712" "21" "70" "X" "49850635" "49850635" "subst" "0" "01156" "CLCN5_000030" "g.49850635A>G" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.724-2A>G" "Loss of splice acceptor site" "Germline" "" "" "0" "" "" "g.50085978A>G" "" "likely pathogenic" "" "0000048713" "0" "70" "X" "49850635" "49850635" "subst" "0" "01156" "CLCN5_000030" "g.49850635A>G" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.724-2A>G" "Loss of splice acceptor site" "Germline/De novo (untested)" "" "" "0" "" "" "g.50085978A>G" "" "likely pathogenic" "" "0000048714" "21" "70" "X" "49850636" "49850636" "subst" "0" "01156" "CLCN5_000031" "g.49850636G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.724-1G>A" "Loss of splice acceptor site" "Germline" "" "" "0" "" "" "g.50085979G>A" "" "likely pathogenic" "" "0000048715" "21" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.731C>T" "" "Germline" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048716" "0" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.731C>T" "" "De novo" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048717" "21" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.731C>T" "" "Germline" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048718" "0" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.731C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048719" "0" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.731C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048720" "0" "70" "X" "49850661" "49850661" "subst" "0" "01156" "CLCN5_000032" "g.49850661G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.748G>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086004G>C" "" "likely pathogenic" "" "0000048721" "21" "90" "X" "49850686" "49850686" "delins" "0" "01156" "CLCN5_000033" "g.49850686delinsGGAA" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.773delinsGGAA" "" "Germline" "" "" "0" "" "" "g.50086029delinsGGAA" "" "pathogenic" "" "0000048722" "0" "90" "X" "49850693" "49850693" "del" "0" "01156" "CLCN5_000034" "g.49850693del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.780del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086036del" "" "pathogenic" "" "0000048723" "21" "70" "X" "49850714" "49850714" "subst" "0" "01156" "CLCN5_000035" "g.49850714A>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.801A>C" "" "Germline" "" "" "0" "" "" "g.50086057A>C" "" "likely pathogenic" "" "0000048724" "21" "70" "X" "49850990" "49850990" "subst" "0" "01156" "CLCN5_000036" "g.49850990C>G" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.810C>G" "" "Germline" "" "" "0" "" "" "g.50086333C>G" "" "likely pathogenic" "" "0000048725" "0" "70" "X" "49851390" "49851390" "subst" "0" "01156" "CLCN5_000038" "g.49851390G>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1210G>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086733G>T" "" "likely pathogenic" "" "0000048726" "21" "70" "X" "49851468" "49851468" "subst" "0" "01156" "CLCN5_000039" "g.49851468C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1288C>T" "" "Germline" "" "" "0" "" "" "g.50086811C>T" "" "likely pathogenic" "" "0000048727" "0" "90" "X" "49853353" "49853353" "del" "0" "01156" "CLCN5_000040" "g.49853353del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1348-2del" "Loss of splice acceptor site" "Germline/De novo (untested)" "" "" "0" "" "" "g.50088696del" "" "pathogenic" "" "0000048728" "21" "70" "X" "49853415" "49853415" "subst" "0" "01156" "CLCN5_000043" "g.49853415G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1408G>A" "" "Germline" "" "" "0" "" "" "g.50088758G>A" "" "likely pathogenic" "" "0000048729" "21" "70" "X" "49853415" "49853415" "subst" "0" "01156" "CLCN5_000044" "g.49853415G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1408G>A" "" "Germline" "" "" "0" "" "" "g.50088758G>A" "" "likely pathogenic" "" "0000048730" "21" "70" "X" "49854772" "49854772" "subst" "0" "01156" "CLCN5_000045" "g.49854772G>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1535-1G>T" "Loss of splice acceptor site" "Germline" "" "" "0" "" "" "g.50090115G>T" "" "likely pathogenic" "" "0000048731" "0" "90" "X" "49854774" "49854774" "del" "0" "01156" "CLCN5_000046" "g.49854774del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1536del" "" "De novo" "" "" "0" "" "" "g.50090117del" "" "pathogenic" "" "0000048732" "21" "70" "X" "49854790" "49854790" "subst" "0" "01156" "CLCN5_000048" "g.49854790A>G" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1552A>G" "" "Germline" "" "" "0" "" "" "g.50090133A>G" "" "likely pathogenic" "" "0000048733" "0" "90" "X" "49854809" "49854809" "dup" "0" "01156" "CLCN5_000051" "g.49854809dup" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1571dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090152dup" "" "pathogenic" "" "0000048734" "0" "90" "X" "49854812" "49854812" "del" "0" "01156" "CLCN5_000052" "g.49854812del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1574del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090155del" "" "pathogenic" "" "0000048735" "0" "70" "X" "49854826" "49854826" "subst" "0" "01156" "CLCN5_000053" "g.49854826G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1588G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090169G>A" "" "likely pathogenic" "" "0000048736" "0" "90" "X" "49854985" "49854985" "del" "0" "01156" "CLCN5_000056" "g.49854985del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1747del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090328del" "" "pathogenic" "" "0000048737" "0" "90" "X" "49854989" "49854989" "del" "0" "01156" "CLCN5_000057" "g.49854989del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1751del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090332del" "" "pathogenic" "" "0000048738" "21" "90" "X" "49855131" "49855131" "dup" "0" "01156" "CLCN5_000058" "g.49855131dup" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1893dup" "" "Germline" "" "" "0" "" "" "g.50090474dup" "" "pathogenic" "" "0000048739" "0" "90" "X" "49855335" "49855335" "subst" "0" "01156" "CLCN5_000003" "g.49855335C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1942C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048740" "21" "90" "X" "49855355" "49855355" "del" "0" "01156" "CLCN5_000060" "g.49855355del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1962del" "" "Germline" "" "" "0" "" "" "g.50090698del" "" "pathogenic" "" "0000048741" "21" "90" "X" "49855472" "49855473" "ins" "0" "01156" "CLCN5_000061" "g.49855472_49855473insG" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2079_2080insG" "" "Germline" "" "" "0" "" "" "g.50090815_50090816insG" "" "pathogenic" "" "0000048742" "21" "90" "X" "49855472" "49855473" "ins" "0" "01156" "CLCN5_000061" "g.49855472_49855473insG" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2079_2080insG" "" "Germline" "" "" "0" "" "" "g.50090815_50090816insG" "" "pathogenic" "" "0000048743" "21" "90" "X" "49855472" "49855473" "ins" "0" "01156" "CLCN5_000061" "g.49855472_49855473insG" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2079_2080insG" "" "Germline" "" "" "0" "" "" "g.50090815_50090816insG" "" "pathogenic" "" "0000048744" "21" "90" "X" "49855503" "49855503" "subst" "0" "01156" "CLCN5_000004" "g.49855503C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2110C>T" "" "Germline" "" "" "0" "" "" "g.50090846C>T" "" "pathogenic" "" "0000048745" "21" "70" "X" "49855544" "49855544" "subst" "0" "01156" "CLCN5_000063" "g.49855544G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2150+1G>A" "Loss of splice donor site" "Germline" "" "" "0" "" "" "g.50090887G>A" "" "likely pathogenic" "" "0000048746" "20" "90" "X" "49856819" "49856819" "del" "0" "01156" "CLCN5_000065" "g.49856819del" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2184del" "" "Germline" "" "" "0" "" "" "g.50092162del" "" "pathogenic" "" "0000048747" "1" "90" "X" "49851017" "49851017" "subst" "0" "00006" "CLCN5_000098" "g.49851017G>A" "" "{PMID:Lloyd 1996:08559248}, {OMIM300008:0001}" "MaeIII" "Trp279X (TGG>TGA)" "" "Germline" "yes" "rs151340620" "0" "" "" "g.50086360G>A" "" "pathogenic" "" "0000048748" "1" "90" "X" "49855335" "49855335" "subst" "0" "01156" "CLCN5_000003" "g.49855335C>T" "" "{PMID:Lloyd 1996:8559248}, {OMIM300008:0002}" "TaqI" "Arg648X (CGA>TGA)" "" "Germline" "yes" "rs151340621" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048749" "1" "90" "X" "49855503" "49855503" "subst" "0" "01156" "CLCN5_000004" "g.49855503C>T" "" "{PMID:Lloyd 1996:08559248}, {OMIM300008:0005}" "BstI" "Arg704X (CGA>TGA)" "" "Germline" "yes" "rs151340624" "0" "" "" "g.50090846C>T" "" "pathogenic" "" "0000048750" "1" "90" "X" "49846380" "49846380" "subst" "0" "00006" "CLCN5_000066" "g.49846380T>G" "" "{PMID:Lloyd 1996:08559248}, {OMIM300008:0003}" "AciI" "Leu200Arg (CTG>CGG)" "" "Germline" "yes" "rs151340622" "0" "" "" "g.50081723T>G" "" "pathogenic" "" "0000048751" "1" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Lloyd 1996:08559248}, {OMIM300008:0007}" "" "Ser244Leu (TCG>TTG)" "" "Germline" "yes" "rs151340626" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048752" "1" "90" "X" "49853524" "49853524" "subst" "0" "00006" "CLCN5_000067" "g.49853524G>A" "" "{PMID:Lloyd 1996:08559248}, {OMIM300008:0006}" "MnlI" "Gly506Glu (GGG>GAG)" "" "Germline" "yes" "rs151340625" "0" "" "" "" "" "pathogenic" "" "0000048753" "1" "90" "X" "49854796" "49854796" "subst" "0" "00006" "CLCN5_000068" "g.49854796T>C" "" "{PMID:Lloyd 1996:08559248}, {OMIM300008:0004}" "MnlI" "Ser520Pro (TCT>CCT)" "" "Germline" "yes" "rs151340623" "0" "" "" "g.50090139T>C" "" "pathogenic" "" "0000048754" "1" "90" "X" "49845375" "49845375" "subst" "0" "00006" "CLCN5_000069" "g.49845375T>G" "" "{PMID:Lloyd 1996:08559248}" "HphI" "IVS5 gt>gg" "" "Germline" "yes" "" "0" "" "" "g.50080718T>G" "" "pathogenic" "" "0000048755" "1" "90" "X" "49845374" "49845374" "subst" "0" "00006" "CLCN5_000070" "g.49845374G>A" "" "{PMID:Lloyd 1996:08559248}" "HphI" "IVS5 gt>at" "" "Germline" "yes" "" "0" "" "" "g.50080717G>A" "" "pathogenic" "" "0000048756" "1" "90" "X" "49845250" "49846505" "del" "0" "00006" "CLCN5_000071" "g.(49840638_49845250)_(49846505_49850636)del" "" "{PMID:Lloyd 1996:08559248}" "" "2 kb deletion exons 5-6" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000048757" "1" "90" "X" "49834580" "49856877" "del" "0" "00006" "CLCN5_000000" "g.(?_49834580)_(49856877_?)del" "" "{PMID:Lloyd 1996:08559248}" "" "whole gene deletion" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000048758" "1" "90" "X" "49851017" "49851017" "subst" "0" "00006" "CLCN5_000098" "g.49851017G>A" "" "{PMID:Lloyd 1997:09062355}, {OMIM300008:0001}" "MaeIII" "W279X (TGG>TGA)" "" "Germline" "yes" "rs151340620" "0" "" "" "g.50086360G>A" "" "pathogenic" "" "0000048759" "1" "90" "X" "49855335" "49855335" "subst" "0" "01156" "CLCN5_000003" "g.49855335C>T" "" "{PMID:Lloyd 1997:09259268}, {OMIM300008:0002}" "TaqI" "Arg684Stop (CGA>TGA)" "" "Germline" "" "rs151340621" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048760" "1" "90" "X" "49851019" "49851019" "subst" "0" "00006" "CLCN5_000072" "g.49851019G>C" "" "{PMID:Lloyd 1997:09062355}, {OMIM300008:0010}" "HaeIII" "R280P (CGT>CCT)" "" "Germline" "yes" "" "0" "" "" "g.50086362G>C" "" "pathogenic" "" "0000048761" "1" "90" "X" "49851208" "49851208" "subst" "0" "00006" "CLCN5_000073" "g.49851208G>A" "" "{PMID:Lloyd 1997:09062355}, {OMIM300008:0008}" "EcoRII" "W343X (TGG>TAG)" "" "Germline" "yes" "" "0" "" "" "g.50086551G>A" "" "pathogenic" "" "0000048762" "1" "90" "X" "49855478" "49855478" "del" "0" "00006" "CLCN5_000074" "g.49855478del" "" "{PMID:Lloyd 1997:09062355}, {OMIM300008:0009}" "" "del695fs>699Stop" "" "Germline" "yes" "" "0" "" "" "g.50090821del" "" "pathogenic" "" "0000048763" "1" "90" "X" "49834667" "49834668" "ins" "0" "00006" "CLCN5_000075" "g.49834667_49834668insAAC" "" "{PMID:Lloyd 1997:09259268}" "" "AAC in frame 30:H" "" "Germline" "" "" "0" "" "" "g.50070012_50070013insAAC" "" "pathogenic" "" "0000048764" "1" "90" "X" "49837208" "49837208" "subst" "0" "00006" "CLCN5_000076" "g.49837208G>T" "" "{PMID:Lloyd 1997:09259268}" "MspI" "Gly57Val (GGC>GTC)" "" "Germline" "yes" "" "0" "" "" "g.50072553G>T" "" "pathogenic" "" "0000048765" "1" "90" "X" "49854773" "49854773" "subst" "0" "00006" "CLCN5_000077" "g.49854773G>C" "" "{PMID:Lloyd 1997:09259268}" "HphI" "Gly512Arg (GGT>CGT)" "" "Germline" "yes" "" "0" "" "" "g.50090116G>C" "" "pathogenic" "" "0000048766" "1" "90" "X" "49854819" "49854819" "subst" "0" "00006" "CLCN5_000078" "g.49854819A>T" "" "{PMID:Lloyd 1997:09259268}" "Sau3AI" "Glu527Asp (GAA>GAT)" "" "Germline" "yes" "" "0" "" "" "g.50090162A>T" "" "pathogenic" "" "0000048767" "21" "90" "X" "49850644" "49850644" "subst" "0" "00006" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Oudet 1997:09187673}, {OMIM300008:0007}" "" "" "" "Germline" "yes" "rs151340626" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048768" "21" "90" "X" "49837208" "49837208" "subst" "0" "00006" "CLCN5_000076" "g.49837208G>T" "" "{PMID:Schurman 1998:09602200}, {OMIM300008:0011}" "" "Gly57Val" "" "Germline" "yes" "rs151340629" "0" "" "" "g.50072553G>T" "" "pathogenic" "" "0000048769" "21" "90" "X" "49855341" "49855342" "ins" "0" "00006" "CLCN5_000079" "g.49855341_49855342insN[345]" "" "{PMID:Claverie-Martin 2003:14569459}, {PMID:Claverie-Martin 2005:16041495}, {OMIM300008:0012}" "" "" "sequence Alu insertion in paper, 2 variants with AluYa5; probably de novo insertion maternal grandpaternal