### 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" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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 = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "-" "rickets, hypophosphatemic, X-linked recessive" "XLR" "300554" "" "" "" "00006" "2013-10-20 13:24:02" "00006" "2021-12-10 21:51:32" "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" "XLHR" "rickets, hypophosphatemic, X-linked dominant (XLHR)" "XLD" "307800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04154" "NPHL" "nephrolithiasis" "" "" "" "" "" "00006" "2014-12-03 13:17:46" "00006" "2022-10-23 21:40:24" "06886" "HR" "hypophosphataemic rickets" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2021-12-18 20:31:29" ## 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 = 245 "{{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" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025649" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025650" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025651" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025652" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025653" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025654" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025655" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025656" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025657" "" "" "" "1" "" "01156" "" "" "M" "yes" "France" "" "0" "" "" "white" "" "00025658" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025659" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025660" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025661" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025662" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025663" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025664" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025665" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025666" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025667" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025668" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025669" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025670" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025671" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025672" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025673" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025674" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025675" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025676" "" "" "" "1" "" "01156" "" "" "M" "?" "" "" "0" "" "" "" "" "00025677" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025678" "" "" "" "1" "" "01156" "" "" "M" "?" "" "" "0" "" "" "" "" "00025679" "" "" "" "1" "" "01156" "" "" "M" "?" "" "" "0" "" "" "" "" "00025680" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025681" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025682" "" "" "" "1" "" "01156" "" "" "M" "no" "" "" "0" "" "" "" "" "00025683" "" "" "" "1" "" "01156" "" "" "M" "?" "" "" "0" "" "" "" "" "00025684" "" "" "" "1" "" "01156" "" "" "M" "no" "Switzerland" "" "0" "" "" "white" "" "00025685" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025686" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025687" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025688" "" "" "" "1" "" "01156" "" "" "M" "no" "" "" "0" "" "" "" "" "00025689" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025690" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025691" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025692" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025693" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025694" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025695" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025696" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025697" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025698" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025699" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025700" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025701" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025702" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025703" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025704" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025705" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025706" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025707" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025708" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025709" "" "" "" "1" "" "01156" "" "" "M" "?" "" "" "0" "" "" "" "" "00025710" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025711" "" "" "" "1" "" "01156" "" "" "M" "?" "" "" "0" "" "" "" "" "00025712" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025713" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025714" "" "" "" "1" "" "01156" "" "" "M" "?" "" "" "0" "" "" "" "" "00025715" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025716" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025717" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025718" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025719" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025720" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025721" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025722" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025723" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025724" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025725" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025726" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025727" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "00025728" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025729" "" "" "" "1" "" "01156" "" "" "M" "?" "France" "" "0" "" "" "white" "" "00025730" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "white" "" "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}" "" "" "" "" "" "0" "" "" "" "" "00025775" "" "" "" "1" "" "01156" "{PMID:Ludwig 2005:15895257}" "" "" "" "" "" "0" "" "" "" "" "00025776" "" "" "" "1" "" "01156" "{PMID:Ludwig 2006:16807762}" "" "" "" "" "" "0" "" "" "" "" "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}" "" "" "" "" "" "0" "" "" "" "" "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}" "" "" "" "" "" "0" "" "" "" "" "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}" "" "" "" "" "" "0" "" "" "" "" "00025803" "" "" "" "1" "" "01156" "{PMID:Hoopes 2004:15086899}" "" "" "" "" "" "0" "" "" "" "" "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" "" "" "" "1" "" "01156" "{PMID:Ludwig 2006:16807762}" "" "" "" "" "" "0" "" "" "" "" "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}" "" "" "" "" "" "0" "" "" "" "" "00025851" "" "" "" "1" "" "01156" "{PMID:Kelleher 1998:9452997}" "" "" "" "" "" "0" "" "" "" "" "00025852" "" "" "" "1" "" "01156" "{PMID:Ludwig 2006:16807762}" "" "" "" "" "" "0" "" "" "" "" "00025853" "" "" "" "1" "" "01156" "{PMID:Oudet 1997:9187673}" "" "" "" "" "" "0" "" "" "" "" "00025854" "" "" "" "1" "" "01156" "{PMID:Tosetto 2006:16822791}" "" "" "" "" "" "0" "" "" "" "" "00032352" "" "" "" "1" "" "01156" "" "" "" "" "France" "" "0" "" "" "" "" "00032353" "" "" "" "1" "" "01156" "" "" "M" "" "Senegal" "" "0" "" "" "" "" "00032354" "" "" "" "1" "" "01156" "" "" "M" "" "Algeria" "" "0" "" "" "" "" "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" "" "" "" "0" "" "" "" "" "00032366" "" "" "" "1" "" "01156" "{PMID:Tosetto 2006:16822791}" "" "M" "" "Cape Verde" "" "0" "" "" "" "" "00032367" "" "" "" "1" "" "01156" "" "" "M" "" "Comoros" "" "0" "" "" "" "" "00032368" "" "" "" "1" "" "01156" "" "" "M" "" "France" "" "0" "" "" "" "" "00032369" "" "" "" "1" "" "01156" "{PMID:Forino 2004:14673707}" "" "M" "" "" "" "0" "" "" "" "" "00032374" "" "" "" "1" "" "01156" "" "" "M" "" "Guadeloupe" "" "0" "" "" "" "" "00032375" "" "" "" "1" "" "01156" "" "" "M" "" "Viet Nam" "" "0" "" "" "" "" "00032376" "" "" "" "1" "" "01156" "" "" "M" "" "France" "" "0" "" "" "" "" "00032377" "" "" "" "1" "" "01156" "" "" "M" "" "France" "" "0" "" "" "" "" "00032378" "" "" "" "1" "" "01156" "" "" "M" "" "France" "" "0" "" "" "" "" "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" "" "" "" "" "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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 245 "{{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" "00249" "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" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 00249, 00250, 00251, 00252, 01157, 02241, 04154, 06886 ## Count = 237 "{{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" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021891" "00249" "00025775" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021892" "00249" "00025776" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021919" "00249" "00025803" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "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" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021967" "00249" "00025851" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "0000021968" "00249" "00025852" "01156" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025833" "00249" "00032365" "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" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 245 "{{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 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"" "" "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" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 240 "{{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" ## 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 = 328 "{{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 et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090127C>T" "" "pathogenic" "" "0000048662" "21" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048663" "0" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048664" "0" "90" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086562C>T" "" "pathogenic" "" "0000048665" "0" "50" "X" "49851219" "49851219" "subst" "0" "01156" "CLCN5_000037" "g.49851219C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086562C>T" "" "VUS" "" "0000048666" "21" "90" "X" "49846389" "49846389" "subst" "0" "01156" "CLCN5_000021" "g.49846389C>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50081732C>A" "" "pathogenic" "" "0000048667" "21" "90" "X" "49855501" "49855501" "del" "0" "01156" "CLCN5_000062" "g.49855501del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090844del" "" "pathogenic" "" "0000048668" "0" "90" "X" "49856787" "49856787" "subst" "0" "01156" "CLCN5_000064" "g.49856787C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50092130C>T" "" "pathogenic" "" "0000048669" "21" "90" "X" "49846317" "49846317" "subst" "0" "01156" "CLCN5_000019" "g.49846317G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50081660G>A" "" "pathogenic" "" "0000048670" "21" "90" "X" "49846416" "49846416" "subst" "0" "01156" "CLCN5_000023" "g.49846416G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50081759G>C" "" "pathogenic" "" "0000048671" "21" "90" "X" "49853413" "49853413" "subst" "0" "01156" "CLCN5_000042" "g.49853413T>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "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 et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081732C>T" "" "pathogenic" "" "0000048673" "0" "90" "X" "49854874" "49854874" "subst" "0" "01156" "CLCN5_000054" "g.49854874A>G" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090217A>G" "" "pathogenic" "" "0000048674" "21" "90" "X" "49846442" "49846442" "subst" "0" "01156" "CLCN5_000024" "g.49846442T>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "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 et al. 2015:25907713}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048677" "0" "90" "X" "49853406" "49853406" "subst" "0" "01156" "CLCN5_000041" "g.49853406C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50088749C>T" "" "pathogenic" "" "0000048678" "21" "90" "X" "49854877" "49854877" "subst" "0" "01156" "CLCN5_000055" "g.49854877T>G" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090220T>G" "" "pathogenic" "" "0000048679" "21" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048680" "0" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090490C>T" "" "pathogenic" "" "0000048681" "0" "70" "X" "49854794" "49854794" "subst" "0" "01156" "CLCN5_000049" "g.49854794T>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090137T>A" "" "likely pathogenic" "" "0000048682" "20" "90" "X" "49854804" "49854806" "del" "0" "01156" "CLCN5_000050" "g.49854804_49854806del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090147_50090149del" "" "pathogenic" "" "0000048683" "0" "90" "X" "49854804" "49854806" "del" "0" "01156" "CLCN5_000050" "g.49854804_49854806del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090147_50090149del" "" "pathogenic" "" "0000048684" "21" "90" "X" "49834580" "49856877" "del" "0" "01156" "CLCN5_000000" "g.(?_49834580)_(49856877_?)del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "g.50069896_50075809del" "whole gene deletion, breakpoints not characterized" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000048685" "0" "90" "X" "49834580" "49856877" "del" "0" "01156" "CLCN5_000000" "g.(?