chromosome" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000048770" "21" "90" "X" "49850692" "49850692" "subst" "0" "00006" "CLCN5_000080" "g.49850692G>T" "1/25 case" "{PMID:Tosetto 2006:16247550}, {OMIM300008:0013}" "" "1070G>Y (Gly260Val)" "" "Germline" "" "rs151340630" "0" "" "" "g.50086035G>T" "" "pathogenic" "" "0000048771" "21" "90" "X" "49837211" "49837211" "subst" "0" "00006" "CLCN5_000081" "g.49837211G>T" "" "{PMID:Tosetto 2009:19673950}" "" "464G>T" "" "Germline" "yes" "" "0" "" "" "g.50072556G>T" "" "pathogenic" "" "0000048772" "1" "90" "X" "49846355" "49846355" "del" "0" "00006" "CLCN5_000082" "g.49846355del" "" "{PMID:Tosetto 2009:19673950}" "" "865delG" "" "Unknown" "" "" "0" "" "" "g.50081698del" "" "pathogenic" "" "0000048773" "1" "90" "X" "49850694" "49850694" "subst" "0" "00006" "CLCN5_000083" "g.49850694G>A" "" "{PMID:Tosetto 2009:19673950}" "" "1072G>A" "" "Unknown" "" "" "0" "" "" "g.50086037G>A" "" "pathogenic" "" "0000048774" "1" "90" "X" "49850695" "49850697" "del" "0" "00006" "CLCN5_000084" "g.49850695_49850697del" "" "{PMID:Tosetto 2009:19673950}" "" "1072_1074del" "" "Unknown" "" "" "0" "" "" "g.50086038_50086040del" "" "pathogenic" "" "0000048775" "21" "90" "X" "49851010" "49851012" "dup" "0" "00006" "CLCN5_000085" "g.49851010_49851012dup" "" "{PMID:Tosetto 2009:19673950}" "" "1123_1124insCAT" "" "Germline" "yes" "" "0" "" "" "g.50086353_50086355dup" "" "pathogenic" "" "0000048776" "1" "90" "X" "49851340" "49851341" "dup" "0" "00006" "CLCN5_000086" "g.49851340_49851341dup" "" "{PMID:Tosetto 2009:19673950}" "" "1552_1553insAG (L388SfsX434)" "" "Unknown" "" "" "0" "" "" "g.50086683_50086684dup" "" "pathogenic" "" "0000048777" "21" "90" "X" "49854773" "49854773" "subst" "0" "00006" "CLCN5_000087" "g.49854773G>A" "" "{PMID:Tosetto 2009:19673950}" "" "1826G>A" "" "Germline" "yes" "" "0" "" "" "g.50090116G>A" "" "pathogenic" "" "0000048778" "21" "90" "X" "49854803" "49854803" "subst" "0" "00006" "CLCN5_000088" "g.49854803T>A" "" "{PMID:Tosetto 2009:19673950}" "" "1856T>A (V519D)" "" "Germline" "yes" "" "0" "" "" "g.50090146T>A" "" "pathogenic" "" "0000048779" "1" "90" "X" "49854877" "49854877" "subst" "0" "00006" "CLCN5_000089" "g.49854877T>C" "" "{PMID:Tosetto 2009:19673950}" "" "1930T>C" "" "Unknown" "" "" "0" "" "" "g.50090220T>C" "" "pathogenic" "" "0000048780" "1" "90" "X" "49855003" "49855003" "dup" "0" "00006" "CLCN5_000090" "g.49855003dup" "" "{PMID:Tosetto 2009:19673950}" "" "2056_2057insC" "" "Unknown" "" "" "0" "" "" "g.50090346dup" "" "pathogenic" "" "0000048781" "21" "90" "X" "49855100" "49855100" "subst" "0" "00006" "CLCN5_000091" "g.49855100C>T" "" "{PMID:Tosetto 2009:19673950}" "" "2153C>T" "" "Germline" "yes" "" "0" "" "" "g.50090443C>T" "" "pathogenic" "" "0000048782" "1" "90" "X" "49840641" "49840641" "subst" "0" "00006" "CLCN5_000092" "g.49840641A>G" "" "{PMID:Tosetto 2009:19673950}" "" "IVS4+4A>G" "" "Unknown" "" "" "0" "" "" "g.50075986A>G" "" "pathogenic" "" "0000048783" "1" "90" "X" "49851528" "49851528" "subst" "0" "00006" "CLCN5_000093" "g.49851528G>T" "" "{PMID:Tosetto 2009:19673950}, {OMIM300008:0014}" "" "IVS8+1G>T" "" "Unknown" "" "" "0" "" "" "g.50086871G>T" "" "pathogenic" "" "0000048784" "1" "90" "X" "49855544" "49855544" "subst" "0" "00006" "CLCN5_000094" "g.49855544G>T" "" "{PMID:Tosetto 2009:19673950}" "" "IVS11+1G>T" "" "Unknown" "" "" "0" "" "" "g.50090887G>T" "" "pathogenic" "" "0000048785" "1" "90" "X" "49832274" "49832274" "subst" "0" "00006" "CLCN5_000095" "g.49832274G>A" "" "{PMID:Tosetto 2009:19673950}" "" "-480G>A" "not in 471 control chromosomes" "Unknown" "" "" "0" "" "" "g.50067619G>A" "" "pathogenic" "" "0000048786" "21" "30" "X" "49851337" "49851337" "subst" "0" "00006" "CLCN5_000096" "g.49851337C>T" "" "{PMID:Tosetto 2009:19673950}" "" "1448C>T" "not in 311 control chromosomes" "Germline" "" "" "0" "" "" "g.50086680C>T" "" "likely benign" "" "0000048787" "1" "90" "X" "49840628" "49840628" "subst" "1.68208E-5" "00124" "CLCN5_000002" "g.49840628C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50075973C>G" "" "pathogenic" "" "0000048788" "1" "90" "X" "49854863" "49854863" "subst" "0" "00124" "CLCN5_000001" "g.49854863C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.50090206C>T" "" "pathogenic" "" "0000048789" "1" "90" "X" "49854784" "49854784" "subst" "0" "01156" "CLCN5_000047" "g.49854784C>T" "" "{PMID:Akuta 1997:09328929}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090127C>T" "" "pathogenic" "" "0000048790" "1" "90" "X" "49854784" "49854784" "subst" "0" "01156" "CLCN5_000047" "g.49854784C>T" "" "{PMID:Hoopes 2004:15086899}" "" "CGG>TGG R516W" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090127C>T" "" "pathogenic" "" "0000048791" "1" "90" "X" "49854784" "49854784" "subst" "0" "01156" "CLCN5_000047" "g.49854784C>T" "" "{PMID:Ludwig 2005:15895257}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090127C>T" "" "pathogenic" "" "0000048792" "1" "90" "X" "49854784" "49854784" "subst" "0" "01156" "CLCN5_000047" "g.49854784C>T" "" "{PMID:Ludwig 2006:16807762}" "" "C1837T (R516W)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090127C>T" "" "pathogenic" "" "0000048793" "1" "90" "X" "49854784" "49854784" "subst" "0" "01156" "CLCN5_000047" "g.49854784C>T" "" "{PMID:Park 2014:24912603}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090127C>T" "" "pathogenic" "" "0000048794" "1" "90" "X" "49854784" "49854784" "subst" "0" "01156" "CLCN5_000047" "g.49854784C>T" "" "{PMID:Sekine 2014:24081861}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090127C>T" "" "pathogenic" "" "0000048795" "1" "90" "X" "49854784" "49854784" "subst" "0" "01156" "CLCN5_000047" "g.49854784C>T" "" "{PMID:Wu 2009:19546591}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090127C>T" "" "pathogenic" "" "0000048796" "1" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Akuta 1997:09328929}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048797" "1" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Besbas 2005:15814539}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048798" "1" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Hoopes 2004:15086899}" "" "CGA>TGA R347X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048799" "1" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Ludwig 2005:15895257}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048800" "1" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Morimoto 1998:09596078}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048801" "1" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Sekine 2014:24081861}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048802" "1" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Tosetto 2006:16822791}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048803" "1" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Wu 2009:19546591}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048804" "1" "90" "X" "49846389" "49846389" "subst" "0" "01156" "CLCN5_000021" "g.49846389C>A" "" "{PMID:Blanchard 2008:18976849}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081732C>A" "" "pathogenic" "" "0000048805" "1" "90" "X" "49856787" "49856787" "subst" "0" "01156" "CLCN5_000064" "g.49856787C>T" "" "{PMID:Carballo-Trujillo 2003:12637640}" "" "" "" "Unknown" "" "" "0" "" "" "g.50092130C>T" "" "pathogenic" "" "0000048806" "1" "90" "X" "49856787" "49856787" "subst" "0" "01156" "CLCN5_000064" "g.49856787C>T" "" "{PMID:Hoopes 2004:15086899}" "" "CGA>TGA R718X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50092130C>T" "" "pathogenic" "" "0000048807" "1" "90" "X" "49856787" "49856787" "subst" "0" "01156" "CLCN5_000064" "g.49856787C>T" "" "{PMID:Wu 2009:19546591}" "" "" "" "Unknown" "" "" "0" "" "" "g.50092130C>T" "" "pathogenic" "" "0000048808" "1" "90" "X" "49856787" "49856787" "subst" "0" "01156" "CLCN5_000064" "g.49856787C>T" "" "Ramos-Trujillo 2013:Journal of Pediatric Genetics" "" "" "" "Unknown" "" "" "0" "" "" "g.50092130C>T" "" "pathogenic" "" "0000048809" "1" "90" "X" "49846317" "49846317" "subst" "0" "01156" "CLCN5_000019" "g.49846317G>A" "" "{PMID:Grand 2009:19657328}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081660G>A" "" "pathogenic" "" "0000048810" "1" "90" "X" "49846416" "49846416" "subst" "0" "01156" "CLCN5_000023" "g.49846416G>C" "" "{PMID:Grand 2009:19657328}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081759G>C" "" "pathogenic" "" "0000048811" "1" "90" "X" "49846416" "49846416" "subst" "0" "01156" "CLCN5_000023" "g.49846416G>C" "" "{PMID:Grand 2009:19657328}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081759G>C" "" "pathogenic" "" "0000048812" "1" "90" "X" "49846416" "49846416" "subst" "0" "01156" "CLCN5_000023" "g.49846416G>C" "" "{PMID:Grand 2009:19657328}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081759G>C" "" "pathogenic" "" "0000048813" "1" "90" "X" "49853413" "49853413" "subst" "0" "01156" "CLCN5_000042" "g.49853413T>C" "" "{PMID:Grand 2009:19657328}" "" "" "" "Unknown" "" "" "0" "" "" "g.50088756T>C" "" "pathogenic" "" "0000048814" "1" "90" "X" "49853413" "49853413" "subst" "0" "01156" "CLCN5_000042" "g.49853413T>C" "" "{PMID:Lee 2009:19579036}" "" "" "" "Unknown" "" "" "0" "" "" "g.50088756T>C" "" "pathogenic" "" "0000048815" "1" "90" "X" "49846389" "49846389" "subst" "1.12027E-5" "01156" "CLCN5_000022" "g.49846389C>T" "" "{PMID:Grand 2009:19657328}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081732C>T" "" "pathogenic" "" "0000048816" "1" "90" "X" "49846389" "49846389" "subst" "1.12027E-5" "01156" "CLCN5_000022" "g.49846389C>T" "" "{PMID:Park 2014:24912603}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081732C>T" "" "pathogenic" "" "0000048817" "1" "90" "X" "49846389" "49846389" "subst" "1.12027E-5" "01156" "CLCN5_000022" "g.49846389C>T" "" "{PMID:Sekine 2014:24081861}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081732C>T" "" "pathogenic" "" "0000048818" "1" "90" "X" "49854874" "49854874" "subst" "0" "01156" "CLCN5_000054" "g.49854874A>G" "" "{PMID:Hoopes 2004:15086899}" "" "AAG>GAG K546E" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090217A>G" "" "pathogenic" "" "0000048819" "0" "90" "X" "49846442" "49846442" "subst" "0" "01156" "CLCN5_000024" "g.49846442T>C" "" "{PMID:Hoopes 2004:15086899}" "" "TGT>CGT C221R" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50081785T>C" "" "pathogenic" "" "0000048820" "1" "90" "X" "49846442" "49846442" "subst" "0" "01156" "CLCN5_000024" "g.49846442T>C" "" "{PMID:Ludwig 2005:15895257}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081785T>C" "" "pathogenic" "" "0000048821" "1" "90" "X" "49853406" "49853406" "subst" "0" "01156" "CLCN5_000041" "g.49853406C>T" "" "{PMID:Dinour 2009:19546586}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048822" "1" "90" "X" "49853406" "49853406" "subst" "0" "01156" "CLCN5_000041" "g.49853406C>T" "" "{PMID:Li 2009:19076289}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048823" "1" "90" "X" "49853406" "49853406" "subst" "0" "01156" "CLCN5_000041" "g.49853406C>T" "" "{PMID:Ludwig 2005:15895257}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048824" "1" "90" "X" "49853406" "49853406" "subst" "0" "01156" "CLCN5_000041" "g.49853406C>T" "" "{PMID:Ramos-Trujillo 2007:18184518}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048825" "1" "90" "X" "49853406" "49853406" "subst" "0" "01156" "CLCN5_000041" "g.49853406C>T" "" "{PMID:Tosetto 2006:16822791}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048826" "1" "90" "X" "49853406" "49853406" "subst" "0" "01156" "CLCN5_000041" "g.49853406C>T" "" "{PMID:Zhu 2010:20654030}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048827" "1" "90" "X" "49854877" "49854877" "subst" "0" "01156" "CLCN5_000055" "g.49854877T>G" "" "{PMID:Ramos-Trujillo 2007:17262170}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090220T>G" "" "pathogenic" "" "0000048828" "1" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Cheong 2005:15719255}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048829" "1" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Cho 2008:18038239}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048830" "1" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Dinour 2009:19546586}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048831" "1" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Lee 2009:19579036}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048832" "1" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Li 2009:19076289}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048833" "1" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Ludwig 2005:15895257}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048834" "21" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Ludwig 2006:16807762}" "" "C2200T" "" "Germline" "yes" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048835" "1" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Takemura 2001:11136179}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048836" "1" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Tosetto 2006:16822791}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048837" "1" "70" "X" "49854794" "49854794" "subst" "0" "01156" "CLCN5_000049" "g.49854794T>A" "" "{PMID:Tosetto 2009:19673950}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090137T>A" "" "likely pathogenic" "" "0000048838" "1" "90" "X" "49854804" "49854806" "del" "0" "01156" "CLCN5_000050" "g.49854804_49854806del" "" "{PMID:Park 2014:24912603}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090147_50090149del" "" "pathogenic" "" "0000048839" "1" "90" "X" "49854804" "49854806" "del" "0" "01156" "CLCN5_000050" "g.49854804_49854806del" "" "{PMID:Sekine 2014:24081861}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090147_50090149del" "" "pathogenic" "" "0000048840" "1" "90" "X" "49854804" "49854806" "del" "0" "01156" "CLCN5_000050" "g.49854804_49854806del" "" "{PMID:Wu 2009:19546591}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090147_50090149del" "" "pathogenic" "" "0000048841" "1" "90" "X" "49854804" "49854806" "del" "0" "01156" "CLCN5_000050" "g.49854804_49854806del" "" "Ramos-Trujillo 2013:Journal of Pediatric Genetics" "" "" "" "Unknown" "" "" "0" "" "" "g.50090147_50090149del" "" "pathogenic" "" "0000048842" "1" "70" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Akuta 1997:09328929}" "" "" "" "Unknown" "" "" "0" "" "" "g.50070007C>T" "" "likely pathogenic" "" "0000048843" "1" "90" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Dinour 2009:19546586}" "" "" "" "Unknown" "" "" "0" "" "" "g.50070007C>T" "" "pathogenic" "" "0000048844" "1" "70" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Hoopes 1998:09734595}" "" "" "" "Unknown" "" "" "0" "" "" "g.50070007C>T" "" "likely pathogenic" "" "0000048845" "1" "70" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Matsuyama 2004:15125028}" "" "" "" "Unknown" "" "" "0" "" "" "g.50070007C>T" "" "likely pathogenic" "" "0000048846" "1" "70" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Sekine 2014:24081861}" "" "" "" "Unknown" "" "" "0" "" "" "g.50070007C>T" "" "likely pathogenic" "" "0000048847" "1" "70" "X" "49845249" "49845249" "subst" "0" "01156" "CLCN5_000007" "g.49845249A>G" "" "{PMID:Sekine 2014:24081861}" "" "" "" "Unknown" "" "" "0" "" "" "g.50080592A>G" "" "likely pathogenic" "" "0000048848" "1" "70" "X" "49845249" "49845249" "subst" "0" "01156" "CLCN5_000007" "g.49845249A>G" "" "{PMID:Zhu 2010:20654030}" "" "" "" "Unknown" "" "" "0" "" "" "g.50080592A>G" "" "likely pathogenic" "" "0000048849" "1" "90" "X" "49855503" "49855503" "subst" "0" "01156" "CLCN5_000004" "g.49855503C>T" "" "{PMID:Cox 1999:10469281}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090846C>T" "" "pathogenic" "" "0000048850" "1" "90" "X" "49855503" "49855503" "subst" "0" "01156" "CLCN5_000004" "g.49855503C>T" "" "{PMID:Igarashi 1998:09853249}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090846C>T" "" "pathogenic" "" "0000048851" "1" "90" "X" "49855503" "49855503" "subst" "0" "01156" "CLCN5_000004" "g.49855503C>T" "" "{PMID:Langlois 1998:09811383}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090846C>T" "" "pathogenic" "" "0000048852" "1" "90" "X" "49855503" "49855503" "subst" "0" "01156" "CLCN5_000004" "g.49855503C>T" "" "{PMID:Nakazato 1999:09893114}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090846C>T" "" "pathogenic" "" "0000048853" "1" "90" "X" "49855503" "49855503" "subst" "0" "01156" "CLCN5_000004" "g.49855503C>T" "" "{PMID:Ramos-Trujillo 2007:18184518}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090846C>T" "" "pathogenic" "" "0000048854" "1" "90" "X" "49855503" "49855503" "subst" "0" "01156" "CLCN5_000004" "g.49855503C>T" "" "{PMID:Sekine 2014:24081861}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090846C>T" "" "pathogenic" "" "0000048855" "1" "90" "X" "49855503" "49855503" "subst" "0" "01156" "CLCN5_000004" "g.49855503C>T" "" "Ramos-Trujillo 2013:Journal of Pediatric Genetics" "" "" "" "Unknown" "" "" "0" "" "" "g.50090846C>T" "" "pathogenic" "" "0000048856" "1" "90" "X" "49834580" "49856877" "del" "0" "01156" "CLCN5_000000" "g.(?_49834580)_(49856877_?)del" "" "{PMID:Akuta 1997:09328929}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048857" "1" "90" "X" "49834580" "49856877" "del" "0" "01156" "CLCN5_000000" "g.(?_49834580)_(49856877_?)del" "" "{PMID:Sekine 2014:24081861}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048858" "1" "90" "X" "49855335" "49855335" "subst" "0" "01156" "CLCN5_000003" "g.49855335C>T" "" "{PMID:Blanchard 2008:18976849}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048859" "1" "90" "X" "49855335" "49855335" "subst" "0" "01156" "CLCN5_000003" "g.49855335C>T" "" "{PMID:Bosio 1999:10454773}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048860" "1" "90" "X" "49855335" "49855335" "subst" "0" "01156" "CLCN5_000003" "g.49855335C>T" "" "{PMID:Frishberg 2009:19806368}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048861" "1" "90" "X" "49855335" "49855335" "subst" "0" "01156" "CLCN5_000003" "g.49855335C>T" "" "{PMID:Igarashi 1998:09853249}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048862" "1" "90" "X" "49855335" "49855335" "subst" "0" "01156" "CLCN5_000003" "g.49855335C>T" "" "{PMID:Sekine 2014:24081861}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048863" "1" "90" "X" "49855335" "49855335" "subst" "0" "01156" "CLCN5_000003" "g.49855335C>T" "" "{PMID:Tosetto 2006:16822791}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048864" "1" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Anglani 2006:16416111}" "" "" "" "Unknown" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048865" "1" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Hoopes 1998:09734595}" "" "" "" "Unknown" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048866" "0" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Hoopes 2004:15086899}" "" "TCG>TTG S244L" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048867" "1" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Kelleher 1998:09452997}" "" "" "" "Unknown" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048868" "1" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Ludwig 2006:16807762}" "" "C1022T" "" "De novo" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048869" "1" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Oudet 1997:09187673}" "" "" "" "Unknown" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048870" "1" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Tosetto 2006:16822791}" "" "" "" "Unknown" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000058547" "0" "10" "X" "49851173" "49851173" "subst" "0.0116058" "01156" "CLCN5_000099" "g.49851173G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.993G>C" "" "Germline/De novo (untested)" "" "rs34122840" "0" "" "" "g.50086516G>C" "" "benign" "" "0000058549" "0" "10" "X" "49851173" "49851173" "subst" "0.0116058" "01156" "CLCN5_000099" "g.49851173G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.993G>C" "" "Germline/De novo (untested)" "" "rs34122840" "0" "" "" "g.50086516G>C" "" "benign" "" "0000058550" "0" "10" "X" "49851173" "49851173" "subst" "0.0116058" "01156" "CLCN5_000099" "g.49851173G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.993G>C" "" "Germline/De novo (untested)" "" "rs34122840" "0" "" "" "g.50086516G>C" "" "benign" "" "0000058554" "0" "00" "X" "49856814" "49856814" "del" "0" "01156" "CLCN5_000100" "g.49856814del" "" "{PMID:Sheffer-Babila 2008:18540256}" "" "" "" "Unknown" "" "" "0" "" "" "g.50092157del" "" "" "" "0000058555" "20" "70" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Lim 2007:17982249}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090490C>T" "" "likely pathogenic" "" "0000058556" "0" "70" "X" "49834672" "49834672" "del" "0" "01156" "CLCN5_000101" "g.49834672del" "" "{PMID:Fervenza 2013:23886564}" "" "" "" "Unknown" "" "" "0" "" "" "g.50070017del" "" "likely pathogenic" "" "0000058557" "0" "70" "X" "49854772" "49854772" "subst" "0" "01156" "CLCN5_000102" "g.49854772G>A" "" "{PMID:Cramer 2014:24810952}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090115G>A" "" "likely pathogenic" "" "0000058558" "0" "70" "X" "49855503" "49855503" "subst" "0" "01156" "CLCN5_000004" "g.49855503C>T" "" "{PMID:Cramer 2014:24810952}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090846C>T" "" "likely pathogenic" "" "0000058559" "0" "70" "X" "49846505" "49846505" "subst" "0" "01156" "CLCN5_000103" "g.49846505G>A" "" "{PMID:Cramer 2014:24810952}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081848G>A" "" "likely pathogenic" "" "0000058560" "0" "70" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Cramer 2014:24810952}" "" "" "" "Unknown" "" "" "0" "" "" "g.50070007C>T" "" "likely pathogenic" "" "0000058561" "0" "70" "X" "49854799" "49854799" "subst" "0" "01156" "CLCN5_000118" "g.49854799C>T" "" "{PMID:Cramer 2014:24810952}" "" "L521F" "" "Unknown" "" "" "0" "" "" "g.50090142C>T" "" "likely pathogenic" "" "0000058562" "0" "90" "X" "" "" "" "" "01156" "CLCN5_000000" "g.(?)" "" "{PMID:Cramer 2014:24810952}" "" "Val363fs" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000058563" "0" "30" "X" "49853459" "49853459" "subst" "0.000324903" "01156" "CLCN5_000104" "g.49853459C>T" "" "{PMID:Akuta 1997:9328929}" "" "" "" "Unknown" "" "" "0" "" "" "g.50088802C>T" "" "likely benign" "" "0000058564" "0" "30" "X" "49855077" "49855077" "subst" "0" "01156" "CLCN5_000105" "g.49855077T>C" "" "{PMID:Cheong 2005:15719255}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090420T>C" "" "likely benign" "" "0000058565" "0" "30" "X" "49854942" "49854942" "subst" "0.0162869" "01156" "CLCN5_000106" "g.49854942C>T" "" "{PMID:Hoopes 2004:15086899}" "" "CCC>CCT 568=" "" "Germline" "" "" "0" "" "" "g.50090285C>T" "" "likely benign" "" "0000058566" "0" "30" "X" "49854942" "49854942" "subst" "0.0162869" "01156" "CLCN5_000106" "g.49854942C>T" "" "{PMID:Tosetto 2006:16822791}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090285C>T" "" "likely benign" "" "0000058567" "0" "10" "X" "49854942" "49854942" "subst" "0.0162869" "01156" "CLCN5_000106" "g.49854942C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1704C>T" "" "Germline/De novo (untested)" "" "rs34173954" "0" "" "" "g.50090285C>T" "" "benign" "" "0000058568" "0" "10" "X" "49854942" "49854942" "subst" "0.0162869" "01156" "CLCN5_000106" "g.49854942C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1704C>T" "" "Germline/De novo (untested)" "" "rs34173954" "0" "" "" "g.50090285C>T" "" "benign" "" "0000058569" "0" "70" "X" "49837127" "49837127" "subst" "0.006301" "01156" "CLCN5_000107" "g.49837127T>G" "" "{PMID:Forino 2004:14673707}" "" "IVS2–17T>G" "" "De novo" "" "" "0" "" "" "g.50072472T>G" "" "likely pathogenic" "" "0000058581" "1" "50" "X" "49850602" "49850602" "subst" "0" "01156" "CLCN5_000109" "g.49850602T>G" "" "" "" "IVS6-35G" "" "Germline" "" "" "0" "" "" "g.50085945T>G" "" "VUS" "" "0000058584" "0" "50" "X" "49853341" "49853341" "subst" "0.0420182" "01156" "CLCN5_000110" "g.49853341G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1348-14G>C" "" "Germline/De novo (untested)" "" "rs7063765" "0" "" "" "g.50088684G>C" "" "VUS" "" "0000058585" "0" "50" "X" "49853341" "49853341" "subst" "0.0420182" "01156" "CLCN5_000110" "g.49853341G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1348-14G>C" "" "Germline/De novo (untested)" "" "rs7063765" "0" "" "" "g.50088684G>C" "" "VUS" "" "0000058586" "0" "50" "X" "49853341" "49853341" "subst" "0.0420182" "01156" "CLCN5_000110" "g.49853341G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1348-14G>C" "" "Germline/De novo (untested)" "" "rs7063765" "0" "" "" "g.50088684G>C" "" "VUS" "" "0000058587" "0" "50" "X" "49854720" "49854720" "subst" "0" "01156" "CLCN5_000111" "g.49854720G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1535-53G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090063G>A" "" "VUS" "" "0000058588" "0" "50" "X" "49855267" "49855267" "subst" "0" "01156" "CLCN5_000112" "g.49855267G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1934-60G>A" "" "Germline/De novo (untested)" "" "rs150713901" "0" "" "" "g.50090610G>A" "" "VUS" "" "0000058589" "0" "50" "X" "49856719" "49856719" "subst" "0" "01156" "CLCN5_000113" "g.49856719C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2151-67C>T" "" "Germline/De novo (untested)" "" "rs56041343" "0" "" "" "g.50092062C>T" "" "VUS" "" "0000058590" "0" "50" "X" "49856719" "49856719" "subst" "0" "01156" "CLCN5_000113" "g.49856719C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2151-67C>T" "" "Germline/De novo (untested)" "" "rs56041343" "0" "" "" "g.50092062C>T" "" "VUS" "" "0000058591" "0" "50" "X" "49840444" "49840444" "subst" "0.00430832" "01156" "CLCN5_000108" "g.49840444A>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.206-6A>T" "" "Germline/De novo (untested)" "" "rs6651602" "0" "" "" "g.50075789A>T" "" "VUS" "" "0000058592" "0" "50" "X" "49856719" "49856719" "subst" "0" "01156" "CLCN5_000113" "g.49856719C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2151-67C>T" "" "Germline/De novo (untested)" "" "rs56041343" "0" "" "" "g.50092062C>T" "" "VUS" "" "0000058593" "0" "50" "X" "49856898" "49856898" "subst" "0" "01156" "CLCN5_000114" "g.49856898A>G" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.