_49834580)_(49856877_?)del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "g.50069896_50075809del" "whole gene deletion, breakpoints not characterized" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048686" "0" "90" "X" "49834580" "49856877" "del" "0" "01156" "CLCN5_000000" "g.(?_49834580)_(49856877_?)del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "g.50069896_50075809del" "whole gene deletion, breakpoints not characterized" "Unknown" "" "" "0" "" "" "" "" "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" "49834580" "49834686" "del" "0" "01156" "CLCN5_000008" "g.(?_49834580)_(49834686_49837143)del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048690" "0" "90" "X" "49834580" "49837244" "del" "0" "01156" "CLCN5_000117" "g.(?_49834580)_(49837244_49840449)del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048691" "0" "90" "X" "49834580" "49840638" "del" "0" "01156" "CLCN5_000009" "g.(?_49834580)_(49840638_49845250)del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000048692" "0" "70" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50070007C>T" "" "likely pathogenic" "" "0000048693" "21" "70" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50070007C>T" "" "likely pathogenic" "" "0000048694" "0" "90" "X" "49834662" "49834662" "subst" "0" "01156" "CLCN5_000006" "g.49834662C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50070007C>T" "" "pathogenic" "" "0000048695" "20" "70" "X" "49834685" "49834685" "subst" "0" "01156" "CLCN5_000010" "g.49834685G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "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 et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50072549del" "" "pathogenic" "" "0000048697" "0" "70" "X" "49840449" "49840449" "subst" "0" "01156" "CLCN5_000012" "g.49840449G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "Loss of splice acceptor site" "Unknown" "" "" "0" "" "" "g.50075794G>C" "" "likely pathogenic" "" "0000048698" "0" "70" "X" "49840552" "49840552" "subst" "0" "01156" "CLCN5_000013" "g.49840552G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50075897G>A" "" "likely pathogenic" "" "0000048699" "0" "70" "X" "49840553" "49840553" "subst" "0" "01156" "CLCN5_000014" "g.49840553G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50075898G>A" "" "likely pathogenic" "" "0000048700" "0" "70" "X" "49845249" "49845249" "subst" "0" "01156" "CLCN5_000007" "g.49845249A>G" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "Loss of splice acceptor site" "Unknown" "" "" "0" "" "" "g.50080592A>G" "" "likely pathogenic" "" "0000048701" "20" "70" "X" "49845249" "49845249" "subst" "0" "01156" "CLCN5_000007" "g.49845249A>G" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "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 et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50080603_50080604del" "" "pathogenic" "" "0000048703" "0" "90" "X" "49845267" "49845267" "dup" "0" "01156" "CLCN5_000016" "g.49845267dup" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50080610dup" "" "pathogenic" "" "0000048704" "0" "70" "X" "49845295" "49845295" "subst" "0" "01156" "CLCN5_000017" "g.49845295G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50080638G>A" "" "likely pathogenic" "" "0000048705" "20" "70" "X" "49846290" "49846290" "subst" "0" "01156" "CLCN5_000018" "g.49846290A>G" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50081633A>G" "" "likely pathogenic" "" "0000048706" "0" "90" "X" "49846378" "49846379" "dup" "0" "01156" "CLCN5_000020" "g.49846378_49846379dup" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081721_50081722dup" "" "pathogenic" "" "0000048707" "0" "90" "X" "49846462" "49846463" "del" "0" "01156" "CLCN5_000025" "g.49846462_49846463del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081805_50081806del" "" "pathogenic" "" "0000048708" "21" "70" "X" "49846473" "49846473" "subst" "0" "01156" "CLCN5_000026" "g.49846473A>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50081816A>T" "" "likely pathogenic" "" "0000048709" "21" "90" "X" "49846480" "49846480" "del" "0" "01156" "CLCN5_000027" "g.49846480del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50081823del" "" "pathogenic" "" "0000048710" "0" "70" "X" "49846497" "49846497" "subst" "0" "01156" "CLCN5_000028" "g.49846497G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50081840G>C" "" "likely pathogenic" "" "0000048711" "21" "70" "X" "49846502" "49846502" "subst" "0" "01156" "CLCN5_000029" "g.49846502G>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50081845G>T" "" "likely pathogenic" "" "0000048712" "21" "70" "X" "49850635" "49850635" "subst" "0" "01156" "CLCN5_000030" "g.49850635A>G" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "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 et al. 2015:25907713}" "" "" "Loss of splice acceptor site" "Unknown" "" "" "0" "" "" "g.50085978A>G" "" "likely pathogenic" "" "0000048714" "21" "70" "X" "49850636" "49850636" "subst" "0" "01156" "CLCN5_000031" "g.49850636G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "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 et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048716" "0" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "De novo" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048717" "21" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048718" "0" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048719" "0" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50085987C>T" "" "pathogenic" "" "0000048720" "0" "70" "X" "49850661" "49850661" "subst" "0" "01156" "CLCN5_000032" "g.49850661G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086004G>C" "" "likely pathogenic" "" "0000048721" "21" "90" "X" "49850686" "49850686" "delins" "0" "01156" "CLCN5_000033" "g.49850686delinsGGAA" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50086029delinsGGAA" "" "pathogenic" "" "0000048722" "0" "90" "X" "49850693" "49850693" "del" "0" "01156" "CLCN5_000034" "g.49850693del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086036del" "" "pathogenic" "" "0000048723" "21" "70" "X" "49850714" "49850714" "subst" "0" "01156" "CLCN5_000035" "g.49850714A>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50086057A>C" "" "likely pathogenic" "" "0000048724" "21" "70" "X" "49850990" "49850990" "subst" "0" "01156" "CLCN5_000036" "g.49850990C>G" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50086333C>G" "" "likely pathogenic" "" "0000048725" "0" "70" "X" "49851390" "49851390" "subst" "0" "01156" "CLCN5_000038" "g.49851390G>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50086733G>T" "" "likely pathogenic" "" "0000048726" "21" "70" "X" "49851468" "49851468" "subst" "0" "01156" "CLCN5_000039" "g.49851468C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50086811C>T" "" "likely pathogenic" "" "0000048727" "0" "90" "X" "49853353" "49853353" "del" "0" "01156" "CLCN5_000040" "g.49853353del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "Loss of splice acceptor site" "Unknown" "" "" "0" "" "" "g.50088696del" "" "pathogenic" "" "0000048728" "21" "70" "X" "49853415" "49853415" "subst" "0" "01156" "CLCN5_000043" "g.49853415G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50088758G>A" "" "likely pathogenic" "" "0000048729" "21" "70" "X" "49853415" "49853415" "subst" "0" "01156" "CLCN5_000044" "g.49853415G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50088758G>A" "" "likely pathogenic" "" "0000048730" "21" "70" "X" "49854772" "49854772" "subst" "0" "01156" "CLCN5_000045" "g.49854772G>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "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 et al. 2015:25907713}" "" "" "" "De novo" "" "" "0" "" "" "g.50090117del" "" "pathogenic" "" "0000048732" "21" "70" "X" "49854790" "49854790" "subst" "0" "01156" "CLCN5_000048" "g.49854790A>G" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090133A>G" "" "likely pathogenic" "" "0000048733" "0" "90" "X" "49854809" "49854809" "dup" "0" "01156" "CLCN5_000051" "g.49854809dup" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090152dup" "" "pathogenic" "" "0000048734" "0" "90" "X" "49854812" "49854812" "del" "0" "01156" "CLCN5_000052" "g.49854812del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090155del" "" "pathogenic" "" "0000048735" "0" "70" "X" "49854826" "49854826" "subst" "0" "01156" "CLCN5_000053" "g.49854826G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090169G>A" "" "likely