*22A>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50092241A>G" "" "VUS" "" "0000058594" "21" "70" "X" "49856768" "49856768" "subst" "0.000588738" "01156" "CLCN5_000115" "g.49856768A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50092111A>G" "" "likely pathogenic" "" "0000058595" "0" "50" "X" "49853341" "49853341" "subst" "0.0420182" "01156" "CLCN5_000110" "g.49853341G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1348-14G>C" "" "Germline/De novo (untested)" "" "rs7063765" "0" "" "" "g.50088684G>C" "" "VUS" "" "0000058596" "0" "50" "X" "49853341" "49853341" "subst" "0.0420182" "01156" "CLCN5_000110" "g.49853341G>C" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.1348-14G>C" "" "Germline/De novo (untested)" "" "rs7063765" "0" "" "" "g.50088684G>C" "" "VUS" "" "0000058597" "0" "70" "X" "49834101" "49834101" "subst" "0" "01156" "CLCN5_000116" "g.49834101G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50069446G>A" "" "likely pathogenic" "" "0000118935" "20" "90" "X" "49846506" "49846506" "subst" "0" "01606" "CLCN5_000119" "g.49846506T>C" "" "{PMID:Ji 2014:25124980}, {DOI:Ji 2014:10.1007/s12519-014-0504-y}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50081849T>C" "" "pathogenic (recessive)" "" "0000256067" "0" "50" "X" "49807005" "49807005" "subst" "0" "01943" "CLCN5_000134" "g.49807005A>G" "" "" "" "CLCN5(NM_001127899.3):c.97A>G (p.I33V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50042396A>G" "" "VUS" "" "0000270250" "0" "90" "X" "49853392" "49853392" "subst" "0" "02326" "CLCN5_000125" "g.49853392G>A" "" "" "" "CLCN5(NM_000084.5):c.1385G>A (p.G462D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50088735G>A" "" "pathogenic" "" "0000270251" "0" "10" "X" "49856719" "49856719" "subst" "0" "02326" "CLCN5_000113" "g.49856719C>T" "" "" "" "CLCN5(NM_000084.5):c.2151-67C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50092062C>T" "" "benign" "" "0000273593" "0" "30" "X" "49834394" "49834394" "subst" "0" "01943" "CLCN5_000120" "g.49834394T>C" "" "" "" "CLCN5(NM_001282163.1):c.8T>C (p.L3P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50069739T>C" "" "likely benign" "" "0000334128" "0" "50" "X" "49837160" "49837160" "subst" "3.3577E-5" "01804" "CLCN5_000121" "g.49837160A>G" "" "" "" "CLCN5(NM_000084.2):c.122A>G (p.(Lys41Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50072505A>G" "" "VUS" "" "0000334129" "0" "50" "X" "49840588" "49840588" "subst" "0.000346995" "01804" "CLCN5_000122" "g.49840588A>G" "" "" "" "CLCN5(NM_000084.2):c.344A>G (p.(Lys115Arg)), CLCN5(NM_000084.5):c.344A>G (p.K115R), CLCN5(NM_001127899.3):c.554A>G (p.K185R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50075933A>G" "" "VUS" "" "0000334130" "0" "50" "X" "49851084" "49851084" "subst" "6.72834E-5" "01804" "CLCN5_000123" "g.49851084C>T" "" "" "" "CLCN5(NM_000084.2):c.904C>T (p.(Arg302Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50086427C>T" "" "VUS" "" "0000334131" "0" "50" "X" "49851214" "49851214" "subst" "0.00029734" "01804" "CLCN5_000124" "g.49851214G>A" "" "" "" "CLCN5(NM_000084.2):c.1034G>A (p.(Arg345Gln)), CLCN5(NM_001127899.3):c.1244G>A (p.R415Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50086557G>A" "" "VUS" "" "0000338331" "0" "10" "X" "49837127" "49837127" "subst" "0.006301" "02327" "CLCN5_000107" "g.49837127T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50072472T>G" "" "benign" "" "0000338332" "0" "90" "X" "49855325" "49855325" "subst" "0" "02327" "CLCN5_000131" "g.49855325A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50090668A>G" "" "pathogenic" "" "0000341492" "0" "50" "X" "49853415" "49853415" "subst" "0" "02327" "CLCN5_000129" "g.49853415G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50088758G>C" "" "VUS" "" "0000342696" "0" "90" "X" "49851219" "49851219" "subst" "0" "02327" "CLCN5_000037" "g.49851219C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000342951" "0" "90" "X" "49853406" "49853406" "subst" "0" "02327" "CLCN5_000041" "g.49853406C>T" "" "" "" "CLCN5(NM_000084.2):c.1399C>T (p.(Arg467Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50088749C>T" "" "pathogenic" "" "0000343198" "0" "90" "X" "49855147" "49855147" "subst" "0" "02327" "CLCN5_000059" "g.49855147C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000346172" "0" "90" "X" "49837207" "49837207" "subst" "0" "02327" "CLCN5_000126" "g.49837207G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50072552G>C" "" "pathogenic" "" "0000348012" "0" "50" "X" "49851024" "49851024" "subst" "0" "02327" "CLCN5_000128" "g.49851024T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50086367T>C" "" "VUS" "" "0000348930" "0" "90" "X" "49850644" "49850644" "subst" "0" "02327" "CLCN5_000005" "g.49850644C>T" "" "" "" "CLCN5(NM_000084.5):c.731C>T (p.S244L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000349551" "0" "50" "X" "49854824" "49854824" "subst" "0" "02327" "CLCN5_000130" "g.49854824C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50090167C>G" "" "VUS" "" "0000350019" "0" "50" "X" "49850995" "49850995" "subst" "0" "02327" "CLCN5_000127" "g.49850995A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50086338A>G" "" "VUS" "" "0000576439" "0" "50" "X" "49834622" "49834622" "subst" "0" "01943" "CLCN5_000135" "g.49834622T>G" "" "" "" "CLCN5(NM_001127899.3):c.252T>G (p.Y84*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50069967T>G" "" "VUS" "" "0000576440" "0" "50" "X" "49845264" "49845264" "subst" "0" "01804" "CLCN5_000136" "g.49845264A>G" "" "" "" "CLCN5(NM_000084.2):c.407A>G (p.(Tyr136Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50080607A>G" "" "VUS" "" "0000576441" "0" "70" "X" "49845378" "49845378" "subst" "0" "02327" "CLCN5_000137" "g.49845378G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50080721G>C" "" "likely pathogenic" "" "0000576442" "0" "30" "X" "49851214" "49851214" "subst" "0.00029734" "01943" "CLCN5_000124" "g.49851214G>A" "" "" "" "CLCN5(NM_000084.2):c.1034G>A (p.(Arg345Gln)), CLCN5(NM_001127899.3):c.1244G>A (p.R415Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50086557G>A" "" "likely benign" "" "0000576443" "0" "30" "X" "49851397" "49851397" "subst" "5.59998E-6" "01804" "CLCN5_000138" "g.49851397G>A" "" "" "" "CLCN5(NM_000084.2):c.1217G>A (p.(Arg406His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50086740G>A" "" "likely benign" "" "0000576444" "0" "90" "X" "49855335" "49855335" "subst" "0" "01943" "CLCN5_000003" "g.49855335C>T" "" "" "" "CLCN5(NM_001127899.3):c.2152C>T (p.R718*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50090678C>T" "" "pathogenic" "" "0000576445" "0" "90" "X" "49855335" "49855335" "subst" "0" "02327" "CLCN5_000003" "g.49855335C>T" "" "" "" "CLCN5(NM_001127899.3):c.2152C>T (p.R718*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50090678C>T" "" "pathogenic" "" "0000576446" "0" "30" "X" "49856856" "49856856" "subst" "0" "01804" "CLCN5_000139" "g.49856856G>A" "" "" "" "CLCN5(NM_000084.2):c.2221G>A (p.(Asp741Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50092199G>A" "" "likely benign" "" "0000652931" "1" "10" "X" "49859736" "49859736" "subst" "0" "03575" "CLCN5_000140" "g.49859736T>C" "119/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "119 heterozygous; {DB:CLININkgp22731485}" "Germline" "" "" "0" "" "" "g.50095079T>C" "" "benign" "" "0000659366" "0" "30" "X" "49840588" "49840588" "subst" "0.000346995" "01943" "CLCN5_000122" "g.49840588A>G" "" "" "" "CLCN5(NM_000084.2):c.344A>G (p.(Lys115Arg)), CLCN5(NM_000084.5):c.344A>G (p.K115R), CLCN5(NM_001127899.3):c.554A>G (p.K185R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50075933A>G" "" "likely benign" "" "0000659367" "0" "70" "X" "49850686" "49850686" "subst" "0" "02325" "CLCN5_000141" "g.49850686C>G" "" "" "" "CLCN5(NM_001127899.4):c.983C>G (p.P328R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50086029C>G" "" "likely pathogenic" "" "0000659368" "0" "50" "X" "49851192" "49851192" "subst" "3.92199E-5" "02327" "CLCN5_000142" "g.49851192C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50086535C>T" "" "VUS" "" "0000659369" "0" "50" "X" "49851286" "49851286" "subst" "0" "02327" "CLCN5_000143" "g.49851286T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50086629T>C" "" "VUS" "" "0000670129" "0" "10" "X" "49859736" "49859736" "subst" "0" "03575" "CLCN5_000140" "g.49859736T>C" "71/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "71 homozygous; {DB:CLININkgp22731485}" "Germline" "" "" "0" "" "" "g.50095079T>C" "" "benign" "" "0000682492" "0" "30" "X" "49845287" "49845287" "subst" "2.80272E-5" "01943" "CLCN5_000144" "g.49845287G>A" "" "" "" "CLCN5(NM_001127899.3):c.640G>A (p.V214I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682493" "0" "30" "X" "49854900" "49854900" "subst" "2.80518E-5" "01943" "CLCN5_000145" "g.49854900G>A" "" "" "" "CLCN5(NM_001127899.3):c.1872G>A (p.R624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683627" "0" "50" "X" "49855130" "49855130" "subst" "5.79774E-6" "01164" "CLCN5_000146" "g.49855130T>C" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "rs782795970" "0" "" "" "" "" "VUS" "ACMG" "0000693646" "0" "30" "X" "49856768" "49856768" "subst" "0.000588738" "02326" "CLCN5_000115" "g.49856768A>G" "" "" "" "CLCN5(NM_001127899.4):c.2361-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000714448" "0" "99" "X" "49850695" "49850695" "subst" "0" "01156" "CLCN5_000147" "g.49850695G>A" "" "{PMID:Bogdanovic 2010:20680351}" "" "" "" "De novo" "" "" "0" "" "" "g.50086038G>A" "" "pathogenic" "ACMG" "0000714450" "0" "77" "X" "49850709" "49850709" "subst" "0" "01156" "CLCN5_000148" "g.49850709C>G" "" "{PMID:Sekine 2014:24081861}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000714451" "0" "00" "X" "49850712" "49850712" "subst" "0" "01156" "CLCN5_000149" "g.49850712G>A" "" "{PMID:Ashton 2018:29398133}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000714452" "0" "70" "X" "49850988" "49850988" "subst" "0" "01156" "CLCN5_000150" "g.49850988A>G" "" "{PMID:Hoopes 2004:15086899}" "" "AGC>GGC S270G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086331A>G" "" "likely pathogenic" "" "0000714453" "0" "77" "X" "49850994" "49850994" "subst" "0" "01156" "CLCN5_000151" "g.49850994T>A" "" "{PMID:Sekine 2014:24081861}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000728999" "0" "30" "X" "49840643" "49840644" "del" "2.24832E-5" "01943" "CLCN5_000152" "g.49840643_49840644del" "" "" "" "CLCN5(NM_001127899.3):c.603+6_603+7delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729000" "0" "90" "X" "49845250" "49845250" "subst" "0" "02327" "CLCN5_000153" "g.49845250G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000729001" "0" "30" "X" "49855035" "49855035" "subst" "2.80326E-5" "01943" "CLCN5_000154" "g.49855035T>C" "" "" "" "CLCN5(NM_001127899.3):c.2007T>C (p.T669=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729002" "0" "90" "X" "49855172" "49855172" "subst" "0" "02327" "CLCN5_000155" "g.49855172G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810483" "0" "90" "X" "49837146" "49837146" "del" "0" "02329" "CLCN5_000158" "g.49837146del" "" "" "" "CLCN5(NM_000084.5):c.108delT (p.T37Pfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810485" "0" "50" "X" "49846497" "49846497" "subst" "7.0107E-5" "01943" "CLCN5_000160" "g.49846497G>A" "" "" "" "CLCN5(NM_001127899.3):c.926G>A (p.R309H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810486" "0" "30" "X" "49850645" "49850645" "subst" "8.9746E-5" "01943" "CLCN5_000161" "g.49850645G>A" "" "" "" "CLCN5(NM_001127899.3):c.942G>A (p.S314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000830447" "0" "90" "X" "49851175" "49851175" "subst" "0" "00006" "CLCN5_000162" "g.49851175G>A" "" "{PMID:Guven 2017:28383812}" "" "" "" "Germline" "" "" "0" "" "" "g.50086518G>A" "" "pathogenic (dominant)" "" "0000830448" "0" "90" "X" "49851175" "49851175" "subst" "0" "00006" "CLCN5_000162" "g.49851175G>A" "" "{PMID:Guven 2017:28383812}" "" "" "" "Germline" "" "" "0" "" "" "g.50086518G>A" "" "pathogenic (dominant)" "" "0000856678" "0" "50" "X" "49807055" "49807055" "subst" "1.19185E-5" "01943" "CLCN5_000163" "g.49807055A>C" "" "" "" "CLCN5(NM_001127899.3):c.147A>C (p.L49F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856679" "0" "30" "X" "49834537" "49834537" "subst" "0" "01943" "CLCN5_000165" "g.49834537A>G" "" "" "" "CLCN5(NM_001127899.3):c.167A>G (p.D56G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856680" "0" "90" "X" "49851486" "49851486" "dup" "0" "02326" "CLCN5_000167" "g.49851486dup" "" "" "" "CLCN5(NM_000084.5):c.1306dupA (p.I436Nfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856681" "0" "30" "X" "49855363" "49855363" "subst" "0.000183117" "01943" "CLCN5_000168" "g.49855363C>G" "" "" "" "CLCN5(NM_001127899.3):c.2180C>G (p.T727S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867439" "0" "30" "X" "49834528" "49834528" "subst" "0" "01943" "CLCN5_000164" "g.49834528A>T" "" "" "" "CLCN5(NM_001127899.3):c.164-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867440" "0" "30" "X" "49851443" "49851443" "subst" "0.000314962" "01943" "CLCN5_000166" "g.49851443C>T" "" "" "" "CLCN5(NM_001127899.3):c.1473C>T (p.G491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867441" "0" "70" "X" "49853406" "49853406" "subst" "0" "01804" "CLCN5_000041" "g.49853406C>T" "" "" "" "CLCN5(NM_000084.2):c.1399C>T (p.(Arg467Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000873492" "0" "70" "X" "49850696" "49850703" "dup" "0" "00000" "CLCN5_000169" "g.49850696_49850703dup" "136" "{PMID:Sun 2018:30076350}" "" "CLCN5 (NM_001127899.1):c.992_993insAGTATTAT(p.F334Xfs*1)" "different transcript: CLCN5 (NM_001127899.1):c.992_993insAGTATTAT(p.F334Xfs*1)" "Germline/De novo (untested)" "?" "" "0" "" "" "g.50086039_50086046dup" "" "likely pathogenic" "" "0000896282" "0" "30" "X" "49840444" "49840444" "subst" "0.00430832" "01804" "CLCN5_000108" "g.49840444A>T" "" "" "" "CLCN5(NM_000084.2):c.206-6A>T (p.(=)), CLCN5(NM_000084.5):c.206-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896283" "0" "10" "X" "49845283" "49845283" "subst" "0.00205906" "02326" "CLCN5_000170" "g.49845283G>A" "" "" "" "CLCN5(NM_000084.5):c.426G>A (p.M142I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896284" "0" "70" "X" "49850989" "49850989" "subst" "0" "02326" "CLCN5_000171" "g.49850989G>A" "" "" "" "CLCN5(NM_000084.5):c.809G>A (p.S270N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000896285" "0" "30" "X" "49851227" "49851227" "subst" "0.000819488" "02326" "CLCN5_000172" "g.49851227C>T" "" "" "" "CLCN5(NM_000084.5):c.1047C>T (p.T349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896286" "0" "70" "X" "49854775" "49854775" "subst" "0" "02327" "CLCN5_000173" "g.49854775G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915733" "0" "10" "X" "49840444" "49840444" "subst" "0.00430832" "02326" "CLCN5_000108" "g.49840444A>T" "" "" "" "CLCN5(NM_000084.2):c.206-6A>T (p.(=)), CLCN5(NM_000084.5):c.206-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915734" "0" "30" "X" "49845243" "49845243" "subst" "1.72097E-5" "02326" "CLCN5_000174" "g.49845243T>C" "" "" "" "CLCN5(NM_000084.5):c.394-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915735" "0" "50" "X" "49846473" "49846473" "subst" "0" "02327" "CLCN5_000175" "g.49846473A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915736" "0" "90" "X" "49850644" "49850644" "subst" "0" "02326" "CLCN5_000005" "g.49850644C>T" "" "" "" "CLCN5(NM_000084.5):c.731C>T (p.S244L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915737" "0" "50" "X" "49851247" "49851247" "subst" "0" "02326" "CLCN5_000176" "g.49851247C>T" "" "" "" "CLCN5(NM_000084.5):c.1067C>T (p.P356L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915738" "0" "50" "X" "49855431" "49855431" "subst" "5.61479E-6" "02326" "CLCN5_000177" "g.49855431C>T" "" "" "" "CLCN5(NM_000084.5):c.2038C>T (p.R680W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927395" "0" "30" "X" "49846390" "49846390" "subst" "0.002728" "02326" "CLCN5_000178" "g.49846390G>A" "" "" "" "CLCN5(NM_000084.5):c.609G>A (p.S203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931432" "0" "90" "X" "49834591" "49834591" "del" "0" "02326" "CLCN5_000179" "g.49834591del" "" "" "" "CLCN5(NM_000084.5):c.11delT (p.L4Wfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931433" "0" "30" "X" "49840588" "49840588" "subst" "0.000346995" "02326" "CLCN5_000122" "g.49840588A>G" "" "" "" "CLCN5(NM_000084.2):c.344A>G (p.(Lys115Arg)), CLCN5(NM_000084.5):c.344A>G (p.K115R), CLCN5(NM_001127899.3):c.554A>G (p.K185R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931434" "0" "70" "X" "49853413" "49853413" "subst" "0" "02327" "CLCN5_000042" "g.49853413T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006834" "0" "30" "X" "49834538" "49834538" "subst" "0" "01804" "CLCN5_000180" "g.49834538C>A" "" "" "" "CLCN5(NM_001127899.2):c.168C>A (p.(Asp56Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016041" "0" "50" "X" "49834632" "49834632" "subst" "0" "02327" "CLCN5_000181" "g.49834632A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044384" "0" "70" "X" "49854817" "49854817" "subst" "0" "02326" "CLCN5_000182" "g.49854817G>C" "" "" "" "CLCN5(NM_000084.5):c.1579G>C (p.E527Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046869" "0" "70" "X" "49854824" "49854824" "subst" "0" "02326" "CLCN5_000183" "g.49854824C>T" "" "" "" "CLCN5(NM_000084.5):c.1586C>T (p.T529I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001074717" "0" "90" "X" "49840637" "49840637" "subst" "0" "00006" "CLCN5_000190" "g.49840637G>A" "" "{PMID:Lyu 2026:42006202}" "" "" "ACMG PVS1, PM2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.50075982G>A" "" "pathogenic (recessive)" "" "0001074718" "0" "90" "X" "49853413" "49853413" "subst" "0" "00006" "CLCN5_000195" "g.49853413T>G" "" "{PMID:Lyu 2026:42006202}" "" "" "ACMG PP4, PM2, PP3, PM5" "Germline/De novo (untested)" "" "" "0" "" "" "g.50088756T>G" "" "pathogenic (recessive)" "" "0001074719" "0" "70" "X" "49855003" "49855003" "del" "0" "00006" "CLCN5_000198" "g.49855003del" "" "{PMID:Lyu 2026:42006202}" "" "" "ACMG PVS1, PM2, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090346del" "" "likely pathogenic (recessive)" "" "0001074720" "0" "90" "X" "49855411" "49855745" "del" "0" "00006" "CLCN5_000200" "g.49855411_49855745del" "" "{PMID:Lyu 2026:42006202}" "" "" "ACMG 1A, 2A-2E, 3A" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090754_50091088del" "" "pathogenic (recessive)" "" "0001074721" "0" "90" "X" "49834685" "49834685" "subst" "0" "00006" "CLCN5_000010" "g.49834685G>A" "" "{PMID:Inoue 2020:32201916}" "" "" "effect on RNA studied using mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.50070030G>A" "" "NA" "" "0001074722" "0" "90" "X" "49834690" "49834690" "subst" "0" "00006" "CLCN5_000184" "g.49834690G>C" "" "{PMID:Inoue 2020:32201916}" "" "" "effect on RNA studied using mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.50070035G>C" "" "NA" "" "0001074723" "0" "30" "X" "49837127" "49837127" "subst" "0.006301" "00006" "CLCN5_000107" "g.49837127T>G" "" "{PMID:Inoue 2020:32201916}" "" "" "effect on RNA studied using mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.50072472T>G" "" "NA" "" "0001074724" "0" "90" "X" "49840641" "49840641" "subst" "0" "00006" "CLCN5_000092" "g.49840641A>G" "" "{PMID:Inoue 2020:32201916}" "" "" "effect on RNA studied using mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.50075986A>G" "" "NA" "" "0001074725" "0" "90" "X" "49846290" "49846290" "subst" "0" "00006" "CLCN5_000018" "g.49846290A>G" "" "{PMID:Inoue 2020:32201916}" "" "" "effect on RNA studied using mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.50081633A>G" "" "NA" "" "0001074726" "0" "90" "X" "49846295" "49846295" "subst" "0" "00006" "CLCN5_000191" "g.49846295C>A" "" "{PMID:Inoue 2020:32201916}" "" "" "effect on RNA studied using mini-gene splicing assay" "In vitro (cloned)" "" "" "0" "" "" "g.50081638C>A" "" "NA" "" "0001074738" "0" "90" "X" "49854773" "49854773" "subst" "0" "00006" "CLCN5_000087" "g.49854773G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.4:c.1535G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090116G>A" "" "pathogenic (recessive)" "" "0001074739" "0" "90" "X" "49850694" "49850694" "subst" "0" "00006" "CLCN5_000083" "g.49850694G>A" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.781G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086037G>A" "" "pathogenic (recessive)" "" "0001074740" "0" "90" "X" "49854773" "49854773" "subst" "0" "00006" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.4:c.1909C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic (recessive)" "" "0001074741" "0" "90" "X" "49854773" "49854773" "subst" "0" "00006" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.4:c.1909C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic (recessive)" "" "0001074742" "0" "90" "X" "49854773" "49854773" "subst" "0" "00006" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.4:c.1909C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic (recessive)" "" "0001074743" "0" "90" "X" "49855503" "49855503" "subst" "0" "00006" "CLCN5_000004" "g.49855503C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.2:c.2110C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090846C>T" "" "pathogenic (recessive)" "" "0001074744" "0" "90" "X" "49854773" "49854773" "subst" "0" "00006" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Mansour-Hendili 2015:25907713}" "" "NM_000084.4:c.1909C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic (recessive)" "" "0001074747" "0" "90" "X" "49834680" "49834680" "subst" "0" "00006" "CLCN5_000186" "g.49834680C>T" "" "{PMID:Ludwig 2006:16807762}" "" "C391T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50070025C>T" "" "NA" "" "0001074748" "0" "90" "X" "49837172" "49837172" "subst" "0" "00006" "CLCN5_000187" "g.49837172G>A" "" "{PMID:Ludwig 2006:16807762}" "" "G425A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50072517G>A" "" "NA" "" "0001074749" "21" "30" "X" "49840507" "49840507" "subst" "0" "00006" "CLCN5_000188" "g.49840507G>A" "" "{PMID:Ludwig 2006:16807762}" "" "G554A" "" "Germline" "yes" "" "0" "" "" "g.50075852G>A" "" "NA" "" "0001074750" "0" "90" "X" "49840528" "49840528" "subst" "0" "00006" "CLCN5_000189" "g.49840528G>A" "" "{PMID:Ludwig 2006:16807762}" "" "G575A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50075873G>A" "" "NA" "" "0001074751" "0" "90" "X" "49846442" "49846442" "subst" "0" "00006" "CLCN5_000024" "g.49846442T>C" "" "{PMID:Ludwig 2006:16807762}" "" "T952C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50081785T>C" "" "NA" "" "0001074752" "21" "90" "X" "49851151" "49851151" "subst" "0" "00006" "CLCN5_000192" "g.49851151T>G" "" "{PMID:Ludwig 2006:16807762}" "" "T1262G" "" "Germline" "yes" "" "0" "" "" "g.50086494T>G" "" "NA" "" "0001074753" "21" "50" "X" "49851175" "49851175" "subst" "0" "00006" "CLCN5_000162" "g.49851175G>A" "" "{PMID:Ludwig 2006:16807762}" "" "G1286A" "" "Germline" "yes" "" "0" "" "" "g.50086518G>A" "" "VUS" "" "0001074754" "21" "30" "X" "49851219" "49851219" "subst" "0" "00006" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Ludwig 2006:16807762}" "" "C1330T" "" "Germline" "yes" "" "0" "" "" "g.50086562C>T" "" "likely benign" "" "0001074755" "0" "50" "X" "49851219" "49851219" "subst" "0" "00006" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Ludwig 2006:16807762}" "" "C1330T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086562C>T" "" "VUS" "" "0001074756" "0" "30" "X" "49851219" "49851219" "subst" "0" "00006" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Ludwig 2006:16807762}" "" "C1330T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086562C>T" "" "likely benign" "" "0001074757" "21" "50" "X" "49853392" "49853392" "subst" "0" "00006" "CLCN5_000194" "g.49853392G>T" "" "{PMID:Ludwig 2006:16807762}" "" "G1676T" "" "Germline" "yes" "" "0" "" "" "g.50088735G>T" "" "VUS" "" "0001074758" "21" "30" "X" "49853406" "49853406" "subst" "0" "00006" "CLCN5_000041" "g.49853406C>T" "" "{PMID:Ludwig 2006:16807762}" "" "C1690T" "" "Germline" "yes" "" "0" "" "" "g.50088749C>T" "" "likely benign" "" "0001074759" "21" "50" "X" "49854788" "49854788" "dup" "0" "00006" "CLCN5_000196" "g.49854788dup" "" "{PMID:Ludwig 2006:16807762}" "" "1842insT" "" "Germline" "yes" "" "0" "" "" "g.50090131dup" "" "VUS" "" "0001074760" "0" "50" "X" "49854799" "49854800" "del" "0" "00006" "CLCN5_000197" "g.49854799_49854800del" "" "{PMID:Ludwig 2006:16807762}" "" "1853-54delTT" "" "De novo" "yes" "" "0" "" "" "g.50090142_50090143del" "" "VUS" "" "0001074761" "0" "50" "X" "49854799" "49854800" "del" "0" "00006" "CLCN5_000197" "g.49854799_49854800del" "" "{PMID:Ludwig 2006:16807762}" "" "1853-54delTT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090142_50090143del" "" "VUS" "" "0001074762" "0" "50" "X" "49856808" "49856808" "subst" "0" "00006" "CLCN5_000201" "g.49856808A>G" "" "{PMID:Ludwig 2006:16807762}" "" "A2462G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50092151A>G" "" "VUS" "" "0001074764" "0" "50" "X" "49854880" "49854880" "subst" "3.9254E-5" "00006" "CLCN5_000185" "g.49854880G>A" "" "{PMID:Yasar 2024:39582457}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090223G>A" "" "likely benign" "" "0001074765" "0" "90" "X" "49851528" "49851528" "subst" "0" "00006" "CLCN5_000093" "g.49851528G>T" "" "{PMID:Yasar 2024:39582457}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086871G>T" "" "pathogenic (recessive)" "" "0001074807" "0" "50" "X" "49851396" "49851396" "subst" "1.67999E-5" "00006" "CLCN5_000193" "g.49851396C>T" "1/312 cases" "{PMID:Rush 2022:34633109}" "" "NM_000084.5:c.1126C>T" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086739C>T" "" "VUS" "" "0001074808" "0" "50" "X" "49855381" "49855381" "subst" "3.40277E-5" "00006" "CLCN5_000199" "g.49855381C>T" "1/312 cases" "{PMID:Rush 2022:34633109}" "" "NM_000084.5:c.1988C>T" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090724C>T" "" "VUS" "" "0001075543" "0" "90" "X" "49850644" "49850644" "subst" "0" "00006" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Hoopes 2004:15086899}" "" "TCG>TTG S244L" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0001075544" "0" "90" "X" "49850644" "49850644" "subst" "0" "00006" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Hoopes 2004:15086899}" "" "TCG>TTG S244L" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0001075545" "0" "90" "X" "49850713" "49850713" "subst" "0" "00006" "CLCN5_000205" "g.49850713A>C" "" "{PMID:Hoopes 2004:15086899}" "" "GAA>GCA E267A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086056A>C" "" "pathogenic" "" "0001075546" "0" "90" "X" "49853392" "49853392" "subst" "0" "00006" "CLCN5_000125" "g.49853392G>A" "" "{PMID:Hoopes 2004:15086899}" "" "GGT>GAT G462D" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50088735G>A" "" "pathogenic" "" "0001075547" "0" "90" "X" "49854775" "49854775" "subst" "0" "00006" "CLCN5_000173" "g.49854775G>A" "" "{PMID:Hoopes 2004:15086899}" "" "GGG>AGG G513R" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090118G>A" "" "pathogenic" "" "0001075548" "0" "90" "X" "49854872" "49854872" "subst" "0" "00006" "CLCN5_000207" "g.49854872G>A" "" "{PMID:Hoopes 2004:15086899}" "" "AGC>AAC S545N" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090215G>A" "" "pathogenic" "" "0001075549" "0" "90" "X" "49855363" "49855363" "subst" "0.000183117" "00006" "CLCN5_000168" "g.49855363C>G" "" "{PMID:Hoopes 2004:15086899}" "" "ACT>AGT T657S" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090706C>G" "" "pathogenic" "" "0001075550" "0" "90" "X" "49837172" "49837172" "subst" "0" "00006" "CLCN5_000187" "g.49837172G>A" "" "{PMID:Hoopes 