pathogenic" "" "0000048736" "0" "90" "X" "49854985" "49854985" "del" "0" "01156" "CLCN5_000056" "g.49854985del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090328del" "" "pathogenic" "" "0000048737" "0" "90" "X" "49854989" "49854989" "del" "0" "01156" "CLCN5_000057" "g.49854989del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090332del" "" "pathogenic" "" "0000048738" "21" "90" "X" "49855131" "49855131" "dup" "0" "01156" "CLCN5_000058" "g.49855131dup" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090474dup" "" "pathogenic" "" "0000048739" "0" "90" "X" "49855335" "49855335" "subst" "0" "01156" "CLCN5_000003" "g.49855335C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090678C>T" "" "pathogenic" "" "0000048740" "21" "90" "X" "49855355" "49855355" "del" "0" "01156" "CLCN5_000060" "g.49855355del" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090698del" "" "pathogenic" "" "0000048741" "21" "90" "X" "49855472" "49855473" "ins" "0" "01156" "CLCN5_000061" "g.49855472_49855473insG" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090815_50090816insG" "" "pathogenic" "" "0000048742" "21" "90" "X" "49855472" "49855473" "ins" "0" "01156" "CLCN5_000061" "g.49855472_49855473insG" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090815_50090816insG" "" "pathogenic" "" "0000048743" "21" "90" "X" "49855472" "49855473" "ins" "0" "01156" "CLCN5_000061" "g.49855472_49855473insG" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090815_50090816insG" "" "pathogenic" "" "0000048744" "21" "90" "X" "49855503" "49855503" "subst" "0" "01156" "CLCN5_000004" "g.49855503C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Germline" "" "" "0" "" "" "g.50090846C>T" "" "pathogenic" "" "0000048745" "21" "70" "X" "49855544" "49855544" "subst" "0" "01156" "CLCN5_000063" "g.49855544G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "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 et al. 2015:25907713}" "" "" "" "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}" "" "" "" "Unknown" "" "" "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}" "" "" "" "Unknown" "" "" "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}" "" "" "" "Unknown" "" "" "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}" "" "" "" "Unknown" "" "" "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}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090217A>G" "" "pathogenic" "" "0000048819" "1" "90" "X" "49846442" "49846442" "subst" "0" "01156" "CLCN5_000024" "g.49846442T>C" "" "{PMID:Hoopes 2004:15086899}" "" "" "" "Unknown" "" "" "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" "1" "90" "X" "49855147" "49855147" "subst" "0" "01156" "CLCN5_000059" "g.49855147C>T" "" "{PMID:Ludwig 2006:16807762}" "" "" "" "Unknown" "" "" "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" "1" "90" "X" "49850644" "49850644" "subst" "0" "01156" "CLCN5_000005" "g.49850644C>T" "" "{PMID:Hoopes 2004:15086899}" "" "" "" "Unknown" "" "" "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}" "" "" "" "Unknown" "" "" "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" "00" "X" "49851173" "49851173" "subst" "0.0116058" "01156" "CLCN5_000099" "g.49851173G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs34122840" "0" "" "" "g.50086516G>C" "" "" "" "0000058549" "0" "00" "X" "49851173" "49851173" "subst" "0.0116058" "01156" "CLCN5_000099" "g.49851173G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs34122840" "0" "" "" "g.50086516G>C" "" "" "" "0000058550" "0" "00" "X" "49851173" "49851173" "subst" "0.0116058" "01156" "CLCN5_000099" "g.49851173G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs34122840" "0" "" "" "g.50086516G>C" "" "" "" "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}" "" "" "" "Unknown" "" "" "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" "30" "X" "49854942" "49854942" "subst" "0.0162869" "01156" "CLCN5_000106" "g.49854942C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs34173954" "0" "" "" "g.50090285C>T" "" "likely benign" "" "0000058568" "0" "30" "X" "49854942" "49854942" "subst" "0.0162869" "01156" "CLCN5_000106" "g.49854942C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs34173954" "0" "" "" "g.50090285C>T" "" "likely benign" "" "0000058569" "0" "70" "X" "49837127" "49837127" "subst" "0.006301" "01156" "CLCN5_000107" "g.49837127T>G" "" "{PMID:Forino 2004:14673707}" "" "" "" "De novo" "" "" "0" "" "" "g.50072472T>G" "" "likely pathogenic" "" "0000058581" "0" "70" "X" "49850602" "49850602" "subst" "0" "01156" "CLCN5_000109" "g.49850602T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50085945T>G" "" "likely pathogenic" "" "0000058584" "0" "70" "X" "49853341" "49853341" "subst" "0.0420182" "01156" "CLCN5_000110" "g.49853341G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs7063765" "0" "" "" "g.50088684G>C" "" "likely pathogenic" "" "0000058585" "0" "70" "X" "49853341" "49853341" "subst" "0.0420182" "01156" "CLCN5_000110" "g.49853341G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs7063765" "0" "" "" "g.50088684G>C" "" "likely