2004:15086899}" "" "TGG>TAG W45X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50072517G>A" "" "pathogenic" "" "0001075551" "0" "90" "X" "49846444" "49846444" "subst" "0" "00006" "CLCN5_000204" "g.49846444T>A" "" "{PMID:Hoopes 2004:15086899}" "" "TGT>TGA C221X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50081787T>A" "" "pathogenic" "" "0001075552" "0" "90" "X" "49856787" "49856787" "subst" "0" "00006" "CLCN5_000064" "g.49856787C>T" "" "{PMID:Hoopes 2004:15086899}" "" "CGA>TGA R718X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50092130C>T" "" "pathogenic" "" "0001075553" "0" "90" "X" "49855454" "49855454" "del" "0" "00006" "CLCN5_000203" "g.49855454del" "" "{PMID:Hoopes 2004:15086899}" "" "CCC>CC- Cdel 687fs" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090797del" "" "pathogenic" "" "0001075554" "0" "90" "X" "49855472" "49855472" "dup" "0" "00006" "CLCN5_000202" "g.49855472dup" "" "{PMID:Hoopes 2004:15086899}" "" "ACA>TACA Tins 694fs" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090815dup" "" "pathogenic" "" "0001075555" "0" "90" "X" "49855123" "49855123" "subst" "0" "00006" "CLCN5_000208" "g.49855123C>T" "" "{PMID:Tang 2016:27117801}" "" "NM_000084:c.1885C>T (Q629X)" "functional analysis shows variant abolished anion conductance sequence" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090466C>T" "" "pathogenic" "" "0001075556" "0" "90" "X" "49855123" "49855123" "subst" "0" "00006" "CLCN5_000208" "g.49855123C>T" "" "{PMID:Tang 2016:27117801}" "" "NM_000084:c.1885C>T (Q629X)" "functional analysis shows variant abolished anion conductance sequence" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090466C>T" "" "pathogenic" "" "0001075557" "0" "90" "X" "49850644" "49850644" "subst" "0" "00006" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Tang 2016:27117801}" "" "NM_000084:c.731C>T (S244L)" "functional analysis shows variant abolished anion conductance sequence" "Germline/De novo (untested)" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0001075558" "0" "90" "X" "49850644" "49850644" "subst" "0" "00006" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Tang 2016:27117801}" "" "NM_000084:c.731C>T (S244L)" "functional analysis shows variant abolished anion conductance sequence" "Germline/De novo (untested)" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0001075559" "0" "90" "X" "49851213" "49851213" "subst" "2.24415E-5" "00006" "CLCN5_000206" "g.49851213C>T" "" "{PMID:Tang 2016:27117801}" "" "NM_000084:c.1033C>T (R345W)" "functional analysis shows variant does not abolish anion conductance sequence" "Germline/De novo (untested)" "" "" "0" "" "" "g.50086556C>T" "" "pathogenic" "" "0001075560" "0" "10" "X" "49855363" "49855363" "subst" "0.000183117" "00006" "CLCN5_000168" "g.49855363C>G" "" "{PMID:Tang 2016:27117801}" "" "NM_000084:c.1970C>G (T657S)" "functional analysis shows variant does not abolish anion conductance sequence" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090706C>G" "" "benign" "" ## 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 CLCN5 ## Count = 383 "{{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}}" "0000001935" "00025670" "50" "-205" "33" "-205" "33" "c.-205+33dup" "r.(=)" "p.(=)" "" "0000002966" "00025670" "50" "-205" "33" "-205" "33" "c.-205+33dup" "r.(=)" "p.(=)" "" "0000006873" "00025670" "50" "-205" "214" "-205" "214" "c.-205+214T>C" "r.(=)" "p.(=)" "" "0000008942" "00025670" "50" "-205" "33" "-205" "33" "c.-205+33dup" "r.(=)" "p.(=)" "" "0000010964" "00025670" "50" "-205" "33" "-205" "33" "c.-205+33dup" "r.(=)" "p.(=)" "" "0000048661" "00025670" "90" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000048662" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Ter)" "" "0000048663" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Ter)" "" "0000048664" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Ter)" "" "0000048665" "00025670" "70" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Ter)" "" "0000048666" "00025670" "90" "818" "0" "818" "0" "c.818C>A" "r.(?)" "p.(Ser273Ter)" "" "0000048667" "00025670" "90" "2318" "0" "2318" "0" "c.2318del" "r.(?)" "p.(Phe773SerfsTer27)" "" "0000048668" "00025670" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Ter)" "" "0000048669" "00025670" "90" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Gly249Asp)" "" "0000048670" "00025670" "90" "845" "0" "845" "0" "c.845G>C" "r.(?)" "p.(Gly282Ala)" "" "0000048671" "00025670" "90" "1616" "0" "1616" "0" "c.1616T>C" "r.(?)" "p.(Leu539Pro)" "" "0000048672" "00025670" "90" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Ser273Leu)" "" "0000048673" "00025670" "90" "1846" "0" "1846" "0" "c.1846A>G" "r.(?)" "p.(Lys616Glu)" "" "0000048674" "00025670" "90" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Cys291Arg)" "" "0000048675" "00025670" "90" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Trp349*)" "" "0000048676" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Ter)" "" "0000048677" "00025670" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Ter)" "" "0000048678" "00025670" "90" "1849" "0" "1849" "0" "c.1849T>G" "r.(?)" "p.(Trp617Gly)" "" "0000048679" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707Ter)" "" "0000048680" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707Ter)" "" "0000048681" "00025670" "70" "1766" "0" "1766" "0" "c.1766T>A" "r.(?)" "p.(Val589Asp)" "" "0000048682" "00025670" "90" "1776" "0" "1778" "0" "c.1776_1778del" "r.(?)" "p.(Val593del)" "" "0000048683" "00025670" "90" "1776" "0" "1778" "0" "c.1776_1778del" "r.(?)" "p.(Val593del)" "" "0000048684" "00025670" "90" "" "0" "" "0" "c.(?_-181)_(*220_?)del" "r.0" "p.0" "_1_15_" "0000048685" "00025670" "90" "" "0" "" "0" "c.(?_-181)_(*220_?)del" "r.0" "p.0" "_1_15_" "0000048686" "00025670" "90" "" "0" "" "0" "c.(?_-181)_(*220_?)del" "r.0" "p.0" "_1_15_" "0000048687" "00025670" "50" "604" "-110" "604" "-110" "c.604-110del" "r.(=)" "p.(=)" "" "0000048688" "00025670" "50" "604" "-110" "604" "-110" "c.604-110del" "r.(=)" "p.(=)" "" "0000048689" "00025670" "90" "211" "0" "315" "1" "c.(?_211)_(315+1_316-1)del" "r.0?" "p.0?" "" "0000048690" "00025670" "90" "211" "0" "415" "1" "c.(?_211)_(415+1_416-1)del" "r.0?" "p.0?" "" "0000048691" "00025670" "90" "211" "0" "603" "1" "c.(?_211)_(603+1_604-1)del" "r.0?" "p.0?" "" "0000048692" "00025670" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Ter)" "" "0000048693" "00025670" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Ter)" "" "0000048694" "00025670" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Ter)" "" "0000048695" "00025670" "70" "315" "0" "315" "0" "c.315G>A" "r.spl?" "p.(?)" "" "0000048696" "00025670" "90" "376" "0" "376" "0" "c.376del" "r.(?)" "p.(Ser126ProfsTer5)" "" "0000048697" "00025670" "70" "416" "-1" "416" "-1" "c.416-1G>C" "r.spl" "p.?" "" "0000048698" "00025670" "70" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Trp173Ter)" "" "0000048699" "00025670" "70" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Trp173Ter)" "" "0000048700" "00025670" "70" "604" "-2" "604" "-2" "c.604-2A>G" "r.spl" "p.?" "" "0000048701" "00025670" "70" "604" "-2" "604" "-2" "c.604-2A>G" "r.spl" "p.?" "" "0000048702" "00025670" "90" "613" "0" "614" "0" "c.613_614del" "r.(?)" "p.(Ala205LeufsTer37)" "" "0000048703" "00025670" "90" "620" "0" "620" "0" "c.620dup" "r.(?)" "p.(Val208SerfsTer35)" "" "0000048704" "00025670" "70" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Trp216Ter)" "" "0000048705" "00025670" "70" "727" "-8" "727" "-8" "c.727-8A>G" "r.spl" "p.?" "" "0000048706" "00025670" "90" "807" "0" "808" "0" "c.807_808dup" "r.(?)" "p.(Leu270ArgfsTer8)" "" "0000048707" "00025670" "90" "891" "0" "892" "0" "c.891_892del" "r.(?)" "p.(His297GlnfsTer9)" "" "0000048708" "00025670" "70" "902" "0" "902" "0" "c.902A>T" "r.(?)" "p.(Lys301Ile)" "" "0000048709" "00025670" "90" "909" "0" "909" "0" "c.909del" "r.(?)" "p.(Lys304ArgfsTer20)" "" "0000048710" "00025670" "70" "926" "0" "926" "0" "c.926G>C" "r.(?)" "p.(Arg309Pro)" "" "0000048711" "00025670" "70" "931" "0" "931" "0" "c.931G>T" "r.(?)" "p.(Glu311Ter)" "" "0000048712" "00025670" "70" "934" "-2" "934" "-2" "c.934-2A>G" "r.spl" "p.?" "" "0000048713" "00025670" "70" "934" "-2" "934" "-2" "c.934-2A>G" "r.spl" "p.?" "" "0000048714" "00025670" "70" "934" "-1" "934" "-1" "c.934-1G>A" "r.spl" "p.?" "" "0000048715" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048716" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048717" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048718" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048719" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048720" "00025670" "70" "958" "0" "958" "0" "c.958G>C" "r.(?)" "p.(Gly320Arg)" "" "0000048721" "00025670" "90" "983" "0" "983" "0" "c.983delinsGGAA" "r.(?)" "p.(Pro328delinsArgAsn)" "" "0000048722" "00025670" "90" "990" "0" "990" "0" "c.990del" "r.(?)" "p.(Gly331GlufsTer98)" "" "0000048723" "00025670" "70" "1011" "0" "1011" "0" "c.1011A>C" "r.(?)" "p.(Glu337Asp)" "" "0000048724" "00025670" "70" "1020" "0" "1020" "0" "c.1020C>G" "r.(?)" "p.(Ser340Arg)" "" "0000048725" "00025670" "70" "1420" "0" "1420" "0" "c.1420G>T" "r.(?)" "p.(Glu474Ter)" "" "0000048726" "00025670" "70" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Gln500Ter)" "" "0000048727" "00025670" "90" "1558" "-2" "1558" "-2" "c.1558-2del" "r.spl" "p.?" "" "0000048728" "00025670" "70" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Gly540Arg)" "" "0000048729" "00025670" "70" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Gly540Arg)" "" "0000048730" "00025670" "70" "1745" "-1" "1745" "-1" "c.1745-1G>T" "r.spl" "p.?" "" "0000048731" "00025670" "90" "1746" "0" "1746" "0" "c.1746del" "r.(?)" "p.(Val584Ter)" "" "0000048732" "00025670" "70" "1762" "0" "1762" "0" "c.1762A>G" "r.(?)" "p.(Thr588Ala)" "" "0000048733" "00025670" "90" "1781" "0" "1781" "0" "c.1781dup" "r.(?)" "p.(Met595AsnfsTer3)" "" "0000048734" "00025670" "90" "1784" "0" "1784" "0" "c.1784del" "r.(?)" "p.(Met595SerfsTer4)" "" "0000048735" "00025670" "70" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Gly600Ser)" "" "0000048736" "00025670" "90" "1957" "0" "1957" "0" "c.1957del" "r.(?)" "p.(Met653TrpfsTer3)" "" "0000048737" "00025670" "90" "1961" "0" "1961" "0" "c.1961del" "r.(?)" "p.(Asp654ValfsTer2)" "" "0000048738" "00025670" "90" "2103" "0" "2103" "0" "c.2103dup" "r.(?)" "p.(Val702CysfsTer14)" "" "0000048739" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Ter)" "" "0000048740" "00025670" "90" "2172" "0" "2172" "0" "c.2172del" "r.(?)" "p.(Val725LeufsTer23)" "" "0000048741" "00025670" "90" "2289" "0" "2290" "0" "c.2289_2290insG" "r.(?)" "p.(Thr764AspfsTer48)" "" "0000048742" "00025670" "90" "2289" "0" "2290" "0" "c.2289_2290insG" "r.(?)" "p.(Thr764AspfsTer48)" "" "0000048743" "00025670" "90" "2289" "0" "2290" "0" "c.2289_2290insG" "r.(?)" "p.(Thr764AspfsTer48)" "" "0000048744" "00025670" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Ter)" "" "0000048745" "00025670" "70" "2360" "1" "2360" "1" "c.2360+1G>A" "r.spl" "p.?" "" "0000048746" "00025670" "90" "2394" "0" "2394" "0" "c.2394del" "r.(?)" "p.(Leu799Ter)" "" "0000048747" "00025670" "90" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Trp349*)" "" "0000048748" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718*)" "" "0000048749" "00025670" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774*)" "" "0000048750" "00025670" "90" "809" "0" "809" "0" "c.809T>G" "r.(?)" "p.(Leu270Arg)" "" "0000048751" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048752" "00025670" "90" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Gly576Glu)" "" "0000048753" "00025670" "90" "1768" "0" "1768" "0" "c.1768T>C" "r.(?)" "p.(Ser590Pro)" "" "0000048754" "00025670" "90" "726" "2" "726" "2" "c.726+2T>G" "r.604_726del" "p.Gly132_Glu172del" "" "0000048755" "00025670" "90" "726" "1" "726" "1" "c.726+1G>A" "r.604_726del" "p.Gly132_Glu172del" "" "0000048756" "00025670" "90" "604" "-1" "933" "1" "c.(603+1_604-1)_(933+1_934-1)del" "r.604_933del" "p.Gly132_Glu241del" "4i_6i" "0000048757" "00025670" "90" "" "0" "" "0" "c.-382_*7016{0}" "r.0" "p.0" "_1_15_" "0000048758" "00025670" "90" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Trp349*)" "" "0000048759" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718*)" "" "0000048760" "00025670" "90" "1049" "0" "1049" "0" "c.1049G>C" "r.(?)" "p.(Arg350Pro)" "" "0000048761" "00025670" "90" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Trp413*)" "" "0000048762" "00025670" "90" "2295" "0" "2295" "0" "c.2295del" "r.(?)" "p.(Met766Trpfs*4)" "" "0000048763" "00025670" "90" "297" "0" "298" "0" "c.297_298insAAC" "r.(?)" "p.(Asp99_Arg100insAsn)" "" "0000048764" "00025670" "90" "380" "0" "380" "0" "c.380G>T" "r.(?)" "p.(Gly127Val)" "" "0000048765" "00025670" "90" "1745" "0" "1745" "0" "c.1745G>C" "r.spl?" "p.(Gly582Ala)" "" "0000048766" "00025670" "90" "1791" "0" "1791" "0" "c.1791A>T" "r.(?)" "p.(Glu597Asp)" "" "0000048767" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048768" "00025670" "90" "380" "0" "380" "0" "c.380G>T" "r.(?)" "p.(Gly127Val)" "" "0000048769" "00025670" "90" "2158" "0" "2159" "0" "c.2158_2159ins[N{?];2144-1_2158]" "r.2144_2360del" "p.Glu645Glyfs*13" "14" "0000048770" "00025670" "90" "989" "0" "989" "0" "c.989G>T" "r.(?)" "p.(Gly330Val)" "" "0000048771" "00025670" "90" "383" "0" "383" "0" "c.383G>T" "r.(?)" "p.(Trp128Leu)" "" "0000048772" "00025670" "90" "784" "0" "784" "0" "c.784del" "r.(?)" "p.(Val262Leufs*15)" "" "0000048773" "00025670" "90" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Gly331Arg)" "" "0000048774" "00025670" "90" "992" "0" "994" "0" "c.992_994del" "r.(?)" "p.(Gly331del)" "" "0000048775" "00025670" "90" "1040" "0" "1042" "0" "c.1040_1042dup" "r.(?)" "p.(Thr347_Leu348insSer)" "" "0000048776" "00025670" "90" "1370" "0" "1371" "0" "c.1370_1371dup" "r.(?)" "p.(Leu458Serfs*47)" "" "0000048777" "00025670" "90" "1745" "0" "1745" "0" "c.1745G>A" "r.spl?" "p.(Gly582Asp)" "" "0000048778" "00025670" "90" "1775" "0" "1775" "0" "c.1775T>A" "r.(?)" "p.(Val592Asp)" "" "0000048779" "00025670" "90" "1849" "0" "1849" "0" "c.1849T>C" "r.(?)" "p.(Trp617Arg)" "" "0000048780" "00025670" "90" "1975" "0" "1975" "0" "c.1975dup" "r.(?)" "p.(Arg659Profs*4)" "" "0000048781" "00025670" "90" "2072" "0" "2072" "0" "c.2072C>T" "r.(?)" "p.(Pro691Leu)" "" "0000048782" "00025670" "90" "603" "4" "603" "4" "c.603+4A>G" "r.spl" "p.?" "" "0000048783" "00025670" "90" "1557" "1" "1557" "1" "c.1557+1G>T" "r.1268_1557del" "p.?" "" "0000048784" "00025670" "90" "2360" "1" "2360" "1" "c.2360+1G>T" "r.2144_2360del" "p.Glu645Glyfs*13" "" "0000048785" "00025670" "90" "164" "-2260" "164" "-2260" "c.164-2260G>A" "r.spl?" "p.(=)" "" "0000048786" "00025670" "30" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Ser456Phe)" "" "0000048787" "00025670" "90" "594" "0" "594" "0" "c.594C>G" "r.(?)" "p.(Ser198Arg)" "" "0000048788" "00025670" "90" "1835" "0" "1835" "0" "c.1835C>T" "r.(?)" "p.(Ala612Val)" "" "0000048789" "00025670" "90" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000048790" "00025670" "90" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000048791" "00025670" "90" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000048792" "00025670" "90" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000048793" "00025670" "90" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000048794" "00025670" "90" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000048795" "00025670" "90" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000048796" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417*)" "" "0000048797" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417*)" "" "0000048798" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Ter)" "" "0000048799" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417*)" "" "0000048800" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417*)" "" "0000048801" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417*)" "" "0000048802" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417*)" "" "0000048803" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417*)" "" "0000048804" "00025670" "90" "818" "0" "818" "0" "c.818C>A" "r.(?)" "p.(Ser273*)" "" "0000048805" "00025670" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "" "0000048806" "00025670" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Ter)" "" "0000048807" "00025670" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "" "0000048808" "00025670" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "" "0000048809" "00025670" "90" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Gly249Asp)" "" "0000048810" "00025670" "90" "845" "0" "845" "0" "c.845G>C" "r.(?)" "p.(Gly282Ala)" "" "0000048811" "00025670" "90" "845" "0" "845" "0" "c.845G>C" "r.(?)" "p.(Gly282Ala)" "" "0000048812" "00025670" "90" "845" "0" "845" "0" "c.845G>C" "r.(?)" "p.(Gly282Ala)" "" "0000048813" "00025670" "90" "1616" "0" "1616" "0" "c.1616T>C" "r.(?)" "p.(Leu539Pro)" "" "0000048814" "00025670" "90" "1616" "0" "1616" "0" "c.1616T>C" "r.(?)" "p.(Leu539Pro)" "" "0000048815" "00025670" "90" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Ser273Leu)" "" "0000048816" "00025670" "90" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Ser273Leu)" "" "0000048817" "00025670" "90" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Ser273Leu)" "" "0000048818" "00025670" "90" "1846" "0" "1846" "0" "c.1846A>G" "r.(?)" "p.(Lys616Glu)" "" "0000048819" "00025670" "90" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Cys291Arg)" "" "0000048820" "00025670" "90" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Cys291Arg)" "" "0000048821" "00025670" "90" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Cys291Arg)" "" "0000048822" "00025670" "90" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Cys291Arg)" "" "0000048823" "00025670" "90" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Cys291Arg)" "" "0000048824" "00025670" "90" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Cys291Arg)" "" "0000048825" "00025670" "90" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Cys291Arg)" "" "0000048826" "00025670" "90" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Cys291Arg)" "" "0000048827" "00025670" "90" "1849" "0" "1849" "0" "c.1849T>G" "r.(?)" "p.(Trp617Gly)" "" "0000048828" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "0000048829" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "0000048830" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "0000048831" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "0000048832" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "0000048833" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "0000048834" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "0000048835" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "0000048836" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "0000048837" "00025670" "70" "1766" "0" "1766" "0" "c.1766T>A" "r.(?)" "p.(Val589Asp)" "" "0000048838" "00025670" "90" "1776" "0" "1778" "0" "c.1776_1778del" "r.(?)" "p.(Val593del)" "" "0000048839" "00025670" "90" "1776" "0" "1778" "0" "c.1776_1778del" "r.(?)" "p.(Val593del)" "" "0000048840" "00025670" "90" "1776" "0" "1778" "0" "c.1776_1778del" "r.(?)" "p.(Val593del)" "" "0000048841" "00025670" "90" "1776" "0" "1778" "0" "c.1776_1778del" "r.(?)" "p.(Val593del)" "" "0000048842" "00025670" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000048843" "00025670" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000048844" "00025670" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000048845" "00025670" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000048846" "00025670" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000048847" "00025670" "70" "604" "-2" "604" "-2" "c.604-2A>G" "r.spl" "p.?" "" "0000048848" "00025670" "70" "604" "-2" "604" "-2" "c.604-2A>G" "r.spl" "p.?" "" "0000048849" "00025670" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774*)" "" "0000048850" "00025670" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774*)" "" "0000048851" "00025670" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774*)" "" "0000048852" "00025670" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774*)" "" "0000048853" "00025670" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774*)" "" "0000048854" "00025670" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774*)" "" "0000048855" "00025670" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774*)" "" "0000048856" "00025670" "90" "" "0" "" "0" "c.-382_*7016{0}" "r.0" "p.0" "_1_15_" "0000048857" "00025670" "90" "" "0" "" "0" "c.-382_*7016{0}" "r.0" "p.0" "_1_15_" "0000048858" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718*)" "" "0000048859" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718*)" "" "0000048860" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718*)" "" "0000048861" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718*)" "" "0000048862" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718*)" "" "0000048863" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718*)" "" "0000048864" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048865" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048866" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048867" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048868" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048869" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000048870" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000058547" "00025670" "10" "1203" "0" "1203" "0" "c.1203G>C" "r.(?)" "p.(Leu331=)" "" "0000058549" "00025670" "10" "1203" "0" "1203" "0" "c.1203G>C" "r.(?)" "p.(Leu331=)" "" "0000058550" "00025670" "10" "1203" "0" "1203" "0" "c.1203G>C" "r.(?)" "p.(Leu331=)" "" "0000058554" "00025670" "00" "2389" "0" "2389" "0" "c.2389del" "r.(?)" "p.(Asp797Metfs*3)" "" "0000058555" "00025670" "70" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "0000058556" "00025670" "70" "302" "0" "302" "0" "c.302del" "r.(?)" "p.(Asp101Valfs*17)" "" "0000058557" "00025670" "70" "1745" "-1" "1745" "-1" "c.1745-1G>A" "r.spl" "p.?" "" "0000058558" "00025670" "70" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774*)" "" "0000058559" "00025670" "70" "933" "1" "933" "1" "c.933+1G>A" "r.spl?" "p.?" "" "0000058560" "00025670" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000058561" "00025670" "70" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Leu591Phe)" "" "0000058562" "00025670" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "11" "0000058563" "00025670" "30" "1662" "0" "1662" "0" "c.1662C>T" "r.(?)" "p.(=)" "" "0000058564" "00025670" "30" "2049" "0" "2049" "0" "c.2049T>C" "r.(?)" "p.(=)" "" "0000058565" "00025670" "30" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(=)" "" "0000058566" "00025670" "30" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(=)" "" "0000058567" "00025670" "10" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(Pro568=)" "" "0000058568" "00025670" "10" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(Pro568=)" "" "0000058569" "00025670" "70" "316" "-17" "316" "-17" "c.316-17T>G" "r.c.316-135_316ins[316-134_316-18;G;316-16_316-1]" "p.?" "" "0000058581" "00025670" "50" "934" "-35" "934" "-35" "c.934-35T>G" "r.(?)" "p.(=)" "" "0000058584" "00025670" "50" "1558" "-14" "1558" "-14" "c.1558-14G>C" "r.(=)" "p.(=)" "" "0000058585" "00025670" "50" "1558" "-14" "1558" "-14" "c.1558-14G>C" "r.(?)" "p.(=)" "" "0000058586" "00025670" "50" "1558" "-14" "1558" "-14" "c.1558-14G>C" "r.(?)" "p.(=)" "" "0000058587" "00025670" "50" "1745" "-53" "1745" "-53" "c.1745-53G>A" "r.(?)" "p.(=)" "" "0000058588" "00025670" "50" "2144" "-60" "2144" "-60" "c.2144-60G>A" "r.(?)" "p.(=)" "" "0000058589" "00025670" "50" "2361" "-67" "2361" "-67" "c.2361-67C>T" "r.(?)" "p.(=)" "" "0000058590" "00025670" "50" "2361" "-67" "2361" "-67" "c.2361-67C>T" "r.(?)" "p.(=)" "" "0000058591" "00025670" "50" "416" "-6" "416" "-6" "c.416-6A>T" "r.(?)" "p.(=)" "" "0000058592" "00025670" "50" "2361" "-67" "2361" "-67" "c.2361-67C>T" "r.(?)" "p.(=)" "" "0000058593" "00025670" "50" "2473" "0" "2473" "0" "c.*22A>G" "r.(=)" "p.(=)" "" "0000058594" "00025670" "70" "2361" "-18" "2361" "-18" "c.2361-18A>G" "r.(?)" "p.(=)" "" "0000058595" "00025670" "50" "1558" "-14" "1558" "-14" "c.1558-14G>C" "r.(?)" "p.(=)" "" "0000058596" "00025670" "50" "1558" "-14" "1558" "-14" "c.1558-14G>C" "r.(?)" "p.(=)" "" "0000058597" "00025670" "70" "164" "-433" "164" "-433" "c.164-433G>A" "r.(?)" "p.(=)" "" "0000118935" "00025670" "90" "933" "2" "933" "2" "c.933+2T>C" "r.0" "p.0" "" "0000256067" "00025670" "50" "97" "0" "97" "0" "c.97A>G" "r.(?)" "p.(Ile33Val)" "" "0000270250" "00025670" "90" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Gly532Asp)" "" "0000270251" "00025670" "10" "2361" "-67" "2361" "-67" "c.2361-67C>T" "r.(=)" "p.(=)" "" "0000273593" "00025670" "30" "164" "-140" "164" "-140" "c.164-140T>C" "r.(=)" "p.(=)" "" "0000334128" "00025670" "50" "332" "0" "332" "0" "c.332A>G" "r.(?)" "p.(Lys111Arg)" "" "0000334129" "00025670" "50" "554" "0" "554" "0" "c.554A>G" "r.(?)" "p.(Lys185Arg)" "" "0000334130" "00025670" "50" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372Cys)" "" "0000334131" "00025670" "50" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415Gln)" "" "0000338331" "00025670" "10" "316" "-17" "316" "-17" "c.316-17T>G" "r.(=)" "p.(=)" "" "0000338332" "00025670" "90" "2144" "-2" "2144" "-2" "c.2144-2A>G" "r.spl?" "p.?" "" "0000341492" "00025670" "50" "1618" "0" "1618" "0" "c.1618G>C" "r.(?)" "p.(Gly540Arg)" "" "0000342696" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Ter)" "" "0000342951" "00025670" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Ter)" "" "0000343198" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707Ter)" "" "0000346172" "00025670" "90" "379" "0" "379" "0" "c.379G>C" "r.(?)" "p.(Gly127Arg)" "" "0000348012" "00025670" "50" "1054" "0" "1054" "0" "c.1054T>C" "r.(?)" "p.(Phe352Leu)" "" "0000348930" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000349551" "00025670" "50" "1796" "0" "1796" "0" "c.1796C>G" "r.(?)" "p.(Thr599Ser)" "" "0000350019" "00025670" "50" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Tyr342Cys)" "" "0000576439" "00025670" "50" "252" "0" "252" "0" "c.252T>G" "r.(?)" "p.(Tyr84Ter)" "" "0000576440" "00025670" "50" "617" "0" "617" "0" "c.617A>G" "r.(?)" "p.(Tyr206Cys)" "" "0000576441" "00025670" "70" "726" "5" "726" "5" "c.726+5G>C" "r.spl?" "p.?" "" "0000576442" "00025670" "30" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415Gln)" "" "0000576443" "00025670" "30" "1427" "0" "1427" "0" "c.1427G>A" "r.(?)" "p.(Arg476His)" "" "0000576444" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Ter)" "" "0000576445" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Ter)" "" "0000576446" "00025670" "30" "2431" "0" "2431" "0" "c.2431G>A" "r.(?)" "p.(Asp811Asn)" "" "0000652931" "00025670" "10" "5311" "0" "5311" "0" "c.*2860T>C" "r.(=)" "p.(=)" "" "0000659366" "00025670" "30" "554" "0" "554" "0" "c.554A>G" "r.