pathogenic" "" "0000058586" "0" "70" "X" "49853341" "49853341" "subst" "0.0420182" "01156" "CLCN5_000110" "g.49853341G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs7063765" "0" "" "" "g.50088684G>C" "" "likely pathogenic" "" "0000058587" "0" "70" "X" "49854720" "49854720" "subst" "0" "01156" "CLCN5_000111" "g.49854720G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50090063G>A" "" "likely pathogenic" "" "0000058588" "0" "70" "X" "49855267" "49855267" "subst" "0" "01156" "CLCN5_000112" "g.49855267G>A" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs150713901" "0" "" "" "g.50090610G>A" "" "likely pathogenic" "" "0000058589" "0" "70" "X" "49856719" "49856719" "subst" "0" "01156" "CLCN5_000113" "g.49856719C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs56041343" "0" "" "" "g.50092062C>T" "" "likely pathogenic" "" "0000058590" "0" "70" "X" "49856719" "49856719" "subst" "0" "01156" "CLCN5_000113" "g.49856719C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs56041343" "0" "" "" "g.50092062C>T" "" "likely pathogenic" "" "0000058591" "0" "70" "X" "49840444" "49840444" "subst" "0.00430832" "01156" "CLCN5_000108" "g.49840444A>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs6651602" "0" "" "" "g.50075789A>T" "" "likely pathogenic" "" "0000058592" "0" "70" "X" "49856719" "49856719" "subst" "0" "01156" "CLCN5_000113" "g.49856719C>T" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs56041343" "0" "" "" "g.50092062C>T" "" "likely pathogenic" "" "0000058593" "0" "70" "X" "49856898" "49856898" "subst" "0" "01156" "CLCN5_000114" "g.49856898A>G" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "" "0" "" "" "g.50092241A>G" "" "likely pathogenic" "" "0000058594" "21" "70" "X" "49856768" "49856768" "subst" "0.000588738" "01156" "CLCN5_000115" "g.49856768A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50092111A>G" "" "likely pathogenic" "" "0000058595" "0" "70" "X" "49853341" "49853341" "subst" "0.0420182" "01156" "CLCN5_000110" "g.49853341G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs7063765" "0" "" "" "g.50088684G>C" "" "likely pathogenic" "" "0000058596" "0" "70" "X" "49853341" "49853341" "subst" "0.0420182" "01156" "CLCN5_000110" "g.49853341G>C" "" "{PMID:Mansour-Hendili et al. 2015:25907713}" "" "" "" "Unknown" "" "rs7063765" "0" "" "" "g.50088684G>C" "" "likely pathogenic" "" "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" "77" "X" "49850988" "49850988" "subst" "0" "01156" "CLCN5_000150" "g.49850988A>G" "" "{PMID:Hoopes 2004:15086899}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "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" "" ## 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 = 328 "{{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.(Arg417*)" "" "0000048663" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417*)" "" "0000048664" "00025670" "90" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417*)" "" "0000048665" "00025670" "50" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417*)" "" "0000048666" "00025670" "90" "818" "0" "818" "0" "c.818C>A" "r.(?)" "p.(Ser273*)" "" "0000048667" "00025670" "90" "2318" "0" "2318" "0" "c.2318del" "r.(?)" "p.(Phe773Serfs*27)" "" "0000048668" "00025670" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "" "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.(Arg718*)" "" "0000048677" "00025670" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537*)" "" "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.(Arg707*)" "" "0000048680" "00025670" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Arg707*)" "" "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.-382_*7016{0}" "r.0" "p.0" "_1_15_" "0000048685" "00025670" "90" "" "0" "" "0" "c.-382_*7016{0}" "r.0" "p.0" "_1_15_" "0000048686" "00025670" "90" "" "0" "" "0" "c.-382_*7016{0}" "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" "-382" "0" "315" "1" "c.-382_(315+1_316-1)del" "r.0?" "p.0?" "_5_5i" "0000048690" "00025670" "90" "-382" "0" "415" "1" "c.-382_(415+1_416-1)del" "r.0?" "p.0?" "_5_6i" "0000048691" "00025670" "90" "-382" "0" "603" "1" "c.-382_(603+1_604-1)del" "r.0?" "p.0?" "_5_7i" "0000048692" "00025670" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000048693" "00025670" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000048694" "00025670" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000048695" "00025670" "70" "315" "0" "315" "0" "c.315G>A" "r.spl?" "p.(Glu35=)" "p.(=)" "0000048696" "00025670" "90" "376" "0" "376" "0" "c.376del" "r.(?)" "p.(Ser126Profs*5)" "" "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.