(?)" "p.(Lys185Arg)" "" "0000659367" "00025670" "70" "983" "0" "983" "0" "c.983C>G" "r.(?)" "p.(Pro328Arg)" "" "0000659368" "00025670" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "" "0000659369" "00025670" "50" "1316" "0" "1316" "0" "c.1316T>C" "r.(?)" "p.(Ile439Thr)" "" "0000670129" "00025670" "10" "5311" "0" "5311" "0" "c.*2860T>C" "r.(=)" "p.(=)" "" "0000682492" "00025670" "30" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Val214Ile)" "" "0000682493" "00025670" "30" "1872" "0" "1872" "0" "c.1872G>A" "r.(?)" "p.(Arg624=)" "" "0000683627" "00025670" "50" "2102" "0" "2102" "0" "c.2102T>C" "r.(?)" "p.(Leu701Pro)" "" "0000693646" "00025670" "30" "2361" "-18" "2361" "-18" "c.2361-18A>G" "r.(=)" "p.(=)" "" "0000714448" "00025670" "99" "992" "0" "992" "0" "c.992G>A" "r.992G>A" "p.(Gly331Glu)" "" "0000714450" "00025670" "77" "1006" "0" "1006" "0" "c.1006C>G" "r.1006c>g" "p.(Leu336Val)" "" "0000714451" "00025670" "00" "1009" "0" "1009" "0" "c.1009G>A" "r.1009g>a" "p.(Glu337Lys)" "" "0000714452" "00025670" "70" "1018" "0" "1018" "0" "c.1018A>G" "r.(1018A>G)" "p.(Ser340Gly)" "" "0000714453" "00025670" "77" "1024" "0" "1024" "0" "c.1024T>A" "r.1024u>a" "p.(Tyr342Asn)" "" "0000728999" "00025670" "30" "603" "6" "603" "7" "c.603+6_603+7del" "r.(=)" "p.(=)" "" "0000729000" "00025670" "90" "604" "-1" "604" "-1" "c.604-1G>C" "r.spl?" "p.?" "" "0000729001" "00025670" "30" "2007" "0" "2007" "0" "c.2007T>C" "r.(?)" "p.(Thr669=)" "" "0000729002" "00025670" "90" "2143" "1" "2143" "1" "c.2143+1G>T" "r.spl?" "p.?" "" "0000810483" "00025670" "90" "318" "0" "318" "0" "c.318del" "r.(?)" "p.(Thr107Profs*11)" "" "0000810485" "00025670" "50" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309His)" "" "0000810486" "00025670" "30" "942" "0" "942" "0" "c.942G>A" "r.(?)" "p.(Ser314=)" "" "0000830447" "00025670" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "" "0000830448" "00025670" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402*)" "" "0000856678" "00025670" "50" "147" "0" "147" "0" "c.147A>C" "r.(?)" "p.(Leu49Phe)" "" "0000856679" "00025670" "30" "167" "0" "167" "0" "c.167A>G" "r.(?)" "p.(Asp56Gly)" "" "0000856680" "00025670" "90" "1516" "0" "1516" "0" "c.1516dup" "r.(?)" "p.(Ile506Asnfs*23)" "" "0000856681" "00025670" "30" "2180" "0" "2180" "0" "c.2180C>G" "r.(?)" "p.(Thr727Ser)" "" "0000867439" "00025670" "30" "164" "-6" "164" "-6" "c.164-6A>T" "r.(=)" "p.(=)" "" "0000867440" "00025670" "30" "1473" "0" "1473" "0" "c.1473C>T" "r.(?)" "p.(Gly491=)" "" "0000867441" "00025670" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Ter)" "" "0000873492" "00025670" "70" "993" "0" "1000" "0" "c.993_1000dup" "r.(?)" "p.(Phe334*)" "" "0000896282" "00025670" "30" "416" "-6" "416" "-6" "c.416-6A>T" "r.(=)" "p.(=)" "" "0000896283" "00025670" "10" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Met212Ile)" "" "0000896284" "00025670" "70" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Ser340Asn)" "" "0000896285" "00025670" "30" "1257" "0" "1257" "0" "c.1257C>T" "r.(?)" "p.(Thr419=)" "" "0000896286" "00025670" "70" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Gly583Arg)" "" "0000915733" "00025670" "10" "416" "-6" "416" "-6" "c.416-6A>T" "r.(=)" "p.(=)" "" "0000915734" "00025670" "30" "604" "-8" "604" "-8" "c.604-8T>C" "r.(=)" "p.(=)" "" "0000915735" "00025670" "50" "902" "0" "902" "0" "c.902A>C" "r.(?)" "p.(Lys301Thr)" "" "0000915736" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0000915737" "00025670" "50" "1277" "0" "1277" "0" "c.1277C>T" "r.(?)" "p.(Pro426Leu)" "" "0000915738" "00025670" "50" "2248" "0" "2248" "0" "c.2248C>T" "r.(?)" "p.(Arg750Trp)" "" "0000927395" "00025670" "30" "819" "0" "819" "0" "c.819=" "r.(=)" "p.(Ser273=)" "" "0000931432" "00025670" "90" "221" "0" "221" "0" "c.221del" "r.(?)" "p.(Leu74Trpfs*8)" "" "0000931433" "00025670" "30" "554" "0" "554" "0" "c.554A>G" "r.(?)" "p.(Lys185Arg)" "" "0000931434" "00025670" "70" "1616" "0" "1616" "0" "c.1616T>C" "r.(?)" "p.(Leu539Pro)" "" "0001006834" "00025670" "30" "168" "0" "168" "0" "c.168C>A" "r.(?)" "p.(Asp56Glu)" "" "0001016041" "00025670" "50" "262" "0" "262" "0" "c.262A>C" "r.(?)" "p.(Asn88His)" "" "0001044384" "00025670" "70" "1789" "0" "1789" "0" "c.1789G>C" "r.(?)" "p.(Glu597Gln)" "" "0001046869" "00025670" "70" "1796" "0" "1796" "0" "c.1796C>T" "r.(?)" "p.(Thr599Ile)" "" "0001074717" "00025670" "90" "603" "0" "603" "0" "c.603G>A" "r.spl" "p.?" "7" "0001074718" "00025670" "90" "1616" "0" "1616" "0" "c.1616T>G" "r.(?)" "p.(Leu539Arg)" "12" "0001074719" "00025670" "70" "1975" "0" "1975" "0" "c.1975del" "r.(?)" "p.(Arg659GlyfsTer7)" "13" "0001074720" "00025670" "90" "2228" "0" "2360" "202" "c.2228_2360+202del" "r.spl" "p.?" "14_14i" "0001074721" "00025670" "90" "315" "0" "315" "0" "c.315G>A" "r.[315G>A,315_316ins315+1_315+23]" "p.Ile106ValfsTer20" "2i" "0001074722" "00025670" "90" "315" "5" "315" "5" "c.315+5G>C" "r.315_316ins[GTAAAC;315+6_315+23]" "p.Ile106ValfsTer20" "2i" "0001074723" "00025670" "30" "316" "-17" "316" "-17" "c.316-17T>G" "r.315_316=" "p.=" "2i" "0001074724" "00025670" "90" "603" "4" "603" "4" "c.603+4A>G" "r.416_613del" "p.Gly139_Phe204del" "4i" "0001074725" "00025670" "90" "727" "-8" "727" "-8" "c.727-8A>G" "r.[726_727insCCTGCAG,727_758del,727_814del,727_933del]" "p.[Ile243ProfsTer13,Ile243GlyfsTer5,Ile243CysfsTer5,Ile243_Glu311del]" "5i" "0001074726" "00025670" "90" "727" "-3" "727" "-3" "c.727-3C>A" "r.[727_758del,727_814del,727_933del]" "p.[Ile243GlyfsTer5,Ile243CysfsTer5,Ile243_Glu311del]" "5i" "0001074738" "00025670" "90" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Gly582Asp)" "" "0001074739" "00025670" "90" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Gly331Arg)" "" "0001074740" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707Ter)" "" "0001074741" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707Ter)" "" "0001074742" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707Ter)" "" "0001074743" "00025670" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774Ter)" "" "0001074744" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707Ter)" "" "0001074747" "00025670" "90" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Ter)" "" "0001074748" "00025670" "90" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Trp115Ter)" "" "0001074749" "00025670" "30" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Gly158Asp)" "" "0001074750" "00025670" "90" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Trp165Ter)" "" "0001074751" "00025670" "90" "871" "0" "871" "0" "c.871T>C" "r.(?)" "p.(Cys291Arg)" "" "0001074752" "00025670" "90" "1181" "0" "1181" "0" "c.1181T>G" "r.(?)" "p.(Leu394Arg)" "" "0001074753" "00025670" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Trp402Ter)" "" "0001074754" "00025670" "30" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Ter)" "" "0001074755" "00025670" "50" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Ter)" "" "0001074756" "00025670" "30" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Ter)" "" "0001074757" "00025670" "50" "1595" "0" "1595" "0" "c.1595G>T" "r.(?)" "p.(Gly532Val)" "" "0001074758" "00025670" "30" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Ter)" "" "0001074759" "00025670" "50" "1760" "0" "1760" "0" "c.1760dup" "r.(?)" "p.(Met587IlefsTer11)" "" "0001074760" "00025670" "50" "1771" "0" "1772" "0" "c.1771_1772del" "r.(?)" "p.(Leu591CysfsTer6)" "" "0001074761" "00025670" "50" "1771" "0" "1772" "0" "c.1771_1772del" "r.(?)" "p.(Leu591CysfsTer6)" "" "0001074762" "00025670" "50" "2383" "0" "2383" "0" "c.2383A>G" "r.(?)" "p.(Lys795Glu)" "" "0001074764" "00025670" "50" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Val618Met)" "" "0001074765" "00025670" "90" "1557" "1" "1557" "1" "c.1557+1G>T" "r.spl" "p.?" "" "0001074807" "00025670" "50" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Arg476Cys)" "" "0001074808" "00025670" "50" "2198" "0" "2198" "0" "c.2198C>T" "r.(?)" "p.(Thr733Met)" "" "0001075543" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0001075544" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0001075545" "00025670" "90" "1010" "0" "1010" "0" "c.1010A>C" "r.(?)" "p.(Glu337Ala)" "" "0001075546" "00025670" "90" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Gly532Asp)" "" "0001075547" "00025670" "90" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Gly583Arg)" "" "0001075548" "00025670" "90" "1844" "0" "1844" "0" "c.1844G>A" "r.(?)" "p.(Ser615Asn)" "" "0001075549" "00025670" "90" "2180" "0" "2180" "0" "c.2180C>G" "r.(?)" "p.(Thr727Ser)" "" "0001075550" "00025670" "90" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Trp115Ter)" "" "0001075551" "00025670" "90" "873" "0" "873" "0" "c.873T>A" "r.(?)" "p.(Cys291Ter)" "" "0001075552" "00025670" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Ter)" "" "0001075553" "00025670" "90" "2271" "0" "2271" "0" "c.2271del" "r.(?)" "p.(Phe758SerfsTer3)" "" "0001075554" "00025670" "90" "2289" "0" "2289" "0" "c.2289dup" "r.(?)" "p.(Thr764TyrfsTer48)" "" "0001075555" "00025670" "90" "2095" "0" "2095" "0" "c.2095C>T" "r.(?)" "p.(Gln699Ter)" "" "0001075556" "00025670" "90" "2095" "0" "2095" "0" "c.2095C>T" "r.(?)" "p.(Gln699Ter)" "" "0001075557" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0001075558" "00025670" "90" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ser314Leu)" "" "0001075559" "00025670" "90" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Arg415Trp)" "" "0001075560" "00025670" "10" "2180" "0" "2180" "0" "c.2180C>G" "r.(?)" "p.(Thr727Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 310 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001935" "0000000209" "0000002966" "0000000209" "0000006873" "0000000209" "0000048687" "0000000210" "0000008942" "0000000210" "0000010964" "0000000210" "0000048688" "0000025652" "0000048684" "0000025653" "0000048692" "0000025654" "0000048693" "0000025655" "0000048662" "0000025656" "0000048666" "0000025657" "0000048663" "0000025658" "0000048679" "0000025659" "0000048667" "0000025660" "0000048715" "0000025661" "0000048716" "0000025662" "0000048664" "0000025663" "0000048676" "0000025664" "0000048682" "0000025665" "0000048700" "0000025666" "0000048701" "0000025667" "0000048680" "0000025667" "0000058591" "0000025667" "0000058592" "0000025668" "0000048671" "0000025669" "0000048670" "0000025670" "0000048668" "0000025671" "0000048669" "0000025672" "0000048694" "0000025673" "0000048717" "0000025674" "0000048718" "0000025675" "0000048685" "0000025676" "0000048681" "0000025677" "0000048672" "0000025678" "0000048719" "0000025679" "0000048673" "0000025680" "0000048674" "0000025681" "0000048744" "0000025682" "0000048739" "0000025683" "0000048683" "0000025684" "0000048665" "0000025685" "0000048678" "0000025686" "0000048677" "0000025687" "0000048661" "0000025688" "0000048686" "0000025689" "0000048734" "0000025690" "0000048689" "0000025691" "0000048737" "0000025692" "0000048705" "0000025693" "0000048712" "0000025694" "0000048690" "0000025695" "0000048722" "0000025696" "0000048703" "0000025697" "0000048691" "0000025698" "0000048702" "0000025699" "0000048724" "0000025700" "0000048740" "0000025701" "0000048745" "0000025702" "0000048741" "0000025703" "0000048746" "0000025704" "0000048742" "0000025705" "0000048698" "0000025706" "0000048707" "0000025707" "0000048711" "0000025708" "0000048726" "0000025709" "0000048695" "0000025710" "0000048731" "0000025711" "0000048704" "0000025712" "0000048725" "0000025713" "0000048710" "0000025714" "0000048735" "0000025715" "0000048706" "0000025716" "0000048727" "0000025717" "0000048730" "0000025718" "0000048732" "0000025719" "0000048728" "0000025720" "0000048714" "0000025721" "0000048721" "0000025722" "0000048733" "0000025723" "0000048736" "0000025724" "0000048713" "0000025725" "0000048708" "0000025726" "0000048720" "0000025727" "0000048729" "0000025728" "0000048723" "0000025729" "0000048696" "0000025730" "0000048738" "0000025731" "0000048699" "0000025732" "0000048709" "0000025733" "0000048697" "0000025734" "0000048743" "0000025735" "0000048675" "0000025736" "0000048747" "0000025737" "0000048748" "0000025738" "0000048749" "0000025739" "0000048750" "0000025740" "0000048751" "0000025741" "0000048752" "0000025742" "0000048753" "0000025743" "0000048754" "0000025744" "0000048755" "0000025745" "0000048756" "0000025746" "0000048757" "0000025747" "0000048758" "0000025748" "0000048760" "0000025749" "0000048761" "0000025750" "0000048762" "0000025751" "0000048763" "0000025752" "0000048764" "0000025753" "0000048765" "0000025754" "0000048766" "0000025755" "0000048759" "0000025756" "0000048767" "0000025757" "0000048768" "0000025758" "0000048769" "0000025759" "0000048770" "0000025760" "0000048771" "0000025761" "0000048772" "0000025762" "0000048773" "0000025763" "0000048774" "0000025764" "0000048775" "0000025765" "0000048776" "0000025765" "0000048786" "0000025766" "0000048777" "0000025767" "0000048778" "0000025768" "0000048779" "0000025769" "0000048780" "0000025770" "0000048781" "0000025771" "0000048782" "0000025772" "0000048783" "0000025773" "0000048784" "0000025774" "0000048785" "0000025775" "0000048787" "0000025776" "0000048788" "0000025777" "0000048789" "0000025778" "0000048790" "0000025779" "0000048791" "0000025780" "0000048792" "0000025781" "0000048793" "0000025782" "0000048794" "0000025783" "0000048795" "0000025784" "0000048796" "0000025785" "0000048797" "0000025786" "0000048798" "0000025787" "0000048799" "0000025788" "0000048800" "0000025789" "0000048801" "0000025790" 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