(Trp173*)" "" "0000048699" "00025670" "70" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Trp173*)" "" "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.(Ala205Leufs*37)" "" "0000048703" "00025670" "90" "620" "0" "620" "0" "c.620dup" "r.(?)" "p.(Val208Serfs*35)" "" "0000048704" "00025670" "70" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Trp216*)" "" "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.(Leu270Argfs*8)" "" "0000048707" "00025670" "90" "891" "0" "892" "0" "c.891_892del" "r.(?)" "p.(His297Glnfs*9)" "" "0000048708" "00025670" "70" "902" "0" "902" "0" "c.902A>T" "r.(?)" "p.(Lys301Ile)" "" "0000048709" "00025670" "90" "909" "0" "909" "0" "c.909del" "r.(?)" "p.(Lys304Argfs*20)" "" "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.(Glu311*)" "" "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.(Gly331Glufs*98)" "" "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.(Glu474*)" "" "0000048726" "00025670" "70" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Gln500*)" "" "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.(Val584*)" "" "0000048732" "00025670" "70" "1762" "0" "1762" "0" "c.1762A>G" "r.(?)" "p.(Thr588Ala)" "" "0000048733" "00025670" "90" "1781" "0" "1781" "0" "c.1781dup" "r.(?)" "p.(Met595Asnfs*3)" "" "0000048734" "00025670" "90" "1784" "0" "1784" "0" "c.1784del" "r.(?)" "p.(Met595Serfs*4)" "" "0000048735" "00025670" "70" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Gly600Ser)" "" "0000048736" "00025670" "90" "1957" "0" "1957" "0" "c.1957del" "r.(?)" "p.(Met653Trpfs*3)" "" "0000048737" "00025670" "90" "1961" "0" "1961" "0" "c.1961del" "r.(?)" "p.(Asp654Valfs*2)" "" "0000048738" "00025670" "90" "2103" "0" "2103" "0" "c.2103dup" "r.(?)" "p.(Val702Cysfs*14)" "" "0000048739" "00025670" "90" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718*)" "" "0000048740" "00025670" "90" "2172" "0" "2172" "0" "c.2172del" "r.(?)" "p.(Val725Leufs*23)" "" "0000048741" "00025670" "90" "2289" "0" "2290" "0" "c.2289_2290insG" "r.(?)" "p.(Thr764Aspfs*48)" "" "0000048742" "00025670" "90" "2289" "0" "2290" "0" "c.2289_2290insG" "r.(?)" "p.(Thr764Aspfs*48)" "" "0000048743" "00025670" "90" "2289" "0" "2290" "0" "c.2289_2290insG" "r.(?)" "p.(Thr764Aspfs*48)" "" "0000048744" "00025670" "90" "2320" "0" "2320" "0" "c.2320C>T" "r.(?)" "p.(Arg774*)" "" "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.(Leu799*)" "" "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.(Arg417*)" "" "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.(Arg788*)" "" "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" "00" "1203" "0" "1203" "0" "c.1203G>C" "r.(?)" "p.(=)" "" "0000058549" "00025670" "00" "1203" "0" "1203" "0" "c.1203G>C" "r.(?)" "p.(=)" "" "0000058550" "00025670" "00" "1203" "0" "1203" "0" "c.1203G>C" "r.(?)" "p.(=)" "" "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" "30" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(=)" "" "0000058568" "00025670" "30" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(=)" "" "0000058569" "00025670" "70" "316" "-17" "316" "-17" "c.316-17T>G" "r.(?)" "p.(=)" "" "0000058581" "00025670" "70" "934" "-35" "934" "-35" "c.934-35T>G" "r.(?)" "p.(=)" "" "0000058584" "00025670" "70" "1558" "-14" "1558" "-14" "c.1558-14G>C" "r.(=)" "p.(=)" "" "0000058585" "00025670" "70" "1558" "-14" "1558" "-14" "c.1558-14G>C" "r.(?)" "p.(=)" "" "0000058586" "00025670" "70" "1558" "-14" "1558" "-14" "c.1558-14G>C" "r.(?)" "p.(=)" "" "0000058587" "00025670" "70" "1745" "-53" "1745" "-53" "c.1745-53G>A" "r.(?)" "p.(=)" "" "0000058588" "00025670" "70" "2144" "-60" "2144" "-60" "c.2144-60G>A" "r.(?)" "p.(=)" "" "0000058589" "00025670" "70" "2361" "-67" "2361" "-67" "c.2361-67C>T" "r.(?)" "p.(=)" "" "0000058590" "00025670" "70" "2361" "-67" "2361" "-67" "c.2361-67C>T" "r.(?)" "p.(=)" "" "0000058591" "00025670" "70" "416" "-6" "416" "-6" "c.416-6A>T" "r.(?)" "p.(=)" "" "0000058592" "00025670" "70" "2361" "-67" "2361" "-67" "c.2361-67C>T" "r.(?)" "p.(=)" "" "0000058593" "00025670" "70" "2473" "0" "2473" "0" "c.*22A>G" "r.(=)" "p.(=)" "" "0000058594" "00025670" "70" "2361" "-18" "2361" "-18" "c.2361-18A>G" "r.(?)" "p.(=)" "" "0000058595" "00025670" "70" "1558" "-14" "1558" "-14" "c.1558-14G>C" "r.(?)" "p.(=)" "" "0000058596" "00025670" "70" "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" "77" "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)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 261 "{{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" 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